# COLUMN DESCRIPTIONS: # Internal_ID: Protein identifier created for internal use (irrelevant for external use) "# DB_source_ID: Protein sequence identifier as obtained from an external database (RefSeq, UniProt or Ensembl)" "# Amino_acid_substitutions: Comma-separated list of missense variants in XnY format (X = reference/wild-type amino acid, Y = alternate/mutated amino acid and n = position in protein sequence)" # Class_label: Comma-separated labels for each variant (0 = Neutral/benign and 1 = Disease/pathogenic] "# Entrez_gene: Entrez gene ID (""-"" indicates protein sequence could not be reliably mapped); if two proteins have the same Entrez ID, they are alternative isoforms of the same gene" "# Cluster_50: Cluster number that protein sequence belongs to (based on clusters obtained from CD-HIT at 50% sequence identity); if two proteins have the same cluster ID, they share greater than 50% sequence identity" Internal_ID DB_source_ID Amino_acid_substitutions Class_label Entrez_gene Cluster_50 dbsnp10 NP_055704.2 "A209V,A33T,A397V,A554D,F169S,F618L,G1017R,G1017S,I328V,I952M,L145V,L883F,M595V,M681V,N481D,P969L,Q1037R,Q516H,Q8R,R1007S,R32Q,R424Q,R747Q,R767C,R805Q,S355C,T876M,T931M,V615M,V621I,V959I,V963I,W851C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10531 1948 dbsnp1000 XP_001126459.1 "H18Q,I132V,L66F,P205L,V56I" "0,0,0,0,0" - 12364 dbsnp10002 NP_060613.1 "N697S,S74R,T170M,T516I,V584M" "0,0,0,0,0" 55175 4008 dbsnp10004 NP_001157879.1 "A143T,F131S,R247H" "0,0,0" 727910 11609 dbsnp10005 NP_060092.2 "E103K,E141K" "0,0" 54785 9505 dbsnp10007 NP_112200.2 R105H 0 81671 8473 dbsnp10008 NP_065799.1 "I855L,R329K,T353A" "0,0,0" 57508 1407 dbsnp10009 NP_076920.1 "E176D,P131L,Y183C" "0,0,0" 3214 11597 dbsnp1001 NP_001135757.1 I271L 0 6229 11127 dbsnp10010 NP_997342.1 "A139V,A19T,C34Y,E50A,G93W,R8Q,S15C,V130M" "0,0,0,0,0,0,0,0" 400629 13648 dbsnp10011 NP_000979.1 Y18C 0 6155 14156 dbsnp10012 NP_001155843.1 "A100T,R72H" "0,0" 728392 14419 dbsnp10016 NP_612472.1 "L63V,L73F,S105N,T99M" "0,0,0,0" 116238 11984 dbsnp10018 NP_620412.1 "A283P,A283T,A302T" "0,0,0" 124540 9366 dbsnp1002 NP_001072984.1 "R29C,S19F" "0,0" 653308 3364 dbsnp10022 NP_004723.2 "G323A,L291P,N247S,R89W,V193M" "0,0,0,0,0" 9196 8185 dbsnp10023 NP_005199.2 "G159S,P25L,P30L,R58H" "0,0,0,0" 1411 12643 dbsnp10024 NP_055510.1 "E1209K,K467E,P1391Q,P50R" "0,0,0,0" 9720 944 dbsnp10025 NP_001445.2 "D111N,R204Q,S362L,T291S" "0,0,0,0" 2302 8141 dbsnp10026 NP_001229633.1 "A339V,I132V,L153P,P152L,P367L,P367Q,R24W,R314K,R413H" "0,0,0,0,0,0,0,0,0" 201181 8070 dbsnp1003 NP_660356.2 "F340C,G32S,M421R" "0,0,0" 221002 6992 dbsnp10031 NP_060979.2 "A287V,N109Y,R157W,R161Q,R161W,R292C" "0,0,0,0,0,0" 55379 10720 dbsnp10034 NP_954855.1 "A375T,A80G,G233S,P250L,V156A" "0,0,0,0,0" 782 5161 dbsnp10036 NP_001457.1 "A508V,G21R,P13L,R457Q,T250I" "0,0,0,0,0" 2535 4620 dbsnp10037 NP_001186829.1 R194Q 0 5164 7836 dbsnp1004 NP_060709.2 "A92T,E18K,L123I,P132L,R97C,R97G" "0,0,0,0,0,0" 55222 13293 dbsnp10042 NP_071441.1 "A108E,A175E,A175V,D274A,G152S,H146R,Q275E,R195W,V157A" "0,0,0,0,0,0,0,0,0" 64122 10671 dbsnp10047 NP_002757.2 "L220P,R23S,S330Y" "0,0,0" 5635 8897 dbsnp10048 NP_009079.2 "R366W,T129M" "0,0" 7732 4792 dbsnp10049 NP_003867.1 "L101S,T90P" "0,0" 8834 13141 dbsnp10053 NP_036610.2 "G136D,N33S,R125Q,R135S" "0,0,0,0" 23558 11685 dbsnp10054 NP_066564.2 "R214Q,S760L,T570S" "0,0,0" 2648 2992 dbsnp10055 NP_001008528.1 "E171K,K155M,R200W,V195M" "0,0,0,0" 439921 12886 dbsnp10056 NP_543012.1 "L115F,V181G" "0,0" 124641 12397 dbsnp10057 NP_060874.1 "A36T,D145G,M262T,R378H,R84C" "0,0,0,0,0" 55803 8961 dbsnp10058 NP_005773.3 A194T 0 10189 11610 dbsnp10062 NP_060113.2 "C168S,R493H,S227C,S322C" "0,0,0,0" 54799 4037 dbsnp10063 NP_001243776.1 P18T 0 29 1226 dbsnp10064 NP_003161.2 "L654I,L749I,M1346L,N287S,N967S,R975C,T835M,V628A,V645L" "0,0,0,0,0,0,0,0,0" 6830 611 dbsnp10065 NP_002138.1 M162I 0 3215 11500 dbsnp10066 NP_001028723.1 "C328F,P163T,S131F,V379I,V99A" "0,0,0,0,0" 146691 6536 dbsnp10068 NP_060218.1 "K300T,P296S,R372W" "0,0,0" 54883 8045 dbsnp10069 NP_644809.1 "F63L,T66M" "0,0" 94103 13865 dbsnp1007 NP_821079.3 "I530R,M449V,V22L" "0,0,0" 347731 5274 dbsnp10071 NP_005043.1 F192S 0 5881 11744 dbsnp10072 NP_000969.1 V94M 0 9349 14091 dbsnp10078 NP_077296.1 "E88D,G99R,R14Q,V82L" "0,0,0,0" 79170 14610 dbsnp10080;hgmd0613_1319 NP_005139.1 "G238R,R119W,R168C" "0,0,0" 9094 11897 dbsnp10083 NP_001243207.1 I44N 0 83871 10064 dbsnp10088 NP_065812.1 "A523V,A765T,A862T,A912T,C362Y,D1151N,D654N,Q1007E,T625M,T954M,V1228M,V652I" "0,0,0,0,0,0,0,0,0,0,0,0" 57521 1098 dbsnp10091 NP_001073888.2 Q44H 0 85451 3146 dbsnp10092 NP_573571.1 "A249V,A79V,P228R,P67L,R35Q" "0,0,0,0,0" 147179 7773 dbsnp10100 NP_859067.2 "A22G,E113A,P24S" "0,0,0" 201161 11373 dbsnp10101 NP_001243770.1 "P13A,P13S" "0,0" 11314 10889 dbsnp10102 NP_037392.1 "G190V,N129H,R96Q" "0,0,0" 29115 10700 dbsnp10103 NP_001001418.3 "H156D,I149V,K155R,M157I,V3M,V6F" "0,0,0,0,0,0" 414060 5855 dbsnp10104;dbsnp10105 NP_001093110.1;NP_060756.2 "A73T,F98L,G47A,L36V" "0,0,0,0" 55273 14186 dbsnp10106 NP_114164.1 "D49G,P53L,R7H" "0,0,0" 83896 14680 dbsnp10108 NP_064586.1 "D179G,Q122E,R208H,W189C" "0,0,0,0" 56953 12368 dbsnp10109 NP_872426.1 Y21F 0 348235 14396 dbsnp10110 XP_003118801.2 "A63T,C137R,R195H" "0,0,0" 100507656 4320 dbsnp10111 NP_996890.1 "G70S,V86M" "0,0" 388372 14738 dbsnp10115 NP_001662.1 "A174P,L35F,S92R,W264S" "0,0,0,0" 432 10501 dbsnp10117 NP_958928.1 "G54C,M214V,P174S,V178I,V228A" "0,0,0,0,0" 399512 10991 dbsnp10118 NP_055381.1 "A198V,L250F,L280V,T126I" "0,0,0,0" 8386 9806 dbsnp10119;dbsnp10120 NP_057508.2;NP_006098.2 "R246P,R312Q,V391M" "0,0,0" 51747 7914 dbsnp1012 NP_997256.1 "L6I,Q80H,R27H,R70H" "0,0,0,0" 387695 14819 dbsnp10126;dbsnp10127 NP_037455.2;NP_689450.1 "P195L,P229S" "0,0" 29916 11497 dbsnp1013 NP_005436.1 "K427R,P755L,V1087I" "0,0,0" 9126 1370 dbsnp10130 NP_079068.1 "M84I,S26C,T152M" "0,0,0" 79850 11770 dbsnp10131 NP_006264.2 "A14T,A3S,F38L,R61Q" "0,0,0,0" 6354 14658 dbsnp10132 NP_937818.1 I18L 0 4830 11555 dbsnp10135 NP_542408.1 E30D 0 140735 14766 dbsnp10136 NP_001001435.1 "A75T,G70V" "0,0" 9560 14738 dbsnp10137 NP_115752.1 "A82V,A92T,M11T,T228M" "0,0,0,0" 84336 11771 dbsnp10138 NP_006347.1 Y86C 0 10476 13704 dbsnp10139 NP_004118.3 "A125S,V198I,V326I" "0,0,0" 2873 6181 dbsnp1014 NP_001001791.2 "G110S,P66S" "0,0" 414236 13904 dbsnp10141 NP_001159773.1 "H126R,R636C" "0,0" 79665 3374 dbsnp10143 NP_079203.3 "D532G,E40K,G674C,Q209H,R377Q" "0,0,0,0,0" 79990 3266 dbsnp10144 NP_004881.2 R123H 0 9552 12398 dbsnp10146 NP_001137310.1 "A251V,R201W,V456I" "0,0,0" 284111 4686 dbsnp10148 NP_001245328.1 P98T 0 388389 12085 dbsnp10151 NP_006679.1 G115V 0 10882 11165 dbsnp10152 NP_057423.1 "G54A,L451V,R152C" "0,0,0" 51195 7474 dbsnp10153 NP_001230481.1 "R84I,V110I" "0,0" 100506650 14491 dbsnp10155 NP_001229720.1 "I65V,P107T,P41T,R62H" "0,0,0,0" 729220 14246 dbsnp10156;dbsnp10157 NP_997251.2;NP_001087236.1 "E64K,R60Q" "0,0" 348262 14701 dbsnp10158;hgmd0613_1332 NP_005211.1 "D28Y,Y237C" "0,0" 1747 11117 dbsnp10159 NP_443087.1 "Q11L,S218P,S222P,V190E" "0,0,0,0" 91369 9242 dbsnp1016 NP_001108628.1 "I258V,K128R,R231C,R35Q" "0,0,0,0" 2665 7637 dbsnp10162 NP_009075.1 A313V 0 7703 7229 dbsnp10164;dbsnp10165 NP_055712.1;NP_001138837.1 "A200T,S88C,T527I,V182A,V187I" "0,0,0,0,0" 22834 5069 dbsnp10166 NP_001230865.1 "I46N,L22V" "0,0" 5636 8897 dbsnp10169 NP_005431.1 "L130P,R200Q" "0,0" 8153 12044 dbsnp10170 NP_077284.2 C69S 0 79154 11711 dbsnp10172 NP_599030.1 "R74Q,S104C" "0,0" 114757 13174 dbsnp10176;hgmd0613_1112 NP_003800.1 "E134G,G118E" "0,0" 8742 10151 dbsnp10177 NP_001098990.1 "P55R,R83C" "0,0" 388327 14427 dbsnp1018 NP_001009610.1 "A544T,E474K,G237S,G473S,H35Y,L491Q,L541H,P488L,T155A,V169D" "0,0,0,0,0,0,0,0,0,0" - 2725 dbsnp10181 NP_001136271.1 P82L 0 124944 13142 dbsnp10184 NP_149441.1 "G14R,L43P,P60T,V62M" "0,0,0,0" 85293 14680 dbsnp10185;dbsnp10186 NP_001002027.1;NP_005166.1 S102P 0 516 13012 dbsnp10187 NP_001035372.2 "E465D,S484Y,V464I" "0,0,0" 654341 5855 dbsnp10189 NP_006151.3 A43V 0 4761 8944 dbsnp10190 NP_001123357.1 "P125H,R141C,R58Q" "0,0,0" 642843 13381 dbsnp10191 NP_005156.1 "A297V,D88N,F282L,N312S,R258H" "0,0,0,0,0" 230 8215 dbsnp10194 NP_006139.1 "I195T,M139V,P178L" "0,0,0" 3927 11492 dbsnp10195 NP_057209.3 V163I 0 51136 7869 dbsnp102 NP_055446.2 "A1008T,A363V,A737G,D615N,D689N,E1071V,G786R,K631Q,P1034H,P566L,P756S,Q1039R,R1003C,R102Q,R701C,R970Q,R994C,S235F,S362I,T719I,V837M,V89I,V984I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9644 1610 dbsnp10206 NP_055048.1 "A396T,H629Q" "0,0" 7343 3490 dbsnp10209 NP_009172.2 I248V 0 11267 11753 dbsnp10211;hgmd0613_1806 NP_057576.2 "L18F,V122M,V58I" "0,0,0" 29098 13249 dbsnp10212 NP_001171273.1 R151H 0 29098 13249 dbsnp10213 NP_057460.3 "A452T,I375V,V969M" "0,0,0" 51479 1392 dbsnp10217 NP_003159.1 "T5K,V71F" "0,0" 6827 14444 dbsnp10218 NP_066286.1 L91P 0 6349 14738 dbsnp1022 NP_001139746.1 "P483T,P495H,P495R,P565T,R455Q,S569C,S585P" "0,0,0,0,0,0,0" 6934 4923 dbsnp10220;dbsnp10221;dbsnp10222 NP_001017917.1;NP_001906.3;NP_001017916.1 R155H 0 1534 11898 dbsnp10226 NP_689562.1 V209I 0 125113 10992 dbsnp10228 NP_066271.1 "D173H,E114G,R160W" "0,0,0" 1443 11791 dbsnp10230 NP_858057.1 "I19V,Y149C" "0,0" 26207 10101 dbsnp10232 NP_077273.2 "C342Y,V167L" "0,0" 79142 8530 dbsnp10233 NP_001034486.2 "Q146H,R59H" "0,0" 254272 12755 dbsnp10236 NP_057513.1 "D159E,F131C,I161T,V162M" "0,0,0,0" 51226 12756 dbsnp10237 NP_001018146.1 V21M 0 654364 11555 dbsnp10239 NP_075567.2 E283K 0 65264 9568 dbsnp10240 NP_689343.3 "C125R,D47E" "0,0" 125111 11011 dbsnp10241 NP_057085.2 "D410E,N512D,S346R" "0,0,0" 51096 5761 dbsnp10242 NP_001157877.1 "A186P,R57H" "0,0" 727857 12242 dbsnp10243 NP_060391.2 "E601G,T333A" "0,0" 55666 5043 dbsnp10245 NP_001005404.1 A75T 0 388403 13785 dbsnp10246 NP_076957.3 P18S 0 79018 10861 dbsnp1025 NP_001185460.1 H458Q 0 6934 4923 dbsnp10250 NP_005819.3 K30N 0 10238 9863 dbsnp10251 NP_008873.1 A102T 0 6665 12280 dbsnp10252 NP_001091896.1 R529H 0 6603 6117 dbsnp10256 NP_001138297.1 "A356P,E438K,R287Q" "0,0,0" 10900 7151 dbsnp10257 NP_001001417.5 "I117T,I142M,K155R,L122M,M157I" "0,0,0,0,0" 414059 5855 dbsnp10258 NP_001171952.1 Q142E 0 1366 12447 dbsnp10259 NP_001001437.2 L91P 0 414062 14738 dbsnp10271;hgmd0613_743 NP_001229804.1 "A209T,A864V,C815Y,E328G,E860G,H424R,I579T,I606T,I662V,K813N,L233F,L233V,L268F,L509S,L526I,M511T,N774S,R184L,R19Q,S556T,S739Y,S75C,T128P,T176I,T608P,T880P,V370M,W761L,Y803C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55250 2657 dbsnp10272 NP_003565.4 "A282G,I141V,M153V,P104L,S209T,S254L" "0,0,0,0,0,0" 9218 11012 dbsnp10274 NP_001191071.1 I545M 0 4152 4540 dbsnp10279 NP_001191070.1 S563C 0 4152 4540 dbsnp10288 NP_077741.2 G836R 0 1825 2609 dbsnp10295 NP_115518.3 "C1189Y,D1056Y,D1683G,D243E,D316G,D821E,D826Y,E2186Q,E798G,E980G,E982D,E982G,E982K,F2246S,F984I,G1145R,G67R,G74A,G775E,G78R,H1669R,H194Q,H2136R,H638R,H638Y,I174L,I2223V,I2517T,I7R,K1835R,K2271E,K744E,K787R,L1169V,L1394F,L1701F,L2121P,N1883S,P1159R,P2267L,P2450L,Q1109P,Q1214R,Q2040R,Q981E,Q981R,R1085W,R1209H,R1544H,R1945S,R2115Q,R2152S,R2229Q,R2334S,R2427C,R2449L,R47K,R975H,S1316T,S138C,S1395R,S1451F,S1552P,S1617L,S2051N,S2290A,S833N,S983C,S983I,T1053A,T1232I,T1344I,T1655A,T187A,T1982A,T682M,T682R,T808I,V1153I,V1365M,V1410D,V357I,V832I,V910M,Y1738C,Y576C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55125 233 dbsnp10296 NP_653213.6 "A1189V,A1406V,A2036V,C1270R,D1094N,D1284E,D1912N,D226V,D570N,D676G,E1553K,E1574K,E1623G,E951K,G1509E,G626C,G628D,G632C,G755V,I388V,K438R,L2207I,M1988V,M1K,N1724S,N1872K,N326S,N725S,P481S,P981S,R1090Q,R1155G,R1377Q,R137H,R153C,R2133H,R421Q,R524C,R547H,R924Q,S611F,S852G,T1314I,T1383M,T297P,T692I,T883M,T895S,V1336L,V1364I,V1608I,V2092I,V363I,V573I,V825M,V92I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 125336 338 dbsnp10298 NP_001007560.1 "G354V,G370A,M205V,N195S,S212F,T44A" "0,0,0,0,0,0" 6760 8216 dbsnp10303 NP_060909.1 "D134G,R277C,R312I,V135A,V56L" "0,0,0,0,0" 55364 10396 dbsnp10306 NP_055754.2 "A749T,A806V,I1066T,I1122V,I1181T,I1264V,I1268V,L278V,M456V,N729S,P1317S,Q734R,R1097S,R609H,S1339A,T1008I,T851R,V721I,Y1176H,Y1376H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22878 928 dbsnp10311 NP_001123582.1 "A222T,H232Y" "0,0" 26040 736 dbsnp10315;dbsnp10316 NP_001087198.1;NP_079057.2 "A116S,A59G,E358K,G235S,H60P,I368V,I385T,L400I,N420K,R371T,T237R,Y62C" "0,0,0,0,0,0,0,0,0,0,0,0" 79839 6428 dbsnp10317 NP_001165438.1 G230C 0 79863 9834 dbsnp10319;hgmd0613_1463 NP_006153.2 "C751G,D297N,G747S,H236D,H437Y,L231M,L357V,L402P,P425S,P68T,S372Y,V210M,V745M,V764M,Y371D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4772 2371 dbsnp10326 NP_056025.2 "A1133D,A324T,A482V,D1203N,D1451N,D538G,E1043K,E1301K,E420D,G1480S,G431A,G486A,G778S,H1272R,H789D,H897Q,I1450V,I536T,K1086N,K824R,K892Q,L1261F,L1579V,L355Q,L760F,M242T,M421I,M519V,N1125S,P1129L,P251R,Q501R,R1016G,R1049C,R1140W,R1180Q,R1180W,R1255C,R1465W,R1471H,R1476Q,R1492K,R21Q,R25H,R561W,R59Q,R610H,R712Q,R962S,S1341G,S1359L,S1501L,S426L,S821N,T1324S,T467M,T699S,V1358M,V861M,Y1118F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23255 486 dbsnp10327 NP_001139662.1 G1635R 0 55628 317 dbsnp10343 NP_001121647.1 V371I 0 1837 3679 dbsnp10348 NP_001185867.1 E688K 0 1837 3679 dbsnp1035 NP_003981.2 "R266Q,T226I" "0,0" 5076 7587 dbsnp10358 NP_001010000.1 "A109V,C524Y,D155E,I406V,L86V,M476L,P105S,Q568P,R456L,R456Q,T31S,V270L" "0,0,0,0,0,0,0,0,0,0,0,0" 79822 3793 dbsnp10361;dbsnp10362 NP_001122060.3;NP_001139509.1 R4W 0 6563 7677 dbsnp10365 NP_001012531.1 "K133R,R4S,R64T" "0,0,0" 2922 13947 dbsnp10373 NP_002638.2 "C484S,D627G,F820V,I23M,L167F,V726I" "0,0,0,0,0,0" 5289 2681 dbsnp10378 NP_001129465.1 "K370E,Q132H" "0,0" 125488 5373 dbsnp1038 NP_006495.1 "D422G,E554D,G416S,L63V,M472V,N140S,T150S,T322M,T385M,T552M,V263M" "0,0,0,0,0,0,0,0,0,0,0" 5791 3192 dbsnp10380 NP_001138666.1 "G6A,H54Q,T63A" "0,0,0" 642597 14882 dbsnp10389 NP_001032411.1 "N378S,P201T,S127P,T219I" "0,0,0,0" 9097 6768 dbsnp10391 NP_037458.3 "A199G,A431V,F468L,G185A,H181R,H230R,I347V,L8V,M652R,P191L,P22H,R310Q,V526I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 29919 4515 dbsnp1040;dbsnp1041 NP_277033.1;NP_277032.1 L18P 0 3098 2477 dbsnp10421;dbsnp10423 NP_001188404.1;NP_001188403.1 "P52S,T44A" "0,0" 83608 12528 dbsnp10426 NP_001037834.2 "A378V,A76V,D107N,L83V,N335K,Q405R,R109C,R179H,R240Q" "0,0,0,0,0,0,0,0,0" 125704 8184 dbsnp10429 NP_430255.2 T809S 0 9150 2283 dbsnp1043 NP_955522.1 E315K 0 22891 7370 dbsnp10431 NP_115536.1 "A124T,D1213A,D991N,H120Y,I1123M,I259V,K850R,L583V,M1K,M70L,M85L,N1174H,N276S,P1065T,P683S,P952S,Q959H,R575K,R802C,S578N,S935A,T842S,T940I,V297I,V608L,V893I,Y740C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92126 1352 dbsnp10438 NP_001129652.1 "K55N,R46H" "0,0" 440498 14860 dbsnp1044 NP_955631.1 S79T 0 340719 11051 dbsnp10440 NP_079411.2 "A225T,A535G,A783G,E579K,G1367A,I199V,N405S,P335R,P547S,P584L,Q599R,Q722K,R1401K,R188C,R462Q,R475W,R478I,R518Q,R80Q,R919Q,S1046N,S546R,T75N,V1151I,V647F,V874I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80206 919 dbsnp10441 NP_569057.1 "D380V,D604H,D89G,E308K,E672K,F336S,I303T,I52V,L46F,N67S,Q651E,R393H,S142R,T110I,T135M,T165N,T341M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81035 3681 dbsnp10445 NP_001119595.1 E10G 0 55556 7599 dbsnp1045 NP_112174.2 "I14M,L272F" "0,0" 81603 5831 dbsnp10450 NP_001120648.1 "A2E,A76D,D160N,E227K,Q216R,R53S,T148A,T23N,V109M" "0,0,0,0,0,0,0,0,0" 83876 11656 dbsnp10463 NP_004843.2 "F195L,H184Q,S495L" "0,0,0" 9480 6595 dbsnp10467 NP_001177752.1 "S28F,V23I" "0,0" 4092 8021 dbsnp10468;dbsnp10469 NP_619585.1;NP_722453.1 "D204E,H370R,R372H" "0,0,0" 26256 6781 dbsnp10471 NP_064617.2 "E193K,G14S,R135H,R244Q,R83G,S82L,T239K,T64I" "0,0,0,0,0,0,0,0" 56984 11611 dbsnp10477 NP_001229733.1 "D86A,H46P,I48V,L81Q,V27I" "0,0,0,0,0" 100505549 14623 dbsnp10479 NP_001013455.1 "A376G,D46N,R410W,T342N" "0,0,0,0" 81929 8142 dbsnp10482 NP_001167594.1 "F548Y,I325T,L468S,L676P,M446I,N494S,P361S,P437A,R529C,R529P,S645P,V141L,Y658S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 644041 4222 dbsnp10485 NP_112593.2 "A124V,D424N,G103R,M405V,R271H,R57W,R85H,S88N" "0,0,0,0,0,0,0,0" 83473 6013 dbsnp10490 NP_892023.1 R46K 0 2774 1952 dbsnp10492 NP_056276.1 "A419G,E20K,E301K,E790G,G306R,I408V,I612V,P465A,R1162Q,R762H,R937G,S1170G,T659A,Y450C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25925 1148 dbsnp10498 NP_002965.1 "A229P,A332T,D14H,I159F,N25S,N306S,N65Y" "0,0,0,0,0,0,0" 6318 8490 dbsnp105 NP_001190991.1 "A31E,C161Y,R18G" "0,0,0" 100532731 7229 dbsnp10500 NP_001136438.1 "A1237V,A532V,D1108G,E1016A,I1756V,K1183R,K747R,M1471V,P1304L,R241Q,R723W,S793P,S964L,T787M,Y41F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80000 469 dbsnp10501 NP_665699.1 "C212G,G59S,H211L,Q296R,T302I" "0,0,0,0,0" 252884 10024 dbsnp10506 NP_116038.4 "A238V,A355T,D165N,D316N,E117K,H270N,H380Q,I434V,M273V,P31T,P417S,Q480K,R161P,R22H,R321Q,R91C,S26F,T123M,V466L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84735 6529 dbsnp10507 NP_001244893.1 "D100G,D100N,D170N,G161D,G161V" "0,0,0,0,0" 284257 142 dbsnp10510 NP_001186284.1 "L214I,S184L,V211A" "0,0,0" 100526842 12369 dbsnp10521 NP_001230161.1 "A11V,P29T" "0,0" 6925 3427 dbsnp10529 NP_001230155.1 C49Y 0 6925 3427 dbsnp10533 NP_001094089.1 "A114D,A114T,C307S,L240F,L445F,R305Q,R594Q" "0,0,0,0,0,0,0" 91768 4765 dbsnp10534 NP_612384.1 L2F 0 91768 4765 dbsnp10539 NP_001230446.1 "A46V,G74R,L123S,S25L,V96I" "0,0,0,0,0" 100130480 14171 dbsnp1054 NP_001171589.1 V10I 0 9562 6881 dbsnp10544 NP_065856.1 "A614V,E233D,M298I,P229R,S64I,Y542H" "0,0,0,0,0,0" 57565 4823 dbsnp10546;dbsnp10547 NP_620416.1;NP_001188394.1 "A12T,A487G,G26E,G400E,G402R,I518T,R369H,V373I,V477I,V512I" "0,0,0,0,0,0,0,0,0,0" 81832 6090 dbsnp10563 NP_005777.3 "A1002V,A468T,A549V,A570T,G1016S,L621P,L621Q,L621R,M689T,P111T,P636L,P746R,P980S,R864Q,T143A,T638M,V345I,V779M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10194 1789 dbsnp10568 NP_976037.1 "D807N,Q854R" "0,0" 5932 2628 dbsnp10570 NP_065699.1 A157V 0 57045 12484 dbsnp10576 NP_037437.2 "M326T,P325A,R148C,R177H,S108T" "0,0,0,0,0" 29906 9078 dbsnp1058 NP_057130.1 "A147T,P94L,R6G,V56M" "0,0,0,0" 51013 13081 dbsnp1059 NP_071322.1 "A370D,A3P,H201Q,R390H,V97A" "0,0,0,0,0" 6468 8344 dbsnp10590 NP_079175.2 "A329T,G203R,I192V,L534F,R331W,S172N" "0,0,0,0,0,0" 79959 4495 dbsnp10601 NP_055728.1 "A325V,G379R,G986E,I392V,N221D,N223S,N50K,N523K,N815S,P1006L,R397H,R496Q,S677A,T1012M,T86A,V672M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22850 1625 dbsnp10602 NP_115914.1 "A254V,E194D,E401G,M257T,N89S,R86Q,S145L,T312A,V169I" "0,0,0,0,0,0,0,0,0" 84617 7569 dbsnp10603 NP_066976.1 "A653D,A712T,C19S,D323Y,D71E,E151Q,G592E,G645A,G727V,H326P,I408V,L602V,N25D,N74S,Q118K,S300L,S402Y,T239A,T89I,V391M,W47C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28513 3433 dbsnp10604 NP_001034449.1 "A101T,A252T,G344E,P250S,P253L,R223Q,V353G" "0,0,0,0,0,0,0" 201501 4930 dbsnp10608;hgmd0613_802 NP_001641.1 "I128T,I193T,I205L,M224T,R182W,R19T" "0,0,0,0,0,1" 361 10334 dbsnp1060;hgmd0613_2314 NP_660161.1 R65G 0 220202 13889 dbsnp10610 NP_001193942.1 "F136L,I267V,Q361E,S82G,T194K,V257I,V270M,V388M" "0,0,0,0,0,0,0,0" 5771 7850 dbsnp10614 NP_689683.2 "D303E,F143L,V207I" "0,0,0" 494470 9780 dbsnp10615 NP_004057.1 "A149T,A2T,M72T" "0,0,0" 1068 13511 dbsnp10619 NP_001020272.1 "A201T,A63V,E116Q,G181S,P164S,P73L,R183G,S58F" "0,0,0,0,0,0,0,0" 4155 10787 dbsnp1061;dbsnp1062 NP_001005368.1;NP_008904.1 H151Q 0 7580 11421 dbsnp10626 NP_115723.1 "A141V,I242T,P13H,Q52R,R157T,R228H,R271T,R70Q" "0,0,0,0,0,0,0,0" 84307 6082 dbsnp10627 NP_775828.1 "A150V,D29V,Q139R,V130I,V37A" "0,0,0,0,0" 220441 12905 dbsnp1063 NP_006820.1 "D55E,D55H,D55N" "0,0,0" 10974 14846 dbsnp10632 NP_001094287.1 "A254T,E356A,G369W,S301C" "0,0,0,0" 728929 5895 dbsnp10634 NP_689934.2 "A304T,A79V,A93S,S291L,S316L" "0,0,0,0,0" 220164 10124 dbsnp10635 NP_001099051.1 "N240S,R111G,R17K,S249G" "0,0,0,0" 339291 10843 dbsnp10636 NP_443066.2 "A678S,E1315Q,L1212P,L1307S,N1332S,N306S,Q721H,R125Q,S716F,T1393M,V35I,V815I" "0,0,0,0,0,0,0,0,0,0,0,0" 23335 844 dbsnp1064 NP_001229628.1 "A63G,E447V,H457Q,L605P,N295H,P199S,P334T,Q170E,T556N" "0,0,0,0,0,0,0,0,0" 387712 4849 dbsnp10640 NP_001185871.1 "H115Y,R74C" "0,0" 1837 3679 dbsnp10643 NP_612452.1 "A102V,H38R,K228E,L269V,R128C,S240P,S41P" "0,0,0,0,0,0,0" 115106 11313 dbsnp10644 NP_004530.1 "D356A,I397V,N218S,T17M,V314A,V405I" "0,0,0,0,0,0" 4677 5874 dbsnp10645 NP_003918.1 "A326P,A326S,G115S" "0,0,0" 8932 8366 dbsnp10646 NP_001092287.1 "A223S,G89D,R207Q,T11S,T53M,T71M" "0,0,0,0,0,0" 125476 12370 dbsnp10648 NP_004223.2 "E71K,M296I,S245F" "0,0,0" 9306 6061 dbsnp10649 NP_001128650.1 "D260N,Q317H" "0,0" 84307 6082 dbsnp10650 NP_001185478.1 "A220T,G117S" "0,0" 8715 4274 dbsnp10655;dbsnp10656 NP_954636.1;NP_055225.1 "D344G,N351D" "0,0" 27098 7285 dbsnp10657 NP_150596.1 I106V 0 90701 13143 dbsnp10661 NP_004777.1 "E227D,T117K" "0,0" 9352 11129 dbsnp10664 NP_036451.3 "E246K,K212R,P315L,R76I,S475F" "0,0,0,0,0" 25800 3566 dbsnp10669 NP_001020267.1 "D102G,R171Q,R90H,V106A,V47A" "0,0,0,0,0" 143471 11792 dbsnp10675 NP_001136202.1 E106V 0 284252 2801 dbsnp10679;hgmd0613_1963 NP_065825.1 "G802D,I1003V,I479V,S928I" "0,0,0,0" 57534 2088 dbsnp10680 NP_001116838.1 D123N 0 284293 14106 dbsnp10681 NP_001230354.1 "T61I,T72A" "0,0" 125488 5373 dbsnp10682 NP_001032408.1 "A8P,M27I,R11Q,R29W,R66T" "0,0,0,0,0" 284274 14634 dbsnp10683;dbsnp10684 NP_001135877.1;NP_006544.2 "H166Q,I160V" "0,0" 10650 13110 dbsnp10685 NP_001139815.1 T124M 0 80148 11464 dbsnp10686 NP_036415.1 "A422V,R15H,V182M,V370M" "0,0,0,0" 26251 6331 dbsnp10687 NP_852147.1 "A257T,F123L,Q102H,R99H" "0,0,0,0" 753 10739 dbsnp10689 NP_852148.1 "A199T,F65L,Q44H,R41H" "0,0,0,0" - 10739 dbsnp10691 NP_004329.1 "A217T,F83L,Q44H,R41H" "0,0,0,0" - 10739 dbsnp10693 NP_857637.1 "G20S,R107Q" "0,0" 339302 13729 dbsnp10694 NP_115899.1 G272D 0 84552 9079 dbsnp10697 NP_002921.1 R182H 0 6014 12213 dbsnp10699 NP_001122098.1 "F407C,P78L,Q579H,R194Q" "0,0,0,0" 56907 3555 dbsnp10704 NP_659492.1 "C93R,D44Y,S309G" "0,0,0" 147339 8511 dbsnp10706 NP_001073678.1 L418F 0 645369 4902 dbsnp1071 NP_150286.1 "C39Y,R110S,R16C,W180R" "0,0,0,0" 91734 11204 dbsnp10726 NP_982297.1 "C96R,F156L,G99D,M152T,M1V,R137P,R22C,R27H,V45I,V67A" "0,0,0,0,0,0,0,0,0,0" 56891 13578 dbsnp10735 NP_963998.2 "L351P,P352L,R358P,R405K,T342A,T342M" "0,0,0,0,0,0" 6915 8447 dbsnp10738 NP_001182731.1 "A270T,A485S,A739V,D221N,E505K,G203S,G20R,G357R,G395S,M581I,M646I,R132W,R182W,R693Q,V457A,V598A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 2828 dbsnp10748 NP_001073972.2 "C278S,Q68K,V77L" "0,0,0" 126075 8332 dbsnp1075 NP_775825.1 "A41T,E52V,H47L,M136T,P108L,Q97K,T134M,Y77C" "0,0,0,0,0,0,0,0" 219621 12789 dbsnp10754 NP_001184051.1 "A418T,E366K,E432D,H409Y,R368H" "0,0,0,0,0" 3661 7562 dbsnp10755 NP_001184052.1 V12L 0 3661 7562 dbsnp10766 NP_039663.1 Q417R 0 2639 7798 dbsnp1077 NP_061119.1 "A343S,A68T,E222K,L32M" "0,0,0,0" 55506 9171 dbsnp10773 NP_005474.2 "A486T,A708T,F325I,L130F,P250L,Q126R,R763Q,R797Q,S224G,S868L,T943A" "0,0,0,0,0,0,0,0,0,0,0" 10036 2301 dbsnp1078 NP_203755.1 "R104W,R181W,R482C,T297M,T373P,W227L" "0,0,0,0,0,0" 85450 5887 dbsnp10783 NP_003564.2 V4I 0 8425 707 dbsnp1079 NP_006417.2 "A349V,A407T,A416V,I358V,M103T,P309Q,P517L,R440Q,V72I" "0,0,0,0,0,0,0,0,0" 10570 4210 dbsnp10794 NP_006618.1 "A14V,A209V,A214T,D189N,D219G,R173L" "0,0,0,0,0,0" 10775 12537 dbsnp10795 NP_001138906.1 "C186Y,C413F,E38G,G100R,H399Q,K154R,K356E,K471R,M401I,M401V,N202H,Q406K,Q406R,R198S,R257Q,R559Q,V12M,Y150C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 400713 2996 dbsnp10796;hgmd0613_680 NP_001120693.1 "E1015K,E732A,G1016R,G1845C,K1925N,L1316I,P1011A,P1173L,P914S,T1997A" "0,0,0,0,0,0,0,0,0,0" 773 239 dbsnp108 NP_997011.1 "A352V,G77V,L292I,P237L,Q457E,R362Q,R409K,R431W,S269L,S463T,V285I,V399I,V80I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 196743 6457 dbsnp10805 NP_006288.2 "A121T,E491K,H528Y,P273L,Q399R,R118W,R5H,R7P,T284I,Y576S" "0,0,0,0,0,0,0,0,0,0" 7515 4762 dbsnp1081 NP_116196.3 "G101R,G161R,H33R,P88L,Q473R,R223Q,R223W,R57Q,V238M,V552I" "0,0,0,0,0,0,0,0,0,0" 84893 1734 dbsnp10816 NP_001152794.1 G22W 0 8605 5833 dbsnp10819 NP_001093164.1 "A44S,C373Y,E238K,F40L,G535R,I263T,I584V,K406M,K428E,L156P,M1T,N185D,R122S,R502C,T385A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147660 2403 dbsnp1082 NP_001017.1 P131L 0 6229 11127 dbsnp10821 NP_001166126.1 "C366Y,C422Y,D114G,D306E,D317Y,D9Y,G174D,I234V,I357M,K321R,L185V,L70P,N507S,P503L,R495H,R521C,T182I,T337K,V274E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55762 2403 dbsnp10828 NP_001185487.1 "R424G,Y435H" "0,0" 27180 5196 dbsnp10829 NP_001129242.1 "K369R,R391S" "0,0" 5817 6019 dbsnp10832 NP_001028891.2 "C189R,E387D,E440K,G337S,K55R,M35T,N62Y,R477C,T251M,Y63C" "0,0,0,0,0,0,0,0,0,0" 342908 4279 dbsnp10835 NP_001230008.1 "A140V,A234V,E142K,G223V,G323R,L253V,M130V,M332V,P189L,P89L,R314Q,R73W,T113M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 126520 9998 dbsnp10838 XP_003119153.1 "A324V,A348P,I168V,N290T,N56K,R149S,R52H,R77W,Y321H,Y321N" "0,0,0,0,0,0,0,0,0,0" 100133046 7486 dbsnp1085;dbsnp1086 NP_001161862.1;NP_001157847.1 "P116L,R104H" "0,0" 414152 14201 dbsnp10865;dbsnp10866;dbsnp10867;dbsnp10868 NP_001099024.1;NP_001229467.1;NP_001229460.1;NP_001099023.1 "A449V,D376N,D468G,G407E,H364R,L444R,N329S,R141I,R244H,R420W,S96N,T119M,T70I,T90R,Y345S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 3138 dbsnp10872 NP_001243181.1 "E727V,N717D" "0,0" 2015 2687 dbsnp10873 NP_001243182.1 M598T 0 2015 2687 dbsnp10882 NP_079164.1 "A718V,E484K,I193T,K46M,L70F,P222L,P324S,Q314H,R132Q,R132W,V275L" "0,0,0,0,0,0,0,0,0,0,0" 79948 3651 dbsnp10888 NP_037491.2 "G418E,G428A,H214R,H293R,H388R,I156T,K274R,L533P,N65D,N71D,R171C,R348C,R436Q,R437Q,R560Q,T342I,T40S,T433K,V230M,Y226C,Y432C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7638 4016 dbsnp1089 NP_001161076.1 "A302V,G272A,L22V,M238I,N605I,N62S,T67S,V151G" "0,0,0,0,0,0,0,0" 7511 4414 dbsnp10896 NP_001005376.1 H280Q 0 5329 10013 dbsnp10900 NP_115499.4 "A613S,W624R" "0,0" 84063 3998 dbsnp10914 NP_001138381.1 A167T 0 10332 8508 dbsnp10921 NP_001177396.1 "A103D,A439D,A984T,H779P,I136N,I641T,L242M,P307L,P452A,P751S,S173P,S728P,T455A,T805M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80164 1074 dbsnp10932 NP_076433.3 "G328A,H257R,I406V,L11F,N467S,P119L,R254W,S85P,V270L" "0,0,0,0,0,0,0,0,0" 66002 6107 dbsnp10933 XP_003403464.1 "E258D,F266I,F266L,F266V,K160T,L31V,V269E" "0,0,0,0,0,0,0" - 7486 dbsnp10934 XP_003403448.1 "D253E,L261F,L261I,L261V,L26V,T155K,T16A,V264E" "0,0,0,0,0,0,0,0" - 7486 dbsnp10937 NP_001077008.1 "G259R,L220P,L2S,P203S,R187H,R187L,R187P,R298C,R96W,S184A,S184P,S184T,V68I,W159G,W159R,W304L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3813 7486 dbsnp10939 NP_055034.2 E56Q 0 3803 7486 dbsnp10941 XP_003403456.1 "E127G,E291K,K237E,K344N,L32R,N240S,P175T,P229L,P37R,Q56E,R152W,R162T" "0,0,0,0,0,0,0,0,0,0,0,0" - 7486 dbsnp10944 NP_001245312.1 "A177T,A379P,C92Y,I193M,P171L,P248A,R94G" "0,0,0,0,0,0,0" 100287534 7486 dbsnp10945 NP_002246.5 "A138T,A340P,I154M,I307V,P132L,P209A,R55G,T48A,V116L,Y53C" "0,0,0,0,0,0,0,0,0,0" 3805 7486 dbsnp10953 XP_003403454.1 "E138D,E23K,E23Q,E258D,E260G,G259R,G274R,K271N,K271R,L113M,L113V,L53H,L53R,N162D,R247Q,S107L,S51C,S51Y,V272I,V39L,V75I,V75L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 7486 dbsnp10956 NP_055033.2 "A113P,A141T,C10G,D184V,G188D,G193R,G200S,H192Q,H26R,H77R,I120V,I123T,K343N,L135P,L140Q,L171F,M8T,P172S,P224S,R317H,R37P,S289I,S88G,T195N,T91K,T91M,T91R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3802 7486 dbsnp10957 NP_001138422.1 "A1489V,A159V,A169T,A601V,A855T,D497N,D776N,E397K,G1536E,G536S,L1441F,L976P,L976Q,L976R,M1274I,P1086L,P1092L,P1456S,P1467S,P473S,P597L,P852S,Q690E,R1498K,R279Q,R372G,R522C,S1012F,S656R,T1273M,T628N,T699M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284297 760 dbsnp10960 NP_001139281.1 G681R 0 79784 405 dbsnp10965 NP_056507.2 "A1351V,A379T,A882T,D1588E,D1774N,D288N,D344N,D586E,D586N,E627D,H465R,H593R,M312T,M368I,N1927D,P783H,Q1890R,R1389Q,R298W,R341Q,R341W,R394W,R718H,R984Q,S1103A,T108M,T1315I,T1608I,T427M,T551I,V1203I,V1896L,V355I,V369M,V480E,V663I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27151 463 dbsnp10966 NP_001007526.3 "A1100T,A1134V,A212T,A218T,A820T,A925T,A957T,C15F,C215R,D1289E,D1370Y,D213V,D477N,D606N,E1139K,E1297K,E1311D,E1425K,E673K,F1271Y,G1180S,G828A,G850R,G866S,H935N,H935R,I1069V,I1109M,I171V,I38T,I69M,I78V,K353N,L1212V,L1323V,L211F,N1368S,N926I,P1295H,P714L,Q183L,Q325R,Q747R,Q900E,R1118H,R1214H,R1267C,R1267H,R1420C,R142C,R173W,R181Q,R181W,R210W,R315H,R36W,R481Q,R544Q,R665C,R81W,S1175T,S174G,S306L,T1133M,T1429M,T411I,T563M,T722M,V1052I,V1290L,V1322I,V1354M,V369I,V433M,V579M,V663M,V723F,Y585C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284434 764 dbsnp10967 NP_008836.2 I424V 0 5669 7855 dbsnp10971 NP_001074907.1 "A292V,A372S,A400P,A433G,C330Y,D223G,D351N,E370Q,E392K,F5L,G12R,G172R,G190R,G237V,G380E,H20L,K361E,K361Q,K361T,N335D,N335H,P17L,P309S,P338S,P377S,Q355H,Q413R,R159Q,R18S,R284H,R289G,R347G,R347W,R366S,S148G,T192I,T52A,V188L,W258R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 4574 dbsnp10975 NP_612420.1 "G158R,G91S,L51V,L56F,R204Q,S190I,V38A" "0,0,0,0,0,0,0" 112703 11971 dbsnp10982;hgmd0613_681 NP_001120727.1 K973M 0 199713 1848 dbsnp10985 NP_002025.2 "A101G,A101V,A228V,D177N,D301N,G183C,G183S,G236R,N212S,P195S,P299L,R253Q,R340Q,R367C,R38Q,R63P,R93H,T250M,Y257C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2527 9107 dbsnp10986 NP_689568.2 "E227K,E634K,G202V,G539A,H190Y,P195S,R115H,S106N,T387S,V122I,Y169C" "0,0,0,0,0,0,0,0,0,0,0" 126068 3684 dbsnp1099 NP_001012991.1 "E57A,E57Q,P29L,P82T,P83L,R47C,R47H" "0,0,0,0,0,0,0" 219348 14698 dbsnp10993 NP_848606.3 G138E 0 255783 14055 dbsnp10995 NP_115871.1 "G1443C,V1046L" "0,0" 84444 600 dbsnp10999 NP_112600.1 "A347V,A438V,F147L,P396L,Q146P,Q330E,Q374P,R204Q" "0,0,0,0,0,0,0,0" 83483 7729 dbsnp1100 NP_001138845.1 "A270S,D446Y,S326C" "0,0,0" 220213 6993 dbsnp11000 NP_940873.2 "A485T,A598T,D288Y,E306K,E610K,E796K,L642F,P791S,R359H,S693N" "0,0,0,0,0,0,0,0,0,0" 256949 2959 dbsnp11001 NP_849159.2 "A27V,E339G,G224S,G378W,L381P,P577L,V516M,W44L" "0,0,0,0,0,0,0,0" 352909 5044 dbsnp11029 NP_001191767.1 "A347T,A427E,A427V,C318S,C535Y,D160G,D327N,E371K,E569G,G630R,H252Q,H585Y,H591R,I301V,P221T,P627A,R377H,R461H,R546C,R552Q,S425C,T265I,Y488D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374900 4652 dbsnp11031 NP_078966.2 "A1034D,A10788V,A10966G,A11199G,A11221V,A11788D,A12537S,A12822S,A1603T,A1786P,A2125G,A2747T,A3101S,A3101T,A37D,A4520T,A4716S,A5754T,A6084T,A6331S,A739V,A9121T,A9502T,A9520T,C12718R,C12718Y,D11390N,D12151V,D13704E,D13712E,D2356E,D2919G,D3468G,D4205G,D4992G,D6322V,D6322Y,D7923A,D8344A,D9129E,D9850E,E10153Q,E11949K,E12290K,E12331K,E12448K,E12474Q,E12479G,E12941K,E14201K,E3037G,E3961K,E417D,E450K,E6851K,E8069G,E9770K,F10169L,F12394Y,F2665S,F4655I,F5852V,G1060E,G10732A,G1144C,G11455D,G12642D,G1302E,G14156R,G1950A,G2023R,G2983R,G3026R,G3826E,G5295E,G7589V,G7858C,G8433E,G9255S,G9380D,H10097Q,H10164Y,H10704N,H1353Y,H13576N,H3515Y,H4166N,H478Y,H5741D,H6152Q,H858P,H9513Q,H9993L,I10396N,I10712V,I12707T,I2150V,I4034F,I4828V,I4902V,I4952V,I5751T,I6149M,I6736F,I7272V,I7353V,I8200T,I9213T,I9920T,K1266N,K3506T,K427E,K4691N,K9429N,L10013P,L1236P,L13515F,L14002F,L14086F,L14450I,L1833F,L1845H,L2229M,L5284I,L5489P,L7396M,L7451W,L7964R,L9177F,M10796V,M12247V,M122I,M13472T,M2688I,M2786I,M5557T,M7299V,M8252I,M8891T,M9702I,M9843V,N12184D,N12498D,N12570S,N1890K,N3295S,N4516D,N5228I,N7776I,N8301T,N8913K,P10068S,P10388Q,P1041S,P10787S,P10828S,P11787L,P11912T,P12517S,P13092L,P13837R,P13914L,P14050A,P1591R,P1955Q,P246Q,P2881S,P3133S,P3289T,P3522S,P353S,P4142L,P4151T,P4458L,P4854A,P5047S,P5364S,P5481T,P5537S,P5682T,P5830S,P5932T,P6719R,P6785S,P6794S,P6858T,P7228L,P7363S,P7627L,P7644T,P8646T,P8702S,P877S,P8789R,P9270A,P9422L,P9608S,P962T,P9778L,P9902S,Q11205K,Q11231H,Q12317K,Q13566R,Q13957K,Q9405R,R1015G,R10471K,R10574H,R12149C,R12194Q,R12248H,R12508Q,R13029C,R13029H,R13120W,R13341H,R13341S,R13342H,R13554C,R14228K,R3282K,R3417Q,R344K,R3499M,R3573H,R3634C,R4078K,R6993G,R8606H,R8844H,R9982K,S1032T,S10404R,S10912R,S11104N,S11154F,S11410R,S11585R,S11C,S1228P,S12444Y,S12514T,S1258G,S13917R,S14084F,S1715F,S1891N,S1953P,S2058P,S2334G,S2463L,S2675L,S2920P,S3028I,S3190T,S3215G,S3337L,S3960F,S4027R,S4320P,S4477P,S4618L,S4663I,S5045P,S5525P,S5629G,S5728A,S5734F,S5885F,S620G,S6330T,S6358P,S6504Y,S7019L,S7415G,S8798L,S8846L,S9192N,S9207P,S9820P,T10090N,T10155I,T10252A,T11143N,T11421N,T1162I,T11937I,T1198M,T12140M,T12257S,T12578S,T13038A,T13332I,T13818A,T14024S,T14082A,T14253A,T1611K,T1803S,T2134I,T2271A,T2456I,T2506A,T2833N,T2834M,T2891I,T3120N,T3723M,T3788I,T3918M,T4026A,T4077S,T4169A,T424M,T4394I,T4530I,T4824M,T4962I,T5177I,T5353S,T545A,T5462R,T5875A,T5980N,T617I,T6196A,T6508N,T6672I,T7063A,T7217I,T7276S,T7348A,T7502I,T7603S,T8387I,T8779A,T9263R,T9655A,T976R,T9889N,T9958S,V10081D,V10255I,V11090A,V11097M,V13007G,V13167M,V14304G,V14466L,V14489I,V1535A,V2288L,V2472I,V3283I,V3530I,V3637A,V3643A,V4305L,V5155I,V5427I,V5669G,V6306M,V649F,V6780L,V7574I,V8448F,V8969M,V9159A,V9514I,V9909I,Y13895F,Y14334H,Y1898D,Y9899F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94025 1 dbsnp11037 NP_115528.4 "A528V,E75Q,E99Q,G135E,G609R,K57Q,M1V,P73Q,S174C,S260R,V100F,V76F" "0,0,0,0,0,0,0,0,0,0,0,0" 84106 3894 dbsnp1104 NP_001005339.1 "D167E,V108M,V52M" "0,0,0" 6001 13344 dbsnp11043 NP_001138776.1 "A1062T,A1062V,A1116T,A1122V,A1228T,A39T,A50E,A50V,A614V,A940V,C197R,G1100R,G384R,G789S,G840S,G853R,G863S,H1187Q,H1298R,I1329T,I1367F,L1292M,L235V,L44P,M1320I,M187V,M359T,M99T,P1095H,P66L,P823R,P835L,Q611L,Q611P,Q864E,R1074C,R1074H,R1089C,R1138Q,R1153Q,R1181Q,R496L,R745W,R787H,R856C,R856H,S1071L,S10F,S285T,S546F,T1265I,T422I,T424M,T524A,T610P,T855A,V1189I,V272I,W1283L,Y574C,Y648F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80726 1038 dbsnp11044 NP_001182762.1 N24D 0 126432 5606 dbsnp11048;hgmd0613_648 NP_001077430.1 "A1020T,A1271G,A1271V,F439L,F439V,G1375S,G1522R,H761Y,I308V,K289R,K771R,L1165P,L1387I,L1390F,L1438M,L757V,L850S,M1134R,M889T,N101K,N409D,P794R,Q1310L,Q1316E,R1136Q,R1225H,S1509L,S992L,V1083A,V1255I,V1313M,V1332G,V410L,V85M,W1461G,Y1147C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284403 799 dbsnp1106 NP_005727.1 R72C 0 10121 1801 dbsnp1107 NP_940917.1 "E48K,N145K,S63F" "0,0,0" 374355 11752 dbsnp11073 NP_001123468.1 S4L 0 7673 4016 dbsnp11079 NP_055162.1 "A128T,A545V,G218S,G530A,K414M,L213M,P165S,P169S,R126P,R132Q,R27C,R71G,R96Q,S91F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25799 5800 dbsnp1108 NP_997309.2 "E200A,P61Q" "0,0" 399823 10448 dbsnp11083 NP_620279.1 V235I 0 2593 11513 dbsnp11098;dbsnp11099 NP_060825.2;NP_001157781.1 "G62D,H148P,H171R,H230R,I181L,I185V,I545F,K270E,K521Q,N132D,N415D,N424S,N499T,P147A,R234C,R283H,R291Q,R291W,S527G,Y193C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55786 2403 dbsnp11105 NP_954979.2 "P296L,P296S,P297H,P330A,Q146K,R119W,R74W,V62M" "0,0,0,0,0,0,0,0" 284338 9525 dbsnp11106 NP_663299.2 R92H 0 284443 1203 dbsnp11107 NP_001070146.1 "C323F,D597E,E485G,E605K,G138V,G310E,G317E,G607D,G737R,H172R,H363Q,H539Q,H591P,I481R,K322R,K338E,K338R,K576R,K598E,K689E,L146S,L364V,L420V,L588F,L672I,M193L,N173D,N316T,N555D,P2T,P336L,P460L,R211L,R211Q,R257G,R257I,S305P,S331N,S417P,S78G,T422A,V62G,V85I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284443 1203 dbsnp11118 NP_001028198.1 "A187V,P469T,P504L,R107S,R564W,S486L,T594A,V82I" "0,0,0,0,0,0,0,0" 91304 4919 dbsnp1112 NP_079401.2 "H56N,K84R,R117L" "0,0,0" 80195 14362 dbsnp11130 NP_001123639.1 "D170E,F231V,G127R,G86S,I101V,I290N,I38T,I66M,I88R,L18I,L205F,L334F,M126K,N157K,N248I,N248S,P149H,P149L,P149S,P222T,P419S,P8L,Q114R,Q315P,Q363R,R12H,R220Q,R320H,R345H,R397H,R98Q,S23L,S375P,T10I,T168S,T342I,T43P,V349D,V349I,V349L,V83I,Y322D,Y91H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440533 7855 dbsnp11138 NP_001027020.1 "E422K,P415L" "0,0" 5675 7855 dbsnp1114 NP_660349.1 "D66V,H84Q,T21A" "0,0,0" 219738 14393 dbsnp11141 NP_996554.1 "I101S,R192H,R229W,R58W" "0,0,0,0" 126014 11178 dbsnp11149 NP_001014763.1 "A89V,E40A,P52L,V79I" "0,0,0,0" 2109 9781 dbsnp11153 NP_005806.2 "A189V,A233D,C376Y,C651R,E254K,E579G,G101S,G322S,G482R,H131R,H599D,H671Y,K480T,K483N,L481R,P196S,P433H,P531L,R441K,S434N,T142M,T14I,T218M,T497A,V549L,V72I,Y281C,Y449C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10224 3684 dbsnp11157 NP_001690.2 "A14T,A18V,A2V,D630A,D630G,G508S,N796T,Q361P,R524W,S747R,T149A,V194I,V289M,W439L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 558 2640 dbsnp11161 NP_808211.1 "A201E,A201G,A201V,C262R,D245N,G60R,P26R,P305S,R106C,R284W,R55Q" "0,0,0,0,0,0,0,0,0,0,0" 8612 10678 dbsnp11165;hgmd0613_688 NP_001124295.1 "A147G,G244E,G876R,H1476Q,H97R,I327F,I327L,I327V,I544M,L309V,Q326P,R1033W,R136C,R1482C,R69H,T1220I,T796M,V120L,V972M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1786 701 dbsnp11168;hgmd0613_767 NP_001401.2 "A2358T,C1366Y,D2554G,E1707Q,H1829Y,H750R,I2245V,K1691E,L1694V,P2491L,P719R,R1439C,R1716H,R2045Q,R2407H,R2659C,R2742K,R937W,T2456A,V2283M,V2285M,V2502I,V2521M,V2525M,Y1606C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1954 179 dbsnp1117 NP_001120683.1 "D618H,K183Q,L262F" "0,0,0" 57698 4789 dbsnp11176 NP_001137410.1 "D12N,E302A,E83G,F153S,G276E,H208Y,H578Y,I76V,N570K,P297T,Q5P,R617W,S644I,S654R,T57N,T629A,T90A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147658 2403 dbsnp11181 NP_001096067.1 "A41V,C512R,C512Y,I127V,L389I,R113H,R334Q,R386S,S355L,S369F,T482I,V108I,Y470C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 125931 5188 dbsnp11186 NP_001158001.1 M108V 0 7694 4254 dbsnp11188 NP_003427.3 "A160G,D10N,D622N,E329K,E579K,G138C,G22D,G591R,H257P,H612R,H621Q,I298V,I550V,K59M,M1L,N214K,P393S,P589L,R205C,R205H,R441Q,S238R,S267L,S519L,S600G,S604L,T247M,T529A,Y450C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7694 4254 dbsnp11191 NP_001180197.1 "E436D,G29C,G507R,G626S,L388F,L504V,M234V,R267Q,R485H,R558H,W17G" "0,0,0,0,0,0,0,0,0,0,0" 24139 2900 dbsnp11193 NP_004136.2 "E1124G,G1280S,G1455S,L738I,R423Q,S1011A,S2018L,T951M,V1182G,V1693A,V2052A" "0,0,0,0,0,0,0,0,0,0,0" 4650 354 dbsnp11195 NP_001034743.1 "A153T,D21A,E16K,H380Y,I318T,P101L,P189T,R258W,R67Q,T103I,T353P,V178I,V8A" "0,0,0,0,0,0,0,0,0,0,0,0,0" - 7651 dbsnp11196 NP_653215.2 "G124S,G208R,R201Q,R201W" "0,0,0,0" 125997 12797 dbsnp11199 NP_001230055.1 "L54P,M1L,P21H" "0,0,0" 5650 11845 dbsnp11200 NP_001073903.1 "S1088N,V230M,V929L,V938A" "0,0,0,0" 114783 846 dbsnp11207 NP_689686.2 "I416T,I420T,L391F,N383D,N411S,P338L,P474L,S403N" "0,0,0,0,0,0,0,0" 147664 6062 dbsnp11208 NP_001180304.1 "A132P,A186V,R187W,T221A" "0,0,0,0" 126328 12371 dbsnp11209;dbsnp11210 NP_001129481.1;NP_001129482.1 "L39H,P36R" "0,0" 5349 14033 dbsnp11211;dbsnp11212 NP_689868.1;NP_954577.1 "A372T,F141L,G155R,G585R,H49Q,L314M,L567V,M412I,Q89L,R263H,R423Q,R423W,S592A,V287I,V572I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199704 2882 dbsnp11213 NP_009069.1 "A534V,E456G,F173L,G375S,I473V,I501K,I501V,K193R,R106C,R249I,S269F,T469A,V125G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7643 1203 dbsnp11217 NP_000753.3 "A153P,A153S,E330D,E419D,E97K,F118L,G479V,I331T,I471T,K476R,M275I,M352T,M6L,N418D,N438Y,Q239K,R128L,R128Q,R203C,R203H,R203S,R265Q,R274H,R346W,R372H,R485L,S131A,S29N,T212R,T294S,V110L,V292M,V365M,V68M,Y351H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1548 6755 dbsnp11221 NP_604389.1 G63S 0 8625 11696 dbsnp11224;dbsnp11226 NP_001186137.1;NP_001186138.1 "M74V,Q86H" "0,0" 4051 6107 dbsnp11229 NP_001005851.1 "A412T,D413G,E418Q,L736F,P388T,R512G,R567H,R576Q,R652C,R791K,T690I,V681G" "0,0,0,0,0,0,0,0,0,0,0,0" 163131 2996 dbsnp1123 NP_005510.1 "A215V,A222G,P34R,S185R" "0,0,0,0" 3167 11422 dbsnp11236 NP_001177693.1 "G30V,P14S" "0,0" 388564 13441 dbsnp11247 NP_001008401.3 "A171G,E581K,E603Q,F196L,G248C,G528S,H130Y,H147L,H428Y,H652Y,H709R,I122S,I678V,K115E,K185Q,N225S,N436I,N698D,R346L,R401H,R567C,R644H,S573T,T282M,V168I,Y662H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388561 1203 dbsnp11250 NP_001025218.1 E217K 0 354 11641 dbsnp11252 NP_001171019.1 "A22P,D98Y,G289S,L273F,L57V,P246S,R112Q,R240W,R52S,T225N,T329P" "0,0,0,0,0,0,0,0,0,0,0" 946 7522 dbsnp11257 NP_009084.2 "A222T,A321V,A492V,A561T,A953T,C1003S,D1035G,E1145K,E1201Q,E260D,E282K,E456Q,F1125Y,H191Q,I271V,I467L,I679L,K192E,K227N,K232E,K640E,L272F,N285Y,N476T,P452T,R147H,R230K,S256P,S298L,S961N,T1024S,T989S,V417L,V98L,Y37C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7757 1203 dbsnp11261 NP_001138486.1 "A277T,D43N,G259E,K40R,T147A,V179E" "0,0,0,0,0,0" 342931 9015 dbsnp11266 NP_001171829.1 "A306T,A442P,E204A,E388D,E50D,F102I,G198S,G356R,H87P,I173V,I248S,L101W,L517V,P18L,P325R,P386L,Q257R,Q462R,R40W,R459W,R495Q,R495W,S39P,T208M,T95I,V182F,V230G,V284M,V489M,V529M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22900 6035 dbsnp11290;dbsnp11291 NP_067054.1;NP_001074012.1 "A499V,R63Q,S108L" "0,0,0" 58509 3537 dbsnp11300 NP_001138874.1 "A137T,A427V,A635V,A715T,C338Y,D349E,E179K,E782K,G33C,K629E,L406P,L696F,M175I,M879V,P588L,P711R,P918L,R129H,R151C,R202H,R259H,R480Q,R741H,S608F,S611A,V245I,V869M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284418 2485 dbsnp1130;dbsnp1133 NP_115703.2;NP_932163.1 "K164R,R309H,R38H,V89L" "0,0,0,0" 84287 9050 dbsnp11317 NP_001166122.1 "A432T,D94G,D94V,H470P,H470R,I455F,K431T,K65E,K72N,M98V,P242S,P311L,Q187K,R222H,S464T,S64C,T112M,V441I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7730 6995 dbsnp11324 NP_001139257.1 "G365S,S194C" "0,0" 100271849 9243 dbsnp11337;hgmd0613_856 NP_001952.1 "G95S,H108Q,H769Q" "0,0,0" 1938 2850 dbsnp1134 NP_002720.1 "P133S,S202N" "0,0" 3087 11491 dbsnp11346 NP_001161341.1 "L164F,S180L" "0,0" 55101 11631 dbsnp11350;dbsnp11351;dbsnp11352 NP_001070959.1;NP_001070960.1;NP_036559.1 "I172V,R117H,R223K,R268Q" "0,0,0,0" 25818 11027 dbsnp11355;dbsnp11356;dbsnp11357 NP_057003.2;NP_001139692.1;NP_001027546.1 V83E 0 7769 2540 dbsnp11358;dbsnp11359 NP_001189482.1;NP_006524.1 "A37V,I107V,I12T,I45S,R66W,T113I" "0,0,0,0,0,0" 8190 14230 dbsnp11360 NP_037400.1 "E46K,K87R,R115Q,R67H,V104A,V20M,Y8C" "0,0,0,0,0,0,0" 29124 13578 dbsnp11367 NP_068377.2 "A84T,G395S,I203V,R243H,Y182H" "0,0,0,0,0" - 6022 dbsnp11369 NP_001036145.1 "A84T,G395S,I203V,R243H,Y182H" "0,0,0,0,0" - 6022 dbsnp11375 NP_940878.3 "A174V,F38S,M176T,P282L,Q167L,R70P,T2A,V208A,V330M" "0,0,0,0,0,0,0,0,0" 284325 9637 dbsnp11377 NP_001139014.1 "A223T,A22T,D312E,G435E,G472D,R53H" "0,0,0,0,0,0" 65982 5607 dbsnp1138 NP_079065.2 "G2E,L480M,M498V,R255Q,R258Q,R395C" "0,0,0,0,0,0" 79847 6367 dbsnp11382 NP_037414.3 A11S 0 29128 3170 dbsnp1139;dbsnp1140 NP_001092301.1;NP_849154.1 R111C 0 118812 14000 dbsnp11405 NP_055024.2 "D225Y,D90N,G313A,L28V,R238G,R323C" "0,0,0,0,0,0" 2116 9865 dbsnp11408 NP_919442.1 "G105S,P117L,P41L,V68M" "0,0,0,0" 55658 10243 dbsnp1142 NP_694958.1 "A156T,Q128R,S208P" "0,0,0" 159371 9303 dbsnp11427 NP_001094810.1 R48H 0 199800 13867 dbsnp11432;dbsnp11433 NP_060913.2;NP_001012320.1 "D122N,E74D,H15Q,R312H,S217N,T278I,Y89C" "0,0,0,0,0,0,0" 55900 5541 dbsnp11438 NP_001096637.1 "I268V,R112H,V263G" "0,0,0" 100125288 11471 dbsnp1144 NP_067068.1 "G115S,G125R,Y218D" "0,0,0" 58529 10893 dbsnp11441 NP_001119531.1 S6F 0 93099 7078 dbsnp11443 NP_201574.3 "A415S,E69D,G280D,G280S,G284S,G454R,N139S,P23T,R426I,S248I,S276G,S276N,S277N,S278G,S281N,S282N,T230M,V128A,V135L,V91A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93099 7078 dbsnp11450 NP_055778.2 "A599V,P694S,P694T" "0,0,0" 22904 1039 dbsnp11452 NP_001139113.1 "D640N,D694N,E482K,G203S,K228R,L702F,N358S,P278L,P29R,R114P,R253K,R333I,R369G,R523L,S263T,S462T,S515P,S524P,S639R,T260I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100170229 3922 dbsnp1146 NP_005165.1 I169V 0 509 10917 dbsnp11472 NP_001001563.1 "A170V,A412E,A412V,E431K,F37S,G159A,M1T,N207S,P451S,P73R,P73S,Q40H,S83T" "0,0,0,0,0,0,0,0,0,0,0,0,0" 92609 7475 dbsnp11477 NP_077299.3 "A128D,A401V,D168E,D31Y,D491E,G267R,G463C,G577R,G64R,L155F,L466F,L637W,L92V,P194T,P407A,P440L,Q253R,Q500R,R124C,R474H,R589W,R603H,R607Q,R629Q,T442R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79173 4397 dbsnp1148 NP_001025059.1 "K42R,L79V" "0,0" 118670 14585 dbsnp11480 NP_001035754.1 "A206T,A323V,A507T,D760G,E606K,G357R,G358V,H131P,I387V,Q408R,R320Q,R410Q,R417Q,R417W,R696W,R727W,S544N,S586G,S769N,T280A,V569A,V692M,Y681C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 692312 3260 dbsnp11481 NP_001185619.1 "A488D,A519V,P460L,P520L,R430G" "0,0,0,0,0" 692312 3260 dbsnp11482 NP_064615.3 "A206T,A323V,G357R,G358V,H131P,I387V,Q408R,R320Q,R410Q,R417Q,R417W,R430G,T280A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56342 3260 dbsnp11485 NP_001182185.1 "E199Q,F165L,H234N,K53T,L358V,M36T,N202S,P169L,P23S,P367T,P82A,R438G,S377N,T222N,T512M,V345A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100507003 6350 dbsnp11489 NP_001191747.1 "A321T,A49V,C400R,Q139H,R238G,S191T,S284T,V255A,V83M,Y270H" "0,0,0,0,0,0,0,0,0,0" 100293516 2862 dbsnp11502 NP_001180550.1 "G163E,G48R,G82R,H6R,K160R,M67R,T5N" "0,0,0,0,0,0,0" 390940 12372 dbsnp11505 NP_001139122.1 "C353S,L113I,L113V,M197V,Q185P,R242G" "0,0,0,0,0,0" 57711 4279 dbsnp1151 NP_004799.1 "I140V,N188I,R204H" "0,0,0" 9397 6701 dbsnp11517 NP_291021.2 "N111K,T200I" "0,0" 90273 11021 dbsnp11519;dbsnp11520 NP_001123578.1;NP_036399.3 "D116N,G25V,G266E" "0,0,0" 23640 9463 dbsnp1152 NP_004089.1 "S242N,S41A" "0,0" 2018 11870 dbsnp11521;dbsnp11523 NP_001166163.1;NP_001166160.1 "F298S,G136A,H144Q,K379E,L117P,M435V,N368D,P157L,R198H,R401W,R84C,S85R,Y282C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 126231 4111 dbsnp11539 NP_612630.1 "D18N,E150D,G135A,H55R,P134L,R44C,R71L,R87W,R97H" "0,0,0,0,0,0,0,0,0" - 13532 dbsnp1154 NP_001182446.1 G31D 0 3195 10149 dbsnp11545 NP_078803.4 "E25G,G70R,P17S,P428T,V21M,V272L,V27I" "0,0,0,0,0,0,0" 79575 7791 dbsnp11553 NP_004221.3 "A225T,E177K,H189D,N10K,R211H,R217H,R60Q,V241I,V276I,V286A" "0,0,0,0,0,0,0,0,0,0" 9294 9594 dbsnp11563 NP_001161694.1 "H167Y,L28I,L66P,N271D,N491S,P145L,R125C,R262C,R262S,R272W,R284H,R339H,V257M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79735 4608 dbsnp11580 NP_065760.1 "G141A,G145R,G163S,G409E,G474S,G600R,M1I,M58V,N166H,P130R,Q40L,R11Q,R251S,V401I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57469 4745 dbsnp1159 NP_569157.2 A43T 0 4601 10987 dbsnp11591;dbsnp11592 NP_079070.1;NP_001136358.1 "A176T,A353V,A65G,P333S,R192Q,R321C,S197G,Y89C" "0,0,0,0,0,0,0,0" 79852 9431 dbsnp11609 NP_071907.4 A38G 0 64344 4388 dbsnp1161 NP_001001976.1 "D145E,E511K,L167F,P360A,T466M,Y403C" "0,0,0,0,0,0" 11101 6348 dbsnp11613 NP_940880.3 "A683E,C188S,H542Q,Q737E,R160W,R788G,R97Q,S52F,T132M,V340L" "0,0,0,0,0,0,0,0,0,0" 284353 3026 dbsnp11621 NP_116242.2 "A252T,C489G,D243H,G220R,G503R,G552R,R118Q,R149I,R710C,R710G,S129F,S164L,S164W,V192F,V613M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84939 3961 dbsnp11622 NP_001139137.1 "C322Y,E461K,G298R,I235T,I455S,K117E,R253H,R267C,R267H,R566S,S463N,Y122H" "0,0,0,0,0,0,0,0,0,0,0,0" 339318 5541 dbsnp1163 NP_056537.1 "A197T,E139K,V46M" "0,0,0" 50632 12594 dbsnp11632 XP_001725620.2 "C295S,C5S,D269G,E19G,E21D,E54K,F50Y,G13E,K258Q,K442N,L473P,M96V,N265K,P14S,P151A,Q181R,Q24R,R120Q,R155K,R173H,R390T,R399C,R399H,S17R,S247R,S286N,S376T,T233M,T42I,V359M,W9C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 6679 dbsnp11633 NP_004482.4 "A892T,D1020H,D395V,I1186M,R433Q,R689Q,R763C" "0,0,0,0,0,0,0" 2909 822 dbsnp11638 NP_115829.1 "H213R,N222H,P301L,S108P" "0,0,0,0" 84503 5034 dbsnp11644 NP_001182196.1 "R941C,R941P,R946G" "0,0,0" 284297 760 dbsnp11645 NP_001166244.1 "A70S,A85T,I499V,K468E,P7S,V80M" "0,0,0,0,0,0" 147694 3378 dbsnp11647 NP_001182005.1 "M84V,R38Q,R69W,S77A,T31I,V54L" "0,0,0,0,0,0" 342918 13020 dbsnp1164;dbsnp1165 NP_996895.1;NP_036227.1 "D104E,G160R,I139V,N164H" "0,0,0,0" 26985 8211 dbsnp11650 NP_079009.3 "H157R,H424L,I15T,I559V,M114T,N349S,V647I,V84A" "0,0,0,0,0,0,0,0" 79788 2403 dbsnp11652 NP_001005193.1 "A275S,F302V,G130D,K257N,N86S,P196L,P330L,Q121R,Q4R,R111Q,R152I,R290G,V284A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390882 9806 dbsnp11657 NP_001177277.1 S380W 0 93099 7078 dbsnp1166 NP_001091953.1 F119L 0 282969 13837 dbsnp11660 NP_112490.3 "A220T,A50T,D131N,I294V,K144E,L159R,L53S,R320H,R95H,R98H,S195T,S205A,V38G,V99I,W66R,Y198S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81926 9399 dbsnp11666 NP_001177773.1 "A151T,A204T,E272K,H271R,M284T,V9M" "0,0,0,0,0,0" 100130519 11085 dbsnp11673 XP_001726930.1 "A82D,C104Y,E106A,E128K,I97T,P73A,P73R,Q7R,R141S,R57Q,R57W,R85W,T26A" "0,0,0,0,0,0,0,0,0,0,0,0,0" - 1203 dbsnp11674 NP_001073878.2 "A129G,A349T,C374S,E365G,E673K,H126Y,H604Q,H807R,I217S,K258T,K416T,K507I,M65T,N547S,P256T,P312H,Q190R,R582K,S459I,T140I,T635I,W7R,Y163H,Y593C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7652 1203 dbsnp11675 NP_115677.2 "G376S,N375S,R221Q,R374C,R70K,T219A,V399M" "0,0,0,0,0,0,0" 84261 6869 dbsnp11678 NP_612362.2 "A202T,G191D,P283T,R433Q,S46N,V338A" "0,0,0,0,0,0" 90379 5139 dbsnp11679 XP_372741.4 "A123E,C74W,I119V,I32V,K159T,L100P,S99Y" "0,0,0,0,0,0,0" 390956 121 dbsnp1168 NP_665805.2 "C109R,D123N,D194Y" "0,0,0" 118472 11871 dbsnp11690 NP_001012771.1 "R359G,T338M,V212F,Y327H" "0,0,0,0" 284390 3684 dbsnp11693 NP_443084.2 "C212Y,E375D,G118S,H400Y,H424Y,I230L,L142V,S261T,T255I" "0,0,0,0,0,0,0,0,0" 90649 1203 dbsnp11696 NP_940859.2 "A598S,C251Y,C332F,C332Y,D672H,G466R,G560S,H28R,H292D,H73R,H94Y,K106R,K331R,K359R,K673N,M157T,M60T,P129R,P183L,P183T,R508H,R573H,R649S,S120L,T585M,T585R,V586I,V592M,Y139H,Y156H,Y540S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162966 2403 dbsnp11699 NP_620129.2 "L176V,L89P,M187I,R242Q,V118A,V133I" "0,0,0,0,0,0" 91300 11525 dbsnp11700 NP_060267.2 "D515E,I360T,S334L,S344N,S373I" "0,0,0,0,0" 55643 6218 dbsnp11704 NP_001243100.1 "M83I,Q114R" "0,0" 7639 1203 dbsnp1171 NP_751913.1 I117V 0 818 4409 dbsnp11715 NP_660276.2 "D49Y,G337D,V107M,V346I" "0,0,0,0" 90589 4407 dbsnp11716 NP_001164631.1 "C294R,G229R,G282S,K231R,L279F,N209D,P168S,P179L,P179T,P222T,P228R,Q144K,R156K,R164H,R237H,R251Q,S214L,T425K,T51I,V104A,V159I,V257L,V353I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 5931 dbsnp11720 NP_443116.2 "A365G,A630G,D160H,D600N,E65K,E96A,G376S,H446R,I51M,K111R,K157Q,L358V,P109H,P380R,R322P,R388C,R388G,R486G,R77W,S33T,S448F,S620R,V42G,V581L,W406G,W487G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114132 4093 dbsnp11723 NP_001104292.1 "A346T,D142H,N238D,T181A,V111I" "0,0,0,0,0" 91646 8695 dbsnp11732 NP_001180552.1 "A28E,N39S,R112K" "0,0,0" 147646 13250 dbsnp11749 NP_714912.1 R351H 0 3594 4455 dbsnp11760 NP_001129971.1 "C207Y,E349A,H339Y,I897T,N334S,Q443E,R476W,R861P,S748P,T905P,V141L,V36M,V605G,V745L,W784R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284371 2403 dbsnp1177 NP_006553.2 A207V 0 10660 11256 dbsnp11770 NP_001243724.1 "A58T,C15R,C94Y,R3Q,T62A,T76A" "0,0,0,0,0,0" 100129083 14478 dbsnp11775 NP_001243370.1 "A289S,E237K,N46D,R122C,R122H,R300Q,R356W,S89T" "0,0,0,0,0,0,0,0" 126526 8121 dbsnp11777 NP_001091994.1 "A293E,D182Y,D29N,G22E,G292R,G529S,G531C,G603S,L532V,L543F,R109Q,R127C,R225W,R622Q,R99H,S366L,S598Y,T358M,T493M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199786 4099 dbsnp11778 NP_775815.2 R663K 0 199786 4099 dbsnp11780;dbsnp11782;dbsnp11783 NP_001073349.1;NP_001073350.1;NP_057541.2 "A191V,A339T,A62D,E873K,G493A,P486L,R208C,R649C,S259C,S604G,T227N,V324M" "0,0,0,0,0,0,0,0,0,0,0,0" 25865 2542 dbsnp11789 NP_001017921.1 "R109C,R109H" "0,0" 400673 13562 dbsnp11790 NP_001229830.1 "I199L,R141Q" "0,0" 100131094 12616 dbsnp11798 NP_001129606.1 "A34T,I64L,N36S,P148S,P154S,R79P,T130I,W153G" "0,0,0,0,0,0,0,0" 6158 13563 dbsnp1180 NP_001138915.1 "A128V,E74K,P435L,V19I,V397I" "0,0,0,0,0" 5209 6310 dbsnp11814;hgmd0613_1303 NP_005018.1 "A548V,R101C,R16C,R469Q,S273C" "0,0,0,0,0" 5296 3800 dbsnp11820 NP_612383.1 "A240T,E157Q,E807D,H937Q,I188V,M210T,N470K,P634L,R262H,R561H,R813H,R841H,S189F,S645G,T839P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91664 1203 dbsnp11823 NP_055331.1 "A536T,G304S,P314S,P472S,S491A,T134M,T478M" "0,0,0,0,0,0,0" 4849 3587 dbsnp11824 NP_001165450.1 "C410G,F274S,P115R,R203K,S56C" "0,0,0,0,0" 374899 6433 dbsnp11830 NP_954583.1 "C129F,E446G,E45K,F162L,G424R,G71D,H321R,I100V,I379T,K179I,L457F,L93S,M157L,N417D,P59S,P98L,Q110E,Q405E,R341C,R82H,S6L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 2403 dbsnp1184 NP_061931.1 "E41G,M119I,S111F,S194T" "0,0,0,0" 54541 12297 dbsnp11840 NP_001193903.1 A25D 0 1725 9212 dbsnp11843 NP_065139.2 "E239Q,G347D,G431R,H31L,M237T,T247M,T343N" "0,0,0,0,0,0,0" 57126 7822 dbsnp11846 NP_001159506.1 "A145V,A250V,A321V,A419G,G8S,H464R,N529S,Q172K,Q522H,S359G,T79I,V585I" "0,0,0,0,0,0,0,0,0,0,0,0" 374897 5272 dbsnp1185 NP_001171712.1 H24Y 0 7417 10675 dbsnp1186 NP_689920.1 "M325I,R81H,V60L" "0,0,0" 8034 10100 dbsnp11862 NP_001073938.1 "D528E,P38T" "0,0" 23403 5106 dbsnp11863 NP_612367.1 "A108S,D225N,H191Y,T223I,V221M,W178R" "0,0,0,0,0,0" 90580 11712 dbsnp11866 NP_001164106.1 R344C 0 64748 8007 dbsnp11867 NP_112486.1 "A28T,L117M,L117V,P43T,V161M,V271M" "0,0,0,0,0,0" 81890 8531 dbsnp11874 NP_001123543.1 "F20L,P18L" "0,0" 29924 4463 dbsnp11895 NP_067064.2 "R560Q,V473I,V665M" "0,0,0" 58525 3261 dbsnp11897 NP_872304.2 "A147D,E18D,R140Q,R149Q" "0,0,0,0" 126299 13217 dbsnp11898 NP_000970.1 "A80V,D10E" "0,0" 6141 13218 dbsnp11899 NP_001271.1 T17A 0 1153 13512 dbsnp119 NP_004043.2 "R78K,R78S,S70L" "0,0,0" 664 13102 dbsnp11902 NP_004209.2 "G206R,V122L" "0,0" 9230 12576 dbsnp11910 NP_003746.2 "A118V,M229V,R83C,R83G,T68I" "0,0,0,0,0" 8666 10402 dbsnp11911 NP_598005.1 "G72S,L13V,R67Q,T88I" "0,0,0,0" 171169 14346 dbsnp11915 NP_001139185.1 "G264R,N276I,V247I" "0,0,0" 10055 9773 dbsnp11918 NP_036313.3 "A87V,P117L,P191A" "0,0,0" 23770 8320 dbsnp1193 NP_001167627.1 "D81E,N391S,T356R,Y363C" "0,0,0,0" 142891 8282 dbsnp11930 NP_258429.2 "C55R,K389Q,K73R,R442Q" "0,0,0,0" 113835 1203 dbsnp11931 NP_055830.1 "A578P,C13S,D953N,E264V,G1073R,K381T,P597L,R584C,V531M" "0,0,0,0,0,0,0,0,0" 23030 1727 dbsnp11936;dbsnp11937;dbsnp11938;dbsnp11939;dbsnp11940 NP_001229405.1;NP_003410.1;NP_001229401.1;NP_001229403.1;NP_001229404.1 "A272T,E402Q,G242A,L105V,Q109E,S156T,S268T,T134I,T309S" "0,0,0,0,0,0,0,0,0" 25850 3511 dbsnp1194 NP_064585.1 "D128G,E6K,G145R,M1I,Y223C" "0,0,0,0,0" 56952 12443 dbsnp11942 NP_001166101.1 S560C 0 115703 1637 dbsnp11943 NP_002507.1 "T62P,V156M" "0,0" 4858 6535 dbsnp11945 NP_938074.2 "E144K,E186K,R94H" "0,0,0" 3276 8709 dbsnp1195 NP_001010917.1 S16L 0 401647 13594 dbsnp11951 NP_005925.2 "A297T,G313A,P329L,S211N,S230L,S380T" "0,0,0,0,0,0" 4298 5581 dbsnp11952 NP_001192202.1 "H49L,N13D,P29L,R147Q,S34A" "0,0,0,0,0" 100507527 13957 dbsnp11955 NP_277048.2 "A68V,E46Q,P136Q,R197H" "0,0,0,0" 91978 11103 dbsnp11957;dbsnp11958 NP_001129491.1;NP_004098.1 "C71Y,G306S,K132N,R194H,R237W,R287K,S297T,V298L,V300M" "0,0,0,0,0,0,0,0,0" 2217 9306 dbsnp1196 NP_006318.1 "R175Q,S43C,T183I" "0,0,0" 100287932 12771 dbsnp11961 NP_002686.2 "F44Y,K15R,M110V,R101W,S49N" "0,0,0,0,0" 5434 12742 dbsnp11962 NP_001396.2 "R161Q,S101Y" "0,0" 1943 12682 dbsnp11965 NP_113605.2 "R665K,S642L" "0,0" 57787 3250 dbsnp11970 NP_689818.2 "G136R,H103R,I223L,I327M,L266S,R106Q,S162N,T97M,V253A" "0,0,0,0,0,0,0,0,0" 163115 10226 dbsnp11971 NP_059128.2 "G15D,I252V,Q297H,V253I" "0,0,0,0" 53635 8265 dbsnp11974;dbsnp11975;dbsnp11976 NP_974199.1;NP_005707.1;NP_974197.1 "A226V,G23A,R215C,R332C,R91C,T238S" "0,0,0,0,0,0" 10755 10078 dbsnp11978 NP_001139443.1 "A93T,F288L,N92K,R105G,S32G" "0,0,0,0,0" 112724 10125 dbsnp11982 NP_940934.1 "A193V,D127N,L186P,L230M,P10S,P16S,R147H,R66W,R87Q,S289I" "0,0,0,0,0,0,0,0,0,0" 374872 7154 dbsnp11983 NP_150639.1 "D181Y,D228N,K53T,M1I,R142Q,R150C,R202W,R27K,T143S" "0,0,0,0,0,0,0,0,0" - 1850 dbsnp11986 NP_597709.2 "E196K,E290D,E39K,N537K,P54L" "0,0,0,0,0" 125950 3560 dbsnp11988 NP_061961.2 "D468H,G423D,N373T,R494Q,R494W,R498C,S505G,S505N,T116A,T200I" "0,0,0,0,0,0,0,0,0,0" 54623 6119 dbsnp11989 NP_001243755.1 "A435V,G423R,I456T,M396I,V434M" "0,0,0,0,0" 54623 6119 dbsnp11992 NP_005574.2 "G119V,P219L,R48Q,S126N" "0,0,0,0" 4066 11280 dbsnp11993 NP_001243142.1 R10K 0 478 1921 dbsnp11996 NP_001013681.2 "I133V,I68M,L400F,R340H" "0,0,0,0" 390927 8474 dbsnp11997 NP_776256.2 "A117G,F32L,H126R,M202T,N220D,P63T,R58C,R58P,V109I,V127A,V16M,V25L" "0,0,0,0,0,0,0,0,0,0,0,0" 317703 8685 dbsnp12005 NP_001182064.1 "A242P,A274T,C3F,D281N,P232A,P276R,V206G" "0,0,0,0,0,0,0" 646862 10177 dbsnp12012 NP_001189335.1 "A5V,C188Y,C419Y,D82G,E255K,E390K,G35D,L70W,N113K,Q446P,R2H,R409Q,R490Q,S513C,S513Y,S517R,T315N,V362A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84527 5115 dbsnp1202 NP_714925.2 "E137V,I16T,M111V,N168H,S140N" "0,0,0,0,0" 256815 13266 dbsnp12026 NP_002902.2 A1045V 0 5976 1632 dbsnp12029 NP_001172029.1 "R751L,R751Q" "0,0" 933 2912 dbsnp12036 NP_060937.1 "A38V,S146A" "0,0" 55850 11723 dbsnp12040 NP_001035515.1 H164N 0 199746 12127 dbsnp12042 NP_003240.1 "C350R,E42K,L204V,P327A,R348H,R36C,R418W,R441H,S635G,T186M,T494I,Y471F" "0,0,0,0,0,0,0,0,0,0,0,0" 7064 4044 dbsnp12044 NP_991330.1 "G20V,R4W" "0,0" 125988 14428 dbsnp1205 NP_079230.1 "D169N,I184L,R25C,R25H" "0,0,0,0" 80019 12254 dbsnp12055 NP_055215.2 "C161Y,D174N,G317E,L24P,M49V,N118S,P294S,R201W,R226H,R226L,T247K" "0,0,0,0,0,0,0,0,0,0,0" 27076 9782 dbsnp12057 NP_055464.1 "A756S,A861T,E515D,G815S,K535E,Q913R,R897C,T457A" "0,0,0,0,0,0,0,0" 9667 2322 dbsnp12058 NP_004231.1 "A440T,E459Q,E507K,F67L,K66E,L403F,L89P,P436S,Q133E,S180G,S235L,S235W,S386G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9322 4950 dbsnp12071 NP_077013.1 "G28E,K45E,P27T,T70M,V153M,Y107N" "0,0,0,0,0,0" 79090 13494 dbsnp12075 NP_078986.1 "L129F,P99L,P99S,Q36L,R141W" "0,0,0,0,0" 79763 12515 dbsnp12078 NP_579874.1 "F30Y,N141S,P153T,Q143H,R131C,S25P,Y117C" "0,0,0,0,0,0,0" 162989 10251 dbsnp1208 NP_001092808.1 "A160T,E546K,G199R,G309S,G545S,L563Q,P560L,R327K,R875H,T566I" "0,0,0,0,0,0,0,0,0,0" 728118 2725 dbsnp12080 NP_005592.1 "G157S,R116Q,R116W,T113A,T164I,V73M" "0,0,0,0,0,0" 4818 13627 dbsnp12082 NP_570719.1 "E127K,K154Q,R108Q,R20C,R214Q,T111M" "0,0,0,0,0,0" 126308 11528 dbsnp12087 NP_065770.1 "A1340V,G504E,K1266N" "0,0,0" 57479 406 dbsnp12089 NP_001129607.1 G115E 0 6158 13563 dbsnp1209 NP_077302.3 "D272N,L116M" "0,0" 79176 10858 dbsnp12093 NP_005489.2 "G224D,Y85C" "0,0" 10053 7870 dbsnp12094 NP_001191047.1 "D23E,K86R,L122P" "0,0,0" 388512 9025 dbsnp1210 NP_114072.1 "R134G,S11L,T158P" "0,0,0" 8325 4128 dbsnp12105 NP_060519.1 "R123Q,T126M" "0,0" 55111 13940 dbsnp12106 NP_001153318.1 "A315T,P108L,P403L,R235W" "0,0,0,0" 84954 7190 dbsnp1211 NP_004087.1 D105H 0 1979 14403 dbsnp12115 NP_079470.1 "D116V,D143N,D364E,E132G,E243D,L195F,R428Q,R439H,V403I,W241R" "0,0,0,0,0,0,0,0,0,0" 80271 4249 dbsnp12120 NP_001093889.1 A142T 0 55049 12949 dbsnp12122 NP_689566.1 "A98V,C55F,D86N,G144C,L91P,T32I,V124F,V20D" "0,0,0,0,0,0,0,0" 125875 13601 dbsnp12128 NP_002803.2 "A66V,R344Q" "0,0" 5714 9669 dbsnp1213 NP_998814.1 "P52A,S100N,S100T" "0,0,0" 119559 9969 dbsnp12130;dbsnp12131 NP_666499.1;NP_057040.2 "H223Y,K50T,L283R,M253V,R279H,R60C,T307S,V180I,Y284H" "0,0,0,0,0,0,0,0,0" 51073 10639 dbsnp12133 NP_037474.1 "A251G,A251S,E116Q,F223S,P175S,Q115H,R132W,R200C,R90W" "0,0,0,0,0,0,0,0,0" 29844 11850 dbsnp12137 NP_076979.1 "A131V,D260N,V247M" "0,0,0" 79041 10897 dbsnp12138 NP_076934.1 "A179V,A274V,A304T,G166A,G166D,L227M,P104S,P307L,R105Q,R112W,R118Q,R193H,R252C,S152P,V267L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 78992 10513 dbsnp12139 NP_004834.1 "A332S,A332T,L188P,N366S,P181L,P229L,P348S,R94W,T245M,T490I,V326L" "0,0,0,0,0,0,0,0,0,0,0" 9466 4737 dbsnp1214 NP_653190.2 N236K 0 118881 11651 dbsnp12142 NP_443157.1 "I557V,K593Q,K738R,P242H,P267T,R279P,R430C,V739L" "0,0,0,0,0,0,0,0" 114823 3216 dbsnp12146 NP_998733.1 S89F 0 29985 10561 dbsnp12148;dbsnp12149;dbsnp12150 NP_001138817.1;NP_116227.1;NP_001138816.1 "A172T,H154R,R111C" "0,0,0" 84924 2996 dbsnp1215 NP_001029058.1 R117T 0 6387 14087 dbsnp12152 NP_006414.2 "C89S,L83M,L85F,T19A,T19K,T19R,T19S" "0,0,0,0,0,0,0" 10567 13268 dbsnp12153 NP_002369.2 "R15Q,R19C" "0,0" 4145 6519 dbsnp12156 NP_203695.2 "K20R,P153S" "0,0" 114335 13225 dbsnp12157 NP_001229277.1 P68S 0 100287177 14596 dbsnp12159;dbsnp12160 NP_001678.1;NP_001001975.1 A116T 0 513 13579 dbsnp12165 NP_001186753.1 "A96V,L298M" "0,0" 100130827 9464 dbsnp12175;dbsnp12177 NP_077317.2;NP_001037852.1 "E317G,R133Q" "0,0" 79230 7951 dbsnp12180 NP_001034221.1 R182P 0 3386 11443 dbsnp12187 NP_644813.1 "G394S,I429T,Q492K,R256S,T62M" "0,0,0,0,0" 163175 6036 dbsnp12189 NP_001229.1 "D83H,I147V,N260I,N64D,P268L,P295S,P42Q,R54G,Y206C" "0,0,0,0,0,0,0,0,0" 898 8392 dbsnp12190 NP_443180.2 "A840V,G646R,G701E,G799A,G959S,H505R,P127L,P893S,R421C,R746Q,R772H,R999W,S712L,S957A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115703 1637 dbsnp12192 NP_005169.2 "A397T,A430T,M199T,R352H" "0,0,0,0" 602 7513 dbsnp12193 NP_001139018.1 "K39T,V37L,W36R" "0,0,0" 85569 14451 dbsnp12194 NP_001343.2 G24S 0 1628 10281 dbsnp12198 NP_004315.1 A184T 0 581 12577 dbsnp12201 NP_001186125.1 "A131T,A32G,Q433K,R128H,R400C,V474M" "0,0,0,0,0,0" 93436 6647 dbsnp12204 NP_940894.1 "G11S,G138S,K55E,Q101L" "0,0,0,0" 339390 11034 dbsnp12209 NP_002847.1 "D434E,V361A" "0,0" 5819 6019 dbsnp12211 NP_066010.1 "A1069V,E324K,E722K,E873K,E933G,R484S,R626Q,R905Q,S990L" "0,0,0,0,0,0,0,0,0" 57719 1331 dbsnp12216 NP_862829.1 "A321V,A68T,A72V,E14D,E15K,E257Q,E381K,L250V,L451F,P323A,Q129L,S476C,T340I,V130M,V373L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342945 6830 dbsnp12218 NP_001137458.1 "A207G,C548Y,E278G,F120L,G562R,G76A,K269E,P210S,P220R,Q6H,R134Q,R494Q,T292M,V507I,Y432H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79816 5526 dbsnp12220 NP_689867.1 "D82G,R152H,R79H,T88S" "0,0,0,0" 199699 13193 dbsnp12221 NP_065143.2 "A10T,A139V,E556K,E556Q,F1063L,F1193Y,G166R,Q1086E,V792M" "0,0,0,0,0,0,0,0,0" 57130 1409 dbsnp12223 NP_060122.2 "A4P,I361T,I376T" "0,0,0" 54807 12757 dbsnp12225 NP_660319.1 "A3T,D76A,D76G,R213H,R335Q,S126F,Y309S" "0,0,0,0,0,0,0" 147837 4664 dbsnp12226 NP_036220.1 "D125E,D143N,I113V,Q230E,R246C,V199I,V250M" "0,0,0,0,0,0,0" 25796 11754 dbsnp12227 NP_064604.2 "A235S,C176Y,H233Y,N46K,R110C,R111H,R258T,R86W,T150I,T183I,V100M,V53L" "0,0,0,0,0,0,0,0,0,0,0,0" 56971 10862 dbsnp1223 NP_001005463.1 T33A 0 253738 5164 dbsnp12230 NP_001073926.1 "G610W,G6S,N425S,V207I" "0,0,0,0" 94030 3942 dbsnp12231 NP_149059.1 "A325D,A325T,A369V,G328A,P354L,R232Q" "0,0,0,0,0,0" 93650 8026 dbsnp12232;hgmd0613_2476 NP_950238.1 "L210P,R214Q" "0,0" 6324 11526 dbsnp12233 NP_001004318.2 "A30T,C291Y,D319Y,L256S,R89L,S29R,Y162C" "0,0,0,0,0,0,0" 390928 7807 dbsnp12234 NP_940944.1 "A97E,A99P,C221Y,E129Q,H433L,K126E,K179R,K60E,Q12H,Q264E,V107M" "0,0,0,0,0,0,0,0,0,0,0" 374928 6458 dbsnp1224 NP_001165406.1 M1I 0 64072 111 dbsnp12243 NP_075560.2 "A392T,A956V,C80R,D146N,D369N,D917N,I669M,M616V,N710H,P558L,P911L,R127H,R537W,R694H,T629M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65249 2148 dbsnp12246 NP_059976.1 "E173K,G109E,G41R,H269L,H304Y,I214M,M59R,N65S,R122Q,T282S,V203A,V203G,V247G,Y259C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26659 10316 dbsnp12250 NP_653294.1 "F242S,H146R,N323S,Q156H,R85H,T112P,V149M" "0,0,0,0,0,0,0" 148156 7951 dbsnp12251 NP_001129975.1 "D121Y,S80G,T67I" "0,0,0" 284422 14247 dbsnp12252 NP_689870.3 "A216D,A517V,E320K,G547S,H544Y,I245T,P161Q,P176R,P199Q,Q647E,R181Q,R405K,R578G,S567N,S618P,T523I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199720 4575 dbsnp12253 NP_001180481.1 "D278N,G993S,H207R,I142V,I745T,K1068N,P280L,R573C,R685H,R692W,R825C,S709Y,V259M,V55L,V655I,Y477C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342892 1203 dbsnp12258 NP_115583.1 "A285T,A4S,E359K,M95V,P312L,P564L,S519L" "0,0,0,0,0,0,0" 84167 4516 dbsnp12259 NP_002774.2 "G277D,I109V,I83V,N209K,N61S,P361L,P382L,R137C,R288Q,T162M,T259I,T386R,T80I,Y351D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5676 7855 dbsnp1226 NP_003243.1 T264M 0 7073 8760 dbsnp12262 NP_060544.2 "E128D,P240S,P284S,R257W" "0,0,0,0" 55702 10335 dbsnp12263 NP_005308.1 "A41V,A95T,D111E,G52R,R101S,R128W,R217Q,R255Q,R30Q,R37C" "0,0,0,0,0,0,0,0,0,0" 3004 11761 dbsnp12265 NP_065765.1 "A232T,A286S,E419K,H187Q,N42Y,Q41H,R267C" "0,0,0,0,0,0,0" 57474 6157 dbsnp12268 NP_001121798.1 "M1K,T12M,Y57S" "0,0,0" 100131137 14220 dbsnp12271 NP_077008.2 "G65R,H369Q,R239H,R324H,R73H,S124N,V198M" "0,0,0,0,0,0,0" 79085 6612 dbsnp12272 NP_001230929.1 "A2T,L33P,P38L,R79Q" "0,0,0,0" 6689 11643 dbsnp12273 NP_036241.1 "G62D,L330V,R201H,R204C,S329N,V205M" "0,0,0,0,0,0" 25789 9866 dbsnp12274 NP_659413.1 A261T 0 163050 4664 dbsnp12278 NP_064545.1 "A19T,D347N,E107K,E187K,G17S,G181S,G230E,G52S,R320W,R376H,R376L,R84H,V402I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56917 7066 dbsnp12279 XP_001713822.2 "A9G,E463D,Q469H,R420K,R568M" "0,0,0,0,0" - 5450 dbsnp12280 NP_001186224.1 "K564R,L126F,L545P,M113L,N180Y,Q520R,R221H,T133M,T82I,V291I" "0,0,0,0,0,0,0,0,0,0" 256051 4695 dbsnp12282 NP_055746.3 "H53L,H53P,M255R,R692C,S507A,V286M" "0,0,0,0,0,0" 22870 2711 dbsnp12283 NP_689569.2 "C136F,C385Y,E109Q,E290A,H373R,H401R,P214L,R119Q,R175P,R232M,R259G,R427Q,S114Y,T309I,T41I,Y243C,Y397C,Y49C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126069 4664 dbsnp12287 NP_002021.3 "A51T,P19S,T147M,T348M,V47L" "0,0,0,0,0" 2359 9595 dbsnp12288 NP_037433.2 "A54T,G126A,L55P,S137A,T217M" "0,0,0,0,0" 29903 11281 dbsnp12289 NP_060807.2 "G107R,P145S,P315Q" "0,0,0" 55311 10227 dbsnp12292 NP_060152.2 "A493G,L397F,R8Q" "0,0,0" 54831 4398 dbsnp12293 NP_001004456.1 "A91T,G170S,G41E,K90N,L245V,R122L,R122Q,R122W,R165H,S239F,T182I,T25M,V110M,V113I,V167I,V40M,Y102H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 125963 10316 dbsnp12294 NP_001182534.1 "G1045A,P649Q,T899S" "0,0,0" 100507290 1861 dbsnp12295 NP_056075.1 "A374T,P733L,P767L,Q867R,S1002R,S1161L,S122L,S266G" "0,0,0,0,0,0,0,0" 23309 1523 dbsnp12296 NP_115722.1 "G68S,M1T,R161W,S69F" "0,0,0,0" 84306 9482 dbsnp12297 NP_689502.2 "E478G,K22T,R291K,R463C,T179A" "0,0,0,0,0" 93134 6908 dbsnp12298 NP_055186.2 "P284S,S213Y,T56A" "0,0,0" 26993 4628 dbsnp12299 NP_003756.1 "R183H,T223M" "0,0" 8677 11811 dbsnp12300 NP_001004466.1 "A19V,A224D,A225S,C141Y,C204G,E11D,G108S,G140S,G190A,K186Q,L138P,L216P,L40Q,L86P,M26T,P269L,R139W,R144L,R90C,R90H,S268Y,V203L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284433 10444 dbsnp12301 NP_777555.1 "A120T,G99R,R103Q,R76H" "0,0,0,0" 126006 14157 dbsnp12302 NP_001020762.1 "A95G,D22N,I92V,M1V,R49L,V18I,V72M,V80F" "0,0,0,0,0,0,0,0" 284402 14716 dbsnp12303;dbsnp12304 NP_001129628.1;NP_055725.2 "D622N,G654C,I214F,K844R,L950V,M420T,P838L,S106L,S621N,T100A,T474N,V174L,V174M,V853I,Y708C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22847 2323 dbsnp12305 NP_055532.1 "A1048V,A739V,D943E,G1206R,G445S,G911S,H1234D,P412H,P944H,T874A" "0,0,0,0,0,0,0,0,0,0" 9745 1167 dbsnp12306 NP_116267.3 P176A 0 84964 11569 dbsnp12307;dbsnp12308 NP_001027545.1;NP_001027544.1 "C477R,E367K,G471E,N769D,S572L,T358M" "0,0,0,0,0,0" 7769 2540 dbsnp1231 NP_671512.1 "P48S,R408Q" "0,0" 259230 8319 dbsnp12311 NP_665902.1 R102W 0 43849 11829 dbsnp12312;dbsnp12313;dbsnp12314;dbsnp12315 NP_001159508.1;NP_001159510.1;NP_001159509.1;NP_001012774.1 "E245G,K90R,L235V,M48T,P26A,S234G,V116L" "0,0,0,0,0,0,0" 339324 3684 dbsnp12316 NP_001099048.1 "G186S,H89Y,Q71H" "0,0,0" 256126 12578 dbsnp12317 NP_001190179.1 "A123V,E333Q,H525Y,S265R" "0,0,0,0" 7568 4664 dbsnp12319 NP_940982.1 "A645V,G379R,M153L,R505Q" "0,0,0,0" 376497 4629 dbsnp1232 NP_078817.2 "P345L,R424K" "0,0" 79591 4178 dbsnp12320 NP_796375.3 "A248V,G91C,P347S,S337T,S429T,T356M" "0,0,0,0,0,0" 90007 7246 dbsnp12321 NP_001240318.1 "L196I,M318I,R84Q,V347L,V347M" "0,0,0,0,0" 51477 5723 dbsnp12324;dbsnp12325;dbsnp12326;dbsnp12327;dbsnp12328;dbsnp12329;dbsnp12330 NP_001073375.1;NP_001073376.1;NP_001240729.1;NP_001240728.1;NP_061025.5;NP_001240727.1;NP_001240730.1 "C85R,D73N,K109I,V399M,W83R" "0,0,0,0,0" 55422 4254 dbsnp1233 NP_653261.1 R324H 0 142891 8282 dbsnp12331 NP_079465.3 "D125Y,E489Q,G122R,G19R,H531R,I197R,K458R,N156K,P106T,R300W,T361A,V152M,Y135C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 80264 1203 dbsnp12333 NP_036567.2 "A313S,A476D,G523S,P309L,P322L,T366M,T391A,V163L,V513I,V577M" "0,0,0,0,0,0,0,0,0,0" 25759 5389 dbsnp12337;dbsnp12338;dbsnp12339 NP_001186682.1;NP_001186681.1;NP_689572.1 "A407V,A570T,A639T,D428N,L693M,M798V,N698D,Q97H,S24G,Y241H" "0,0,0,0,0,0,0,0,0,0" 126129 3189 dbsnp1234 NP_001121781.1 R54Q 0 81619 10102 dbsnp12341 NP_150281.1 "E86Q,L124F" "0,0" 94274 13982 dbsnp12342 NP_003676.2 A92S 0 8570 3962 dbsnp12343 NP_612631.1 "D18N,G141D,H55R,R44C,R71L,R87W,R97H" "0,0,0,0,0,0,0" - 13532 dbsnp12344;dbsnp12345 NP_068702.1;NP_005022.2 "E25K,K19R,R90C" "0,0,0" 5348 14742 dbsnp12346 NP_001188267.1 "G898E,L120V,R626C" "0,0,0" 6294 2322 dbsnp12349 NP_001139811.1 "A219T,D199H,K277N,K93E" "0,0,0,0" 342865 11198 dbsnp12350 NP_065968.1 "A516S,E260Q,F101I,K175R,K371M,W123R" "0,0,0,0,0,0" 57677 2996 dbsnp12352 NP_001035987.1 "S125P,S125T" "0,0" 399473 8393 dbsnp12354 NP_001026904.1 "D100G,G28A,R26G" "0,0,0" 112812 13315 dbsnp12355 NP_001073873.2 "A403G,H473D,I356M,R299Q,V434F" "0,0,0,0,0" 729747 4664 dbsnp12356 NP_999875.1 "A153V,C202Y,R10H,R263Q,R82C,T155A,V165M" "0,0,0,0,0,0,0" 400668 11221 dbsnp12358 NP_597999.1 "M221I,M74V,N18T,V182I" "0,0,0,0" 125981 11612 dbsnp12360 NP_001129954.1 "L121V,P41A" "0,0" 255809 12331 dbsnp12364 NP_940881.2 "G205D,I265M,P148S,P304L,S140P,S310P" "0,0,0,0,0,0" 284355 8367 dbsnp12365 NP_001129671.1 "R441W,S664G" "0,0" 57655 3844 dbsnp12367 XP_003403525.1 "C138Y,P159S,Q20R,R75H" "0,0,0,0" - 13316 dbsnp12369 NP_872380.1 "E212D,P286S,S43P" "0,0,0" 284358 8284 dbsnp12372 NP_001136049.1 "A641P,C616S,D122N,E394K,G113D,G290S,G470D,H598R,I105L,K393R,N302S,R239C,R429H,R540H,S258F,S518Y,T637R,V89A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284323 4111 dbsnp12375 NP_872296.1 "E150K,K518N,K57R,P249S,Q4H,S533P,S754N,T477I" "0,0,0,0,0,0,0,0" 7770 3221 dbsnp12378 NP_055713.1 "A334T,A474G,C22F,C22Y,D33G,E115K,G360V,Q177E,R140G,R338W,R3H,R514Q,S111R,S202G,S210F,T138A,T174P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22835 4111 dbsnp12388 NP_061981.2 "R385Q,R385W" "0,0" 56006 6315 dbsnp1239 NP_001034933.1 I37R 0 414149 13961 dbsnp12390 NP_001009998.1 "A204T,M117V,T179M" "0,0,0" 170463 8836 dbsnp12392;dbsnp12393 NP_001005738.1;NP_001453.1 "F74L,L152F,P213L,R137H,R310Q,R57C,V127L,V247A" "0,0,0,0,0,0,0,0" 2358 9595 dbsnp12398 NP_003589.1 "A263V,G222A,R396Q,S431C,V177A" "0,0,0,0,0" 8463 7580 dbsnp1240 NP_001137472.1 "C129Y,E136K,G635R,L313P,R249C,R593W" "0,0,0,0,0,0" 729092 4207 dbsnp12404 NP_940943.1 "C37G,G24R" "0,0" 374918 14537 dbsnp12405 NP_061994.1 "A642T,D524E,G450S,G687R,I18V,L366F" "0,0,0,0,0,0" 284352 4164 dbsnp12407 NP_653295.1 "A427T,H190R,I519S,N202K,Q173K,T93P" "0,0,0,0,0,0" 148268 2780 dbsnp12408 NP_066385.2 "G128V,K285Q,R477Q" "0,0,0" 56242 1203 dbsnp12409 NP_001010879.2 "G291R,L159P,R426Q,R426W,V260I" "0,0,0,0,0" 284307 5214 dbsnp12411 NP_004359.1 "D202N,D238N,G139R,G250V,K234R,M249I,M249T,N109K,P271H,P271R,R266Q,R35H,T237I,T278P,T287A,V296A,V72I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1265 10179 dbsnp12412 NP_055501.2 "A1028S,A40T,E204D,H758P,I275L,I741T,P1040T,P747L,Q1039P,Q508L,R623H,R701Q,T154M,T709I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9710 1820 dbsnp12415 NP_998769.2 "A411V,C469R,G275R,L231M,L319Q,P301T,R220L,R404Q,R404W,R432H,W244R" "0,0,0,0,0,0,0,0,0,0,0" 339366 7191 dbsnp12416 NP_001245303.1 "E809K,I407V,Q352H,R460Q,R507Q,S503L,S545N,T861A" "0,0,0,0,0,0,0,0" 58513 2564 dbsnp1242 NP_001182233.1 "T34M,Y20H" "0,0" 92482 14609 dbsnp12420 NP_001230141.1 "E33D,E77K,R195H,R209H,T68S" "0,0,0,0,0" 643669 11570 dbsnp12421 NP_277055.1 "A104T,E92K,G94S,K102E,K93E,K93N,K93R,K96E,K98E" "0,0,0,0,0,0,0,0,0" 64073 14579 dbsnp12422 NP_001007562.1 "A290T,A587V,D323N,F432L,N364S,Q169K,Q169R,Q171R" "0,0,0,0,0,0,0,0" 126298 4871 dbsnp12425 NP_036246.1 "A177T,I128N,K223I,P139S,R137M,R5P,R5Q,R5W,Y240F" "0,0,0,0,0,0,0,0,0" 23581 12086 dbsnp12426;dbsnp12430 NP_001092295.1;NP_001092292.1 "I38T,S56F" "0,0" 641649 13513 dbsnp12432 NP_001191746.1 "C328Y,C549S,G543A,H564R,K88R,L315R,R160H,R172H,R558Q,S155P,S309R,S494N,S529A,T318S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84914 2862 dbsnp12434 NP_631898.3 "P370A,R152W,V568I" "0,0,0" 91039 2624 dbsnp12435 NP_065111.1 "A187V,D205E" "0,0" 57106 12840 dbsnp12441 NP_037366.1 "D182N,S180G,S191T,V138I" "0,0,0,0" 27335 12579 dbsnp12442 NP_001073880.1 "D671H,I55M,K143T,T445M" "0,0,0,0" 163059 3684 dbsnp12444 NP_543140.1 "A11E,G112V,R115W,R33G,W52L,Y30H" "0,0,0,0,0,0" 117579 14056 dbsnp12445 NP_001229609.1 "A1249T,A904G,C1078Y,C1248S,C210Y,C745F,C908S,D324E,E1135D,G1166D,G326V,H1182R,I1146M,I1236V,K176Q,K327R,K619R,K647Q,L65Q,P375R,Q527H,R1212G,R350C,R350H,S697L,S866T,T250M,T328A,V1221I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100287226 1203 dbsnp12446 NP_932175.1 "C92G,D356E,G84E,H195R,M287T,N364Y,R202H,V80I,Y296H" "0,0,0,0,0,0,0,0,0" - 3551 dbsnp12448 NP_004822.2 "A379G,A379V,D550N,E364K,I434L,I593V,R369W,S248L" "0,0,0,0,0,0,0,0" 9441 5140 dbsnp12449 XP_003403527.1 "E184K,L1087I,R1112G,R207Q,R478C,S947L,V384M" "0,0,0,0,0,0,0" - 1418 dbsnp1245 NP_056077.2 "K557Q,M249T,Q244R,V418M" "0,0,0,0" 253725 1081 dbsnp12450 NP_001129979.1 Q201R 0 284428 12797 dbsnp12452 NP_001285.1 "G32R,M193V,P625L,R186C,T629M,Y478C" "0,0,0,0,0,0" 1209 4392 dbsnp12456 NP_006626.3 "K117N,T559A" "0,0" 10794 5658 dbsnp12457 NP_597717.1 "F152L,I41M,P170H,P285S,R594S,S159Y,S467F,T599S" "0,0,0,0,0,0,0,0" 147686 2862 dbsnp12458 NP_001092092.1 "A19T,L46P,M49V,P50S" "0,0,0,0" 342977 13144 dbsnp12462 NP_001243582.1 W8L 0 7594 1203 dbsnp12474 NP_001005367.1 "E264D,E444Q,I136T,P440L,R382Q,R456W,S298R,V90I" "0,0,0,0,0,0,0,0" 57348 7407 dbsnp12475 NP_055040.2 "H87Y,R157P,V162M" "0,0,0" 5518 4401 dbsnp12477 NP_775903.3 "A146T,H80Y,I137T,R346G,T427A" "0,0,0,0,0" 284309 2862 dbsnp12478 NP_001123986.1 "A81V,Q67H,R83W" "0,0,0" 100170765 14248 dbsnp1248 NP_113672.1 "L37V,R21P" "0,0" 83742 13491 dbsnp12483 NP_848544.1 "P59S,R8K,V12G,V23L" "0,0,0,0" 113091 14648 dbsnp12487 NP_060349.1 "C133R,D121N,H228Q,K102N,M21T,T10I" "0,0,0,0,0,0" 55659 5214 dbsnp12488;dbsnp12489 NP_001026866.1;NP_036400.2 "C300Y,D477G,G452E,G63S,R188H,V232M,Y472C,Y472S" "0,0,0,0,0,0,0,0" 23646 6850 dbsnp1249 NP_848600.2 H149Q 0 219623 9238 dbsnp12491 NP_001119604.1 "D194N,R39S" "0,0" 7138 10907 dbsnp12494 NP_001000.2 V93I 0 6193 12887 dbsnp12496;hgmd0613_1442 NP_006003.1 V264A 0 8192 11332 dbsnp12497;dbsnp12498 NP_006654.2;NP_001135974.1 "A156E,E260K,K301R,P124L,P287L,R621H" "0,0,0,0,0,0" 10848 3044 dbsnp12499;dbsnp12500;dbsnp12501 NP_001122389.1;NP_001122388.1;NP_006105.1 "D209E,E92D,G171S,R239W" "0,0,0,0" 10452 9400 dbsnp1250 XP_003403576.1 Q3H 0 - 14088 dbsnp12504 NP_001774.1 "I103M,N63S,R124C,R124H,T140N" "0,0,0,0,0" 973 12424 dbsnp12505 NP_006136.1 "H244L,H244R,S330T,V337F" "0,0,0,0" 3337 7375 dbsnp12506 NP_112480.2 "D199E,G443S,G450S,G592R,M307I" "0,0,0,0,0" 4670 3785 dbsnp12509 NP_660331.1 "A471V,D131E,D39E,E14Q,H436Q,P285L,P46S,Q28R,S58L" "0,0,0,0,0,0,0,0,0" 162979 7116 dbsnp1251 NP_060702.1 "G356D,G356R,G356V,K502R,R156Q,R297W,S433Y,V1197M" "0,0,0,0,0,0,0,0" 55747 1081 dbsnp12510 NP_004810.2 "E230Q,F1050L,H182Q,P1184S,P1260Q,R615H,S598L" "0,0,0,0,0,0,0" 8189 1219 dbsnp12513 NP_940937.1 R188G 0 374879 4677 dbsnp12514 NP_001153416.1 "S269C,V288I" "0,0" 115704 3142 dbsnp12516 NP_116274.3 "A421T,E374D,L416F,P176S,P176T,P191S,S184F,V266I,Y280C" "0,0,0,0,0,0,0,0,0" 84971 7135 dbsnp12517;dbsnp12518;dbsnp12519 NP_001156895.1;NP_057286.1;NP_996998.1 P82T 0 51157 13514 dbsnp1252 NP_001005751.1 "K555N,M427L,R1313Q,R320Q,S521Y,T1307I,T379M" "0,0,0,0,0,0,0" 387680 1081 dbsnp12521 NP_075378.1 "A27E,R140C,V133I" "0,0,0" 404037 8550 dbsnp12522;dbsnp12524 NP_001129507.1;NP_060192.1 "A595G,D593G,D638E,E505D,N70S,P648A,R600Q,V115M" "0,0,0,0,0,0,0,0" 55621 4496 dbsnp12526 NP_665806.1 "D367N,G56D,I266L,I280T,P487L,R25H,R269C,R362G" "0,0,0,0,0,0,0,0" 126147 6862 dbsnp12527 NP_036447.1 "P35A,R22C,R65S" "0,0,0" 284366 11236 dbsnp12528 NP_775902.2 "E111K,L81P,R229C,S243N" "0,0,0,0" 284306 3378 dbsnp1253 NP_001092314.1 E110D 0 653567 9635 dbsnp12530 NP_068734.1 "A105P,P147L,V116A" "0,0,0" 7620 3684 dbsnp12531 XP_003403526.1 "D43N,E179V,E285G,K40R,S276A,S283Y,T147A,T277S" "0,0,0,0,0,0,0,0" - 9015 dbsnp12532;hgmd0613_1160 NP_004149.1 "A26T,G23V,R102H" "0,0,0" 5623 13804 dbsnp12533 NP_001180557.1 "Q8R,R27L,T110M" "0,0,0" 147670 14429 dbsnp12535 NP_001765.1 "A62T,H206L" "0,0" 951 11265 dbsnp12536;dbsnp12539 NP_001154830.1;NP_055937.1 "E165G,E374K,E423G,G103S,L57V,N239K,P674A,R186Q,R250K,R284Q,R284W,R413Q,R641H,R775W,S833F,V130I,V664M,V768A,V801I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23149 2658 dbsnp1254 NP_001074467.1 "I15N,R160K,T109R" "0,0,0" 441581 11228 dbsnp12540 NP_631911.1 "G157R,K150E,R40Q,R77W,V155M" "0,0,0,0,0" 147744 13423 dbsnp12543 NP_001092096.1 "G178A,K407E,K560N,N529D,R301K,S88F,V12G,V86I,Y350C,Y87C,Y87S,Y89H" "0,0,0,0,0,0,0,0,0,0,0,0" 148198 1203 dbsnp12544 NP_001129668.1 T772M 0 30000 2623 dbsnp12545 NP_694953.2 "A1072T,A337P,E486K,G70D,M998T,P470S,R350C,R369H,R374Q,R388Q,S1068G" "0,0,0,0,0,0,0,0,0,0,0" 148113 1538 dbsnp12546 NP_001230967.1 "A347G,C290R,C486Y,C514S,E401K,E57Q,H443P,H559R,M306I,M65V,P536L,R576G,S145P,T495I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 730087 1203 dbsnp12548 NP_694951.1 "P124S,S24P" "0,0" 147807 11613 dbsnp12549 NP_001137304.1 "C158Y,K92E,V21I" "0,0,0" 342900 13580 dbsnp1255 NP_001177739.1 P220L 0 642517 4207 dbsnp12550 NP_001073992.1 "E175K,Y227C" "0,0" 645432 9867 dbsnp12551 NP_001192210.1 "G86R,M1V,R58Q" "0,0,0" 100506012 6686 dbsnp12552 NP_689816.2 "E275D,E366Q,I523T,I613T,Q521R,V587I" "0,0,0,0,0,0" 163081 4963 dbsnp12555 NP_001164626.1 R67C 0 100131801 14864 dbsnp12556 NP_001290.2 "G218D,H5Q,P154L,V140M" "0,0,0,0" 1264 10179 dbsnp1256 NP_796374.1 M22L 0 84504 9265 dbsnp12560 NP_003251.2 "A296T,R660C" "0,0" 7089 3429 dbsnp12564 NP_001231776.1 "A43V,L25V,N67K" "0,0,0" 388533 14669 dbsnp12565 NP_997275.1 A57V 0 388533 14669 dbsnp12566 NP_443082.2 "E141D,K127R,K199E,P77S,P79A,P94R" "0,0,0,0,0,0" 90480 12499 dbsnp12568;dbsnp12569;dbsnp12570;dbsnp12571;dbsnp12572 NP_001018654.1;NP_612382.1;NP_001018656.1;NP_001018655.1;NP_001018657.1 "R30G,T15M,T15S" "0,0,0" 91663 10354 dbsnp1257 XP_001714838.2 H132R 0 - 4207 dbsnp12573 NP_872378.3 "F329L,F329S,G259S,P103S,P321L,R196H,R206H,R358G,R40C" "0,0,0,0,0,0,0,0,0" 284312 8429 dbsnp12575 NP_001139256.1 P115L 0 729991 14420 dbsnp12576 NP_689817.1 "I162L,T354N" "0,0" 163087 5540 dbsnp12578 NP_443080.1 "A72T,A72V,E259K,R151C,R74H,T152N" "0,0,0,0,0,0" 90324 9843 dbsnp12581 NP_002508.2 "R123C,R124H,T289M,V424M" "0,0,0,0" 4861 5273 dbsnp12582 NP_065688.1 "A142V,G82V,R134H,R77H" "0,0,0,0" 27006 13548 dbsnp12583 NP_872319.1 "E196K,R96H" "0,0" 147841 13041 dbsnp12584 NP_079153.2 "P293R,R58G" "0,0" 79935 10721 dbsnp12585 NP_680474.1 "A112S,C191R,D28A,E163K,K250R,R253C,S161C" "0,0,0,0,0,0,0" 115290 11162 dbsnp12587 NP_078932.2 "A167V,A480V,L509V,M452T,P127L,Q279H,R139C,R155G,R226Q,R588C,S383G,V108M,Y253C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79709 4840 dbsnp12588 NP_001182188.1 "L62H,P240A" "0,0" 100507588 10514 dbsnp12589;hgmd0613_686 NP_001122321.1 D1396V 0 6597 663 dbsnp12596 NP_071289.1 A54V 0 53822 14824 dbsnp12597 NP_001177984.1 "A450T,C476G,C484Y,E500G,E528Q,F526L,R441K,V398L" "0,0,0,0,0,0,0,0" 100271846 6062 dbsnp12603 NP_001012746.1 "K26T,N112S,R125Q,R8C" "0,0,0,0" 503834 13158 dbsnp12605;dbsnp12606 NP_002142.1;NP_892028.1 "A20V,A306T,E252K,R144H,R8Q,V211I" "0,0,0,0,0,0" 3249 8244 dbsnp12608 NP_036555.1 "A154D,L201H" "0,0" 23521 12906 dbsnp12611 NP_009096.2 G226C 0 8175 7331 dbsnp12613 NP_057347.2 "K69T,M266T,R169H" "0,0,0" 51343 6729 dbsnp12616 NP_758455.1 "T3A,V84I" "0,0" 116541 14125 dbsnp12617 NP_005910.1 "C320Y,S194C" "0,0" 4207 9243 dbsnp12618 NP_001186873.1 "G286S,I232T,R178C,R237W" "0,0,0,0" 6455 9244 dbsnp12621;dbsnp12622 NP_001791.1;NP_524145.1 "A121S,V102M" "0,0" 1032 13613 dbsnp12623 NP_997216.2 "E305A,E414K,G185R,H145Y,H203Y,L204P,R125Q,R212K,Y413H" "0,0,0,0,0,0,0,0,0" 162967 6118 dbsnp12624 NP_775906.1 "A122E,C132G,R187W,S186N,S54N" "0,0,0,0,0" 284369 13042 dbsnp12625 NP_057238.3 A84T 0 53916 12581 dbsnp12626;hgmd0613_699 NP_001135936.1 C287Y 0 51295 7931 dbsnp12627 NP_001230133.1 "G275W,M296I" "0,0" 51295 7931 dbsnp12628 NP_077297.2 "I156S,P343A,R145Q,R181S,S372R" "0,0,0,0,0" 79171 7010 dbsnp12631 NP_659424.2 "E147G,E147V,G129V,N65K,P187S" "0,0,0,0,0" 199746 12127 dbsnp12632 NP_783313.1 I120V 0 126328 12371 dbsnp12633 NP_008987.2 "A157T,P95S" "0,0" 11129 4327 dbsnp12635 NP_077286.3 "D3G,R14C,S25L" "0,0,0" 79156 11300 dbsnp12636 NP_060624.1 "H150R,I202V,L83V" "0,0,0" 55723 12878 dbsnp12637 NP_001189402.1 R23C 0 100529240 6118 dbsnp12638 NP_612207.1 R55Q 0 126119 12916 dbsnp12640 NP_849142.1 "F253L,P100S,R281H" "0,0,0" 126433 11162 dbsnp12644 NP_115484.2 "A408V,N114S,R374W,R781L,T579A,V454I" "0,0,0,0,0,0" 10501 2674 dbsnp12646 NP_005062.1 "G355S,P220L,Q42H,R165Q,R525W,S235G" "0,0,0,0,0,0" 6511 5626 dbsnp12647 NP_114368.1 "A173T,A176V,A312T,S16F,S288L,V481I" "0,0,0,0,0,0" 5725 5728 dbsnp1265 NP_066951.1 D33E 0 5441 14892 dbsnp12650 NP_067073.1 "A262T,A73T,P293S,R268C,R268H,R77H,S20R" "0,0,0,0,0,0,0" 353514 10898 dbsnp12652 NP_001035373.1 "G148E,P170L,T135N" "0,0,0" 63946 9262 dbsnp12653 NP_002857.1 V172I 0 5864 12401 dbsnp12657 NP_001012747.1 "A183T,E178Q,Q73R,R103Q,R103W" "0,0,0,0,0" 503835 12888 dbsnp12658 NP_056490.2 N11S 0 4616 13623 dbsnp12659 NP_001243.1 S146I 0 970 13128 dbsnp12660 NP_443108.1 "A488T,S514G" "0,0" 112939 6182 dbsnp12661 NP_001411.2 D296N 0 1995 8933 dbsnp12663 NP_778233.4 "A244V,F60I,G117R,G46R" "0,0,0,0" 284361 11657 dbsnp12664 NP_996261.1 V234I 0 284361 11657 dbsnp12667 NP_001017989.2 G62S 0 80207 13361 dbsnp12674 NP_000971.1 "A134T,R138C,V13M" "0,0,0" 6142 13442 dbsnp12675 NP_066575.2 "A420V,C234R,G497W,H401Y,I74V,L184P,P190T,P533L,R108C,R28G,R28W,R332Q" "0,0,0,0,0,0,0,0,0,0,0,0" 7554 5491 dbsnp12686 NP_003818.2 "E9K,F28L,M218T,M244I,R239Q" "0,0,0,0,0" 8775 10914 dbsnp12690 NP_001025221.1 "R24Q,R24W" "0,0" - 11641 dbsnp12692 NP_115877.2 "D30Y,M1V" "0,0" 84518 14517 dbsnp12694 NP_777605.1 "A185P,D95H,F100S,F100V,H235R" "0,0,0,0,0" 284346 12016 dbsnp12696 NP_149133.1 "P145T,P157S,S140A" "0,0,0" 94027 13225 dbsnp12698 NP_001008727.1 "A55V,E372K,H138Y,T81M" "0,0,0,0" 7675 3551 dbsnp12699 NP_976308.1 "A8T,S264T,S264Y" "0,0,0" 147808 10336 dbsnp127 NP_001229268.1 "C403S,E518G,F598L,Q730K,R109C,R557C,R76Q,R94C,V151M,V569M" "0,0,0,0,0,0,0,0,0,0" 5214 2897 dbsnp12700 NP_653290.2 "A203T,M510V,R632W,T653I" "0,0,0,0" 147923 2800 dbsnp12701 NP_699189.2 "R180Q,T379A,T67M" "0,0,0" 163049 3684 dbsnp12702 NP_001001414.1 "E169K,E174K,M181T,R206C,R253C,T207M" "0,0,0,0,0,0" 342897 11381 dbsnp12703 NP_689814.1 "E523G,S458T" "0,0" 163051 4664 dbsnp12704;dbsnp12705;dbsnp12706 NP_001138888.1;NP_940938.1;NP_212133.1 "G63V,G9S" "0,0" 374882 13194 dbsnp12707 NP_008990.2 "R418W,R63Q" "0,0" 11133 7845 dbsnp12708 NP_001073870.1 "L285M,P172L" "0,0" 147699 7952 dbsnp12709;dbsnp12710 NP_001797.1;NP_001239225.1 "I19N,I4V" "0,0" 1054 13927 dbsnp12713 NP_057619.1 E32A 0 51545 11613 dbsnp12716 NP_001009.1 "P73S,T101S" "0,0" 6209 14020 dbsnp12717 NP_004747.1 "A39E,E92D" "0,0" 9253 5035 dbsnp12718 NP_060182.1 L195F 0 54858 12772 dbsnp12722 NP_001192209.1 "A168V,I112T,P136T" "0,0,0" 147710 13145 dbsnp12723 NP_003012.1 "G23R,R20Q" "0,0" 6449 10593 dbsnp12724 NP_203696.2 "A135D,G4R" "0,0" 114336 13225 dbsnp12725 NP_071448.1 T83I 0 64130 12820 dbsnp12727 NP_001128628.1 A131T 0 8193 8305 dbsnp1272;dbsnp1273 NP_001029124.1;NP_001732.1 "D129E,E67K,G2R,L66P,Q138P,S123T,S76R,T41M" "0,0,0,0,0,0,0,0" 796 14069 dbsnp12730 NP_940879.1 S21F 0 284340 14421 dbsnp12731 NP_079157.3 "G371S,G378R" "0,0" 79939 8394 dbsnp12732 NP_689574.1 P81S 0 126272 13705 dbsnp12733 NP_597723.1 "C452Y,D10E" "0,0" 284406 4730 dbsnp12735;dbsnp12736;dbsnp12737 NP_001450.2;NP_001191431.1;NP_001191432.1 "V224I,V43G" "0,0" 2323 12243 dbsnp12738 NP_659493.2 "A599T,P268T,P279S,P314H" "0,0,0,0" 147906 4809 dbsnp12741 NP_859428.1 N5S 0 - 14057 dbsnp12742 NP_076426.1 A44D 0 64981 14743 dbsnp12745 NP_114123.2 "G416R,R264L,R358C" "0,0,0" 83854 7211 dbsnp12749 NP_004934.1 "A582V,T166P" "0,0" 1762 4332 dbsnp12750 NP_149032.1 "D137A,F4Y,T35I" "0,0,0" 93659 13225 dbsnp12751 NP_001129735.1 T300M 0 126567 8143 dbsnp12752 NP_056982.1 "A102T,A136P,N269T" "0,0,0" 51341 5356 dbsnp12753 NP_795361.1 R74W 0 126382 14107 dbsnp12754 NP_001524.2 D295E 0 3191 5288 dbsnp12756 NP_060062.1 C140S 0 55588 12516 dbsnp12757 NP_002058.2 A65T 0 2767 9110 dbsnp12758 NP_004699.1 R53W 0 9141 14334 dbsnp12760 NP_940935.1 "G42D,V140M" "0,0" 374875 10538 dbsnp12762 NP_954592.1 C127F 0 10498 5045 dbsnp12764 NP_006821.1 L13V 0 10975 14924 dbsnp12766 NP_001005240.1 "N35K,P72R,T281I" "0,0,0" 81099 9711 dbsnp12767 NP_653214.2 C32F 0 125965 14777 dbsnp12770;dbsnp12771;dbsnp12772 NP_001007271.1;NP_001007270.1;NP_078983.1 P45S 0 79760 14231 dbsnp12773 NP_060384.3 P51L 0 55009 14221 dbsnp12778 NP_001073905.1 "E70K,T344M" "0,0" 126374 7953 dbsnp12779 NP_659494.2 Q131K 0 148170 13958 dbsnp12780 NP_001139112.1 P25S 0 23217 14879 dbsnp12781;dbsnp12782 NP_001028721.1;NP_054892.2 "M259T,S141N" "0,0" 29086 10178 dbsnp12783 NP_003000.1 K60T 0 6415 14788 dbsnp12784 NP_803136.2 "E319K,E400D,R316H,T250A" "0,0,0,0" 147700 4727 dbsnp12786 NP_001229741.1 K11R 0 284385 14597 dbsnp12787 NP_060851.2 "L84P,V218M" "0,0" 55337 11086 dbsnp12788 NP_055232.1 P26R 0 27113 11687 dbsnp12790 NP_002239.2 "D68N,T453M" "0,0" 3780 3653 dbsnp12791 NP_001120713.1 A18G 0 27113 11687 dbsnp12792 NP_001120712.1 A18G 0 27113 11687 dbsnp12795 NP_001070894.1 A4P 0 54807 12757 dbsnp12796 NP_001035972.1 H34Q 0 653499 14158 dbsnp12799;dbsnp12800 NP_037500.2;NP_976219.1 "P111H,S51N" "0,0" 29946 13066 dbsnp12801 NP_001167589.1 G228C 0 399664 4417 dbsnp12803 NP_060498.2 A220T 0 55095 3897 dbsnp12804 NP_001157897.1 "A130D,C207G,G124S,R136H,R208G" "0,0,0,0,0" 653657 12797 dbsnp12805 NP_149439.1 "D137A,R30H" "0,0" 94115 13225 dbsnp12807 NP_660338.1 R271Q 0 199692 4664 dbsnp12808 NP_114101.4 V146G 0 59283 8046 dbsnp12811 NP_076946.1 "A174V,E171K,N14S,R129C,R206P,W209C" "0,0,0,0,0,0" 79005 12332 dbsnp12813 NP_001191777.1 "A139V,E136K,R171P,R94C,W174C" "0,0,0,0,0" 100534012 12332 dbsnp12824 NP_001185924.1 "P4Q,S45N" "0,0" 65220 5259 dbsnp12826 NP_001185923.1 "A422V,A507T,C23R,E392Q,G249V,G413S,G591E,I433F,L94F,N407K,P291A,P291S,R382Q,R394W,T191A,V150A,V211I,V400M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65220 5259 dbsnp12831;hgmd0613_1464 NP_006163.1 "A70V,G98R,L118M,M28T,S64R,V32M" "0,0,0,0,1,0" 4878 13855 dbsnp12837 NP_001159417.2 G15E 0 1188 4189 dbsnp1284 NP_733930.1 "E6K,E6Q" "0,0" 627 10174 dbsnp12846 NP_942011.1 Q379R 0 5733 8217 dbsnp12848 NP_001171567.1 E228K 0 2152 10971 dbsnp12856 NP_002996.2 "C230F,D603N,E542K,G179R,G357S,G631V,G727E,L422Q,M365I,N604Y,N673S,P301L,P512H,R458Q,R559C,R57H,S331N,S385L,S500F,S619A,T274I,T661N,V209M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6403 3032 dbsnp12864 NP_001007793.1 I16F 0 4914 3238 dbsnp12866 NP_005522.2 "A104T,A549V,A93T,C623Y,E335K,E672K,E693K,F288V,I315T,I576M,K202E,K330N,P284S,R409S,S179T,S512F,T420A,T442I,T498I,T723S,V615G,Y413N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3428 3317 dbsnp12871 NP_057427.3 "A1208V,A1268G,A1515T,A212D,A2139T,A2356G,A2356V,C1528R,D1768N,D1978G,D2313N,D2837N,E1145D,E2011A,E2011V,E2259A,E2545K,E2553K,E506V,E865D,G1033R,G2277A,H1082Y,H1770Q,H2000R,H494Q,I415L,I800V,K1271E,K1539R,K2519E,L1310V,L1412S,L322P,L364V,L640F,M1970V,M2282V,M2442I,M701V,M793R,N1452S,N1703S,N2396D,N2451S,N2592T,N3106K,Q2038P,Q2223R,Q2225R,Q2515P,Q352R,Q754E,R1325K,R1560Q,R1793H,R1879C,R1964H,R209W,R2145C,R2309H,R256Q,R2729Q,R2943G,R300C,R3053Q,R382K,R815H,S1430C,S1507F,S1543L,S1652P,S1905N,S2044L,S2072P,T1105I,T1296A,T1682I,T1975M,T2013M,T2389S,V2184I,V2585M,Y1018D,Y1206C,Y1438C,Y357C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1063 122 dbsnp12880 NP_001185832.1 "A620T,A623T,D380N,E878Q,F173L,G107E,G151V,G504S,I686T,K539R,L129F,L607V,M1T,M1V,M711I,Q573R,R109W,R411C,R411L,S119P,S401N,S401T,S66P,V585M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55249 321 dbsnp12893 NP_835497.1 R63G 0 93974 14871 dbsnp12902 NP_116127.3 "A175E,A175T,E249Q,G137A,G170R,I232M,I98N,L24F,M1L,P55R,R366Q,S203G,T125A,V194L,V233M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84824 8945 dbsnp12909 NP_003453.2 "A87G,A87V,G197S,I94M,K208M,K233T,K253Q,Q259R,T220M" "0,0,0,0,0,0,0,0,0" 7802 11282 dbsnp12918 NP_940849.1 "F17L,G86S,R123Q,V78M" "0,0,0,0" 127845 14124 dbsnp12924 NP_001229769.1 "G89S,P213A,R231G,V123M" "0,0,0,0" 2987 12109 dbsnp12927 NP_065095.2 "A191S,R131Q" "0,0" 57095 12725 dbsnp12928 NP_001135446.1 "A1072T,P1122L,V1158M" "0,0,0" 23400 1480 dbsnp12931 NP_001972.1 "A285T,A2S,A60V,A613G,A844V,G610A,H264R,I822M,K131R,K801N,N540K,N69K,N845S,Q508P,Q556P,S368N,S438L,S467R,T687M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2060 2630 dbsnp12935 NP_001006659.1 "A1062E,C807R,G559E,I1052V,I908T,K915E,M380I,N876K,P151L,P175L,P27L,P307L,P404A,Q662R,R1063C,R324C,R671H,R885H,S541I,S639N,S663P,T677M,T916I,V871L,V946M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1380 1746 dbsnp12938 NP_777623.2 "P52A,S43T,T128A" "0,0,0" 6487 7698 dbsnp12945 NP_067013.1 "L25F,P125S,S30F" "0,0,0" 58155 5728 dbsnp12946 NP_001238911.1 "R164Q,R170L" "0,0" 11123 13317 dbsnp12954 NP_068835.1 "F105L,P110T,R16Q,S45F,S89N,T21M" "0,0,0,0,0,0" 10911 14108 dbsnp12958 NP_055987.2 "A110S,A1885T,A235T,A457G,A906T,D1327N,D440V,E1381A,E1381V,E1510Q,E2783K,E359G,E608D,G1205V,G2535S,G971V,G994S,I1148M,I1958V,I798V,K1041E,K1120R,K948R,L519F,M244I,M731V,M764V,N1530S,N1994D,N2568S,N343K,N634S,P1926A,P704Q,P935A,P935L,P959S,R1361C,R1366G,R449Q,R507G,R515H,R974Q,S1303C,S1624C,S1720N,S1810P,S989A,T2166A,T2717A,V385L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23215 161 dbsnp12961 XP_003118542.1 "H236Y,I199L,L261P,P93L,Q168P,R15H,R86C" "0,0,0,0,0,0,0" - 11632 dbsnp12970 NP_060735.3 "A463P,E359K,I114N,P453H,P460S,R233W,R515S,R552C,R655Q,S498C,Y347F" "0,0,0,0,0,0,0,0,0,0,0" 55765 4302 dbsnp12977 NP_004176.2 "A134T,A295P,E317G,Q371H,R104Q,R161H,V184M,V7M" "0,0,0,0,0,0,0,0" 7482 8784 dbsnp12978 NP_078613.1 A18T 0 7482 8784 dbsnp12979 NP_110413.2 "A397T,E352A,Q264R,R274Q,R349Q,T278A" "0,0,0,0,0,0" 81493 6969 dbsnp12990 NP_443075.2 "P6542H,R6535H,R6545H,T6508K" "0,0,0,0" 84033 4 dbsnp12991 NP_001092093.1 "A1086S,A1532V,A1740D,A2394T,A2629V,A3300T,A4471T,A4484T,A4511T,A494G,A5046V,A5858T,A6611V,A7172V,A908T,C4450R,C7931R,D2106E,D3754G,D4913Y,D4962G,D5762N,D63N,E1595D,E2746D,E2762K,E3372D,E4661A,E5779G,E6213K,E7767K,F2116L,F2272L,F4070L,F6825V,G2113C,G2789R,G2951D,G3412R,G3484A,G3484E,G3780R,G4039R,G4666S,G5508V,G6079S,G6991R,G7059S,G7118W,G7139S,G7854A,H1158L,H1710Y,H1779N,H3860N,H4381R,H5182R,K1027R,L2164V,L2686P,L5269V,M7797T,P3566L,P6271S,P6272S,P7014T,P7163L,Q502R,Q5891E,R1313Q,R1336W,R1724H,R1760C,R2529Q,R2728Q,R2797Q,R2812W,R306C,R3935W,R4344Q,R4516W,R4534H,R4662C,R5052H,R5575H,R5693M,R5745Q,R5788C,R6036H,R6115G,R6600Q,R665W,R6768Q,R6780W,R6805W,R6984Q,R7724H,R871C,S2247F,S3373C,S3474N,S4642C,S934L,T1001M,T1195I,T1846M,T2969N,T4223M,T4828I,T6971N,V1448A,V2449A,V2720M,V2736M,V3097I,V4154F,V4300M,V4927M,V5189M,V5530A,V7280M,V7550I,V7580M,V7807I,W2109R,W7271R,Y7735F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84033 4 dbsnp12992 NP_733793.2 "A910V,D570A,E1204K,N667S,P560S,Q1084H,S62I,S62T,T150A,T85I,V405M" "0,0,0,0,0,0,0,0,0,0,0" 9462 1204 dbsnp13012 NP_001004339.2 "E76D,I493T,L183F,L665W,M243V,M343V,N151S,N606S,P35A,Q412H,R124H,R124L,R184H,R637L,R642H,S577N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440590 3529 dbsnp13013 NP_001034553.2 "A1196T,E683K,K663R,M1220V,N245K,N396K,P123L,P196T,R859K,V1099D,V368A" "0,0,0,0,0,0,0,0,0,0,0" 374977 1121 dbsnp13019 NP_001026864.1 "A133V,D215N,I113V,I478V,P17L,P306R,P313S,Q395K,V239A" "0,0,0,0,0,0,0,0,0" 22955 4485 dbsnp13024 NP_001243750.1 E11Q 0 6016 12213 dbsnp13025 NP_001116433.1 "K76E,N84T,S133F" "0,0,0" 127003 13787 dbsnp13036 NP_001185941.1 "A299V,A300T,D276E,H283R,I105V,L101M,M93K,M93R,M93T,P304S,S54I,T224A,T298R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 90529 10047 dbsnp13038 NP_056052.2 "A178T,D1136N,D626G,D706G,F1028V,G248R,H367R,I300V,K771E,N358S,N660Y,N890S,P217L,Q547R,R1131C,S1137N,S2N,S387I,S666F,T899M,T993N,V1103I,V467L,V508F,Y1226N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23285 968 dbsnp13039 NP_055562.2 "G12R,G234S,I162V,P185A,S63N,V241I" "0,0,0,0,0,0" 9783 1069 dbsnp1304 NP_001124174.2 "K268R,P233S,Q246L,Q246R,R256C" "0,0,0,0,0" 26580 7371 dbsnp13047 NP_036222.3 "A2728V,A2762T,A2762V,A2981S,A3034T,A4350T,A4963T,A5128V,C815F,D2838N,E1426V,E1644G,E2294V,E3152D,F5377L,G2343R,G2350E,G3580D,G644V,H1120L,H2189N,H3429Y,H4466Q,I4897V,K1141R,K1248I,K4243R,L1354M,L1632F,L3014V,M2290V,M3770V,N1776S,N2320S,P1852L,P3836S,P466L,P4952L,Q1945L,Q2298H,Q2980H,R1015C,R1244L,R1857W,R2175W,R2266G,R2389C,R2523Q,R2835K,R2835T,R3257Q,R3743H,R3842W,R3995H,R4768G,R605Q,R823C,S1853P,S1896P,S4670T,S5011N,S956G,T1487A,T1650I,T2018A,T3394I,T5296P,V1692I,V2996E,V3033F,V3033I,V4760I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23499 19 dbsnp13048 NP_055853.1 "A1159P,A158T,D107V,E1194K,G429S,H1389L,I960V,L1359P,L212F,M330I,P1148A,P260L,P877H,P877R,S243T,T1105A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 643314 945 dbsnp13052 NP_001032622.1 "A2122G,I1645F,K1126T,L150F,L707V,M1418V,N2178S,P745T,Q734E,Q901R,R1342H,R410K,S1104F,S1197P,T416A,T721I,V1227L,V1227M,V141I,V1963L,V26I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 321 dbsnp13053 NP_001230657.1 M1K 0 64756 9639 dbsnp13054 NP_001006944.1 "A491T,L492F,P446L,S457P" "0,0,0,0" 2046 1872 dbsnp13055 NP_619524.3 "R330H,S333C" "0,0" 6006 8229 dbsnp13058 NP_001123885.2 "A410V,A636T,A680V,A732V,A739G,D430N,E678Q,G421S,G469S,G57R,G726S,G761S,G770R,H345Y,K625R,L797P,M777I,N230I,P165S,P348R,P652L,P652S,P757L,Q126E,R238H,R273C,R289H,R344P,R366W,R440W,R461C,R490K,R496H,R589W,R608Q,R730H,S570F,T387M,T387S,T485M,T499M,V682M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6339 3201 dbsnp1306 NP_071744.2 V218M 0 64231 11846 dbsnp1307 NP_690590.1 N150I 0 64231 11846 dbsnp13073 NP_001533.2 L421I 0 3321 1385 dbsnp13076 NP_065826.2 "A853T,D838V,E365K,E851D,G516D,H309Q,H55Y,N391S,P827S,R123Q,R162Q,R237Q,R410H,R722W,S52T,T282M,T340M,V517M,V769L,V881M,Y573C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57535 1985 dbsnp13077 NP_149044.2 "E333K,I405V,S266G" "0,0,0" 64645 6545 dbsnp13078;dbsnp13079 NP_001161437.1;NP_689711.2 T667A 0 149465 1199 dbsnp13080 NP_001182760.2 "A183S,C345S,D884A,E1179K,E695K,E767G,E808G,G660S,H1261D,I1097T,I322M,I863T,K427N,K729R,K834Q,N241D,Q1240R,Q125H,Q125R,R1136Q,R1188Q,R1241H,R516C,R619C,R677Q,R775W,R891Q,S614L,T1233I,T126M,V1153A,V11I,V43E,Y1192C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 149465 1199 dbsnp13083 NP_060374.2 "A358E,M346V" "0,0" 55001 5561 dbsnp13085 NP_115668.4 "K1126T,L150F,L707V,M1418V,P745T,Q734E,Q901R,R1342H,R410K,S1104F,S1197P,T416A,T721I,V1227L,V1227M,V141I,V26I,Y1508H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54856 321 dbsnp13087 NP_203131.1 "N3S,R89H,T113I" "0,0,0" 85397 12913 dbsnp13090;hgmd0613_2497 NP_996816.2 "A1009V,A1953G,A2122S,A3013T,A4049T,A4778D,A5165G,C3358Y,D4448G,D5103N,D656N,D798V,E1994K,E2330G,E3411A,E3731Q,E3802K,E3912K,E3939K,E4736K,F4223L,F4497Y,G1132D,G1599D,G1871D,G2224C,G3291S,G4692R,G4759E,H1041Q,H4248R,I1107S,I2161V,I3103V,I3620V,I4186T,I588F,K2026R,K2079T,K2080N,K2532T,K5026E,L4840P,L555V,M2387T,N1683S,N1875S,N2014T,N2027T,N3742S,N4856S,P1076S,P1194L,P1978S,P2078R,P2431S,P3590L,P3965L,P4466S,P4984L,Q4203R,Q4662E,Q5010L,R1870W,R1998H,R2474K,R2573C,R2859C,R4570H,R4729K,R4848Q,R4935Q,R837Q,R926H,S1122A,S2867L,S3743N,S4275T,S4588Y,S4772F,S5188G,T1515A,T2086N,T2197I,T2772I,T3421P,T3976M,T4169A,T4839M,T4918M,T496P,V2228E,V2820I,V3823I,V4016M,V4454D,V4805I,W4149R,W4200G,Y4273H" "0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 7399 23 dbsnp13092 NP_001758.2 "H266Q,H339N,P348S,P46A,Q102H,S196T,T143I" "0,0,0,0,0,0,0" 914 9623 dbsnp13105 NP_839943.2 "A1124T,A1221P,A1556D,A446S,A562T,E1110K,G430R,G581R,G649S,I1563T,K1128E,K1402R,K70Q,L1430P,P55L,Q375K,R1000H,R1445H,R324Q,R383Q,R593L,S190R,S460G,T1242I,W10R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128239 683 dbsnp13110 NP_003259.2 "A548V,C779Y,D554G,D694G,D846G,I644F,L487I,N155T,N598T,R752G,S720R" "0,0,0,0,0,0,0,0,0,0,0" 7100 2843 dbsnp13111 NP_073742.2 "K267E,S162L" "0,0" 64853 10740 dbsnp13112 NP_001156730.1 "D267N,H399Y,K44E,P126L,R89S,Y285N" "0,0,0,0,0,0" 55793 4900 dbsnp13116 NP_001017404.1 S9L 0 59352 2251 dbsnp13120 NP_001158013.1 R683S 0 27185 2690 dbsnp13125 NP_001158010.1 "A116V,A83V,E751A,E751Q,G531R,K800R,L330F,L607F,P106T,P287L,P432L,P506S,P540Q,P540R,R25Q,R264Q,R345Q,R417C,R418H,R575K,R66W,R699G,S216L,S704C,S79L,T328N,T453M,T795A,V71L,W160L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27185 2690 dbsnp1313 NP_001190191.1 L46V 0 100532726 14184 dbsnp13133 NP_852127.2 "G39S,R130Q,R60C,R61H,R78H" "0,0,0,0,0" 128308 13649 dbsnp13137 NP_001158058.1 "A1086V,A1132S,A1173P,A1173S,A1352V,A1528S,A2040S,A2040V,A2626D,A2930T,A3156T,A340G,A3659T,A664P,C183Y,C2934S,D1994G,D2399G,D2658G,D3074A,D402E,D583H,E1142K,E1215K,E2024G,E3153K,E3186K,E3517K,E355D,F1127S,F2960C,G1152E,G1217E,G1247A,G1611R,G1655S,G1691S,G1733W,G1983A,G2022R,G2022S,G2094D,G2449E,G2570E,G2570W,G2679S,G2830R,G2847E,G2976A,G3228S,G3457S,G696D,G857R,G897V,G949R,H3552Y,I3561V,K1475R,K401E,L1292M,L2581F,L412Q,M1434K,M983V,N2401S,P2812A,P3022L,P308T,P3445S,P856S,Q1260L,Q418R,R102H,R1469G,R1483S,R1496S,R2027G,R2027W,R2125K,R2305K,R2461Q,R2551W,R2863Q,R2891Q,R3121C,R3126G,R3225Q,R3375Q,R3615W,R61C,R6W,S1021T,S1422L,S1878G,S2058G,S2479L,S2651F,S3000F,S3069R,S3314L,S389F,S967C,S974I,T1186S,T2086A,T3513M,T3700N,T877M,V1082L,V2060G,V2950I,V2997I,V3265L,V3265M,V3427I,W3039R,Y109F,Y1124D,Y1206H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91156 87 dbsnp13139 NP_001106882.1 A420V 0 55277 5492 dbsnp13143 NP_001166289.1 C52Y 0 5236 5413 dbsnp13146 NP_001005327.2 "D263N,G152D,G4R,M1T,M245I,M257R,P228S,P248L,Q143H,R260H,R292K,T15N,V200M,V309A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391114 9836 dbsnp13158 NP_001139129.1 R490C 0 5909 4262 dbsnp1317 NP_001116427.1 "D20E,G45S,I22M" "0,0,0" 26580 7371 dbsnp13170 NP_056099.3 "A1725V,A2893T,E860K,F1400Y,F2504L,G421R,H123R,K925M,K963R,L766Q,P2058A,P2844L,P446S,P808L,R1066H,R1347C,R1347H,R1391C,R1519H,R1676H,R1694C,R2269Q,R2362Q,R2623H,R2822H,R438H,S1576L,S1788R,T1085I,T1635I,T2669S,T672S,V1454I,V2464A,V2468I,W1294R,Y2070F,Y3094C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23334 110 dbsnp13183 NP_001364.1 "A3016T,A3135V,A3726G,A4260T,A4346V,A4462T,A931D,C3619R,D3393E,D3869N,D4094H,D646G,E1272A,E3232Q,F3378L,F3644L,F405L,F4244C,F848L,G1657E,G2295R,G2341E,G2357V,G3314R,G3678S,G439A,G4413V,H1038L,H861R,I1755M,I1854V,I3004T,I360S,I4422M,I651V,K1010R,K1924R,K3474E,K4304R,K4375N,L3170S,L3446F,L352P,L384R,L4096P,L828V,M1110I,M2479T,M4177V,M705V,M851I,N1099Y,N1626S,N2023D,N2435S,N2561S,N2991D,N3812D,N3969K,N4417K,N4454S,P147L,P3431H,Q2543E,Q3556R,Q4140H,R1011Q,R1639C,R1669C,R1709C,R1709H,R2239Q,R277M,R2804C,R2911H,R2955Q,R3173Q,R3670K,R3861C,S2622F,S3942T,T1850M,T2719P,T2882I,T3831S,T4113N,T43S,V1361M,V1860F,V2174M,V3627A,Y1392D,Y1819H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127602 53 dbsnp13186 NP_060626.2 "A225T,A2606T,C3439Y,D1757V,E1505V,E1611K,E372K,E450K,E92D,G2104R,G3882S,H2101Q,H2415Y,I205V,I61T,K177N,K3449M,K513R,K727R,L1058V,M2652T,M3521V,N2803S,N326S,N3833S,N4022S,P4314A,P617L,Q153H,Q410L,R1350Q,R2432C,R2621C,R2858C,R3242W,R3560W,R3649C,R3997Q,R710W,R946C,S1341L,S1707F,S1778R,S2117N,T1767I,T2107M,T4191I,T448A,T846I,V238I,V2912I,V300G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55187 59 dbsnp13189 NP_055641.3 "A1356S,D660N,D890G,I744L,M1568V,N1400S,N380Y,R1527C,S1625I,T139A" "0,0,0,0,0,0,0,0,0,0" 8476 604 dbsnp13196 NP_001002292.3 "A142V,A529P,A529T,H98D,L34F,M487I,R327Q,T454M,V463I" "0,0,0,0,0,0,0,0,0" 79971 5954 dbsnp13201 NP_000057.1 "D148E,D382Y,G117R,H277D,N44K,Q319H,R242C,R323W,R338C,S50R,S55N,T542I,V536D" "0,0,0,0,0,0,0,0,0,0,0,0,0" 732 5255 dbsnp13207 NP_001139664.1 A8V 0 84217 9299 dbsnp13210;dbsnp13212 NP_006490.3;NP_963839.1 "D190G,D205Y,F19Y,M56V,P239S,R226S,R36C,V20L" "0,0,0,0,0,0,0,0" 3964 9465 dbsnp13221 NP_006305.2 "E200K,F316L,G62S,H687N,H687Y,I474T,P207A,P284R,P350Q,P505L,P505Q,Q579K,R374Q,R507Q,R553H,R602W,R615H,R648H,R655W,T76I,V111D,V111G,V250M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10256 3877 dbsnp13222 NP_001129082.1 "A159V,Q198R,W224G" "0,0,0" 7799 621 dbsnp13225 NP_005969.1 "C2S,S61N" "0,0" 6273 14702 dbsnp13230 NP_201569.1 A588V 0 8556 4872 dbsnp1324 NP_001171669.1 "P382R,Q179H,Q363R,R119H,R591S,S155C,S447N,V303G,V383I,V514M,V587M" "0,0,0,0,0,0,0,0,0,0,0" 2017 4754 dbsnp13245 NP_001186582.1 "G129S,P137L" "0,0" 11243 12538 dbsnp13246 NP_001186591.1 "A103V,M137I,Q75R,R149Q,R149W,R150C,V194A" "0,0,0,0,0,0,0" 100527963 12538 dbsnp13248 NP_001186590.1 "C174R,G129S,P137L,R173Q,S207C" "0,0,0,0,0" 100527963 12538 dbsnp1325 NP_001988.1 "T53I,V93M" "0,0" 2197 14202 dbsnp13259 NP_001185763.2 W2351L 0 9659 280 dbsnp13264 NP_795352.2 "A1616G,A1686S,D1801V,D802H,D985Y,E1499K,E488G,G1149E,G1178A,G1543V,G468E,H1170P,I1485M,I586V,I756T,K80R,L342S,L689V,M864I,N1174S,N1256D,P1197S,P336H,P402S,P477S,R1023G,R153G,R451G,S1555N,S1782L,S30W,T1309I,T142A,T669I,V12M,V1516L,V1549I,V324I,Y940C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10207 559 dbsnp13265 NP_940819.1 T655A 0 63827 2553 dbsnp13267 NP_597724.1 "L173F,L32Q,Q58R,R57P" "0,0,0,0" 163732 13299 dbsnp13276 NP_001243875.1 "F154L,K180N,L31P,P126S" "0,0,0,0" 199990 13085 dbsnp13279 NP_277071.2 W109R 0 728642 3248 dbsnp1328 NP_001078841.1 G89S 0 790955 14737 dbsnp13280 NP_076916.2 "C109R,C57R,D390N,E638D,G367R,G51E,G51R,H112R,P575T,Q586L,R127K,R93W,V655A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 728642 3248 dbsnp13284 NP_001002811.1 "A106V,A127T,D258V,G239S,I108L,I4F,K257E,L298P,L83Q,N28S,P164R,P302A,Q250R,Q80R,R43P,S153N,S318N,T208A,T23K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9659 280 dbsnp13286 NP_001185761.1 "D13G,F51L,K76N,L71I,T21M,T68N,T6A,Y55C" "0,0,0,0,0,0,0,0" 9659 280 dbsnp13291 NP_001185732.1 R16Q 0 8672 712 dbsnp13298 NP_001276.2 "A677T,I35V,K787R,L144F,L15P,M451R,N682K,P690T,P871L,Q427H,S729N,T207I,T402A,T580M,T637I,T880M,V609I,Y118C,Y169H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1179 2502 dbsnp1329;dbsnp1330;dbsnp1331;dbsnp1332 NP_001245175.1;NP_001245172.1;NP_001245171.1;NP_001245168.1 "G114S,L12S,P7L,T19A" "0,0,0,0" 219854 13923 dbsnp133 NP_898881.2 "A127V,A143T,A29G,A80G,A97V,D190G,H141R,I56T,I56V,P11L,R33K,R42Q,S16R,S19P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119180 13103 dbsnp13306 NP_000687.3 "A300V,D248N,D393G,E461K,G28S,R357Q,R495H,S221T,Y472C" "0,0,0,0,0,0,0,0,0" 223 6351 dbsnp13308 NP_057150.2 "I26S,I26T,L14V,P32R,R40W" "0,0,0,0,0" 51022 13628 dbsnp13320 NP_003106.3 "A310P,A39T,K391Q,M124L,N330S,N343D,N46D,P418H,Q241R,R142H,S479G,Y34H" "0,0,0,0,0,0,0,0,0,0,0,0" 6675 6252 dbsnp13321 NP_001007256.1 "S288N,W255C" "0,0" 126823 9685 dbsnp13327 NP_000646.2 "C41F,F206L,F43L,L308F,N382D,P226S,R370I,T49S" "0,0,0,0,0,0,0,0" 6402 8898 dbsnp13329 NP_060330.2 "L258R,M71V,P178L,P288A,R49Q" "0,0,0,0,0" 54964 9888 dbsnp13337 NP_002801.1 "E232G,E299D" "0,0" 5710 9053 dbsnp13351 NP_001185943.1 "M1K,M1R,M1T" "0,0,0" 90529 10047 dbsnp13360;dbsnp13361;dbsnp13362 NP_001717.2;NP_001229734.1;NP_997072.1 "A167T,A405T,E357K,H307Q,I186V,K238N,L904F,M384I,M474T,N410K,N770D,Q62K,R274K,R605Q,R605W,R618H,T234I,T784M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 676 2338 dbsnp1337 NP_068375.3 "H936P,K889R,P595L,R290W,R531Q,R904K,R931C,S468L" "0,0,0,0,0,0,0,0" 55823 2388 dbsnp13381 NP_001164225.1 "A353T,A443V,A554T,A592V,A697V,A737V,E231K,E350K,F362L,G689R,H751Y,I286T,I472F,L433P,P465A,P633S,P766H,R326G,R423Q,R498C,R596W,R713C,R713H,R732Q,R823C,R823H,S26A,T31M,T376I,T477I,T503A,V533D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148345 3074 dbsnp13384;dbsnp13385 NP_001186009.1;NP_001186010.1 "A10P,A20V,D122N,E87Q,L83M,M1V,M241T,P18R,R13H,R150Q,R192C,R338H,R375Q,R426L,R456H,R470Q,R524H,S246G,T188I,T473M,V108I,V501A,V501G,V80G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127435 4471 dbsnp13393 NP_005149.4 "L24M,S12T" "0,0" 27 1473 dbsnp13398 NP_694986.2 "C399S,C399Y,R396H" "0,0,0" 254173 4341 dbsnp134 NP_076950.1 "A659T,D652N,H37Q,P320L,R132C,R36S,S211L,T247I,T621S" "0,0,0,0,0,0,0,0,0" 79009 3332 dbsnp13410 NP_659484.4 "D33E,E320K,G307R,I219T,K222E,R187C,R345W,S365N,T131A,V253L" "0,0,0,0,0,0,0,0,0,0" 127700 8818 dbsnp13413 NP_001136023.1 "N736H,R544C,R653H,R83C,T522I" "0,0,0,0,0" 22911 2450 dbsnp13419 NP_001243537.1 W326C 0 112770 8462 dbsnp13422 NP_001034300.2 "E316K,E376A,F298L,G58R,K25E,M159T,N315I,N315K,Q35H,R154C,R33W,T365M,V28L,Y98F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219293 4604 dbsnp13434 NP_001191215.1 "G205S,H247Q,P26A,S286T,S37I,S56R,T364M" "0,0,0,0,0,0,0" 4582 1268 dbsnp13441 NP_071754.3 "P30S,P30T,R52L,S59T" "0,0,0,0" 9659 280 dbsnp13446 NP_542196.2 K276N 0 1301 533 dbsnp13448 NP_671517.1 N561K 0 26027 5055 dbsnp13453 XP_003118553.1 "L126P,M1I,R6P,V134G" "0,0,0,0" - 14092 dbsnp13454 NP_001234.2 "A554V,E585D,K95R,P163L,R297C,R417W,S190N,S452L,T186N,T271S,T348I,T471N,V397L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 943 5194 dbsnp13457 NP_001138682.1 "A210D,E294K,G200V,G387A,G387V,R129H,R267G" "0,0,0,0,0,0,0" 441869 8609 dbsnp13469 NP_004573.2 "G302V,P233L" "0,0" 5876 10126 dbsnp13470 NP_001634.1 "T73I,T73K,T73R,V41M,V91M" "0,0,0,0,0" 336 14649 dbsnp13495 NP_001243345.1 P351S 0 84224 98 dbsnp13497 XP_935771.2 "L149S,L51P,W153R" "0,0,0" - 11527 dbsnp13499 NP_066566.3 "G554C,P280S,S287N,T278N,V240L,V71I" "0,0,0,0,0,0" 1600 5295 dbsnp13504 NP_001156002.1 "A360V,A530D,A564G,A571S,E627A,H531Y,I109M,L554V,L670F,M419V,P173A,P197R,R161W,R249Q,R249W,R291Q,R658H,S508L,Y680C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79729 3561 dbsnp13506 NP_996897.2 K543R 0 79819 2906 dbsnp13508 NP_001034792.3 "A179D,A194T,D1291G,D134Y,D2321Y,D2565Y,E125Q,E3439K,E3455K,E3480A,G116W,G1285E,G2507E,G2995E,G3070E,G3314E,I1165F,K31N,K3453T,K381R,L2515Q,L44V,M2553L,N37S,P1102T,P1836T,P200A,P2080T,P2324T,P259S,Q1659E,Q1903E,Q2147E,Q2391E,Q2635E,Q2879E,Q3198E,Q411E,Q681E,Q925E,R296H,R3109C,S657R,S901R,T3084I,V99F,Y1053S,Y1543S,Y1787S,Y2031S,Y2275S,Y2519S,Y2763S,Y661H,Y809S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100132406 98 dbsnp1351 NP_001180400.1 S6G 0 2346 3608 dbsnp13512 NP_056511.2 "F79L,R65P,R72Q" "0,0,0" 2882 12766 dbsnp13520 NP_001182317.1 "C987S,D511V,G418D,H379Y,I689V,L241I,L318S,L361F,N427K,P223L,P962L,Q457R,R423C,R458C,R551P,R60Q,R785G,R957H,R960W,S385R,S425P,S80P,T43A,T973A,V269I,V466I,V555M,Y267H,Y540C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83416 2120 dbsnp13535 NP_001034589.2 "A1056D,A1066V,A319S,A482P,A577V,A636P,A885P,E1061K,E1204K,E616K,G180D,I545V,K634R,L649M,N224T,N469S,P1110L,P353L,P457L,P957L,R458Q,R567W,R688P,R880H,R977H,R988H,S1098N,S408R,S506C,T170A,V238E,V569G,W754C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127731 1359 dbsnp1356 NP_001004326.4 "A141V,A60D,E82K,G246A,M146I" "0,0,0,0,0" 440044 5765 dbsnp13566 NP_001032417.1 E24D 0 5142 2686 dbsnp13581 NP_004310.1 "D620Y,E1293G,G693D,G742R,H924R,H934Q,I154M,I702V,I861V,K737R,L275M,M1095L,P1284A,P719A,R1004Q,R1245H,R1270G,R1273S,R930C,S368N,S632Y,S841C,T1030M,V27M,V629M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 460 1161 dbsnp1359 XP_003403499.1 "D268G,E471K,G434V,Q155R,Q86L,R440K,S168A,T387N" "0,0,0,0,0,0,0,0" - 6968 dbsnp13614 NP_000637.2 I7S 0 178 790 dbsnp13616 NP_002861.1 "G181R,G181S,R141Q,V61I" "0,0,0,0" 5872 12818 dbsnp13632;dbsnp13633;dbsnp13634;dbsnp13635;dbsnp13636 NP_001019381.1;NP_005970.1;NP_001019382.1;NP_001019384.1;NP_001019383.1 "G54S,N74H" "0,0" 6284 14685 dbsnp13638 XP_003119208.1 "G150E,W42R" "0,0" 100506571 12822 dbsnp13666 NP_715639.1 "F213S,H23P,N60S,P8L,R37W" "0,0,0,0,0" 29949 12644 dbsnp13668 NP_065140.3 "F81L,G315R,G408R,G76D,G86S,H428R,Q457R,V143D,V73M,Y36C" "0,0,0,0,0,0,0,0,0,0" 57127 7025 dbsnp13685 NP_001137461.1 "A637V,Q494R" "0,0" 148545 4405 dbsnp13688 NP_060595.3 "A356V,A99T,C1067F,D1158E,D276V,D616E,D69N,E192K,G103A,G229E,G84S,I1219V,L16P,L65V,Q1174R,Q642P,R105Q,R1222C,R1228C,R991G,S1032F,S47N,T1123I,V520I,V852I,V984M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55160 1206 dbsnp13690 NP_002637.3 "A1004G,A577S,F1029L,G662S,G8E,I1526V,K1002R,L202R,L249V,L874V,N232S,P1012Q,P1476S,P273H,P717L,Q197H,R1499Q,R287C,R315W,R347Q,R458Q,R468C,R468H,R75W,R82H,R82L,S1041T,S1238L,S1364C,S810G,S909L,T1621S,V1026M,V1602I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5287 700 dbsnp13693 NP_001188477.1 "F368L,G379E" "0,0" 9122 6884 dbsnp13694 NP_001188476.1 A16S 0 9122 6884 dbsnp13708 NP_112196.3 "A222V,A76S,C121F,D338N,H296L,M1T,Q21L,S71C,V717A" "0,0,0,0,0,0,0,0,0" 81627 3760 dbsnp13713 NP_689592.2 "A66V,F90S,K85N,L28V,P106A,R177Q,T163A" "0,0,0,0,0,0,0" 128061 11005 dbsnp13714 NP_036315.1 V96L 0 27022 7049 dbsnp13715 NP_001106279.1 "A209V,A767T,D934Y,G234S,I393V,I787T,L272S,L360F,L422I,M818V,M918V,P364L,P8Q,Q17E,S692T,T108P,T738M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100526835 2407 dbsnp13716 NP_001186256.1 L826P 0 100526835 2407 dbsnp13717 NP_057062.1 "A108V,A666T,G133S,I292V,L171S,L259F,L321I,M717V,M817V,S591T" "0,0,0,0,0,0,0,0,0,0" 51086 2407 dbsnp13720 NP_000642.3 "A1523T,E60D,G2337S,H1658R,I2065V,K2040E,K2303R,N1990S,P2277R,Q1022H,Q572H,R105C,R105S,R1626H,R2051G,R2272C,R2476Q,S1976Y,T1858A,T1858M,T1858S,T2060S,T2419A,T2419S,T67I,V2011M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1378 245 dbsnp13726 NP_065120.2 "E20G,R42C,V91M" "0,0,0" 57111 12576 dbsnp13730 NP_004275.4 "A799S,E649A,G203R,G700R,H350Q,H738Y,I765M,I827V,K600T,L820V,M1L,R663K,S743C,S776R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9557 2627 dbsnp13734 NP_001191892.1 G21S 0 5087 7886 dbsnp13742 NP_073745.2 "A326P,A70S,G173S,H219R,N174K" "0,0,0,0,0" 64856 7678 dbsnp13749 NP_008865.2 "A192T,G177S,G623S,P401L,R651W,V354I" "0,0,0,0,0,0" 6536 4034 dbsnp1375 NP_001139681.1 "D867E,D930E,E352K,M1I,M608V,T215I" "0,0,0,0,0,0" 5138 2383 dbsnp13760 NP_001157101.1 "A351V,A451V,E228K,E777K,L481V,M779T,N29S,Q236K,Q317H,R647G,R706C,R706H,V362M,V526I,V74A,Y160H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80133 2823 dbsnp13772 NP_001242959.1 "E102Q,E236K,G116E,G227R,G242V,I108M,I244T,P50L,S8L,T208M,V250A" "0,0,0,0,0,0,0,0,0,0,0" 962 11876 dbsnp13774;dbsnp13775 NP_443100.1;NP_001193594.1 "A209P,A273S,A273T,A284G,A506T,D280G,E442D,E507K,E70K,G212E,G449R,R104H,R244H,R315W,R467Q,V541M,V90I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93185 4995 dbsnp13781 NP_056300.2 "M99I,N86K,T133M" "0,0,0" 25950 11550 dbsnp13792 NP_001093242.1 S207R 0 1580 6325 dbsnp13795 NP_963863.2 "A381S,D1053V,E278G,G519R,K1051N,K132E,L880M,M633V,P587L,P628H,P687A,P870S,S581F,T1068A,V854I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9887 1488 dbsnp1380 NP_009036.2 "G139R,G158E,G217S,G89D,L33V,N152T,R38W,R66L,T200P" "0,0,0,0,0,0,0,0,0" 5003 11840 dbsnp13801 NP_689712.1 "A305V,C252R,L220M,P67L,R236Q,R290S,S276L,V161L" "0,0,0,0,0,0,0,0" 149473 10722 dbsnp13806 NP_997074.1 S736R 0 8751 2808 dbsnp13807 NP_997077.1 "P767L,P769S" "0,0" 8751 2808 dbsnp13812;dbsnp13813 NP_002605.2;NP_001188254.1 "A394V,C379R,E491K,G126S,M160I,R171K,T358P,V372I" "0,0,0,0,0,0,0,0" 5174 6335 dbsnp13817 NP_001245145.1 H634Y 0 3595 2814 dbsnp13833 XP_933494.1 "C43S,C85Y,H187R,H82Y,K52T,Q178K,S9L,T4R,V157I,V21M,Y193S" "0,0,0,0,0,0,0,0,0,0,0" - 5743 dbsnp13837 NP_114407.3 "D124N,D157N,K256E,P296L,Q282H,T439S" "0,0,0,0,0,0" 83932 6860 dbsnp13838 NP_612157.1 "G151R,M141I,P115S,Q150H" "0,0,0,0" 90780 8475 dbsnp13841 NP_982281.1 "E282G,P152L,R137H,T296R" "0,0,0,0" 10450 10568 dbsnp13842 NP_997280.1 "M76V,N45S,R68G,T124A" "0,0,0,0" 388611 13474 dbsnp13846 NP_006465.3 "A223G,M119V,P40R,R135C,R16W,R230Q,T74M" "0,0,0,0,0,0,0" 10630 12172 dbsnp13849 NP_937816.1 "E498Q,H581Y" "0,0" 57822 4836 dbsnp1385 NP_001238994.1 A140T 0 9066 7045 dbsnp13851 NP_001139816.1 "A375V,C174R,C351S,D165A,D423N,D43N,E103G,K175N,L191M,L370V,N341H,P106L,P94S,Q377R,Q51H,R135K,R153C,R228C,R228H,S360N,V265M,Y234S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440560 5743 dbsnp13856 NP_001127705.1 "A149V,Q21E,S140N" "0,0,0" 284677 12244 dbsnp13861 NP_056261.4 "A1346T,A2131V,A2199V,A780D,D1931G,E1633G,E650Q,I1321V,I1430M,I1798M,I69V,I985M,K1868E,K1914E,K2139R,K2179R,K403R,L1650M,L2119F,L2194V,M1462V,M921V,N664S,N883S,P1103S,P1228S,P1267T,Q1971E,R1018Q,R1125G,R1158C,R1485C,R1485H,R1485L,R1948K,R2104H,R352G,R715C,R715H,R721H,S695C,T1345M,T1358A,T1451I,T1568S,T1750M,T2096I,T2214K,T596M,V307I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25909 309 dbsnp13862 NP_001191150.1 S166L 0 57116 1203 dbsnp13863 NP_065127.4 "A360T,E412G,I396V,M110I,N261T,R26Q,R353Q,V87A" "0,0,0,0,0,0,0,0" 57116 1203 dbsnp13864 NP_001116847.1 F105L 0 653604 14150 dbsnp13865 NP_057455.1 "K321E,S11T" "0,0" 51478 9889 dbsnp13869 NP_001191012.1 S134L 0 440574 14093 dbsnp13875 NP_002588.3 "M1I,R67Q" "0,0" 5132 11996 dbsnp13879;dbsnp13880 NP_001036146.1;NP_036234.3 "A655V,G373S,H1542L,H1542R,N323K,N425S,P1510T,P80L,R1557Q,T1281A,V233I" "0,0,0,0,0,0,0,0,0,0,0" 473 762 dbsnp13884 NP_001005388.2 "A1103V,D102E,I566V,I963V,I971M,K1050R,N35S,P563L,P920L,R534K,R691Q,T159M,V1128I,V545G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23114 1070 dbsnp13885 NP_996769.3 "E1016D,E443D,L1081V,N326T,N897D,R1108S,R370H" "0,0,0,0,0,0,0" 343099 1169 dbsnp13891;dbsnp13892 NP_062556.2;NP_001156008.1 "A66V,G178E,G261S,G384R,G71A,I40M,K9N,M1L,P98S,R270C,R33Q,R43C,T26A,V205D,Y234C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 494115 8748 dbsnp13896 NP_001130033.2 "A80V,D121G,E212G,E281K,F115L,H145R,L26P,N151D,R99G,V81D" "0,0,0,0,0,0,0,0,0,0" 440563 10730 dbsnp13897 NP_065112.1 "A241T,A479D,H382Y,P56A,R200C,V510M,V617M" "0,0,0,0,0,0,0" 57134 4555 dbsnp13899 NP_001096639.1 M1L 0 126767 8448 dbsnp13903 NP_941374.2 S17R 0 57449 1777 dbsnp1393 NP_612634.3 "G113E,I134L,L175R,P219A,R120G,R120H,R120S,R254P,R261Q,R270Q,R273C,R373W,R393C,R48H,R76C,T303M,V101G,V342I,W7S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90019 8564 dbsnp13940;dbsnp13941;dbsnp13942;dbsnp13943 NP_001156367.1;NP_055471.2;NP_001156366.1;NP_001156365.1 "E21Q,I11V,L38M,N65K" "0,0,0,0" 9674 13858 dbsnp13944 NP_060510.1 "A518T,A528T,D225N,E83Q,M474V,N155T,N523S,R212K,R212T,T437M,T481M" "0,0,0,0,0,0,0,0,0,0,0" 55105 6170 dbsnp13963 NP_579872.1 R36Q 0 127124 14423 dbsnp13965 NP_056933.2 "G235V,I251V,R228W" "0,0,0" 51032 11478 dbsnp13968 NP_001167579.1 "A187V,F560L,F781V,K574R,L391R,N105S,N426K,N426S,P222R,R393H,R76Q,S559G,S961N,T920A,V385I,V799G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100381270 2191 dbsnp13988 NP_001158011.1 "Q688R,R695P" "0,0" 27185 2690 dbsnp13997 NP_001230175.1 "A324V,A47S,A691V,A709S,D441G,D441V,D762N,E723K,F710Y,G468C,G502R,G750R,K363E,K602N,L524V,N510S,N795K,P204H,R243C,R447W,R501W,R690G,T436I,T773I,V415I,V599M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64175 3182 dbsnp1400 NP_689975.2 "A157V,D25E,F485S,G539S,H96L,M521V,Q327H,R303Q,R305Q,S90Y,V20A" "0,0,0,0,0,0,0,0,0,0,0" 254187 5755 dbsnp14011 NP_056473.2 "A127V,A203V,E306D,E515G,G542S,L215I,L670P,P237L,P53L,P544L,R164H,R395H,R460C,R587H,R623H,R639Q,R693Q,R693W,R7C,S231N,S586R,T394P,V332I,Y253F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26155 3620 dbsnp14017 NP_982284.1 "A374S,C501Y,D1213E,H382Y,H463R,I837R,K1034R,M623T,N1111S,N454S,P1028R,P958L,Q914R,T297A,T977I,Y1133H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23271 845 dbsnp14024 NP_061963.2 "D32N,E149G,E503K,G295R,H915L,K593E,N420S,Q672K,R233H,R303L,S579F,S62P,Y882F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54627 1915 dbsnp14034 NP_015562.1 "A567G,A89V,C355Y,C551G,H392R,I639V,K134N,K421E,M207V,P563S,P67S,Q414P,R357W,S234A,S234P,V27A,Y120C,Y287C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 948 dbsnp14040 XP_001717126.4 "A371T,A433V,E141G,E304K,E339K,G21S,I368V,K385R,K427N,L476F,M441I,N76S,P420L,P482L,Q434L,R521C,S110P,S526P,T130M,T414I,Y201C,Y283D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100130097 5163 dbsnp14043 NP_055905.2 "N870K,R831Q,R863K,V890M" "0,0,0,0" 23114 1070 dbsnp14057 NP_001229630.1 L80F 0 23261 669 dbsnp14058 NP_599152.2 "A785T,A797T,A820S,A93G,G481S,G77S,H250Y,H748R,L413V,N501S,P606L,R575Q,R584T,R804G,R849Q,S828P,V160A,V172M,V343M,V363M,V622L,V744M,V882A,Y453C,Y70N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115019 2682 dbsnp1405;dbsnp1406 NP_001138230.1;NP_055972.1 "A1108T,G513D,L469P,L714P,P471L,P570L,P948L,R1020H,R1177W,R1185W,R1192W,R1325H,R307C,R307P,R449Q,R663Q,R720Q,S1002C,T1248I,T397R,T477I,V727M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23187 1020 dbsnp14066 NP_001164194.1 A203G 0 84066 12272 dbsnp14068 NP_115502.2 "A119E,A146G,D33N,D97G,E55G,F81C,H157D,K131R,L171P,L171R,N192D,R233G,R42Q,R42W,T214A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84066 12272 dbsnp14070 NP_116261.1 "A399G,A95T,E136D,G365D,Q444R,R107H,R54H" "0,0,0,0,0,0,0" 84958 5659 dbsnp14074 NP_001164102.1 "A470T,D453G,H128Y,H163Y,L373I,R40K,R573G,R98Q,T271P,T502A" "0,0,0,0,0,0,0,0,0,0" 83953 5462 dbsnp14080 NP_115286.1 "E169V,R26W,R30Q,R62K,R83K" "0,0,0,0,0" 4660 2173 dbsnp14083;hgmd0613_2281 NP_620641.1 "D94E,F55I,G164S,G300R,G517S,G557R,H294Y,L51S,M35I,P190L,P357S,R212H,R486Q,R496W,R582Q,S5G,V116M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79574 5215 dbsnp14086 NP_009190.2 "E189G,I82M,R246Q,R555Q,T163A,Y519C" "0,0,0,0,0,0" 11311 5553 dbsnp14092 NP_067002.1 "A41V,E428D,F172S,F238I,I83V,P295S,R359Q,S303N,S323C" "0,0,0,0,0,0,0,0,0" 57821 6486 dbsnp14099 NP_115505.2 "A43V,A482T,D258E,E303K,E477Q,E586K,G346D,G569S,G600R,I160V,I292F,L66V,P384L,R362H,R487P,R576Q,S333P,S439N,S448L,S497L,S4N,S4R,S4T,S511P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84069 4444 dbsnp14108 NP_001182085.1 "A98S,V138L" "0,0" 100506144 13845 dbsnp14111 NP_001153514.1 "A306T,C169Y,C297Y,D154N,E500K,F289C,G381E,G385R,G528V,I348T,K94N,P47A,P544L,R110L,R264C,R447Q,R491T,T451I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55721 5902 dbsnp14113 NP_724781.1 "D320N,D510H,E149D,E405K,E835K,G683R,L619S,M231T,M696T,P760T,P830S,Q346R,R440Q,R583C,R583H,R698C,V504M,Y562H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1441 2811 dbsnp14116 NP_002823.3 "A191V,Q340H,Q37R,R113H,R142Q,R245W,R339Q,R33Q,R33W,R349C,R410Q,T14M,V163I,V393I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5778 7309 dbsnp14118 XP_003119205.1 "H103P,P4H" "0,0" - 12798 dbsnp14120 XP_002344489.1 "R70H,V42M" "0,0" - 13909 dbsnp14137 NP_001136032.1 "A268V,R127Q,R238P,S252A" "0,0,0,0" 51093 7109 dbsnp14138 NP_001192181.1 "A172T,A172V,A189V,G38D,P214L,R181W,V73I" "0,0,0,0,0,0,0" 401934 11935 dbsnp14145;dbsnp14146 NP_001123551.1;NP_066014.1 "A767V,D718N,E18Q,P175A,P277L,R142H,R258Q,R393Q,R424C,R730H,R765H,Y233H" "0,0,0,0,0,0,0,0,0,0,0,0" 4343 2097 dbsnp1415 NP_001129584.1 "D75V,E366K,E395Q,F42L,G9V,K32N,K90N,L347V,L39W,L88R,R181H,R311H,T119A,T60I,V137M,V230L,V52M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 838 7644 dbsnp14152 NP_115724.1 "A41T,D396N,L360I,M398I,R335Q" "0,0,0,0,0" 54587 7730 dbsnp14156;dbsnp14157 NP_997667.1;NP_002587.2 "A289T,G466E,G48S,G67R,K445R,P366S,R19H,R426W,R465Q,T166M,T31M" "0,0,0,0,0,0,0,0,0,0,0" 5129 5556 dbsnp14160 NP_001092909.1 "A642V,A955T,F281I,G749E,L14V,L629P,M836L,M968V,R143C,R618H,R69C,R807Q,R807W,S559C,T220K,V1006M,V103L,V202I,V264G,V645I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284656 2077 dbsnp14165 NP_001172046.1 "G172S,I171V,R159Q,R186C,S181G" "0,0,0,0,0" 149461 12447 dbsnp14170 NP_653223.2 "A368V,A566V,C55G,E408K,G13R,G203S,N296S,R157Q,R263C,R320Q,R467H,R491H,R491S,R522W,R632H,R93Q,S618G,V27M,V304I,Y598S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127579 3428 dbsnp14173 NP_078930.3 "A598T,C13R,L198F,P239L,P695S,R196W,R209C" "0,0,0,0,0,0,0" 79707 4059 dbsnp14182 NP_001124396.2 "A207T,G238R,H69L,L119V,P408A,P499A,P547H,P579L,R141C,R603C,R636C,S108L,T259K,T44M,V479G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199953 4418 dbsnp14184 NP_001185791.1 "D207N,N47D,R171C,R298H,S43Y" "0,0,0,0,0" 55248 8368 dbsnp14185 XP_934596.2 "H10Y,I125T,Y9H" "0,0,0" 646567 13910 dbsnp14188 NP_001171532.1 "D85N,E673G,G552D,K346T,L31F,M441I,P207S,P589L,R264C,R483W,R543T,T455P,T68A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10500 2278 dbsnp14189 NP_060959.2 "A1598V,A1818V,C440G,D2577N,F2444S,F604Y,I1107V,I116T,K1531N,M1502V,N1941D,P1768S,P1961S,P1981S,P524S,R1615G,R164H,R2523H,R777H,S1416P,S1754C,S575A,S608N,T1771A,V2888I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55870 150 dbsnp14191 NP_689820.2 "C343Y,F377S,G126C,G240S,G410C,P202S,R100W,R306L,R370W,R374G,S150A,S57C,T144I,T19M,Y60C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 163747 8200 dbsnp14192 NP_653296.2 "I196F,I196V,L212R,P54T,Q88H" "0,0,0,0,0" 148362 8369 dbsnp14194 NP_001231682.1 "A114D,A231T,G17S,G4R,I142V,M37T,N101S,S13P" "0,0,0,0,0,0,0,0" 2215 11104 dbsnp14198 NP_001185967.1 "A212T,C439Y,D96N,E15K,E363K,G312S,G392S,G58W,G86R,I338V,M427I,R349H,R384Q,R459H,R461C,T113M,V59E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347735 7143 dbsnp14212 NP_872384.1 "A230D,D93G,M41T" "0,0,0" 284486 11973 dbsnp14213 NP_065976.2 "A858V,D257N,E305G,F853L,G1109D,G358S,M363R,M363T,M670I,M992T,N53S,P1159L,P1183R,R162P,R499Q,T1218S,T24S,T547I,V660I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57685 1218 dbsnp14215 NP_001116540.1 "A128V,F112L,G74D,G74S,I6V,Q24L,T68I" "0,0,0,0,0,0,0" 644591 121 dbsnp14230 XP_001722083.1 "A126S,H61R,P182S,R85H,T156I,T76I,Y26N" "0,0,0,0,0,0,0" - 11985 dbsnp14236 NP_001026850.1 "A386T,G335R,I18N,S3L,T314P,V141I" "0,0,0,0,0,0" 864 7973 dbsnp14240 NP_006393.2 "E122D,E2K,E77G,G65V,P45L,P71L,S17N" "0,0,0,0,0,0,0" 10542 13496 dbsnp14241 NP_001129737.1 "G174V,N232K,R329C,V352I,V491M" "0,0,0,0,0" 126917 5538 dbsnp14255 NP_001230455.1 G117S 0 81888 11326 dbsnp14259;dbsnp14262 NP_009089.4;NP_001229822.1 "A139V,I462V,Q762P,V222G" "0,0,0,0" 7812 2935 dbsnp14265 NP_932340.3 "F29V,H177Q,H245Y,I30L,R224Q,S39L,T134I" "0,0,0,0,0,0,0" 81472 9497 dbsnp1427 NP_689929.2 "F37L,K398R,L293F,R657Q,S651R,S91T,Y645C" "0,0,0,0,0,0,0" 219988 3445 dbsnp14273;dbsnp14275 NP_001186018.1;NP_001186014.1 "A144T,A368V,E776K,F239V,F525C,G694V,K260E,K358E,M104T,M255V,N752D,N922K,P590L,Q288R,R126S,W850S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 163589 1962 dbsnp14279 NP_001277.1 "F499L,L625M,R501C,V580M,V814I" "0,0,0,0,0" 1185 2777 dbsnp14281 NP_060555.2 "E338K,F337L,L778P" "0,0,0" 55705 1936 dbsnp14282 NP_001083060.1 "E25K,E6K,Y53C" "0,0,0" 440567 14749 dbsnp14283 NP_001188479.1 "D258E,D372G,E578K,G553E,N116K,N210S,Q389L,R287H,R412Q,R412W,S489P,T328I,V93A,V93I,W233C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10877 5451 dbsnp14285 NP_543151.2 "D454N,F72L,K746E,M102T,R568W,R91G,V742G" "0,0,0,0,0,0,0" 142678 1821 dbsnp14293 NP_079173.2 "E263K,G118V,R168G,S338N,S75N" "0,0,0,0,0" 79957 9638 dbsnp14296 NP_001161212.1 "A188V,G342S,H220R,K13N,M155L,N424S,R265H,V368I,V67I" "0,0,0,0,0,0,0,0,0" 64754 7987 dbsnp14303 NP_689702.1 "I90T,R165C" "0,0" 148581 10367 dbsnp14305 NP_001073866.1 "A207P,A207V,A503S,G384C,G410S,R42W,R670Q,V694L" "0,0,0,0,0,0,0,0" 50651 3630 dbsnp14317 NP_057392.1 "E107K,G8R,N115S,Q80H" "0,0,0,0" 51727 12374 dbsnp14319 NP_001182144.1 "G563S,H424Y,K50M,L300W,M597V,N773K,P560L,R445W,R507C,R721Q,T183A,V216M" "0,0,0,0,0,0,0,0,0,0,0,0" 163486 2076 dbsnp14325 NP_001137415.1 "P78L,R131C,R131H,S128L,S128T" "0,0,0,0,0" 84288 13686 dbsnp14347 NP_005946.2 "D63E,D706G,I575V,N571D,P440S,P445S,Q523P,T364I" "0,0,0,0,0,0,0,0" 4520 3588 dbsnp14349 NP_689699.2 "D55N,E580G,G105S,G559A,G56S,G651S,G665A,H78Y,H89Y,L632F,M529V,N586T,P484L,P512L,R128P,R156H,R180Q,R28W,R41Q,R598W,R67Q,R68Q,R80C,T585S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148398 4263 dbsnp14356 NP_689593.2 "H50N,M460R,P294S,P387A,R221H,R336K,T212K" "0,0,0,0,0,0,0" 6913 5050 dbsnp14359 NP_001034864.2 "D1573N,D322Y,E1002G,E1454Q,E1459Q,F542S,G1177D,G1213R,G1276D,G417E,I1655M,K1084N,K445T,P104L,P1545L,P321L,P657L,P689T,R1256W,R14Q,R1532C,R1608C,R1639W,R215C,R25W,R847H,R847P,R848K,R984S,S1294N,S1616L,S168C,S410T,S487P,S569P,S716Y,S902Y,T1420M,T1428I,T359A,V1557L,W1611C,Y1136D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55057 678 dbsnp1436 NP_958831.1 "A179T,A6E,A715T,A817T,A989T,D482H,I373V,K85E,M288V,P584L,Q710E,R174K,R745H,S5L,S869F,V121I,V452A,V540F,V579F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10313 1972 dbsnp14361;dbsnp14362 NP_775845.2;NP_001108231.1 "A191T,A259V,A276P,D48G,D48V,D51G,D95E,E184D,G22V,G285C,H53R,K483N,L134V,P495L,Q32R,R288L,S56F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 257101 6224 dbsnp14369 NP_001038944.2 "G6V,I14T,M21T,N53D,S67P,Y31N" "0,0,0,0,0,0" 645922 14518 dbsnp14374 NP_742068.1 "D795N,D831N,G921S,P706S,P935A,Q713E,R852Q,T275A,T59I,V146A,Y719H" "0,0,0,0,0,0,0,0,0,0,0" 149041 1614 dbsnp14378 NP_892021.1 "E505D,I384M,P244Q" "0,0,0" 284695 5390 dbsnp14381 NP_001019386.1 "G311R,I276T,P170L,R38Q,R39C,S11L,S191F,S61I,V174I" "0,0,0,0,0,0,0,0,0" 54751 9122 dbsnp14384 XP_060943.1 "A51T,F99Y,G126V,L56F,M1T,S12Y,T69R" "0,0,0,0,0,0,0" 128322 14300 dbsnp14391 NP_112180.4 "A305V,D386H,E459K,I443F,M413L,T313M,V323M" "0,0,0,0,0,0,0" 81609 5976 dbsnp14395 NP_660322.2 "M130V,M228V,M28I,R212P,R212Q,R3H,Y83H" "0,0,0,0,0,0,0" 148932 11528 dbsnp14412 NP_683699.1 "G188E,R163T,R175C" "0,0,0" 8784 11810 dbsnp14414 NP_005531.2 "D871H,E320K,F313L,G46S,H314N,H852Q,M665T,Y415H" "0,0,0,0,0,0,0,0" 3633 2133 dbsnp14418 NP_001375.2 "A242T,A449V,P20S,P25L,R282H,R455Q,R477Q" "0,0,0,0,0,0,0" 1802 6863 dbsnp14427 NP_002957.1 "A77V,D60E,K18R" "0,0,0" 6281 14703 dbsnp1443 NP_112597.3 "G422R,G47R,I128N,L423V,M228I,M408I,P179S,P375L,R159H,R432H,R53H,T371S,V234L,Y336H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83480 6986 dbsnp14431 NP_115681.1 "E185G,R120Q" "0,0" 84265 12486 dbsnp14439 NP_001180573.1 "V276A,V276L" "0,0" 5824 10891 dbsnp14441 NP_115501.2 "F170C,G117R,R208W,S40A,V179I,V201I" "0,0,0,0,0,0" 84065 12799 dbsnp14442 NP_001230695.1 "A716V,E684D,S738R,T713A" "0,0,0,0" 55624 3631 dbsnp14444 NP_005755.1 "T13M,V68I" "0,0" 10158 14492 dbsnp14445 NP_002065.1 "E10G,R256H" "0,0" 2782 8679 dbsnp14446 NP_003748.1 "A163S,C120R,D59V,E221D,H51R" "0,0,0,0,0" 8668 10282 dbsnp14447 NP_004252.2 V29L 0 9403 13629 dbsnp14453 NP_116145.1 "G272R,I224T,K320N,L338P,Q290R,R309G,R37W,T263M" "0,0,0,0,0,0,0,0" 84842 9187 dbsnp14454 NP_004921.1 "F249S,K23T,V43A" "0,0,0" 832 11333 dbsnp14456 NP_004506.2 P19Q 0 3608 8808 dbsnp14457 NP_056422.2 "G202A,M41I,R103Q,R174H" "0,0,0,0" 26097 11936 dbsnp14461 NP_954572.2 "L43I,R39W,R41K,R49C,R49S" "0,0,0,0,0" 64856 7678 dbsnp14466 NP_001243331.1 V15G 0 64834 11877 dbsnp14468;dbsnp14469 NP_073732.1;NP_001243328.1 "G188V,I242T,M222I,V5M,V96G" "0,0,0,0,0" 64834 11877 dbsnp14470 NP_001177916.1 "A126S,S360P" "0,0" 9295 6937 dbsnp14473 NP_001185885.1 "A242S,A295V,A633T,A744V,D623G,E694Q,F599L,G4R,G758R,L666H,R747Q,S520P,T292S,T644I,V624A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55827 2339 dbsnp14485 NP_001230447.1 "G10E,V12D" "0,0" 2104 6498 dbsnp14496 NP_733843.1 "K352N,Q446R,R279Q,R279W,R375H,R381Q,R540Q,S416T,T125N,V105I,V18L,V374I" "0,0,0,0,0,0,0,0,0,0,0,0" 267002 5251 dbsnp14505 NP_001245218.1 "A426T,E174K,E323K,E409K,R253Q,R38H,S413C" "0,0,0,0,0,0,0" 8991 6415 dbsnp14516 NP_001186791.1 "I395V,R36Q,R54H,T5M,V130A,V147I" "0,0,0,0,0,0" 8514 8185 dbsnp14517 NP_775780.1 "A156G,G116V,S66I,Y128F" "0,0,0,0" 148753 13602 dbsnp14518 NP_008965.2 "I267V,P131L,T253I" "0,0,0" 11080 7375 dbsnp14519 NP_001092904.1 "H293Q,R121W,V78A" "0,0,0" 149069 9695 dbsnp14522 NP_683868.1 R153K 0 8718 8027 dbsnp14525 NP_683866.1 G205S 0 8718 8027 dbsnp14527 NP_055453.2 "A1113T,A164T,A506T,D159N,D962N,E1301A,G1402R,H126Q,M237T,Q1369E,Q208H,R1083W,R1191C,R1336W,R914W,R918L,V346M,V560M,V596M,V877L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9651 960 dbsnp14528 NP_001243544.1 "A75S,P9S,R70H,R71H,S93N" "0,0,0,0,0" 149373 14368 dbsnp14532 NP_003030.1 "I110V,I263V,P431L,P461L,R159Q,R57S,S273L,S280T,T400I,T400S,V111M,V16M,V327I,V75M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6518 12042 dbsnp14533 NP_078962.4 "I608V,I796M,K34E,K524N,L823M,Q6E,R619C,R778H,V770I" "0,0,0,0,0,0,0,0,0" 79739 2683 dbsnp14534 NP_001004432.1 "I288N,L329Q,L369M,P246R,R140H,R140L,R189C,R365C,R371W,S157G,S284F,T444S,T98N,V300A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339398 5235 dbsnp14537 NP_945324.1 "P342S,R346C" "0,0" 8569 7299 dbsnp1454 NP_996810.1 "A211G,A825D,A826T,A996V,D163G,D369G,D58N,D992E,E594D,E626K,H984D,I562T,I59V,I92V,K928N,M1V,M334V,M79T,N127D,N127Y,P367L,P698L,P714T,P715T,R239W,S839L,T383M,T882I,V618M,V949G,W453G,Y614H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54843 1224 dbsnp14540 NP_001140157.1 "G49S,P150T,P45L,V76I" "0,0,0,0" 643965 13669 dbsnp14541 NP_002688.3 "E442K,N686S,P114S,S101L,S493N,S745P,S97F,T276A,T574A" "0,0,0,0,0,0,0,0,0" 5451 3466 dbsnp14544 NP_115646.2 "D467V,I431V,K304N,P508H,P508L,P84H,S668N,T78I" "0,0,0,0,0,0,0,0" 84230 3186 dbsnp14550 NP_065821.1 "A772G,A794V,A940T,E1038G,E608G,E771K,G12S,K384R,K414Q,M594T,Q638E,Q776R,R11Q,R11W,R196W,R199C,R227W,R229C,R265C,R281W,R394Q,R429C,R485Q,R547K,R660Q,R717W,R718W,R737W,R796Q,R807Q,R910Q,R973Q,T1069A,V108G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57530 1414 dbsnp14552;dbsnp14554 NP_001185703.1;NP_001185702.1 "A193S,I87S,K60Q,P21R,T34M" "0,0,0,0,0" 5298 3045 dbsnp14555 NP_001010846.1 "A322T,D291N,S22F,S376L,T197M" "0,0,0,0,0" 126669 6754 dbsnp14558;dbsnp14559 NP_904320.1;NP_904319.1 "A176T,A212T,E160K,R123H,R144C" "0,0,0,0,0" 93611 11025 dbsnp14560 NP_940895.1 "E212K,E4D,E8Q,L180I,Q17K,R142W" "0,0,0,0,0,0" 339416 11571 dbsnp14572 NP_996925.1 A74V 0 2029 14139 dbsnp14577 NP_001229601.1 "A103T,A360S,A371V,D154N,G244E,G304E,H36R,P209L,Q350R,R335H,R472L,R79Q" "0,0,0,0,0,0,0,0,0,0,0,0" 100287898 5608 dbsnp14578 NP_848516.1 "A43E,G98W,R83Q,S72C" "0,0,0,0" 353140 14422 dbsnp14579 NP_001160136.1 E127Q 0 51744 9196 dbsnp14581 NP_057466.1 D127H 0 51744 9196 dbsnp14592 NP_057083.2 A307V 0 51094 8873 dbsnp14594 NP_079256.4 "A199V,A223V,D160N,N71D,P258L,R110S,R218C,V11M,V33A" "0,0,0,0,0,0,0,0,0" 80045 10030 dbsnp14599 NP_065185.1 "A1210V,A51G,E334K,E620D,K774R,L82F,N571S,P344R,Q149R,R1154C,R54Q,R648C,T765I,Y621C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57198 1350 dbsnp14602 NP_001152869.1 Q337K 0 115350 6510 dbsnp14605 NP_001229668.1 "E60K,G48E,G51D,S39N" "0,0,0,0" 51058 10539 dbsnp14613 NP_996671.1 "I95V,I98V,R46Q" "0,0,0" 4931 2856 dbsnp14615 NP_064589.2 "A19T,A48T,N331I,R271L" "0,0,0,0" 56956 8483 dbsnp14619 NP_001186780.1 "S30F,S30Y" "0,0" 7818 8620 dbsnp1463 NP_037396.3 "M115R,S46F" "0,0" 29118 6950 dbsnp14636 NP_848644.2 "C298G,C406Y,C490G,C546Y,E407D,G42R,H538N,K367T,P207T,P459T,Q104R,R200I,R543H,S259G,T252I,T455S,V244L,W125R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339500 1203 dbsnp1464 NP_689645.2 "A380T,A743T,I105N,L473F,P319L,R794Q,S751R,V561I,V713I" "0,0,0,0,0,0,0,0,0" 143872 2748 dbsnp14641 NP_039234.1 "A187S,R206C" "0,0" 25932 4043 dbsnp14645 NP_689873.1 "R87H,S295I,S306F" "0,0,0" 199870 9890 dbsnp14652 NP_112195.2 "A44S,A89E,G4R,H384P,I249T,K145E,K619T,L147V,N434H,R371H,S112F,S18R,S653N,T652P,V447A,V491M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81626 3831 dbsnp14653 NP_055964.3 "F230L,K336R,N654S,S217C,S267P,T607I,V30G" "0,0,0,0,0,0,0" 23179 3190 dbsnp14654 NP_001035214.1 "A145T,E160K,G173D,S16N" "0,0,0,0" 54896 11069 dbsnp14657 NP_001013682.2 "A402G,G88D,I12M,K149N,M377T,M555I,Q302K,T276M,T310N,T481I,V28I" "0,0,0,0,0,0,0,0,0,0,0" 391059 4843 dbsnp14659 NP_002370.1 "K449Q,K480I,K59N,L402P,P457L,R343Q,R50H,V52I" "0,0,0,0,0,0,0,0" 4146 6730 dbsnp1466 NP_001138341.1 "A123P,A53V,E207V,T190S" "0,0,0,0" 387787 12310 dbsnp14664;hgmd0613_1007 NP_003027.1 "A388V,A399V,A510T,C449W,S214G,S494C,T271P,V525I" "0,0,0,0,0,0,0,0" 6497 3805 dbsnp14666 NP_689879.2 "A213T,D527N,E171Q,F514L,K337E,Q245R,R534Q,T426I" "0,0,0,0,0,0,0,0" 200150 6049 dbsnp14672 NP_001116307.2 "D99E,N439S,P445L,P605L,R491C,R801H,S53A" "0,0,0,0,0,0,0" 79573 2834 dbsnp14674 NP_001098018.1 "A80T,L42I,P26L,R50Q,S24A" "0,0,0,0,0" 642587 14624 dbsnp14676 NP_085152.2 "A526P,C538Y,D595N,E221Q,E348Q,E514V,E638V,R62C" "0,0,0,0,0,0,0,0" 116983 3011 dbsnp14677 NP_000428.2 "A141S,A141V,D362H,D362N,G19S,G2E,H235Y,M219I,R85C,V171A" "0,0,0,0,0,0,0,0,0,0" 5051 8761 dbsnp14680 NP_001004689.1 "A216T,A82V,D11N,E296K,G142R,G88V,I289N,L32P,L63F,M1V,N19S,N42Y,R122C,R261W,R293S,T105A,T105I,V44F,V78I,V78L,Y259H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127062 9740 dbsnp14685 NP_036331.1 "A10G,P670L" "0,0" 26523 2824 dbsnp14688 NP_001139782.1 "G191R,G36C,P45S,R185W,R87H,S150W,T58K" "0,0,0,0,0,0,0" 199990 13085 dbsnp14690 NP_689909.2 "L1056F,L1071V,V1049I,V1049L,V1063I" "0,0,0,0,0" 204851 1394 dbsnp14705 NP_001152825.1 "G88A,P87L" "0,0" 83998 13768 dbsnp14706 NP_055467.3 "A886P,A916P,D257N,L132F,Q244L,R219C,R294Q,R917C" "0,0,0,0,0,0,0,0" 9670 2271 dbsnp14708 NP_057631.1 "A333V,R323Q" "0,0" 51150 9362 dbsnp14709 NP_001095867.1 P421L 0 10236 4738 dbsnp14713 NP_003984.2 "K222N,R112C,R19S,R431H,R45H,R56Q,S38T,T42I" "0,0,0,0,0,0,0,0" 1196 4713 dbsnp14718 NP_060243.2 "A151T,A178V,A53V,D312N,E250Q,G248A,H172Q,P131T,P396S,R26H,R64Q,S303T,V152G,V176I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54900 8632 dbsnp14723 NP_001129057.1 L235M 0 6518 12042 dbsnp14732 NP_001012776.1 "E250K,G233R,G327E,K283N,P299L,P299T,S116N" "0,0,0,0,0,0,0" 200035 10206 dbsnp14774 NP_001106678.1 A17V 0 100131187 14479 dbsnp14781 NP_001073963.1 "D525A,F316L,I554M,M1V,V254G" "0,0,0,0,0" 22996 4253 dbsnp14793 NP_003704.3 "A261V,Q119H,T282M,T283M,V94I" "0,0,0,0,0" 8613 10640 dbsnp14794 NP_001171724.1 "A84V,N78S,S136P" "0,0,0" 8799 11731 dbsnp14797 NP_112199.2 "A477V,D478N,D478V,D56E,M125V,R507H,T71S" "0,0,0,0,0,0,0" 81669 6198 dbsnp1480 NP_001326.2 "A108V,A140T,I141V,L165P,R106Q,R51Q,S114G,S207N,V176I,V178L,V178M,W166R" "0,0,0,0,0,0,0,0,0,0,0,0" 1521 9069 dbsnp14806 NP_065754.2 "A25T,A429S,G452D,L59V,N454S" "0,0,0,0,0" 57463 6796 dbsnp14810 NP_001036014.1 "F201S,T193I" "0,0" 25936 11252 dbsnp14811 NP_004392.1 "A152T,A236V,C165R,E109G,E200G,I69T,L255F,R291W,R296C,R325Q,S204T,S305F" "0,0,0,0,0,0,0,0,0,0,0,0" 1676 10127 dbsnp14812 NP_006076.4 "A221V,D213N,P308S" "0,0,0" 10380 10701 dbsnp14813;dbsnp14814 NP_001430.1;NP_001028197.1 "G15R,I252V,M210V,M315T,P107Q" "0,0,0,0,0" 2135 10152 dbsnp14819;dbsnp14820 NP_001244289.1;NP_004028.3 "A82T,R540Q,R556C" "0,0,0" 271 2722 dbsnp14826 NP_001004693.1 "A117V,L301F,M199T,M59V,P161L,P161R,Q266H,R26C,R299G,S190A,S242F,Y220F" "0,0,0,0,0,0,0,0,0,0,0,0" 127069 9213 dbsnp14828 NP_683865.1 "G162S,G352R,I148T,I82V,P293T,P353S,R37W,T271A,T292I,V160M,V248F,W103C" "0,0,0,0,0,0,0,0,0,0,0,0" 1510 8560 dbsnp14829 NP_001901.1 "N318S,Q277H,T340N,V345M" "0,0,0,0" 1510 8560 dbsnp14832 XP_003403465.1 "C217Y,E187K,G84S,N19S,R177Q,R58W,S176P,T79M,V124L,V125M,V158M,V5M" "0,0,0,0,0,0,0,0,0,0,0,0" - 10763 dbsnp14839;hgmd0613_1825 NP_059145.2 "A31T,A731T,D283H,E477K,I361V,R155H,R369Q,V249G,V414I,V650A" "0,0,0,0,0,0,0,0,0,0" 2048 1872 dbsnp14852 NP_001244894.1 S864T 0 23418 970 dbsnp14863 NP_002858.2 "D189G,M187V" "0,0" 5865 12401 dbsnp14864 NP_775779.1 "A150T,C144G,M290T,R129G" "0,0,0,0" 148641 6851 dbsnp14875 NP_775913.2 "E325K,R14H" "0,0" 284716 8785 dbsnp14888 NP_620149.1 "G6W,I105T" "0,0" 127018 12180 dbsnp14892 NP_037481.1 "T118M,V100I" "0,0" 29937 13516 dbsnp14894 NP_003656.2 "A236T,D138V,E126K,F144L,G284S,R136C,R260P,R85L,R85W,T125A,V287A" "0,0,0,0,0,0,0,0,0,0,0" 8547 10899 dbsnp14896 NP_689821.3 "D296Y,D381G,H276R,P13L,T314I" "0,0,0,0,0" 163859 7576 dbsnp14897 NP_055224.1 "D160G,D227N,D549N,G557C,R166H,T375A,V241I" "0,0,0,0,0,0,0" 27097 5289 dbsnp14898 NP_001172022.1 T2A 0 4817 10228 dbsnp14899 NP_001172023.1 M1I 0 4817 10228 dbsnp14900 NP_005591.1 "F4V,G153R,G173V,M37I,N299S,P32L,S231C,V156E,V167I" "0,0,0,0,0,0,0,0,0" 4817 10228 dbsnp14905 NP_001812.2 "A209V,A24G,E206D,H337R,I14V,I213V,I354M,N4I,N4S,N632H,Q365R,R417Q,V172I,Y256S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1122 4526 dbsnp14907 NP_001158229.1 "S99N,V330M" "0,0" 9722 6552 dbsnp14909 NP_996668.1 Y209H 0 127700 8818 dbsnp1490;dbsnp1491 NP_001124463.1;NP_006380.1 "A425V,A777P,A777T,A880T,K342E,K398R,K919E,K94Q,M36I,N181S,N996T,R278Q,R7K,T175N,V19L,V239I,V559I,V677I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10525 2115 dbsnp14911 NP_660281.2 "D713A,E907K,K35R,T755I,T924I" "0,0,0,0,0" 7579 1926 dbsnp14912 NP_076942.1 "A100V,F50L,F68I,N322S,S150L,S181N,V13L" "0,0,0,0,0,0,0" 79000 9498 dbsnp14913 NP_055273.2 "C9Y,M236I,S447N,T10I" "0,0,0,0" 27252 5036 dbsnp14915 NP_001026855.2 "A189V,A442V,A502T,H665Y,M307V,M399L,M399V,N849I,N852D,Q229K,Q634H,R90C,V451D,V469I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7159 1608 dbsnp14916 NP_068567.1 M367V 0 2005 7922 dbsnp14935 NP_570138.1 "K89N,R45G,R65G" "0,0,0" 64407 12245 dbsnp14936 NP_060531.2 "H539R,K464R,R352K,R411W" "0,0,0,0" 55119 5903 dbsnp14937 NP_001106954.1 N374S 0 149175 7369 dbsnp14940 NP_612359.2 E160A 0 90326 12148 dbsnp14942 NP_689414.1 "A198V,A5T,A655V,A735T,G367C,G448R,G832R,K155N,L440Q,L478I,L70V,M818I,R247H,R369H,R482H,R486H,R510W,R813K,R94C,V381M,W682R,W72G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83756 2884 dbsnp14947 NP_031391.2 "A149T,A32V,A571T,D259N,D633N,E199K,E628K,P281L,R157Q,R225H,R233Q,R293W,R580H,R619C,V419M,V589L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11240 4429 dbsnp14948;dbsnp14949 NP_116025.1;NP_001027462.1 "P256S,R282Q,R307Q" "0,0,0" 84722 9339 dbsnp14953 NP_001002901.1 "A301P,A397D,G383D,L68R,T32I,T59I,T79I,W2C" "0,0,0,0,0,0,0,0" 127943 8028 dbsnp14954 NP_060515.3 "A239S,I234V,I391V,S127L,S214N,S280N,T47M,T54M" "0,0,0,0,0,0,0,0" 55108 7647 dbsnp14958 NP_001243043.1 "A315V,A31V,M1L" "0,0,0" 431707 8765 dbsnp14969 NP_001240779.1 "I23T,L8P" "0,0" 79679 11243 dbsnp1497 NP_001229861.1 "A228T,E177K,G232A,H34Q,K345R,L383M,P109T,P20R,P409Q,Q236L,Q299R,Q364H,R186W,R371Q,R64W,S54C,V153M,W29C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4046 7269 dbsnp14970 NP_078902.2 "I23T,L8P,M1K,N140H,S192L" "0,0,0,0,0" 79679 11243 dbsnp14971 NP_002516.2 "A12P,A56P,E717K,G559S,K326N,K687R,L484S,P44L,T1033S,T59A,T801M,V5I,Y900S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4898 1364 dbsnp14974 NP_904325.2 "E1006G,G881D,G896R,I1031T,M807I,N1112S,Q864H" "0,0,0,0,0,0,0" 23095 552 dbsnp14981 NP_001138749.1 S237C 0 55707 11367 dbsnp14985 NP_612355.1 "D475E,E410K,E630K,L336R,L382V,R77W,T542I,V362M,V455A,V497M" "0,0,0,0,0,0,0,0,0,0" 90231 4755 dbsnp14986 NP_037428.3 "E490K,G356R,G491A,G491V,K233E,L496I,P624L,R127Q,R273Q,S580L,S607F,S638P,T457M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 29899 4236 dbsnp14989;dbsnp14990 NP_443172.1;NP_001243338.1 "K389E,M57V,R343L,R42G,R83Q,S342F,T176S,V377L" "0,0,0,0,0,0,0,0" 115353 7988 dbsnp14991 NP_001005290.1 "A222V,A262T,A86V,I32V,L16W,L309P,P187T,R113Q,R136Q,R147Q,R149W,R221W,R27H,R96Q,S142R,V62L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84722 9339 dbsnp14997 NP_997054.1 N83S 0 23126 966 dbsnp14999;dbsnp15000;dbsnp15001 NP_690048.1;NP_001230461.1;NP_001230462.1 N137S 0 149420 6078 dbsnp15 NP_001777.1 "K279R,V124G" "0,0" 983 5556 dbsnp15006 NP_057060.2 "A390S,F250L,G3S,K263E,K276T,M324I,R117K,R323W,S123T" "0,0,0,0,0,0,0,0,0" 51375 7581 dbsnp15008 NP_006599.2 "I125V,K14E,N468Y,N89S,Q237K,R498C" "0,0,0,0,0,0" 10745 3505 dbsnp15009 NP_064575.1 "A195S,M235L,R187S,R382H,R92W,T356I,Y369H" "0,0,0,0,0,0,0" 56944 8476 dbsnp15013 NP_212132.2 "A877G,D1309G,F1584Y,G1535S,G834R,G871E,I824T,K487R,K586E,L529F,L791I,M181V,M2107V,M674V,N42S,P1080H,T1132M,T1281M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85440 362 dbsnp15014;hgmd0613_1524 NP_006591.1 "D148G,E94A,Q64K,R205Q,R70G,R81Q,V200M" "0,0,0,0,0,0,0" 10726 10128 dbsnp15026 NP_981957.1 "A139G,A154T,H83P,R121H,V144E" "0,0,0,0,0" 164153 13479 dbsnp15027 NP_001830.1 "G310V,N47S" "0,0" 1266 10179 dbsnp15033 NP_694421.1 "A91V,E122D,Q3R,T8N" "0,0,0,0" - 5194 dbsnp15034 NP_078863.2 "A70V,L135V,R131C,R134H,T9I,V175M" "0,0,0,0,0,0" 79639 11334 dbsnp15035 NP_112570.2 "N99K,R171L,S124C,T252I,T252R" "0,0,0,0,0" 64960 11772 dbsnp15036 NP_112739.2 "A887T,D293G,D505G,G754S,G877E,M768V,Q1103R,R1048K,R954Q,R973Q,T1096I,T1102M,T715I,V428L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51742 1144 dbsnp15041 NP_004666.1 A28S 0 9077 12348 dbsnp15042 NP_872620.1 "E300D,F357L,F357V,L105V,Q235H,R155L,R155Q,R335Q,S137P,T321I,T356S" "0,0,0,0,0,0,0,0,0,0,0" 54865 9101 dbsnp15048 NP_689706.2 "A136T,G412S,P188A" "0,0,0" 149076 8160 dbsnp15052 NP_078798.2 "L125P,R124H,R124P,V167L,V73I" "0,0,0,0,0" 79570 12782 dbsnp15058 NP_004805.2 "I187M,L24W" "0,0" 9410 9507 dbsnp15064 NP_001755.1 "A274V,E85Q,G104S,G137R,G247S,R186Q,R219H,R326H,V144A" "0,0,0,0,0,0,0,0,0" 910 8827 dbsnp15068 NP_001241678.1 "E92D,N41H,N90K,P150L,R176H,S105A" "0,0,0,0,0,0" 8490 10820 dbsnp15070;dbsnp15071 NP_073590.2;NP_001243050.1 "E319G,G105E,N340K,Q320R,R136C,R96Q,S103N" "0,0,0,0,0,0,0" 64766 8430 dbsnp15072 NP_001129947.1 "I144L,M186L,N97S,R224Q,R224W,R225Q" "0,0,0,0,0,0" 79805 10641 dbsnp15075 NP_036606.2 "Q108E,T187M" "0,0" 7371 11337 dbsnp1508 NP_733840.1 "A19T,A726T,A793E,A843S,E192K,G307R,G307S,G4D,L124P,L193V,P137L,P63S,R125L,R219H,R252W,R26H,R403H,R471W,R547W,R68W,R707H,R743C,S14P,S300G,T459M,T792R,V303M,V351L,Y330D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 2209 dbsnp15081 NP_001229838.1 "K135Q,R148Q,R4Q" "0,0,0" 284654 11633 dbsnp15087 NP_055098.1 "A35T,D44G,E225K,E31K,K1194T,L668P,P192S,P607T,R26H,S490P,S785G,V406I,V677I,Y658N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51430 1270 dbsnp15089 NP_001694.2 "A1411V,A779S,E1371D,G1579S,H693Q,L1354P,L768V,P1378T,P1577L,P287A,P451S,P853L,R1532C,R989W,T1503M,T31A,V1086I,V448M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 576 747 dbsnp15090 NP_060526.2 "P111L,P111S,P112L,Q381H,Q484H,V143M" "0,0,0,0,0,0" 55116 6815 dbsnp15092 NP_001013683.1 "A147V,G271S,N220T,R136Q,R73P,S194F,V47I" "0,0,0,0,0,0,0" 391123 8306 dbsnp15094 NP_653228.1 "L35R,S29A,T95I" "0,0,0" 128229 14329 dbsnp15096 NP_001096631.1 "Q149E,Q337H,R219H,R61H,V207G" "0,0,0,0,0" 400745 8094 dbsnp15097 NP_003774.1 Y123D 0 8707 8122 dbsnp15098 NP_071902.2 "M265T,M299V,Q262H,R295T,R378C,S477I,V99G" "0,0,0,0,0,0,0" 64326 3775 dbsnp15101 NP_689587.1 "A37G,A39V,C105G,D141N,D203H,P134Q" "0,0,0,0,0,0" 127703 12349 dbsnp15106 NP_689586.3 "A223V,C360S,E244A,K288N,S197N,V231M" "0,0,0,0,0,0" 127396 9026 dbsnp15107 NP_848131.1 "G49R,G65C,G71E,P21L,P31A,P39S,R82W,S54C" "0,0,0,0,0,0,0,0" 353137 14422 dbsnp15108 NP_848126.1 "C51Y,H113Q,R83H,S92R,T26I" "0,0,0,0,0" 353132 14422 dbsnp15111 NP_001012988.1 "A23V,D71H,P52L,Q25R,V29I" "0,0,0,0,0" 200159 13983 dbsnp15113;dbsnp15114;dbsnp15115 NP_001186802.1;NP_003770.1;NP_001186803.1 "E103K,R366H,R372H,V54I" "0,0,0,0" 8703 8736 dbsnp15116 NP_001096036.1 "A30V,K61R" "0,0" 654790 14889 dbsnp15118 NP_001004473.1 "G193S,I49T,M118T,M145V,N172S,N42S,S103P,S19P,S269R,T74I,V13I,V14I,Y310C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 391109 10021 dbsnp15120 NP_001153797.1 "A243T,A264S,A43S,F68L,M157K,M59R,N172K,N75S,P22L,P312L,Q165K,Q316H,R143C,R143H,R234H,R261W,R313K,S5T,T48K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128366 10111 dbsnp15122 NP_995320.1 "A406T,P17S,P24S,R164H,R239C,R381C,R70C,S23R,T208I" "0,0,0,0,0,0,0,0,0" 148281 5269 dbsnp15123 NP_036537.1 "C71S,N114S" "0,0" 23463 11206 dbsnp15125 NP_006126.1 "D10N,D6H,D6Y,E12K,K226R,T63M" "0,0,0,0,0,0" 829 11179 dbsnp15126 NP_001004440.1 "D146N,L168F,M1V,P151R,Q42K,R136Q,R98H,T38I" "0,0,0,0,0,0,0,0" 284467 13564 dbsnp15127 NP_001136254.1 "G1318D,G552D,H940L,L236V,N515S,P657L,R410Q,R768H,T417I,T947I,Y285H" "0,0,0,0,0,0,0,0,0,0,0" 260425 857 dbsnp15129 NP_060834.2 "C747R,G35R,R287H" "0,0,0" 54665 3202 dbsnp15130 NP_004839.2 "Q245R,R226C" "0,0" 9473 4659 dbsnp15131 NP_776169.2 "K98R,L32V,S277N,Y347S" "0,0,0,0" 257194 9569 dbsnp15134 NP_689910.2 "D138E,G410E,I247L,I344L,L224Q,R299C,R507Q,V699I" "0,0,0,0,0,0,0,0" 204962 3890 dbsnp15135 NP_000950.1 "I147N,I338V,L218S,M155I,Q8L,T145M,V10A" "0,0,0,0,0,0,0" 5737 9466 dbsnp15137 NP_036434.1 "A1164P,D307N,E1268K,E1290K,G1183V,I1272T,K551R,M566T,P1328A,P456S,Q361R,R1323K,R237S,R350Q,R730L,R9Q,S1116Y,S3F,V1231I,V829I,Y1295C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23266 976 dbsnp15138 NP_694580.1 "K56E,S164C,T47N" "0,0,0" 127428 12800 dbsnp15139;hgmd0613_1710 NP_055628.1 "D188N,D755E,E1063D,E315K,G1030R,G990S,I155L,I425V,M204V,P882L,R534H,R550H,R833K,S48F,S563T,T765I,T915I,V469I,V491F,V598L,V806A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9860 1660 dbsnp15140 NP_006690.1 "A461T,A630T,H417R,I344L,N153K,R106H" "0,0,0,0,0,0" 10905 4555 dbsnp15144 NP_001129136.1 "Q32E,T80P" "0,0" 8934 13382 dbsnp15148 NP_059974.1 "I51K,P262Q,R122C,T267M,V117L" "0,0,0,0,0" 26245 9740 dbsnp15152 NP_005440.1 "A357V,E22K,F3C,P173L,P389T,R83C" "0,0,0,0,0,0" 9214 8809 dbsnp15156 NP_005657.1 "C72Y,D159G,K27E,R132Q,R141S,R69L,T109A,T71M,Y264C" "0,0,0,0,0,0,0,0,0" 3080 5564 dbsnp15159 NP_001162023.1 A93V 0 55706 4328 dbsnp15162 NP_001245240.1 "A200T,A96S,D237N,S155N" "0,0,0,0" 79605 6231 dbsnp15167 NP_001036017.1 "D10A,E44K,F49L,I237S,L85I,N157S,R101W,R149C,R269Q,V146M" "0,0,0,0,0,0,0,0,0,0" 128387 11266 dbsnp15175 NP_001245213.1 "A214V,F177I,G212S,G218D,I28F,P166S,R164H,R226C,S152F,S8T,V198L,Y251H" "0,0,0,0,0,0,0,0,0,0,0,0" 81466 9213 dbsnp15179 NP_002986.1 "D28H,E25G,I18T,K29R,T106S,T37A,V68I,Y17H" "0,0,0,0,0,0,0,0" 6375 14488 dbsnp15186 NP_787048.1 "K163R,P522S,P541S,R154G,R354Q,S514R" "0,0,0,0,0,0" 200081 5904 dbsnp15187 NP_001239031.1 "A309T,A785V,E1484K,N152K,N181D,P1348L,P842H,Q132R,Q454H,R127H,R605H,R773Q,R836H,S106L,S851L,T105M,T1128P,T1308N,T1464M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23046 698 dbsnp1519 NP_001177391.1 "K16E,L86V,R94K" "0,0,0" 643037 14314 dbsnp15193 NP_001094846.2 H132Y 0 440585 14188 dbsnp15194 NP_001161148.1 E56D 0 100128071 14303 dbsnp15196 NP_932076.1 "A169V,K57I,L323M,R298Q" "0,0,0,0" 29922 9080 dbsnp152 NP_057279.2 "A1108V,A23T,A50G,C1137R,C480Y,D1247N,D255G,D971E,E1064V,E1087Q,E1250D,E490D,E622A,E826A,F1549Y,H1101Q,H749L,H908Y,I133V,I1520T,I1749V,I1751V,I732V,I740F,I740V,I831V,K1065R,K1358Q,K138R,K1609E,K1612R,K389N,K516R,K948N,L1202S,L969F,N1179S,N716I,N731D,N830S,N963D,Q144R,Q897H,R1614Q,R1661C,S377T,S77P,V1172F,V1397L,V1755M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9585 548 dbsnp15202 NP_055404.1 "G47S,K126R,R118H,R71H" "0,0,0,0" 30814 14025 dbsnp15205 NP_001675.3 "A666T,E1116K,E661K,F1034L,I706V,K940R,N616H,Q971H,R7C,R7S,R993C,R993G,S1053F,T1051N,T2M,V342A,V46I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 493 1258 dbsnp15207 NP_060320.1 "E22G,G89E,L63I,R33W" "0,0,0,0" 54955 12907 dbsnp15208 NP_004459.2 "A103T,A96V,E3K,G232S,L258V,Q100R,R226H" "0,0,0,0,0,0,0" 2275 11283 dbsnp15209 NP_055868.1 "A319S,P684S" "0,0" 8497 1263 dbsnp15210 NP_060681.2 "G299D,L557F,S346N,V430L" "0,0,0,0" 55225 4291 dbsnp15212 NP_001012425.1 "E71Q,K63M" "0,0" 388649 13362 dbsnp15213 NP_003667.1 "D65N,F236L,N255Y,N267S,V296L" "0,0,0,0,0" 8560 10321 dbsnp15214 NP_000862.1 "S45W,T439M" "0,0" 3362 7775 dbsnp15215 NP_060482.2 "A1355G,A1453D,A2044V,A410P,A969V,D1153N,G259V,G783A,L579V,N305H,P1410A,P1775R,P228S,Q496R,R1946W,R904Q,S1218F,S1809L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55083 374 dbsnp15222 NP_001019832.1 "A393T,D426G,H375R,L432P,M391I,M391R" "0,0,0,0,0,0" 400736 6996 dbsnp15223 NP_001091080.1 "P93S,V43I" "0,0" 148930 14635 dbsnp15225 NP_005259.1 "H105L,R115C,R22C,R32C,R98Q,T193I,V63I,V95M" "0,0,0,0,0,0,0,0" 2709 11427 dbsnp15226 NP_004412.2 "A157T,A178T,A178V,C476S,I295M,L203F,P584L,R229G,R558H,S246F,T431A,T96M" "0,0,0,0,0,0,0,0,0,0,0,0" 1855 4373 dbsnp15229 NP_001073312.1 "A1083V,A20T,A740T,A757T,D638N,G322S,I974M,M123V,N1210K,P706L,R244C,R75Q,S151L,S59L,T164P,T282M,T618I,V265A,V389L,V457I,V537I,V815M,W254G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54897 580 dbsnp15231 NP_060677.2 "D240N,L236M,R151Q,R187Q,R384H,V473I" "0,0,0,0,0,0" 55223 7117 dbsnp15232 NP_060452.3 "A464S,Q37H,R123H,R209H,T288P" "0,0,0,0,0" 55061 6852 dbsnp15233 NP_443175.2 "H416R,N359T,R269H,R303P,R348Q,R362C" "0,0,0,0,0,0" 115572 7727 dbsnp15234 NP_116141.1 "C6S,C6Y,D161N,E503K,G143E,K403R,P292L,P512L,R313C,R72Q,Y370F" "0,0,0,0,0,0,0,0,0,0,0" 84838 5312 dbsnp15235 NP_056106.1 "D338N,D338Y,E584K,I14M,L464P,R235H,V388M" "0,0,0,0,0,0,0" 23341 3346 dbsnp15236 NP_683707.3 "A373V,D65N,F163L,G259R,I659V,P216L,P234A,P276L,S627T,T292I" "0,0,0,0,0,0,0,0,0,0" 114883 3652 dbsnp15244 NP_002470.2 "A181T,E36Q,L50V,R147C,R37Q,V80M" "0,0,0,0,0,0" 4656 12461 dbsnp15247 NP_079483.3 "C537S,D68G,G214R,M268R,N168I,N168S,R137Q,R148Q,R228H,R263W,R345C,R437C,R437H,R530H,S395N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80308 5313 dbsnp15249;hgmd0613_2037 NP_073624.2 "A13T,E257K,E276A,E8A,I197V" "1,1,0,0,0" 64802 11301 dbsnp15250 NP_062551.1 "A222T,G41R,H61Y,P13R,P39T,R175Q,T320I,T320S" "0,0,0,0,0,0,0,0" 56256 9526 dbsnp15251 NP_056529.1 "A62T,G93S,R72Q,V4I" "0,0,0,0" 50486 14611 dbsnp15252 NP_940954.1 "A127G,D143N,R161Q,S183F" "0,0,0,0" 375061 13300 dbsnp15259 NP_001229679.1 "A155V,I206T,M43I,Y201H" "0,0,0,0" 100129924 12017 dbsnp15260 NP_001181915.1 "A469T,D413N,N266S,P516T,R316Q,S241N,Y246C" "0,0,0,0,0,0,0" 388630 6372 dbsnp15262 NP_060012.3 "A183P,A520T,I158T,L590S,R24Q,R73Q,S165T,V126I" "0,0,0,0,0,0,0,0" 57645 5037 dbsnp15265 NP_955376.1 "A66V,Q132H,T32P" "0,0,0" 375035 13730 dbsnp15266 NP_055671.2 "A523T,Q501H,T498M" "0,0,0" 9909 834 dbsnp15267 NP_109588.2 "C26S,H7Y,Q33E,T5S" "0,0,0,0" 4184 14455 dbsnp15268 NP_001136198.1 "A32G,K38E" "0,0" 127687 14538 dbsnp15270 NP_001025056.1 "A148T,A161T,L46Q,R196H,R66H" "0,0,0,0,0" 80772 12660 dbsnp15271;hgmd0613_2459 NP_932342.1 "L106F,N118S" "0,0" 116228 14430 dbsnp15272 NP_003548.1 "G7A,I319T,I515V,T535P" "0,0,0,0" 8394 4394 dbsnp15276;hgmd0613_1514 NP_006487.1 "G134S,I264V,R90Q,T170I" "0,0,0,0" 2773 9547 dbsnp15277 NP_055252.2 "G277A,I254M,R206Q,R65H" "0,0,0,0" 27173 10304 dbsnp15278 NP_005083.2 "S105F,S105T,V180F" "0,0,0" 8995 12986 dbsnp15279 NP_079334.3 "A348T,G415A,R161H,R342Q,R345H" "0,0,0,0,0" 80128 3530 dbsnp15283 NP_542155.1 R16Q 0 5778 7309 dbsnp15284;dbsnp15285 NP_057186.1;NP_001020111.1 "A138V,A363V,E173K,E428D,G285R,Q71E,Q88R,R227Q,T30A,T407N,V434I" "0,0,0,0,0,0,0,0,0,0,0" 51127 7068 dbsnp15287 NP_009138.1 "P168L,P43H,S138P,S249P,S304L,S446P,S446T,V351I,V50I" "0,0,0,0,0,0,0,0,0" 11221 6970 dbsnp15288 NP_997304.3 "D330N,R207Q,V259I,V671I" "0,0,0,0" 353238 4131 dbsnp15289 NP_443109.2 "A296V,Q221P,R282H,V185I" "0,0,0,0" 112950 10844 dbsnp15290 NP_078916.3 "C234W,G247R,P246S" "0,0,0" 79693 11302 dbsnp15291 NP_076412.3 "A547P,L390I,L677M,R473G" "0,0,0,0" 65979 3954 dbsnp15293 NP_001188474.1 "A557V,A668V,G714V,K170R,P268L,R961Q,S26G,S94W,Y336C" "0,0,0,0,0,0,0,0,0" 64783 2199 dbsnp15295 NP_077295.1 "E136A,K142R,P61R,R243Q,R243W,R254H" "0,0,0,0,0,0" 79169 11634 dbsnp15297 NP_005979.1 "T20A,T20K" "0,0" 6700 14865 dbsnp15298 NP_001013633.1 "A42T,M60L,Q207R,Q78R,R32Q" "0,0,0,0,0" 541468 12153 dbsnp15299 NP_997231.1 "C254Y,I215M,R176Q,R233W,R298W" "0,0,0,0,0" 284723 10788 dbsnp15302 NP_061899.2 "A221T,F30L,G20D" "0,0,0" 54499 12154 dbsnp15304 NP_001010980.1 "Q98H,T101M,V33A,V36I" "0,0,0,0" 400746 14625 dbsnp15305 NP_001001998.1 "A39V,C852Y,D819N,E74K,N301S,N881S,P808S,P847L,Q259L,Q574K,R158H,R427H,R702H,S13L,T715A,V767I,V862M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5394 2695 dbsnp15307 NP_001035799.1 "E99G,N213S,R148C,R65C" "0,0,0,0" 284612 11444 dbsnp15308 NP_001186726.1 W45R 0 5778 7309 dbsnp15309 NP_065734.5 "A280V,I299L,I299V,K227N,L90V,R285H,R289H,T328I,V31M" "0,0,0,0,0,0,0,0,0" 140 9744 dbsnp1531 NP_001230688.1 "T7S,Y10S" "0,0" 9099 5073 dbsnp15310 NP_734464.1 "A362P,A75V,C150S,D321E,D330N,H359Y,R260Q,T305M" "0,0,0,0,0,0,0,0" 163702 6316 dbsnp15316 NP_848521.1 "A38S,C16G,N71K,P22T,R86C,R86H" "0,0,0,0,0,0" 353144 14422 dbsnp15318 NP_001004136.1 "G234D,G254R,L104F,L262Q,L44V,M46I,M70V,Q313P,R235Q,R322G,S34F,S65I,T107N,V249M,V37L,W150C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401992 9740 dbsnp15319 NP_060768.8 "C20Y,L235V,P49T,R19H,R442C,S369R,V141I" "0,0,0,0,0,0,0" 55283 5402 dbsnp15322 NP_036375.1 "M177I,P35R,V8I" "0,0,0" 23443 8667 dbsnp15323 NP_001014450.1 "A20T,A20V,C54Y,P61T" "0,0,0,0" 6705 14865 dbsnp15324 NP_001004698.1 "A183T,C72Y,D4N,D70N,G225S,I158N,M106I,P287S,R168W,R220H,R258H,T316M,V113F,V113I,W312C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 441932 10403 dbsnp15330 NP_001096133.1 "D623E,E638Q,Q615L,Q615P,T239A,Y618F" "0,0,0,0,0,0" - 98 dbsnp15331 NP_001073939.1 "F24V,H451Y" "0,0" 90874 5919 dbsnp15332 NP_001243058.1 "G131R,H147Y" "0,0" 127829 13244 dbsnp15334 NP_689580.2 "A190T,F222C,R202Q,R256C,R330W,T338A,W271R" "0,0,0,0,0,0,0" 126868 9372 dbsnp15335 NP_078985.3 "A132V,G119S,V116M" "0,0,0" 79762 14059 dbsnp15336 NP_775106.2 "E454A,G60C,V57I" "0,0,0" 286826 5724 dbsnp15337 NP_001005484.1 "F113C,G136S,M129T,T141A" "0,0,0,0" 79501 9711 dbsnp15338;hgmd0613_2411 NP_787072.2 "A451V,A672G,D607H,E319Q,E324D,K307E,V325I" "0,0,0,0,0,0,0" 149371 3834 dbsnp15339 NP_004664.1 "F4S,I490T,P214R,P253S,P267L,R398C,Y172H" "0,0,0,0,0,0,0" 9068 6802 dbsnp15340 NP_006234.1 P55A 0 5525 5119 dbsnp15341;dbsnp15342;dbsnp15343 NP_127491.1;NP_001034800.1;NP_001034801.1 "R137S,R28H" "0,0" 9191 10454 dbsnp15346 NP_001230693.1 S5R 0 9910 1823 dbsnp15349 NP_001018494.1 "A46V,G102S,I952V,L1099H,M340L,N617S,N883S,S487T" "0,0,0,0,0,0,0,0" 9698 1459 dbsnp15351 NP_079128.2 "I554V,Y339S" "0,0" 192669 2824 dbsnp15355 NP_001172087.1 "H58R,R36C,S61R" "0,0,0" 11009 12821 dbsnp15356 NP_149056.1 "D3G,E339G,G210A,G210V,P232S,P265S,P272L,S261I,S261T,S329L,V88A,Y41H" "0,0,0,0,0,0,0,0,0,0,0,0" 63948 9868 dbsnp15359 NP_963857.3 "P83Q,T118I,Y205F" "0,0,0" 9103 10338 dbsnp15361 NP_001010978.2 "D179N,E108K,G11V,P6A,R169C,S42F" "0,0,0,0,0,0" 388633 12866 dbsnp15364 NP_001019380.2 "C50R,C67Y,S60A" "0,0,0" 6704 14865 dbsnp15366 NP_003434.2 "K112M,T106M,V89M" "0,0,0" 7709 3191 dbsnp15367 NP_001229813.1 "A306T,H242D,K153E,P49T,R17Q,R17W,S23C" "0,0,0,0,0,0,0" 7709 3191 dbsnp15368 NP_001129980.1 "L160V,R76Q,S134R" "0,0,0" 284546 12987 dbsnp15372 NP_001127872.1 "A77D,I216N,R113W,R180K" "0,0,0,0" 284613 11899 dbsnp15373 NP_002240.3 "E381Q,F315L,F466C,I714T,L136S,P47S" "0,0,0,0,0,0" 3782 3653 dbsnp15377 NP_689714.2 "E42K,H202R,H488Y,K26R,M385T,Q420H,R211Q,R267S,R469K,R487L,S143F,T171I" "0,0,0,0,0,0,0,0,0,0,0,0" 149628 3317 dbsnp15378 NP_945148.1 K449E 0 149628 3317 dbsnp15381 NP_002785.1 "A123V,A130V,S179G,S201Y" "0,0,0,0" 5690 12950 dbsnp15384 NP_149990.1 "C339Y,M388V,N128K,R213C,R264H,R264L,S85N,V9M" "0,0,0,0,0,0,0,0" 93474 3684 dbsnp15386 NP_078855.2 D61N 0 79630 14232 dbsnp15387 NP_001160060.1 S404A 0 8891 7543 dbsnp15389;dbsnp15390 NP_056230.1;NP_001137146.1 "D18N,K19R" "0,0" 25874 14304 dbsnp15391 NP_060682.2 "A570T,N20S,Q469E,R215H,S265L,T529M" "0,0,0,0,0,0" 55740 5260 dbsnp15393 NP_848645.3 "P301L,R93S" "0,0" 339512 10819 dbsnp15394 NP_001130015.1 "P98L,Q150K,R84H" "0,0,0" 388695 12399 dbsnp15396 NP_057121.2 "H136R,I244T,K10T,K38R,R72W,V165I" "0,0,0,0,0,0" 51118 11851 dbsnp15398 NP_848643.2 "G210S,L202W,P191H,R309Q,R363C,S340N,T317M,V305M,Y132C" "0,0,0,0,0,0,0,0,0" 339488 7399 dbsnp15399 NP_001004694.2 "A57T,G45E,H58Y,L72P,Q24R,R6W,S61T,V96I" "0,0,0,0,0,0,0,0" 343563 9213 dbsnp154 NP_001025186.1 "G455D,L376V,P10L,P487L,P7Q,R101H,R179C,R197H,R387H,S5L,T405I,W294C" "0,0,0,0,0,0,0,0,0,0,0,0" 94233 6861 dbsnp15400 NP_001034241.1 "A34V,D33G" "0,0" 431704 12773 dbsnp15401 NP_079089.2 "A311V,D195N,E289K,E73D,G577D,H486Q,I443M,Q28E" "0,0,0,0,0,0,0,0" 79871 5004 dbsnp15403 NP_006760.1 S17C 0 8543 13630 dbsnp15405 NP_001193795.1 Q349L 0 3570 7234 dbsnp15406 NP_001138428.1 "H82R,K37N,S50N" "0,0,0" 284485 14744 dbsnp15407 NP_872604.1 "A53E,P72S,R150C,R204C,R247L,R247Q,T274M" "0,0,0,0,0,0,0" 83593 8218 dbsnp15409 NP_001182665.1 "A149V,A177S,P103S" "0,0,0" 127281 11997 dbsnp15412 NP_001001827.1 "A317V,C202F,G323D,L222F,L261Q,S65I,T240M,V204L" "0,0,0,0,0,0,0,0" 403244 9740 dbsnp15414;hgmd0613_1900 NP_061183.2 "H431Q,T483M" "0,0" 55532 6923 dbsnp15415 NP_001008740.1 "G124D,L143V,Q150K,S28C,V85I" "0,0,0,0,0" 127391 13334 dbsnp15416 NP_002223.3 "D2E,E98D,R214C" "0,0,0" 3738 4561 dbsnp15417 NP_061991.3 "T81A,V98F" "0,0" 56063 14094 dbsnp15418 NP_998816.1 "D17N,E271K,G322E,K359N,M290V,R145C,R414Q,S3T,V32I,Y11C" "0,0,0,0,0,0,0,0,0,0" 29957 6612 dbsnp15422 NP_036394.1 "A66V,F346V,I160V,I45V,Q32K,R270Q,R333Q,V143I" "0,0,0,0,0,0,0,0" 9653 9527 dbsnp15429;hgmd0613_1330 NP_005207.2 "A276V,D133N,F224V,P226L,R315Q,R65W,T216M,T400I,V187I" "0,0,0,0,0,0,0,0,0" 1650 7463 dbsnp15430;dbsnp15431 NP_598003.2;NP_001138356.1 "G169D,G262D,H189R,P13L" "0,0,0,0" 148867 9081 dbsnp15437;dbsnp15438 NP_002394.1;NP_059453.1 "Q41R,V131I" "0,0" 4237 13318 dbsnp15447;dbsnp15448;dbsnp15449 NP_001092191.1;NP_001092192.1;NP_004476.1 "M29T,R50Q" "0,0" 2786 14854 dbsnp15455 NP_055679.1 "D26N,I363T,S364C,S364F,V101M" "0,0,0,0,0" 9917 8411 dbsnp15457 NP_115915.1 "I275V,S366A" "0,0" 84618 9245 dbsnp15458 NP_001124313.1 "A361T,E357D,G213A,G31D,K221R,M13V,R184Q,V214I" "0,0,0,0,0,0,0,0" 8634 9009 dbsnp1546 NP_001073027.1 "D669Y,N683K" "0,0" 221092 3642 dbsnp15461;dbsnp15462 NP_001186189.1;NP_659471.1 "A64S,C47R,D116E,G97D,I297V,S168G" "0,0,0,0,0,0" 163590 7212 dbsnp15464 NP_060672.2 "I275F,S326T" "0,0" 55219 4441 dbsnp15467 NP_060673.1 "D8G,H223R,P54L" "0,0,0" 55220 9670 dbsnp15468 NP_055673.2 "A639V,I210V,R95Q,T39M,V275M,V656M" "0,0,0,0,0,0" 9911 3990 dbsnp15471 NP_689589.1 "I271M,K40T,P88S,R146Q,S159N,S193L" "0,0,0,0,0,0" 127733 11284 dbsnp15472 NP_055688.1 "I265V,K200E,P9L" "0,0,0" 9926 9205 dbsnp15473 NP_001004319.1 "C137G,E33K,E52K,I58T,R46C" "0,0,0,0,0" 391104 12671 dbsnp15474 NP_060357.1 "G115R,M63V" "0,0" 54987 13731 dbsnp15479;dbsnp15480 NP_116241.2;NP_835739.1 "D442Y,K326Q,K371R,K444R,R80H" "0,0,0,0,0" 84938 7447 dbsnp15481 NP_001013003.1 "P35R,S41N" "0,0" 388753 14335 dbsnp15482 NP_002913.3 "R154H,R156Q,S126T" "0,0,0" 5996 12773 dbsnp15483;dbsnp15484 NP_149438.2;NP_001014765.1 "A165T,A186V,E144K,E59K,G189A,G189E,L82V,P253L,R111Q" "0,0,0,0,0,0,0,0,0" 93611 11025 dbsnp15486 NP_001182500.1 "P40L,P83L,Q6P" "0,0,0" 574414 14456 dbsnp15487 NP_699172.2 "D675V,Q62P" "0,0" 127544 2979 dbsnp15489 NP_057371.2 "A470T,D4N,I516L,K517R" "0,0,0,0" 50809 5801 dbsnp15490 NP_036465.2 A78V 0 26292 14612 dbsnp15491;dbsnp15492 NP_064633.1;NP_001012329.1 "G8R,Q62H" "0,0" 56998 14820 dbsnp15495 NP_005586.1 "K480R,P494S,Y178C" "0,0,0" 4774 5786 dbsnp15496 NP_002915.3 "A146T,A87T,D459N,F347L,K38R" "0,0,0,0,0" 6000 6742 dbsnp15498 NP_940951.1 "E115Q,I113L,I406V,L546F,L564I,P56S,P70L,R222H,S289P,V339I" "0,0,0,0,0,0,0,0,0,0" 374986 4776 dbsnp15499 NP_001019769.1 "G171V,N10S" "0,0" 390992 13251 dbsnp15500 NP_002014.2 "A267P,A359T,G123V,G147D,I374M,N326H,P24A,P68L,Q2R,R265W,T64I,Y42S" "0,0,0,0,0,0,0,0,0,0,0,0" 2331 9082 dbsnp15501 NP_828847.1 "A126V,H415Q,I73T,Q243K,R138H,R252P,S220R,S297G,T278P" "0,0,0,0,0,0,0,0,0" 260293 6493 dbsnp15503 NP_877436.1 G123E 0 284467 13564 dbsnp15504 NP_001004342.3 "M679V,R53Q" "0,0" 440730 3334 dbsnp15505 NP_057267.2 "E174K,E224D,N106S,R107H,R64Q" "0,0,0,0,0" 51154 12155 dbsnp15506 NP_065750.1 "A410G,A490V,I126V,P226A" "0,0,0,0" 57459 5236 dbsnp15507 NP_848549.3 "A211G,L246P,R260W" "0,0,0" 128338 11572 dbsnp15508;hgmd0613_1074 NP_003484.1 "A8T,M72T,R54H,R70P" "0,0,0,0" 8290 14150 dbsnp15509;dbsnp15510 NP_078816.2;NP_663781.1 "I133M,V13I,V44M" "0,0,0" 79590 12617 dbsnp15514 NP_758872.1 "A776G,G826V,Q923P,R715C,R759Q,S819T,V790M" "0,0,0,0,0,0,0" 3756 2149 dbsnp15516 NP_055386.1 "A188V,G102D,G206C,I195M,M313I,R68H,S163L,V128I,W177C" "0,0,0,0,0,0,0,0,0" 26508 10200 dbsnp15519 NP_005611.1 "L67M,R104G,R104W,S5F" "0,0,0,0" 6282 14588 dbsnp15521 NP_001138984.1 V14M 0 4774 5786 dbsnp15523 NP_001191198.1 A329V 0 3737 4561 dbsnp15525 NP_001007545.1 "A47T,L95V,V117I" "0,0,0" 440712 13517 dbsnp15526 NP_079426.2 "F433C,H345R,K606R,L188I,P387L,S258L,T189K,T359M,V485I" "0,0,0,0,0,0,0,0,0" 80222 3199 dbsnp15531 NP_001036818.1 R39K 0 7170 11184 dbsnp15538 NP_001014313.1 "P30L,S72N,T20M" "0,0,0" 6706 14865 dbsnp15539 NP_660321.1 "N73H,N91D" "0,0" 148823 14172 dbsnp15540;dbsnp15541 NP_001035122.1;NP_000551.1 "G2S,P158T,R165Q" "0,0,0" 963 12557 dbsnp15542 NP_001182667.1 P196T 0 127281 11997 dbsnp15545 NP_058642.1 "I145V,I40T,R101W,S203L,S275N,T106A" "0,0,0,0,0,0" 50848 10900 dbsnp15549 NP_005289.2 "D343Y,F59S,G321A,S159L" "0,0,0,0" 2848 9402 dbsnp1555 NP_056346.3 "A1217G,A1777E,C828S,C834Y,D1346A,D174N,D1868N,E1782K,F1050L,G1831W,H240D,L320V,M514K,N1232S,N1500S,P1048A,P1344L,P1907L,P235L,P551L,P773R,Q1224R,Q1247H,Q1694H,R1219Q,R1248C,R1249Q,R1377Q,R15H,R1657Q,R1832G,R1901C,R213H,R278W,R390K,R997Q,S1171T,S1366L,S1663N,S1885P,S787F,S787T,T1685A,T459A,V472I,V782I,V887M,Y1297C,Y1802H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26005 284 dbsnp15551 NP_061125.1 "E58K,R26W,R4W" "0,0,0" 55891 14911 dbsnp15553;dbsnp15554;dbsnp15555 NP_061973.1;NP_001029196.1;NP_001029195.1 "G406D,H180Q,M363T,S353N,V137L" "0,0,0,0,0" 55929 7271 dbsnp15556 NP_149093.1 "A34T,A361T,A459V,A528T,G254V,H445Y,L113V,L492V,P154L,R415Q,R86W,V296M,V346G,V377M,V470I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85414 5802 dbsnp15562 NP_067017.2 "P432T,R164L" "0,0" 7779 6537 dbsnp15563 NP_115659.1 "A253T,A263T,D361N,G323C,H387L,T300M" "0,0,0,0,0,0" 84243 6870 dbsnp15565 NP_653298.1 "H381P,P302H,S14F,S85L,S97L,T190I" "0,0,0,0,0,0" 148523 8899 dbsnp15566 NP_055764.2 "A212T,L86V" "0,0" 22889 4986 dbsnp15567 NP_037460.2 "A314G,S176R,V65I" "0,0,0" 29920 10404 dbsnp15568 NP_005675.3 "I167M,R240Q,R355W" "0,0,0" 9293 9403 dbsnp15569 NP_116270.1 V82I 0 84967 14369 dbsnp1557 NP_001159694.1 W26R 0 57571 2347 dbsnp15570 NP_003180.1 "R253Q,Y174C" "0,0" 6886 10129 dbsnp15571 NP_001104251.1 "I283V,S353L,T278M,V362I" "0,0,0,0" 728661 8495 dbsnp15572 NP_001129475.1 "I330T,V11A" "0,0" 100191040 9596 dbsnp15573 NP_149079.2 "N183S,N259S,S161L,S694A,T119A" "0,0,0,0,0" 85369 2993 dbsnp15574 NP_079349.2 "A118S,D143H,M148T,M199V" "0,0,0,0" 80143 12726 dbsnp15578;hgmd0613_2122 NP_110396.1 "A212P,E156A,P113L,P146T,S61L,T17M,V200M,V85I" "0,0,0,0,0,1,0,0" 80896 10405 dbsnp1558 NP_055880.2 "A1761T,D15H,D440N,E1287G,E71Q,F131Y,F242L,G538R,G54R,H1227Y,H1686N,H521R,H523R,I397N,I610T,K1985E,L1090V,L1277F,L1519R,M1147T,N1573I,N1662D,P112L,P114A,P1769A,P198L,P399S,P784L,Q654R,R118Q,R1832G,R1847G,R239T,R921G,S1233G,S134T,S1589Y,S1831N,S417L,S738C,T1134A,T1636S,T1738I,T1872A,T670A,V1507I,V1687I,V1706I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23086 431 dbsnp15581 NP_066188.1 "D221E,F492S,G286R,G296R,G319R,G475D,H230R,I382M,I406T,M289I,P243H,Q419H,Q56R,R176H,R25W,R358C,R358H,V309A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 280 6448 dbsnp15582 NP_848125.1 "G59C,G59S,G59V,K32E,R74C,R79H" "0,0,0,0,0,0" 353131 14422 dbsnp15583 NP_715637.1 "N110S,R134H,R3H,R76Q" "0,0,0,0" 252995 13868 dbsnp15586 NP_001006606.2 "E324D,K68E,R255S" "0,0,0" 388650 7989 dbsnp1559 NP_001231611.1 "F152S,G10E,H154L,H154R,I349T,K300M,M73V,R357Q,R392K,R5T,S149T" "0,0,0,0,0,0,0,0,0,0,0" 25833 7804 dbsnp15593;dbsnp15594 NP_001186652.1;NP_001869.1 "D117N,K31N" "0,0" 1382 14126 dbsnp15595 NP_001013652.1 "A176D,A387P,H172D,I407L,R152C,R216Q,S78C" "0,0,0,0,0,0,0" 343066 8448 dbsnp15596 NP_660215.1 "I432M,R283Q,S461F" "0,0,0" 81559 7247 dbsnp15597 NP_001138926.1 H174D 0 3925 12623 dbsnp15599 NP_003263.1 "D351N,G373V,K264R,L152P,L209F,N317H,V203M" "0,0,0,0,0,0,0" 7107 8611 dbsnp15600 XP_001133559.1 "A169P,I155V,K11R,P159S,T147S" "0,0,0,0,0" - 13565 dbsnp15604 NP_060523.2 "I287V,Q370H,R186C,R334Q,R373H,T142M,V201M" "0,0,0,0,0,0,0" 55113 8696 dbsnp15606 NP_055838.2 "G488A,G497S,I6V,L297M,R35Q,T616R" "0,0,0,0,0,0" 23038 4314 dbsnp15608 NP_938073.1 "G64D,L300M,N123S,N626S,R276W,R519L,T640P,V420L,V560M" "0,0,0,0,0,0,0,0,0" 339451 4678 dbsnp15612 NP_001119712.1 A8T 0 7161 4268 dbsnp15622 NP_778225.1 A10V 0 128312 14189 dbsnp15625 NP_001171692.1 "M1I,N13H" "0,0" 127933 8173 dbsnp15627 NP_950252.1 "P392Q,R6S,S163G" "0,0,0" 339479 3331 dbsnp15628 NP_006533.1 L41F 0 10638 14903 dbsnp15629 NP_001182666.1 "P166L,R165S" "0,0" 127281 11997 dbsnp15630 NP_877429.2 "R108Q,V110G,V236M,V99M" "0,0,0,0" 127262 11445 dbsnp15631;dbsnp15632 NP_001120822.1;NP_060108.2 "A177T,A190T,R124H,R74C" "0,0,0,0" 54797 12801 dbsnp15635;dbsnp15637;dbsnp15638 NP_000849.1;NP_001152863.1;NP_001229768.1 A179T 0 2987 12109 dbsnp15639 NP_036245.1 "G19C,G83S,H21P,L14M,R272C" "0,0,0,0,0" 23632 9975 dbsnp1564 NP_849195.2 "E25D,G208C,M703I,N702D,Q500K,T476I,T587M" "0,0,0,0,0,0,0" 266743 3198 dbsnp15645 NP_005810.1 "D104E,L124M,R189H,T211A" "0,0,0,0" 10228 11811 dbsnp15646 NP_003422.2 "A212T,V41M" "0,0" 7678 4664 dbsnp15652 NP_061333.2 "R125W,R201L,W203C" "0,0,0" 55974 12517 dbsnp15656 NP_001122072.1 "M1T,T69N" "0,0" 448835 14825 dbsnp15658 NP_005057.1 T652A 0 6421 4018 dbsnp15659 NP_006793.1 "K311N,N73S" "0,0" 10946 6648 dbsnp15660 NP_878258.1 "D200G,G119E,M144T,P246L,R135Q,V232I" "0,0,0,0,0,0" 9906 8495 dbsnp15662 NP_055666.2 "A366V,D580N,R252S,R394C,V484M" "0,0,0,0,0" 9903 5176 dbsnp15663 NP_060648.2 "K268R,K98R" "0,0" 55204 10919 dbsnp15664 NP_115911.1 "P317T,T156R,V352M" "0,0,0" 84614 6607 dbsnp15666 NP_001035285.1 "A66S,H44R,P111L,P111Q" "0,0,0,0" 57085 13820 dbsnp1567 NP_001140200.1 "F249Y,G253A" "0,0" 117245 11292 dbsnp15670 NP_001004697.1 "A57T,A76V,G45E,H58Y,I50V,K13R,K41M,L72P,M19T,R24Q,R6W,S61T" "0,0,0,0,0,0,0,0,0,0,0,0" 401993 9213 dbsnp15671 NP_060620.2 "F353L,G65S,H59R,P416L,T443M,T484A,V414I" "0,0,0,0,0,0,0" 55182 5609 dbsnp15672 NP_957715.1 M213I 0 10352 9424 dbsnp15673 NP_061329.3 "H46R,M40V" "0,0" 55970 14854 dbsnp15676 NP_863655.1 "A346V,D18Y" "0,0" 11332 8983 dbsnp15679 NP_848522.1 "G43V,G81S,R64W,S68P" "0,0,0,0" 353145 14422 dbsnp1568 NP_473449.1 "A258V,A30S,A45G,A93P,D270H,E163Q,Q214R,R184C,S266T,S55F,T203K,T203M,V224M,V69G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117245 11292 dbsnp15680 NP_056455.3 V86A 0 26135 8431 dbsnp15684 NP_006504.2 "G387E,K486Q,K99E,P141S,V187M" "0,0,0,0,0" 6301 6416 dbsnp15685 NP_001239335.1 "A13D,E305K,G103R,G110V,G112R,G329R,P224S,R236C" "0,0,0,0,0,0,0,0" 51043 5519 dbsnp15687 NP_055227.1 "E172K,V13L,V15L,V215L" "0,0,0,0" 27101 12375 dbsnp15688 NP_689708.1 H49R 0 149111 13732 dbsnp15690 NP_001181936.1 G304E 0 10450 10568 dbsnp15691 NP_036524.1 "A111T,G79E,I201V,N147S,P30T,R195Q,R228H,Y90C" "0,0,0,0,0,0,0,0" 553115 11207 dbsnp15692 NP_001008220.1 "A322T,A333T,F350Y,L328V" "0,0,0,0" 278 6448 dbsnp15693 NP_001155005.1 P225L 0 23029 7954 dbsnp15694 NP_055829.2 "G5A,K428E,P73L,T412M" "0,0,0,0" 23029 7954 dbsnp15696 NP_008982.1 "P177S,P98R,R275W" "0,0,0" 11124 4593 dbsnp15697 NP_076971.1 P50A 0 79033 9976 dbsnp15698 NP_061855.1 "A2S,E31D,H153R,I265V,I30T,M244T,T151M,T215I" "0,0,0,0,0,0,0,0" 54432 10741 dbsnp157 NP_001091971.1 "A145G,A528T,A606V,A852T,A879P,C436Y,I484V,N1225S,N252S,P459L,P579H,P843T,Q634R,R403Q,R46C,R508H,R773H,S1179N,S16L,S767G,S865P,T1111M,T179M,V319M,V602M,V857M,V986L,Y101C,Y947C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 456 dbsnp15701 NP_001008219.1 "A322T,F350Y" "0,0" 277 6448 dbsnp15712 NP_001010857.1 "M1V,Q64K" "0,0" 149018 14686 dbsnp15713 NP_060441.2 "H125L,I87V,R144S" "0,0,0" 55052 13941 dbsnp1571;hgmd0613_213 NP_000251.3 "A1040V,C1201S,D1971H,E602K,G434S,I1367T,K2005E,K502N,L1122I,L1954I,L347I,M305T,P1556L,P364A,Q1642R,R623C,R707C,S1666C,T1566M,V1956I,V679A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 4647 332 dbsnp15721 NP_006262.1 T7S 0 6271 14661 dbsnp15726 NP_075385.1 "A156T,G112A,G112D,P171L,P86L" "0,0,0,0,0" 65108 13086 dbsnp15733 NP_065723.1 "I88T,R102Q,V34M" "0,0,0" 57402 14598 dbsnp15734 NP_001171810.1 S269N 0 8832 9799 dbsnp15735 NP_003519.1 P4Q 0 8349 14189 dbsnp15737 NP_057589.2 "M25V,N11S" "0,0" 51538 12110 dbsnp15739 NP_001010883.2 "N25S,Q213H,R116H" "0,0,0" 284611 9432 dbsnp15740 NP_075391.3 S458C 0 65123 1932 dbsnp15743 NP_057160.2 "A180V,R190C" "0,0" 51029 13108 dbsnp15744 NP_065181.1 "A253T,A258V,A7T,A95T,I231V,R133H" "0,0,0,0,0,0" 57185 8477 dbsnp15745 NP_001017986.1 "A143V,C168Y,K274Q,L105Q,M171I,R139Q,R273L,R273Q,S178T" "0,0,0,0,0,0,0,0,0" 2210 9109 dbsnp15746 NP_001231839.1 P222S 0 2210 9109 dbsnp15748 NP_689478.1 A7T 0 91408 13773 dbsnp15751 NP_001157864.1 "G464D,I107V,I79V" "0,0,0" 22823 5230 dbsnp15754 NP_002575.1 "A235T,G459S,M508I,M508T,P112L,P398L" "0,0,0,0,0,0" 5081 6317 dbsnp15756 NP_001668.1 P133L 0 481 10806 dbsnp15757 NP_001129950.1 "E188D,E53K" "0,0" 81611 11529 dbsnp15760 NP_001230420.1 G394W 0 9869 1180 dbsnp15761 NP_001013647.2 "L19P,R78Q,R84C" "0,0,0" 257177 13425 dbsnp15762 NP_001166119.1 P248S 0 11189 6904 dbsnp15766 NP_115736.1 "G13S,P31S,R202Q" "0,0,0" 84320 11244 dbsnp15767 NP_002862.2 "G57S,S8R" "0,0" 5877 14370 dbsnp15769 NP_005218.1 "H60Y,L197R,P117T,V45L" "0,0,0,0" 1945 12823 dbsnp15771;dbsnp15772 NP_001129976.1;NP_796376.2 "V160I,V328M" "0,0" 127833 8113 dbsnp15773 NP_055664.3 "G108D,R232S,S127C" "0,0,0" 9900 3685 dbsnp15774 NP_005636.1 F43Y 0 6884 14347 dbsnp15775 NP_006809.1 I49F 0 10962 14755 dbsnp15780 NP_001018063.1 R461H 0 5208 6310 dbsnp15781 NP_001191017.1 "L17F,Q6K" "0,0" 100532736 12619 dbsnp15782;dbsnp15783 NP_001165339.1;NP_001003682.1 "C278S,R207C,R306W" "0,0,0" 399474 10723 dbsnp15784 NP_078871.1 "H110Y,K151I" "0,0" 79647 12908 dbsnp15785 NP_001012277.1 "K438N,L312V,L326R,L410M,T332N,V401I" "0,0,0,0,0,0" 441871 6483 dbsnp15788 NP_001139108.1 R61H 0 339541 7776 dbsnp15789 NP_114142.3 V77I 0 83873 7582 dbsnp15790 NP_001093260.2 "D306E,G393A,K292R,R333H,S304F,S427L,T331A,W315R" "0,0,0,0,0,0,0,0" 645414 6996 dbsnp15791 NP_001128726.1 R483H 0 5081 6317 dbsnp15793 NP_060316.1 "M26T,Y96F" "0,0" 54952 11164 dbsnp15796 NP_073730.3 "C91Y,R174H,R96H,T185M,V179G" "0,0,0,0,0" 64600 12727 dbsnp15798 NP_055239.1 "D51G,D51N,G70S,P155L,Q162P,V160I" "0,0,0,0,0,0" 27129 13549 dbsnp15804 NP_001010889.1 "I363V,K440N,M120V,N131I,Q144R,Q145H,S391C" "0,0,0,0,0,0,0" 440561 5743 dbsnp15805 NP_001019770.1 K35R 0 440689 14189 dbsnp15807 NP_037518.3 V39M 0 29957 6612 dbsnp15808 NP_003842.1 "E119G,N216I" "0,0" 8804 12539 dbsnp15809 NP_060089.1 "D60E,I360T,N342H,N342T,T83A" "0,0,0,0,0" 55599 6373 dbsnp15810 NP_945120.1 "E53K,P103L,S225Y" "0,0,0" 55924 10942 dbsnp15812 NP_776253.3 "G29R,V47I,Y288C" "0,0,0" 254428 5518 dbsnp15813 NP_001157945.1 "H115R,T223A" "0,0" 54874 4950 dbsnp15816;dbsnp15817;dbsnp15818 NP_001005353.1;NP_982289.1;NP_037542.1 "R71H,V206I,V206L" "0,0,0" 205 12405 dbsnp15820 NP_848520.1 "G52S,R67W" "0,0" 353143 14422 dbsnp15821 NP_001191114.1 F459L 0 7161 4268 dbsnp15830 NP_068589.1 "P96L,V139L" "0,0" 60484 9914 dbsnp15831 NP_932343.1 "P174L,T67A" "0,0" 148423 13335 dbsnp15832 NP_001087194.1 A398T 0 92312 6318 dbsnp15833 NP_060361.4 "E29K,K134R,P106L,P49S,R100P" "0,0,0,0,0" 54991 13021 dbsnp15835 NP_001010861.1 "N240S,P55L" "0,0" 163404 10286 dbsnp15838 NP_001180461.1 "K101R,M153L,M153T,S131T" "0,0,0,0" 115273 12580 dbsnp15839 NP_001013654.1 T214M 0 343521 12518 dbsnp1584 NP_001004752.1 "A251V,D294Y,F66S,H225R,H225Y,H58R,I94V,K312E,M257K,P32R,R195Q,R67M,S226F,T13A,T76I,V156I,V46M,Y282H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256892 9565 dbsnp15843;dbsnp15844 NP_001128690.1;NP_005635.1 T145S 0 6883 13706 dbsnp15846 NP_036448.1 A61S 0 23633 6005 dbsnp15847 NP_056264.1 "R116C,T108A,Y101C" "0,0,0" 25912 11852 dbsnp15850 NP_001193668.1 H14L 0 23421 12618 dbsnp15852 NP_722561.1 "D404E,G258D,G497D,R502H,V149I,V214M" "0,0,0,0,0,0" 23432 6158 dbsnp15857 NP_005990.1 "N159S,N17S" "0,0" 7257 11105 dbsnp15858 NP_001034804.1 "E87D,R132H,R99C" "0,0,0" 1733 11937 dbsnp1586 NP_004162.2 "A541G,G6S,K194E,V211D" "0,0,0,0" 6506 5505 dbsnp15861 NP_001135939.1 A90V 0 57801 11986 dbsnp15863 NP_004097.1 V5M 0 2207 14794 dbsnp15868 NP_001191015.1 "L37F,Q8K" "0,0" 4681 12619 dbsnp15870;dbsnp15871 NP_001167540.1;NP_796372.1 "D191N,T295P" "0,0" 4009 8482 dbsnp15872 NP_078879.2 "H99R,V241M,V346I" "0,0,0" 79656 8144 dbsnp15874 NP_004772.1 T62M 0 9341 14425 dbsnp15876 NP_001036158.1 D170G 0 348378 13175 dbsnp15878 NP_443192.1 "E112K,R31H,T95A" "0,0,0" 116362 13043 dbsnp15879 NP_077305.2 "L114V,R158H" "0,0" 79180 12133 dbsnp15883 NP_848642.1 "D22Y,L85F" "0,0" 339487 13383 dbsnp15884 NP_001185610.1 "H58Q,L30R,R76W" "0,0,0" 54741 14095 dbsnp15886 NP_112227.1 "G183D,M203V,R206H" "0,0,0" 81849 9999 dbsnp15887 NP_055038.2 "T34A,V257A" "0,0" 4802 7434 dbsnp15892 NP_064447.1 "E180G,E54D" "0,0" 343472 8860 dbsnp15893 NP_001229450.1 "H100R,S113Y" "0,0" 729059 14397 dbsnp15896 NP_001108220.1 A152T 0 339453 13497 dbsnp15897 NP_954988.1 "A48V,E137K" "0,0" 378708 13650 dbsnp15898 NP_001017961.1 R221Q 0 149297 11689 dbsnp15900 NP_525127.1 R56L 0 140576 14613 dbsnp15901 NP_001021.1 P10L 0 6232 14808 dbsnp15902 NP_950171.2 A48V 0 100526739 13650 dbsnp15905 NP_001129696.2 "I178V,S31T,T368A" "0,0,0" 55758 5803 dbsnp15909 NP_005612.1 K3E 0 6283 14745 dbsnp15911 NP_001032354.1 A146D 0 9453 10863 dbsnp15912 NP_001230464.1 "C126S,C141S" "0,0" 441869 8609 dbsnp15914 NP_001123912.1 L57P 0 6726 14816 dbsnp15919 XP_001721585.1 "E120K,P158L,R111Q" "0,0,0" 100133301 13565 dbsnp15921 NP_055032.1 I252T 0 3776 5953 dbsnp15924 NP_005589.1 H129Y 0 4807 14203 dbsnp15925 NP_085148.1 "E62G,R199W,R216Q" "0,0,0" 80851 8737 dbsnp15927 NP_001138784.1 "G256R,P166S" "0,0" 2117 6446 dbsnp15928 NP_001010979.1 V23I 0 388701 14636 dbsnp15930 NP_005367.2 P232L 0 4610 8714 dbsnp15931 NP_060540.2 "G195S,G202S,T268A" "0,0,0" 23648 8836 dbsnp15934 NP_057341.1 R150H 0 51440 13130 dbsnp15937 NP_115717.3 "R110H,Y49F" "0,0" 84301 8612 dbsnp15940 NP_477518.2 "H122Y,I80S,R109W,T210I" "0,0,0,0" 118427 7273 dbsnp15945 NP_001034977.1 "A110V,P241Q" "0,0" 284615 6731 dbsnp15950 NP_064526.1 "A22S,K26T" "0,0" 56900 14861 dbsnp15951 NP_055732.2 "D69G,I394V" "0,0" 22854 6003 dbsnp15954 NP_078950.1 R123Q 0 79727 11926 dbsnp15956 NP_110433.1 A88G 0 81563 14398 dbsnp15957 NP_036526.2 N138S 0 5202 13846 dbsnp15961 NP_056384.2 "R718H,R855H,W756R" "0,0,0" 26052 2769 dbsnp15963 NP_001186620.1 P36A 0 100527978 11635 dbsnp15964;dbsnp15965 NP_001186608.1;NP_689700.1 P36A 0 148534 11635 dbsnp15970 NP_004029.2 N313I 0 276 6448 dbsnp15972;dbsnp15974 NP_919440.1;NP_919439.1 T143M 0 118424 11382 dbsnp15976 NP_060099.2 "H613P,M378V" "0,0" 192670 2824 dbsnp15983 NP_004569.2 D196G 0 5867 12581 dbsnp15984 NP_001127875.1 A77D 0 284613 11899 dbsnp15986 NP_071770.1 S35C 0 10896 14939 dbsnp15987 NP_056424.1 V116L 0 - 13892 dbsnp15988 NP_001108072.1 V135L 0 26099 13892 dbsnp15990 NP_078851.2 V146M 0 79626 11042 dbsnp15992 NP_001035828.1 "E59G,L520V" "0,0" 6738 6023 dbsnp15996 NP_001030588.1 "A142T,E144Q" "0,0" 6391 13555 dbsnp15997 NP_078940.2 V289I 0 79717 10642 dbsnp15999 NP_079436.4 A197T 0 80232 4472 dbsnp160 NP_006615.2 "D270E,P276H,P276L" "0,0,0" 10771 5114 dbsnp16000 NP_116253.2 P227L 0 84950 10623 dbsnp16001 NP_001026863.1 K121N 0 11147 14399 dbsnp16002 NP_057210.2 A112T 0 51668 14034 dbsnp16003 NP_115486.1 L406Q 0 63950 5963 dbsnp16006 NP_001031722.1 P114T 0 11147 14399 dbsnp16013 NP_714924.1 N209K 0 128077 9977 dbsnp16015 NP_001128712.1 V20I 0 400793 10540 dbsnp16017 NP_001013425.1 "C166Y,H122R,K133T,Q144R" "0,0,0,0" 343068 5743 dbsnp16018 NP_001095133.2 "D179A,E168K,G648E,L647V,R603Q,R667H,R75Q,T650S" "0,0,0,0,0,0,0,0" 200030 98 dbsnp16019 NP_001093322.1 "E21Q,I25M" "0,0" 645425 5743 dbsnp16020 NP_839944.1 L30P 0 164022 121 dbsnp16021 NP_001038945.1 "P294L,Q308R,T297A" "0,0,0" 654348 6996 dbsnp16022 NP_899228.4 "L146F,N107S,R95K" "0,0,0" 200030 98 dbsnp16023 NP_001093321.1 "C290Y,E338Q,H326R,I353T,N336H,P294L,Q308R,T297A" "0,0,0,0,0,0,0,0" 391004 6996 dbsnp16024 NP_001093324.1 "A383T,D378N,F382L,L384P" "0,0,0,0" - 8029 dbsnp16025 XP_001130065.3 "H203R,Q225R,V232I" "0,0,0" 729368 5743 dbsnp16026 NP_003187.1 P85L 0 6920 9720 dbsnp16027;dbsnp16028 NP_001099000.1;NP_006358.1 R313G 0 10487 7058 dbsnp16029 NP_001093320.1 "G393A,R399C,T331A,W315R" "0,0,0,0" 391003 6996 dbsnp16030 NP_001094101.1 "P123L,R122S,V173I" "0,0,0" 653606 6996 dbsnp16031 NP_060052.3 V136G 0 55585 8123 dbsnp16032 NP_001137504.1 S40N 0 730262 121 dbsnp16033 NP_001137459.1 G517E 0 653149 4405 dbsnp16043 NP_777280.1 Y366H 0 3420 8884 dbsnp1605 NP_787128.2 "A66T,C57Y,E54G,I168T,L207F,N13S,N145D,N55D,R62W,S152L" "0,0,0,0,0,0,0,0,0,0" 5719 9024 dbsnp16050;dbsnp16051 NP_004578.2;NP_001036041.1 "A283V,A778T,C624R,D85E,E575K,E881K,G211S,H666Y,I747T,K952E,L656I,L751R,N584S,P206S,R334W,R469Q,R525C,R525G,R555C,R875Q,R891L,R936K,S165L,S766L,T278A,T687M,T879M,V118I,V577I,V832G,V855I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6238 967 dbsnp16055 NP_817089.1 "A247S,A624S,C717G,D123N,D234Y,G181R,G335R,H460R,H515Y,I144T,I45N,L551S,L63M,L773V,N404S,P517R,P808L,Q696H,Q711H,Q711R,R139C,R139H,R219Q,R228Q,R301G,S712A,T131K,T131M,V448A,V592I,V615L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60437 2887 dbsnp16077 XP_001128100.3 "A186T,A91S,G121S,L135F,L176F,P201S,R210C,R27G,V133E,V255G" "0,0,0,0,0,0,0,0,0,0" - 11208 dbsnp16087 NP_001180350.1 "A124T,A544S,A592V,A5V,A678T,A788S,A974V,E49K,E618K,E644K,K599E,L178S,P556L,R110S,R181Q,R196Q,R213Q,R499K,R632C,R632H,R711C,R955S,S626N,T107A,T569A,T954I,V321I,V581M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128553 1789 dbsnp16099 NP_065935.2 "A1581V,A25T,A376T,D1476N,D211E,E1050D,E372G,F501Y,G1669S,K1007E,K108N,K1552N,K1666M,K1881Q,N212D,P70T,R1040W,R1299W,R450C,R847C,R890C,R919C,S1728T,W865R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57644 434 dbsnp1611 NP_001230228.1 R14L 0 334 3493 dbsnp16113 NP_542178.2 "I18V,L165W,N83S,P10S,R28Q,T107M,V197L,Y102F" "0,0,0,0,0,0,0,0" 128853 10985 dbsnp16120 NP_848696.1 D374N 0 81502 8030 dbsnp16124;hgmd0613_528 NP_000924.3 "A203T,A21E,A21T,D278V,F757I,F757L,G710S,K455R,K840T,Q967R,S1011F,S941Y,T104A,V141I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5332 1433 dbsnp16126;dbsnp16127;dbsnp16128;dbsnp16129;dbsnp16130;dbsnp16131 NP_003591.2;NP_940838.1;NP_940837.1;NP_940836.1;NP_940835.1;NP_940839.1 I57V 0 6790 8518 dbsnp16152;hgmd0613_2412 NP_787110.2 "A132E,L267F,P408L,P423S,R155Q,T117I" "0,0,0,0,0,0" 3172 7125 dbsnp16154 NP_001245284.1 R16Q 0 3172 7125 dbsnp16159 NP_071753.2 "C145R,E95G,T260N,T260P,V154A" "0,0,0,0,0" 60598 8710 dbsnp16162;dbsnp16164;dbsnp16165;dbsnp16167 NP_001041686.1;NP_001184068.1;NP_001184069.1;NP_001041688.1 M94V 0 55861 11636 dbsnp16173;dbsnp16174 NP_543030.1;NP_543031.1 "D2V,D666Y,P109L,P137L,S593C,T114M,T77I,V664I,V664L" "0,0,0,0,0,0,0,0,0" 5786 3192 dbsnp16188 NP_689716.4 "D650N,D774E,E437D,E509D,F451S,H554Y,I221V,I546R,I804S,K359R,P557L,Q926R,R233C,R349Q,R681K,S198Y,S519P,S898C,T1023S,T479N,T675A,V103I,V978A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140699 1891 dbsnp1619 NP_055573.2 "A463P,D150G,E283K,E331V,E334K,E417A,E834Q,G381S,G421R,G815A,I449L,I539V,L704V,L828V,P480L,R81L,R872C,R872H,R872L,R895W,S252N,S26R,S317G,T462I,T556I,V238L,V336A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 399979 2139 dbsnp16195 NP_849181.1 A417T 0 3172 7125 dbsnp1620 NP_006160.1 "D61A,E126D,G53S,T245P" "0,0,0,0" 4837 11606 dbsnp16203 NP_852131.1 "G42E,H72P,K18R,K18T,V26L" "0,0,0,0,0" 3692 12018 dbsnp16217 NP_003824.2 "E325K,F37L,G206V,G25D,G522S,G533E,H281Y,I524N,L13F,L561M,N575K,P32L,P508L,Q249E,Q289H,R164S,R175C,R493C,R551C,R89C,V231F,V38L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8785 4876 dbsnp16230 NP_001238.2 "A153T,G23S,G92E,I395T,N284S,Q18K,R157Q,R281W,R303H,R82Q,S14N,S246R,S323N,V162I,V310M,V436I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 955 6929 dbsnp16232 NP_942094.2 "A189T,T172M" "0,0" 55653 12715 dbsnp16235;dbsnp16236 NP_001076799.1;NP_003425.2 "G124E,G193E,G601E,L78F,P152S,P86L,S251N,T161I,T432A,T626I" "0,0,0,0,0,0,0,0,0,0" 7692 4491 dbsnp16241 NP_001185915.1 "C160Y,G66R,G84D,H92R,I145T,K128T,K167R,M158T" "0,0,0,0,0,0,0,0" 100526773 13384 dbsnp16242 NP_065131.1 "G66R,G84D" "0,0" 57119 13384 dbsnp16250 NP_001186795.1 "L1383V,M1227L,N1234T,Q1347H,R1311S,V1327G,V1336L" "0,0,0,0,0,0,0" 55614 996 dbsnp1626 NP_056937.2 "E249Q,H246P,I32M,L56F,R120W" "0,0,0,0,0" 51035 10619 dbsnp16274 NP_036540.3 "A1077T,A474T,A890T,E415D,E546D,P516L,P658L,Q628P,S560F,T501M,V563L,V772A" "0,0,0,0,0,0,0,0,0,0,0,0" 23613 1460 dbsnp16277 NP_055717.2 "A245T,A39V,A486T,A931T,A936V,E304K,G165S,G540R,G540S,L425M,P270L,R10H,R140H,R232H,R747Q,R757C,R799Q,R858Q,T51A,T826S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22839 2140 dbsnp16279 NP_892118.1 I152V 0 22839 2140 dbsnp16282 NP_001186434.1 "A172V,A447D,D165E,E535G,G274E,P151L,P214L,P229S,P234L,R130Q,R25Q,R266W,R332Q,R441Q,S134G,T251I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116154 5704 dbsnp16287 NP_065397.3 "A221T,A268T,A500V,G376V,S220C,Y466C,Y575N" "0,0,0,0,0,0,0" 57325 3341 dbsnp16301 NP_055091.2 "E26Q,E32K,F506L,G212S,G484S,H485Y,L498I,Q244E,R179P,R265Q,R70Q,S444R,S501I,S97P,V460L,V481A,Y479C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11317 6374 dbsnp16302 NP_116208.3 "A279T,A285T,A82T,E847K,N540S,P160L,P185S,P410S,Q695L,R379Q,R737W,S489N,T699M,T806P,V841I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84905 2918 dbsnp16308 NP_542407.2 "E13D,E388V,G314R,G314S,G382D,G382S,S357P,T335M,T58I" "0,0,0,0,0,0,0,0,0" 140733 7622 dbsnp16311;hgmd0613_2191 NP_116575.3 "A1083T,A953T,D1041N,D362N,D728E,D966N,E894D,E965D,E990D,G1221A,G364S,M344T,M676T,N124S,P1016L,P1058H,P82L,P848S,P891L,P961L,P967R,Q1043R,Q1066H,Q421E,R1013W,R1162W,R348H,R600H,R708Q,S324R,S839I,T1060R,T1108I,T144I,T292A,T458M,T917M,V1179M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51750 1304 dbsnp16331 NP_112181.2 "G357D,H124R,H334R,L550F,S25W,T452S,V41L,V605I" "0,0,0,0,0,0,0,0" 81610 4975 dbsnp16335 NP_004789.1 "A690V,E227K,G403S,G407E,Q489H,V435I" "0,0,0,0,0,0" 9371 3644 dbsnp16337 NP_001167561.1 "P26R,R37W" "0,0" 83959 2511 dbsnp16348 NP_065871.2 "A116S,A1486S,A1562T,A1599V,A823D,A863T,C972F,D794N,G881S,H1379Y,I639V,N1233S,N761S,P716A,Q1279R,Q802E,R1062W,R1349C,R1589K,R724H,S1171N,S946T,V569M,V767I,Y1512N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57580 681 dbsnp16350;dbsnp16351 NP_842563.1;NP_842564.1 "G129R,G47S,M109L,P105Q,P95S,R11Q,R122Q,R159Q,R159W,R186Q,T195I,T83P,V151M,V179E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92086 5509 dbsnp16354 NP_690857.1 H199Q 0 90203 9134 dbsnp16359 NP_006457.2 "N306K,P278S,R67K" "0,0,0" 10621 10515 dbsnp16365 NP_003186.1 "V157M,V178I" "0,0" 6919 10846 dbsnp16367 NP_004526.1 "D431N,E289K,E296K,H357Q,K1113R,K138E,P338L,Q52H,R347H,R375W,R424Q,S537C,S537F,T782S,V137I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4661 1653 dbsnp16369 NP_056081.1 "A70T,F391V,I164V,L221M,L524F,M1I,M442V,N247D,R483H" "0,0,0,0,0,0,0,0,0" 23315 5399 dbsnp16370 NP_001157903.1 "A309V,D137E,E391K,G185R,G250D,G48D,G52S,H468L,H515N,K500R,M556L,N228S,R156W,R465L,R465W,R53Q,R541G,S398C,T414M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343578 4333 dbsnp16371 NP_115479.4 "E139K,E84V,G573S,H818L,H827R,I547M,K510N,L419P,L790V,L800F,N489K,P161L,R651K,R694Q,S117T,S206A,S257R,S275L,V198I,V782M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26013 2962 dbsnp16372 NP_056293.4 A28T 0 26013 2962 dbsnp16381 NP_065069.1 "A232S,A243G,H1191Y,I653V,N276H,P1027A,P1321L,P1336S,R1350H,R484Q,R522K,S353F,T1141M,T730M,V1420M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57148 837 dbsnp16393 NP_001092877.1 "D114G,D207G,E520K,G354S,G361S,R218W,S283N" "0,0,0,0,0,0,0" 55184 3595 dbsnp16398 NP_057184.1 G63S 0 51126 13401 dbsnp1640 NP_001020128.1 "A273V,D183N,E91G,S7G" "0,0,0,0" 25855 11100 dbsnp16406 NP_001239606.1 V559I 0 84532 4177 dbsnp1641 NP_004617.2 "M66I,R82W,S271L,S271W" "0,0,0,0" 7481 9564 dbsnp16414 NP_056232.2 "A145T,G98R" "0,0" 25876 12214 dbsnp16415 NP_001120930.1 "G39R,L171P,P94L,Y97C" "0,0,0,0" 54675 10845 dbsnp16420 NP_056153.2 "A1312V,C687R,D1230Y,D741V,D799Y,E1102D,E477Q,E865K,G1397S,G704R,I507N,I552V,K838R,L1395V,L1490F,M1249V,N986S,R1247C,R489G,R545C,S1166R,S1231F,S1428P,S846N,T1010M,V1297I,V1367I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 171023 785 dbsnp16421 XP_003118847.2 "A876T,A931T,E345K,E881G,F562L,G478D,G572S,G655A,G711S,G919E,H210R,H257Y,I1217V,I65V,M117I,N519D,N895S,P1154S,P1292H,P40L,P725H,R118C,R1218C,R159W,R236P,R368H,R692W,R858H,S1293P,S726L,T1240M,T1243M,T464M,T50I,T581M,T68A,V1331M,V580M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 1085 dbsnp16424 NP_543024.2 "A572T,E262K,E462K,I437M,I446L,L291P,P375S,R133C,R141C,R37H,R447W,R44W,R514Q,R69Q,T208A,T208M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140894 5470 dbsnp16427 NP_001011718.1 "A35V,A397V,A9P,F67L,G146S,M384L,R292Q,S287L,V104L" "0,0,0,0,0,0,0,0,0" 343702 5435 dbsnp16429 NP_055650.1 "A14T,E415G,H252Q,L104F,V18A" "0,0,0,0,0" 9885 2343 dbsnp1643 NP_001243615.1 "F248V,I133T,I164N,I174T,I272V,L128F,R217S,R236H,S287R,T127M,T360I,T387A,V346I,V351M,V358L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283106 8771 dbsnp16432 NP_001098395.1 "G103S,R259Q" "0,0" 55251 9404 dbsnp1644 NP_115285.1 "R145C,R177I,S246F" "0,0,0" 10929 11239 dbsnp16447 NP_543145.1 "A20V,G23R,G32E,V39I" "0,0,0,0" 128488 14527 dbsnp16452 NP_055538.2 "A257V,A364S,G282C,G389V,K143R,L297V,R286H,R381H,T292N,T51M,Y293C" "0,0,0,0,0,0,0,0,0,0,0" 9751 6770 dbsnp16455 NP_001028259.1 "L197Q,V185I" "0,0" 140733 7622 dbsnp16475;dbsnp16476 NP_542986.1;NP_071388.2 I549S 0 11083 322 dbsnp16478 NP_542194.2 "D1314G,G1512S,K315R,P780L,Q1231H,Q742E,R1600W,S367F" "0,0,0,0,0,0,0,0" 140710 679 dbsnp16480;dbsnp16481;dbsnp16482 NP_001244322.1;NP_954595.1;NP_068823.2 "P24S,P2S" "0,0" 7335 9207 dbsnp16483;dbsnp16484 NP_852107.1;NP_056154.1 "A583S,D873Y,D928H,G968S,I179V,I359V,K773E,M303I,N1079S,P154L,P195L,P746L,Q1020E,R717C,S889T,S974R,V915I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23394 1703 dbsnp16485 NP_006036.1 "A607P,G32V,G561R,L160F,T937I,V163I,V236M" "0,0,0,0,0,0,0" 10079 1564 dbsnp16489 NP_001092267.1 "D227N,G22S,G98S,L124I,M141V,P224S,R183W,R365C,S109P,S151L,S185T,S495N,V214A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84969 6553 dbsnp16495 NP_001243201.1 P293R 0 30813 9292 dbsnp16496 NP_001243200.1 R233G 0 30813 9292 dbsnp16499 NP_060015.1 "A366P,K357E,M106T,R137Q,R182K,R70G,S218N,S230P" "0,0,0,0,0,0,0,0" 54363 9206 dbsnp16502 NP_697018.1 "C49F,C49W,G27R,H28R,L32W,R42C,R54C,R54S" "0,0,0,0,0,0,0,0" 245932 14778 dbsnp16503;dbsnp16504;dbsnp16505 NP_057667.1;NP_570913.1;NP_001230122.1 "L120F,M18I,N103K,P124L,Q188K,T160A,V131A" "0,0,0,0,0,0,0" 51297 11794 dbsnp16506 NP_056453.1 "E122D,F729L,N236S,N343S,N343T,N770S,Q374P,R532K,R637Q,S777C,T148M" "0,0,0,0,0,0,0,0,0,0,0" 26133 3237 dbsnp16512 NP_056326.2 "A365T,D250V,L115V,N241Y,Q154E,R180H,R276Q,R283Q,R84W,V48L,V48M" "0,0,0,0,0,0,0,0,0,0,0" 25980 8917 dbsnp16517 NP_060901.2 "A255T,D118G,D97N,R115Q,R214Q,R295Q" "0,0,0,0,0,0" 55816 10124 dbsnp16519 NP_001009612.1 P19L 0 400831 14387 dbsnp16527 NP_695021.2 "L26F,R27Q" "0,0" 245932 14778 dbsnp16528 NP_002648.1 "A34V,P57L,R30Q,R32W,R490C,S267T,V310M" "0,0,0,0,0,0,0" 5326 6662 dbsnp16531 NP_001239267.1 "A104V,A11T,A619E,C16R,D604N,E414K,G126R,G3S,G486S,G680R,K588R,M416I,R200W,R394H,S88W,T821M,V102D,V244L,V348M,V483L,V611I,V621M,V655I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1002 2517 dbsnp16540 NP_001138822.1 "K194E,L9P,R142C,R3C" "0,0,0,0" 140873 12923 dbsnp16544;dbsnp16545;dbsnp16546 NP_001191375.1;NP_001191376.1;NP_060817.1 "A4T,Q53H,R140Q,R172H,R50Q" "0,0,0,0,0" 55317 12968 dbsnp16547 NP_071365.3 "G191D,I64F,S185T,T27M,V245I" "0,0,0,0,0" 63910 7842 dbsnp16548 NP_690593.1 R182W 0 958 11317 dbsnp16549 NP_006233.1 "A165T,E230D,R104C,R174Q,R181H" "0,0,0,0,0" 5509 10901 dbsnp16557 NP_005084.1 "D581E,E11K,N498S,R374H,V21L,W536G" "0,0,0,0,0,0" 9139 4453 dbsnp16561 NP_872390.2 "L167F,P84L,R82H" "0,0,0" 284805 13109 dbsnp16562 NP_002500.1 "A42T,E35D,G122A,P32L,P41S" "0,0,0,0,0" 4821 11428 dbsnp16564 NP_112193.1 "D30N,K76R,M51T,R56Q,V107F,V107I,V73I" "0,0,0,0,0,0,0" 81623 14528 dbsnp16565 NP_110438.1 "A35V,N172T,V198I" "0,0,0" 64949 12867 dbsnp16567;dbsnp16568 NP_689413.1;NP_055241.1 "D28G,E355K,L291V,R366W,S142T,V336I,Y244C" "0,0,0,0,0,0,0" 27131 8214 dbsnp16569;dbsnp16570 NP_783163.1;NP_008933.2 "A324V,D53E,K390T,K397T,M163V,N20S,Q382E,T240N" "0,0,0,0,0,0,0,0" 11047 8449 dbsnp16571 NP_543010.3 "A96T,F105S,L75M,R114C" "0,0,0,0" 92675 12774 dbsnp16574 NP_003072.2 K76R 0 6616 12723 dbsnp16578 NP_001009923.1 "D89E,I104L,I125M,M64T,R171C,R171H,R62C,R62H,S25N,S29L,Y164H" "0,0,0,0,0,0,0,0,0,0,0" 29058 13319 dbsnp16579 NP_061153.1 "G16R,N218I,R187H,R76Q,T109S,V63A,V63G" "0,0,0,0,0,0,0" 55905 12376 dbsnp16581 NP_071387.1 "E485K,F444Y,I186V,N254S,R598H,S116P,S673N,T656M" "0,0,0,0,0,0,0,0" 63935 4047 dbsnp16587 NP_536351.1 "D71E,S72C,S72G" "0,0,0" 2778 1952 dbsnp16590;dbsnp16591;dbsnp16592;dbsnp16593;dbsnp16594 NP_001161295.1;NP_001161292.1;NP_006689.1;NP_001161294.1;NP_001161293.1 "Y2C,Y59C" "0,0" 10904 14789 dbsnp16603 NP_542173.1 "A216V,H114R" "0,0" 128408 8954 dbsnp16626 NP_663627.1 "H97Y,Q85K,R87L,S103L" "0,0,0,0" 149708 12454 dbsnp16641 NP_060268.2 "A146V,A344S,H375Y,P178S,Q559P,S58G,V104I" "0,0,0,0,0,0,0" 54915 5707 dbsnp16648 NP_778252.1 C193Y 0 84174 11679 dbsnp16660 NP_003641.3 "I94T,R2Q,R74H,R77T" "0,0,0,0" 8530 14021 dbsnp16661 NP_361012.2 "R34G,R45K" "0,0" 51282 12087 dbsnp16662;dbsnp16664;dbsnp16665 NP_079194.3;NP_001138787.1;NP_001138788.1 "E8K,K315N,R222C,T104M" "0,0,0,0" 79980 9528 dbsnp16663 NP_001138789.1 E8K 0 79980 9528 dbsnp16666 NP_057492.2 "A552T,E494V,I491N,M91T,P75S,R173W,R213W,R571K,S26L,Y89C" "0,0,0,0,0,0,0,0,0,0" 51654 5314 dbsnp16680 NP_001128244.1 "A162V,E148D,H211L,P36T,R144Q,R186Q,R69G,R69W,V158M" "0,0,0,0,0,0,0,0,0" 8675 10283 dbsnp16684 NP_115910.1 "D366G,I91V,N350D,Q279H,R260Q,T108M,V58I" "0,0,0,0,0,0,0" 84612 9079 dbsnp16685 NP_536724.1 "F246S,G333E,N103S,Y415C" "0,0,0,0" 128869 7871 dbsnp16686 NP_062555.1 "A264V,D612E,D668E,G161E,G560S,M76T,R321C,R387Q,R480W,R530C,R530S,R686Q,T654M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56265 3755 dbsnp16688 NP_036516.1 "A204V,A243T,V388L,V388M,V433L" "0,0,0,0,0" 26205 6138 dbsnp1669 NP_036226.1 "A79T,D198N,K142N,K191N,R44L" "0,0,0,0,0" 25824 12648 dbsnp16697 NP_003107.1 "E112K,P127L,P191S,P436L,R2Q,S110P,S4N,T282I" "0,0,0,0,0,0,0,0" 6676 7829 dbsnp167 NP_203126.1 "P236L,R162H,R220H,R249K,T244S" "0,0,0,0,0" 840 9994 dbsnp16703 NP_061147.1 "A181V,A512T,C300S,D231H,G601A,N128S,R81W,T133A,T264P,T404N,V107L,V330A,V529I,V529L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55902 3933 dbsnp16706 NP_001313.1 "A141T,A16P,E140D,G79D,R130G,R43Q,R46C,R46H,R66C,R69W,S53R,W127R" "0,0,0,0,0,0,0,0,0,0,0,0" 1470 13991 dbsnp16707;dbsnp16708;dbsnp16709 NP_000904.1;NP_872588.1;NP_001186948.1 "A44T,A7V,P367L,R243H,R256Q,R259Q,R259W,R341W,V230I" "0,0,0,0,0,0,0,0,0" 4987 6800 dbsnp16710 NP_000669.1 "A281V,A318V,A77E,C275F,G525A,P240L,R309P,R439W,R568L,S31G,V353I" "0,0,0,0,0,0,0,0,0,0,0" 146 5527 dbsnp16713 NP_542791.1 "K27N,Q30L,T5A" "0,0,0" 140832 14833 dbsnp16714 NP_067071.1 "A782V,H564Q,L645F,R533H,V225I,V306M" "0,0,0,0,0,0" 64405 3046 dbsnp16715 NP_821158.2 "A275S,E338K,N394S,P471T,R289W,S504L,V316I" "0,0,0,0,0,0,0" 2686 4464 dbsnp16716 NP_005460.2 "A51T,G17D,H288Y,I308M,P135L,P147Q,P90L,R212Q,S2L,T30S,V307M" "0,0,0,0,0,0,0,0,0,0,0" 10005 10421 dbsnp16720 NP_055546.1 "A311V,A365S,D110N,G306S,H653Q,R136H,T245P" "0,0,0,0,0,0,0" - 4346 dbsnp16725;dbsnp16728;dbsnp16729 NP_059348.2;NP_059346.2;NP_004593.2 "D311N,L84P,V400I" "0,0,0" 6780 5463 dbsnp16731 NP_056383.1 "E175K,K473Q,K63E,S494N,V539I" "0,0,0,0,0" 26051 5594 dbsnp16737 NP_067043.2 "D228E,K26E,V179I" "0,0,0" 58495 11383 dbsnp16738 NP_997352.1 "A22V,C49R,G33V,P63Q,V7L,V93A,V93I,W41C" "0,0,0,0,0,0,0,0" 400830 14721 dbsnp16744 NP_001158283.1 "R47W,R53G,R69G" "0,0,0" 100303755 14821 dbsnp16745 NP_149120.1 "A22V,L184Q,Q272H" "0,0,0" 85508 9713 dbsnp16746 NP_003213.1 "A135T,A297T,A379T,A52S,P171T" "0,0,0,0,0" 7022 7399 dbsnp16747 NP_001180268.1 "C41G,G186R,G253A,I98F,R110W,R275Q,R40C,V412M" "0,0,0,0,0,0,0,0" 64849 5116 dbsnp16748 NP_073740.2 G208E 0 64849 5116 dbsnp16749 NP_861515.1 S96T 0 11065 13370 dbsnp16751 NP_057676.1 "E122G,P239T" "0,0" 2778 1952 dbsnp16754 NP_066923.3 "K146R,K453R,P346S,R140Q,V205M" "0,0,0,0,0" 9054 7458 dbsnp16760 NP_001032589.1 "E71K,H68P,P49L,P64L,Y58C" "0,0,0,0,0" 245937 14872 dbsnp16761 NP_004600.2 "G157S,G190R" "0,0" 6939 12988 dbsnp16762 NP_001243287.1 A84E 0 5753 7574 dbsnp16763 NP_002614.2 S134N 0 5203 14190 dbsnp16764 NP_001161142.1 "H87Q,P42A,P42L,V96M" "0,0,0,0" 100288797 13893 dbsnp16765 NP_071422.1 "P266L,R3C" "0,0" 64096 10902 dbsnp16767 NP_001019846.1 "H102N,N46K,V114I" "0,0,0" 170487 12020 dbsnp16768 NP_003279.2 "R34Q,V100M,V178A" "0,0,0" 7165 12350 dbsnp16772 NP_001230824.1 Q176P 0 7165 12350 dbsnp16777 NP_067038.1 "A233T,S7L" "0,0" 58490 10252 dbsnp16779;dbsnp16780 NP_001243467.1;NP_542777.1 "G140R,L84R,P94L,R12C,R12H" "0,0,0,0,0" 128653 13632 dbsnp1677;hgmd0613_2366 NP_710142.1 "A783S,A871T,D847N,E316Q,G830R,H34R,R419W,R467W,R531C,R620C,R620L,R636C,R80Q,R92H,T496M,V135I" "0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0" 10083 2619 dbsnp16781 NP_076964.1 "A218V,A264V,A37V,D134H,F100L,G127R,R243C,R243H,R243L,R63H" "0,0,0,0,0,0,0,0,0,0" 79025 10455 dbsnp16782 NP_001229600.1 "E11K,Q125K,R17K,V28I" "0,0,0,0" 100128496 13911 dbsnp16783 NP_055557.2 "E116K,R150Q,R215K" "0,0,0" 9777 4679 dbsnp16785 NP_001073941.1 "D258G,K39R,M32I,T118M,T233I,V130F,Y23C" "0,0,0,0,0,0,0" 128486 11658 dbsnp16787 NP_003809.1 "A42T,R417Q" "0,0" 8760 7391 dbsnp16788 NP_057088.2 "D427N,E279Q,E282K,E4D,R344Q,V53I,Y201C" "0,0,0,0,0,0,0" 51098 7830 dbsnp16796;dbsnp16798 NP_057029.8;NP_775271.1 "D324G,R232C,R232H" "0,0,0" 51006 9307 dbsnp16799 NP_071922.2 "A163T,A313T,T239A,T94I" "0,0,0,0" 57446 8705 dbsnp168 NP_065875.3 "A1777V,A213T,C1016S,E1541D,F1414S,G1121S,G1380A,G555R,G766R,I396V,K1138R,L1703F,L737R,L970V,N128S,N1579S,N713S,P865S,Q719R,R1631W,R1666Q,R492G,S1080N,S1359F,S1950N,S1950T,S684C,S755F,S914L,T1498M,T1516A,T1516I,T52M,T52R,T631M,T811A,V1929M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57584 448 dbsnp16801 NP_542174.1 "A6S,A92V,N168D,P174A,P70L,R82Q,T139I,T54M" "0,0,0,0,0,0,0,0" 128434 12889 dbsnp16802 NP_001127810.1 G18A 0 11237 13566 dbsnp16803;dbsnp16804 NP_001003897.1;NP_071360.1 A50V 0 63905 14798 dbsnp16805 NP_543017.1 "C60Y,I45T,K67R,M58T" "0,0,0,0" 140870 13384 dbsnp16806 NP_542184.1 R158H 0 140689 12864 dbsnp16808 NP_542192.2 "A369V,I327F" "0,0" 140706 7901 dbsnp16809 NP_001243727.1 "N198K,P341L,S390N,T304M" "0,0,0,0" 140688 4274 dbsnp16810 NP_110442.1 "D122G,V31A" "0,0" 81572 14204 dbsnp16811;dbsnp16812 NP_976072.1;NP_005107.4 "G47S,R582W" "0,0" 9962 4594 dbsnp16814 NP_006088.2 F90S 0 10398 9059 dbsnp16816 NP_056978.2 L142R 0 50861 12623 dbsnp16818 NP_899634.1 A67V 0 11264 12701 dbsnp16819;dbsnp16821 NP_001184058.1;NP_291020.1 T60S 0 90196 13805 dbsnp16822 NP_006453.1 A4D 0 10616 6470 dbsnp16824 NP_954673.1 "A58T,V76I,Y152H" "0,0,0" 387522 9207 dbsnp16825 NP_001155977.1 "A58T,V76I,Y149H" "0,0,0" 387521 9207 dbsnp16829 NP_892015.1 "D31A,P144S,R138Q" "0,0,0" 140730 1069 dbsnp16831 NP_001034229.1 "P111L,R158C" "0,0" 54976 12989 dbsnp16834 NP_542188.1 "H44P,Q167H" "0,0" 140700 12924 dbsnp16836 NP_003814.1 "G6R,R103Q,R39Q,V93I" "0,0,0,0" 8771 10864 dbsnp16837 NP_742002.1 "F13V,P3A,P3T,R78H" "0,0,0,0" 164237 14739 dbsnp16842 NP_055777.1 "A355T,H84Q,N449S,R165H,Y50D" "0,0,0,0,0" 22903 6266 dbsnp16843 NP_570612.1 "H110L,M2T,V103I,V73A" "0,0,0,0" 140880 14127 dbsnp16849 NP_001801.1 "A382V,E438K,Q358H,T64P" "0,0,0,0" 1059 5152 dbsnp16850 NP_689880.1 "A153V,N175S" "0,0" 140838 11957 dbsnp16851 NP_775915.1 "A49T,N105D" "0,0" 284756 14317 dbsnp16854 NP_067025.1 "C21R,R90L,V26L" "0,0,0" 58476 12540 dbsnp16855;dbsnp16856 NP_003395.1;NP_647539.1 "N110S,N139D,T196M" "0,0,0" 7529 11797 dbsnp16857 NP_001180308.1 R40C 0 54963 5875 dbsnp16860 NP_065724.1 A171T 0 57403 13100 dbsnp16863 NP_955777.1 V89I 0 55969 14038 dbsnp16865 NP_077275.1 "A83V,R20L" "0,0" 79144 14493 dbsnp16868 NP_463460.1 V99I 0 2280 14556 dbsnp16870 NP_001186715.1 R61H 0 2280 14556 dbsnp16871;dbsnp16872 NP_001015885.1;NP_003601.1 "P129S,T51A" "0,0" 8480 9246 dbsnp16873 NP_006094.3 V50I 0 10406 14348 dbsnp16879 NP_671730.1 T18M 0 259239 14790 dbsnp16880 NP_001949.1 "A176T,V171F" "0,0" 1917 7355 dbsnp16881 NP_001103984.1 A199V 0 57593 5164 dbsnp16886 NP_001165303.1 K23R 0 245934 14848 dbsnp16889 NP_001032819.1 A30V 0 245929 14779 dbsnp16890 NP_542788.1 P49S 0 100132911 14836 dbsnp16891 NP_057129.2 "A176G,E88D" "0,0" 51012 13110 dbsnp16901 NP_954870.2 "A11V,A35S,D112N,D272G,D551N,E69K,F352C,G549E,I246T,I246V,I88V,K363N,K401E,L124S,L470P,P425S,P7L,Q211P,R127H,R189K,R195Q,R222W,R269W,R276G,R412W,R426C,V13L,V147I,V242I,V300I,V547I,V68D,W325R,Y404S,Y482S,Y488C,Y488H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7179 5822 dbsnp16904 NP_066553.3 "A97V,D415N,E123A,E403K,K279E,K56N,R26Q,R343H,R417Q,R468W,V122A" "0,0,0,0,0,0,0,0,0,0,0" 4731 7155 dbsnp1691 NP_004730.2 "A528T,R80H" "0,0" 9219 3914 dbsnp16910 NP_775839.3 "A460V,D1336N,D138N,D779E,E1243K,G1196S,G582S,I767T,N1437H,N274D,N274H,R447Q,R918W,S1082R,S1155N,S1440G,T533P,T741P,T800M,T826P,V173I,V976I,V978I,W508R,W773C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89766 904 dbsnp16922 NP_783300.1 "A860S,K877E" "0,0" 2897 2501 dbsnp16930 NP_001193993.1 "A189T,H143R,V184G" "0,0,0" 1525 9295 dbsnp16931 NP_001193994.1 T75A 0 1525 9295 dbsnp16933 NP_001243508.1 "H71N,N84D,Q95E" "0,0,0" 388813 14223 dbsnp16944;hgmd0613_1046 NP_003298.1 "A1080V,A1362T,A1486V,A651V,A890V,C48F,D1236G,E1022D,E311D,G1202S,G1421S,G347S,H1314R,H995D,H995L,I641M,I876V,K1369R,K86R,L747V,M1422I,M727T,N273K,P1018L,P1412L,P993L,R1143Q,R1311Q,R1334H,R185L,R185Q,R250S,R411W,R412K,R469C,R610H,R755C,S136N,T1266M,T1277A,T1277M,T344I,T94M,V1262M,V1455G,V153M,V602A,V873I,V934I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7226 819 dbsnp16955 NP_387505.1 R2212T 0 54014 298 dbsnp16957 NP_478054.2 "A914T,E828K,E879K,P823T,P840L,R880Q" "0,0,0,0,0,0" 1292 2024 dbsnp16960 NP_058636.1 "A36V,E208D,E23D,G217V,I57T,P9S,R254C,R288G,R79Q" "0,0,0,0,0,0,0,0,0" 10069 10422 dbsnp16964 NP_878252.2 H12N 0 191585 13929 dbsnp16967;dbsnp16969 NP_000865.2;NP_997467.1 "A285T,E304K" "0,0" 3455 6389 dbsnp16974 NP_001128571.1 G8V 0 7113 6159 dbsnp16978 NP_001748.1 "G195R,P131S,R23C,R74L,V88I" "0,0,0,0,0" 873 11320 dbsnp16980 NP_037372.3 "A38E,A61S,E24K,F6L,N34D,P160L,P25L,V127L" "0,0,0,0,0,0,0,0" 29104 12656 dbsnp16986 NP_033664.2 "A568V,R544Q" "0,0" 6493 3467 dbsnp16994 NP_085059.2 "A1381T,A180T,A346T,D230E,E472Q,G111R,G173S,G517S,P886R,Q960H,R200S,R261W,S1484L,T187I,T461P,V144I,V1452L,V841I,V905M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80781 584 dbsnp16996 NP_003886.3 "A1233P,A1450V,A383T,A551V,A76S,D1053E,D791Y,D862E,G1183D,G1204R,G1453E,G1499D,I1418V,I746T,K334R,M1020I,P1288L,P1547L,P1586L,P54S,P54T,R1240C,R542C,R542G,S1072P,S1108G,S1535T,S558G,T1114I,T1236M,T1597M,V1345I,V1405A,V555I,V574I,Y210H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8867 719 dbsnp17008 NP_056380.2 "A38V,A546V,A859V,D554V,E508D,F322L,G1229A,G611C,H1155Q,K937R,L449S,M1V,M336V,M478L,M986L,P1580S,Q1101K,Q418H,R1145Q,R1542W,R395H,R654Q,S1663R,S573G,S771I,S957A,T1116M,T371R,T433M,V1751I,V640A,V807I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26046 554 dbsnp17010 NP_002763.2 "A913V,D860Y,F229L,G1002R,G401E,G504E,G969R,H12Y,H435R,K836M,L666P,M447T,P72L,P866H,P906A,Q902E,S15N,S308F,S847P,T312I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5651 2026 dbsnp17025 NP_872288.2 "C102Y,R30W,V5A" "0,0,0" 85319 14545 dbsnp17027 NP_001243299.1 "G131A,H39Q,H64Y,K345E,K41N,K433N,M36T,N20D,N22K,P42L,P42T,T266A" "0,0,0,0,0,0,0,0,0,0,0,0" 64092 7754 dbsnp17030 NP_853630.2 "C56S,G27S,P164T,Q93H,R148H,S114L" "0,0,0,0,0,0" 140258 13456 dbsnp17032 NP_001157907.1 C57Y 0 100288323 14917 dbsnp17036 NP_004640.3 "A110V,A183S,F242V,G208R,H229Q,I251L,K214R,L248V,R72C,V148M,V155A" "0,0,0,0,0,0,0,0,0,0,0" 8209 11519 dbsnp1704 NP_001034841.3 "A184S,A193T,G207C,M1V,P344S,P516L,P522S,R406Q,R434H,S209Y,T474M" "0,0,0,0,0,0,0,0,0,0,0" 387775 5798 dbsnp17044;hgmd0613_1955 NP_065690.2 "A12G,A19V,A775T,D625N,E348K,G670S,L400V,M666V,P701S,R271Q,R621H,R780Q,S177N,S197G,S30L,V347I,V415M,V586I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54101 3020 dbsnp17051 NP_778146.2 "C72Y,D264Y,H244Y,M535V,R451K,R58G,V188I" "0,0,0,0,0,0,0" 317754 1801 dbsnp17071 NP_853636.3 "G45R,G48V,G50D,S11R,Y51S" "0,0,0,0,0" 337968 14539 dbsnp17073 NP_055871.1 "A664S,E247K,E615K,G504D,L371V,L436P,L631P,T316M,T677A,Y60S" "0,0,0,0,0,0,0,0,0,0" 23076 3538 dbsnp17075 NP_031367.1 "D23E,E222K,G184C,G46S,M1I,N134S,T209M,V188A,V188L" "0,0,0,0,0,0,0,0,0" 6450 12142 dbsnp17079 NP_853637.2 "I61S,S51P" "0,0" 337878 14791 dbsnp17080 NP_859014.1 "A16T,V34M" "0,0" 353332 13997 dbsnp17082 NP_478067.2 "A189V,C394F,C394Y,G294R,M437V,P19H,P381S,Q92R,R352C,R79Q,S149N,V236I,V249M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 59271 7755 dbsnp17085 NP_115865.1 "A114T,A46V,E76V,G33R,P97H,T72N" "0,0,0,0,0,0" 64968 14336 dbsnp17090 NP_853648.1 "C9S,Y25C" "0,0" 337978 14364 dbsnp17095 NP_001001570.1 W94R 0 5152 5231 dbsnp17111 NP_478060.2 "A169V,A313T,G48C,N125Y,P176S,P191L,P194S,P231L,R128Q,R234W,R42C,R42H,S4C,S77L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54058 10355 dbsnp17112 NP_444507.1 "A315P,E45Q,I210V,I651V,P546L,Q298E,R436P,R640K,T507A,T649A" "0,0,0,0,0,0,0,0,0,0" 54102 4043 dbsnp17114 NP_853633.1 "C37Y,G48V,R43C,R43G,R43H,R43L,R43P,R43S,R54H,Y49C" "0,0,0,0,0,0,0,0,0,0" 337966 14805 dbsnp17122 NP_006125.2 "A139T,N77S,W39G" "0,0,0" 757 13775 dbsnp17124 NP_001243224.1 "A19T,A204T,D535N,G356S,L357I,L358R,P25Q,P363L,P41Q,R140G,R140T,V155M,V387I,V389I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2114 5038 dbsnp17125 NP_853638.1 "G61S,G63R" "0,0" 337882 9027 dbsnp17128 NP_001193995.1 T350R 0 1525 9295 dbsnp17142 NP_003015.2 "A1168T,A121T,K1367R,K691E,N549S,P903L,V1357I,V881I" "0,0,0,0,0,0,0,0" 6453 617 dbsnp17143 NP_002454.1 "A686T,E177K,E402K,G242R,G408R,M83T,P40L,P73A,R11W,R19Q" "0,0,0,0,0,0,0,0,0,0" 4600 3923 dbsnp17144 NP_005858.1 "A114T,A64G,D105H,I76V,P24L,P40S,P63Q" "0,0,0,0,0,0,0" 10281 14431 dbsnp17145 NP_061835.1 "P132L,R143Q,R162Q,S164L,W170C" "0,0,0,0,0" 53820 13176 dbsnp17146 NP_112153.1 "A109T,A248T,A45P,R234Q,R89Q" "0,0,0,0,0" 81543 11773 dbsnp17147 NP_067077.1 "D67N,E26A,V208M" "0,0,0" 56683 11106 dbsnp17148 NP_478061.1 "K103E,R150L" "0,0" 54059 13603 dbsnp17149 NP_003672.1 "R160W,R224H,R224P,S125L,T262A,T262I,V307I" "0,0,0,0,0,0,0" 8566 10624 dbsnp1715 NP_001076088.1 "A102D,A117V,A214V,C135Y,I68L,S100P,T273P" "0,0,0,0,0,0,0" 120379 10532 dbsnp17150 NP_060083.1 "A183S,D251G,D516H,E539K,I307V,K489R,K489T,P279L,T529I" "0,0,0,0,0,0,0,0,0" 29980 5610 dbsnp17152 NP_001124386.1 "E32D,N243D,S116P" "0,0,0" 10950 10963 dbsnp17154;dbsnp17155 NP_064517.1;NP_001032642.1 "A223V,T81M,V31I" "0,0,0" 56894 9030 dbsnp17166 NP_001003701.1 "A39G,G6R,R30W" "0,0,0" 522 14457 dbsnp17171 NP_056042.1 "A410P,I120V,M349T,R324Q,S318T,S391L,T76M,V139I,V195I,V335I,V367I,V50I" "0,0,0,0,0,0,0,0,0,0,0,0" 23275 7974 dbsnp17172 NP_598368.2 T406M 0 23275 7974 dbsnp17183 NP_787053.1 Y63H 0 337879 14904 dbsnp17184 NP_001229794.1 "A252V,C232Y,H276Q,L222I,P246S,P280S" "0,0,0,0,0,0" 3275 7902 dbsnp17185 NP_059142.2 "A331T,A5S,F127L,F79V,G7V,H69R,M1T,N84S,V300L,V80M" "0,0,0,0,0,0,0,0,0,0" 54148 9597 dbsnp17186 NP_542984.2 T334M 0 54148 9597 dbsnp17187 NP_853640.1 "G52S,G5C" "0,0" 337970 14805 dbsnp17189 NP_996781.1 "A101V,R86L" "0,0" 56246 13503 dbsnp17190 NP_001078924.1 "G148S,V205M" "0,0" 643803 11831 dbsnp17191 NP_853643.1 "R45H,R49H,S47L" "0,0,0" 337973 14539 dbsnp17192;dbsnp17193 NP_001035282.1;NP_060303.2 "K290Q,Q114P,Q269H,R202C,R202H,T288A,T86I" "0,0,0,0,0,0,0" 54943 8838 dbsnp17194 NP_001191103.1 "I212L,P196A" "0,0" 140578 11429 dbsnp17199 NP_008962.1 "A109V,A319T,G255R,L218P,R200H,R304C,R312H,R84C" "0,0,0,0,0,0,0,0" 11077 10055 dbsnp17201;dbsnp17202;dbsnp17203 NP_001155968.2;NP_062542.5;NP_001155967.2 "G146R,R126S" "0,0" 56245 12558 dbsnp17204 NP_057715.2 "A332T,G582S,I567T,K199T,K614E,S158N" "0,0,0,0,0,0" 94104 2513 dbsnp17207 NP_853635.1 H42Y 0 337967 14539 dbsnp17208 NP_853642.1 "S57G,Y25C" "0,0" 337972 14805 dbsnp17212 NP_543136.1 "A244T,G245R,G248R,L217W,L307F,M262T,M290I,P228L,P266L,Q213K,R187C,R303G,R33H,R37W,S243G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89765 10679 dbsnp17213 NP_003217.3 "R18T,V80M" "0,0" 7033 14730 dbsnp17220 NP_008879.3 "E283G,G117V,G348V,S84N,T312M,V278M" "0,0,0,0,0,0" 6782 7192 dbsnp17222 NP_620477.1 S348L 0 25825 6339 dbsnp17225 NP_981963.1 "H95Y,K73E,P98L" "0,0,0" 1827 11878 dbsnp17227 NP_853655.1 "C5Y,C7S,H13R,S14F" "0,0,0,0" 337963 14895 dbsnp17228 NP_006043.1 "I28V,T134I,T194M,T218M,V167I" "0,0,0,0,0" 10311 10943 dbsnp1723 NP_001004756.2 "C115Y,C253G,F318L,H102Q,I204T,L135F,L257R,M129T,M48K,N16K,P165L,P256H,P282H,Q110K,R134C,R248H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390059 10247 dbsnp17230 NP_004330.1 "R127Q,T62S" "0,0" 754 13363 dbsnp17231;dbsnp17232 NP_996845.1;NP_001526.2 "A275T,G353R" "0,0" 3275 7902 dbsnp17234 NP_056648.1 "A654T,G593R,I568V,L153V,R20C,R521W" "0,0,0,0,0,0" 104 3689 dbsnp17239 NP_005797.1 "L70V,P15S" "0,0" 10215 10339 dbsnp17243 NP_853645.1 "C53Y,Y41S" "0,0" 337974 14805 dbsnp17244;dbsnp17250 NP_001129626.1;NP_001230357.1 "M226I,R130C" "0,0" 2078 6909 dbsnp17251 NP_001157906.1 "G22S,S19Y" "0,0" 100288287 14937 dbsnp17252 NP_056173.1 "E888K,T494A" "0,0" 23515 2396 dbsnp17268 NP_001244919.1 M1I 0 25793 6248 dbsnp17269 NP_001028196.1 "G6E,L12H,L12P,L12R" "0,0,0,0" 25793 6248 dbsnp17276 NP_057839.1 "E127Q,F122L,G202A,I147V,R169W,V199G,Y76C" "0,0,0,0,0,0,0" 11015 12541 dbsnp17278 NP_006477.2 "A361V,A564T,C509S,E558D,G156R,H371Y,H695R,I164V,I221V,R562H,R642L,R689Q,T566M,V132D,V374M,V600I,V685M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2192 4049 dbsnp17288;dbsnp17290 NP_001241672.1;NP_001241670.1 "C63R,G15A,R67W,T50I" "0,0,0,0" - 14140 dbsnp17289 NP_001241671.1 "C130R,G82A,P20L,R11C,R134W,T117I" "0,0,0,0,0,0" - 14140 dbsnp17294 NP_612442.2 "G516S,H533R,I384M,L594P,Q231R,R270C,S164N,V18I,V194L,V504M" "0,0,0,0,0,0,0,0,0,0" 113730 5216 dbsnp1729;dbsnp1730 NP_000686.2;NP_001026786.1 "A236T,A285T,C155R,E230K,G256R,I235L,I274V,K335M,M12I,M12T,P257L,P36L,R150H,R212Q,R214W,R221C,R6Q,S198F,T246M,T366A,T40P,V147M,V222M,W375G,W375L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222 6518 dbsnp17301 NP_115997.5 "A1571V,A2317T,A2558V,A375V,A734S,A8T,A960V,D1441G,D1961G,E559K,G1034A,G349R,H1791L,I3M,I70T,L1187V,L1304V,L2301F,N726S,P63L,R1332L,R1753Q,R1801Q,R2076W,R217W,R2383W,R2449W,R2470H,S1216F,S2155N,S2239W,S2245I,T1099K,T136I,T228I,T528M,V1297M,W661R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84700 222 dbsnp17303 NP_663318.1 D16N 0 8542 8308 dbsnp17309 NP_683515.3 "C748Y,E405D,E958D,F1055L,S349R" "0,0,0,0,0" 27127 1322 dbsnp17322 NP_001186508.1 "A183V,A529T,A56P,D16N,D473N,G692S,I552V,L89R,P240L,P479S,Q629H,R10C,R175Q,R175W,R177Q,R227S,R369C,R369H,R52H,R641C,R83K,S144T,S165L,S524L,S531F,T33A,T9M,V399I,W252S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25777 3723 dbsnp17328 NP_001159476.1 N140D 0 164668 12957 dbsnp1733 NP_001013375.1 "A99T,C112S,I282V,K295R,L288V,M206V,Q235H,Q235R,Q293R,R165C,R165G,R165S,R20H,R20L,R20P,S223F,T109A,T109P,T109S,T51A,V9A,Y290C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 504190 9775 dbsnp17336 NP_066554.2 "E441K,E485A,E714A,K867N,P575S,P595S,P965L,R346C,R352S,S580F,T642M" "0,0,0,0,0,0,0,0,0,0,0" 4744 1996 dbsnp17338 NP_001139760.1 "C4S,G347S,M399R,P15S,R324Q,R381C,R394W,R485C,R584H,S514T,T463S,V171I" "0,0,0,0,0,0,0,0,0,0,0,0" 150209 5079 dbsnp17339;dbsnp17341;hgmd0613_1745 NP_056145.3;NP_001138940.2 "A961V,D301G,E224G,L188F,L200F,N577D,N577H,R467C,R487H,S712F,S889R,S98F,T104A,T190M,T20M,T230I,T668M,T717A,V814I,V943A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23384 1667 dbsnp17343;dbsnp17344 NP_872292.1;NP_114116.3 "A24T,F165L,G21V,G55D,M229V,P138L,P42R,P65R,R226H,R243H,S9L" "0,0,0,0,0,0,0,0,0,0,0" 114904 11314 dbsnp17350 NP_689825.2 "A436T,A535T,C519R,D437N,D597G,E264K,G121R,G179D,G207V,G247V,I276N,K401N,K412R,L349V,P293L,P362S,R122W,R135W,R199W,R268C,R295H,R299H,R308C,R325C,R380C,R495G,R495Q,R495W,R544C,R61C,R96C,S219C,S517T,V252M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 164592 4996 dbsnp17364 NP_001165161.1 "A238T,G33E,G401R,I189F,L77S,M1V,M388V,P108S,R129G,R19C,R312W,R383W,R387H,R387P,R39C,R413W,S126N,S371N,S423R,T268R,V346F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23464 7679 dbsnp17372 NP_113632.2 "D209N,V150G" "0,0" 83606 12134 dbsnp17382 NP_001136436.1 "G13W,P137S,S141L,T92P,W125R" "0,0,0,0,0" 79640 12065 dbsnp17386 NP_001017437.2 "A107E,A225T,A378S,D82G,E158K,G64D,K288R,P650L,P677S,Q182R,Q372R,R325Q,R452Q,R530Q,R593Q,S351C,S659N,T16A,T201M,T428M,T519M,T661R,V75L,V75M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 550631 3591 dbsnp17393 NP_001157329.1 "A164G,A56S,A58T,I142S,N145D,S102L,T133M,Y269C" "0,0,0,0,0,0,0,0" 339669 11285 dbsnp17394 NP_597712.2 "A109G,G190R,P231R,P297T,P29L,P411L,P69L,R124Q,R358Q,T89S,V315F" "0,0,0,0,0,0,0,0,0,0,0" 129080 7715 dbsnp17395 NP_203740.1 "C392Y,D69N,H137R,I72V,R11K" "0,0,0,0,0" 23541 8466 dbsnp17400 NP_001157577.1 R1134Q 0 54456 1391 dbsnp17403 NP_001185650.1 "E314K,G239S,M20T,M398T,P21L,R191W,R256H,R365H,R407Q,V266M" "0,0,0,0,0,0,0,0,0,0" 55615 8370 dbsnp17409 NP_001003828.1 "E101K,E104K,E310G,H2P,K118E,M108V,N103K,P85R,Q75R,T107R,V297A,V91A,W37R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 29780 8345 dbsnp1741 NP_003096.1 "D2065V,D734N,E270K,F1099L,G1379D,H1813Q,I1116V,I552V,K2083R,L1993F,N1019S,N1246K,N1809S,N2174T,N371T,P669L,P712T,Q2129R,Q471E,R11P,R1207Q,R1684C,R2163Q,R904Q,S1979N,T1435S,T2134M,T947M,V1459I,V2097I,V750I,V884M,W1563C,Y1922S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6653 336 dbsnp17412 NP_056468.2 "A56T,D250V,E193K,F263L,K119E,K119N,K54E,L201Q,L252F,L343F,P256L,R248C,R272H,R318C,R330Q,R82Q,T41S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26150 9054 dbsnp17415 NP_001009939.1 "D233N,F172L,R90H" "0,0,0" 5413 6795 dbsnp17439 NP_001165131.1 Q28E 0 1727 10056 dbsnp17443 NP_001987.2 "R577W,V668I" "0,0" 2192 4049 dbsnp17445 NP_006476.2 D600Y 0 2192 4049 dbsnp17450 XP_003118866.1 "P23A,R73M" "0,0" 100506562 14262 dbsnp17455 XP_003403540.1 "E2D,P213S,P245T,S91T,S91Y,T129A,T19A,T3A" "0,0,0,0,0,0,0,0" 100652894 11713 dbsnp17469 NP_851851.2 "A449V,D220H,D274Y,E281K,E408K,E493Q,E497K,G346V,G381R,G424R,G513S,H268Q,I496M,L330F,N202Y,P298L,P506L,P509R,Q360H,R175W,R204W,R296Q,R348H,R421C,R426C,R430W,R441C,R441L,R452Q,R522S,R532Q,R532W,R554C,S418R,S454N,T340M,T536M,T539P,V422L,V438I,V439I,V479A,V479L,Y196C,Y263C,Y437C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 553158 5774 dbsnp1748 NP_001244251.1 "E242K,G71R,M107V,N176S,T31M" "0,0,0,0,0" - 3531 dbsnp17490 NP_001026971.1 "Q684R,S668P" "0,0" 3985 4209 dbsnp17496 NP_001180343.1 "A62V,E379V,E381G,K304E,Q235R,R18C,R18H,R254W,R90C,V184M" "0,0,0,0,0,0,0,0,0,0" 51807 7568 dbsnp17522 NP_001243463.1 A5V 0 6576 10456 dbsnp17524 NP_057510.4 "A219V,A252V,A293T,A524T,A624G,A654T,D482E,D637H,E726Q,L381P,P203L,P87S,R130Q,R302Q,R451W,R512H,R525Q,S341N,S489L,S496L,S718P,T200A,V178L,Y167D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51512 3714 dbsnp17525 NP_001116203.1 G963R 0 57553 425 dbsnp17526 NP_001129476.1 R806H 0 57553 425 dbsnp17533 XP_003403533.1 "Q191H,T330A,V208A" "0,0,0" - 7680 dbsnp17535 NP_477352.3 "A48P,D1182N,H529Y,I339V,M1328T,M328I,M380V,M889V,N949S,P1706A,P1706S,P392L,R1158Q,S206L,V1851L,V97I,Y1154H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5297 377 dbsnp17537 NP_001229242.1 P164L 0 728229 9745 dbsnp1754 NP_001244253.1 "E203K,G32R,M68V,N137S" "0,0,0,0" - 3531 dbsnp17541 NP_001193947.1 "G26A,T52A" "0,0" 6525 2100 dbsnp17544 NP_599031.1 A13V 0 6525 2100 dbsnp17545 NP_001193946.1 "E54K,G51E" "0,0" 6525 2100 dbsnp17546 NP_001243452.1 G88E 0 7625 4651 dbsnp17550 NP_065194.2 "A1408V,A1583T,A674V,D1096E,D1166N,D538N,E1015K,E1065K,E1436K,F1507Y,G1031A,G1064R,I4V,P373L,Q1395H,R1000W,R1103W,R1130L,R1209W,R1211W,R1763W,R30Q,R35Q,R652C,R664C,S197P,T1022A,T267S,T54S,V1164M,V1343L,V1343M,V1365L,V219L,V338I,V619I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85378 550 dbsnp17553;dbsnp17554;dbsnp17555 NP_001131077.1;NP_001131078.1;NP_071424.1 "A86G,A87V,E192K,G15A,G249E,I63V,N159K,Q102R,R324K,S155C,V128M,V220F" "0,0,0,0,0,0,0,0,0,0,0,0" 64098 10130 dbsnp17558 XP_001129377.1 "G149E,G197S,P216L,R535W,S122L,S563L,T221S,T555M" "0,0,0,0,0,0,0,0" - 5509 dbsnp17559 NP_001001852.2 "M238L,P313S,V300A" "0,0,0" 415116 8499 dbsnp17563 NP_001138678.1 "A1428D,A1428T,K1688R,K439R,P1581L,P205T,P818L,R1592K,R644L,S142N,T1706M,V1599M" "0,0,0,0,0,0,0,0,0,0,0,0" 85379 556 dbsnp17572 NP_001180265.2 "A151G,A29V,D235N,I102T,M245K,M324I,Q43R,R145K,R20G,R20Q,R20W,T244I,Y36C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 730005 8466 dbsnp17575 NP_001006667.1 "A78V,G95C,Q87L" "0,0,0" 200316 8880 dbsnp17576;hgmd0613_1266 NP_004773.1 "A82T,F116L,S163G,S210F,T186I" "0,0,0,0,0" 9342 11755 dbsnp17588 NP_001073007.1 "K209I,K209R" "0,0" 7494 9083 dbsnp17598 NP_001013669.1 "E113K,G328S,K543R,Q56H,R304Q,R369Q,S294I,V162M" "0,0,0,0,0,0,0,0" 646851 5554 dbsnp17599;dbsnp17600 NP_001091740.1;NP_002400.3 "A244D,D492H,D499H,D97H,G66V,R324G,R324S,R71C,R71H,V362M" "0,0,0,0,0,0,0,0,0,0" 4248 6091 dbsnp17604 NP_001129246.1 "A15V,Q476H,R442H,R553P,S469N,T23M,Y176H" "0,0,0,0,0,0,0" 8224 4040 dbsnp17607 NP_078957.2 "E186K,G118S,G283R,H289D,R247H" "0,0,0,0,0" 79734 10370 dbsnp17608 NP_443138.2 "A265T,A353V,C629R,D192E,G510S,G511R,H780Q,K638R,N76S,P474S,R219W,R369H,R727C,S262Y,V255L,V255M,V647M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114794 3048 dbsnp17610 XP_003403539.1 "H146R,R130H,S124C" "0,0,0" - 13443 dbsnp17614 NP_055161.1 "A353T,A418G,E342V,E92K,F260L,K516N,M230V,P118S,P130L,P134A,R433C,S288N,T113M,T175M,T179A,T299M,T97M,V53M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25771 6375 dbsnp17617 NP_079480.2 "L367M,P25L,R28S" "0,0,0" 80305 9084 dbsnp17622 NP_001001663.1 "A20D,G80D,T85S" "0,0,0" 255349 14265 dbsnp17625 NP_110434.3 "A207V,A235P,A456T,D67N,E340K,I427F,I97T,K476E,L368V,L99R,M73I,M73V,R10W,R221C,R239Q,R275P,R275Q,R308Q,T98M,V138M,V417A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 66035 6608 dbsnp17627;hgmd0613_744 NP_001229825.1 "A641V,D253N,F685L,H539D,M1120V,R249K,R389C,S491T,S712F,T592M,Y852H" "0,0,0,0,0,0,0,0,0,0,0" 9681 733 dbsnp17632;hgmd0613_693 NP_001128573.1 "A96V,D182E,E286K,E325Q,E374G,P13S,P207A,P287L,Q92H,R189G,R225H,S344A,S344T,T229M,V219M" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79174 8551 dbsnp17635 NP_068594.1 "G363R,M1T,P112Q,R136C,R136H,V9M" "0,0,0,0,0,0" 60489 8915 dbsnp1764 NP_001132915.1 "A541S,E595Q,L560P,S583P" "0,0,0,0" 7439 5093 dbsnp17650 NP_060060.3 "A333T,D363N,D874E,E654K,G186S,G283S,G444S,G531A,G531D,H611R,H684Y,M227I,R215Q,R468W,R908C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23264 2136 dbsnp17655 NP_001020014.1 V16M 0 23112 537 dbsnp17657 NP_001138890.1 "A1129V,A2323P,A2424G,E1054K,E695Q,G2273S,G2432R,H927Y,I730T,K287R,L1381V,M805L,N2402S,P1599L,P2008S,P2308Q,R1737H,R1851Q,R2435H,R921W,S1477A,V198F,Y102C,Y1673S,Y903H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23331 247 dbsnp17659 NP_277052.1 A1238V 0 85358 591 dbsnp17662 NP_055125.2 "D101N,G8R,R43H" "0,0,0" 23551 11255 dbsnp17663 NP_056519.1 D69N 0 27351 13581 dbsnp17664 NP_997210.3 "A2T,A2V,N95S" "0,0,0" 150383 14354 dbsnp17666 NP_055166.1 R155Q 0 25830 11209 dbsnp17673 NP_001001794.3 "R215H,V403M" "0,0" 414918 5047 dbsnp17678 NP_001229827.1 "A121T,A347T,A434S,A486S,A486V,A875T,D633E,E262D,E406Q,E602Q,G177R,G782D,H538Y,L152Q,M834I,P694L,P728A,R260W,R474H,R493Q,R732K,S413F,S427R,S870R,T466M,V266I,V532M,V927I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9701 2254 dbsnp17692 NP_001002837.1 "G80D,L529F,R154Q,R178H,R383Q,R613W,S332I" "0,0,0,0,0,0,0" 27124 2085 dbsnp17693 NP_055909.2 "A187T,I69M,P362L,S250T,V289I" "0,0,0,0,0" 23119 4976 dbsnp17694 NP_001156551.1 "A94V,P193H,V214I,V85G" "0,0,0,0" 27439 5452 dbsnp17700 NP_001034659.2 "C192Y,E325G,E340K,G315R,I302V,L292V,P432S,R157S,R247W,V280I" "0,0,0,0,0,0,0,0,0,0" 83999 6816 dbsnp17703 NP_663745.1 "A112V,A139P,D133E,D180E,K137N,R123H,T19A" "0,0,0,0,0,0,0" 200315 8915 dbsnp17718 NP_689512.2 "A456T,G238S,L554V,P322S,P341R,P545L,Q169R,Q349R,R405W,R418Q,S246C,S282F,S376R,T138M,V185I,V343A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29781 5071 dbsnp1771;dbsnp1772 NP_000996.2;NP_001243731.1 "L142I,P233Q,P233R,P239Q,P239R" "0,0,0,0,0" 6188 12061 dbsnp17720 NP_057515.1 D4N 0 23542 3066 dbsnp17722 NP_079321.3 "C252R,N412T,P398S,R39C,S406T,S461G" "0,0,0,0,0,0" 80115 6160 dbsnp17725 NP_001005735.1 R144Q 0 11200 5328 dbsnp17728 NP_001243225.1 "A30V,E22G,L8V,P26S,W7R" "0,0,0,0,0" 100423062 12661 dbsnp17729 NP_001171597.1 "A159V,A175T,A54T,C10W,K188R,M33I,M42K,R64W,R69W,S61F,T211A,T211S,V43G,V56A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100423062 12661 dbsnp1773 NP_000995.1 "K24M,K24R,L27F,S6C,V73I" "0,0,0,0,0" 6181 14473 dbsnp17735;dbsnp17736 NP_006469.2;NP_689422.1 "G463S,P511S,P627L,R303C,R314Q,R317G,R646H,S490G" "0,0,0,0,0,0,0,0" 10634 4259 dbsnp17743 NP_055108.2 "A452T,A456P,M323T,N364S,R262Q,R326W,S186P" "0,0,0,0,0,0,0" 23467 6680 dbsnp17744 NP_055153.1 "F320L,M189V,N162S,R243Q,R28Q,R301W,R65W,T274M,V71I,V71L" "0,0,0,0,0,0,0,0,0,0" 23761 9102 dbsnp17753 NP_037368.1 "A60V,N368S,T255M" "0,0,0" 25814 7118 dbsnp17757 NP_060401.2 "A12V,A425V,C367Y,D287G,E267K,E387K,P281S,R404W" "0,0,0,0,0,0,0,0" 55020 7219 dbsnp17768 NP_001244064.1 "G40S,R26H,R34H,R79H,R79P" "0,0,0,0,0" 3976 12909 dbsnp17769 NP_005234.1 "G465S,G645S,S197T" "0,0,0" 2130 4473 dbsnp17778 NP_619538.2 "K420R,P423L" "0,0" 11078 278 dbsnp17784 NP_079097.1 "D175G,D175V,T193A" "0,0,0" 79879 12351 dbsnp17785 NP_478679.1 "A301V,N142K,R195Q,R258C" "0,0,0,0" 7477 9677 dbsnp17786 NP_057356.1 "A309T,G200S,G279D,I143V,R169C,R169H,R218C,R74Q,S289G" "0,0,0,0,0,0,0,0,0" 10766 9788 dbsnp17788 NP_077289.1 "E135K,K6N,K8Q,R160W,R203P,S197G,T93M,Y98H,Y98N" "0,0,0,0,0,0,0,0,0" 79159 12683 dbsnp17789 NP_071327.2 "A216V,D141N,G217D,G65S,L171P,R161H" "0,0,0,0,0,0" 23753 12519 dbsnp1779 NP_859050.1 "D621E,D667V,N623Y,R619W,V609L" "0,0,0,0,0" 5519 4401 dbsnp17790 NP_689449.1 "A256T,A360V,G3S,N258T,P232Q,P255T,P276T,R165H,R348W,R359K,R76H,R97Q,S180A,S260P,T248P,T249A,V134M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11135 8786 dbsnp17791 NP_113669.1 "A158T,Q177R,R151G,R309L,R91Q,V138I" "0,0,0,0,0,0" 83733 10311 dbsnp17794 NP_689480.2 "A17T,P163S" "0,0" 91445 13146 dbsnp17796 NP_705931.1 "E344K,G86D,M1V,R17C,T207M,T26S,V20G" "0,0,0,0,0,0,0" 10762 7248 dbsnp17798 NP_689639.2 "R248K,R382W,R97C" "0,0,0" 140564 8880 dbsnp178 NP_001138732.1 "F644L,F8V" "0,0" 8031 4591 dbsnp17803 NP_001092764.1 "R157Q,S197L" "0,0" 85352 12990 dbsnp17805 NP_001129685.1 "A183T,C103R,C108W,C66R,K153N,N116K,N152S,P156T,S12F,V172I,V358I" "0,0,0,0,0,0,0,0,0,0,0" 23784 1801 dbsnp17807;dbsnp17808 NP_680480.1;NP_055152.1 "E219K,F39L,G372R,N76S,P335T,P457L,R142Q,R326Q,T200A" "0,0,0,0,0,0,0,0,0" 23759 6183 dbsnp1781 NP_079067.3 "G319A,L411F,R116W,R227C,R335H,R358Q,R410C,R46Q,R470W,S343P,T172N,V378M" "0,0,0,0,0,0,0,0,0,0,0,0" 79849 6567 dbsnp17821 NP_057582.2 "P96A,R154C" "0,0" 51537 13614 dbsnp17822;dbsnp17823;dbsnp17825;dbsnp17826 NP_001003789.1;NP_001124391.1;NP_001124392.1;NP_001124393.1 "A224V,D44A,E218K,N147T,R120Q,V159I,V208M" "0,0,0,0,0,0,0" 11158 12173 dbsnp17832 NP_001003684.1 "A62T,I47V" "0,0" 29796 14899 dbsnp17833 NP_001193949.1 "A320V,S220G" "0,0" 440829 8649 dbsnp17834 NP_055756.1 "G807R,N147S,R523H,R831C,V620I" "0,0,0,0,0" 22880 2241 dbsnp17835;dbsnp17836 NP_004972.1;NP_690607.1 F72V 0 3761 7681 dbsnp17837 NP_001074312.1 "A158T,D153N,M139I,V118M" "0,0,0,0" 653689 12028 dbsnp17838 NP_663791.1 "A166T,P192L,S26G" "0,0,0" 9145 12268 dbsnp17839 NP_001193981.1 "L165P,Y139D" "0,0" 645426 9745 dbsnp17840 NP_037505.1 "A601V,A655T,G371E,G503R,G515D,P582T,R213Q,R226H,R607K,R746W,T745A,V254A,V501M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 29801 3382 dbsnp17842 NP_001171172.1 "A142V,A168V,D53N,G129S,R108Q,R108W,R139W" "0,0,0,0,0,0,0" 11020 13252 dbsnp17847 NP_002064.1 "A104S,E290K,E309Q" "0,0,0" 2781 9547 dbsnp17848 NP_055323.2 "D99E,S188I" "0,0" 27350 8880 dbsnp17849 NP_075380.1 "G314S,G356S,P147L,R131H" "0,0,0,0" 65078 7156 dbsnp17854 NP_068735.1 "D100N,G230R,P130H,Q23K,R300Q,R327H,R356H" "0,0,0,0,0,0,0" 7621 3578 dbsnp17855;hgmd0613_1436 NP_005975.1 K255R 0 6576 10456 dbsnp17857 NP_001003704.1 "A76V,D123V" "0,0" 51537 13614 dbsnp17858 NP_001191756.1 Q32R 0 63929 6531 dbsnp17859 NP_001001479.1 "L172R,P246L,R214K,R342W,V286I" "0,0,0,0,0" 339665 9671 dbsnp17860 NP_002963.2 "A290T,A614V,L1414M,L374Q,N1074H,P1112S,P1643T,R1053W,R1254C,R1476G,R1771C,S1313N,S20I,V1385G,V167M,V625I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6305 495 dbsnp17863;dbsnp17864 NP_003586.3;NP_001008566.1 "A112T,R118H,R153H" "0,0,0" 8459 9055 dbsnp17866;hgmd0613_1326 NP_005189.2 "N224H,P92L,Q328R,R344W,T301I,Y50C" "0,0,0,0,0,0" 1120 8697 dbsnp17867 XP_003403541.1 "A24T,G74V,H79Y,Q103R,T206N,T64I" "0,0,0,0,0,0" 100652901 12802 dbsnp17868 NP_056079.1 "R289Q,R289W,S197N" "0,0,0" 23313 8412 dbsnp1787 NP_775859.3 "A1008T,A1084P,A1128V,A1140V,A436T,A94P,D248E,D304N,E398K,G63S,H146R,I1131V,I194V,K109R,K563T,L130R,L677F,M559V,N1152S,P606L,P855T,Q662H,R1048Q,R1067H,R235Q,R235W,R350L,R472Q,R512C,R586Q,R672C,R7Q,R7W,R875Q,R976Q,S503I,S57G,T1052I,T1276A,T27A,T624M,V1271I,V14A,V25L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283284 1114 dbsnp17870 NP_001005239.1 "A134T,A252V,D136N,K105T,L299H,M243I,P244S,Q7H,S90F,V63A,V89A,W65R,Y50N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 81061 9791 dbsnp17871 NP_002667.2 "A5S,R199C,R251Q,T127N,V241M" "0,0,0,0,0" 5372 11659 dbsnp17876 NP_001014440.2 "G131R,R95H" "0,0" 440836 11853 dbsnp17877 NP_006758.2 "A664T,K263R,R471H" "0,0,0" 8216 2963 dbsnp17881 NP_036605.2 "D117N,K115R,S29C" "0,0,0" 25828 13615 dbsnp17882 NP_116164.2 "D543E,E62Q,H474R,T443M" "0,0,0,0" 84861 4756 dbsnp17883 NP_663786.2 "A26V,V230A" "0,0" 55964 5326 dbsnp17889 NP_001026865.1 "P34L,S73G,V346G" "0,0,0" 23543 7583 dbsnp17890 NP_055124.1 C330G 0 23543 7583 dbsnp17895 NP_690594.1 "G73D,H74Y,L76V,V83I" "0,0,0,0" 3543 12661 dbsnp17896;dbsnp17897 NP_001077861.1;NP_001346.1 "I98T,R99C" "0,0" 1652 14371 dbsnp17898 NP_620152.1 "R235H,R260H" "0,0" 129138 10865 dbsnp1790 NP_001165694.1 "D68N,L19P,R37G,V265M" "0,0,0,0" 81532 11522 dbsnp17901 NP_001118.3 "A693T,A873S,A886T,M667I,R235H,R913Q,T922M,V589M" "0,0,0,0,0,0,0,0" 162 2337 dbsnp17905;dbsnp17906 NP_036396.2;NP_001182000.1 "P28L,R377H,V24I" "0,0,0" 25829 8314 dbsnp17908 NP_872326.2 R127H 0 150248 13959 dbsnp1791 NP_036510.1 "A161V,A237T,F238I,G155E,I228T,I77N,L222F,N42K,R122C,R122H" "0,0,0,0,0,0,0,0,0,0" 26493 9775 dbsnp17911 NP_055275.1 R33S 0 27254 13869 dbsnp17916 NP_055107.3 "A339V,A410P,G348S,G405S" "0,0,0,0" 23466 8350 dbsnp17917 NP_056188.1 "H110P,R80W" "0,0" 25776 14318 dbsnp17918;dbsnp17919 NP_003268.2;NP_001124333.1 V162M 0 7122 10807 dbsnp17921 NP_064628.1 K76R 0 56993 14060 dbsnp17925 NP_005731.1 R15Q 0 10126 14589 dbsnp17926 NP_001159349.1 "R6H,R96H" "0,0" 267020 14650 dbsnp17928 NP_998885.1 Y135H 0 400916 13902 dbsnp17929;dbsnp17930 NP_061976.1;NP_001003692.1 S70C 0 55954 13550 dbsnp1793 NP_001167022.1 "A258V,C191S,E88D,G410C,G77R,K196E,M292V,P411L,R103H,R175Q,R18C,R257W,T118K" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56649 7825 dbsnp17931 NP_005198.1 G221S 0 1399 10782 dbsnp17932 NP_076958.1 "R114P,R114Q" "0,0" 79019 13364 dbsnp17934;dbsnp17936 NP_001013454.1;NP_001123989.1 "K224R,R43S" "0,0" 4357 10486 dbsnp17937 NP_003744.1 V484M 0 8664 5876 dbsnp17939 NP_003396.1 N39S 0 7533 11797 dbsnp17941 NP_776154.3 "Q138E,R25G" "0,0" 128977 14061 dbsnp17942;dbsnp17944 NP_001018060.1;NP_612211.1 "S166G,S174R" "0,0" 171568 12890 dbsnp17945 NP_004138.1 "L200M,T192I,T355M" "0,0,0" 4733 9263 dbsnp17947 NP_006468.1 V104L 0 10633 12902 dbsnp17948;dbsnp17949 NP_079142.2;NP_001240774.1 L82F 0 79924 13960 dbsnp17950 NP_001138403.1 M1I 0 391322 14371 dbsnp17951 NP_001122107.1 "M939V,V1558M" "0,0" 440804 697 dbsnp17952 NP_004166.1 E26D 0 6634 14319 dbsnp17955 XP_003118870.1 "R179W,S207L,T199M" "0,0,0" - 5509 dbsnp17957 NP_001092047.1 "T112A,T112N,V36E,V36G,V36L,V36M" "0,0,0,0,0,0" 6160 14285 dbsnp17960 NP_001193769.1 "D320N,F453L,G141A,G141D,K190E,S267Y" "0,0,0,0,0,0" 10618 7001 dbsnp17961 NP_001193770.1 F439S 0 10618 7001 dbsnp17965 NP_059522.1 "I608V,V594M" "0,0" 119 3819 dbsnp17967 NP_001171984.1 K16R 0 119 3819 dbsnp17969 NP_001239553.1 "A368V,D753E,E684V,I95V,L956M,R613H,S516T,S525F,T12I,T22I,Y2F" "0,0,0,0,0,0,0,0,0,0,0" 6546 2222 dbsnp1798 NP_665803.2 "A531T,D382N,E972D,G994S,H250Q,I897T,M791L,N963S,P381A,R195L,R357H,R437H,T797N,T918A,V784L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25841 1696 dbsnp17984 NP_005678.3 "A93P,L219P,Q148E,R127H,R17C,R98W,V585I,Y192H" "0,0,0,0,0,0,0,0" 10056 5290 dbsnp17985 NP_542159.3 "A264S,D163N,D216H,D60G,G32R,H243Q,L132F,L64F" "0,0,0,0,0,0,0,0" 51374 11210 dbsnp1799 NP_001129978.2 "A438G,A469S,D293E,D55E,I162M,I288V,I540V,L6F,Q551E,R172G,R203H,R48C,S125N,S266P,S339P,T361P,T424I,T58S,V121L,V132M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283238 5798 dbsnp17992 NP_001135828.1 L278F 0 60491 9045 dbsnp17993 NP_008818.3 "C358R,G109S,I203M,L112Q,R55Q" "0,0,0,0,0" 678 6771 dbsnp17997 NP_001171944.1 R550G 0 3431 3943 dbsnp17998 NP_536349.2 "A128V,A206V,E207K,E212G,E538K,G126S,G299R,G483R,G700S,K439E,L181R,M249V,M523T,M579I,P151S,R112G,R519H,R669H,S173L,S210A,T330K,T330M,T367M,T624M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3431 3943 dbsnp18017 NP_001073860.1 "A796T,M826T" "0,0" 6672 2696 dbsnp18019 NP_001193630.1 M686T 0 6672 2696 dbsnp18034 NP_689598.2 "A178V,A368P,A368T,A46S,A503V,D284E,I74V,L371M,L440F,M197I,N517S,Q271L,R220W,R382Q,T413I,V426I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 130162 5324 dbsnp18049 NP_001165102.1 "A475V,C281R,G530E,L247P,R167Q,R461W,S268R,T238I" "0,0,0,0,0,0,0,0" 115677 5641 dbsnp1805 NP_001193554.1 "A77V,C152Y,D369G,E214K,E220A,F270L,I14T,I76F,N359H,P396S,P441L,R11K,R136H,R60W,R83W,T290I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 7546 dbsnp18053 NP_000339.2 R105K 0 6716 11815 dbsnp18054 NP_001073879.2 "A164G,D849N,R406C,R523H,R627Q,S454T,S840R,V582M" "0,0,0,0,0,0,0,0" 150726 2741 dbsnp18062 NP_963868.2 "A329D,A329V,D894A,D894H,E630K,E68V,E908K,G691R,K109R,L226P,N564S,P1010L,P223S,P54L,P910R,R104Q,R1225Q,R663W,R69W,R944C,R97Q,S253L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6508 1255 dbsnp18063 NP_443152.1 "G369S,G838S,I160M,R114Q,S139R,S31N,V193M" "0,0,0,0,0,0,0" 114818 2742 dbsnp18070 NP_006187.2 "A205G,A205V,N84S" "0,0,0" 5093 9283 dbsnp18071 XP_291007.8 "A1032T,A11D,A1576T,A577V,A626V,A73T,D537E,E332G,F1110S,G662V,H504L,I440N,I806V,K492N,L1249F,L1641V,L956F,M1382V,M1551V,M1581I,M208V,M508T,P1135L,P1657L,P318L,P319T,Q1044E,R1144C,R1423C,R490W,R496K,R584L,R630W,R775W,R876Q,S1078I,S154F,S986G,T1468A,T51M,T543I,T718M,V1132A,V1187M,V1380M,V1583I,V246M,V279M,W981R,Y271H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 635 dbsnp18073 NP_001244956.1 G557V 0 165530 5281 dbsnp18075 NP_001244211.1 "I236V,Y238D" "0,0" 129563 2694 dbsnp18087;hgmd0613_2254 NP_596869.4 "C3665Y,P3751R,Q3944P,R3598K,R4064Q,S3536N,T3713S,T3770S,V4191M" "0,0,0,0,0,0,0,0,0" NGHFQFHYSADGTYELKINNLTESDQGEYVCEISGEGGTSKTNLQFMGQAFKSIHEKVSKISETKKSDQKTTESTVTRKTEPKAPEPISSKPVIVTGLQDTTVSSDSVAKFAVKATGEPRPTAIWTKDGKAITQGGKYKLSEDKGGFFLEIHKTDTSDSGLYTCTVKNSAGSVSSSCKLTIKAIKDTEAQKVSTQKTSEITPQKKAVVQEEISQKALRSEEIKMSEAKSQEKLALKEEASKVLISEEVKKSAATSLEKSIVHEEITKTSQASEEVRTHAEIKAFSTQMSINEGQRLVLKANIAGATDVKWVLNGVELTNSEEYRYGVSGSDQTLTIKQASHRDEGILTCISKTKEGIVKCQYDLTLSKELSDAPAFISQPRSQNINEGQNVLFTCEISGEPSPEIEWFKNNLPISISSNVSISRSRNVYSLEIRNASVSDSGKYTIKAKNFRGQCSATASLMVLPLVEEPSREVVLRTSGDTSLQGSFSSQSVQMSASKQEASFSSFSSSSASSMTEMKFASMSAQSMSSMQESFVEMSSSSFMGISNMTQLESSTSKMLKAGIRGIPPKIEALPSDISIDEGKVLTVACAFTGEPTPEVTWSCGGRKIHSQEQGRFHIENTDDLTTLIIMDVQKQDGGLYTLSLGNEFGSDSATVNIHIRSI 7273 0 dbsnp18090 NP_597681.3 "E3525K,G3580D,I3470T,S3396N,S3446F,S3473N" "0,0,0,0,0,0" 7273 0 dbsnp18101 NP_005712.1 "E160K,N135S" "0,0" 10096 8209 dbsnp18104 NP_872394.2 "A1270D,A1431T,A805T,C1008Y,C105F,D534H,D595G,E71G,E745Q,G1125E,H1668Q,H464R,K823M,K994Q,L1254F,L518F,M1044I,M1420K,M1627T,N957S,Q467H,R1146Q,R528G,S1680N,S1692N,T1530P,V1183L,V12L,V1339F,V1428L,V97L,W1646R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285190 121 dbsnp18106 NP_060688.1 "A1096T,C512R,G606E,K442Q,M887I,R1040K,R1042C,R1123C,R581Q,T1037M,V678A,Y171N" "0,0,0,0,0,0,0,0,0,0,0,0" 55230 1293 dbsnp18115 NP_596870.2 "A3471T,A4239V,A4375S,A4545T,C4831Y,C5387Y,D3669G,D3747G,D5226H,E4076K,E5101G,F3967L,F3990C,G3685D,G3825C,G4023R,G4361A,G4471A,H4338R,H4660Q,H4765Q,H4823Q,I3950T,I4327V,I4391V,I4449M,I4693T,K4493T,K4646E,L3732F,L4776S,M4621I,M4938V,M5491L,N5125S,P4349T,P4598S,P4650S,P5031S,P5334L,P5379S,Q4215L,Q4538H,Q4620P,Q4830R,R3549H,R3550Q,R3550W,R3615W,R4500K,R4915H,R5139M,R5192K,R5538H,S3692T,S3752T,S4367N,S4595T,S4982C,S5503T,T3532S,T3592I,T3914R,T5450S,V3964L,V3964M,V4248M,V4389I,V5443A,V5478M,W3686R,Y4052N,Y4418C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7273 0 dbsnp18124 NP_001185522.1 "A825V,A990V,D179E,D371H,E395Q,E495K,G1066E,G1149A,G118V,G33S,G479W,G560C,I1019V,I66V,K334N,K8N,L458V,N422K,N840I,N963D,P613A,Q544H,Q607H,Q976H,R127T,R555M,R569K,R637Q,S1056N,S270R,S274F,S362P,T1043A,T887A,V1042I,V533L,V932L,Y558C,Y945C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286749 1475 dbsnp18126 NP_115589.2 V337M 0 84173 8787 dbsnp18133 NP_775922.2 "A2435P,A516V,A543V,C2209Y,C3324Y,D1091H,D2154N,D2397V,D3711G,D5094E,D5209N,D5713G,E2221K,E2323D,E3194Q,E3822G,E4417G,E5258D,E5446D,F2373S,F2419S,F2533L,F3049L,F4452S,G3072S,G3809R,G3889E,H1512Y,H1893D,H4752Y,H5055Y,I1243T,I1930T,I2162T,I285V,I4532L,I4736V,I4819L,I514T,I5738T,I6589V,I847T,I908F,K2989E,K4408N,K4983I,K5822I,K6688N,L1776S,L1806P,L1882S,L2165M,L3733I,L3842I,L4443F,L4960R,L5380F,L6254Q,L729F,M1787T,M395V,M433L,M5057V,M898V,N3268S,N4020D,N5056I,N960S,N999S,P2853T,P3059L,P4217S,P534S,P6618T,Q2530K,Q5886R,R1377Q,R1470H,R2140C,R2588M,R327W,R3813I,R4327Q,R4603K,R502K,R5864Q,R6049H,R829H,S1116A,S1211C,S4193T,S5783F,S6022F,S970R,T1164I,T1435M,T1528R,T1765S,T1839S,T2281M,T3778A,T3804A,T3804M,T5515S,T6680I,T6819I,T6972A,V1327I,V1936F,V2033L,V2725A,V2725F,V3839F,V4003I,V4325I,V4787A,V6632L,Y5672N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401024 8 dbsnp18137 NP_001171866.1 F673C 0 57669 3759 dbsnp18142;hgmd0613_1744 NP_056126.1 "A1478V,A190G,A198E,D439N,E1217K,E1365D,G1284S,H530N,L1317Q,P1251L,P860S,Q1578R,R1113C,R1268Q,R1454Q,R368C,R723K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23363 490 dbsnp18143 NP_001166879.1 P997L 0 23363 490 dbsnp18159 NP_056495.3 "A314V,L51V,L54F,P366H,R34Q,S223F,S311R" "0,0,0,0,0,0,0" 27013 8383 dbsnp18160 NP_001182660.1 "A240T,A488G,D123H,E534K,E534Q,E536K,E537K,E537Q,H407Q,L500R,L550F,P403H,Q191R,R209W,R257Q,R274H,R280W,R317Q,R357C,R414H,R568H,S554G,V590M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79586 3406 dbsnp18166 NP_001243655.1 "A367S,K315R,K91E,P38L,R100Q,R440H,R456I" "0,0,0,0,0,0,0" 10713 5621 dbsnp1817 NP_116070.2 "A188T,A333V,C382R,E161G,E375G,F447Y,L23I,M144L,M1V,N20S,N436D,P435T,Q334P,R83Q,S87N,T58K,V420M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84767 7546 dbsnp18175 NP_001073594.1 "K14R,M1T" "0,0" 841 6024 dbsnp18186 NP_001020279.1 "A737T,D705N,D853N,D997H,H914Q,N213S,N519S,R1211Q,R986K,S979C,V216A,V525L" "0,0,0,0,0,0,0,0,0,0,0,0" 3899 1277 dbsnp1819 NP_001230153.1 M1V 0 5883 8769 dbsnp18192 NP_001116105.1 I5F 0 1373 326 dbsnp18209 NP_055935.4 "A363V,C2345S,C2427S,D2156G,D260E,D2674H,D2678A,D3125N,E786G,G1416A,G2181R,G3757S,G3898S,G3942S,H3854Q,H3854Y,H625R,I1877V,I2004V,I2072T,I486V,K1655N,K1812N,K3436E,K3436R,L3791V,L527P,N1788D,N2424S,N2858S,N2946K,N3306S,P1104A,P2186S,P225H,P2692H,P3991A,P646A,Q1086H,R1930Q,R2286P,R2510W,R2828S,R3239C,R393C,R4031K,R4059H,R4059P,R4147Q,S2102L,S2113R,S2576N,S3151N,S3505C,S3686N,T2310M,T3207I,T3544S,T3758S,T383A,T542K,V2748G,V2995I,V2995L,V3978M,V424I,V673G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7840 69 dbsnp18210 NP_997195.1 "A150T,A374V,G416R,I114N,R121W,R156W,R221S,R264G,R339C,R390H,T109S,V323M,W346C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 112714 7568 dbsnp18215 NP_005671.2 "D273E,D412H,H327L,H327Q,I306T,L556I,M256V,S323N,V450M" "0,0,0,0,0,0,0,0,0" 9014 5298 dbsnp18220;dbsnp18221 NP_006560.3;NP_001159711.1 "A100G,A146T,E151G,E226G,E249K,E295K,G144R,G243E,H149Y,I116M,K174R,K232E,K232N,P293T,T5M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10669 10457 dbsnp18229 NP_001157979.1 "A1400T,A1579T,A1804E,A2130D,A8145P,A8451V,C3042R,D2730G,D3910G,D6175N,D6731V,D7088N,D7229H,D7286N,D7374E,E1469D,E191Q,E7147Q,G1833A,G3289S,G7635E,H1301D,H1991Y,H3047N,I3292T,I3661F,I5557V,I5581V,I8020V,I8402V,K1027N,K1550R,K2613N,K4543T,K5029T,K5515T,K7867Q,K837R,M1852R,M2023I,M3061L,M3716I,M6584R,N1138D,N1198S,N6038S,P24L,P5972L,P8019L,R1856Q,R2437Q,R2773Q,R2934H,R5541H,R6102T,R633S,R7114W,R7164P,S2542P,S2912P,S5588T,S6366I,S7015C,S7794L,T119A,T6693I,T7832I,T8456M,V1479I,V1491M,V1701A,V2376L,V5945I,V8014I,W3603C,Y1064C,Y1969H,Y773C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4703 3 dbsnp1823 NP_001241680.1 H440Q 0 923 4395 dbsnp18230 NP_001157980.1 C7119Y 0 4703 3 dbsnp18236 NP_057336.3 "A2566T,A3622V,C4813S,D4818G,E3242V,E4428D,E4765G,E4836D,E617K,G4833D,H560P,I1817V,I3678V,K1416T,L3603V,L3798R,N1541Y,N4207S,N4352Y,P1735A,P1736L,Q1343L,Q605R,Q808R,R1390H,R3756H,S1370P,S2106L,S2857C,S3641G,S482G,T2282I,T2305K,T2674S,T3736N,T4014I,T894M,V1732I,V4462I,Y1879C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57448 38 dbsnp18249 NP_057199.1 "A273T,E157D,I407L,I456T,L30V,N206S,R27K,R445H,R445L,R478C,S12C,S196G,S359L,S486G,V228M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51130 5762 dbsnp18251 NP_001157637.1 "A311T,E195D,I445L,I494T,L68V,N244S,R483H,R483L,R516C,R65K,S234G,S397L,S50C,S524G,V266M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100302652 5762 dbsnp18254;dbsnp18255 NP_002700.1;NP_996759.1 Q67H 0 5500 9884 dbsnp18257 NP_001159403.1 "C34R,S59A" "0,0" 6241 7615 dbsnp18259 NP_001035739.1 "P79L,T95I" "0,0" 52 13761 dbsnp18269 NP_001159713.1 "G61S,M66V" "0,0" 10669 10457 dbsnp18276 NP_001361.1 "A1301T,A2541V,A2908T,A975V,D3718A,E717G,G1694A,G2441S,G3433R,G3961R,H151L,H3471Q,H55Y,I1365V,I1695V,I2113T,I254S,I2849V,I674V,K2859R,L1604V,L51P,M1232V,M1597I,M2168L,M697L,N3086T,N3854S,N3907T,N847S,P3414L,P3429L,P687T,Q756L,R1153G,R1294H,R1331H,R136Q,R1509H,R3342H,R380C,R4140Q,R473Q,R612C,R689L,S1369R,S145C,S2012Y,S2268N,S2666Y,S3881T,S462L,T3776P,T4025P,T727A,V141M,V2092M,V2511M,V2550A,V2560L,V2615M,V2874L,V2898I,Y1789C,Y2119C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1768 70 dbsnp18288 NP_002340.2 "A1148S,A1154V,A495T,A495V,A848V,D504N,D520Y,E1463Q,E519D,E633K,G525E,H1183Y,H400N,K109Q,K1647N,L654F,L654V,L847F,M105T,M1308V,N1320S,N1535S,N1535T,N214D,P1247L,P897T,P988L,R1538W,R1705P,R1705Q,R360C,R676Q,R731H,R763Q,R796H,R890Q,S1134G,S1159F,S1236G,S1636G,S977R,T1000I,T1032M,T459M,T732S,T784A,V1231I,V969M,Y1033H,Y116C,Y373C,Y941H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4065 508 dbsnp18290 NP_001185688.1 "A1148S,A1154V,A495T,A495V,A848V,D504N,D520Y,D692N,D807E,D884A,E1463Q,E268D,E519D,E633K,G525E,H1183Y,H400N,K109Q,K1321N,K1347R,K1647N,L654F,L654V,L847F,M105T,M1308V,N1320S,N1535S,N1535T,N214D,P1247L,P1853A,P897T,P988L,R1538W,R1841S,R360C,R676Q,R731H,R763Q,R796H,R890Q,S1134G,S1159F,S1236G,S1636G,S977R,T1000I,T1032M,T1393I,T459M,T732S,T784A,V1231I,V666A,V969M,W20R,Y1033H,Y116C,Y1391H,Y373C,Y941H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100526664 508 dbsnp18294 NP_061921.1 "A358G,N104S,R442K,S227L,S34N,T315M,V401F" "0,0,0,0,0,0,0" 54529 4665 dbsnp18296 NP_001138594.1 "D520N,F582L,I134S,K510N,N312S,R119W,R410G,R601C,R601H,T319M,T325A,V120I,V283M,V626I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440854 4237 dbsnp18297 NP_001239053.1 "G1124V,R1130W" "0,0" 23178 1108 dbsnp18298 NP_476518.4 "H249Q,I122T,K317R,L165P,M200K,N623D,N935K,P1076H,P700A,P700T,R192K,S658C,T866I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 117583 1403 dbsnp183 NP_001240783.1 "A391S,C280S,L4F,M1L,Q191R,V211F" "0,0,0,0,0,0" 9576 6480 dbsnp1830 NP_008968.4 "A145G,A525V,E78D,G605R,N264S,R442C,R620G,R620W,T792A,V391M" "0,0,0,0,0,0,0,0,0,0" 11095 2252 dbsnp18309 NP_001136279.1 "A294V,E107K,F194L,H455Q,L184M,P505L,R264Q,R264W,R412C,R412H,R418Q,R418W,S219L,S238L,T109A,T255M,V415F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55289 5414 dbsnp18311 NP_001074293.1 "P381L,R143C,R143H,R296H,R379Q" "0,0,0,0,0" 129293 6372 dbsnp18314 NP_001137431.1 "A56G,G134S,I15V,I23T,T182A,Y37D" "0,0,0,0,0,0" 339804 13111 dbsnp18315 NP_001116118.2 "C367F,D160E,E152K,H262P,I99M,L536P,P242A,P70T,R217Q,R464H,R645C,V55A" "0,0,0,0,0,0,0,0,0,0,0,0" 51252 3050 dbsnp1832 NP_569056.4 "A37T,A79T,D396Y,E418K,E9G,L296F,L865V,P195S,P228S,Q361H,R513S,S328N,T302A,T764I,V125L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10335 2544 dbsnp18327 NP_001186913.1 L10P 0 4719 3690 dbsnp1833 NP_001092049.2 I11V 0 10335 2544 dbsnp18333 NP_996826.2 "A238T,A452V,C1636F,D1280N,D1605E,E146K,E246K,G1223R,G1223S,H835N,I1235V,I564T,I899M,L939F,M947T,N1004D,N1004H,N1366S,N1513S,P1009Q,P1072L,P1707L,P275L,P803A,P804S,Q1021H,Q1021L,Q1117K,Q542H,Q631H,R1030Q,R1330Q,R1445W,R1672Q,S1266F,S1415A,T831A,V1535M,V308A,V308L,V495I,V619I,V750I,V765I,Y1272C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4052 618 dbsnp18343 NP_116758.1 P254L 1 843 6247 dbsnp18362 NP_001180416.1 "A252V,A87V,G328E,I281V,N102I,N225D,Q238H,S318N,T149A,T305A,V194L,V304I,Y207C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 11036 1475 dbsnp18373 NP_057431.2 "A31P,G112A,K80N,L132S,R136W,R166Q,R23G,R7C,S143C,V119L,V127I" "0,0,0,0,0,0,0,0,0,0,0" 51471 12392 dbsnp18374 XP_001724294.4 "A276V,A609V,A81S,C20F,C412S,C592Y,D428E,E122V,E2G,E449G,E477K,F551L,F97L,G216E,G336R,G420V,G432R,G53S,H230R,H330N,I116S,K113T,K127Q,K219N,K617E,L355F,M166V,N557D,P14L,P411L,R134Q,R242C,R614H,V301A,V329I,V61A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 646915 4680 dbsnp18383 NP_001138641.1 N981D 0 165082 1785 dbsnp18387 NP_001171508.1 "A336P,E230D,E5D,G597S,H238N,K621R,L605R,Q748K,R64T,S513N,S638F,S94G,T362A,T430A,V284M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57628 2798 dbsnp18392 NP_001171441.1 D268H 0 5212 4137 dbsnp18393 NP_444506.2 "A263V,A640V,F540C,G268R,G344S,H673Y,K570R,K61N,L574I,Q293R,S689L,T547A" "0,0,0,0,0,0,0,0,0,0,0,0" 5212 4137 dbsnp18394 NP_001171440.1 G268R 0 5212 4137 dbsnp18397 NP_001107604.1 "A385T,A591S,D603N,E526G,F2314L,G2499S,I1216V,I1626V,I2330V,I867V,I952T,K1079N,N2353S,N331D,N827T,P1391L,Q2292E,R1119H,R1241G,R2663H,R287C,S1186L,S459C,T112N,T2492A,T652M,T959A,V2233I,V224I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65065 195 dbsnp184 NP_443723.2 "A222E,A767S,A918T,C426W,D612V,E870V,E920K,G581E,I614V,K604Q,K860E,K861E,K861N,L609W,N865Y,Q621E,R411M,R429G,R429L,R929C,T1186P,T125M,T555A,T85M,V1150L,V862A,V862D,V912I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91074 984 dbsnp18410 NP_060362.3 "D106E,Y519C" "0,0" 55660 2433 dbsnp18411 NP_001139136.1 "E155K,G354S,L161V,L176V,M185L,M412T,P19L,P458S,S38Y,T85S,V173I,Y57F" "0,0,0,0,0,0,0,0,0,0,0,0" 731220 7157 dbsnp18417 NP_001193807.1 E13K 0 58190 11338 dbsnp18420 NP_757362.1 "H17Q,I213V,P61L,R196Q,R198G,R203H,R51C,R58H,V180I" "0,0,0,0,0,0,0,0,0" 926 12066 dbsnp18423 NP_001144.1 "D35H,E229Q,G184E,I301L,S137R,S259L,T87M,V315F" "0,0,0,0,0,0,0,0" 307 6560 dbsnp1843 NP_955450.2 "A371E,E133D,G514R,I107M,I65V,T245I,T465S,T85A" "0,0,0,0,0,0,0,0" 5547 6368 dbsnp18445 NP_001230829.1 "D1059E,E287D,G28R,N385S,N408T,P339A,R700H,S674L,T14S,T64A,V265I,V800G,V954I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3069 1236 dbsnp18448 NP_001138471.1 "A343V,G449A,G998R,I359V,I628V,R17W,R971K,S502A,S506F,V883I,V964G" "0,0,0,0,0,0,0,0,0,0,0" 3685 1905 dbsnp18453;dbsnp18454 NP_001006947.1;NP_002988.3 "A116T,A26P,E84D,G217E,G241R,G82S,H154N,M278I,P159H,T144M,T68M,V25L" "0,0,0,0,0,0,0,0,0,0,0,0" 6382 10649 dbsnp18456 NP_006440.2 "I214T,K215R,Q77H,S225A,T127I,V148I" "0,0,0,0,0,0" 10602 11832 dbsnp1846 NP_001231595.1 "C321S,C321Y,K69R,M1V,P51L,Q72H,R121C,R158S,T108S" "0,0,0,0,0,0,0,0,0" 6811 9539 dbsnp1847 NP_000795.2 "A231V,C105Y,R98C,S180P" "0,0,0,0" 2352 11758 dbsnp18472 NP_940984.3 "A213V,A490G,D9N,G49S,T36A,T99K,V204M,V392M" "0,0,0,0,0,0,0,0" 377007 5453 dbsnp18481 NP_620712.2 "C122S,D88N,I104T,N169S,Q96E,R186S,W142C" "0,0,0,0,0,0,0" 130560 13147 dbsnp18487 NP_003575.2 "A296V,D36G,V220M,Y336C,Y336S" "0,0,0,0,0" 8446 9056 dbsnp1849 NP_001245300.1 "A281V,A624T,C301Y,D759N,E678A,E803Q,E899V,P290L,P79Q,R242Q,R551Q,R829Q,R846C,R902C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89 2368 dbsnp18490 NP_919303.1 "I23S,L22P" "0,0" 9381 426 dbsnp1850 NP_001137307.1 "H1125R,I1105V,K1043R,L261F,L284F,L346F,L370I,N97S,P345H,P767S,Q139R,R171Q,S741L,T906M,V909I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4798 1120 dbsnp18509 NP_001599.1 "G241A,G280A,H228R,I47T,R267W,T38I" "0,0,0,0,0,0" 33 7943 dbsnp18513 NP_065865.1 "A362T,P390S,S263L" "0,0,0" 57574 8395 dbsnp18515 NP_001035800.1 D10G 0 653140 12832 dbsnp18517 NP_001240756.1 "A27T,R48C,R48S,V49I" "0,0,0,0" 79623 5744 dbsnp18518 NP_001240755.1 A58V 0 79623 5744 dbsnp18519 NP_056337.1 F184Y 0 51626 9613 dbsnp18524 NP_001129069.1 "E671D,E979D,I763T,K1188R,K1853E,L1500V,N512D,R290S,R371H,S1660P,T1773A,V1695I,V1807M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55704 510 dbsnp18538 NP_001001666.1 R158H 0 50636 2415 dbsnp18561 NP_115993.3 "A50G,A50V,M373I,P330S,S135N,V348I,Y372C" "0,0,0,0,0,0,0" 84696 8491 dbsnp18563 NP_006479.1 V83M 0 3795 10905 dbsnp18582 NP_001007090.3 "A175T,E30D,E53K,L215I,V105L" "0,0,0,0,0" 389075 12377 dbsnp18585 NP_001157787.1 "A1068D,A1096S,A1111T,A898D,D1236N,D561Y,D912Y,E1823G,E253K,E888Q,G197V,I1451V,K34N,K386E,K910E,L1452I,L825S,M1144T,N769K,P1126Q,R226G,S1022F,S732P,T1066S,V1157M,W1280G,W621R,Y1082D,Y1082H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375248 459 dbsnp18586 NP_852118.1 "D79G,E1279K,E1608G,E332G,E853G,H124R,H1280Y,H422R,K1597R,N694T,P62R,R1669H,S20F,T1120S,T593S,T649P,Y1019C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9648 658 dbsnp18587 NP_742000.1 "A218V,A8V,C110Y,G106S" "0,0,0,0" 150472 8682 dbsnp18591 NP_997211.2 "G19D,K473Q,R502W,R520C,R637W,R692C,S636F" "0,0,0,0,0,0,0" 150763 3251 dbsnp18592 NP_001093241.1 "A11P,C35Y,D887E,E867D,G973D,I1069T,I211T,I329V,L323P,P886T,Q339K,T45A,T809P,T894I,V796A,V803I,V834M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 728378 1801 dbsnp18593 NP_060221.2 "A734V,D401G,F455V,F4L,F536L,G675R,I711M,K424N,L36P,N174S,P128T,P256L,P529L,Q392E,Q573E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55627 2795 dbsnp18599 NP_783862.2 "E86K,G137S,I14L,R34C,T149A" "0,0,0,0,0" 254773 12703 dbsnp18600 NP_001229504.1 "A61T,H83R,R64W,S42F,T103M,V3L" "0,0,0,0,0,0" 100130451 14035 dbsnp18601 NP_775297.1 "N28S,P24R" "0,0" 27178 12571 dbsnp18603 NP_775294.1 "N33S,P29R" "0,0" 27178 12571 dbsnp18607;hgmd0613_647 NP_001077415.1 "G8D,H259R,P39A,Q166K,Q343R,R136Q,R17H,R45Q" "0,0,0,0,0,0,0,0" 55471 7740 dbsnp18616 NP_060229.3 "A358V,A364V,H585R,N605D,R299Q" "0,0,0,0,0" 54891 1994 dbsnp18617 NP_714923.1 "A133T,D171H,E143K" "0,0,0" 150465 9057 dbsnp18631 NP_057594.4 "A183T,A19S,A223S,A317V,A447V,F284S,G401R,I188V,I94M,K60E,R220C,R298W,R77G,R77I,V334I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51540 7538 dbsnp18634 NP_003301.1 "D316N,P74L,R326H,S112P" "0,0,0,0" 7260 8862 dbsnp18635 NP_001131022.1 "L520P,R163L" "0,0" 9208 3154 dbsnp18642 NP_001171488.1 "A49V,D100N,G147R,M132V,R105W,T112M" "0,0,0,0,0,0" 1622 13961 dbsnp1865 NP_006543.1 "A19V,A55V,A85T,C15F,E54K,N20T,R18Q,Y17H" "0,0,0,0,0,0,0,0" 10648 14751 dbsnp18679 NP_055840.2 "D115E,R358C,T732P,V80L" "0,0,0,0" 23040 1471 dbsnp18682 NP_689594.4 "A3085T,E158K,E2556K,E2965G,F3510L,G1839D,G2903D,G3377E,H2770Y,H3282R,I1223T,I1572T,I1663T,I3015T,I3197V,K3045E,L1624F,L2598R,M1T,M2362I,N2008S,N3363S,P252S,P625A,R1705H,R1801H,R2242Q,R2619Q,S2728N,S3279P,S472P,T1318P,T1690I,T1844I,T2094R,T351I,T836I,V1162I,V2782I,Y3150C,Y632H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 129446 2234 dbsnp18683 NP_001073278.1 "E158K,E905Q,K424T,M1T,P252S,R757G,R914T,T351I,V885G" "0,0,0,0,0,0,0,0,0" 129446 2234 dbsnp18689 NP_056163.1 "D1359N,D1479V,D436V,I1123V,P1316L,P1508R,Q1521R,R1334C,T370M,V1791D" "0,0,0,0,0,0,0,0,0,0" 23505 502 dbsnp18690 NP_055697.1 "A130V,C147Y,E246K,E541K,E542G,E637K,G503A,M549T,N586S,P505S,R185W,R548S,R554Q,R608H,S415G,S526R,V498I,V578I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9938 4630 dbsnp18694 NP_009197.2 "D335E,H58Y,M129T,M313R,P33S,Q224H,R12K,R385I,R85G" "0,0,0,0,0,0,0,0,0" 11321 8839 dbsnp18695;dbsnp18696 NP_001182310.1;NP_001182311.1 "A273T,A317V,A56T,E283G,G157R,L58S,N200D,R13H,R156S,R244C,R87C,S325R,T139M,T284M,T45S,V107M,V28I,V322M,V60I,Y55F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2859 9915 dbsnp18699 NP_079415.3 "A497V,D600N,D604G,D647Y,D88E,E123K,I209T,I242T,I4V,R222H,R549C,R636W,S170A,T475M,V386M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80210 3104 dbsnp18709 NP_982261.2 "D233G,D590N,E301K,E324K,F47L,G196E,G41D,H64R,I181S,N550S,N550Y,R599Q,S216R,S226N,S340P,S866N,S929R,T620A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54812 2399 dbsnp18713 NP_075571.1 "G179S,L474M,P200T,P320L,P95L,R139C,R209W,R395W,R555C,S363R,S613N,T504A,V582A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 11132 4353 dbsnp18714 NP_075573.2 V427A 0 11132 4353 dbsnp1872 NP_620591.3 "A56P,C103W,C227Y,C262Y,C275R,G137V,M91T,Q256L,Q59P,R143Q,R164C,R164H,R307H,R307L,R6Q,V77M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10077 10399 dbsnp18724 NP_060314.2 V79I 0 51281 2389 dbsnp18726 NP_001185880.1 R3Q 0 7844 4220 dbsnp18734 NP_001095937.1 "A116V,A44V,F51C,R130H,R23Q,T129M,T16A,T74S,V85F" "0,0,0,0,0,0,0,0,0" 653437 10724 dbsnp18736 NP_001231605.1 "A80G,C44Y,D364E,D78N,E366K,G386E,G41E,L49H,M368T,R94G,T121A,T204N,T243M,T48A,V108I,Y23C,Y320H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55258 6932 dbsnp18739 NP_065986.2 "A470T,R317K,R976H,S134T,S333F,S663T,S888L,T323A" "0,0,0,0,0,0,0,0" 57695 2189 dbsnp1873;hgmd0613_2068 NP_077744.3 "A199T,C350R,P249S" "1,0,1" 7490 6369 dbsnp18742 XP_003118566.1 "A1379V,A1433T,A1460V,A1498V,A159T,A461V,A602S,E122K,E1239K,E375K,E528K,E935K,G1131R,G1157E,G135D,G1520R,G1539R,G552R,G569E,G72R,I1356V,L222V,L970F,P1326Q,Q1006R,Q292R,R1012Q,R1023Q,R1135L,R1139Q,R1281Q,R1281W,R1287H,R1365Q,R1384Q,R1566Q,R396Q,R410G,R516Q,R544H,R891Q,S1579G,T406N,V1445M,V334M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 742 dbsnp18747 NP_982288.1 "A6S,A6T,L178F,L237V,P157S,P62R,Q119E,R111Q" "0,0,0,0,0,0,0,0" 253782 8753 dbsnp18758 NP_683701.2 R407Q 0 9687 452 dbsnp18761 NP_653314.2 "A506V,C117G,D234Y,E299K,F120L,G106A,G259D,H260Y,I203V,I474V,I500M,K511R,L313F,N233K,N233S,N523S,P251L,R123C,R351C,R368C,R368H,R382H,S341G,T194S,T274I,Y182C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151393 5520 dbsnp18762 NP_055504.2 "A159V,G570R,H1756D,I1252M,K389R,L1407F,M1339T,P1785Q,P416L,P641T,Q1507E,R90H,S1035C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55619 344 dbsnp18769 NP_001073896.1 "D472E,E387K,G1069D,G609E,G790S,H256Y,H678Y,K1472R,L118P,M284I,Q959K,R113L,R1314H,R322H,R692Q,S1309Y,S1409T,S548L,S783Y,T1560P,T209I,T481M,T577M,V123A,V1426I,V554I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80731 756 dbsnp18781 NP_872327.2 "C265Y,D297N,D486E,F537Y,G100A,H607Y,I106V,I302T,I302V,K223R,K287E,L226M,M544V,P241S,P392T,P455R,R4Q,R543W,R55P,S407C,V82I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151112 4766 dbsnp18799 NP_060906.3 "C290R,F121C,G109V,T110I" "0,0,0,0" 55821 8788 dbsnp1880 NP_055622.3 "A326S,A326T,E112K,K526R,K96R,M177T,R287W,R413W" "0,0,0,0,0,0,0,0" 9854 4017 dbsnp18801 NP_001188472.1 Q556E 0 84140 3911 dbsnp18803 NP_001240805.1 "C74G,S124Y" "0,0" 80146 8048 dbsnp18808 NP_001155879.1 P19R 0 1195 4713 dbsnp1881 NP_064613.2 "A22T,A991P,A991T,D118N,D141N,D172N,E444D,L1004S,P119S,P837L,Q1037P,Q976P,R129G,R599H,S1018T,S1093L,T279M,T573A,T59S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56980 1525 dbsnp18810 NP_689602.2 V161M 0 255101 466 dbsnp18815 XP_003403554.1 "E111K,E90K,L106I,N88S,P61R" "0,0,0,0,0" - 14507 dbsnp18817 NP_036232.2 "I171V,L230V,N50H,R453W,S228L" "0,0,0,0,0" 23549 6924 dbsnp18820 NP_001161693.1 "A456S,A48V,C148Y,D421E,E362K,E370A,E848K,G1193E,H1218D,H1350L,H376Q,I341V,K1439E,L1228P,L1302P,M330T,N1043K,N1077I,N116S,N154S,N633S,N784S,N890S,N893S,P1773L,P289R,P460S,Q1326H,R1134C,R1789C,R1812Q,R326G,R473K,S1526F,S1804P,S764N,T282I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151254 549 dbsnp18822 XP_001717815.3 "C1893S,D1068N,D1236N,D1413E,D1868N,D1919Y,D558N,D561Y,E1001K,E1920D,F1925L,G1279S,G501V,H1082Y,H1415L,I1914M,I1914T,I600T,K1115Q,K1448E,K842R,L1005V,L1452I,L1478V,L506P,L734S,M1897V,N1041Y,N421T,N973Y,P615L,Q1187P,R1019K,R1019S,R786W,R806T,S492R,T1591M,V1303I,V1909A,Y1014N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 459 dbsnp18823 XP_003118905.1 "C1317S,D1292N,D1343Y,D280N,D283Y,D518N,D837E,E1344D,F1349L,G703S,H532Y,H839L,I1338M,I1338T,I322T,K872E,L876I,L902V,M1321V,N491Y,P337L,Q603P,T1015M,V1333A,V727I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 459 dbsnp18825 NP_001008779.1 "I286T,I286V,R36H,W43R" "0,0,0,0" 245711 10594 dbsnp1883 NP_955470.1 A3T 0 56980 1525 dbsnp18833 NP_997404.1 "D151V,I118N,R186Q,S97L,V108I" "0,0,0,0,0" 57142 1441 dbsnp18835 NP_598407.1 "D385V,S364N" "0,0" 51776 3215 dbsnp18836 NP_006627.2 A62T 0 10797 9672 dbsnp18837 NP_612209.1 "A104T,A152V,G147S,G180R,G91A,I216L,R121W" "0,0,0,0,0,0,0" 150678 11879 dbsnp18841 NP_115544.1 "A325T,A729S,E166K,E166V,E712K,F746S,G266A,G267S,K159R,K554N,L402F,L575V,L699F,M1K,P459R,P737S,T413I,T44A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84128 3035 dbsnp18845 NP_001165108.1 S285T 0 130940 5257 dbsnp18847 NP_115861.1 P48L 0 53938 13633 dbsnp18850 NP_001242916.1 "C11S,P6R" "0,0" 78989 11199 dbsnp18852 NP_001242915.1 "C11S,P6R,T38M" "0,0,0" 78989 11199 dbsnp18857 NP_954705.1 "P26L,Q64R,R35W,R78H,S9L" "0,0,0,0,0" 78989 11199 dbsnp18866 NP_001027452.1 T215K 0 7035 10772 dbsnp18869;dbsnp18870;dbsnp18871 NP_001121685.1;NP_689741.2;NP_001121684.1 "C103S,C103Y,F328S,G199D,I34V,I390V,M301V,Q344R,R204Q,R394K,S428L,T120N,V305M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 151525 7079 dbsnp18884 NP_055715.3 "A318T,A352V,A801V,C421R,E1043A,E419K,F240V,G1165R,I176V,K971N,L502F,M514V,M595V,N939D,P847L,S783P,S963F,T202I,T871I,V1103G,V327M,Y793C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22837 1511 dbsnp1889 NP_001165439.1 "A121V,A367T,A589T,A601P,A681T,A767V,D389N,D830N,G530S,G592S,G610S,G623S,I131L,K538E,P507S,P515S,P570A,P637L,P639S,P828L,Q543R,R182H,R357S,R365C,R402Q,R760G,T766M,V112M,V371I,V432I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 53841 2930 dbsnp18898;dbsnp18899;dbsnp18900 NP_002571.1;NP_620355.1;NP_620354.1 "A147V,D63Y,D65E,H50P,T62I" "0,0,0,0,0" 5068 13463 dbsnp18902;dbsnp18903;dbsnp18904 NP_056350.2;NP_001093893.1;NP_001093892.1 "A346T,A93G,G150D,R436K,R473K,R509W" "0,0,0,0,0,0" 26010 5725 dbsnp18905 NP_001078834.1 "E19K,G50A,H127R,R133T,R136H" "0,0,0,0,0" 653784 13764 dbsnp18909 NP_001073973.2 "A845D,D53H,N893H,Q719E,R420G,S92G" "0,0,0,0,0,0" 375316 1892 dbsnp18913 NP_127462.1 A646P 0 50649 1211 dbsnp18914 NP_001027549.1 "A23T,G125S,I100M,K258M,K258R,K50E,L112F,P119A,R102Q,R143S,R221H,R221L,R221P,V37D,Y124C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391365 10793 dbsnp18915 NP_001193731.1 "P228S,T230A" "0,0" 9540 10090 dbsnp18920 NP_775919.3 "A10V,A141V,A901T,C200F,C35Y,D235E,D402G,D767N,E1026K,E1174K,E1174Q,E382D,E905K,G427S,K1037N,L1080S,L872V,M432R,M522V,N1170S,N728S,P1064L,P1128L,P707S,P7L,Q1407K,Q256E,Q507H,R222H,R828Q,R828W,R883S,R935W,S605L,S896R,T1150K,V1387A,V1457I,V1498M,V261L,V534I,Y102C,Y556C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285025 794 dbsnp18926 NP_001161689.1 "G540S,N528S" "0,0" 151254 549 dbsnp18928 NP_001092804.1 S92Y 0 389073 13120 dbsnp18939 NP_056132.1 "A332V,L107S,L40I,N367S,R110Q" "0,0,0,0,0" 23369 1459 dbsnp18940 NP_001005476.1 "A280T,A707V,D1084V,D360G,D360Y,D604G,E754G,G923S,P89S,Q110R,R104T,R1080K,R1133Q,R324Q,R795K,S781C,T319M,T727M,Y723C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8502 1442 dbsnp18943 NP_219484.1 "E141K,E27K,E291K,I258V,M257V,P155L,P210S,R126Q,R240H,R259H,R48Q" "0,0,0,0,0,0,0,0,0,0,0" 92856 11087 dbsnp18945 NP_001070867.1 G82S 0 25953 8885 dbsnp18946 NP_055528.1 "R18W,V195L" "0,0" 9741 12281 dbsnp18947 NP_060347.2 "D162Y,R348Q" "0,0" 54978 9188 dbsnp18950 NP_002697.1 "A18T,D381N,E178K,F237C,Q161E,Y157C" "0,0,0,0,0,0" 5495 7029 dbsnp18952 NP_004795.1 "G73S,I244V,N228S,R216H,R65W" "0,0,0,0,0" 9391 9935 dbsnp18953 NP_002157.2 S9F 0 3398 14191 dbsnp18959;dbsnp18960;dbsnp18961 NP_001950.1;NP_066944.1;NP_001032752.1 "G89R,V29M" "0,0" 1933 4623 dbsnp1895;dbsnp1896 NP_001073004.1;NP_443750.2 "A272V,E156D,E156K,E56G,G11S,I224S,L288F,R139Q,R139W,R177H,R266M,S271T,T116K,T203A,T284K,Y249H,Y39C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116969 11079 dbsnp18974 NP_689604.1 "A147V,P62Q,R193C,R195Q,V90M" "0,0,0,0,0" 130814 12925 dbsnp18976 NP_002362.1 "A95S,G79S,I70V,T20I,Y91H" "0,0,0,0,0" 4118 13870 dbsnp18978 NP_064507.3 "D127A,Q185E" "0,0" 56888 8962 dbsnp18979 NP_005908.1 "D256N,P45H" "0,0" 4190 9614 dbsnp18981 NP_054890.1 S63N 0 9419 14637 dbsnp18982 NP_620157.1 "G45V,L228V,P71H,R143W,R247C,S246N" "0,0,0,0,0,0" 130617 11774 dbsnp18984 NP_001006623.1 "I310V,P262A,R274Q,Y280C" "0,0,0,0" 55339 1094 dbsnp18988 NP_001171571.1 T195I 0 926 12066 dbsnp19000 NP_001073943.1 "E310K,I380T,I392V,K592N,L726M,P404S,Q728K,S535G,S567I" "0,0,0,0,0,0,0,0,0" 388960 2486 dbsnp19010 XP_001721897.2 "G119R,G188R,R121P,S112R" "0,0,0,0" 100128905 12728 dbsnp19011 NP_008977.1 "E335D,E590K,L72V,R541Q,S268G,S769G,V755M,V860L,V906M" "0,0,0,0,0,0,0,0,0" 11117 2044 dbsnp19016 NP_001073942.1 "A36D,A60T,N226D,R256Q,T192S" "0,0,0,0,0" 388931 6721 dbsnp19017 NP_149055.1 "E109K,V511L" "0,0" 58538 4722 dbsnp19019 NP_443137.2 "M504T,P569L,Y352C" "0,0,0" 114793 1713 dbsnp19022 NP_001139182.1 "E223K,E38Q,G177D,K73N,P315L" "0,0,0,0,0" 375190 10305 dbsnp19026;dbsnp19027 NP_001028217.1;NP_689742.4 "D33E,I206T,T19P,T263M,T66A,V496I" "0,0,0,0,0,0" 151556 2774 dbsnp19030 NP_060259.4 "E598K,E693V,I329V,M142T,P576R,P763L,P92S,R242Q,R593Q,S602T,V665M" "0,0,0,0,0,0,0,0,0,0,0" 54910 3019 dbsnp19031 NP_001230937.1 "R938Q,S869R" "0,0" 547 552 dbsnp19032 NP_002184.2 "E76Q,G209S,Y202C" "0,0,0" 3625 8450 dbsnp19035 NP_001138523.1 "A14V,A83V,E154K,M8I,R142Q,T95A,V134A" "0,0,0,0,0,0,0" 388946 12559 dbsnp19036 NP_055368.1 "A53D,D391H,I99V,P247A,P271L,Q388R,R43C,V263M,Y265C" "0,0,0,0,0,0,0,0,0" 29842 7030 dbsnp19047;dbsnp19049 NP_001189448.1;NP_001189447.1 G359R 0 8837 7000 dbsnp19055 XP_209489.4 "C28R,D141N,E147K,E22K,N58H,S140G" "0,0,0,0,0,0" 285141 13806 dbsnp19056 NP_001231817.1 "R371H,R373C,Y364C" "0,0,0" 116987 2557 dbsnp19059 NP_612477.3 "C124G,E96K,F403L,I80V,L260P,M166I,Q171H,Q303H,R396Q,S326Y,T266M" "0,0,0,0,0,0,0,0,0,0,0" 130026 6971 dbsnp19063 NP_001157935.1 "A1128T,D7E,T1051I,V1541G" "0,0,0,0" 727851 121 dbsnp19065 NP_116168.3 "E163Q,E253K,E533V,G294W,G694D,H730P,L385R,P196L,P401S,P690L,P741L,Q30P,Q481E,R237G,R40C,R527Q,S233P,T548N,V549L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84865 3609 dbsnp19066 NP_859064.2 "D77N,G19V,H259Q,S125F,V74I" "0,0,0,0,0" 165324 11732 dbsnp19067 NP_079540.2 "A220T,A490V,C493G,C55S,D418N,F465L,I155M,I197T,M290V,N427S,P436T,R415P,S501P" "0,0,0,0,0,0,0,0,0,0,0,0,0" 80745 6609 dbsnp19068 NP_940885.2 "C72R,D196N,D196V,G379R,L539H,Q119H,Q394R,R102H,R111C,R238M,R327K,R431H,R64Q,R89H,Y152C,Y552C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285180 5542 dbsnp19084 NP_002798.2 "E164A,E824K,I908V,M695I,R269Q,R559K,S635N,T299I,V636I" "0,0,0,0,0,0,0,0,0" 5707 2324 dbsnp19086;hgmd0613_2275 NP_620072.1 G17V 0 9378 627 dbsnp19091 NP_054900.2 "D15N,D165N,I128F,V31M" "0,0,0,0" 29094 13518 dbsnp19092 NP_115895.2 "A427G,A674T,C123R,G685S,K589E,L700F,R275C,R318Q,S60I" "0,0,0,0,0,0,0,0,0" 84542 3898 dbsnp19097 NP_001171487.1 S23A 0 57282 1383 dbsnp19102 NP_001009812.1 "E142D,G68R,I190M,R33G,R36S,S154F,S32F" "0,0,0,0,0,0,0" 85474 13004 dbsnp19108 NP_789795.1 "D60A,E206K,I62T,L138F,R142Q,R217W,R293T,R73Q,R87Q,S110G,S253F,S266A,V68M,Y139H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6819 10725 dbsnp19116 NP_001070665.1 T51I 0 50940 2416 dbsnp19121 NP_001078916.1 "A196T,A349G,A405G,E358D,K396R,P537S,R298K,R306H,Y532C" "0,0,0,0,0,0,0,0,0" 129881 5815 dbsnp19128 NP_001017396.1 "E303K,M32I,P326S,Q300H,R104H,R110Q" "0,0,0,0,0,0" 7549 8049 dbsnp19135 NP_660158.2 "P133H,R270H" "0,0" 151354 11059 dbsnp19138 NP_006047.3 "A315T,D106N,F334L,G18A,H177R,N22S,R137C,R179C,R203Q,R259W,R87C,S385N,V157M,V249M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10316 8031 dbsnp19140;dbsnp19141 NP_001030598.1;NP_001512.1 "A411G,G100A,K112R,L128F,L473V,M737T,N301D,P99S" "0,0,0,0,0,0,0,0" 2976 2556 dbsnp19142;dbsnp19143 NP_001098056.1;NP_079020.13 "F465L,P108S,P587L,Q77H,R209H,T516P,T725A,Y571F" "0,0,0,0,0,0,0,0" 79800 3835 dbsnp19145 NP_061936.2 "A403T,D564N,H508R,I383F,K398R,K755I,K755R,N441S,N839S,S18F,S978L,V343I,V558I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 27436 2179 dbsnp19162 NP_039230.1 S204F 0 5077 6317 dbsnp19163 NP_067016.3 "A140T,P75T,R186Q" "0,0,0" 3238 11498 dbsnp19173 NP_056290.3 "G398A,G469V,P198S,P317A,P321S,S283G,S51F,T517A,Y215F" "0,0,0,0,0,0,0,0,0" 25940 6352 dbsnp19184 NP_056278.1 "E92Q,L57P,P22L" "0,0,0" 25927 13651 dbsnp19186 NP_001161080.1 "A110T,A216G,E128K,E270K,I13T,I165T,I183N,I183T,P228L,P247L,T263M" "0,0,0,0,0,0,0,0,0,0,0" 84236 10531 dbsnp19195;dbsnp19196 NP_055377.1;NP_001186699.1 "G226S,P236H" "0,0" 5013 9570 dbsnp192 NP_872360.2 "E71A,I47R,R99G,T118I" "0,0,0,0" 282966 13783 dbsnp19205 NP_612379.2 "A237T,M334V,N369S,R261C,R300H,S109P,S309G" "0,0,0,0,0,0,0" 91461 6797 dbsnp19206 NP_612403.2 "I200T,S35L,T11M,Y241C" "0,0,0,0" 92906 5964 dbsnp19209 NP_660303.1 "A149D,E258Q,K155Q" "0,0,0" 130497 11573 dbsnp19210 NP_001108488.1 "I651T,P634S,S710A,V573A,V681I" "0,0,0,0,0" 55683 2597 dbsnp19211 NP_056445.3 "N205S,N501S,T439I" "0,0,0" 26122 3000 dbsnp19215;dbsnp19216;dbsnp19217 NP_067032.3;NP_001186068.1;NP_001186067.1 "A160T,A929S,A982G,E600G,G211E,G786V,G959A,N876K,S176F,V877M,W624R" "0,0,0,0,0,0,0,0,0,0,0" 58484 2012 dbsnp19218 NP_002899.1 "L156V,M404V,N424S,P393R" "0,0,0,0" 5966 4932 dbsnp19225 NP_001025484.1 "A197S,T201S,V185L" "0,0,0" 375298 5720 dbsnp19227 NP_775270.1 "A100E,I91V" "0,0" 27177 13644 dbsnp19228 NP_003700.1 "A191V,R76C,S291A" "0,0,0" 8609 10821 dbsnp19229 NP_036476.1 "G275E,H381Y,P382T,P388L,R253S,V296I,V304A" "0,0,0,0,0,0,0" 23620 8376 dbsnp19230 NP_631897.1 "A327T,E363A,Q76R,R13C,R13G,R159Q,R196W,R215W,R324C,R359K,T204I,V325F,V325L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 65061 7217 dbsnp19232 NP_598376.2 "D686N,E683D,F52L,I573T,P195S,R213Q,R42C,R516C,R589K,R711G,Y350S" "0,0,0,0,0,0,0,0,0,0,0" 165545 3903 dbsnp19235 NP_001188409.1 "A348V,E48K,P58L,P60S,P62L,R310W,R342G,R53Q,S46G,V302I,V653I" "0,0,0,0,0,0,0,0,0,0,0" 114880 2289 dbsnp19240 NP_085153.1 "C149Y,P418R,Q36K,T159S,V379G,V93I" "0,0,0,0,0,0" 80856 7990 dbsnp19252 NP_742067.3 "G224S,I1089V,L1510I,R1151C,R1552C,S1596N,S655F,S880C" "0,0,0,0,0,0,0,0" 130507 498 dbsnp19254 NP_001129101.1 "A40D,D254N,E656V,G560V,H320R,I293V,I402V,K439R,K88E,L415V,N619S,V226A,Y500C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 129285 3366 dbsnp19257 NP_073617.1 "E42Q,R159K" "0,0" 64795 8741 dbsnp19261 NP_001182073.1 "A618V,D482G,E932K,G262S,H715R,I454V,I729V,I94M,K530Q,K799R,M675T,R982H,S394L,V663L,V696I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91526 1798 dbsnp19264;dbsnp19265 NP_878915.2;NP_079520.1 "A362T,D544E,E176K,E549Q,H659R,I172V,I385L,L693I,N303S,R77Q,R79Q,T663P" "0,0,0,0,0,0,0,0,0,0,0,0" 80705 4094 dbsnp19273 NP_001073902.1 "H224L,P20S,R321W,R406G" "0,0,0,0" 114800 5804 dbsnp19281 NP_116177.1 "G118S,G56A,H334R,N347K,R221H,S171G,V333M,V44I" "0,0,0,0,0,0,0,0" 84874 8589 dbsnp19291 NP_001956.3 "G161S,G576A,P198L,S227T" "0,0,0,0" 1961 5291 dbsnp19295 NP_068744.1 "A64V,D312G,D91G,D91V,E117K,R151Q,S69Y,S81G,V11A,Y60H" "0,0,0,0,0,0,0,0,0,0" 60526 10284 dbsnp19296 NP_079265.2 "G893C,K111E,N792S,P912S,Q585E,S616F,T883A,V763I,Y626H" "0,0,0,0,0,0,0,0,0" 80055 2487 dbsnp19302 NP_079046.2 "A137G,H324R,K359E,L271R,M377V,P267A,Q368H,R143T,S142L,S243L,S355N,T169I,V239I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79828 8451 dbsnp19303;dbsnp19304;dbsnp19305 NP_001240653.1;NP_001240652.1;NP_064519.2 "A512T,T296M,V190I,V28I,V519I" "0,0,0,0,0" 56896 4210 dbsnp19308 NP_055578.2 "K227M,R118H,V105I" "0,0,0" 9801 11060 dbsnp19314 NP_115688.1 "F124L,I227V,K38T,N74K" "0,0,0,0" 84272 12043 dbsnp19316 NP_001136155.1 "D114G,E280K,I283L,L181V,L409P,P216L,P95A,R325T,R88L" "0,0,0,0,0,0,0,0,0" 79635 7777 dbsnp19320;dbsnp19321 NP_001182614.1;NP_919298.1 "A17V,A56T,H112N,P3R" "0,0,0,0" 130574 13533 dbsnp19322 NP_055726.3 "A481P,N530H,T375S" "0,0,0" 22848 2281 dbsnp19326 NP_001137485.1 "A238T,D111N,D694V,E1287K,E1351Q,E1352K,E9D,K956N,P1154S,P1536S,P573S,R10Q,R56Q,S200N,T1210A,V1042I,V1105L,V1705M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 653489 121 dbsnp19328 NP_037365.2 "A399T,Q425P" "0,0" 27347 5920 dbsnp1933 NP_001229560.1 V87A 0 100130348 14489 dbsnp19333 NP_008847.1 Q52K 0 6120 12363 dbsnp1934 NP_055393.1 "D88E,R144Q,R82W" "0,0,0" 29984 12721 dbsnp19353 NP_997245.2 "A105T,A378V,R197Q,R834W,T739A,T772M,V877I" "0,0,0,0,0,0,0" 343990 2275 dbsnp19354 NP_149019.1 "E238G,I175L,I175V,Q2E,S9Y,Y176F" "0,0,0,0,0,0" 66037 10993 dbsnp19357 NP_001002.1 "L158F,M32I,R106Q,R152W,S137G,S34A" "0,0,0,0,0,0" 6201 13112 dbsnp19358 NP_001034842.2 "A1396D,D1173N,E409Q,E491G,F907Y,G473V,G536A,G855R,H1929Y,K224N,M866I,N1249S,N1352S,N1575S,R1839C,R669Q,S379C,T1440I,T1619S,Y515F,Y559F,Y615F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 400954 440 dbsnp19359;hgmd0613_1269 NP_004798.3 "H63D,Y68H" "0,0" 9394 7180 dbsnp19360 NP_001034702.1 L43V 0 285148 11959 dbsnp19362 NP_116115.1 "R25C,R325W" "0,0" 84812 3506 dbsnp19363 NP_057702.1 "E124K,E185K,K198Q,K218Q,Q87R,R84W,T55M,V207I" "0,0,0,0,0,0,0,0" 51315 4716 dbsnp19364 NP_065726.1 "E192Q,L137F" "0,0" 57405 12462 dbsnp19365 NP_065811.1 "A33T,A747P,A747V,D475A,G761A,G761E,H786P,L638P,N1394S,N178S,N417S,N902S,P134S,P619R,S697L,S697W,T406I,T435N,T62S,V922M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57520 729 dbsnp19366 NP_997646.1 "A576T,D560N,E448K,G194E,G32V,G480W,K167E,R445H,R55L" "0,0,0,0,0,0,0,0,0" 10865 5217 dbsnp19367;dbsnp19369 NP_001154887.1;NP_005282.1 "D105N,F43L,R133C,R157H,R214Q,R248Q,R263H,R291H,R4W,S246G,T55M,V109M,V285I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2840 9264 dbsnp19371 NP_001171443.1 "G187R,R180L" "0,0" 5212 4137 dbsnp19372 NP_001138526.1 "D120A,D61N,P404A,R517L,V311A,W50R" "0,0,0,0,0,0" 388963 5304 dbsnp19373 NP_115494.1 "A257T,A301T,A61T,E158K,I225T,R207C,R29C,V234M,Y102C" "0,0,0,0,0,0,0,0,0" 84058 10057 dbsnp19374 NP_001008238.1 "D120H,T129I" "0,0" 130502 13912 dbsnp19375;dbsnp19376 NP_940850.1;NP_001008388.1 "F87L,G117E,G144S,P168L,P72R,P72S,R37Q,W61R,Y130C" "0,0,0,0,0,0,0,0,0" 130120 13463 dbsnp19378 NP_057142.1 "E138G,V49I,Y121S" "0,0,0" 51002 13464 dbsnp19379 NP_001093867.1 "A495V,G562R" "0,0" 11069 2067 dbsnp19381 NP_001229489.1 N549S 0 9448 1222 dbsnp19382 NP_001186033.1 "D274E,E12D,E343K,E476K,E561K,G14R,G411R,H479Y,L107P,L403V,P47A,R187Q,R228P,R43H,R554H,R81H,S21C,S432P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100526794 4595 dbsnp19383 NP_001186032.1 "L581V,N487S,T555S,V564A,V594I" "0,0,0,0,0" 100526794 4595 dbsnp19385 NP_001002006.1 "D274E,E12D,E343K,E476K,E561K,G14R,G411R,H479Y,L107P,L403V,P47A,R187Q,R228P,R43H,R554H,R81H,S21C,S432P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93034 4595 dbsnp19391 NP_001013671.2 "G90S,R148Q" "0,0" 388969 13616 dbsnp19393 NP_001158355.1 "A133V,I364T,P7L,S651T" "0,0,0,0" 1496 2579 dbsnp19397 NP_057276.2 "H148Y,V32I" "0,0" 23671 9124 dbsnp19398 NP_005039.1 "A162S,A225S,E511K,G3E,M533L,R143C,V10I,V185M,V435M,W109C" "0,0,0,0,0,0,0,0,0,0" 5746 5849 dbsnp194 NP_001013870.1 V24I 0 54536 3140 dbsnp1940 NP_001122085.1 "F61V,G36C,G36D,G92V,T129R" "0,0,0,0,0" 84304 10797 dbsnp19400 NP_004152.1 N189S 0 5861 12818 dbsnp19402 NP_001153626.1 S4I 0 11320 5647 dbsnp19403 NP_036346.1 "A43V,F466S,I508V,M413I,P303L,P436S,R4H,T236A,V188G" "0,0,0,0,0,0,0,0,0" 11320 5647 dbsnp19404 NP_061964.3 "A273T,H190P,M284T" "0,0,0" 65977 10866 dbsnp19405 NP_005957.2 "G142R,L197F,V155A" "0,0,0" 4664 6894 dbsnp19411 NP_001171486.1 "G308V,Q292L,R1076K,V403I" "0,0,0,0" 57282 1383 dbsnp19414 NP_001128659.1 "A417V,K378R,Q572R,S264T,T431P,V139A" "0,0,0,0,0,0" 3267 5357 dbsnp19419 NP_005834.4 "A267V,L66V,L69I,M392V,T493I,Y461C" "0,0,0,0,0,0" 10254 5993 dbsnp19420 NP_006053.2 "A154T,G210R,I285T,K44N,M170V,R185C,R278C,R278H" "0,0,0,0,0,0,0,0" 10322 8219 dbsnp19421 NP_689605.1 "F91L,K103N,P39R,S30A" "0,0,0,0" 130872 10890 dbsnp19422 NP_612142.2 "A81S,D97E,F264L" "0,0,0" 129401 10253 dbsnp19423 NP_861449.2 "E302D,G277R,P280S,R283H,R298W,V269L,V75I" "0,0,0,0,0,0,0" 200734 8220 dbsnp19425 NP_848526.1 "E77K,I147V,I468L,K123R,K281Q,M269L,P12T,Q484L,R449Q,R457H" "0,0,0,0,0,0,0,0,0,0" 64395 6196 dbsnp19428 NP_004613.1 "D53A,R129W" "0,0" 7247 12378 dbsnp19429 NP_004451.2 "A235V,F185L,F9S,G611D,I487N,L17F,L212F,L752I,T229M,V261I,Y124H" "0,0,0,0,0,0,0,0,0,0,0" 2191 3471 dbsnp19430 NP_524144.1 V11A 0 4632 12791 dbsnp19431 XP_934799.2 "A669T,C700R,D674V,G683S,H609N,I618T,R615W,R691W,R873H,T849P,V693L,V759L,W917R" "0,0,0,0,0,0,0,0,0,0,0,0,0" - 1801 dbsnp19432 NP_689740.2 "A184S,A184T,N217D,S380G,V293I,V410L" "0,0,0,0,0,0" 151473 6472 dbsnp19433 NP_777591.2 "E138D,F74L,I19N,N151H,Q16R,R33H,R34G" "0,0,0,0,0,0,0" 253635 11733 dbsnp19440 NP_001073944.1 "D246N,K215N,L280S,P721A,T155I,T256M" "0,0,0,0,0,0" 389072 3512 dbsnp19441 NP_004254.2 "A337T,A543V,D715G,G708A,R502C,R655Q,R82W,S735N,V353A,V79I" "0,0,0,0,0,0,0,0,0,0" 10505 3447 dbsnp19443 NP_945349.1 "G72R,H71Q,L28R,M117T,Q111R,Q94E,R144P,R23Q,T62S,T74I,T99K,T99P" "0,0,0,0,0,0,0,0,0,0,0,0" 375318 10724 dbsnp19444 NP_001245234.1 "G230S,R246Q" "0,0" 90557 8977 dbsnp19445 NP_955368.1 "I309V,K128N,Q31H,R200C,R200H,R33W,V187M,V222M,W93R" "0,0,0,0,0,0,0,0,0" 151313 10557 dbsnp19446 NP_001853.2 "N85S,Q125R,R115H,V123M" "0,0,0,0" 1329 14267 dbsnp19449 NP_078821.2 "M141T,M794V,S47C,S639C,S639G" "0,0,0,0,0" 79595 1778 dbsnp19451 NP_002245.4 "A429T,G280A,K455N,R229H,R229P,R405Q,S269L" "0,0,0,0,0,0,0" 3797 3264 dbsnp19452 NP_940884.1 "C168Y,E56K,I115S,L43V,R135H,V157E,V90M" "0,0,0,0,0,0,0" 284948 13465 dbsnp19454 NP_525125.2 "A126V,A150T,D392V,F267I,H266Q,I114N,I42T,R156W,R221S,R339C,R422C,V78M" "0,0,0,0,0,0,0,0,0,0,0,0" 113457 7568 dbsnp19455 NP_078782.3 "C226F,D388Y,H634R,L171F,N434H,P45L,R321C,R38W,R393H,T245I,V358A,V61M" "0,0,0,0,0,0,0,0,0,0,0,0" 79411 4293 dbsnp19456 NP_060380.3 "E377K,F23L,F329I,G107R,G206R,K191E,L370S,M1V,M237T,P71S,R137C,S257P,S75L,V139F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55006 7069 dbsnp19457 NP_055946.1 "H117Y,P221L,Q73R,V88I" "0,0,0,0" 23160 4303 dbsnp19459 NP_004873.3 "D311E,K237E,L318F,L318V,R329W,S351G,V156I" "0,0,0,0,0,0,0" 9541 7600 dbsnp19464 NP_072094.1 "D113N,G65R,H84R,R128Q,R61H,R70Q,S154N" "0,0,0,0,0,0,0" 25953 8885 dbsnp19466 NP_853553.1 M268V 0 550 8396 dbsnp19467 NP_065956.1 "E100D,L267V,N173S,T241S,V111L,V250A,V280I" "0,0,0,0,0,0,0" 57665 4595 dbsnp19469 NP_001094800.1 "E235D,I172V,L100V,L167V,N233K,P143L,S67I,V264I" "0,0,0,0,0,0,0,0" 728819 10440 dbsnp19475 NP_659431.5 "G134R,K154Q,R37S,R46Q,R46W,S64R,T303P" "0,0,0,0,0,0,0" 200539 10764 dbsnp19476 NP_073734.1 "G15R,Q215R,R43Q" "0,0,0" 64838 12264 dbsnp19477 NP_075392.2 "D367N,I468V,R498S" "0,0,0" 65124 6219 dbsnp19478 XP_002342351.1 "A135G,D237E,E173K,H189Y,R213H,R51L" "0,0,0,0,0,0" 100287387 10423 dbsnp19479 NP_116211.2 "D108V,D88H,S46F,S98N,V68F" "0,0,0,0,0" 84908 14128 dbsnp19480 NP_878248.2 "A286T,D364H,G306D" "0,0,0" 151449 7601 dbsnp19482;dbsnp19483;dbsnp19484;dbsnp19485 NP_001135782.1;NP_001135783.1;NP_612399.1;NP_001135784.1 "H39Y,Q243H,R48C,S99R,V211I" "0,0,0,0,0" 92691 10944 dbsnp19486 NP_056492.2 "G89D,S273P,T151M" "0,0,0" 26751 9869 dbsnp19488 NP_001186675.1 "A18T,G270R,N289I,P187L" "0,0,0,0" 3234 11107 dbsnp19491 NP_940983.2 "D166G,N1102H,Y140C,Y588C" "0,0,0,0" 376940 1453 dbsnp19494 NP_647596.1 "R263Q,S262P" "0,0" 274 5221 dbsnp19498 NP_001128217.1 "F52L,H541P" "0,0" 80059 5274 dbsnp19499 NP_899063.2 "A101S,G77D,G95D,P17T,R18C,R19Q,T70S,V94M" "0,0,0,0,0,0,0,0" 140738 13177 dbsnp19500 NP_036224.1 "R14C,V151L,V197M" "0,0,0" 29851 12991 dbsnp19502 NP_690047.2 "I95V,P2S" "0,0" 129787 14096 dbsnp19503 NP_003153.2 "A82T,E197G,K500R,L651R,N597H,P273L,P380S,Q666K,S151T,T439I" "0,0,0,0,0,0,0,0,0,0" 6801 3231 dbsnp19504;dbsnp19505 NP_476434.1;NP_476435.1 "R169Q,S191P" "0,0" 1412 12643 dbsnp19508 NP_694583.1 "P69S,Q25R,V89I" "0,0,0" 151278 13670 dbsnp19510 NP_001417.3 N257I 0 2019 8762 dbsnp19516 NP_001034658.1 "F4C,R33W,T32I" "0,0,0" 130340 13848 dbsnp19517 NP_694453.2 "A334T,F140C,M345V,R167Q" "0,0,0,0" 129831 7136 dbsnp19518 NP_689732.2 "A222T,A325T,A662D,E794A,G258D,L781S,N660S,P202L,Q322K,R315Q,S486N,S577T,S734L,S967L,V36I,Y619H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151050 2153 dbsnp19519 NP_995314.1 "I465T,I945V,M492V,R600H,V122I" "0,0,0,0,0" 10787 1609 dbsnp19521 NP_006545.1 "H76R,I88V,V118I" "0,0,0" 10651 11637 dbsnp19523 NP_006568.2 "D136E,M25V,M76V" "0,0,0" 10678 8650 dbsnp19524 NP_073153.1 "A1524P,A357E,A480P,A613V,D740N,D740Y,G1695R,G1704V,G393D,G856R,G865E,K1734R,K484N,L1533V,L930W,M637I,M668V,N1578D,P335L,P378A,P538A,P760R,Q451H,R527Q,T302K,T416M,T524A,T838M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64682 454 dbsnp19525 NP_689735.1 "A61P,R56L" "0,0" 151188 12425 dbsnp19526 NP_001476.2 E120D 0 2637 9338 dbsnp19530 XP_933678.1 "A930V,D51N,E540K,G973D,H144Y,H801L,K642R,K673E,K913T,M665I,M890L,R816H,Y898C" "0,0,0,0,0,0,0,0,0,0,0,0,0" - 1801 dbsnp19531 NP_996885.1 G86E 0 10018 13009 dbsnp19532 NP_955378.1 "E28K,R72S,S119G" "0,0,0" 375189 14268 dbsnp19533 NP_061004.3 "D677Y,E611K,H905L,I187V,L817R,N321I,N321S,P280S,R287Q,R334C,R334S,R428W,S904W,T242M,T600M,V775M,V825E,W594R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8828 2423 dbsnp19534 NP_957718.1 "I869V,T891S,Y860F" "0,0,0" 8828 2423 dbsnp19548 NP_037520.1 "A105T,L57F,P123S,R215W,R246C,R246G,R275C,R357C,V338M" "0,0,0,0,0,0,0,0,0" 10113 8245 dbsnp19549 NP_056285.1 "A272T,D603N,P317S,P79A,Q611L,Q611P,R474W,R479C,R614Q,S244C,S359L,V527M" "0,0,0,0,0,0,0,0,0,0,0,0" 26056 4562 dbsnp19550 NP_872306.1 "A54V,F146L,R141H,R151Q,T123M" "0,0,0,0,0" 130813 13687 dbsnp19551 NP_777558.1 "L57R,Q172E,R43C" "0,0,0" 129530 13113 dbsnp19552 NP_004709.2 "A34P,G7S,P74L,Q24E" "0,0,0,0" 9167 14494 dbsnp19553 NP_619531.1 "L57R,S50R,V42A" "0,0,0" 10018 13009 dbsnp19560 NP_060696.4 "D699N,E242K,E389K,E428D,R622W" "0,0,0,0,0" 57140 3836 dbsnp19561 NP_001120855.1 A126T 0 79901 11170 dbsnp19564 NP_056977.1 "A43T,G51S,V63A" "0,0,0" 51052 14792 dbsnp19566 NP_001123465.1 "R698H,R716H" "0,0" 84542 3898 dbsnp19567 NP_001015056.1 "A413V,A424T,A62T,C500Y,F365L,G69C,H478Y,L331I,Q323P,R180Q,R249C,R249G,T345N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6242 5643 dbsnp19570 XP_001723914.1 F16L 0 - 14305 dbsnp19571 NP_542384.1 "L121P,L143V,L215F,M213I,R135H,R137W,R44C,R44H,V46M" "0,0,0,0,0,0,0,0,0" 90423 12421 dbsnp19572 NP_001128684.1 "F9L,M158T,R148Q" "0,0,0" 51661 12500 dbsnp19577 NP_002634.1 "H75R,L200V,N153D,P27S,T124A,V62A" "0,0,0,0,0,0" 5281 12560 dbsnp19579 NP_071411.1 "I254T,I85L,M166V,M290V,P178L,T32I,V19A" "0,0,0,0,0,0,0" 64080 10356 dbsnp19580;dbsnp19581 NP_113633.2;NP_001186069.1 "A82P,P42S" "0,0" 83607 10085 dbsnp19582 NP_060930.3 "G411E,Q457K,R18C" "0,0,0" 55843 7119 dbsnp19583 NP_054763.2 "F108V,S214G" "0,0" 25972 11734 dbsnp19587 NP_937832.1 "I15V,P118L,Q74K" "0,0,0" 10920 12775 dbsnp19589 NP_055675.1 "N124T,R74Q" "0,0" 9913 8309 dbsnp19592 NP_001157936.1 R137Q 0 653192 7546 dbsnp19593 NP_001191036.1 S83P 0 10018 13009 dbsnp19602 NP_001028747.1 G62D 0 285193 13444 dbsnp19603 NP_001229744.1 "A75V,C115R,Q84R" "0,0,0" 400950 14233 dbsnp19604 NP_076970.1 "I216T,K108R,L182V,P181L,P21S,P22R,R76W,W196R" "0,0,0,0,0,0,0,0" 79031 12157 dbsnp19605 NP_114108.1 "A363T,A429S,A429T,C72S,R136C,R264Q,R284Q,R351H,R419H,S28F,S386P" "0,0,0,0,0,0,0,0,0,0,0" 64969 7955 dbsnp19606;dbsnp19607;dbsnp19608 NP_733800.1;NP_001070659.1;NP_001070662.1 "Q296R,W291C" "0,0" 151306 10153 dbsnp19611;hgmd0613_2021 NP_071505.2 "A316G,G336S,N357S,Q318R,V294M" "0,0,0,0,0" 7072 8760 dbsnp19613 NP_116213.1 "G338A,I407T,Y230C" "0,0,0" 84910 5775 dbsnp19614 NP_001243297.1 "A59V,L34F,L48P,R9C" "0,0,0,0" 100144595 14626 dbsnp19615 NP_001245243.1 "G2S,M1R" "0,0" 5136 3454 dbsnp19616 NP_001073969.1 H6Q 0 402117 12501 dbsnp19622 NP_775782.2 "A551V,P243T,P369L,R409H" "0,0,0,0" 150864 5292 dbsnp19623;dbsnp19624 NP_001161836.1;NP_776252.2 "G201R,P147L,R127H,R233Q,T120A" "0,0,0,0,0" 200634 12135 dbsnp19625 NP_055415.1 "N478S,R231W,V151I" "0,0,0" 30845 5949 dbsnp19626;dbsnp19627;dbsnp19628;dbsnp19629;dbsnp19630 NP_001191759.1;NP_057013.1;NP_660200.1;NP_660199.1;NP_660198.1 "I37V,K161T,Q147H,R151K,T205A" "0,0,0,0,0" 51601 9148 dbsnp1963 NP_076997.1 "A210V,R238H,R238P,R37Q" "0,0,0,0" 79073 12062 dbsnp19631 NP_277040.1 V338A 0 85465 8651 dbsnp19633 NP_001019246.1 R76W 0 3176 11041 dbsnp19635 NP_001094288.1 "D163V,G197R,T90M,T90S" "0,0,0,0" 55022 11960 dbsnp19637 NP_002401.1 "D549E,I437T" "0,0" 4249 3691 dbsnp19638 NP_066191.1 "A44V,E64D" "0,0" 8708 10254 dbsnp19639 NP_001135772.1 "I32S,S93N" "0,0" 151195 9881 dbsnp1964 NP_006099.2 "D358N,G499V,P619S,Q530H,R167H,T545M,V256I,W292S" "0,0,0,0,0,0,0,0" 10418 3164 dbsnp19643 NP_005846.1 "I123V,T128M" "0,0" 10267 13962 dbsnp19644 NP_001245241.1 "I467T,K30R,R34H,V51I" "0,0,0,0" 5136 3454 dbsnp19647 NP_065702.2 S108N 0 57162 7222 dbsnp19648 NP_001034627.1 R220H 0 4133 541 dbsnp19651 NP_055570.1 "D119E,H109Y,M85I,S122C,T235M,T62S" "0,0,0,0,0,0" 9792 10569 dbsnp19652 NP_073567.1 N203S 0 64708 11377 dbsnp19653 NP_055028.3 "G155W,N323S,V318M" "0,0,0" 3235 9615 dbsnp19655 NP_060450.2 "A236V,N318K,Q275R,R153C" "0,0,0,0" 55679 8864 dbsnp19660 NP_001161713.1 "H609Y,P626S,R56Q" "0,0,0" 150946 2749 dbsnp19661 NP_940961.1 "A363T,E202K,F95I,H314Y,L106R,S104A,S316T,S57L,T67A" "0,0,0,0,0,0,0,0,0" 375307 8863 dbsnp19662 NP_115810.2 "P557S,S334N" "0,0" 84450 5595 dbsnp19663 NP_036458.2 "G154S,G86D,Q170K" "0,0,0" 22924 10217 dbsnp19665;dbsnp19666 NP_817114.2;NP_001032251.1 "K140E,R138Q,T42A" "0,0,0" 26225 13379 dbsnp19669 NP_524146.1 "F3C,M1T,R36Q,T27S" "0,0,0,0" 4632 12791 dbsnp19670 NP_065881.1 "A404V,G265R,G323R,G379E,P397A,T143A" "0,0,0,0,0,0" 57590 8397 dbsnp19673 NP_663719.2 S810N 0 9448 1222 dbsnp19675;dbsnp19678 NP_954661.1;NP_954664.1 "I10M,R133Q,R172C,S11C,T368A,V250I" "0,0,0,0,0,0" 9577 8285 dbsnp19677 NP_004890.2 Q366E 0 9577 8285 dbsnp19680 NP_115685.1 "C79Y,R32Q,R52C" "0,0,0" 84269 14540 dbsnp19681 NP_115904.1 "D16E,D75A,L185F,R166Q,V88M" "0,0,0,0,0" 666 12704 dbsnp19682 NP_653230.2 "D486N,F489L,G189S,I299T,N198K,P360L,P377A,S196T,S334R,S438P,T373A,T435I" "0,0,0,0,0,0,0,0,0,0,0,0" 130132 6649 dbsnp19683 NP_776183.1 "N280S,R205W,R372K,V231L" "0,0,0,0" 285172 6139 dbsnp19684 NP_001096129.1 "A128V,A95T" "0,0" 200726 13347 dbsnp19688 NP_114148.3 "C143G,G127A,P315L" "0,0,0" 83879 7602 dbsnp19689 NP_115935.3 "A276V,D297N,G153S,M237R,V356I,V356L" "0,0,0,0,0,0" 57159 8590 dbsnp19692 NP_001138923.2 "A137G,L324F,L497W,L76F,P162A,R544K,S521T,V256I,Y357H" "0,0,0,0,0,0,0,0,0" 100271715 2775 dbsnp19693 NP_005750.4 "I141V,I340V,L316H,P166L" "0,0,0,0" 10152 6506 dbsnp19694 NP_001005209.1 "G284S,R261W,R263Q,R268H,V74G" "0,0,0,0,0" 130612 9433 dbsnp197 NP_001153219.1 "M273K,N64D,Q401L,Y237H" "0,0,0,0" 387707 8567 dbsnp19700 NP_653312.2 "C552Y,E217G,E487Q,H264R,T28S" "0,0,0,0,0" 151230 5726 dbsnp19701 NP_001186219.1 "C552Y,E217G,E487Q,H264R,T28S" "0,0,0,0,0" 100526832 5726 dbsnp19702 NP_817092.1 "E179K,K542E,K542T,M386T,S201P" "0,0,0,0,0" 5496 5905 dbsnp19703 NP_001158204.1 T84M 0 65055 11776 dbsnp19704 NP_689599.2 "F328L,I124L,I289T,R365G,R365Q,T104M,T214M,V197M,V80I" "0,0,0,0,0,0,0,0,0" 130367 8613 dbsnp19705 NP_653307.1 D52N 0 150590 14337 dbsnp19707;dbsnp19708;hgmd0613_949 NP_002482.1;NP_001244031.1 "H12Y,H7Y,V61A,W22R" "0,0,0,1" 4709 14687 dbsnp19709 NP_620155.1 "D4N,H136Y,R145K,R163K" "0,0,0,0" 129868 7546 dbsnp1971 NP_009187.1 "G285S,G414S,G6A,H185Y,N546K,P115S,P15S,P547H,P547R,Q693E,R306H,R312Q,R509H,S486F,T86M,V201M,V542M,V548M,V691I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11309 3979 dbsnp19710 NP_057254.1 "R131L,R195G,S278P,S278T" "0,0,0,0" 3196 10149 dbsnp19713 NP_003450.2 "R290P,R298C" "0,0" 7781 8840 dbsnp19714 NP_060093.3 "A623V,K519N,N387S,R506Q,R608H,R654G,T383I,V211G,V460M" "0,0,0,0,0,0,0,0,0" 26505 4019 dbsnp19716 NP_075045.2 "A547V,I42V,R14H,R675H,T91P,V62G" "0,0,0,0,0,0" 64895 3739 dbsnp19717 NP_612404.1 "A15T,G574V,I233V,L21V,R414I,V241I,V527A,Y365C" "0,0,0,0,0,0,0,0" 92935 5237 dbsnp19720 NP_115733.2 "A180V,L31F,Q136E" "0,0,0" 84317 13366 dbsnp19729 NP_001189443.1 "D167E,R179Q,T194I" "0,0,0" 4084 10987 dbsnp19732 NP_001005176.1 E158K 0 11262 2786 dbsnp19733 NP_001193531.1 "S8L,T12S,W7C" "0,0,0" 1123 7237 dbsnp19734 NP_004409.1 "D281H,F217L,R277H" "0,0,0" 1844 8700 dbsnp19737 NP_005425.1 "A136T,A47T,E118Q,G100D,T43A,Y52C" "0,0,0,0,0,0" 7851 13871 dbsnp19740 NP_006513.1 R70G 0 7475 9308 dbsnp19741 NP_002900.2 "N97S,P30S,V152M" "0,0,0" 5967 13463 dbsnp19744 NP_001180414.1 A2V 0 3987 8864 dbsnp19746 NP_001180413.1 "D23N,R19Q" "0,0" 3987 8864 dbsnp19748;dbsnp19749 NP_009013.1;NP_038198.1 "A94T,E217K,I103V,L119F,N111I,R82Q,T53M" "0,0,0,0,0,0,0" 11159 12173 dbsnp19750 NP_002592.1 "D136N,D137N" "0,0" 5147 13930 dbsnp19751 NP_004396.1 "A74V,K105N" "0,0" 1746 10207 dbsnp19753 NP_663748.1 "E123K,E458K,I330V,S164I,S561L,T13I,V257M" "0,0,0,0,0,0,0" 200765 5261 dbsnp19754 NP_003275.1 N48S 0 7141 14926 dbsnp19755 NP_004796.1 "C99S,S111A,Y67C" "0,0,0" 5433 14062 dbsnp19763 NP_058520.1 "M325V,P210Q" "0,0" 5937 7832 dbsnp19765 NP_060016.3 "A365P,I177M,S262F" "0,0,0" 55571 6473 dbsnp19766 NP_077026.2 "I86V,L299V,P339L,S245F" "0,0,0,0" 79134 9658 dbsnp19768 NP_005244.1 P6S 0 2355 10255 dbsnp19769 NP_060037.3 "A206T,A332V,D109V,G123S,G156S,G191S,G336D,K307E,R104W,T248I" "0,0,0,0,0,0,0,0,0,0" 55577 8810 dbsnp19770 NP_001135764.1 "R15W,V337I" "0,0" 81562 9467 dbsnp19772 NP_919223.1 "N276S,S256N" "0,0" 220988 9027 dbsnp19775 NP_783329.1 E30A 0 1788 2543 dbsnp19777 NP_003752.2 W70C 0 8673 14651 dbsnp19778 NP_001138466.1 "A64G,G292R,N267Y" "0,0,0" 257407 10994 dbsnp19779 NP_001032237.1 "E114G,P87L,R154G,R35L,V45L" "0,0,0,0,0" 192668 13776 dbsnp19780 NP_112177.2 S15L 0 81606 14590 dbsnp19781 NP_001035535.1 "A200T,S321L" "0,0" 51665 10031 dbsnp19782 NP_001073927.1 "C122S,P283Q" "0,0" 344191 7093 dbsnp19783 NP_057163.1 R35K 0 51652 11900 dbsnp19785 NP_001185883.1 "E13A,R64K" "0,0" 100526767 11900 dbsnp19789;hgmd0613_2508 NP_997717.2 "R107C,R46Q" "0,0" 388962 14566 dbsnp19790 NP_001030582.1 "T77M,T80M" "0,0" 388962 14566 dbsnp19791 NP_001232.1 Q655P 0 905 3782 dbsnp19793;dbsnp19794;dbsnp19795 NP_001124321.1;NP_001124322.1;NP_057373.1 "A157G,T314M" "0,0" 51719 9891 dbsnp19799 NP_653180.1 "A16D,A253V,A328T" "0,0,0" 94097 9916 dbsnp19801 NP_071883.1 "G79S,I70V" "0,0" 4118 13870 dbsnp19803;dbsnp19804 NP_005159.1;NP_001241667.1 "T155M,V205I" "0,0" 390 12044 dbsnp19805 NP_620153.1 "D80E,G5E" "0,0" 129531 11938 dbsnp19806 NP_057628.1 "I180V,K39R,S14P" "0,0,0" 51277 11430 dbsnp19808 NP_612199.2 R50Q 0 130013 10000 dbsnp19809 NP_001136117.1 "F165L,G186A,V254L,V83I" "0,0,0,0" 100131211 8246 dbsnp19811 NP_001161431.1 R101Q 0 130733 10933 dbsnp19814 NP_055786.1 "R458C,V4M" "0,0" 22979 3084 dbsnp19815 NP_001094093.1 "A117V,R57C,Y135C" "0,0,0" 55041 12502 dbsnp19817 XP_003403555.1 K52N 0 100652775 14541 dbsnp19818 NP_079457.2 "E224K,F463C,L273F,P322S,T154I" "0,0,0,0,0" 80255 6246 dbsnp19819 NP_715640.2 R13H 0 1788 2543 dbsnp19820 NP_001180444.1 "A86T,M332V,R127W" "0,0,0" 55676 6650 dbsnp19825;dbsnp19826 NP_690601.1;NP_005722.1 K136R 0 10109 10867 dbsnp19829 NP_112185.1 H149R 0 81615 11130 dbsnp19830 NP_998773.1 D57H 0 401027 14445 dbsnp19831;dbsnp19832 NP_057551.1;NP_001121622.1 Y116C 0 94101 13865 dbsnp19835 NP_115705.2 S51F 0 84289 11933 dbsnp19836 NP_899204.1 "R337C,R384C,R80H,T312M,T551M" "0,0,0,0,0" 1838 3679 dbsnp19842 NP_036277.2 K182N 0 1841 12693 dbsnp19845 NP_002149.2 S128A 0 3344 7939 dbsnp19846 NP_002227.2 A461G 0 3754 6772 dbsnp19847;dbsnp19848;dbsnp19849;dbsnp19850;dbsnp19851 NP_001245286.1;NP_001245287.1;NP_001245288.1;NP_002140.2;NP_602293.1 S191N 0 3241 12967 dbsnp1985 NP_001186673.1 "C167Y,D112V,E74D,N172K,R100H,R191Q,R198C,V75A,Y160C" "0,0,0,0,0,0,0,0,0" 100528017 12790 dbsnp19852 NP_057215.3 V192M 0 10890 12818 dbsnp19853 NP_710156.3 "N200S,P121S" "0,0" 205327 8900 dbsnp19854 NP_001026908.1 Y72C 0 129303 11472 dbsnp19859 NP_653183.2 T38A 0 113419 13067 dbsnp1986 NP_001007250.1 "G284R,H172Y,H189R,I163V,I293T,I84L,L43P,N299H,R242H,S201Y,S6C,T292A,T9S,V294I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26492 9775 dbsnp19861 NP_057399.1 R303T 0 51454 10789 dbsnp19867 NP_001129121.1 "G417V,R236Q" "0,0" 344167 8161 dbsnp19868 NP_001072998.1 W78R 0 653275 12468 dbsnp19869 NP_060691.2 I151V 0 55233 12521 dbsnp19871 NP_001009993.2 A17V 0 130074 13087 dbsnp19872 NP_055485.2 T10A 0 9689 7584 dbsnp19877 NP_001009959.1 "I217T,S245G" "0,0" 57471 10945 dbsnp19881 NP_001077007.1 "G62D,H349R,K169Q,K684E,L94V,M665I,N558D,R342K,V5I" "0,0,0,0,0,0,0,0,0" 445582 1801 dbsnp19883 NP_872334.2 Q120K 0 165257 11165 dbsnp19884 NP_542409.1 F65V 0 140739 13269 dbsnp19885 NP_001369.1 E234G 0 1781 4634 dbsnp19886 NP_056004.1 P238H 0 23233 3140 dbsnp19887 NP_001071638.2 "A13P,S920L,T1728M,V1308I" "0,0,0,0" 729857 121 dbsnp19888 NP_001071105.1 K127R 0 150786 11823 dbsnp19889 NP_001027564.1 "A91V,R80K" "0,0" 5343 14160 dbsnp19890 NP_001019628.3 "D1373Y,K1359N" "0,0" 400966 121 dbsnp19891 NP_002656.1 L10P 0 5342 14160 dbsnp19899 NP_001613.2 "A164T,K67E,P261R,P70S,Q181E,R340H,V272M" "0,0,0,0,0,0,0" 197 9252 dbsnp19904 NP_000787.2 "A151T,C231S,R283Q" "0,0,0" 1814 8577 dbsnp19907 NP_001123536.1 "A214V,G60S,P11S,P34S,T217N,V95I" "0,0,0,0,0,0" 2596 11403 dbsnp19908;dbsnp19909;dbsnp19910 NP_001007074.1;NP_001007075.1;NP_000985.1 "I99M,M55V,N57S,R33H,R33L" "0,0,0,0,0" 6161 14173 dbsnp19911 NP_054760.3 "H71Y,P41A" "0,0" 28972 13567 dbsnp19915 NP_055398.1 "G70A,G88R,K237R,N9H,R170C,R305W,R364C,V334I" "0,0,0,0,0,0,0,0" 29995 9309 dbsnp19930 NP_071942.1 "R132Q,R137W" "0,0" 64432 13498 dbsnp19933 NP_001028202.1 "A151T,A164V,L161S,L18S,L32P,V146G" "0,0,0,0,0,0" 55179 12684 dbsnp19937 NP_001158268.1 "A159V,H138R,I166T,S76T,T120M" "0,0,0,0,0" 115286 11393 dbsnp19945 NP_031363.2 "M1773L,P1714L,V1676M" "0,0,0" 9940 572 dbsnp1995 NP_001005198.1 "A191V,C96Y,G239E,G306R,L140F,L165V,M319V,S163N,S88F,T314A,Y265S" "0,0,0,0,0,0,0,0,0,0,0" 219865 9775 dbsnp19952 NP_848018.1 "A382T,D295Y,I258N,K303R,K394R,K406E,K426E,L121F,M332T,N49S,R466W,R76H,S206F,S209L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152137 6972 dbsnp19963 NP_001036040.2 "A127T,A347V,D171N,F287S,F68V,G282D,G368S,G697D,R3P,S690C,V115I" "0,0,0,0,0,0,0,0,0,0,0" 344805 3904 dbsnp19966 NP_775928.1 "A4T,S117N,V124M" "0,0,0" 285315 11003 dbsnp19969 NP_060876.5 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4585 20 dbsnp19971 NP_056259.2 A67T 0 25907 10868 dbsnp19973 NP_060779.2 "A25T,C31S,I40T,I429T,M490V,N154H,P8A,S300T" "0,0,0,0,0,0,0,0" 55773 4087 dbsnp19976 NP_037456.5 "H179Q,N160S,P202H,R233H,R238H,R262Q,R95Q,T6P" "0,0,0,0,0,0,0,0" 1154 11384 dbsnp19977 NP_056327.4 "D311N,D906G,E1726V,E205D,E2883D,F1987L,G1890V,G3801D,I190T,I2226V,K299R,K415R,L2364V,M2712V,M2849I,M661V,N1530D,N2064S,N2384S,N915S,P66L,Q296E,Q3360H,Q770E,R1087H,R1285W,R1663C,R2398H,R2495H,R2683Q,R2707H,R2841H,R2928H,R3041C,R3744C,R374C,R884W,R971H,S1146C,S1763L,S2995R,T3312M,V1502M,V1511M,V1758A,V2756M,V441L,W2741R,Y855C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25981 63 dbsnp19982 NP_001180309.1 "A7V,C429S,D271E,D308N,D398E,G412D,G473R,G94S,K153E,L184M,P402S,P440L,Q222L,R129P,R256H,R294H,S417T,V254L,Y219C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 132014 4020 dbsnp19987 NP_703191.1 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"A2176D,A2433T,C1477S,D1118G,D1768N,D1963E,D603N,D982G,E1423G,E1750D,E455K,E561D,F1910L,G1437R,G1440E,G2205D,H1098R,H805R,I1114M,I1882V,I758V,K1530E,L1634R,L371V,L97F,M1193I,N1994S,N641H,P1257S,P1623H,P1753L,Q1608H,Q2188R,Q958R,R2060C,R2120H,R2335K,R884H,S1055N,S1539T,S1589P,S1808L,S196G,S2414P,S292N,S406R,T1280P,V1267A,V1276I,V1565I,V2409I,V2425I,V49M,Y2438S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256076 211 dbsnp20025 NP_009115.2 "A1028V,A127V,A237T,A552V,A797T,A871T,A904T,D172G,D303N,E138D,E1398D,E672K,G735S,H786R,I215V,K230R,K460R,L1382F,L208F,L523F,P947L,Q1463H,Q627H,R1411H,R1479G,R930H,S238L,S263T,T1090M,T1503P,V1471G,V407M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11188 816 dbsnp20031 NP_002577.2 "A204V,A321S,G389R,P45S,V322M,V44F,V44I,V44L" "0,0,0,0,0,0,0,0" 5089 7886 dbsnp20032 NP_001171070.1 "A117T,K101R,K347R,N415K,Q239L,R381Q,R381W,V214I,V425I,Y404H" "0,0,0,0,0,0,0,0,0,0" 8801 7778 dbsnp20033 NP_612354.1 "A1181G,A429T,D1205Y,G90S,N898D,P200S,R762Q,R896Q,R917Q,S1129T,S930G,T350R,T681I,V513L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90113 1272 dbsnp20044 NP_001106207.1 "A148V,A547T,A831G,D1148N,D791V,E35K,F123C,G1096V,G463E,G508D,I1435V,I331V,K811E,L184Q,L493V,L614I,Q38P,R1060Q,S1448R,S1492L,T1046R,T395I,V880M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23272 670 dbsnp20048 NP_057384.2 "A595T,A664V,L307V,P443A,P586L,P586Q,P770L,S68R,T651M,V718I" "0,0,0,0,0,0,0,0,0,0" 10777 14768 dbsnp20055 NP_001138615.1 "K255R,R112H" "0,0" 200909 6973 dbsnp2007 NP_663626.2 "C16Y,E47D,I70R,R5C" "0,0,0,0" 147199 14718 dbsnp20070 NP_000873.2 "E209G,M153I,M247T,P183L,P220L,P3S,T46N,V211M,V82I" "0,0,0,0,0,0,0,0,0" 3592 11854 dbsnp20075 NP_001171069.1 "R246G,Y208N" "0,0" 7066 9580 dbsnp2009 NP_878253.1 "H383Y,I233T,I390V,I401T,K220R,N429D,P241L,Q151K,Q162K,T319I,T446S,T510I,V134L,Y468C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220032 4866 dbsnp20090;hgmd0613_578 NP_001020018.1 "D40N,H56N" "0,1" 7048 5252 dbsnp20097 NP_058213.1 "P332A,P332R,V326L,Y321H" "0,0,0,0" 4968 8071 dbsnp20104 NP_001170858.1 S920R 0 6314 2364 dbsnp20115 NP_001021100.3 "A832T,D233N,D242V,D265H,D359N,D599N,D902N,E317K,E341Q,G250R,K465E,M645R,N561H,P132R,P777S,Q382P,R498C,R498H,R589Q,R644Q,R737Q,S807L,V494M,V901A,W545L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26140 2525 dbsnp20116 NP_066278.3 "A366V,A367G,C338R,G215R,I693R,P144S,P559Q,R108H,R111C,R299S,R34C,R492W,R493L,R513G,R653H,R703C,S101L,S565G,T104S,T294S,V575L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4485 3837 dbsnp20120 NP_060499.3 "A106T,A90S,D72G,G144V,I193V,I232T,K179N,L256F,M216R,M65V,R269H,S46P,Y8H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55096 9282 dbsnp20126;hgmd0613_2284 NP_624302.1 "D544V,E723G,G459S,P562A,R441H,R576M,R637L,T644M,V518I,V624M,V708M" "0,0,0,0,0,0,0,0,0,0,0" 5648 3806 dbsnp20127 NP_001027019.1 D368N 0 5648 3806 dbsnp20130 NP_002438.2 "A128V,C548G,D176N,D565A,G1303D,G1385V,G465D,L296P,L924F,N440S,N778T,P410L,Q523R,Q613P,R1236T,R1335G,R322Q,R504C,R75S,S1394T,S434L,S623R,S708R,T957M,V269M,V900M,V946M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4486 982 dbsnp20136 NP_002941.1 "F203L,H238Y,K465R,P141L,R180Q,R391H,T253P,V453F,V453I" "0,0,0,0,0,0,0,0,0" 6184 5059 dbsnp20137 NP_149038.3 "A18V,A390V,D349H,I100T,M133K,M236K,P230L,P71A,R503S,R509H,S269P,S364G,T67I,V262I,V361I,Y328C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56667 6447 dbsnp20148 NP_787058.4 "A310T,D323N,E73G,G184V,I258T,M83V,P3H,R226W,S170N" "0,0,0,0,0,0,0,0,0" 942 10159 dbsnp20151 NP_001193854.1 M1V 0 942 10159 dbsnp20156 NP_001004196.2 "N106K,P71T,S36C,T221I,V101G,V199I,V254I" "0,0,0,0,0,0,0" 4345 11013 dbsnp20158 NP_001005861.1 "C598Y,E405G,L514V,N359K,Q451R,R510C,S254N,S99N,T280M,T293A,V167I" "0,0,0,0,0,0,0,0,0,0,0" 6259 5024 dbsnp20161 NP_001157789.1 F1483L 0 2317 186 dbsnp20167 NP_001238774.1 "A14T,I684T,R721S,S17T,V621M" "0,0,0,0,0" 7220 3269 dbsnp20171 NP_004292.1 "D275N,D339E,G65S,L380V,S225T,S326G,V218I,Y21H" "0,0,0,0,0,0,0,0" 86 7975 dbsnp20175 NP_001186480.1 "A145T,D177G,F198L,P73T,Q230H,R199C,S15T,S237L,T226M,T49M,V171M,Y61H" "0,0,0,0,0,0,0,0,0,0,0,0" 63924 11901 dbsnp2018 NP_066940.2 "A12E,E588K,R482Q,S611N,T462M,W360G" "0,0,0,0,0,0" 1408 4983 dbsnp20180 NP_001191317.1 K37R 0 1739 2212 dbsnp20182 NP_001191316.1 S588L 0 1739 2212 dbsnp20198 NP_001157149.1 "R158T,T166A" "0,0" 27094 11296 dbsnp2020 NP_001128496.1 "E28G,G5S" "0,0" 8050 6629 dbsnp20200 NP_057285.3 "A342P,A520V,E732D,G208R,G415S,G536V,P229T,P541L,P744L,Q426H,Q604H,R173Q,R369H,R403H,R404H,R698G,R768T,T227I,T28M,T738A,V317M,Y262C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51421 3367 dbsnp20204 NP_004148.1 "E324K,H331P,L22M,N344D,P216L,R329C,Y282C" "0,0,0,0,0,0,0" 5576 8197 dbsnp20217 NP_001004737.1 "C53R,H176N,I34N,L115V,L14I,P21R,R122H,T146S,V282L,V40M" "0,0,0,0,0,0,0,0,0,0" 402135 10364 dbsnp20222 NP_001116868.1 S357L 0 729230 9106 dbsnp2024 NP_078907.2 "G395V,M229V" "0,0" 79684 6534 dbsnp20245 NP_058437.1 F324S 0 4968 8071 dbsnp20247 NP_058214.1 M397L 0 4968 8071 dbsnp20249 NP_001131146.2 "A30T,A468S,C568Y,E348D,F351L,H464R,H625R,I386T,K107I,L166F,N296S,N457K,N513K,P453T,Q522L,R3H,R437H,R446Q,R609C,R609G,R609L,R614I,R627C,T358A,V442I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 344787 2403 dbsnp20250 NP_689886.2 "A334T,A424T,D434A,G123R,G343R,I457T,I75V,L273P,M421T,P266S,P419L,P479L,R136G,R136K,R495W,S182G,S500C,T335I,T477M,V18G,V325I,V483M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 3984 dbsnp20255 NP_001106995.1 "A217V,A45T,A521T,D252N,D361E,D602N,E145V,G414R,G628R,I522V,L116F,L241S,N158K,N251I,N454S,P131L,R337K,R51Q,R619Q,R629P,R655Q,S155R,V42M,V617F,V617I,V662A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165631 4292 dbsnp20257 NP_001121695.1 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"0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100131827 2534 dbsnp2026 NP_078926.3 "I387T,L274V,N590K,P631L,R515L,T625I,V311M" "0,0,0,0,0,0,0" 79703 4301 dbsnp20264 XP_938952.6 "G189R,M83I,P106T,P246S,R110K,R254Q,V40M" "0,0,0,0,0,0,0" 646730 11166 dbsnp20279 NP_005326.2 "D166N,D203E,D405E,E388K,G7A,I283L,I54T,K269Q,P218L,P291L,P335L,P419L,R469H,R48H,T181M,T225M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3059 6898 dbsnp20283 NP_001124464.1 "M112V,P18L,R143C,R152H" "0,0,0,0" 5947 13043 dbsnp20284 NP_002890.2 L180P 0 5947 13043 dbsnp20287 NP_733831.1 A6S 0 11186 9815 dbsnp2029 NP_006786.2 "G336R,G65R,I390V,T447I" "0,0,0,0" 10938 5949 dbsnp20291 NP_620161.1 "E335Q,E41K,H200Q,I18T,K112R,R143H,S217G,S334T,T144N,T144P" "0,0,0,0,0,0,0,0,0,0" 131450 9721 dbsnp20304;hgmd0613_2463 NP_937884.1 "A550P,A717P,G1400R,M1355T,M290I,R1216H,R201H,R201L,R305C,R566C,T1394M,T1477M,T741M,Y103C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1981 728 dbsnp20318 NP_005182.1 "F229Y,H222Y,H37P,N82I,R272K,T210A,T233I" "0,0,0,0,0,0,0" 941 11146 dbsnp20321 NP_870989.1 "P904S,V922L" "0,0" 2917 2488 dbsnp20324 NP_003289.2 "D214N,N588S,Q269H,Q545H,R120H,R7H,S347F,V386I" "0,0,0,0,0,0,0,0" 7182 4977 dbsnp20334 NP_060603.2 "A331G,C247G,L182F,M177V,P212T,S281P,S540N,V220I,V220L" "0,0,0,0,0,0,0,0,0" 55167 5464 dbsnp20346 NP_055918.2 "D526E,D904E,E501K,E797K,G531S,G531V,I1877V,L1041V,M1652V,M870I,P469L,P759S,Q721R,R1078H,R1169C,R1214Q,R1691W,R1899Q,R644H,S1923G,S598T,S624L,T573M,T755A,V1104I,V505L,V927L,Y515C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23129 467 dbsnp20356 NP_001157968.1 "A486V,D6H,E1095K,E61G,F779L,G534A,H1657R,I105M,I265M,K1287N,K284N,K363R,K53E,K895E,L1070S,L1245V,L590V,M1171V,M508I,M820V,M892V,N1721K,N445S,N961K,P1185R,P745L,Q1094K,Q87L,R1059Q,R1320H,R1845Q,R557W,R799H,R947Q,S1243L,S1835G,T1717M,V1049G,V1363M,V1809I,V476M,W1441C,Y1147F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55779 523 dbsnp2036 NP_001395.1 "G427C,N431S,T224N" "0,0,0" 1937 7826 dbsnp20367 NP_003411.3 "A73V,I260T,K189E,N193T,S139P,T2S,T54P,V238I,V45I,W14L" "0,0,0,0,0,0,0,0,0,0" 7584 6184 dbsnp20368 NP_001008737.1 "C60Y,H33R,H96P,R24Q" "0,0,0,0" 401052 14432 dbsnp2037 NP_001182566.1 "R29Q,V13I" "0,0" 100500938 14887 dbsnp20371 NP_006605.2 S235L 0 10752 1349 dbsnp20374 NP_001121691.1 "I38M,I57V,L121P,M119V,P55S,R85C,V115A" "0,0,0,0,0,0,0" 9686 10964 dbsnp20379 NP_001243276.1 R14K 0 54437 1405 dbsnp20383 NP_065843.3 "A48T,K103Q,M211V,N291S,Q30R,V51F" "0,0,0,0,0,0" 57552 7633 dbsnp20394 NP_003169.2 Q460R 0 6854 4040 dbsnp20395 NP_001019831.2 "A1861S,A1865T,A2726S,A347T,A424S,A974T,D1338N,E1326D,E2310K,E2655K,E585Q,G2306R,G2345D,K2143Q,N2973S,N329D,P1695Q,P1758L,P2750A,Q1790R,R1930M,R2027H,R2411Q,R520Q,S1893L,S2028A,S2946F,S724L,S727T,V1271I,V1363I,V2032I,V965M,Y2130C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8997 149 dbsnp20398 NP_001185722.1 "D184N,D193V,D216H,D277N,D517N,D608N,E259Q,G201R,K383E,M563R,N479H,Q300P,R416C,R416H,R507Q,R562Q,V412M,W463L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100526693 2525 dbsnp20403 NP_001230028.1 V369M 0 3568 8149 dbsnp20411 NP_001159776.1 R187W 0 54965 11356 dbsnp20413 NP_056039.2 "D1125E,N1107S" "0,0" 23272 670 dbsnp20414 NP_001161744.1 Q1719H 0 3708 182 dbsnp20423 NP_001026887.1 "M379T,Q405E,R365H,T387I" "0,0,0,0" 78987 8124 dbsnp20443 NP_149976.1 "A43T,Q89L" "0,0" 90226 14519 dbsnp20446 NP_001091986.1 "A299T,A389T,D399A,G308R,G88R,I40V,I422T,L238P,M386T,P231S,P384L,P444L,R101G,R101K,R460W,S147G,S465C,T300I,T442M,V290I,V448M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 3984 dbsnp20458;dbsnp20459 NP_001182412.1;NP_078904.3 "C410Y,D569V,E217K,R478S,W535G" "0,0,0,0,0" 84561 3926 dbsnp20466 NP_001182152.1 "G204S,I179T,I72R,L9P,M27L,N155D,R163Q,R189W,S159L,S85F,T73I,V105A,V108M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 200810 7313 dbsnp20468 NP_001124382.1 "F179Y,I255V,M1I,R5H,V180M,Y16C" "0,0,0,0,0,0" 9034 9530 dbsnp20471 NP_001011537.2 "I203M,P3A,R61H,S239N" "0,0,0,0" 84248 10441 dbsnp20473;dbsnp20474 NP_689495.1;NP_001032249.1 "E75K,F342L,L180P,L391V,P384T,R359Q,R441H,S383L,T432A,V419I" "0,0,0,0,0,0,0,0,0,0" 92370 7011 dbsnp20486 NP_001164645.1 "A7V,F8L,P4A" "0,0,0" 1524 8865 dbsnp20489 NP_004479.1 "A219T,A45E,G357R,M289I,P91A,W522R" "0,0,0,0,0,0" 2814 5691 dbsnp20490 NP_001073982.2 "A204V,A252V,A493T,A5G,H255P,I253V,I538T,K362R,L144V,P233S,R509W,R541L,R89K,S194N,S528G,S60L,T51M,V30I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1370 5912 dbsnp2050 NP_149084.2 "R305Q,R307W" "0,0" 85363 2945 dbsnp20503 NP_001094807.1 "M1I,T82I" "0,0" 152118 14652 dbsnp20510 NP_001171616.1 M1L 0 285313 208 dbsnp20515 NP_001184043.1 "E150K,R156S,V444I" "0,0,0" 100505385 5644 dbsnp20518 NP_056244.2 "E314D,E314K,G490R,M1V,P639L,R120H,T512I,V769L" "0,0,0,0,0,0,0,0" 25890 1802 dbsnp2052 NP_001003819.1 "C318F,C735Y,D636H,E170D,E182K,E493D,E496D,F570S,I754M,M623I,N758K,P684T,Q217H,R108W,S55C,S55I,S779Y,T566M,T630S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 445372 2945 dbsnp20525 NP_001139475.1 "A573V,K577R" "0,0" 79858 4638 dbsnp20544 NP_001161375.1 "A21T,E210A,I230V,L201H,L23V,L242P,M326K,P73S,V183M,Y376C" "0,0,0,0,0,0,0,0,0,0" 64747 6417 dbsnp20548 NP_001191760.1 "C603Y,P619T,S607P" "0,0,0" 55129 4482 dbsnp20566 NP_001243748.1 "H100Y,P90T" "0,0" 7401 12021 dbsnp20579 NP_001138432.1 "A413S,C497R,D111Y,E220K,I205T,I306M,N141K,R228Q,R45W,R530Q,S386G,V290I,V449I,W319R,Y127C,Y496C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389161 5933 dbsnp2061 NP_612351.2 "A308T,A617E,G203D,G309S,G319R,G404E,L403V,N424D,N424Y,R134H,R189H,S285L,T13A,T261A,T624M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89944 4557 dbsnp20617 NP_001020376.1 "E177D,K222N" "0,0" 1173 7872 dbsnp20619 NP_055938.1 "A541G,A541V,A893S,E173D,N770T,P614L,Q110E,Q832E,R371G,R759H,S947L,S969W" "0,0,0,0,0,0,0,0,0,0,0,0" 23150 1967 dbsnp2064 NP_065744.2 "A1988T,A2103T,A2105V,A734T,G266R,H232N,H854Y,K1506E,R1400Q,R1977C,R1991Q,R515H,S1542G,T399M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57453 372 dbsnp20642 NP_001073917.2 "A805V,A943T,P7S,R162T" "0,0,0,0" 285220 1629 dbsnp20643 NP_775926.1 L328F 0 285220 1629 dbsnp20645 NP_847898.1 R19K 0 1232 9085 dbsnp20655 XP_936241.3 "G170A,G64A,H175N,K167N,L176F,M1V,N183T" "0,0,0,0,0,0,0" 642891 12542 dbsnp20656 NP_940966.2 W450C 0 201625 135 dbsnp20666 NP_115707.2 "F119L,G68R,H101Y,K216E,L78F,R115Q,R170W,T132M,V127A,Y190C" "0,0,0,0,0,0,0,0,0,0" 9718 2698 dbsnp20669 NP_116287.2 "M3V,N58S,R99Q" "0,0,0" 84984 13604 dbsnp20670 NP_115545.3 "A646D,E381K,G281R,I46T,I551V,I97T,K414T,K488N,P16S,P418R,R127Q,R130C,R607Q,R678C,R751C,T111N,T576I,T655I,V120I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84129 3359 dbsnp2068 NP_037431.3 "E345K,F277I,R230C,R260C,R94C" "0,0,0,0,0" 29901 8501 dbsnp20688 NP_778226.1 "I28F,N45S,P327L,Q236K,S388R,S401G,T213A,T341M" "0,0,0,0,0,0,0,0" 131368 7940 dbsnp20690 NP_001191826.1 "I151T,T196A" "0,0" 116211 12088 dbsnp20694 NP_001185903.2 "A248T,D310E,Q77K,V125I" "0,0,0,0" 100526772 9175 dbsnp20698 NP_001166250.1 "C274F,D421N,E166K,G196R,K279E,L134H,L286I,M405I,P49L,Q373P,R297H,S249G,S330F,S382T,V369A,V420A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151827 7332 dbsnp20699 NP_872434.2 "A197T,A198G,A567D,A567T,E194K,E468K,E533K,G320D,G494S,M333T,P345L,P5L,P5Q,Q68K,R169W,R216G,R233Q,R337Q,R564Q,R566H,R582H,T332M,V212L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348807 5015 dbsnp20704 NP_006506.3 "A662T,C678F,D126G,D238A,E117Q,H280L,H593Q,P44S,Q134L,R408Q,R482C,R572H,R91H,V308I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6419 4238 dbsnp2071 NP_115503.2 T492M 0 84067 2156 dbsnp20717 NP_115731.2 "A610V,G120V,G609S,S107N,T486A" "0,0,0,0,0" 84315 4576 dbsnp20719 NP_001129521.2 "E106D,K422Q,Q595K,R153W,R189H,T4A,T54P" "0,0,0,0,0,0,0" 89782 4148 dbsnp2072 NP_001164161.1 "R550T,T535N,T559I,T559N" "0,0,0,0" 57758 2114 dbsnp20721 NP_852091.1 "A202T,E777K,L158V,P794L,Q744E,R294G,R78H,R811H,S116T,S756N,T182S,T358I,T760A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 339829 2390 dbsnp20725 NP_001123473.1 "I123T,T121S,V4L" "0,0,0" 152078 14165 dbsnp2073 NP_066025.2 "A50V,A883V,D212N,D59E,D832E,D832N,E664K,G222S,N108D,N331H,P728S,P815A,P815R,R255Q,R615H,R651C,S171L,S481F,T285M,T421I,T421K,T620M,T65A,T709I,T763S,V146F,V146L,V342M,V625I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57758 2114 dbsnp20740 XP_001130287.3 "C197F,G29S,G98V,N178I,T103S" "0,0,0,0,0" - 12992 dbsnp20741 NP_004982.2 "A154S,A889G,A889T,C1128Y,D452A,H981Y,H996R,I1150V,P120S,Q295R,R114K,T448S" "0,0,0,0,0,0,0,0,0,0,0,0" 2122 1313 dbsnp20742 XP_002342431.3 "E69K,M1T,R3W" "0,0,0" 100287852 14128 dbsnp20746;hgmd0613_2249 NP_570850.2 A250T 0 4976 2048 dbsnp20749 NP_001243543.1 "A456T,A459T,A86T,D214E,E242K,E394G,G407R,K179Q,L333V,L451V,P152L,R12C,R232Q,R371W,R463H,V317I,V63G,W225R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285242 6973 dbsnp20753 NP_060024.2 "A1513V,A561E,D488N,G1687S,N1297S,R450K,S1081G,T631A" "0,0,0,0,0,0,0,0" 54625 560 dbsnp20757 NP_284941.2 "C327R,G309R,H221Y,I48L,Q315R,R226Q,R630G" "0,0,0,0,0,0,0" 55669 3541 dbsnp20769 NP_060763.2 "A558T,I294T,P446L,S374A" "0,0,0,0" 55279 5400 dbsnp20771 NP_861445.3 "K184E,N197T" "0,0" 151888 11121 dbsnp20776 NP_751892.1 "A29P,G30R,P212L,P346A,R64H,S34C,S79R" "0,0,0,0,0,0,0" 7881 8185 dbsnp2078 NP_005779.1 "A210V,D35E,F254L,I297L,K509R,K510R,L440V,S470C,Y346H" "0,0,0,0,0,0,0,0,0" 10196 6108 dbsnp20780 NP_203528.2 "A656T,D42H,D748G,E113G,E760A,H30Y,N717Y,P382R,Q370H,R102Q,R229Q,R303H,R318Q,R377H,R465H,R552W,R608W,S253T,S320C,T734M,V446I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89876 3463 dbsnp20788 NP_001182371.1 "H33R,L9F,R19H,R20W,R25Q,R8Q" "0,0,0,0,0,0" 100132146 14769 dbsnp20789 NP_055635.3 "G97V,P398L,R193C,S455Y,T451M" "0,0,0,0,0" 9868 5046 dbsnp20795 NP_001166184.1 N55S 0 2803 320 dbsnp20798 NP_976248.1 "E170K,M136V,P146L,R107L,R255C" "0,0,0,0,0" 389119 11167 dbsnp20803 NP_001138554.1 "C389R,E160Q,G528W,G64R,N312S,P271R,Q263H,R376Q,T62I,V27G,V76A" "0,0,0,0,0,0,0,0,0,0,0" 285267 4964 dbsnp20816 NP_955379.2 "C437W,G67S,L513S,N401S,N659S,R221Q,R365Q,R704H,V38I" "0,0,0,0,0,0,0,0,0" 152110 1502 dbsnp20819 NP_001137305.2 "E29K,L28M,R4Q,R4W,R84Q,Y91C" "0,0,0,0,0,0" 440956 13652 dbsnp20822 NP_005042.1 "A183T,A204T,D106N,D754G,L9I,N285S,P708L,R134W,R225W,R427H,S587F,V416I,V476I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5859 3412 dbsnp20825 NP_619520.1 "A113V,I173V,P970S,V556I" "0,0,0,0" 22907 1434 dbsnp20828 NP_006398.1 "R142Q,S138L,S138W" "0,0,0" 10550 13219 dbsnp20829 NP_001008485.1 V71M 0 54946 6528 dbsnp20833 NP_079147.1 "G171C,G171S" "0,0" 79929 12993 dbsnp20835 NP_942088.1 "A96P,C33Y,V198I" "0,0,0" 961 10340 dbsnp20837 NP_055629.1 "E232D,G341R,T223A,V220A,Y53F" "0,0,0,0,0" 9861 8824 dbsnp20841;dbsnp20842 NP_064572.2;NP_001006109.1 "E343K,E60D,G133E,I155L,R106Q,R74H,R74L,W168C" "0,0,0,0,0,0,0,0" 56941 9571 dbsnp20844 NP_001186089.1 "A657V,D36H,D420E,K176N,R216Q,R216W,T1042A" "0,0,0,0,0,0,0" 10869 956 dbsnp20861 NP_775817.1 M1V 0 200942 9572 dbsnp20864 NP_001243671.1 "A71G,G49R,I46V,I595V,K33I,M354T,P796S,S41L,T408S,Y601F" "0,0,0,0,0,0,0,0,0,0" 25904 3183 dbsnp20866 NP_001171611.1 G5V 0 7029 7654 dbsnp20872 NP_001177740.1 "P19S,R13C" "0,0" 1618 10541 dbsnp20875;dbsnp20877 NP_001172047.1;NP_061127.1 "A173V,A185G,D530N,K180R" "0,0,0,0" 55892 5025 dbsnp20887 NP_001182399.1 G621S 0 6304 3252 dbsnp20890 NP_612419.1 "F146S,G21R,R101H" "0,0,0" 112616 13466 dbsnp20896 NP_001122401.1 R7S 0 6092 989 dbsnp20909 NP_201573.1 "D287G,R263H" "0,0" 4241 3717 dbsnp20910 NP_542383.1 "A215V,E50G,G192R,G236E,P235L,Y196H" "0,0,0,0,0,0" 90407 11614 dbsnp20914 NP_071503.1 "A12V,F87L,H69Q,N95K,Q54H" "0,0,0,0,0" 6988 14614 dbsnp20916 NP_001192200.1 "F88S,L8V,P5L,S107T,V78I" "0,0,0,0,0" 100287362 13480 dbsnp2092 XP_001723286.3 "A285D,A83V,H194N,I276T,I55K,K86E,M104T,M89L,P227S,R189Q,R189W,S146R,T223I,T249S,T279I,W255C,Y32H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 10859 dbsnp20929 NP_060873.4 "A268T,A297G,H580P,L198P,L395F,P332T,P333L,Q18H,Q474H,R138W,R337Q,V381A" "0,0,0,0,0,0,0,0,0,0,0,0" 55802 5384 dbsnp2093 NP_060105.3 "A46T,D634N,I743V,K549R,N433S,N756S,R65H,T569M" "0,0,0,0,0,0,0,0" 51111 2692 dbsnp20930 NP_060501.3 "D172N,G53V,G728S,M1111I,R1063H,R290C,R375H,R476H,R541H,R928Q,S368L,V1053M,V590A,V681I,V723M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11180 1552 dbsnp20949 NP_001093590.1 T73I 0 9718 2698 dbsnp20951 NP_079103.2 "N336S,P343H,Q117H,R221Q,R310H,Y20F" "0,0,0,0,0,0" 79885 9746 dbsnp20958 NP_001161147.1 K25N 0 253559 7831 dbsnp20960 NP_001140158.1 "A139T,D202G,E239Q,E28K,I265V,N235H,R318H,S29P,T250R,T35M" "0,0,0,0,0,0,0,0,0,0" 647309 10058 dbsnp20964 NP_003707.2 "A262T,A414S,I1113S,I873T,K1218R,N849S,R884H,T1317M,T442I,T795A,V395M,V837D" "0,0,0,0,0,0,0,0,0,0,0,0" 8618 1063 dbsnp20967 NP_940865.1 "A266T,D304E,E537K,G104R,G258R,K242R,L189F,N38Y,P222L,Q293E,Q341H,R411Q,R516H,R97H,S158R,S404N,T46P,V387M,Y61C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200844 4175 dbsnp20968 XP_496663.2 "G60V,P13L,P83R" "0,0,0" 440981 13519 dbsnp20969 NP_079223.3 "A783S,I509V,K745E,N447D" "0,0,0,0" 80012 2125 dbsnp20971 NP_073594.4 "G691S,I823V,K655N,M177L,M177T,N432D,N625S,N625T,R369Q,R454Q,R586H,R586L,S614R,S792F,T324P,Y166D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64770 2317 dbsnp20993 NP_001165218.1 "I111V,K49R,L66P,M1V,R247C" "0,0,0,0,0" 79669 11922 dbsnp20994 NP_078892.2 Y137H 0 79669 11922 dbsnp20996 NP_001059.2 "D1375A,E1612D,H204L,H977L,I376V,L746I,P1500T,P1567L,T1314A,T1563A" "0,0,0,0,0,0,0,0,0,0" 7155 704 dbsnp20999 NP_001238812.1 R5Q 0 7433 7451 dbsnp2100 NP_001008781.2 "A3418S,A3607T,A3704V,A3763V,A3964T,A4443P,A4443T,A512T,C356Y,C4480Y,D2125E,D4449G,D908N,E2400G,E3247K,F715C,H2359Y,H3642P,I1306T,I1469V,I1656T,I1693V,I2019V,I2755V,I2794F,I3329V,I3719M,I462L,I462V,L2102M,L2977M,L411F,L4539V,L4544F,L967M,M1158I,N1752S,N2202D,N2293I,N2293S,N244S,P1231S,P4319R,Q1726R,Q2459R,Q2995K,Q3680L,R1011Q,R1108Q,R3674W,R3778C,R3942W,R3974Q,R894Q,R972C,S1858I,S3709I,S3812G,S412F,T2764I,T3766I,V1167G,V2622F,V268G,V2829A,V2910F,V2945I,V3518L,V3518M,V4150A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120114 48 dbsnp21001 NP_001177246.1 "A56T,D140G,D140V,N94S,P26L,P49L,P7S,R28Q,S18F,V75I" "0,0,0,0,0,0,0,0,0,0" 51447 13220 dbsnp21003 NP_001002026.1 "M1V,V12M" "0,0" 51208 11671 dbsnp21006 NP_001073892.2 "A130T,A574T,A719T,G748S,G760R,I681V,N609S,P57S,R1127W,R1130Q,R508C,R710C,T930M,V1091I,V655M,V663M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80852 1588 dbsnp21008 NP_001127854.1 A1023P 0 9922 848 dbsnp21013 NP_001127666.1 R406C 0 55 8221 dbsnp21014 NP_689986.2 "E55G,R110C,S4T,V95L" "0,0,0,0" 255758 14063 dbsnp21015 NP_006536.3 "D214H,P17L" "0,0" 10641 8986 dbsnp21018 NP_808807.2 "A233T,D447N,I227V,L370R,Q213K,R291C,S226N" "0,0,0,0,0,0,0" 54681 5645 dbsnp21023 NP_776186.2 "R184Q,V123G,Y60C" "0,0,0" 285282 12215 dbsnp21025 NP_005679.2 "H477R,N1068S,R147G,R42Q,S501Y" "0,0,0,0,0" 10057 923 dbsnp21040 NP_653317.2 "E138D,E61K,E63G,R143Q,V111I" "0,0,0,0,0" 151903 13385 dbsnp21041 NP_003661.1 "A209T,L254F,M199T,M271V,P310A,P310T" "0,0,0,0,0,0" 8553 8351 dbsnp21048;hgmd0613_2185 NP_116195.2 "D372N,F132L,L388F,L435P,N163S,R225Q,R407W,R40Q,R462L,R462W,R463H,V122M,V464M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84892 5415 dbsnp21053 NP_078784.2 "A187V,C202R,E21D,E33D,E7K,N73D,R162K,R4Q,R67C" "0,0,0,0,0,0,0,0,0" 79413 12582 dbsnp21064 NP_056014.2 "L659V,N1029S,N448S,S880G,T784M" "0,0,0,0,0" 23243 1883 dbsnp2107 NP_937828.3 "A412P,F228V,G257D,G381E,G413R,H352Q,I124T,I143F,I3T,N410Y,P292S,P389L,Q526H,R19Q,R504W,S134C,T24A,T539I,V404I,V58E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341277 5619 dbsnp21078 NP_037466.2 "D27H,H126D,R296Q" "0,0,0" 29925 8866 dbsnp21080 NP_003253.1 "E321D,K393T,N31S" "0,0,0" 7095 8614 dbsnp21085 NP_078914.1 "A210V,C151Y,C263F,C263Y,E281K,K402R,P102S,R361W,V56F" "0,0,0,0,0,0,0,0,0" 79691 8008 dbsnp21089 NP_001138423.1 T223A 0 132158 6237 dbsnp21092 NP_054784.2 "A219V,C581S,F608C,H650Q,I193V,I417M,I678V,N275S,R660W,V494M,Y606H" "0,0,0,0,0,0,0,0,0,0,0" 28990 4282 dbsnp21095 NP_001036111.1 "C713R,D474N,E517K,E621K,G455V,G558S,G8R,L96F,M371V,M434I,N911S,P484L,P783R,Q134H,Q415R,R165Q,R641H,S289L,S432L,T557S,Y207C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22906 2325 dbsnp21099 NP_570720.1 "H102R,I98V,P557L" "0,0,0" 131034 4764 dbsnp2110 NP_775855.3 "G173S,K153E,Q67L,R77Q,S248I" "0,0,0,0,0" 283229 8602 dbsnp21103 NP_060783.3 "A1292S,A1512V,A488S,G585R,I613T,P1429L,R365C,S941L,V1420M" "0,0,0,0,0,0,0,0,0" 55193 652 dbsnp21107;dbsnp21108 NP_001229758.1;NP_695005.1 "N15S,Y12H" "0,0" 9807 7756 dbsnp21115 NP_057300.2 "A544V,D349G,E428Q,G27S,G446D,N297I,N364S,R133Q,S451L,T292M" "0,0,0,0,0,0,0,0,0,0" 51163 5934 dbsnp21120 NP_848649.3 "E522K,R209H,V186A" "0,0,0" 339855 4474 dbsnp21121;hgmd0613_1577 NP_009090.2 "Q534R,Q630R,R714Q,R776P,R776Q,S724C,T64M,V275A" "0,0,0,0,0,0,0,0" 7871 3141 dbsnp21122 NP_116162.1 "A425V,C148Y,D507N,E621K,K431N,P284L,P522L,R437K,R663C" "0,0,0,0,0,0,0,0,0" 84859 3390 dbsnp21128 NP_001139114.1 "A828T,E287K,G84R,N808S,P217T,R17H,R29Q,R80Q,S290N,T664M" "0,0,0,0,0,0,0,0,0,0" 9711 2230 dbsnp21139 NP_001036069.1 "A1639T,A306V,A521V,C601Y,D1137N,G1506S,H1270R,H299Y,I836V,K1494E,K499Q,N1278S,N371S,P1222A,P1251S,P319S,R1177H,S1279R,S674G,V1259A,V238L,V814A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 636 dbsnp21140 NP_787084.1 "C201R,D73N,E81D,L72F,P10S,P120T,P335S,Q269L,Q355H,T55I" "0,0,0,0,0,0,0,0,0,0" 253639 8125 dbsnp21144 NP_055111.1 "A128T,I110V,L248P,R343K,S362A" "0,0,0,0,0" 23473 3126 dbsnp21145 NP_065736.1 "I61M,L102V,L33M,N124S" "0,0,0,0" 57415 14286 dbsnp21148 NP_001136118.1 "A180V,I79V,I81M,P17S,P226L,R269G,S25G,S67F,V104M,V196A" "0,0,0,0,0,0,0,0,0,0" 131601 9149 dbsnp21149;dbsnp21150 NP_057456.2;NP_001129525.1 "I371M,R281W" "0,0" 131601 9149 dbsnp21151;dbsnp21152 NP_872328.1;NP_001005527.1 "R2K,R40W,R70W,S92A,V58M" "0,0,0,0,0" 151647 14097 dbsnp21153;dbsnp21154 NP_954635.1;NP_000679.1 "A44S,I407V,P43S,P86R,Q16H,R13Q,R295Q,S3G" "0,0,0,0,0,0,0,0" 211 4700 dbsnp21161 NP_115881.3 "A135T,I82V,M1V" "0,0,0" 84522 13320 dbsnp21171;hgmd0613_2395 NP_775925.1 "D441E,K188I,P24R,R200C,R200G,R321G,R41C,R41L,S17N,T193I,T59S" "0,0,0,0,0,0,0,0,0,0,0" 285203 7716 dbsnp21175 NP_006232.1 "N153S,T185M" "0,0" 5504 12868 dbsnp21180 NP_005784.1 "A150E,A32T,D121Y,E165D,E165K,R160H,T105M" "0,0,0,0,0,0,0" 10201 13114 dbsnp21193 NP_942015.1 "A473V,D130N,D175H,K447N,R415C" "0,0,0,0,0" 386724 6596 dbsnp21194 NP_775463.1 "A265E,I184T,K211E,K211R,N336H,R320H,S16P" "0,0,0,0,0,0,0" - 8958 dbsnp21200 NP_115618.3 "A1262T,D551E,E504K,I300V,R1877Q,R1878W,R571C,R614W,R618H,R897H,S110N,S1635G,T1220M,V349L,V609I,V902L,V921I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5361 491 dbsnp21201 NP_060868.2 "A1070V,A411S,E300K,E636K,E809G,I340V,N553D,T732M,Y924C" "0,0,0,0,0,0,0,0,0" 55799 1594 dbsnp21204 NP_149074.3 "I33V,P155S,P155T,P222L,R233M,R242Q,S158F,V236I,V52A" "0,0,0,0,0,0,0,0,0" 85403 11530 dbsnp21205 NP_036392.2 "A318T,E519K,G221R,G424R,G459R,I151F,Q61L,R211K,R565Q,S143G,V438L,Y72F" "0,0,0,0,0,0,0,0,0,0,0,0" 26061 5454 dbsnp21208;dbsnp21209;dbsnp21210;dbsnp21211;dbsnp21212;dbsnp21213;dbsnp21214;dbsnp21215;dbsnp21216;dbsnp21217;dbsnp21218;dbsnp21219;dbsnp21220;hgmd0613_1195 NP_004384.4;NP_001171105.1;NP_001159400.2;NP_001171109.1;NP_001171108.1;NP_001171107.1;NP_001171106.1;NP_001171112.1;NP_001171113.1;NP_001171111.1;NP_001171110.1;NP_001171114.1;NP_001171115.1 "D111N,I82V,I87V,I93T,L540V,L86F,P827S,R679H,S744T,T200S,T341I,T436M" "0,0,0,0,0,0,0,0,0,0,0,0" 1605 2635 dbsnp21221 NP_001286.1 "A159V,A290T,K94Q,R319H,S70N,Y291H" "0,0,0,0,0,0" 1230 9085 dbsnp21222 NP_004336.3 "K148R,M4T,R143W,R15Q" "0,0,0,0" 820 13499 dbsnp21228 NP_001129624.1 "A173V,A8V,H182Y,P40L,P50S,R191C,R54Q,R73W,T104I,T58M" "0,0,0,0,0,0,0,0,0,0" 644974 7313 dbsnp21230;dbsnp21231 NP_955805.1;NP_955806.1 "A143V,A340G,A559S,A805V,G474S,H473Y,H540Q,L341F,N140K,N413T,P397S,R367Q,R462H,S32N,S79T,T241M,T362S,V402A,Y938H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151887 2348 dbsnp21232 NP_004180.1 "G109S,S147R" "0,0" 8403 11350 dbsnp21233 NP_695013.1 "A227T,A426G,D17H,E90D,G256R,P393A,R108H,R136C,T392M" "0,0,0,0,0,0,0,0,0" 3373 7849 dbsnp21237;dbsnp21238 NP_057375.2;NP_001005909.1 "H175Q,N273H,V343A" "0,0,0" 51447 13220 dbsnp21241;dbsnp21242 NP_001139650.1;NP_001139651.1 L87W 0 51447 13220 dbsnp21243 NP_954652.2 "G81A,I190V,P130L,T103N,V179M" "0,0,0,0,0" 377047 12379 dbsnp21247 NP_078824.2 "A285T,F856L,I529T,L399F,L428V,R468I,R59Q,R741I,S295N,S658T,V319L,V3G,V408F,Y577C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79598 2802 dbsnp21248;hgmd0613_2222 NP_443711.2 "A1095V,A966V,D469N,E699A,I1049V,I1133V,I257T,K326N,K816T,L106M,N204S,N488S,R1021C,R328W,R476W,R569H,R724Q,R738Q,S397C,S397F,S419N,S72A,V1215M,V560A,Y626N,Y968D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55764 1178 dbsnp21250 NP_776185.2 "A95T,H220R,I82V,Q187P,R139H,R139L,R68Q,S296R,V262L,V70I" "0,0,0,0,0,0,0,0,0,0" 285237 10180 dbsnp21253;dbsnp21254 NP_775743.1;NP_001158311.1 "A125S,L57V,L64P,L79W,L96F,P43L,P93R,R132T,S121P,Y4C" "0,0,0,0,0,0,0,0,0,0" 115795 13426 dbsnp21259 NP_742024.1 "D328N,D33V,K406E,P311S,R236C,R32W,R386H,R86H,S314L,V132I" "0,0,0,0,0,0,0,0,0,0" 80325 7050 dbsnp2126 NP_060837.3 "I181V,I64V,V52I" "0,0,0" 55331 11551 dbsnp21263 NP_001004316.2 "A264V,A407G,A411T,A464S,G669S,I338L,I660V,K391E,R485W,R60C,R624S,S579T" "0,0,0,0,0,0,0,0,0,0,0,0" 389170 4149 dbsnp21264 NP_848591.2 "G444R,G445E,H170R,R230C,Y189C" "0,0,0,0,0" 151963 6831 dbsnp21265;dbsnp21266 NP_942581.1;NP_060200.2 "N735H,N771S" "0,0" 54870 3402 dbsnp21267 NP_115692.1 H191R 0 84276 12685 dbsnp21268 NP_001099050.1 "F276C,G80R,H266D,M213T,N255D,P82S,R421L,T179M,Y207C" "0,0,0,0,0,0,0,0,0" 200959 6854 dbsnp21269 NP_055044.1 "A525V,D301E,H142Y,M519T,P509R,R597Q,S603R,T572I,V256L,V273I" "0,0,0,0,0,0,0,0,0,0" 6538 4740 dbsnp21270 NP_005117.3 "A451T,C301Y,C337G,E214K,E273G,E285K,G205D,H298D,I238N,K457R,N332S,T538S" "0,0,0,0,0,0,0,0,0,0,0,0" 9975 5426 dbsnp21272 NP_543138.1 "G203S,R61H,S176L,V199M" "0,0,0,0" 92369 11419 dbsnp21273;hgmd0613_2451 NP_899200.1 "A304T,A882V,E634D,E940K,P10L,P1259L,Q875R,T990M,V392M,V783M,V949M,Y793H" "0,0,0,0,0,0,0,0,0,0,0,0" 111 1250 dbsnp21276 NP_061942.2 "D8G,G115E,I289T,L278V,N20S,Q12P,T41M" "0,0,0,0,0,0,0" 54554 10050 dbsnp21279 NP_689891.1 "A77S,R342C,R342H,R570P,T605M,Y439C" "0,0,0,0,0,0" 201627 5047 dbsnp21280 NP_997242.2 "A438T,A460T,C341R,D372Y,E292K,E513D,E93K,F391L,P485S,R323W,R487Q,R494H,S207L,S358C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339896 6287 dbsnp21282 NP_055912.2 "A186T,D949Y,G210E,L163P,N345S,R625Q,R857H,S598N,T1116I,Y1303C" "0,0,0,0,0,0,0,0,0,0" 23122 787 dbsnp21283 XP_003403469.1 "A148T,D576E,E85G,H177R,K106E,P203R,R391W,R96Q,S285L,T415M,V27A,V573M,V596I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 100132731 5048 dbsnp21284 NP_001001850.1 "A38G,L283P,R107S,R142C,S24A,T253A" "0,0,0,0,0,0" 415117 11014 dbsnp21285 NP_001020437.1 "N174D,P150L,P152S,Y145H" "0,0,0,0" 285382 11923 dbsnp21287 NP_056335.1 "P1271T,T1276K" "0,0" 9223 883 dbsnp21288 NP_001028229.1 "A1221T,A608T,D254V,F1200S,H10N,H114R,H1218Q,H261R,I375V,L1337V,M651I,N230D,N230S,P1213H,P921L,Q413E,Q413K,R1195H,S255T,T1330S,T281R,T31K,T31M,T764P,V20M,V616M,Y182F,Y186S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9223 883 dbsnp21289 NP_006497.2 "E126D,I535V,L769F,Q708H,V381G,V654I" "0,0,0,0,0,0" 5922 2904 dbsnp2129 NP_001157851.1 "A145T,M1T,R131L,T35S,V129I" "0,0,0,0,0" 399888 12452 dbsnp21290 NP_057415.1 "D95G,E161G,H356R,I140V,I261L,K70E,N353S" "0,0,0,0,0,0,0" 51193 6925 dbsnp21291 NP_653242.3 "G129S,G453D,H301Q,H411Y,P248S,R183K,R242W,V442I" "0,0,0,0,0,0,0,0" 132160 7425 dbsnp21293 NP_940967.1 "A529P,D540E,G203S,G24R,L151F,M365L,R182S,R587Q,R60Q,V417I,V630L,V630M,V654M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 375387 4150 dbsnp21294 NP_056377.1 "I196V,I294L" "0,0" 26043 6864 dbsnp21295 NP_710157.2 "E293Q,E294Q,E297K" "0,0,0" 131583 8095 dbsnp21297 NP_001186908.1 "A280V,F4S,I55F,P80L,R135Q,R140Q,R252S,T199R,V103G,V276M" "0,0,0,0,0,0,0,0,0,0" 57047 10433 dbsnp21300 NP_055188.1 "H229R,Q14E,V65I" "0,0,0" 26996 9957 dbsnp21301 NP_835471.1 "A140T,P71L,P71S,T197I" "0,0,0,0" 349565 12645 dbsnp21302 NP_001136205.2 "A145G,D274E,E99V,I10T,I300T,I97N,L68F,N144D,N564S,R237W,R552C,R552H,R565C,S213G,S73C,T101I,T305M,V340M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 142686 5300 dbsnp21304 NP_003866.1 "I550M,K120Q,S122C,Y528S" "0,0,0,0" 8833 4138 dbsnp21305;hgmd0613_1993 NP_067642.1 "D38G,R15Q,T223M,V276I,V320I" "0,0,0,0,0" 59345 8679 dbsnp21306 NP_008922.1 "C960G,D278H,E316G,E875K,E875Q,G688S,P425L,R475C,S29N,V145L,Y454F" "0,0,0,0,0,0,0,0,0,0,0" 10168 1987 dbsnp21308 NP_443115.1 "A154P,C93R,E544K,G477D,H282R,I160T,I628M,K212I,N588K,R261S,T246A" "0,0,0,0,0,0,0,0,0,0,0" 114112 4598 dbsnp21312 NP_001172035.1 "C215R,P41A,R291H,T285M,V4F" "0,0,0,0,0" 257068 10765 dbsnp21313;dbsnp21314;dbsnp21315;dbsnp21316;dbsnp21317 NP_940892.1;NP_001191813.1;NP_001191812.1;NP_001191815.1;NP_001191814.1 E137K 0 339122 12602 dbsnp21319 NP_001244106.1 "E28G,M107I,R62H,S13G,S32R,S43L" "0,0,0,0,0,0" 339862 14508 dbsnp2131;dbsnp2132;dbsnp2133;dbsnp2134;dbsnp2135;dbsnp2136 NP_001245250.1;NP_001245251.1;NP_001245252.1;NP_001245253.1;NP_001245249.1;NP_006025.2 F67L 0 9537 13190 dbsnp21322 NP_001161850.1 "A184G,A219G,G215S,R21K,S350W" "0,0,0,0,0" 84107 4450 dbsnp21324 XP_001717596.2 "C192Y,G501R,K124N,N442D,R288Q,R42H,S172L,S339R" "0,0,0,0,0,0,0,0" - 3578 dbsnp21326 NP_775107.1 "E197K,H260R,I277V,M225T,Q88H,R258C,W157L" "0,0,0,0,0,0,0" 286827 8532 dbsnp21327;dbsnp21328 NP_065084.2;NP_001841.2 "A250T,G695D,I192T,P105H,P476L,R237Q,R362Q" "0,0,0,0,0,0,0" 1295 3668 dbsnp21331 NP_055780.2 V604L 0 22906 2325 dbsnp21337 XP_002342446.2 "A48V,L61R,T7A" "0,0,0" - 14880 dbsnp21338 NP_001074006.1 K52R 0 132203 13985 dbsnp21339 NP_001034872.1 "P12L,S30I" "0,0" 645840 14205 dbsnp21340 NP_775929.2 "G200D,K76R,R97Q" "0,0,0" 285349 3511 dbsnp21341 NP_001005217.1 "A258T,P243L,T109R" "0,0,0" 448831 11228 dbsnp21343 NP_597719.1 "C634S,E268G,E614K,E683D,H505Y,K447T,N28S,S172F,S69F,T670S,V726A" "0,0,0,0,0,0,0,0,0,0,0" 151613 3448 dbsnp21346 NP_001161403.1 N633S 0 3556 4195 dbsnp21349 NP_001124432.1 "D1093N,D1165E,D330N,E948K,G1063S,G1241S,G688R,I1200T,I992T,K531N,M1236V,M595I,P1113S,P1619T,P984S,R1414H,R33C,R546Q,T522M,V617M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23007 645 dbsnp21353 NP_001177188.1 "M26I,Q63H,R13Q,R157I,S104F,W50R" "0,0,0,0,0,0" 257144 13367 dbsnp21357 NP_001078920.1 "C64R,C64S,H65L,R134K" "0,0,0,0" 348801 13403 dbsnp21358 NP_078800.3 "D409G,G1024S,N104D,P810Q,S1041L,T1046A,V55G" "0,0,0,0,0,0,0" 79572 1343 dbsnp21359 NP_057413.2 "E481D,K101R,N866S,R314L,R454C,R45C,Y25D" "0,0,0,0,0,0,0" 51460 2642 dbsnp21361 NP_000830.2 "A248T,A248V,A363T,A842V,G138S,I315V,L12P,R358Q,R417H,R636H" "0,0,0,0,0,0,0,0,0,0" 2912 2717 dbsnp21363;dbsnp21364 NP_005823.1;NP_852006.1 I21V 0 10242 12246 dbsnp21366 NP_060776.2 "A169S,D108E,G96R,R209C,R86Q,R87W,S58F,S58Y,V125I" "0,0,0,0,0,0,0,0,0" 55287 12282 dbsnp21367;dbsnp21368 NP_001171652.1;NP_620141.1 "G7E,G7R,L67I,N73S,P16T,R122H" "0,0,0,0,0,0" 116441 12951 dbsnp21369 NP_001231739.1 "A566T,H520R,L517V" "0,0,0" 27086 3702 dbsnp21370 NP_001004736.2 "A235D,E22G,F62L,L45S,M81I,R54W,V198I,V198L,V282A" "0,0,0,0,0,0,0,0,0" 26339 10364 dbsnp21371 NP_079317.2 "P146A,P48S,R147S,T101M,T52R" "0,0,0,0,0" 80111 13634 dbsnp21372 NP_849199.2 "A123V,G113S,M94V,S26R" "0,0,0,0" 152189 13500 dbsnp21373 NP_982248.1 "F157S,R111C,R4Q,T80M" "0,0,0,0" 389123 13652 dbsnp21374 NP_835231.1 "A149V,D261N,D75H,M119T,M212I,R191S,V180A" "0,0,0,0,0,0,0" 347736 11638 dbsnp21375 NP_859078.1 "H187R,P127S" "0,0" 353324 13178 dbsnp21376 NP_055747.1 "D721E,P813S,S150N,S402N,T90I,V305I" "0,0,0,0,0,0" 22871 2909 dbsnp21377 NP_653235.1 "D33N,P59S" "0,0" 131375 14003 dbsnp21378 NP_001240313.1 "L92I,R136W,R144Q" "0,0,0" 6138 12892 dbsnp21379;dbsnp21380 NP_001092253.1;NP_008973.1 "A57V,K69R,Q106E,R103Q" "0,0,0,0" 11102 13576 dbsnp2138 NP_001007278.1 "H249R,S251F" "0,0" 9538 9897 dbsnp21384 NP_940906.1 "D36N,I161T,I316V,K366R,N28D" "0,0,0,0,0" 344838 9058 dbsnp21385 NP_003247.1 "P59L,R209W" "0,0" 7079 12463 dbsnp21386;dbsnp21387 NP_001019815.1;NP_005274.1 "F277V,I255S,S173L" "0,0,0" 2829 10079 dbsnp21390 NP_057386.2 "A10V,E30K,N127S,Q7R,R111Q" "0,0,0,0,0" 51185 7733 dbsnp21393 NP_001230217.1 "D474N,L425I,N273H,N432S,P30R,P443L,Q458L,R464W,Y453C" "0,0,0,0,0,0,0,0,0" 25945 5858 dbsnp21398 NP_037418.3 "E700D,H665R,Q500H,V351M" "0,0,0,0" 29890 2664 dbsnp21401 NP_057290.2 "H193L,M227L,V308M" "0,0,0" 389136 10256 dbsnp21404 NP_001008487.1 "A236V,C297S,F258S,H29Y,I395V,L361Q,P81L,V253M,V44M" "0,0,0,0,0,0,0,0,0" 54946 6528 dbsnp21405 NP_060474.1 "E216A,R36Q,V166I" "0,0,0" 55076 11385 dbsnp21406 NP_004608.1 "I94V,L142F" "0,0" 7104 12926 dbsnp21407 NP_001192201.1 "R119C,S65A" "0,0" 100506243 14287 dbsnp21415 NP_001036066.1 P433R 0 151613 3448 dbsnp21416 NP_009206.1 "F103L,P104A,P104S" "0,0,0" 11334 14542 dbsnp21417 NP_000977.1 "Q68E,Q68K,T134I" "0,0,0" 6152 13788 dbsnp21418 NP_008953.1 Y193N 0 11068 12503 dbsnp21419 NP_079286.2 "D212N,R213Q,R233Q,R365G,T407M,T407R" "0,0,0,0,0,0" 23276 5510 dbsnp21420 NP_071915.1 "N115S,S272N" "0,0" 64393 11131 dbsnp21424 NP_003491.1 "A149T,A316T,G284S,H58N,I238T,P61L,Q528E,R215W,R35Q,R35W,S211L,T465A,T551I,V281I,V33M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8309 4264 dbsnp21426 NP_060048.2 "C62W,R46H,R55Q,V144A" "0,0,0,0" 54763 12702 dbsnp21427 NP_002061.1 A101V 0 2771 9547 dbsnp2143 NP_036326.2 "A693T,D913Y,H56R,M823R,N932D,P652S,P919L,R1622Q,S1345F,S929F,T1708M,T320M,T471S,T507R,V1254M,V1642L,V1694M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25758 527 dbsnp21431 NP_009016.1 "E120G,I30M,N189K" "0,0,0" 11167 10703 dbsnp21438 NP_001128131.1 "G129R,T85A" "0,0" 729627 11574 dbsnp21442 NP_689744.3 "A313V,E283K,P391L" "0,0,0" 152002 8738 dbsnp21443 NP_001034859.2 "I364V,N206S,R311Q,S69N,T220A,T241M" "0,0,0,0,0,0" 643853 7539 dbsnp21445 NP_653236.3 "A101V,D116E,G297C,R63S,T336M" "0,0,0,0,0" 131408 9286 dbsnp21449 NP_001138531.1 "E117K,H33R,R102C,R109C" "0,0,0,0" 389124 12854 dbsnp21450 NP_004835.2 "A20T,C307Y,N392D,R149W,S414R,V321M" "0,0,0,0,0,0" 9467 7492 dbsnp21451 NP_114436.1 "I295V,P297L,R2K,R72H,T274A" "0,0,0,0,0" 84002 9028 dbsnp21452 NP_000956.2 "D219E,N307T" "0,0" 5915 7357 dbsnp21454 NP_653237.1 G21W 0 131474 13821 dbsnp21455 NP_001026873.2 "F256I,M74V" "0,0" 54859 11575 dbsnp21456 NP_113628.1 "C215S,R121Q" "0,0" 83597 12299 dbsnp21457 NP_065792.1 "A142S,T297M" "0,0" 57501 8414 dbsnp21459 NP_001139025.1 "H47Y,P52L" "0,0" - 14722 dbsnp21460 NP_001238806.1 "F235L,R299W,S284F" "0,0,0" 7375 2262 dbsnp21462 NP_443201.1 "G50D,R11L" "0,0" 116832 14933 dbsnp21463 NP_653318.2 "A298T,H151Q,I103V,P60H" "0,0,0,0" 53833 10643 dbsnp21464 NP_065090.1 "D60N,K13R" "0,0" 57092 13404 dbsnp21466 NP_060114.2 "D197A,P447S,V424I" "0,0,0" 54800 5141 dbsnp21467;dbsnp21468 NP_001091884.1;NP_940886.1 "A389V,G215S,I99V,L402P,R168W,R245H,V350I,W330R" "0,0,0,0,0,0,0,0" 285268 7792 dbsnp21469 NP_001116.1 "D273N,R134W,R295Q,T167A,Y80C" "0,0,0,0,0" 141 9508 dbsnp21470 NP_653239.1 "L128S,M96V" "0,0" 131616 13752 dbsnp21472 NP_003403.2 "A110P,T414A" "0,0" 7545 6096 dbsnp21473;dbsnp21474 NP_848540.1;NP_057641.1 "F47L,I247T,I265T,R190H,R263Q,V150E,V53I,V78L" "0,0,0,0,0,0,0,0" 51554 9673 dbsnp21475 NP_001171183.1 "I78N,P384L" "0,0" 27303 7832 dbsnp21480 NP_004757.1 "N285S,P568S,T848I" "0,0,0" 9276 2582 dbsnp21481 NP_001182208.1 "C16R,Q34R,T186I,V163I,V206D" "0,0,0,0,0" 100129480 12485 dbsnp21482 NP_001007226.1 "H369Y,I339T,P374L,Y154C" "0,0,0,0" 10644 5153 dbsnp21485 NP_031380.1 "G64E,R11H,R80T,T19M" "0,0,0,0" 23434 13942 dbsnp21486 NP_940887.1 "A12P,I74T,K65N,R64Q,S141I" "0,0,0,0,0" 285386 11386 dbsnp21487 NP_001035290.1 "A85G,E22D,G33R,I100T,R156H" "0,0,0,0,0" 56650 11357 dbsnp21493 NP_004155.2 V69I 0 5948 13043 dbsnp21495 NP_886552.2 "E36V,F288I,G248D,I111V,I431T,I431V" "0,0,0,0,0,0" 51095 7881 dbsnp21496;dbsnp21497 NP_003023.1;NP_775323.1 "E164A,G79S,R141C,S58Y,T397I" "0,0,0,0,0" 6480 6152 dbsnp21498 NP_065727.4 "D322N,M8L,R51H,T15K,T15M,T180A" "0,0,0,0,0,0" 57406 9978 dbsnp21500;hgmd0613_1588 NP_009214.1 "A138T,A307T,S15N,S16F" "0,0,0,1" 11343 10595 dbsnp21505 NP_001157814.1 "A417G,A693V,D388E,E20K,E440K,G63E" "0,0,0,0,0,0" 26137 3692 dbsnp21511 NP_036562.2 "A83T,L258F,Q299R" "0,0,0" 26984 10726 dbsnp21516 XP_003403558.1 "G118A,R46C,R5G,S243T" "0,0,0,0" 100652807 11446 dbsnp21517 NP_060917.1 "G250A,V54L" "0,0" 55831 11690 dbsnp21518 NP_116228.1 "D226Y,G132C,I228V,R281Q" "0,0,0,0" 84925 7051 dbsnp21519 NP_001128129.1 "A172V,A201V,D117N,E74D,N203K,P202L" "0,0,0,0,0,0" 389152 11574 dbsnp2152 NP_065697.1 "A114S,A138V,P77L,R22H,R55L,Y49C" "0,0,0,0,0,0" 56676 13345 dbsnp21521 NP_060926.2 "D181G,D236E,I156T,Q26R,S256N" "0,0,0,0,0" 55840 11530 dbsnp21522 NP_001161803.1 "F3L,N24S,S26F,Y6C" "0,0,0,0" 4710 14269 dbsnp21524 NP_002329.2 "A246T,L23I" "0,0" 4045 9569 dbsnp21527 NP_000857.1 "A46T,E87Q,F187C,R86K,S31C" "0,0,0,0,0" 3355 9287 dbsnp21528 NP_001034200.1 "G728R,V447M" "0,0" 131405 2783 dbsnp21529 NP_005870.2 "E179K,G335D,G335V,I356T,Q428H" "0,0,0,0,0" 10293 7232 dbsnp21531 NP_071906.1 "I28V,N322S" "0,0" 64343 8763 dbsnp21534 NP_065890.1 "K561R,S94A,V647F" "0,0,0" 57599 4304 dbsnp21535 NP_079422.1 K155R 0 80218 13568 dbsnp21536 NP_054798.1 "A112V,A199V,G197A,R135L" "0,0,0,0" 28999 8266 dbsnp21537 NP_001013672.1 "G173D,I148M,P224H,P244L,V131L" "0,0,0,0,0" 389151 11574 dbsnp21542 NP_004104.3 T30N 0 2257 11812 dbsnp21544 NP_003409.1 T21A 0 7555 13386 dbsnp2155 NP_001171675.1 "I177L,K144R,P166R,S157L,V151M" "0,0,0,0,0" 5049 12302 dbsnp21560 NP_002259.1 G503S 0 3840 6146 dbsnp21561 NP_079351.2 "D158H,E192A" "0,0" 80145 12891 dbsnp21562 NP_057709.2 "E148G,E216Q,E308K,R21H,R95G" "0,0,0,0,0" 51319 10059 dbsnp21565 NP_660304.1 R61W 0 131118 13922 dbsnp21569 NP_775823.1 "K127N,K391E,P323R" "0,0,0" 205428 7956 dbsnp21570 NP_068799.2 "G40A,N624S" "0,0" 7707 3262 dbsnp21571 NP_000983.1 D131A 0 6159 13753 dbsnp21572 NP_849193.1 "F384V,I299V,R768W" "0,0,0" 201595 3054 dbsnp21574;dbsnp21575 NP_001139786.1;NP_116139.1 "A18V,L172P,R179W,R32C,R8C" "0,0,0,0,0" 84836 12758 dbsnp21576 NP_689746.1 "K25R,P28L,T53M" "0,0,0" 152065 14074 dbsnp21578 NP_005515.1 G227S 0 3280 11286 dbsnp21579 NP_001670.1 R270Q 0 483 11303 dbsnp2158 NP_998786.2 "A236G,A39T,A452V,F261L,G54V,K201N,L127F,L218M,L77F,N50S,P171L,P222S,R225W,R382C,R382H,S259N,V377M,V483M,W103C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3359 6381 dbsnp21582 NP_001034636.1 "L53I,W199C,W199L" "0,0,0" 256356 6161 dbsnp21586 NP_001681.2 P137L 0 523 4952 dbsnp21588 NP_008955.1 "A190E,A223G,M171V,P328L" "0,0,0,0" 11070 9640 dbsnp21591 NP_056211.2 "E282Q,R387Q,R504Q,T63A" "0,0,0,0" 25852 4497 dbsnp21596 NP_001035189.1 I67V 0 165679 14849 dbsnp21598 NP_060018.1 "G226D,L236R,S42G" "0,0,0" 55573 11756 dbsnp216 NP_001030014.2 "A224T,A235V,A700V,C407R,D336N,D635E,E55K,I531V,I584M,I614T,L306S,L359W,L60P,P102S,P160R,P21R,P286L,Q186K,Q513P,R240H,R478W,R630Q,R748Q,S281N,S53P,V209I,V364G,W132G,W697L,Y391H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374308 3459 dbsnp21603 NP_064703.1 A348T 0 57018 6198 dbsnp21604 NP_006832.1 "T458M,V256M" "0,0" 10991 6548 dbsnp21606 NP_937827.1 R127Q 0 344901 14206 dbsnp21607 NP_078941.2 N407D 0 79718 5465 dbsnp21609 NP_872329.1 "R11T,S45P" "0,0" 152100 14580 dbsnp21612;dbsnp21614 NP_001188501.1;NP_004197.1 "E182K,H172Y,K121R,R43Q" "0,0,0,0" 9117 10808 dbsnp21622 NP_694947.1 "A113T,V78I" "0,0" 132228 13653 dbsnp21623 NP_001165376.1 "A121V,L23V,R122W" "0,0,0" 131870 12400 dbsnp21625 NP_009038.1 R102Q 0 6747 13270 dbsnp21628 NP_002554.1 "S151C,T339A" "0,0" 5028 9150 dbsnp21635 NP_006017.1 G184V 0 8971 12686 dbsnp21636 NP_057661.3 S207F 0 51560 11823 dbsnp21639 NP_001171897.1 M89V 0 4286 6190 dbsnp21640 NP_001165377.1 F155L 0 131870 12400 dbsnp21641 NP_001098117.1 R165H 0 55186 10373 dbsnp21643 NP_001116512.1 "A153G,V109A" "0,0" 646450 11108 dbsnp21649;dbsnp21650 NP_001193952.1;NP_001078948.1 "R110G,V87I" "0,0" 401067 13849 dbsnp21652 NP_001073997.2 "A94T,F146I,S26N" "0,0,0" 646498 12893 dbsnp21654 NP_001073884.1 "R44Q,S13N,S979R" "0,0,0" 23350 1988 dbsnp21655 NP_036366.3 P121S 0 23429 12380 dbsnp21656 NP_660149.2 G514S 0 92999 3645 dbsnp21659 NP_037468.1 V354M 0 29927 7094 dbsnp21661 NP_001033794.1 Y592C 0 344758 3777 dbsnp21662 NP_001123475.1 F22V 0 132204 10576 dbsnp21664 NP_001073862.1 "L328F,N119S" "0,0" 727936 7717 dbsnp21665 NP_705899.2 "T182M,V39L" "0,0" 151835 5229 dbsnp21666 NP_001185709.1 R8P 0 10093 13237 dbsnp21667 NP_006001.3 K45E 0 7873 13232 dbsnp21669 NP_004938.1 D234N 0 1795 411 dbsnp21672 NP_775933.1 "A157V,A66V,T247I,V53L" "0,0,0,0" 285533 10195 dbsnp21678 NP_001191236.1 "H464R,H464Y,K412R,K84N,M179T,M1I,N307D,R40Q,S370G,T154I" "0,0,0,0,0,0,0,0,0,0" 2638 6798 dbsnp21680 NP_000573.1 S49P 0 6696 10229 dbsnp21684 NP_001238759.1 A24V 0 6696 10229 dbsnp21705 NP_001240841.1 "A220E,A384P,E270D,E413K,G296D,G389S,L740I,P658L,P664S,Q652P,R1127Q,R1147Q,R125W,R327K,R695C,R695H,R699W,S14P,S558R,S585L,T55I,V228G,V348D,V617I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23216 1507 dbsnp21706 NP_115595.2 "A546T,F552S,G428S,L129F,L340V,P405L,P545S,R113H,R307Q,S434R,S553P" "0,0,0,0,0,0,0,0,0,0,0" 84179 5682 dbsnp21707 NP_001803.2 "D672N,E94K,G389D,I136L,L341F,R499L,R64C,R688S,V604I" "0,0,0,0,0,0,0,0,0" 1060 2374 dbsnp2171 NP_001158886.1 F18L 0 3939 8956 dbsnp21716 NP_689896.1 "D510E,H175R,H98Y,L145F,P261S,Q11H,R291Q,R398Q,T285A,T82A,V102A,Y542C" "0,0,0,0,0,0,0,0,0,0,0,0" 201973 5685 dbsnp21717 NP_112179.2 R562K 0 81608 5218 dbsnp21722 NP_001120965.1 R954H 0 287 79 dbsnp21742;hgmd0613_2098 NP_079350.5 "A1042T,A1387S,A1387V,A1403T,A1463V,A1626V,A218G,A3210T,A817V,C396R,C510R,D1172N,D1258N,D1682E,D2545N,D32G,D54H,D687G,E103V,E1136K,E1436Q,E2195G,E3561D,F1917Y,G1023E,G1343A,G2745R,G3907V,H1141N,H3285Y,H536R,I243V,I3906T,I710L,K2378E,L1550F,L259R,L3153R,L466I,M590T,N1350S,N2805S,P1053T,P127R,P1579L,P1653L,P2042S,P209S,P378H,Q312H,Q3319E,R173Q,R2096C,R260S,R2741C,R2781C,R292Q,R3242Q,R3269Q,R327W,R3412C,R3704Q,S1449I,S1677P,S286T,S3256N,S429Y,T1145A,T1577S,T2806M,T2873S,T3618A,T887S,T954M,V1809I,V3438M,V3566I,V3626A,V3773L,V3952A,Y228H,Y2481N,Y287C,Y3385D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80144 77 dbsnp21743 NP_872412.3 "I334T,I335V,K48R,M1I,Q293R,R256I,R292H,R328Q,R78Q,T110I" "0,0,0,0,0,0,0,0,0,0" 339967 8131 dbsnp21745 NP_001146956.1 "F22L,P57R,V42L" "0,0,0" 60592 13754 dbsnp21748 NP_002102.4 "A1169E,A233V,C1710R,D1084H,D1084N,G415V,G553E,G698E,G895R,I1093M,I258T,L1239I,N1387H,Q627R,T1175A,T1262M,T1557I,T1722N,T996R,V1066I,V2619G,V2788I,Y2311H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3064 130 dbsnp2175 NP_766632.2 A150S 0 10068 12983 dbsnp21751 NP_001180247.1 "A219D,C227S,D59N,I165T,I179V,I262V,L43F,N3S,Q144H,Q173R,S18W,S241W,S246G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 285498 10930 dbsnp21763 NP_940908.3 "A486T,D127Y,I195V,I541V,M336L,P169T,R111C,R111G,R237H,S175N,S409F,T177A,T425P,T481M,T503M,V299I,V299L,V369A,V559A,V81A,W387G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 345193 4283 dbsnp21768;dbsnp21769;dbsnp21770 NP_116106.2;NP_001243350.1;NP_001243351.1 "A392P,G174R,G304R,K187E,K332R,N125K,R386K,S389F" "0,0,0,0,0,0,0,0" 84803 7479 dbsnp21784 NP_001130042.1 "E273K,K263Q,L34M,N291S,P187L,R217C,R381C,S226L,T366M,V100M" "0,0,0,0,0,0,0,0,0,0" 100129583 8739 dbsnp21797;dbsnp21798 NP_001035190.1;NP_055207.1 "A133V,P26S,Q65K" "0,0,0" 27065 13271 dbsnp218 NP_647473.1 "A273V,E262K,H669Y,I203T,N67S,S418T,V47I,V529I" "0,0,0,0,0,0,0,0" 10730 3424 dbsnp21805 NP_001193926.1 "I122T,R43C,S111N,T155M,T84S,T96M,V237I" "0,0,0,0,0,0,0" 255119 11924 dbsnp21814 NP_001128214.1 I1074L 0 8671 1737 dbsnp21820;dbsnp21821 NP_000986.2;NP_296374.1 Q114H 0 6164 14446 dbsnp21834 NP_002660.1 "A452T,H324Y,H437Q,L130I,M117L,P183A,T74S,V252M" "0,0,0,0,0,0,0,0" 5356 6418 dbsnp21839 NP_061859.3 "A1150V,A1200T,A248V,A508T,A608T,A643V,A774S,D520N,E203K,F598L,G1271D,G161S,G803S,G820R,H799R,K1068E,L1016V,L1088M,L399F,L562F,M1000V,P778L,R107Q,R111C,R1137W,R1148C,R1153Q,R1294C,R1294H,R140W,R354L,R359W,R573S,R617W,R736Q,R738P,R770K,R878W,R888H,S241L,S262F,S352L,T1164M,T634M,T810M,V930L,V999F,Y1080F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54436 1093 dbsnp21841 NP_006789.2 G308R 0 10941 4139 dbsnp21842 NP_001239204.1 R269C 0 10941 4139 dbsnp21843 NP_001239203.1 "A267V,A55V,E224K,E546K,F90I,H538R,K506N,L197S,L640P,M1T,M559I,P508R,P508T,P67Q,R476C,R633H,R75K,S654Y,T423A,V129F,V129I,V369F,V485F,V557I,V642I,Y188H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10941 4139 dbsnp21854 XP_373030.3 "A112V,A1435D,A1533G,A1704T,A1733T,A1810T,C19R,E908Q,G23R,G362R,G906S,K1447E,M1742L,M868T,N1394T,P1221Q,P1481A,P1579L,Q1262R,Q1635R,R1038K,R1375Q,R1478Q,R1643H,R1732C,R287I,R64Q,R65Q,S1051A,S1329R,S1584R,S301T,T141N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285556 543 dbsnp21855 NP_598375.2 "A144T,D247N,D70H,G924R,I162L,I705M,I923V,K16R,K611R,K819R,M46V,N18S,N552H,P36S,R381Q,R549H,R634H,S1096F,S217F,S256G,V195A,V306I,Y876F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 113510 1708 dbsnp21860 NP_000125.2 L31I 0 2169 14214 dbsnp21871 NP_001177978.1 R17G 0 22872 1357 dbsnp21876 NP_001191297.1 I69T 0 4258 13967 dbsnp21877 NP_001014447.1 "A559P,A559T,C433Y,D218E,D391H,D602N,D602Y,F514L,G557D,I225M,I580V,K400E,K400M,K409E,K412N,K507R,P179L,P480A,P6L,P95L,Q130L,Q263R,R126Q,R184C,R195H,R199W,R215C,R278C,R284C,R342H,R504Q,R570Q,R576H,R596Q,R647C,S212N,S387C,S387F,T501M,V499L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8532 4567 dbsnp21917 NP_005654.3 "A232P,A379V,I349V,S346A" "0,0,0,0" 7469 6004 dbsnp21930;dbsnp21931 NP_001139197.1;NP_060286.1 "D151N,E237G,E99D,F137V,G243D,G60V,H125Y,I362L,K203N,R153W,R265C,S276L,T367I,V178M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55646 9003 dbsnp21935;dbsnp21936 NP_056213.1;NP_001006656.1 "A98S,E341K,F273L,F478L,G405S,G453V,H214R,H216Y,I337V,K146E,K201E,K41E,L370I,L457V,M174T,N336S,P241L,P382S,R145C,R145H,R155H,R302Q,R366S,R385C,R385H,R397H,R410H,R431W,S13R,S329P,S75F,T429S,V202A,W144R,Y252D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25854 3419 dbsnp21940 NP_001229658.1 "D112G,D270H,E613V,F21L,G234V,H191R,I329M,I419V,M374I,M395T,M88V,P82T,R243H,R440H,R591C,S148L,T455A,V713L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54848 3394 dbsnp21945;dbsnp21946;dbsnp21947 NP_001185950.1;NP_001121797.1;NP_036577.1 "A122E,A122T,L18F,P228L,Y187H" "0,0,0,0,0" 10417 10114 dbsnp21949 NP_001001290.1 A17T 0 56606 5980 dbsnp2195 XP_294675.7 "A276V,A404V,A866D,D671H,E450K,E623D,E755K,G621R,G643R,P449S,P804R,P907H,R177C,R241C,R388C,R388H,R417H,R782C,S874L,V571I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 2417 dbsnp21957 NP_001138663.1 "A208G,D2H,F583I,H545N,M635L,Q620H,R180C,R459H,S21A,S443N,S657L,V353L" "0,0,0,0,0,0,0,0,0,0,0,0" 285550 4517 dbsnp21966 NP_001193910.1 "D135E,L45F,L65P,S106P,V113A,V124I" "0,0,0,0,0,0" 152816 14237 dbsnp21973 NP_078953.3 "A453T,D334E,E9V,F339S,H392R,I151T,I649V,N159K,N518Y,P702L,Q631K,R142H,R375H,S111C,S319A,T5M,V686G,Y227H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79730 3893 dbsnp21974 NP_006448.4 "S119C,S136F" "0,0" 10611 4852 dbsnp21977 NP_001025126.2 "A196T,A19T,E11G,R256K" "0,0,0,0" 285429 6746 dbsnp21994 NP_777612.1 "A73V,D164V,K227E,K445R,P214L,R292Q,R375H,R425C,R7C,Y186C,Y68C" "0,0,0,0,0,0,0,0,0,0,0" 285555 7416 dbsnp22000 NP_001180211.1 "A255T,A307T,C253R,D72G,G490S,H527R,L349V,R399W,R448C,R501Q,R512W,R513H,R544H,T475M,V70M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 402160 4631 dbsnp22001 NP_982287.1 "D23N,D90A,H84N,N33H" "0,0,0,0" 114932 14306 dbsnp2201 XP_003118676.1 "A53S,C12W,D222H,G109A,L198F,L204P,R159H,S205T,V81A,Y230C" "0,0,0,0,0,0,0,0,0,0" - 12185 dbsnp22012 NP_079182.2 "E197Q,F151C,G29D,K241N,L246M,P33L,T191I" "0,0,0,0,0,0,0" 79966 11795 dbsnp22013 NP_001229868.1 "E273K,K263Q,L34M,N291S,P187L,R217C,S226L,V100M" "0,0,0,0,0,0,0,0" 100631383 8739 dbsnp22017;dbsnp22018 NP_001229619.1;NP_078810.1 "A199V,A527S,C249S,H350P,L58P,P349L,P429L,Q74K,R245C,R261K,R316P,R513C,S133T,S3P,T435M,W490R,Y7C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100288413 5646 dbsnp22031 NP_060862.3 "A1532V,A1538G,E1363K,E2057D,E262K,E349G,E843K,F2016V,F603L,G1263S,H1749R,H241Q,H781D,I1410T,I1571V,I433F,I81T,K144E,K14N,L259P,L48M,M502V,N221S,N323S,N410S,P1681S,P1804S,P901Q,Q2068H,R350G,S100P,S1568L,S1696C,S340C,S397C,T1939M,T342A,T978I,V1704I,V1978M,V595D,V868G,Y1210C,Y378S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55345 375 dbsnp22055;dbsnp22056 NP_001167541.1;NP_001013644.1 "C338Y,G37S,L305F,N45S,P25L,R257Q,R271G,R276H,R372C,T244M,T246M,V317L" "0,0,0,0,0,0,0,0,0,0,0,0" 152877 8634 dbsnp22059 NP_001066.1 "A2T,A324T,A382T,C126R,D67Y,H474Y,L139V,M213T,N481D,Q398H,R520G,V303A" "0,0,0,0,0,0,0,0,0,0,0,0" 7365 6125 dbsnp22065;dbsnp22066 NP_003351.2;NP_001121646.1 "D303V,G152R,K415E,L107V,N455S,S43L,V146M,V26M" "0,0,0,0,0,0,0,0" 7368 5972 dbsnp22067 NP_001099147.2 "A66V,E389K,G317R,H381R,K349N,L483P,M402I,P351R,P351T,R275C,R476H,S497Y,T222A,V168F,V284F,V2I,V400I,V485I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 574537 4139 dbsnp22068 NP_055280.2 "E204D,H109R,I105M,L145V,M20V,R258G,S26R,T261M" "0,0,0,0,0,0,0,0" 27284 10725 dbsnp22076 NP_001171619.1 "A191T,C214Y,D455G,G262A,G490S,G533S,I251V,I278T,I323V,L35V,M493T,P173L,P398L,Q176H,R167W,R326K,R582C,R68T,T336P,T507M,W53S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 255743 5200 dbsnp22078 NP_001138932.1 "E110K,P94L" "0,0" 84525 14520 dbsnp22082 NP_001096123.1 "A129G,A151T,G333V,G768D,I353M,I579M,K486N,L634F,M649V,N414S,P616Q,P754S,P848L,P933L,P933R,S328C,S966C,V252A,V502M,W1008C,W1008L,Y657H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54726 1683 dbsnp22093 NP_001122403.1 "D119E,E322D,I147V,I162V,I348V,L368V,P43S,S89L" "0,0,0,0,0,0,0,0" 92345 6762 dbsnp22101 NP_775098.2 "G416A,L550V,N714S,P255L,Q215H,R179Q,R657C,V662I,Y165H,Y165S" "0,0,0,0,0,0,0,0,0,0" 323 3531 dbsnp22104 XP_373042.2 "A34P,A46V,F228S,G6A,I367M,K167N,N130S,N132S,P352S,Q233L,R185H,R187H,R52H,R96H,S44A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391722 9059 dbsnp22105 NP_061187.2 "A215T,G1106R,G233R,G722D,M1025I,M538V,M735V,N294S,P1059H,P1059S,P1118S,P990L,R433Q,R991G,S354R,V809I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55534 1615 dbsnp22113 NP_006598.2 "F183L,R44P" "0,0" 10744 12918 dbsnp22126 NP_002080.1 "M100L,N56K,T39A" "0,0,0" 2920 14562 dbsnp22130 NP_001172078.1 "A192T,E59K,I131V,L18F,Q207H,V97I" "0,0,0,0,0,0" 100132463 12335 dbsnp22133 NP_060098.3 "T1143A,Y1149S" "0,0" 54790 424 dbsnp22140 NP_001136024.1 "A1322P,A217E,A353E,A511T,A614V,A978T,G123C,G705R,H768R,H940Q,L1298V,L742P,M1103I,M1132I,N1288S,N1365K,N328S,P1325L,P1342H,P209S,Q1147H,Q593E,R1002L,R15Q,R425L,S140G,S843L,T455P,T620A,T870A,V1072F,V1307G,V764M,V946A,V950L,V969G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54798 1034 dbsnp22141 NP_872291.2 "A371T,D120N,D192H,H585P,L696V,P221Q,P514L,P68S,T588S" "0,0,0,0,0,0,0,0,0" 132864 1968 dbsnp22150 NP_001065.2 "A71T,D146E,D345E,E225K,E440D,H489Y,I215N,L107F,L46P,L56V,M420V,S437L,T179I,T368S,V194I,V415E,V508I,Y268H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7364 6125 dbsnp22152 NP_001182067.1 "E159G,K171I,L105F,M203T,N10T,T172M,V182I,V70I,Y87N" "0,0,0,0,0,0,0,0,0" 100507096 12597 dbsnp22153 NP_057165.3 "A509S,A509T,G965R,H614Q,K161Q,L168V,L695R,M224I,M224T,M781T,P885S,Q244R,Q733E,R255H,R272Q,R303S,R341H,R430Q,R465H,R617C,R859H,R891H,S286G,T156M,T180I,T347M,T425N,T425S,V1036M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23022 1009 dbsnp22155 NP_001243404.1 "A228S,D437H,G315S,G355S,H236Y,H412P,H43Q,R306Q,R368H,R382Q,S453F,W457R,Y237C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 100506564 7310 dbsnp22159 NP_149991.2 "A33V,E214D,E346D,G458E,N431S,Q490R,R155H,R291H,R405Q,S203G,Y279C" "0,0,0,0,0,0,0,0,0,0,0" 2712 5696 dbsnp22165 NP_060785.2 "M1L,R59Q" "0,0" 55294 4011 dbsnp22169 NP_001064.1 "A346V,A411V,A428T,C156R,D233H,D458H,F295L,G364D,H481R,I196L,I42V,I442V,I494T,I62N,L164V,L415V,L476F,N342S,P155T,P358S,P400R,P456S,Q141R,R101Q,R259Q,R352Q,S227C,S227Y,S70F,S70P,T175I,V153L,W117C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10720 6125 dbsnp2217 NP_079047.2 "A163V,S56F,V70M" "0,0,0" 79829 12186 dbsnp22170 NP_060718.2 "A241S,C290Y,C480F,E376D,F460C,K466T,L199V,L581V,N418S,N448K,N588S,P366L,Q144P,R251H,R315Q,R315W,R506C,R559H,T406I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55247 5075 dbsnp22172 NP_001243355.1 "D254H,H621R,I566M,K201R,K22R,N474S,P213R,P417S,Q605R,R353Q,R353W,S521N,T249I,T327A,T410A,T62N,Y586C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10611 4852 dbsnp22177 NP_597734.2 "A1134T,A1189T,A179T,A327G,D983G,G111S,G154A,I808V,M1233T,N1228S,P619L,P628H,P849R,Q174H,R1009P,R1009W,R1165W,R207T,R37Q,S767F,T573A,T892M,V328I,V887M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 171024 1251 dbsnp2218 NP_001139505.1 "A148V,G235E,G43A,I271T,K178R,L259P,N184I,P273L,R125H,R168Q,V104L,V104M" "0,0,0,0,0,0,0,0,0,0,0,0" 390084 9304 dbsnp22184 NP_001243825.1 "G151D,G169S,P105S,P110A,P159H,P80S,R141W,R92W,S34N" "0,0,0,0,0,0,0,0,0" 285489 6573 dbsnp2219 NP_006647.3 "C222G,G355R,P393A,R320W,R48Q,T356P,T80M" "0,0,0,0,0,0,0" 10825 7395 dbsnp22192 NP_057329.2 "H248Y,I116V,Q283R,R276C" "0,0,0,0" 51170 10869 dbsnp22194 NP_001231693.1 "E285A,E301K,H63R,K176E,P52S,R203C,T165R,T56A,T95M" "0,0,0,0,0,0,0,0,0" 79931 9086 dbsnp22197 XP_003403546.1 "I132L,L169I,M188V,Q103P,R171W,R176K,R197T,R206H,R75H,R87W,T159N,V129I" "0,0,0,0,0,0,0,0,0,0,0,0" - 11147 dbsnp22198 NP_001074000.1 "D173N,S174A" "0,0" 646603 12927 dbsnp2220 NP_065952.2 "A114V,A1373V,A1480V,A1546V,A335S,A909S,E1230A,G741R,P1229L,P27S,Q1378E,R1045Q,V1448A,V257M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57661 687 dbsnp22200 NP_001108206.2 "A207V,H428P,I155L,K243E,N309Y,S38Y,V250I,V293L" "0,0,0,0,0,0,0,0" 132430 4486 dbsnp22210 NP_079481.2 "A154T,G7S" "0,0" 80306 13405 dbsnp22220;dbsnp22221;dbsnp22222 NP_002120.1;NP_001124160.1;NP_001124161.1 R48I 0 3148 12631 dbsnp22223 NP_001556.2 R29C 0 3627 14688 dbsnp22234 NP_002097.1 Q124R 0 3015 9171 dbsnp22236 NP_036240.1 "N127K,P174A" "0,0" 26228 10995 dbsnp22237 NP_001191284.1 L10P 0 50859 7793 dbsnp22247 NP_001131080.1 "A24D,C280F,C367R,E128K,E166Q,E337Q,G498R,G562A,I67V,R162S,R38K,S290A,T320S,W569R,Y334F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 654254 1203 dbsnp22254 NP_001243358.1 "A102T,P59L,R114C,R114P,R38H,R70C" "0,0,0,0,0,0" 10611 4852 dbsnp22258 NP_653246.1 "Q23R,V83L,Y81C" "0,0,0" 132989 14440 dbsnp22259 NP_001103447.1 "A350V,D778Y,F483L,H840Y,L397F,M124L,N415H,P177L,P532T,P848L,Q754K,S544N,S838C,T585A,T7I,V915M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 729830 1940 dbsnp22267 NP_056051.2 "F901C,I1152N,I287M,L928V,P1373S,P1404L,P292A,Q1429P,R1165C,R1173Q,R465Q,R77Q,T659A,V1427I,V355I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23284 864 dbsnp22268 NP_775734.2 "A15V,A57T,D386G,E207K,G521R,I130T,K103N,N196S,R503Q,R503W,S294C,V527M,V7I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 91050 6162 dbsnp22270 NP_001095137.1 "A326T,A402T,A512T,D497N,E160K,E34A,G438R,L489M,M150L,M262V,M44T,P104L,R149G,R171G,R171H,R308W,R398C,R480P,R622C,R622H,R63H,R84Q,T173A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8310 4072 dbsnp22271 NP_777560.2 "G251E,G30D,I160V,I188V,K198R,K6N,L237V,P214A,R246L,R8Q,S90L" "0,0,0,0,0,0,0,0,0,0,0" 132625 8288 dbsnp22275 NP_997289.2 "I231M,N390S,Q224H,S519C,V500G" "0,0,0,0,0" 389206 6083 dbsnp22278 NP_116586.1 "G215E,G220R,G509D,I2T,I45M,I804T,R490L,R964L,S428F,Y533C" "0,0,0,0,0,0,0,0,0,0" 57575 1941 dbsnp22283 NP_001128619.1 D429H 0 64116 7699 dbsnp22287;dbsnp22288 NP_001240842.1;NP_001240843.1 K97T 0 23216 1507 dbsnp22298 NP_079019.3 "A497T,D92G,E527G,F494V,H448P,H448R,I322V,K367R,K522R,N292T,P165S,R257Q,T141A,T417S,T482I,T507A,V174E,V294I,W260G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79799 6125 dbsnp22301 NP_116316.1 "F110V,H53R,L126S,M131T,N25T" "0,0,0,0,0" 85013 14075 dbsnp22302 NP_001136025.1 S687F 0 54798 1034 dbsnp22306 NP_001158145.1 "G186R,G248R,H195Q,Q189R,R193Q" "0,0,0,0,0" 285489 6573 dbsnp22327 NP_006865.1 P64L 0 1998 5401 dbsnp2233 NP_057404.2 "A1137S,D1156N,D1214N,E1159K,E1661K,H711R,I1280V,I1381V,I1498T,I1683T,K1732I,L1254V,L1632F,N1165S,N738S,P1088L,Q1142E,R1052L,R1103H,R1103L,R1291C,R1291G,R1355Q,R1571Q,R1635Q,R1681G,R1712Q,R1785H,R677C,R681Q,R995C,S1022L,S197G,S958F,T168N,T268A,T298A,T397S,T643S,T85A,T889S,T899M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4928 551 dbsnp22330 NP_001159611.1 "D329N,I187V,N199K,P376S,Q461E,R141Q,S474N,V422F,Y336H" "0,0,0,0,0,0,0,0,0" 254251 5117 dbsnp22331 NP_001243003.1 V183I 0 84570 4547 dbsnp22344 NP_001154993.1 "A80T,E92G,M69V,R346G,S72A,V106I,Y503C" "0,0,0,0,0,0,0" 11275 5177 dbsnp22348 NP_001128119.1 S577Y 0 60312 3122 dbsnp22349 NP_076429.1 "A193T,P14T,R144W" "0,0,0" 65997 11962 dbsnp2235 NP_001123992.1 "P290R,R111C" "0,0" 7748 4808 dbsnp22350 NP_059119.2 "C325S,G130E,H253Q,K320M,M41V,P35S,P529T,T119A" "0,0,0,0,0,0,0,0" 51809 4518 dbsnp22353 NP_001136036.1 "E2K,S16L,S5F" "0,0,0" 1259 3532 dbsnp22354 NP_001158192.1 G111R 0 57545 714 dbsnp22355 NP_036450.1 "D116N,E665D,H109R,I82V,K587R,K588N,K606R,K697R,N131K,P60H,Q101H,R106H,R112H,R115H,R156Q,R184H,R499H,S489L,V50I,V695A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3954 3715 dbsnp22357 NP_000663.1 "C102G,G193V,I114V,L172R,M258I,S104F,S299G,T151P,V360A" "0,0,0,0,0,0,0,0,0" 130 8715 dbsnp22371 NP_056508.2 "A452T,A804V,C692G,C711R,C838R,G203S,L749F,N370I,P445H,Q627R,R119T,R127H,R543H,R705H,S334F,S674L,V209M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27152 2381 dbsnp22374 NP_115493.1 "C147W,T117M,T121S" "0,0,0" 84057 12869 dbsnp22375 NP_689758.1 "C159R,E145K,I216T,N222D,Q22H,R162C,R249W,V397I,V418A,Y346C" "0,0,0,0,0,0,0,0,0,0" 153020 6992 dbsnp22378;dbsnp22380 NP_001156907.1;NP_001156908.1 "A422E,D145N,D377V,I112V,I151M,I312V,K285N,M471I,N314S,P51A,P716S,R503K,R692C,T425M,T823I,V325A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93627 2650 dbsnp22384;hgmd0613_1559 NP_008878.3 "A64V,G188D,G7A,G7V,H229R,K557N,L171F,R20G,R20W,R241Q,V136I" "0,0,0,0,0,0,0,0,0,0,0" 6731 4362 dbsnp22387 NP_115946.2 "I966V,L626S,M456V,N695D,R599C,S148R,S630P,S951N,V60G,Y686H" "0,0,0,0,0,0,0,0,0,0" 84640 1933 dbsnp22399 NP_055146.1 "D499E,I202V,I292T,I321V,I378T,K362E,P136S,R148C,V210I" "0,0,0,0,0,0,0,0,0" 23657 6651 dbsnp22408 NP_919258.2 "I152F,R401Q,T327S,T59M,V395A" "0,0,0,0,0" 132660 3621 dbsnp22409 NP_001228.1 "E180V,K112E,R45L" "0,0,0" 890 7908 dbsnp22410 NP_653322.1 "G160S,G51S,H140P,L183M,Q135H" "0,0,0,0,0" 152815 12504 dbsnp22415 NP_001034806.1 "A290V,G411E,N307S,P86A,S333R,V370F" "0,0,0,0,0,0" 80167 8310 dbsnp22416 NP_001035492.1 "G39V,Q11H,T191A" "0,0,0" 23142 11061 dbsnp22418;dbsnp22419 NP_001020095.1;NP_060731.2 "G670E,M175T,Q357P,R73Q,S337R,S534N,T150A" "0,0,0,0,0,0,0" 55763 2646 dbsnp22424 NP_000576.1 "G103R,L17M,M88I,S77N,T75M" "0,0,0,0,0" 3600 13688 dbsnp22437 NP_112595.2 "M1I,R5L" "0,0" 83478 3629 dbsnp2244 NP_077019.2 "A93V,D189H,E165G,G212E,I111T,I33T,I44T,I62T,I72M,I72V,I75T,I84T,K88Q,L126Q,L29I,L57F,N16S,Q23P,Q76R,R124M,R138Q,R15Q,R193W,R27M,R85Q,S194T,S49R,V24D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79097 7546 dbsnp22440 NP_001349.2 "A106S,G16S" "0,0" 1665 3253 dbsnp22450 NP_001012750.1 N69D 0 1635 13195 dbsnp22452 NP_112581.1 "C141R,H309Y,K9R,M1I,P221L,R259Q,S278R" "0,0,0,0,0,0,0" 83447 10542 dbsnp22453 NP_060102.1 "C178W,I196M,K386E,M256I,Q283H,R167S" "0,0,0,0,0,0" 55602 5416 dbsnp22456 NP_115832.1 "A44S,E194G,I522T,I897T,L425F,S514R,T325I,T743I,T832M,V818L" "0,0,0,0,0,0,0,0,0,0" 5099 1269 dbsnp22460 NP_001120859.2 R77Q 0 653543 6926 dbsnp22461 NP_036279.2 A8V 0 26583 6926 dbsnp22462 NP_059963.1 A129G 0 54726 1683 dbsnp22464 NP_110448.2 "A178T,C131R,D111N" "0,0,0" 81579 13196 dbsnp22467 NP_006311.2 "E130G,R6L" "0,0" 10424 11987 dbsnp22469 NP_001191196.1 W5R 0 2557 5782 dbsnp22473 NP_919420.1 "H230R,R196Q,T229A" "0,0,0" 285498 10930 dbsnp22474 NP_973728.1 "A564T,H104Y,I149V,K306E,L576I,N22H,Q399R,R326H,S3T,S464A,T138A" "0,0,0,0,0,0,0,0,0,0,0" 1998 5401 dbsnp22475 NP_001032519.1 "L600F,P593S,P7L,R505G,R602Q" "0,0,0,0,0" 22902 4001 dbsnp22478 NP_076952.1 "E344K,N315D,N315S,N37S,Q33K,V50L,Y140C" "0,0,0,0,0,0,0" 53343 9674 dbsnp22483 NP_064610.1 "A219T,A676T,S240N,V681I" "0,0,0,0" 56977 2461 dbsnp22485 NP_776297.2 G833S 0 1182 2796 dbsnp22486 NP_001230303.1 E22D 0 1182 2796 dbsnp22489 NP_000658.1 "A208V,F199S,R272Q,S266T,T123N,V293I" "0,0,0,0,0,0" 124 8715 dbsnp22490 NP_996802.1 "D74G,G7D,G7R,H71Y,I27M,P11H,S32P,T98S" "0,0,0,0,0,0,0,0" 132946 14372 dbsnp22492 NP_003594.3 "R5H,R5S" "0,0" 8470 1711 dbsnp22493 NP_001139143.1 "G82D,R22H,R22S,R350L" "0,0,0,0" 8470 1711 dbsnp22496 NP_001139145.1 "G123V,R99C" "0,0" 8470 1711 dbsnp22499 NP_004876.2 "A232T,A332P,A402V,A469V,D403G,L238S,M462V,N138K,N175D,R59C,S35R,S35T,S500R,S51N,T323I,V250A,V286G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10886 6268 dbsnp2250 NP_079368.3 "A236T,A29T,C214G,D199Y,D387G,E412A,E567K,G331R,G578R,H485Y,L250M,N63S,P712L,Q337E,R416G,R555W,R99Q,S530C,T731I,V622G,V643E,Y440H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80162 3730 dbsnp22502 NP_001104789.1 L177P 0 53842 12335 dbsnp22505 NP_061908.1 "C674Y,E145D,K1045R,L616F,M675I,N992K,P1072S,Q408H,S1078C,S134F,T1022A,T784I,V718A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54510 1602 dbsnp22514 NP_001026890.2 "C136S,D269N,L281F,V221G" "0,0,0,0" 79807 4767 dbsnp22515 NP_006574.1 "D234G,D326N,H211R,M248V,M275V,P274R,R302Q,S18L" "0,0,0,0,0,0,0,0" 10692 9979 dbsnp22516 NP_001171939.1 Q74R 0 6047 14509 dbsnp22518 NP_065070.1 "D570N,E993V,G1314R,I391V,Q1029H,R136C,T367M,Y261C" "0,0,0,0,0,0,0,0" 57182 940 dbsnp22519;hgmd0613_2449 NP_898898.1 "A388T,F284L,M210T,N331S,P103L,R384I,R466Q,V378I,V430L" "0,0,0,0,0,0,0,0,0" 113612 5935 dbsnp22520 NP_001026893.1 H141R 0 79982 8409 dbsnp22522 NP_065775.1 "M3R,N331S,P159S,R113H,V228I,V394I" "0,0,0,0,0,0" 57484 7808 dbsnp22523 NP_002150.1 "F43L,H37Q,L8F,S39P" "0,0,0,0" 3346 14922 dbsnp22524 NP_001010874.2 "C282G,N247D,P45S,R179H,T152A,V298A" "0,0,0,0,0,0" 253017 9349 dbsnp22525 NP_001138450.1 "G161E,T275M,V109I,V210G,Y347C" "0,0,0,0,0" 441024 9672 dbsnp22526 NP_061815.2 "A164V,G122S,R162Q,S41C" "0,0,0,0" 3166 9722 dbsnp22527 NP_001036155.1 "K66R,P148L,R221L,Y178H" "0,0,0,0" 345222 11315 dbsnp22528 NP_001073975.1 "S225F,V82I,V84A" "0,0,0" 441027 11939 dbsnp22530 NP_001092903.1 Q680K 0 152789 2933 dbsnp22532 NP_002407.1 "T125A,T40S" "0,0" 4283 14338 dbsnp22533 NP_059122.2 "L434M,N250S,N496T,R247H,R385K" "0,0,0,0,0" 53371 6538 dbsnp22534 NP_543150.1 "F325Y,K49Q,L164M,L266F,R329Q,R48H,R82H" "0,0,0,0,0,0,0" 140458 10181 dbsnp22535 NP_597731.2 "C14F,C59F,E560G,E645V,K116R,N179T,R142H,R730L,T654A,T894M,V58M" "0,0,0,0,0,0,0,0,0,0,0" 170960 1203 dbsnp22536;hgmd0613_727 NP_001180.1 "D165H,L307V" "0,0" 579 10080 dbsnp22537 NP_067679.6 "A350V,I404V,V41M,V42F" "0,0,0,0" 9848 8415 dbsnp22540 NP_001152757.1 "D407N,E94G,I560T,L69V,Q9R,R506W" "0,0,0,0,0,0" 132612 5475 dbsnp22542 NP_835236.2 "A279V,D134G,G175S,P260Q,P260S,S95G,S95R,T239I,T252N" "0,0,0,0,0,0,0,0,0" 345275 10869 dbsnp22546 NP_006676.1 "P47L,P47Q" "0,0" 10879 14183 dbsnp22547 NP_001159582.1 S136G 0 23022 1009 dbsnp22549 NP_001107579.1 E111D 0 27295 9318 dbsnp2255 NP_542392.2 "D255N,E112D,G312C,G312R,I37V,L120F,N274S,R287H,V126I" "0,0,0,0,0,0,0,0,0" 92292 10074 dbsnp22550 NP_068761.4 "A716D,A716G,A821T,E73D,F723L,K510N,L311V,N634S,N800S,Q933H,R568Q,R844S,T1104A,T812P,V1007M,V49L,V660L,V807M,V828A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60684 1616 dbsnp22552 NP_056991.2 "D163N,E217K,E231K,G23R,H233N,K476N,N271S,S227G,V96M" "0,0,0,0,0,0,0,0,0" 51056 6336 dbsnp22554 NP_001068.1 "A474D,A480T,D147V,D85Y,D95N,F89V,G242R,G380D,H450Y,I438V,K343N,L219F,L446S,M6K,N351S,S312L,T352I,V181I,W233S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7367 6125 dbsnp22564 NP_001122396.1 "H273L,I112M,L260V,L373P,M378L,M378T,P168L,P367S,R379C,R379H,T47A,V656M" "0,0,0,0,0,0,0,0,0,0,0,0" 152503 3292 dbsnp22568;dbsnp22569;dbsnp22570;dbsnp22571;dbsnp22572;dbsnp22573;dbsnp22574 NP_001171918.1;NP_001171919.1;NP_001171920.1;NP_001171916.1;NP_001171917.1;NP_001171915.1;NP_002485.1 E68Q 0 4717 14850 dbsnp22575 NP_659416.1 "A530S,E125A,I126M,L465F,N406K,R353H" "0,0,0,0,0,0" 166863 6092 dbsnp22576 NP_001191689.1 V387A 0 7092 2047 dbsnp22577;dbsnp22578 NP_055558.2;NP_001094060.1 "C647S,E228Q,K1231E,P1138S,P285L,R1359C,T545A" "0,0,0,0,0,0,0" 9778 987 dbsnp2258 NP_036441.2 "A1485T,A205T,C71Y,D1436G,D1444N,D209N,E198G,G1170R,G488V,I1664T,K535R,K780Q,M1717I,M812L,P1586L,P2L,R1672G,R1672W,R174C,R569H,R818H,S610C,T1445S,V129M,Y967C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22941 528 dbsnp22581 NP_001020766.1 "A85P,D167G,I337M,N174S" "0,0,0,0" 27236 9151 dbsnp22583 NP_001107829.1 "A260T,F32L,F66S,H198Y,K223R,R84W,V81M" "0,0,0,0,0,0,0" 441054 10680 dbsnp22584 NP_775824.1 "A231P,A277V,D204N,E235D,H178Y,I342L,K146T,K14R,L372V,M41L,N344S,P369S,Q49P,Q77L,R114H,R64W,S280G,T264A,T281M,T292M,V134I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 205860 8867 dbsnp22586;dbsnp22587 NP_001244954.1;NP_689833.1 "D225G,E209V,E222V,E422D,G276S,G384R,H350R,I363L,L202I,M255R,P69L,R349Q,R72H,S15R,S254R,S413I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 166655 7193 dbsnp22588 XP_001129558.1 "M74T,R144W,R164W,R20H,S191P,T56A" "0,0,0,0,0,0" - 11200 dbsnp2259 NP_944605.2 "A26T,G41R,L66H,N317H,R174W,R206W,R55Q" "0,0,0,0,0,0,0" 116512 10378 dbsnp22591 NP_006165.1 "E338D,N247S" "0,0" 4889 7682 dbsnp22595 NP_001119800.1 "A227V,D9N,E390K,E403G,G415S,P10A,P10S,P514S,R362C,R428C,R455C,S236R,T137S,Y439H,Y678S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84708 3807 dbsnp22596 NP_116011.2 F26L 0 84708 3807 dbsnp22600 NP_009031.1 "K50Q,L10F" "0,0" 521 14883 dbsnp22602 NP_001245274.1 "A220T,I160L,L197V,L200V,P107S" "0,0,0,0,0" 133015 11963 dbsnp22603 NP_001245275.1 "D171Y,S175L" "0,0" 133015 11963 dbsnp22604 NP_001025169.1 "A310T,I237M,R6S,V148I,V235F" "0,0,0,0,0" 84068 9917 dbsnp22605 NP_067048.4 "L63F,V82I" "0,0" 58503 11964 dbsnp22606 NP_001035538.2 "A46V,D52Y,S25P" "0,0,0" 644414 14877 dbsnp22607 NP_001170847.1 "A383V,A388D,W373C" "0,0,0" 441056 6926 dbsnp22611 NP_057326.2 "H253Y,I40V,L209V,S100F,T126N,V105I" "0,0,0,0,0,0" 51705 11691 dbsnp22615 NP_631912.2 "D374G,F302I,H2R,I292N,I490S,I73T,L294R,M234T,R305Q,R336H,V183I,V290I" "0,0,0,0,0,0,0,0,0,0,0,0" 150159 6030 dbsnp22623 NP_001123555.1 "Q493E,Q493K" "0,0" 84448 4639 dbsnp22632 NP_078850.3 "K341N,K414R,S140N,T201S,T375I,T80M" "0,0,0,0,0,0" 79625 5579 dbsnp22639 NP_002985.1 "A41T,G109C,G109R" "0,0,0" 6374 14495 dbsnp22641;dbsnp22642;dbsnp22643;dbsnp22644 NP_001035889.1;NP_579878.1;NP_579877.1;NP_579890.1 "A578G,A807T,G67S,H528N,P1343A,Q295L,R1320W,T1311A,T444A,T551M,Y1006H" "0,0,0,0,0,0,0,0,0,0,0" 7468 1041 dbsnp22647 NP_714913.1 "E239D,S221N,S221T,V112I,V39G" "0,0,0,0,0" 255520 11035 dbsnp22648 NP_001161726.1 "K243R,S218C,S218F" "0,0,0" 54940 11925 dbsnp22651 NP_001986.2 "A65V,D56N,D666N,I174S,I224K,I224T,L208P,Q97R,R237Q,V653G" "0,0,0,0,0,0,0,0,0,0" 2180 3713 dbsnp22654;dbsnp22655;dbsnp22656;dbsnp22657 NP_005832.1;NP_001244967.1;NP_955359.1;NP_001244968.1 "A37T,E55K,G137R,Q4L,Q4R,Y29C" "0,0,0,0,0,0" 10252 10424 dbsnp22659 NP_112738.1 "S83P,S83T" "0,0" 3184 8156 dbsnp22661 NP_001244935.1 "A4V,E322Q,G24V,R341H" "0,0,0,0" 51138 8480 dbsnp22662 NP_849157.2 "D631H,F768C,H271Q,L166V,P158S,P341Q,S618C,S771P,S837L,S963L,T608A,V883I,Y664F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 152485 1791 dbsnp22663 NP_005642.1 "D316A,G343D,K185R,L234R,M381L,N229H,R240S" "0,0,0,0,0,0,0" 6999 8479 dbsnp22664 NP_001997.5 "K194N,V210L" "0,0" 2247 11148 dbsnp22665 NP_060836.1 "G164A,R143S,S189L" "0,0,0" 55330 12598 dbsnp22666 NP_060393.1 H5Y 0 55016 11068 dbsnp22667 NP_001159845.1 "D27G,R48Q,R98H,S91N" "0,0,0,0" 55016 11068 dbsnp22668 NP_001166128.1 "G258R,G273S,L279F" "0,0,0" 57732 2678 dbsnp22669 NP_689506.2 "A95G,H380Y" "0,0" 93624 8162 dbsnp2267 NP_001193560.1 "A333V,C358S,D313E,D313G,F34V,H341R,I17V,I275L,M295V,Q334L,R136G,S350F" "0,0,0,0,0,0,0,0,0,0,0,0" 646754 7597 dbsnp22670 NP_056086.2 "Q535K,R41H,R612H,T365S,T421A,V330M" "0,0,0,0,0,0" 23321 3438 dbsnp22672;dbsnp22674 NP_114117.1;NP_001128643.1 "E26Q,I283V,L210M,P87T,R217Q,R57C,R57L" "0,0,0,0,0,0,0" 114905 10154 dbsnp22676 NP_001325.1 "A65T,G173V,M128I,R94S" "0,0,0,0" 1519 10383 dbsnp22677 NP_006410.1 "A81V,S30N" "0,0" 10563 14550 dbsnp22678 NP_003934.1 "A36V,A95T,C168Y,D41Y,G46E,L342P,R112K,R182K,R333H,S188R,V351F" "0,0,0,0,0,0,0,0,0,0,0" 8987 9483 dbsnp22679 NP_002083.3 T162S 0 2926 7003 dbsnp22680 NP_001171630.1 "E319D,P378S,R44C" "0,0,0" 7358 6773 dbsnp22681;hgmd0613_1056 NP_003350.1 R141C 1 7358 6773 dbsnp22682;dbsnp22683 NP_001078868.1;NP_001078869.1 "H38R,R267H" "0,0" 768211 11473 dbsnp22684 NP_004301.1 H88R 0 399 13159 dbsnp22685 NP_001882.1 "G112R,L196F,P167S,Q194L,T122M,V193I" "0,0,0,0,0,0" 1447 12426 dbsnp22686 NP_776188.1 "I270T,M263V,R251C,R261C,T273M" "0,0,0,0,0" 285521 10081 dbsnp22688 NP_001093869.1 "D692N,K898Q,V1301M" "0,0,0" 23244 902 dbsnp22690 NP_005891.1 N147H 0 4086 7251 dbsnp22692 NP_689505.1 "A222V,K50I,N228S,P319T,R58Q,R69H" "0,0,0,0,0,0" 93587 9926 dbsnp22695 NP_689892.1 "A433T,P95Q" "0,0" 201780 7833 dbsnp22696 NP_002695.1 L57S 0 5473 14288 dbsnp22697 NP_060879.2 "L68R,M216L,R224W,S266P,Y182C" "0,0,0,0,0" 55805 9747 dbsnp22701 NP_777581.1 H88Y 0 201895 14671 dbsnp22702 NP_001162589.1 "C661W,E437A,H455R,H545Y,I499V,R303W,R702C,S181Y,S607F,S688C,T665I" "0,0,0,0,0,0,0,0,0,0,0" 57620 3580 dbsnp22705 NP_001032671.2 R312Q 0 79966 11795 dbsnp22706 NP_001035160.1 "A43V,G39D,I164V,I178F,M1T,N104K,Q67H,S12G,S157F,S54W,S56N,T171P,V160F,V214I,V50M,V91I,Y202H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 650293 12620 dbsnp22713 NP_001153073.1 "R146W,T30M" "0,0" 9364 12520 dbsnp22719 NP_870991.1 "A19V,L142M,Q16P" "0,0,0" 5522 7525 dbsnp2272 NP_055633.1 "E494K,H324R,I1089V,L630V,M508I,N661H,Q258H,Q765K,R1037W,R145K,R196C,S705N,S874L,V1166E,V622M,Y1045C,Y280H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9866 1375 dbsnp22721;dbsnp22722 NP_001111.3;NP_001139541.1 "A74T,I218T,R300H,R341W,T321I" "0,0,0,0,0" 10227 7493 dbsnp22725 NP_001231696.1 "P20L,P48S" "0,0" 92597 12521 dbsnp22733 NP_001008394.1 "A27T,E90G,E90K,T89K" "0,0,0,0" 201725 14510 dbsnp22734 NP_689615.2 "P12H,P12R,S233A" "0,0,0" 133022 9126 dbsnp22735;hgmd0613_2137 NP_112586.1 "T177M,T226M" "0,0" 83452 12179 dbsnp22736 NP_001281.1 "A272T,Y111C" "0,0" 9079 8361 dbsnp22738 NP_000997.1 Q157P 0 6189 11616 dbsnp22740 NP_001077088.1 "I375V,R323Q,S268A" "0,0,0" 2891 2523 dbsnp22746 NP_001229256.1 "C254S,H412P,H412Y,L487Q,P310Q,Q430H,S357A,S364T,S492T" "0,0,0,0,0,0,0,0,0" 728369 5710 dbsnp22747 NP_001009181.1 "L4P,Q44H" "0,0" 6779 14909 dbsnp22753 NP_006520.2 "N404S,N64S,R368H,T430I,V449I" "0,0,0,0,0" 8001 7333 dbsnp22755 NP_002984.1 "L92V,S5C" "0,0" 6372 14495 dbsnp22765 NP_003296.1 "I313V,I365F,I394V,K839T,S823G,T332M,V356M" "0,0,0,0,0,0,0" 7222 2422 dbsnp22769 NP_068808.1 Q217P 0 9464 12599 dbsnp22770 NP_694542.1 "E84K,S75Y" "0,0" 260436 14799 dbsnp22773 NP_060596.2 R199Q 0 55161 11988 dbsnp22774 NP_066012.1 S432T 0 57721 7478 dbsnp22775 NP_001030017.2 "H132Y,K567Q,M570L" "0,0,0" 442117 5107 dbsnp22776 NP_001243823.1 "D292A,D292E,K304Q,L305P,S312T,T310P" "0,0,0,0,0,0" 100288520 5710 dbsnp22777 NP_150638.1 "K105E,P85L" "0,0" 93621 14306 dbsnp22778;dbsnp22779;dbsnp22780 NP_001124188.1;NP_057703.1;NP_001124187.1 M112V 0 51316 14480 dbsnp22785 NP_000901.1 "R345Q,T318S" "0,0" 4887 8963 dbsnp22786 NP_001243796.1 "H412Y,L487Q,P310Q,S492T" "0,0,0,0" 728419 5710 dbsnp22788 NP_004253.1 "F97L,M118T,P340S,R236H,R236P" "0,0,0,0,0" 9407 8222 dbsnp22789 NP_067027.1 "A67T,G165R,R126H" "0,0,0" 58478 11692 dbsnp2279 NP_001245323.1 "A67P,R36L" "0,0" 81570 4013 dbsnp22790 NP_002694.3 "D54G,G55A,H502N,S63L" "0,0,0,0" 5471 6376 dbsnp22791 NP_060711.2 P160L 0 55751 7809 dbsnp22792 NP_006159.2 G355C 0 4825 9265 dbsnp22793 NP_065836.2 H68N 0 57545 714 dbsnp22795 NP_001036081.1 "A24D,F42L,P6R" "0,0,0" 84992 14873 dbsnp22796 NP_848652.2 V238A 0 339983 10822 dbsnp22798 NP_001123379.1 "H102Q,S96P" "0,0" - 14591 dbsnp22799 NP_002611.1 "A4S,L87M" "0,0" 5197 14599 dbsnp22800 NP_079472.1 "G189D,R11C,V117I" "0,0,0" 80273 12600 dbsnp22801 NP_001012414.1 T5M 0 391712 7193 dbsnp22802 NP_001243638.1 G3V 0 10393 13068 dbsnp22803 NP_653247.1 "A108P,F14I" "0,0" 3512 13755 dbsnp22805 NP_573574.1 "I12V,N296K" "0,0" 170825 10780 dbsnp22806 NP_076924.1 "A197V,A262V,D206E" "0,0,0" 63973 11447 dbsnp22807 NP_057151.1 "G9S,L19F" "0,0" 51023 14064 dbsnp22808 XP_001717222.1 "G117E,G31R,R143W,T151A" "0,0,0,0" - 11590 dbsnp22809 NP_005971.1 "L33P,L33R,T27I,V54M" "0,0,0,0" 6286 14661 dbsnp22810 NP_001035292.1 I150T 0 152559 10644 dbsnp22811 NP_003706.1 "I920V,Q309H,Q700L,R670K,R734G" "0,0,0,0,0" 8615 2277 dbsnp22812 NP_000929.1 Y84C 0 5431 1494 dbsnp22813 NP_006445.1 G189A 0 10608 12729 dbsnp22814;dbsnp22815 NP_061856.1;NP_127460.1 "G202R,H28L,R46T,R8H,R8P" "0,0,0,0,0" 54433 12601 dbsnp22818;hgmd0613_1889 NP_060945.2 T218M 0 55858 10307 dbsnp22819 NP_001193935.1 A112V 0 59067 13689 dbsnp22821 NP_055062.1 "A497P,K828R,Q1199K,R530S,V416A" "0,0,0,0,0" 9693 724 dbsnp22823 NP_115884.4 R72H 0 84525 14520 dbsnp22827 NP_783318.1 "S419R,V118A" "0,0" 326340 8072 dbsnp22828;dbsnp22829 NP_076995.1;NP_001124193.1 I255V 0 79071 11591 dbsnp2283 NP_689529.1 "T176A,T229A,Y21F" "0,0,0" 120534 11703 dbsnp22830 NP_001243781.1 "F110S,G503D,I138N,K101T,P68L,R173K,R34L,R474G,S336F,T512A,V396A" "0,0,0,0,0,0,0,0,0,0,0" 100287144 5710 dbsnp22838 NP_079488.2 S324N 0 80319 9266 dbsnp22839 NP_000674.2 "A13G,P339S" "0,0" 152 7304 dbsnp2284 NP_976030.1 "D386N,E335D,E406A,P395S,S447L,V361G" "0,0,0,0,0,0" 5818 6358 dbsnp22840;dbsnp22841;hgmd0613_1930 NP_064611.3;NP_001092873.1 T4A 0 56978 4179 dbsnp22842 NP_001229259.1 "H412Y,P310Q,Q430H,S357A,S364T,S492T" "0,0,0,0,0,0" 728393 5710 dbsnp22843 NP_001229257.1 "H412P,H412Y,L487Q,P310Q,Q430H,S357A,S364T,S492T" "0,0,0,0,0,0,0,0" 728379 5710 dbsnp22844 NP_001229261.1 "H412Y,L487Q,P310Q,Q430H,S357A,S364T,S492T" "0,0,0,0,0,0,0" 728405 5710 dbsnp22846 NP_055958.2 S320T 0 23173 8882 dbsnp22847 NP_001229258.1 "H412Y,L487Q,P310Q,Q430H,S357A,S364T,S492T" "0,0,0,0,0,0,0" 728386 5710 dbsnp22848 NP_001229260.1 "C254S,H412P,H412Y,L487Q,P310Q,Q430H,S357A,S364T,S492T" "0,0,0,0,0,0,0,0,0" 728400 5710 dbsnp22851;dbsnp22852;dbsnp22853 NP_001020242.1;NP_005608.1;NP_001020241.1 K50N 0 6208 13913 dbsnp22856 NP_001035905.1 T87K 0 831 3613 dbsnp22857 NP_001177371.1 "A307P,A524V,C395S,D303G,D318E,D77V,E141D,E367K,E436Q,E485D,G55R,I107V,I213L,K516R,Q635H,R297H,R365L,R365Q,R454C,R454H,S282L,T332M,T4K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 831 3613 dbsnp22865 NP_001229390.1 "G80V,I171M,I272V,I28V,R179H,R229H,W4R" "0,0,0,0,0,0,0" - 4640 dbsnp22889 NP_001171346.1 I6V 0 5122 3582 dbsnp22894 NP_001182464.1 "G27S,R113Q,R17H,R28C,T71I" "0,0,0,0,0" 100505841 9320 dbsnp22905 NP_689763.3 "A253S,A253T,A382V,D199N,D204N,E17G,G663R,I585T,L6S,N433D,R155Q,R201Q,R263H,R310W,R513Q,R587S,R592G,V421I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 153769 3790 dbsnp22906 NP_001135947.1 "D15E,E87G,F60L,S22R,V36F" "0,0,0,0,0" 9315 14521 dbsnp2292 NP_001012680.1 I87T 0 6520 4790 dbsnp22924 NP_002179.2 "A79E,L72P,R119Q,V125M" "0,0,0,0" 3596 13996 dbsnp22930 NP_588613.2 "A971S,D904E,E700Q,F884L,G642E,I307V,I844V,N190S,P1100S,Q648R,R1024H,R1067Q,R518Q,R957G,S153F,S153Y,S354L,V199I,V738L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 96459 1510 dbsnp2294 NP_001129107.1 "E229V,M173I,Q196R,S148N" "0,0,0,0" 83638 11029 dbsnp22943 NP_001128323.2 "D134H,E148A,G256R,M88L,P19S,P19T,P38H,P38L,Q239E,T245I" "0,0,0,0,0,0,0,0,0,0" 6932 8881 dbsnp22944 NP_001092282.1 "D89E,N210K,R302H,S434A" "0,0,0,0" 23176 6955 dbsnp22960 NP_976316.1 V186F 0 23600 8716 dbsnp22974 NP_001157569.1 "A817T,A872E,D1055N,E1056K,E548G,G1025S,I996L,K529R,L1269P,L474M,Q1121E,R839H,T683A,T732S,Y703C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1462 109 dbsnp22987 NP_001124499.1 "A225V,C241R" "0,0" 8572 10142 dbsnp22993 NP_944493.2 "A227S,I215V" "0,0" 2566 6399 dbsnp230 NP_004995.1 "P123R,R116C,S125P,S125T,V11A,V8L" "0,0,0,0,0,0" 4714 13246 dbsnp23003 NP_001240693.1 "C77R,H95Y,N64K,S93L,T68M" "0,0,0,0,0" 10011 12200 dbsnp23008 NP_054724.1 "A823D,R818Q" "0,0" 9752 2345 dbsnp23010 NP_114065.1 "F808L,G784W,I789V" "0,0,0" 56139 2345 dbsnp23013 NP_006624.2 "D1056N,D994N,E1159K,E883Q,H848Q,I1062V,K1354R,L1299F,L1498F,M1530I,M442V,P479H,R1459L,R1459Q,R707Q,R714G,R930Q,T1092A,V1250M,V234I,V647L,V695F,V695I,V695L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10788 683 dbsnp23019 XP_003118926.1 "H76P,M1V,Q101K" "0,0,0" - 14373 dbsnp23021 NP_776190.1 "K121N,K77N" "0,0" 285672 13822 dbsnp23023 NP_001073948.2 "A1541G,D1494Y,E613V,G1356E,G38R,H1640Q,H780N,L1731F,M45I,P1548S,P1664L,P1695L,P284Q,P742L,R1453L,R1463Q,R1711K,R343H,R585K,R98M,S1137Y,S1680P,S470G,S544L,T1391N,T150S,T500I,V1352I,V426M,W225R,Y1384H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64283 607 dbsnp23024 NP_001231293.1 T25M 0 64283 607 dbsnp2303 NP_004696.2 "A679S,A706V,A81V,E144D,H532N,I355V,M525L,R696Q,R78Q,S620L,Y462C" "0,0,0,0,0,0,0,0,0,0,0" 5612 3510 dbsnp23035 NP_078945.2 "A241V,C351F,E279K,H537Y,I223M,Q500H,R128P,R208K,R342W,R594Q,R72C,S112N,S376P,S436N,V345M,V529F,Y103N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79722 4987 dbsnp23039 NP_877438.2 "M126I,P173S,Y107C" "0,0,0" 340069 10135 dbsnp23047 NP_001120983.2 "M1V,S26R" "0,0" 324 167 dbsnp23050 NP_001230022.1 "A115V,K342R,P437L,P61L,P680L,S135Y,S396F,V728F,W658S" "0,0,0,0,0,0,0,0,0" 2533 2971 dbsnp23055 NP_067610.1 A566T 0 9509 1342 dbsnp23095 NP_071423.3 "D72G,E505G,I177V,K435E,N425S,N526I,N532S,Q67H,R587L,S366T,T36M,T673I,V642F,Y495H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64097 4206 dbsnp23102 NP_001096079.1 R26P 0 133874 14627 dbsnp23108 NP_001129711.1 "A291T,A411T,A62T,D498N,G333R,R356G" "0,0,0,0,0,0" 93166 5201 dbsnp23113 NP_001154901.1 "A136D,A296V,C359Y,K274T,K439T,R159Q,T70R,T92P,V103I,V471D" "0,0,0,0,0,0,0,0,0,0" 202151 6853 dbsnp23119;dbsnp23120;dbsnp23121;dbsnp23122;dbsnp23123 NP_579916.1;NP_002864.1;NP_579922.1;NP_579921.1;NP_579920.1 N2H 0 5884 4257 dbsnp23129 NP_001138995.1 "A36T,A862S,D23E,E704K,K572T,L473F,M1T,Q529E,Q930H,S234C,S37N,V491L,V545M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 26064 2170 dbsnp23139 NP_065741.3 "A133G,F2021Y,G1586S,G228C,K1733Q,L175M,L2179F,N1760S,N197K,N2453S,N813K,P2169S,P2386A,Q143E,Q2316R,R173Q,R2132Q,R389H,T2203P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 404734 210 dbsnp23149 NP_001243469.1 "D149N,E182G,P199L,R120C,S186C,S186F" "0,0,0,0,0,0" 51491 12189 dbsnp23151 NP_001165344.1 W251R 0 133688 6234 dbsnp23155;dbsnp23156 NP_001035532.1;NP_001124430.1 S48R 0 2172 13427 dbsnp23158 NP_005640.2 "F437Y,G79V,I601F,N324K,P330L,R157K,R182G,R213C,R25Q,R299S,S87L,T148I,T15M,T222N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6940 5005 dbsnp23165 NP_001135778.1 "D22H,H39N,L56P,P220L,P220Q,R55C,S112L,S214N,W236R" "0,0,0,0,0,0,0,0,0" 285679 9581 dbsnp2317 NP_036507.2 "G21D,H265Y,R124H,R168Q,S272P,T174K,V151L" "0,0,0,0,0,0,0" 23538 10620 dbsnp23171 NP_150377.1 "A454V,A805T,C748F,E435K,G4S,G508S,G660D,H458R,L63F,P315S,P452L,P674L,P694S,P834A,Q103E,R838W,R883W,S284G,S740A,S830W,V848I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8728 2309 dbsnp23172 NP_699185.1 "A208V,E103K,N419D,V108G,V383I,Y25C" "0,0,0,0,0,0" 153396 6895 dbsnp23177 NP_001034852.3 "A152V,A486T,A625E,C78R,D125G,E452K,E569D,E610D,E632Q,H191Q,H642R,I481V,K7R,M3T,M422V,N482S,N6K,P647H,Q295H,R235H,R241S,R607Q,S335N,V290I,V357I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 642987 4519 dbsnp23180 NP_689761.2 "I395V,M380T,Q285H,R134C,R235K,R444H" "0,0,0,0,0,0" 153643 7554 dbsnp23181;dbsnp23182;dbsnp23183 NP_036338.2;NP_001092884.1;NP_001166864.1 "D99H,I134V,L179P,M158T,N342S,S185P,T152M,T153R,T154P,T154S,T174K,T174M,T186M,T194M,T207A,T240K,T240M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26762 9332 dbsnp23187;hgmd0613_1331 NP_005210.3 "E526G,K1064T,P736T" "0,0,0" 1729 1225 dbsnp23189 XP_933155.6 "G192A,R136S,R36W,S282T,S363P,T175M,T188A,Y206C" "0,0,0,0,0,0,0,0" 644994 9189 dbsnp2319 NP_001035835.1 "A24D,A24V,A38V,C43G,G32R,G32S,G47V,L144P" "1,1,0,1,1,1,1,0" 723961 12964 dbsnp23193 NP_001158136.1 "A1712G,A2389S,D1560N,D931G,E986K,G2308E,H2186L,H2514P,N801K,P106S,P2119L,R134W,R1624P,S1754F,S1863N,S2211C,S2211F,S2440T,V1795I,W1875R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375449 206 dbsnp232 NP_619540.1 "T45P,W62C" "0,0" 4477 14486 dbsnp2322 NP_001012302.2 "A51V,A767T,D83N,H103D,H103N,M478I,R159H,R321Q,R329C,R49Q,R702H,R91C,S730L,T604A,V202L,V400M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338440 3338 dbsnp23223 NP_055201.2 "C43Y,F605L,L507P,N463Y,P464L,V404I,Y277H" "0,0,0,0,0,0,0" 27039 4858 dbsnp23235 NP_001008657.1 Q955R 0 6949 847 dbsnp23239 NP_115783.1 E873G 0 56097 2367 dbsnp23243 NP_938080.1 "A323T,F351L,N170S,N243S,N579S,R171H,R171P,R296W,R359C,R464Q,V117I,V453M" "0,0,0,0,0,0,0,0,0,0,0,0" 55568 5107 dbsnp23250 NP_001037.1 "D257G,E1099G,E397D,G131S,G175A,G826S,I1150V,I341T,I341V,L395F,M402V,M794V,S1012N,S761T,Y1147H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6558 1388 dbsnp23252 NP_001191247.1 G229S 0 5618 4877 dbsnp23256 NP_001191244.1 R341W 0 5618 4877 dbsnp23261 NP_002073.2 "A567V,A576T" "0,0" 2870 5266 dbsnp23268 NP_001239314.1 R600Q 0 10318 4729 dbsnp23272;dbsnp23275 NP_001239322.1;NP_001239321.1 "R631I,R631T,R634K" "0,0,0" 10318 4729 dbsnp23279 NP_113685.1 N816H 0 56145 2345 dbsnp2328 NP_689528.2 "D146Y,D273Y,G176S,G211R,G9D,I198M,I272T,I281T,L322Q,N189K,P105A,R119Q,R216C,R216H,R279Q,R283W,S270F,T21I,T385A,T7M,V264I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120400 5703 dbsnp23280 NP_113598.1 "A744E,C759F,D768E,G685D,P726R,S773N,T738I,T738S,W806R,Y732C" "0,0,0,0,0,0,0,0,0,0" 56147 2345 dbsnp23282 NP_061747.1 "A257P,F20Y,G272D,G2R,H460P,I356M,L167V,L715M,N389K,P579T,R635S,R889H,R8K,S434F,V28A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56102 2405 dbsnp23285 NP_963921.1 "A471V,A78T,D436N,D438G,D464E,E62G,P404L,R333Q,R345H,R61G,S495C,V207A,V431A,Y506C,Y506H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90933 4800 dbsnp23286 NP_055798.2 "A1288G,A281V,A952V,C182F,E186K,E734K,H792R,I823V,L860V,N920S,P1195S,P280S,S394L,T1104M,V201I,V263I,V466L,V969I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22993 1179 dbsnp23290 NP_006135.1 "D24Y,G199E,M195V,R111C,R223Q,T172I,W153L" "0,0,0,0,0,0,0" 3001 11642 dbsnp23295 NP_001191305.1 "N305D,N305H,N305Y,R29L" "0,0,0,0" 4883 5979 dbsnp23296 NP_079126.1 "G311R,R326C" "0,0" 79908 6664 dbsnp23299 NP_001153181.1 W4C 0 79908 6664 dbsnp233 NP_001018081.3 "A20T,A275G,A275V,A366S,A716T,A755E,A755G,A945V,C1287G,D54V,G351R,G756V,G811A,G912E,H78L,I853T,K333E,K534E,M10I,M845R,P122L,P145L,P3S,Q352R,R277Q,R277W,R587W,R721H,R771Q,S153L,S874G,S934Y,T16M,T239M,T5M,T819M,V1072L,V371M,V708M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 143162 1151 dbsnp23303 NP_116565.3 "M1V,M50R,R49H,R51W" "0,0,0,0" 85027 14914 dbsnp23304 NP_060176.2 "D273A,E365K,E73K,P32L,R27W,V36A" "0,0,0,0,0,0" 54853 8930 dbsnp23307 NP_003053.1 "A254V,D165G,D345N,D845N,E1006K,G1518S,G841A,G841D,L1326Q,L1326R,L938Q,M798T,P1107R,P1113L,P1113R,Q1444R,R1084H,R1460C,R1460H,R313C,R494T,R682Q,S1492N,S279C,S528G,S629N,T1142P,T1188I,T398M,T778M,V1012M,V1169L,V1169M,V291M,V504M,V816I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6586 789 dbsnp23333 NP_001184223.1 "A556S,I255V,P86L,R554H,V262I" "0,0,0,0,0" 1809 4210 dbsnp23334 NP_001160006.1 S3P 0 54514 3843 dbsnp23340 NP_001189333.1 "A8T,Q16H" "0,0" 501 5997 dbsnp23349 NP_001245318.1 R142C 0 134145 12274 dbsnp23351 NP_114382.1 "D187N,D270N,D399N,E253K,E583D,G512E,G574R,G789S,H248P,H282Q,H622Q,I230V,I815T,K683I,K801R,L368V,L654F,L779F,P568R,Q98E,R222H,S215A,S669P,S734G,S816N,T778A,V152I,V371M,V546L,V658I,V708L,Y460C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56114 2405 dbsnp23354;dbsnp23355 NP_055548.3;NP_001098721.1 "A1125G,A258D,C829G,D217E,E1431Q,F1115L,I1155V,I1426T,I687V,I691M,K455Q,K663E,L55S,L609V,N1324S,N135S,P981S,Q1304R,R250Q,R394Q,R454G,S1330C,T1109I,T1352I,V137L,V43I,V63I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9765 786 dbsnp23356 NP_543157.1 "A158T,A351V,A445T,A474T,I448V,M271I,P371L,P555A,P577L,R228Q,R22G,R319P,S566A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1627 4586 dbsnp23359 NP_115778.1 "A349D,G44S,R430Q,S247P,S769G,V121E,V846M" "0,0,0,0,0,0,0" 5098 2367 dbsnp23360 NP_002579.2 R894H 0 5098 2367 dbsnp23368 NP_061161.2 "A149T,E407K,E495A,G122S,I221V,K65E,Q497R,S97L,T437I" "0,0,0,0,0,0,0,0,0" 10827 6571 dbsnp2337 NP_001139634.1 "A4G,C358F,C83G,E373K,L233R,R175W,S312T,S3A" "0,0,0,0,0,0,0,0" 390231 7598 dbsnp23373 NP_203128.1 "D217E,I218T,P73S" "0,0,0" 81786 6454 dbsnp23374 NP_061753.1 "A130S,A239V,A408V,A448D,A467G,A545V,A695G,D111Y,D446N,D740E,E528D,E684Q,F282I,G206E,G532S,I404L,I773V,L640I,L705F,N371K,P345R,P492R,R536H,R536L,R639S,R652C,S719G,S750N,T138I,T213R,T534I,V473I,V693L,Y117S,Y456C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56126 3101 dbsnp23383;dbsnp23384;dbsnp23385 NP_055191.2;NP_001032409.2;NP_001032410.1 "C1138S,D1231G,I783V,K320E" "0,0,0,0" 26999 1210 dbsnp23395 NP_852556.2 W6C 0 5295 3800 dbsnp2340 NP_060414.3 "A894G,D26H,D574N,G75V,N825D,R1143W,S55G" "0,0,0,0,0,0,0" 55031 1023 dbsnp23423 NP_775934.3 "A105T,E222G,E268K,E269A,F145L,G120V,G159S,M35T,S156G,T107I,T224I,V186L,V220G,V225I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285596 10660 dbsnp23425 NP_001192176.1 "D137N,E390K,P536L,R377C,T516M,V116M" "0,0,0,0,0,0" 23305 3713 dbsnp23432 NP_115796.2 "A514T,A712T,E928K,G903S,H25P,L15F,N601K,R1023C,R797C,R797S,T1117I" "0,0,0,0,0,0,0,0,0,0,0" 5097 1318 dbsnp23437 NP_001244951.1 "A546S,D497N,D801N,F598L,G16S,G874R,I558M,P273L,P35L,R218H,R218P,V500G" "0,0,0,0,0,0,0,0,0,0,0,0" 2890 2523 dbsnp23442 NP_055926.1 "R163Q,R317H,R89W,S66G" "0,0,0,0" 23138 5936 dbsnp2345 NP_001139291.1 "D81N,G504V,M807I,R12K,R558H,T761I,V392M" "0,0,0,0,0,0,0" 55553 2953 dbsnp23451 NP_001087195.1 "A264T,A7T,K59E,L325S,M293I,P142S,R308Q,R364Q,R398C,S232L,S344P,S394G" "0,0,0,0,0,0,0,0,0,0,0,0" 6414 8371 dbsnp23453;dbsnp23454 NP_057564.3;NP_001028284.1 "E55K,E70K" "0,0" 51247 14307 dbsnp23458 NP_113689.1 I793F 0 56143 2345 dbsnp2346 NP_001189368.1 "A233E,E340K,H264N,H317R,I422V,L277I,M61V,R231Q,R231W,R249Q,R324Q,R324W,S191F,S414L,T181S,T71M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374383 7510 dbsnp23463 NP_114442.1 I820T 0 56111 2367 dbsnp2347 NP_001035787.1 "A415T,E348K,G165S,I159M,M141L,M39V,V291I,W344G" "0,0,0,0,0,0,0,0" 55293 7186 dbsnp23481;dbsnp23483 NP_004884.1;NP_001035248.1 "I127F,P130L,V279G,V338M,W280G" "0,0,0,0,0" 9555 9171 dbsnp23487 NP_003193.2 P110S 0 6932 8881 dbsnp23490 NP_001123577.1 "D101N,P102L,P104S" "0,0,0" 10087 3596 dbsnp23491 NP_053583.2 "Q14H,Q89K,R197Q,R55H,R55L,V61I" "0,0,0,0,0,0" 662 11474 dbsnp23496 XP_001128459.4 "H146R,H240R,L429V,N212K,N219K,N252K,Q300R,R104K,R3L,R404H,R82H,S149I,S382L,S70N,T171R,V226A,V28M,V84M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 7372 dbsnp23499;dbsnp23500 NP_001159681.1;NP_001159680.1 "A151V,A689V,A825V,D67N,E183K,E505D,K512E,P516S,R527Q,R681C,R800C,S221L,S520G,T564N,V881M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11346 2439 dbsnp23509 NP_001116151.1 "A2580T,A600E,D410G,H472R,K1181Q,L179F,N2455S,N728S,R1061C,R1257Q,R1404H,R1430Q,R1940C,R1951H,R2419C,R7Q,S1781G,T1739P,T2521A,T885M,V1259M,V1319F,V2576M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57451 180 dbsnp23527 NP_114040.1 S787N 0 56141 2345 dbsnp23529 NP_061741.1 "A443T,E786K,F242C,G224S,G82S,I668N,N175S,P479L,R412T,R891H,T623M,V445L,V746F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56110 2367 dbsnp23531 NP_631938.1 "A639V,C972S,E370D,L1106V,L896P,L956F,M1181V,P1131A,R1170Q,S224F,T163I,T490M,V1021L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10902 1323 dbsnp23532 NP_077313.3 "P445T,Q200E" "0,0" 79192 7013 dbsnp23533 NP_001138604.1 "M80K,R45L,R91Q,S147R,S90F,T100A" "0,0,0,0,0,0" 100190949 13756 dbsnp23535 NP_001035536.1 "D206N,F609S,M429V,M504V,N271S,P411S,R701C,V459I,V742M" "0,0,0,0,0,0,0,0,0" 54545 3646 dbsnp23537 NP_001245357.1 "A679G,H957R,N804S,S638T,S930L" "0,0,0,0,0" 83697 2171 dbsnp23546 NP_004463.1 A88G 0 2297 7311 dbsnp23547 NP_057688.2 "A1198S,D315N,E1634D,E616D,N848S,P1151R,P1169S,T541S,Y216C" "0,0,0,0,0,0,0,0,0" 51780 579 dbsnp23550 XP_373076.5 "A70V,C173F,C173G,D114Y,I37T,L167I,M147V,P76H,R143S,R68T,S194L,V209I,V221M" "0,0,0,0,0,0,0,0,0,0,0,0,0" - 11735 dbsnp23553 NP_932079.1 "F11L,G365W,P299L,P399A,Q426E,R327T,S397R" "0,0,0,0,0,0,0" 10917 6664 dbsnp2356 NP_001005179.2 "D143A,I126M,I247V,I315V,L302V,M156I,N250S,R206Q,R206W,S240F,T24M" "0,0,0,0,0,0,0,0,0,0,0" 120793 9304 dbsnp23561 NP_001010891.4 "I55V,L136V,L245P,Q76L,R213P,R213W,R50K,S238R,S239C,W125C" "0,0,0,0,0,0,0,0,0,0" 345778 10610 dbsnp23562 NP_001161213.1 "R229Q,R229W" "0,0" 345778 10610 dbsnp23573 NP_001245212.1 "F62S,H177R,I93T,R123H,R265H,R308C,V175A,Y61F" "0,0,0,0,0,0,0,0" 26693 9213 dbsnp23582 NP_001229864.1 "C572Y,D579H,I593M,R12Q,R22H,R576Q" "0,0,0,0,0,0" 9627 2499 dbsnp23585 NP_463459.1 "E110G,E245Q,H235N,K74R,L506F,N290S,N490H,P187L,T27I,W25G" "0,0,0,0,0,0,0,0,0,0" 11282 5647 dbsnp23586 NP_001012779.2 "L206F,L474I,R21G,R362H" "0,0,0,0" 285704 7052 dbsnp23587 NP_660325.4 "G40R,M157R,T102M" "0,0,0" 153328 13789 dbsnp23592 NP_114480.1 "A267T,F104L,G469C,L211P,R628H,S816Y,V547A,V592G,W822C,Y403C" "0,0,0,0,0,0,0,0,0,0" 56105 2405 dbsnp23596 NP_036303.1 "C156W,I140T,N162S,N277T,P309L,V206I,V64M" "0,0,0,0,0,0,0" 26262 10102 dbsnp23597 NP_001006617.2 E263D 0 26262 10102 dbsnp236 NP_001242955.1 R14H 0 58504 3931 dbsnp23601 NP_689620.2 R4L 0 134266 12445 dbsnp23602 NP_064584.1 "A116V,D234E,E194G,I192R,L132P,L26F,P110T,R173G,S101F,T91M" "0,0,0,0,0,0,0,0,0,0" 56951 11592 dbsnp23603 NP_006807.1 "A134T,A330T,C16Y,I287V,L39S,M72V,P73L" "0,0,0,0,0,0,0" 10960 9467 dbsnp23604 NP_060504.1 "D205N,G119D,Q45R,T310M,T627A,Y388C" "0,0,0,0,0,0" 55100 4550 dbsnp23605 NP_001128251.1 "A889T,F313L,I6M,I977V,N300D,R636Q,S894C,T1002M,T309N,Y17C" "0,0,0,0,0,0,0,0,0,0" 51194 2049 dbsnp23618 NP_001020329.1 "A122P,G47R,M109T,R108H,R155H,R155L" "0,0,0,0,0,0" 972 10965 dbsnp23623 NP_940909.1 "D95G,G42D,N186S,P87T,S4T" "0,0,0,0,0" 345757 13179 dbsnp23628 NP_057306.2 "E2D,G20E,P38L,P38Q,R164W,Y33H" "0,0,0,0,0,0" 51428 4889 dbsnp23629 NP_057475.2 Q142P 0 51491 12189 dbsnp23637 NP_001157861.1 "N1366S,N1372T" "0,0" 51735 724 dbsnp23640 NP_001035095.1 "A33T,I478V,M79I,N75S,P279L,S533Y" "0,0,0,0,0,0" 10915 1721 dbsnp23642 NP_490645.1 "A238T,E303K,R287Q" "0,0,0" 7478 9627 dbsnp23643 NP_006687.3 P254S 0 10902 1323 dbsnp23646 NP_478137.1 "E603K,I207T,I422V,I571T,I599M,K132R,P269L,R230H,R523Q,S336N,S34P,V146A,V154A,V82I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117608 5005 dbsnp23648 NP_057065.2 "H219L,R74G" "0,0" 815 4409 dbsnp23656 NP_065847.1 "A931P,G795S,K126R,Q970P,S591A" "0,0,0,0,0" 57556 1984 dbsnp23658 NP_056031.2 "A1038V,A1141T,A944G,E985K,I730M,K685T,P1165S,P1185Q,R1003K,S1207G,S419A,T1162M,T1187I,T1211M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23262 931 dbsnp23660 NP_003305.1 "A29G,A76V,E238K,N283S,S138F,T117A,V285I" "0,0,0,0,0,0,0" 7265 11062 dbsnp23662 NP_001161048.1 "A132T,D720N,E295K,G28D,G333R,I442V,M375I,Q389E,R438H,V351M,V539I" "0,0,0,0,0,0,0,0,0,0,0" 57113 3211 dbsnp23665;dbsnp23666;hgmd0613_1624 NP_892022.2;NP_036475.3 "A1075V,I918V,I993V,K63R,L175M,L663F,M796V,N330S,P1020A,R27H,S18N,S926N,T475M,T731M,T802I,W43C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23530 1768 dbsnp23667 NP_000949.1 "A183G,G420D,P300S,V294I" "0,0,0,0" 5734 6878 dbsnp23675 NP_056157.1 "A156P,A33T,D110N,I438V,R49L,S285I,S5N,T223A,V612M" "0,0,0,0,0,0,0,0,0" 23398 4632 dbsnp23679 NP_001157912.1 "A165V,A398V,G372R,I169V,L211I,P388S" "0,0,0,0,0,0" 651746 6774 dbsnp23680 NP_689835.3 "A398V,L190V,M469T,N431D,N529S,N88D" "0,0,0,0,0,0" 166968 5842 dbsnp23682 NP_061862.1 "H704P,N584T" "0,0" 54439 1856 dbsnp23689 NP_001184151.1 P5T 0 5144 2686 dbsnp23690 NP_001017971.1 "N49S,Q179E,R63G,S88F,V118A,V75F,W4R,Y89H" "0,0,0,0,0,0,0,0" 92270 12464 dbsnp23699 NP_001164654.1 "H39Q,R108Q,V88L,Y13C" "0,0,0,0" 285588 13044 dbsnp237 NP_001242954.1 "A47V,A581V,A5P,E191Q,F17Y,G450R,G696E,M683V,R147C,R148Q,R162H,R192H,R34W,R618C,R643W,R675K,S491C,T11M,T364S,T416K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58504 3931 dbsnp23701 NP_001129588.1 "A8G,E159D,G86R,K173N,K515E,N305D,P174L,T112A" "0,0,0,0,0,0,0,0" 345462 4652 dbsnp2371 NP_001243437.1 "R171Q,R256H,R274G,R290Q,R63W,T211M" "0,0,0,0,0,0" 374403 7658 dbsnp23725 NP_001078846.1 "E390K,E580K,G715R,G715W,I294F,L651R,P676L,Q250H,R691L,R843Q,S310N,S642G,S642T,S941C,V363I,V477M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4163 2031 dbsnp23728 NP_001123363.1 "E421A,G136S,P362S,P59R,S226L,S230R,V166L" "0,0,0,0,0,0,0" 100131897 6063 dbsnp23729 NP_114037.1 "I632T,P576R,R543H,S642G,T680M" "0,0,0,0,0" 56142 2345 dbsnp23733 NP_061726.1 "A605S,G72R,I887T,K486E,L21R,P831R,R798H,S225C,S897G,T935M,V510M,V758L,W480R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56137 2345 dbsnp23737 NP_006074.2 "A238T,I322T,K310R" "0,0,0" 3550 5746 dbsnp23738 NP_006442.2 "I231V,R239C,V352I" "0,0,0" 10605 7031 dbsnp23743 NP_057728.1 "C150R,I255V,L94P,P87T,R183W,S251C,V25G" "0,0,0,0,0,0,0" 51334 10775 dbsnp23750 NP_001138347.1 "L225F,R302C" "0,0" 79930 6724 dbsnp23755 NP_079106.3 "A194V,A480G,E85K,K426R,L255Q,M427K,M427T,M482V,P506S,P508L,R413Q,S522L,T125A,V411I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79888 6084 dbsnp23763 NP_689898.2 "E367K,E8K,I222V,M262V,Q530K,T474M,V268M,V38M" "0,0,0,0,0,0,0,0" 9963 4594 dbsnp23771 NP_694949.1 "A36V,G116R,G205S,H208Q,I52F,P109L,P180T,S159T,V77I" "0,0,0,0,0,0,0,0,0" 134288 12068 dbsnp23774 NP_005660.4 "E149K,V45L" "0,0" 7905 13197 dbsnp23778 NP_115955.1 "C11R,S33G,V77I" "0,0,0" 84651 14800 dbsnp23779 NP_006152.2 "A15S,P220L,R34K,R57Q,T27I" "0,0,0,0,0" 4762 12190 dbsnp23781 NP_005556.1 "P285L,S410C" "0,0" 3937 6093 dbsnp23785 NP_001009877.2 "R69H,S48N" "0,0" 65980 5173 dbsnp23788 NP_001873.2 "A74T,E88D,S218Y" "0,0,0" 1393 10357 dbsnp23794 NP_075048.1 "A177T,A493V,C243Y,D229N,E353Q,F127V,F5L,H970N,I231T,K852T,L428F,N861S,N91S,P169R,P317R,R1074H,R181H,R491H,R673C,R725Q,R758Q,R882W,T183S,T508I,T764I,V1069G,V850I,V941I,Y19C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64901 1760 dbsnp23798 NP_001026982.1 "M1R,P165L,T26I" "0,0,0" 1456 7494 dbsnp23806 NP_003542.1 "I165M,I18N,L103F,M65I,S50N" "0,0,0,0,0" 8382 12705 dbsnp23807 NP_067627.2 "A58P,A58S,S561L" "0,0,0" 3781 3653 dbsnp23809 NP_919259.3 E428K 0 134218 5476 dbsnp23811;dbsnp23812;dbsnp23813 NP_001107866.1;NP_776158.2;NP_001107865.1 "H463Y,K468Q,L395F,P357T,P96L,V337A,Y58C" "0,0,0,0,0,0,0" 167153 6938 dbsnp23815 NP_061727.1 "A599D,D560H,G546S,G602C,G72R,G785R,G787R,I896T,N327K,P358H,P433S,P756R,P840R,R282G,R807H,S366R,S680L,S906G,T438R,T944M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56136 2345 dbsnp23817 NP_079217.2 "Q244K,S115F" "0,0" 80006 8223 dbsnp23824 NP_061757.1 "A448T,A515V,A619E,E522Q,F282L,F527L,G299E,G616S,G730V,H659Q,I312L,N487T,N510Y,P493S,P672R,R355I,R496P,S518A,S685F,S726L,S726W,S98C,S98Y,T151A,V103M,V473I,V617M,Y191H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56122 3206 dbsnp23825 NP_075053.2 "A391T,D184E,H98Y,R483Q,S554G,V438M" "0,0,0,0,0,0" 64924 3478 dbsnp23832;dbsnp23833 NP_065177.2;NP_001073153.1 "A13S,A15V,A41V,Q168H" "0,0,0,0" 57179 10766 dbsnp23838 NP_071928.2 "R111Q,S140L" "0,0" 64417 12646 dbsnp23839;dbsnp23840 NP_110426.4;NP_001020118.1 "A76V,C219G,N8K,V256I" "0,0,0,0" 81555 11272 dbsnp23843 NP_056130.2 "A44V,A63S,D529Y,G968V,P410L,P995L,R53M,R731Q,R85H,T299M,T50R" "0,0,0,0,0,0,0,0,0,0,0" 23367 2032 dbsnp23852 NP_004228.1 "C93R,G409E,L369M,R205Q" "0,0,0,0" 9319 7917 dbsnp23855 NP_002145.3 "A159T,C13S,E767D,E795Q,I288V,I772V,N45T,P696S,P792T,R645G,S323N,T649S,V132I,V498M,V80L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3308 2849 dbsnp23861;dbsnp23862 NP_001094286.1;NP_004261.1 "E202K,P188L,R211G" "0,0,0" 9443 12283 dbsnp23870 NP_002363.2 "A317T,A555T,D615E,F769S,F841Y,G46S,I1054M,I1136V,N126S,P1027S,P387L,P647L,R415H,R60H,R828T,V685A,Y1001C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4124 1554 dbsnp23871 NP_001096045.1 H619Y 0 112574 4816 dbsnp23872;dbsnp23873 NP_001124538.1;NP_001124537.1 "D91A,I140T,P134R,T176S" "0,0,0,0" 317671 12759 dbsnp23875 NP_940969.3 "I407T,M114V,N62D,R174Q,V185M,V260I,V423I" "0,0,0,0,0,0,0" 375484 2760 dbsnp23878 NP_001243662.1 "G226S,M266V" "0,0" 23635 8836 dbsnp23886 NP_001171476.1 "A285T,A66V,I13M,P289H,R205T,R276G,R288K,T154M,V140I,V91F,V91I" "0,0,0,0,0,0,0,0,0,0,0" 23743 8463 dbsnp23888 NP_001138426.1 "I123M,R35C,V140L" "0,0,0" 133491 13446 dbsnp23894 NP_001015891.1 Y126C 0 102157402 13520 dbsnp23897 NP_001124336.1 "E128G,G21C" "0,0" 114825 3571 dbsnp23899 NP_078870.1 "I196V,I301F,L324F,R251C" "0,0,0,0" 79646 5162 dbsnp239 NP_001159445.1 "E196D,E454K,H316P,N355K,Q170E,R138S,R341Q,R449Q,S119L,S251R,T20R,V458I" "0,0,0,0,0,0,0,0,0,0,0,0" 10718 3876 dbsnp23900 NP_005850.1 "L311V,Q128H" "0,0" 5813 10358 dbsnp23901 NP_008961.1 "A43S,D130G,G39A,G39S" "0,0,0,0" 11076 12561 dbsnp23902 NP_955525.1 L368F 0 3360 7991 dbsnp23905 NP_689759.2 "F253L,G245V,Q307P,Q56R,R22I,T265A" "0,0,0,0,0,0" 153443 7976 dbsnp23907 NP_689619.1 "D28N,D409V,D82N,E553G,K441R,L406P,L55R,L62R,N119S,Q347H,R301Q,R475Q,R502C,R591S,R620W,R683Q,R696H,R84Q,S104N,V37M,V515I,V728I,Y126C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 134265 3456 dbsnp23908 NP_588610.2 "A233T,A588T,A590T,I55V,N218K,P471S,R272L,R425H,R534H,S193Y,S28R,V167M,V312A,V570I,V713G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90249 2946 dbsnp23909 NP_922932.2 "D162Y,G264R,K790E,L102V,L909F,M752V,R1021H,R603W,S1047F,S210L,S798F,S90L,T422K,T422M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11174 1669 dbsnp23910 NP_570721.1 "A35V,L120P,P125A,R148K,R318Q" "0,0,0,0,0" 133619 7683 dbsnp23911;hgmd0613_1612 NP_036340.1 "E51G,G369R,I319T,P262A,R129H" "0,0,0,0,0" 23438 6481 dbsnp23912 NP_001017992.1 "D100E,E108K,I104V,L111P,M284I,R148W,R197Q,R207Q,R207W,R38S,T352A,V153M,V44I,V77A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 345651 1801 dbsnp23913 NP_004385.1 "P53S,R65Q" "0,0" 1611 14628 dbsnp23914;dbsnp23916 NP_001136071.1;NP_004190.1 N436S 0 8974 6064 dbsnp23915;dbsnp23917;dbsnp23918 NP_001136070.1;NP_001017974.1;NP_001017973.1 "A450G,A450V,A76S,F218L,H314Y,T261K" "0,0,0,0,0,0" 8974 6064 dbsnp23919 NP_055716.1 "A86T,C130S,R21Q,S143G,V329M" "0,0,0,0,0" 22838 6395 dbsnp23920 NP_542401.1 "A86T,F67L,G239S,Q78H,R108C,R135Q,R45Q,V256M" "0,0,0,0,0,0,0,0" 113829 10308 dbsnp23921 NP_001230882.1 "A625T,D65E,S128P" "0,0,0" 3796 3669 dbsnp23931 NP_061751.1 "A15V,A570S,D207N,D783N,L443F,M795V,N175S,P774H,R623Q,R751Q,R898H,V698L" "0,0,0,0,0,0,0,0,0,0,0,0" 56098 2367 dbsnp23932 NP_061745.1 "A523S,E58Q,H437N,I283V,K399E,P128L,P648A,Q13R,Q506H,R545P,R887H,S186I,T411K" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56104 2367 dbsnp23933 NP_003726.1 "A235V,A559E,G188C,G805R,I126V,L19F,L257S,L642F,L705M,L710V,N508S,P416L,R892H,S618A,S641N,T72M,V340L,V594E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26025 2367 dbsnp23934 NP_003727.1 "A491V,G780V,I228L,I709V,N377D,P464A,R425W,R883H,V420I" "0,0,0,0,0,0,0,0,0" 8641 2405 dbsnp23940 XP_003403435.1 "A161P,A161S,A161T,C203F,C203S,C203Y,L34M,L34V,R63S" "0,0,0,0,0,0,0,0,0" - 974 dbsnp23941 XP_003403436.1 "A161P,A161S,A161T,C203F,C203S,C203Y,L34M,L34V,R63S" "0,0,0,0,0,0,0,0,0" - 974 dbsnp23947 NP_001078880.1 "I424V,K120R,L224F,M409V,R211H,R392C" "0,0,0,0,0,0" 133686 7734 dbsnp23949 NP_938014.1 "M194L,N177S,P198T,P265L,R4G,S150Y" "0,0,0,0,0,0" 116068 10742 dbsnp23954 NP_004589.1 "A105T,A173T,K307N,N37S,P93S,R110S,S248F" "0,0,0,0,0,0,0" 6695 7793 dbsnp23955 NP_795714.1 "I32L,I69V,V210I" "0,0,0" 8611 10640 dbsnp23957 NP_060904.2 "G344S,P316L,T246A" "0,0,0" 55819 8186 dbsnp23958 NP_612378.1 V136M 0 91272 142 dbsnp23959 NP_001155018.1 "G122S,L292Q,P492R,P668L,R79C,S434F,V584I" "0,0,0,0,0,0,0" 389333 2050 dbsnp23961 XP_373078.1 "A31D,C23R,L125P,M101T,P168S,P66A,P67S,R113H,V134M" "0,0,0,0,0,0,0,0,0" - 11735 dbsnp23962 NP_004698.3 "E4K,H132R,I15F,I15V,Q6L,V8L" "0,0,0,0,0,0" 9140 14098 dbsnp23963 XP_379325.2 "G63S,P218H,Q126K,S299F" "0,0,0,0" - 10425 dbsnp23964 NP_056270.2 "G208S,H452R,H512R,S397T,V295L,V548I" "0,0,0,0,0,0" 57472 5747 dbsnp23965 NP_115743.1 "P213T,P38L" "0,0" 84327 12265 dbsnp23966 NP_004857.4 "G50S,R103P,R104W" "0,0,0" 9522 9728 dbsnp23967 NP_940968.1 "A413E,D13G,D477N,E325K,G121D,I275T,L456V,L575P,L633V,M268V,M334I,N501Y,Q495K,R183C,R537K,V20A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375444 4718 dbsnp23968;dbsnp23969 NP_001737.1;NP_001019820.1 "E540G,E540V,I29M,K551E,L140M" "0,0,0,0,0" 821 5019 dbsnp23971 NP_053586.1 "A385T,K256N,R236Q,R323Q,R561W,R571H,R586C,V421L,V421M,V582M" "0,0,0,0,0,0,0,0,0,0" 9542 2851 dbsnp23975 NP_001007190.1 "K31N,M1I,T18A" "0,0,0" 492311 14930 dbsnp23976 NP_057652.1 "G305E,H426Q,K303R,L133F,L391P,M109R,P136T,S186L" "0,0,0,0,0,0,0,0" 51289 7233 dbsnp23977 NP_001107033.1 "H229R,H249Y,L198P,N362S,R119Q,R170Q,R390H,R529H,T304I,Y122N" "0,0,0,0,0,0,0,0,0,0" 285671 5253 dbsnp23978 NP_851322.3 "E344D,G595S,I316T,I588V,M667L,N69S,T552P" "0,0,0,0,0,0,0" 353189 3846 dbsnp23979 NP_001186311.1 "A657V,K10E,L104F,M167V,N13T" "0,0,0,0,0" 153830 4140 dbsnp23983 NP_056381.1 "A210V,E511K,G234A" "0,0,0" 26049 4374 dbsnp23984 NP_036436.1 "H98Y,R258Q,T292I,Y322H" "0,0,0,0" 23194 6832 dbsnp23985;dbsnp23986 NP_150366.1;NP_001127694.1 "A401S,E255D,E267K,E271K,E271Q,G96S,K177R,K259R,N391S,S199N" "0,0,0,0,0,0,0,0,0,0" 153572 7194 dbsnp23987 NP_115782.1 A863T 0 56098 2367 dbsnp23990 NP_060791.3 "E324Q,G11V,H204R,I243T,I336S,K5R,R193Q" "0,0,0,0,0,0,0" 55299 9598 dbsnp23992 NP_006471.2 "G555R,N120S,R70Q,T292K" "0,0,0,0" 10636 5611 dbsnp23995 NP_001120968.1 "C186Y,K154R,P173H,S218Y,V281I" "0,0,0,0,0" 81848 10359 dbsnp23997 NP_001007528.1 "F692C,G549A,K28E,Q92R,R602H,R648Q,S298N" "0,0,0,0,0,0,0" 92255 4123 dbsnp23998 NP_001139791.1 "A406T,K35R,P356L,R32T,S249G,S375L,T66S,V34E" "0,0,0,0,0,0,0,0" 65983 7649 dbsnp24000 NP_001030005.1 P82L 0 55651 13852 dbsnp24001 NP_620128.1 "E379D,G245R,I248L,K256R,V211M" "0,0,0,0,0" 91137 8224 dbsnp24002 NP_061722.1 "A179T,F719L,I953T,P897R,Q173H,R864H,S451F,S963G,T1001M,V157A,V680L,V774A" "0,0,0,0,0,0,0,0,0,0,0,0" 56134 2084 dbsnp24004 NP_877725.1 Q10K 0 27430 10044 dbsnp24009 NP_003423.1 "D571N,H510R,R426S" "0,0,0" 7690 5293 dbsnp2401 NP_055303.2 "E142K,S112G,S77N,V115G" "0,0,0,0" 27314 12903 dbsnp24011 NP_149988.1 "A29V,E22A,R105H,Y146C" "0,0,0,0" 90355 12841 dbsnp24014 NP_057690.2 "A226V,P200L,R173Q" "0,0,0" 51308 11776 dbsnp24016 NP_085048.1 "E25V,L5V" "0,0" 80762 9991 dbsnp24017 NP_001146.2 "A98D,H508N,Q24H,S106L" "0,0,0,0" 309 4347 dbsnp24019 NP_001157940.1 "A363V,G32C,S233N,V246A,V330I" "0,0,0,0,0" 100302736 8513 dbsnp24020 NP_067681.1 "A194V,S64N,V161I,V77A" "0,0,0,0" 353376 8513 dbsnp24023 NP_001005473.1 "D107N,E126Q,T282M" "0,0,0" 345557 10384 dbsnp24025 NP_219482.1 "A437V,K125N,P140L,Y4S" "0,0,0,0" 90441 7070 dbsnp24026 NP_852100.3 "G106R,H86Y" "0,0" 114899 10426 dbsnp24027 XP_373077.2 "A138S,E38A,M160I,M160V,P168L,P189S,R127Q,R78G,V148L,V196I,Y193C" "0,0,0,0,0,0,0,0,0,0,0" - 11735 dbsnp24038 NP_114114.2 "E221K,Q78E,R120W,T167I" "0,0,0,0" 114898 10154 dbsnp24040 NP_115868.1 "P44A,R49H,R87W,S17R" "0,0,0,0" 64979 14615 dbsnp24044 NP_852607.3 "A207V,A429S,I401V,L193S,N277S,P389L,P503L,R167C,R394T,T513I,V607I" "0,0,0,0,0,0,0,0,0,0,0" 100130733 4890 dbsnp24045 NP_112556.2 "G256R,G292S,K92E,R245H,T107S,Y300C" "0,0,0,0,0,0" 3182 8156 dbsnp24048 NP_001156787.2 "K531E,P34S" "0,0" 64839 4070 dbsnp2405 NP_001137456.1 S93L 0 114971 12947 dbsnp24050 NP_001177716.1 "A93P,D84N,E286K,G274E" "0,0,0,0" 345643 8901 dbsnp24051 NP_065979.1 "A495V,E652D,H546D,R557C,R557H,R577C,R740H,T1012K,T689M,V636M" "0,0,0,0,0,0,0,0,0,0" 57688 1380 dbsnp24052 NP_001177875.1 "N592S,R753Q,S523F" "0,0,0" 54540 2607 dbsnp24053 NP_001157916.1 "G159D,R71C,S169I,W73G" "0,0,0,0" 646019 12089 dbsnp24054 NP_005702.3 "E478Q,I25V,K255N,R357W" "0,0,0,0" 10085 7014 dbsnp24056 NP_001139793.1 P45A 0 65983 7649 dbsnp24059;dbsnp24060 NP_001098028.1;NP_079206.2 "D20G,I75V,R259C" "0,0,0" 79993 11267 dbsnp2406 NP_057231.1 L310V 0 51400 8877 dbsnp24061 NP_001184147.1 V50A 0 5144 2686 dbsnp24062 NP_443203.1 "G22D,M11I,M11V,R69C" "0,0,0,0" 116842 14841 dbsnp24065 NP_001073947.1 "A52E,C125S,E432K,L476P,L491I,R406W" "0,0,0,0,0,0" 389257 6419 dbsnp24070 NP_848627.1 I416M 0 285671 5253 dbsnp24071 NP_004925.1 "A518D,D447N,E785Q,G614V,I570V,K339R,N346T,T38I,V198I,V729I" "0,0,0,0,0,0,0,0,0,0" 1016 3205 dbsnp24072 NP_001035523.1 M17I 0 643394 14795 dbsnp24075 NP_002095.1 "D213A,G216S,K133T,K239T,R169Q,S93A" "0,0,0,0,0,0" 3003 11617 dbsnp24076 NP_004923.1 "K34T,P283L,V254M" "0,0,0" 1004 3205 dbsnp24077 NP_001159371.1 "L76V,R31H" "0,0" 5144 2686 dbsnp24079 NP_003853.1 "P183L,R49H" "0,0" 8817 12025 dbsnp2407;dbsnp2408 NP_001123508.1;NP_001123507.1 "E83D,R71Q" "0,0" 58473 12063 dbsnp24080 NP_001129076.1 "D108N,L10F,V116A" "0,0,0" 11082 13301 dbsnp24083 NP_005462.1 I216T 0 10007 11132 dbsnp24084 NP_073599.2 "M381I,P321L,Q307H,R308W,S285N" "0,0,0,0,0" 64777 8741 dbsnp24085 NP_055288.1 "A104T,A241T,K275I,K275R,R145Q" "0,0,0,0,0" 27292 10596 dbsnp24088 NP_778232.2 G304S 0 255426 6992 dbsnp24090 NP_079030.3 "L145V,M285K" "0,0" 79810 8841 dbsnp24091 NP_065819.1 "A249T,D160N,I259V,I391V,S313T,T61M" "0,0,0,0,0,0" 57528 7992 dbsnp24093;dbsnp24094 NP_001229265.1;NP_005918.1 "D57G,G268S,I62T,V69I" "0,0,0,0" 4238 8415 dbsnp24095 NP_001030010.1 Q17R 0 30820 11194 dbsnp24096 NP_085130.2 "A700T,P157H,R134K,S364G" "0,0,0,0" 80315 1968 dbsnp24097 NP_057177.1 "K63N,Q66H,R126Q,V58I,V97M" "0,0,0,0,0" 51121 14019 dbsnp24099 NP_997291.1 "R48H,R95C" "0,0" 389320 14192 dbsnp24101 NP_612462.1 T201I 0 115827 12401 dbsnp24103 NP_631907.1 "I351T,N464S,R249Q,R254H,R309Q,R321W" "0,0,0,0,0,0" 140890 4861 dbsnp24108 NP_003365.1 "G82S,K61N" "0,0" 7416 10675 dbsnp24112 NP_001001325.1 "L11F,N51D" "0,0" 408187 14706 dbsnp24114 NP_689899.1 "I304L,R91G,T55I" "0,0,0" 202052 9484 dbsnp24119 NP_981951.1 "E5D,L196P,T46S,V42L" "0,0,0,0" 153364 11290 dbsnp24120 NP_065852.1 "D406E,N165S,S322A,T104I" "0,0,0,0" 57561 8203 dbsnp24121 NP_009208.2 "A102T,D570N,M558I,Q636K" "0,0,0,0" 11336 3663 dbsnp24122 NP_001038.1 "G128S,I153V" "0,0" 6715 11736 dbsnp24123 NP_149024.1 "C137S,N71S,T46I" "0,0,0" 85480 13757 dbsnp24125 NP_071428.2 "D52N,E120G,R193T,R26G" "0,0,0,0" 64105 11514 dbsnp24130 NP_683513.1 "A113T,G106V,H18R,M48K" "0,0,0,0" 56477 14308 dbsnp24132 NP_006458.2 "A2S,D180N" "0,0" 10622 12486 dbsnp24133 NP_055258.1 "G33R,P157L,R120W,R152C,R52W" "0,0,0,0,0" 27190 13368 dbsnp24134 NP_037369.1 "F218C,I39L,R127C" "0,0,0" 27166 12562 dbsnp24137 NP_001124527.1 E366K 0 3274 8652 dbsnp24138 NP_150597.1 R99H 0 92259 14616 dbsnp24139 NP_940851.1 "L227P,R128S,S309G,S39L" "0,0,0,0" 133418 10230 dbsnp24142 NP_001026881.1 A218T 0 57222 11109 dbsnp24143 NP_061960.1 V60I 0 54622 12894 dbsnp24144 NP_060135.1 "A10S,A10T,S105N,S131P" "0,0,0,0" 54819 13551 dbsnp24145 NP_689837.2 "P9S,V389M" "0,0" 167227 8150 dbsnp24148 NP_443095.2 G83D 0 92304 14600 dbsnp24150 NP_001136123.1 P330L 0 54492 5776 dbsnp24152 NP_071413.1 "N286S,T265I" "0,0" 64083 10919 dbsnp24153 NP_116154.1 "D100N,V19M" "0,0" 84851 4800 dbsnp24154 NP_061945.1 "M21T,S188T" "0,0" 54557 10593 dbsnp24156 NP_775935.1 "E191D,M195V,R200Q,R211W,V148L" "0,0,0,0,0" 285598 12045 dbsnp24157 NP_036411.1 "L275R,T231A,Y104F" "0,0,0" 23567 11015 dbsnp24162 NP_631903.1 "R147Q,R76H" "0,0" 134429 12870 dbsnp24163 NP_861974.1 G32C 0 51014 8513 dbsnp24166 NP_003705.1 "E169K,E293K,M86I,R154Q,R44L" "0,0,0,0,0" 8614 10823 dbsnp24167 NP_115485.1 "A95V,Q83K" "0,0" 23440 10285 dbsnp24168 NP_055428.1 "E5Q,R336W" "0,0" 23197 7684 dbsnp24169 NP_001157950.1 "N64D,N7S" "0,0" 401207 14130 dbsnp24170 NP_001035955.1 "I199T,L145F,L236V,M153V,S130T" "0,0,0,0,0" 730394 8678 dbsnp24172 NP_848664.1 "A127P,K89N,V45I" "0,0,0" 153571 14129 dbsnp24174 NP_840060.1 "H414Y,V160I" "0,0" 256987 7396 dbsnp24175 NP_775937.1 "A155T,A230T,A7S,E103D,R246C,T243A" "0,0,0,0,0,0" 285605 10920 dbsnp24177;dbsnp24178 NP_001129058.1;NP_689622.2 "H3R,M26V" "0,0" 134553 13221 dbsnp24179 NP_057547.5 D128G 0 51523 10360 dbsnp24180 NP_001124534.1 S126G 0 79685 14065 dbsnp24183 NP_001487.2 G188R 0 2676 8591 dbsnp24184 XP_002342536.2 "A104T,A50G,A50T,D18V,M126L,M181I,N176S,P24S,T122I" "0,0,0,0,0,0,0,0,0" - 11735 dbsnp24185 NP_004878.2 K73R 0 9547 14529 dbsnp24186 NP_001182510.1 "C41F,E102D,E123K,G140E,N2K,R129L" "0,0,0,0,0,0" 644100 13894 dbsnp24187 NP_076870.1 "A495T,G577R" "0,0" 1879 5164 dbsnp24191;dbsnp24192;dbsnp24193 NP_001093205.1;NP_001093206.1;NP_001816.2 A195G 0 1160 8187 dbsnp24194 NP_115737.1 "D193N,S29N" "0,0" 84321 9641 dbsnp24197 NP_001825.1 R142H 0 1212 11968 dbsnp24199 NP_001238898.1 G76E 0 64924 3478 dbsnp24201 NP_001229666.1 R2Q 0 - 13447 dbsnp24203;hgmd0613_1354 NP_005331.1 R37P 1 3094 13665 dbsnp24204 NP_066305.2 P285S 0 30012 10149 dbsnp24206 NP_660309.1 M84I 0 134492 13790 dbsnp24207 NP_775762.1 "E238V,R164H" "0,0" 134353 9434 dbsnp24209 NP_057064.1 P165L 0 51617 13271 dbsnp2421 NP_065203.2 "P37L,R247C,R84C,R84G,V195M,Y140C" "0,0,0,0,0,0" 10897 10548 dbsnp24210 NP_694948.1 R43K 0 134187 10208 dbsnp24213 NP_001092691.1 R56G 0 497189 13707 dbsnp24220 NP_919272.1 A55T 0 202051 12871 dbsnp24221 NP_001092198.1 "I101V,R54Q" "0,0" 728340 8678 dbsnp24222 NP_542387.1 D100A 0 91368 14458 dbsnp24223 XP_003403437.1 H45Y 0 - 974 dbsnp24224 NP_075043.1 H45Y 0 4671 974 dbsnp24236 NP_001099033.1 E83Q 0 54535 2767 dbsnp2424 NP_001123616.1 "A360T,A438V,A741G,D820N,D973E,G1118D,H367R,P972S,S1200N,V794M,V859G" "0,0,0,0,0,0,0,0,0,0,0" 4054 1160 dbsnp24241 NP_002113.2 "A107T,E217G,G78R" "0,0,0" 3117 11700 dbsnp24247 NP_001238978.1 "A138G,A60V,F131L,R5H,V178I" "0,0,0,0,0" 5110 11180 dbsnp2425 NP_006279.2 R75S 0 7070 13700 dbsnp24252;dbsnp24253 NP_000627.2;NP_001019636.1 L84F 0 6648 12489 dbsnp24254 NP_001019637.1 G76R 0 6648 12489 dbsnp2426 NP_001072118.1 "A67V,A69S,D81Y,S99I,S99N,T79I" "0,0,0,0,0,0" 80194 13082 dbsnp24262 NP_001186049.1 "C83Y,N111S,Q129P,Q157K,Q85H,R61S" "0,0,0,0,0,0" 79897 13690 dbsnp24265 NP_001186048.1 "A11G,C424Y,E283G,H232D,L194S,N290S,N452S,Q426H,Q470P,Q498K,S174F,V321F" "0,0,0,0,0,0,0,0,0,0,0,0" 202658 6354 dbsnp24269 NP_061984.2 "F178L,G5R,L242V,R148Q,V16L" "0,0,0,0,0" 3122 11700 dbsnp24296 NP_003640.2 "A350T,D15G,E355K,G295R,G38R,H258Y,H294Q,L283R,Q217E,R244Q,R321G,R321Q,R33Q,R33W,S222L,S336N,V140M,V159G,V312M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8528 9229 dbsnp24300 NP_060166.2 "A812T,C558S,E507D,E816D,F361L,G988S,H882R,H940N,M1139I,M887R,N304S,P1086T,P803L,Q5H,Q658H,R168Q,R256C,R666W,R970H,S1047T,S212C,S898F,T133A,T595M,T618S,T758A,Y697C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254394 1572 dbsnp24318 NP_892006.3 "A3919V,L3950F,L3956P,S3954T" "0,0,0,0" 23345 2 dbsnp24320 NP_001002255.1 "M1T,M1V,R51Q,T91M" "0,0,0,0" 387082 14604 dbsnp24325 NP_000535.3 "A324T,A328G,A374T,A500V,A565T,A578V,A609V,A684V,D256G,E41G,E552G,L234Q,L53V,M577V,M592I,Q330R,R235H,R2W,R313C,R313H,R56K,R651C,S289L,T257I,T499M,V15A,V467I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6891 4055 dbsnp24327 NP_002034.2 "A368V,D151N,D228E,D311N,F359I,H396R,I484T,I75V,L113P,M394R,Q252P,Q377R,R153W,R284C,R312H,R458H,R458L,R76Q,T330S,T455M,V346I,Y28C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2570 6854 dbsnp2433 NP_973726.2 T474A 0 7536 4345 dbsnp24333 NP_001107801.1 "G861S,G884E,P729T,R285K,R358K,S34Y,V308I" "0,0,0,0,0,0,0" - 1387 dbsnp24344 NP_001229627.1 "E135K,L10R,N68S,R3K,R70C,S77F" "0,0,0,0,0,0" 100130357 13872 dbsnp24349 NP_001186846.1 "T19A,V22D" "0,0" 5238 5555 dbsnp2435 NP_057648.2 "A70P,D99N,N74D,R147Q" "0,0,0,0" 51286 13935 dbsnp24352;hgmd0613_1960 NP_065796.1 "A386V,A815V,A867V,D287E,D969Y,E541K,G550A,I824T,L809Q,M362L,N399S,P388S,R356Q,R471Q,R554C,R554H,R678Q,R722W,R877Q,R877W,V549M,V59G,V730M,V814M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57505 2159 dbsnp24353 NP_001177915.1 "A157S,D147N,E233K,G151A,I65L,L172R,L31F,N156I,R113Q,S129P,Y190H,Y208F" "0,0,0,0,0,0,0,0,0,0,0,0" 10321 11531 dbsnp24361 NP_542780.1 V261G 0 135152 10045 dbsnp24362 NP_663630.2 "A179T,H236R,R201W,R279C" "0,0,0,0" 2651 8552 dbsnp24363 NP_001008505.2 "Q402H,Y419C" "0,0" 4988 6800 dbsnp24374 NP_001017361.1 "Q180H,R216G,T191N,V214F" "0,0,0,0" 154288 12586 dbsnp2438 NP_004065.1 "R18Q,R23C" "0,0" 1351 14881 dbsnp24384 NP_001158166.1 "C265R,C265Y,P250S,R237W" "0,0,0,0" 389434 11036 dbsnp24388;hgmd0613_702 NP_001136272.1 "A2537T,A2808T,C2063F,C2308Y,C554S,C975R,D1682Y,D1745N,D2475H,D583A,E2282K,E330K,E489V,E641V,F2954L,G1779S,G2566E,G618S,G631S,H1766Y,H2599R,H263R,H847Y,I1232F,I1232T,I1263V,I1361V,I1455V,I1764T,I2179V,I2188V,I2321L,I2694V,I2823T,I3070T,K1365E,K1633E,K2447Q,K2533E,K532N,L1305F,L1419S,L1748F,L1873V,L852P,N1163K,N1902I,N382I,P1844A,P94Q,Q1325E,Q571R,R1374Q,R1856W,R2326Q,S1881F,S2211L,S2556C,S326N,T120M,T120R,T1379A,T1799A,T1825N,T1993A,T2465S,T2810I,V112I,V2336I,Y240C" "0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0" 346007 128 dbsnp24390 NP_694857.1 "D504G,G481D,G481V,V464I" "0,0,0,0" 6580 5780 dbsnp24398 NP_694535.2 V15A 0 222659 14193 dbsnp24404 NP_002114.3 "A140S,A16P,A172P,A172S,A172T,A23S,A6P,A6S,A6T,A70E,A70G,A70V,D12G,D167A,D167G,D201E,D89A,D89G,D89N,D89V,E116Q,E194D,E98D,F119Y,F41L,F41Y,G102E,G102R,G157A,G157D,G157S,G200A,G200R,G246A,G45A,G77E,I250M,L107V,L28P,L28Q,L28R,L29V,L58F,L58H,L58R,L58V,M24I,M46L,P197L,P84L,P84Q,P88L,Q158H,Q168E,Q223H,Q253H,Q256P,Q256R,Q85L,R162Q,R199H,R199L,R199P,R252H,R87L,R87P,R87Q,S214I,S214N,S214T,S226C,S229N,S229T,S255G,S27A,S27T,S35P,T103A,T103N,T109R,T177I,T177N,T217I,T60S,V148I,V99I,Y155D,Y62C,Y62D,Y62H,Y62N,Y69D,Y69F,Y69N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3119 11408 dbsnp24412 NP_001255.3 "A483T,F202S,G409A,G409V,G85S,I48S,L410S,N179S,N527D,P192L,P226S,S159G,S3T,S434R,S453N,V506M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1041 6147 dbsnp24421 NP_619645.1 "E215K,K141T,L146P,L164F,M100I,M1I,P157L,P59H,P72L,T183M,Y114C" "0,0,0,0,0,0,0,0,0,0,0" 135644 11743 dbsnp24446 NP_001193856.1 "A2391S,A263E,A263V,A3315T,A3560T,A659T,A725G,A944T,D1459N,D1830E,D1843G,D1843H,D720V,E128D,E1371K,E1419K,E1483D,E1636D,E3702D,E4189D,E850G,E972V,F3546S,F3591L,F4652L,G1024E,G690R,H3735R,H935R,I1120T,I1849L,I2491V,I2780T,I2780V,I278V,I304T,I3093V,I4488V,I790V,K1411E,K1729Q,L1901F,L4034F,L4034I,L4536P,L4620F,M2682I,M3192V,N2375H,N288S,N3215Y,N3510S,N3782T,N3919S,P3728S,P42L,P4611A,Q3225K,R1422H,R1600S,R1737C,R242C,R242H,R2449L,R2592W,R2957C,R4219Q,R4461C,R4490C,R4583C,R699H,R827W,S2286G,S2970F,S4045T,S48C,S717C,T2661N,T331A,T3924M,T4323M,T4405M,T4608M,V1017I,V1716I,V2232I,V3237A,V3599I,V3599L,V451A,V874M,Y517H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1769 41 dbsnp24455 NP_036586.2 "A75T,A775D,A807T,A979T,D1519E,D1572E,D789H,E1520K,E207Q,E262K,G1427R,G1621R,G967R,H1575Y,I1029T,I1415V,I1590N,I339V,I785V,K1285R,K1643E,K373N,N556K,P803S,P803T,Q7H,R1101C,R1378W,R1655H,R236W,R332C,R332H,R412H,R634Q,R913H,R973W,S1522T,S1530C,S1615L,T1240M,T1266M,T1331A,T1421M,T1471M,T541M,V1359I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26230 640 dbsnp24457 NP_001006933.1 "E32G,T34A" "0,0" 6196 3662 dbsnp2446 NP_064538.3 "C9Y,K63R,P141L,P152A,P254S,P267L,R306Q,R78W,T280M,Y115F" "0,0,0,0,0,0,0,0,0,0" 56912 9545 dbsnp24463 NP_001714.1 "A1224V,A1430V,A1654V,A2379T,A812V,C2605F,D2060N,E1112D,E2113K,F1970S,G2252E,H1116Y,H1927R,H2626D,I2589V,K1270R,K1718T,L1417I,L1517F,L253V,L33S,M1146V,M172V,M837V,N1974S,N2402S,N947K,N993K,P1975S,P247A,Q1354K,Q1591P,Q1808R,Q1829E,R144H,R1467H,R1512Q,R1626C,R1840H,R2290G,R298H,R447W,R593H,R9C,S1399C,S365C,S649N,T1350M,T1977R,T2134M,T340I,V2011L,V2122I,V2125I,Y1810H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 667 5 dbsnp24464 NP_056363.2 "A5042T,C3510S,D3228Y,D3721N,K1657R,K1982E,K2102R,L4370V,M2075I,M2813I,P1984H,P2131A,Q1211P,Q1308R,R2291H,R2870C,R4095H,S2876C,T2726A,V1127L,V1910A,V2418I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 667 5 dbsnp2447 NP_734467.1 R8H 0 280636 14383 dbsnp24478 NP_002109.2 "A162P,A162S,A162T,A243T,A73V,F66S,R91H,S45C,T197I" "0,0,0,0,0,0,0,0,0" 3109 11621 dbsnp24480 NP_001008503.2 "A6D,A6V,R401G,R408C,R408S" "0,0,0,0,0" 4988 6800 dbsnp24485 NP_001138751.1 "A81D,Q44P" "0,0" 4988 6800 dbsnp24487 NP_001138754.1 K405R 0 4988 6800 dbsnp24489 NP_001157753.1 "D10N,G353D,H273Q,H323Q,H527R,H64P,N395S,P217T,R214K,R3Q,R74W,R78G,S319R,S94N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10758 5494 dbsnp2449 NP_476515.1 "D154G,E68D,H345P,S337L,V103M,V254L" "0,0,0,0,0,0" 9409 9776 dbsnp24491 NP_001182526.1 "T63A,V31M,V62M,W35L" "0,0,0,0" 100507203 14567 dbsnp24492 NP_114128.3 "D642N,E678D,I268S,P224L,P596S,P656L,P685S,S19T,T148M,T611A,V149G,V716I" "0,0,0,0,0,0,0,0,0,0,0,0" 85021 3254 dbsnp24498 NP_001185787.1 "A112S,A112V,A152G,A152T,A28G,D162G,E111Q,E63G,H139Y,L174F,Q121R,R157Q,R194C,S22R,V143I,V19A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3120 11408 dbsnp24500;dbsnp24501 NP_002281.3;NP_001098677.2 "A232T,D29N,D589E,E869K,E930G,F71I,G1110S,G1271E,G172S,G244R,G297R,G94S,I1810T,L485H,N1542S,N1542Y,P1112R,R1073Q,R1096C,R1472H,R1491H,R154W,R1775C,R507Q,R538C,R538H,R717K,S598G,V1808I,V977I,Y1012H,Y491H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3910 544 dbsnp24509 NP_001170990.1 "C329R,D124N,P330L,Q251E,R61S,V315A" "0,0,0,0,0,0" 100507436 8925 dbsnp2451 NP_006259.1 P75S 0 5977 8305 dbsnp24510 NP_005922.2 "N75D,P55S,T238S,T383A" "0,0,0,0" 4277 8925 dbsnp2452 NP_006833.2 "A26S,D728G,E370D,K422N,K857N,P251L,R134H,R146Q,V489I" "0,0,0,0,0,0,0,0,0" 10992 2637 dbsnp24521 NP_057192.2 "Q151E,T164A,Y117H" "0,0,0" 51390 12011 dbsnp24523 NP_060404.3 "H1432Y,N1742T,S1762F,T1529P,Y1272C" "0,0,0,0,0" 55023 298 dbsnp24528 NP_001138481.1 P341S 0 11119 5358 dbsnp2453 NP_073609.2 "D352H,I321V,L372F,M27T,P471L,Q55K,R20Q,S715R" "0,0,0,0,0,0,0,0" 64787 3919 dbsnp24532 NP_005507.3 "D217N,E110K,E135K,E135Q,E289K,G128R,L10P,P288S,Q276P,S78L,S87R,V313A" "0,0,0,0,0,0,0,0,0,0,0,0" 3133 7735 dbsnp24537 NP_006111.2 "D117N,D87N,R220W" "0,0,0" 3108 11670 dbsnp24542 NP_001157711.1 P8S 0 8449 1934 dbsnp24545 NP_001129625.1 "A257S,E3D,H598L,L695I,M309V,N624S,P465A,P49S,P669S,S155A,S203P,V38G" "0,0,0,0,0,0,0,0,0,0,0,0" 1388 4056 dbsnp24549 NP_620140.1 "K247E,N268T,P306R,V156I,W244G" "0,0,0,0,0" 116254 10155 dbsnp24551 NP_003517.2 "A5S,M1I" "0,0" 8347 14189 dbsnp24556 NP_001615.1 "A211T,A312S,A595V,A710T,A73T,C541R,D1188Y,D688N,E1100G,E1251D,E1292K,E351K,F1281S,F987L,K416R,K782T,L1235P,M1244L,M858I,N1303S,N907S,P1215L,P1259L,P597R,P765S,Q633R,R1593Q,R280Q,R294K,R509H,R532H,S10L,S648I,S652T,T1165M,T1435I,T436I,T650N,T879M,V1469M,V347I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 202 613 dbsnp24560 NP_001008783.1 "A351V,D328E,E321K,E411Q,G63E,Q317H,R383K,S24F,Y401S" "0,0,0,0,0,0,0,0,0" 340146 8267 dbsnp24567 NP_937882.1 P9R 0 8838 9176 dbsnp24570 NP_001189451.1 "M475V,P469L" "0,0" 780 2507 dbsnp24575 NP_001003699.1 "A1066V,A255T,A741T,A851S,A963V,C1572G,C406Y,D1171N,D342N,E1228K,E961G,E967K,G1439R,G195R,G421S,G783V,K548Q,K60E,L1035F,L1340V,L1522P,L983S,M610I,N273S,N408S,N897S,P1311S,P162L,P1696L,P185T,P43L,P46S,P535L,P969S,Q1491H,R1155Q,R1384H,R1472G,R1673Q,R167Q,R315C,R315G,R691H,S1530F,S1554Y,S4N,T1692M,T90A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6239 599 dbsnp24577 NP_001156863.1 "C332R,C583R,G114R,H463Y,H603Y,K476E,K82E,M11T,N392D,P229A,R294K,R578G,Y330C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9753 5016 dbsnp24587 NP_001128578.1 "A277E,D275V" "0,0" 83795 10361 dbsnp24591 NP_001193972.1 "C14R,E157D,E160D,F71S,G31A,G31D,P62S,Q153P,R34P,R34Q,R82P,S47P,Y183H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 554223 13198 dbsnp24593 NP_001014433.1 "P161L,Q145K,R184H,S146T,S26P,S4P,V92L" "0,0,0,0,0,0,0" 51596 13022 dbsnp24595 NP_001091949.1 "A13V,G388D,K331M,K331R,K332N,N353H,N353I,P272S,P71Q,R385Q,R413C,T246I,V160L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3134 7735 dbsnp246 NP_004397.2 "C519S,H585Y,I556M,P555L" "0,0,0,0" 1755 268 dbsnp24605 NP_061313.2 L647F 0 6891 4055 dbsnp24630 NP_000867.2 "A1752V,A2308T,A2308V,A2459E,D1365G,D1514N,D1976V,D355N,G1315A,G239E,L1812F,M427I,N1126S,N1226S,N2192S,N543S,P666L,P722L,P949L,R249W,R719T,R895S,S1194L,S2286N,T1504I,T1822M,T232A,T462M,T805M,V1901I,V2127M,V255E,V83I,V870E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3482 243 dbsnp24644 NP_001138600.2 "A191G,A412V,C339S,D514E,D739V,D759Y,E254K,E703A,G1443R,G509S,G798R,H1439L,I1202T,I348M,I658M,I95L,K1033T,K1174N,L1103I,L748F,L987F,N1558D,P1100H,P1694S,P1792L,P815S,R1117C,R1205I,R1299Q,R283Q,R48H,S493P,S504F,S85G,T251A,V1555I,V419I,V485I,V727L,W1591C,Y321C,Y422C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221264 476 dbsnp24646 NP_598400.1 "D408N,I362M,K321E,L419M,M351V,M361T,P672L,Q331R,R212C,T207M,T308A,V379G,V542M,Y526H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25821 3769 dbsnp24659 NP_001193865.1 "L276F,V284L,V297M" "0,0,0" 177 8163 dbsnp24661 NP_751947.1 P291L 0 177 8163 dbsnp24666 NP_757346.2 "D325N,D59Y,P110L,P281L,P54R,P99S,R121H,R216Q,R246Q,T173R" "0,0,0,0,0,0,0,0,0,0" 6892 6597 dbsnp24669 NP_001184169.1 "A255P,R246Q,R246W" "0,0,0" 10385 5325 dbsnp24698 NP_258261.2 R549T 0 89845 841 dbsnp24705 NP_001124162.1 "D717N,P487A,R496Q,R716K,V416I,V494I" "0,0,0,0,0,0" 10846 3298 dbsnp24729 NP_002386.1 "D335A,E83V,G321S,G338R,I473M,L123P,Q295H,Q567R,R212W,R254H,R427C,V232I" "0,0,0,0,0,0,0,0,0,0,0,0" 4199 5092 dbsnp2474 NP_055802.1 "A736S,E866G,Q1331R,T7S" "0,0,0,0" - 1068 dbsnp24741 NP_003183.1 "E340Q,M1I,N213S,R111Q,R66Q" "0,0,0,0,0" 6903 9764 dbsnp24742 NP_001087197.1 "D45A,G266A,G358R,G358S,M303V,Q441R,R442Q,V101A,Y171C" "0,0,0,0,0,0,0,0,0" 6954 6387 dbsnp24744 NP_001193966.1 "A151T,A191V,G140S,G4R,H79Y,L22F,P153L,P249L,P282Q,R11W,R13H,R212P,R212Q,R3C,R6Q,R6W,R8Q,T178I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51513 9879 dbsnp24747 NP_001193969.1 "A5T,R15L,R15Q" "0,0,0" 51513 9879 dbsnp24754 NP_001229519.1 "L147P,S150C" "0,0" 54210 12255 dbsnp24757 NP_258443.2 "A967T,G310A,G644C,G850S,I537T,I745N,L667H,M411L,M494T,M624T,P49T,P591T,P762L,P762Q,P934L,Q33R,R25G,R59Q,S439T,S657Y,S6N,S913I,S959N,S99G,T590K,T810N,T862I,W106C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94026 1963 dbsnp24759 NP_001186438.1 "G161R,M75V,P244S,Q20R,R143H,R163T,R232W,S139P,T194M,T74M,V123I,V214I,V31M,Y266N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9436 11341 dbsnp2476 NP_001091639.1 "H231Q,P11A,T196P" "0,0,0" 390259 12278 dbsnp24763 NP_543146.2 "A11T,A1224T,A340V,A359G,D1251N,D972N,E1157Q,E1295K,G1213R,G28D,G965E,K155R,L196S,P860A,Q1269R,R1393Q,R939Q,S576Y,T1188M,T1202K,T1282M,T894A,T967M,V1238A,Y1348S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 135656 993 dbsnp24764 NP_996805.2 "E165Q,F13L,I188T,W25G" "0,0,0,0" 401262 12793 dbsnp24766 NP_002260.2 "A292T,D87N,K252N,L209M,P70S,P79A,Q529R,S16N" "0,0,0,0,0,0,0,0" 3841 6005 dbsnp24772 NP_004838.1 "R15W,S69F" "0,0" 199 14224 dbsnp24784 NP_055269.1 "G96R,I179T,L103I,M71V,P207S,P316L,R21T" "0,0,0,0,0,0,0" 27244 5835 dbsnp24788;dbsnp24789 NP_612428.2;NP_001092756.1 "D67V,H298L,N6S,P216A,P344A,R180C,R286C,R286H,R302I,R360P,R360Q" "0,0,0,0,0,0,0,0,0,0,0" 113115 8902 dbsnp2479 NP_001004725.1 "E20D,H23Y,I90L,K293E,L263R,M116T,N289D,R137Q,R231W,V242I,V7A,V85L,Y58C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 256148 9203 dbsnp24797 NP_116249.2 "F231C,K345R,K374T,K439E,K73R,N201S" "0,0,0,0,0,0" 84946 7120 dbsnp2480 NP_009114.1 "A146T,A206P,D290G,D350E,G100E,G461D,G677S,N477K,P188T,P322A,R122C,R173W,R182C,R185W,R655P,R755Q,T444M,V17M,V363M,Y789F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11187 3236 dbsnp24809 NP_001165463.1 "P100L,T72A" "0,0" 221416 12076 dbsnp24821 NP_001138593.1 "A244T,A8T,E137D,G232R,G254R,G324S,L228P,N323K,R194H,R273H,R289W,R9G,V255G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 401285 9584 dbsnp24841 NP_001137412.1 "D207V,E193K" "0,0" 51557 6485 dbsnp24847 NP_001123367.1 "A62V,G57R,H95N,P108Q,P60S,S63F,V127G,V76A,V90A" "0,0,0,0,0,0,0,0,0" 100128124 13534 dbsnp24848 NP_001185744.1 "A1067S,A1291T,A1297T,A1375G,A442S,A78T,A96P,E1101K,E624D,E624K,G1001V,G120V,G1557R,G1742S,I128V,I171V,K1046E,K524E,L1539P,L1565P,M1036T,M1036V,M342V,N1687D,N1712K,P1478A,R109G,S1028T,S1088Y,S1473P,S1495T,S1568T,S1570C,S315F,S470C,S57T,T1049I,T1059I,T1098N,T1127N,T1157N,T1376A,T190S,T228I,T249M,T319A,T421S,T657I,T71A,T860A,T870A,T890I,T896S,T906S,T975I,V1614I,V349I,V359I,V402M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100507679 574 dbsnp2484;dbsnp2486 NP_705839.3;NP_001154924.1 "R225H,V157I,V214G" "0,0,0" 220002 11727 dbsnp24854 NP_065870.3 "D1029G,D670G,G809D,I137M,I512V,L1124V,P448R,P741S,Q248P,R265Q,R520Q,S1252N,S166N,S718C,T436S,T498K,T663M,V646A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57579 806 dbsnp24861 NP_001239527.1 "L8P,R22Q" "0,0" 1208 14513 dbsnp2487 NP_001138343.1 "D50N,I193T,R113S,S129I,T75M,V151L" "0,0,0,0,0,0" 387804 12965 dbsnp24872 NP_996534.2 P210S 0 4340 11880 dbsnp24882 NP_001164163.1 "E282A,E681D,I697T,N40S,P187S,P821L,S10L,T169I,V540L" "0,0,0,0,0,0,0,0,0" 285782 2972 dbsnp24885 NP_004601.3 "A318T,D110E,G18E,H104P,H85R,K296N,R262W,S15G,T217A" "0,0,0,0,0,0,0,0,0" 6953 9584 dbsnp24886 NP_033666.1 "A69G,G55S,I67M" "0,0,0" 4050 12031 dbsnp24892 NP_077084.1 "G131S,I479V,K304R" "0,0,0" 5252 5582 dbsnp24893 NP_002627.1 G430A 0 5252 5582 dbsnp24894 NP_112167.2 "A107E,A302V,K312M,M203T,R140C,R87Q,T111A,T218A,V146A,Y74H" "0,0,0,0,0,0,0,0,0,0" 26707 9497 dbsnp24895 NP_001138433.1 "R209C,R236Q,S42Y" "0,0,0" 4795 8957 dbsnp24901 NP_001005216.2 "A109T,I228V,M261I,P286S,V240A" "0,0,0,0,0" 442186 9497 dbsnp24903 NP_001180270.1 "D217G,R278H" "0,0" 221421 10743 dbsnp24909 NP_733758.1 "A71S,A71T,G155D,K23N,M62V,T134M,T97A,T97S" "0,0,0,0,0,0,0,0" 167 11940 dbsnp2491 XP_002343157.1 "E384D,M1V,P389A,R236P" "0,0,0,0" 100287837 7613 dbsnp24914 NP_786944.1 I858V 0 2898 2501 dbsnp24923 NP_001171506.1 G26E 0 387119 3159 dbsnp2495 NP_037534.3 R21K 0 3992 6644 dbsnp24953 NP_003634.2 "A88T,D278N,D5N,E195D,F236V,G185R,H369R,H423L,S378F" "0,0,0,0,0,0,0,0,0" 8521 7846 dbsnp24959 NP_001244202.1 "D488N,D91E,E78Q,S161C" "0,0,0,0" 26036 1851 dbsnp2496 NP_612202.1 "A743T,A743V,A757T,D297Y,E855K,G108A,G517R,G821S,K223N,L801F,P244A,P519T,P587L,R187S,R447C,R653G,R653P,R753T,R767T,R809W,V792A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 171389 2652 dbsnp24962 NP_872358.4 "A603V,A727V,D806N,F570C,F867L,G218S,G315E,L133P,P500L,Q633R,R168P,R467H,R615H,R822W,R845C,T542S,V423L,V525M,Y669H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 253769 2638 dbsnp24978 NP_001158167.1 F231I 0 389434 11036 dbsnp24985 NP_001159896.1 "A204T,G314E,Q241H,R55C,S131F,S136T,T129I,T140A,V212I" "0,0,0,0,0,0,0,0,0" 5225 8842 dbsnp24992 NP_612352.1 T303M 0 89953 4727 dbsnp24998 NP_001122064.1 "G104R,G86V,L112P,W99R" "0,0,0,0" 389362 13691 dbsnp25008 NP_690620.1 N410Y 0 5754 1819 dbsnp25012 NP_001242950.1 "G265A,G265D,G274R" "0,0,0" 10345 3788 dbsnp25021 NP_001034740.1 "E136K,G8R,L123P,N107D,N86K,P30S,P99L,Q74R,R151S,R177H,R40C" "0,0,0,0,0,0,0,0,0,0,0" 401251 13406 dbsnp25022 NP_722581.4 "A156T,C450W,D42N,D604N,G226V,G295A,I399V,K165R,K359E,L256M,L617P,Q80R,S181N,S194N,S49P,V490A,Y23C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222611 4000 dbsnp25029 NP_001193937.1 "D1363N,D274E,E1448G,E642G,E659D,G1703E,I422V,I810T,L1494V,L974F,N1433D,N420S,N632S,P1124L,P1349L,P1447T,P379A,Q1291L,R1254H,R1263Q,R507K,R694Q,S1170G,S1174F,T1194M,T575I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4301 595 dbsnp25048 NP_001138679.1 "C398Y,E221K,E343A,K577R,M231V,N386D,R421C,S172T,S602N,V346I" "0,0,0,0,0,0,0,0,0,0" 10767 4233 dbsnp2505 NP_001001920.1 "A106D,F80L,G199E,G204E,G205D,L14H,L214I,L240F,L275S,L338W,L66F,M151L,N228H,P25S,P44S,R175H,R286C,R286H,S146C,V129L,V136I,V167D,V253I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81309 9203 dbsnp25056 NP_003514.2 "G27S,P4L,S7C,S7Y,T20S" "0,0,0,0,0" 8344 14189 dbsnp25058;dbsnp25059;dbsnp25060;dbsnp25061 NP_001139491.1;NP_001139492.1;NP_001139490.1;NP_542171.2 "A452P,D75N,P479L,R319H,R333H,R359Q,R361C,R361H,R406Q,R453Q,R55H,S439N" "0,0,0,0,0,0,0,0,0,0,0,0" 93643 5748 dbsnp25067 NP_001161842.1 "G27R,P49R" "0,0" 9820 570 dbsnp25083 NP_001010868.2 "A72V,D65V,H45Y,I223T,I2M,K8R,P22S,R41H,V188M" "0,0,0,0,0,0,0,0,0" 206412 10182 dbsnp2509 NP_612377.4 "A190T,A686V,G170V,L211F,L422H,L434F,M410I,P437S,R399C,R613H,V657M" "0,0,0,0,0,0,0,0,0,0,0" 91056 2726 dbsnp25093 NP_001010904.1 "A118D,D163N,I103T,L147F,M16T,N161D,Q104K,S186F" "0,0,0,0,0,0,0,0" 389396 11149 dbsnp251 XP_002343013.1 "H132Y,M104V,P129S" "0,0,0" 100289151 4142 dbsnp2510 NP_001099035.2 "C452Y,D294G,N71I,R345G,R345Q" "0,0,0,0,0" 219537 6766 dbsnp25102 NP_862825.1 "G365D,P226S,S270P,V49I" "0,0,0,0" 221527 7426 dbsnp25107 XP_003118600.1 "A39E,P110Q,R114T,W135S" "0,0,0,0" - 14022 dbsnp25113 NP_112534.1 "H287L,I289M" "0,0" 23408 10654 dbsnp25116 NP_663624.1 "E298K,L284F,T102S" "0,0,0" 2651 8552 dbsnp25118 NP_001128577.1 "P277R,V263I" "0,0" 83795 10361 dbsnp25123 NP_852001.1 "D216E,D253A,D290N,I187V,I271V,I301V,Q175R,R45K,S27L,T269A,T7M" "0,0,0,0,0,0,0,0,0,0,0" 8464 8597 dbsnp25124 NP_001155907.2 "A172E,G202R,K235M,Q200K" "0,0,0,0" 100287718 11902 dbsnp25125 NP_001139124.1 "D104Y,D3N,E82Q,F32L,S222P,S22T" "0,0,0,0,0,0" 135398 12033 dbsnp2513 NP_001138346.1 "C90G,L15F" "0,0" 399968 14682 dbsnp25130 NP_001010852.2 "E243D,E316G,N319K,S178N,V213M" "0,0,0,0,0" 134829 9576 dbsnp25137 NP_742103.1 R605Q 0 2070 4703 dbsnp25138 NP_067633.2 H363N 0 59336 4021 dbsnp2514 NP_002398.1 "A18V,D36N,E57K,M8I,S94R" "0,0,0,0,0" 4246 14720 dbsnp25145 NP_001239312.1 K42R 0 1081 13986 dbsnp25166 NP_065188.4 "C1013W,D306Y,I147N,L929F,P362L,T70M,T833K,V334I" "0,0,0,0,0,0,0,0" 57211 1281 dbsnp2517 NP_054874.3 "E99K,R181W,T91P" "0,0,0" 29068 5546 dbsnp25173 NP_004339.3 "G497C,G497R,G497S,I3F,N375S,N85I,P15S,R237C" "0,0,0,0,0,0,0,0" - 6275 dbsnp25174 NP_001856.2 "A82S,A84T,C26Y,V11L" "0,0,0,0" 1347 14481 dbsnp25176 NP_689947.2 "H310R,I118F,I118V,I323M,P58H,Q247K,S271C,V335L" "0,0,0,0,0,0,0,0" 221477 9573 dbsnp25180 NP_001014840.1 P7S 0 51596 13022 dbsnp25192 NP_003008.1 R98C 0 6428 13654 dbsnp2520 NP_002224.1 "G363R,P357T" "0,0" 3739 4561 dbsnp25200 NP_005266.2 "A493V,A509V,E326K,H250Y,H519Y,P405R,P433H,R262C,R308W,V184G,V212M,V510E,V510G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2794 5060 dbsnp25204 NP_612121.1 "G214C,S198G" "0,0" 80739 12094 dbsnp25206 NP_612117.1 F144L 0 80739 12094 dbsnp25208 NP_079538.3 "F56L,M113I,N47S,R61C" "0,0,0,0" 80741 13931 dbsnp2521 NP_001136418.1 "G30S,R150Q,S3L,V24M" "0,0,0,0" 29125 13399 dbsnp25211 NP_997465.1 "A359T,I117T,I288M,I518V,L432V,R77Q,S536L,T424M,V144G" "0,0,0,0,0,0,0,0,0" 405754 6025 dbsnp25214 NP_055267.1 "A387T,G62S,L478I,N527S,R382Q,S218F,T291I,V589G" "0,0,0,0,0,0,0,0" 27242 4541 dbsnp25223 NP_056370.2 "H416R,H634Q,P207T,P597L,Q816R" "0,0,0,0,0" 26036 1851 dbsnp25227 NP_068811.1 "A295V,I445V,L522F" "0,0,0" 6257 6094 dbsnp25231 NP_001136273.1 I616L 0 346007 128 dbsnp25238 NP_115900.1 "A99V,E350K,K353E,L86V,P108R" "0,0,0,0,0" 84553 8416 dbsnp2524 NP_001093123.1 K68R 0 55199 13622 dbsnp25240 NP_660358.2 "A207T,A358T,A408V,E201K,F455L,H73R,I371V,L14V,L229H,L7P,M307T,P128A,P411R,R403H,V145A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 246269 6997 dbsnp25243 NP_001243817.1 "E8K,R121C,Y39C" "0,0,0" 221301 13535 dbsnp25244 NP_066406.1 "M63V,V45G" "0,0" 3018 14189 dbsnp25245 NP_072047.4 "A3T,A628V,D569H,G351S,I623T,R100Q,R578W,R662Q" "0,0,0,0,0,0,0,0" 6293 3857 dbsnp25251 NP_851853.1 "A112V,A121V,C261R,K332R,T477M" "0,0,0,0,0" 221496 6610 dbsnp25252;dbsnp25253;dbsnp25254;dbsnp25255 NP_001245205.1;NP_001245206.1;NP_443145.1;NP_001245207.1 "A211P,I146V,I351T,I450N,T172M,V341L" "0,0,0,0,0,0" 114801 6833 dbsnp25256 XP_003403486.1 "I70V,R106C,Y168H" "0,0,0" - 5 dbsnp25263 NP_898861.1 "A303T,H297Y,L276V,V292M" "0,0,0,0" 84062 9628 dbsnp25266 NP_001238803.1 Y21C 0 80759 12191 dbsnp25272 NP_001137148.1 "M32V,Q66E" "0,0" 6446 6199 dbsnp25275 NP_001138753.1 A4V 0 4988 6800 dbsnp25287 NP_997382.2 G303A 0 442213 2924 dbsnp25290 NP_001159950.1 V25M 0 403339 14913 dbsnp25295 NP_112231.3 "G42W,P4L,R108C,V28I,V63I" "0,0,0,0,0" 81853 14484 dbsnp25297 NP_542781.3 "K183R,Q149K" "0,0" 135295 11693 dbsnp25298 NP_079185.2 "A209V,D109Y,G313V,H192P,I47V,I97M,R14Q,R319H" "0,0,0,0,0,0,0,0" 79969 8417 dbsnp25299 NP_001026892.1 S325N 0 79969 8417 dbsnp25302 NP_476502.1 "H191Q,S379P,V110I" "0,0,0" 116138 8946 dbsnp25304;dbsnp25305 NP_113597.2;NP_004358.2 "A369V,F236L,G345S,R159S,Y26C" "0,0,0,0,0" 1235 9125 dbsnp25306 NP_009224.2 "N1176S,R844H,R916Q" "0,0,0" 720 594 dbsnp25311 NP_001154848.1 "D430E,G79E,R199G,R401C,T224A" "0,0,0,0,0" 221545 6732 dbsnp25316 NP_037529.3 "A100T,A255V,D336N,E211G,E94K,G137R,G322R,R113H,R147H,R244G,S306R,V3G" "0,0,0,0,0,0,0,0,0,0,0,0" 29964 8920 dbsnp25318 NP_620583.1 T286M 0 1432 9253 dbsnp25319 NP_002028.1 "N400S,R29C,V63I" "0,0,0" 2534 5941 dbsnp25324 NP_004656.2 "D112E,D305N,G389R,L53P,L53V,N147D,R205S,R393Q,S46F,T17N,T424A,T89I,V174M,V241I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8875 6292 dbsnp25329 NP_005913.2 "A1196V,A1492V,G306E,G437V,H906P,I1037T,I206V,K333R,L414V,N1003K,N195H,P64S,P86R,Q584H,R1007H,R1308T,S63G,T75I,V335I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4216 726 dbsnp2533 NP_001137509.1 A351T 0 84866 9279 dbsnp25335 NP_958437.1 "E77K,G19S,N147D,P9L,P9S" "0,0,0,0,0" 63915 13238 dbsnp25336 NP_001186251.1 E13K 0 63915 13238 dbsnp25340 NP_694987.1 N389S 0 254394 1572 dbsnp25348 NP_892011.2 G159E 0 4739 3008 dbsnp25350 NP_036292.2 "D249E,H35Q,I246T,I464V,M463T,N324S,R98Q,T181A,T27A" "0,0,0,0,0,0,0,0,0" 26235 4903 dbsnp25354 NP_898901.1 A424T 0 9025 6912 dbsnp25356 NP_001892.1 "E311G,K255N,M215I,S118N" "0,0,0,0" 1490 9489 dbsnp25358 NP_001189399.1 "I218L,S157N,S280L" "0,0,0" 100529239 11088 dbsnp2536 NP_006319.1 "A350T,A493G,A493V,G378R,S194T,S317C,T455S,Y548C" "0,0,0,0,0,0,0,0" 10432 4390 dbsnp25361 NP_689623.2 "I260T,M17T,P232T,Q238R,R273C" "0,0,0,0,0" 135138 10967 dbsnp25362 NP_001001346.1 "A4G,G94E,G94R,S118T" "0,0,0,0" 49861 12563 dbsnp25372 NP_006344.1 "A33V,D88N,K64T,K71E" "0,0,0,0" 10473 14250 dbsnp25373 NP_005826.1 "E247G,G10D,L138P,Q371R,R178Q,S370L,V270L" "0,0,0,0,0,0,0" 10246 7847 dbsnp25374 NP_078794.1 "A29T,D145N,G25R,G89E,M214T,R137H,R147Q" "0,0,0,0,0,0,0" 79465 10037 dbsnp25375 NP_115716.1 "G106A,K118R,M107I" "0,0,0" 84300 14320 dbsnp25376 NP_036267.1 "G140R,R98Q,S229A,T200M" "0,0,0,0" 26240 9936 dbsnp2539 NP_775827.2 "D260A,D365H,G15R,H74Y,I239T,I263T,K236R,K366I,L383P,P398L,R294H,T331I,T49A,V232A,Y437C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220047 7693 dbsnp25392 NP_714922.1 "D232N,L65P,S134R,S213N,T298M" "0,0,0,0,0" 254228 10681 dbsnp25393 NP_060376.2 "G124R,K359E,T355S,T362A,V282A,V376I,Y67C" "0,0,0,0,0,0,0" 55003 8764 dbsnp25395 NP_689942.2 "A2V,A436T,E350G,G302D,I162V,S326R" "0,0,0,0,0,0" 221294 7495 dbsnp25396;dbsnp25397;dbsnp25398 NP_057032.2;NP_001136012.1;NP_001136013.1 "A7V,E27A,F108S,K137R,L302I,N19S,P379S,S380P,V65I" "0,0,0,0,0,0,0,0,0" 51000 8571 dbsnp25399 NP_877434.2 "E15G,G293V,P24L,T217I" "0,0,0,0" 255488 10809 dbsnp2540 NP_061182.3 "A195V,R307C" "0,0" 55531 10051 dbsnp25400 NP_620061.2 "A152V,A354T,E294K,H170L,R123C,S136C,V27I,V392D" "0,0,0,0,0,0,0,0" 5232 8228 dbsnp25401 NP_003438.1 "F286V,F326V,H450N,L105F,N347Y,R391W,R69H" "0,0,0,0,0,0,0" 7718 6927 dbsnp25409;dbsnp25410 NP_001035958.1;NP_065158.3 "A62V,Q21K,R91W,Y63H" "0,0,0,0" 57150 14707 dbsnp25423 NP_060605.1 "A20G,I104N,L4F,P141R,T41I,W27C" "0,0,0,0,0,0" 55168 13069 dbsnp25426 NP_061969.3 "G29A,Q589K,R556H" "0,0,0" 54676 5118 dbsnp25427 NP_005577.1 "D211N,P98L,R115Q,R128Q,S141R" "0,0,0,0,0" 4188 11998 dbsnp25431 NP_071421.1 "A433V,A45V,L324V,N450D,Q232H,S223L,S47L,V178I,V426M" "0,0,0,0,0,0,0,0,0" 64094 7459 dbsnp25436 NP_064520.2 "A421V,A495T,H288R,I490V,N598S,R253C,R253L,S456N,T387S,V614M" "0,0,0,0,0,0,0,0,0,0" 56897 4430 dbsnp25438 NP_005484.2 "D650N,M547T,R153G,V335M" "0,0,0,0" 10048 3797 dbsnp25439 NP_004964.2 "A403T,A542T,D518V,D744N,H1051R,H216Y,K487E,N405S,Q239P,R1223T,R387H,R492C,R753C,T741I,V1228M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3720 1295 dbsnp2544 NP_001005175.2 "I270T,M41I,S219F,S260F,Y170S,Y319C" "0,0,0,0,0,0" 390072 10296 dbsnp25443 NP_065874.1 "G452R,K236N,P22S,R311Q,R336W,R403C,R602Q" "0,0,0,0,0,0,0" 57583 5006 dbsnp25444 NP_003531.1 R20C 0 8361 14608 dbsnp25445 NP_003538.1 V3A 0 8369 14608 dbsnp25446 NP_694587.3 "A30V,G170S,G383D,G385V,M416L,P410L,Q162P,S252P,S348L,T35I" "0,0,0,0,0,0,0,0,0,0" 221656 5275 dbsnp25449 NP_001010844.1 "A106V,A84V,G213S,M1V,P40R,Q45E,R23Q,V193F" "0,0,0,0,0,0,0,0" 134728 11714 dbsnp25454 NP_001243646.1 "A3V,G642V,P614S,T518A" "0,0,0,0" 9892 2578 dbsnp25457 NP_722523.1 "A359S,K110E,M53I,N754S,Q88H,S303R,V804I,Y226C,Y397C" "0,0,0,0,0,0,0,0,0" 57231 2363 dbsnp25459 NP_115991.1 "A430T,C200Y,E324D,E464K,H17Y,H403Q,H442Q,L138I,N196S,P315S,Q493E,S336G,V198G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84694 5956 dbsnp2546 NP_001005210.1 "D211Y,H160Q,M108I,R260C" "0,0,0,0" 219527 9882 dbsnp25463 NP_001229757.1 "S100W,V318M,W225R,Y260C" "0,0,0,0" 60481 10257 dbsnp25466 NP_001012525.1 "A64V,R28L" "0,0" 387103 14781 dbsnp25469;dbsnp25470 NP_004856.1;NP_001240605.1 T72K 0 9519 13253 dbsnp25474 NP_612417.1 "I197T,N138D" "0,0" 112495 12687 dbsnp25475 NP_775786.2 "A448V,F519L,K336R,N118I,N118S,P215T,P540T,R393Q,S325C,V62M" "0,0,0,0,0,0,0,0,0,0" 154043 1966 dbsnp25486 NP_003537.1 "E54K,G103S" "0,0" 8368 14608 dbsnp25487 NP_002895.3 "D167N,N328S,R173C,R202W,R234G,S71P,V104I" "0,0,0,0,0,0,0" 7936 8987 dbsnp25488 NP_001182060.1 "N66D,N66H,R81K" "0,0,0" 100130890 14708 dbsnp2549 NP_001164291.2 "P9A,R117W" "0,0" 402778 12365 dbsnp25494;dbsnp25495 NP_001035527.1;NP_001035528.1 "G23E,I50V,P44L" "0,0,0" 50854 14855 dbsnp25496 NP_001028736.1 "F5C,R10K,Y63N" "0,0,0" 619208 14826 dbsnp25497 NP_065912.1 "G217R,L222M,S335L,T66N" "0,0,0,0" 57621 6420 dbsnp25498 NP_001020461.1 "F26S,V28I" "0,0" 340168 14459 dbsnp25500 NP_775945.1 "G265R,I387V,K356R,K485Q,M526L,P153S,R222H,T71A,V130I" "0,0,0,0,0,0,0,0,0" 285761 6006 dbsnp25501 NP_110437.2 "K140T,N169K,P358S,R403P,R403Q,R422C,R422H,R422S,T138N,T304I,V203I,V305A,W163C,Y251H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81567 7918 dbsnp25504 NP_113657.1 "K19Q,P99L" "0,0" 83699 12142 dbsnp25505 NP_009174.1 "F159L,H232D,K249N,L150I,R114W,R240C,R255Q" "0,0,0,0,0,0,0" 11270 11660 dbsnp25508 NP_001028252.1 "D285G,D285V,F176L,P98S,R43Q,S130F,T220A,Y184C" "0,0,0,0,0,0,0,0" 9287 9642 dbsnp25510 NP_001177695.1 "G235R,G57S,I157M,R42W,T137M" "0,0,0,0,0" 401236 11358 dbsnp25511 NP_001008739.1 M1I 0 441150 14638 dbsnp25513 NP_001073919.1 "A102V,D281N,D402E,F6V,N110S,R561C,R668T,T207M,V152L,V47I" "0,0,0,0,0,0,0,0,0,0" 57673 3047 dbsnp25515 NP_872309.2 E187D 0 134637 13160 dbsnp25520 NP_001025029.2 "P376H,R371H,R406H,V302I" "0,0,0,0" 222553 8432 dbsnp25521;dbsnp25522 NP_057188.2;NP_001007465.1 "D124E,D140A,E34K,Q21H" "0,0,0,0" 51389 12069 dbsnp25525 NP_660159.1 "H369R,P218L,R103G" "0,0,0" 154091 4953 dbsnp25526 NP_072045.1 Q97L 0 6222 13895 dbsnp25532 NP_001012992.1 "E260K,G268C,R277Q,V116M" "0,0,0,0" 221424 10516 dbsnp25533 NP_001695.1 "A1086T,A429E,A891S,D77N,H169R,I870T,P381L,P510T,Q402L,Q411R,R904K,R907C,S45G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 577 800 dbsnp25534 NP_037507.1 "A173V,K87E,L65F,R204C,S67R" "0,0,0,0,0" 29777 11448 dbsnp25535 NP_942590.1 "E3K,H65Y,P335A,R72G,T188I,T333I,V295A" "0,0,0,0,0,0,0" 348995 8988 dbsnp25539 NP_004815.3 "D542N,E170K,H53Q,S138T,V341I" "0,0,0,0,0" 9425 5160 dbsnp25542;dbsnp25543 NP_009093.1;NP_001161299.1 "P48L,Q40H,S401N,V130M" "0,0,0,0" 7942 7095 dbsnp25544 NP_001129120.1 "D816V,E64G,H562Y,H66R,I571V,N162S,N834K,P1290R,P563R,R849H,T145M,T97A,V493I,W950R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5796 903 dbsnp25546 NP_067076.2 "A11G,E313G,H232D,L194S,N320S,S174F,V351F" "0,0,0,0,0,0,0" 56658 6354 dbsnp25551 NP_786923.1 "A63V,S267P" "0,0" 167826 11449 dbsnp25552 NP_001135873.1 "A111T,N65S,R179Q,S44L,V20L" "0,0,0,0,0" 8763 13045 dbsnp25556;dbsnp25557 NP_619790.1;NP_066407.1 T20I 0 3017 14189 dbsnp25558 NP_001186408.1 "H139R,H305R,I292L,Q34R,R352Q,R400W,R401H,V261L" "0,0,0,0,0,0,0,0" 7746 7685 dbsnp25561 NP_001025231.1 "A50P,G112D,K131N,P149S,P167L,R118C,R173H,R54G" "0,0,0,0,0,0,0,0" 389432 13501 dbsnp25562 NP_003773.1 "A161S,E208K,E82A,G125R,S359C" "0,0,0,0,0" 8705 9029 dbsnp25563 NP_001443.1 "A88T,V435L" "0,0" 2295 7700 dbsnp25565 NP_660359.2 "M138T,P213Q,S79N" "0,0,0" 221468 12352 dbsnp25566 XP_003403565.1 "D14Y,K94R,M115T,R106Q,Y67C" "0,0,0,0,0" - 13635 dbsnp25571 NP_001182215.1 "M146I,P88A,R8Q,S149N,T383I" "0,0,0,0,0" 3662 7585 dbsnp25573 NP_659465.2 "A112D,A27T,E303K,H259P,K180I,M218V,Q357R,R284W,R98W,V237I" "0,0,0,0,0,0,0,0,0,0" 221481 9267 dbsnp25574 NP_001012458.1 "E159V,H351L,N261S,R112H,R380Q,S308C" "0,0,0,0,0,0" 222696 8825 dbsnp25577 NP_079324.2 "P210S,S209L" "0,0" 266977 2560 dbsnp25578 NP_073595.2 "R154Q,S173I,S208R" "0,0,0" 64771 10921 dbsnp25581 NP_001243743.1 "D508N,H11Q,I270M,P26S,R130H,T392A,V657I,V765I" "0,0,0,0,0,0,0,0" - 2488 dbsnp25582 NP_056164.1 "I228V,K1012R,L986S,M873R,N203S,P999S,R841P,R841Q,R924Q,S687L,T507S,V361M" "0,0,0,0,0,0,0,0,0,0,0,0" 23506 1787 dbsnp25585 NP_060792.1 "P21T,R12Q,R173L,Y132C" "0,0,0,0" 55776 13321 dbsnp25586 NP_001229669.1 "A19T,A95V,H97R,Q2R,R88Q" "0,0,0,0,0" 100507462 14557 dbsnp25587 NP_057339.1 "A224T,A224V,A252V,D293N,G234R,I263V,I288T,I292M,M298L,P244L,R220K,R228G,R353Q,V268I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51439 8321 dbsnp25588 NP_001005226.1 "F178V,F40L,I33V,T38S,Y35H,Y73H" "0,0,0,0,0,0" 442184 9497 dbsnp25589 NP_001035304.1 C8G 0 154215 12782 dbsnp2559 NP_001413.1 "A137V,D73E,F36V,G105V,T55S" "0,0,0,0,0" 2001 11587 dbsnp25591 NP_079493.1 "A123T,I237L,P45S,R106C,R27G,S217L,T114I,T160M,T38I,V74I" "0,0,0,0,0,0,0,0,0,0" 80328 10037 dbsnp25592 NP_061818.1 K295R 0 27115 6963 dbsnp25595 NP_066983.1 "C248S,I485V,M1V,M331V,N249D,P26L,R125Q,R136W,R184H,R184L,V461L" "0,0,0,0,0,0,0,0,0,0,0" 7920 5727 dbsnp25596 NP_005275.1 "A214S,A232T,V195A,W253C" "0,0,0,0" 2830 9375 dbsnp25597 NP_001137413.1 V79I 0 221662 12145 dbsnp255;hgmd0613_1899 NP_061176.3 "A210S,A517V,A70G,D702N,D707E,F841L,G434S,G729R,H908N,K148T,K421R,M241L,M241V,M283V,Q611R,R163Q,R455Q,V325I,V360A,V897I" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 55526 2504 dbsnp25605 NP_997292.2 "G52S,R81W" "0,0" 389383 14654 dbsnp25607;dbsnp25608;hgmd0613_1454 NP_006070.2;NP_001161860.1 "H160L,P202T" "0,0" 10370 11499 dbsnp25609 NP_061031.2 "D52N,E638A,G633R,L128M,R113S" "0,0,0,0,0" 25862 3952 dbsnp25611 NP_056297.1 "F242L,G671S,P460L,Q329R,S154G" "0,0,0,0,0" 63027 4211 dbsnp25618 NP_060611.2 "A9S,F7L,F7V,I106V,P187S,S193P,T64P,V52D" "0,0,0,0,0,0,0,0" 55173 12952 dbsnp2562 NP_060692.2 "E111K,G333E,M374L,P52H,R268W,V235I" "0,0,0,0,0,0" 55742 8345 dbsnp25621 NP_008925.1 "A296T,A489T,E153A,E324K,E471D,G421V,I237V,L312F,L502S,N451S,P427T,R101W,R443W,R579C,S473L,V362A,W380C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10384 5358 dbsnp25623 NP_001013754.3 "D327G,E741K,H587N,I592T,I719T,K819E,P440A,R259H,T740A,V114G,V159M,V242M,V642L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 442213 2924 dbsnp25626 NP_001032588.1 F69L 0 245928 14884 dbsnp25627 NP_065132.1 "E35Q,G53E,K278R,L123V,Q125R,R392H,V332I,V381I" "0,0,0,0,0,0,0,0" 57120 7373 dbsnp25629 NP_001161870.1 "N7H,T45A" "0,0" 10559 9981 dbsnp25631 NP_002621.1 "G253D,G341V" "0,0" 5225 8842 dbsnp25651 NP_001032587.1 "C61R,P108L,T90M" "0,0,0" 245915 14511 dbsnp25654 NP_612418.2 "G31E,P97S,R125C,R125H" "0,0,0,0" 112609 12872 dbsnp25655 NP_060242.2 "A172T,L413M,M467L,P177A,P50S,S119L,T184N" "0,0,0,0,0,0,0" 55633 6375 dbsnp25656 NP_003518.2 "D3E,G14S,I90T" "0,0,0" 8348 14189 dbsnp25657;dbsnp25658 NP_001238902.1;NP_001238903.1 "E4D,G9R,S5T" "0,0,0" 10231 11878 dbsnp25659 NP_001132916.1 "A5T,E114G,G179R,R54W,R7Q" "0,0,0,0,0" 100128327 13348 dbsnp25660 NP_064518.1 "A4V,A81T,K153Q,T181M,V20I,Y320C" "0,0,0,0,0,0" 56895 9030 dbsnp25661 NP_624311.1 "D147E,D253G,I66V,R443H,S376L" "0,0,0,0,0" 85313 6817 dbsnp25662 NP_066402.2 "A5V,I62V,R93K,T20I" "0,0,0,0" 8970 14189 dbsnp25663 NP_001025034.1 "E140K,E146Q,E146V,I65V,V139I" "0,0,0,0,0" 387263 13161 dbsnp25665 NP_001229698.1 T261M 0 25902 2192 dbsnp25666 NP_001028231.1 Q113E 0 - 10033 dbsnp25669;dbsnp25670 NP_001159864.1;NP_006661.1 "A118V,A324E,A324T,P185S,R410G,T87A" "0,0,0,0,0,0" 7162 8164 dbsnp2567 NP_001004702.1 "A203V,A20E,A213G,A261V,C152R,C259G,C259R,C259S,D146H,D29E,E211G,F38V,G15R,G266R,H285L,I244T,I311T,L11F,M168I,N157S,N157Y,N197S,P192L,P19S,P291S,P78T,Q32H,Q49H,R147H,S100F,T17S,T264N,T289I,V142L,V172M,V272F,V284M,Y98C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256144 9203 dbsnp25674 NP_061861.1 "R15G,V129L" "0,0" 54438 8811 dbsnp25676 NP_001186391.1 "D309H,E193G,N238S,P55L,S114C,V62D" "0,0,0,0,0,0" 5134 9823 dbsnp2568 NP_001181926.1 "A241S,A555T,A699T,G342S,K397N,L285F,N401S,N629K,P657L,Q695R,R199Q,R393H,R95W,R96H,S283C,T134M,T258R,V557I,W566R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 833 3029 dbsnp25681 NP_001004317.1 H199R 0 389421 11926 dbsnp25685 NP_775787.1 "A336T,C502S,E156A,I514L,K473R,M259T,N117H,R469Q,V395M" "0,0,0,0,0,0,0,0,0" 154197 6319 dbsnp25686 NP_036551.3 "K87E,N125H,P73S,R103Q" "0,0,0,0" 26575 8845 dbsnp25690;dbsnp25691 NP_001172110.1;NP_055075.1 S28L 0 10471 14270 dbsnp25692 NP_057251.2 "H195R,L94M,P115S,P201Q" "0,0,0,0" 51406 11775 dbsnp25693 NP_579866.2 "H441Y,P356H,R470H" "0,0,0" 55274 6705 dbsnp25695;dbsnp25696;dbsnp25697;dbsnp25698 NP_001020107.1;NP_003922.1;NP_001020106.1;NP_001020105.1 "A462V,G230S,I119V,N57S,P349S,T461I" "0,0,0,0,0,0" 8936 5712 dbsnp25699 NP_056975.1 "A7S,L315V,M246I,T268A" "0,0,0,0" 51362 5436 dbsnp25700 NP_003525.1 "A128G,L101W,V72M" "0,0,0" 8355 14150 dbsnp25702 NP_116119.2 "D229Y,E2A,G112E,G258R,G321A,P44T,V365A" "0,0,0,0,0,0,0" 84816 8673 dbsnp25712 NP_001243739.1 "D340N,I102M,T224A,V489I,V597I" "0,0,0,0,0" - 2488 dbsnp25713 NP_612139.1 "L59P,Q39K" "0,0" 534 14837 dbsnp25716 NP_006236.1 "P520S,P530S" "0,0" 5528 5119 dbsnp25719 NP_588608.1 "F145L,T107A,V153L" "0,0,0" 85315 9574 dbsnp25720;dbsnp25721 NP_116259.2;NP_056306.1 "H97R,R548Q,R622C,R686C,R686G,R686H,R686P,R686S,S401N,S748N,S762P,V589A" "0,0,0,0,0,0,0,0,0,0,0,0" 25957 3177 dbsnp25722 NP_003501.1 "A48E,A54V,A71T" "0,0,0" 8330 9171 dbsnp25726 NP_055443.1 "Q66R,R227Q,R237W" "0,0,0" 9587 10744 dbsnp25728;dbsnp25729;dbsnp25730;dbsnp25731 NP_001229728.1;NP_001229727.1;NP_001229726.1;NP_078915.2 "A122V,G329V,I374V,Y353C" "0,0,0,0" 79692 8553 dbsnp25734 NP_001007.2 "T16I,T24I,V14I" "0,0,0" 6206 14225 dbsnp25738 NP_940888.2 "K43N,R64C,W60L" "0,0,0" 285855 11999 dbsnp25739 NP_004273.1 "A131V,N211S" "0,0" 9532 12731 dbsnp2574 NP_005960.1 E341K 0 4676 8779 dbsnp25740 NP_003535.1 "E64K,M1T" "0,0" 8366 14608 dbsnp25741 NP_006501.1 "H278P,N216S,R370K,S5N" "0,0,0,0" 5987 6434 dbsnp25742 NP_004233.1 A48P 0 9324 14250 dbsnp25746;dbsnp25748 NP_057571.1;NP_001135940.1 "H111Q,T127S,V82I,Y132C" "0,0,0,0" 51250 12022 dbsnp25750 NP_057301.1 "L294F,R213G,T339A" "0,0,0" 51696 5957 dbsnp25753 NP_003527.1 D107V 0 8357 14150 dbsnp25754 NP_055865.1 "K725Q,R144Q,T10I" "0,0,0" 23070 3007 dbsnp2576 NP_997313.2 "D59G,R68P" "0,0" 399949 13061 dbsnp25761 NP_001240700.1 "G375E,P288S,P8L,Y315F" "0,0,0,0" 10492 4738 dbsnp25763 NP_003098.1 "F401L,L28V" "0,0" 6659 7137 dbsnp25764;dbsnp25765 NP_001153198.1;NP_001010873.1 "A132V,Q4H,R24H,V85L,Y83C" "0,0,0,0,0" 222642 13552 dbsnp25766;dbsnp25768;dbsnp25769 NP_004108.1;NP_001139248.1;NP_001139247.1 "I36T,K8N,Q383L,R154Q,R211Q,T17A" "0,0,0,0,0,0" 2289 11532 dbsnp25771 NP_004266.2 "A50S,A50T,R212C" "0,0,0" 9477 12706 dbsnp25774 NP_057346.1 "C65R,C65S,F128L,H251Y,I261T,L239R,P407S,V387I" "0,0,0,0,0,0,0,0" 51175 7121 dbsnp25775 NP_116173.2 "M16V,V37I" "0,0" 84870 11450 dbsnp25778 NP_006510.1 S92N 0 6993 14462 dbsnp2578 NP_006810.1 "D249N,Q516H" "0,0" 10963 5952 dbsnp25781 NP_003536.1 "I67T,M85K" "0,0" 8367 14608 dbsnp25782;dbsnp25784 NP_006229.1;NP_001165289.1 "E333G,R47W,S428L,T376S" "0,0,0,0" 5467 6556 dbsnp25786 NP_872586.1 "E67G,M136R,P128A,R139C" "0,0,0,0" 245806 10489 dbsnp25788 NP_733759.1 "G8S,T23I" "0,0" 255626 14189 dbsnp25789;dbsnp25790;dbsnp25791 NP_861459.1;NP_115860.1;NP_861460.1 L52V 0 5570 14838 dbsnp2579 NP_001007233.1 "C69R,E28A,I42T,M51T,T86M" "0,0,0,0,0" 440068 8500 dbsnp25793 NP_003524.1 Y100N 0 8354 14150 dbsnp25794 NP_003560.2 "A180V,D157Y,D191G,V153L" "0,0,0,0" 8417 11352 dbsnp25795 NP_036420.1 "L218V,T85A" "0,0" 9697 9126 dbsnp25797 NP_001230237.1 A114V 0 89758 14406 dbsnp25800 NP_003529.1 R79P 0 8359 14608 dbsnp25801 NP_003520.1 "F68S,P67L,S87G" "0,0,0" 8350 14150 dbsnp25803 NP_003505.1 "A127T,V44G" "0,0" 8336 9171 dbsnp25804 NP_001230023.1 I229T 0 3298 6046 dbsnp25807 NP_001181961.1 "G67S,T114M" "0,0" 100130967 14339 dbsnp25809 NP_002181.1 "E91K,R134Q,R29Q" "0,0,0" 3605 13823 dbsnp2581 NP_056245.2 "A322T,D551V,D623E,E670D,H246Q,K109N,K58R,L169V,L275R,Q163R,Q356E,Q559R,R190C,R455Q,R478C,V216I,V641M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25891 3731 dbsnp25810 NP_001002030.1 "G198R,R68K,V261L" "0,0,0" 55862 10727 dbsnp25813 NP_068762.1 T140M 0 60685 12402 dbsnp25816 NP_219479.2 "A50S,L156F" "0,0" 112611 11063 dbsnp25818 NP_003516.1 "P11A,P4T" "0,0" 8346 14189 dbsnp25819 NP_057672.1 G7S 0 51299 14066 dbsnp25823 NP_612502.1 "E19K,R75Q,V91A" "0,0,0" 154467 14709 dbsnp25824 NP_001012279.1 "G241S,Q345E,T375I" "0,0,0" 387104 2359 dbsnp25825 NP_001229759.1 C249Y 0 60481 10257 dbsnp25826 NP_001491.1 "E267K,V363L" "0,0" 2762 9177 dbsnp2583 NP_001243326.1 "A73T,G255E,G428D,G71R,H323R,H366R,I493M,I53N,I53T,M256V,R15G,R298W,S290N,T4S,Y215C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83875 5431 dbsnp25831 NP_001229558.1 "H88R,R15G" "0,0" 54438 8811 dbsnp25832 NP_003523.1 M121V 0 8353 14150 dbsnp25833 NP_001229752.1 "R844H,R916Q" "0,0" 100293534 594 dbsnp25834 NP_002922.2 "A195T,K89E" "0,0" 6015 8481 dbsnp25835 NP_036479.1 "H19P,K412R,T349N" "0,0,0" 26268 7650 dbsnp25837 NP_859528.1 K27R 0 221391 9575 dbsnp25838 NP_001165889.1 R40W 0 114781 5007 dbsnp25842 NP_060534.1 C109R 0 55122 12908 dbsnp25843 NP_003530.1 R79L 0 8360 14608 dbsnp25846 NP_001137430.1 I53V 0 55754 9405 dbsnp25849 NP_068778.1 R95C 0 6992 14321 dbsnp25851 NP_542160.1 A22V 0 85236 14189 dbsnp25852 NP_001127965.1 "E16K,R60G,S63R" "0,0,0" 100188893 14862 dbsnp25853 NP_060922.2 "I120V,P72L" "0,0" 729515 14076 dbsnp25854 NP_003502.1 S20F 0 8332 9171 dbsnp25856 NP_001182131.1 "E2K,I65M" "0,0" 100129636 14141 dbsnp25858 NP_066390.1 K14N 0 3012 9171 dbsnp25859 NP_039268.1 "H205Q,R224C" "0,0" 23564 11192 dbsnp25860 NP_003526.1 A26V 0 8356 14150 dbsnp25861 NP_001131032.1 G399A 0 441151 5612 dbsnp25862 NP_612639.2 G264R 0 129685 10661 dbsnp25864 NP_112577.1 V33G 0 83443 14796 dbsnp25865 NP_001139131.1 "I339M,L398V,N674I,S702R,T533M" "0,0,0,0,0" 643854 3150 dbsnp25870 NP_001157934.1 "A1055E,A1235T,A123V,A1365S,A1534T,A1859T,A2138E,A2318T,A2397T,A2612E,A2792T,A3091T,A3216S,A3416T,A350T,A360T,A3695E,A3875T,A4174T,A4499T,A454V,A4729T,A4950E,A4950V,A646E,D1858E,D286H,D3415E,D4498E,E1185K,E1848D,E3405D,E4488D,F1479L,F3036L,F4119L,F4714L,G1593S,G1621R,G32S,G4678R,H1064P,H1826Y,H2147P,H2621P,H271Q,H3704P,H4659Y,H4687P,I5252F,K1547I,K300E,K3104I,K4187I,K641N,L452S,L4734V,M1699I,M606T,N4290H,P1117T,P1136R,P1332R,P1520T,P153R,P172S,P1811A,P1838T,P2430T,P275S,P3077T,P332T,P3395T,P345S,P3513T,P374T,P4160T,P4478T,P4644A,P469H,P4718S,P4748S,P5130S,P657L,P669T,P873T,Q279H,R1077C,R1077H,R171Q,R1737H,R2160C,R2160H,R235C,R2634C,R2634H,R348C,R348H,R3717C,R3717H,R425C,R4679H,R5081W,R583G,R583S,S1006P,S158N,S1778L,S1787R,S196F,S266A,S266C,S267G,S307G,S3413N,S4440F,S456P,S4574L,S4611L,S4620R,S4711C,S4745C,S4784T,S4817C,S4827C,S4878P,S498G,S511R,S564F,S664T,S910Y,T1066K,T1723I,T1871N,T2093P,T211S,T2149K,T242A,T2623K,T2911K,T3244I,T3428N,T3456M,T3650P,T3706K,T3994K,T4327I,T4511I,T4511N,T4584P,T4675I,T4731R,T4758R,T4795S,T612S,T768I,T788N,T814I,V1160I,V17I,V2043L,V20L,V355I,V4212I,V5019A,V847I,V960L,Y5307H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10071 18 dbsnp25874 NP_149015.2 "A20T,A2804T,A825T,D1121G,D287G,D3197E,D3432N,D4308E,E1223D,E1287D,F2220L,F3005L,K1929Q,K3411Q,L2294P,L4095V,M5056L,P218L,P229L,P315A,P372A,P892S,Q1899K,Q1899P,Q375H,Q5061H,Q692L,R1123H,R2056K,R2330Q,R2391C,R3677H,R4086C,R4235S,S1489C,S2267F,S4100T,S4814A,S501P,S814T,T2671P,T3575S,V2475I,V2771I,V3204D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27445 27 dbsnp25877 NP_112246.2 R458C 0 6916 5417 dbsnp25878 NP_001159725.1 "K181T,L152V,P182S" "0,0,0" 6916 5417 dbsnp2588 NP_001070150.1 "A605V,D619A" "0,0" 4684 2697 dbsnp25885;dbsnp25887;dbsnp25889 NP_945187.1;NP_945190.1;NP_945192.1 "F95L,K155I,L169M,L29F,P21L,R174H,T111I" "0,0,0,0,0,0,0" 4521 13028 dbsnp2589 NP_001229536.1 "A108T,A625V,D260N,E351K,E705D,G377E,R177Q,R823K,T860M,W368C" "0,0,0,0,0,0,0,0,0,0" 4684 2697 dbsnp25896 NP_001158885.1 "A104V,A15T,D189N,G202D,H25P,N217S,R194H,T192I,T240N,V17I,Y228C" "0,0,0,0,0,0,0,0,0,0,0" - 8536 dbsnp25905 NP_001244119.1 "A422T,A593T,A706T,A723T,A737V,A781P,A979V,F799S,G688R,G783S,G818R,H762Q,L985P,P183L,P478L,P699L,P738L,P747A,P995S,R987Q,S49N,S822L,T486S,T769M,T929P,V752I,V8L,V900M,V927L,Y756H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9883 1284 dbsnp25910 NP_001170977.1 "A11V,A166T,A266G,C329R,D28N,G517R,I371T,L522F,N551H,P243L,P254R,P33S,P684L,R431K,R645C,S153Y,S377N,T61M,T671N,V192I,V366I,W641R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 313 4188 dbsnp25911 NP_001073121.1 "P665L,P673L,R674C,T662M" "0,0,0,0" 221935 337 dbsnp25913 NP_937855.1 "A67G,G99E,R85H" "0,0,0" 858 13676 dbsnp25919 NP_001231513.1 "D427E,E353D,K40R,K434Q,S8A" "0,0,0,0,0" 100996928 7448 dbsnp25920 NP_057170.1 "A205P,A205T,A256T,E266K,K180E,P311A,R37C,V53M,V75M,Y30C,Y42C" "0,0,0,0,0,0,0,0,0,0,0" 51657 10597 dbsnp25927 NP_001032242.1 "A694P,A694T,I573V,P571A,S459T" "0,0,0,0,0" 221937 3761 dbsnp25936 NP_001073998.2 "A460V,G369S,P400L,Q287L,R60H,S478P" "0,0,0,0,0,0" 644150 6943 dbsnp25939 NP_775082.1 R2612Q 0 7455 173 dbsnp25950 NP_001177987.1 "A4V,A599P,A620E,A733T,G698S,H679Y,I754M,L88F,M610T,R43S,R695C,R695H,R720H,S565G,S652A,S730R,T571M,T632S,V636L,W54R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5137 3454 dbsnp25956 NP_001240704.1 L233R 0 64764 6298 dbsnp25960 NP_443165.1 "A195T,E213D,G12S,K232Q,K8N,L49R,R197K,R24C,R24G" "0,0,0,0,0,0,0,0,0" 114960 11387 dbsnp25961 NP_060765.3 "G130S,G89R,I166T,P147L,Q99K,R77W" "0,0,0,0,0,0" 55281 13265 dbsnp25965 NP_001138826.1 "C446G,D473H,K653Q,L129F,L351I,L405F,N243I,P300H,Q20P,R10W" "0,0,0,0,0,0,0,0,0,0" 4289 3746 dbsnp25967 NP_997056.1 "G369D,Q348K,R347H,T366I" "0,0,0,0" 387129 9060 dbsnp25971 NP_001092885.1 "A135T,G134D,G956R,K391N,L336S,P302T,P960L,P971L,P97L,Q923L,R985C,S294L,T137A,T723A,T742A,T761S,V8L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100101267 1284 dbsnp25974 NP_001093328.1 P51L 0 79020 7033 dbsnp25984 NP_115923.2 "A389T,D661E,E533Q,G240S,G696S,P413L,P762S,P775L,R585W,R756K,R876T,S197A,T144A,V733I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84626 1981 dbsnp25986 NP_789787.4 "H80R,K139R,N190S,R235H,R274C,R274H,R64Q,R6H,T217P,T3S,V36I,W135G" "0,0,0,0,0,0,0,0,0,0,0,0" 5726 10070 dbsnp25989 NP_742053.1 T859M 0 3757 1429 dbsnp25994 NP_001099013.1 "M458V,T471M" "0,0" 91584 6269 dbsnp25995 XP_003118648.1 "A192T,V352M" "0,0" - 3185 dbsnp25996;dbsnp25997 XP_003118647.1;XP_003118646.1 "A120T,V280M" "0,0" - 3185 dbsnp26001 NP_150093.1 Y254S 0 5814 10358 dbsnp26005 NP_001092905.2 "A124T,F82L,P95L,R335H,S264Y" "0,0,0,0,0" 442590 5864 dbsnp2601 NP_689643.2 "A26S,I176V,K299R,P273L,R134H,R196Q,S11N,T13I,V276I" "0,0,0,0,0,0,0,0,0" 143503 10293 dbsnp26013 NP_066189.3 "G156C,P16A,R488C" "0,0,0" 10603 4321 dbsnp26017 NP_001120832.1 "R323K,R346H" "0,0" 57157 3505 dbsnp26021 NP_001159632.1 "A1226T,A1287D,D368N,D400N,D627N,E42V,E449K,E508Q,F1187C,G827A,M1125T,M331V,N1289K,P1073A,Q1374H,R1039Q,R1065Q,R1259Q,R158C,R917C,R917H,S1079N,S1098N,S39T,T1364M,T268S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55607 1028 dbsnp26023 NP_071433.3 "C156R,E170D,S56R" "0,0,0" 64111 13056 dbsnp26024 NP_543147.2 "E139K,P387T,R222G,R357C,R363W,R438C,R84C,T389I,V295M" "0,0,0,0,0,0,0,0,0" 136371 7262 dbsnp26028 NP_001158209.1 "A463S,E491K,G5R,I178V,P104L,R144L,R144Q,R355Q,R450H,S17P,S209N,V317M,V61I,W202C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 799 6520 dbsnp26050 NP_872634.1 Q10P 0 6733 4088 dbsnp26052 NP_001186766.1 L4S 0 29887 12944 dbsnp26057 NP_001136408.1 "R151Q,R151W" "0,0" 221955 4350 dbsnp26058 NP_005683.2 "K224M,L599M,N560S,N622D,P632L,R619S" "0,0,0,0,0,0" 10061 4757 dbsnp26066 NP_001093860.1 "A530V,A536G,H85N,L650V,P670L,R301H,R367L,R367Q,R495C,R55Q,R571H,R619K,S218R,T580A,T674M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 4119 dbsnp26071 NP_683711.1 "H268Y,V174M,V34A" "0,0,0" 83451 10543 dbsnp26078 NP_945351.1 Q57H 0 375612 12216 dbsnp26094 NP_009119.2 "A687V,D222N,D561N,F330L,G710V,I10T,L124V,P102S,P14S,Q634R,R258Q,R276H,R304C,R356H,R452L,R569W,R631W,R639W,S178R,S39N,S560C,V135I,V144M,V489M,V542I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11194 3744 dbsnp26102 NP_001155306.2 "D135E,G371S,K252N,L159I,N333K,T288A,T358I" "0,0,0,0,0,0,0" 100130988 7811 dbsnp26113 XP_377941.5 "H374P,H412N,I405M,K408R" "0,0,0,0" - 7634 dbsnp26115 NP_056646.1 P592R 0 43 4954 dbsnp26118 NP_001153582.1 R613G 0 4846 1412 dbsnp26119 NP_000594.2 "A1188T,A422T,A423T,A531T,D287N,E1182K,E156K,F172L,P11T,Q126L,R255Q,R388W,R530Q,R899C,S944L,T854M,V7M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4846 1412 dbsnp2613 NP_001243476.1 R2K 0 55863 12321 dbsnp26130;hgmd0613_2378 NP_742054.1 R25Q 0 3757 1429 dbsnp26145 NP_003768.2 "A1229T,A1242V,A1762V,A2253E,A3474T,A3666V,A3754T,A4133G,A4322T,A568T,A859V,C227S,C2763R,C528Y,D141Y,D1640G,D2209N,D4073H,E1047K,E3133D,E3478K,E794K,F2766L,F3927L,F4273I,F910C,G3856V,G552V,H1234Q,H3598Y,I1334V,I166V,I1723V,I192M,I214V,I243V,I2933T,I3344V,I4222T,I4308V,K2017R,K3694E,K3741Q,K4136T,K4508R,K958N,L1157R,L2705S,L370M,L4181R,M1316V,M3899V,M4172V,M512K,N2334K,N2641S,N3968S,N4359Y,P1898S,P2013L,P2803A,P3808R,P4218L,Q1406R,Q2698R,Q4330H,Q639R,R1441W,R1841C,R20C,R20S,R2146K,R2542H,R2997H,R3004Q,R3587C,R3587H,R3895H,R4165Q,R4456H,R4476K,R4489K,R4502K,R963G,S1128I,S2438I,S2452L,S3765P,S3780N,S654C,T1038A,T1433A,T2055R,T2693A,T3152M,T3471I,T3684A,T400I,T4177I,T4399M,T522A,T522I,V1023A,V1392I,V2525A,V2525I,V3715L,V848M,Y2240C,Y2593H,Y3265C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 52 dbsnp26157 NP_000492.2 "A110T,A458E,A621T,G422S,G581R,G610S,G651R,G684D,G711D,K463R,P427A,V154M,V165L,V298I,V503M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2006 3309 dbsnp26165 NP_001157413.1 "A1047P,A1129T,A350T,A915T,A941D,D1187G,D370G,D999N,E1124K,E970K,F1023L,F155V,F784C,F924L,G1159S,G153D,G18A,G354E,G614R,G810V,I1093T,I217T,I369V,I956L,K560E,L1102I,M446T,N864K,N864S,Q262K,Q905H,R134Q,R458Q,R458W,R486Q,R885H,R885P,S233R,S811A,T131I,T207I,T765M,V1209A,V198A,V578M,Y122F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340273 1125 dbsnp26176 NP_001025006.1 S4T 0 83605 7312 dbsnp2618 NP_057488.1 "E120G,N60K" "0,0" 51504 14331 dbsnp26184 NP_001244927.1 "A743T,M1V,N499Y,N835S,T899M" "0,0,0,0,0" 55610 2259 dbsnp26188 NP_958441.1 "C686Y,L675V,S703F" "0,0,0" 1956 4039 dbsnp26190 NP_001078855.1 "H77Y,L10P,L56F,R116Q,T80R" "0,0,0,0,0" 58160 13372 dbsnp26191;hgmd0613_496 NP_000777.1 "A15V,D285Y,I274T,I74V,I88T,I88V,K341E,M164L,P437S,R371L,V19A" "0,0,0,0,0,0,0,0,0,0,0" 1595 6494 dbsnp26202;dbsnp26203 NP_003355.1;NP_853628.1 "A255V,R178W,S283G,T228M,T4M,Y235C,Y95N" "0,0,0,0,0,0,0" 7378 9123 dbsnp26216 NP_001243426.1 "E258G,F203L,G190A,I246V,L32V,L353M,L401P,R409T,S192N,T310K,T310M,V71A,W12L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 100861540 6065 dbsnp26220;hgmd0613_1492 NP_006339.3 "A22T,A54P,D772H,F330L,G48V,H114Y,H452R,H617Y,I152L,I182V,I365V,K666E,L131F,L295I,P377L,Q850P,R418H,R426H,R706C,S832P,Y447C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10466 2835 dbsnp26232 NP_036579.2 "A128G,A494T,E1132G,E295Q,E950K,G81V,L16F,L280M,L490F,M1199I,M461I,P1103L,P4L,Q1098H,R667C,R962W,S156P,S205G,S771L,S967C,T1050I,T36P,T384P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10734 1345 dbsnp26247 NP_001186601.1 "A90V,N116S,R12Q,T232I,V140M" "0,0,0,0,0" 813 10108 dbsnp26264 NP_001157414.1 "K115E,M1T,R13Q,R13W,R41Q" "0,0,0,0,0" 340273 1125 dbsnp26270 NP_001182209.1 "D208H,L118P,M248L,R156H,T23S,V32I" "0,0,0,0,0,0" 100506049 11168 dbsnp26272 NP_001230280.1 "K28N,R317H,R510H,R9C" "0,0,0,0" 51667 4711 dbsnp26279;hgmd0613_1205 NP_004447.2 "A596T,D185H,D208G,N322S" "0,0,0,0" 2146 3605 dbsnp26289 NP_065779.1 "C182S,D843N,E300K,F180S,F207V,G698S,G851S,I680T,M799I,P278L,R256Q,S584A,S584P,S584T,S610G,T752M,T841M,Y387C,Y387F,Y414C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57488 2489 dbsnp26295 NP_848658.3 "D599N,D738N,D9G,E122Q,F45Y,I790V,R196H,R326C,R574W,R70C,S44C,T344N,T360I,T552M,V742I,V755M,Y875C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340351 2107 dbsnp26298 NP_683759.1 "A100V,A457T,D148N,G158R,L318R,P183S,P328A,R117W,R164Q,R172Q,R273Q,R295C,R449K,R61C,S415G,S429I,S429T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55695 7213 dbsnp26299 NP_001161819.1 R455H 0 55695 7213 dbsnp26301 NP_001074007.2 "H139Y,L30I,L52P,T220M,T273A,T38A,V24I" "0,0,0,0,0,0,0" 441282 9824 dbsnp26302 NP_001138535.1 N17K 0 389523 10183 dbsnp26312 NP_001152994.1 "C373R,E259K,E420D,K124N,K303E,P451S,R119H,R141C,R141H,T251I" "0,0,0,0,0,0,0,0,0,0" 442319 1203 dbsnp26316 NP_001008749.2 "A92T,I23T,I82V,L127Q,R80H,V173M,V203I,Y152H,Y188H" "0,0,0,0,0,0,0,0,0" 401409 12602 dbsnp26317 NP_001003702.2 "E187Q,E443K,L421V,L452S,N400K,Q179R,T347I" "0,0,0,0,0,0,0" 445328 735 dbsnp26332 NP_004991.1 "E85G,G3C,H86R,I116L,M1L" "0,0,0,0,0" 4698 14460 dbsnp2634 NP_001191197.1 "F97L,G88S,R137K,V104I" "0,0,0,0" 100533181 14031 dbsnp26340 NP_114109.1 "A151V,G18E,G64V,M5V,S34N" "0,0,0,0,0" 64983 13222 dbsnp26346 NP_955381.2 "E195K,K189E,N210K,P186L,P230L,Y194C" "0,0,0,0,0,0" 375616 820 dbsnp26353 NP_001093165.1 "A154V,G106R,L71P,R149H,R149P,R34G,R34W" "0,0,0,0,0,0,0" 29803 4862 dbsnp26359 NP_056509.2 "A512T,P96A,R339H,R70W,V115A" "0,0,0,0,0" 27153 3031 dbsnp26368 NP_061888.1 "A189V,A401V,A486V,A570V,E310K,E349K,F384S,G136E,G295E,G47A,G661A,H126Y,P531L,P640L,R238H,R254H,R341L,R369C,R421C,R434Q,R460Q,R555W,T123M,T559M,V358I,V372L,V453A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54480 3406 dbsnp26369 NP_064529.4 "C619F,E151Q,I348V,K229R,K426R,K84R,N19K,N583S,P12L,P419S,Q579R,Q627H,S586L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56903 3739 dbsnp26392 NP_001177779.1 "H656Q,P575A,R712C,V548I" "0,0,0,0" 4850 3944 dbsnp26398 NP_073579.4 "D218H,G980R,K499E,R200H,R945Q,T251M,T806A,V432I" "0,0,0,0,0,0,0,0" 64753 1541 dbsnp26400 NP_001137407.1 "C606S,E146D,E320D,G178R,H235R,H257L,H257R,I399T,N589S,N72K,P311L,R122H,R55K,S300N,S501F,T446M,V25A,V488L,V502L,Y576C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54677 4701 dbsnp26402 XP_002342780.2 "C294Y,D149H,F211L,G322C,M295L,R22G,R328P,V173A" "0,0,0,0,0,0,0,0" - 5864 dbsnp26408 NP_001244897.1 "L16F,S1036P" "0,0" 223075 1849 dbsnp26412 NP_001152996.1 "A28E,G140R,G228D,H224N,L235H,M57I,N335D,N80K,S102G" "0,0,0,0,0,0,0,0,0" 730291 1203 dbsnp26431 XP_001725406.2 "A1283V,A1365T,A1398V,A1464V,A152T,A276T,A632G,A758V,A860S,A900S,A914G,C128W,D1428N,D52Y,E127V,E1312A,E601Q,F470S,F470Y,F672L,G55E,G588S,G661D,G661S,G705V,G892A,H1074P,H1462N,H1462Y,I29T,I304T,I308T,I695L,I720S,I736T,I794V,I984M,K563E,L606F,M1189I,M998T,N310D,N93S,P1086S,P1093L,P1199L,P141S,P258S,P288L,P337T,P33L,P33T,P635S,P676A,P95L,Q278R,Q31H,R1099C,R1103P,R1367H,R290S,R485H,R485P,R653Q,R685P,S1070G,S123L,S172R,S175P,S607T,S629A,S872Y,S906P,T1080S,T1105S,T1482N,T149M,T183M,T187I,T240M,T289I,T312N,T338A,T363A,T501I,T617S,T623S,T681S,T686I,T743A,T748M,T767M,T785K,T980S,T989A,V167G,V660L,V787M,V792F,Y612H,Y991H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 230 dbsnp26437 NP_079430.3 "A153V,E393K,G444V,H68Y,L212F,Q43P,T466M,V147M" "0,0,0,0,0,0,0,0" 23353 3127 dbsnp26441 NP_115548.1 "A25G,A851S,E1301G,H516Y,L1030P,L760R,P908L,R779P,S1170R,S856N,Y1050C" "0,0,0,0,0,0,0,0,0,0,0" 84132 1118 dbsnp26442 NP_001155000.1 "C740F,D657G,E109D,E29K,E5K,G671R,I351M,I376V,I719L,I725V,N426Y,S16N,S37A,S531P,S70F,T281I,Y165F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401387 2836 dbsnp26450 NP_055950.1 "A1970T,A94G,A978V,D40G,E1572K,E216Q,I1314T,L1144V,L38F,M373I,M373T,N1019S,P164S,P4L,Q1586H,Q1628R,Q1640E,Q63H,R1615H,R206K,S1771I,V1613L,V676M,Y1872C,Y798C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23165 420 dbsnp26451 NP_001095856.1 "A31T,L36M,L91I,N269S,R105Q" "0,0,0,0,0" 346562 9547 dbsnp26453 NP_001177413.1 L140R 0 1577 6065 dbsnp26455 NP_001008405.1 "F302L,G311V,H298R,I310L,R119H,R301W,V285I" "0,0,0,0,0,0,0" 55973 9723 dbsnp26467 NP_001103669.1 "A41G,D17N,H261P,H261Q,R630Q,R632H,S214C,S27A" "0,0,0,0,0,0,0,0" 222183 4563 dbsnp2647 NP_065920.2 "A538T,A579T,E235G,E244G,E347K,E667K,G63V,K601R,L167F,N89K,Q465P,R70W,S804P,T72M,W671C,Y224N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100506627 2663 dbsnp26471 NP_002794.1 "R258G,V123A" "0,0" 5701 7903 dbsnp26476 NP_001003799.1 "K17Q,S19N" "0,0" 445347 14530 dbsnp26479 NP_001157932.1 "A255T,A64T,E30K,H102R,I209V,I229T,I306T,I7V,K191R,K204E,L169F,M120V,Q48R,R185M,V141L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256227 9870 dbsnp26481 NP_061955.1 "A59T,E202K,I145V,K327R,L42V,N528H,N528S,Q394R,R189W,R258Q,R275H,R419Q,R506H,S296P,V319I,Y249C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54606 5889 dbsnp26495 NP_849151.2 "M125T,Q47R,Q75E,S83F,T135S,V124A,V91G,W21R" "0,0,0,0,0,0,0,0" 135927 13987 dbsnp26497 NP_001189412.1 S366R 0 1395 7695 dbsnp26499 NP_001189404.1 "A323T,A415D,C252G,E247D,K119N,K334R,M37I,Q36H,R141H,R212C,T329A,V267I,V438M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1395 7695 dbsnp26514;hgmd0613_479 NP_000713.2 "D1045A,E1007D,I159V,I178V,Q917H,R240K,S52R,S709N,S755T,T923S,V207G" "0,0,0,0,0,0,0,0,1,0,0" 781 1558 dbsnp26518 NP_001094062.1 "A191P,T204M" "0,0" 155066 12688 dbsnp2652 NP_001243165.1 "D127H,E261K,M118T,R136C,R295C,S120F,V239I,W49R" "0,0,0,0,0,0,0,0" 27315 9172 dbsnp26524 NP_001092871.1 S432R 0 8910 7374 dbsnp26527 NP_001185808.1 "A258T,A477T,A745T,A93V,D385Y,E269K,G587E,G743R,I517T,L67P,P405L,P461S,P483L,P484A,P64H,Q71R,R152C,R162L,R162W,R166W,R181Q,R217Q,R27G,R284W,R350W,S554F,T506M,V669G,Y654C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100526740 3622 dbsnp26531;dbsnp26532 NP_057304.1;NP_001013768.1 "C274G,C48Y,E213G,E40D,E583K,G604V,I180V,I461T,N401D,R539C,R96G,S481L,T120I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 51427 1203 dbsnp26535 NP_001152751.1 "C224G,E440A,F169I,K409Q,L149M,L149S,N173S,T312S,V163I,V277A,V59I" "0,0,0,0,0,0,0,0,0,0,0" 441234 1203 dbsnp26540;hgmd0613_1414 NP_005754.2 "E497K,E518D,E621K,G13R,I205L,I491M,K780T,K820R,N52S,N865S,P331L,P560S,S771L,S773T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10157 2462 dbsnp26541 NP_062618.2 "H71R,K48N,V166I,Y240H" "0,0,0,0" 56311 11833 dbsnp26542 NP_006515.2 "C202F,D89E,E279A,G93E,G97S,I211V,K161R,R155C,R219H,R26Q" "0,0,0,0,0,0,0,0,0,0" 7697 1203 dbsnp26543 NP_001099003.1 "D774N,R782H" "0,0" 79974 1995 dbsnp26545 NP_690852.1 "A495S,E60G,L156M,L279V,L87F,P593L,Q268L,Q268P,Q607H,S183F,V238I,V577M" "0,0,0,0,0,0,0,0,0,0,0,0" 222229 4622 dbsnp26547 NP_940869.2 "E165Q,E319D,G38V,I757V,L432V,P131H,T342I,V45I" "0,0,0,0,0,0,0,0" 222194 2925 dbsnp26549 NP_001189489.1 "M32I,N52H,P285A,R155Q" "0,0,0,0" 114049 10922 dbsnp2654;hgmd0613_2439 NP_872363.1 "A209S,G28S,G350S,G699S,H1358Q,L812F,M503I,M646V,M722T,P434T,P483L,P764S,Q198E,S1054L,S543G,S938C,S975L,V1441M,V633M,V902A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283149 828 dbsnp2655 NP_001029125.1 "A79V,P111H" "0,0" 796 14069 dbsnp26555 NP_037525.1 "E62G,F107L,G239R,N158S,R14C,R23C,R75Q,S11F" "0,0,0,0,0,0,0,0" 29960 12000 dbsnp26556;dbsnp26559;dbsnp26560 NP_056538.1;NP_001242936.1;NP_001242937.1 "C379G,D277V,E342G,G304S,I353V,M122I,N539D,P711T,R187C,R217P,T270A,T270I,V298I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 50640 3347 dbsnp26563 NP_001297.1 "I21T,I21V,P134L,R30S" "0,0,0,0" 1365 10807 dbsnp26566 NP_004537.1 "R19G,R52K" "0,0" 4708 14593 dbsnp26569 NP_055205.2 "A65V,G615S,K249R,K491R,N101S,P500R,P782R,Q67P,R148W,R776H,T98A" "0,0,0,0,0,0,0,0,0,0,0" 27044 2565 dbsnp2657 NP_073741.2 "A116T,A590T,A87V,D725E,D751N,F893L,G750R,L752V,P876L,Q704H,R432H,R600H,R79W,R818Q,R94P,S20N,V812M,V848I,Y394C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64852 2545 dbsnp26574 NP_001698.2 "A24T,T171I" "0,0" 9275 12928 dbsnp26586 NP_001120914.1 "E338D,G397R,H293D,L336S,L336W,M358K,M358R,M358T,N36S,P13S,P301L,P79S,R126Q,R254W,R44Q,R71C,R75K,S215N,T193N,V237I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93979 7840 dbsnp26588 NP_612454.1 "D221G,G11E,G317R,G37D,P62L,R135Q,R214C,S261L,V266M" "0,0,0,0,0,0,0,0,0" 115330 10082 dbsnp266 NP_001136244.1 "L1607V,P1605L,Q1656P,R1553H" "0,0,0,0" 65217 446 dbsnp26603 NP_065962.1 "A215T,A312V,A48T,A891T,D365V,D417N,E543Q,F40L,F40S,G787E,H1870Y,P1171S,R28W,R345W,S553L,T433A,V1043M,V424I,V505I,V930M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91584 6269 dbsnp26604 NP_861440.2 "A481E,A481V,E475A" "0,0,0" 91584 6269 dbsnp26613 NP_945194.1 "A226T,G145C,G200A,S57T,V56A" "0,0,0,0,0" 221833 6521 dbsnp26617 NP_001231001.1 "E102G,E12D,G240D,G241R,G241S,G328V,Q173R,Q307R,Q56H,R248Q,R264Q,R264W,S175L,T148A,V135I,V178G,V196M,V199L,V219F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 474344 9376 dbsnp26619 NP_001164376.1 "A209E,A24V,A405S,D93N,G403S,L28F,P87L,S329N,W296S" "0,0,0,0,0,0,0,0,0" 728927 1203 dbsnp26623 NP_001182172.1 "A30T,A30V,A39T" "0,0,0" 100287482 14896 dbsnp26628 NP_872295.1 "P38T,V312I,V76E" "0,0,0" 346673 10156 dbsnp26632 NP_001071089.1 "R174H,R212G" "0,0" 155382 11903 dbsnp26638 NP_001138392.1 "D310N,F128Y,G458S,I359V,P481S,R297C,R37G,S335L" "0,0,0,0,0,0,0,0" 79989 5778 dbsnp26640 NP_001124192.1 "E28D,K180R,P50H" "0,0,0" 23382 5017 dbsnp26642 NP_001186506.1 "C496G,G207R,I352V,L408P,M347V,R167H,R326H,R382Q,R64K,S89P,T27M,V151I,V256M,V457G,W73S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100527949 6460 dbsnp26643 NP_060854.2 "C292G,G3R,I148V,L204P,M143V,R122H,R178Q,V253G,V52M" "0,0,0,0,0,0,0,0,0" 55340 6460 dbsnp26650 NP_009201.2 "E320K,K114E,K114N,N119S,N544S,R189H,T293S,V314M,V553G,V85M,Y193C" "0,0,0,0,0,0,0,0,0,0,0" 11328 5379 dbsnp26652 NP_055319.1 "I133V,N300S,P309L" "0,0,0" 27342 4004 dbsnp26655 NP_036527.1 "C7F,R326Q,R434Q,S102N,S227C,S445R,S449N" "0,0,0,0,0,0,0" 5218 7217 dbsnp26656 NP_001135886.1 "E8G,I106T,S115G" "0,0,0" 27297 13964 dbsnp2665;dbsnp2666 NP_940841.1;NP_689646.2 "F268L,K24E,L183V,M193V,N480S,S436C,S536T,V50I" "0,0,0,0,0,0,0,0" 143879 5002 dbsnp26660 NP_115797.1 "A541V,A856T,D926E,D933H,E506K,E659D,E660Q,E822D,G924R,I989T,K1010R,P179S,Q565R,R12H,R733Q,R733W,R840Q,R851Q,R916Q,S518T,T386K,T783M,V191I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7461 1916 dbsnp26672 NP_005859.1 "K86E,R118T" "0,0" 10282 14433 dbsnp26682 NP_597714.2 "A413T,D163N,P240L" "0,0,0" 136227 7744 dbsnp26688 NP_705873.2 R121S 0 3198 10012 dbsnp26693;dbsnp26694 NP_055384.1;NP_659570.1 "C579W,D499G,E798Q,G629V,G755S,L186F,P336S,R492I,R793G,S465N,S660F,S6F,S813N,T85M,V497G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23660 2973 dbsnp26698 NP_001191800.1 "P86Q,T58A" "0,0" 100534592 2426 dbsnp26699 NP_848656.2 "C195S,D261G,E364A,E412K,N325S,T348S,V455L,Y399C" "0,0,0,0,0,0,0,0" 340307 3150 dbsnp26700 NP_542391.2 "C298R,M244I,Q205H,S256P" "0,0,0,0" 92092 10870 dbsnp26704 NP_003499.1 "D295A,I448V,K544T,S524N" "0,0,0,0" 8326 5262 dbsnp26708 NP_001171990.1 "G35E,H17N,P34L" "0,0,0" 358 11502 dbsnp2671 NP_056272.2 "D344N,D534G,G686S,P256A,P256Q,P256R,P256T,P346S,P45A,P528L,R392H,R607H,S274L,S634L,T108P,T385N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25921 3920 dbsnp26710;dbsnp26711 NP_001157930.1;NP_001157931.1 "E173A,F74Y,G199R,K101N,M164V,Q121R,R184C" "0,0,0,0,0,0,0" 653857 8209 dbsnp26712 NP_036426.3 "L235W,P313H,V466L,V730A,Y281C,Y706C,Y706F" "0,0,0,0,0,0,0" 9771 3786 dbsnp26713 NP_689962.1 "N106K,S116L" "0,0" 222255 2825 dbsnp26714 NP_065776.1 "A691E,A735V,A754T,A811T,K270N,N106K,S116L,S502L,S808R,T525N" "0,0,0,0,0,0,0,0,0,0" 222255 2825 dbsnp26727 NP_079239.3 "N552K,R231Q,R54H" "0,0,0" 80028 3175 dbsnp26731 NP_064571.1 "F53L,L12S,Q97P,T83I" "0,0,0,0" 57001 14340 dbsnp26736 NP_689624.2 "K432E,R407H" "0,0" 136051 3348 dbsnp26737;dbsnp26738 NP_115938.1;NP_001231535.1 R115C 0 83943 13467 dbsnp2674 NP_004570.2 "A120S,Q600R,R111P,R317Q,R580H,V682I" "0,0,0,0,0,0" 5871 3089 dbsnp26750;dbsnp26751 NP_001127812.1;NP_115678.1 "S55T,T13M" "0,0" 84262 14388 dbsnp26753;dbsnp26754;dbsnp26755 NP_115726.1;NP_001127867.1;NP_001127868.1 "A54P,A54S,C107Y,G181R,G51R,P178R,R187Q,S36C" "0,0,0,0,0,0,0,0" 84310 13115 dbsnp26763 NP_001182149.1 "A267T,N212S,R205Q,R218C,R407Q,S313T,T84I,V98M" "0,0,0,0,0,0,0,0" 100289678 5906 dbsnp26768 NP_064631.2 "A149T,A338T,A839T,G165S,G252D,I350T,L21P,N24S,R158W,R220L,R337H,R549W,S474N,V134I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56996 2535 dbsnp26777;dbsnp26778 NP_001127940.1;NP_872403.1 "L77M,S128F" "0,0" 286006 14234 dbsnp26780 NP_003369.2 "E107Q,E441D,L570S,P224L" "0,0,0,0" 7425 4978 dbsnp26795 NP_055947.1 "L472S,P237S,S662F,W278C" "0,0,0,0" 23161 2247 dbsnp26796 NP_002584.2 "A444P,A7D,C17W,G409D,M392L,M392V,P274Q,R275Q,R422Q,R443W,S217L,T327A" "0,0,0,0,0,0,0,0,0,0,0,0" 5118 7616 dbsnp268 NP_001136242.1 "R1470G,V1508M" "0,0" 65217 446 dbsnp2680 NP_001136007.1 "A251T,C83R,G11R,H200Y,H239N,I137N,I176V,L281P,M23T,R117H,R325Q,T51M,V181I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 85329 9970 dbsnp26808 NP_001123541.1 "D227N,G24W,L262P,R193Q,R211H,R56T,R74W,T184M" "0,0,0,0,0,0,0,0" 25870 9485 dbsnp26811 NP_001035934.2 V275I 0 25870 9485 dbsnp26814;dbsnp26815;dbsnp26816 NP_001129492.1;NP_071682.1;NP_004959.2 "C70F,D272N,G353R,G357R,G401S,V176M" "0,0,0,0,0,0" 3382 6957 dbsnp26817 NP_036413.1 "A157T,A249V,F11L,R511H,S472F,S473T" "0,0,0,0,0,0" 3751 4536 dbsnp26819 NP_064715.1 "A161V,D71N,E191A,E423K,F229L,K366E,L420F,M85T,T171A" "0,0,0,0,0,0,0,0,0" 57037 7757 dbsnp26830 NP_001186636.1 "E497K,I225M,L39F" "0,0,0" 23366 6320 dbsnp26835 NP_001182056.1 "A179T,G112S,P156L,P177L,R175S" "0,0,0,0,0" 100288524 12284 dbsnp26838 NP_001137151.1 "A117V,I274T,L108S,M1T,R175H,T217M" "0,0,0,0,0,0" 373156 11245 dbsnp26841 NP_001091091.1 S56I 0 654231 14534 dbsnp26842;hgmd0613_1257 NP_004713.2 "A360D,E111D,G247A,R271H,R367Q,T127M,T136M,V208M" "0,0,0,0,0,0,0,0" 9179 7540 dbsnp26843 NP_064541.1 "I261N,K127E,T37S,V35G" "0,0,0,0" 56913 9350 dbsnp26849 NP_001123947.1 "A233V,H216Y,I383V,P136L,P251R,S58G" "0,0,0,0,0,0" 168451 8698 dbsnp26854 NP_115496.2 "G178R,G310R,S3L,V153M" "0,0,0,0" 84060 9268 dbsnp26855 NP_001108198.2 L379H 0 401399 2620 dbsnp26856 NP_001167635.1 "A549S,P235S,P783L,Q335K,R134L,R134Q,R213H,S724T,T240I,V40I" "0,0,0,0,0,0,0,0,0,0" 401399 2620 dbsnp26857 NP_060464.1 "A230P,A230T,H143R" "0,0,0" 55069 10570 dbsnp26861 NP_660347.1 "C13R,M1I,R155H,T104M,T146I,V154L" "0,0,0,0,0,0" 202865 13428 dbsnp26863 NP_057349.2 "D86E,M236T,Q301E,T257I" "0,0,0,0" 7559 2356 dbsnp26865 NP_659802.1 "A547V,D171G,D338N,F438L,G213R,H35R,K539Q,L126V,M217V,Q362H,R118P,R52C,R535L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 221786 4517 dbsnp26868 NP_001078898.1 "L37S,S36T" "0,0" 155006 14568 dbsnp26869 NP_112223.1 "G669R,H452Q,L349F" "0,0,0" 81844 3572 dbsnp26870 NP_001207702.1 "N137D,R39P" "0,0" 10320 6491 dbsnp26876;dbsnp26877;dbsnp26878;dbsnp26879;dbsnp26880;dbsnp26881 NP_002726.1;NP_001158230.1;NP_001158232.1;NP_001158231.1;NP_001158233.1;NP_001158234.1 "H53L,I40F,I40V" "0,0,0" 5575 8948 dbsnp26882 NP_001002926.1 "E320K,I122L,M256V" "0,0,0" 221830 9958 dbsnp26884 NP_005426.2 "A26T,D175G,F1568L,G357R,P212S,P815A,Q1595K,Q481R,R1085C,R1191H,R1363G,R551H,S372I,T347I,W885R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7984 735 dbsnp26891 NP_002816.1 A151S 0 5764 13582 dbsnp26892 NP_878901.2 "G106S,Q471K,R121Q,R152H" "0,0,0,0" 9586 6522 dbsnp26896;dbsnp26897;dbsnp26898;dbsnp26899 NP_001229703.1;NP_001229704.1;NP_001229702.1;NP_699176.1 "D34Y,F48C,G133W,K32R,P188L,R136K,R143Q,R82Q,S155N" "0,0,0,0,0,0,0,0,0" 135932 12621 dbsnp269 NP_001136241.1 "E1618A,E1649D,E1718K,G1496D,S1732L,S1749N,T1644S,V1568I" "0,0,0,0,0,0,0,0" 65217 446 dbsnp2690 NP_001191006.1 "A678G,D527E,D616G,E267Q,G278A,L557F,P319A,R475Q,R818Q" "0,0,0,0,0,0,0,0,0" 9354 1812 dbsnp26900;dbsnp26901 NP_001229705.1;NP_001229706.1 "P45L,S12N" "0,0" - 12621 dbsnp26902 NP_689987.3 "E154D,V23L" "0,0" 256130 13521 dbsnp26903 NP_666019.1 "G176R,G222E,I78S,K27E,M43V,P387A,V266I,V5I" "0,0,0,0,0,0,0,0" 7589 7159 dbsnp26904;dbsnp26905 NP_444263.1;NP_057155.1 R13H 0 51650 14581 dbsnp26908 NP_114152.3 "E762D,G329S,S503L,T325M,V319M" "0,0,0,0,0" 116988 2557 dbsnp26909 NP_061915.2 "C93R,H123Y,N21D,R178Q,R661H" "0,0,0,0,0" 54517 4475 dbsnp26910 NP_055192.1 "E58Q,L70M,Q27R,R42K" "0,0,0,0" 27000 4904 dbsnp26915 NP_997046.1 "G383R,R471Q,T244M,V319I" "0,0,0,0" 442721 5890 dbsnp26916 NP_001159827.1 G28R 0 3955 8995 dbsnp26917 NP_066953.1 "A101T,D66E" "0,0" 5478 121 dbsnp26918 NP_803186.1 "L220P,M199L,P293R,P84L,R310H,S184G,T201A,V44M" "0,0,0,0,0,0,0,0" 338398 10458 dbsnp26926 NP_057067.1 G27S 0 51619 12810 dbsnp26927 NP_004218.1 "K82R,R28H" "0,0" 9265 8575 dbsnp2693 NP_078832.1 "A8T,E13K,I346V,R316Q,R347K,Y209C" "0,0,0,0,0,0" 79607 9636 dbsnp26932;hgmd0613_1635 NP_036602.1 "A914V,R546C,T92I" "0,0,0" 23534 2480 dbsnp26934 NP_055867.3 "A108T,A1488V,E621K,G404R,G576D,L1091R,N1265S,P866L,S26A,V1184A,V1184I" "0,0,0,0,0,0,0,0,0,0,0" 23072 729 dbsnp26937 NP_064717.1 "E512K,P527L" "0,0" 9311 5863 dbsnp26938 NP_064718.1 "H495L,H509L,L501F,R494H,S519L" "0,0,0,0,0" 9311 5863 dbsnp26940 NP_150376.1 "A254S,F474S,H199R,H315Q,K267T,M369T,P87S,Q75R,Y135C" "0,0,0,0,0,0,0,0,0" 90827 1203 dbsnp26941 NP_996996.1 "A280V,G85S,I436T,S237L,S377T,S382Y,V222I,V477L,V65L" "0,0,0,0,0,0,0,0,0" 84255 6775 dbsnp26942 NP_115671.1 "L359F,S376T,S424N" "0,0,0" 84255 6775 dbsnp26944 NP_005293.1 "E231V,G108E,G228V,T589M,W182L" "0,0,0,0,0" 2861 4998 dbsnp26945 NP_001073861.1 "K322N,M235T" "0,0" 57189 7496 dbsnp26946 NP_631914.1 "H290R,L301P,L68S,M1I,R217K,R270C,V153F,V176M" "0,0,0,0,0,0,0,0" 168433 9087 dbsnp26949 NP_001008747.1 "E421G,R418K,T348S" "0,0,0" 441294 3150 dbsnp26950 NP_001138912.1 "A129V,A454V,A525T,G398V,H389R,R545G,T49A,T7I,V145I,V62G" "0,0,0,0,0,0,0,0,0,0" 441250 3767 dbsnp26951 NP_001138913.1 "M465T,W210L" "0,0" 441250 3767 dbsnp26953 NP_001096646.1 L6V 0 285888 14746 dbsnp26954 NP_002643.1 "D125G,P124R,Q29R,Q79H,R118W,T32S,V113I,V114I" "0,0,0,0,0,0,0,0" 5304 14004 dbsnp26958 NP_057053.1 "L69F,N125S,P70S,S111T,V14L,V71I" "0,0,0,0,0,0" 51373 14251 dbsnp2696 NP_003649.2 "P264L,P88S,P91L,R252H,S64P" "0,0,0,0,0" 8538 11298 dbsnp26961 NP_835470.1 "D159Y,G184R,G203R,L198V,P155L,Q321L,S263C,V229M,V44I" "0,0,0,0,0,0,0,0,0" 346606 9892 dbsnp26963 NP_001185838.1 P73L 0 9296 13988 dbsnp26964 NP_001231000.1 "G54A,G62R,R51H" "0,0,0" 474344 9376 dbsnp26966 NP_620126.2 "T133M,Y106C" "0,0" 90693 3691 dbsnp26967 NP_116581.3 "F10L,K28N,N43D,P78L" "0,0,0,0" 246721 14447 dbsnp26968 NP_775836.3 "E526K,E573K,E807K,I218T,I226T,I528S,I831V,M550I,R545Q,R92H,T772M,V840M,Y548C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 222967 2771 dbsnp26969;dbsnp26970 NP_775949.2;NP_001123497.1 "A100G,A100T,H787N,H96R,K337N,K817M,P76S,P772T,R750T,V40M" "0,0,0,0,0,0,0,0,0,0" 285966 2493 dbsnp26973 NP_001019778.1 "H21R,M32I,S108P" "0,0,0" 154907 14482 dbsnp26974 NP_932765.1 "C184Y,E214D,I478N,M367I,R139Q,S143G,T178M,V332I" "0,0,0,0,0,0,0,0" 221960 6974 dbsnp26975 NP_001116537.1 V64L 0 401335 13914 dbsnp26977 NP_612443.1 "E202G,N118S,P93L,S155G,V2M,W216R,Y67D" "0,0,0,0,0,0,0" 113763 12217 dbsnp26978 NP_001019774.1 "L53S,T14M" "0,0" 154872 14757 dbsnp26979 NP_001230452.1 "E64K,G56R,R6H,R78H,T11R" "0,0,0,0,0" 100130880 14601 dbsnp26980;dbsnp26981;dbsnp26982 NP_001172001.1;NP_001172002.1;NP_036261.1 M98V 0 9069 12046 dbsnp26985 NP_653328.1 "D68N,E101K,E165K,R33W,R58W,S159A" "0,0,0,0,0,0" 155051 13336 dbsnp26986 NP_072096.2 "A66T,A67T,E397K,P360S,R728W,R879H,V648I" "0,0,0,0,0,0,0" 64599 1964 dbsnp26987 NP_001474.1 "E260G,E260V,L236F,N142S,V233M" "0,0,0,0,0" 2631 11181 dbsnp26988 NP_958924.1 V66A 0 94239 14756 dbsnp26989 NP_060019.2 "A35V,D80E,I139T,P121L,S219R,T147A,T189M" "0,0,0,0,0,0,0" 54749 12465 dbsnp26991 NP_055534.1 "A80T,G82E,I127T,P88T,S108Y,V62M" "0,0,0,0,0,0" 9747 2493 dbsnp26993 NP_778234.2 "A190V,C278R,C278S,C278Y,F273I,G234R,H264R,I265T,K65Q,P281S,R204H,R244H,R246H,R247W,R252C,R269H,R276C,R276H,R277H,S180L,V268L,Y251C,Y251D,Y251H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285955 5864 dbsnp26994 NP_001139003.1 "A55T,C14G,G40S,Q68R,S82N,T9N" "0,0,0,0,0,0" 285941 13569 dbsnp26995 NP_001158727.1 A16D 0 3110 8557 dbsnp26996 NP_001188379.1 "N7D,R39G,R86K,S115L" "0,0,0,0" 401388 14289 dbsnp2700 NP_077021.1 "D215E,K166R,L221V,P56L,R22Q,S65A" "0,0,0,0,0,0" 79101 11310 dbsnp27000 NP_001028690.1 "D392N,I274V,L420V,M438L,N315S,R324P,R38C" "0,0,0,0,0,0,0" 26100 7515 dbsnp27003 NP_001122091.2 "I35V,P48A" "0,0" 767558 14919 dbsnp27004;dbsnp27005;dbsnp27006;dbsnp27007 NP_001230680.1;NP_001230678.1;NP_001230682.1;NP_001230681.1 P55H 0 78996 13782 dbsnp27008 NP_001138740.1 "A30S,L15F,Q19L,R347C,S383R,V332A,Y297D" "0,0,0,0,0,0,0" 222234 8751 dbsnp2701 NP_037412.2 "A461T,D136G,D598N,G571V,I653T,P76L,R298Q,R353W,R452H,R615C,T13R,T395M,T490R,V22I,V352L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23769 4331 dbsnp27014 NP_001191073.1 "G33R,V18L" "0,0" 9734 1647 dbsnp27015 NP_005264.2 "A21S,D195N" "0,0" 2783 8679 dbsnp27016 NP_001001656.1 Y123H 0 130075 10571 dbsnp27020 NP_006538.2 "G173W,I312L,I503T,N359D,P398L,R501S,V522I" "0,0,0,0,0,0,0" 10643 5437 dbsnp27022 NP_001122325.1 "D119E,E273D,E339D,G843V,K383E,K405T,R415Q" "0,0,0,0,0,0,0" 51593 2733 dbsnp27030 NP_951038.1 "A227T,E287K,G177C,G225R,H162L,I202T,K259E,M165K,P354S,S169F" "0,0,0,0,0,0,0,0,0,0" 29969 9548 dbsnp27034 NP_077291.1 "D86N,F63L,N110S" "0,0,0" 79161 14434 dbsnp27035 NP_071929.3 "I577T,S138C,T18S,V23I,V615E,Y38C" "0,0,0,0,0,0" 64418 4103 dbsnp27040 NP_001165909.1 "E229K,R138C,V6I,Y223F" "0,0,0,0" 23089 4003 dbsnp27042 NP_001177836.1 A287V 0 6718 10233 dbsnp27044 NP_060416.1 "K190E,L12V,P25R" "0,0,0" 55033 12732 dbsnp27045 NP_002938.1 S91N 0 6119 14400 dbsnp27046 NP_079090.2 "H366L,P356S" "0,0" 79872 6834 dbsnp27047;dbsnp27048 NP_113622.1;NP_001129516.1 "R174S,R63K,T48R" "0,0,0" 83590 12001 dbsnp27049 NP_001231191.1 "D107G,L5M,R161C,R385P,R387C" "0,0,0,0,0" 26959 6232 dbsnp27051;dbsnp27052;dbsnp27053;dbsnp27054;dbsnp27055 NP_001243441.1;NP_001243440.1;NP_003134.1;NP_001243439.1;NP_001243442.1 "K147E,P5S" "0,0" 6742 13963 dbsnp27056 NP_001003941.1 R409S 0 4967 2014 dbsnp27057 NP_001182079.1 "P142L,R3W,T124M,T55I,T95A" "0,0,0,0,0" 100130705 13448 dbsnp27061;dbsnp27062;dbsnp27064 NP_001092097.2;NP_001092100.1;NP_116032.1 "G486S,P6A,R175Q" "0,0,0" 3663 6421 dbsnp27067 NP_997249.2 "A2T,D203G,I333T,K283E,R45T,S200F,Y342C" "0,0,0,0,0,0,0" 346288 6955 dbsnp27068 NP_060282.1 "A206T,R117C,R176Q" "0,0,0" 54927 12403 dbsnp27069;hgmd0613_947 NP_002480.1 "I5V,N59S,W45C" "0,0,1" 4697 14787 dbsnp2707 NP_001192048.1 "A544D,F430I,G467R,I131V,K413R,L460Q,P276L,S257F,T116M,T281M" "0,0,0,0,0,0,0,0,0,0" 9776 5845 dbsnp27070 NP_116215.1 "A12V,A265V,P58L,T261S,V76M" "0,0,0,0,0" 84912 10132 dbsnp27071 NP_001159818.3 R147S 0 29969 9548 dbsnp27072 NP_001139187.1 "A112V,C357S,D367N,F190V,G155A,G271S,L203F,P244L,P371A,Q503R,R472H,T301S,V289L,V307M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 402569 6146 dbsnp27073 NP_001139184.1 D33E 0 389493 14710 dbsnp27075 NP_055214.1 V49F 0 27075 12751 dbsnp27076 NP_001008396.1 I97L 0 389541 14672 dbsnp27077 NP_002514.1 "A249T,A62V,E183G,I252M,R319W,S192T" "0,0,0,0,0,0" 4885 6680 dbsnp27078 NP_001001317.1 "A42T,D150N,R166H,R63W,V14I,V81M" "0,0,0,0,0,0" 136541 12112 dbsnp27079 NP_996994.1 "A273T,A450V,A50G,A588T,G312R,I393V,L88R,L907V,N26S,P290L,R573C,S285L,T146P,V872M,V896I,Y539F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54476 2481 dbsnp27082 NP_001162153.1 "A163V,A68S" "0,0" 100316904 12995 dbsnp27085 NP_001186744.1 "R101C,R160H" "0,0" 79017 13212 dbsnp27086 NP_775835.2 "A521P,D352N,N190S,R229G,S179F,S23I" "0,0,0,0,0,0" 222950 2954 dbsnp27087 NP_944606.2 "C19S,L8P,M210T,R13Q,R13W,W242R" "0,0,0,0,0,0" 375593 6887 dbsnp27089;dbsnp27090;dbsnp27091 NP_001182472.1;NP_001182471.1;NP_001182470.1 "E200G,F109L,I167V,P102L,R76G" "0,0,0,0,0" 100289187 12522 dbsnp27092 NP_061878.3 "I363T,L27H,P320S,T768M,V796L" "0,0,0,0,0" 54468 2743 dbsnp27093 NP_004880.1 "A9G,K86Q,R33G,R89Q" "0,0,0,0" 9551 3622 dbsnp27095 NP_001161434.1 "A694V,E691G,I535V,L46P,N330S,Q616H,T573A,T706P" "0,0,0,0,0,0,0,0" 375611 3670 dbsnp27099;dbsnp27100 NP_001120830.1;NP_065165.3 C626S 0 57157 3505 dbsnp27102 NP_861456.1 "A134P,K168E,T141M,T253M" "0,0,0,0" 353345 10767 dbsnp27103 NP_001003806.1 "G36R,M79T,V37I" "0,0,0" 445347 14530 dbsnp27104 NP_067046.1 "G118S,I158V" "0,0" 58498 12417 dbsnp27107;hgmd0613_2136 NP_112533.1 R350G 0 3181 9027 dbsnp27108 NP_057531.2 "I118V,N115S,S537I,T340S" "0,0,0,0" 51678 5814 dbsnp27109 NP_001153655.1 G99E 0 7697 1203 dbsnp27115;dbsnp27116;dbsnp27117 NP_001035187.1;NP_001035186.1;NP_076438.1 "G146R,R153H,R173H,R173L,R234W,V210I" "0,0,0,0,0,0" 64598 12247 dbsnp2712 NP_001243625.1 "L465F,R471H" "0,0" 56981 1491 dbsnp27125 NP_002880.1 "K95R,P59T,R125Q,R140G,R140W,R162H,T50N" "0,0,0,0,0,0,0" 5919 13671 dbsnp27129 NP_001186564.1 R361Q 0 117 6733 dbsnp27131 NP_001189472.1 "A780T,M562I,S1134C,S480G,V1228I,V817L" "0,0,0,0,0,0" 1523 805 dbsnp27141 NP_006225.1 I35M 0 5439 14447 dbsnp27142 NP_001026788.1 "F12L,N6S,Q13K" "0,0,0" 90639 14758 dbsnp27147 NP_004117.1 "M1I,R47H" "0,0" 2791 14857 dbsnp27151 NP_001091084.2 "F10L,S9W" "0,0" 548644 14447 dbsnp27154 NP_001123498.2 R387C 0 285966 2493 dbsnp27156 NP_006860.1 "K333N,P121L,Q124E,R110W,R132C,V174M,V60L" "0,0,0,0,0,0,0" 11033 8961 dbsnp27161 NP_056437.4 "H313R,I429T,L336M,L481F,L84S,M367I,R139W,S143N,S194G,V346A" "0,0,0,0,0,0,0,0,0,0" 51622 6974 dbsnp27163 NP_001124292.1 "N59I,N59S" "0,0" 64792 13272 dbsnp27167 NP_001191442.1 "P74A,V56I" "0,0" 100533952 3930 dbsnp27168 NP_789783.1 "M63I,R129K,T127R" "0,0,0" 155465 13458 dbsnp27172 NP_071924.1 "D61G,I59V,R94Q,V176I,V544I" "0,0,0,0,0" 64409 5166 dbsnp27173 NP_006179.2 "E61D,S40L,V6M" "0,0,0" 4951 14534 dbsnp27174 NP_060694.2 "G28R,L68F,M13V,R18S" "0,0,0,0" 55744 14005 dbsnp27175 NP_006745.1 "E31K,I60F,I60V,V106I,V159L,Y118C" "0,0,0,0,0,0" 6856 11737 dbsnp27177;dbsnp27178 NP_037464.1;NP_001092256.1 "N48K,T52P,V13I" "0,0,0" 29923 14905 dbsnp2717;hgmd0613_1147 NP_004046.2 "D10E,D72N,G56D,I428V,L632I,R155H,R18W,R499C,R613W,R615Q" "0,0,0,0,0,0,0,0,0,0" 726 4698 dbsnp27180 NP_001003795.1 "A765T,L597S,M1R,P130S,Y119H" "0,0,0,0,0" 389524 2349 dbsnp27181 NP_689953.1 "A241S,S253P" "0,0" 11112 10002 dbsnp27182 NP_001019784.2 "K87E,P441L,S85G" "0,0,0" 389549 7122 dbsnp27185;hgmd0613_1563 NP_008940.2 "R176L,T174R" "0,0" 11055 9643 dbsnp2719 NP_110410.1 "A423V,P342L,R312H,S456G,V250M" "0,0,0,0,0" 81490 6891 dbsnp27190 NP_062552.2 "F406L,H689R,L401P" "0,0,0" 56257 4180 dbsnp27191 NP_001176.1 "G218E,Q273K,R27C,S298R" "0,0,0,0" 563 10923 dbsnp27192 NP_061932.1 "E46D,R11T" "0,0" 54543 14927 dbsnp27193 NP_057033.2 "P143R,R189H,R267Q" "0,0,0" 51608 10231 dbsnp27194;dbsnp27195 NP_001003802.1;NP_003069.2 P8T 0 6604 6117 dbsnp27196 NP_036433.2 "A274T,E927Q,G1304D,N298S,P711T,P908H,P908R,R738Q,S875G,T1016I" "0,0,0,0,0,0,0,0,0,0" 9863 894 dbsnp27198 NP_006127.1 "I181V,S215C" "0,0" 830 11179 dbsnp27205;dbsnp27206 NP_001078836.1;NP_076966.1 "E104V,M106V,P50A,V151I" "0,0,0,0" 79027 6200 dbsnp27207;hgmd0613_1907 NP_061824.3 "A185T,A305T,G324R,P314L" "0,0,0,0" 3206 8398 dbsnp27212 NP_001154483.1 V201M 0 83787 9835 dbsnp27214 NP_001154485.1 V142M 0 83787 9835 dbsnp27217 NP_057272.1 E48D 0 51412 7975 dbsnp27223 NP_872353.2 "G29A,Q174R,R183C" "0,0,0" 222068 12230 dbsnp27225 NP_005286.2 I389T 0 2845 7904 dbsnp27228 XP_002342769.2 "A25V,E94Q" "0,0" - 13637 dbsnp27229 NP_612435.1 "L489V,R356C,T383A" "0,0,0" 113263 5891 dbsnp2723 NP_068751.4 "A275T,D266G,E340K,E340Q,G356V,H272Q,L287P,L383H,L383P,P411S,T491I,V141L,V51L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 60626 6034 dbsnp27232 NP_872439.1 "G305R,M12I" "0,0" 349075 7957 dbsnp27234 NP_612455.1 "M96T,P115S,R119T" "0,0,0" 115416 12266 dbsnp27235 NP_003587.1 "P175L,V310I" "0,0" 8460 9055 dbsnp27238 NP_058639.1 "I27T,M130I,N24S,N31S,P117S,Y179C" "0,0,0,0,0,0" 50831 10517 dbsnp27239 NP_071496.1 "D9N,M138V" "0,0" 7458 11966 dbsnp2724 NP_940900.1 "A145T,S137A,T110M,W152L" "0,0,0,0" 341032 12204 dbsnp27240 NP_778231.2 F229L 0 221895 12070 dbsnp27241 NP_001122108.1 "G97S,S189N,V630M" "0,0,0" 392617 3048 dbsnp27242 XP_001715183.2 "I96L,Q92K,R70W,Y230H" "0,0,0,0" - 8921 dbsnp27243 NP_005514.1 "L51Q,R132S" "0,0" 3207 10598 dbsnp27246 NP_001129474.1 R113H 0 730130 8989 dbsnp27247;dbsnp27248 NP_057671.2;NP_009207.2 M11V 0 11335 13154 dbsnp27249;dbsnp27254 NP_001240831.1;NP_001240830.1 "R47C,R47G,Y246H" "0,0,0" 4232 10032 dbsnp27255 NP_004594.1 "A48T,D81N" "0,0" 6804 11118 dbsnp27257 NP_073565.2 P210S 0 63974 9982 dbsnp27258 NP_001177925.1 "G186V,L180P,T4A" "0,0,0" 10552 9156 dbsnp27259 NP_006400.2 N17S 0 10552 9156 dbsnp27260 NP_940897.2 "I701V,L693F,L765F,P639L,R655G,T776A" "0,0,0,0,0,0" 100128553 3150 dbsnp27261 NP_061975.2 V30M 0 3202 11500 dbsnp27263 NP_055706.1 S178P 0 11333 13350 dbsnp27264 NP_659467.1 "A184V,R236H" "0,0" 221908 11855 dbsnp27269 NP_002351.1 R123Q 0 7975 13682 dbsnp27270 NP_054704.1 R96H 0 6863 14271 dbsnp27275 NP_003932.3 K188N 0 8976 6572 dbsnp27280 XP_003118632.1 "R328P,R9H,T4M" "0,0,0" - 5864 dbsnp27285;hgmd0613_2354 NP_694578.1 Y86H 0 154881 11133 dbsnp27286;dbsnp27287 NP_005002.3;NP_001035199.1 A40P 0 4899 6611 dbsnp27289 NP_001186603.1 T73I 0 - 10108 dbsnp27290 NP_689769.2 R304C 0 154743 8496 dbsnp27291 NP_001182207.1 Q276H 0 100507421 11016 dbsnp27292 NP_001188301.1 S45Y 0 64753 1541 dbsnp27293 NP_001073980.2 E132K 0 154790 12662 dbsnp27294;dbsnp27295 NP_055703.1;NP_001035109.1 L92F 0 10447 12319 dbsnp27296 NP_667339.1 V87M 0 223082 12090 dbsnp27297 NP_001004351.3 "I466F,P336R" "0,0" 441272 5864 dbsnp27299 NP_005213.3 S241L 0 1750 11037 dbsnp27300 NP_940685.3 K11N 0 221938 11501 dbsnp27303 NP_803238.1 R11W 0 168620 13199 dbsnp27304 NP_001229642.1 P7S 0 100289561 3930 dbsnp27306 NP_001005328.1 "L181V,T239S" "0,0" 401427 10436 dbsnp27308 NP_001107875.1 E171K 0 100134938 11639 dbsnp27309 NP_001005287.1 S168C 0 346528 10436 dbsnp2731 NP_001004753.1 "D84G,H70Y,K327R,R104Q,R136H,R277H,T83A,V128L,V53I,W100L" "0,0,0,0,0,0,0,0,0,0" 119694 9861 dbsnp27310 NP_037425.1 R80K 0 29896 11246 dbsnp27312 NP_001139699.1 "P141A,R79H,S115P,T25I,T25K" "0,0,0,0,0" 6224 14067 dbsnp27317 NP_000006.2 "E203D,I10T,I158L,K256E,M205L,N41Y,P213L" "0,0,0,0,0,0,0" 10 9616 dbsnp2732 NP_057649.2 "D19N,P24L" "0,0" 51287 14786 dbsnp27320 NP_056235.4 "A109G,A232T,D331H,D455G,E261D,H46Y,H78Y,I194V,N222S,P108L,P400L,P69R,R112G,R43G,R47S,R541H,R566C,R568Q,S275F,V592I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25879 5178 dbsnp2733 NP_055448.1 "A1053S,C1052R,E1150G,G1071S,K1050R,R1049Q" "0,0,0,0,0,0" 9646 1497 dbsnp27342 NP_001129580.1 "A141V,E77K,G48R,L176R,P28L,Q96R,R46W,T116I,T167I,V120M" "0,0,0,0,0,0,0,0,0,0" 203069 7008 dbsnp27358 NP_060716.2 E66K 0 55246 12803 dbsnp27359 NP_001011720.1 "C200Y,C256F,D126G,D192V,E116D,F225L,F275Y,I323V,K359N,L222F,R363T,R91S,V114L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 389668 9152 dbsnp2737 NP_001243624.1 "A15V,E934K,G116V,G1170R,H272Q,K166E,R251S,R576H,V371F,V84M" "0,0,0,0,0,0,0,0,0,0" 56981 1491 dbsnp27384 NP_001073900.1 "A215T,A291T,A316S,A316T,C730G,C730R,E705D,E705K,G753D,N101S,N562S,N667D,P226L,P710L,R102W,R294G,R294H,R415W,S358L,T310A,T357M,T759M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57210 3228 dbsnp27396 NP_056174.2 "F158I,G280R,G492E,L33P,L4M,L4Q,P26L,P8R,S291N,V174I" "0,0,0,0,0,0,0,0,0,0" 23516 6806 dbsnp27399 NP_001128626.1 "C475F,P465T" "0,0" 23516 6806 dbsnp27409 NP_001157852.1 "D528N,G347V,I527L,L513V,R311C,S249F,T463A,T74M,V198M" "0,0,0,0,0,0,0,0,0" 27067 5552 dbsnp27411;hgmd0613_1029 NP_003175.1 "D820N,G421E,I53V,P1024A,S185A,Y552F" "0,0,0,0,0,0" 6873 1423 dbsnp27416 NP_001165948.1 "A41T,D80E,L6R" "0,0,0" 50484 7615 dbsnp2742 NP_001230679.1 "D75E,G204S,R165H,R165P,T150M" "0,0,0,0,0" 254552 12205 dbsnp27423 NP_150646.3 "E433Q,L446H" "0,0" 148 6293 dbsnp27426 NP_150647.2 Y430F 0 148 6293 dbsnp27428 NP_004306.3 "E28K,G13E,I31V,R12P,S36N" "0,0,0,0,0" 427 8372 dbsnp27433 NP_653252.3 "A1129T,A1133V,C37R,D616H,I655T,L1118V,M1029T,P1207S,Q232E,R1339T,R391Q,R781G,S833N,V436A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 137902 859 dbsnp27435 NP_892121.1 "I1140V,Y1135H" "0,0" 25962 553 dbsnp27443 NP_001075021.2 "D73N,I78M,L76P,L76Q,R84H" "0,0,0,0,0" 653423 14207 dbsnp27444 NP_001120977.1 V63I 0 427 8372 dbsnp27450 NP_061910.1 "L210M,Q75H,R222Q,R89Q,V236A" "0,0,0,0,0" 54512 12023 dbsnp27452 NP_003831.2 "A185S,A271V,A341T,D342E,F230I,G229C,K179N,L303P,L310S,L353M,P209T,P265S,P98R,Q296K,Q296R,R175W,R18C,R261Q,R261W,R316H,S231L,S291C,S340P,T157M,V199A,V69A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8793 7762 dbsnp27455 NP_001158243.1 "A47T,A571T,C416F,C416S,D28H,D28N,I609T,P682S,Q188R,R16Q,S269P,T623S,V145L,V545M,V575I,V60M,V84I,Y292H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6542 4095 dbsnp2746 NP_852615.1 "K183E,R104H,S25L,V186I,V64D,V80M" "0,0,0,0,0,0" 219927 12862 dbsnp27464 NP_001135797.1 D454E 0 6570 6206 dbsnp27485 NP_004124.4 "G306S,M227I,N356S,Q383H,Q421H,S291R,S29N" "0,0,0,0,0,0,0" 3174 7125 dbsnp27486 NP_079066.5 "A50S,A689V,I180V,K71R,M1164R,P1160S,R1140T,R872H,S459C,V681G,V682G,W1100R" "0,0,0,0,0,0,0,0,0,0,0,0" 79848 1265 dbsnp2749 NP_000724.1 "A108V,A157V,A166E,A166V,D71H,D71Y,P35S,S77G,Y150H" "0,0,0,0,0,0,0,0,0" 916 12815 dbsnp27490 NP_060237.2 "E10A,V2A" "0,0" 55630 4614 dbsnp27491 NP_061158.1 F198L 0 55909 11856 dbsnp27506 NP_001138244.1 "A325V,E518K,I17S,I942T,N359S,N451T,P512A,R26Q,R272C,T386A,V890I,Y657C,Y657F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8439 2355 dbsnp27510 NP_001184222.1 S45L 0 1808 4210 dbsnp27521 NP_075566.2 "A54T,E201K,K162N,K162Q,R279Q,R279W,R69Q,T277I,V117M" "0,0,0,0,0,0,0,0,0" 65263 11182 dbsnp27523 NP_478108.2 "I78M,P76L" "0,0" 10407 14207 dbsnp27524 NP_478114.2 "I25M,P23L" "0,0" 10407 14207 dbsnp27530 NP_078831.3 "D398E,G223S,G265A,L380P,Q430H,R215L,R305C,R390H,R402Q,R417W,S490G" "0,0,0,0,0,0,0,0,0,0,0" 26233 6007 dbsnp27539 NP_001138567.1 "A70T,G29V,I189N,L390S,N142S,P251L,Q256H,R512M,R90T,S257G,S300T,S95R" "0,0,0,0,0,0,0,0,0,0,0,0" 10086 6122 dbsnp27541 NP_060612.2 K26T 0 55174 3977 dbsnp27542 NP_006200.3 G329D 0 5168 2526 dbsnp27552 NP_001003954.1 "A164T,A302V,D272N,D286H,L238P,Q16E,R127H,R349W,R59Q,S50R,T185A,V149I,V29G,V313I,V314M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 312 9509 dbsnp27555 NP_004736.2 "A139T,D787G,I105M,P384Q,S434R,T584M,W790R" "0,0,0,0,0,0,0" 9228 1878 dbsnp27576 NP_001230166.1 "E51G,G21D,K58R,R143H,R161C,R85C,R85H,S71N,T45N" "0,0,0,0,0,0,0,0,0" 100130301 13708 dbsnp27578 NP_997297.2 "A375V,A439T,C41G,C811R,D38Y,G1088S,G1160S,G745S,G90C,L289M,L331S,L74P,L985F,M1143I,P692L,P792L,R1135Q,R1299W,R435Q,R753H,R8K,S190N,S200L,S736N,Y10H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389690 1135 dbsnp27584 NP_478113.2 "A26P,D36G,H20P,P40S,R24Q,R32K,V35M" "0,0,0,0,0,0,0" 10407 14207 dbsnp27585 NP_997294.3 "C607R,D493Y,G524R,M678I,M69V,Q650E,R113Q,R263S,R81Q,S360R,S428I,S539I,S665F,T192P,T660M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389610 4212 dbsnp2759 NP_078938.2 "A472D,A983T,D232V,G980R,M530V,N543S,P224L,P542S,P564S,R1023W,R3W,R705H,T450M,T751M,T929M,V902I,Y533C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55226 2002 dbsnp27590 NP_958784.1 R27H 0 5339 43 dbsnp27603 NP_001070995.1 "A355V,A362T,G476R,L543V,R499C,R503W,R519C,R91C,S365T,T30M" "0,0,0,0,0,0,0,0,0,0" 8629 5580 dbsnp27607 NP_085057.3 "R226C,R226G,V167F,Y475F" "0,0,0,0" 80778 5692 dbsnp2761 NP_001230527.1 "Q60H,R92Q,R98C,V101A" "0,0,0,0" 100533181 14031 dbsnp27611 NP_001135773.1 "A41S,C42Y" "0,0" 91147 2122 dbsnp27613 NP_001243070.1 "D17A,I287V,L71R,R226K,S221N" "0,0,0,0,0" 100861412 10878 dbsnp27617 NP_001433.1 "T126P,V93L" "0,0" 2167 14196 dbsnp27618 NP_057107.3 "A160D,L259P,N156T,Q132R,R313Q,V250I" "0,0,0,0,0,0" 51633 10341 dbsnp27622 NP_878185.1 H463R 0 51435 5064 dbsnp27624 NP_039253.1 "A127P,A170V,A34E,G46R,R66S,V133L,V155I,V52M" "0,0,0,0,0,0,0,0" 3084 4643 dbsnp27632 NP_079091.3 "E303K,E66Q,M224V" "0,0,0" 79873 10342 dbsnp27657 NP_001153468.1 I3T 0 3084 4643 dbsnp27661;dbsnp27662 NP_115754.3;NP_001123525.2 "A183S,A325T,A37S,A549S,A99V,D73N,G4R,G69S,H348R,Q135R,Q612E,Q612H,R192C,R353Q,R353W,R585H,S116L,V13M,V602M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1936 4623 dbsnp27664 NP_079043.3 "D84N,E56G,F257I,K309M,L325P,L81V,N255D,P241A,P241T,P282S,Q254H,Q317H,Q320H,R27C,R27H,R338C,R351Q,R351W,R388W,T260I,T417I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10395 795 dbsnp2767 NP_056239.3 "A126D,A15T,D30V,E304K,G439S,I226V,P165L,P335L,P415L,R286H,R418H" "0,0,0,0,0,0,0,0,0,0,0" 25884 7579 dbsnp27678;hgmd0613_1651 NP_039250.2 "A102T,A552V,E134K,E371K,E456A,E456G,E493D,G621V,M294T,N164T,N362K,P608H,R282H,R38Q,R550Q,R550W,R611C,S324P,S324T,S374A,S520R,T400I,T416S,V266L,V442I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3084 4643 dbsnp27679 NP_039256.2 A158V 0 3084 4643 dbsnp2768 NP_004214.1 "A37T,F57L" "0,0" 9246 13826 dbsnp27680 NP_001153473.1 A113T 0 3084 4643 dbsnp27688 NP_001157929.1 "A100T,A22D,D259N,G47R,H138L,I131V,I90L,K5N,L7V,R189W,R198S,R300K,S128N,S296F,S53A,T167S,T96I,V236A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100131980 10859 dbsnp2769 NP_777562.1 "A46T,G22R,G329S,K128E,L166V,R296Q,S13T,S149R,S59N,T342S" "0,0,0,0,0,0,0,0,0,0" 143458 9801 dbsnp27695;hgmd0613_2430 NP_849188.4 "A1319G,A1483V,A1709V,A1840G,A1946E,A2182D,A487V,D1873G,D1889V,D2152E,D997E,E1340G,E1369K,E1540D,E1636K,E1852Q,E1866D,E2070V,E2140K,E2156D,E2171K,E814G,G1364A,G1816D,G183S,G2022S,G2285R,G380R,G514S,H222P,H2335R,L64F,L792P,P1495R,P2119S,P2199L,P2271R,P284L,P44A,P73S,P968S,Q2088H,R1146W,R1467S,R23C,R860W,S1963A,S564C,S951L,T112S,T1954A,T2331M,V362A,V53I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94137 248 dbsnp27696 NP_116291.1 "D184E,D262N,T358A,T443I" "0,0,0,0" 84988 6171 dbsnp27697 NP_001183949.1 "G268A,P266L,T253S" "0,0,0" 203074 9603 dbsnp2770 NP_001004325.1 "C137R,C42F,G29R,R35C,V151L" "0,0,0,0,0" 440021 11311 dbsnp27701 NP_002458.2 "F22L,H302Q,N24S,S362F,Y47H" "0,0,0,0,0" 4609 7516 dbsnp27704 NP_071746.1 "S19N,V276M" "0,0" 64168 9644 dbsnp27705 NP_919270.2 "A399T,H52R,I140V,L148V,R248W,S252T,T362I" "0,0,0,0,0,0,0" 169355 8165 dbsnp27706 XP_001714945.1 "G69R,G86R,L217H,P98S,Q188P,R245C,R353G,S47G" "0,0,0,0,0,0,0,0" 100129098 8554 dbsnp27708 NP_113627.1 "A350S,A379V,G267S,L213V,T169S" "0,0,0,0,0" 83595 8844 dbsnp2771 NP_001238893.1 "D56E,Q82K" "0,0" 63970 14343 dbsnp27724 NP_659400.2 "A403S,D418A,P188H" "0,0,0" 157769 2976 dbsnp27726;hgmd0613_2441 NP_874365.3 "A1270G,A440V,A551T,C496Y,D185N,D426N,D93A,G1216S,G1286R,G145R,G1555S,G667S,G951W,G980R,H1217P,K694E,L1187V,P1450R,P1592L,P1609L,P422L,P507L,P567S,R1152H,R1355W,R771L,V1186M,V1380L,V281M,V447I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23513 685 dbsnp27727 NP_150094.5 "A2908T,A639V,D1369N,D2902G,E3176K,E909K,F3448I,G2181W,G2979D,G2979S,G3482S,G693D,G793D,H1303Q,H761R,I1833T,I1927M,I354S,I687V,L2599F,L3397V,M2040I,N1497S,N2867S,N68S,P3087L,P901L,Q1782K,Q3369H,R1407T,R2718K,R563I,S194L,S2624N,S3088N,S3478N,S735A,T1007M,T1656M,T2229A,T2551M,T2730M,T2N,T539R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64478 88 dbsnp27732 NP_068547.2 A534V 0 10863 3409 dbsnp27737 NP_001229392.1 G89A 0 114907 11662 dbsnp27739 NP_542382.1 "A25S,A25T,D107H,D107Y,R133H" "0,0,0,0,0" 90390 13407 dbsnp27740 NP_001243028.1 "G189E,G191V,I60V,K11E,M1V,R142H,R179H,S83R,T214S" "0,0,0,0,0,0,0,0,0" 115908 12054 dbsnp27745 NP_056125.3 "A330V,A642E,A835T,E206Q,G282A,G349V,L987F,L987V,N661S,P293L,Q444R,Q594R,R115I,R342H,R383C,T186M,T186P,T563I,V716I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23362 1907 dbsnp27746 NP_112598.2 "D162G,D1670G,D1711N,E783D,E783Q,E790D,G1708S,L2157F,L5068V,L779V,L795I,Q2075P,R1066H,R1092C,R1158W,R1409Q,R1679C,R1706H,R2215C,R4909H,R787P,S2168G,T1438R,T1840M,V1767M,V1864I,W2173C,Y744C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83481 29 dbsnp27747 NP_116166.9 "A355T,A538V,A681T,A786T,G1016R,G1318S,G391S,G407S,G952D,G961D,N602S,P581R,P870T,R1043C,R405H,R600K,T307S,T348I,V320M,V541M,V647I,V772L,V772M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25960 1091 dbsnp27755 NP_001002814.2 "A1124T,A279E,A279V,A415T,A651V,A768V,A848V,A905V,D954N,E1250K,E668G,E896K,G851R,I602T,I612V,I784V,L312F,M1185T,M1185V,M672L,P1077L,P239L,P472L,P530L,P707L,Q622K,R789W,R808C,S1156L,S307C,S477L,T229M,T358S,T441M,T817M,V1004A,V1260A,V576A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80223 1198 dbsnp27757 NP_001073868.2 "G16R,I249T,L33F,N144D,P26S,S147G,S446N" "0,0,0,0,0,0,0" 729330 7071 dbsnp27758 NP_001129505.1 A176V 0 22827 5713 dbsnp2776 NP_059121.1 K120R 0 53340 13906 dbsnp27762 NP_075568.1 "A11T,A12V,E63K,G25R,L178M,R78W,S209C" "0,0,0,0,0,0,0" 65265 12353 dbsnp27766 NP_996889.1 "A230V,A237T,A366V,A88V,I71T,L364P,Q358H,R268G" "0,0,0,0,0,0,0,0" 84985 7878 dbsnp27772 NP_877724.1 "A205V,D194G,I188M,K56N,M90T,R107Q,S24N,T48K,T48M" "0,0,0,0,0,0,0,0,0" 10361 12663 dbsnp27785 NP_066997.3 "A406V,A869T,D469Y,E577A,E774V,I298V,K287N,K616E,P268T,P785A,P785T,P919L,T856M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57805 2482 dbsnp27786 NP_001182032.1 V289A 0 2936 6250 dbsnp2778;hgmd0613_1165 NP_004170.1 "A300T,A304V,H426D,H426Y,H78Y,K163N,L274I,N57I,R142C,R406W,T310M,V177I" "1,0,0,0,0,0,1,0,1,0,0,0" 7166 6835 dbsnp27790 NP_001129219.1 "L37P,P8A" "0,0" 252969 10093 dbsnp27796;dbsnp27797 NP_001008710.1;NP_006858.1 T186A 0 11030 12564 dbsnp27804 NP_001007091.1 "D256G,G137V,K12Q,K219T,K268E,N89K,Q123R,Q187E,S212C,S46F,T306I,V114L,V313M,Y76C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157773 10414 dbsnp27805 NP_003832.2 "C91Y,E82A,H58D,K9R,N81S,P172S,T197K,T197R,T214I,T214N,T7I,V15F,V73M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8794 11717 dbsnp27807 NP_114415.1 "G52E,H252Y,K5R,N67D,R167W" "0,0,0,0,0" 83940 10947 dbsnp27809;hgmd0613_2424 NP_821133.1 "N332K,V91I" "0,0" 203068 7569 dbsnp27816 NP_001182726.1 G38E 0 23643 13713 dbsnp27819 NP_056016.1 "D49N,E82G,G67S,L42F" "0,0,0,0" 23246 3654 dbsnp27829 NP_067643.3 "A544V,A602V,D467E,E284K,G38C,N342D,P130L,R353C,R419C,R429Q,R589H,R601Q" "0,0,0,0,0,0,0,0,0,0,0,0" 64236 5120 dbsnp27833;dbsnp27834 NP_001120685.1;NP_002337.1 "C23W,D104N,V111I" "0,0,0" 4061 14235 dbsnp27836 NP_055277.1 R100K 0 27257 14208 dbsnp27838 NP_998784.1 "I78V,K153R,N104S,N29D,W200L" "0,0,0,0,0" 51606 6958 dbsnp27847 NP_079035.1 "A15T,A216T,D341H,G92D,I247V,R366T,T165P,T165S,T275M" "0,0,0,0,0,0,0,0,0" 79815 9247 dbsnp27849 NP_079446.3 R976M 0 80243 681 dbsnp27852 NP_940974.2 "E537Q,E87K,G237R,G288R,G470S,G585S,H356Y,I145F,L577F,P110L,P262L,P286L,P410T,R230W,R32W,R425H,R503C,S155N,S329F,S65P,T285N,T292I,V334I,V446G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375686 5263 dbsnp27854 NP_789847.1 V347A 0 64236 5120 dbsnp27856 XP_001714084.1 "G417E,H233Q,R337L,R455G,W324S" "0,0,0,0,0" 392275 7334 dbsnp27859 NP_079527.1 "A412P,G231S,G779A,P870L,Q629R,R1047C,R667Q,V636I,V836I" "0,0,0,0,0,0,0,0,0" 80728 1682 dbsnp27871 NP_113654.4 "A1157T,A438V,A620T,D168N,E1013K,E1065D,E126K,F369L,G1031S,L659M,Q370K,R1148Q,R1217Q,R145Q,R383W,R63G,S1019N,S1236R,S186L,S54G,S992N,T113M,V101I,V1153I,V1179I,V1239M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83696 1296 dbsnp27873 NP_056069.2 "A1792T,A334T,A948S,A964P,E217K,F131L,I719M,L429V,M151V,P1539L,R1029W,R1134W,R369W,R656K,S1258I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23303 542 dbsnp27875 NP_003146.1 "L182M,R230Q" "0,0" 6781 11989 dbsnp27881 NP_078997.4 "A1639V,A1684T,A377T,D1154V,D3414N,E1149Q,E393Q,G1648W,G1952D,G3114D,G3134S,I1743K,I2081V,I2328V,K2687R,K2765Q,K520R,L2845V,L408P,N1167K,P1273S,P2469L,R56H,S1749N,S627P,T1187P,V3078G,V3564F,V66I,V66L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79776 96 dbsnp27882 NP_003792.1 "A429T,A514T,E275Q,K621N,R493G,S210F" "0,0,0,0,0,0" 8733 4905 dbsnp27889 NP_001229597.1 "A58E,A68T,A79T,R2L,R65Q,R65W,T26I" "0,0,0,0,0,0,0" 389676 14639 dbsnp27890 NP_689971.4 "K584N,S224N" "0,0" 253943 5345 dbsnp27909 NP_443190.2 "A512T,P349R,R221H,R245Q,V525I" "0,0,0,0,0" 116328 6026 dbsnp2792 NP_859072.1 "A262V,P64A,R73C" "0,0,0" 283150 10630 dbsnp27922;dbsnp27924 NP_001129127.1;NP_001123950.1 "T71M,T71R" "0,0" 4062 13709 dbsnp27925 NP_689626.2 "A385V,D223G,G376S,Q333R" "0,0,0,0" 137362 8145 dbsnp27926 NP_055492.3 D827N 0 9699 1069 dbsnp27927 NP_001093587.1 "D287V,D769A,H948Y,H96R,K60E,Q487R,R676W,S278F,T1325N,T187I,V593L" "0,0,0,0,0,0,0,0,0,0,0" 9699 1069 dbsnp2793 NP_003311.2 "A105V,E253K,G175S,G191E,I318V,K363R,M449V,R115Q,R49Q,R52Q,V283I,V431I" "0,0,0,0,0,0,0,0,0,0,0,0" 7275 5674 dbsnp27930 NP_859074.1 "G92R,R412C" "0,0" 286097 6140 dbsnp27931 NP_940890.3 "A1113V,E535D,E694V,G18R,G720R,G902E,H201Y,H437Y,P637L,S788N,V429L" "0,0,0,0,0,0,0,0,0,0,0" 286077 1483 dbsnp27932 NP_659441.3 "M668T,R588Q,T758I" "0,0,0" 203102 3305 dbsnp27941 NP_003738.2 "A1323T,C97Y,K1157R,N1175S,P143A,R200S,R646C,S80F" "0,0,0,0,0,0,0,0" 8658 1112 dbsnp27946 NP_001241681.1 "K83N,L30P,L67Q,P123L,R139H,V90I" "0,0,0,0,0,0" 7381 14099 dbsnp27947 NP_060780.2 "D9N,E320D,G48R,K174N,R275W,R394H,T377I,V35L" "0,0,0,0,0,0,0,0" 55290 8189 dbsnp27948 NP_055109.1 "A208T,N144D,V306I" "0,0,0" 23471 9126 dbsnp27949 NP_631905.1 "G370S,G9R,I377M,K246E,S110F,V101F,W36R" "0,0,0,0,0,0,0" 137735 8964 dbsnp2795 NP_058627.1 "A10T,D447Y,E273K,E297K,E42D,L552V,L97F,N230S,P388S,R147Q,R334K,R470C,R525W,S401Y,S91G,T217A,Y423C,Y512C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50507 5449 dbsnp27951 NP_001191798.1 "G137R,H134Y" "0,0" 8840 9251 dbsnp27954 NP_001096029.1 "C261R,R202H" "0,0" 84513 11618 dbsnp27955 NP_116236.1 "A186G,A186P,A186V,C140S,F17L,F306S,K210R,R67Q,V256M" "0,0,0,0,0,0,0,0,0" 84933 8990 dbsnp27956 NP_001191109.1 "A154G,A154P,A154V,C108S,F274S,K178R,R35Q,V224M" "0,0,0,0,0,0,0,0" 100533106 8990 dbsnp27957 NP_079088.1 "R112K,S129T" "0,0" 79870 13357 dbsnp27959 NP_443156.2 "A578T,G21R,L255I,S92T" "0,0,0,0" 114822 4375 dbsnp27964 NP_653250.2 "D145G,D154E,D204Y,D78E,D78G,E125D,H44P,I88V,R62C,R62H,T89S,V97I" "0,0,0,0,0,0,0,0,0,0,0,0" 137835 11359 dbsnp27966 NP_055235.1 "D150Y,G117E,G173A,P168T,V5I" "0,0,0,0,0" 27121 12466 dbsnp27970 NP_061840.1 "C45W,G222S,K268N,K26Q,R141T,T241S,T413K,V121L,V84I" "0,0,0,0,0,0,0,0,0" 54212 6001 dbsnp27971 NP_115581.3 "A72G,R494H,S313L" "0,0,0" - 2041 dbsnp27972 NP_057102.4 "A72G,A989V,H581Y,R494H,R603Q,S313L" "0,0,0,0,0,0" 51105 2041 dbsnp27985;dbsnp27986 NP_009153.3;NP_001017926.1 "G395S,I196T,P442L,P550L,P80A,R581C,R862P,S174L" "0,0,0,0,0,0,0,0" 11244 2755 dbsnp27987 NP_009149.2 "I401V,I649T,L22F,R573L,T228K,T228R,Y151H" "0,0,0,0,0,0,0" 11236 4442 dbsnp27988 NP_803253.1 T29M 0 66004 14236 dbsnp27992 NP_001917.1 "D27N,D46E,E35D" "0,0,0" 1671 14655 dbsnp27994 NP_001186578.1 A875V 0 5747 1807 dbsnp27996 NP_848659.2 "L306F,L397P,R269H,R293C,R352H" "0,0,0,0,0" 340371 6056 dbsnp27997 NP_036211.2 "A180V,K152R,N266S,R212C,T248N" "0,0,0,0,0" 8694 6879 dbsnp2800 NP_114110.1 "A37V,D277H,E142K,G287V,H18P,P102L,P279L,R404W,R443W,V42A" "0,0,0,0,0,0,0,0,0,0" 83786 7330 dbsnp28008 NP_001035121.1 "A290V,Q216H,Q36H,R120H,R215S,V139I" "0,0,0,0,0,0" 203076 11002 dbsnp28009 NP_689485.1 "A146V,P402S,R228C,R403C" "0,0,0,0" 91782 7541 dbsnp28010 NP_066301.1 "A330T,A436V,D228E,G204R,L25M,L512V,P220S,P229S" "0,0,0,0,0,0,0,0" 6641 5984 dbsnp28012 NP_001244246.1 F277S 0 81501 7205 dbsnp28013 NP_001073995.1 "E102G,F71L,G68R,P39L,V2A" "0,0,0,0,0" 646480 14175 dbsnp28014 NP_001073885.1 "E666D,T442A" "0,0" 4603 3598 dbsnp28015 NP_612376.1 "N202S,R41G,R516C" "0,0,0" 90987 4363 dbsnp28018 NP_001153508.1 "D390N,G399A,G7V,P285L,P732L,Q347R,R385H,R666H,S331L,S558R,T14A,V266M,V267A,V416M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23221 3623 dbsnp28019;dbsnp28020;dbsnp28021;dbsnp28022;dbsnp28023;dbsnp28024;dbsnp28025;dbsnp28026 NP_001035714.1;NP_001035716.1;NP_001035715.1;NP_001035717.1;NP_001035718.1;NP_114430.2;NP_001035719.1;NP_001035720.1 I170V 0 83988 13130 dbsnp28028 NP_065800.1 I14V 0 57509 1232 dbsnp28029 NP_001001931.1 G61R 0 57509 1232 dbsnp28030 NP_001073863.1 "G4D,M316K,P809L,S858P,S896T,T652A" "0,0,0,0,0,0" 23514 2527 dbsnp28032 NP_689978.2 V94M 0 254778 12824 dbsnp28033 NP_004086.1 "E88D,P66T,S65P" "0,0,0" 1978 14403 dbsnp28034 XP_001714430.1 E15D 0 - 7319 dbsnp28035 NP_006747.1 "E106K,L86V" "0,0" 6917 10846 dbsnp2804 NP_005429.1 "E143K,G46S,P224L,R107S,R114Q,R197C,S191R" "0,0,0,0,0,0,0" 8061 11466 dbsnp28040 NP_710159.1 "A234S,D311E,D445H,G161S,I317N,K176M,V184A,V197L" "0,0,0,0,0,0,0,0" 203100 6998 dbsnp28041;dbsnp28042;dbsnp28043;dbsnp28044 NP_001121678.1;NP_055985.2;NP_001121676.1;NP_001121677.1 "A494V,I371V,I464M,K532R,P154A,R339H,R495G,R597G,R844K,T530I,T785M,T816M,V359I,V814M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23213 2768 dbsnp28045 NP_001019849.2 "A88V,L315Q,S170A" "0,0,0" 441381 6435 dbsnp28046 NP_694560.1 "A222E,A222V,F280L,S305G,T94A" "0,0,0,0,0" 157753 10768 dbsnp28047 NP_003807.1 "A234V,E76K,P750L,P767L,R296Q,R296W,V94I" "0,0,0,0,0,0,0" 8754 3097 dbsnp28052 NP_005932.2 "R310H,S399G,V139I" "0,0,0" 4325 4380 dbsnp28053 NP_054797.2 "G86E,I163V" "0,0" 28998 13408 dbsnp28054 NP_071328.2 "E605K,G720R,L478V,L750F,P786S,R163S,R411K,R595Q,R736W,S501T,T441A,T531N,T567S,V504I,W246R,Y144C,Y183C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27085 2599 dbsnp28057 NP_000962.2 "G3R,Y144S" "0,0" 6129 11967 dbsnp28058 NP_149096.2 "G84R,Q10E,R11Q,R11W,R193P" "0,0,0,0,0" 85479 12996 dbsnp28059;dbsnp28060 NP_079012.3;NP_001159709.1 "E403K,L186M,L231F,Q396R,R249H,R53H,T205M,T453A" "0,0,0,0,0,0,0,0" 79792 6939 dbsnp28061 NP_005653.3 "Q166R,T137N,T51R" "0,0,0" 7419 10675 dbsnp28063 NP_002559.2 "A154G,C132G,D165G,F409L,G579S,H144R,K231E,L218V,L562S,L593V,L597P,M584I,P402L,Q558E,R455C,R481C,S227G,T147M,T48P,V517L,Y408F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26986 4486 dbsnp28066 NP_001007177.1 S81G 0 492307 14810 dbsnp28076 NP_115826.2 "H419Q,K213R,V158I,V165I" "0,0,0,0" 727957 695 dbsnp28079 NP_001153696.1 D175N 0 81790 11747 dbsnp28084 NP_001005365.2 "A271T,C337W,E485Q,G155D,H470P,K194E,Q375K,R212Q" "0,0,0,0,0,0,0,0" 340441 1801 dbsnp28085 NP_061180.1 "G212V,H254Q" "0,0" 55529 11205 dbsnp28086 NP_861452.2 "A192V,A230V,A314P,A326P,E113Q,F412L,I214V,I467T,K660N,L232F,L449V,M481L,P7L,V176A,V317L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286148 3858 dbsnp28087 NP_001186788.1 "L247P,M459I,Q95H,R383Q,S245I,T257K" "0,0,0,0,0,0" 284 6706 dbsnp28089 NP_078869.1 "R54Q,S193C" "0,0" 79645 12733 dbsnp2809 NP_055082.1 "D73A,E146K,R5K" "0,0,0" 10944 13313 dbsnp28090 NP_056273.2 "A139T,C413S,D293E,E547D,G182E,K266Q,L370M,N502S,P20H,Q80H,R359P,S126C" "0,0,0,0,0,0,0,0,0,0,0,0" 66036 5866 dbsnp28091 NP_631906.2 "K238R,P196L,P29S,R111Q,S214T,S267P,V58I" "0,0,0,0,0,0,0" 137868 10625 dbsnp28092 NP_001013648.1 R91T 0 286187 12382 dbsnp28094 NP_001093226.1 "G107D,L201P,R657H" "0,0,0" 55638 4452 dbsnp28109 NP_001001795.1 "F72L,P82R,S85C,S85T,T10I" "0,0,0,0,0" 414919 12622 dbsnp2811 NP_003645.1 "T274M,T341I" "0,0" 8534 8363 dbsnp28110 NP_001156386.1 "K187R,N427S,S51N,Y147C" "0,0,0,0" 100130274 7795 dbsnp28111 NP_079063.2 "D32H,P110L" "0,0" 79845 13566 dbsnp28113;dbsnp28114 NP_001123360.1;NP_116076.1 "G142V,G142W,T57I,W141C,W141S" "0,0,0,0,0" 50626 9377 dbsnp28115 NP_002668.1 "G122D,I50T,N60I,N60T" "0,0,0,0" 5375 14175 dbsnp28116;dbsnp28117 NP_001129193.1;NP_060538.2 "A618V,A913T,E643K,G502R,G630S,H355Q,H561Y,L719F,L822V,M615K,M636T,P123S,P6R,P87T,Q307R,R110H,R179W,R555C,R5Q,R755C,S117C,S58G,V812L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55124 2226 dbsnp2812 NP_001004124.1 "I108M,I243M,I45F,L305F,L305P,L99H,M134V,R120H,R297K,Y118H,Y285D" "0,0,0,0,0,0,0,0,0,0,0" 81300 9203 dbsnp28120 NP_001121680.1 E107D 0 23484 13570 dbsnp28124 NP_001013864.1 "A257T,H285Q,P221S,P234L,P273S,R123W,R136H,R311W,R358Q,R35G,T30S,T347S" "0,0,0,0,0,0,0,0,0,0,0,0" 541565 9311 dbsnp28126 NP_777571.1 "D28E,P278R" "0,0" 157638 10662 dbsnp28127 NP_079508.2 "D175A,E100D,G146S,G15E,P211A,R149Q,R180Q,R221C,R240C,R245Q" "0,0,0,0,0,0,0,0,0,0" 80346 11776 dbsnp28128 NP_079330.2 "A1045S,A765T,G858C,I642V,P748S,Q254E,R1139K,R1139M,S1036F,Y819H" "0,0,0,0,0,0,0,0,0,0" 80124 1353 dbsnp28130 NP_001186588.1 "A284V,A439D,D243N,E313K,E377G,G304R,I405V,I79V,M201L,P12T,R228C,S210C,T433M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 137994 7701 dbsnp28134 NP_059997.3 "A70G,A70V,A87T,C121F,C121Y,E53K,R101W,R77H,R94K,V72E,Y120C" "0,0,0,0,0,0,0,0,0,0,0" 54742 13636 dbsnp28136 NP_001135917.1 D45E 0 286 489 dbsnp28138 NP_110422.2 "R41K,R51P" "0,0" 81551 12623 dbsnp28139;dbsnp28140;dbsnp28142 NP_001107608.1;NP_001969.2;NP_001107607.1 "K231M,K231R,K231T,R19Q,R273Q" "0,0,0,0,0" 2039 8497 dbsnp28147;dbsnp28148;dbsnp28149 NP_803429.1;NP_803430.1;NP_803252.1 "K59R,M13R,P99Q" "0,0,0" 66004 14236 dbsnp28151 NP_778250.2 "L177V,S120A" "0,0" 157695 13023 dbsnp28152 NP_001239331.1 "A213V,E82K,H149Y" "0,0,0" 340393 12248 dbsnp28153 NP_001239333.1 "G106R,H153Y,P117L,R108C,S212L" "0,0,0,0,0" 340393 12248 dbsnp28154 NP_689781.1 "A25S,A32T,D108Y,G15R,R122C" "0,0,0,0,0" 157848 14174 dbsnp28155 NP_006429.2 "E78D,R125W,R137W,R179W" "0,0,0,0" 10584 11335 dbsnp28156 NP_060877.3 "A189S,D202G,M179K,P310L,Q143E,R272Q" "0,0,0,0,0,0" 55353 10490 dbsnp28160 NP_001191102.1 "D133G,E234G,H156N,I446S" "0,0,0,0" 100533105 6199 dbsnp28161 NP_001693.2 "A1507V,A185T,A317T,R1255Q,T845M" "0,0,0,0,0" 575 749 dbsnp28162 NP_898880.1 "R203W,V46M" "0,0" 51160 12285 dbsnp28164 NP_741983.2 "A141T,A311T,A87T,D221N,K81Q,M243L,Q135H,R167C,R374C,R456C,T452A,V250I" "0,0,0,0,0,0,0,0,0,0,0,0" 23087 6801 dbsnp28165 NP_054894.1 "E161Q,G18V,L158S,P192T,R43W,R57G,T176I,V173G" "0,0,0,0,0,0,0,0" 29088 10969 dbsnp28166 NP_112157.2 "D157E,F27S,N195S" "0,0,0" 79943 9127 dbsnp28167 NP_061130.1 "A198V,D311N,H234D,P77S,T309I" "0,0,0,0,0" 55893 6436 dbsnp28168 NP_001684.2 "D380E,R4Q" "0,0" 526 6422 dbsnp2817 NP_789791.1 "A6S,D339Y,E482D,F338S,F446S,G633E,K270R,K435N,R10Q,R243W,R370K,R492H,V206E,V359L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338322 4538 dbsnp28171 NP_997389.2 "A125G,I195T,I24V,T107I,T62M" "0,0,0,0,0" 401474 12953 dbsnp28172 NP_001139311.1 "D78E,H333P,I328N,R27G" "0,0,0,0" 9650 9724 dbsnp28173 NP_001243802.1 "D302V,E343K,F17I,H412Y,Q509R,T512A" "0,0,0,0,0,0" 401447 5710 dbsnp28174;dbsnp28175;dbsnp28176;hgmd0613_2072 NP_078807.1;NP_001240744.1;NP_001240745.1 "A118D,A124S,G179S,R275H,V160M,V205I,V347M,Y388C" "0,0,0,0,0,0,0,0" 79581 7631 dbsnp28177 NP_004933.1 M16I 0 1673 14898 dbsnp28178 NP_003120.2 "F425L,I348V,N313Y" "0,0,0" 6713 5511 dbsnp2818 NP_001164197.1 "A278V,A407V,H417R,L300M,L56F,R187W,T364P" "0,0,0,0,0,0,0" 56834 7114 dbsnp28180 NP_001164267.1 "A193P,N136S,V161G" "0,0,0" 79752 11533 dbsnp28183 NP_064515.1 E49Q 0 56892 14574 dbsnp28184 NP_002018.1 "D328N,F117L,N85S,V64I" "0,0,0,0" 2339 8996 dbsnp28185 NP_057111.1 "I93V,R106Q" "0,0" 51110 11150 dbsnp28187 NP_037423.2 "A433V,A924T,E58D,L754F,Q267E,T248M,V1029L,V293I" "0,0,0,0,0,0,0,0" 29894 913 dbsnp28188 NP_006562.1 "I137V,T74I" "0,0" 10671 13180 dbsnp28191 NP_056970.1 "A187P,A187T,A69T,L25F,M176T,P141L,R58Q,V7I" "0,0,0,0,0,0,0,0" 51050 6671 dbsnp28192;dbsnp28193 NP_056962.2;NP_680479.1 "K125T,S205F,S326R,S443R,V117A" "0,0,0,0,0" 51582 7393 dbsnp2820 NP_689800.3 "A64T,H200Y,I273M,I50T,P47R,P81T,Q44E,S258L,S7L" "0,0,0,0,0,0,0,0,0" 160140 10588 dbsnp28200 NP_066405.1 "A291T,E284K,N258S,S194C,T446S" "0,0,0,0,0" 58500 5693 dbsnp28204 NP_060561.3 "A47T,I108L,R139H,R399Q,R487W,V374I" "0,0,0,0,0,0" 55140 5892 dbsnp28205 NP_001129143.1 M1K 0 4482 12233 dbsnp28206 NP_055604.3 "A210V,C489Y,K149I,K17R,M1T,P234L,R507S,T39M,T39R,T93A" "0,0,0,0,0,0,0,0,0,0" 9831 6040 dbsnp28207 NP_001138631.1 "C160Y,F38L,G112S,K393R,Y161C" "0,0,0,0,0" 55756 4504 dbsnp2821 NP_001005922.1 "A224V,C170F,C223R,C59R,G175R,G192V,G20S,G27S,G67A,S163C" "0,0,0,0,0,0,0,0,0,0" 387264 11311 dbsnp28210 NP_001713.2 "N122S,P246L,Q338H" "0,0,0" 661 8635 dbsnp28213 NP_001186809.1 M165V 0 1960 5942 dbsnp28216 NP_733466.1 "A31T,A97T,G199R,G201E,P93S,V336A" "0,0,0,0,0,0" 8601 8845 dbsnp28217 NP_003304.1 "N140S,P4H,R55C,S203L" "0,0,0,0" 7264 10385 dbsnp28218 NP_476499.1 G23E 0 1846 8700 dbsnp28219 NP_001435.1 "F73L,H97N,H97Y,K34E,W100C" "0,0,0,0,0" 2171 14175 dbsnp28220 NP_001153827.1 "A90V,R76H" "0,0" 54742 13636 dbsnp28221 NP_001153826.1 D109H 0 54742 13636 dbsnp28224;dbsnp28225 NP_001127768.1;NP_006794.1 "A35G,R290S" "0,0" 10947 8211 dbsnp28226 NP_055682.1 "D494N,R477C,Y468C" "0,0,0" 9920 4873 dbsnp28227 NP_689631.1 "D13E,L279F,N313S,Q60K,S315F,S67P" "0,0,0,0,0,0" 138009 6746 dbsnp28229 NP_525128.2 "R36C,R38Q" "0,0" 140596 14866 dbsnp2823 NP_001005168.1 "E186K,F108L,F256V,G102D,H106Y,I33F,L292F,L42R,N94D,R137Q,R192C,Y129C" "0,0,0,0,0,0,0,0,0,0,0,0" 390079 10020 dbsnp28230 NP_001008711.1 "N122S,P194H,R185K" "0,0,0" 11030 12564 dbsnp28231 NP_115712.1 E4Q 0 84296 12487 dbsnp28232 NP_115856.1 "A91T,K202R,T195A" "0,0,0" 444 3534 dbsnp28235 NP_006219.1 Q108K 0 5368 13449 dbsnp28236 NP_005827.1 M1K 0 10247 14142 dbsnp28237 NP_067636.1 R382H 0 59339 8042 dbsnp28240 NP_065748.1 "T284A,V269I" "0,0" 3788 6193 dbsnp28241 NP_776193.1 "A24V,H137Q,I79V,P37S,P46T,R104C,V108A,V77M" "0,0,0,0,0,0,0,0" 286128 13024 dbsnp28242 NP_001011668.1 R73W 0 79145 14543 dbsnp28245 NP_037486.2 "F239I,N19S" "0,0" 29883 11049 dbsnp28252 NP_848934.1 "S9N,T433R" "0,0" 137964 7479 dbsnp28254 NP_940683.1 H162Y 0 157567 12383 dbsnp28255 NP_001077006.1 "D208E,F122L,K239Q,M198T,N252H,R164Q,R236W,R251C,R251S,V215L,V215M,V246L,V246M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 85002 10140 dbsnp28256 NP_001243803.1 "D302V,D332N,F17I,V324D" "0,0,0,0" 645402 5710 dbsnp28257 NP_060104.2 "H132D,L379V,S77C" "0,0,0" 54793 8826 dbsnp28263 NP_001907.2 "H205Y,T108N,V76A" "0,0,0" 1537 10260 dbsnp28264 NP_060334.2 "E513Q,G437E,I816V,N546Y,R524G,S755R" "0,0,0,0,0,0" 55656 2126 dbsnp28265 NP_775954.2 "I610V,S178T" "0,0" 286046 4688 dbsnp2827 NP_001230662.1 "A45S,C181Y,D85N,L176F,P126L,P126R,Q96E,R144C" "0,0,0,0,0,0,0,0" 7423 12816 dbsnp28270 NP_742034.1 C108G 0 157506 9893 dbsnp28274 NP_060590.1 R22Q 0 55156 11247 dbsnp28276 NP_510882.1 A49V 0 83877 12664 dbsnp28277;hgmd0613_1122 NP_003858.1 P29S 0 8822 12025 dbsnp28278 XP_002342892.2 "P99L,R104C,S23F,T88M" "0,0,0,0" - 13583 dbsnp28280;dbsnp28282;dbsnp28283 NP_001093862.1;NP_776247.3;NP_001093863.1 "G283V,Q224K,R145C,R145H,R167H,T204S" "0,0,0,0,0,0" 138046 10730 dbsnp28284 NP_001005504.1 "F44L,K310R,M81T,P58A,R89C,T279S,V106I" "0,0,0,0,0,0,0" 441308 9711 dbsnp28285 NP_689630.1 V96M 0 137695 11777 dbsnp28286 NP_003747.1 G9V 0 8667 9617 dbsnp28287 NP_001243801.1 "C284S,D160G,D3E,F29V,L91V,N332D,P23A,P23S,P253H,R34Q,S110F,S45C,T287A,T35S,Y334H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 392188 5710 dbsnp28290 NP_001185608.1 "R29W,W63L" "0,0" 862 4453 dbsnp28294 NP_004365.1 "N21S,P3S" "0,0" 1345 14856 dbsnp283 NP_001243694.1 "A115T,A74V,A92V,K133R,N268T,P321L,S207G,T118M,T197M,T198M,V132I,V325I" "0,0,0,0,0,0,0,0,0,0,0,0" 3601 9592 dbsnp2830 NP_663771.1 "A424D,P152A,P152L,Q159K,R209Q,T377A" "0,0,0,0,0,0" 220359 7187 dbsnp28309 NP_006549.1 "E30K,G305R" "0,0" 10656 7713 dbsnp2831 NP_001025036.2 "D302N,G272C,S239C,T124S" "0,0,0,0" 120237 9840 dbsnp28310 NP_004920.1 L10V 0 793 11469 dbsnp28312 NP_078889.1 C21S 0 79666 11300 dbsnp28316 NP_001158228.1 "E176K,S185L" "0,0" 444 3534 dbsnp28317 NP_001686.1 N30S 0 528 8947 dbsnp28318 NP_005089.2 G65S 0 9242 12842 dbsnp28319 XP_001715602.1 "L223F,T222A" "0,0" - 11336 dbsnp28320 NP_001028189.2 V11A 0 613209 14843 dbsnp28321 NP_001139745.1 P42Q 0 169200 8991 dbsnp28324;dbsnp28325 NP_004206.1;NP_936056.1 S128C 0 9166 12689 dbsnp28326 NP_001028190.2 P46Q 0 613210 14839 dbsnp28327 NP_079345.1 D335G 0 80139 5276 dbsnp28328 NP_005319.1 M367L 0 3037 5445 dbsnp28329 NP_001193776.1 V50A 0 100507341 14723 dbsnp28330 NP_001243800.1 "D332N,E91V,L102P,S151A,S45C" "0,0,0,0,0" 645836 5710 dbsnp28332;dbsnp28333;dbsnp28334;dbsnp28335 NP_001129147.1;NP_612445.2;NP_001129146.1;NP_001129148.1 G4V 0 114926 14569 dbsnp28337 NP_775790.1 T347P 0 157807 9576 dbsnp28338 NP_001180559.1 A83V 0 100132396 10859 dbsnp2834 NP_005519.2 "N198K,P70S,R84C,V235M" "0,0,0,0" 3338 12104 dbsnp28340 NP_758439.4 C217S 0 - 4322 dbsnp28341 NP_056008.1 V231G 0 23237 8674 dbsnp28342;dbsnp28343 NP_057180.1;NP_001035975.1 R3P 0 51123 14851 dbsnp2836 NP_291025.3 "D132N,G190V,I199T,I233M,I824V,L783V,N441H,P951A,Q261E,S273C,S345L,T534A,T789A,V736I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92105 2269 dbsnp28366 NP_001244904.1 R728Q 0 25792 2315 dbsnp2837 NP_001243353.1 Q632K 0 2977 3499 dbsnp28386 NP_001005236.3 "G299R,H153Y,I275V,I65M,I77S,L258V,M283T,N42K,P26L,Q271E,R20Q,R235C,R50H,R54H,S93F,S95G,T57M,T99A,T99S,V173F,V206D,Y257C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26737 9419 dbsnp28394 NP_001077072.1 D59N 0 5727 900 dbsnp28400 NP_001135389.1 "A1165S,A60S,A709T,C361Y,D681N,E814V,F352S,G1188C,H886R,I225L,L139R,M499V,P345S,R1083S,R1101H,R1320H,R69W,R778W,S130L,S152R,S999I,T189M,T238M,V1261M,V210M,V24I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259308 1099 dbsnp28401 NP_001138596.1 "D1109E,G336E,G86D,I160T,I578M,K784T,L712F,P1069L,P419L,P742L,Q310H,R350W,R575T,R85T,S863T,T711M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 441452 1046 dbsnp28406 NP_056040.2 "A1747T,A1977T,A2123T,A2184T,A2573T,A2687P,C1506R,D540A,D90N,E2512K,E982K,G1143V,G1946D,G929R,H1708N,H2054R,I2251L,I240M,K928E,L2365F,L378V,M745I,N1423K,N2721S,N817D,P1912A,P2464L,P471L,Q2115E,Q2406H,R2555S,R2569G,R2904I,S1281F,S1367F,S1788F,S193C,S2348L,S2439I,S2511P,S2618G,T1004M,T1972A,T2739M,T815I,V1494I,V912L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158471 136 dbsnp28413 NP_569726.2 "G253D,W208C,Y189C" "0,0,0" 27433 10365 dbsnp28416 NP_001159752.1 E211D 0 4593 2776 dbsnp28419 NP_005050.2 C107Y 0 6019 13258 dbsnp2841;dbsnp2842;dbsnp2843 NP_005247.1;NP_001137302.1;NP_808221.1 "E76D,P214S,P87A" "0,0,0" 2620 4126 dbsnp28426 NP_001035502.1 R7K 0 138724 1784 dbsnp28429 NP_002068.1 "A340V,A557V,L326F,N220H,N64S,Q337E,R18S,R456C,R763W,T294R,T382A,V247E,V480L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2800 3462 dbsnp28431 NP_001116295.1 "D452N,F183Y,F474L,G434R,L395M,Q162K,R153Q,R87C" "0,0,0,0,0,0,0,0" 9328 6201 dbsnp28435 NP_001159609.1 "A388T,A411T,E330G,E448K,K60R,M457T,Q1018E,R597H,R70H,S86N,V298I" "0,0,0,0,0,0,0,0,0,0,0" 645961 1046 dbsnp28441 NP_002163.2 "A163V,A98V,F108S,G128E,I77V,K107Q,K144R,L175F,M84I,P133A,S174F,T132I,T29A,V167A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3448 13072 dbsnp28449 NP_001184027.1 "A114S,C132S,G184R,G201R,G5A,H211Y,K72E,M102L,R115H,R191G,R61C,R88H,T118A,T160A,T160S,V206I,Y228F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5646 10773 dbsnp28452 NP_060891.3 "A125T,A387V,E173G,E905K,G261V,K843N,L253S,L253W,L499R,L641F,L90V,P241T,Q85H,Q887R,R631Q,R658W,R668H,R839C,R877Q,R883Q,T479I,V425A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55357 2444 dbsnp28456 NP_997698.1 "A394V,D565G,D615N,D703N,D709E,D994N,G1742S,R1719H,R194H,V1423I,V1453F" "0,0,0,0,0,0,0,0,0,0,0" 20 256 dbsnp28463 NP_001012733.2 "G177R,L63P" "0,0" 414318 12300 dbsnp28464 NP_001185585.1 "A117T,A45P,A694V,A739V,C153Y,D129H,D523E,E470Q,E697D,E93G,E961K,K371Q,K708E,L650S,N459I,P109L,P20L,P460L,P489T,P715S,R198Q,R198W,R249Q,R394C,R909H,S606A,S774L,T161M,T644K,V158M,V793M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11217 1698 dbsnp28467 NP_009134.1 "A259T,A836V,A881V,C295Y,D271H,D665E,D73G,E1103K,E235G,E612Q,E839D,K513Q,K850E,L792S,N601I,P251L,P602L,P631T,P857S,Q12R,R1051H,R340Q,R340W,R391Q,R536C,S748A,S916L,T303M,T786K,T93M,V300M,V935M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 445815 1698 dbsnp28469 NP_775791.1 "E40D,W140G,W140R" "0,0,0" 157927 13896 dbsnp28472;hgmd0613_1751 NP_056219.3 "A443S,A64D,A829T,G255D,G701R,L793V,M461L,P485L,P676R,P806L,R223C,R223H,R332Q,R350W,R379W,R423P,R663K,R728H,R837H,R882C,R882S,S523N,S648Y,T77S,T813M,T825S,T871M,V359I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 25861 2577 dbsnp28481 NP_000746.2 "A624P,D128E,F432L,G164A,G575S,M22T,M534T,P349S,P349T,R273W,R277H,T291A,Y110C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1384 4832 dbsnp28483 NP_001011703.1 "I117M,R153L,R164Q" "0,0,0" 89853 10427 dbsnp28485 NP_057258.3 "A219V,A85G,A85V,C391S,E101K,G279E,G298S,G368S,L587F,P165Q,P575T,Q187E,Q228H,R300H,R418C,R429Q,R485C,R495C,R495H,T537I,V34G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51148 4840 dbsnp28486 NP_006561.1 "I164M,N3S,P282L" "0,0,0" 10670 9116 dbsnp28488 NP_001163887.1 "K16E,K2N,R24H,V15L" "0,0,0,0" 9414 1355 dbsnp2849 NP_000833.1 "D115E,E473Q,T453M,V709I,V709L,V842M" "0,0,0,0,0,0" 2915 1387 dbsnp28492 NP_001164101.1 H992R 0 9414 1355 dbsnp28494 NP_114401.2 "A314T,D9E,F207L,H113R,T787A,V171G" "0,0,0,0,0,0" 23731 2554 dbsnp28503 NP_001186162.1 "H109R,K10R,L45Q,R104C,S40L,S67L,S93P,T74I" "0,0,0,0,0,0,0,0" 100505478 14407 dbsnp28507 NP_998839.1 R198Q 0 7169 11184 dbsnp28508 NP_000596.2 "L79F,M171I,R46K,S34N,T109N" "0,0,0,0,0" 3440 13072 dbsnp2851 NP_076419.2 "G41D,M194I,M1K,R157H,T71M" "0,0,0,0,0" 65987 11807 dbsnp2852 NP_001186135.1 "C3W,G80A,H177Q,P6L,Y44C" "0,0,0,0,0" 390243 11758 dbsnp28521 NP_001177411.1 "A565T,D1049N,D1049Y,D1511N,D1699E,E1079A,E1414Q,E1548K,E1726K,F1009I,G1090S,G1275D,G1647E,G970R,K1320E,K1320R,L1107V,L1207P,L1426F,M1491R,N497K,P1201S,P1327L,P1344A,R1366H,R1565W,R1580Q,R31Q,R486H,R500C,S1458F,S1532N,T1343M,T1427I,T1498K,V1302I,V998M,Y822H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5125 515 dbsnp28524 NP_000598.2 "A34T,D164N,E53K,K170R,V144F" "0,0,0,0,0" 5004 12935 dbsnp28525 NP_219500.1 "P28T,T83A,V112L,Y109H" "0,0,0,0" 90871 14450 dbsnp2853 NP_001005195.1 "A118V,I12L,M97K,P20L,S234P,S238N,S274F,T35M" "0,0,0,0,0,0,0,0" 219858 9775 dbsnp28532 NP_001231855.1 "D502N,H77R,K158N,L220S" "0,0,0,0" 9128 6270 dbsnp2854 NP_055992.1 V257G 0 23220 4916 dbsnp28540 NP_001170782.1 T2I 0 140803 415 dbsnp28548 NP_001140166.1 S1037N 0 23081 1871 dbsnp2855 NP_848665.1 "A392V,R120L,R152Q" "0,0,0" 349667 8159 dbsnp28554 NP_001161812.1 "A199D,C445S,D669N,E185K,E411G,F216V,I407V,I427V,I633V,N259S,P31R,P613L,Q179R,Q436R,R159H,R393C,R508G,S42T,T128P,V478M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158219 4253 dbsnp28564 NP_001155280.1 "A188V,A285S,A630T,A881T,C843G,D123G,D152H,G443R,G582R,G651D,G8E,H266D,L82Q,P158S,P808S,R512Q,R514H,R518H,R562K,R690Q,R832H,R833C,R836G,T566I,V440M,V577L,V668M,V724I,V741M,V750M,V788M,V887M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 2272 dbsnp28565 NP_060671.3 "E118D,V190A" "0,0" 54662 8592 dbsnp2856;dbsnp2857;dbsnp2858;dbsnp2859 NP_004145.1;NP_789766.1;NP_789767.1;NP_789768.1 "E22K,R103H,R266H,R309C,T61M" "0,0,0,0,0" 5031 10203 dbsnp28571 NP_076918.1 "A137V,A163G,G23D,V10A" "0,0,0,0" 3439 13072 dbsnp28577 NP_001230673.1 "R463C,T475M" "0,0" 2176 5715 dbsnp28581 NP_671513.1 R177W 0 10280 12469 dbsnp28585 NP_666023.1 "A79T,E68D,H23Q,I228V,L182V,N2T,S117Y,W32L" "0,0,0,0,0,0,0,0" 1514 10061 dbsnp2860 NP_620142.2 "E217K,M5V,V20I" "0,0,0" 119710 12513 dbsnp28602 NP_065944.2 "A323T,A59T,D1495N,D1573N,E1515V,E1559K,E1622K,E698G,E738K,E777K,E778K,F1175L,F708V,G1289A,G3D,G759R,H885D,I1072L,I1679V,K1085R,K461N,K786E,K928E,N1037D,N1387K,N390K,N906H,P1265L,P162H,P409R,P9R,Q173R,Q671H,Q965E,R1023W,R1034C,R1034H,R1360P,R1360Q,R1397C,R1401H,R1610H,R223H,R442H,S1304L,S183N,S856C,T1123M,T402S,T52P,V1176I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100499483 641 dbsnp28606 NP_001245261.1 C7R 1 2592 8993 dbsnp28609 NP_000683.3 "A296P,A86V,D276N,L216V,M191V,P215S,P55L,R107L,R114W,R18C,R390C,R84Q,R88H,T202I,T325N,T480M,V176I,V253M,V470A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219 6337 dbsnp28619 NP_001128250.1 "A61V,P325S,S67Y" "0,0,0" 5090 7886 dbsnp28636 NP_001244958.1 W14R 0 2934 3337 dbsnp28640 NP_061829.3 "L79F,N35D,P159L,R41W,V104I" "0,0,0,0,0" 11092 12493 dbsnp28643 NP_005555.2 "A18V,G9V,I192M,L6P,P121S,T124M,V128I" "0,0,0,0,0,0,0" 3934 13025 dbsnp2865 NP_001041674.1 "L335F,S320N,S324L,V316I" "0,0,0,0" 50863 9546 dbsnp28650 NP_001239263.1 "A30V,R75W" "0,0" 10044 2831 dbsnp28654 NP_001167617.1 G305D 0 4010 8482 dbsnp28659 NP_001164212.1 "A280E,E374D,G502D,K355N,L126F,L470R,M419I,P172S,P457S,R259Q,R405Q,S137C,S34A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 441457 2725 dbsnp28662 NP_777593.2 "C29F,E193G,P260R,R203H,R267Q,R62Q,S231F,V138M,V45F,Y69C" "0,0,0,0,0,0,0,0,0,0" 254295 10948 dbsnp28668 NP_996803.2 "A209T,A22S,A544T,E331K,E69K,G1037S,G540A,G742S,G955D,H233R,H595Y,M113V,P408S,P558L,R1095W,R191Q,R282H,R547Q,R661S,R76Q,R961C,S317F,S427L,T132I,T771S,V1073M,V39M,V575I,V780G,V950M,W170G,W21C,W908G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158056 1371 dbsnp28678 NP_001230741.1 "L2215H,L2215R" "0,0" 774 292 dbsnp2868 NP_620130.2 "C467S,D202N,D653Y,E182A,G612C,I413T,L518F,N342S,N49S,N79K,Q233H,Q654R,R445W,R571K,R58W,S146F,V106M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91801 4438 dbsnp28682 NP_848564.2 "A138S,G141V,R119Q,R139Q,T69M" "0,0,0,0,0" 138307 13897 dbsnp2869 NP_004411.2 "G603S,L144V,P320T" "0,0,0" 1850 4850 dbsnp28696 NP_001129426.1 "A180S,A180T,L156V" "0,0,0" 83549 11337 dbsnp28706 NP_116207.2 "D204N,M257I,M257T,N173D,R112M,R268W,R321C" "0,0,0,0,0,0,0" 84904 10017 dbsnp28707 NP_116188.2 "E260K,E40G,N238I,R114C,R117H,R121H,R224C,R224S,R97W,V199A,V27M,Y61C" "0,0,0,0,0,0,0,0,0,0,0,0" 84885 11544 dbsnp2871 NP_055127.2 "P148L,R91W,V253M,V264A,W59R" "0,0,0,0,0" 23584 10224 dbsnp28710 NP_001172024.1 "C50R,D127N,M151L,M151V,M83T,P166L,V164A" "0,0,0,0,0,0,0" 83543 13450 dbsnp28715 NP_001073867.1 "A1075T,A789V,A851T,I1072V,I1447V,L956F,N876S,P1466L,R1883C,R934T,T1380M,T1901M,T644S,T895A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23392 417 dbsnp28716 NP_068800.2 "A253T,D449G,G532S,I227V,L203I,M1I,P356H,Q462E,R334H,R516Q,S100L,S513R,T158M,T275M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5239 5413 dbsnp28722 NP_001798.2 "I488T,K468E,T482I,V159I" "0,0,0,0" 1056 3562 dbsnp28724 NP_001138668.1 "A367V,A978S,C398R,D144E,D712G,E258K,F408L,H1223R,L302F,N352D,P1102L,P1243L,P356T,P420L,P88L,P88R,Q1266K,Q353R,R282W,S21F,T22I,V327I,V338F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389730 1046 dbsnp28735 NP_060208.2 "A649G,A649V,D553E,E1126D,E291D,H848Y,I1349M,I972V,M400T,Q953R,R562C,R66W,R700W,T284A,T695I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54875 972 dbsnp28736 NP_078994.3 "D624G,E382Q,G684D,P573S,R527C,T513M" "0,0,0,0,0,0" 55684 3787 dbsnp28742 NP_667345.1 A814V 0 4799 1654 dbsnp28749 NP_001229298.1 "A152T,E147K,G136R,I58M,P192L,R211T,R95W" "0,0,0,0,0,0,0" 11094 12286 dbsnp28750 NP_001092275.1 "A227T,A742P,D545E,D655A,D756Y,H736Q,I546V,I606V,K822T,L128F,L744I,Q228K,R739H,S689L,T804R,V745E,V761I,W743C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 728747 3075 dbsnp28751 NP_001012415.2 "A328V,L306M,M123I,P10S,P269S,R14T,R188G,R75H,S174L,S223C" "0,0,0,0,0,0,0,0,0,0" 402381 8869 dbsnp28755 NP_060056.1 E169D 0 11094 12286 dbsnp2876 NP_065696.1 "C112W,D221E,R160W,R67C,V146I" "0,0,0,0,0" 56675 12105 dbsnp28773 NP_001182061.1 H166Y 0 1029 13605 dbsnp28775 NP_001239124.1 "C114Y,T133A,V154A,W131C" "0,0,0,0" 84688 11647 dbsnp28784;hgmd0613_1114 NP_003820.2 "E702K,E702V,G109C,G2000R,G782R,I940V,K1734R,K799E,L1936V,L347F,L351F,L619I,N71D,P1158L,P1298L,P1299L,P1382L,Q1914L,R1781S,R1879K,S1194R,S732T,S92L,T1604A,T639P,T678S,T840A,V1880F,V659I" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8777 390 dbsnp2879 NP_203748.1 "D852A,E161D,T746M" "0,0,0" 85463 2700 dbsnp28791;dbsnp28792 NP_001129471.1;NP_055621.1 "E423A,E806K,H626Y,M178I,P208H,P473L,R1259C,R872Q,S1295R,T40K" "0,0,0,0,0,0,0,0,0,0" 9853 804 dbsnp28796 NP_659488.2 "A82T,D133H,Q114R,Q186H,R85C" "0,0,0,0,0" 138065 13135 dbsnp288 NP_001231902.1 "D629N,E827K,F561L,L557F,N879T,R700H,R700L,S267N,S432F,S524L,V726I" "0,0,0,0,0,0,0,0,0,0,0" 8829 2475 dbsnp2880 NP_569074.2 R264T 0 53840 2945 dbsnp28807 NP_055975.1 "A155V,A7E,D249N,G159V,L105F,T89I,V472M,V55A,W18R" "0,0,0,0,0,0,0,0,0" 23203 6220 dbsnp28808 NP_055681.1 "A1018T,A1206V,A751G,A993T,D1330N,D1897N,D733E,F1858L,F487L,G208R,G767R,G887E,H120D,I2223V,P1116L,P16S,P207S,P251R,P272L,P321L,P343S,P539H,P794L,P929L,R1039C,R1290T,R2111H,R628C,S2062L,S895G,T1001I,T1407A,T169M,T2058M,T7A,T997A,V1062A,V41M,Y748S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9919 281 dbsnp28809 NP_002188.1 "A395D,D29Y,E390D,G486R,K580Q,K644T,R168W,R758Q,R805C,T208A,V123I,V55M" "0,0,0,0,0,0,0,0,0,0,0,0" 48 2261 dbsnp2881 NP_060053.2 "D331V,E118G,K314R" "0,0,0" 54765 9818 dbsnp28811 NP_054729.3 "A1147T,A154V,A823T,D1152E,G685R,G740D,I531T,I766V,L1141M,M912I,Q911E,R1217Q,R1238H,R606Q,R733Q,R814H,R839Q,R931C,R958S,S1099G,S1237I,S257T,S626L,T1083P,V1098I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23245 1083 dbsnp28813 NP_981948.1 "D210N,G147S,G228C,G30E,I208T,K19T,N165K,T137A,V112I" "0,0,0,0,0,0,0,0,0" 286343 12305 dbsnp28814 NP_001231681.1 "A375V,A698V,D733E,E861K,F1008L,F734S,H737R,K809E,M817T,N374I,N774S,P954S,R499C,R499H,R572H,R66K,W455R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 441459 2069 dbsnp28817 XP_001726994.1 "A1360G,A1430P,A2263V,A2741E,A2926V,A3383T,A842V,C3096Y,D116H,D3388A,D574A,D850E,E1335V,E3053Q,E351K,E449K,G2037S,G2507S,G279R,G2801E,G3149R,G3268A,G340S,G3460S,G3680S,G978S,H3496R,H536Q,H867R,I2805T,K2330N,K256R,K5E,M1723R,M1I,P1076L,P1497S,P2127L,P2430S,P2964Q,P3315A,P566R,P701R,P788S,Q663K,R1036W,R105Q,R1801Q,R2149W,R2268Q,R2384L,R2425Q,R2425W,R2780S,R2877H,R2923H,R2961C,R2961H,R2994H,R3409C,R3560H,R3602C,R576W,R690W,R832W,R899S,R980W,S1719W,S1771R,S1901R,S2190Y,S458L,T1475M,T1623A,T1910I,T2362M,V2194M,V2422M,V3238I,V355M,W513R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 85 dbsnp28820 XP_002342997.1 "A522T,A773T,A780V,A94V,D356N,N275S,N592S,P259L,P290L,R174H,R354C,R538W,R750Q,T168M,T347M,W789C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 15 dbsnp2883 NP_057506.2 "K108E,T25M" "0,0" 50862 12329 dbsnp28834 NP_001004453.2 "A40V,C150Y,F104L,F261C,G234R,H132P,H132R,H245Q,I215T,I290M,M102T,M223I,M278I,P48L,Q23K,R166C,R221Q,R273W,S195T,T75R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 392390 9419 dbsnp28838 NP_001231890.1 M1I 0 257019 5169 dbsnp28839 NP_001231891.1 H30Y 0 257019 5169 dbsnp2884 NP_003368.1 "G152S,P168S,R148H" "0,0,0" 7423 12816 dbsnp28840 NP_945184.1 "D128E,E98K,E98V,G58E,G77R,I102T,L12F,S14P,V13A,V21M,V37M,V96L" "0,0,0,0,0,0,0,0,0,0,0,0" 158062 13672 dbsnp28843 NP_001035878.1 P127L 0 169792 2434 dbsnp28846 NP_060395.4 "A1036V,D960G,E1058G,E786K,G978R,I1176V,I141L,I231V,I5L,I674T,K1068T,L1185F,N1593S,P123T,P1483S,P1657A,Q296R,R639H,S557C,T646M,T914I,V1064A,V1434I,V938G,W8C,Y259H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55667 668 dbsnp2885 NP_001001480.2 "G110V,G114V,P162H,S157C" "0,0,0,0" 439915 11311 dbsnp28854 NP_001007472.2 "A1645V,E1481Q,E839D,G1319D,G1536R,G772V,G838R,I1400V,L11V,M651I,N1618I,N1707T,R1262C,R1275Q,R1333C,R1605C,R1670Q,R1692K,T1628I,T1666I,V357M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80036 606 dbsnp28855 NP_001177157.1 "P150H,R53W,T22R" "0,0,0" 643596 13808 dbsnp28858 NP_001004352.1 "F113L,G56E,I122T,K31N,P33S,R91T,S109I,T22M" "0,0,0,0,0,0,0,0" 100506422 14077 dbsnp2886 NP_001005491.1 "A45T,A87P,H43D,M28T,M31T,M97I,P255L,Q79K,R113H,R223G,T141I,V192I" "0,0,0,0,0,0,0,0,0,0,0,0" 282770 10841 dbsnp28861 NP_002186.1 "D131N,F35L,G80S,I108T,I12V,L28V,L59P,M1T,P64S,Q77H,R111C,R29K,R6W,T133N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3641 14109 dbsnp28865 NP_115941.2 "A434T,A788T,A851V,D745E,G330W,H997N,K342R,L1017M,N969S,R938H,S31F,S432L,S785A,T876M,V600I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 153090 1204 dbsnp28867 NP_001171664.1 "R181Q,R181W" "0,0" 23245 1083 dbsnp28869 NP_001003936.1 "A18V,G19R,L65P,N60H" "0,0,0,0" 255220 14294 dbsnp28870 NP_653254.1 "A486T,A535S,M465V,P484L" "0,0,0,0" 138151 5317 dbsnp28878 NP_115683.3 "G165S,H324Y,I231M,K201R,S120W,S136Y,S177G,S97N,V219A" "0,0,0,0,0,0,0,0,0" 84267 9894 dbsnp28879;dbsnp28883 NP_001238950.1;NP_001238947.1 "L48M,R103W" "0,0" 27433 10365 dbsnp28880 NP_001238952.1 A60V 0 27433 10365 dbsnp28887 NP_001034881.1 "A114T,H92Q,L87H,P83L,R36W,R54H,R62Q,R62W,R63G,R63W,R74C,R94H,V79I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 646962 14483 dbsnp28889 XP_003403491.1 "D75E,G88D,L223S,R128Q,R266Q,R333W,W28R" "0,0,0,0,0,0,0" - 9104 dbsnp28891 NP_006639.3 "A1062T,A1074S,A1371V,A1437E,A1437V,A1850T,A2188V,A920P,A920T,D1601E,E1325K,G2034R,G680S,G908A,H1763Y,H758N,K1864R,M636V,M795L,P1046L,P1097S,P1128L,P1409Q,P1650S,P1683H,P1932R,P647L,P702L,P787L,P849T,P865S,Q1112H,Q1365P,R1849W,R2184C,S1355L,S2030N,T314I,V1253I,V1681A,V2107I,V828M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65268 304 dbsnp28892 NP_001231826.1 "G482S,H92R,N115H,Q130P,S516N,T335R,T545A" "0,0,0,0,0,0,0" 9991 5728 dbsnp28898 NP_001073966.2 "L299F,R544Q,S112A,S503P" "0,0,0,0" 1955 5121 dbsnp28899 NP_071935.1 "A223V,A288T,D192H,I175V,P402L,R22K,R383K,S269N,V116I,V356M" "0,0,0,0,0,0,0,0,0,0" 64425 6987 dbsnp2890 NP_001193719.1 "G102S,Q83R,R435L,S111L,V454I" "0,0,0,0,0" 84000 5592 dbsnp28903 NP_006079.1 "D327E,R162S" "0,0" 10383 7569 dbsnp28904 NP_001121700.2 "A187S,G557S,G624S,K583R,P281A,P419L,P420L,P421S,R446W,R525W,R527W,R545C,R545H,R704H,S322N,S571C,T567I,V490M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286262 3963 dbsnp28905 NP_057119.2 "A142T,E161D,N234S,R205Q,R240C" "0,0,0,0,0" 51117 11586 dbsnp28907 NP_036548.1 "A11E,A426T,D132N,D276E,D584G,D662N,I291M,I853V,L160V,M388L,N926S,R745C,S1030N,T565S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26953 1676 dbsnp28909 NP_001230132.1 C54Y 0 26953 1676 dbsnp2891 NP_001005282.1 "C178Y,C214R,I125V,K226M,K79R,N171S,N205K,P94L,R121Q,R121W,R19H,S141F,T6M,V296I,V38M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219484 10525 dbsnp28914 NP_001013011.2 "D148E,G171R,L151F,R54S" "0,0,0,0" 401546 12158 dbsnp2892 NP_114410.1 "C6R,F53L,F69L,N94H,W15L,Y42F" "0,0,0,0,0,0" 83935 14261 dbsnp28928 NP_652760.2 "A22P,C110W,C85Y,Q77H,R32W,R64W,R90C,V87I,Y106C" "0,0,0,0,0,0,0,0,0" 5998 1425 dbsnp28933;dbsnp28935 NP_001164668.1;NP_001164666.1 "G131V,Q335H,S26L" "0,0,0" 1993 8933 dbsnp28936 NP_001026859.1 "A782G,D281N,D755G,L575F,R295G,S482L" "0,0,0,0,0,0" 9373 3255 dbsnp28940 NP_056112.1 "D130N,H228Y,P349R,R29P,S391R" "0,0,0,0,0" 23349 8593 dbsnp28941 NP_001034484.3 "A252T,E178D,E53Q,F20L,G155R,H136R,H249D,I220V,R185G" "0,0,0,0,0,0,0,0,0" 55064 8752 dbsnp28942 NP_001193486.1 "A566T,A811T,D559N,E1107G,E58Q,G951E,H243Q,H94N,I1276M,K111R,N1167S,N418K,Q1332P,R392M,R444T,R598H,S1135R,S446Y,S455R,S574G,T686M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57589 951 dbsnp28945 NP_004116.2 V33M 0 552891 9436 dbsnp28946 NP_001015882.2 V33M 0 548645 9436 dbsnp28947 NP_937829.3 E36K 0 23245 1083 dbsnp28954 NP_001001919.1 "D302G,F220S,G43D,I135N,I47V,I78L,M219R,N317K,R165Q,S217F,V247A,W166R" "0,0,0,0,0,0,0,0,0,0,0,0" 138804 9738 dbsnp28957 NP_001180260.1 "R476H,T475P,V511M" "0,0,0" 84909 3094 dbsnp28963 NP_079487.2 "H244R,Q103R,S186L,S47T,V9L" "0,0,0,0,0" 80318 9288 dbsnp28964 NP_001135759.1 "A673T,G593W,L738P,P560L,R713K" "0,0,0,0,0" 10507 2819 dbsnp28966 NP_006359.3 "C230S,D289E,G177R,G177S,K132E,L120P,P344L,Q293H,R119G,R155Q,R168H" "0,0,0,0,0,0,0,0,0,0,0" 10488 8693 dbsnp28967;hgmd0613_1972 NP_065995.1 "A453E,A474T,E499K,E73K,G220D,G316R,G423S,M111V,M549I,N218S,R399P,R514C,R518W,R734H,R780C,S109N,T346M,V272A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57704 2451 dbsnp28973 NP_931045.1 "A104T,A43T,A5V,R297C,T211S,T60P" "0,0,0,0,0,0" 203245 10232 dbsnp28976 NP_694880.1 R137Q 0 8721 13953 dbsnp28981 NP_001034681.1 R434W 0 26206 6652 dbsnp28982 NP_758516.1 "C165R,C165Y,D37A,D37N,G200S,G468R,P163A,P421L,R349H,S110G,T330S,T493M,V116I,W501S,Y272C,Y272H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26206 6652 dbsnp28983;hgmd0613_1967 NP_065873.2 "E1228K,E1232K,E576K,E848G,G20A,L847V,M174I,R1214Q,R643Q,R910Q,T1229A,T26I,T737M,V213I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57582 1326 dbsnp28984 NP_001007564.1 "D275A,D275E,D275N,D276G,D276Y,G173V,G197V,Q199R,R216Q,R277C,R277G" "0,0,0,0,0,0,0,0,0,0,0" 347252 11316 dbsnp2899 NP_065767.1 "A536G,D272E,I321V,K317R" "0,0,0,0" 57476 3722 dbsnp28992 NP_067632.2 "P326A,V12E" "0,0" 59335 9269 dbsnp28993 NP_659401.2 "K11N,V234A" "0,0" 158234 10499 dbsnp28994 NP_071738.1 "F9L,G116D,L31I,P56L,S43P,V26I" "0,0,0,0,0,0" 152007 13850 dbsnp2900 NP_444510.2 "A140T,A204S,A220T,D175N,L77R,L83F,P85S,R16W,R92C,T42M,V190M,V251A" "0,0,0,0,0,0,0,0,0,0,0,0" 113746 11827 dbsnp29002 NP_775292.1 "H110R,L94F,R101Q,S251G,S582N" "0,0,0,0,0" 8013 4728 dbsnp29004 NP_775291.1 I423L 0 8013 4728 dbsnp29005 NP_004226.3 "A15S,A79G,H287Y,L88M,N41S,N87D,P238L,T114N" "0,0,0,0,0,0,0,0" 9314 6425 dbsnp29010 NP_054862.1 "A5P,D49H,E164K,P146R,R186S,V269E" "0,0,0,0,0,0" 29126 11111 dbsnp29013 NP_001164673.1 "G18V,H353Q,K118Q,M282T,N234S,N350S,N393K,R256W" "0,0,0,0,0,0,0,0" 51271 5613 dbsnp29016 NP_057098.2 "V286L,V286M" "0,0" 51104 9399 dbsnp29019 NP_001017969.2 "C70S,G1657R,H1384Q,K1734T,L1382S,L1699R,L1704F,M1474R,M1474T,N1486S,P871L,R1783W,R506Q,R845S,S1277L,S1330F,T1389I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158358 376 dbsnp2901;dbsnp2902 NP_001245348.1;NP_065980.1 "G15S,I528V,N3T,V457I" "0,0,0,0" 57689 3942 dbsnp29020 NP_113620.1 L262P 0 83549 11337 dbsnp29026 NP_995581.1 "A119V,C240Y,G278R,I273F,I273N,K235N,L105F,L221R,L55I,M194I,N285S,P129L,R54C,T146M,V29I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26248 9738 dbsnp29028 NP_008936.2 "S165T,T327A,V717I" "0,0,0" 7091 3429 dbsnp29029 NP_940871.2 "D14E,D77Y,E2G,G86S,R89W,V134L" "0,0,0,0,0,0" 254956 13710 dbsnp2903 NP_060219.2 "A1039S,A1057V,A342V,D683N,M862V,P214A,R415H,R422Q,T389A,T981I,Y501C,Y78C" "0,0,0,0,0,0,0,0,0,0,0,0" 55626 1400 dbsnp29036 NP_689635.3 "F527L,G102A,H582L,I280L,L623Q,M1I,M379V,R122C,R14C,R248P,R428W,R719Q,R84C,T798I,V395L,V430I,V613D,V613I,V656I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 138639 3160 dbsnp2905 NP_705842.2 "D253N,E38K,F125C,I296V,M309I,P299L,R142Q,R222C,R224H,S147T" "0,0,0,0,0,0,0,0,0,0" 374407 10511 dbsnp29053 NP_702913.1 "A752S,A75P,A79T,H441R,L115F,R186H,R244K,R855C,R887H,S66N,S816N,T301M,T774S,V100I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4957 2651 dbsnp2906 NP_001004464.1 "A159T,A18V,C140Y,I213M,I213V,K233R,L25I,M13T,N171S,P19Q,R121H,T196I,V84E,Y122C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219869 10636 dbsnp29060 NP_892019.2 "A216T,A53P,G183R,H195R,P189R,P219S,V151A" "0,0,0,0,0,0,0" 360203 10688 dbsnp29067 NP_006677.1 "D128E,G25C,H145Q,I119V,M1T,P266L,P69L,R44M,T346S,V178M" "0,0,0,0,0,0,0,0,0,0" 10880 7864 dbsnp2907 XP_938781.2 "A19T,H115R,K77T,P98L,S50T,S50Y" "0,0,0,0,0,0" - 14417 dbsnp29070 NP_443076.2 "A500V,G356S,R206C,S455P,T190M" "0,0,0,0,0" 89891 6050 dbsnp29071 NP_003683.2 "H104Y,I284F,P35H,R75I" "0,0,0,0" 8577 7517 dbsnp29074 NP_848519.1 C32F 0 23552 9770 dbsnp29076 NP_001164111.1 R219G 0 23552 9770 dbsnp29079 NP_002164.1 "A133P,D106E,D55E,D95H,H49P,I132T,I47V,L116M,T124I,V65E" "0,0,0,0,0,0,0,0,0,0" 3449 13072 dbsnp2908 NP_001005160.1 "E193K,H134Y,I158T,I187V,I306V,K239E,P2L,Q233R,R303C,Y125C,Y125F,Y274H" "0,0,0,0,0,0,0,0,0,0,0,0" 390054 10296 dbsnp29080 NP_001093581.1 "N41Y,P50H,P6L,R112Q,R86W" "0,0,0,0,0" 286238 14522 dbsnp29081 NP_001189332.1 "E54K,I109T,N71S,N94I,R156C,V111I,V123A,V174I,V388M" "0,0,0,0,0,0,0,0,0" 140459 8146 dbsnp29083 NP_001139110.1 "D180N,M103I,S391L,T528M,V8A" "0,0,0,0,0" 26086 4236 dbsnp29084 NP_056412.4 S391L 0 26086 4236 dbsnp29085 NP_114125.1 "A101S,E99D,K118R,N89S,S64I,Y145C" "0,0,0,0,0,0" 83856 6141 dbsnp29087 NP_997530.2 "A101S,E99D,N89S,S64I" "0,0,0,0" - 6141 dbsnp29088 NP_060193.2 F326C 0 54863 8096 dbsnp2909 NP_001106212.1 "N226I,N470S" "0,0" 3746 3540 dbsnp29090 NP_009140.1 "N101H,R109L" "0,0" 11224 14374 dbsnp29093 NP_001243628.1 "L218F,R278C,S126G" "0,0,0" 441476 8816 dbsnp29097 NP_001177317.1 "R30H,R41K,V38A" "0,0,0" 10020 3589 dbsnp29105 NP_694590.2 "A245V,M102T,N264D,P263R,P267L,V183L" "0,0,0,0,0,0" 203197 9871 dbsnp29119;hgmd0613_1758 NP_056352.3 "A253T,L509V,R391K" "1,0,0" 26012 6127 dbsnp2911;dbsnp2912;dbsnp2913;dbsnp2914;dbsnp2915 NP_001135991.1;NP_942144.1;NP_001135992.1;NP_001135993.1;NP_071357.2 "C194S,C36Y,H470N,I403V,I433M,I530V,K206E,L104I,P429T,P489S,Q265K,Q451E,R209H,R230S,T367M,T371S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63901 5013 dbsnp29122 NP_005763.3 "C104W,G162R,L105F,L282R,L372F,L80P,R157L,R329Q,V129I,V198L,V91I" "0,0,0,0,0,0,0,0,0,0,0" 10171 9153 dbsnp29124 NP_115679.2 "K91I,R306H" "0,0" 84263 8225 dbsnp29131 NP_001135885.1 "M9I,S154N,S24L,T152I" "0,0,0,0" 286223 12929 dbsnp29137 NP_001128476.2 "A16T,D75E,G256S,P240A,R319C,T448P" "0,0,0,0,0,0" 25822 7375 dbsnp29138 NP_006191.2 E883K 0 5125 515 dbsnp29139 NP_001001670.1 "A654G,E91K,F1185L,H252Y,I289S,I673M,K421R,K440T,P1148L,P176H,P196T,P655T,P703S,Q569R,R189P,R189Q,R189W,S938Y,T1172I,V45M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389763 758 dbsnp29147 NP_001243622.1 M1I 0 9833 4581 dbsnp29154 NP_005285.1 "F212V,I206T,R283C,S164A,V115I" "0,0,0,0,0" 2844 9403 dbsnp2916 NP_619651.3 A191T 0 192134 8918 dbsnp29165 NP_058544.3 "D292V,E497K,P431L,S224N,T408M" "0,0,0,0,0" 53358 5219 dbsnp2917 NP_054758.2 "G106R,I262T,S119I,S146R,Y191C" "0,0,0,0,0" 28970 11588 dbsnp29171 NP_036329.3 "A490P,A490T,E836K,H222R,H549Q,K598R,Q99E,R169K,R981C,S931N" "0,0,0,0,0,0,0,0,0,0" 23637 1823 dbsnp29172 NP_060216.2 "H876Y,I267V,M843V,N880S,R617H,R838G" "0,0,0,0,0,0" 54881 2440 dbsnp29176 NP_612433.1 "A503T,M266T,M293I,Q323E,R330C,T434S,V62L" "0,0,0,0,0,0,0" 113220 6437 dbsnp2918 NP_085131.1 "A113P,D823N,L31V,L497I,P464S,P761L,R756H,V709A" "0,0,0,0,0,0,0,0" 80789 2030 dbsnp29185 NP_702918.1 P7L 0 4957 2651 dbsnp29188 NP_077324.1 "A106T,F93V,H165R,N105S,R145H" "0,0,0,0,0" 11258 13254 dbsnp2919 NP_443107.1 S21R 0 112936 9995 dbsnp29191 NP_075052.1 "A116T,A271T,D351V,D44E,G319D,G92S,I289S,K46N,L118S,L128I,N90Y,S326P,T282M,T86S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64922 9208 dbsnp29194 NP_001229264.1 "A41T,P153T" "0,0" 26468 8765 dbsnp29197 NP_060389.2 "A98V,I23T,I247T,R80Q,S209T,V94I" "0,0,0,0,0,0" 55014 10824 dbsnp29198 NP_060302.1 "E107K,H54R,L161V,P10L,P10R,Q40R,R87W" "0,0,0,0,0,0,0" 54942 13351 dbsnp29199 NP_443749.5 "D73G,H197Q,N305S,Q12R,R404H,T180S,T93M,V250M" "0,0,0,0,0,0,0,0" 114299 1698 dbsnp29201 NP_060150.4 "D188H,D39A,F9I,G192E,G218A,M30T" "0,0,0,0,0,0" 54829 9011 dbsnp29203 NP_078911.3 "D10E,I135V,L116W,N28D,P653S,Q286K,R603C,S273C,T118M" "0,0,0,0,0,0,0,0,0" 60560 3839 dbsnp29204 NP_056001.1 S3091A 0 23230 126 dbsnp29208;dbsnp29209 NP_997182.1;NP_060223.2 S12A 0 54886 10286 dbsnp2920;dbsnp2921 NP_658911.1;NP_005788.1 "D93V,E199K,R139Q,V142I" "0,0,0,0" 10205 12641 dbsnp29210 NP_056450.2 "F190S,G500R,L887P,N461S,N473S,P958S,P971S,Q1026P,Q833L,R734H,R948C,S541L,V284M,V586A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 849 dbsnp29211 NP_066929.1 "D131Y,G308S,H263Y,L116V,P80L,R130Q,R253H,R413H,R502C,R502H,S156G,T129N,V400L,V459I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 1425 dbsnp29213 NP_001229434.1 "G295E,K320Q,P461T,P467S,V264M" "0,0,0,0,0" 9615 7196 dbsnp29218 NP_002910.1 "H676Q,M269I,M687T,T396I,V688D" "0,0,0,0,0" 5991 2186 dbsnp29219;hgmd0613_2234 NP_478104.2 G63R 1 1029 13605 dbsnp2922 NP_054905.2 "A143G,D137V,E112K,K175R,T111N" "0,0,0,0,0" 29099 13011 dbsnp29221 NP_004288.1 "D134N,D65N,I186T,Q101H,Q24R,R33C,T171I,T72M,Y287C" "0,0,0,0,0,0,0,0,0" 9630 9110 dbsnp29222 NP_848631.2 "D125N,Q20K,R54G,V191I" "0,0,0,0" 286256 13148 dbsnp29223 NP_116326.2 "A124P,P75L,R37Q,V119M,V145F" "0,0,0,0,0" 85026 13451 dbsnp29224 NP_056065.1 "D417G,E724D,K90R,N393K,P327S,R463C,R493C" "0,0,0,0,0,0,0" 23299 2213 dbsnp29228 NP_001010940.1 "D159G,E126K,I179V,Q16R,R53C,R53H,R80Q,T155M,T189M,W11R" "0,0,0,0,0,0,0,0,0,0" 138255 12354 dbsnp29229 NP_001239548.1 "A157G,A84V,D98N,E87K,F46L,G100R,L144F,S76N,T61I,V103L" "0,0,0,0,0,0,0,0,0,0" 3933 12287 dbsnp29231;dbsnp29232 NP_002288.1;NP_001239546.1 E149Q 0 3933 12287 dbsnp29238 NP_001137499.1 "R519Q,T517M" "0,0" 27158 5072 dbsnp2924 NP_001182163.1 "E60G,F48I,H293D,I62R,S53F,S58T,T394N,T56I,V50A,V50I" "0,0,0,0,0,0,0,0,0,0" 642612 7546 dbsnp29242 NP_115686.3 "G182R,R155S,R22H,R71Q,R94H,R94L" "0,0,0,0,0,0" 84270 12362 dbsnp29243 NP_444295.1 "E289Q,G148A,G355V,M37V,R534C,S125N" "0,0,0,0,0,0" 29979 4859 dbsnp29245 NP_001073951.2 "E175K,P278S,Y327F" "0,0,0" 389813 2207 dbsnp29251 NP_056054.2 "C1029F,E1173D,G1093S,K1039R,K1089E,N14S,N596S,P126H,R1081Q" "0,0,0,0,0,0,0,0,0" 23287 1341 dbsnp29253 NP_115547.1 "E319Q,Q595K" "0,0" 84131 3865 dbsnp29256 NP_001480.3 "Q236P,S471N" "0,0" 2649 7015 dbsnp2926 NP_001157849.1 "A56P,A56T,A76T,F109L,G287V,M1L,T190N,V69E" "0,0,0,0,0,0,0,0" 386746 11128 dbsnp29260 NP_001012267.1 "A211D,E285Q,K54N,R168Q,R213W,S198L,T257A,T72M" "0,0,0,0,0,0,0,0" 401541 11151 dbsnp29261 NP_079458.2 "A178T,A70T,G365S,G46R,Q128H,R479H,R510W,S200N,T273A,V205G,V466M" "0,0,0,0,0,0,0,0,0,0,0" 80256 6027 dbsnp29262 NP_066282.1 "D95G,I47V,L49P" "0,0,0" 3443 13072 dbsnp29263 NP_056466.1 "A5G,H291N,P109L,P499S,R512Q" "0,0,0,0,0" 26147 5418 dbsnp29265 NP_001132914.1 "A163T,A369V,D471N,E596G,F315L,G408R,I237F,K595N,M522R,N213K,P160S,P191L,P726T,R289K,R307C,R637H,S59N,T433S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158135 3217 dbsnp29266 NP_919228.2 F523L 0 158135 3217 dbsnp29267 NP_073744.2 "A285V,A706P,G381S,H277R,K20T,N563K,P140T,P607R,R168C,R168H,R264W,R266Q,R68H,S146L,T26K,T26M,V111G,V116A,V116I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64855 3655 dbsnp29269 NP_004879.1 "A19V,E39A,R89Q" "0,0,0" 9550 14423 dbsnp2927 XP_001717092.2 "A61V,I218T,P224A,R12S" "0,0,0,0" - 11872 dbsnp29270 NP_009027.1 "I202V,N200S,Q104H" "0,0,0" 1211 11968 dbsnp29275 NP_848543.2 "A200V,A208P,G223S,G227S,R210H,R212Q,R253C,R266C,R266H,R269H,R348Q" "0,0,0,0,0,0,0,0,0,0,0" 89958 8717 dbsnp29282 NP_848661.1 "E87K,L202V" "0,0" 340481 11593 dbsnp29283 NP_821066.1 P179L 0 140459 8146 dbsnp29284 NP_597722.1 "M310I,P296A,Q163H,R115Q,R603Q,T164I,T644N,V177I" "0,0,0,0,0,0,0,0" 158405 3912 dbsnp29286 XP_001720518.2 T98N 0 - 13637 dbsnp29287 NP_001073965.2 "C252S,D191N,H286Q,I305V,P353L,Q130E" "0,0,0,0,0,0" 9827 8789 dbsnp2929 NP_003612.2 "A241T,A534G,A705S,D276E,H268Y,H849P,I316T,I749T,K204R,L589I,M797T,N331D,P407L,P434S,P768Q,P804A,R113H,R281H,R298C,R812Q,T636S,T756S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8495 2731 dbsnp29291 NP_060935.2 "M22T,N23S,P86R" "0,0,0" 55848 13989 dbsnp29292 NP_001010907.1 "A70T,V56A" "0,0" - 14640 dbsnp29293 NP_001013757.1 "A361D,K41N,P144T,V319I,W87C" "0,0,0,0,0" 442425 7919 dbsnp29294 XP_003118659.1 "A116V,C95S,D39A,H106Q,L25F,Q76H,T14M" "0,0,0,0,0,0,0" 100506667 12427 dbsnp29295;hgmd0613_574 NP_001018126.1 "D163G,H329N,N128K,N81K,P324L,P327H,R131C,R131H,R231K,R94Q,S78L,V132E" "0,0,1,0,0,0,0,0,0,0,0,0" 347273 9333 dbsnp29296 NP_064448.1 "A17T,A17V" "0,0" 56751 8860 dbsnp29297 NP_001001710.1 "A163T,D133N,G278S,I273V,L251V,M239I,M242V,P12L,P138L,P14L,P84L,P94L,R188C,R303Q,S276N,T2K,T82M,Y176C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401565 10491 dbsnp29298 NP_612471.1 "K216M,K216R,R109Q" "0,0,0" 116225 12404 dbsnp29299 NP_001013675.1 "G39A,L242V,P220S,P312S" "0,0,0,0" 389816 10060 dbsnp29300 NP_598395.1 "A185T,D159H,D159N,L127F" "0,0,0,0" 6837 12969 dbsnp29302 NP_001157782.1 "P226Q,R30W" "0,0" 730112 11388 dbsnp29306 NP_001001709.1 "K109M,K90R,R61Q,V84I" "0,0,0,0" 401535 14401 dbsnp29307;hgmd0613_1902 NP_061335.1 "A324V,A331V,D471G,M380I,Q42E" "0,0,0,0,0" 55958 4505 dbsnp29309 NP_001094808.1 "R117K,R366P,T221P" "0,0,0" 169834 6040 dbsnp2931 NP_001243498.1 A17V 0 8495 2731 dbsnp29310 NP_066401.2 "D25Y,D95N,K157R,K182Q,L112I,M155I,M155T,R33G,R3W,S31T,V10A,V11M,V129L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3444 13072 dbsnp29312;dbsnp29313 NP_001188504.1;NP_001324.2 "A241T,G253V,M91K,Q188E,R153W,V167L" "0,0,0,0,0,0" 1515 10061 dbsnp29314 NP_056207.3 "G112A,P237L,R124Q,R302C,S200T" "0,0,0,0,0" 56654 10287 dbsnp29315 NP_277051.3 "A68T,G134E,H16Q,V112M" "0,0,0,0" 89882 14083 dbsnp29317 NP_001001874.1 T130M 0 89882 14083 dbsnp29318 NP_001001712.2 "A9V,M173T,N154K,P58L,R144H,R147H,S41L,T195I,T197S,V126M" "0,0,0,0,0,0,0,0,0,0" 414332 12970 dbsnp29319;dbsnp29320 NP_004050.3;NP_001116143.1 "G223R,G223W,I120V,R398C" "0,0,0,0" 883 7504 dbsnp29322 NP_001188309.1 "A38V,A435T,A533S,D281H,D281N,D572E,E581K,F312S,K1285E,L110F,L408F,R786H,R786L,S317T,S711Y,T951M,V275I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 728577 1153 dbsnp29324 NP_001001923.1 "G156E,I286V,L73M,N5K,R176Q,R265C,R297C,R297H,R93Q,V252M" "0,0,0,0,0,0,0,0,0,0" 392391 10292 dbsnp29325 NP_004520.2 "E202D,R444K,S345P,T344I" "0,0,0,0" 4300 5581 dbsnp29326 NP_062538.5 "A226T,L847F,R413K,S540F,V866M" "0,0,0,0,0" 56254 2101 dbsnp29327 NP_056271.2 E409G 0 25920 5419 dbsnp29329 NP_001127956.1 "I89T,P45L" "0,0" 401505 14747 dbsnp29332 NP_001243337.1 "A2V,S101F,W44R" "0,0,0" 158434 14570 dbsnp29333 NP_079037.3 "K20R,R201H,R85L,Y191F" "0,0,0,0" 79817 11528 dbsnp29334 NP_001004354.1 R16L 0 441478 14496 dbsnp29335 NP_115718.1 "F28V,I107V,N166S,R45Q,V118I,V207I" "0,0,0,0,0,0" 84302 8533 dbsnp29336 NP_065171.2 "A178T,F53Y,G94D,R129K,V112I,V138M" "0,0,0,0,0,0" 57171 12174 dbsnp2933;hgmd0613_2142 NP_113659.3 "A176V,A246T,G413S,G44R,I53M,P203L,Q508P,R107H,R111C,R111H,R19Q,R35L,R506S,S386R,V100I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83706 4402 dbsnp2934 NP_001005285.1 "A242G,C114W,K85R,L108I,P134L,R127C,R268G,R95H,S101F,T296M,V15I,Y40C" "0,0,0,0,0,0,0,0,0,0,0,0" 341152 10400 dbsnp29340 NP_001122090.1 "A102T,E103K,F42L,G18S,G77V,M23I,R43C" "0,0,0,0,0,0,0" 138240 13711 dbsnp29342 NP_065997.1 "A746V,E709D,G773R,H881R,N182T,P331L,R501C,R672Q,R742Q,R745G,S661L,T359I,T519M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57706 2076 dbsnp29345 NP_005412.1 "G102R,G67A,V98I" "0,0,0" 6887 10129 dbsnp29346 NP_005375.2 "K406E,M170I,S359Y,S441P,V9I" "0,0,0,0,0" 4783 7376 dbsnp29347 NP_689633.1 "I273V,W230R" "0,0" 138199 8418 dbsnp29350;dbsnp29351;dbsnp29352 NP_062540.2;NP_001120717.1;NP_001120716.1 "E775K,R492H,R533C,R533G,S68L,T92M,V536I,V567M" "0,0,0,0,0,0,0,0" 56262 2846 dbsnp29354 NP_001078926.1 "D159N,W100R" "0,0" 644019 8682 dbsnp29355 NP_001185741.1 "H178Y,I358F,R149I" "0,0,0" 100526694 7517 dbsnp29358 NP_004314.5 "A49V,G310A,K287E,R277K,R335W,S304G,T339I,T81N" "0,0,0,0,0,0,0,0" 573 9807 dbsnp29359 NP_001177667.1 "I24F,S326N" "0,0" 4781 5786 dbsnp29360;dbsnp29361;dbsnp29362 NP_001833.1;NP_001193940.1;NP_671693.1 "A313S,F125S" "0,0" 1271 9179 dbsnp29364 NP_055094.1 "D10V,H278P,P13R" "0,0,0" 10439 7273 dbsnp29366 NP_001851.1 G76D 0 1318 14040 dbsnp29369 NP_001138721.1 "R130W,R70L" "0,0" 100132403 8921 dbsnp29371 NP_001004452.1 "D109E,D121N,K80R,L140Q,L194F,Q6L,T146P,T254I" "0,0,0,0,0,0,0,0" 26219 10316 dbsnp29372 NP_116317.1 R54S 0 85014 14558 dbsnp29373;dbsnp29374 NP_003266.1;NP_001159588.1 "K191Q,R5Q" "0,0" 7111 9468 dbsnp29375 NP_694969.1 "A163T,A82T,E115D" "0,0,0" 169693 13553 dbsnp29377 NP_001002913.1 "C20S,M17K,S153A" "0,0,0" 138428 12665 dbsnp29378 NP_001073952.1 "D64N,G54S,L85M,M35L,P91T,T3M,V106M" "0,0,0,0,0,0,0" 389827 12523 dbsnp29379 NP_644815.1 R76H 0 246184 14801 dbsnp2937;dbsnp2938 NP_203134.1;NP_258416.1 "A237T,G201E,G61R,K119R,R152C,S244P,V137M" "0,0,0,0,0,0,0" 10089 10718 dbsnp29380 NP_036230.1 "P222S,P388S,R301C,R375H,R396W,R46Q,R64W" "0,0,0,0,0,0,0" 23452 6802 dbsnp29381 NP_060260.3 "R13Q,Y22H" "0,0" 5998 1425 dbsnp29384 NP_997723.2 "P122L,P200S,V13L,V13M,Y174C" "0,0,0,0,0" 401498 12249 dbsnp29385 NP_002160.1 "C122S,F66S,Q70E" "0,0,0" 3442 13072 dbsnp29386 NP_055097.2 "G190A,G190V,R369H" "0,0,0" 22927 8322 dbsnp29387 XP_003119217.1 "A141T,I134N,S145N" "0,0,0" - 13637 dbsnp29388 NP_038471.2 "G91S,R23L,R31C,R78C,R78H,R79P,R79Q,S301G,V155I" "0,0,0,0,0,0,0,0,0" 30815 10083 dbsnp29390;dbsnp29391 NP_001036055.1;NP_001036054.1 "A439G,A62T,E45K,G116E,I450V,L19P,P13L,R367C" "0,0,0,0,0,0,0,0" 51754 7175 dbsnp29399 NP_872311.2 "I116T,I84V,R55H" "0,0,0" 138241 13791 dbsnp2940 NP_203133.1 A304G 0 10089 10718 dbsnp29401 NP_112587.2 "E113D,G228A" "0,0" 727800 11694 dbsnp29402 NP_001197.1 "E46D,H27Y" "0,0" 687 12047 dbsnp29403 NP_003349.1 "I227T,I266V,N68S" "0,0,0" 7357 8718 dbsnp29404 NP_115626.2 "A555V,E262D,G509D,H314R,I528M,I760T,K256N,L524F,R638Q,R739H,S264P,S313L,S700T,V207I,Y208H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84210 3075 dbsnp29405 NP_055100.2 "E275K,P8A,R236Q,R285H,R87Q" "0,0,0,0,0" 23404 11038 dbsnp29406;dbsnp29407;dbsnp29408;dbsnp29409 NP_001231319.1;NP_671702.1;NP_671701.1;NP_001152.1 "A23S,C123R,E25V,Q124H" "0,0,0,0" 318 13990 dbsnp2941 NP_116200.2 "A163V,M279I,P251S,P406S,S378F" "0,0,0,0,0" 84897 8364 dbsnp29410 NP_037498.1 "D652N,E708D,E99K,G711S,Q106R,R270W,R706H,V5A,V7G" "0,0,0,0,0,0,0,0,0" 29882 3082 dbsnp29411;dbsnp29412 NP_932095.1;NP_060907.2 "A279E,D447G,P111R,T360N,V97A" "0,0,0,0,0" 55363 6940 dbsnp29413 NP_001092740.1 "R324Q,R489Q" "0,0" 403341 6682 dbsnp29414 NP_001093136.1 "L130F,P271L" "0,0" 375743 8555 dbsnp29418 NP_112240.1 "H58R,R55Q" "0,0" 81873 13873 dbsnp29419 NP_057391.1 "A172G,S201C,Y199S" "0,0,0" 51450 11857 dbsnp2942 NP_001186197.1 A20T 0 8525 1666 dbsnp29421 NP_004780.3 P259Q 0 9355 8483 dbsnp29423 NP_008845.2 P205S 0 6096 5759 dbsnp29425 XP_001126659.1 "D26E,E41Q" "0,0" 728026 14424 dbsnp29426 NP_055866.1 "F230L,N45S,P201L" "0,0,0" 23071 8484 dbsnp29427 NP_443133.2 "A432V,H74R,Q315H,V148M" "0,0,0,0" 114789 6612 dbsnp29438 NP_057366.2 "I140F,K181T,M13I,P67L" "0,0,0,0" 50808 12405 dbsnp29439 NP_055149.2 "D150N,V183A,V229A" "0,0,0" 23732 9825 dbsnp29440 NP_899064.1 "E144G,E144Q,G14D,T73I" "0,0,0,0" 286257 12895 dbsnp29442 NP_001128691.1 "A101S,R273Q,T304M" "0,0,0" 138429 8719 dbsnp29444 NP_008831.3 "A138V,A164G,A43V,M1T,M1V" "0,0,0,0,0" 3447 13072 dbsnp29445 NP_000967.1 "R117L,R117Q,V73M" "0,0,0" 6136 13638 dbsnp29446 NP_996831.1 V204M 0 80036 606 dbsnp29448 NP_945352.2 "A83D,G68D" "0,0" 375791 14036 dbsnp29453 NP_115866.1 "L114V,L127V,T45I" "0,0,0" 64975 14143 dbsnp29454 NP_671709.1 "E51K,L52V" "0,0" 5535 13502 dbsnp29455 NP_002980.1 "A42S,F16S" "0,0" 6366 14194 dbsnp29456 NP_001234930.1 "E223D,S159W,T162M" "0,0,0" 6418 11112 dbsnp29462 NP_001186916.1 P75S 0 4712 14290 dbsnp29463 NP_002484.1 "I81T,M43V,P106S,T109I" "0,0,0,0" 4712 14290 dbsnp29465;dbsnp29466 NP_001129248.1;NP_054726.1 "K296R,L151V,R205H" "0,0,0" 23099 7274 dbsnp29467;dbsnp29468 NP_054776.1;NP_148935.1 S27T 0 4969 10924 dbsnp29469 NP_778204.1 "R256L,T301I,V20I" "0,0,0" 27090 10825 dbsnp29471 NP_588615.2 "A24V,G361V,T524M" "0,0,0" 114991 2826 dbsnp29472 NP_001116827.1 I114V 0 5537 9872 dbsnp29474;dbsnp29475 NP_001243455.1;NP_690046.3 "I45V,R35C" "0,0" 90120 14110 dbsnp29476 NP_006617.1 "E261D,M246I" "0,0" 10773 8073 dbsnp29478 NP_005502.1 G31R 0 2315 14435 dbsnp2948 NP_077004.2 "E179D,P104R,R160C,R37G,S27G,T86I" "0,0,0,0,0,0" 79081 11629 dbsnp29480 NP_003925.1 V369I 0 8939 5528 dbsnp2949 NP_001005211.1 "A188P,I200V,M258V,Q261K,Q309H,R159C,R159H,T161N,V134M,V213I" "0,0,0,0,0,0,0,0,0,0" 219954 10553 dbsnp29493 NP_004260.2 "V197M,V202I" "0,0" 9442 10645 dbsnp29494 NP_001392.2 "D288N,I61V" "0,0" 1902 9315 dbsnp29496 NP_060809.3 R129Q 0 55312 13824 dbsnp29497;hgmd0613_1675 NP_055101.2 N119S 0 23413 13130 dbsnp29499 NP_001171869.1 I27V 0 203259 13273 dbsnp2950 NP_006464.1 "I189T,R225H,S405W,T24M,T48M" "0,0,0,0,0" 10629 4885 dbsnp29505 NP_006265.1 R95C 0 6363 14689 dbsnp29510 NP_653255.1 T58A 0 138162 14161 dbsnp29512;dbsnp29513;dbsnp29514 NP_001185734.1;NP_001185735.1;NP_542386.1 "F271C,V175I" "0,0" 91283 7517 dbsnp29515 NP_710162.1 A271V 0 195828 9675 dbsnp29516 NP_597721.2 "I170V,S315P,S481L" "0,0,0" 158399 3671 dbsnp29518;dbsnp29519 NP_001006621.1;NP_001006622.1 "M6V,S68N" "0,0" 79109 6271 dbsnp2952 NP_055639.2 "G239V,I384M,I732T,L417P,M39T,P657L,R129G,S436L,V191I" "0,0,0,0,0,0,0,0,0" 9873 3701 dbsnp29525 NP_001094058.1 "C764Y,L1009V" "0,0" 54542 1446 dbsnp29527 NP_958861.2 "E280D,M149V" "0,0" 445571 8682 dbsnp29528 NP_077321.3 "N264Y,P3S" "0,0" 79269 5714 dbsnp29529 NP_001030331.1 "G241S,T361M,T361R" "0,0,0" 399665 8922 dbsnp2953 NP_001004759.1 "A331T,D167E,I30M,N345S,P59L,R151H,R329H,V240I,Y209C" "0,0,0,0,0,0,0,0,0" 401665 9565 dbsnp29531 NP_006392.1 R150Q 0 10541 11529 dbsnp29532;dbsnp29533 NP_680544.1;NP_680545.1 "N38S,R88C" "0,0" 138716 13673 dbsnp29536;hgmd0613_746 NP_001235.1 L41M 0 944 12267 dbsnp29538 NP_112176.1 V92I 0 81605 14641 dbsnp29539 NP_001185736.1 L155F 0 91283 7517 dbsnp2954 NP_059985.2 "I43V,R338C,S254N" "0,0,0" 54733 8432 dbsnp29540 NP_149351.1 R19C 0 6836 11515 dbsnp29541 NP_036296.2 D297Y 0 26190 7518 dbsnp29542 NP_001020087.2 "G106C,M1I" "0,0" 220869 8682 dbsnp29546 NP_001076593.1 "A1030T,E313Q,E950D,G112V,G90V,H1235R,H139Q,K1090N,P1152Q,Q1270K,T168I,T928M,V1148I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 727830 1046 dbsnp29547 XP_001719335.1 T26P 0 100132439 13637 dbsnp29548 NP_954586.4 "A254P,A6T,G280R,P247Q" "0,0,0,0" 286380 7779 dbsnp29549 NP_001229542.1 "G626D,R641W" "0,0" 642629 1046 dbsnp2955 NP_001001965.1 "C141F,D175V,F94V,I154V,I277L,M199V,M281L,R226Q,R233C,T248I,T57P" "0,0,0,0,0,0,0,0,0,0,0" 219875 9203 dbsnp29550 NP_001138669.1 "A746T,E723D,I912L,P700S" "0,0,0,0" 389761 758 dbsnp29551 NP_001078921.1 "P1105H,P1105L" "0,0" 647060 1046 dbsnp29552 NP_001035154.1 "P1105H,P1105L,P1106L,R364W,S1113F" "0,0,0,0,0" 642265 1046 dbsnp29553 NP_001012421.1 "E779K,H67R,L796I,R739H" "0,0,0,0" 441430 3075 dbsnp29554 XP_001720515.1 R27C 0 - 13637 dbsnp29555 NP_001078945.1 R366K 0 653404 7779 dbsnp29556 NP_056482.2 "H301P,L701S,L97V,P667L,S630L,T335R" "0,0,0,0,0,0" 26165 1046 dbsnp29557 NP_997299.2 "I912L,P700S" "0,0" 389762 758 dbsnp2956 NP_001138408.1 "A206S,G123S,H108R" "0,0,0" 65998 4290 dbsnp29564 NP_001243690.1 "K167Q,K228R" "0,0" 3358 11969 dbsnp29571 NP_001172004.1 "A434V,T463M,T529I" "0,0,0" 2332 4768 dbsnp29579 NP_066387.1 "G24V,G94R,M1V,Q29H,S83Y" "0,0,0,0,0" 4104 7959 dbsnp2958 NP_055827.1 "A14S,F66S,I266V,V115A" "0,0,0,0" 440026 11080 dbsnp29582;dbsnp29583;dbsnp29584 NP_001238757.1;NP_066386.2;NP_001011543.2 "A38V,R284W,R293W,R7H" "0,0,0,0" 4109 9214 dbsnp29587 NP_001164099.1 "K15R,M16I" "0,0" 2334 1146 dbsnp29588 NP_006630.1 "A325T,F309L,I123T,I206S" "0,0,0,0" 10800 9983 dbsnp2959 NP_060790.2 D20E 0 55298 10195 dbsnp29600 NP_001171606.1 "C198S,L133F,P165A,T208N,T88M" "0,0,0,0,0" 8226 11904 dbsnp29608 NP_001075019.1 "A1349V,N1261S,V317A" "0,0,0" 57187 739 dbsnp2962 NP_659418.1 "R155C,R3C,S75G" "0,0,0" 196294 13612 dbsnp2964 NP_976031.1 R350M 0 5818 6358 dbsnp29646 NP_003998.1 "A1887S,A2272T,A2800S,A450V,D1785V,D2647N,D395E,E1366K,E1703Q,E1751K,E2085G,E2909K,E454D,E868Q,F1265V,F3105L,G631V,H323R,I109M,K1026E,K1387R,K1598N,K2484M,L1242F,L1525V,L839V,M1398I,M883I,N1549K,N674K,P2737H,P2839L,P2888L,P998S,Q1346L,Q2368R,Q242H,R1201C,R1605C,R1622H,R1834W,R1928W,R1985C,R2032W,R220H,R2292C,R2401H,R2828H,R3109S,R3550K,R440H,R905C,S3101G,S543L,S884L,T1013S,T1122I,T1858M,T185N,T2318P,T2626A,T286S,T507A,T592S,T724A,V1503E,V2872I,V382L,V673I,Y1872F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 91 dbsnp29648 NP_004002.2 N16S 0 1756 91 dbsnp2965 NP_001073275.1 K2R 0 643834 8560 dbsnp29650 NP_001163931.1 "A125G,D492N,D567E,D9G,N473D,P404L,P60S,R353Q" "0,0,0,0,0,0,0,0" 5127 5556 dbsnp29652 NP_148978.2 S3P 0 5127 5556 dbsnp29655 NP_001020414.1 S453L 0 3654 3947 dbsnp29663 NP_689410.1 "G338D,K339T" "0,0" 5475 4554 dbsnp29664 NP_001041646.1 "A285T,F279V,Y116S" "0,0,0" 728458 9313 dbsnp29676;hgmd0613_774 NP_001447.2 "A1188T,A1419G,A1756T,A872T,D2296N,K1486I,K994R,N931D,Q2333L,Q2333R,R276Q,R301W,R634G,S1012L,S1199L,V2514I" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 2316 186 dbsnp29678;hgmd0613_2260 NP_598006.1 "H433Y,I395V,N170K" "0,0,0" 6853 4040 dbsnp29682 NP_056501.2 "A368V,G226W,L172P,L224V,T460I,V231M" "0,0,0,0,0,0" 27112 7139 dbsnp29689 NP_001229239.1 "A127T,K174E,P112S,R57K,Y8H" "0,0,0,0,0" 60401 10459 dbsnp2968;dbsnp2969 NP_659450.1;NP_001243017.1 "T97A,V85I" "0,0" 219833 14018 dbsnp29692 NP_038480.2 "E111Q,E159K,E159Q,E199Q,E93K,E97Q,G98R,L104P,L203P,M180V,P3S,Q126E,Q126L,Q129E,Q149E,Q169E,S125T,S138R,T15K,T15R,V130L,V160M,V206M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26609 12611 dbsnp29693 NP_001129706.1 "A514P,A541T,L341W,R147H" "0,0,0,0" 100130302 2684 dbsnp29711 NP_001030025.1 "A781P,A781S,A781T,E927D,G1136D,M686K,R804K,V1021E,V1144I" "0,0,0,0,0,0,0,0,0" 6103 1547 dbsnp29718 XP_002343891.3 "A277T,A383T,A527T,G372A,G626D,H601Y,I279V,I524V,I598R,L557F,L561V,M1I,M441R,P621S,P94S,R156W,R553T,S453L,T378M,V197I,V585A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 4644 dbsnp2971;dbsnp2972 NP_689928.3;NP_001123519.1 "I146L,M145I" "0,0" 219899 8067 dbsnp29724 NP_001018024.1 "C50S,I14T,S65F" "0,0,0" 100272147 14891 dbsnp2973;dbsnp2974 NP_001169.3;NP_001025443.1 "D22N,P534S" "0,0" 406 4841 dbsnp2975;dbsnp2977 NP_001106283.1;NP_001070712.1 "D191E,L18V,R278C" "0,0,0" 2893 2523 dbsnp29762;dbsnp29763;dbsnp29764 NP_001166210.1;NP_001166214.1;NP_068557.3 "H274P,I428F,I513V,P395L,P56A,R470T,R495K,S258F,V474M" "0,0,0,0,0,0,0,0,0" 10742 6133 dbsnp29770 NP_001166925.1 G42S 0 5160 7993 dbsnp29772 NP_000799.1 "I342M,L180P,R256W,T12S" "0,0,0,0" 2556 5782 dbsnp29775 NP_061863.1 "A240T,E134K,G265S,P139L,R244C,R245Q,V93M" "0,0,0,0,0,0,0" 54440 8992 dbsnp29794 NP_001161833.1 G1047E 0 27328 1072 dbsnp298 NP_005176.1 "E32Q,L117M,L146M,P67S" "0,0,0,0" 810 13934 dbsnp2980;dbsnp2981 NP_004388.2;NP_001244120.1 "Q20E,T64N" "0,0" 1656 6951 dbsnp29813 NP_001027898.2 "E208K,I138L,I138V,M51T,R101H" "0,0,0,0,0" 347517 11823 dbsnp2982 NP_005321.1 "I76V,V34I" "0,0" 3046 13966 dbsnp29823 NP_942582.1 D615G 0 54885 1583 dbsnp29824 NP_689847.2 "M360I,R6C,S162G,S193L,V23I,W381L" "0,0,0,0,0,0" 170082 8965 dbsnp2983;hgmd0613_2184 NP_116190.3 "L15V,N292K,R295C,V137G,V150A,V205M" "0,0,0,0,0,0" 83700 10658 dbsnp29843 NP_004970.3 "I435V,L466V,L529P,R420W,R99Q,S531A,S575A" "0,0,0,0,0,0,0" 3750 4536 dbsnp29844;hgmd0613_659 NP_001093392.1 "A173V,A869V,C992Y,E463G,L308P,M600V,N35S,T1020A" "0,0,0,0,0,0,0,0" 79868 1597 dbsnp29847 NP_001244160.1 T3I 0 79868 1597 dbsnp29851 NP_001182201.1 "H596P,H814Q,K651E,L337P,M526L,P203T,P799S,Q303P,R115C,R525S,R971Q,S152C,S666G,S811G,T401M,V703I,V909A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100129520 2137 dbsnp29853;dbsnp29854 NP_062543.1;NP_001027565.1 "G369W,M1T" "0,0" 3188 7617 dbsnp29869 NP_001135391.1 "D60N,G62S,L131H,L131P,L131R,R72C,R72H" "0,0,0,0,0,0,0" 7499 13088 dbsnp2987 NP_001137292.1 "A151T,F296I,Y206C" "0,0,0" 2113 5038 dbsnp29886 NP_659404.2 "A538D,R149H,R163Q" "0,0,0" 158763 5893 dbsnp2989 NP_776162.2 G16S 0 219990 13771 dbsnp29896;dbsnp29897 NP_001013008.2;NP_001155962.1 "M279I,P159S,S215L" "0,0,0" - 11113 dbsnp2990 NP_001008392.2 "F284S,I1017K,N6S,R42H,S923I,S929F,T1071M,V959G" "0,0,0,0,0,0,0,0" 493860 1786 dbsnp29901 NP_001013649.2 "A521V,A527T,A545T,D1221N,E1070D,E354K,F960C,G1126S,G453E,H912Y,L345P,L605V,R1030K,R182C,R798W,R832C,R832L,R936G,S391F,S569F,S700P,T161N,T794I,T901I,V807I,W638G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340527 1346 dbsnp29902 NP_001138818.1 "D288N,G1061A,G193S,G217D,G466R,G996S,H853P,P295A,R556Q,R636L,R851Q,S410T,S536I,S538C,S559W,S846T,S956L,W317R,Y1011H,Y272C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139804 1833 dbsnp29905 NP_665801.1 "R275Q,R280G,R280W,V100I" "0,0,0,0" 23157 6955 dbsnp2991 NP_680475.1 I112V 0 1075 7336 dbsnp29910 NP_001001995.1 "K40N,M1V" "0,0" 2824 10209 dbsnp29914 NP_775794.2 "G118A,G118S,G155A,G172R,P388S,P94L,R98H,S82F,S93R,V144I,Y124S" "0,0,0,0,0,0,0,0,0,0,0" 158809 8452 dbsnp29927 NP_001165756.1 "D199Y,I85V,M332V,R106C,R153H" "0,0,0,0,0" 441509 7333 dbsnp29928 NP_001019623.2 V315M 0 441509 7333 dbsnp29931 NP_689844.2 "E106K,E120Q,E372K,K139T,K413R,L561V,M447I,P216R,Q496P,R114Q,R308H,R363L,R419P,R4Q,V256L,Y182H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 170062 4645 dbsnp29936 NP_001091883.2 "D74H,R49C" "0,0" 643832 14111 dbsnp29939;dbsnp29940 NP_001036215.1;NP_001036214.1 W1161C 0 10735 1237 dbsnp29941 NP_620074.3 "A345T,A649T,D817G,G620S,G820S,I751L,K25T,K726N,N927S,P565S,P599S,R804W,R921W,S108N,S757N,T1082I,V1137L,V39A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9843 1389 dbsnp29943 NP_001130005.1 "G15A,H453R,K554E,Q162L,R150P,R242W,R261K,S18N,S77R,T345A" "0,0,0,0,0,0,0,0,0,0" 347442 4794 dbsnp29945 NP_068765.3 "A581T,A971G,C1409Y,D1589N,D94N,G941V,K1053R,M991L,R1048Q,R1354Q,R1548W,R1691Q,R630H,R72W,T1111M,V1249I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63035 628 dbsnp29947;dbsnp29948 NP_001018123.1;NP_689846.1 "A6T,D804G,F590S,G335E,G666S,H458R,H780R,P697L,R121C,R121H,R387C,R481H,T360M,T553M,Y632D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2187 2842 dbsnp29951;hgmd0613_704 NP_001137453.1 "K318N,R209H,R233Q,R384Q" "0,0,0,0" 91851 7449 dbsnp29957 NP_001243084.1 "A1227T,A1293T,A1666T,A1825V,A1839V,A504T,A582P,A694V,D415N,E1830G,E1834G,E62V,G1035V,G1583A,G1814R,G1832R,G223A,G273R,I1013V,I1032T,I1851L,I1851V,L750P,M1286I,M427T,N2204S,N2221I,N425S,Q2004H,R3H,R84G,S1142T,S1373T,S1709F,S1769A,T1593I,V1369I,V1439G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100131755 305 dbsnp29960 NP_001191397.1 S6P 0 8241 2127 dbsnp29969 NP_940913.1 "A189V,G281R,G281S,L381P,Q22R,R384G" "0,0,0,0,0,0" 347404 8166 dbsnp29970 NP_001163802.1 I388M 0 347404 8166 dbsnp29973 NP_003819.1 "E97D,H375Y,I146V,N489K,S517L,V661I" "0,0,0,0,0,0" 8776 4431 dbsnp29976 NP_001164250.1 "N34S,P68S,Q192R" "0,0,0" 159091 13089 dbsnp29980;dbsnp29981 NP_001171700.1;NP_149037.4 "C278R,F124I,G252A,L134H,M263T,R206C,S102Y,T130I" "0,0,0,0,0,0,0,0" 53336 10834 dbsnp29984 NP_758965.1 "Q144H,R143H,S157P" "0,0,0" 30848 12741 dbsnp2999 NP_006433.2 "R109C,T149S" "0,0" 10589 12863 dbsnp29990 NP_057463.2 "E159Q,E171K,L124P,L154P,L174P,L183P,M180V,Q126H,Q129E,Q156H,Q166H,Q169E,V150M,V160M,V170M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51481 12611 dbsnp29993 NP_001164218.1 "A94S,R16Q,S18R" "0,0,0" 5303 13809 dbsnp29995 NP_001171577.1 "A122V,A216V,E328G,Q286K,R708H,R9H" "0,0,0,0,0,0" 7739 3873 dbsnp3 NP_004232.2 "A53T,D2163E,D349V,E175D,E2294K,E2298D,E809Q,I1614V,K1481R,K418R,M372V,N1174Y,N306D,P1743L,Q1798H,Q1798P,R149Q,S101N,S245T,T1175S,T297S,T431I,V1356A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 231 dbsnp3000 NP_110401.1 "A293V,E20Q,K230N,R89Q,S32P,T112S,V208M" "0,0,0,0,0,0,0" 81285 10293 dbsnp30002 XP_001127211.4 "A194E,E323K,I191M,M203V,Q182R,Q197R,R330C,R334Q,R484C" "0,0,0,0,0,0,0,0,0" - 4376 dbsnp30005;dbsnp30006 NP_001091048.1;NP_005291.1 "L315F,N295S,R24H,R24S,V280L" "0,0,0,0,0" 2857 8966 dbsnp30015 NP_001186747.1 "A128G,E21D,G47A,K753E,M720I,P546S,P807L,Q823K,R109H,R173S,S289G,T707S" "0,0,0,0,0,0,0,0,0,0,0,0" 100528062 2978 dbsnp30020 NP_001012997.1 "D82E,R101P" "0,0" 340543 12843 dbsnp30025 NP_997305.2 "E63Q,E68K,I8T,S51L" "0,0,0,0" 392490 13505 dbsnp3003 NP_057043.1 "D60E,G48R" "0,0" 51075 10962 dbsnp30031 XP_003118874.2 "A133V,A52T,P121S,P121T,Y116H" "0,0,0,0,0" - 12121 dbsnp30032 NP_001171504.1 "F151Y,R164Q" "0,0" 55906 12467 dbsnp30033 NP_775970.1 "A63V,D190A,E21K,N108T,P49L" "0,0,0,0,0" 286514 9734 dbsnp30040 NP_001012998.2 "G315D,G320D,G415D,G470S,I409T,I546F,M271V,M559I,P351L,Q199R,Q225R,R123H,R387K,R439Q,S209N,S234G,S472C,V198M,W279R,W417R,W482R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340562 4778 dbsnp30045 NP_001180210.1 V219I 0 4281 4811 dbsnp30047 NP_001161871.1 "G121E,I101M,N64D" "0,0,0" 84707 13733 dbsnp30055 NP_001013007.1 "I138T,I9T,P116S,V81I" "0,0,0,0" 389898 13874 dbsnp30058 NP_004126.1 "A354V,G212R,R101C,V385I" "0,0,0,0" 3421 8742 dbsnp30059 NP_001034671.3 "D195N,G397R,Q346R,R149C,R372Q,R419C" "0,0,0,0,0,0" 139728 8032 dbsnp3007 NP_009104.1 "A166S,D208N,E56K,I234F,I234V,L10R,M261I,M348L,N47I,N47S,Q129K,R204Q" "0,0,0,0,0,0,0,0,0,0,0,0" 11098 8932 dbsnp30076;dbsnp30077;dbsnp30078 NP_067065.1;NP_001092260.1;NP_001092261.1 "G182D,I167N,P71T" "0,0,0" 58526 13322 dbsnp30080 NP_001243506.1 "C105F,F46L,G156E,I148V,K175R,L194H,S216L" "0,0,0,0,0,0,0" 6134 12624 dbsnp30081;dbsnp30082 NP_055195.1;NP_996798.1 D21Y 0 27018 14408 dbsnp30095 NP_076423.2 "A5V,K35Q,S74P" "0,0,0" 65991 13200 dbsnp30107 NP_001156408.1 "I8T,S42L,S67T" "0,0,0" 100132963 14673 dbsnp30114 NP_001171586.1 M17V 0 7739 3873 dbsnp30121;hgmd0613_673 NP_001104595.1 "P267L,R531P,R800Q" "0,0,0" 23096 848 dbsnp30125 NP_001005333.1 "A166S,G517D,I811V,L294M,P521S,Q171L,Q171R,V57I" "0,0,0,0,0,0,0,0" 9500 3012 dbsnp3013 NP_112565.1 "P17R,Y48C" "0,0" 56158 14363 dbsnp30130 NP_073721.1 A19T 0 - 10259 dbsnp30133 NP_659489.1 "G40R,N79T,S72F" "0,0,0" 139596 10682 dbsnp30134 NP_995321.1 "D168E,H101Y,I131V,S102F" "0,0,0,0" 171483 13255 dbsnp30137 NP_004717.2 "I432V,P391L,P391S,S241L,S591Y,V234F" "0,0,0,0,0,0" 9185 4487 dbsnp3014 NP_872418.1 "D55G,T33M,V124I" "0,0,0" 347862 12535 dbsnp30142 NP_078815.3 "E360K,H354Y,I46M,N178Y,S85N,Y120H" "0,0,0,0,0,0" 79589 7994 dbsnp30143 NP_036410.1 "D328N,G298R,P78L" "0,0,0" 26548 9749 dbsnp30144;hgmd0613_1652 NP_054701.1 V391I 0 3920 8373 dbsnp3015 NP_001074016.1 "A67P,A67T,K223Q" "0,0,0" 6688 11467 dbsnp30175 NP_001156794.1 "A615V,K232N,L470I,P454L,R490H,V197I" "0,0,0,0,0,0" 90060 4476 dbsnp30179 NP_001010986.1 "D609V,L562V,R194C,T584A,V972M,Y522C,Y689C" "0,0,0,0,0,0,0" 286410 1445 dbsnp30181 NP_001011657.2 "D118N,D321Y,I635V,L250S,P605S,R596Q,V84F" "0,0,0,0,0,0,0" 84460 4716 dbsnp30185 NP_001244332.1 "A332S,P325L" "0,0" 11326 8607 dbsnp3019 NP_001177945.1 "D61Y,E118D,G283S,H156R,I215V,M31R,N33I,R203C,T21I,T271I,V168M" "0,0,0,0,0,0,0,0,0,0,0" 100506742 9883 dbsnp30191 NP_378668.1 "A2T,E161D,K144Q,Y8C" "0,0,0,0" 2258 11812 dbsnp30194;dbsnp30195;dbsnp30196 NP_079139.4;NP_001006938.1;NP_001006936.1 "I145L,K132N" "0,0" 79921 12390 dbsnp3020 NP_116319.2 "A45V,E142K,L6F,R113Q,T3A" "0,0,0,0,0" 85016 11552 dbsnp30200 NP_002358.1 "C214Y,D186Y,G183D,M330T,R17Q,R19H,R216G,R267H,R267S,S41P,T110N" "0,0,0,0,0,0,0,0,0,0,0" 4115 9734 dbsnp30207 NP_001158275.1 "C91R,E170A,F97I,H130L,H130P,I152T,M82T,R90H" "0,0,0,0,0,0,0,0" 27316 13070 dbsnp30208 NP_004056.2 "D122H,G170R,I19V,R224C,V13I,V25I,W203R" "0,0,0,0,0,0,0" 1038 11663 dbsnp3022 NP_002402.1 "I84T,S13C" "0,0" 4250 14720 dbsnp30245 NP_569059.3 "A130P,D25N,E34K,G215D,G247C,I301V,M309I,R198H,R278W,R56H,T31I" "0,0,0,0,0,0,0,0,0,0,0" 142689 10460 dbsnp30248 NP_001170936.1 "A829V,A896T,D915A,E949D,L672F,N778S,T670I" "0,0,0,0,0,0,0" 10046 2121 dbsnp30255 NP_620604.2 "A905T,G825A,N246S,R259C,R275C,R275H,R448Q,R796W,T1031S,Y795F" "0,0,0,0,0,0,0,0,0,0" - 1875 dbsnp3026 NP_001004727.1 "A272T,A289T,A91T,F248S,G196D,P175L,P253S,P253T,V247I,V263L" "0,0,0,0,0,0,0,0,0,0" 119764 9711 dbsnp30264 NP_056513.2 "A129T,D303N,I19V,R173Q,R255G,R443W,R79H,R85Q,S4C,Y288C" "0,0,0,0,0,0,0,0,0,0" 27238 7096 dbsnp30269 NP_116185.2 "D281N,E41K,I101V,L188V" "0,0,0,0" 94056 9618 dbsnp3027 NP_005108.1 "G181S,M109V,R127H,R127L,S147T,V20M" "0,0,0,0,0,0" 9965 12614 dbsnp30272 NP_060222.2 "A143T,A248S,A950V,D1101V,G1030R,I889L,K1057I,L145W,L420S,L496F,L527V,L615F,L931R,L974F,N723S,P70T,R370H,R610Q,S996L,V309I,V417G,W308R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54885 1583 dbsnp30276 NP_003437.2 "E145D,E219Q,G392D,L122V,R284C,R498H,T381I,T500A,V70M" "0,0,0,0,0,0,0,0,0" 7712 6554 dbsnp30277 NP_872346.3 "A742G,G646R,I27V,P637T,T641S,V282I,V749L" "0,0,0,0,0,0,0" 203522 2827 dbsnp30280 NP_068798.1 "C181R,D388Y,E190K,S127F,S170P" "0,0,0,0,0" 4674 7408 dbsnp30287 NP_689908.3 "A11S,P191S,Q263H,R324Q,V159I" "0,0,0,0,0" 203523 6355 dbsnp30288 NP_542432.2 "K59R,R137C,R181W,R87Q" "0,0,0,0" 11219 11293 dbsnp30292;dbsnp30293 NP_055550.1;NP_001070913.1 "A418T,E618Q,F746L,S794L,Y408C" "0,0,0,0,0" 9767 3076 dbsnp30294;dbsnp30295;dbsnp30296 NP_001009584.1;NP_061880.2;NP_001171697.1 "D152G,S155G" "0,0" 54470 10871 dbsnp30303;dbsnp30304;dbsnp30305;dbsnp30306;dbsnp30307;dbsnp30308 NP_001161952.1;NP_001161954.1;NP_001161957.1;NP_001161950.1;NP_001161951.1;NP_073749.2 "P243L,R9K,T156A" "0,0,0" 64860 5729 dbsnp30310 NP_001164663.1 "G477S,K188R,M589I,P321L,R150H,R411S,S517L,V546I" "0,0,0,0,0,0,0,0" 54857 5277 dbsnp30313 NP_997555.1 "E499A,M145V,P126L,R246W,R343Q,R490Q,S73N" "0,0,0,0,0,0,0" - 2955 dbsnp30314 NP_064522.3 "E578A,G766S,M198V,P179L,R299W,R396Q,R569Q,S73N,T840A" "0,0,0,0,0,0,0,0,0" 56850 2955 dbsnp30326 NP_009062.2 "L351V,M264L,R181Q,R181W" "0,0,0,0" 7626 6474 dbsnp30333 NP_061168.2 "G15R,S32G" "0,0" 55916 13046 dbsnp30337 NP_112563.1 "E133G,E23K,E62Q,G197R,G226E,G226R,R51K,S135N,T132S" "0,0,0,0,0,0,0,0,0" 56156 8419 dbsnp30338 NP_005360.3 R916K 0 4168 2108 dbsnp30341 NP_001165349.1 "A17V,D358H,D842N,E313K,E367K,F555L,G709V,H569Y,I788T,L503V,N594D,Y850C" "0,0,0,0,0,0,0,0,0,0,0,0" 4168 2108 dbsnp30345 NP_001280.3 P160A 0 1193 8384 dbsnp3035 NP_940918.2 "A323V,A396T,I158V,M495I,N475S,P183L,R399H,V534I" "0,0,0,0,0,0,0,0" 374378 5058 dbsnp30350 NP_001155963.1 "P159S,S215L,S253F" "0,0,0" 392509 11113 dbsnp30353 NP_059988.3 "A133T,A258T,D28N,R243T,S216C,T244A,V336M,W349C" "0,0,0,0,0,0,0,0" 55559 9248 dbsnp30354 NP_003390.4 "A398T,D270H,K232N,K385R,M125L,P198L,P41S,P627L,S168G,S396L,T215I,V223I" "0,0,0,0,0,0,0,0,0,0,0,0" 7512 4334 dbsnp30355;dbsnp30356 NP_001132938.1;NP_005638.1 "A5S,H26D,I54L,R30H" "0,0,0,0" 6907 5465 dbsnp30358 NP_620174.1 T132N 0 159091 13089 dbsnp30360 NP_116564.2 "C167R,F56L,H333R,I49V,K23E,K295Q,L214I,N96S,P43L,R248Q,R320Q,R354W,S199A,S86N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55998 4842 dbsnp30365 NP_001027004.1 "D59E,D59G,G86D,I259V,M105L,N269S,R127C,R234G,R23S,S220R,S28G" "0,0,0,0,0,0,0,0,0,0,0" 282808 11261 dbsnp30366 NP_002616.2 "H150R,K188N,M245I,N118S,R398Q,S41F,V249I" "0,0,0,0,0,0,0" 5207 6310 dbsnp30369;dbsnp30370 NP_057204.2;NP_899196.1 "N178T,R446G" "0,0" 51132 4863 dbsnp3037 NP_003130.2 "A312V,A31T,D178G,G483D,M405I,N45Y,R282Q,R335C,T485I" "0,0,0,0,0,0,0,0,0" 6734 4720 dbsnp30372 NP_001459.2 "C130R,L125V,P139R" "0,0,0" - 14111 dbsnp30380 NP_001153173.1 A20T 0 2273 10320 dbsnp30381 NP_001007089.1 "C65W,D35H,E216A,G122R,N75K,Q23R,T322S" "0,0,0,0,0,0,0" 7569 4652 dbsnp30384;dbsnp30385;dbsnp30386 NP_001182505.1;NP_001182507.1;NP_001182506.1 "G44R,L9F,V8I" "0,0,0" 100329135 14531 dbsnp3039 NP_001008778.1 "M121R,M121T,R207W,R290H,S76F,V31E" "0,0,0,0,0,0" 387778 11030 dbsnp30398 NP_665811.1 V77I 0 9131 4989 dbsnp3040 NP_060348.1 "R126C,R159W,R18C,V137I" "0,0,0,0" 54979 13683 dbsnp30400 NP_612146.1 "A177T,A223T,A296V,E229G,H271Y,I13V,K43I,R313S,S345T,S36T,V9I" "0,0,0,0,0,0,0,0,0,0,0" 139741 9042 dbsnp30403 NP_001002254.1 "D84N,H173Y,I184T,I33T,I96V,R100H,R210H,R77H" "0,0,0,0,0,0,0,0" 158835 10084 dbsnp30404 NP_695002.1 "E318A,L566M,R303K,R617P" "0,0,0,0" 257240 4655 dbsnp30406 NP_001386.1 "A151V,G155S,H136Q,I273T,P366L,R267Q,R349C,S29R" "0,0,0,0,0,0,0,0" 1852 8171 dbsnp30407;dbsnp30408;dbsnp30409 NP_003401.2;NP_001171556.1;NP_001171555.1 "D137N,E83Q,H155Q,K445N,N194S,T135M" "0,0,0,0,0,0" 7543 3178 dbsnp3041 NP_060563.2 P366L 0 54663 8896 dbsnp30411 NP_001011719.1 "C129R,G107S,G393R,L133V,M236V,M408I,P144T,P497A,R188H,R358C,R37H,R44G,R66Q,S214N,T156I,T218I,T387M,V143G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347527 5225 dbsnp30412 NP_005080.1 "E33G,H370Q,P383A,R460T" "0,0,0,0" 8233 6975 dbsnp30416 NP_001171889.1 G2E 0 30011 4423 dbsnp30417 NP_001032824.2 "C377S,E404K,E491Q,G437E,I656T,K224E,P203A,P318S,P458R,R144C,T546I,T622S,Y319C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57232 4520 dbsnp30419 NP_001013453.1 "M1T,T32I" "0,0" 90737 14252 dbsnp3042 NP_001004705.1 "A188T,I194T,L15F" "0,0,0" 390197 10555 dbsnp30421 NP_001137450.1 "A162S,E387V,L178F,M239I,P291L,Q203K,R300S" "0,0,0,0,0,0,0" 644353 8534 dbsnp30427 NP_001857.1 S16R 0 1349 14818 dbsnp30428 NP_848928.1 "A129G,P147L,P25L" "0,0,0" 158798 13047 dbsnp3043 NP_002306.1 A89V 0 4004 13596 dbsnp30433 NP_001013597.1 "P216L,R205H,R61Q" "0,0,0" 158833 8834 dbsnp30434 NP_001013867.1 "A112V,C53W,D51N,E97K,G139V,G155E,I68V,P153H,P65A" "0,0,0,0,0,0,0,0,0" 541578 13777 dbsnp30435;dbsnp30436 NP_001121160.1;NP_001073894.1 "R104S,R52W" "0,0" 56271 14408 dbsnp30437 NP_068768.2 "A1153T,R1132H,R1133Q" "0,0,0" 492 1258 dbsnp30439 NP_001182010.1 "C51S,H208Y,R62H,R63H,V152I" "0,0,0,0,0" 100288814 12666 dbsnp3044 NP_037397.2 "S455N,S690T,T559M,V209M,V580M,V635I" "0,0,0,0,0,0" 738 3345 dbsnp30440 NP_005626.1 "E120K,F101C,F25S,M71T,M71V,P141H,R169S,S123L,S130C,Y50C" "0,0,0,0,0,0,0,0,0,0" 6756 12355 dbsnp30444 NP_110390.1 "A249V,E155D,E165D,E210Q,G8V,L27F,M12T" "0,0,0,0,0,0,0" 79366 11248 dbsnp30445 NP_001026909.1 "H162R,L281F,R17S" "0,0,0" 140462 11017 dbsnp30450 NP_009162.1 "I249V,I574L,T432K,V466A,W408L" "0,0,0,0,0" 11254 3230 dbsnp30451 NP_001009614.1 "E37K,N21S,T29A" "0,0,0" 494118 13356 dbsnp30452 NP_775966.1 "D33V,H105P,H493R,S316F,Y106C" "0,0,0,0,0" 286464 6624 dbsnp30453 NP_001174.2 "E121Q,R180H,T388P,T76A" "0,0,0,0" 537 7214 dbsnp30454;dbsnp30455 NP_001165759.1;NP_001007552.1 "C136G,G104E,G83R,I73F,N101S,N101T,N123H,N91S,Q120H,R139Q" "0,0,0,0,0,0,0,0,0,0" 441521 13201 dbsnp30456;dbsnp30457 NP_803188.1;NP_803183.1 "I102F,Q103E,S296N" "0,0,0" 24140 10184 dbsnp3045;dbsnp3046 NP_079356.3;NP_001077395.1 "A231S,G195S,G296R,K242Q,Q158E,V33M" "0,0,0,0,0,0" 80150 10693 dbsnp30460 NP_005305.1 "C6S,K253N,L181F,L87M,P37L,S81N,V220I" "0,0,0,0,0,0,0" 2925 8599 dbsnp30463 NP_077027.1 "A12G,F19V,L166V,L42P,Q154K,R172Q,Y74H" "0,0,0,0,0,0,0" 79135 13026 dbsnp30464 NP_001106962.1 "A1032V,A556V,A834D,D443N,H266L,K818R,P982L,P986T,R142K,R146C,R514C,R549H,R833C,S419A,T899A,V600L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 154796 1772 dbsnp30466 NP_001164633.1 "E113D,G98S,L769F,N789K,T1257M,T167S" "0,0,0,0,0,0" 9203 1031 dbsnp30469 NP_940914.1 "G272R,K247N,L244W,M211V,R194Q,T240M" "0,0,0,0,0,0" 347516 8834 dbsnp30470 NP_997724.2 "A335T,H352Y,Q403H,R234H,R305Q,R30Q,R409H" "0,0,0,0,0,0,0" 402415 7618 dbsnp30472 NP_443168.2 "C324Y,D202N,E180D,R187C,R308Q,R93T,V171I" "0,0,0,0,0,0,0" 115201 8636 dbsnp30486 NP_001180207.1 "A529P,E294K" "0,0" 4281 4811 dbsnp3048;dbsnp3050 NP_001154945.1;NP_000685.1 "F57L,M393V,T319P" "0,0,0" 221 6518 dbsnp30493 XP_042978.6 "A187T,A934T,D1727G,M1498T,N1044S,Q767P,Q7H,R763H,S1434R,S563R,T175S,V207A" "0,0,0,0,0,0,0,0,0,0,0,0" - 522 dbsnp30494;dbsnp30496;dbsnp30497 NP_001243376.1;NP_005736.3;NP_001132913.1 "A236T,K243E,R39W,T128M" "0,0,0,0" 10134 10599 dbsnp30498 NP_006734.1 R145H 0 5935 13512 dbsnp30500 NP_001012773.2 "G9R,H14R,I199M,R17Q,R271H,S101G,V126M" "0,0,0,0,0,0,0" 401612 10728 dbsnp30503 NP_835469.1 "A75V,F34L,P145L,Y210S" "0,0,0,0" 340596 12544 dbsnp30504 NP_997203.1 "K93R,V165M" "0,0" 139562 10341 dbsnp3051 NP_000981.1 "I100V,L78V" "0,0" 6157 13955 dbsnp30510;dbsnp30511;dbsnp30512 NP_057691.1;NP_808817.1;NP_808816.1 F335Y 0 51566 9012 dbsnp30520 NP_115980.1 "E49A,E542K,L577S" "0,0,0" 84679 3824 dbsnp30523 NP_001032629.1 "A94V,T202M" "0,0" 6322 10185 dbsnp30526 NP_060246.2 "E130G,S114R" "0,0" 55634 13536 dbsnp30530;dbsnp30531 NP_808818.1;NP_055597.1 "A99T,G144W,G210R,R290W,V145A" "0,0,0,0,0" 9823 4779 dbsnp30533;dbsnp30534;dbsnp30535 NP_031389.3;NP_001138880.1;NP_001138881.1 M393I 0 4841 4018 dbsnp30537 NP_001017978.1 "A75S,M86K,S44F" "0,0,0" 203413 14512 dbsnp30538;hgmd0613_609 NP_001035963.1 "V360I,V98I" "0,0" 7355 8667 dbsnp30539 NP_001027460.1 R163H 0 7355 8667 dbsnp30541;dbsnp30542;dbsnp30543 NP_001164566.1;NP_001164563.1;NP_065117.1 "A75T,F158Y,L19S,R191H" "0,0,0,0" 9075 12334 dbsnp30544 NP_570131.1 "E69G,F96V,R4Q" "0,0,0" 170627 14559 dbsnp30549 NP_071400.1 "E607K,G640D,I472V,K384N,N473S,N521S,P156S,R689G,S137L,S18P,S498T,V632M" "0,0,0,0,0,0,0,0,0,0,0,0" 64061 4141 dbsnp3055 NP_006129.4 "G70S,N171H,N58Y" "0,0,0" 932 12657 dbsnp30552 NP_001551.1 "D403N,D72N,G184C,H398Y,L319F,P221S,R225S,R340C" "0,0,0,0,0,0,0,0" 3597 8009 dbsnp30553 NP_057692.1 "D382N,D73Y,K209N,V52A" "0,0,0,0" 51309 7542 dbsnp30554 NP_066294.1 "F108Y,G160A,M153I,R159S,R96C,T77A" "0,0,0,0,0,0" 10214 12355 dbsnp30555 NP_777572.2 "A280S,A362T,E95K,G495R,H462Y,P140L,R148H,R149C,R42W,R436H,V203L,Y518C" "0,0,0,0,0,0,0,0,0,0,0,0" 158584 6104 dbsnp30559 NP_444511.1 "A219E,A219V,D265N,E415D,E483G,G59D,L560F,M337T,M559I,P36L,R412K,T364I" "0,0,0,0,0,0,0,0,0,0,0,0" 117154 5154 dbsnp30561 NP_001316.1 "A228G,A263T,G252A" "0,0,0" 1478 4961 dbsnp30566 NP_004173.1 "Q149H,Q29K" "0,0" 8409 13571 dbsnp30568 NP_940852.3 "A129V,A46S,K185E,L250F,M91I,P48L,T242A" "0,0,0,0,0,0,0" 139322 11534 dbsnp3057 NP_065877.1 "A389V,G57R,R202S,R415H,T345S,V195I" "0,0,0,0,0,0" 57586 8022 dbsnp30572;dbsnp30573 NP_001164657.1;NP_777611.1 "A143T,A67T,D80N,K313E,K70R" "0,0,0,0,0" 171482 10103 dbsnp3058 NP_036591.2 "A90T,R62H" "0,0" 26521 14683 dbsnp30580;dbsnp30581 NP_001153032.1;NP_001012996.1 V4I 0 340542 14532 dbsnp30583;hgmd0613_719 NP_001164432.1 "A1013D,A436T,D310N,E1287D,G1131S,G716A,L395R,M1081I,N45S,N604T,P1080L,R1189Q,R899H,T1321I,T55M,V985A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3547 1082 dbsnp30587 NP_001229543.1 "A197T,G175S,G181E,K43E,R108K,V206I" "0,0,0,0,0,0" 83692 11451 dbsnp30588 NP_604395.1 R55K 0 83692 11451 dbsnp30598 NP_001186903.1 P113L 0 100529097 13851 dbsnp30608 NP_060353.2 "P100S,V328I" "0,0" 64743 6919 dbsnp3061 NP_001157869.1 "D246E,E96A,R405Q,S166W,T292R" "0,0,0,0,0" 642446 7597 dbsnp30612 NP_008909.1 "D255N,D336N,E245D,G242D,S95R" "0,0,0,0,0" 7737 9844 dbsnp30613 NP_543007.1 "F224L,L287S,S185N" "0,0,0" 27197 10004 dbsnp30614 NP_001017980.1 "A56T,N61S" "0,0" 203547 14642 dbsnp30617 NP_005184.1 "P105T,P67Q,S74L" "0,0,0" 1046 11212 dbsnp30618 NP_079435.1 "P164T,R274H" "0,0" 80231 10847 dbsnp3062 NP_003242.1 "R7H,T142M" "0,0" 7069 14001 dbsnp30621 NP_694853.1 S159L 0 170685 11088 dbsnp30622 NP_001166958.1 "A234T,E100K,R299Q,R299W,R630C" "0,0,0,0,0" 55922 4041 dbsnp30627 NP_006724.2 "F556S,F724L,H45R,I115T,M548L,N681S,V276M" "0,0,0,0,0,0,0" 2491 3563 dbsnp30628 NP_005627.1 N86S 0 6759 12355 dbsnp3063 NP_776172.1 "L208F,P42L,Q198R,V107A" "0,0,0,0" 283254 9694 dbsnp30630 NP_006080.1 T20I 0 10389 4075 dbsnp30631 NP_872347.2 "E79D,N22S,R57C" "0,0,0" 203562 13584 dbsnp30636 NP_004460.1 "H321R,M262I,R268H,R351Q,S350R" "0,0,0,0,0" 2277 9577 dbsnp30637 NP_976048.1 "G31A,G35S,R34G,R87T" "0,0,0,0" 389874 13386 dbsnp30638;dbsnp30639 NP_001120669.1;NP_001412.1 "A147V,A500V,G620C,R495C,R604C,V382I,V411M" "0,0,0,0,0,0,0" 2000 4454 dbsnp3064 NP_001035928.1 "A56T,G52E,G52R,T107P,T67M" "0,0,0,0,0" 283232 13577 dbsnp30640 NP_001026915.1 "A242V,G108R,R300C" "0,0,0" 158787 9013 dbsnp30642 NP_938020.2 "L531P,P656S" "0,0" 256643 4255 dbsnp30643 NP_060136.1 "A632V,I207M,K343R,Q216R" "0,0,0,0" 55609 2188 dbsnp30644 NP_071427.2 "I38V,R301H,T42A" "0,0,0" 64102 10492 dbsnp30645;dbsnp30646 NP_991402.1;NP_001164434.1 P237A 0 3547 1082 dbsnp30647 NP_004690.1 "A137V,I194N,R170Q" "0,0,0" 9130 9936 dbsnp30652 NP_006511.1 "A75T,V96I" "0,0" 6990 14462 dbsnp30658;dbsnp30659 NP_001161774.1;NP_001161773.1 R15C 0 90293 4505 dbsnp30663 NP_001026875.1 "T15M,T177M" "0,0" 54967 11619 dbsnp30665;dbsnp30666;dbsnp30667 NP_835225.2;NP_001165379.1;NP_001165378.1 "G155E,P153H,R28C,R54Q,W53C" "0,0,0,0,0" 91966 13777 dbsnp30669 NP_061876.3 "P170H,P236T,R187H" "0,0,0" 54466 11650 dbsnp30686 NP_777561.1 "A91V,E151K,K65E,L19F" "0,0,0,0" 171484 10103 dbsnp30688 NP_115887.1 "A83T,D93N,E69K,G68R,R151H" "0,0,0,0,0" 84528 11152 dbsnp30689 NP_006116.2 R734C 0 395 2216 dbsnp30690 NP_005287.1 "L54M,V45I" "0,0" 2846 9209 dbsnp30691 NP_803251.1 "I297T,L25W,L294V,R9C" "0,0,0,0" 139081 4662 dbsnp30694 NP_853510.1 G139V 0 3266 12288 dbsnp30695 NP_958443.1 "D540H,F258L,R671Q,T73M" "0,0,0,0" 158880 3964 dbsnp30697;dbsnp30698 NP_001112357.1;NP_002054.1 "A391V,F78L,T24M" "0,0,0" 2742 7333 dbsnp30701 NP_597846.1 I275V 0 55796 9261 dbsnp30707 NP_061990.2 "I135K,V674M,Y41C" "0,0,0" 56062 3569 dbsnp3071 NP_001243166.1 S260L 0 27315 9172 dbsnp30710;dbsnp30711 NP_573440.1;NP_570132.1 E33K 0 170626 14111 dbsnp30713 NP_006397.1 D105N 0 10549 11475 dbsnp30714 NP_071384.1 "M77I,P110A" "0,0" 63932 12505 dbsnp30717 NP_783642.1 "F108Y,M153I,Q159R,R96C,T77A" "0,0,0,0,0" - 12355 dbsnp30718 NP_001165160.1 A188T 0 9949 10085 dbsnp3072 NP_003977.1 "C3F,E112G,E81K,H15Y,H179Y,Q121H,R350H,R377P" "0,0,0,0,0,0,0,0" 8424 8857 dbsnp30722 NP_659406.1 "A149S,K277N,S194N,S303T,T335M" "0,0,0,0,0" 158866 9259 dbsnp30725 NP_001164227.1 "A242T,F130L" "0,0" 159090 11576 dbsnp3073 NP_060059.1 "A56G,D49N,M216V,R186C,R2K" "0,0,0,0,0" 54766 12481 dbsnp30730;dbsnp30731;dbsnp30732 NP_062831.3;NP_787055.1;NP_001137474.1 "A315T,M534T,R103H" "0,0,0" 56474 5256 dbsnp30733 NP_932174.1 "G28V,R158H" "0,0" 1831 12971 dbsnp30734;hgmd0613_1494 NP_006350.1 "M198I,R13H,R536Q" "0,0,0" 10479 3824 dbsnp30739 NP_001015038.1 "F98S,P84R" "0,0" 389860 14252 dbsnp3074 NP_689936.1 "E152K,E301D,E59D,N98K,V268I,V285M" "0,0,0,0,0,0" 220388 9117 dbsnp30740 NP_001009616.1 "P38Q,Q66K" "0,0" 494197 13356 dbsnp30741 NP_001244170.1 T3I 0 79868 1597 dbsnp30744 NP_065781.1 R268Q 0 1741 2212 dbsnp30746 NP_009151.1 "A161T,N68D,P283H" "0,0,0" 11238 10493 dbsnp30747 NP_006005.2 V141A 0 8270 14041 dbsnp30755;dbsnp30756 NP_775765.1;NP_001162625.1 E82K 0 139212 12667 dbsnp30757 NP_001244097.1 A94T 0 2002 5038 dbsnp30758 NP_061842.1 "H85Y,R134C,V119I" "0,0,0" 54328 9154 dbsnp30759 NP_057059.2 A16S 0 51616 11600 dbsnp30765 NP_001034299.3 "N35S,T92I" "0,0" 79868 1597 dbsnp30766 NP_997201.1 G25A 0 139231 8846 dbsnp30767 NP_001156737.1 N20D 0 9468 9230 dbsnp30769 NP_001129470.1 P51Q 0 54539 13674 dbsnp30771 NP_001164252.1 C59R 0 159091 13089 dbsnp30772 NP_001164253.1 T82S 0 159091 13089 dbsnp30776 NP_055147.1 Q31E 0 23676 14782 dbsnp30778 NP_001121640.1 "E110D,P95H" "0,0" 5063 5420 dbsnp3078 NP_001136171.1 "D65Y,F233Y,P471S,R431S,R525H,R525L,T119P,W684C" "0,0,0,0,0,0,0,0" 1740 2212 dbsnp30780 NP_068568.1 G20S 0 10761 12707 dbsnp30781 NP_001010888.3 "Q109R,R586H,R88H" "0,0,0" 340554 2700 dbsnp30782 NP_112564.1 "A157S,L248P" "0,0" 56157 8419 dbsnp30783 NP_001139190.1 "A111V,E198G,G56E,I190M" "0,0,0,0" 643311 10904 dbsnp30784 NP_001129705.1 "A604T,G612D,L362P,P303S" "0,0,0,0" 170067 2684 dbsnp30785;hgmd0613_1896 NP_061154.1 "A159V,A177T,H193Y" "0,0,0" 55906 12467 dbsnp30786 NP_001157888.1 "Q152E,R109H,R95H,S83R" "0,0,0,0" 286436 11759 dbsnp30789 NP_001182451.1 "D13E,P117L,P118S" "0,0,0" 347411 14162 dbsnp30792 XP_003119241.2 "G200R,P242L,R152Q,T155A" "0,0,0,0" - 9734 dbsnp30793 NP_001012986.2 R38K 0 139886 11650 dbsnp30796 NP_001230892.1 "Q503L,R606C,T383A" "0,0,0" 57631 3479 dbsnp30800;hgmd0613_1568 NP_009006.2 A24T 0 11152 9406 dbsnp30802 NP_001129745.1 "A148T,G358S" "0,0" 139735 8268 dbsnp30803 NP_001138545.1 "G186E,M347V" "0,0" 389856 3964 dbsnp30806 NP_001034680.2 H1979Q 0 8239 221 dbsnp30808 NP_001094827.1 E152K 0 347475 10288 dbsnp30816 NP_001156736.1 R20C 0 9468 9230 dbsnp30817 NP_002756.1 M281V 0 5634 10386 dbsnp30823 NP_872600.1 E34G 0 7404 912 dbsnp3083 NP_115800.1 "F180L,M287V,N122D,V205I" "0,0,0,0" 84437 9802 dbsnp3084 NP_055039.1 "D220N,D233E,E341K,G383S,I228L,I314N,N262K,R369H,V321I,V353L" "0,0,0,0,0,0,0,0,0,0" 5222 8560 dbsnp30848 NP_000999.1 D143H 0 6192 11640 dbsnp3086 NP_976249.1 "E113G,G111R,Q125R,R96H" "0,0,0,0" 387758 12720 dbsnp3089 NP_001034637.2 "C308W,D403N,D42Y,S361N" "0,0,0,0" 283212 5371 dbsnp3090 NP_006235.1 "Q455K,R174L,R364C,T272M" "0,0,0,0" 5526 5119 dbsnp3091 NP_004552.2 "P47L,P58L,V229I" "0,0,0" 5017 11383 dbsnp3092 NP_006269.1 "K174R,K50Q,N284K,P41L,R27Q,R316Q,V119M" "0,0,0,0,0,0,0" 6484 10075 dbsnp3096 NP_997237.2 "R39H,V231I,V437M" "0,0,0" 338692 5084 dbsnp3097 NP_060174.2 "T99A,V46I" "0,0" 54851 12149 dbsnp3098 NP_001001392.1 C103Y 0 960 3680 dbsnp31 NP_001240837.1 "A25P,F15C" "0,0" 8644 10233 dbsnp3100 NP_001012393.1 V9F 0 4978 9546 dbsnp3101 NP_003469.2 V680I 0 8065 3365 dbsnp3103 NP_660352.1 "E13K,G118R,R155H,R177C,S162R" "0,0,0,0,0" 220074 13138 dbsnp3108;dbsnp3109 NP_001070707.1;NP_997226.2 "A24V,N61S,P16S,Y380C" "0,0,0,0" 257160 4054 dbsnp3110 NP_003763.2 "N158K,P316Q" "0,0" 8690 6209 dbsnp3111 NP_694998.1 R277C 0 256472 5612 dbsnp3113 NP_004347.1 "V135M,V211M" "0,0" 975 12206 dbsnp3114 NP_055317.1 "A487T,G350S,V20L" "0,0,0" 27339 6590 dbsnp3115 NP_001025030.1 "D3N,E72D,M249V,R119H,R64Q" "0,0,0,0,0" 283219 11710 dbsnp312 NP_001003408.1 "D297N,D738N,G100S,G455S,G662V,K531E,N175K,P157L,P402T,Q726R,R292W,R310W,R52Q,R596Q,R605G,R605H,T11M,V546I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3983 3377 dbsnp3122;dbsnp3123 NP_001137543.1;NP_659409.2 "G32S,R112L,V140L" "0,0,0" 160287 8956 dbsnp3124 NP_001001917.2 "A160V,C176F,I255V,I261M,I78T,P86S,R302Q,Y94F" "0,0,0,0,0,0,0,0" 120796 9304 dbsnp3125 NP_001998.1 "I160M,L161F,P175S" "0,0,0" 2249 12778 dbsnp3126;dbsnp3127;dbsnp3128 NP_057535.1;NP_001137533.1;NP_001137534.1 "I915V,M436R,R539S" "0,0,0" 1315 2321 dbsnp3129 NP_004256.1 G104S 0 9415 6644 dbsnp3130 NP_955369.1 "P60L,R215C" "0,0" 374395 12553 dbsnp3132;dbsnp3133;dbsnp3134;dbsnp3135;dbsnp3136 NP_001158309.1;NP_001158303.1;NP_071286.1;NP_001158308.1;NP_001158304.1 G73R 0 53826 14031 dbsnp3140 NP_001003678.1 "D264E,G253R,H19R,L9I,R282Q" "0,0,0,0,0" 79096 9971 dbsnp3141 NP_001003677.1 R307W 0 79096 9971 dbsnp3144 NP_002563.1 D176N 0 5049 12302 dbsnp3145 NP_071344.1 S4W 0 63875 13460 dbsnp3146 NP_001129958.1 "E242V,E96A,I58T,S74A,V238M" "0,0,0,0,0" 120146 7597 dbsnp3147 NP_036236.1 M470L 0 23621 6633 dbsnp315 NP_060252.4 "A1165V,D1994Y,E2399K,F2198V,G1511D,G997S,I2370V,K192Q,L1587W,L1986Q,L557I,M358V,N556I,P2397S,P247R,P984L,R726H,S1099L,S2065I,S2082T,T320S,V1345G,V2171I,V224F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54906 265 dbsnp3153 NP_114404.1 L202F 0 79102 7900 dbsnp3154 NP_001243334.1 M1V 0 22992 1522 dbsnp3157 NP_001185773.1 "K152Q,T155R" "0,0" 5936 9330 dbsnp3158 NP_001032302.1 T102S 0 283129 12615 dbsnp3166 NP_001656.2 A45T 0 391 12659 dbsnp3167 NP_057610.2 "L53V,R19W,V62M" "0,0,0" 51272 14526 dbsnp3169 NP_859057.4 "A128E,D94G" "0,0" 120526 13936 dbsnp3170 NP_997528.2 "G160S,P169S" "0,0" 399947 13038 dbsnp3175 NP_057134.1 R142C 0 65003 13139 dbsnp3180 NP_006636.2 D258Y 0 10809 11081 dbsnp3181 NP_619634.1 S105G 0 26472 4209 dbsnp3182 XP_003119231.1 "E112K,I6V" "0,0" - 14418 dbsnp3183 NP_059986.1 I175V 0 54734 12595 dbsnp3198 NP_115675.1 "R234H,S41C" "0,0" 84259 11061 dbsnp3199 NP_001012521.1 "C35R,C36S,C70S,Y98C" "0,0,0,0" 440050 11311 dbsnp32 NP_002403.2 R40C 0 4255 12167 dbsnp3202 NP_001185599.1 "P11A,R165H,R169W,T210M,T93I" "0,0,0,0,0" 219902 11553 dbsnp3209 NP_996881.1 "D67Y,Q45H" "0,0" 404552 14751 dbsnp3210 NP_001182457.1 "D213E,G157S,P23S" "0,0,0" 100507050 8943 dbsnp3214 NP_776171.1 Y24H 0 283237 13530 dbsnp3215;dbsnp3217 NP_001076438.1;NP_060665.3 E120Q 0 55216 11031 dbsnp3218 NP_001160164.1 K187E 0 100131378 13124 dbsnp3219 XP_003119222.1 S39L 0 - 13701 dbsnp3220 NP_114115.2 "A146T,P175T" "0,0" 114900 10175 dbsnp3223 NP_036437.1 P621S 0 161 2195 dbsnp3225 NP_783859.1 L80R 0 114971 12947 dbsnp3227 NP_079087.3 R461T 0 79869 6412 dbsnp3234 NP_055567.2 E76K 0 9789 12423 dbsnp3235 NP_001012728.1 "D73G,G8R,V46I,Y31C" "0,0,0,0" 387273 11311 dbsnp3238 NP_061894.2 "D39E,P99S" "0,0" 54494 13979 dbsnp3239 NP_001138549.1 E68Q 0 390205 11052 dbsnp3240 NP_001229782.1 A51V 0 100129216 14877 dbsnp3241 NP_001129957.1 G49S 0 254439 14474 dbsnp3242 NP_001137447.1 "G307D,I63V,S239T" "0,0,0" 642623 8732 dbsnp3243 NP_653265.3 R89H 0 143684 9932 dbsnp3244 NP_001129577.1 F17C 0 120376 13838 dbsnp3249 NP_808760.1 N111K 0 55766 9171 dbsnp3251 NP_001027581.1 "G397R,L386F,S414C,W404C" "0,0,0,0" 4938 1764 dbsnp3255 NP_001106674.2 "A565V,A682G,E626K,F405S,I769M,K149E,K416R,K818N,L688P,P490R,P77L,S642T,V336E,V401I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4666 2467 dbsnp3257;hgmd0613_1378 NP_005496.4 "G2S,G319V,G404R,M28T,P376L,S129L,S229G,S271P,V111M,V135I,V234M,V331I,V454F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 949 5808 dbsnp3258 NP_001076428.1 "G481R,G499R" "0,0" 949 5808 dbsnp3265 NP_005471.3 "A169V,A705V,C509S,L250P,N703S,P109S,P178A,P184S,P333L,P506S,P534S,P679L,Q370H,R143C,R265C,R331H,R356Q,R48G,S486C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10024 3381 dbsnp327 NP_001129224.1 R376M 0 11319 4300 dbsnp3287;hgmd0613_1986 NP_066973.2 "A322T,E135K,I497V,I534L,Q769E,R817Q,T215R" "0,0,1,1,0,0,0" 23426 1797 dbsnp3292 NP_001971.2 "A85E,F32V,G279R,I81V,I95V,K54R,R107Q,R116I,S120L,S42T" "0,0,0,0,0,0,0,0,0,0" 2054 11118 dbsnp3297;hgmd0613_745 NP_001233.1 "A164P,F210I,F210V,M199T,R131W,R85W" "0,0,0,0,0,0" 939 11701 dbsnp3301 NP_055585.1 "E102Q,F7I,H2R,I750M,L157F,M110T,R469Q,S326N,V8I" "0,0,0,0,0,0,0,0,0" 116986 1439 dbsnp3302 NP_001116244.1 "A260D,R142H" "0,0" 116986 1439 dbsnp3303 NP_001138430.1 "A128V,A71T,A98T,D148V,D63E,E154K,G289D,G671A,H136P,H212Q,L218Q,R383W,R466G,R466W,R650W,R7G,T281N,T712A,V132L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84766 3774 dbsnp3308 XP_001127575.4 "G179D,G232D,G403W,I345F,K24R,M1T,P361S,P98L,R151C,S236T,S47N,Y347C" "0,0,0,0,0,0,0,0,0,0,0,0" - 6382 dbsnp3312 NP_001138482.1 "D104G,G196E,K154E,N10D,N157S,S198N,T152M,T252M" "0,0,0,0,0,0,0,0" 341346 9841 dbsnp3315 NP_001167601.1 "T3M,Y6S" "0,0" 4891 5270 dbsnp3319 NP_001073626.1 "D60N,E251K,G162E,L341V,P107L,P171L,P204S,P245L,R137H,R50G,R55G,R5Q,R620W,R636H,S370A,T252M,T34I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64333 3611 dbsnp3336 XP_933305.5 "A695S,D198G,D311N,E282A,E383K,E592K,G200D,I469V,I543F,I646S,K40T,L163P,L380M,M64K,N248D,Q533H,S240L,S258F,S435N,T333K,V361I,V60I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 4116 dbsnp335 NP_001159451.1 "P71L,T59M" "0,0" 51196 302 dbsnp3350 NP_872414.3 "D238N,K440T,M170T,P297L,P395R,P85L,Q257R,R199Q,R249W,R441K,R75W,T313N,T313S,V26G,V270M,Y140F,Y188C,Y188F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341405 7559 dbsnp3353 NP_001243759.1 "A93S,F11C,H119Y,P172L,T129M,T72S" "0,0,0,0,0,0" 41 5506 dbsnp3355 NP_008923.1 "E276G,R295K" "0,0" 10233 9831 dbsnp3356 NP_067653.3 "G351S,H353P,H353R,H3D,H55D,M25K,Q300K,Q4H,Q4R,R188Q,R243Q,R302Q,R363H,R80Q,T21I,T354I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60314 9075 dbsnp3359;dbsnp3360;dbsnp3361 NP_776163.1;NP_001129335.1;NP_001129336.1 "A94S,L195V,L241F,R221W,R70W,V237I" "0,0,0,0,0,0" 254013 11652 dbsnp3376 NP_872365.1 D201E 0 283471 9709 dbsnp3388 NP_056094.1 "L203V,N433D,P583L,P686L,Q133H,Q240H,R116C,R479Q,V589I" "0,0,0,0,0,0,0,0,0" 23329 2474 dbsnp339 NP_001001851.1 R679H 0 80760 2377 dbsnp3394 NP_998820.3 "A1277V,A141T,A149V,A2132T,A735E,A735G,A735P,C1758S,C733F,C733G,C733W,D527G,E1772D,E226V,F727L,F858L,G2593S,I1234V,I509T,I694T,I726L,I726N,I901L,L1422V,L2551V,L728P,L728R,L729P,L729R,L729V,L730F,L730V,L730W,L732P,L732R,L737F,L737P,L740F,L740P,L740V,L996F,M2060I,P193Q,P2075L,P731A,P731L,P734S,P738Q,Q1274H,Q1276H,R2197C,R2209H,R716C,R716H,R788C,R945W,S1445N,S2460R,S719G,S736F,S736P,S736T,T1262A,T1308P,T1704A,T2203A,T619A,T665I,T674A,V1120L,V1774M,V739G,V739L,V739M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65125 203 dbsnp3399 NP_899234.2 "A1056S,A881P,C419Y,D164N,E696G,I1024T,I198V,K1029R,K468E,L945P,M1028I,M1111I,N369S,P437L,R371C,R715C,R81Q,T103I,T444I,T917M,V339A,V407I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341350 1604 dbsnp340 NP_085046.5 "A250V,A376V,A552V,A609S,A792P,D594N,E139K,F66L,H364R,I270T,I540V,K116N,M51I,M938L,N421H,N910S,P204L,P222L,P36L,Q430H,R330C,R339W,R396G,R460H,R487H,R613G,R613H,R629C,R936Q,S469L,T414M,T570P,T570S,V461M,V496M,V652M,V871A,V878I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80760 2377 dbsnp3402 NP_001153880.1 "A296E,C438R,D187N,D187Y,E19K,G295R,G85D,N342D,N357D,P494L,R211G,R380H,R59Q,S370T,V107I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7289 5674 dbsnp3429;hgmd0613_2115 NP_085911.2 "A848V,M838T,V858I" "0,0,0" 1663 2236 dbsnp3430;dbsnp3431;dbsnp3432 NP_001158218.1;NP_001158220.1;NP_001158219.1 "A365V,L388Q,R171C,R208H,T162A,T162S,V218A" "0,0,0,0,0,0,0" 11228 8180 dbsnp3435 NP_001092008.2 R43G 0 11272 14181 dbsnp3452 NP_001123305.1 I1295V 0 775 330 dbsnp346 NP_001100.3 "A449V,A490T,A780T,C566R,E158G,E527K,F657L,G101R,G360S,G501D,G579V,G722V,H625Y,I775T,N241S,P719L,P739L,R189W,R21W,R281Q,R433C,R482W,R590Q,R590W,R601C,R682W,R768W,V690M,W35R,W598C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 101 3064 dbsnp347 NP_001157962.1 "L46F,R66Q,R84C" "0,0,0" 101 3064 dbsnp3470 NP_002714.2 "A209P,E17G,G38E,G44A,G59A,G59V,I4T,P116H,P123R,P137H,P167L,P194A,P50T,P52L,Q105P,Q184K,Q69R,Q90H,R122G,R81P,R81Q,S173F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5545 8251 dbsnp348 NP_001157961.1 "R654C,R724H" "0,0" 101 3064 dbsnp3487 NP_060639.3 "D612Y,E1301K,F649C,H1292R,H1498N,H1658R,H712R,K1060E,K1398T,K1497R,K1611E,L588F,L627Q,M303V,M484V,M582T,M78T,N647D,P1119L,P7T,Q468E,R1072H,R175Q,S1331L,S1352Y,S1436T,S308R,S352R,S613G,S648T,S648Y,S864L,S981L,T230S,T363A,T811A,V146I,V1486L,V1486M,V703I,V788M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55196 592 dbsnp3496 NP_003288.2 "G51S,H37Y,I4M,Q520L" "0,0,0,0" 7181 4977 dbsnp350 NP_079162.1 "A178T,A85S,G43W" "0,0,0" 79946 11766 dbsnp3510 NP_001177793.1 "N190K,V187I" "0,0" 60488 10319 dbsnp3530 NP_076983.1 "A279T,A345T,A351D,A415T,D190N,E148G,Q170R,R374G,R443H,R55H,S215F,T184S,V153L,V231M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79050 6383 dbsnp354 NP_001030126.1 "C611W,D458N,G1187E,G175V,G52R,G870V,H716R,H982Y,K1277R,K533E,N435S,P249T,P252L,P643L,Q857R,R1121H,R1195W,R365Q,R529H,S1091N,S151T,S572L,T237A,T237M,T409A,T624M,V366M,Y485C,Y79C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10580 1176 dbsnp3543 NP_001123892.1 "E886K,L339V,P1074A,P1074T,P1089S,R444G,R444W,V1104M,V618A" "0,0,0,0,0,0,0,0,0" 6601 1384 dbsnp355 NP_001030127.1 A452S 0 10580 1176 dbsnp3554 NP_031359.2 "I243K,K244I" "0,0" 3823 11767 dbsnp3561 NP_115714.1 "K20M,K20T" "0,0" 84298 14262 dbsnp3567 NP_001027903.1 S163R 0 4939 3888 dbsnp3575 NP_001193583.1 "A1689T,A1990T,A1994V,A454S,A977G,E831K,G1542S,G1910S,G2208S,G763E,H52R,N2292D,P1991S,R1216H,R1761C,R85W,S2294G,T1389M,T1556M,T1810M,T2199P,V1107I,Y468C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9612 236 dbsnp3579 NP_001139200.1 "A285T,A311T,E20K,E288G,F213L,G178D,P238L,R31K,R388L,S361A,T310A,T387S,V218I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 160492 8410 dbsnp3584 NP_001009562.3 "A335T,A338T,F248Y,F454L,G545E,I198V,K244E,P107L,P47A,T394I,V167A,Y311C" "0,0,0,0,0,0,0,0,0,0,0,0" 338821 4062 dbsnp3585 NP_775862.3 "A1543S,A2132T,C1370Y,C2068G,C2210S,D1079G,D1895N,D987N,E1627K,G301E,H649L,I1053F,I1134V,I1840V,I2074V,I2086V,I2279M,I367V,L1287R,L1829V,L2125F,N1678S,N1886K,N2237S,P1809H,P2278S,Q1102H,Q1216H,R1986Q,R2314Q,S1349N,S1633F,S1650F,S810L,T2200I,T512A,V1720L,V2225I,V2281A,W1819R,Y1367D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283310 289 dbsnp3586 NP_653271.2 "A1190V,A751V,D287E,E1301D,E725K,E750A,F370S,G748E,I304T,K288R,L1201F,M1257V,M1364V,P1321L,Q1340K,Q958H,R1122W,R802H,S1127L,T53M,T53R,V1091A,V1294I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144568 895 dbsnp3587 NP_891992.2 "D219N,D96E,G496R,N473D,P138L,P55R,Q277H,R2Q,R506L,S501R,T515K,V75I,Y35C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 115557 4929 dbsnp3591 NP_001091112.1 "A315T,F252L,H65Q,L281W,Q210H,R120C,R120H,R120S,S248P,T69I" "0,0,0,0,0,0,0,0,0,0" 259293 10420 dbsnp3592 NP_001137259.1 "D25E,D307N,E26D,N423T,P343L,Q341P,R126W,R89K,V118M" "0,0,0,0,0,0,0,0,0" 51535 7443 dbsnp3596 NP_006391.1 "P140A,T201P" "0,0" 10540 8468 dbsnp3599 NP_055841.2 "A1709P,A392T,A548T,A571V,E1002K,E1626D,G725R,G846V,I1091T,I1215T,I1385V,I1623K,I1623T,N418S,Q1270H,Q531R,Q825R,S144F,S19N,T440A,T840A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23041 622 dbsnp3600 NP_006009.2 "C18R,F198L,H253R,I346M,R187W,R311C,R3W,T173P,V103G,V83L,V83M" "0,0,0,0,0,0,0,0,0,0,0" 8843 8853 dbsnp3605 NP_002197.2 "A1068V,A204T,A466T,C16G,E47K,E882K,G857S,I153M,I765V,I901V,I997T,L536F,M716L,P95L,Q539H,Q849E,R1109W,R275H,R537W,R542H,R651H,R800C,R913W,S417G,V309F,V561M,V959A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3679 1477 dbsnp3607 NP_001138469.1 "G23R,T13I" "0,0" 3679 1477 dbsnp360;dbsnp361 NP_001120654.1;NP_060601.3 "A244P,E24K,E321K,G227D,H214N,H214R,I172V,L59F,R298K,R348K" "0,0,0,0,0,0,0,0,0,0" 55165 7321 dbsnp3610 NP_057137.1 "D187G,E177K,S191F" "0,0,0" 51019 13104 dbsnp3619 NP_065106.2 "A974P,D867E,I547V,L467M,M396I,M922V,P143S,P825L,R275L,R879Q,S500A,S990L,V108A" "0,0,0,0,0,0,0,0,0,0,0,0,0" - 2095 dbsnp3621 NP_001120932.1 "F208C,G1021C,H284Y,I633K,I633V,I801M,I971T,P727S,P799L,R478Q,R571H,R735C,T168A,T196M,V326M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9924 1415 dbsnp3627 NP_001229625.1 "N5S,R38Q,S12P" "0,0,0" 283403 14037 dbsnp3628;dbsnp3629;dbsnp3630 NP_006143.2;NP_001191055.1;NP_001191056.1 "A469V,C197S,E277Q,I78T,K408E,L141V,L52P,L52Q,P361T,S63L,T35S,T38A,T77M,T83I,V176M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4033 5766 dbsnp3633 NP_060742.3 "A606G,I565V,M650T,R348Q,R39S,T530A,V588I,V632G" "0,0,0,0,0,0,0,0" 55259 3864 dbsnp3660 NP_073149.1 A106S 0 3224 11107 dbsnp3662 NP_001136151.1 "H852Y,R863C" "0,0" 196527 2429 dbsnp3663 NP_001136150.1 M1K 0 196527 2429 dbsnp3667 NP_001103224.1 "A710S,A773D,D1042V,D57N,D633E,D734N,E156D,G180S,G2152A,G464S,I1490L,I717M,N1549S,R1446W,R1874H,R312K,S345G,T1157M,T1250I,V1550I,V613A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5787 333 dbsnp3669 NP_055769.2 "G333R,L25R,L263S,M237T,P16S,P188L,Q289H,R199Q,R19Q,R242Q,R41K,R78H,V460L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 22895 4129 dbsnp3679 NP_001160158.1 "H2L,R18L" "0,0" 5213 2897 dbsnp368 NP_001159444.1 "A138P,P199A" "0,0" 10718 3876 dbsnp3686 NP_001153048.1 "P33L,P37L" "0,0" 6337 3804 dbsnp370 NP_001009943.1 "A103T,A128G,A54P,D219N,G216W,G30R,I286V,M62V,R303Q,S302N,V268M,Y196C" "0,0,0,0,0,0,0,0,0,0,0,0" 54522 9387 dbsnp3700 NP_001186710.1 "I267T,R554Q,S231Y,V193G,V313I,V503I" "0,0,0,0,0,0" 100528030 5391 dbsnp3709 NP_057607.1 "L67F,V47M,W36L" "0,0,0" 51348 12295 dbsnp3711;dbsnp3712;dbsnp3713 NP_001230719.1;NP_001230720.1;NP_001230718.1 "H143P,H143R" "0,0" 23583 11481 dbsnp3719 NP_001186734.1 T72A 0 100528032 12607 dbsnp3720 NP_031386.2 T72A 0 22914 12607 dbsnp3726;dbsnp3727 NP_057206.2;NP_001035858.1 "A146V,I184T,Q452K,R209Q,R276W,R630Q" "0,0,0,0,0,0" 51134 4069 dbsnp3744 XP_002343192.1 "A1109P,A1109T,A595V,C1240F,C1240W,D1288V,F1031L,F1040Y,F1265V,F474L,G620V,G959S,H1375Q,I1024L,I1381V,L508I,L514P,L587V,L953F,M947L,N355S,P693A,P956S,Q1217R,R1199W,R1292H,R153W,R290C,R842K,S1056P,S1379T,S789L,T211M,T43M,V1289A,V1328A,V454I,V457L,V519I,V580G,V928A,V928E,W1025R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 934 dbsnp3750 NP_001166028.1 "R1098Q,R1113H,R1116Q" "0,0,0" 2802 830 dbsnp3751 NP_694567.1 "M1I,N163K,P62Q,R52C,R52H,W3C,W3L" "0,0,0,0,0,0,0" 120939 13666 dbsnp3752 NP_847884.2 "N143K,N143S" "0,0" 353116 8526 dbsnp3753;dbsnp3754 NP_001128667.1;NP_775867.2 "E49K,G456A,H8R,L19S,L447P,P501L,R130C,R243Q,R243W,R443Q,R84L,R84Q,S374T,S4P,T506M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283375 5994 dbsnp3769 NP_060693.2 "P138L,V141I" "0,0" 55743 4437 dbsnp3773 NP_001193774.1 "E271K,E82D,F39L,G253R,G67V,N80I,R91Q,R94Q,S259R,V76M" "0,0,0,0,0,0,0,0,0,0" 83445 9368 dbsnp3774 NP_001074023.1 "L244F,T265I" "0,0" 83445 9368 dbsnp3782;dbsnp3784 NP_620048.1;NP_620049.1 "A28T,D15G,G261E,I208M,I22T,K149Q,P259T,Q117R,R292W,S306L,V196I" "0,0,0,0,0,0,0,0,0,0,0" 79370 10225 dbsnp3789 XP_001715949.2 "C536Y,C642Y,D1121V,D483Y,E162K,F1071S,F906C,G279V,H1097Y,H1270R,I1205L,I363M,I478L,K884R,L917M,M644V,N325S,P1125T,P41L,P651L,P668L,Q120E,Q421H,Q42P,Q859K,R127W,R403Q,R637Q,R665H,R776L,S384G,S713L,S929G,V898A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 934 dbsnp379 NP_003629.1 "A1027T,A848S,A935T,A994T,E610K,E815D,F774Y,F974S,G449R,H392R,K413E,L284S,N1005D,P161L,P161Q,R790K,R790T,S512P,T304M,T838A,V446I,W805R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8516 1847 dbsnp3799 NP_065751.1 "I404V,I65V,M252I,P461Q" "0,0,0,0" 57460 6413 dbsnp3807 NP_001032895.2 "A1066S,G495S,G691D,G723A,G723V,L326M,M1299V,P1098A,S681P,T692I" "0,0,0,0,0,0,0,0,0,0" 57701 1100 dbsnp3813 NP_803193.2 "C453R,D454G,D65N,E877A,E929Q,G370R,K806N,L95R,N30I,N30S,P429R,Q168H,R254W,R790W,R949H,V117I,V122M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8496 2065 dbsnp3817 NP_056296.1 "D102E,P229L" "0,0" 25946 8878 dbsnp3822;dbsnp3823 NP_005033.1;NP_001103683.1 "N66D,R46H,S38F" "0,0,0" 5555 8251 dbsnp3831 NP_598011.1 P76R 0 1634 11917 dbsnp3837 NP_001772.1 "E87K,G91D,H116R" "0,0,0" 969 12984 dbsnp3838 NP_006073.2 "E447K,T337N" "0,0" 10376 7568 dbsnp3849 NP_003985.2 G174V 0 4254 11404 dbsnp3873 NP_973731.1 "A402E,F488L,M204T,P528L,P622T,P707R,P711L,R164W,R350C,R364W,R6C,S180R,S543L,S681P,S717L,T446I,V379L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2305 3208 dbsnp3875 NP_031376.3 "A257T,H385P,I73V,P16S,P388L,S146I,V303I" "0,0,0,0,0,0,0" 22822 8568 dbsnp3879 NP_001180382.1 "C79G,H190Q,I60M,K225E,V211F" "0,0,0,0,0" 89894 9972 dbsnp3887 NP_001004419.1 "M181V,P179A" "0,0" 29121 13105 dbsnp39 NP_000675.1 "A343T,A40T,D382G,E352D,G389V" "0,0,0,0,0" 153 7055 dbsnp3908 NP_001241647.1 "S1166F,V1158L" "0,0" 4604 1498 dbsnp3909 NP_001241652.1 "G1107A,V1119I" "0,0" 4604 1498 dbsnp3913 NP_001094891.3 "A255T,D296V,E328G,F676L,G493S,G648R,H695Y,K1009E,L1001P,L32F,M66T,N254S,N31D,P588S,P796S,R216C,R729H,R773W,R795K,S257C,S37R,T6I,V276L,V350D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283446 1846 dbsnp3919 NP_055718.4 "A495V,G1891D,L1491I,P1741L,S1625F,S1704F,S210L,S210W,S510N,S53F,S709N,T1295M,T45A,V20M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89795 272 dbsnp3920 NP_777601.2 "A123G,A1327T,A312S,E1188K,E1254K,E860K,I1172F,M688T,M754V,N241I,N52S,P4L,R1249C,R460Q,R591L,R603W,R99H,S1166N,S1356P,S1441W,T1174A,T1174P,T1307A,T574I,V286I,V416I,Y599N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283316 898 dbsnp3931 NP_115606.2 "E303K,K499R,L72R,R540Q,S67A,T210I,T38S,W446L,Y476C" "0,0,0,0,0,0,0,0,0" 84190 5103 dbsnp3942;dbsnp3943 NP_001242992.1;NP_001242993.1 V619I 0 1272 1938 dbsnp3948 NP_001191147.1 "A1093V,A363T,D241N,D394A,G595S,G898D,L216P,N725D,N861S,P228S,P350L,P846L,P853S,Q1098R,R23H,R850C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4842 871 dbsnp3949 NP_002251.2 "F102S,H181R,M223I,N2S,R107K,T108M,T7I,Y129C" "0,0,0,0,0,0,0,0" 3822 11767 dbsnp3957;hgmd0613_566 NP_001013642.1 "A26P,D386N,E217K,G179R,G198R,H353R,K215R,L110S,L253W,L306V,L420F,T451I,V73I,V76I,Y112C,Y35C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144245 7145 dbsnp3961 NP_057239.4 "A129G,A129T,A182S,A182T,D462E,D529N,L78M,N195K,N440D,P313L,P64A,R147Q,R279C,R279H,R553H,R553L,T458R,T74K,V413I,V560I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4326 5104 dbsnp3967 NP_001139418.1 "G536D,I174M,K701I,L702S,N309K,P143T,R197C,S389F,S677F,V687F" "0,0,0,0,0,0,0,0,0,0" 53919 3783 dbsnp3973 NP_001005519.2 "A298G,A307P,A45T,A73V,C187R,E109A,F110I,L12P,L164P,M116V,R309L,S241L,T91K,T91M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403284 10547 dbsnp3975 NP_056224.3 "A1649T,A2152T,A2654V,A3044V,A3046V,A3094T,A450S,A471V,A574V,D1212G,D1212N,G2088R,G2088W,I425V,K1143R,K2072T,L880V,M1376I,N1478S,N2404S,N86S,P1659L,P1763S,P1812L,P2033S,P2796S,P2805S,P581L,P581T,P628L,Q2820P,R1746S,R2719K,R818C,S1775I,T2750M,T2808A,V1157I,V171M,V2229F,V3021M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57634 129 dbsnp3978 NP_116203.2 "I383V,L229V,T201M" "0,0,0" 84900 7694 dbsnp3983 NP_001123887.1 "A190V,I134V,L247F,Q182H,R10L,R181L" "0,0,0,0,0,0" 81575 11299 dbsnp3984 NP_079279.3 "A1345V,A1601T,A431T,A804V,C1223R,D1203Y,E1789Q,E577K,E587K,E915D,G1365R,G1375E,G1535W,G1888S,G647V,G921S,H1094D,H1422Y,I1150T,I1672T,I1738R,I1877R,L1795S,L517I,M221L,N1004S,N1774S,N1852S,Q1494E,R1122C,R315H,R482Q,R582H,R653H,R653S,R750H,S1428L,T1810I,T872A,V308G,W1663G,Y1237C,Y1364N,Y200H,Y483H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80070 462 dbsnp3987 NP_061907.2 "A161T,K204Q,M156L,R122C,R178Q,T118M" "0,0,0,0,0,0" 54509 12721 dbsnp3998 NP_001245332.1 G718R 0 9498 1383 dbsnp4006 NP_116218.2 "P19R,S33G,S358I,S395T,T432M" "0,0,0,0,0" 84915 7560 dbsnp401 NP_001137230.1 I363V 0 80313 6132 dbsnp4014 NP_060933.3 "D27N,E180D,I23V,R248H,V240M,V370I,V370L,Y381C" "0,0,0,0,0,0,0,0" 55846 7645 dbsnp4030 NP_612460.1 "A291S,E204K,E279K,G327S,K28R,L136V,R191H,R19K,V155I,Y12C" "0,0,0,0,0,0,0,0,0,0" 115811 7609 dbsnp4034 NP_689655.3 "D167E,D216N,D278N,G369R,I107T,I317T,L145F,Q176E,S142N,T157M" "0,0,0,0,0,0,0,0,0,0" 144715 7970 dbsnp4040 NP_001159357.1 "R133W,R163H" "0,0" 10795 2356 dbsnp4063 NP_001076441.1 A13V 0 55259 3864 dbsnp4064 NP_001139693.1 "C300S,F84I,K213Q,L157S,S188I,S326T,T163M" "0,0,0,0,0,0,0" 100287284 9911 dbsnp4070 NP_006240.4 "G106E,G217R,G248R,H179R,K224E,P144Q,P186S,P188S,P228S,P81Q,R200H,S230P" "0,0,0,0,0,0,0,0,0,0,0,0" 5544 8251 dbsnp4076 NP_109592.1 "A11S,D1074E,G908C,H362R,I1188V,I228V,I517M,M537I,N238Y,N370K,P1106H,S251T,V443I,Y900H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5800 1376 dbsnp4085 NP_001181943.1 P23A 0 920 7429 dbsnp4091 NP_001103132.3 "A1093T,E1086D,E1111G,G494V,H2099Q,H3739Y,I2014T,L1910P,L3442V,M839I,P3012L,P972L,Q890H,R184K,R2754H,R3450C,R4129Q,R449C,R596Q,R600Q,R811H,S3565F,T1783S,V1148L,V1488M,V4003A,V650I,V666M,Y2291F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283450 67 dbsnp4093 NP_775869.3 "D294E,E103K,E638V,H536Y,R109Q,R327H,R334H,R908H,S812F,S875L" "0,0,0,0,0,0,0,0,0,0" 283455 2346 dbsnp4097 NP_690001.3 "A168V,A407T,A441T,A486T,S747C,V1218I,V288M,V533M" "0,0,0,0,0,0,0,0" 56899 1288 dbsnp4098 NP_001182449.1 R42G 0 100507055 13749 dbsnp4103 NP_001092001.1 "A16P,A173D,A436T,C517Y,D698N,E80Q,G374S,I155M,I642V,L300P,L660Q,R133Q,R228C,R336C,R697W,R850W,R96W,T218A,V152L,Y457C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10411 2476 dbsnp411 NP_689923.2 "H84Q,H87Q,I314V,I46T,L251P,M334I,P309L,P37T,R178Q,R215I,R54Q,R80Q,T63I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 219793 9629 dbsnp4110 NP_056134.2 "A102V,A680T,A962G,C809Y,E415K,G1093E,G3R,H872Y,N1367I,P758L,P843S,P983L,Q948H,R1023C,R10T,R1254H,R1363Q,R180W,R485Q,R540Q,R814H,R837Q,S363T,S508P,T1128A,T503S,Y662C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23371 955 dbsnp4124 NP_002383.2 "I347N,V116I" "0,0" 4193 6718 dbsnp4135 NP_068580.2 A34T 0 50614 5166 dbsnp4136 NP_073208.1 "A30V,P216L,T217I" "0,0,0" 11066 11895 dbsnp4141 NP_054901.1 "I40V,T66M,Y119C" "0,0,0" 29095 13865 dbsnp4148 NP_001008395.1 "D209G,L88I" "0,0" 493861 8894 dbsnp4149;dbsnp4150 NP_998776.1;NP_002626.1 A61T 0 5250 9352 dbsnp4152 NP_003556.1 "A393V,A705V,A711V,D343N,G499D,G808S,P574R,P592A,P634L,R514Q,R603W,R680W,T242I,T452S,T850M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8408 1896 dbsnp4154 NP_057439.2 "A140T,D155E,E416D,L96I,M398T,N337S,P16Q,S298R" "0,0,0,0,0,0,0,0" 51202 7490 dbsnp4157 NP_536859.1 "D606H,D606N,L28P,L560S,P571R,S562P" "0,0,0,0,0,0" 5777 4860 dbsnp4159 NP_115740.5 "A161T,D231N,D383E,E205G,L327V,R347Q,T207S" "0,0,0,0,0,0,0" 85406 4063 dbsnp4160;dbsnp4161 NP_444505.1;NP_000993.1 "E306D,G49R,L178I,N200K" "0,0,0,0" 6175 10481 dbsnp4164 NP_958851.1 A12T 0 7004 7580 dbsnp4166 NP_004068.2 "N370D,P42L,R183Q,S463F" "0,0,0,0" 1431 7283 dbsnp4167 NP_079178.2 "A163T,A62T,G186V,G248R,G287R,R230C" "0,0,0,0,0,0" 79962 9885 dbsnp4169 NP_524147.2 M147V 0 4637 12791 dbsnp4172 NP_001129738.1 "G128R,R121C" "0,0" 9802 12817 dbsnp4173;dbsnp4174;dbsnp4175;dbsnp4176 NP_665707.1;NP_064696.1;NP_665734.1;NP_665735.1 "R68K,V136F" "0,0" 4257 13819 dbsnp4179;dbsnp4180 NP_001186558.1;NP_002466.1 "C89W,D123N,G159R,G159S" "0,0,0,0" 140465 12791 dbsnp4188 NP_001507.2 "G79R,L228V,M1I,T210M" "0,0,0,0" 2967 10694 dbsnp4189;dbsnp4190;dbsnp4191;dbsnp4192 NP_001771.1;NP_001244318.1;NP_001244319.1;NP_001244320.1 "I88M,M112T,S161L" "0,0,0" 967 12168 dbsnp42 NP_001077382.1 "A341S,I44V,N134Y,P229L,R106Q,R5S,S323P" "0,0,0,0,0,0,0" 54838 9347 dbsnp4200 XP_003118691.2 "D96N,N36H,R37G" "0,0,0" - 14424 dbsnp4203 NP_057396.1 "G414R,P405S,R228H,T383I,V212M" "0,0,0,0,0" 51729 4685 dbsnp4204 NP_776254.3 "D36N,G40S,Q182E,R19W,S28R,V33G" "0,0,0,0,0,0" 283385 12129 dbsnp4213 NP_997194.2 "A39S,S214I" "0,0" 92558 5517 dbsnp4215 NP_000915.1 "A448V,N172T,P9L,Q341H" "0,0,0,0" 5153 3454 dbsnp423 NP_001128713.1 W131R 0 1646 10233 dbsnp4231 NP_036372.1 "G203D,R102C,R102H,R184H,R213W,V205I" "0,0,0,0,0,0" 23409 10565 dbsnp4239 NP_710154.1 "D157Y,E253K,H246L,Q122H,Q143R,V186G,V227I" "0,0,0,0,0,0,0" 121457 9051 dbsnp4240;hgmd0613_1962 NP_065813.1 "A982T,C269F,C269G,E186K,H274Y,H875R,L953V,P836L,R617C,S569G,T1001P,V512I" "0,0,0,0,0,0,0,0,1,0,0,0" 57522 1714 dbsnp4243 NP_444513.1 "D71A,D71N,E92Q,S30L,V102I" "0,0,0,0,0" 117159 14536 dbsnp4246 NP_612642.2 "K191R,L252V,P242L,R118H" "0,0,0,0" 192111 11126 dbsnp4253 NP_700356.2 "A460V,D56H,E558K,H902R,I401V,L1050V,M378V,N107S,R203Q,R389M,S509L,V660M" "0,0,0,0,0,0,0,0,0,0,0,0" 121227 1660 dbsnp4255 NP_849148.2 "A500T,G632S,G80A,R900H,R900L,R900P,V341I,Y672C" "0,0,0,0,0,0,0,0" 121601 2178 dbsnp4256 NP_001138937.1 "A17V,A19T,E82K,N58S,T153K" "0,0,0,0,0" 360030 13214 dbsnp4257 NP_065833.1 "S43I,T191S" "0,0" 57542 6569 dbsnp425;dbsnp426 NP_006450.2;NP_001094096.1 "I291V,R38M" "0,0" 10613 9717 dbsnp4264 NP_006592.3 "K25R,S124F,V101D,V101G" "0,0,0,0" 10728 13723 dbsnp4268 NP_922939.1 D183E 0 64581 11977 dbsnp427 NP_073713.2 "A161T,A74G,A935D,A935G,D213N,D977N,E216K,K83E,L392P,M151V,P537L,P53S,Q539E,R154W,R188Q,R261Q,R261W,R298Q,R344H,R398L,R72W,T288I,V120E,V234M,V461M,V932L,Y455H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1488 2163 dbsnp4276 NP_001193620.1 R19G 0 5992 3666 dbsnp4279 NP_005167.2 "A120T,L18F,R89Q" "0,0,0" 517 13012 dbsnp4282 NP_001245214.1 "D178V,D266H,F64I,G251R,L160V,L29P,R120H,R137K,S247F,T277I,T289I" "0,0,0,0,0,0,0,0,0,0,0" 121129 10547 dbsnp4290 NP_060527.2 "D278V,G268R,L260P,N274S" "0,0,0,0" 55117 3780 dbsnp430 NP_001123214.1 "D299N,H240P,R177W,R251Q" "0,0,0,0" 119395 9817 dbsnp4300 NP_443117.3 "A580V,G206A,N285K,T402I,V380A" "0,0,0,0,0" 114134 4610 dbsnp4305 NP_003315.2 S437T 0 7289 5674 dbsnp4311;dbsnp4312;dbsnp4313;dbsnp4314 NP_001181985.1;NP_001181983.1;NP_001181984.1;NP_001181982.1 "E169K,F16S,P5A,R180Q" "0,0,0,0" 1649 13140 dbsnp4317 NP_001074294.2 "D92N,Q20P,R66H" "0,0,0" 144404 9839 dbsnp4327;dbsnp4328 NP_001192109.1;NP_001192108.1 "R146W,S102L,V137M" "0,0,0" 121642 11675 dbsnp4333 NP_001243716.1 "E1054A,E968K,G905V,H480Y,M521V,M705V,P1020S,R674H,R9Q,S274G,V190M,V273A" "0,0,0,0,0,0,0,0,0,0,0,0" 54477 1201 dbsnp4334 NP_001243399.1 M693V 0 54477 1201 dbsnp4338;hgmd0613_1298 NP_004993.1 "A284T,A5P,I20V,I314M,I377M,M97V,P294L,R75H,R85W,Y241C" "0,0,0,0,0,0,0,0,0,0" 4704 9052 dbsnp4339;dbsnp4340;dbsnp4342 NP_001244027.1;NP_001244026.1;NP_001239428.1 "K200T,K27R,L132R,L16V,P154A,R78Q,R8C,T38I" "0,0,0,0,0,0,0,0" 83695 12169 dbsnp4343 NP_059105.2 "E185K,L187R,N67H,S156C" "0,0,0,0" 3226 9862 dbsnp435 NP_003045.2 "A183G,A224T,D123H,I43N,L260P,R17C,T68I" "0,0,0,0,0,0,0" 6571 6206 dbsnp4358 NP_073608.4 "C153S,F536L,G221E,M145I,R191G,R403S,S682T,V685D" "0,0,0,0,0,0,0,0" 64786 4160 dbsnp4359 NP_742001.1 "D60G,F5L,H7Q,P95S,T135A,V124L" "0,0,0,0,0,0" 160365 13155 dbsnp436 NP_001007274.1 "A151E,A197V,A48V,C249Y,M233T,Q26E,R103W,R155Q,R214Q,R283G,R283Q,S75G,V227M,V29L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51207 11078 dbsnp4362 NP_001130010.1 "A591G,A911V,C869F,D1071N,D494N,E783K,H915Y,I54S,I685V,K1018T,L763P,M967I,N852I,N929S,P297L,Q200R,Q658L,R1002W,R1078Q,R33Q,R588H,R970L,S242L,S691P,S788P,T1080M,T216P,T904M,Y649C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80724 1751 dbsnp4363 NP_006239.3 "K324N,Q314K,R112Q,R171Q,R357Q" "0,0,0,0,0" 653247 8251 dbsnp4364 NP_065134.1 "E126Q,L353V,R118H,R142C,R54Q,R88P,R88Q,S166P,T251S,Y403H" "0,0,0,0,0,0,0,0,0,0" 57122 2468 dbsnp4366 NP_057156.1 "S126L,V105I" "0,0" 51026 14124 dbsnp4369 NP_006808.1 "D42A,D42Y,E175D,K182R,L120F" "0,0,0,0,0" 10961 11683 dbsnp4372 NP_201585.1 "A219V,C154F,D80N,L228F,N167K,N234K,R258S,R39C,R39H,T162K,T162R,T265A,V240A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 93661 10894 dbsnp4373 NP_003290.1 "D629A,E606K,K534N,L747F,M293V,P321L,V6L" "0,0,0,0,0,0,0" 7184 3187 dbsnp4375 NP_064733.3 P289S 0 91 5901 dbsnp4377 NP_061109.1 "D120N,D290N,T162A,T326S" "0,0,0,0" 55884 8137 dbsnp4378 NP_861448.2 "A540E,A555V,G851D,K112R,L113V,L147F,M505I,R809H,S104T,T278I,V181M,V859I,Y20C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 160418 2532 dbsnp4379 NP_113661.2 I412M 0 28981 4312 dbsnp4380;dbsnp4381 NP_001137251.1;NP_054774.2 "C652R,D134G,H306L,K124N,K95N,L222V,N13S,N22T,N245T,Q444H,R384C,R543W,S11R,S406N,T567P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28981 4312 dbsnp4382 NP_060749.2 "I88F,L105M,L275V,L30F,T288I,T288S" "0,0,0,0,0,0" 55266 9996 dbsnp4384 NP_776272.1 "A142T,A227T,A278T" "0,0,0" 3228 11240 dbsnp4389 NP_001229326.1 "A350V,K238R,N226D,N306S,T225I,Y316F" "0,0,0,0,0,0" 5756 9503 dbsnp4391 NP_996797.1 R143S 0 25895 12414 dbsnp4397 NP_060627.2 "A227V,K150R,N329S,T193M,V237A" "0,0,0,0,0" 55188 6311 dbsnp4399 NP_758440.1 "L42F,M362T,Q225E,R135C,S472I,S478I,T270M,V66M" "0,0,0,0,0,0,0,0" 282809 7046 dbsnp4401 NP_003025.1 "C41Y,M302I,M94V,Q353H" "0,0,0,0" 6489 9522 dbsnp4404 NP_001107018.1 "D119N,E188Q,E473K,G345R,G684D,L212I,M675T,N191D,R261C,R54I" "0,0,0,0,0,0,0,0,0,0" 51474 3520 dbsnp4405 NP_060583.2 "A457T,H271R,M128L" "0,0,0" 55716 6842 dbsnp4406 NP_115979.3 "H19R,L186M,T149M" "0,0,0" 84678 1097 dbsnp4413 NP_061826.1 "K11N,T125I,T153R" "0,0,0" 3222 12497 dbsnp4414 NP_005802.1 "G210V,R216Q" "0,0" 10220 8442 dbsnp4418 NP_001760.1 "I201V,M215V,R140Q" "0,0,0" 928 12366 dbsnp442 NP_852660.1 "E309D,R261Q,R301G,S154L,T50I" "0,0,0,0,0" 83849 8140 dbsnp4420 NP_057073.4 "D409N,H127Q,M472V,P19L,P446H,R106C,R106P,R163Q,R163W,R416W" "0,0,0,0,0,0,0,0,0,0" 51380 5202 dbsnp4421 NP_071941.1 "E273K,I57V,L325I,S150I,S150N" "0,0,0,0,0" 64431 8670 dbsnp4425;hgmd0613_720 NP_001166167.1 "D293H,G201A,I211T,L287H,L287I,R275C,S2L,V251L,V273I" "0,0,0,0,0,0,0,0,0" 10102 9777 dbsnp4429 NP_059131.1 "N667Y,Y668H" "0,0" 53919 3783 dbsnp4432 NP_006134.1 "K398R,V116I,V168I" "0,0,0" 2842 8275 dbsnp4433 NP_001166.3 V68L 0 397 12444 dbsnp4437 NP_001642.1 "A193V,E247K,N228K,R154C,R235H,R256Q,V134L,V212M,Y243C" "0,0,0,0,0,0,0,0,0" 362 11231 dbsnp4440 NP_001243572.1 V19F 0 4048 5008 dbsnp4444 NP_065785.2 "N63S,T328S,T358M,V321M" "0,0,0,0" 57494 8785 dbsnp4447 NP_055173.1 "D53G,F46Y,G148D,S4Y" "0,0,0,0" 26253 12554 dbsnp4448 NP_003668.2 G155S 0 8562 13013 dbsnp445 NP_001128523.1 T733A 0 57700 3473 dbsnp4451 NP_113600.1 S113N 0 23710 14438 dbsnp4454 NP_001129741.1 "G138S,I87V,N145D,S102A" "0,0,0,0" 9802 12817 dbsnp4457 NP_055863.1 "A1236T,D1078E,E493A,E493G,G1342R,L1312P,P1309L,P411L,R120K,R1412H,R1652G,S487L,S634F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23067 468 dbsnp4458 NP_036416.1 "D879E,E1022D,L938V,P1015L,P856R,R63Q,R965C,S846P" "0,0,0,0,0,0,0,0" 23416 1776 dbsnp4459 NP_689649.1 "D105V,G92A,K240N,R211Q,S156F,S73P,V51I,W11R" "0,0,0,0,0,0,0,0" 144321 11847 dbsnp4461 NP_775866.2 "D198E,P507L,S1061T" "0,0,0" 283373 1798 dbsnp4467 NP_116175.1 "A290E,E135Q,G10S,K145E,S23N,Y105C" "0,0,0,0,0,0" 84872 7883 dbsnp4468 NP_075559.2 "G485R,G512R,I14T,I42V,I500T,R383Q,S75G,T523M,V22I,V390L,Y437S,Y482C" "0,0,0,0,0,0,0,0,0,0,0,0" 65244 5917 dbsnp447 NP_001230123.1 "I21T,M1I" "0,0" 22876 1623 dbsnp4472 NP_112589.1 "E109K,G253S,G52R,R220W,S44P" "0,0,0,0,0" 83461 11523 dbsnp4473;dbsnp4474 NP_116030.1;NP_001139788.1 "A42T,G41W,P26S,R236C,R86K" "0,0,0,0,0" 84727 11419 dbsnp4476 NP_001094387.1 "A206V,Q148R" "0,0" 144448 11953 dbsnp4477 NP_113662.1 "A265V,D75N,E195G,L79P,P39R,R183W,R67T,R76Q,R83H,S118R,S34L" "0,0,0,0,0,0,0,0,0,0,0" 83714 11257 dbsnp4478;dbsnp4481 NP_690869.1;NP_001128648.1 "A360S,A501T,G428R,G507D,P345L,P437L,P553A,R269W,R635S,S164F,V304G,V442M" "0,0,0,0,0,0,0,0,0,0,0,0" 121441 4403 dbsnp4482 NP_054886.2 "A8G,E198G,G26R,H41R,N29T,N40T,R183C,T167P" "0,0,0,0,0,0,0,0" 29080 12106 dbsnp4484;dbsnp4485;dbsnp4487 NP_001135816.1;NP_001135815.1;NP_001135817.1 "F168I,H217Q,I187M,I62S,I64T,L142F,M289I,T109S,V50I,W203R" "0,0,0,0,0,0,0,0,0,0" 1240 9146 dbsnp4488 NP_689854.2 "A1498T,A1569T,A461V,A810P,E98K,G1450E,G936C,I124V,K1251E,L1448F,N860S,P1594A,R1414I,R1504W,S587G,T1231A,T491S,T573M,T749I,T814A,T922A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196528 535 dbsnp4489 NP_003699.3 "A271V,M253V,T73S" "0,0,0" 8608 10429 dbsnp449 NP_036473.2 "E298D,E372K,G350E,K142N,K449R,K492Q,L459V,M388V,M585L,M592I,P13L,P13R,P561A,R248H,R343Q,R42L,R525H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23560 4753 dbsnp4491 NP_006827.1 "A633V,F417Y,N2202S,R2107H,S1162F,S332P,S333L,V2143I,V386M" "0,0,0,0,0,0,0,0,0" 10985 198 dbsnp4493 NP_683695.1 "D184G,L19V,R150K,R188C,R220Q,R231Q,R240C,R304W,R67Q,R72Q" "0,0,0,0,0,0,0,0,0,0" 121214 10590 dbsnp4494;dbsnp4495 NP_001137378.1;NP_006691.1 "A505V,A556V,D270N,E303A,G538R,K48R,N224S,N548T,R264S,S256R,S452G,V146I,V381L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10906 5386 dbsnp4496 NP_061126.2 "C61S,I137V" "0,0" 55508 10591 dbsnp4498 NP_859060.3 "A45V,A94V,N67S,P7L,R25C,V47I,V50I" "0,0,0,0,0,0,0" 144347 14170 dbsnp4499 NP_001191228.1 "A45V,A94V,N67S,P7L,R25C,V47I,V50I" "0,0,0,0,0,0,0" 100533183 14170 dbsnp4500 NP_001243303.1 "F32I,M29I,S88I,S89L" "0,0,0,0" 256021 14475 dbsnp4501 NP_078836.1 "A375S,A562S,G59D,H163Y,K128T,V263F" "0,0,0,0,0,0" 79611 4208 dbsnp4506 NP_689536.1 "E79D,K103N,K109R,Q215H,R44C,T163S,T68M,Y122H" "0,0,0,0,0,0,0,0" 121599 11954 dbsnp4508 NP_001138329.1 L5M 0 55200 3285 dbsnp4511 NP_001193921.1 M29R 0 9971 6906 dbsnp4513;dbsnp4514;dbsnp4515 NP_001129278.1;NP_005630.1;NP_001129277.1 V420I 0 6857 8113 dbsnp4516 NP_001207404.1 "A1219V,D311E,I631V,N258S,P101L,R1094H,R50Q" "0,0,0,0,0,0,0" 8499 1263 dbsnp4526 NP_775872.1 "D153V,D228Y,G39W,I241V,P225S,R435T" "0,0,0,0,0,0" 283464 7717 dbsnp4528;hgmd0613_1366 NP_005421.1 S88R 0 7471 9204 dbsnp4529 NP_009122.2 "P361T,R369L,R369Q,T249A,W379L" "0,0,0,0,0" 11197 9005 dbsnp4533 NP_006241.2 R119C 0 5554 8251 dbsnp4534 NP_005030.2 "A265P,D85V,K188N,K239R,L2P,P113S,P260S,P285L,P52S,P93L,Q213R,Q286P,R152Q,R88Q,S212P,S276A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5542 8251 dbsnp4535;hgmd0613_1673 NP_055069.1 "A23T,E409G,K90E,N364T,T92M,V157I" "0,0,0,0,0,0" 10329 7714 dbsnp4538 NP_055617.1 "A588P,K811R,S734T,T503A,V364I" "0,0,0,0,0" 9847 2110 dbsnp4539 NP_065904.1 "A258T,A94E,D382V,F444I,G174R,H520R,R295Q,R428H,S578R,T544M" "0,0,0,0,0,0,0,0,0,0" 57613 4886 dbsnp4540 NP_795365.2 "C238R,E151Q,F116L,F290Y,F36L,F36V,G253E,G253R,H212R,I274T,I274V,I91T,L235F,L59R,M132V,N76Y,N92S,P272S,Q210H,R268G,R298T,S170R,S254N,T306P,V131M,V80L,W35S,W66C,Y271C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259289 10420 dbsnp4541 NP_001171568.1 "L163Q,R25M" "0,0" 338809 13171 dbsnp4543 NP_569708.1 "L58V,N122K,P66S,S49G" "0,0,0,0" 170482 12678 dbsnp4545 NP_859062.1 "L91F,R169Q" "0,0" 160622 8694 dbsnp4546 NP_001164104.1 "D86N,R203G,T176S" "0,0,0" 115749 4887 dbsnp4549 NP_056216.2 "A513G,G471V,N675S,P353A,P455L,P761S,P846L,R166H,R228W,S565L,S618L,T161M" "0,0,0,0,0,0,0,0,0,0,0,0" 51564 2144 dbsnp4551 NP_001005183.1 "A158T,A297V,I219V,I253L,I80M,L112R,R224G,T107M,V23I" "0,0,0,0,0,0,0,0,0" 390326 10547 dbsnp4554 NP_005403.2 "A428T,L473F,R305Q,R442W,S50L,V274I" "0,0,0,0,0,0" 6472 6591 dbsnp4560 NP_653270.1 "A94V,D251H,P187L,R69K,S43N,V248G,V32M,V34I" "0,0,0,0,0,0,0,0" 144423 11566 dbsnp4561 NP_689850.2 "D211G,D211V,E174K,E76V,L19Q,L21F,M186K,P101L,P126H,P90S,R224L,V169M" "0,0,0,0,0,0,0,0,0,0,0,0" 196410 12037 dbsnp4563 NP_061108.2 "K258R,K378N,Q284R,R434H,V156M" "0,0,0,0,0" 55500 7561 dbsnp4564 NP_078899.1 L93V 0 79676 11101 dbsnp4565 NP_001029345.2 "A477T,D367V,G407D,G796E,K773N,L204F,P278L,R572H,T87A,T918M,V293I,V643F,Y782H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 160428 2478 dbsnp4566 NP_008913.2 "H61R,H89R,L119R,R58G,R64C,R64L" "0,0,0,0,0,0" 8092 10248 dbsnp4567 NP_036358.2 "I253T,K236E,K297R,P121L,P312L,Q92R,R365Q,R40C,R48Q,S224L,T244M" "0,0,0,0,0,0,0,0,0,0,0" 22953 6719 dbsnp4568 NP_001076006.1 "G466C,I412V,S163Y" "0,0,0" 79600 5248 dbsnp457 NP_057318.2 "A42S,A42V,E29D,E441K,F271S,F271Y,F84L,G467R,I614T,M133T,M238V,P96H,T542A,V313I,Y496F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51703 3713 dbsnp4572 NP_065108.1 "H67R,L217F,P120S,S184R" "0,0,0,0" 57103 11494 dbsnp4573 NP_001007034.1 "A75P,C39S,H61Q,I28N,M110I,Q8P,T119A" "0,0,0,0,0,0,0" 93978 12678 dbsnp4574 NP_077000.1 "R260H,T50A" "0,0" 140461 11143 dbsnp4579 NP_071901.2 "A122T,M448L,S81P" "0,0,0" 117177 7089 dbsnp4585 NP_620307.1 "F16L,G180R,R158Q" "0,0,0" - 12146 dbsnp4590 NP_659501.1 "F295L,K190N,N281S,R25Q,V53M,W284S" "0,0,0,0,0,0" 246329 9331 dbsnp4591 NP_001243304.1 M76V 0 256021 14475 dbsnp4592 NP_001243302.1 "G115R,Q46R" "0,0" 256021 14475 dbsnp4594 NP_443129.3 "G568E,P274L,P398R,R360C,R953C,R967C,S7N,V599M" "0,0,0,0,0,0,0,0" 114785 2096 dbsnp4595 NP_001008224.1 "I235F,P108S,R29H" "0,0,0" 338761 11165 dbsnp4600;dbsnp4601 NP_862830.1;NP_001137140.1 "H393Y,L12F,P216S,P326Q,S269L,V411L" "0,0,0,0,0,0" 347902 6263 dbsnp4602 NP_002693.3 "A12T,D138G" "0,0" 5463 10842 dbsnp4603 NP_003475.1 K103E 0 8091 14577 dbsnp4606 NP_982260.2 L31F 0 121549 13492 dbsnp4611 NP_001673.2 "A406S,I1045V,I1198V,P1181H,R699T" "0,0,0,0,0" 490 1258 dbsnp4612 NP_149073.1 R23C 0 84324 12750 dbsnp4613;hgmd0613_2092 NP_079085.2 "I68V,L529V,Q259R,R200Q,T223M" "0,0,0,0,0" 79867 4101 dbsnp4615;dbsnp4616 NP_001191227.1;NP_689650.1 "K141R,T250A,V58G" "0,0,0" 144348 3062 dbsnp4617 NP_065749.2 "A108V,A288T,A433V,C180Y,E228D,L193F,M188I,R29H,R386H,S184G" "0,0,0,0,0,0,0,0,0,0" 57458 3990 dbsnp4620 NP_064527.1 "A72V,D83G,D83V,R9C" "0,0,0,0" 56901 14787 dbsnp4621 NP_001078950.1 "C113Y,T118A" "0,0" 643246 13977 dbsnp4622 NP_001705.2 "D11N,R338L,R367Q,R868H,T362M,V829M" "0,0,0,0,0,0" 636 2213 dbsnp4623 NP_031360.1 "I122V,P17L,T71I" "0,0,0" 3824 13371 dbsnp4627 NP_001312.1 "C33Y,H19Q,T48A" "0,0,0" 1466 13090 dbsnp4635 NP_733783.1 E71K 0 22953 6719 dbsnp464 NP_998771.3 "A491D,F452S,G221D,K33E,K33R,L444V,S158P,S298N,S406C,T136M,V288F,V288I,V377M,W17G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 387700 6379 dbsnp4641 NP_005958.1 "A467P,A467T,L40V,R156H,V195I" "0,0,0,0,0" 4665 6216 dbsnp4642 NP_005721.3 "F117I,K201N" "0,0" 10106 11338 dbsnp4643 NP_079130.2 "C122Y,D352G,E203G,K278N,K278Q,Q28K,S35L" "0,0,0,0,0,0,0" 79912 6674 dbsnp4644 NP_899061.1 "D565N,T612I,Y72C" "0,0,0" 100289635 2356 dbsnp4647;dbsnp4648 NP_001070952.1;NP_109599.3 "D476E,V395M" "0,0" 81539 6892 dbsnp4649 NP_001185771.1 "D46G,R109H,S411N" "0,0,0" 10576 6058 dbsnp4655 NP_001154803.1 "F38C,R5Q,T20M" "0,0,0" 54434 1899 dbsnp4656 NP_954740.1 M97I 0 6843 14425 dbsnp4659 NP_064423.2 H445R 0 41 5506 dbsnp4660 NP_062537.2 "I102T,K163T,R184H" "0,0,0" 7574 5604 dbsnp4665;dbsnp4666 NP_065133.1;NP_001136433.1 "A336T,N4S,P294Q,T319A,V159M" "0,0,0,0,0" 57121 9173 dbsnp4667 NP_001138671.1 "A49V,S47P,S6P" "0,0,0" 387882 14900 dbsnp4668 NP_689992.1 "A152G,D35G,G172R,G46S,L229V,V184I" "0,0,0,0,0,0" 256710 12279 dbsnp4672 NP_065115.3 "A166V,E96K,R179H,V22G,V76F" "0,0,0,0,0" 387893 8731 dbsnp4673 NP_653195.2 "N83S,R38G,S70R" "0,0,0" 121355 13595 dbsnp4674 NP_783863.4 "R422Q,V550M" "0,0" 91010 1993 dbsnp4676 NP_001138344.1 "F87I,Q280E" "0,0" 387885 10695 dbsnp4677 NP_001161797.1 "P148L,V141M" "0,0" 54997 12658 dbsnp4679 NP_005801.3 "A70T,L55P,R78C,S31C" "0,0,0,0" 10219 13078 dbsnp4687 NP_001230321.1 "H89R,L93F" "0,0" 6540 4740 dbsnp4688 NP_689474.1 D17N 0 90488 14452 dbsnp469 NP_067673.2 G718S 0 8038 2566 dbsnp4690 NP_997227.1 R111W 0 283377 12809 dbsnp4691;dbsnp4692 NP_003419.3;NP_001120844.1 "A607G,D232E,H139R,K550R" "0,0,0,0" 7637 2356 dbsnp4693 NP_056448.1 "G68V,M67T,Q94R,R150Q,S253N" "0,0,0,0,0" 26127 11848 dbsnp4696 NP_001164261.1 "G385R,L463V,P383A,R544W,Y153C" "0,0,0,0,0" 84975 5740 dbsnp4699 NP_065892.1 "L16F,M757V,R689L,T56A,V708A" "0,0,0,0,0" 114882 2667 dbsnp4703 NP_597733.2 "A433S,V84I" "0,0" 171017 5461 dbsnp4708;dbsnp4709 NP_110402.2;NP_116031.1 "A10S,A10T,P33L,R179Q,V47L" "0,0,0,0,0" 81029 8967 dbsnp4711 NP_114160.1 "R102H,R20H,R265W" "0,0,0" 83892 10176 dbsnp4712 NP_001180386.1 "P550L,P552L,R396H,T264M" "0,0,0,0" 25900 5538 dbsnp4715 NP_477521.1 "R70S,T59A" "0,0" 118430 14753 dbsnp4716 NP_037513.1 "E31V,G1019E,N243T,Q228R,R707W,T644S" "0,0,0,0,0,0" 29953 2011 dbsnp4717 NP_006174.1 "F37L,L64I,M101I" "0,0,0" 4922 13542 dbsnp4719;dbsnp4720 NP_004528.1;NP_631946.1 Q14E 0 4673 8779 dbsnp4721 NP_005584.2 "E27G,N171I,P114T,T242A" "0,0,0,0" 4617 11799 dbsnp4723 NP_009128.1 "G320A,Q123H,R84H,V299I,Y298C,Y298S" "0,0,0,0,0,0" 11211 5262 dbsnp4724 NP_848634.1 "D112G,H131P,T41M" "0,0,0" 338811 14097 dbsnp4725;hgmd0613_2266 NP_612434.1 "A119V,A29V,K86R" "0,0,0" 113246 14315 dbsnp4726 NP_620710.2 Q112H 0 6602 6117 dbsnp4730 NP_003716.2 "A6V,I249V,L146V,P277L,R19G" "0,0,0,0,0" 8630 10429 dbsnp4731 NP_542193.3 "E178Q,R124H,V88M,Y112D" "0,0,0,0" 140707 11896 dbsnp4732 NP_078943.1 "F128Y,N19S,R72C,T38A,V82A" "0,0,0,0,0" 79720 11196 dbsnp4736 NP_065107.1 "I361T,K104R,S256P" "0,0,0" 57102 5811 dbsnp4738 NP_004066.1 "R256Q,S158R,T180A" "0,0,0" 1407 4983 dbsnp4740 NP_001137254.1 "S19R,T79I" "0,0" 51303 12948 dbsnp4742 NP_071758.1 "M364V,R10L,T156M" "0,0,0" 64211 8472 dbsnp4744 NP_005118.2 "N44K,Q32K" "0,0" 9976 13937 dbsnp4751 NP_009109.3 "G24D,M3V,N130K" "0,0,0" 11171 9666 dbsnp4752 NP_061156.1 C407Y 0 55907 7884 dbsnp4754 NP_001177983.1 "A114V,R52S" "0,0" 647589 9006 dbsnp4755 NP_057617.2 "K143R,K16E,N165D,R6C,T161I,V125A,V128I,V141I,V141L" "0,0,0,0,0,0,0,0,0" 4815 13215 dbsnp4756 NP_003353.1 P22L 0 7374 10574 dbsnp4758 NP_009155.1 "A181P,L118V,P171T,P95T,V115M" "0,0,0,0,0" 11247 10696 dbsnp4760 NP_057322.2 "D323N,S33N" "0,0" 51434 5151 dbsnp4762 NP_061133.1 "A142T,R114H,R114L,R145M" "0,0,0,0" 5827 13083 dbsnp4763 NP_036438.2 "C223Y,G83R,Q96R" "0,0,0" 23017 10512 dbsnp4766 NP_055140.1 N144S 0 23603 6859 dbsnp4767 NP_963844.2 "F191I,G233C,I195T,L174P,V230M" "0,0,0,0,0" 376132 11330 dbsnp4768 NP_061967.3 N151S 0 11163 11088 dbsnp4770 NP_004809.2 "K342R,S57R" "0,0" 9416 3090 dbsnp4771 NP_057038.2 A127T 0 51071 10449 dbsnp4772 NP_004364.2 "M24V,M54V" "0,0" 1337 14547 dbsnp4773;dbsnp4774;dbsnp4775;dbsnp4776 NP_001157567.1;NP_001157566.1;NP_057403.1;NP_001157565.1 "A169D,R123H" "0,0" 50813 11377 dbsnp4777 NP_065100.2 "E121K,E14V,H148R" "0,0,0" 57097 9952 dbsnp4779 NP_005710.1 "N122I,R166K" "0,0" - 13400 dbsnp4781 NP_001020403.1 A40D 0 574016 14633 dbsnp4782 NP_001478.2 "D68N,S22I" "0,0" 2647 13866 dbsnp4783 NP_631874.1 "D567E,K27R,L612H,N569S,P550L" "0,0,0,0,0" 3747 3540 dbsnp4785 NP_001014358.1 "P86T,S8L,V126M,V29I" "0,0,0,0" 386653 13645 dbsnp4786;dbsnp4787;dbsnp4788 NP_710161.1;NP_001171420.1;NP_001171419.1 Q20R 0 50511 12207 dbsnp4789 NP_036538.3 "E221K,I273T,K412Q,K727R,L68V,S577C,T172I" "0,0,0,0,0,0,0" 11108 3209 dbsnp4791 NP_705898.1 I146V 0 144402 5229 dbsnp4801 NP_066289.2 G643S 0 7316 4221 dbsnp4802 NP_112482.1 Q21E 0 9478 9200 dbsnp4804 NP_004494.1 "R67W,S204F" "0,0" 3223 12239 dbsnp4805 NP_001121057.1 "A29V,R120H" "0,0" 51147 11933 dbsnp4811 NP_055070.1 D180N 0 10330 13329 dbsnp4814 NP_057483.1 P72L 0 51499 14847 dbsnp4815 NP_787091.1 P109H 0 283416 14229 dbsnp4816 NP_659495.1 "E10G,L153V,R191G" "0,0,0" 196383 12722 dbsnp4830 NP_115524.3 "A128T,D140N" "0,0" 84102 5518 dbsnp4831 NP_003760.1 Y35F 0 8683 11950 dbsnp4832 NP_057002.2 "A38S,H6Q" "0,0" 51367 13667 dbsnp4834 NP_001177655.1 "R151W,T23S" "0,0" 85004 12985 dbsnp4836 NP_004407.2 T553M 0 1840 4916 dbsnp4837 NP_002665.2 "F73L,I30V" "0,0" 5367 13624 dbsnp4841 NP_060872.1 Q82R 0 55801 13531 dbsnp4842;dbsnp4845 NP_998823.1;NP_002250.1 "H231R,N3H" "0,0" 3821 11767 dbsnp4846;dbsnp4847 NP_006666.1;NP_001161792.1 A239S 0 10867 12150 dbsnp4848 NP_002889.1 "A116S,A264D,M146I,P357L,Y262H" "0,0,0,0,0" 5939 7832 dbsnp4849 NP_005972.1 A12T 0 6302 12751 dbsnp4850 NP_778224.1 E53Q 0 121504 14608 dbsnp4851 NP_001074002.1 "G250S,K165N" "0,0" 84747 11897 dbsnp4855;dbsnp4856 NP_001092143.1;NP_068753.2 R183Q 0 60673 12573 dbsnp4857 NP_001012300.1 R3H 0 10445 7115 dbsnp486 NP_690875.1 "D459E,R426C" "0,0" 196743 6457 dbsnp4861;dbsnp4863 NP_710152.1;NP_001230944.1 I189V 0 196500 11241 dbsnp4864 NP_076962.2 C255S 0 79023 10249 dbsnp4865;dbsnp4866 NP_054769.1;NP_751917.1 P138L 0 28977 14053 dbsnp487 NP_001137235.1 P310A 0 93426 9626 dbsnp4871 NP_620584.2 N240S 0 121665 8919 dbsnp4872 NP_665904.1 T43S 0 5204 13839 dbsnp4875 NP_001230542.1 Q85R 0 55885 13596 dbsnp4876 NP_848597.1 E233Q 0 196403 9742 dbsnp4877 NP_071910.3 G585A 0 64375 5341 dbsnp4878 NP_001138303.1 I79V 0 11331 10895 dbsnp4879 NP_001004304.1 R65C 0 283337 13125 dbsnp4880 NP_116093.1 "D160G,T150A" "0,0" 84790 7568 dbsnp4881 NP_001177908.1 T53A 0 10138 12879 dbsnp4882;dbsnp4883 NP_690599.1;NP_001166938.1 G115W 0 121340 7938 dbsnp4884 NP_001103089.1 V78I 0 613227 14700 dbsnp4885 NP_001243465.1 S3C 0 56341 8709 dbsnp4886 NP_055545.1 V142I 0 9761 11053 dbsnp4887 NP_001122383.1 P226H 0 5094 9283 dbsnp4891 NP_001188326.1 R82Q 0 1910 6103 dbsnp4899 NP_001159419.1 D49N 0 3356 7176 dbsnp4910 NP_078981.1 "G200R,H196P,N98S,Q56K,R165P" "0,0,0,0,0" 79758 11468 dbsnp4915 NP_001191354.1 "A1081E,A1215T,A1490T,A1573V,A340V,A830V,C983S,D1558H,E853K,F1124L,F726S,I82V,M708V,N1333S,N3D,N87D,P1025S,Q1134R,Q1456R,Q710R,R1413S,R1463H,R1534Q,R499H,R668C,R668H,R717Q,R840Q,R874H,R90C,S477L,S765C,T1425A,T798A,T865M,T897S,V1044I,V1051L,V1394M,V599I,Y696C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100533467 696 dbsnp4919;dbsnp4920 NP_115492.1;NP_001014402.1 "A300S,D400N,I142M,I78M,M228V,V272I" "0,0,0,0,0,0" 84056 6827 dbsnp4924 NP_115565.3 "A1153T,A1153V,A212T,A513V,A695T,A915T,D47A,G1188V,G444R,H1173Q,I1067M,L1152P,M317L,M317V,R1186C,R705C,S1144G,S450L,T1123S,T742S,V1083L,V1091I,V503G,V954I,V964M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23250 1445 dbsnp4926 NP_001130043.1 "K89N,S282P,T137A" "0,0,0" 646799 10379 dbsnp492;dbsnp493 NP_060096.3;NP_001002762.2 "A214V,A91V,D209N,E338K,G218S,N117S,P97L,R226H,R258P,V133I" "0,0,0,0,0,0,0,0,0,0" 54788 8409 dbsnp4932 NP_001245335.1 "A286T,E239A,G16C,G346A,G39D,I441T,K440T,M226T,N152S,N474Y" "0,0,0,0,0,0,0,0,0,0" 730249 6994 dbsnp4937 NP_001230405.1 N15K 0 90627 795 dbsnp4938 NP_001028774.2 "A517S,D537G,D574G,P202L,P965H,P996L,Q952P,S250I,S412Y,T894I,T957M,V13I" "0,0,0,0,0,0,0,0,0,0,0,0" 23281 1018 dbsnp4947 NP_060680.2 "A113T,E311D,I312T,K140E,N52K,P121S,P152T,P192L,R199W,R268H,R370W,R42P,T242M,T332A,V149I,V150I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55739 8802 dbsnp4949 NP_001002264.1 "A151T,A206T,G317S,H185N,N399K,P338S,R109W,R82G,T64A" "0,0,0,0,0,0,0,0,0" 94240 8386 dbsnp495 NP_001119521.1 "G84R,L154P,P104R" "0,0,0" 100144748 13398 dbsnp4950 NP_004084.1 Y76H 0 1948 9751 dbsnp4952;dbsnp4953 NP_005283.1;NP_001091670.1 "A117V,L187M,L277I,M246T,M301I,R296Q,R316L,R316Q,V243I" "0,0,0,0,0,0,0,0,0" 2841 10119 dbsnp4972 NP_001159743.1 "A106T,A385V,A644D,E1025K,E500K,G1027S,G514V,G580S,G594S,H142Q,I765V,K1192R,L1072P,N766S,P154R,P480L,R1061C,R1117H,R240K,R268Q,R363H,R645W,R813C,R89P,S473N,S770G,S844N,V239L,V656A,V826I,V904I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221178 1211 dbsnp4974 NP_001139669.1 "A1054V,A1822P,A3265T,A3445V,A6887S,A6887V,C4576R,C6987S,C82S,D1987N,D2524E,D2744Y,D2957N,D3558Y,D3893G,E1814Q,E2111Q,E2315Q,E3404K,E3522A,E3784Q,E4310Q,E4321K,E4394K,E4808K,E5892K,F1941I,F5283V,F5916L,G1135D,G2410R,G4391R,G4683V,G4893S,G5011A,G592S,G6660R,H1481N,H3914P,H6156R,H726P,I1676M,I2070T,I4459T,I5596V,I5946L,I787K,I96V,K1711E,K2807E,K3281N,K4030Q,K4388Q,K5411N,K5542T,K6544E,K6563N,L1005P,L3517I,L3536M,L4186V,L4188W,L4976P,L5698P,L594F,M2431V,M2904T,M3495I,M4630K,M4723V,M5395V,N1704H,N5750S,P1181L,P1304Q,P2092S,P2751L,P3237L,P3438A,P4517L,P4659S,P5332L,P567L,P6479A,P773L,Q1887P,Q3447P,Q4292E,Q4979L,Q5268H,R1070S,R2006H,R2006S,R2048S,R2847Q,R2878W,R4467S,R4505G,R5642Q,R5644T,R5674K,R5759T,R5838Q,R5997T,R6075C,R6245W,R6704C,R815L,S2108F,S2924N,S3331F,S4855R,S4943P,S5127L,S5671T,S6452T,S6687L,S7064C,T1035M,T1890I,T2812P,T3015I,T3812P,T4543S,T5445M,T6093N,T6112M,T6855K,T6886S,V2684I,V3805I,V5350I,V5634I,V5816I,V5913A,V6796A,V6796L,V7078I,Y1067H,Y553F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 643677 7 dbsnp4980 NP_057016.1 "H28P,L31F,L43W,Q56H" "0,0,0,0" 51371 14072 dbsnp4984 NP_006635.2 "D528E,E130K,E130Q,G451V,I117V,I347M,N61H,P558S,R781H,T35S,Y252H,Y641C" "0,0,0,0,0,0,0,0,0,0,0,0" 10808 2849 dbsnp4987 NP_000811.1 "A228V,A404V,A602T,C444W,E612K,G500R,I333V,L564I,N390D,P672A,P672T,R246H,R299W,R414P,R414Q,S204L,S489N,S580L,V252M,V347M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2621 3869 dbsnp4998 NP_060163.2 "A340V,I82V,N3D,N87D,R90C,S477L" "0,0,0,0,0,0" 54841 696 dbsnp4999 NP_002262.3 "E743D,E911K,I485V,P205L,P237L,S157L,T980I" "0,0,0,0,0,0,0" 3843 1676 dbsnp5003 NP_056667.2 "A291T,D133N,E83G,I199L,L328F,L365Q,N110S,R358C" "0,0,0,0,0,0,0,0" 4008 660 dbsnp5007 NP_113619.2 "A482V,A721V,D282E,H692R,M119T,P739S,Q161R,S216L,T40R,T474M,T759A,V792I,V826A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 83548 3041 dbsnp5010 NP_055873.1 "A1201V,A417V,C301G,D1398H,D462N,E1300K,F689V,G1554W,G408R,I1439L,I159T,I443L,I805V,L600S,M1744I,M383I,M383T,M767V,P311L,P625L,R129W,R165H,R211C,R420C,R552H,R660G,R668Q,R898K,S369T,S537R,S64C,T523P,T57I,V1564L,V1564M,V928A,Y1440F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23078 483 dbsnp5016;hgmd0613_1808 NP_057613.4 "A1069T,A171S,A922T,R778W,V760M" "0,0,0,0,0" 51761 1458 dbsnp5017 NP_001185839.1 "A416T,K20R,K327R,Q71E,R479Q,T112I,V308I" "0,0,0,0,0,0,0" 100526761 6622 dbsnp5018 NP_060296.2 "K250R,R402Q,T35I,V231I" "0,0,0,0" 54937 6622 dbsnp5037 NP_001863.2 "D177G,I420N,V160I,V336L" "0,0,0,0" 1361 8084 dbsnp5044 NP_149102.3 "D246V,E672K,N544S,R506S,R96Q,T688A" "0,0,0,0,0,0" 10443 3594 dbsnp506 NP_001091645.1 S9G 0 953 6262 dbsnp5066 NP_073754.2 "A151V,G404A,I534V,M1T,N73K,P763L,R268S,R670Q,S39R" "0,0,0,0,0,0,0,0,0" 64881 2336 dbsnp5069 NP_001007538.1 "C243S,C60R,G134S,G155D,G298E,G38V,M301V,R277K,T69M,V130G,V238A,V305M" "0,0,0,0,0,0,0,0,0,0,0,0" 387911 10065 dbsnp5075 NP_001121698.1 G84E 0 22894 2292 dbsnp5077 NP_005349.3 "A376T,A602T,A933T,D19V,D821Y,E1163G,E498G,E925D,G1299S,G269R,I109V,I265T,K2E,M1113T,M1293I,M390I,N1271D,N815H,P1213Q,P1234R,P464L,P505S,Q1138K,R1045C,R1045H,R1045L,R1051W,R1211H,R1222C,R271P,R312C,R557C,S1182A,S637F,T622I,V108I,V1232M,V609I,V734I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4008 660 dbsnp5082 NP_001001715.2 "A118G,E124G,G69S,T68I" "0,0,0,0" 10160 14263 dbsnp5083 NP_808882.1 "L119M,M18T,P245R" "0,0,0" 337867 9819 dbsnp5084 NP_001137544.1 L110F 0 337867 9819 dbsnp5086;dbsnp5087;dbsnp5088;dbsnp5089 NP_001135766.1;NP_001135767.1;NP_001135768.1;NP_055902.1 "A472S,D121Y,D391G,G437C,K377M,R459Q,V599L,V647M" "0,0,0,0,0,0,0,0" 23111 4415 dbsnp5100 NP_001034739.1 R378H 0 9205 4387 dbsnp5111 NP_055885.3 "A617P,D680E,D744E,E138G,E1429D,E738D,E746D,G455S,I1137V,L1412F,N634K,P1512T,Q1383H,R1181H,R1196Q,R1333H,R330G,R350H,R350L,R369H,S1056F,S1222N,S216N,T1113A,V1107M,V1165A,V142I,V1499M,Y280H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23091 671 dbsnp5117 NP_001185837.1 G217R 0 728591 12107 dbsnp5125 NP_861450.1 "A170P,G184V,I167T,I330T,L260F,N143D,R244Q,R369Q,R377H,S13N,T402A,V109I,Y98C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 283537 7354 dbsnp5128 NP_004791.1 "G34C,L8F,P253T,P512H" "0,0,0,0" 9375 4449 dbsnp513 NP_079151.2 P25L 0 79933 2197 dbsnp5132 NP_055872.4 "A1609V,A1784G,A1919S,A2726T,A301S,C3133F,D2323G,D465V,E131Q,G3763S,G975E,H4411Q,I1756V,I3115V,I550M,I576V,K1621N,K1753R,L2788S,L2827P,N2076S,N2227S,N2631S,N3413S,N3583S,P2229A,Q685H,R2369Q,R2669Q,R2716Q,R2750W,R2841H,R2882H,R405C,R4156Q,S1885R,S2722P,S592F,T4350M,T770A,V1323I,V1689I,V176M,V2626M,V2645I,V4607G,Y2020C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23077 44 dbsnp5137 NP_055847.1 I857V 0 23047 902 dbsnp5139 NP_001229800.1 "H173P,P71A,P80L,R145W,R2S,R74H" "0,0,0,0,0,0" 122060 5271 dbsnp5142 NP_001159489.1 "D335E,K386R,L67S,T254A,T348M,T381I,V187I,V58I" "0,0,0,0,0,0,0,0" 221150 8339 dbsnp5144 NP_000529.1 "G5S,Q181H,R263K" "0,0,0" 5994 11440 dbsnp5149 NP_005923.2 "A642T,D207N,E602K,G682D,H248R,L197P,M504V,M557T,N224S,P355L,R366C,R62C,R662C,R662H,R94C,R94H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4285 3940 dbsnp5153 NP_001157683.1 "A486S,G74R,L162V,M447I,Q293H,R426W,R655C,R736G,S390R" "0,0,0,0,0,0,0,0,0" 23143 3500 dbsnp5160 NP_001106203.2 "A150T,A365G,A415V,A591S,E358D,G1000R,H356R,K179E,N391K,N391S,N485K,R196Q,R407W,R432H,R585W,S220C,S564F,T7P,V292M,V375M,V623I,V971F,V971I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23263 1641 dbsnp5161 NP_056382.1 "A737S,E609K,F28L,L610Q,P503R,P919A,Q405R,Q797P,S64T,T622K,V620I" "0,0,0,0,0,0,0,0,0,0,0" 26050 2293 dbsnp5162 NP_112173.1 "D387A,N37S,P68H,S301N,V19I" "0,0,0,0,0" 81602 6414 dbsnp5167 NP_775876.1 "G207R,G47S,M161I,R30H,R81K" "0,0,0,0,0" 283518 11441 dbsnp5179 NP_659456.3 "A133T,A190T,A491S,A89E,D217H,E119K,Q548R,R368W,R40Q,R455W,S222G,S545A,T404M,T543I,V318M,Y467C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220108 5387 dbsnp5183 NP_001191335.1 L50F 0 241 12574 dbsnp5200 NP_003036.1 "A129G,G158S,I508V,S482L,T620N" "0,0,0,0,0" 6541 4095 dbsnp5203 NP_001123361.1 "D269N,N170S,R275Q,R326Q,R398C" "0,0,0,0,0" 1638 5812 dbsnp5205 NP_054885.1 "D253E,E12Q,E61K,I135V,L82F" "0,0,0,0,0" 29079 11495 dbsnp5207 NP_660329.1 "A168T,A187V,A210V,I47M,M270V,R188Q,R67C,R67L,T255M,T95R,V111I,V81I" "0,0,0,0,0,0,0,0,0,0,0,0" 161003 11082 dbsnp5215 NP_689537.1 "A119T,A96T,I57T,L97V,S112R,V81I" "0,0,0,0,0,0" 121793 13907 dbsnp5216 NP_443182.1 "E274D,G262S,R356C,T194I,T194R,V223I" "0,0,0,0,0,0" 115825 8397 dbsnp5217;dbsnp5218;dbsnp5219;dbsnp5220 NP_003444.1;NP_001177894.1;NP_001177893.1;NP_932072.1 "D152H,I635T,M953V,P989S" "0,0,0,0" 7750 1021 dbsnp5222 NP_001245299.1 K655E 0 81624 1435 dbsnp5228 NP_065917.1 "E127K,E61D,G160S,G30S,G31C,G34R,G34W,I555M,N527K,P176S,R665Q,S81A" "0,0,0,0,0,0,0,0,0,0,0,0" 57626 3569 dbsnp5229 NP_872420.1 "A230G,G130E,G149S,G74S,K23R,L248P,P116L,P233L,P323H,P323R,T121M,T140I,T24M,V183I,V55A,V55I,V96L,Y138H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348013 10250 dbsnp5232 NP_001104515.1 "A364D,A428V,E20K,E252G,G27R,L141Q,N344D,Q37H,R321Q" "0,0,0,0,0,0,0,0,0" 8900 7306 dbsnp5235 NP_852480.1 "C125R,F154L,P87H,S272T" "0,0,0,0" 11340 11355 dbsnp5237 NP_001035519.1 "D1143E,E733D,R344L,R810G,R945Q,T226N,T986S" "0,0,0,0,0,0,0" 27253 1530 dbsnp5239 NP_065110.1 "A292D,A292G,C220Y,E39Q,F50V,H242Q,L278I,M201V,N103S,R145W,R315K,S154N,S236L,S236W,T90M,Y263C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57105 9778 dbsnp524 NP_115906.3 "A127T,G190D,K13R,N170S,Q108P" "0,0,0,0,0" 84569 13103 dbsnp5244 NP_112241.2 "A114T,A217T,A548T,A621E,C339Y,E345K,G451A,I195V,I448T,K231E,K444M,K615E,L589P,M251I,M460V,P191T,Q529H,Q535H,R166H,R206H,R311Q,R424Q,R430H,R469Q,R475C,R487C,S137P,S446G,T319I,T497I,V338E,V484M,Y297C,Y382C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5042 4486 dbsnp5245 NP_006251.1 "A224G,D357E,D69G,E354Q,R158H,T288A" "0,0,0,0,0,0" 5611 6592 dbsnp5246 NP_001026889.1 "M213R,P244L" "0,0" 79758 11468 dbsnp5248 NP_065189.1 E24D 0 57213 13062 dbsnp525 NP_055476.3 "A391V,A402V,E385K,P203L,R189G,R390G,R400C,R54G,S266C,V141G" "0,0,0,0,0,0,0,0,0,0" 9679 8112 dbsnp5255 NP_115954.1 "P180L,S79A" "0,0" 84650 12838 dbsnp5256 NP_001498.1 R378G 0 2862 8346 dbsnp5259 NP_001124384.1 "L209F,N219S,P356T,Q268E,T112M" "0,0,0,0,0" 10910 9305 dbsnp526 NP_001809.3 "A243G,A243T,A243V,C154W,D156A,D156V,L182V,R76T,S73N" "0,0,0,0,0,0,0,0,0" 1109 10233 dbsnp5264 NP_001035533.1 "R21G,S330Y" "0,0" 51131 10120 dbsnp5266 NP_116238.2 "I110V,R23H,T132M,Y206C" "0,0,0,0" 84935 10792 dbsnp5267 NP_003282.2 "A572D,A619T,K1099R,P667L,S25A,S801N,V512I" "0,0,0,0,0,0,0" 7174 1285 dbsnp5268 NP_078822.3 "D479N,E367D,F559L,I69V,K125Q,N234S,N637T,P387S,S401G,T587S" "0,0,0,0,0,0,0,0,0,0" 79596 3823 dbsnp5270 NP_001244924.1 "P36A,S48L,S99F,V62I" "0,0,0,0" 729420 14384 dbsnp5273 NP_982354.1 "D5E,D616E,E106G,E1234K,H1036N,I367T,P1099L,P1119L,S1017R,S1209R,S186T,S569N,V665I,V885L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5101 1072 dbsnp5275 NP_000696.1 "A166V,A248V,D205E,E95K,K291M,R19H,V100I,V45M" "0,0,0,0,0,0,0,0" 496 11083 dbsnp5277 NP_443099.1 "A1091E,A748T,C1144S,D1659E,H769Q,H769Y,I523V,I646T,K35E,L1522F,P231L,P231R,R372H,V70L,V756M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259232 601 dbsnp5278 NP_001007539.1 "G268S,G60D,R174Q,R179C,V116M,V216M" "0,0,0,0,0,0" 387914 10989 dbsnp5281 NP_001139542.1 N58S 0 81550 3667 dbsnp5282 NP_694983.2 "R295C,R332H" "0,0" 253832 9259 dbsnp5283 NP_001014305.1 "A59T,M126V,R36K" "0,0,0" 55208 11725 dbsnp5284 NP_001256.3 "A149S,P35T,R209C" "0,0,0" 1045 10583 dbsnp5285 NP_061029.2 "A9V,E173D,G134R,G203C,K172E,P197R,P295L" "0,0,0,0,0,0,0" 55425 9912 dbsnp5287 NP_001073865.1 "K384N,Q73R,R77Q,V393A" "0,0,0,0" 728215 7445 dbsnp5288 NP_078995.2 "A4D,H273Q,M194T,M219T,R126W,R209Q,R232H,S259L,T227M,T304K" "0,0,0,0,0,0,0,0,0,0" 79774 9997 dbsnp5291 NP_001155284.1 "G62R,K41N,L45F" "0,0,0" 267012 13857 dbsnp5292 NP_612141.1 "A189T,I184M,R132L,Y100H" "0,0,0,0" 53342 12921 dbsnp5293 NP_060481.3 "A186T,K115Q" "0,0" 55082 11423 dbsnp5295 NP_008915.1 "D110N,F66L,Y207C" "0,0,0" 9071 12367 dbsnp5298 NP_997323.1 "D62A,G39D,K34Q,P22S,R121W" "0,0,0,0,0" 400165 14394 dbsnp53 NP_001240766.1 "C12Y,K21N" "0,0" 9033 2244 dbsnp530 NP_001071153.1 "D343N,D600E,E440K,L327S,M442T,N181K,P364A,R484C,S197P,T179M,T488N" "0,0,0,0,0,0,0,0,0,0,0" 653268 4207 dbsnp5300 NP_005279.1 "R247Q,S168A,V36L" "0,0,0" 2835 9375 dbsnp5301 NP_060753.1 "R139C,R139H" "0,0" 55270 13646 dbsnp5302 NP_076931.1 "N96S,Q58H,R37C,S102C" "0,0,0,0" 78988 14621 dbsnp5303 NP_945340.2 "P43A,R58Q" "0,0" 220107 12510 dbsnp5304 NP_001193488.1 H65R 0 51082 14385 dbsnp5307;dbsnp5308 NP_001072113.1;NP_003894.3 "A484V,M258T,Q198H,Q38R" "0,0,0,0" 8881 4917 dbsnp5309 NP_690867.3 "A139T,L489V,M301I,P251A,Y308C" "0,0,0,0,0" 89890 4235 dbsnp5311 NP_937860.1 M1T 0 3621 8111 dbsnp5312 NP_937862.1 Q9H 0 3621 8111 dbsnp5313 NP_001010875.1 "F280L,R227C,R50Q,Y262C" "0,0,0,0" 253512 10259 dbsnp5314;dbsnp5315 NP_112187.2;NP_001073138.1 "Q309H,S113I" "0,0" 81617 9891 dbsnp5316 NP_071401.3 "E944Q,I110L,N514S,N517S,P419S,R177P,R771C,S874N,V628F,V764L" "0,0,0,0,0,0,0,0,0,0" 64062 2081 dbsnp5317 NP_006013.1 P120S 0 8848 1809 dbsnp5320 NP_005977.2 "G139S,G264S" "0,0" 6656 8780 dbsnp5321 NP_116248.2 "I16V,R98H,V215M" "0,0,0" 84945 9973 dbsnp5322 NP_001035026.1 "E468G,K559R,L731S,T736A" "0,0,0,0" 26512 2679 dbsnp5325 NP_001245141.1 "A138S,N127S,P99L,P99Q,Y286D" "0,0,0,0,0" 55795 7535 dbsnp5326 NP_001014442.2 "P74S,P95L,T99P" "0,0,0" 542767 14453 dbsnp533 NP_660153.3 "F828V,H372Y,K519N,L835Q,P320L,P444T,P450S,R1029K,R755Q,S852G,T682I,T803I,V812M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 118491 1651 dbsnp5331 NP_001245142.1 M1R 0 55795 7535 dbsnp5332 NP_001035243.2 R36C 0 122060 5271 dbsnp5337 NP_001135836.1 "M293I,W60R" "0,0" 29880 10301 dbsnp5339 NP_612453.1 "P56S,T297M" "0,0" 115207 7146 dbsnp5340 NP_787050.6 "H352R,M641T,R639Q,T427A,T864S" "0,0,0,0,0" 255967 2680 dbsnp5343 NP_940686.2 K10R 0 386618 11728 dbsnp5347 NP_001182359.1 "D48V,L44I,P28R" "0,0,0" 9201 3335 dbsnp5348 NP_115514.2 "A220V,D360E,H269Y,M268R" "0,0,0,0" 84078 4235 dbsnp5349 NP_006228.3 "G181R,L46F,T95A" "0,0,0" 5457 8181 dbsnp5350 NP_543008.3 "L325F,Q311H,T205A" "0,0,0" 27199 9974 dbsnp5352 NP_996563.1 S197G 0 387496 11962 dbsnp5353 NP_009180.3 "R122H,S118L" "0,0" 11278 8548 dbsnp5361;hgmd0613_2242 NP_542937.2 "E302D,E506D,M521T" "0,0,0" 1602 4007 dbsnp5364 NP_987093.1 T75I 0 170622 14684 dbsnp5365 NP_438169.2 G238S 0 90634 12064 dbsnp5366 NP_659002.1 S62L 0 10150 9261 dbsnp5368 XP_001716719.1 "G17R,P30A" "0,0" - 14364 dbsnp5369 XP_003118937.1 "E33D,S102P" "0,0" 100506859 13938 dbsnp537 XP_003403580.1 "E79D,P72S,S194P,S70N,T193I" "0,0,0,0,0" - 12920 dbsnp5370 NP_620134.3 M42L 0 93081 12395 dbsnp5372 NP_149123.2 S135C 0 85416 4450 dbsnp5375 NP_001123877.1 "A191S,P204L" "0,0" 729240 12514 dbsnp5376 NP_940843.1 "A191S,P204L" "0,0" 122183 12514 dbsnp5377 NP_001123876.1 "A191S,P204L" "0,0" 729233 12514 dbsnp5378 NP_001035879.1 M437V 0 55269 4018 dbsnp5379 NP_001123879.1 "A191S,P204L" "0,0" 729250 12514 dbsnp5380 NP_001123878.1 "A191S,P204L" "0,0" 729246 12514 dbsnp5397 NP_001170859.1 Y193H 0 3958 11909 dbsnp5404 NP_001171082.1 "A7T,H141R,I49M,L50V,N68K,R179H" "0,0,0,0,0,0" - 12396 dbsnp5406 NP_001302.1 "A58V,C52F,C52S,E15K" "0,0,0,0" 1396 12793 dbsnp5407 NP_665877.1 "A134T,E32K,E32Q,G42R,I189V,M82T,N133H,Q132R,S47C,V195A,V99M" "0,0,0,0,0,0,0,0,0,0,0" 2954 12606 dbsnp5409 NP_872286.2 "S21F,V13F" "0,0" 51004 7243 dbsnp541 NP_001191332.1 D1654Y 0 288 60 dbsnp5411 NP_005006.3 "A104V,H463D,I129V,I292L,M377I,M61K,M61T,M66I,M66V,P416A,P489S,P56L,R418W,R436H,S348C,V151I,W31R,W31S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5018 6753 dbsnp5412 NP_653182.1 "A315V,A78T,D343G,I341V,L120R,P125S,Q284H,S102Y,V42A" "0,0,0,0,0,0,0,0,0" 112849 9560 dbsnp5413 NP_060805.3 "A430T,D200N,F847L,G630V,L118P,P647S,R635K,V809M" "0,0,0,0,0,0,0,0" 55778 2448 dbsnp5428 NP_001020029.1 "G2270D,P2132L,P2166A,P2172L,R2173P,S2161R" "0,0,0,0,0,0" 6710 271 dbsnp5429 NP_071940.4 "A788T,A919V,D525N,D577Y,D640N,D897N,G25R,G368A,G766S,H421Y,I128V,I301M,I839V,K321E,N259D,N518K,N585S,P398H,Q427R,Q536H,R289K,R425H,S625P,S689G,T684N,V177I,V623I,V768G,Y704H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64430 1501 dbsnp5432 NP_775733.3 "A1087T,A191T,A191V,A218V,A434V,A646T,A671V,A737T,D906E,D959N,E1041K,G1054R,G231V,G381R,G709S,G714D,G869R,H1062Q,H601R,I1249F,L1165V,M666R,M666T,N329H,P1060R,P386T,P682S,P910L,Q1224R,Q696H,R1024W,R1166Q,R174W,R318H,R417W,R478Q,R595W,R754C,R785C,R901G,S1233T,S33G,S401N,S657L,S669L,T1174M,V416I,V725M,V974M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89932 1209 dbsnp5433 NP_207646.2 "A1222G,A1669V,A1761P,A2130T,A876T,C285S,D712N,E1743K,E99Q,F1340V,G683E,H998Y,I304L,M2282V,M594T,N824K,P139A,P2198A,P2465L,P36S,P550T,P650L,Q1781E,R1514H,R2168H,R2275H,R793W,S129P,S2137R,V1005M,V1545A,V995M,W1642L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85446 219 dbsnp5435 NP_001007024.1 P79S 0 1734 10676 dbsnp5438 NP_056364.1 "D10E,G572D,H332Y,K414N,L1159F,L786V,M504V,P1068L,P1111L,P1114S,P1143L,P638R,P886A,P963L,Q1120E,R1008H,R154Q,R254C,R257C,R327Q,R423G,R426T,R560W,R577Q,R826G,R826W,R850C,R958H,R958L,R980W,S1113L,T139M,T475M,V255M,V548I,V994I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26030 1362 dbsnp5446 NP_001188331.1 "A17T,E36D,P38L" "0,0,0" 2581 4213 dbsnp5463 NP_114425.1 "A68S,S125L" "0,0" 83982 14243 dbsnp547 NP_078969.2 "E123K,K76N,M145I,N63S,R281L,R281Q,T288M,V60I" "0,0,0,0,0,0,0,0" 79746 10796 dbsnp5473 NP_001166173.1 "A288S,A288T,A484V,D472H,G442D,L511F,L70M,Q487R,Q494L,T503N,Y251C" "0,0,0,0,0,0,0,0,0,0,0" 145389 6285 dbsnp548 NP_689964.2 "A53D,E189Q,H429R,I219T,N289S,P176S,Q390K,R213C,R62C,T368A,T94M,V214I" "0,0,0,0,0,0,0,0,0,0,0,0" 222389 6330 dbsnp5482 NP_064580.2 "F129I,G181V,G233S,I79L,L232F,Q270E,Q270K,Q270R,V136I" "0,0,0,0,0,0,0,0,0" 56948 10417 dbsnp5487 NP_115879.2 V19L 0 84520 14646 dbsnp5493 NP_001121169.2 "E173D,G255R,Q254R,R231Q,R234Q,T60M,V161M" "0,0,0,0,0,0,0" 4287 9317 dbsnp550 NP_955629.2 "A200T,A339E,A54V,D45G,D461A,G541D,H666Q,N208K,N571I,P315T,P376T,P379A,R320L,R38W,R61G,S183C,V297I,V522G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 926 dbsnp5516 NP_003827.3 "D380H,E38K,G101R,H65R,L292F,P208L,R344Q,V145L" "0,0,0,0,0,0,0,0" 8788 8924 dbsnp5526 NP_036376.2 "A94T,C491Y,G18W,M384T,P16R,R181Q,R418C,R8P,S29F,S487N,V302I,V401G" "0,0,0,0,0,0,0,0,0,0,0,0" 23428 6059 dbsnp5533 NP_067011.1 "D423E,N61S" "0,0" 57862 6384 dbsnp5535 NP_004704.2 "E331K,E773K,E881K,G305S,M695V,M721V,N27S,Q788P,T1004A,Y235C" "0,0,0,0,0,0,0,0,0,0" 9147 1793 dbsnp5554 NP_777638.2 "A306V,A433P,D3N,D59G,E462D,F427L,F445L,I426V,K45E,L524F,M216I,N313S,P295S,P437S,P567S,Q351R,Q96E,R386G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 317761 5310 dbsnp5557 NP_115961.2 K140T 0 84659 13799 dbsnp5559 NP_001171668.1 R147C 0 283629 9953 dbsnp556 NP_000760.1 "A173V,D360N,E81K,K432I,L17H,M406V,Q279P,R125H,R150C,R186P,R329C,R73C,S336I,T130M,V113I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1557 6755 dbsnp5565 NP_001231118.1 "A214V,D1142G,D1360G,E378V,E419V,E997V,G1088D,G1208E,K680Q,L1293S,L1568P,L896P,M194T,P1109A,P473L,S1024N,S343C,T1069A,T135S,V108I,V1602I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9786 692 dbsnp5579 NP_001158287.1 "A363V,A795V,G1031R,I271M,I398R,I942V,L108V,L478H,M279T,N20S,Q961R,R217K,R540W,R578C,R600S,R602H,R604H,S385F,S427P,S438F,S605F,S605Y,V980G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22985 1080 dbsnp5585;dbsnp5586 NP_062813.2;NP_001158164.1 "D165G,D294G,E350Q,G337R,M349L,P36L,Q332R,R166S,R20W,R49Q" "0,0,0,0,0,0,0,0,0,0" 56413 9479 dbsnp5588 NP_115983.3 "A363V,D206G,G459V,P414S,P54S,Q523K,R358L" "0,0,0,0,0,0,0" 84684 5605 dbsnp5595 NP_055820.2 "A299V,D1237E,G668S,R1180H,R1223W,R1309Q,R265C,S622F,V1083M" "0,0,0,0,0,0,0,0,0" 283638 775 dbsnp5598;dbsnp5599;dbsnp5601;dbsnp5602 NP_001180291.1;NP_001180292.1;NP_001180289.1;NP_001180290.1 "C202S,D231N,K479E,M414T,Q518H,R195W,R31H,V182I,V251G" "0,0,0,0,0,0,0,0,0" 55218 4897 dbsnp5604 NP_001002860.2 "A822S,D826G,G832E,H82Q,K1001T,N1046S,P1040A,P638S,P730L,P813S,R1036L,R297Q,S1087A,S857F,T806R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55727 1624 dbsnp5618 NP_001018083.1 "G412V,M429T,V430M" "0,0,0" 5106 4693 dbsnp562 NP_001137446.1 "A64T,G101D,G430R,I38T" "0,0,0,0" 56624 3364 dbsnp5632 NP_006361.1 "D49E,E155V,L125I,L217F,M198V,R148S,R176H,R85W" "0,0,0,0,0,0,0,0" 10490 12298 dbsnp5635 NP_001136098.1 R269S 0 7253 3483 dbsnp5637 NP_056161.2 "A1323S,A1801T,A2450T,C1232Y,C1356G,C1542Y,C1871Y,D159H,G2077R,G395V,H488Y,I2029T,L1065F,L2217V,M942I,N1891S,N2K,P2150S,P2529R,P303T,R1241Q,R1358H,R226H,R258Q,R25P,R767H,R843H,R89Q,R997Q,R998H,S1040T,S1893I,S615F,T1283A,T1317M,T1976M,T2352I,V1422M,V1468M,V2052A,V649M,V963L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23503 232 dbsnp5641;hgmd0613_1971 NP_065972.3 "A1868P,A1868T,A996V,C1692Y,E1522Q,E1622D,E225K,G141S,G594S,G681R,H691R,I1430L,I1430T,I1671V,K1247R,K884R,L1482P,M1269L,M286T,N2023S,P1111A,Q1934E,R104H,R1613C,R1999H,R370W,S1837T,T1160A,T1968M,T664I,V1066D,V1135I,V1135L,V1152F,V1163L,V644M,V889L,Y1248H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51199 367 dbsnp5647 NP_001243359.1 V899L 0 85439 2497 dbsnp565 NP_997254.3 "G144E,G429E,K634T" "0,0,0" 387640 2572 dbsnp5654 NP_694591.2 "A1313V,D1351A,D1360N,E1124K,E582K,F1278C,H341R,I733T,K1125R,K293E,L2M,L2V,P111L,P758L,Q858E,V1172I,V1182I,V303L,V841F,W1029R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 122402 1015 dbsnp5655 NP_932349.2 "A103S,A49T,A72V,D42N,E131K,E94K,G108E,G43W,G45D,H58Q,L126I,L200Q,M19L,N194K,Q2H,Q71H,R23G,R27Q,R56G,R96W,S125N,T75M,V61L,W134C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 317749 11258 dbsnp5657 NP_919277.2 "A1591T,A511T,D1080N,E1022G,E476Q,E803K,G830A,H1012Y,H1147Q,K607E,L824V,M817V,M855I,N1246S,N1964K,N834I,P1758L,R1797K,R2074H,S1223F,S2036P,S853L,T1530K,T931A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 253959 385 dbsnp5668 NP_056499.2 D134N 0 27109 12639 dbsnp5673;hgmd0613_2409 NP_786924.2 "A7T,D401N,G262S,Q289E,R10Q" "0,0,0,0,0" 55148 8044 dbsnp5674 NP_067083.1 "A417V,A474T,G15V,H392Q,K10E,M416V,S408R,V120M,V263I" "0,0,0,0,0,0,0,0,0" 53349 3392 dbsnp5678 NP_001189358.1 "R59C,T3M" "0,0" 51676 4744 dbsnp5680 NP_612485.2 "A66V,G153W,P64S,R106S,R126W" "0,0,0,0,0" 145553 13126 dbsnp5682 NP_001186752.1 "A83V,G170W,P81S,R123S,R143W" "0,0,0,0,0" 100528064 13126 dbsnp5683 NP_054888.2 "A120V,E219G,E57D,E73Q,G196R,P248S,R3Q,R49G" "0,0,0,0,0,0,0,0" 29082 11589 dbsnp5686 NP_001095838.1 "A148T,A148V,A250V,A377T,A453T,A521P,A534T,D201N,D507N,D512N,D615V,E351D,G190R,G224R,G588D,I307T,I520V,M258T,M576L,P166S,R10C,R275G,R441H,R504W,S242N,S587N,T256A,T618M,V240L,V380G,V519I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80017 4898 dbsnp5689 NP_005785.1 "A150V,F13L,G84R,G95R,I217M,L232F,N186S,R209W,R279Q,R30G,R37W,R55H,R75W,R7Q,R7W,S143G,T42M,V180A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10202 10860 dbsnp569 NP_997255.2 "A104V,A153S,D275N,D299E,E169K,H238R,H7Y,I301T,L131P,R180H,R242C,R294C,R303C,R345W,S240L,V302I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 387694 7924 dbsnp5690 NP_878912.1 "G283S,V292A" "0,0" 10202 10860 dbsnp5692 NP_065869.3 "A154V,A1711V,A1949T,A2428E,A542S,D1821E,E1386K,G2267S,I1837V,I779T,I870V,K2006N,K2006R,L100V,L1304F,M644T,P1365S,P1712L,P1759L,S1194C,S1576L,S516L,V1420A,V1493I,V2409M,V387I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57578 204 dbsnp5693 NP_001025162.1 "A173S,A346P,C7Y,F444L,G289A,K319R,L342V,Q86E,R178Q,R212H,R286C,R286H,R418H,S92T,V329A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64745 7047 dbsnp5696 NP_001156981.1 "A457T,D414N,E78K,G11A,G24R,G301R,K171T,L17P,L313F,L44R,N168T,N244S,P23S,R128H,R285Q,R333C,R345H,R426C,R426H,R43H,R85Q,R93W,S304G,S324C,T30M,V464I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26094 6746 dbsnp57 NP_940898.1 "A352V,A645T,A92T,A9T,C11S,E131G,G584R,G642R,H456Y,H496Y,I75F,P151T,R371W,R416C,R446C,R466L,R643I,R682W,R69M,S223N,S724L,T232M,T246M,T420N,V366M,V483M,W710R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 3567 dbsnp5702;dbsnp5703 NP_955453.1;NP_543143.1 "C102F,E3G,G54S,N192S,N282S,S413P" "0,0,0,0,0,0" 122809 6047 dbsnp5704;dbsnp5705;dbsnp5706 NP_689545.1;NP_001122067.1;NP_001122068.1 "E356A,N163S,P122A,P67L,T151M,T261S,V391L,V43A,Y131C" "0,0,0,0,0,0,0,0,0" 123036 6838 dbsnp5720 NP_001123579.1 "A595V,A617T,V529A" "0,0,0" 3831 4727 dbsnp5722 NP_056288.2 "A1643G,A259T,A538T,C1427Y,D304G,G1676R,G370S,I129M,I1838T,I622V,K1870E,L1807F,L633P,M853T,N1263T,P173A,P67L,P720S,Q1910R,R1275H,R266K,R494Q,S252C,T1515M,T1716R,T1825A,T1920A,T51I,V1407A,V1734A,V886M,Y974N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25938 402 dbsnp5726 NP_001155198.1 N67K 0 5527 5119 dbsnp5727 NP_001155197.1 "A546P,E37G,K504Q,R526L,R62G,V82I" "0,0,0,0,0,0" 5527 5119 dbsnp5728 XP_003403568.1 "A163G,M113T,S116N,S60L" "0,0,0,0" - 13543 dbsnp573 NP_001139629.1 V35L 0 643161 14760 dbsnp5734 NP_872315.2 "M211I,P263L,R279Q" "0,0,0" 145501 5531 dbsnp5736 NP_078919.2 "E329K,G314V,M16T,P25A,R298G,S98G" "0,0,0,0,0,0" 79696 7472 dbsnp5745 NP_060506.5 "F1238S,F1801S,G1466V,H1984P,I1360T,I1969V,K1760E,K1826R,L1280F,N1594S,N479S,P2037L,Q145H,R107H,R1701S,R1981G,R402H,S1207F,S1465P,T1261I,T1534S,V1687M,V454M,Y587H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55102 386 dbsnp5746 XP_003118962.1 "A62P,L122F,M49K,R106H,R30S,S100C,S72F" "0,0,0,0,0,0,0" - 13750 dbsnp5752 NP_473365.3 "A351G,D449G,D547H,D614G,E496G,G313V,G85E,G85R,H411Y,I141M,P216S,P443Q,S250P,S344P,T429M,T532M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117153 4549 dbsnp5757 NP_003804.2 "A117G,A432V,C109S,D101N,E429Q,E606A,F129C,G174S,H482R,H542Y,H632Q,I161V,I299V,I671V,K247Q,L303R,L473F,M705T,N640S,P40L,P572S,R539S,R66Q,R96C,S24P,S50G,V180I,V73I,Y143H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8747 3400 dbsnp5758 NP_036377.1 "R78Q,S252F" "0,0" 22938 6048 dbsnp5761 NP_001157871.1 "A280T,D738H,E295K,E762K,G164R,G507E,K363R,K633Q,L684F,N673S,P781Q,R605T,S689N,S689R,T790I,Y572C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 729665 3038 dbsnp5766 NP_001189476.1 "L100S,N15S,N26T,R4K,V9I" "0,0,0,0,0" 100529257 13156 dbsnp5786 NP_783866.2 "A42V,H254Q,P142L,P236L,P341L,P41L,Q111E,R310I,R72H,S83G,T57I,V348A" "0,0,0,0,0,0,0,0,0,0,0,0" 327657 7865 dbsnp5792 NP_001159742.1 "A158T,D145A,M236K,Q100R,R217C,Y138C,Y222S" "0,0,0,0,0,0,0" 54930 9348 dbsnp5795 NP_001131073.1 "A134T,E232K,P337L,R326Q" "0,0,0,0" 100128927 8115 dbsnp5807 NP_976046.1 "E170D,I297T,I464V,K486N,N222D,P119S,Q505K" "0,0,0,0,0,0,0" 254170 5772 dbsnp5809 NP_056471.1 "A1122S,A1378V,E122K,E1807K,E639D,E937G,K1696R,P398L,R1064Q,R1125L,R1132H,R531W,R978W,S885Y,V516F,V516I,V521L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26153 503 dbsnp5815 NP_919263.2 "G315S,H115Y,L270P,M105V,M166V,N329S,R271W,R62W,S215L,T249M,V110M,V37L,V450A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 145497 6876 dbsnp5816 NP_004187.2 "K311E,K342N,L330V,L56F,L56V,L67P,N302D,P43S,Q275E" "0,0,0,0,0,0,0,0,0" 8814 9480 dbsnp5817 NP_001004715.1 "G294C,G294S,K159N,K323Q,L7V,L93F,Q120R" "0,0,0,0,0,0,0" 390436 9711 dbsnp5818 NP_001075957.1 "L203Q,R5G,R63S,R98Q,V210A" "0,0,0,0,0" - 11258 dbsnp5819 NP_001017963.2 "M71L,Q107R" "0,0" 3320 2876 dbsnp582 NP_001165442.1 P709R 0 92211 2838 dbsnp5856;hgmd0613_592 NP_001030024.1 "A296T,G85R,I55F,L35V,P52S,P77L,R349S,R382W,V82M" "0,0,0,0,0,0,0,0,0" 64093 7459 dbsnp5868 NP_008819.1 R91Q 0 801 13934 dbsnp587 NP_001139812.1 "A108V,A271E" "0,0" 390010 10657 dbsnp5871 NP_001171083.1 "I34M,L35V,N53K,S109C" "0,0,0,0" - 12396 dbsnp5873 NP_001230013.1 C5R 0 3091 2899 dbsnp5879 NP_982292.1 G111R 0 122769 8294 dbsnp5883 NP_001128347.1 "G202S,G225R,M219T,P155A,P275R,P355L,P63L,Q389R,R201C,R231Q,R231W,R235H,R284H,R367Q,R398C,R399Q,R405W,R415C,S205G,Y199C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283643 8023 dbsnp5885 NP_001153576.1 "E457Q,N351K,P704L,P96A,Q46K,S285C,S435F,V254I,V478I,Y273C" "0,0,0,0,0,0,0,0,0,0" 79882 3738 dbsnp589 NP_004499.2 "C13Y,K242T,W266R" "0,0,0" 3422 11204 dbsnp5890 NP_001180564.1 "C5G,E66K,R68W,T47M" "0,0,0,0" 317749 11258 dbsnp5891 NP_001123477.1 "D210H,D210Y,G194R,G864C,P861L,R291H,T863S,V228I" "0,0,0,0,0,0,0,0" 87 2368 dbsnp5897;dbsnp5898;dbsnp5899 NP_542397.1;NP_001245201.1;NP_001008726.1 "A321V,E58G,I216V,I52V,V369M,Y86F" "0,0,0,0,0,0" 112840 8858 dbsnp5900 NP_001119578.1 "E376D,F335S,G306R,I460M,R355Q,V31L,Y233C" "0,0,0,0,0,0,0" 9056 6398 dbsnp5903 NP_009107.1 "Q136K,V15G" "0,0" 11161 14089 dbsnp5909 NP_150287.1 "A339T,D191G,D333H,E851D,G577S,I285V,I489M,I819V,N441S,R313H,R314G,R355H,R355L,R622H,T641N,V419M,V602I,V602L,V793M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6547 2222 dbsnp5912 NP_689539.1 "A289G,L232M,P115L" "0,0,0" 122416 10482 dbsnp5913 NP_003073.1 "H153P,M36R,P201S,P315L,R312G,T253M,V272L,V76A,W63C" "0,0,0,0,0,0,0,0,0" 6617 9239 dbsnp5918 NP_689658.2 "A592V,D29E,E118Q,E86K,G21E,G253S,G74A,K550R,L149F,L630P,L685P,M567T,P28L,P688S,Q172R,Q221R,R194C,R217Q,R280W,R380C,R665S,S399A,T343A,W19R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 145483 3975 dbsnp5919 NP_071406.1 "A520P,A557S,D438E,G665S" "0,0,0,0" 64067 2418 dbsnp5925 NP_001106970.2 "D297E,E112G,G18A,G50S,R122W,R237Q,R751S,V677F" "0,0,0,0,0,0,0,0" 161357 2004 dbsnp5928 NP_056491.1 "I104V,K118N,L59W,L76M" "0,0,0,0" 26175 13561 dbsnp5930;dbsnp5931 NP_942089.1;NP_006566.2 "H417Q,K473N,K491E,L392V,Q683R,R736T,T42I,T563I" "0,0,0,0,0,0,0,0" 11183 2923 dbsnp5935 NP_001229346.1 Q160P 0 91833 5137 dbsnp5940 NP_851808.1 S571R 0 91833 5137 dbsnp5941 NP_001010854.1 "A522G,E806K,L544F,L742I,R308W,R79C,V495I,V658I,Y136C" "0,0,0,0,0,0,0,0,0" 145567 2940 dbsnp5947 NP_001158246.1 "A75T,T60M" "0,0" 4287 9317 dbsnp5958 NP_001184113.2 "A157T,F83L,G123D,I221N,I263T,I314V,M79L,P142L,R143H,R209C,V116I" "0,0,0,0,0,0,0,0,0,0,0" 2856 10076 dbsnp5959 NP_001244197.1 "F119S,H195Y,I166R,K11R,L44I,S129N" "0,0,0,0,0,0" 647286 13014 dbsnp5972 NP_001014830.1 "C88F,E294K,G246D,M25T,R194Q,S43G" "0,0,0,0,0,0" 196913 10302 dbsnp5973 NP_056404.4 "E396D,G589S,H111D,L284I,M210V,M259T,P425T,R194Q,R430Q,T231M,T236P" "0,0,0,0,0,0,0,0,0,0,0" 23034 3897 dbsnp5977 NP_899243.1 "A1787E,D903N,I269V,L1139V,M145V,T194M,V1235M" "0,0,0,0,0,0,0" 161436 440 dbsnp5989;hgmd0613_2218 NP_443105.2 "A85T,D94N,E34K,R133Q" "0,0,0,0" 112752 12679 dbsnp5993;dbsnp5994 NP_060425.2;NP_663747.1 "A135V,D190N,D93N,G229R,S223T" "0,0,0,0,0" 55038 12108 dbsnp5998 NP_919255.2 "K85R,R51C" "0,0" 122961 13840 dbsnp6000 NP_150374.2 "G395R,H274Y,H309L,L402F,R229L,R229Q,R273G,V435I" "0,0,0,0,0,0,0,0" 90135 6266 dbsnp6001 NP_062826.2 "H216P,M337T,R36W,R568K,S30L,V562A" "0,0,0,0,0,0" 56339 5411 dbsnp6002;dbsnp6003 NP_001139500.1;NP_115828.2 "A502T,A504T,G583R,P482S,P496S,P580H,R425H,W499L" "0,0,0,0,0,0,0,0" 84502 4821 dbsnp6008 NP_001017970.1 "A139V,A154V,D249E,D348V,P91L" "0,0,0,0,0" 161291 9405 dbsnp6014;hgmd0613_627 NP_001073136.1 "A365S,P67S,R10Q" "0,0,0" 7080 8569 dbsnp602 NP_872407.1 "F151I,F414L,G111D,L407P,M124L,R128H,R342Q,R342W,R62Q,T383I,T405S,V323I" "0,0,0,0,0,0,0,0,0,0,0,0" 79949 7305 dbsnp6022 NP_057421.1 "I40V,P309A,R259W,R87C" "0,0,0,0" 51466 8213 dbsnp6026 NP_004787.2 "D141A,G300R,K248R,R308S,R407W,R51Q,R671H" "0,0,0,0,0,0,0" 9369 7422 dbsnp6027 NP_660154.3 "E88K,R63C,T124S,T125A" "0,0,0,0" 122876 14244 dbsnp6034 NP_149132.2 "G503S,H891Y,P580L,P664L,P797S,R517C,R719H,R762C,R904Q,S1054R,S115R,S115T,T962S,Y646C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4293 1665 dbsnp6036 NP_777551.2 "D323N,F222Y,L196R,S75R,T311I,T63S" "0,0,0,0,0,0" 122616 10278 dbsnp6046 NP_997262.1 "A165T,S148N" "0,0" - 13039 dbsnp6049 NP_065154.2 "A451T,G440D,G63A,K362E,L514V,L57P,R367P,R367Q,R501H,R510Q,R510W,S125R,S418G,T156M,V175L,V175M,V271A,V398I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57143 6244 dbsnp6051 NP_758964.1 "A188S,A599G,A621T,D498N,F390L,I308M,I469F,T114R" "0,0,0,0,0,0,0,0" - 2149 dbsnp6053 NP_056131.2 "G422S,G844E,I170V,I444M,P348R,S398T" "0,0,0,0,0,0" 23368 1752 dbsnp6056 NP_006023.1 "R399H,R59H,S516A,V143M" "0,0,0,0" 9362 4764 dbsnp6057 NP_997000.2 "C39Y,G161R,R135L,R214Q,R214W,R256W,R272W,T29M,T308I,V108I" "0,0,0,0,0,0,0,0,0,0" 283600 10697 dbsnp6059 NP_775797.2 "A380V,E384K,H22R,N407D,N50S,P235S,S231C,S279F,S60F,S78T,T197P,Y62F" "0,0,0,0,0,0,0,0,0,0,0,0" 161142 8116 dbsnp6060 NP_006390.1 P18A 0 10538 14332 dbsnp6063;dbsnp6065 NP_001231627.1;NP_004917.2 "A78G,P50T" "0,0" 677 8443 dbsnp6066 NP_941959.1 "G173V,P124L,R166K,W175G" "0,0,0,0" 376267 12792 dbsnp6072;dbsnp6073 NP_065887.1;NP_001153003.1 "D176N,D201N,P218Q,R561L" "0,0,0,0" 57596 5232 dbsnp6083;dbsnp6084 NP_001035946.1;NP_689543.1 "D570E,E333K,G388S,K213R,R16C,R483Q,T398M,T557S,V43I" "0,0,0,0,0,0,0,0,0" 122786 4984 dbsnp6085 NP_001034568.1 "I189V,Q119E,R448Q,V50M" "0,0,0,0" 9870 3073 dbsnp609 NP_001165403.1 "P386S,T383A" "0,0" 64072 111 dbsnp6091 NP_057046.1 "A42T,M107T,M177V,P52L,V106A,V87M" "0,0,0,0,0,0" 51077 13015 dbsnp6093 NP_060387.2 "D402N,E41K,K378E,R58Q,V363I" "0,0,0,0,0" 55012 7536 dbsnp6094 NP_001116801.1 "A531P,D502E,R391Q,T203N" "0,0,0,0" 22890 3941 dbsnp6096 NP_997545.2 "E102G,E106K,R99T" "0,0,0" 79882 3738 dbsnp6097 NP_116265.1 "E310Q,M418V,P44L" "0,0,0" 84962 4310 dbsnp6098 NP_055549.1 "A241T,G37V,H253P,L134F,R245W,V252G" "0,0,0,0,0,0" 9766 10803 dbsnp6099 NP_003805.3 "A576S,C407G,C497R,F426C,G592S,I309T,L750F,M221V,N241D,N560D,Q281K,Q342H,R767C,R767H,W310R,Y164H,Y554C,Y718C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8748 3400 dbsnp6101 NP_062535.2 "G1480R,P254L,P594T,P636A,R1081T,R1393G,R1692C,T274I,V1539L" "0,0,0,0,0,0,0,0,0" 56252 359 dbsnp6102 NP_065714.1 "I213V,K4R,P117A" "0,0,0" 57381 12659 dbsnp6104;dbsnp6107 NP_001035366.1;NP_001035365.1 "F325L,I22V,I3V,K368E,L270F,Q267H,R221G,R93H,S408F,V229M,W439C" "0,0,0,0,0,0,0,0,0,0,0" 2100 6136 dbsnp6109 NP_778230.1 "D324N,D393N,L164P,R217Q,R348Q,S375N,T275A,V131L,Y192F" "0,0,0,0,0,0,0,0,0" 161198 6846 dbsnp6110;dbsnp6111;dbsnp6112 NP_001185521.1;NP_001185497.1;NP_640340.2 "A50V,D448N,E453V,G928S,L902P,M959T,P1002Q,P777L,R254W,R577L,R951W,R982C,S373R,T503P,T833M,V274M,Y774H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196883 1747 dbsnp6114 NP_001099049.1 "S31R,T155M" "0,0" 646658 12170 dbsnp6116 NP_037477.1 "A209V,A267T,A352S,R103H" "0,0,0,0" 29933 8981 dbsnp6117 NP_009123.1 "A415G,I363V,R1033H,S113C" "0,0,0,0" 11198 1914 dbsnp6124 NP_055643.1 "I332T,I332V,P455L,Q504K,R481Q,S514N,S523I,S552F,V351M" "0,0,0,0,0,0,0,0,0" 9878 4899 dbsnp6125 NP_008908.2 "D177N,I174L,I174V,I89T,L10F,S289R,T180I" "0,0,0,0,0,0,0" 7597 7866 dbsnp6126 NP_036206.3 "A188T,A189T" "0,0" 8110 8305 dbsnp6127 NP_001017923.1 "E309D,G31D,G31V,K197R,P177L,R39H,S234F,T162A,V26I" "0,0,0,0,0,0,0,0,0" 122525 10659 dbsnp6128 NP_001008404.1 "H80R,R68C,R72Q,R96Q" "0,0,0,0" 400258 13724 dbsnp613 NP_942090.1 "A117T,A344T,G91V,I245V,M1085K,N83S,N945Y,R135H,R537L,S1066N,S5L,T159I,V1111A,V439M,V640M,V718I,V720I,V864L,Y1138C,Y311C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56165 1452 dbsnp6130 NP_071919.2 "E235K,E468K,E71Q,H29Y,I265T,P340L,R241T,R263H,R60W,S141Y,S177N" "0,0,0,0,0,0,0,0,0,0,0" 64398 4319 dbsnp6131 NP_542784.1 "D183Y,E180K,I131F,I131V,R139C,R90Q" "0,0,0,0,0,0" 140801 12624 dbsnp6146 NP_036243.1 "F235C,R336H,V133A" "0,0,0" 10598 9954 dbsnp6147 NP_006237.1 V382I 0 5529 5119 dbsnp6148 NP_001184216.1 "C266F,I49T,K181M,N301S,P269S,S268G,Y156C" "0,0,0,0,0,0,0" 79334 9791 dbsnp6151 NP_001185882.1 "K112R,L140F,R139C,R49T" "0,0,0,0" 79038 11873 dbsnp6154;hgmd0613_1225 NP_004536.2 "M66L,R81Q,R86W" "1,0,0" 4707 14586 dbsnp6155 NP_001239436.1 "M13I,V77M" "0,0" 56967 14812 dbsnp6156 NP_085140.2 "D326H,E245K,G106A,G150C,H803R,N314S,Q374K,R570Q,V796I" "0,0,0,0,0,0,0,0,0" 80821 2618 dbsnp6159 NP_954634.1 "A401V,D188N,G335S,M1I,M1L,P290R,P58R,W167C,W372S" "0,0,0,0,0,0,0,0,0" 122622 6675 dbsnp6160 NP_110418.1 "A45V,M204I,N283S,N396S,Y433F" "0,0,0,0,0" 81537 7752 dbsnp6162 NP_003607.1 "C221F,G157R,L153S,L6M,T134S" "0,0,0,0,0" 8487 11278 dbsnp6165 NP_659422.2 "A58T,A671G,E636K,H415N,M294I,N100D,R280W,R32W,R332S,R462H,R532Q,S134T" "0,0,0,0,0,0,0,0,0,0,0,0" 64403 3096 dbsnp6168 NP_009008.2 "I125V,I36T,K10R,M116I,R28C,Y52H" "0,0,0,0,0,0" 11154 13751 dbsnp616;hgmd0613_2320 NP_663736.2 "D392E,K124E,P323Q,S155I,T39M,T463M,V360I" "0,0,0,0,0,0,0" 91452 6071 dbsnp6174 NP_997260.1 "G58S,K66E,R108Q" "0,0,0" 387990 13890 dbsnp6176 NP_001138467.1 "G292A,P332A" "0,0" 317762 8182 dbsnp6177 NP_001013372.1 "A140V,A51E,E289V,F27L,I86T,L235I,M96I,R143H,R143L,R69Q,S90F,T255N,V63A,V89A,W68R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440153 9791 dbsnp6178 NP_001229936.1 "A19P,D35N,E407G,H372N,K127R,P318R,S78P" "0,0,0,0,0,0,0" 283571 5249 dbsnp6179 NP_001005356.1 "A127T,A146T,D330E,F290Y,G47E,H86D,L356S,L379S,L57P,P434R,S12F,S76G,V214I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 404785 1801 dbsnp6180 NP_055130.1 "A214V,D7N,L273V,R124G,V232M" "0,0,0,0,0" 23588 8470 dbsnp6181 NP_001128472.1 "H23Y,I538V,I581M,I593T,K238R,T513M" "0,0,0,0,0,0" 10979 4194 dbsnp6184 NP_758525.1 "R126W,R156Q,R158H,R84W,V100I,V153A" "0,0,0,0,0,0" 64806 13420 dbsnp6187 NP_057110.3 "E79K,F255L,P134L,R218W,S136L,V123I" "0,0,0,0,0,0" 51109 10450 dbsnp6191 NP_000947.2 "C83G,Y285C" "0,0" 5732 9481 dbsnp6198 NP_981947.1 "F204L,R117H,R169H,R284H,R53W,R77Q,V134M" "0,0,0,0,0,0,0" 161247 11054 dbsnp6199 NP_001140155.1 M1T 0 643382 12596 dbsnp6204 NP_001040.1 "A45V,R28K" "0,0" 6751 8781 dbsnp6205 NP_065105.2 "A411V,L479M,S58L" "0,0,0" 51310 6021 dbsnp6207 NP_892016.1 P38S 0 341947 14867 dbsnp6208 NP_938051.1 "A451V,D55G,G401R,G93V,K85R,M295V,N90S,Q408R,R433W" "0,0,0,0,0,0,0,0,0" 123016 6396 dbsnp6211 NP_848702.1 K446T 0 5527 5119 dbsnp6212 NP_115728.2 "D77A,E31D,I139M" "0,0,0" 84312 10332 dbsnp6213 NP_001015049.1 H4R 0 9529 6877 dbsnp6219 NP_003852.1 "A601V,A689S,I603V,I642T,I94V,R584Q,R589H" "0,0,0,0,0,0,0" 8816 2380 dbsnp6221 NP_060947.1 "K26R,M48L" "0,0" 55860 8242 dbsnp6222 NP_112487.1 "A10V,A11S,A6S,D85G,K107R" "0,0,0,0,0" 81892 14548 dbsnp6223 NP_788955.1 R235K 0 5720 11918 dbsnp6227 NP_057123.1 "A132P,I223V,N27I,P104L,R145C,R145H" "0,0,0,0,0,0" 51637 12040 dbsnp6228 NP_001019993.1 "E127A,M1I,P40S,S99N,V67G" "0,0,0,0,0" 493901 13980 dbsnp6229 NP_001094811.1 R52Q 0 253970 14729 dbsnp622;dbsnp624;dbsnp625 NP_055287.4;NP_612478.2;NP_001243549.1 "A402V,A681V,A700S,D535A,E244Q,E457K,E744K,E744Q,G291V,H566R,I507L,I573V,I676V,K178N,K238N,N258S,N294S,N373S,P22S,P546S,R222G,R766Q,S261G,S326R,S450C,T267A,T381S,T405S,V155M,V543L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27291 3273 dbsnp6234;dbsnp6235;dbsnp6236 NP_878269.1;NP_878272.1;NP_067001.3 "F41L,G241S,H191D,N212D,S268P" "0,0,0,0,0" 57820 11331 dbsnp6237 NP_071343.2 "D339N,E64G,E64K,G106R,M285V,P187S,R268C,R273Q" "0,0,0,0,0,0,0,0" 63874 9676 dbsnp6238 NP_115801.3 V593M 0 84439 3339 dbsnp6241 NP_612469.1 "I121V,L65M,R143Q,R8W,R97H,Y59C" "0,0,0,0,0,0" 116173 13801 dbsnp6242 NP_689660.2 "A96T,F6L,G648S,K209M,R516S,S622F" "0,0,0,0,0,0" 145581 3297 dbsnp6246 NP_004560.1 "L91F,N125S,N61S,S106L,T72S" "0,0,0,0,0" 5283 13216 dbsnp6247 NP_803877.2 "G106S,G85R,K32N,L148Q,L46I,R52W,T149S,V146M" "0,0,0,0,0,0,0,0" 256281 12498 dbsnp6248 NP_055245.2 "E208K,P37T,R122W,T97M" "0,0,0,0" 27141 12555 dbsnp6249;dbsnp6250;dbsnp6251 NP_001230703.1;NP_001230702.1;NP_444292.1 P55L 0 54331 14854 dbsnp6256 NP_001106946.1 "I140L,L119F,R29C,V154I" "0,0,0,0" 122945 9461 dbsnp6257 NP_002019.1 "E429D,K418T,P405R,R358H,S431L,V385L" "0,0,0,0,0,0" 2342 6702 dbsnp6258 NP_001189487.1 M1V 0 100529261 6702 dbsnp6259 NP_001189488.1 "C57F,E490D,K479T,N47K,P466R,R419H,S492L,V11I,V446L,Y84C" "0,0,0,0,0,0,0,0,0,0" 100529261 6702 dbsnp6261 NP_002623.2 "E98G,P139L,R114W,R134W,R169Q" "0,0,0,0,0" 5228 13545 dbsnp6264 NP_060277.1 "C110R,E223K,L119F" "0,0,0" 55644 10029 dbsnp6266 NP_001154970.1 "E182Q,E265K,P280A,R315C,R349W,R482C,S327P" "0,0,0,0,0,0,0" 400224 6550 dbsnp6267 NP_001242924.1 G99V 0 112752 12679 dbsnp6271 NP_001019845.1 K115R 0 91750 14454 dbsnp6272 NP_001011713.2 "A130S,K128E" "0,0" 122830 9369 dbsnp6273 NP_006075.3 "P216Q,P342A,Q127H" "0,0,0" 10379 8733 dbsnp6274 NP_001190992.1 "C57F,N47K,V11I,Y84C" "0,0,0,0" 91612 6702 dbsnp628 NP_004239.1 "A185E,A44T,L173Q,P305L" "0,0,0,0" 2834 9191 dbsnp6280 NP_001303.1 E33D 0 1397 12793 dbsnp6282 NP_620426.2 "A7T,I71V,R331T" "0,0,0" 9369 7422 dbsnp6283 NP_751943.1 "D36H,G190S,K368E,T201M,Y226C" "0,0,0,0,0" 122773 8471 dbsnp6284 NP_660089.1 V69I 0 4149 13722 dbsnp6293 NP_001796.2 "L155M,L69F,S281N" "0,0,0" 1053 11259 dbsnp6294 NP_067072.3 I247T 0 58533 8214 dbsnp6296 NP_002797.3 "P18A,P18S" "0,0" 5706 8527 dbsnp6297 NP_001034444.1 "K51Q,R148C" "0,0" 123096 10804 dbsnp6298 NP_067080.1 "G138R,Q48L" "0,0" 58157 13908 dbsnp6299 NP_001353.4 "E81D,L183V" "0,0" 1735 10784 dbsnp630 NP_001121674.1 "R142H,S33R,T27A,T35K,V181I,Y147C" "0,0,0,0,0,0" 387718 13240 dbsnp6300;dbsnp6301 NP_004041.1;NP_001186768.1 "R161H,R78C" "0,0" 599 10077 dbsnp6302 NP_001186793.1 "M194I,P180S,R78C" "0,0,0" 100529063 10077 dbsnp6303 NP_054897.4 E83K 0 29091 12753 dbsnp6305 NP_001155049.1 A294T 0 23034 3897 dbsnp6307 NP_057078.1 "R179Q,R182C" "0,0" 51382 11981 dbsnp6308 NP_001229344.1 "H179Q,Q160P" "0,0" 91833 5137 dbsnp6309 NP_954574.1 A294T 0 84193 5206 dbsnp6310 NP_001229719.1 V75M 0 2972 4298 dbsnp6311 NP_002779.1 A165V 0 5684 11808 dbsnp6314 NP_891553.2 R573H 0 3831 4727 dbsnp6315 NP_653179.1 A21V 0 93487 12014 dbsnp6316 NP_776248.1 A72T 0 145258 11768 dbsnp6317;dbsnp6318 NP_660294.1;NP_001124173.1 "E19K,G200S,S109I" "0,0,0" 6815 12482 dbsnp6319 NP_775878.2 "M178T,Q26R" "0,0" 283635 12208 dbsnp631;dbsnp632 NP_055651.1;NP_001229288.1 "A614S,E334Q,G182V,G515R,S352N,V135I" "0,0,0,0,0,0" 9886 3623 dbsnp6321 NP_001034860.1 R182H 0 643866 12864 dbsnp6322 NP_006659.1 "G387S,R461W" "0,0" 10858 6676 dbsnp6323 NP_001094284.1 R212C 0 90809 11205 dbsnp6330 NP_001034708.1 "M512V,P333S" "0,0" 10419 4725 dbsnp6332 NP_803235.1 "D54V,M118V,T75A" "0,0,0" 122553 13494 dbsnp6338 NP_872332.1 R66Q 0 161145 13597 dbsnp6340 NP_060392.3 "F172Y,M456V,N399S" "0,0,0" 55015 4391 dbsnp6341 XP_003118966.1 S171R 0 - 11424 dbsnp6342 NP_003127.1 K293R 0 6729 6593 dbsnp6344 NP_057552.1 L16V 0 51241 13156 dbsnp6347 NP_002793.2 R371K 0 5700 7772 dbsnp6348 NP_006480.2 F115L 0 4857 6535 dbsnp634;dbsnp635 NP_001137243.1;NP_001137242.1 M1V 0 220929 3040 dbsnp6351 NP_005767.1 V64I 0 10175 13732 dbsnp6353 NP_115949.3 V788M 0 - 2901 dbsnp6354 NP_001092872.1 R121H 0 8812 5412 dbsnp6355 NP_001138914.1 "A127T,I365M,W148S" "0,0,0" 641455 1801 dbsnp6375 NP_001035706.1 "A738V,D378G,D630N,E366D,E676G,G18R,G707R,I188V,K436N,M605V,M89I,N185S,R240W,R58G,T242S,T375I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55180 3545 dbsnp6376 NP_001186689.1 "E174K,R50Q,T178A,T83I,V95L" "0,0,0,0,0" 100528021 12897 dbsnp6392 NP_001139813.1 "D5N,L442I,M524I,P291L,P369R,P427H,S410N,T348N" "0,0,0,0,0,0,0,0" 390616 6060 dbsnp6402 NP_877435.2 "D1071H,D495V,E302Q,H116Q,H166Q,H267Y,K767E,L612I,P1084R,P306L,P780L,T350A,V786G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 256764 1701 dbsnp6406 XP_001716886.2 "E35G,I185T,R110T,R58C,V120A,V129A" "0,0,0,0,0,0" - 13191 dbsnp6416 NP_116239.3 "E50V,M63T" "0,0" 84936 7183 dbsnp6426 NP_001185969.1 P22T 0 64220 4031 dbsnp6428 NP_150242.1 "A456T,A549T,A578T,A585V,A628T,A802P,G461A,G700R,G780D,G780V,Q716R,R673C,R724Q,R726Q,R825H,S772G,S772R,V766M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5371 2702 dbsnp6429 NP_006729.4 Q1591H 0 11214 171 dbsnp6432 NP_004321.2 "D50A,G44R,N168S,N310D,N310Y,P17L,P53L,P56L,R26S,S145T,T208S,T64A,V42A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 663 136 dbsnp6433 XP_003118713.1 "I47S,K109Q,M1R,T52A,T6I" "0,0,0,0,0" - 4775 dbsnp6435 NP_057726.3 "A2602V,A2783V,A2976V,A3198T,A3240G,A3495V,A618V,C1000R,C1735F,D409G,E1939K,E2075K,E2479G,E506K,F396L,G1308R,G2606S,G2786R,G3065C,G865S,H1018Y,H1877R,H2823Q,H398R,I3584V,L1201P,L1239Q,L335F,M1450V,M236V,N2221D,N3529T,N612I,P3251S,Q1666P,Q1670R,Q1884R,Q2816E,Q2827R,Q960H,R1310H,R1319Q,R1332T,R1465Q,R1525H,R1765C,R1809S,R1831Q,R1906Q,R198H,R2081Q,R2194W,R2303W,R2427W,R248C,R257K,R2707Q,R2756L,R285C,R2915Q,R3377C,R74C,S1410L,S1512C,S234C,S302L,T2678I,V1025I,V1933M,V2413M,V2787M,V533M,V959M,Y2922H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51332 92 dbsnp6447 NP_003604.3 "A1114S,E307K,E479Q,E648K,G1012E,G1093S,H509N,I847T,K300R,L232F,N1110S,N843K,P404R,R1094Q,R125Q,R136C,R412Q,R431C,R448H,R493W,R573W,R655W,R78H,R900W,R95Q,T206P,T486M,T49I,V429M,V678M,V8M,Y1132F,Y915S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8483 1469 dbsnp6449 NP_001136092.1 L152M 0 64220 4031 dbsnp6463 NP_995580.1 "A112V,D133H,M120I,P73T" "0,0,0,0" 4828 13841 dbsnp6471 NP_612193.1 R971H 0 5046 515 dbsnp6487 NP_689547.2 "A39S,A96G,G255S,I351V,I439L,K622Q,L192M,M244I,P256L,Q560H,R502H,R536C,S275G,S718G,T196M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 123283 3199 dbsnp6499 NP_001238953.1 "I7L,V19G" "0,0" 4308 694 dbsnp6503 NP_001138516.1 "C678Y,E294D,E680K,I560V,I639F,I672T,R307S,V515I,V690M" "0,0,0,0,0,0,0,0,0" 28232 3973 dbsnp6506 NP_001171761.1 C234S 0 6557 1388 dbsnp6508 XP_003118715.1 "A13V,M60V" "0,0" - 8117 dbsnp6509 NP_061831.2 "A93V,D1016Y,D347Y,E264Q,F108S,F216I,G1010R,G1101D,G183R,G539R,H613Q,I141T,L1036F,L465F,M221I,M700V,N323K,N577D,N683S,N698S,P237L,P516S,P656L,P693L,Q1042H,S1030G,T556A,T886A,V1111A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23742 1537 dbsnp6511 NP_079331.3 "A549V,G175C,G603R,M432L,M432V,P610L,R186Q,R245H,R337W,R437L,S480N,S737Y" "0,0,0,0,0,0,0,0,0,0,0,0" 80125 2290 dbsnp6512 NP_065894.2 "A1058V,A1140T,A1140V,G1048A,G1141R,I274V,K1114T,K51R,M1V,M739V,N1067S,P1089T,S195L,S32N,Y886F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 49855 983 dbsnp6516 NP_001193599.1 "A693T,E26D,E802K,G506S,H213Y,I811T,L105V,N400S,N667T,P326A,P50S,Q175R,R205Q,R288C,R466H,R528G,R643Q,R81Q,S675C,V168A,V307G,V631I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 123745 2781 dbsnp6521 NP_001229862.1 "D466N,E509K,H381Y,P271T,T532A,Y552C" "0,0,0,0,0,0" 6642 5741 dbsnp6524 NP_001186805.1 L90F 0 10169 13546 dbsnp6526 NP_004246.2 "A54G,G138E,K113N,T76I" "0,0,0,0" 9377 13924 dbsnp6532 NP_056307.2 "A162V,A329T,A860T,A98S,A98V,C775F,F225V,G617R,G76S,G914S,H33Y,K960N,N505S,P373L,P473H,P906L,R1007H,R1029K,R20C,R513H,R592H,R658H,R824C,R827S,S938L,T185S,T670M,V194L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56905 1913 dbsnp6534 NP_940682.2 "D129N,E70Q,G166S,G291R,G451A,H308Y,I268T,K1113R,L687F,L900I,M33V,N407H,N626S,N65K,P270L,R607Q,S189R,S29R,T16N,T727I,V141L,V185D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4734 1134 dbsnp6543 NP_612198.2 "L659S,L659V,V637I" "0,0,0" 5046 515 dbsnp6546 NP_689662.2 "A158V,A162V,A181G,D286A,H124L,K118M,N260I,P203L,P209L,Q294R,R274I,T196S,T32I,T77I,Y112H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 145748 10939 dbsnp6547 NP_060328.2 "G37C,P55L,S182P" "0,0,0" 54962 10839 dbsnp6548 NP_001025135.2 "A126T,E389Q,G333E,I239T,L166P,M276I,M57L,R158Q,R434L,R454T,R83Q,T262I" "0,0,0,0,0,0,0,0,0,0,0,0" - 2656 dbsnp6554 NP_001238949.1 "L9F,R6W" "0,0" 4308 694 dbsnp6558 NP_001157745.1 "A1520T,A606V,C1270R,D2908N,F1541S,F779I,G320D,H1325Q,K61E,L2558V,M741V,N1982H,N1982S,P1523A,P628Q,Q1973R,R140C,R2074H,R2861Q,R3038W,R330G,S2761G,S448T,T2874A,T338A,T407R,T716S,V1788I,V2890I,V3021A,W2758S,Y1453C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23269 139 dbsnp6566 NP_002882.3 "A1109T,D817N,E915K,N1100K,S752N,T809I,T818M,V1029L,V1053I,V886I" "0,0,0,0,0,0,0,0,0,0" 5923 1221 dbsnp6568 NP_004127.1 "A414S,E406K,G747E,G903D,I732F,I732V,I888V,P814L,T580S,T798I,V457L" "0,0,0,0,0,0,0,0,0,0,0" 3658 2261 dbsnp6569 NP_065129.1 "L21R,N73S,V101L" "0,0,0" 10017 12880 dbsnp6570 NP_057647.1 "A120T,A212S,A254V,Q207P,R185G" "0,0,0,0,0" 51285 11567 dbsnp6571 NP_061939.3 "D1130N,E1230D,K1055T,L1051I,L128P,L989V,P164S,P255L,P429L,R346S,T1006S,Y1104H" "0,0,0,0,0,0,0,0,0,0,0,0" 54551 1286 dbsnp6572 NP_001238959.1 "A127S,D3Y,G100A,G104A,I119M,N116S,P25L,S32N" "0,0,0,0,0,0,0,0" 4308 694 dbsnp6576 NP_060364.4 V140F 0 54993 4980 dbsnp6584 NP_786883.1 "A367V,E1015K,E453Q,G1002E,G1095V,M282T,M404I,N924S,P560L,P707S,P815S,Q457R,Q747E,R1108G,R1108Q,R507W,R509Q,S528A,S719G,S881I,T1122A,T1122M,V372I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256646 1622 dbsnp6592 NP_001181927.1 K1179N 0 22995 630 dbsnp6595 NP_001185517.1 "P886L,Q890R" "0,0" 8681 2062 dbsnp6596 NP_005081.1 "A28G,A447V,A508T,A573T,A606S,A925V,E22D,E341Q,E591A,E7G,G877R,G922R,L143R,L650V,L772R,M470I,P17L,P411L,Q217R,R1000C,R1005Q,R203W,R365C,R422C,R436C,R459M,R538W,R622H,R937W,S275N,T260I,T282M,T793M,T822I,T914P,V115M,V385I,V461L,V472L,V559I,V85M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8681 2062 dbsnp6600 NP_663780.2 "D1294N,D632N,D901H,D901N,E1081K,E1386G,E612A,E612V,E747K,E774K,G1130S,G1166R,G1345A,G1345R,G452R,H1327Y,I1472M,I861F,I923T,K1270E,L1301F,L306P,P1059L,P1059Q,P1059R,P567L,P567Q,P567R,P761L,P761Q,P761R,Q585R,Q910R,Q976L,Q976P,Q976R,R1041G,R1067P,R1405Q,R239C,R355W,R488W,S1077L,S1211F,S1360L,S421N,V1325L,V1376I,V1469I,V272A,V330I,V330L,V572L,V784A,W290S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23336 763 dbsnp6601 NP_612432.2 "E159Q,E222K,H238P,H279Y,K346N,L138F,N307H,N433S,Q113H,Y147C" "0,0,0,0,0,0,0,0,0,0" 113201 7843 dbsnp6611 NP_006145.2 "A165T,E169Q" "0,0" 4734 1134 dbsnp6614 NP_068595.3 "I78M,P44S,R82C,V188M,W76R" "0,0,0,0,0" 60490 12881 dbsnp6620 NP_001096654.1 "D569N,D623N,E1081G,E293G,E46Q,E754K,G171V,G239E,G382S,K598R,L463P,L631P,N611S,P274S,P649S,P683L,S365L,S37Y,T804I,V1063M,V1128M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342184 953 dbsnp6629 NP_653091.2 "A332P,A460S,I243V,I672L,K1259E,K1644R,L166S,M151V,M347V,M572T,N553S,P2044L,Q1988K,R43T,S2246F,T1447A,T2083N,T668K,T70A,T790S,T87A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57082 290 dbsnp6637 NP_742095.1 "A3P,A3S,E8G,I124T,R19C,V148L,V57I" "0,0,0,0,0,0,0" - 6131 dbsnp6646 NP_060080.6 "A465S,A718T,H182R,H495N,I296M,K47R,N892S,N9K,P500S,S191A,S254N,S366N,S435T,T467M,V161I,W184C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54778 2129 dbsnp6651 NP_510883.2 "F119L,G10R,L6R,N87D,P155L,P45A,T50R,Y237C" "0,0,0,0,0,0,0,0" 80213 11982 dbsnp6660 NP_653173.1 "A208T,A922T,C142F,D378G,E459K,I333V,K362R,Q404E,Q819R,R944H,T250A,T428M,V284L,V331I,V479F,V776I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23102 2270 dbsnp6666 NP_001230467.1 "A56V,M34V,P25H,Q106K,R30T,T67S,T81A" "0,0,0,0,0,0,0" 283710 14185 dbsnp6668 NP_001008225.1 "A802D,D1061Y,E1054A,E1144Q,E980K,G144E,H276Q,I1038T,I801T,I807V,K11N,K984R,L767M,M390V,N1323S,N312S,N752H,P257T,Q1327H,Q445H,S330G,S921L,T597I,T759A,V1188F,V311F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55075 959 dbsnp6674;dbsnp6675 NP_064595.2;NP_945119.1 "A524V,A572V,D462N,M163I,M744I,P767H,S797A,S809N" "0,0,0,0,0,0,0,0" 10509 2991 dbsnp6679 NP_001193727.1 P24L 0 5315 5086 dbsnp6685 NP_073752.5 "A1235V,A336V,G531V,I478M,K862T,L1353P,L74V,N872S,P144A,R1165Q,S492A,S819F,T443A,V241I,V774L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64864 889 dbsnp6698 NP_001013641.2 "A71S,K343E,R312H,R312L,T69A" "0,0,0,0,0" 123688 9147 dbsnp670 NP_036374.1 "A106T,E232K,H252Q,M16L,R120L,S157I,S157N" "0,0,0,0,0,0,0" 22943 11565 dbsnp6714 NP_955389.1 Y500C 0 9824 2017 dbsnp6716 NP_001159755.1 "A439V,L4P,R7Q" "0,0,0" 56963 7446 dbsnp6731 NP_001153585.1 "C25R,G61E,K39E,L11F,L24F,M28L,Q41R,S139L,T14I" "0,0,0,0,0,0,0,0,0" 123207 13598 dbsnp6734 NP_653198.2 R127C 0 123207 13598 dbsnp6735 NP_056104.2 "D575Y,F806V,G621D,M707I,V462M,V46I" "0,0,0,0,0,0" 23339 2740 dbsnp6741 NP_001136233.1 "A40E,N279Y,P92S,R75L,S232G" "0,0,0,0,0" 90417 10510 dbsnp6747 NP_001244953.1 "G152R,I832V,N244D,W200R" "0,0,0,0" 390598 2782 dbsnp6749 NP_001028200.1 A62T 0 23191 1210 dbsnp6751 NP_001001413.3 L368Q 0 283767 3612 dbsnp6764 NP_001153116.1 R285L 0 55784 2724 dbsnp6765 NP_997205.2 "A26T,A284S,A62V,R335G,S17I" "0,0,0,0,0" 145741 9227 dbsnp6766 NP_443187.1 "E646K,G241E,I688V,L581I,L650F,M229T,N691D,P564L,R224M,R36H,R464Q,R522W,R82W,V103L,V515L,V584M,V614M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116179 3976 dbsnp6771 NP_112574.3 "A214V,K184R,N448K,S308R,S437L" "0,0,0,0,0" 83440 6713 dbsnp6777 NP_976307.2 "D117G,E44D,F111C,I88N,I88T,L4Q,P189S,V115L" "0,0,0,0,0,0,0,0" 283807 11983 dbsnp6800 NP_000959.2 "E254D,L396V,P376A,R143C" "0,0,0,0" 6124 8006 dbsnp6801 NP_005715.1 "G68R,N127K,V170A,V170D" "0,0,0,0" 10099 11849 dbsnp6802 NP_944492.1 G68R 0 10099 11849 dbsnp6806 NP_001191379.1 I756T 0 9236 3165 dbsnp681 NP_037446.1 "A158S,A88T,E60K,F132L,G30R,I308T,V341I" "0,0,0,0,0,0,0" 29760 7471 dbsnp6811 NP_150247.2 A558V 0 5371 2702 dbsnp6812 NP_150243.2 R603C 0 5371 2702 dbsnp6815 NP_005917.2 "A124S,D272E,E137D,R126H,R294Q,S94R" "0,0,0,0,0,0" 4236 7790 dbsnp6816 NP_064539.1 "A102V,F8L,M167L,S226F" "0,0,0,0" 56851 12083 dbsnp6817 NP_005820.1 "K62R,N45S,Q191H" "0,0,0" 10239 8712 dbsnp6818 NP_001185987.1 "D135N,D217N,D75H,K263R,N246S,Q392H,W24L" "0,0,0,0,0,0,0" 100526783 8712 dbsnp6824 NP_001180418.1 "G1039V,I436V,I55V,K187Q,M304V,N1088S,P127A,P916A,T811P,V710L" "0,0,0,0,0,0,0,0,0,0" 9728 1709 dbsnp6827 NP_001244960.1 "A363D,D337A,F432V,H205Y,K373N,R504H,R507H,S25N,W490R,Y375F" "0,0,0,0,0,0,0,0,0,0" 619189 6349 dbsnp6835 NP_004635.2 "I390N,I390V,R1052W,R597C,S699R,V587I" "0,0,0,0,0,0" 8120 1731 dbsnp6836 NP_079093.2 "A653S,D395N,D773N,G293R,P610L,R343H,S903N,V706M,V889A" "0,0,0,0,0,0,0,0,0" 79875 2035 dbsnp6838;dbsnp6841;hgmd0613_2499 NP_996919.1;NP_996920.1 "A174V,G300S,H493D,I11M,L507R,M489V,N317S,P152S,S697T" "0,0,0,0,0,0,0,0,0" 6938 3427 dbsnp6845 NP_079232.3 "G168V,K155R,K401M,P457S,P46L,R608W" "0,0,0,0,0,0" 80021 4667 dbsnp6848 NP_055857.1 "D1238E,D625G,G1346R,G142C,G546E,K101T,M1228V,P219T,Q666K,R1011C,R1032W,T1195M,T817A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23060 965 dbsnp6850;dbsnp6851;dbsnp6852 NP_001171582.1;NP_620417.1;NP_001171583.1 "S35N,T226P" "0,0" 192683 12240 dbsnp6853 NP_003972.1 "H21D,L566R,M429I,Q129R,S144T,V85I,Y511C" "0,0,0,0,0,0,0" 9055 4909 dbsnp6855 NP_001243496.1 "G226D,R219H,V206E" "0,0,0" 1143 12312 dbsnp686 NP_001190173.1 "D597V,H575Y,M612T,P683H" "0,0,0,0" 57715 2939 dbsnp6861 NP_653166.2 "A182S,H247R,P19L,P249L,R133C,R174H,R463W,R478P,S313G,T213M" "0,0,0,0,0,0,0,0,0,0" 90527 6952 dbsnp6862 NP_612365.2 "F267S,R100H,S64L,V222A,W46S" "0,0,0,0,0" 90525 8093 dbsnp6868 NP_001185713.1 "N33S,N5K" "0,0" 145788 14395 dbsnp6873 NP_001018110.1 "A277V,D180N,E289D,E337G,E420K,H323R,L31I,L58P,P22S,Q254P,R159H,S229L,V367I,V89L,V89M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100820829 5847 dbsnp6875 NP_001018100.1 "A277V,D180N,D544N,E289D,E337G,E420K,E457K,H323R,H466Y,I454T,L31I,L58P,P22S,Q254P,R159H,R461C,S229L,V367I,V89L,V89M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 145781 5847 dbsnp6877 NP_964014.1 R157G 0 9154 13461 dbsnp689 NP_004201.3 "G270S,P50L,R177C,T466M" "0,0,0,0" 9148 5504 dbsnp6890 NP_057004.1 K21E 0 51065 14808 dbsnp6893 NP_061072.3 "D413G,E49Q,G196R,G198A,H255R,I217V,I352T,K236M,N399S,V83A" "0,0,0,0,0,0,0,0,0,0" 55466 8024 dbsnp6898 NP_000752.2 "D104N,D436N,F205V,F21L,F25C,G299S,G486D,G73R,I314V,I386F,I386V,L111F,L15F,R136H,R137Q,R138H,R281W,R356W,R431W,R457W,S18C,S298R,T395M,T438I,T83M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1544 6385 dbsnp690 NP_001193498.1 N1155S 0 114815 1351 dbsnp6902 NP_001026885.1 "D274Y,G765R,H514Y,I402T,I650L,K137R,R423H,R725W,S119T,S909R,T338A,T883I,V68L,V742M,V95L,Y340D,Y674H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64799 1992 dbsnp6907 NP_056347.1 "A202V,D362N,E14D,E275K,G153V,H284Y,I272T,K152E,P164S,R134C,R279C,S209L" "0,0,0,0,0,0,0,0,0,0,0,0" 81488 5847 dbsnp6909 NP_001138476.1 "E661A,Q403E" "0,0" 727832 3612 dbsnp6919 NP_940926.1 "E94K,F155S,K262R,L299W,L32F,R276S,S26F,T16N,V67L" "0,0,0,0,0,0,0,0,0" 374618 8782 dbsnp6923 NP_004742.1 "H260D,H260Q,H277R,I373M,L7F,M1I,N410S,T263S,V392I" "0,0,0,0,0,0,0,0,0" 9245 7805 dbsnp6927 NP_001123615.1 "D122N,Q162R" "0,0" 54866 12966 dbsnp6938 NP_001012660.1 "A23T,G269A,H19P,K286N,L295P,P205T,R142W,R333S,Y329H" "0,0,0,0,0,0,0,0,0" 196996 9566 dbsnp6942 NP_001135444.1 "M109V,V129M" "0,0" 89978 11543 dbsnp6944 NP_078989.1 "E277K,G91V,S126G,S254L,T283S" "0,0,0,0,0" 79768 10785 dbsnp6945 NP_689473.1 "A284S,D338N,E455A,N204S,P339L,Q512R,R208W,R368C,S436C" "0,0,0,0,0,0,0,0,0" 27079 5918 dbsnp6946 NP_872422.1 "D135N,D217N,D75H,W24L" "0,0,0,0" 348110 8712 dbsnp6949 NP_001007157.1 N602S 0 4916 2965 dbsnp6954 NP_689808.2 "A23V,D331H,R312H,R94K,T65I" "0,0,0,0,0" 161779 5342 dbsnp6957 NP_671717.1 "I270T,P157S,T101I" "0,0,0" 26263 8528 dbsnp6959;dbsnp6960;dbsnp6961 NP_079359.2;NP_001135915.1;NP_001135916.1 "G472D,I262V,I479V,L368M,L37V,S87P,V267M" "0,0,0,0,0,0,0" 80153 6516 dbsnp696 NP_115558.3 "E326K,L112I,N19S,P284L,R118H" "0,0,0,0,0" 23172 8281 dbsnp6963 NP_001138574.1 M1V 0 4088 7256 dbsnp6965 NP_057216.2 "I255M,P361S" "0,0" 50804 5136 dbsnp6966 NP_078887.2 "D375E,E379K,G488E,G943R,I635V,K139R,K412R,Q254H,S877A,T255I,V567I,Y193C" "0,0,0,0,0,0,0,0,0,0,0,0" 79664 2175 dbsnp6968;dbsnp6969 NP_597994.3;NP_001157741.1 T114S 0 5888 9913 dbsnp697 NP_004716.1 "M301V,S72R" "0,0" 9184 10201 dbsnp6976 NP_054825.2 "G128R,G540R,G590V,H472R,L248F,M153R,N418H,P598H,R253H,S229N,S377C,V684A,Y555C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54989 4161 dbsnp6981 NP_085097.3 "A21T,P378L,R420S,S122R,T71R" "0,0,0,0,0" 64506 5603 dbsnp6982 NP_006456.1 "A420T,A461T,G85D,G96R,P132A,P68R,R427Q,V107I,V168L,V516I" "0,0,0,0,0,0,0,0,0,0" 10620 5672 dbsnp6992 NP_060321.3 "G248E,K224Q,L191V,L72H,M17L,R81W" "0,0,0,0,0,0" 54956 10333 dbsnp6997 NP_001001674.1 "A272T,I135M,I216V,I45T,L145F,L184F,R21Q,R21W,R95Q,S149F" "0,0,0,0,0,0,0,0,0,0" 390649 9711 dbsnp6998 NP_113640.1 "K10N,R32H" "0,0" 83640 14426 dbsnp6999 NP_055506.1 "P1468L,S164N" "0,0" 9716 851 dbsnp7003 NP_001005326.1 "A117T,C141G,I101M,I69V,K80E,R54C,R54H,S238C" "0,0,0,0,0,0,0,0" 390648 9711 dbsnp7010 NP_005521.1 "D139E,E217D,M313T,R360C,R66Q" "0,0,0,0,0" 3419 9285 dbsnp7011 NP_001193725.1 T36S 0 5315 5086 dbsnp7017 NP_001177143.1 "A1247E,A1372V,D1236H,G1194A,H1324L,K274R,L1338P,R1051H,R1136H,V1215M" "0,0,0,0,0,0,0,0,0,0" 9677 931 dbsnp7018 NP_060670.1 "R81Q,T9I" "0,0" 10363 9743 dbsnp7019 NP_073621.2 K166R 0 64799 1992 dbsnp7020 NP_839946.1 "A214T,D124E,G106R,G157S,H182Q,L158Q,P69L,R137W,R203Q,R358C,R71H,R71S,T53I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 145864 9428 dbsnp7023 NP_001138807.1 "I345V,K226R,P25L,R69H,S238R" "0,0,0,0,0" 92912 8123 dbsnp7024 NP_055663.1 "A14T,A160V,A438T,G384W,I212T,I510V,K453E,R229W,S135R,T323A,T485K,V395M,Y488C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9899 3685 dbsnp7026 NP_060633.1 "A83V,D155N,E117A,E286Q,L237V,M278V,R105W,R196L,R196Q,R196W,V204L" "0,0,0,0,0,0,0,0,0,0,0" 55192 10786 dbsnp7029 NP_057297.2 "D100N,D132H,K177R,L102Q,N151S,N358D,P389S,R189C,R405C,R492C,W435C" "0,0,0,0,0,0,0,0,0,0,0" 9325 5397 dbsnp7030 NP_612640.1 "R44H,R44P,V37I" "0,0,0" 145957 14476 dbsnp7031 NP_775770.1 "N93S,P43T,P59L,R34Q,S33L" "0,0,0,0,0" 145946 14587 dbsnp7032 NP_689666.2 "A140E,C141R,G210D,H288R,Q32H,R69H,T94S,V194M" "0,0,0,0,0,0,0,0" 145942 11144 dbsnp7033 NP_001139140.1 "V34F,V34I" "0,0" 399697 14817 dbsnp7035 NP_003816.2 "A135T,I16M,M44T,R197H,S211R" "0,0,0,0,0" 8773 12723 dbsnp7036 NP_005688.2 "A61V,G324E,P74H,T70S" "0,0,0,0" 10066 9728 dbsnp7037 XP_003118702.1 "H159Y,P437L,P65L,R428Q" "0,0,0,0" - 4775 dbsnp7038 XP_001126912.1 "H172Y,P450L,P78L,R441Q" "0,0,0,0" - 4775 dbsnp704 NP_113641.2 "A72V,D238N,H95Q,L271V" "0,0,0,0" 83641 10738 dbsnp7041 NP_987090.2 "D98N,G321A,P304R,Q228R,T124M" "0,0,0,0,0" 373509 10052 dbsnp7042 NP_009211.1 "A57T,I196V,L210V,S165F,T35I" "0,0,0,0,0" 11339 12347 dbsnp7043 NP_775740.1 Q43P 0 92912 8123 dbsnp7044 NP_851422.1 "A60T,A76G,R67P,S61A,V568I" "0,0,0,0,0" 23015 4775 dbsnp7045 NP_570971.1 "D414N,G541R,G541S,N488K,P7L,R265Q,V158M,V481L" "0,0,0,0,0,0,0,0" 161725 2459 dbsnp7048 NP_001139115.1 "G44R,P3A,P53S" "0,0,0" 644844 831 dbsnp7049 NP_001186814.1 G77R 0 25764 14260 dbsnp7050 NP_001157937.1 "E254K,H251R,Q239H,Q253H,R244C,R244H" "0,0,0,0,0,0" 647042 7028 dbsnp7052 NP_001152752.1 "G212S,L275I,N210S,R227Q,T235I" "0,0,0,0,0" 161823 10204 dbsnp7057 NP_036274.3 "A121T,D269G,I277T,M129V,V155A,V304M" "0,0,0,0,0,0" 23582 9429 dbsnp7058 NP_919248.1 "A129T,A156T,A184T" "0,0,0" 348093 12564 dbsnp7059;dbsnp7060;dbsnp7061;dbsnp7062;dbsnp7063;dbsnp7064;dbsnp7065 NP_001035747.1;NP_001035748.1;NP_001035749.1;NP_001035750.1;NP_075056.3;NP_001035746.1;NP_001035745.1 "C173S,E339A,K27E,M143I,R70H,S219G" "0,0,0,0,0,0" - 7646 dbsnp7066 NP_001137546.1 "Q111L,R207C" "0,0" 55070 5675 dbsnp7068 NP_695003.1 "A259G,H140R,P152S,Q536H,R448H,R501H,S503T,T295A" "0,0,0,0,0,0,0,0" 257364 5507 dbsnp7069 NP_001035543.1 "A571T,D500H,L276F,S233F" "0,0,0,0" 54629 4900 dbsnp707 NP_036557.1 "A60T,M30V,N124D,R137H,R269Q,Y140C" "0,0,0,0,0,0" 6251 11329 dbsnp7071 NP_001034703.1 "H249Y,P121L,P221A,P281T,T170M,T75M" "0,0,0,0,0,0" 388135 11032 dbsnp7075 NP_006296.1 D193E 0 8125 11529 dbsnp7076 XP_002343398.1 "A519T,C168R,C458R,E434K,K141N,Q133E,Q133K,Q232E,R175H,R250W,S41T,S550T" "0,0,0,0,0,0,0,0,0,0,0,0" - 4775 dbsnp7077 XP_003118722.2 "A520T,C169R,C459R,E435K,K142N,Q134E,Q134K,Q233E,R176H,R251W,S41T,S551T" "0,0,0,0,0,0,0,0,0,0,0,0" - 4775 dbsnp7083 NP_000357.3 M284I 0 7168 11184 dbsnp7084 NP_001178252.1 P35A 0 26585 13294 dbsnp7087 NP_055969.1 "G36A,S197R" "0,0" 23184 12260 dbsnp7088;dbsnp7089 NP_000801.1;NP_001158509.1 S220F 0 2558 5782 dbsnp709 NP_001098016.1 "A11V,A173S,D254G,G12D,G207A,N175H,W266C" "0,0,0,0,0,0,0" 10556 10352 dbsnp7090;dbsnp7093 NP_001124398.1;NP_001165365.1 "G246D,I471V" "0,0" 4205 6278 dbsnp7095 NP_689663.2 "G220V,R10I" "0,0" 145773 9240 dbsnp7096 NP_001123920.1 "A105G,P83A,R24Q" "0,0,0" 643338 13462 dbsnp7097 NP_940928.2 "A259V,E50Q,G624S,L182R,M234L,M56V,P189A,R291H,S233G,V663M" "0,0,0,0,0,0,0,0,0,0" 374655 4439 dbsnp7098 NP_001011885.1 "F335L,M208V,V370A,V370D" "0,0,0,0" 53339 6218 dbsnp7099 NP_079514.1 "E416D,S399R" "0,0" 53339 6218 dbsnp7100 NP_077016.2 "A198V,K151R,M228L,V141A,Y102H" "0,0,0,0,0" 79094 11608 dbsnp7102 NP_116281.2 "E169K,R237K,R409Q,R503H,S465I,T181M,V405M" "0,0,0,0,0,0,0" 84978 5169 dbsnp7103 NP_001103973.1 K117Q 0 25963 5773 dbsnp7105 NP_001154835.1 "L21F,R334W,T194P,T194S,T380A" "0,0,0,0,0" 27020 8630 dbsnp7109 NP_006619.1 K31N 0 10776 14139 dbsnp7110;dbsnp7111;dbsnp7114;dbsnp7115;hgmd0613_723 NP_001008892.1;NP_001171818.1;NP_001008860.1;NP_112184.4 "A307G,A75T,G209R,K210R,M320V,Q344H" "0,0,0,0,0,0" 81614 7276 dbsnp7119 NP_002824.1 "K24N,N314I,R312H,T446A,W275R" "0,0,0,0,0" 5780 5233 dbsnp7120 NP_620147.1 "A298V,D299G,D64Y,E67D,R18G,R275G,S162T" "0,0,0,0,0,0,0" 123169 4416 dbsnp7121 NP_065180.1 "I163S,N106K,P174A" "0,0,0" 57184 13016 dbsnp7124 NP_004800.2 "G342R,P286L,R8Q,V350A" "0,0,0,0" 9399 8631 dbsnp7128 NP_003018.3 "E254D,Q301E,V270I" "0,0,0" 6457 9244 dbsnp713 NP_058432.1 "A579G,D259G,D532E,G354R,I406V,K667N,L393I,M635I,N332S,P601L,R571H,S102P,S104L,S618I,V591F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120 3819 dbsnp7130 NP_079074.2 "F142C,S152A" "0,0" 79856 13127 dbsnp7131 NP_689860.2 "D138A,M237T,P426S,P426T,P495S,R439I,R5Q,S475C,S493L,S496P" "0,0,0,0,0,0,0,0,0,0" 196951 6517 dbsnp7134 NP_060755.1 "L182V,T113I" "0,0" 55272 13295 dbsnp7139 NP_940929.1 "G114R,P109S" "0,0" 374659 13377 dbsnp7145 NP_060827.2 "D106N,E440K,R146K,R354Q,T170I" "0,0,0,0,0" 55323 6829 dbsnp7149 NP_683709.1 "D142N,G143R,G19R,I81V,M45V,R47H" "0,0,0,0,0,0" 89832 6116 dbsnp7151 NP_002192.2 "G104S,M102V,R136H,V15G" "0,0,0,0" 3669 10271 dbsnp7153 NP_001185946.1 "A556T,E91A,I637V,L100M,L217I,N348I,Q381H,R497C,R564H,R578Q" "0,0,0,0,0,0,0,0,0,0" 54839 4162 dbsnp7157;dbsnp7158 NP_982298.1;NP_060915.2 "L44V,R59K" "0,0" 55829 13192 dbsnp7159 NP_001003943.1 "P17L,R126W" "0,0" 90427 13296 dbsnp716 NP_055209.2 "D325N,I51T,P188L,P188Q" "0,0,0,0" 27069 9800 dbsnp7160 NP_057614.1 N98S 0 51762 12818 dbsnp7161 NP_036314.2 S309R 0 27023 10279 dbsnp7162 NP_055362.1 "A135T,E179G,E67G,I137T,M153I,P183A" "0,0,0,0,0,0" 29766 9468 dbsnp7165 NP_705841.2 "A510D,L255F,M354V,P500R,R118L" "0,0,0,0,0" 254531 6228 dbsnp7166 NP_009154.1 "A23V,T44A,V299I" "0,0,0" 11245 6397 dbsnp7167 NP_001004195.2 "E15G,G136S,K304N,Y280F,Y280S" "0,0,0,0,0" 26682 9711 dbsnp717 NP_064508.3 A381S 0 56889 5286 dbsnp7175;dbsnp7177 NP_852092.1;NP_057739.1 "R344H,R344L" "0,0" 2553 7628 dbsnp7178;hgmd0613_1499 NP_006374.1 "D150N,N118D" "0,0" 10518 13229 dbsnp7179 NP_001137408.1 "V53A,V79D" "0,0" 145853 13784 dbsnp718 NP_653262.1 "L100F,L24R,S71F,T124M,T74M" "0,0,0,0,0" 143379 12322 dbsnp7180 NP_006002.1 "A374T,E257K,G235C,G61S,I122T,R42T" "0,0,0,0,0,0" 8128 9100 dbsnp7181 XP_002343353.1 "N420S,R487H" "0,0" - 1801 dbsnp7182 NP_002211.1 "E368K,G162S,P313A" "0,0,0" 3706 2361 dbsnp7183 NP_849190.2 "L110S,M67V,N91T" "0,0,0" 123264 14283 dbsnp7184 NP_001015001.1 "R340H,R402K" "0,0" 548596 8187 dbsnp7185 NP_733775.1 "H421R,Q394R" "0,0" 4212 7066 dbsnp7188;dbsnp7189 NP_116296.1;NP_957717.1 "R114G,T311M" "0,0" 84993 8982 dbsnp7191 NP_066270.1 "K275R,M279T,R340C,R399H" "0,0,0,0" 1159 8187 dbsnp7192 NP_001034930.1 "D71N,G43R,G84R,R261S,R87W,V23E,V7G" "0,0,0,0,0,0,0" 89839 2017 dbsnp7193 NP_037441.2 "I193M,N97S" "0,0" 7782 7971 dbsnp7194 NP_002893.1 "A176T,L57I" "0,0" 5955 10483 dbsnp7195 NP_060298.2 "M195L,Q170H,S78G,S90A" "0,0,0,0" 54939 8117 dbsnp7197 NP_775882.2 "G3E,M1K" "0,0" 283742 6352 dbsnp7198 NP_001035894.1 "G3E,M1K" "0,0" - 10150 dbsnp7199 NP_665804.1 "A291V,F307Y,P9R" "0,0,0" 64843 9462 dbsnp720 NP_001229477.1 "R32Q,S9L" "0,0" 119504 14535 dbsnp7200 NP_005698.1 "A103D,A136V,A157T,Q429H,V83M" "0,0,0,0,0" 10081 6922 dbsnp7201 XP_934705.3 V44M 0 - 8117 dbsnp7202 NP_036520.1 A12T 0 26258 13509 dbsnp7206 NP_079510.1 "G160E,V238I" "0,0" 80349 10761 dbsnp7208 NP_694992.2 "R7L,S145I" "0,0" 255252 12151 dbsnp7209 NP_115607.1 "R48W,S22A" "0,0" 84191 13725 dbsnp7211 NP_001193988.1 R384Q 0 81556 6677 dbsnp7213 NP_000994.1 G45A 0 6176 14490 dbsnp7214 NP_001229846.1 S90A 0 54469 12794 dbsnp7223;dbsnp7224 NP_001096137.1;NP_002780.1 L236W 0 5685 11684 dbsnp7226 NP_001002844.1 S52G 0 54816 2188 dbsnp7227 NP_001025176.1 G27R 0 594855 13729 dbsnp7231;dbsnp7232 NP_005669.2;NP_073715.1 R43S 0 8926 14870 dbsnp7233 XP_001724798.1 "A383T,D544H,K152E,K327N,N382S,Q343R,R457C,S41C,V573M" "0,0,0,0,0,0,0,0,0" - 4775 dbsnp7234 XP_003118700.2 "A384T,D545H,K153E,K328N,N383S,Q344R,R458C,R55G,S41C,V574M" "0,0,0,0,0,0,0,0,0,0" - 4775 dbsnp7235 XP_001724435.1 "A473S,A504E,A519S,G528S,H580P,K567N,R472H,S523P,T462I,V372I" "0,0,0,0,0,0,0,0,0,0" - 4775 dbsnp7236 XP_001724434.3 "A474S,A505E,A520S,G529S,H581P,K568N,R473H,S524P,T463I,V373I" "0,0,0,0,0,0,0,0,0,0" - 4775 dbsnp7240 NP_932062.1 "S71L,S80L" "0,0" 55323 6829 dbsnp7241 NP_150250.2 S432R 0 5371 2702 dbsnp7244 NP_065711.1 G132A 0 57369 10380 dbsnp7245 NP_057388.1 R135Q 0 51187 13668 dbsnp7246 NP_001096128.1 R42C 0 196993 14155 dbsnp724;hgmd0613_1764 NP_056446.4 "A309S,A468V,A75V,G344R,T65P,V71L" "0,0,0,0,0,0" 26123 5057 dbsnp7251 NP_072088.1 I22V 0 59274 9370 dbsnp7252 NP_001157164.1 A380T 0 390595 8960 dbsnp7253 NP_001157876.1 V680I 0 653641 4133 dbsnp7255 NP_001018861.3 "A60T,R67P,V568I" "0,0,0" 440270 4775 dbsnp7256 XP_002343432.2 "C230R,C244R,D326N,M347L,P152S,P41S,Q239H,Q253H,R209H,R251H,R342Q" "0,0,0,0,0,0,0,0,0,0,0" - 7028 dbsnp7257 NP_001138696.1 "C177S,H143L,N676D,R149Q,R161C,V652D,V662E" "0,0,0,0,0,0,0" 653643 4133 dbsnp7258 XP_003118727.1 "D291N,M312L,P152S,P41S,Q218H,R209H,R216H,R307Q" "0,0,0,0,0,0,0,0" - 7028 dbsnp7267 NP_996896.1 "Q124K,S129N,T145M" "0,0,0" 6923 13702 dbsnp726;dbsnp727 NP_001129672.1;NP_653192.2 Q100K 0 119032 14576 dbsnp7275 NP_001165973.1 C27Y 0 6530 4822 dbsnp7276 NP_973729.1 "R429C,S412Y" "0,0" 6296 5321 dbsnp7285;dbsnp7286;dbsnp7287 NP_001229751.1;NP_060172.1;NP_001229750.1 M197I 0 54849 6442 dbsnp7293 NP_065190.2 "A208T,P175A,Q110E,Q110K,R297L,S133P" "0,0,0,0,0,0" 57215 10566 dbsnp7294;hgmd0613_559 NP_001009944.2 "A1227S,A1311T,A1398V,A1422T,A1516T,A1871T,A2222V,A2427G,A2427V,A2581V,A2988S,A3240T,A3391V,A3442V,A3467V,A3512V,A401V,A4059V,A4284T,A898V,D1162E,D1504N,D2059H,D2972N,D3451N,E1379G,E1811D,E2111K,E2548Q,E2966D,E3786Q,E3829Q,F3066L,G1788D,G1889S,G2814R,G2931S,G3560R,G4032V,H1093Y,H2638R,H3151Y,I3167F,I4045V,K3463E,L1106V,L2825F,L3376P,L4046V,L950P,M1092I,M1092T,N1010S,N1034I,N1034S,P1080H,P1127L,P1168S,P2597A,P2734T,P3412S,P839S,Q2182R,Q2735L,R1142W,R1285W,R1312Q,R1340W,R1351W,R1557P,R1698W,R1848C,R1865Q,R1920C,R1951Q,R1951W,R2163Q,R2166C,R2761C,R2765C,R3183Q,R3209C,R3348Q,R3435Q,R3439Q,R3712Q,R3833P,R3833Q,R4273C,R4276W,R869C,S1047L,S1352N,S1619F,S1684L,S3466L,S3779R,S843P,S903G,T1244I,T1424A,T1773I,T1861I,T2029M,T2250M,T2687M,T2708M,T2775M,T3510M,T3778N,T856M,T938M,V1011I,V1049M,V1339M,V1552I,V1655L,V1971M,V2054L,V2267M,V2707M,V2782M,V2822M,V2844I,V2905I,V3008M,V3179L,V3409L,V4146I,V866I,V866L,V882M,V909M,W1399R,W2882R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,1,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5310 65 dbsnp7298 NP_001188408.1 "A174V,A31T,A403T,A964T,D920E,G168A,G311E,G519A,L257S,L854F,P677R,P740S,Q1037K,R178Q,R193Q,R202Q,R630G,R630Q,R630W,R69H,R870L,R907Q,R967Q,T245M,V339L,V339M,V419M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100529144 1909 dbsnp7303 NP_002792.1 "L107I,L193P,R160H,V235M" "0,0,0,0" 5699 11327 dbsnp7307 NP_150296.3 "A557T,A865T,A944G,C968R,D107N,F954L,G533V,K509Q,K904N,L88I,N621K,P878L,Q442H,R176W,R204C,R204G,R455Q,R585Q,R608W,R899C,R936W,R966T,S535T,V117I,V124I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10595 2220 dbsnp7309 NP_872369.2 "C24F,H122P,H122Y,H158R,M75V,P174L,P214L,P214S,Q161E,R135W,S145F,S31G,T69I,V46I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283870 11702 dbsnp730;dbsnp731;hgmd0613_731 NP_001185729.1;NP_001185727.1 I334V 0 51008 8581 dbsnp7313 NP_061160.3 "A609V,A874G,D631N,E38K,E61A,E844K,G343R,G678R,G748A,P1071L,P428A,Q684R,Q788R,R174G,R222W,R466H,R666P,R897K,T265S,T365I,V785A,W202C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55911 1724 dbsnp7317 NP_001243649.1 "S16A,V107I,V142I" "0,0,0" 728276 13248 dbsnp7323 NP_001153685.1 "A27T,D38N,E192K,E239Q,E48K,E703K,E703Q,G23R,I26S,K160R,K203N,K768N,L407V,M804V,Q387K,R216W,R236L,R335G,R445P,R791H,S105C,S399F,T505K,T840M,V767A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83449 2020 dbsnp7326 NP_689551.2 "G32S,G81R,N80K,R145Q" "0,0,0,0" 653808 13588 dbsnp7330 NP_001230586.1 "A144G,P161L" "0,0" 283927 12162 dbsnp7333 NP_001009606.2 "A132V,A161T,G227R,L285V,R266C,V229I" "0,0,0,0,0,0" 64711 7473 dbsnp7334 NP_001129977.1 "P649A,Q433R,Q653R,R454W,R620C,R620H,R671H,S459R,S51N,T214M" "0,0,0,0,0,0,0,0,0,0" 283847 3816 dbsnp7344 XP_003118766.1 "P331L,P331R,Q29E,R266H,T288P,T288S,V299A,V382A" "0,0,0,0,0,0,0,0" - 1613 dbsnp7347;hgmd0613_2305 NP_653273.3 "A149D,D221N,F15Y,R79Q,S9F,T274M,V508A,V508M,Y806S" "0,0,0,0,0,0,0,0,0" 146183 1590 dbsnp7351 NP_478126.1 "L63V,P193T" "0,0" 118460 11442 dbsnp7355 NP_443124.3 "A1335D,A1527V,A1739V,A1929T,A2055T,A863V,A899V,C162S,C324Y,C868Y,D1632G,D585E,E1110G,E1181Q,E1260G,E221G,F1529V,F695L,G1081V,G1249R,G1251R,G1251W,G1268S,G129D,G132R,G1848R,G205R,G2259D,G785C,I1331V,I2092M,I506V,K416Q,K77N,L1036P,L1255F,L1271F,L173S,L2005P,L2096P,L2119I,L2353F,L2416F,L276F,L377H,L462V,L711P,L919M,M1042V,M1645V,M1867V,M2315I,N1330D,N1330Y,N1702K,N2221K,N407S,P1065R,P1163S,P1202L,P1776H,P1898S,P2046L,P301A,P512L,Q120L,Q1307R,Q1616R,Q1701H,Q2036R,Q2446E,Q250R,Q999H,R1037Q,R1402Q,R1421S,R1436Q,R1457Q,R2174C,R252W,R636H,R744W,R849H,R961Q,R998C,S1155L,S1326P,S142L,S1540I,S1665Y,S1774P,S1919N,S2139F,S2209T,S289R,S557T,T1048A,T1135N,T1406M,T141A,T1446N,T2097I,T2153M,T2349M,T492A,V1228L,V1396L,V1505M,V156I,V169M,V183I,V20A,V2146I,W73R,Y1699C,Y2049S,Y760C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114780 257 dbsnp7359 NP_001070248.1 D976N 0 114780 257 dbsnp7360 NP_055514.3 "A1367T,A1500G,A817P,A817T,A875V,A98V,D1514V,D1631N,D825E,E327G,E591V,F411L,G1287R,G1477D,G186S,G525R,G846V,G921A,I1251L,M611V,P1144L,P1466L,R102H,R102P,R1095C,R1249W,R1300H,R1365H,R1371H,R1439C,R1556Q,R1609W,R1771C,R292W,R665Q,R675W,R697Q,S1456A,S1667Y,S521G,S936L,T1788M,T566A,T607I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9726 538 dbsnp7361 NP_036599.3 "A312V,D151N,D88N,F288L,G163S,G170R,G25R,L282I,P147L,P175L,P176L,P24L,R168W,R193H,R28W,R58Q,S123N,S138F,T256I,T75K,V262M,V60M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25823 10375 dbsnp7377 NP_001164187.1 "A179T,A245T,A599D,A608T,A630V,A786P,A786T,D31V,G13S,G468V,G586S,G753S,H576R,K711R,K794R,L776M,N296S,P149L,P643L,P643R,P94S,Q11R,R14Q,R509H,R509L,R553C,R602Q,R625Q,R879H,S220G,T118M,T170A,T3S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9564 2522 dbsnp7378 NP_001164185.1 "E38D,M1L,P50L" "0,0,0" 9564 2522 dbsnp737;dbsnp738 NP_071346.1;NP_001128144.1 "N194S,R106K" "0,0" 63877 12277 dbsnp7381 NP_001013680.1 "A288D,A312S,A58T,A75V,A97V,D317G,E48Q,G216A,G2E,G353S,G36C,G408R,G432R,G463E,G94W,H214N,H53P,I439V,L166P,L289P,L328M,Q30H,R116Q,R135S,R215G,R229Q,R276K,R299H,R87W,S236N,S91L,V286I,V405M,Y311C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390667 7039 dbsnp7387;dbsnp7388 NP_001045.1;NP_803564.1 "A164V,D277H,E166G,E225Q,H226D,K201R,M1V,P100L,P10L,R103Q,R130H,R213H,S44N,V137G,V86A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6799 10972 dbsnp7393 NP_002696.3 "A1372S,A687G,A789G,A789S,A841V,D1694N,D1712N,D775H,E112K,E1747K,E193K,E327K,E571K,E703D,E936Q,G927R,H274Q,H962N,I1633V,K1051E,K1051M,K120Q,K427N,L1133H,L27V,L335M,L533M,L600V,L946M,M763T,N260T,N344K,N883K,P942L,Q367E,Q665R,Q744H,R1027Q,R113H,R1222Q,R1386W,R1391W,R1408H,R1418H,R1457Q,R1528C,R1594Q,R1639C,R1655Q,R1656C,R208Q,R251H,R251P,R587T,R689H,R710H,R720H,R737H,S1521G,S54T,S915I,S931L,T1397N,T1606S,T567M,T593S,T685R,Y1738C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5493 581 dbsnp7395 NP_001027005.1 N795T 0 5257 1740 dbsnp7396 NP_004595.2 "E174D,M144V,R157W" "0,0,0" 6810 10940 dbsnp74 XP_003119042.2 "A174T,A36S,G125D,K76N,L40R,R5L,S114F,S406R" "0,0,0,0,0,0,0,0" - 6828 dbsnp7401;dbsnp7402 NP_872423.3;NP_001098539.1 "D322N,D409G,G362R,G411D,G421D,I269V,I305V,I466V,I96V,K484E,N436Y,P404S,P537L,Q393E,R108P,R21H,R438Q,R447Q,R472W,T278A,W442R,Y540N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348158 5321 dbsnp7405 NP_001012780.1 "A108P,A118V,C433S,D453N,D472E,F142L,G374C,G482R,H186Y,H257Q,K471Q,L63P,M253V,P135R,P204L,P206A,P216L,P216Q,P430L,Q416R,R255L,R376Q,R427Q,R467C,R67Q,S412L,T329I,T404M,V332I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348180 6392 dbsnp741 NP_071760.2 "D127N,L541F,M410V,R491Q,R519C,R519S,R86H,S554G,T255A,V59L" "0,0,0,0,0,0,0,0,0,0" 64215 5785 dbsnp742 NP_660207.2 "E58Q,R124K,S76N" "0,0,0" 143187 12593 dbsnp7425 NP_001020604.1 "R119P,R139G,R139W" "0,0,0" 1728 11390 dbsnp743 NP_060457.4 "C608S,D12N" "0,0" 55680 4001 dbsnp7435 NP_071750.1 "D106A,D142N,E188A,I185F,R395Q,T35S,V309I" "0,0,0,0,0,0,0" 64174 6432 dbsnp7436 NP_001010845.1 "A462S,A60V,A93T,C271G,E78K,I305V,K552R,L10R,L131V,L270F,L64P,P329L,Q17H,R105C,R115Q,R178I,R358P,R438Q,R5Q,S222T,S476L,T366K,T366M,V335I,V7I,Y24H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 123876 5321 dbsnp7450 NP_009176.2 "A771T,A898V,E293Q,H869Q,I526M,K609R,L1063M,P636R,Q841H,R165W,R310H,R355Q,S368T,S469L,V198I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11273 1725 dbsnp7451 NP_680782.1 A1043V 0 11273 1725 dbsnp7460 NP_001185465.1 "D424E,G402E" "0,0" 4210 3349 dbsnp7461 NP_001138483.1 "A295T,D226Y,D486V,D49N,D640N,D660N,D860N,E752K,G728R,I265V,L21P,M39V,N72S,P330R,R630Q,R885W,S1048C,S1061N,V118F,V402M,V85L,V884I,W976S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342346 1582 dbsnp7464 NP_689977.2 "A108V,A7V,D212N,D318Y,E304G,G37V,I261T,I351M,K75T,P262S,P59L,S176L,T18P" "0,0,0,0,0,0,0,0,0,0,0,0,0" 254528 7188 dbsnp7484 NP_001244926.1 T9M 0 3566 3055 dbsnp7487;hgmd0613_703 NP_001136336.2 "A1312V,A334T,D2414N,D88G,E1494K,E1839K,F1338L,G1492D,G1614S,G1781S,G1821S,G253R,G279S,I1336T,I2265V,I83S,I83T,K2502R,L329V,L516I,M1270I,M2194I,N1585S,N1765K,N658K,P1398L,P152L,P1857S,P2510L,Q1466K,Q745E,Q749E,R1028C,R1211C,R1677W,R1876K,R1943Q,R2245Q,R2476C,R365W,R407G,R720H,R723C,S1439L,S2463L,T1510M,T1604A,T455M,V1310I,V2445M,V250A,V250I,V371G,V394L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9780 237 dbsnp7496 NP_004195.2 "G523S,R516S,R519Q,R524K,R539C,T543I,T543S" "0,0,0,0,0,0,0" 9091 3518 dbsnp7501 NP_005743.4 "A66P,I158V,L139P,N142S,Q206K,Q56H,R35S,V16L,W61C" "0,0,0,0,0,0,0,0,0" 10143 12839 dbsnp7505 NP_056474.2 "A313V,A7V,D101G,D319Y,D3Y,I371L,K478Q,L241F,N104S,N195S,N270S,S11F,S247R,T83I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26156 6847 dbsnp7508 NP_001135760.1 "D121N,D121Y,K110N,T52I" "0,0,0,0" 10328 12754 dbsnp7514 NP_001010990.1 "P132S,P300A,R329T,R50H" "0,0,0,0" - 8773 dbsnp7520 NP_004546.1 S1057G 0 4775 1799 dbsnp7523 NP_005670.3 "A215V,A591G,A649V,A655V,A802T,D251A,D784G,E810Q,G221E,G221R,G523R,G635S,H837R,L575M,P303L,P573L,P793L,P808S,P835H,R383W,R389C,R816H,S304F,S387L,S431L,T791M,V318M,V854I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9013 2778 dbsnp7533 NP_619515.1 "E255K,T267M" "0,0" 3038 11260 dbsnp7536 NP_055755.1 "A134P,D20Y,E19G,P60A,Q185H,R187W,R411W,S388R,T533S" "0,0,0,0,0,0,0,0,0" 22879 5888 dbsnp7539 NP_001171986.1 "A218G,D13H,P202L" "0,0,0" 8996 12556 dbsnp7557 NP_665899.1 "I28T,S4C" "0,0" 54715 7583 dbsnp7564;dbsnp7565;dbsnp7566 NP_001243111.1;NP_037407.4;NP_001243112.1 "A1193V,A1276T,A1733V,A1780T,A2010T,A2023P,A615G,A615V,A618T,A971V,D1016N,D1696E,E1413K,E1541G,F476Y,H1488Q,I1094M,K1464R,K1540R,K1554R,M2166R,P1638A,P1837S,P1860S,P2059H,R840Q,R92Q,S1878P,S537R,S747L,T1146M,T1326M,T1504S,T1913N,T297M,T432M,T680S,V1805I,V343I,V420M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29123 199 dbsnp756;hgmd0613_1872 NP_060587.8 "A768V,E988K,F1150L,G1191S,G555D,H22Q,I182V,I436V,L215P,M769V,R448Q,R448W,R756H,R956Q,V356I,V380I" "0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0" 55717 1348 dbsnp7579 NP_542394.2 "G272D,L303R" "0,0" 112479 4158 dbsnp7582 NP_055113.2 "A88T,Q258H,V209M,V235M" "0,0,0,0" 23475 10928 dbsnp7589 NP_067678.1 "A210V,F156S,G154E,G310S,L33F,R130G,R205W,R316W,S140P,T412I,T85S,V224M,V39M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 26048 7009 dbsnp7596 NP_001177087.1 "A157E,A161T,D473E,D566E,E290K,G528R,H373Q,K516R,L232Q,L589F,P174L,P246H,P407L,P563L,P95L,Q334H,R100Q,R205W,R450P,R450Q,R515W,V3A,V85M,Y194F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221223 5095 dbsnp7597 XP_001129515.1 "D68V,E347K,G328V,G63E,L330P,L335P,P262A,P313L,P351L,P43T,P99S,R124H,R14C,R322C,R322H,R47W,T205P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 8283 dbsnp761 NP_001078867.1 S70P 0 100038246 14382 dbsnp7613 NP_001230106.1 R4H 0 226 8215 dbsnp7618 NP_443106.1 R107L 0 112755 11118 dbsnp7619 NP_056998.4 "A609V,D488G,G798A,H433Q,L709V,M564I,Q932H,R153Q,T531P,T900S,V756L" "0,0,0,0,0,0,0,0,0,0,0" 51061 2160 dbsnp7620 NP_064708.1 "D279N,D48G,K288N,L108R,L209V,M283L,M283V,N252K,R102C,R276W,R27G,S215P,S215T" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57017 10451 dbsnp7630 NP_001070884.1 S2R 0 79583 9803 dbsnp7633 NP_079215.2 "A518V,A691T,C372S,D692H,E233Q,G486W,L281V,P617S,P635S,R425Q,R43L,S111L,S563F,T323I,T579S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80004 3813 dbsnp7635 NP_079410.4 "A646S,D2312E,D2810A,F783L,G2646A,G424R,K2727R,T2331A,T2760A,T380N" "0,0,0,0,0,0,0,0,0,0" 80205 160 dbsnp7636 NP_001018114.1 "D110E,D110N,I173L,L101P,R247C,Y175C" "0,0,0,0,0,0" 81889 11955 dbsnp764 NP_003963.1 "A181S,A416T,A707V,D1076V,G1566R,H1608R,M680V,P913T,R1692Q,R1732L,R1732Q,T910A,T912M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9044 526 dbsnp7648 NP_001182054.1 "C131Y,R151H" "0,0" 100506581 12152 dbsnp7649 NP_001182053.1 "A26S,A28V,G135D,H181Y,R132H,R141G,R66C" "0,0,0,0,0,0,0" 100506581 12152 dbsnp765 NP_056003.1 "A300V,I442M,R553H" "0,0,0" 23232 3410 dbsnp7657 NP_001185951.1 "A850V,D291G,F347I,K583N,L35F,M375I,P171L,Q512R,R656Q,T560M" "0,0,0,0,0,0,0,0,0,0" 9738 2057 dbsnp7663 NP_001139435.1 "A90T,E4G,G540D,I563T,L514F,R104Q,R104W,R1063Q,R246H,R311W,R522H,R940W,R955Q,T343M,V416M,Y630C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6560 1553 dbsnp7664 NP_001205.3 "G49A,G49S,G90V,I52V,P55S,Q33K,S57G,V44A,V48I,V56I,V64I" "0,0,0,0,0,0,0,0,0,0,0" 750 14322 dbsnp766;dbsnp767 NP_001182559.1;NP_001182557.1 "D155V,V114E" "0,0" 8028 1830 dbsnp7671 NP_077311.2 "A276S,A276T,C405Y,F318I,G177S,H8R,K215Q,P367H,P9R,R252Q,R32H,S14C" "0,0,0,0,0,0,0,0,0,0,0,0" 79190 7659 dbsnp7677 NP_060028.2 "A386V,A571G,D726G,F731L,G1008S,G489D,H610R,H619Y,I561T,L673F,M15T,M497I,M80I,P203S,R224Q,R317Q,R44Q,S33G,T2K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54768 28 dbsnp7679 NP_001177130.1 "A355T,D321G,L237R,P362L,R356C,R420H,S160R" "0,0,0,0,0,0,0" 283848 7245 dbsnp7688 NP_872629.1 P469R 0 9088 6692 dbsnp769 NP_001229417.1 R1879C 0 23053 496 dbsnp7692 XP_003118737.2 "A275V,A368T,A473S,A50G,D185Y,D518H,E330Q,G170R,G28R,G391S,H183Q,H192R,H477R,L465F,P294A,P456L,Q394R,R100Q,R132Q,R235C,R235L,R380Q,R382H,R419W,S203L,S481F,T337A,T349I,V223G,V345I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 5841 dbsnp770 NP_001004470.1 "E100K,K291N,P216S,Q294R,S158C,T47S,V156L" "0,0,0,0,0,0,0" 338596 8628 dbsnp7706 NP_001752.2 "A74T,E396D,F604I,G86E,R140W,R239Q,R406Q,R451C,R691Q,R751C,V318G,V705I,V714M,Y341F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 899 3312 dbsnp771 NP_055406.2 "D17V,R119C,V192L" "0,0,0" 30819 11194 dbsnp7711 NP_004904.2 "A562T,D377N,G109S,K73N,R392W,V465M" "0,0,0,0,0,0" 9605 4791 dbsnp7712 NP_001229686.1 "G158S,G16S,G80E,P256L,P324L,R25H,S83P,T234K,V272I,V77M,Y329C" "0,0,0,0,0,0,0,0,0,0,0" 146429 9955 dbsnp7713 NP_659476.2 "A111T,F154L,T168A,T168I" "0,0,0,0" 92806 13233 dbsnp7714 NP_001017967.2 "F236L,R253P,R253Q" "0,0,0" 91862 8388 dbsnp7715 NP_443090.2 "A342G,E60K,L258V,P268L,P268S,R91Q" "0,0,0,0,0,0" 91862 8388 dbsnp7717 NP_001123451.1 "E18D,L130P,T16A" "0,0,0" 100130958 12084 dbsnp7731 NP_064710.4 "A530T,A972T,C543R,D904N,G736D,I529V,I801T,K1028T,K1029Q,L725F,N711S,N892I,P693L,P842L,R1051S,R525Q,R571Q,R769W,R994C,T399M,T924M,T955M,V198I,V467M,Y1026H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57020 1889 dbsnp7732 NP_001229814.1 "A63G,D32N,G40R,N119H,P121L,R24L,R48G,R55W,S98N,T42M" "0,0,0,0,0,0,0,0,0,0" 100287036 14333 dbsnp7734 NP_071913.1 "D226N,E200G,E361D,G222V,G242S,G541E,P168A,R104Q,R59H,S111N,V29M" "0,0,0,0,0,0,0,0,0,0,0" 64386 5657 dbsnp7737 NP_001244101.1 "A133E,N107D,R11C,R15P,S338N,V123L" "0,0,0,0,0,0" 11269 6950 dbsnp7738 NP_071752.3 "D330N,G158S,L304V,P83L,R180H,V269I,V343M" "0,0,0,0,0,0,0" 64180 6432 dbsnp7743 NP_001137452.1 "A125V,A296G,A491T,D212N,E38K,L647P,Q653R,R578Q,R629C,R87Q,R87W,S264L" "0,0,0,0,0,0,0,0,0,0,0,0" 645811 4404 dbsnp7753 NP_074035.1 "P1933Q,P1933R" "0,0" 4629 432 dbsnp7757 NP_001207417.1 Q62R 0 1012 3522 dbsnp7759 NP_001207420.1 S169I 0 1012 3522 dbsnp7760 NP_001207421.1 L168V 0 1012 3522 dbsnp7762 NP_001094343.1 K388N 0 123775 8683 dbsnp7764 NP_001034592.1 "P406A,Q30R" "0,0" 339105 5799 dbsnp7765 NP_996560.1 P83L 0 79001 13655 dbsnp7767 NP_001188336.1 "A345V,A41T,C203R,C337R,D46N,G249R,I562T,K192T,N711D,P304L,Q25R,Q581H,R243C,R299H,T450A,V199L,V199M,V277I,Y701C,Y92C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 197320 3551 dbsnp7771 NP_003405.3 "A580T,D191G,E264K,F139S,K661E,L175H,L254H,R595W,R623Q,R707Q" "0,0,0,0,0,0,0,0,0,0" 10308 3674 dbsnp7772 NP_690851.2 "A76V,T104M" "0,0" 260429 11279 dbsnp7773 NP_006653.2 "A1498G,A1807V,A485V,A883G,A978V,E1902G,E327G,G2834R,G2839S,G2844A,H2239Y,H2971Y,I1061T,I1397V,L2919F,M2028V,N2618S,P1130S,P1535A,P1753A,P2788L,R2794C,R2828C,R3041Q,R503W,R858H,R954H,S1844C,S2524C,S520N,T1101K,T2374N,T2631S,T2784P,V212G,V2778G,V2993I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10847 120 dbsnp7775 NP_443722.2 "A168V,C150F,G137E,R111K,R31H,S83N,S86T,T135K" "0,0,0,0,0,0,0,0" - 2645 dbsnp7780 NP_996882.1 C1528G 0 23019 275 dbsnp7790 NP_631913.3 "A428V,A465V,A623S,C536F,E210D,G307R,G44E,G7V,I198T,K618E,Q6E,R174C,R178K,R316K,R543W,R607Q,T560I,T563I,V464L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 161931 4428 dbsnp7791;dbsnp7793;dbsnp7794 NP_001166141.1;NP_001166139.1;NP_078982.3 "E271K,G453R,S197G,V476G" "0,0,0,0" 79759 4676 dbsnp7799 NP_001155047.1 R5P 0 55282 3576 dbsnp78 NP_001182192.1 "D200N,D483N,D82N,E917D,F471L,G484R,H711R,N855T,P715L,Q978K,R1031H,R124W,R165L,R49Q,V191E,V511M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79955 1970 dbsnp7806 NP_078988.2 "I697T,K66Q,K737R,M342R,N148D,R362W,R369C,R455W,R58Q,S380A,T600M" "0,0,0,0,0,0,0,0,0,0,0" 79767 3425 dbsnp7814 NP_079056.2 "D93N,G96R,I50T,S27P,V58L" "0,0,0,0,0" 79838 2086 dbsnp7822 NP_932327.1 "A229T,A277P,E598K,G313R,R270H,R98Q,S300L,T153A,T441M" "0,0,0,0,0,0,0,0,0" 8824 4870 dbsnp7829 NP_001184154.1 "A180D,A79T,C110S,E172K,E84Q,G159E,G159R,K128E,T78K,V88A" "0,0,0,0,0,0,0,0,0,0" 146227 11729 dbsnp7830;dbsnp7831 NP_112203.2;NP_001185982.1 "A150T,E560D,G624D,H671N,P701H,P701R,P715L,T506A,V97I" "0,0,0,0,0,0,0,0,0" 81691 3417 dbsnp7835 NP_006031.2 R419L 0 9951 7473 dbsnp7836 NP_001243089.1 "M520I,P515S,R505Q,T530A,Y498C" "0,0,0,0,0" 80063 4252 dbsnp7839 NP_005942.1 "G17S,L39V,M1T,N4S,Q46P" "0,0,0,0,0" 4496 14888 dbsnp784 NP_060794.1 "A272P,F106I,F150L,P80S,R193H,T244I" "0,0,0,0,0,0" 55301 10447 dbsnp7853 NP_001138677.2 "F73S,M196T,Q199E,V160L" "0,0,0,0" 729993 8069 dbsnp7855 NP_001193959.1 "D110V,G92V,N99D,T150I" "0,0,0,0" 643802 4256 dbsnp7863 NP_001245343.1 "C160G,R211G,R227C,S158N" "0,0,0,0" 115584 4316 dbsnp7864 NP_079018.1 A705V 0 79798 2408 dbsnp7865 NP_835461.1 "D556E,E143D,H254Q,R296W,R314H,R320W,R889Q,S455F,S776G,T570A,T570M" "0,0,0,0,0,0,0,0,0,0,0" 90850 2592 dbsnp7872;dbsnp7873;dbsnp7874 NP_065157.1;NP_001121773.1;NP_001121774.1 "E66K,P94L,P94Q,R101Q,R14C,R14H,R98Q" "0,0,0,0,0,0,0" 57149 14386 dbsnp7875 NP_079021.3 "E355Q,F67S,G435S,L636Q,S54C,V652A" "0,0,0,0,0,0" 79801 4351 dbsnp7876 NP_001731.2 "A110T,A202V,E268K,G54V,P146L" "0,0,0,0,0" 794 11469 dbsnp7885;dbsnp7886 NP_057224.2;NP_057048.2 "E107Q,E73K" "0,0" 51673 12561 dbsnp7890 NP_001010878.1 "A117V,A45T,A80T,E255D,H223R,H98R,I207T,I247F,P270L,Q260R,S13F,S316L,S66N" "0,0,0,0,0,0,0,0,0,0,0,0,0" - 9523 dbsnp7898 NP_001193963.1 "A444T,A444V,L261F,M152I,P131S,R363H,R515W" "0,0,0,0,0,0,0" 9810 2101 dbsnp790 NP_478129.1 "F173S,G181S,I167N,P92T,S178F,S82T,T243I" "0,0,0,0,0,0,0" 6975 10173 dbsnp7905 NP_001034565.1 "D247E,K20N,M363T,N5H,Q9R,R344C,R369C,V163L,V371L" "0,0,0,0,0,0,0,0,0" 8131 5567 dbsnp7910 NP_002764.1 "G8E,S49G" "0,0" 5652 9842 dbsnp7912 NP_002374.2 "K399N,V431G" "0,0" 4150 6793 dbsnp7913 NP_110417.2 "A492S,A98G,A98T,E45D,K127R,R378L,V259I" "0,0,0,0,0,0,0" 81533 5003 dbsnp7914 NP_955399.1 "A463T,E478D,L457F" "0,0,0" 6687 3247 dbsnp7916 NP_003441.1 "P257R,R258Q,R305Q,S173T,S287I,S291I" "0,0,0,0,0,0" 7727 8444 dbsnp7917 NP_003952.1 "G380S,L71S,R67H,T92S" "0,0,0,0" - 7806 dbsnp7920 NP_005852.2 "K145Q,Q181H,R154C,S109N" "0,0,0,0" 10273 10805 dbsnp7922 NP_079463.2 "A123T,G13R,N337K,N376T,T405S,V78M" "0,0,0,0,0,0" 80262 8118 dbsnp7924 NP_001035374.2 "L75M,Q670H,S543P" "0,0,0" 64282 4092 dbsnp7927 NP_060900.2 "A214S,D192G,I445T,M484L,N491K,P551S,R320W,R363Q,R41H,R428C,R640W,T496P,Y560H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55815 4503 dbsnp7930 NP_570607.1 "I185K,K182E" "0,0" 51741 8298 dbsnp7932 NP_892003.2 "I454M,S363T,S386I" "0,0,0" 84148 7270 dbsnp7933 XP_003403510.1 "A22V,P120S,S197T" "0,0,0" - 12882 dbsnp7951 NP_065815.1 "A175T,G831S,I1053M,I573V,K38R,P1161L,P720L,P855L,R784Q,R932C,S706L,T417M,T779M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57524 936 dbsnp7952 NP_001171928.1 "G4R,G677S,P89L,S1617F,S699T,V862L" "0,0,0,0,0,0" 9665 598 dbsnp7955 NP_653201.1 "E156K,R116H,T3P,V81I" "0,0,0,0" 123811 13478 dbsnp7959 NP_066268.1 "G96D,V219A" "0,0" 2775 9547 dbsnp7960 NP_620073.2 "D328N,N257S" "0,0" 2775 9547 dbsnp7961 NP_001180453.1 "A1012V,A475D,A65P,A65T,L251I,Q114R,R1013H,R1017C,R1195W,R1211Q,R167Q,R900C,R949Q,S486N,T762M,V1157M,V311G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79567 1312 dbsnp7968 NP_115827.1 "A477V,A492T,D223E,D519N,E117D,L523V,P403L,P464Q,P580L,R244G,R305W,R402C,R402H,R546C,S508L,V198M,V88M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84501 3932 dbsnp7969 NP_005623.1 "A74V,C363R,E776A,G68S,G778S,L1059F,L427P,R309H,S706A,S706L,T157M,V356A,V525I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6650 1766 dbsnp797 NP_001243352.1 "G80A,H312Y,H358Y,I384T,K381R,L9F,Q296R" "0,0,0,0,0,0,0" 84986 6758 dbsnp7970 NP_065837.1 "A161T,A493G,A494T,E520K,G449R,G89S,P380A,R399S,R44Q,V341I,V423M" "0,0,0,0,0,0,0,0,0,0,0" 57546 6156 dbsnp7982 NP_001139660.1 "A179T,A325V,I398T,N274S,N274T,P530S,Q567P,S430L,S7L,V123M" "0,0,0,0,0,0,0,0,0,0" 27324 5466 dbsnp7986 NP_001230589.1 "A75T,C96G,E166G,H115Y,K217N,T97M" "0,0,0,0,0,0" 283927 12162 dbsnp7990 XP_002343471.1 "H615Q,L267P,L289V,P457T,P616A,P805Q,P805R,P878L,Q17E,R168H,R437H,R635H,S606I,T1001P,T1001S,T541P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 1613 dbsnp8021 NP_001105.1 "A480V,D439E,F128I,F806L,G1045R,G516R,K349M,P763L,R527C,R594H,R91H,T170M,T37M,T618M,V610I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 113 1747 dbsnp8022 NP_055835.2 "A1009T,A1028V,D634H,I204V,I316V,L1016S,M791V,N1242S,Q190H,R1116Q,R1302Q,R1312Q,R907Q,S1072C,S1220I,S533R,S919N,V1282I,Y534C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23035 623 dbsnp8032 NP_001135969.1 "G202V,S192Y" "0,0" 197259 7181 dbsnp8040 NP_001135763.2 "E277A,S482L" "0,0" 23295 4281 dbsnp8047 NP_115958.2 "G290C,G290R,R37H" "0,0,0" 84656 5792 dbsnp8048 NP_060273.1 "A204V,A336G,C430Y,E454Q,H302P,R149C,R187Q,R440W,R54K,T390M" "0,0,0,0,0,0,0,0,0,0" 54920 6794 dbsnp8053 NP_037395.2 "A539T,F49L,G280V,H174Y,K62N,K90N,M459T,Q598R,R254Q,R509H,R96Q,S153G,T253N,V396I,V458I,V623I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29117 4573 dbsnp8063 NP_443070.2 "D288G,F98C,K8R,R138Q,V238G,V79A" "0,0,0,0,0,0" 1731 6795 dbsnp8065 NP_001035250.1 "A189P,A189T" "0,0" 84326 12865 dbsnp8067 NP_036452.1 "R407H,V224M,W230C,Y185F" "0,0,0,0" 23659 8347 dbsnp8073 NP_054767.3 "A827T,E836D,G5E,G632S,H288Q,L1012V,L565P,L644F,N854S,P850T,Q590K,S398P,T720A,V816F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57496 1758 dbsnp8074 NP_066192.1 R116C 0 9080 10807 dbsnp8078 NP_061137.1 "A242D,C617Y,D194N,D342N,D607N,G393S,H639P,R218W,R336C,V131L,V506I,V507I" "0,0,0,0,0,0,0,0,0,0,0,0" 55512 4539 dbsnp8086 NP_075564.3 "A145T,A193V,E78Q,R152Q" "0,0,0,0" - 4273 dbsnp8089 NP_892026.1 "A463T,D320N,E273K,E356D,F225L,P310L,Q347R,R345Q,R345W,R438H,R55K,R94G,R94P,S13R,S285L,V457A,Y33C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29948 5687 dbsnp809 NP_002770.3 "A109T,G336S,G469V,H821N,K733R,L216M,L516F,P852S,R1014Q,R147Q,R147W,R379Q,R452Q,R48Q,R905Q,R939Q,R960Q,R960W,T138P,Y838C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5662 2009 dbsnp8090 NP_004774.1 "R876W,R898W" "0,0" 9344 1325 dbsnp8091 XP_001132754.4 E71K 0 728734 1613 dbsnp8092 NP_689671.2 "E119K,G348V,R212C,R351H,V193G" "0,0,0,0,0" 146540 8494 dbsnp8095 NP_057077.1 "A124V,A53V,A73T,F145L,R135W,V150M" "0,0,0,0,0,0" 51090 13330 dbsnp8096 NP_775773.2 "A172V,A628T,D570V,E203K,G74R,I320T,L849P,P331S,P707L,R555Q,R761K,S243F,S243Y,S510L,T775M,T823S,V107M,V625I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146547 2868 dbsnp8099 NP_852662.1 "I72V,V179I" "0,0" 146223 12261 dbsnp8107 NP_002752.1 "R17C,R34S" "0,0" 5619 14622 dbsnp8109 NP_001093254.2 "E10K,R672Q" "0,0" 54620 4130 dbsnp8114 NP_689552.2 "A141T,G113A,P178S,P211L,S350L" "0,0,0,0,0" 124044 8068 dbsnp812 NP_001171605.1 "P129L,R105C,S136Y" "0,0,0" 6387 14087 dbsnp8122 NP_777563.2 "H130Q,I242V,R131Q,R141C,R157H,R73W,V66I" "0,0,0,0,0,0,0" 146310 12015 dbsnp8123 NP_005344.2 "A1082P,A1116V,A13V,A358D,A751T,A986V,E1053Q,E853K,E869K,G43D,G562S,G706R,I303T,I925T,K918T,L410V,M924V,N391H,P987S,R206W,R282C,R425C,R519C,R682H,R859C,R953C,S561P,S905L,T109N,V1034I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3681 1518 dbsnp8131 NP_055576.2 "A156T,G262A,K306Q,Q87H,T318I,V175I" "0,0,0,0,0,0" 9798 9329 dbsnp8132 NP_001035805.1 "G268E,H425Q,R33Q" "0,0,0" 653319 7189 dbsnp8133 NP_001239005.1 "E111K,S150T" "0,0" 9351 9470 dbsnp8138 NP_001011880.2 "A137V,A170T,D307N,E275D,G11V,G413E,I196V,R10Q,R165Q,R233H,R241H,R352C,R438C,T148S,T151M,T393S,V406M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 497190 7491 dbsnp8141 NP_588609.1 "I418V,N435S" "0,0" 89970 5473 dbsnp8143 NP_065876.3 "A68V,G496A,I1183T,L406V,P1084S,P408L,R140H,R536W,R668Q,S850N,T267A" "0,0,0,0,0,0,0,0,0,0,0" 57585 1234 dbsnp8146;dbsnp8147;dbsnp8148 NP_001135971.1;NP_001135972.1;NP_612448.1 "A31T,C132F,S115N,T83S" "0,0,0,0" 114984 3921 dbsnp815 NP_620635.1 T367A 0 - 7329 dbsnp8150 NP_060580.2 "D118N,E74D,G290A,R115H,R70W,R90H,S114P" "0,0,0,0,0,0,0" 55715 10124 dbsnp8151 NP_078838.1 "G1011S,H410Y,R745C,Y732H" "0,0,0,0" 79613 1735 dbsnp8152 NP_001073993.1 R113H 0 646174 13331 dbsnp8156 NP_116194.1 "A608S,L654V,P526L,R255Q,R721S,S123L,T213N" "0,0,0,0,0,0,0" 84891 3833 dbsnp8157;dbsnp8158 NP_071921.1;NP_001012398.1 "A235T,K21N,T221A,V280I" "0,0,0,0" 64400 11055 dbsnp8159 NP_114154.1 "A102V,E218K,G288S,L286S,R106Q,R19T,R2M,T154M,V237M" "0,0,0,0,0,0,0,0,0" 83886 11102 dbsnp8162 NP_840101.1 "A101T,A262T,A281T,C239F,G151S,G291R,I102T,I68M,L55V,P149L,R229C,R282W,R99Q,S62A,V7M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 333929 11056 dbsnp8164 NP_065978.1 "A48V,M182I,M86K,N206S,R327Q,R332Q,S214A,S214P,V75A" "0,0,0,0,0,0,0,0,0" 57687 8183 dbsnp8166 NP_001098549.1 "F180L,G358S,R376C" "0,0,0" 64319 7406 dbsnp8169 NP_001139434.1 G56V 0 6560 1553 dbsnp8171 NP_001180317.1 "A641V,E576Q,G348A,G443S,H254P,R240Q,S391G,V132M" "0,0,0,0,0,0,0,0" 64718 4273 dbsnp8172 NP_001001410.1 "A217V,H141Q,R138Q,R199H,R276C,R309W,S264I" "0,0,0,0,0,0,0" 115939 10622 dbsnp8173 NP_001124385.1 "I11V,Q25E" "0,0" 124411 3674 dbsnp8174 NP_004585.1 V775L 0 6553 2633 dbsnp8175 NP_055507.1 "E255D,N104Y,R282W,R332C,V156I" "0,0,0,0,0" 9717 3889 dbsnp8176 NP_065901.1 "A290S,A575T,E309K,M280V,N294S,Q238R,V426I" "0,0,0,0,0,0,0" 57610 3797 dbsnp8177 NP_115516.1 "A224T,A309T,D140N,G62D,H100Y,N238D,R122Q,R166Q,R203C,R278H,V303I" "0,0,0,0,0,0,0,0,0,0,0" 84080 9779 dbsnp8178 NP_001243846.1 "A23V,P12S" "0,0" 100506581 12152 dbsnp8181 NP_057319.1 "A53T,D265Y,N268K,R148W,R314G,V147M,V182G,V22M" "0,0,0,0,0,0,0,0" 51704 8529 dbsnp8182 NP_060502.1 "E132K,H313R,M87V,R311W,R314H" "0,0,0,0,0" 55692 7448 dbsnp8184 NP_005938.1 "A16T,C19S,C21G,C41S" "0,0,0,0" 4490 14888 dbsnp8186 NP_776176.5 "A451T,P72L" "0,0" 283848 7245 dbsnp8187 NP_061896.1 "C639R,D237N,D546E,E19G,G422R,N490S,R376W,R551H,R572C,S573N" "0,0,0,0,0,0,0,0,0,0" 54496 4147 dbsnp8189 NP_001244299.1 "A291V,E221K,G198W,G209D,P168L,P318L,R192H,R350H,R352H,S204R,Y262S" "0,0,0,0,0,0,0,0,0,0,0" 197342 9007 dbsnp8190 NP_001139287.1 "A594P,D166N,D221G,E524A,G487R,K120E,P115R,Q339H,R198W,R260C,R476Q,V463L" "0,0,0,0,0,0,0,0,0,0,0,0" 51005 5213 dbsnp8191 NP_597715.2 "C287R,H114Y,Y211C,Y497C" "0,0,0,0" 146198 4736 dbsnp8192 NP_001014979.2 "E165G,E260Q,F184V,L106P,M12I,M229V,P62L,R300Q,R300W,V201M" "0,0,0,0,0,0,0,0,0,0" 90835 10121 dbsnp8194 NP_115672.2 "E100K,G572S,N584S,R247Q,T693S,V708I" "0,0,0,0,0,0" 84256 3921 dbsnp8196 NP_149989.2 "A314V,A355T,G383R,L411F,L539M,Q480E,R444Q,R523C" "0,0,0,0,0,0,0,0" 92922 5848 dbsnp8197 NP_055168.2 "D145N,E235K,H168Q,I162M,R228H" "0,0,0,0,0" 25837 11789 dbsnp8198 NP_077283.2 "N172S,R171H,S283L,S94L,T298M" "0,0,0,0,0" 79153 10452 dbsnp8199 NP_065858.1 "A173V,A423T,P38L,R505L,T11M,V125M" "0,0,0,0,0,0" 57567 5388 dbsnp8200 NP_077078.5 "G23V,G245D,R28Q,R53P,V29A,V76L" "0,0,0,0,0,0" 64499 11364 dbsnp8201 NP_722579.1 "A100T,A320V,G203R,G397A,K95N,L300V,M285V,M31L,M34T,N18T,P214A,P237S,R222H,R222L,R352H,R509C,R96G,S29R,S493L,S510L,S522T,T20A,V155I,V346L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221188 6169 dbsnp8202 NP_005241.1 "D105E,G272S,G284S,P127S,S41L" "0,0,0,0,0" 2300 9805 dbsnp8203 NP_001013860.1 "D857V,E1405K,I616V,P1409A,R684H,R866Q,R889W,V181M" "0,0,0,0,0,0,0,0" 146206 929 dbsnp8204 NP_001365.1 "D197A,E274K" "0,0" 1775 10896 dbsnp8205;dbsnp8206 NP_003974.3;NP_001070253.1 "E26D,I457T,K417R,L236F,R167H,S296T,V504A" "0,0,0,0,0,0,0" 9057 6398 dbsnp8209 NP_001005920.2 "F156Y,G158R,V278I" "0,0,0" 339123 11197 dbsnp8210 NP_001158051.1 "F70L,I119M,N124H" "0,0,0" 730094 13599 dbsnp8213 NP_001229763.1 "A257T,G235R,I51V,Q25E,Q25L,Q25R,R41Q,R41W,S22F,V117M,V349A" "0,0,0,0,0,0,0,0,0,0,0" 65009 8705 dbsnp8218 NP_653277.2 "F6L,G104D,I46M,L159M,M188T,N156T,N228S,R225C,T53M,V169E" "0,0,0,0,0,0,0,0,0,0" 146456 12130 dbsnp8219 NP_783316.2 "G40D,N4S,T27N" "0,0,0" 4493 14888 dbsnp8220 NP_997302.2 "A216D,F165L,N228S,R60Q,V219L,Y238S" "0,0,0,0,0,0" 390664 11263 dbsnp8221 NP_001415.1 "A151P,E121K,I51V,P132R,T43I,T60M,V24I,V83M" "0,0,0,0,0,0,0,0" 2013 13600 dbsnp8222;dbsnp8224 NP_001240723.1;NP_001240720.1 "F24V,I35T,V52I" "0,0,0" 440335 14776 dbsnp8226;hgmd0613_1422 NP_005872.2 "A61S,N255S,S356C" "0,0,0" 10295 8348 dbsnp8228 NP_001135.3 "E247K,R536H,T210I" "0,0,0" 267 4666 dbsnp8229 NP_005940.1 "A9S,C44R,K56N" "0,0,0" 4494 14888 dbsnp8230 NP_940845.1 "A17S,E129K,E51K,E89A,L26F,P108R,P149S,P20L,R62L,S81F" "0,0,0,0,0,0,0,0,0,0" 123904 13625 dbsnp8231 NP_001006611.1 "C20Y,L10V" "0,0" 6477 10592 dbsnp8232 NP_001730.1 "E250G,H205Q,N45K,N46K,P237L,T192M,T219A,V182M" "0,0,0,0,0,0,0,0" 763 10493 dbsnp8234 NP_660313.1 "G502S,P396S" "0,0" 146325 5539 dbsnp8237 NP_037373.2 "A755T,D696N,E517K,G468R,I102T,I759V,M1053V,P533L,R506Q,R818C,R871W,R905P,R905Q,R914Q,R939H,R972H,R991W,S178N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29109 1517 dbsnp8238 NP_001167012.1 "A162V,A343S,E27D,P317S,V415M" "0,0,0,0,0" 54971 6334 dbsnp824 NP_659447.1 "G50R,I124M,I252V,I28K,M46I,R226H,R229G" "0,0,0,0,0,0,0" 219670 11788 dbsnp8247 NP_055787.1 "A408G,A514T,G146R,L618M,P572T,Q257R,R361S,R544Q,S173C,S173F" "0,0,0,0,0,0,0,0,0,0" 22980 4313 dbsnp8249 NP_114428.1 "A139V,A96G,G145S,G507S,L464V,P335R,Q549R" "0,0,0,0,0,0,0" 83986 5813 dbsnp8250 NP_694993.2 L15P 0 255919 14054 dbsnp8252 NP_001073956.2 "E161K,G214D,Q61H,R244K,V205M" "0,0,0,0,0" 390748 11312 dbsnp8253 NP_115706.1 "D99E,D99H,R221C" "0,0,0" 84290 11517 dbsnp8255 NP_001166137.1 "A38T,T149M,Y13F" "0,0,0" 57799 11261 dbsnp8260 NP_005322.1 "A80V,A83V,G52A,P115A,P51L" "0,0,0,0,0" 3049 14042 dbsnp8261 NP_665872.2 "A190P,E15Q,K141R,M387R,Q407R" "0,0,0,0,0" 257629 8243 dbsnp8262 NP_689555.2 "A453T,G57E,G57V,R108Q,S207P,S245G,S321T,S85L" "0,0,0,0,0,0,0,0" 124359 6551 dbsnp8263 NP_612392.1 "A577V,A633P,D485G,G507D,L155I,M605L,R308H,S309T" "0,0,0,0,0,0,0,0" 92154 3643 dbsnp8264 NP_065715.1 "A114V,A173V,G262R,K151N,P283L,R154W,R190Q,R79C,R79L,R88Q,S139N,S212G" "0,0,0,0,0,0,0,0,0,0,0,0" 26063 11057 dbsnp8265 NP_115647.2 "L156F,R29G,V339I" "0,0,0" 84231 4371 dbsnp8266 NP_689940.3 "A12V,D82E,E244K,E53D,P16L" "0,0,0,0,0" 221184 5873 dbsnp8267 NP_001014989.2 R32Q 0 27040 11512 dbsnp8268 NP_001493.2 "A137T,G91S,I293F,P158T,P472S,P72S,R31Q,V376M,V429M,W521L" "0,0,0,0,0,0,0,0,0,0" 2813 4691 dbsnp8273 NP_859069.2 "G114V,G13R,G43D" "0,0,0" 253982 8804 dbsnp8274 NP_055976.1 "E199K,Q197K,R125C" "0,0,0" 23204 12904 dbsnp8275 NP_055144.3 "A1071T,A480V,E197K,E652K,I572M,K63R,P688A,S275G,S918L,V477M" "0,0,0,0,0,0,0,0,0,0" 23644 981 dbsnp8278 NP_001189438.1 "R94G,R94K" "0,0" 100529251 11177 dbsnp8281 NP_444514.1 "A265V,D44N,G149S,G499R,G517S,P24S,P30L,P500L,R508H,S223T,S28N,S54I,T481M,V113M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117166 5469 dbsnp8284;dbsnp8285 NP_001136249.1;NP_001136250.1 T184M 0 80270 9210 dbsnp8288 NP_149985.2 "D419H,E349D,G456R,I395L,R421T,S540N,T544A" "0,0,0,0,0,0,0" 91151 5861 dbsnp8290 NP_005787.1 "Q28L,Q28P" "0,0" 10204 14300 dbsnp8291;dbsnp8292 NP_060138.1;NP_001137451.1 "A249V,M193V,P213L,R70C,R70S,S291F,T191I,T32M" "0,0,0,0,0,0,0,0" 54820 9797 dbsnp8293 NP_001138676.2 "A232G,P243S" "0,0" 729993 8069 dbsnp8296 NP_005000.1 "D128N,R161G,R161W,R64Q,S129L,V57M" "0,0,0,0,0,0" 4833 13234 dbsnp8299;dbsnp8302 NP_060000.1;NP_001188483.1 "I181T,R203C,T237M,T23M" "0,0,0,0" 55565 8349 dbsnp8304 NP_078847.1 "G83S,K132N,V92M" "0,0,0" 79622 14218 dbsnp8305 NP_001186672.1 P84L 0 84516 13332 dbsnp8307 NP_001167.2 "A50G,M166V,P182L,R60W,T208A,T208M" "0,0,0,0,0,0" 398 12444 dbsnp8310;dbsnp8312;dbsnp8313;dbsnp8315 NP_001012650.1;NP_001012649.1;NP_004212.4;NP_001012736.1 "D49N,E23G,I22L,P184S,P67L,Q185H,R24G,R36C,R36H,V138L,V6I,Y26C" "0,0,0,0,0,0,0,0,0,0,0,0" 9235 12253 dbsnp8316;dbsnp8317;dbsnp8318 NP_001135790.1;NP_001135789.1;NP_060323.1 I119M 0 54957 13939 dbsnp8319 NP_057293.1 "D129N,D40G,H33Y,K68R,V73I,Y16H" "0,0,0,0,0,0" 51693 14090 dbsnp8320 NP_008858.1 R248Q 0 6483 9667 dbsnp8321 NP_001139017.1 "A119V,I130T,R139Q" "0,0,0" 162083 13842 dbsnp8322 NP_612456.1 "L433I,P95S,T452K" "0,0,0" 115509 6678 dbsnp8323 NP_002802.2 "H196R,I222V" "0,0" 5713 10303 dbsnp8324;dbsnp8325 NP_001128127.1;NP_004211.1 "A455T,E233D,E31Q,P156L,R132Q" "0,0,0,0,0" 7760 7423 dbsnp8326 NP_149110.1 "A188V,A382T,C244Y,P300L,R135Q,T217I" "0,0,0,0,0,0" 85407 7209 dbsnp8327 NP_001103233.1 "H162Y,H301Q,P263L,R293C" "0,0,0,0" 146395 10122 dbsnp833 NP_853549.1 "H26R,K282R,S226L,T186P,V42L" "0,0,0,0,0" 1390 9383 dbsnp8330 NP_001135938.1 "A423V,D322Y,E300Q,K180R,L22P,P343H,Q40K" "0,0,0,0,0,0,0" 84706 6245 dbsnp8332;hgmd0613_2062 NP_077315.2 "C110Y,N219H,N219S,R115H,R165Q,R278C,S304T,T161M" "0,0,0,0,0,0,0,0" 79228 9886 dbsnp8333 NP_079092.2 "A20S,R108Q" "0,0" 79874 5568 dbsnp8335;hgmd0613_1419 NP_005844.4 P236L 0 10265 6953 dbsnp8336 NP_001008275.2 "A230V,R169W,R192C,V165A" "0,0,0,0" 493829 7067 dbsnp8337 NP_001092284.1 "I322F,V210M" "0,0" 6345 7152 dbsnp8338 NP_001129981.1 "M1V,Q96K,R133Q,V178M" "0,0,0,0" 283933 9718 dbsnp8339 NP_710155.2 "E23Q,E272A,E300K,Q101R,T355S" "0,0,0,0,0" 162239 8445 dbsnp8340 XP_001719352.3 "A210T,L36F,R175Q,S245N,S301F,T115S" "0,0,0,0,0,0" - 10484 dbsnp8342 NP_005943.1 E23Q 0 4501 14888 dbsnp8343 NP_001076783.1 "A222V,E17A,L224R,R231P" "0,0,0,0" 5119 12131 dbsnp8344 NP_001035830.1 "G287R,N208T,Q293E" "0,0,0" 283871 10381 dbsnp8346 NP_005173.1 Y22F 0 766 10493 dbsnp8347 NP_660297.1 "G7S,I19T,M82I,Y78C" "0,0,0,0" 124491 14032 dbsnp8348 NP_001002911.1 "F231L,M295V,R244H,T138M,T145S,T223K,T239A" "0,0,0,0,0,0,0" 124274 9593 dbsnp8349 NP_001442.2 "G360S,N159S" "0,0" 2294 7700 dbsnp8350 NP_079007.2 "A261V,A341T,I505L,L151V" "0,0,0,0" 79786 4962 dbsnp8351 NP_085056.2 S2F 0 80777 13925 dbsnp8353 NP_115543.3 "A504T,E802K,G279A,N606S,S110L,S305P,S784N,T285S,V227I,V394M,V85M" "0,0,0,0,0,0,0,0,0,0,0" 92017 3125 dbsnp8354 NP_001166114.1 A3T 0 7084 11579 dbsnp8359 XP_003403507.1 "G47W,L59I,R36C,S88R" "0,0,0,0" 197350 13314 dbsnp8360 NP_001184252.1 G109R 0 8479 5756 dbsnp8361 NP_775889.1 "A104S,L120F,P100L,P158H,P211A,R168W" "0,0,0,0,0,0" 283899 12041 dbsnp8362 NP_775890.2 "E437K,I91T,L100P,P114S,R429C,T148S,T151M" "0,0,0,0,0,0,0" 283971 7491 dbsnp8364 NP_116558.1 R106W 0 5432 11378 dbsnp8366 NP_056236.2 "A159V,A3V,D32N,I65N,M1V,R141W,R9H,V189I" "0,0,0,0,0,0,0,0" 25880 12680 dbsnp8367 NP_006132.1 "A236V,P167L,T476A" "0,0,0" 1783 6242 dbsnp8368 NP_060802.1 K186R 0 55308 6950 dbsnp8370 NP_001119601.1 "A86D,G157R,G53A,P92R,V8M" "0,0,0,0,0" 64785 11809 dbsnp8372 XP_001718089.4 "R170K,V179I" "0,0" - 10941 dbsnp8376 NP_115635.1 "A252T,A390T,A608V,E55K,F614S,H642Q,P385T,P560S,R410C" "0,0,0,0,0,0,0,0,0" 84219 3291 dbsnp8377 NP_689501.1 "P219L,R229W,V135L" "0,0,0" 93129 10990 dbsnp8379 NP_057608.2 "E137D,E158K,G246R,K250R,L164P,R116C,R204C,V255M,V278M" "0,0,0,0,0,0,0,0,0" 51760 7134 dbsnp838 NP_055678.2 "A16T,A33V,C470S,D230E,G206A,G206E,G30S,K153R,M491T,S474G,V489L,V83I" "0,0,0,0,0,0,0,0,0,0,0,0" 51363 5673 dbsnp8380 NP_060848.2 "L186Q,L186V,T148A" "0,0,0" 55336 9119 dbsnp8381 NP_612427.2 "R70H,R74Q" "0,0" 84331 13726 dbsnp8387 NP_149978.1 "M88V,S165F,S6Y" "0,0,0" 89927 12883 dbsnp8388 NP_001787.2 "R416H,R666C,R666H,S777R" "0,0,0,0" 1006 3205 dbsnp8389 NP_005196.1 "L12V,P71L,P73A" "0,0,0" 1339 14547 dbsnp8390 NP_776167.2 "L34W,V156M" "0,0" 255762 12884 dbsnp8391 NP_001135941.1 M11L 0 89927 12883 dbsnp8392 NP_849163.1 "A157T,D77N" "0,0" 115992 12187 dbsnp8393 NP_001229402.1 "A27T,A94S,G18V,L63P,W4G" "0,0,0,0,0" 388276 14316 dbsnp8395 NP_057179.1 "F185L,H166Y,L150S,T149I" "0,0,0,0" 51659 13267 dbsnp8398 XP_003118767.1 H167Y 0 100507607 1613 dbsnp8399 NP_036333.2 "E658V,M937T,N1037S,N1113I,S1201C,S1201G,S443R,T1186K" "0,0,0,0,0,0,0,0" 2734 1413 dbsnp8406 NP_006530.1 A161T 0 10368 10330 dbsnp8407 NP_004200.2 F117L 0 9143 12268 dbsnp8410 NP_037390.2 "D75Y,G37R,S58N" "0,0,0" 29108 13084 dbsnp8412 NP_115725.1 "K187N,K201E,K201T" "0,0,0" 84309 12724 dbsnp8414 NP_005323.1 "E28D,S13P" "0,0" 3050 14042 dbsnp8415 NP_057723.1 "A53T,G119R,V100I" "0,0,0" 51330 14264 dbsnp8417 NP_001180318.1 "A143V,E78Q" "0,0" 64718 4273 dbsnp8418 NP_001032202.1 "A265T,L253I" "0,0" 64718 4273 dbsnp841;dbsnp842 NP_001540.2;NP_001026853.1 "A177P,D394G,F191Y,I398T,L442R,N206D,S455N,V209I,V352L" "0,0,0,0,0,0,0,0,0" 3437 6845 dbsnp8421 NP_002759.2 K24Q 0 5119 12131 dbsnp8423 NP_849194.1 M69L 0 253980 10176 dbsnp8424 NP_005945.1 C67Y 0 4504 14888 dbsnp8425 NP_001793.1 "E14D,P156A,T351R" "0,0,0" 1039 7512 dbsnp8426;dbsnp8427 NP_653202.1;NP_853531.1 V142M 0 123920 13333 dbsnp8428 NP_653171.1 G143S 0 90861 13172 dbsnp8429 NP_660296.1 "Q162E,V3M" "0,0" 124402 13421 dbsnp8430 NP_055402.2 "D382N,P406S" "0,0" 30812 7660 dbsnp8431 NP_690865.1 "M1I,M78T" "0,0" 260434 13084 dbsnp8432 NP_079222.1 I141L 0 80011 11828 dbsnp8433 NP_057625.1 "I38M,L48V" "0,0" 51764 14893 dbsnp8436 NP_005871.1 R107Q 0 10294 8024 dbsnp8437 NP_004539.1 "P66R,R110M,V35L" "0,0,0" 4716 13510 dbsnp8438 NP_057109.3 Q79R 0 51108 10453 dbsnp8440 NP_036517.1 "D19N,G38R,G40R" "0,0,0" 26471 14647 dbsnp8441 NP_001035948.1 G38R 0 26471 14647 dbsnp8442 XP_003118746.1 "C311R,C334F,C93R,D83E,E268K,E333K,L312Q,R132C,R269C,T314N,T314S,Y272C" "0,0,0,0,0,0,0,0,0,0,0,0" - 1613 dbsnp8443 NP_689554.2 "A113T,R175Q" "0,0" 124222 11425 dbsnp8447 NP_077001.1 "G156R,R89W" "0,0" 79077 13547 dbsnp8448 NP_001243758.1 "M48I,T14M" "0,0" 100862671 14555 dbsnp8449 NP_076422.1 "P151S,P50T" "0,0" 65990 12241 dbsnp8452 NP_001003938.1 T34A 0 3042 14073 dbsnp8453 NP_694574.3 R814Q 0 9683 2634 dbsnp8454 NP_085132.1 "K272R,R175Q,R55Q,V673I" "0,0,0,0" 80790 3426 dbsnp8456 NP_001121895.1 L130P 0 255027 13063 dbsnp8459 NP_001185985.1 L17I 0 29965 12796 dbsnp8463 NP_002753.2 "H14P,S81C" "0,0" 5620 14622 dbsnp8464 NP_061865.1 V154M 0 54442 10370 dbsnp8465 NP_001072980.1 "L205F,P111L" "0,0" 780776 11348 dbsnp8466 NP_076947.1 "A128T,P220L,R22H,R77L" "0,0,0,0" 79006 11033 dbsnp8467 NP_004994.1 R66C 0 4706 13802 dbsnp8468 NP_071402.1 W213C 0 64063 10485 dbsnp8469 NP_057393.2 R313Q 0 51451 10053 dbsnp8471 NP_001184153.1 "G80D,H79Q" "0,0" 146227 11729 dbsnp8472 NP_001230332.1 R900Q 0 23274 1881 dbsnp8473 NP_004343.1 M161V 0 869 12864 dbsnp8475 NP_001171491.1 R69W 0 146227 11729 dbsnp8476 NP_113665.3 V30L 0 83719 13785 dbsnp8477 NP_001103129.1 I72T 0 146378 14219 dbsnp8481 NP_787096.2 R204W 0 283897 12459 dbsnp8482 NP_171608.2 A121T 0 84752 8549 dbsnp8485 NP_001070887.1 "D91H,E148A,R121T" "0,0,0" - 9803 dbsnp8486 NP_001123478.1 L352I 0 2935 4726 dbsnp8489 XP_003118740.1 "A220V,K333E,L313F" "0,0,0" - 1613 dbsnp8490 NP_001093131.1 K321R 0 728689 2533 dbsnp8491 NP_001004067.1 "E572K,I56V,V580M" "0,0,0" 408050 1238 dbsnp8492 NP_001129337.1 "A521P,C269R,L270V,L327V,P267L,R869L,T272N,T272S,T329N,T329S,V289L" "0,0,0,0,0,0,0,0,0,0,0" 100132247 1613 dbsnp8493 XP_003118749.1 "C93R,D83E,R132C" "0,0,0" - 11568 dbsnp8494 XP_003118750.1 "C97R,D87E,R136C" "0,0,0" - 11568 dbsnp8495 NP_789846.1 C24Y 0 4499 14888 dbsnp85 NP_001186867.1 "A189T,C155G,G149R,I325L,M206I,M234T,M235T" "0,0,0,0,0,0,0" 340900 9282 dbsnp8500 XP_003118743.1 "A220V,I257T" "0,0" - 1613 dbsnp8501 NP_076420.1 F46L 0 65988 13157 dbsnp8502 NP_788850.1 P76S 0 283948 14365 dbsnp8503 NP_113666.2 P27A 0 83723 11402 dbsnp8513 NP_001171528.1 "S32P,S49G" "0,0" 1636 1155 dbsnp8546 NP_680477.1 "G231R,R226L,R226W,R40W,S92C,T39S,V11A,V212M,V95I,V95L" "0,0,0,0,0,0,0,0,0,0" 10400 12209 dbsnp8551 NP_115732.2 "L13P,L173F,S138Y,V20G" "0,0,0,0" 84316 13493 dbsnp8566 NP_001153715.1 "A2E,H189R,H189Y,N103K,S149G" "0,0,0,0,0" 84268 12313 dbsnp8571 NP_005524.2 "I159T,L238F,M128V,N218K,Q125H,Q16E,R174Q,R18G,R193H,R71W" "0,0,0,0,0,0,0,0,0,0" 3430 11145 dbsnp8577 NP_932348.2 "A231V,A574T,A777T,D776N,E237Q,G828A,I437L,M833T,P550S,Q321R,Q810E,Q810K,R203W,R774G,R904G,S519G,T626M,V480M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284001 2518 dbsnp858 NP_006068.2 "A461T,C62Y,H354Y,K311E,K75R,R103C,R109G" "0,0,0,0,0,0,0" 10367 7043 dbsnp8581 NP_001137440.1 "M64L,N39S,P58L,Q116R,R35Q,T31I,V52M,W171R" "0,0,0,0,0,0,0,0" 390790 13379 dbsnp8582 NP_009231.2 V1475I 0 672 500 dbsnp8594 NP_037408.2 "A231T,A305T,A319T,E117K,L73V,M413V,N325S,S220L,T151M,T301M,Y265C" "0,0,0,0,0,0,0,0,0,0,0" 23729 7042 dbsnp8596 NP_001026851.2 "P380A,P384L" "0,0" 1497 8588 dbsnp8599 NP_473363.1 G195A 0 9570 12681 dbsnp8613 NP_003550.1 "F364L,G185S,R290Q,R301Q,V312G" "0,0,0,0,0" 8396 8134 dbsnp8618 NP_001164638.1 G1213A 0 23125 1309 dbsnp8623 NP_001177389.1 "I109S,I127T,M1V,P213T,Q107P,T183I,T64A" "0,0,0,0,0,0,0" 728318 11919 dbsnp8625 NP_001138620.1 "A60V,C258W,G335A,G335E,I154N,I154T,I360N,I395N,I395S,I395T,L213V,L287F,L287I,R299Q,R341L,T175S,V401D,V401G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1394 7695 dbsnp8633 NP_892010.2 "A30T,A34T" "0,0" 8877 7210 dbsnp8640 NP_149050.3 "D18V,L148V,P117S,S16G" "0,0,0,0" 100132476 12748 dbsnp8646 NP_149048.2 "C119Y,C84Y,R41C,R51K,S183T,V58M" "0,0,0,0,0,0" 653240 12748 dbsnp865 NP_057288.1 "A210T,D218N,G306D,G74E,N259S,R333W,T304M" "0,0,0,0,0,0,0" 2658 7968 dbsnp8651 NP_004101.2 "C208W,L206I" "0,0" 2232 6080 dbsnp8656 NP_001244941.1 "D92G,P68L" "0,0" 2232 6080 dbsnp8661 NP_060774.2 "G45S,I91V,L126V,R280Q,R70K,R7Q,V262I" "0,0,0,0,0,0,0" 55771 9430 dbsnp8663 NP_945193.1 "A119T,A688T,D607N,E415K,G127S,H2R,H644Y,P221L,Q137E,R361Q,T419M,V201G,V81I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 146664 3210 dbsnp8671 NP_114060.1 "C152R,C5Y,R142C,R62C,T28I,T34N" "0,0,0,0,0,0" 83755 12748 dbsnp8672 NP_775899.3 "A1101G,A1332V,A1466G,A2457V,A3166T,A3259V,A332V,A3921S,A4298P,A4298T,A4449E,A559V,C3256R,D1522Y,D3227N,D3422N,D3482N,D3667N,D4079E,D473N,D961E,E1294K,E2699K,E3043K,E3211V,E3253K,E347K,E3698K,E4169K,E4355K,F2668L,F2726L,F414S,F4163C,F4172L,F4314L,G1157R,G3490S,G657E,G791V,H3208Y,H3625Y,H3953R,H3953Y,I1311V,I2872M,I3514F,I3875V,I3983V,I792V,I839N,I963T,K2743R,K2926T,K3524N,L1553M,L2656F,L307I,L855V,M1130I,M1742I,M1986V,M2524I,M4218T,M527T,P1264S,P1430L,P1538L,P1547S,P1547T,P2408S,P3017S,P4130R,P535T,P943S,Q422R,Q624R,R1217T,R1220H,R1348C,R1724K,R2049W,R2237C,R2794Q,R3003T,R3319G,R3319T,R3942Q,R4101Q,R4104G,R4112Q,R4193L,R4285Q,R4395Q,R4395W,R4415C,R4432C,R449C,R459H,R488C,R488H,S1559R,S2286L,S2854L,S2896F,S800L,T1019N,T1511A,T1739M,T1782I,T2320M,T2334M,T233A,T2432M,T3015I,T4113M,T506M,T755M,V1540M,V1600L,V1600M,V1914M,V2708D,V2800L,V2934M,V3108I,V3168L,V3249I,V3320L,V3356I,V585M,V734I,V7I,W4345R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8632 52 dbsnp868 NP_001243307.1 "H185R,P284S,T139M" "0,0,0" 79892 4675 dbsnp8683 NP_060411.2 "A522T,C396R,C602Y,D601N,E297K,E87G,F356L,F444L,G226S,K322Q,M293V,N528K,N528S,Q420H,R163Q,R437H,R457S,R575C,S309N,T337I,T598M,V83M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55028 5032 dbsnp8686 NP_055668.2 "A443V,A457T" "0,0" 9905 1893 dbsnp8689 NP_705694.2 "R429C,R429H,R456C" "0,0,0" 3860 6208 dbsnp8697 NP_001005619.1 G1450S 0 3691 545 dbsnp8712;dbsnp8715 NP_001129176.1;NP_001129178.1 "P118L,R258G,S309Y" "0,0,0" 79777 9887 dbsnp8713;dbsnp8714 NP_078998.1;NP_001129177.1 R301W 0 79777 9887 dbsnp872 NP_113643.1 "G136R,P266H,S108L" "0,0,0" 83643 11489 dbsnp873 NP_849189.1 "D81N,G272R,I223V,M49L,P238L,R196Q,R41Q,T35A,V64M" "0,0,0,0,0,0,0,0,0" 118980 10277 dbsnp8743 NP_443167.4 "A209V,A238T,K249R,L8P,Q119R,R261Q,R261W,R263H,S213C,V13L,V180M" "0,0,0,0,0,0,0,0,0,0,0" 115024 9990 dbsnp875 NP_112233.2 "E213K,N135I,N300K,R262H,V121M" "0,0,0,0,0" 81855 10277 dbsnp8750 NP_002266.2 "E245K,E294K,E352K,E352Q,G15S,G32E,G84S,I160V,I420T,K158R,R164Q,R164W,R398W,S75R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3866 6208 dbsnp8751;dbsnp8752 NP_071342.2;NP_001094282.1 "A200V,E111K,E19K,F73Y,G21E,H192P,I142T,P107A,P211L,R22P" "0,0,0,0,0,0,0,0,0,0" 58191 11426 dbsnp8754 NP_001166175.1 "A575G,C576W,T588I" "0,0,0" 23163 3856 dbsnp8760 NP_597683.2 V298E 0 6871 7704 dbsnp8767 NP_079366.3 "A184T,A981T,A995S,A998V,E990K,F1076L,G444S,G704S,H200N,I489M,I505V,K1031I,K814N,K956R,N148S,N322S,P479L,P488H,P712A,P712T,Q806R,R1006C,R1006H,R1064Q,R1105W,R116Q,R157C,R199Q,R470Q,R708H,R775Q,R828C,R887P,S1023C,S158C,S158I,S725C,S992N,T130S,T653M,T680S,V257M,V271I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57602 1648 dbsnp877 NP_004953.1 "G95E,M349V,Q72H,S125L" "0,0,0,0" 2662 7044 dbsnp8771 NP_005985.3 "G571A,K148Q,M155T,R654Q,S609R" "0,0,0,0,0" 6909 3953 dbsnp8773 NP_055045.2 "A538T,D120N,E445V,N497D,Q403H,R417C,S418P,T270A,V474M" "0,0,0,0,0,0,0,0,0" 6730 4828 dbsnp8779 NP_064603.1 "K316N,T297M" "0,0" 56970 9567 dbsnp879 NP_036471.1 "G110S,G276S,I79T,Q93H,R129Q,R207H,T232A,T286M,V111M" "0,0,0,0,0,0,0,0,0" 23555 11010 dbsnp8790 NP_004131.3 "A1058T,A486S,A486T,A527T,C697Y,E1055K,H699Q,L633P,N35S,N689S,P977L,S420R,S985R,T1026I,T845S,T864K,V1029A,V185M,Y471C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3996 1845 dbsnp8798 NP_689678.1 "A258T,D217A,E292K,G173S,T174I" "0,0,0,0,0" 147011 9323 dbsnp8800 NP_001138424.1 "A1726T,A178T,A2163V,A382T,D410H,E1585K,E1979K,G1445S,G1756S,G229S,G276S,G701S,L1545V,N361K,N95S,P1059L,Q916R,R103Q,R1155G,R1172H,R133C,R1374H,R1668Q,R2128Q,R2152H,R289H,R547L,R809H,R83C,R929Q,R937Q,R941C,R954C,S1260G,S1430C,S259L,S411T,S780G,S816R,T1315M,T1511M,T1553M,T2113N,T526N,T783S,V1317M,V1894M,V603M,Y76H,Y935C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54549 337 dbsnp8804;hgmd0613_690 NP_001124491.1 "R430C,T426A,T426M" "0,0,0" 2670 7197 dbsnp8808 NP_004515.2 "G997R,P994R,Q1005E" "0,0,0" 3993 1845 dbsnp8809 NP_071739.2 "A250D,L264F,R91L,S35T" "0,0,0,0" 64149 8671 dbsnp881 NP_620167.1 "D148Y,R59C,V124D" "0,0,0" 143241 13419 dbsnp8813 NP_001229709.1 "E125D,P44Q" "0,0" 100506388 14301 dbsnp8815 NP_002975.1 "A21V,M12V,M26V,P20L,Q60R,S80T" "0,0,0,0,0,0" 6351 14738 dbsnp8817 NP_002513.2 "G277S,K400E,L303V,P388S,V177G" "0,0,0,0,0" 4884 7913 dbsnp8818 NP_003249.3 V106M 0 7083 12262 dbsnp8821 NP_115509.4 "A152V,A424T,A572V,A780V,A788T,A914V,D155V,D171N,E228D,E671K,E977K,G165S,G892E,I676V,L263V,L310P,L382V,L754Q,L890V,L921F,M322V,M38V,M516V,P505Q,P614L,P938T,R124C,R124H,R295Q,R296C,R2H,R359H,R372H,R702W,R725W,R777T,S173N,S947R,V855M,Y409C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84073 2167 dbsnp8825 NP_009077.2 "G410E,Q349R" "0,0" 7716 6286 dbsnp8827 NP_001074011.1 "A680V,C573S,G401R,G454V,G479R,L111V,L447V,P370S,S374L,V540M,V542I,W1078S" "0,0,0,0,0,0,0,0,0,0,0,0" 85302 1611 dbsnp883 NP_071362.1 "C384Y,D914N,F586Y,I1045N,L1005V,N535K,Q894K,W345L" "0,0,0,0,0,0,0,0" 26091 1866 dbsnp8851 NP_443120.2 "A62V,A715V,D159Y,E441K,E510Q,E750A,E832D,H61L,I777V,K340R,K494R,L844S,M1T,N139S,P449L,P595H,R767Q,S201R,S625P,T14M,T183I,T387I,T738S,T868M,V669I,W10R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114659 2358 dbsnp8853 NP_001015002.1 S350L 0 3993 1845 dbsnp8861 NP_001156333.1 "A187V,H21Y,P74L,S228A" "0,0,0,0" 1353 11351 dbsnp8862 NP_001156334.1 V223G 0 1353 11351 dbsnp8864 NP_072170.1 "A160T,E114G" "0,0" 1443 11791 dbsnp8873 NP_001159409.1 "A293P,A443S,C149Y,G216A,L441P,R117Q,R14H,R352H,R398C,R437C,S217P" "0,0,0,0,0,0,0,0,0,0,0" 10948 7667 dbsnp8874 NP_001180394.1 "A298V,D563E,D913E,F859L,F916L,G191C,G203R,G899R,G899W,H212R,I1084N,I1084S,I1084T,I317V,K104M,K104R,K104T,K372N,L552I,L703F,N225D,N225H,N225Y,N230D,N230H,N230Y,N905K,P1009L,P1009Q,P1009R,P429T,Q243K,Q99H,R247S,R433K,S227N,S375L,S609N,S718A,S718P,S718T,S85C,T1017I,T221I,T221N,T221S,V580I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284058 1695 dbsnp8877 NP_001006608.2 "F1141L,K1165N,L1454P,N1385K,S1121R,W1628R" "0,0,0,0,0,0" 474170 643 dbsnp8887 NP_072056.1 "L27I,R30P" "0,0" 2688 11791 dbsnp8893 NP_001124390.1 "A636V,D137N,D418N,E712D,G167R,G29A,L645M,L782Q,N839I,P224L,Q571P,R117Q,R193C,R237W,V685I,W20G,W20R,Y118C,Y284C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284076 2656 dbsnp8894 XP_003118796.1 "I50V,K125N,P104S,P115L,R33Q,S156G,W55C,W99R" "0,0,0,0,0,0,0,0" - 13786 dbsnp8896 NP_055721.3 "A380D,F592V,L602F,N684S,P685S,P85R,Q227E,S45P,S665F" "0,0,0,0,0,0,0,0,0" 22843 3488 dbsnp8903 NP_001012271.1 P76L 0 332 13626 dbsnp8913 NP_001139654.1 "A487G,C25S,C304W,C73R,L357V,P186S,P191L,P234S,P340R,P64L,R394H,R450H,R502C,S243C,S243G,S243R,S257T,T268M,V138F,V138I,V138L,V165M,V336I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100505753 6370 dbsnp892 NP_149984.1 "A11V,A41S,A62G,R118H,T95M" "0,0,0,0,0" 93377 14071 dbsnp8929 NP_000928.1 "N764K,R271C,R407H,S1717C,S1717T,S1719N" "0,0,0,0,0,0" 5430 442 dbsnp893 NP_056005.1 "G248A,I113V,T119A,V213M" "0,0,0,0" 23234 11708 dbsnp8930 NP_001005291.1 "A35T,G42D" "0,0" 6720 1492 dbsnp8938 NP_942131.1 F15L 0 31 273 dbsnp8943 NP_005492.1 "A310V,A719T,C1016Y,E915Q,G840S,I268F,L1006Q,L1011I,L1013M,L371F,P987R,Q610P,R1021Q,R1021W,R1037Q,R943G,S301L,T834M,V474M,V734M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3675 1840 dbsnp8945 NP_006215.1 H59Q 0 5306 11496 dbsnp895 NP_689523.1 "D109N,F120I,G96R,R137C,R137H,R139Q" "0,0,0,0,0,0" 83401 11490 dbsnp8958 NP_057512.1 "D284V,G221S,P238S,Q116R,R117Q,R44Q,T315A" "0,0,0,0,0,0,0" 51225 9281 dbsnp8963;hgmd0613_1251 NP_004646.3 "A684V,A728T,A758T,A761D,D810N,G546V,G571D,H747R,L662P,P245S,P50S,P525A,P562L,R357H,R650C,R68Q,S390G,S651L,S762N,V539M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8313 2938 dbsnp8964 NP_005928.2 "A1007V,A327T,A447S,D806E,E297D,L1067R,L667P,N897S,S190I" "0,0,0,0,0,0,0,0,0" 4302 1741 dbsnp898 NP_004632.1 "A654S,D715G,G409A,K233R,L10V,M667V,N664D,R713H,S366N,S432I,Y714C" "0,0,0,0,0,0,0,0,0,0,0" 8028 1830 dbsnp8980;hgmd0613_632 NP_001073893.1 "A386V,A609T,A782S,D937N,E1297D,E221D,P1314S,P203A,P642L,P724L,P83L,S308L,S433P,S444C,S444G,S909Y,T759I,T761S,V209L,V374I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23135 662 dbsnp8986 NP_663327.2 "A339V,A451T,A513V,A634V,D447N,E304K,E307K,E553D,G316E,G540S,G581S,G662V,K531T,P273L,P479L,P742L,R532K,R576W,R652Q,R726K,S525R,V735A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 3033 dbsnp8987 NP_663325.1 "P503L,P525L,R553C,S498L" "0,0,0,0" 8578 3033 dbsnp89;hgmd0613_1950 NP_065574.3 "A120T,A392T,A392V,A404E,D379H,D400N,G105A,G357R,G434S,I165T,L243F,L249V,L458F,P299L,P726L,R222P,R375W,R561Q,R628Q,R652Q,R741K,S237R,S464N,S714R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1103 3625 dbsnp900 NP_079291.2 "A638T,E365G,I670V,K140E" "0,0,0,0" 259217 4205 dbsnp9008 NP_001230271.1 "H964R,Q951R,R1024G" "0,0,0" 55036 1576 dbsnp901 NP_660357.2 "E71V,G62S,M32T,R86Q,T138R,V101A,V101M" "0,0,0,0,0,0,0" 221044 14123 dbsnp9019 NP_004850.1 "I293V,L228V,M1592V,P1446S,R1498H" "0,0,0,0,0" 1213 666 dbsnp902 NP_060363.2 "A688T,G690S,I501V,M465I,P26L,R169C,R24W,R373Q,R426C,R510H,R597W,R713C,R713H,R721Q,T437M,V222I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57715 2939 dbsnp9026 NP_001138585.2 "A41S,A56D,D255N,G23C,N266S,R112Q,R263Q,R269Q,R81Q,S116P,V192M,V49I" "0,0,0,0,0,0,0,0,0,0,0,0" 255275 10719 dbsnp9027 NP_055053.1 "A334T,A85V,D100G,G615R,N606S,P88S,Q411H" "0,0,0,0,0,0,0" 8844 2491 dbsnp9028 NP_001230402.1 "A15T,H187Y,P140L,P99R,R28K,R37C,S143Y,Y256C" "0,0,0,0,0,0,0,0" 27077 11769 dbsnp9029 NP_000616.3 "A559S,D1112N,G966S,I227M,K952R,L697P,M272L,N701S,P38R,R1009C,R1018S,R1086C,R221W,R452Q,R506Q,R506W,R750H,S124N,S124T,S608L,T63M,T747A,V1037L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4843 1543 dbsnp903 NP_001123918.2 "Q155E,S91T" "0,0" 100127889 13439 dbsnp904 NP_036597.1 "A571T,A610D,E285D,E766K,F751L,G366R,G622S,G629A,G683S,H242L,H778Q,K79I,L441F,M710T,P431L,P544L,Q882R,R331C,R333Q,R446H,S970Y,T495M,T595M,V167I,V390I,V88M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7093 2047 dbsnp9045 NP_055692.2 "I1468V,K1176R,Q1403R,Q1453P,R1581K" "0,0,0,0,0" 9931 457 dbsnp905 NP_055793.1 "A1177T,D510N,G32S,G952S,G99S,I498V,M323V,R328Q,R335H,S1172N,V611I" "0,0,0,0,0,0,0,0,0,0,0" 22986 1351 dbsnp9050 NP_001182719.1 "A373G,C67S,D251Y,G172R,M195I,M1V,Q394E,Q565K,R327C,S228L,S22N,S273N,T229S,W581L,Y383C,Y518S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100506736 4910 dbsnp9051 NP_001014985.2 "A67T,V152A,V49F" "0,0,0" 388323 11084 dbsnp9056 NP_001159430.1 "D250G,D288N,D60E,E122G,G285S,G304R,M1V,P311S,Q78R,R330C,S230F,S248L,S415C,T93M,V12L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55876 8264 dbsnp906;dbsnp907 NP_001171892.1;NP_775183.1 "A24P,A54G,A54V,A55V,C63Y,D28N,D28Y" "0,0,0,0,0,0,0" 53828 14033 dbsnp9071 NP_055799.2 "A1020T,A1042V,A240T,A590V,A608T,C948W,E358K,E661K,E739K,E914D,G386V,G88S,H238R,K200R,K581Q,K924R,L229P,L955P,P418L,P41S,P420S,P446S,Q588E,Q68R,R134W,R143W,R253W,R409C,R44C,R476C,R688C,R689Q,R706Q,R725M,S489I,S52N,S642G,S737L,T272A,T272P,T397A,T93M,V43I,V473A,V473G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22994 1773 dbsnp9073 NP_056177.3 "E14K,E16D,G230E,V246A" "0,0,0,0" 23587 10505 dbsnp9074 NP_981958.1 H263Q 0 23587 10505 dbsnp9088 NP_001138517.1 "C255Y,F299S,H429P,P466S,R145W,R302C,R353K,V13A,V322I" "0,0,0,0,0,0,0,0,0" 729288 6264 dbsnp9102 NP_001129970.1 "L51V,R79C" "0,0" 284106 14302 dbsnp9103 NP_001229371.1 R20G 0 2886 5203 dbsnp9104 NP_001191406.1 "A123V,C128S,H122Q,R56H,T130A,V73I" "0,0,0,0,0,0" 284040 13891 dbsnp9105 NP_777579.2 "A233P,P213R" "0,0" 201176 2666 dbsnp9106 NP_000972.1 "H75Q,K152E" "0,0" 6143 13064 dbsnp9109 NP_001159432.1 "P11L,P33A,Q31H,R100G" "0,0,0,0" 59344 2941 dbsnp9127 NP_653207.1 "G303R,L296Q,T331M" "0,0,0" 201163 5421 dbsnp9132 NP_775102.2 "A60G,D236G,E386Q,H481R,K513R,R174H,S553C,V288M" "0,0,0,0,0,0,0,0" 146923 4992 dbsnp9148 NP_722546.1 D290E 0 5831 10404 dbsnp915 NP_877572.1 R12H 0 1390 9383 dbsnp9162 NP_001136112.1 S1469G 0 57690 610 dbsnp9170 NP_742086.1 "E134G,G118E,N176S" "0,0,0" 407977 10151 dbsnp9184 NP_958836.1 "A270S,D321H,P81L,R47C" "0,0,0,0" 8522 7092 dbsnp9190 NP_001138372.1 "A157T,A204S,C169R" "0,0,0" 125170 7307 dbsnp920 NP_110386.2 "D135N,D163G,G132R,G209S,L70F" "0,0,0,0,0" 29982 11160 dbsnp9204 NP_817084.2 "A284T,A505V,A54G,C25Y,C9Y,D265N,E488K,E538K,F508L,G604R,I496V,K4R,L408F,P187H,P29L,R473C,R498Q,R589Q,R611Q,S357L,S367L,S58T,S616L,T441M,T503M,T66A,V369A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9001 4357 dbsnp9206 NP_001013694.4 "A281T,D208N,D220E,D298N,E127D,E210V,E290K,E320K,E340K,E360D,E56K,F255I,G7V,H414Y,I287T,K300E,K310E,K330E,P267T,P297L,P319S,P327T,P337T,P357T,P71L,T394M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 400566 7526 dbsnp9212 NP_775891.2 "I145V,P463L,R188Q,R243Q" "0,0,0,0" 284004 5343 dbsnp9227 NP_001136043.1 A103V 0 5892 9719 dbsnp9232 NP_689560.3 "D541V,D611N,E504D,H167D,I279V,K775T,M507I,M821I,N798S,R185Q,R255C,R521Q,T265N,T33I,T551A,T577R,V312I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124989 2223 dbsnp9237 NP_001036150.1 "S6C,T152A" "0,0" 284194 9517 dbsnp9239 NP_001041.1 "M282I,S250F,S27L,T353A,T354K" "0,0,0,0,0" 6752 9228 dbsnp9241 NP_114151.3 "A118S,A118T,G214R,P232L,R332H,V134A,Y139C" "0,0,0,0,0,0,0" 83882 9542 dbsnp9249 NP_001138405.1 K15N 0 146779 6848 dbsnp9257 NP_001139513.1 "A98V,C15W,N148T,P102H,R41H" "0,0,0,0,0" 100132386 12748 dbsnp926 NP_079224.1 "I359T,P162S,R148Q,V405L,Y172H" "0,0,0,0,0" 80013 7674 dbsnp9264 NP_001171921.1 S243L 0 84282 7907 dbsnp9267 NP_057602.2 "C227Y,E312D,E99K,G238A,R133Q,R211C,R211H,R53Q,S240F" "0,0,0,0,0,0,0,0,0" 51268 8805 dbsnp9271 NP_757344.2 R265C 0 84254 6312 dbsnp9276 NP_002894.1 "A200T,A95T,F159C,T134A" "0,0,0,0" 5957 12967 dbsnp9278 NP_835229.2 "A220P,E320K,F225Y,H259P,M163T,V238I,Y162S" "0,0,0,0,0,0,0" 283985 9668 dbsnp9279 NP_066005.2 "K1034M,P1036L" "0,0" 57674 22 dbsnp9281 NP_079524.2 "A236S,S875N,V858M" "0,0,0" 80725 1472 dbsnp9282 NP_065704.2 "A413T,D271G,K281T,N350S,R43H" "0,0,0,0,0" 57336 3511 dbsnp9287 NP_001230241.1 "A140V,A169T,G139A,N108S,R130H,R174Q,R73L,T9P,V60I" "0,0,0,0,0,0,0,0,0" 140776 3807 dbsnp929 NP_001244929.1 "G105R,M1I,R88W,S84F" "0,0,0,0" 100130539 14242 dbsnp9293 NP_056091.1 Y513C 0 23326 3964 dbsnp9299 NP_085133.1 "D201N,D33N,D380N,D779N,G306S,H192Y,I421T,M698V,P318L,Q130E,Q235R,R787Q,S170L,S598F,S690L,T681M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283987 3304 dbsnp9301 NP_073738.2 "A257T,E795K,H83R,I720V,K422R,K625R,N95D,P32L,P514L,Q104E,R234H,R326Q,R410W,R476W,R508Q,S362L,S499T,S757T,T125P,T549S,V344I,V596M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64847 3200 dbsnp9309 NP_001028227.1 "A68V,V36I" "0,0" 23746 8903 dbsnp9313 NP_787098.3 "D67E,E315K,E34Q,G299A,G299R,H223R,K107M,K131R,M281I,P292L,P314S,P42L,R179Q,S243W" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79701 10123 dbsnp9316 NP_001243711.1 "E326V,R2K,R373Q,R476Q,S97L,V208A,V208E,V29A" "0,0,0,0,0,0,0,0" 5414 6795 dbsnp932 NP_963891.1 G238D 0 783 4481 dbsnp9320 NP_001238817.1 "A198T,A579V,D530N,D99N,F108L,G624E,L252Q,M91I,P215L,P526L,R41W,R93C,S208T,S82F,V318M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79058 4621 dbsnp9323 NP_001032407.1 "A57V,D162H,D77E,E67D,G34S,K323R,P163L,Q235P,R42K,S321P,T55R,Y155H" "0,0,0,0,0,0,0,0,0,0,0,0" 147166 5623 dbsnp9326 NP_001230469.1 "A209T,A326T,A507V,C385F,D494G,E182G,E333G,E384K,G4W,H170P,L38F,N71D,P409R,R244S,R615W,T438M,W76R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100653515 4901 dbsnp9331 NP_689675.1 "A121V,A196T,A223V,I172T,Q63R,R101Q,V222M,V229M,V315L" "0,0,0,0,0,0,0,0,0" 146861 9941 dbsnp9332 NP_115984.3 "A201T,E412D,R753H" "0,0,0" 84687 3106 dbsnp9335 NP_003848.1 "A70S,A83T,E336A,G204R,G226S,H110Q,Q263H,S195R,S4L,V241L,W249L,Y160H,Y86C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8811 8859 dbsnp9339 NP_001186346.1 "A1484V,A899S,D688N,F36Y,G874E,L1374V,P228L,R1054Q,R1375K,S610F,T553A" "0,0,0,0,0,0,0,0,0,0,0" 57636 842 dbsnp9340 NP_004701.1 "A28S,A98T,E216K,F111L,N50S,Q219R,T127S,Y218S" "0,0,0,0,0,0,0,0" 9144 12268 dbsnp9344 NP_001177958.1 "C221Y,M1T,P184A,R196W,R231Q" "0,0,0,0,0" 92340 12210 dbsnp9349 NP_006604.1 D150E 0 10750 12583 dbsnp9358 NP_001138525.1 G827R 0 374786 818 dbsnp9360 NP_054705.1 "A176D,G173R" "0,0" 4222 11818 dbsnp9363 NP_006364.2 "G200D,P363A,V283I,V335M" "0,0,0,0" 10493 8734 dbsnp9369 NP_002270.1 "A248T,A270E,A270G,A270V,D214E,E361D,E85K,E85Q,I131M,L99V,P101A,P101S,Q223L,Q223P,Q223R,R152G,R152W,R240C,R329H,R329L,R329P,R348G,R348W,R395H,R395L,R395P,R66H,R66L,R66P,R91W,S316R,V279L,V345L,Y294D,Y294H,Y294N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3884 7606 dbsnp9374 NP_001192248.1 "A213V,A2V,D3N,N159T,S5P,T12M,V264I" "0,0,0,0,0,0,0" 64359 7868 dbsnp9375 NP_001159399.1 R11S 0 54903 5695 dbsnp9377 NP_006032.1 "E363K,G194R,I196V" "0,0,0" 9953 7473 dbsnp9383 NP_116036.1 "F194L,F194V,R197S" "0,0,0" 84733 6098 dbsnp9388;dbsnp9389;dbsnp9390;hgmd0613_2511 NP_998772.1;NP_001245324.1;NP_001245325.1 "A11P,A152V,A158V,H154P,P92L,Y120C" "0,0,0,1,0,0" 388389 12085 dbsnp9392 NP_056044.3 "A712V,I933M,V808I" "0,0,0" 23277 1150 dbsnp9394 NP_114174.1 "A179T,D322H,D322N,E10K,E355D,G300D,G302R,I348V,P227L,P458L,R248W,R456Q,V267L,V455A,Y229C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26502 6623 dbsnp9398 NP_683685.1 "D15N,G28S,P66S,R94Q,S3L,V135I" "0,0,0,0,0,0" 124995 11470 dbsnp94 NP_001136405.1 "D7N,P3L" "0,0" 1103 3625 dbsnp9400 NP_006452.3 "A1082V,A175V,C216W,E416Q,G123D,G57E,H814Y,I510T,M1129K,M1V,M493V,M955V,N1145T,P25S,P44L,Q789K,R229H,R360H,R453Q,R663Q,R832Q,T849M,V384M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10615 1437 dbsnp9405 NP_004636.1 "E121K,K134E,N213S,P203L,R164K,R352L,R419Q,S502G,T456I,V145I,V442M" "0,0,0,0,0,0,0,0,0,0,0" 8161 5474 dbsnp9406 NP_085053.1 K68R 0 80774 2234 dbsnp9411 NP_000978.1 "N43S,R26L" "0,0" 6154 14019 dbsnp9415 NP_001106795.2 "A46P,A46S,A46T" "0,0,0" 100134934 14366 dbsnp9417;dbsnp9418 NP_003241.2;NP_001177848.1 "D462E,I170V,V295I" "0,0,0" 7067 6849 dbsnp9420 NP_001243210.1 "A164T,E169K,Q6H,R82L" "0,0,0,0" 100861437 13017 dbsnp9421 NP_001035521.1 "E89K,E91Q,R96P,R96Q,R98G,Y72C" "0,0,0,0,0,0" 28958 14578 dbsnp9423;dbsnp9424 NP_001172006.1;NP_004300.1 "A2S,H189Y" "0,0" 396 12444 dbsnp9426 NP_001158890.1 "F225L,P20T" "0,0" 8402 10567 dbsnp9429 NP_005315.1 A22G 0 3021 14150 dbsnp9430 NP_001073935.1 "A163E,A301V,D117E,H348N,M18L" "0,0,0,0,0" 388419 7048 dbsnp9431 NP_001136094.1 "A27V,A394V,G188R,L172S,N130H,R202Q,R317C,R342S,R430C,R430H,R94L,V340G" "0,0,0,0,0,0,0,0,0,0,0,0" 84514 6137 dbsnp9433 NP_001136095.1 R463W 0 84514 6137 dbsnp9439 NP_037469.2 "D95N,I143V,P22L,V33L" "0,0,0,0" 29928 13107 dbsnp9440 NP_001002032.1 "G53V,P130S,P138T,R126Q" "0,0,0,0" 51155 13346 dbsnp9441 NP_001002033.1 "A90V,H59Y,P98H" "0,0,0" 51155 13346 dbsnp9443 NP_056399.1 "A36V,P118A,R101S" "0,0,0" 26073 9241 dbsnp945 NP_036552.1 "D334G,H398Y,K61N,L25V,M347V,N99D,Q66E" "0,0,0,0,0,0,0" 24138 6967 dbsnp9453 NP_848666.2 E56A 0 353149 5855 dbsnp9454 NP_116243.2 "D102Y,P352L" "0,0" 84940 6859 dbsnp9455 NP_036270.1 "A247S,A274V,A509D,D308G,D555N,D84N,E174K,G111E,G291D,I98T,L65W,M180V,N229T,R365C,R418P,R418Q,R469Q,V307G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26574 5690 dbsnp9457 NP_976226.1 "A356G,H164Y,M144K,R24W,R639C,S48G,S495N,S61R,T469S,V312M" "0,0,0,0,0,0,0,0,0,0" 4215 4514 dbsnp9458 XP_001715461.1 "A252T,P105L,S155C,S71F,T184A" "0,0,0,0,0" - 11790 dbsnp946 NP_001004297.2 "A255G,A318V,C115F,C48S,G113R,G225D,G251R,I226V,I95V,R140Q,R183H" "0,0,0,0,0,0,0,0,0,0,0" 79290 10202 dbsnp9464;dbsnp9465;dbsnp9466 NP_001076003.1;NP_001076002.1;NP_064563.1 "E2G,I16V,R86H" "0,0,0" 56934 10205 dbsnp9467 NP_001158724.1 "G16A,L10F,R90K" "0,0,0" 730755 14284 dbsnp947 NP_078977.2 "E203K,L170H,R134S,R270Q,S60T,V139G" "0,0,0,0,0,0" 79754 11309 dbsnp9471 NP_001177719.1 "A94T,G208R,G67R,R278Q,R44P,V229A" "0,0,0,0,0,0" 256223 11262 dbsnp9472 NP_055047.2 P20L 0 6844 14425 dbsnp9475 NP_004862.1 "A3T,M139T" "0,0" 9527 11920 dbsnp9477 NP_001070650.1 "P391L,T457M,V277F,V277I" "0,0,0,0" 25794 6386 dbsnp9479 NP_001124149.1 "P8S,S345Y" "0,0" 100170841 9008 dbsnp9483 NP_001107590.1 "A388V,E36A,K595N,M115V,R107G,R478H,T560M" "0,0,0,0,0,0,0" 55421 4918 dbsnp9485 NP_001071634.1 S201C 0 6426 11950 dbsnp9493 NP_001161796.1 S232L 0 146894 10091 dbsnp9495 NP_001140156.1 "A133T,P114S,R29W,V202A" "0,0,0,0" 643904 12536 dbsnp9496 NP_940877.2 "A468E,E429D,P129L,P226L,R162S,R67Q" "0,0,0,0,0,0" 284069 3053 dbsnp95 NP_001371.1 "E1553K,E293K,F297S,H853R,I1494M,I255F,M820V,R116Q,R506H,S1756L,V108M,Y155D" "0,0,0,0,0,0,0,0,0,0,0,0" 1793 511 dbsnp9503 NP_683684.2 R9K 0 125170 7307 dbsnp953 NP_079218.2 "E138K,E330D,E352K,G181R,G83V,I276T,I276V,I374V,I397T,I87M,N421T,P202H,R216Q,R400Q,T351I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80007 7675 dbsnp9537 NP_006302.2 "A2182T,D146V,D1944A,E1120D,G838A,H2252Y,L1406F,L915R,M2290I,P132Q,R1146W,R1229Q,R1415C,S789T,V50M,Y20S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9611 263 dbsnp9538 NP_068370.1 "A319V,K526Q,L498I,N344T,P236T,P338S,P402A" "0,0,0,0,0,0,0" 9572 4985 dbsnp9539 NP_001013861.1 "A520D,E193K,I202T,Q390L,S326T,V195M,V247I" "0,0,0,0,0,0,0" 23265 3748 dbsnp9546 NP_942583.1 S1158C 0 11276 1139 dbsnp9550 NP_002908.1 "A327T,H288Q,H288R,N152K,S128A" "0,0,0,0,0" 5986 8995 dbsnp9556 NP_001033793.2 "E330K,K10R,P438S,R119G,R286Q,S397L" "0,0,0,0,0,0" 284083 5547 dbsnp9557 NP_859076.3 "A36V,N344K" "0,0" 339175 8451 dbsnp9558 NP_072051.1 "F232L,P200S,W241R" "0,0,0" 2689 11791 dbsnp9559 NP_001121631.1 "A222V,A611T,E575D,I688V,L328I,L375R,N383S,S557N" "0,0,0,0,0,0,0,0" 55275 3025 dbsnp956 NP_055970.1 "A11T,C679F,K201R,P116L,P587L,P587R,S119L,S720L,T367M,T460S,V207M,V579A" "0,0,0,0,0,0,0,0,0,0,0,0" 23185 3721 dbsnp9568 NP_004844.1 "A153T,I227M,P234L,R118Q,R141Q,S109Y" "0,0,0,0,0,0" 9482 12211 dbsnp957 NP_000774.2 "C358R,R173S,V153M,V211L,W167L" "0,0,0,0,0" 1592 6717 dbsnp9570 NP_899233.1 M208I 0 40 5640 dbsnp9589 NP_777552.2 "A163V,G67V,M1V,R10G" "0,0,0,0" 124599 11096 dbsnp959 NP_872349.1 "A264V,A289E,A29V,E14A,E14G,E40K,I101T,I148F,P11L,T199S,V298L,V341M,V95M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 221078 7230 dbsnp9592 NP_002995.1 "A192T,H11P,L233R,P243L,Q14R,R178W,V191F,V99M,Y244D" "0,0,0,0,0,0,0,0,0" 6398 11956 dbsnp9593 NP_055649.4 "A1508T,E1384G,I1383M,I755V,L1002V,L1378P,L1454P,R776H,R785Q,T1441S,T167I,T741M" "0,0,0,0,0,0,0,0,0,0,0,0" 9884 643 dbsnp9595 NP_001012270.1 "A9S,G121R,R108W,S96L" "0,0,0,0" 332 13626 dbsnp9598 NP_858042.2 E72G 0 284018 14696 dbsnp9599 NP_112238.1 "C41S,P63S,P92S,R22H,S127P,S192F,S202F,T183I,V9L" "0,0,0,0,0,0,0,0,0" 81871 12748 dbsnp960 NP_001025125.2 "A135S,I95M,W154S" "0,0,0" 441549 13232 dbsnp9600 NP_060939.3 "A726V,D463N,E312D,F426L,I380M,I380T,L75F,Q80P,Q897H,R7H,S161F,S434R,S647C,T158I,T678I,V512M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55852 1607 dbsnp9601 NP_001028740.1 L588F 0 55288 4163 dbsnp9604 NP_001139785.1 "A9T,C505R,G349S,G387S,I322V,L220P,L533I,N152K,P633A,Q551H,R192Q,S569C,S73N,T248I,T323M,T356A,T52M,V395M,V446G,V679I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" - 2157 dbsnp9605 NP_001139784.1 "A105T,C601R,D76N,D897E,G445S,G483S,I418V,L316P,L55V,L629I,L809I,L873F,N248K,P729A,Q647H,R288Q,R44L,R803K,S169N,S665C,T148M,T344I,T419M,T452A,T931S,V491M,V542G,V775I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93649 2157 dbsnp961 NP_001137381.1 "A21T,Q90H,R58Q" "0,0,0" 729020 12363 dbsnp9618 NP_955371.2 "G116S,N40D,R265Q" "0,0,0" 374768 10677 dbsnp9619 NP_001167574.1 "A3T,G249S,H65L,I263L,I263V,L333F,P202S,R207C,R360Q,R59W,S173G,S196L,S196W,V74A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124923 8389 dbsnp962 NP_005470.2 P235R 0 10023 11297 dbsnp9620 NP_004450.3 "A1926S,A550V,D1132G,D1294G,D1431G,D160E,D728G,E1316K,E2608K,G70S,I1341T,I2161V,K1219R,L1286F,M1817I,P2655A,Q1264E,R1275S,S1224F,S202G,T1510N,T2000M,T2088A,T2251M,V1557A,V1775I,V1799I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2186 143 dbsnp9625 NP_002806.2 C202W 0 5717 8119 dbsnp963 NP_056050.1 "A285G,A417V,C222G,G486D,L228M" "0,0,0,0,0" 23283 4961 dbsnp9630 NP_663696.1 "E302K,G166D,I567M,K83R,L199S,L372V,L548F,M187I,P485L,R221Q,R511H,R555Q,R557W,R92L,S20N,S571T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80174 4973 dbsnp9631 NP_005559.2 "A388S,N53K,P139H" "0,0,0" 3975 8472 dbsnp9632 NP_001083.2 T32I 0 29 1226 dbsnp9635 NP_006813.1 "A38T,P186L,P263H,P263R,R85W,S220N,V136G" "0,0,0,0,0,0,0" 10966 11261 dbsnp9636 NP_036253.2 "G294S,M102V,R165G,T197M" "0,0,0,0" 23580 9524 dbsnp9637 NP_783865.1 "A181P,F52L,G189R,L27V,L38V,R147H,R187Q,T36M,V28L,V88I" "0,0,0,0,0,0,0,0,0,0" 326624 11789 dbsnp964 NP_997010.1 "E325K,F316S" "0,0" 196743 6457 dbsnp965 NP_036474.1 "A85T,D185G,G108A,M170I,P58R,S145P,T77K,V208I" "0,0,0,0,0,0,0,0" 25805 11709 dbsnp9652 NP_078861.1 "A154T,D46E,R130H,R171H,V193M" "0,0,0,0,0" 79637 13018 dbsnp9663 NP_777547.1 "E64A,H112R,R105Q,T132N" "0,0,0,0" 90410 13956 dbsnp9671 NP_001136125.1 "D158H,D89N,F64L,R58M,S69G,V66I" "0,0,0,0,0,0" 100885848 5327 dbsnp9672 NP_001129514.2 "D351N,D89N,F64L,G230E,G524A,L470V,N462S,R58M,S69G,V66I" "0,0,0,0,0,0,0,0,0,0" 100885850 5327 dbsnp9677 NP_001121548.1 "A108V,A141V,A6V,E60K,R73C" "0,0,0,0,0" 388333 5864 dbsnp9686 NP_001244260.1 P351L 0 409 7950 dbsnp9691 NP_112229.1 C91Y 0 81851 13415 dbsnp9693;dbsnp9694 NP_112230.1;NP_940995.1 "N179S,P190R,P46L,R241Q,R249H,R249P" "0,0,0,0,0,0" 114897 11263 dbsnp9696 NP_005365.3 "A79V,P2R,R363W,R430H,R500W,R507C,S506I" "0,0,0,0,0,0,0" 4355 5814 dbsnp9697 NP_055220.1 "D295N,S184A,T197I,V109I" "0,0,0,0" 27092 8046 dbsnp97 NP_079406.3 "A236E,A236V,A839T,C217Y,D33N,E108D,G697A,I717R,I717T,I752V,K401N,N116S,R396C,R426C,R42Q,R776W,R793W,R827W,S109N,S892P,T114M,T58S,T66I,V201M,V632M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80201 2477 dbsnp970 NP_004887.2 "I122F,M327I,N125S,N308D,R127H" "0,0,0,0,0" 9559 9995 dbsnp9700 NP_963860.1 "G270R,K420E,P8R,R364W,R3H,V200E" "0,0,0,0,0,0" 201232 8025 dbsnp9702 NP_000975.2 "I99T,K59R,N93T" "0,0,0" 6147 13803 dbsnp9704 NP_060489.1 "A55S,A89T,Q117L" "0,0,0" 55090 14002 dbsnp9705 NP_550435.1 "E176D,E252K,E252Q,N234Y,Q161H,V131M" "0,0,0,0,0,0" 433 10637 dbsnp9713 NP_116226.2 "E134A,P133L,P23A,S123I" "0,0,0,0" 84923 12819 dbsnp9715 NP_114169.2 "G91V,I60T,R48C,S6F,T79I" "0,0,0,0,0" 83901 11919 dbsnp9716 NP_219487.3 "A141G,D67G,L271M,N228S,R159S,R248Q,T174I,V185I,Y70F" "0,0,0,0,0,0,0,0,0" 93210 10401 dbsnp9717 NP_002852.1 "A378V,M48T,Y105H" "0,0,0" 5833 8446 dbsnp971;dbsnp972 NP_001164236.1;NP_115816.2 "H199P,Q118E,R301K,S289N" "0,0,0,0" 84458 7898 dbsnp9721 NP_612637.1 "A373T,A426V,A756P,A778T,D216N,D584G,D771N,E418K,I136V,K559R,L115M,M768L,P475L,P631L,P710L,R114W,R125C,R468Q,R737Q,R773H,V169M,V283G,V423M,V534F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124565 1659 dbsnp9724 NP_954976.1 "D245H,D254N,D254Y,F211C,G118V,G290R,H548Q,P16R,Q268H,Y405C" "0,0,0,0,0,0,0,0,0,0" 201176 2666 dbsnp9725;dbsnp9727 NP_852606.1;NP_001229393.1 "G120S,H18N,P131S,P131T,R160H,S162Y" "0,0,0,0,0,0" 84152 12885 dbsnp9728 NP_003954.2 "C62G,F185L,G125D,N121D" "0,0,0,0" 9032 13040 dbsnp9732 NP_064583.2 "A40T,I328V,T111A,Y205C,Y372C" "0,0,0,0,0" 57003 6954 dbsnp9734 NP_665810.1 "A206V,E207K,G5R,H233Y,I156F,N92S,R218H,R60W,R98H,T128K,T128M,V61F" "0,0,0,0,0,0,0,0,0,0,0,0" 27091 11379 dbsnp9739 NP_055413.1 "A45V,K572R" "0,0" 30837 5398 dbsnp974 NP_060895.1 "A279T,R328Q,S9F,T330A,V113M,V394I,V444I" "0,0,0,0,0,0,0" 55361 6984 dbsnp9740 NP_694942.3 "C641F,G515E,P639L,P825T,P947L,V1020A" "0,0,0,0,0,0" 124739 1649 dbsnp9741 NP_055388.2 M108V 0 27346 13440 dbsnp9742;dbsnp9743 NP_000990.1;NP_001030335.1 C38R 0 6169 14878 dbsnp9744 NP_005558.1 "C561S,D549A,F383L,L548Q,N160T,Q162K,R393Q,R436P,S149R,V9M" "0,0,0,0,0,0,0,0,0,0" 3959 5344 dbsnp9745 NP_001203.1 "A81T,E216K,I173K,T130M" "0,0,0,0" 708 11242 dbsnp975 NP_001071133.2 "C129Y,K264R,L62F,R249H,R507C,R515H,R565Q,R70Q,S611P" "0,0,0,0,0,0,0,0,0" 414189 4207 dbsnp9752 NP_001128508.1 "R177C,S199T,W202R" "0,0,0" 201158 11348 dbsnp9753 NP_001191407.1 "N163Y,S135P,T150R" "0,0,0" 100533496 11348 dbsnp9754 NP_001191141.1 L139Q 0 283999 12483 dbsnp9757 NP_997196.1 "E86A,H551Y,I319V,L619V,P235R,R457H,R472W,R488W,R677Q,S231L,S555R,T311P,T837A,T965R,V386I,V578A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124842 2168 dbsnp9758 NP_859058.2 "P152L,P236L" "0,0" 124773 12212 dbsnp9759 NP_982249.1 "A124V,A151P,A20S,A20V,A33S,P19A,P36R,S30C" "0,0,0,0,0,0,0,0" 388407 11888 dbsnp976 NP_005720.1 "G92A,N150K,P137L,V135M,V181L,V181M" "0,0,0,0,0,0" 10105 121 dbsnp9764 NP_060245.2 "A384S,D86V,G117R,I334T,I421L,P374L,R395G,R425T,T456I,T6K" "0,0,0,0,0,0,0,0,0,0" 54902 6646 dbsnp977 NP_683878.1 "G111R,G6S,V377I,W47R" "0,0,0,0" 53354 5162 dbsnp9770 NP_001407.1 "V313M,V344L" "0,0" 1973 8362 dbsnp9771 NP_057686.2 "R326W,S357T" "0,0" 2826 9371 dbsnp9772 NP_002552.2 "A368T,A398V,A74V,E186K,E397K,G292R,L32Q,R197C,R310C,R84W,S79L,V73M" "0,0,0,0,0,0,0,0,0,0,0,0" 5026 8120 dbsnp978 NP_079485.1 "C566Y,M283T,M283V,M287I,N365S,N753S,S523A,T356M,T714M,V447I,V687I" "0,0,0,0,0,0,0,0,0,0,0" 80314 3000 dbsnp979 NP_005387.2 "D269N,D52H,F150S,H283Y,I79L,K252Q,S156L,Y381C" "0,0,0,0,0,0,0,0" 5408 7208 dbsnp9791 NP_077733.3 "A474S,L446R,Y383C" "0,0,0" 9489 5760 dbsnp9793 NP_689979.1 "A5P,A99V" "0,0" 254863 14506 dbsnp9795 NP_076921.1 "G117S,L225V,P90Q" "0,0,0" 3218 11107 dbsnp9798 NP_997270.2 "G206S,P125S,P202L,R166G,R178Q" "0,0,0,0,0" 388341 9820 dbsnp9799 NP_001107039.1 "D217N,R231H,R241W" "0,0,0" 388341 9820 dbsnp98 NP_277035.2 H7R 0 3098 2477 dbsnp9802;dbsnp9803 NP_001229429.1;NP_065730.2 "E194K,E253D" "0,0" 57409 11630 dbsnp9809 NP_006447.2 "A123P,A261T,H79R,K271E,R164S,R188H,R340Q,T192I,V219M" "0,0,0,0,0,0,0,0,0" 10610 9120 dbsnp981 NP_789762.1 "E96G,L100V,P132T,P166L,V212A" "0,0,0,0,0" 84545 12237 dbsnp9811 NP_001010982.2 "A41P,G71S,G96R,P113L,P232L,R143C,R151W,R35Q,R57Q,Y159C" "0,0,0,0,0,0,0,0,0,0" 125061 10699 dbsnp9813 NP_079461.2 "G1222E,H497N,I153S,N728S,R1969Q,R40C,R516Q,T1429I,V1596G,Y1589H" "0,0,0,0,0,0,0,0,0,0" 26115 429 dbsnp9814 NP_001007534.1 "G87R,L57P,R16Q" "0,0,0" 116729 13843 dbsnp9817 NP_653280.1 "A381T,A489T,D189N,G146V,K457E,P228L,P32L,P398A,R158G,R226W,R258C,R321H,R448Q,R60C,S155F,T296M,T453K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146705 6217 dbsnp9820;dbsnp9821;dbsnp9822;dbsnp9823;dbsnp9824;dbsnp9825 NP_004198.1;NP_001035887.1;NP_001193879.1;NP_001035888.1;NP_001193880.1;NP_001193881.1 "A15V,A311V,A434S,F300L,G333S,R224Q,V244L,V42I" "0,0,0,0,0,0,0,0" 9123 7308 dbsnp9826 NP_612138.1 "A29S,N44S,P199L,P25R,P43R,R135P" "0,0,0,0,0,0" 1748 11037 dbsnp9838 NP_004686.1 "A142T,D269E,E51K,G115S,G186R,H303P,L368F,M359V,M412T,P205L,P255L,R136Q,R137Q,R463H,R76H,V340M,V491L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9121 6570 dbsnp9839 NP_056168.1 N224S 0 23510 10370 dbsnp984 NP_003666.1 "A171T,E53G" "0,0" 8559 9860 dbsnp9845 NP_003101.3 "P239L,P372S,S380P,T382A,V323M" "0,0,0,0,0" 6668 4994 dbsnp9846;dbsnp9847 NP_001073852.1;NP_005488.2 "A310T,G237S,V394I" "0,0,0" 10052 8672 dbsnp9848 NP_848612.2 "G85S,H235Q,N126D,R36G,V378L,V493A" "0,0,0,0,0,0" 284098 6594 dbsnp9850 NP_002972.1 "I56V,I63R,P43L" "0,0,0" 6346 14715 dbsnp9853 NP_001238968.1 P22L 0 5878 11934 dbsnp9854 NP_079120.1 "A275T,M142V,P126S,R542H,R567Q,T248A" "0,0,0,0,0,0" 79902 4525 dbsnp9861 NP_072052.1 "A203T,M155T,S201C" "0,0,0" 2689 11791 dbsnp9863 NP_149051.1 "C75W,S132I,T59S" "0,0,0" 85291 12748 dbsnp9864 NP_001004431.1 "A178S,H249R,P157L,P242L,Q142R,R220Q,R293K,T112M,T112R,V200I" "0,0,0,0,0,0,0,0,0,0" 284207 10638 dbsnp9865 NP_149440.1 G16A 0 85294 14284 dbsnp9867 NP_002800.2 "A233T,A388V,I464T,R216Q,Y114H" "0,0,0,0,0" 5709 6081 dbsnp9868 NP_112228.1 "C153Y,D112H,I106V" "0,0,0" 81850 13415 dbsnp9875 NP_620693.1 G408S 0 1453 8249 dbsnp9877;hgmd0613_2285 NP_631961.1 "G470S,G52S,G542S,I312V,N362D,R388H,R395Q,R406G,Y122C" "0,0,0,0,0,0,0,0,0" 8148 5250 dbsnp9878 NP_114166.1 "A168T,G16S,L151V,P177L,R152H,V178L" "0,0,0,0,0,0" 728224 12748 dbsnp9879 NP_001182474.1 "A121V,A141V,A204T,A55S,G97R,I153V,L172V,M236I,R253C,S212L,V186M" "0,0,0,0,0,0,0,0,0,0,0" 100505591 11380 dbsnp9880 NP_001078899.2 "I87V,S18L" "0,0" 339210 14754 dbsnp9882;dbsnp9883;dbsnp9885;dbsnp9886;dbsnp9887;dbsnp9888 NP_001180582.1;NP_001028218.1;NP_001093877.1;NP_001180586.1;NP_001180584.1;NP_001180583.1 "A131V,E167A,G181S,I157V,K81E,L49F,N62D,V52I" "0,0,0,0,0,0,0,0" 79415 13236 dbsnp9889 NP_659436.1 "A365V,D215N,I266T,L251P,R480H" "0,0,0,0,0" 201255 4372 dbsnp9890 NP_001028733.1 "D182E,D189E,N229S,N665D,N737S,P396S,P587L,S630R,V766I" "0,0,0,0,0,0,0,0,0" 57649 2094 dbsnp9892 NP_996663.1 "C103R,C143F,L206S,Q57E,R24H,V212I" "0,0,0,0,0,0" 388364 11654 dbsnp9893 NP_002979.1 "A7T,N74D,N74S" "0,0,0" 6362 14738 dbsnp9895 NP_055334.2 "E36K,F396L,H142R,S31L,S344A" "0,0,0,0,0" 7775 7697 dbsnp9897 NP_004731.2 "P38L,R70C,R70H,V53M,Y48F" "0,0,0,0,0" 9220 14477 dbsnp9898 NP_001106178.1 "A133V,A711V,N713S" "0,0,0" - 3432 dbsnp9899 NP_006843.2 "A165V,A743V,N745S" "0,0,0" 11011 3432 dbsnp9900 NP_071319.2 "A100T,C178S,I114V,I96V,L80I,P121T,P427T,Q10L,R14Q,R197Q,R365W,V288L,V478I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55890 6907 dbsnp9902 NP_071439.3 "A232T,G364S,K375Q,T365M" "0,0,0,0" 64118 7153 dbsnp9903 NP_001034931.1 "A22S,P28Q,Q32R,S39T" "0,0,0,0" 339229 13981 dbsnp9904 NP_001002244.1 "G60A,Q65E,S43R,T74M" "0,0,0,0" 51529 13065 dbsnp9905 NP_694563.1 "F28L,G319R,H216Q,I157M,R86G" "0,0,0,0,0" 124961 1857 dbsnp991 NP_003626.1 "A628T,D812G,E382D,M375V,P255Q,P255R,Q575R,R401C,R506Q,R67W,R834Q,R874Q,S56N,T848M,Y730S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8509 2699 dbsnp9910;hgmd0613_1918 NP_062559.2 "C6Y,H165R" "0,0" 56270 9821 dbsnp9911 NP_057164.3 "A280S,A281E,D233G,E104K,E215D,F9C,K124R,R262Q,V13L,V189I,V77A,Y75C" "0,0,0,0,0,0,0,0,0,0,0,0" 51031 10584 dbsnp9912 NP_077278.1 "G153D,P453S,R487C,R500H" "0,0,0,0" 79148 6313 dbsnp9913 NP_110429.1 "C115Y,D315N,R399C,R399H,S168N,S407F" "0,0,0,0,0,0" 81558 7537 dbsnp9916 NP_001010855.1 "A707D,D624N,G370A,K736R,R220H,S66T,T666I,V650M" "0,0,0,0,0,0,0,0" 146850 3579 dbsnp9917 NP_659435.2 "A44V,G7A" "0,0" 201254 14901 dbsnp9918 NP_057161.1 V21I 0 51651 13380 dbsnp9919 NP_005883.2 "A694T,D913N,D959N,P1021L,P28L,R145H,R314Q,R790H,S434N" "0,0,0,0,0,0,0,0,0" 752 1713 dbsnp992 NP_001116848.1 "D214N,E177V,G192R" "0,0,0" 643236 11375 dbsnp9920 NP_001171835.1 "N227S,Q253P,S348N" "0,0,0" 84961 7844 dbsnp9922 NP_112237.2 "K20Q,L67V,R141H,S161Y,T120S,T25S" "0,0,0,0,0,0" 81870 11919 dbsnp9924 NP_001094065.1 "P27L,T53S" "0,0" 348235 14396 dbsnp9925 NP_219481.1 "A295T,G294W,I87V,K293N,M244T,R151C,R198Q,R53W,V242M" "0,0,0,0,0,0,0,0,0" 90506 10382 dbsnp9926 NP_848663.1 "A308V,G147S,R27W,R346W,S421L" "0,0,0,0,0" 146760 7753 dbsnp9927 NP_036272.2 "I57T,N229Y,R153H,V89M" "0,0,0,0" 1468 11161 dbsnp9928 NP_937797.1 "A80V,R30H,R92P,R92Q,S175F" "0,0,0,0,0" 339168 13297 dbsnp9929;dbsnp9932;dbsnp9933;dbsnp9934 NP_001137470.1;NP_001191339.1;NP_002994.3;NP_001137471.1 "A51S,A534S,A581S,E173G,G588A,P587L,P587S,P650S,R263S,T303M" "0,0,0,0,0,0,0,0,0,0" 6397 3889 dbsnp9936 NP_008957.1 "T12I,V184I" "0,0" 11072 13019 dbsnp9937;hgmd0613_1964 NP_065846.1 "K561R,S246R" "0,0" 57555 2909 dbsnp9938 NP_114170.1 "G42A,G42D,G42V" "0,0,0" 83902 11311 dbsnp9939 NP_001156467.1 "E9D,Q8K,V13M" "0,0,0" 643008 14840 dbsnp9940 NP_001156469.1 D13Y 0 100130933 14908 dbsnp9941 NP_006603.2 "A371T,A379G,A795S,A860T,E883Q,G767R,I244M,P437L,P700L,P909Q,Q289P,R1024Q,R167W,R719C,R864H,R912W,S295L,S996N,T702I,T703M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10749 651 dbsnp9942 NP_004581.1 "Q120H,S35F,V51A" "0,0,0" 6360 14404 dbsnp9943 NP_981945.1 L25M 0 388394 14405 dbsnp9944 NP_001004313.1 "I65V,R84H,T154S" "0,0,0" 388335 13728 dbsnp9945 NP_945344.1 "E244Q,K302R,L110P,R171H,S198G" "0,0,0,0,0" 342667 8365 dbsnp9946 NP_056409.1 "I27V,I50V,L61R,R147G,R21W,S104N" "0,0,0,0,0,0" 26083 13926 dbsnp9948 NP_777580.1 "A424T,E369K,G301R,P234L,P350A,P350S,P350T,R190G,R208Q,R409C,R436W,T335M" "0,0,0,0,0,0,0,0,0,0,0,0" 201191 7676 dbsnp9950 NP_055541.1 "A356V,A508T,Q176R,R170Q,R228W" "0,0,0,0,0" 9755 4974 dbsnp9954;dbsnp9955 NP_008918.1;NP_001177340.1 "A303V,A305T,E188D,E193Q,P175S,R64Q,S208G,T182M,V67I" "0,0,0,0,0,0,0,0,0" 9501 10537 dbsnp9958 NP_659478.1 "H233R,N150S,P47T,S6T,S6Y,V46M" "0,0,0,0,0,0" 113277 11655 dbsnp9959 NP_005955.3 "A1076V,A1368S,A1726V,A965V,D1061E,E1892A,E341D,I76V,K363R,Q1349H,R1007C,R1007G,R1704Q,T1231A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4628 432 dbsnp9962 NP_001129955.1 "E164K,R113H,R138C,R90C,Y151C" "0,0,0,0,0" 284067 13647 dbsnp9964 NP_835227.1 "A413V,A421E,A442G,D273N,L271V,P367R,Q306P,R218W,R22C,R231H,R359H,S173N,T427K,T9M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162427 7284 dbsnp9965 NP_005693.1 "A152T,A252V,A51T,D426N,H181R,K317N,N260D,R112W" "0,0,0,0,0,0,0,0" 26284 7828 dbsnp9966 NP_001123493.1 "A770V,G772V,I560T,L418F,M94I,R6Q,T595M,T697A,V499A" "0,0,0,0,0,0,0,0,0" 535 2854 dbsnp997 NP_955524.3 "A3P,E110D,E196G,F63S,K24Q,K42N,L174R,L33I,P209L,R101H,R77C,S111L,S169R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 22891 7370 dbsnp9970 NP_009156.2 "P86S,R43G,R43W,R48Q,V123A" "0,0,0,0,0" 11248 11875 dbsnp9971;dbsnp9972 NP_987095.1;NP_031398.2 "D125N,K650M,M265T,S754I,T569A,T742A,V86I" "0,0,0,0,0,0,0" 11325 2398 dbsnp9973 NP_997269.2 "E114K,P348L,R451H,R463Q,S493N,T478M,V248I" "0,0,0,0,0,0,0" 388336 5832 dbsnp9976 NP_079111.1 "K537N,N434S" "0,0" 79893 4102 dbsnp9977 NP_612358.3 "I144L,P50A,S229T" "0,0,0" 90313 8735 dbsnp9978 NP_536340.1 T264A 0 5414 6795 dbsnp998 NP_955523.1 "E315K,L40F,R235H,R302C,S360G,T370M" "0,0,0,0,0,0" 22891 7370 dbsnp9980 NP_057154.2 "A56T,H176L,H176R,P59H,R42K,S184P" "0,0,0,0,0,0" 51649 13173 dbsnp9981 NP_848588.3 "D473N,Q465R,T284M,T427A" "0,0,0,0" 147111 6728 dbsnp999 NP_996892.1 "E259G,H218Y,K160E,K83Q,L13P,N220D,P246A,R151Q,T106I" "0,0,0,0,0,0,0,0,0" 404636 9502 dbsnp9990 NP_055025.2 "A191T,G187S,H13R,Q176R,S165Y,V21L,V84I" "0,0,0,0,0,0,0" 2123 11730 dbsnp9992 NP_076922.1 "E168Q,G163V,Y10C" "0,0,0" 3219 11921 dbsnp9995 NP_002136.1 "E39K,F344S,Q64R,R200P,S337P" "0,0,0,0,0" 3212 9063 dbsnp9997 NP_114168.1 "C134R,Y151S" "0,0" 83900 11919 dbsnp9998 NP_065823.1 "G204S,L108S,P88Q,S15N,S276P,S394T,S582C,T392A,Y265C" "0,0,0,0,0,0,0,0,0" 57532 4122 dbsnp9999 NP_056325.2 "A191T,A251V,A48S,I288L,N85H,T97I,Y135C" "0,0,0,0,0,0,0" 25979 10280 evn1054 NM_016489 "D274N,K18R,Q123E" "0,0,0" 51251 9990 evn779 NM_001127656 "A112G,V102A" "0,0" 8048 13090 hgmd1000;sw3921;evn898;dbsnp4463 NP_002274;KRT85_HUMAN;NP_002274.1 "A487V,C234G,C454S,D189N,F71S,G13R,G476S,I292V,I478F,I66V,L378P,R238Q,R492L,R505H,T324M,T461S,V141G,V227I,V438A,V481M,W155L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3891 5134 hgmd1001;sw755;evn1027;dbsnp4532;hgmd0613_907 NP_002275;KRT86_HUMAN;NP_002275.1 "C217F,E402K,E402Q,E413D,E413K,I275V,N114D,N114H,R475G,V249I,Y6H" "0,1,1,1,1,0,1,1,0,0,0" 3892 5134 hgmd1002;sw2993;spmut1019;evn897;dbsnp9211;hgmd0613_186 NP_000217;K1C9_HUMAN;NP_000217.2 "A141S,C406R,D180E,G146D,G480A,G507R,G507V,G548C,G611A,G75E,L160F,L160V,L168S,L458F,M157R,M157T,M157V,N161H,N161I,N161K,N161S,N161Y,N266Y,Q172P,R163P,R163Q,R163W,R374W,S366G,S467F,S484T,S551N,S82N,V171M" "0,1,0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,0,0,0,0,0,1" 3857 4864 hgmd1003;sw5032;evn426;dbsnp17995;dbsnp17996;hgmd0613_1133 NP_003928;KYNU_HUMAN;NP_001186170.1;NP_003928.1 "A242V,H41Y,K412E,K464T,L6V,R188Q,R358W,T198A" "0,0,0,0,0,0,0,1" 8942 7288 hgmd1004;sw2888;evn1121;dbsnp30211;hgmd0613_351 NP_000416;L1CAM_HUMAN;NP_000416.1 "A415P,A426D,A691D,A691T,C264Y,C497Y,D202Y,D598N,D770N,E309K,G121S,G1239E,G268D,G370R,G452R,G698R,H210Q,H30N,I179S,I219T,K655E,L1140V,L482P,L935P,L958V,M437V,M509V,M741T,N159H,N408I,P10S,P240L,P90L,P941L,R184Q,R184W,R351H,R386C,R473C,R525C,R632P,R739W,R751P,R846L,R886Q,S1194L,S1224L,S542P,S674C,S903L,T527A,V302L,V373M,V394A,V421D,V47F,V719M,V752M,V768F,V768I,V774M,W335C,W335R,W9S,Y1070C,Y194C,Y784C" "1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,0,1,1,0,0,0,1,0,1,0,1,0,1,1,1,0,1,1,0,1,0,1,0,0,1,1,1,1,0,0,0,0,0,1,0,0,1,1,0,0,1,1,1,1,1,1" 3897 1259 hgmd1005;sw10423;dbsnp5667;hgmd0613_2094 NP_079160;L2HDH_HUMAN;NP_079160.1 "E176D,G55D,G57R,H434P,H98R,H98Y,K81E,L18R,P302L,P3L,R33S,Y178F,Y367C" "1,1,1,1,1,1,1,0,1,0,0,0,1" 79944 7338 hgmd1006;dbsnp24768;hgmd0613_352 NP_000417;NP_000417.2 "A1178T,A1496V,A301V,A468G,A961T,C1970S,D2921N,D316N,D560G,E1637K,E308K,F2371V,G1002S,G2547E,G600R,G993E,H1082Y,H1337R,H2417R,H644D,I1853R,I2761T,I606V,K1561Q,K467R,L545Q,M2278V,N1099S,N181S,N2169S,N2843S,N775K,P1033R,P25L,P2919S,P2925L,P3083L,P549S,Q2043R,Q2054R,Q944R,R1402H,R1450Q,R1674K,R1773W,R1802H,R1844H,R1844S,R2477S,R499C,R619H,R670H,R826W,R84Q,R919C,R919L,R96S,R998H,S1052G,S146C,S1878F,S541G,T1205A,T2056K,T2263M,T2370I,T2636A,T2895S,T2973K,T2973M,T3029A,T605I,T821A,T821M,V2217I,V2233I,V2662A,V2882M,V2910I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3908 132 hgmd1007;evn782;dbsnp10331;hgmd0613_187 NP_000218;NP_000218.2 "A1608T,A438V,A537T,C10R,D1096H,D1525H,D912N,F165L,G1224S,G1537R,G556R,G62V,H1268Y,H1588R,H665R,I1112T,I1112V,K322E,L1259P,L1682P,L26M,L660V,M828T,N1206K,N1307I,N1678Y,N313S,N893S,P3L,Q1081R,Q86R,Q98R,R1034L,R1083H,R108H,R1342C,R1472C,R1578C,R1695K,R232H,R366H,R372W,R416Q,R432Q,R538Q,R538W,R880W,S1152L,S1225G,S1263N,S1509N,S523A,S945N,T1093A,T1385P,T1583S,T318I,T971K,V1139I,V352M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3909 113 hgmd1008;evn169;hgmd0613_908 NP_002281;NP_001098677.2 "A276D,D115E,G1423R,G246S,H73R,I1699L,L1259F,L544I,P1261Q,Q1260T,T1118M,V917I" "0,0,0,0,0,0,0,0,0,0,0,0" 3910 544 hgmd1009;sw3695;dbsnp20165;hgmd0613_909 NP_002283;LAMB2_HUMAN;NP_002283.3 "A1680V,A1738V,A1745T,A1765P,A1765T,C321R,D573N,E1109K,E85K,E987K,G436S,G914R,H1383Q,H147R,I992T,K1520R,K87N,L1393F,N102K,N1292I,N1380K,P1185A,P1185S,P37A,P588A,P629L,Q136H,R1078C,R1148H,R1345H,R1388Q,R1581H,R1592W,R235W,R246Q,R246W,R520C,R575Q,R863H,R925W,T1480A,T1796P,T398I,V200I" "0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0" 3913 562 hgmd100;sw984;evn283;dbsnp9329;hgmd0613_696 NP_001130;LX12B_HUMAN;NP_001130.1 "A75S,C410F,E176K,G465V,G51D,G529D,G94S,H578Q,L426P,P127L,Y498H" "0,0,0,0,0,0,0,1,1,0,0" 242 2941 hgmd1010;sw4568;sws569;dbsnp13543;dbsnp13544;dbsnp13545;hgmd0613_188 NP_000219;LAMB3_HUMAN;NP_000219.2;NP_001121113.1;NP_001017402.1 "A590V,A607T,A621V,A855G,A855V,A926D,D111G,D1146Y,D309E,D384G,D535N,D982G,E210K,E323G,E351K,F4L,F689S,G287S,G691S,H1160R,I516V,L1098P,L559F,L6F,M1123K,M852L,N181D,N690S,P304L,P425L,P480L,P679L,Q495R,R1023Q,R1042W,R1135Q,R135H,R183C,R183H,R230T,R23C,R23H,R245H,R292H,R292L,R366W,R517C,R623Q,R716Q,R754G,R754W,R848W,R958H,R988W,S438T,T1004P,T271N,T908I,V527M,V753G,Y339H" "0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3914 1499 hgmd1011;sw2119;dbsnp30145;hgmd0613_910 NP_002285;LAMP2_HUMAN;NP_002285.1 "A129T,G13W,G221R,I252S,N275D,P256H,T196S,V381A,W321R" "0,0,0,0,0,0,0,0,1" 3920 8373 hgmd1012;sw1311;evn645;dbsnp17417;dbsnp17418;hgmd0613_1260 NP_004728;LARGE_HUMAN;NP_004728.1;NP_598397.1 "E509K,E71K,E74A,I24V,I696T,M69V,N234D,P44L,Q48K,R195H,R60W,R650Q,R664K,R665H,R68G,R68P,S31A,S331F,S92A,T101S,T55A,V131I,V474I,V690A,W495R,Y693H" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0" 9215 3552 hgmd1013;sw4738;evn799;dbsnp13617;dbsnp13618;hgmd0613_911 NP_002287;LBR_HUMAN;NP_002287.2;NP_919424.1 "A332V,C603R,G289E,I399V,L192R,M219T,M346V,P119L,P569R,R169C,R172K,R203Q,R353W,R372C,R413C,R95C,S154N,S361F,S537A,T311A,V188I,Y300C,Y430C" "0,0,0,0,0,0,0,1,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 3930 4966 hgmd1014;sw6873;evn488;dbsnp24631;dbsnp24632;hgmd0613_2434 NP_859065;LCA5_HUMAN;NP_001116241.1;NP_859065.2 "A546P,A684V,D26A,D676Y,G656D,I527V,L24S,L499R,N271S,R301H,R517I,R66Q,R66W,R94Q,S615G,S630G,T394K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 167691 4096 hgmd1015;pmd813.1;pmd814.1;pmd1978.1;pmd2093.1;pmd2159.1;pmd2206.1;pmd2488.1;pmd2590.1;pmd2591.1;pmd2592.1;pmd3052.1;pmd4425.1;pmd4426.1;sw1637;spmut1105;dbsnp7720;hgmd0613_189 NP_000220;LCAT_HUMAN;NP_000220.1 "A117T,A165T,F406V,G54S,G57R,G95R,K242N,L233P,L338F,L396R,M276K,M317I,N252K,N29I,P331S,P34L,P34Q,R123C,R159Q,R159W,R164C,R164H,R171W,R182C,R268C,R268H,R322C,R347C,R386P,S115P,S205N,S232T,S43N,T147I,T298A,T298I,T345M,T371M,T37M,V114M,V246F,V333M,V70E,W99S,Y180N" "1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,1,1,1,1,1,1,0,1,1,1,1,1" 3931 7758 hgmd1016;sw1911;dbsnp18577;hgmd0613_912 NP_002290;LPH_HUMAN;NP_002290.2 "A1096T,A1483S,A1483T,A152T,D106E,D1584N,D905G,G1363S,I362V,L770F,M1642L,N1639S,P1923Q,P614L,Q1114R,Q268H,R1587H,R689H,S101G,S190L,T1283M,T1286I,V1593M,V219I,V440I,Y1549C" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0" 3938 465 hgmd1017;evn1016;dbsnp481;hgmd0613_629 NP_001073585;NP_001073585.1 "A195T,S205N,V109I,V110A" "0,0,0,0" 11155 3768 hgmd1018;pmd3737.1;sw1431;evn271;dbsnp2168;hgmd0613_1392 NP_005557;LDHA_HUMAN;NP_005557.1 "A147S,H193Y,K222E,R315C,S161R,Y10H" "0,0,1,0,0,0" 3939 8956 hgmd1019;pmd4424.1;sw1757;evn272;dbsnp4031;dbsnp4032;hgmd0613_913 NP_002291;LDHB_HUMAN;NP_001167568.1;NP_002291.1 "A35E,D312E,D322V,F171V,G69E,K7E,M175L,M175V,R107W,R172H,R172P,S129R,S256N,T18A,V19I,W325R" "1,0,0,1,1,1,1,0,1,1,1,1,0,0,0,1" 3945 8956 hgmd101;pmd2116.1;sw2251;spmut1128;evn516;dbsnp9448 NP_001131;LOX15_HUMAN;NP_001131.3 "A461P,A488S,D90H,G102V,G113S,G28S,G31R,H355R,I187V,K37T,L194P,L49F,M603V,N103K,P565L,P617S,R205Q,R322H,R404G,R522W,V239M,V426G,V479A,Y139C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 246 4443 hgmd1020;pmd197.1;pmd198.2;pmd1571.1;pmd1654.1;pmd1809.1;pmd2835.1;pmd3244.1;pmd4429.2;sw1492;spmut1108;dbsnp10742;hgmd0613_432 NP_000518;LDLR_HUMAN;NP_000518.1 "A391T,A399D,A431T,A50S,A606S,A606T,A860V,C109R,C116R,C134F,C134W,C155G,C160Y,C173R,C173W,C184Y,C197F,C197R,C197Y,C222Y,C231G,C248F,C248Y,C255S,C261F,C270Y,C276R,C276Y,C27W,C302W,C302Y,C313Y,C318F,C318R,C318Y,C329F,C329Y,C338S,C352Y,C358Y,C364R,C368R,C379R,C379Y,C46S,C52Y,C667Y,C677R,C89Y,C95G,D139H,D168H,D168N,D168Y,D172H,D175N,D175Y,D221G,D221N,D221Y,D224G,D224N,D224V,D227E,D256G,D266E,D301A,D304E,D304N,D342E,D342N,D354G,D354V,D356Y,D415G,D433H,D482H,D579N,D579Y,D700E,D90G,D90N,D90Y,E101K,E140K,E201K,E228K,E228Q,E240K,E277K,E288K,E357K,E408K,E626K,E714K,F403L,G20R,G324S,G335S,G343S,G516S,G546D,G549D,G565V,G592E,G844D,H327Y,H485R,I423T,I441M,I441N,I451T,I792F,L401H,L401V,L414R,L432V,L479P,L568V,L599S,L682P,M702I,M767I,N370T,N564H,N564S,P105S,P526S,P608S,P649L,P685L,P699L,P826S,Q254P,Q366R,Q92E,R253W,R303W,R350P,R406Q,R416Q,R416W,R471G,R633C,R78C,R814Q,S177L,S226P,S286R,S306L,S56P,T434K,T726I,V429M,V468I,V523M,V578A,V719A,V797M,V827I,W483R,W87G,Y828C" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,0,0,1,1,1,1,1" 3949 2828 hgmd1021;sw5565;spmut129;evn309;dbsnp14249;hgmd0613_1762 NP_056442;ARH_HUMAN;NP_056442.2 "A208T,R238Q,R238W,R95Q,S202H,S202P,T209I,T218I" "0,0,0,0,1,0,0,0" 26119 10683 hgmd1022;sw316;evn1139;dbsnp12987;hgmd0613_1036 NP_003231;LFTY2_HUMAN;NP_003231.2 "A358V,D44N,G209S,P14S,P286L,Q142R,R72C,R83Q,S342N,S92L,V328I,V57M" "0,0,0,0,0,0,0,0,1,0,0,0" 7044 9273 hgmd1023;sw3122;evn571;dbsnp26664;hgmd0613_190 NP_000221;LEP_HUMAN;NP_000221.1 "K36R,N103K,R105W,V110M,V94M,Y18C" "0,0,1,0,0,0" 3952 13585 hgmd1024;sw3327;spmut1109;dbsnp13346;hgmd0613_914 NP_002294;LEPR_HUMAN;NP_002294.2 "D124G,H416Y,I503V,K109R,K204R,K656N,L471I,M1160T,Q223R,Q571H,S675T,T1083A,T699M,T973N,V220I,V344I,V754M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3953 1512 hgmd1025;sw7829;dbsnp25959;hgmd0613_605 NP_001035257;LFNG_HUMAN;NP_001035257.1 "A343T,D231N,E152D,F188L,G294A,G38R,I362L,I362V,K244N,R239W,R341W,S169P,S274C,S274N,V223I,V303L,V346M" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 3955 8995 hgmd1026;sw1404;evn433;dbsnp819;hgmd0613_1309 NP_005088;LGI1_HUMAN;NP_005088.1 "A110D,C200R,C42G,C42R,C46R,E123K,E383A,F318C,G189S,I122K,I298T,I359V,K7Q,L154P,L232P,L245M,L26R,L419S,R136W,S145R,S216P,S439L,S473L,T390M,T421I,V388A,V388I,V432E,V440M,V69I" "1,1,1,1,1,1,1,1,0,1,1,0,0,1,1,0,1,0,1,1,0,0,1,0,0,0,0,1,0,0" 9211 5731 hgmd1027;pmd3245.1;sw1505;evn408;dbsnp11215;hgmd0613_519 NP_000885;LSHB_HUMAN;NP_000885.1 "A67G,G122S,H30R,I35T,M15I,Q74R,R26Q,R63H,T78N,W28R" "0,0,0,0,0,1,0,0,0,0" 3972 13225 hgmd1028;sw2551;sws286;spmut1140;evn614;dbsnp18536;hgmd0613_193 NP_000224;LSHR_HUMAN;NP_000224.2 "A373V,A568V,A572V,A593P,C131R,C343S,C543R,C581R,D564G,D578E,D578G,D578Y,E354K,F594L,I152T,I542L,I575L,I625K,L16Q,L337S,L368P,L457R,L502P,M398T,M571I,N284S,N312S,P19L,Q18R,Q190K,R124Q,R695C,S201A,S306N,S616Y,S639N,S661P,T272A,T577I,V144F,V208I,V454I,Y113N" "1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,0,1,1,1,1,1,0,0,0,0,0,0,0,0,0,1,0,0,0,1,1,0,0,0" 3973 4077 hgmd1029;sw8118;evn1097;dbsnp25603;hgmd0613_2438 NP_872354;TMHS_HUMAN;NP_872354.1 "G104A,K205N,R159H,R176L,R20Q,T165M,T216Q,Y127C" "0,0,0,1,0,1,0,1" 222662 12216 hgmd102;sw9870;dbsnp9110;hgmd0613_1992 NP_067641;LOXE3_HUMAN;NP_067641.2 "A150D,A172T,A535P,A589T,A694P,I515V,I705T,P630L,Q344P,R396S,R670W,R678C,R678H,T569N,T624I,V500F" "0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,1" 59344 2941 hgmd1030;evn373;dbsnp28864;hgmd0613_1694 NP_055379;NP_055379.1 "E313D,G133D,G358D,G8V,K89R,L7P,N182D,N275T,Q286P,Q286T,R73C,S299A,S354P,V81I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8022 8535 hgmd1031;sw8685;evn710;dbsnp14306;hgmd0613_2208 NP_203129;LHX4_HUMAN;NP_203129.1 "A210P,A354V,E129K,G220A,G379A,H387Q,I341V,L190R,N328S,P325S,P389T,R84C,S237G,T6A,T6S" "1,0,0,0,0,0,0,1,0,0,1,1,0,0,0" 89884 8535 hgmd1032;evn628;dbsnp17767 NP_002300;NP_002300.1 "A139P,A139T,A196T,I194T,Q193E,T87M" "0,0,0,0,0,0" 3976 12909 hgmd1033;sw3185;sws367;evn701;dbsnp23328;dbsnp23329;hgmd0613_915 NP_002301;LIFR_HUMAN;NP_001121143.1;NP_002301.1 "D16N,D578N,D816G,E233K,E467Q,E84K,H116Y,I110V,I224V,I423V,I633M,I695V,K804E,N1096K,N226S,P983R,R597L,R597Q,R768G,R860W,R88H,S151C,S279P,S392I,S664L,T122A,T32A,T646N,V185I,V785I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 3977 1722 hgmd1034;sw2379;sws261;dbsnp11541;hgmd0613_194 NP_000225;DNLI1_HUMAN;NP_000225.1 "A24T,A24V,A708T,D72G,E566K,G249E,G524S,I424T,K845N,L335F,M480V,N267S,P119L,P11R,P203L,P52L,Q892H,R409H,R62W,R672C,R677L,R771W,R94C,R94H,S47F,S51C,S839N,T614I,V349M,V369I,V753M" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 3978 2498 hgmd1035;sw3438;evn58;dbsnp4988;dbsnp4989;dbsnp4990;hgmd0613_916 NP_002303;DNLI4_HUMAN;NP_001091738.1;NP_002303.2;NP_996820.1 "A3V,A797S,A842D,A857T,D255N,D300N,D62H,D671N,E461G,E600K,E705K,G469E,H229R,I167R,I658V,K627R,L539F,L714S,M430L,P231S,P306S,Q5K,R278H,R580Q,R741H,S749P,S822L,T9I,V14I,V14L" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 3981 2546 hgmd1036;evn1156;dbsnp12387;hgmd0613_2116 NP_085915;NP_085915.2 "H206Q,M23T,R171C,R210C,V154I,V155L,V155M" "0,0,0,0,0,0,0" 3982 12625 hgmd1037;pmd823.2;pmd3068.1;sw3079;dbsnp124;dbsnp125;hgmd0613_195 NP_000226;LICH_HUMAN;NP_000226.2;NP_001121077.1 "A204V,D221G,D349G,F228S,G23R,H129P,H129R,I252L,L200P,S297G,T16P,V29L" "0,0,0,0,0,1,1,0,1,0,0,0" 3988 8082 hgmd1038;sw2029;dbsnp6369;hgmd0613_196 NP_000227;LIPC_HUMAN;NP_000227.2 "A106V,D409A,D472V,F356L,I66V,N215S,P443L,R477C,S289F,S309I,S440N,T272I,T405M,V342I,V95M" "0,0,0,0,0,0,0,0,1,0,0,0,1,0,0" 3990 6683 hgmd1039;sw12008;evn947;dbsnp10399;hgmd0613_1449 NP_006024;LIPE_HUMAN;NP_006024.1 "F430L,G96S,M361T,N396S,P467S,P73L,R224H,R312H,R389W,R476W,T111I,T298S,T41I,T464A,V278I,V68L" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 9388 6654 hgmd103;pmd47.2;pmd408.1;pmd1164.1;pmd3702.2;pmd3976.1;pmd4178.1;pmd4540.2;sw1698;dbsnp13936;hgmd0613_388 NP_000469;PPBT_HUMAN;NP_000469.3 "A111T,A114G,A116T,A132V,A176T,A177T,A179T,A33V,A348T,A399S,A40V,A468T,A51S,A51V,C201Y,C489S,D189E,D294A,D294Y,D306V,D378V,D406G,E191G,E191K,E235G,E291K,E298K,E311K,E354D,E452K,E476K,F327G,F327L,G120R,G129R,G162S,G162V,G220A,G220V,G249V,G326R,G334D,G339R,G426C,G426D,G456R,G473S,G491R,G63R,G63V,G75S,H171R,H171Y,H381R,I212F,I490F,K224E,L275P,L289F,L299P,L414M,M295T,M62L,M62V,N124S,N170D,N211D,N417S,N478I,P108L,P292T,Q207P,Q76R,R136H,R184W,R223Q,R223W,R246S,R272H,R272L,R391C,R391H,R450C,R450H,R71C,R71H,R71P,R71S,S17F,S181L,S445P,T134H,T134N,T148I,T245M,T273M,T305M,T411A,T68M,V128M,V382I,V423A,V459M,V461I,V522A,V95M,Y263H,Y28C,Y297D,Y436H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,1,0,0,0,0,1,1,1" 249 6052 hgmd1040;sw8443;spmut1116;evn674;dbsnp21303;hgmd0613_2288 NP_640341;LIPH_HUMAN;NP_640341.1 "A180G,D136E,I336M,L11M,R307K,T286M,T314M,T369A,V41M,W108R" "0,0,0,0,0,0,0,0,0,1" 200879 7565 hgmd1041;dbsnp17026;hgmd0613_2475 NP_945347;NP_945347.1 "C307R,C76Y,D465E,E452K,G195D,G253R,G385E,H175D,H17D,T139A" "0,1,0,0,0,0,0,0,0,0" 149998 6977 hgmd1042;sw9507;sws1068;spmut1121;evn1014;dbsnp7694;dbsnp7695;hgmd0613_1275 NP_004853;LITAF_HUMAN;NP_001129944.1;NP_004853.2 "A66V,G112S,I92V,L122V,T115N,T49M,W116G,Y23H" "0,1,0,1,1,1,1,0" 9516 13692 hgmd1043;sw3373;evn136;dbsnp10341;hgmd0613_1393 NP_005561;LMAN1_HUMAN;NP_005561.1 "A38V,G25S,I168V,I355T,K440R,M377V,M410L,N210K,P274L,P471S,Q455R,R14Q,R202Q,V13A,V39A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3998 6463 hgmd1044;evn447;dbsnp14438;hgmd0613_1394 NP_005563;NP_005563.1 "E448D,G411S,G412S,I128L,I128M,I299V,K208I,M200L,R133L,R133P,R401H,R527H,R527P" "0,0,0,0,0,1,0,0,1,1,0,1,1" 4000 4433 hgmd1045;sw4122;sws503;evn277 NP_116126;LMNB2_HUMAN;NP_116126.3 "A407T,I502V,K559Q,L405T,M563V,R215Q,S439G,V487I" "1,0,0,0,0,1,0,0" 84823 4433 hgmd1046;evn327;dbsnp28655;hgmd0613_917 NP_002307;NP_002307.2 "S206N,S362R,S75F,V179M" "0,0,0,0" 4010 8482 hgmd1047;dbsnp24618;hgmd0613_1395 NP_005568;NP_005568.2 "D1147N,G1822A,G1822E,G1823V,I1891M,L1358V,L1372V,L1961P,M1679T,P1428L,P1668S,R1421Q,R1508Q,R2016C,R990Q,T1399P,T1565N,T2031N,Y2023C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4018 51 hgmd1048;sw3240;evn1116;dbsnp5000;dbsnp5001;dbsnp5002;hgmd0613_1415 NP_005758;LPAR6_HUMAN;NP_001155969.1;NP_001155970.1;NP_005758.2 "C137W,D63V,E189K,I188F,I195M,I33V,S253C,T138I,T212S,W307C" "0,1,1,1,0,0,0,0,0,0" 10161 9209 hgmd1049;sw4730;sws595;evn747;dbsnp18760;hgmd0613_2319 NP_663731;LPIN1_HUMAN;NP_663731.1 "A353T,E262D,G582R,I205T,I541V,K595N,L219P,P610S,Q373E,R605H,S114L,S637T,T338I,V494M,V622I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23175 2629 hgmd104;sw9309;evn349;dbsnp18640;hgmd0613_1970 NP_065970;ALS2_HUMAN;NP_065970.2 "D543N,E1173K,E159K,H102R,I615V,I94V,P1467T,P372R,R1406K,S1021N,S1255F,V111I,V368M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57679 682 hgmd1050;sw8534;evn748;dbsnp10571;hgmd0613_1702 NP_055461;LPIN2_HUMAN;NP_055461.1 "A173T,A175P,A367P,D894V,E351G,E601K,G596S,I505T,P149L,P378L,P623S,P626S,S199C,S574T,S579P,S72N,S734L,T320I,V391I" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0" 9663 2629 hgmd1051;pmd206.1;pmd207.2;pmd208.1;pmd209.2;pmd518.2;pmd1837.1;pmd1838.1;pmd1882.1;pmd1979.1;pmd1990.1;pmd1991.2;pmd2034.1;pmd2094.1;pmd2095.1;pmd2097.1;pmd2098.1;pmd2160.1;pmd2161.1;pmd2492.1;pmd2493.1;pmd2494.2;pmd2495.1;pmd2496.2;pmd2497.1;pmd2498.1;pmd2499.2;pmd2500.2;pmd2501.1;pmd2502.2;pmd2896.1;pmd3053.1;pmd3054.1;pmd3055.1;pmd3056.1;pmd3057.1;pmd3060.1;pmd3061.1;pmd3062.1;pmd3063.1;pmd3064.1;pmd4067.2;sw1747;spmut1118;evn437;dbsnp27311;hgmd0613_197 NP_000228;LIPL_HUMAN;NP_000228.1 "A185T,A203T,A288T,A361T,A427T,A458V,A460V,A50G,A98T,C243S,C266W,C305R,C310Y,C445Y,D183G,D183H,D183N,D201V,D207E,D231E,D277N,E119Q,E190G,E437K,E437V,E448K,F297L,G132R,G169E,G181S,G181V,G186E,G215E,G215R,G222E,H163R,H210D,H210Q,H68R,H71Q,I221T,I232S,I252T,K129T,K225R,L279R,L279V,L303F,L313P,L330F,L330P,L392V,M328R,M328T,N70S,P184R,P234L,R102S,R270C,R270H,R333H,S199C,S220R,S271T,S278C,S286G,S286R,S325R,S365F,T10A,T128A,T379A,T379I,V208I,V227A,V370M,V442G,V64M,V8L,V96L,W113G,W113R,Y289H" "1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,0,1,1,1,0,0,0,0,1,1,1,1" 4023 7099 hgmd1052;pmd203.1;pmd815.1;sw1258;spmut1134;evn610;dbsnp22592;hgmd0613_1262 NP_004735;LRAT_HUMAN;NP_004735.2 "A135S,A204V,A30T,F25V,K104R,K133T,P173L,S175R" "0,0,0,0,0,0,0,1" 9227 12315 hgmd1053;sw3987;sws477;evn346;dbsnp18395;hgmd0613_1219 NP_004516;LRP2_HUMAN;NP_004516.2 "A1220V,A1287P,A1691V,A1901G,A2044T,A2872P,A2872S,A2872T,A31V,A3344T,A3602T,A3826V,A57V,A63V,D1279A,D135N,D2054N,D2256Y,D2469G,D3227G,D3779N,D3864N,D389E,D4242G,E1764G,E2418G,E2952K,E3072A,E4560D,F1192L,F2161L,F2286L,F449Y,G223A,G2352A,G259R,G259S,G4197A,G4417D,G669D,H1083Q,H1104R,H2529R,H909R,I1642V,I2065T,I2415V,I2476L,I2640V,I3389V,I397V,I4096T,I4210L,K1034E,K2939E,K4094E,K4304N,L1044R,L1737F,L1913V,L2185F,L3335I,L4055F,L726F,M2069T,M2489T,M3159I,M3509L,M4601I,N1041S,N1669D,N1797S,N192S,N2158T,N2632D,N3205D,N547D,N83S,P1151L,P2313L,P2544S,P260L,P3468L,P519S,R100H,R1037K,R131G,R1643Q,R2012K,R2336Q,R2336W,R2791K,R2820S,R3011M,R3014W,R3138H,R3206H,R3305H,R34H,R3646H,R368H,R3765Q,R3888H,R4127H,R4127S,R501Q,R819H,S1145L,S1152T,S1433T,S1767N,S2059F,S3104N,S3561N,S3627I,S3957F,S4587A,S531R,T2086S,T2284A,T4612A,T4641S,T50S,T649A,T817M,T868S,T978M,V1203I,V1451F,V1765M,V2036I,V2429I,V2583M,V3698M,V3999G,V4141I,V4562A,V607I,V675A,W1126C,Y2522H,Y3217C,Y658C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 4036 45 hgmd1054;sw971;dbsnp1681;hgmd0613_919 NP_002326;LRP5_HUMAN;NP_002326.2 "A1330V,A1525V,A1537T,A214T,A214V,A242T,A29T,A400E,A522T,A745V,A97V,C1253F,C1361G,D1099Y,D111Y,D203N,D434N,D511A,D683N,D761E,E1367K,E441K,E460K,F617C,G1364S,G1401D,G171R,G171V,G404R,G520V,G550R,I775T,I786M,K88R,L1149Q,L145F,L34F,M1086V,M282V,M728L,N1121D,N1419S,N531I,P961L,Q89R,R1036Q,R1113C,R1135C,R1342L,R154M,R348W,R353Q,R444C,R494Q,R538Q,R570Q,R570W,R701H,R752G,R805W,S1553R,S307F,S356L,S455L,S55F,T1540M,T173M,T244M,T253I,T390K,T409A,T535M,T798A,V1204L,V1399I,V580I,V667M,W478R,W504C,Y1168H,Y733H" "0,0,0,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,0,0,0,1,1,0,0,1,0,1,0,1,0,0,1,1,0,0,1,1,1,1,1,0,1,1,0,1,1,0,1,1,1,0,0,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1" 4041 718 hgmd1055;sw1037;spmut1136;evn469;dbsnp3758;hgmd0613_920 NP_002327;LRP6_HUMAN;NP_002327.2 "A1334S,D1405V,D264N,D735N,I1028V,I175V,I236T,K1354N,M624V,N251S,N38S,P1509S,Q1369R,Q194R,R1136W,R1401H,R611C,S1009N,S179T,S243N,S61G,S817C,S888A,S921A,T1479I,V1048I,V1062I,V1382F,V1390I,V15A,V370L,V483I,V567I,V586I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4040 718 hgmd1056;sw3186;evn35;dbsnp19245;hgmd0613_2252 NP_573566;LPPRC_HUMAN;NP_573566.2 "A14D,A14G,A205T,A354V,A510G,D1352E,E432G,E674K,F737L,G434D,H643R,I1074V,I1146V,I560L,K868N,L139V,L20F,L630M,L630V,L899P,N1199D,P1012S,Q1214R,Q319R,S1206L,S1378G,T476A,T478A,T478S,T784R,T814I,V755A,Y207F" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10128 988 hgmd1057;sw7821;dbsnp7571;hgmd0613_2428 NP_848547;DAAF1_HUMAN;NP_848547.4 "D246N,D387E,D435N,D555V,E432D,F545C,F607S,G396V,G414V,G434R,G703R,I573T,K101N,K393R,L175R,L504P,L539P,L633S,L659P,L659Q,L659V,N182K,P106T,P452T,P499L,P499T,P502L,P663L,P712A,Q260H,Q307E,S675T,T590M,V523I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 123872 3825 hgmd1058;dbsnp3884;hgmd0613_2470 NP_940980;NP_940980.3 "A419V,D1375E,D944Y,E334K,E899D,F2344V,H275Q,I1371V,I723V,L119P,L1351W,L580F,M1646T,M2397T,N1710S,N2081D,N2261I,N246H,N551K,N59K,P1262A,P1542S,P2119L,P755L,Q116R,Q1823K,R1325Q,R1398H,R1514Q,R1538C,R1628H,R1628P,R793M,S1647T,S2341R,S865F,T1410M,Y2346H" "0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,1,0,0,0,0,0" 120892 235 hgmd1059;sw4744;dbsnp5464;hgmd0613_353 NP_000419;LTBP2_HUMAN;NP_000419.1 "A1204V,A1358S,A924V,D1010V,D1380H,D1779E,E1541K,E890K,G1088S,G1288V,H1185Y,P1626L,P262L,P317L,P319Q,P591S,P599L,P989R,R1429Q,R1603H,R37M,R532Q,R538W,R905C,S267L,S526N,S657L,S707R,T1016I,T1401A,V1506M,V1590A,V1686I,V776I,Y1655C" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4053 547 hgmd105;sw1227;evn338;dbsnp15607;hgmd0613_1512 NP_006483;ALX3_HUMAN;NP_006483.2 "G117R,G22R,K66N,L168V,N203S,P234A,R183W,R196W" "0,0,0,1,1,0,1,1" 257 9826 hgmd1060;pmd202.1;sw1593;spmut2209;dbsnp19919 NP_002334;TRFL_HUMAN;NP_002334.2 "A193V,A29T,D648G,G422C,I148T,I324F,I62N,K118R,K47R,L632M,L632V,P614L,R152H,R255Q,R291H,R449K,R627H,R94Q,S540I,T389A,V357L,V365M,V451M,V482L,V537M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4057 3966 hgmd1061;sw2752;spmut1144;evn475;dbsnp6615 NP_002335;LTK_HUMAN;NP_002335.2 "A646T,A654T,C384R,D535N,G519D,P227L,P41S,P483S,P745S,P838S,R376P,R376Q,R42Q,R569S,R586H,R647Q,R673Q,R678H,R679S,R727C,S51R,T798F,V541I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4058 3188 hgmd1062;dbsnp27815;hgmd0613_1749 NP_056179;NP_056179.3 "P142L,P157S,R68K,S12C" "0,0,0,0" 23643 13713 hgmd1063;sw9496;evn1003;dbsnp13870;hgmd0613_58 NP_000072;LYST_HUMAN;NP_000072.2 "A1546V,A2098T,A2757T,C808Y,D1330A,D1666N,D199E,D2130N,D2228H,D2271G,D4N,D838G,E2161A,E2684K,E2809G,E702G,F2598Y,F3596L,F820L,G1764A,G2804D,G2812D,G3126D,G407A,H123Q,H123R,H1457P,H189Q,H513R,H815Y,I1070V,I1073V,I237T,I2886T,I593T,I825V,K1799T,K3006R,L1833F,L192V,L3183P,M1182V,M2490V,N1228S,N1526K,N1792D,N2971K,N3181S,P1787T,P2211R,P2831A,P2987R,P462S,Q1949H,Q2206E,Q2237P,Q231R,Q562H,R1104Q,R1352G,R1446Q,R1563H,R2225C,R2611H,R2624W,R3412H,R3509Q,R559H,R988Q,S1017N,S1028C,S1028Y,S1120I,S1253R,S1840A,S1925N,S2152N,S2676I,S522L,S575L,T1982I,T2116M,T3593A,V1216A,V1678A,V1999D,V2340I,V2546G,V2585I,V2856A,V2936I,V3174I,V3483I,V3557L,V3696I,V3717I,V909I,Y1891C,Y425N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 1130 84 hgmd1064;pmd213.1;pmd1547.1;pmd1548.1;pmd1608.1;pmd1609.1;pmd1610.1;pmd1670.4;pmd1671.1;pmd1672.1;pmd1761.1;pmd1762.1;pmd1763.1;pmd1770.1;pmd1771.1;pmd1883.1;pmd1884.1;pmd1887.1;pmd1888.1;pmd1925.2;pmd1981.1;pmd2035.1;pmd2096.1;pmd2162.1;pmd2163.1;pmd2505.1;pmd2506.1;pmd2507.1;pmd2602.1;pmd2603.1;pmd3070.1;pmd3096.1;pmd3097.1;pmd3842.1;pmd3843.1;pmd4069.1;pmd4070.1;pmd4071.1;pmd4430.1;sw3855;dbsnp3604;hgmd0613_199 NP_000230;LYSC_HUMAN;NP_000230.1 "D85H,I74T,L4V,Y72F" "1,1,0,0" 4069 13943 hgmd1065;evn228;hgmd0613_1358 NP_005351;NP_005351.2 "A207S,A252G,H394Q" "0,0,0" 4094 8515 hgmd1066;dbsnp30632;hgmd0613_2154 NP_115497;NP_115497.4 "M1I,R38W,S43C,V343G" "0,0,0,1" 84061 9249 hgmd1067;sw4513;spmut1169;evn317;dbsnp29747;hgmd0613_1376 NP_005482;MAMD1_HUMAN;NP_005482.2 "A309V,A402T,G422S,H347Q,I510M,L431F,M249I,N513K,N662S,P359S,P558S,Q580R,Q602K,R623H,S329F,S519N,T151A,T202M,T247I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10046 2121 hgmd1068;sw390;evn470;dbsnp11102;hgmd0613_433 NP_000519;MA2B1_HUMAN;NP_000519.2 "A250S,A45P,A481S,A95P,C501S,C55F,D159N,D74E,E203D,E608K,E754K,F1000S,G390C,G420V,G451C,G741R,G800R,G800W,G801C,G801D,G891R,G96S,H200L,H200N,H374R,H445Y,H72L,K89N,L278V,L352P,L565P,L809P,L892P,L956R,N413S,N973D,P197R,P248L,P263L,P282S,P356R,P379L,P636S,P669L,Q494R,Q582E,Q699H,R140Q,R202P,R229W,R337Q,R708W,R750W,R916C,R916H,R950H,R950P,S318L,S453F,S453Y,S802G,S907I,T312I,T312N,T355P,T745R,V457E,W714R,Y99H" "0,0,0,1,1,1,1,1,0,0,0,1,1,1,1,0,1,1,0,1,1,0,1,1,0,1,1,0,0,1,1,1,1,1,0,0,1,0,1,0,1,1,0,0,0,0,0,0,1,1,0,0,1,1,1,0,1,1,1,1,0,0,0,0,1,1,1,1,1" 4125 2063 hgmd1069;sw346;evn862;dbsnp21724;hgmd0613_1427 NP_005899;MANBA_HUMAN;NP_005899.3 "A517G,D414G,I878T,P784R,R160C,R160H,R641S,R734H,R738H,S719T,S727F,T701M,V133M,V253I,V253L,V321F,V731M,V828I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4126 2716 hgmd106;sw10110;dbsnp2098;hgmd0613_2003 NP_068745;ALX4_HUMAN;NP_068745.2 "A243V,L373F,P102S,P120L,P306L,R218Q,R257T,R272P,R296Q,R35T" "0,0,0,0,0,1,0,1,0,0" 60529 8352 hgmd1070;pmd3141.1;pmd3144.1;pmd3348.1;pmd3349.2;sw4098;spmut1261;evn765;dbsnp6910;hgmd0613_979 NP_002746;MP2K1_HUMAN;NP_002746.1 "A283V,A366G,F53S,G380D,G392S,M274L,N382H,V393I,Y130C" "0,0,1,0,0,0,0,0,1" 5604 8573 hgmd1071;sw3040;dbsnp12557;hgmd0613_2117 NP_109587;MP2K2_HUMAN;NP_109587.1 "F57C,P282S,R388W,T396M,V262I,V283L" "1,0,0,0,0,0" 5605 8573 hgmd1072;sw11693;spmut1011;evn105;dbsnp2537;hgmd0613_1370 NP_005447;JIP1_HUMAN;NP_005447.1 "A292P,A322V,E276V,E546K,G222S,L300P,P122S,P247S,R353Q,S147G,S59N,T100A" "0,0,0,0,0,0,0,0,0,0,1,0" 9479 3956 hgmd1074;sw291;spmut1184;dbsnp13702 NP_006601;MASP2_HUMAN;NP_006601.2 "A132V,C156Y,D244N,D355V,D371Y,D415N,D685N,H155R,H157R,I276M,K290E,K556E,P17A,R118C,R439H,R99Q,S13L,S628G,S642G,T128M,T16I,T294M,T381I,T599I,T88M,V311I,V377A,V405M,W573C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10747 4197 hgmd1075;evn343;dbsnp510;hgmd0613_2187 NP_116233;NP_116233.2 "A349T,D414E,D589N,D606Y,E329Q,E396Q,E472G,F834C,G12R,H707L,I24V,I409V,I459M,K644Q,L291F,M339K,M579I,M579T,P620A,R383C,R736Q,S452Y,T337K,V610I,V729A,V873I,Y548D,Y687C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84930 2719 hgmd1076;pmd231.1;pmd3523.2;pmd3741.2;sw4004;evn725;dbsnp990;hgmd0613_354 NP_000420;METK1_HUMAN;NP_000420.1 "A55D,E238K,E344A,G336R,G378S,I322M,L305P,P357L,Q119H,R163Q,R177Q,R199C,R199H,R264C,R264H,R356Q,S38N,V241I" "1,0,1,1,1,1,1,1,0,0,0,1,0,1,1,1,1,0" 4143 8676 hgmd1077;sw556;dbsnp18728;hgmd0613_924 NP_002372;MATN3_HUMAN;NP_002372.1 "A128P,A173D,A219D,C304S,E134K,E252K,E318G,F105S,I192N,K231N,P11S,R121W,R209P,R70H,S63A,T120M,T195K,T303M,V194D,V245M,Y218N" "1,1,1,1,1,0,0,1,1,1,0,1,1,1,0,1,1,0,1,1,1" 4148 6896 hgmd1078;sw3209;evn928;dbsnp23890;dbsnp23891;dbsnp23892;dbsnp23893;hgmd0613_2479 NP_954659;MATR3_HUMAN;NP_001181883.1;NP_001181884.1;NP_954659.1;NP_061322.2 "D771E,E664A,F236V,G704A,I720M,N787S,S234P,S748A,S85C" "0,0,0,0,0,0,0,0,1" 9782 2910 hgmd1079;sw11408;spmut1188;evn92;dbsnp10277;dbsnp10281;hgmd0613_1772 NP_056671;MBD1_HUMAN;NP_001191068.1;NP_056671.2 "A180V,A426V,E315K,F127L,H239R,P293S,P294A,P401A,R404H,R413Q,R91K,T301A,T435I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4152 4540 hgmd107;sw11363;dbsnp22959;hgmd0613_1679 NP_055139;AMACR_HUMAN;NP_055139.4 "E277K,G175D,L107P,L201S,M261I,M261T,P238S,P327L,Q239H,R118Q,R97P,S52P,V185A,V9M" "0,0,1,0,0,0,0,0,0,0,0,1,1,0" 23600 8716 hgmd1080;sw693;spmut1192;evn583;dbsnp30039;hgmd0613_1775 NP_056968;MBTP2_HUMAN;NP_056968.1 "A103T,F475S,H227L,M87I,N508S,R429H,T162A,T162M,T299S,V440I,V56I,W226L,Y113S,Y73C" "0,1,1,1,1,1,0,0,0,0,0,1,0,0" 51360 6322 hgmd1081;pmd845.1;pmd846.1;pmd4440.1;sw4053;dbsnp7366;hgmd0613_926 NP_002377;MSHR_HUMAN;NP_002377.4 "A166G,A171S,A57V,C289R,D84E,F196L,G104S,G89R,I120T,I40T,L192M,L211V,L93R,L99P,M128T,N281S,R151H,R162P,R163Q,R67Q,S41F,T95M,V122M,V156L,V38M,V51A,V92M" "0,0,0,1,0,0,0,0,1,1,0,0,0,0,1,1,0,0,0,0,1,0,1,0,1,1,0" 4157 10463 hgmd1082;pmd2536.1;pmd2537.1;pmd2538.1;pmd2539.2;pmd2540.1;pmd2910.1;pmd4273.1;sw4052;evn601;dbsnp10562;hgmd0613_434 NP_000520;ACTHR_HUMAN;NP_000520.1 "C251F,D103N,D107N,F278C,I44M,M59V,P27R,R128C,R137P,R137W,R146H,R23H,S120R,S74I,T152A,T159K,T164A,V239I,V45I,Y254C" "1,1,1,1,1,0,0,1,1,1,1,0,1,1,0,1,0,0,0,1" 4158 10925 hgmd1083;sw3152;evn718;dbsnp16343;hgmd0613_1921 NP_063941;MC3R_HUMAN;NP_063941.3 "F45S,I146N,I298S,L212F,L212V,M238T,R220S,R311K,S47A,T157N,V44I" "0,1,1,0,0,0,0,0,0,0,0" 4159 10086 hgmd1084;pmd1.2;pmd227.2;pmd228.1;sw2895;evn1106;dbsnp10410;hgmd0613_1429 NP_005903;MC4R_HUMAN;NP_005903.2 "A175T,A219V,C271R,C271Y,D37V,G181D,G252S,G98R,I102S,I102T,I125K,I170V,I182V,I226T,I251L,I301T,I316S,I317T,L106P,L250Q,L325F,N274S,N62S,N97D,P78L,R165Q,R165W,S109G,S127L,S30R,S36Y,S58C,T112M,T11A,T11S,T150I,V103I,V253I,V50M" "1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1" 4160 10086 hgmd1085;pmd546.3;sw9367;evn13;dbsnp20357;hgmd0613_1926 NP_064551;MCCA_HUMAN;NP_064551.3 "A289V,A446V,A44T,A670V,C276R,C332Y,D532H,E717K,G593A,G648S,H464P,I147M,K69E,L437P,L498F,L598M,M325R,N560T,N569Y,N85T,Q646K,R281Q,R385S,R500Q,S535F,S591R,T525A,V428M,Y387C,Y590H" "1,0,0,0,1,0,1,0,0,0,0,0,0,1,0,0,1,0,0,0,0,1,1,0,1,0,0,0,0,0" 56922 3826 hgmd1086;sw10526;evn1125;dbsnp23822;hgmd0613_2019 NP_071415;MCCB_HUMAN;NP_071415.1 "A218T,A249V,A478G,C167R,D110N,D280Y,E99Q,G443S,I200N,I437V,I441T,N403S,N480S,P20L,P310R,P459S,R155Q,R193C,R268T,R72Q,S173L,T486A,V339M,V4A,W276C" "1,0,0,1,0,1,1,0,1,1,1,1,0,0,1,1,1,1,1,0,1,0,1,0,0" 64087 5628 hgmd1087;sw9271;evn219;dbsnp18826;hgmd0613_2176 NP_115990;MCEE_HUMAN;NP_115990.3 "A76V,K60Q,P56S,R104L,R143C,R143H" "0,1,0,0,1,0" 84693 13429 hgmd1088;sw8103;evn1050;dbsnp19513;dbsnp19514;dbsnp19515;hgmd0613_2290 NP_644808;MCFD2_HUMAN;NP_001164977.1;NP_644808.1;NP_001164978.1 "A24T,D129E,I136T,L111I,N86S,R4K,S94C" "0,1,1,0,0,0,0" 90411 13992 hgmd1089;pmd215.1;sw9498;evn1010;dbsnp17299;hgmd0613_1349 NP_005288;MCHR1_HUMAN;NP_005288.3 "A296T,D28V,G103R,G264S,G34R,G66S,H141R,L47V,N32D,P377S,R210H,R317Q,S95L,T25A,T25M,T305M,T411M,Y250H" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1" 2847 8100 hgmd108;evn554;dbsnp30477;hgmd0613_2440 NP_872621;NP_872621.1 "I109L,I126T,V160L" "0,0,0" 265 12844 hgmd1090;sw10022;sws1120;evn1022;dbsnp12359;hgmd0613_1948 NP_065394;MCLN1_HUMAN;NP_065394.1 "A138V,D362Y,E534D,F465L,G529S,H286N,L106P,L447P,M334I,P197S,Q291R,R102Q,R168Q,R403C,S110L,S216A,S257R,T232P,T261M,V341A,V446L" "0,1,0,1,0,0,1,1,0,0,0,0,0,1,0,0,0,1,0,0,1" 57192 5402 hgmd1091;dbsnp27403;hgmd0613_2076 NP_078872;NP_078872.2 "A212T,A555V,D392G,D61G,E581G,G783R,I264V,L602F,L833F,P288H,R304I,S102N,S102T,S580G,S731C,S801G,T682N,Y330C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79648 3002 hgmd1092;pmd226.1;sw3512;evn1083;dbsnp30218;hgmd0613_1294 NP_004983;MECP2_HUMAN;NP_004983.1 "A140V,A181V,A201V,A287P,A439T,A444T,D156G,D97E,D97Y,E10Q,E137G,E38D,E394K,E397K,F155I,F155S,G161V,G232A,G428S,H367L,H367P,K135E,K210I,K284E,K305R,L100R,L100V,L124F,P101H,P101L,P101R,P101S,P101T,P152R,P225L,P225R,P251L,P302A,P302H,P302L,P302R,P322A,P322L,P322S,P376S,P388L,P388S,P399L,P402L,P480S,Q128P,R106Q,R106W,R111G,R133C,R133G,R133H,R167W,R250C,R306C,R306H,R344W,R453Q,S134C,S229L,S291A,S359P,S86C,T158A,T158M,T196S,T197M,T203M,T228S,V380A,V412I,Y120D" "1,0,0,0,0,0,1,1,1,1,1,0,0,1,1,1,1,0,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,0,0,1,1,1,0,0,0,0,0,1" 4204 6707 hgmd1093;sw8666;evn22;dbsnp30474;hgmd0613_1310 NP_005111;MED12_HUMAN;NP_005111.2 "D727N,N1007S,P1849T,Q1392R,R961W,S212G,T1797A,T327S" "0,1,0,0,1,0,0,0" 9968 347 hgmd1094;sw6524;evn1017;dbsnp3939;hgmd0613_1747 NP_056150;MD13L_HUMAN;NP_056150.1 "A1623T,A306T,A345D,A470T,A836T,D2023G,E251G,H1508Y,H428R,I1884V,I1937L,K1171R,K1216R,K686Q,L690M,M1I,M323I,M834I,N1241S,N1629S,N1720S,N1862S,P1487T,P1564L,Q187K,R1872H,R637C,R637H,S1306F,S13I,S1566L,S1570T,S1582T,S1770P,S635N,S831P,T1253I,T1618S,T503A,V444M,V945M" "0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23389 339 hgmd1095;sw6529;spmut1211;evn1108;dbsnp12642;hgmd0613_2132 NP_112235;MED25_HUMAN;NP_112235.2 "A251T,A335V,A624T,G609A,P201L,P319L,P51S,P590S,P605S,Q83E,S13G,S241P,S626Y,V14L,V213A" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 81857 3632 hgmd1096;sw627;dbsnp7325;hgmd0613_200 NP_000234;MEFV_HUMAN;NP_000234.1 "A311V,A744S,D661N,E148V,E163A,E167D,E22K,E230K,E319K,E474K,E656A,F451L,F479L,F585L,F743L,G138A,G632S,G678E,H478Y,I640M,I641F,I720M,K695M,K695R,L384P,L427M,L649P,M680L,M693V,M694I,M694L,M694V,P646L,P705S,P758S,P780T,Q440E,R202Q,R42W,R461Q,R653H,R761H,S104C,S108R,S675N,S702C,T177I,T267I,T681I,V33L,V502I,V704I,V726A,Y688C" "0,1,1,1,1,1,0,1,1,1,1,0,1,0,1,0,1,1,1,1,1,1,1,1,0,0,1,1,0,1,1,1,1,1,1,1,1,0,1,0,1,1,0,1,1,1,1,1,1,0,0,1,1,1" 4210 3349 hgmd1097;dbsnp1481;hgmd0613_2248 NP_570711;NP_570711.1 "R171Q,R171W,S512L" "0,1,0" 4221 4967 hgmd1098;sw4345;sws532;evn521;dbsnp18447;hgmd0613_1491 NP_006334;MERTK_HUMAN;NP_006334.2 "A258E,A282T,A951T,D843H,E289K,E540K,E823Q,E937K,F214V,I518V,I769V,I871T,I871V,L340S,N329S,N498S,P33L,P36L,P862S,P958L,Q662E,R20S,R293H,R421Q,R421W,R466K,R865W,R909H,S118N,S261N,S57T,S626F,S661C,T271S,V185M,V272M,V452L,V870I,V919I,Y812C,Y834C" "0,0,0,0,0,1,0,0,1,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 10461 2111 hgmd1099;sw4303;dbsnp7021;hgmd0613_603 NP_001035047;MESP2_HUMAN;NP_001035047.1 "A66G,L125V,R106G,S224F,V138M" "0,1,0,0,0" 145873 8637 hgmd109;dbsnp11795;hgmd0613_389 NP_000470;NP_000470.2 "A18V,P158S,Q325R,R441L,S49I,T143I,V12G" "0,0,1,0,0,0,1" 268 5676 hgmd10;sw1816;sws190;evn330;dbsnp26080;hgmd0613_526 NP_000918;MDR1_HUMAN;NP_000918.2 "A599T,A761V,A80E,A999T,D1088N,E108K,E406Q,E566K,F103L,F17L,G185V,I261V,I388S,I829V,I836V,K1168R,L662R,M1027T,M89T,M986V,N183S,N21D,N44S,P1051A,Q1107P,R489C,R593C,R669C,R669H,R669L,S1141T,S400I,S400N,S893A,S893T,T898S,V1106I,V1251I,V168I,V407F,V801M,W1108R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5243 1125 hgmd1100;evn788;dbsnp6368 NP_005919;NP_005919.2 "A62V,E104K,E104Q,F158V,G229R,G60A,H167Q,H173R,L76M,M113T,N356I,R3S,S121I,S296P,T210M,T214M,T247M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4240 8847 hgmd1101;sw1231;spmut1223;evn934;dbsnp14588;dbsnp14589;hgmd0613_1713 NP_055689;MFN2_HUMAN;NP_001121132.1;NP_055689.1 "A716T,E744M,F599L,G298R,G323A,H361Y,K357N,L233V,L76P,M381V,M393I,N17D,P251A,Q276R,R259L,R280H,R364W,R400Q,R468H,R94Q,R94W,T206I,V69F,W740S" "1,1,0,1,0,1,1,1,1,0,0,0,1,1,1,1,1,0,1,1,1,1,1,1" 9927 3541 hgmd1102;dbsnp2091;hgmd0613_2140 NP_113621;NP_113621.1 "A124V,G210V,G449S,I119V,L458F,Q324R,R201H,R257H,R266C,R54G,R64H,S338R,T112M,T143S,V136M,V47I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83552 5422 hgmd1103;sw8087;evn128;dbsnp22015;hgmd0613_2349 NP_689991;MFSD8_HUMAN;NP_689991.1 "A157P,A423V,D296N,E22D,E336Q,F219S,G197D,G310D,G385R,G429D,G52R,I111T,M470V,P106A,P447L,R139H,R465Q,R465W,T160I,T160N,T279A,T294K,T458K,V109G,V55I,Y121C" "1,0,0,0,0,0,0,1,0,1,1,0,1,0,1,1,1,1,1,1,0,1,1,0,0,1" 256471 6338 hgmd1104;sw4307;evn851;dbsnp6189;hgmd0613_929 NP_002399;MGAT2_HUMAN;NP_002399.1 "A78T,H262R,I255V,I369V,I413V,L173M,N318D,P77S,S290F,S74P,V245L" "0,1,0,0,0,0,1,0,1,0,0" 4247 7638 hgmd1105;sw9508;evn131;dbsnp22180;dbsnp22182;hgmd0613_930 NP_002404;MGST2_HUMAN;NP_001191295.1;NP_002404.1 "A101V,R145W,V85M,Y93H" "0,0,0,0" 4258 13967 hgmd1106;sw579;evn445;dbsnp30214;dbsnp30215;dbsnp30216;dbsnp30217;hgmd0613_316 NP_000372;TRI18_HUMAN;NP_000372.1;NP_001180206.1;NP_150632.1;NP_001092094.1 "C266R,E144D,F633L,I536T,L295P,L601P,L626P,N109H,P667L,Q275E,R308W,R521C,R85S,S471N,S47P,T112S,T52N,T52S,V77I" "1,0,0,1,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 4281 4811 hgmd1107;sw11629;sws1310;spmut1229;dbsnp1053;hgmd0613_1279 NP_004888;MINP1_HUMAN;NP_004888.2 "G63D,P272L,Q270K,Q270R" "0,0,0,1" 9562 6881 hgmd1108;pmd28.1;sw2783;evn1127;dbsnp4562;hgmd0613_1598 NP_036196;MIP_HUMAN;NP_036196.1 "A101V,E134G,P255A,R33P,T138R,V244D,V67I" "0,1,0,0,1,0,0" 4284 11231 hgmd1109;evn640;dbsnp20267;hgmd0613_202 NP_000239;NP_000239.1 "A98V,D334E,E318K,F190L,K86Q,L335V,N312S,T418A,V320A,Y364F" "0,0,0,0,0,0,0,0,0,0" 4286 6190 hgmd110;pmd590.2;sw5027;evn647;dbsnp4669;hgmd0613_1949 NP_065434;AMHR2_HUMAN;NP_065434.1 "A118T,A168V,D426G,D491H,G142V,H282Q,L249I,P572S,Q69K,R178Q,R406Q,R504C,R548Q,R54C,V458A" "0,0,1,1,1,1,0,0,0,0,1,1,0,1,1" 269 5512 hgmd1110;sw10626;dbsnp16035;dbsnp16036;hgmd0613_1903 NP_061336;MKKS_HUMAN;NP_061336.1;NP_740754.1 "A181P,A242S,A488T,A6T,C371G,C371S,C499S,C99R,D286A,D492N,G345E,G41R,G49V,G52D,G532V,H84Y,I32M,I339V,L277P,P299L,R155H,R155L,R23G,R23K,R518H,S236P,S460P,S511A,T237A,T237P,T325P,T57A,V288I,Y37C" "1,1,0,0,0,0,1,1,1,1,1,1,0,1,0,1,1,1,1,1,0,1,0,0,1,1,1,1,1,1,0,1,0,1" 8195 5544 hgmd1111;sw10940;evn108;dbsnp9376;hgmd0613_1844 NP_060247;MKS1_HUMAN;NP_060247.2 "A364G,C492W,D286G,D71E,E46K,G175S,I450T,L39F,P553H,Q506R,R123Q,R143G,R166W,R180L,R479H,S511G" "0,1,1,0,0,0,1,0,0,0,0,0,1,0,0,0" 54903 5695 hgmd1112;sw4813;dbsnp17618;dbsnp17619;hgmd0613_1734 NP_055981;MLC1_HUMAN;NP_631941.1;NP_055981.1 "A245P,C125R,C171F,E187D,G212R,G59E,L309M,M80I,N141K,N141S,N344D,N344S,P34L,P92S,R328H,R84C,S246R,S280L,S69L,S93L,T118R,T320K,V201I,V260L,V311E" "1,1,0,0,1,1,0,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,0,0,0" 23209 9031 hgmd1113;sw3109;sws360;evn914;dbsnp20223;hgmd0613_203 NP_000240;MLH1_HUMAN;NP_000240.1 "A111V,A128P,A21V,A282G,A441T,A492T,A539D,A586P,A589D,A619P,A623P,A681T,C77R,C77Y,D132H,D304V,D41G,D41H,D485E,D485H,D601G,D631A,D63E,E102K,E234G,E23K,E268G,E320D,E578G,E694A,E71Q,F656S,F80V,G101D,G101S,G22A,G244D,G244V,G54E,G67E,G67W,G98S,H109Q,H264Y,H329P,H718Y,I107R,I19F,I216S,I219V,I25F,I32V,I565F,I655V,I68N,K443Q,K618A,K618R,K618T,K751R,K84E,L155R,L260F,L260R,L292P,L503F,L549P,L550P,L559R,L574P,L582V,L585R,L588P,L607H,L622H,L636P,L724M,L729V,L749P,M35K,M35N,M35R,M383T,N215S,N338S,N38H,N551T,N635K,N64S,P28L,P309S,P603R,P640L,P640S,P648L,P648S,P654L,Q346H,Q516R,Q542L,Q542P,Q62K,Q689K,Q689R,R182G,R182K,R18C,R217C,R217G,R226L,R265C,R265H,R265S,R325Q,R385C,R385P,R472I,R474G,R474Q,R474W,R659L,R659P,R659Q,R687W,R69K,R755W,S106R,S193P,S247P,S295G,S295N,S295R,S295T,S321I,S406N,S44F,S93G,T116K,T117M,T117R,T662P,V185G,V185I,V185L,V213M,V326A,V384D,V506A,V716M,W666R,Y126N,Y379C,Y646C" "1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,0,1,0,1,0,0,0,1,1,0,0,1,0,1,1,1,0,1,1,1,1,1,1,0,0,1,0,1,1,1,1,0,1,1,1,1,1,0,1,1,0,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,0,1,1,0,1,0,1,1,1,0,1,0,1,1,0,1,1,1,1,1,1,0,1,0,1,1,0,1,0,0,1,1,1,1,0,1,0,1,0,1,0,0,0,1,1" 4292 3553 hgmd1114;sw11340;dbsnp5431;hgmd0613_604 NP_001035197;MLH3_HUMAN;NP_001035197.1 "A132T,A1394T,D1073N,D1105E,E1035K,E301V,E624Q,F120S,F50Y,F830L,G1163D,G1319R,G1343R,G981S,H494R,K231Q,K3R,K412E,L492V,M809V,M890I,N1147I,N499S,N826D,N925K,N975S,P844L,Q24E,R1115Q,R546I,R600Q,R797H,R93G,S1249F,S727N,S817G,S845G,S966P,T1066I,T606P,V420I,V723I,V741F,V971I,Y238S,Y720C" "0,1,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 27030 897 hgmd1115;sw9725;spmut1216;dbsnp18486;hgmd0613_2054 NP_077006;MELPH_HUMAN;NP_077006.1 "A408P,A408S,A582V,D163N,E33K,E391K,E391V,E407D,E411K,E411Q,E414Q,G160E,G172D,G271S,H347R,L153P,L212V,L516F,L516I,P258L,P448L,P451S,Q72R,R139W,R144W,R331Q,R35W,R572Q,S503L,T289I,V374A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 79083 5128 hgmd1116;dbsnp7666;hgmd0613_1614 NP_036345;NP_036345.2 "C360G,G443A,R11G,T284A" "0,0,0,0" 23417 6777 hgmd1117;sw7070;evn776;dbsnp21928;hgmd0613_2381 NP_758454;MMAA_HUMAN;NP_758454.1 "A267V,D418Q,E393K,G218E,H172Y,I398S,I398T,L89P,P2S,Q363H,R145Q,R196Q,R314H,R359G,R359Q,R360W,R417G,Y207C" "0,0,0,1,0,0,0,1,0,0,1,0,0,1,1,0,0,1" 166785 8191 hgmd1118;sw8906;dbsnp3268;hgmd0613_2214 NP_443077;MMAB_HUMAN;NP_443077.1 "A207V,C132R,C4R,E193K,G125S,I96T,M239K,R186W,R191W,R19H,R19Q,S69N,T62M" "0,0,0,1,0,1,0,1,1,0,0,0,0" 326625 11906 hgmd1119;sw11908;evn421;dbsnp14226;hgmd0613_1756 NP_056321;MMAC_HUMAN;NP_056321.2 "A191V,D60H,G147A,G147D,G156D,H122R,I145L,I99T,L116P,L193P,N142K,P42L,Q27R,R161G,R161Q,R189S,R206P,R206W,R267W,S271G,W157C,Y130H" "0,0,1,1,1,1,0,0,1,1,0,0,1,1,1,1,1,1,0,0,1,1" 25974 11225 hgmd111;sw9800;dbsnp6113;hgmd0613_2129 NP_112205;AMNLS_HUMAN;NP_112205.2 "A44T,H64Y,M55I,S92L,T41I" "0,0,0,0,1" 81693 7519 hgmd1120;sw10229;evn185;dbsnp19239;hgmd0613_1769 NP_056517;MMAD_HUMAN;NP_056517.1 "E138D,E138K,K29N,L259P,N206S,N3S,P236L,R158Q,R216G,S143I,T152R,T182N,V193A,Y249C" "0,0,0,1,0,0,0,0,0,0,0,1,0,1" 27249 10949 hgmd1121;sw3247;evn562;dbsnp1449;hgmd0613_932 NP_002418;MMP13_HUMAN;NP_002418.1 "A385T,A60V,D158N,D390G,D423E,D89H,E66D,F74S,F75S,G25D,H232N,H2L,H312R,H48Y,I169T,I427T,L373M,L375F,M64L,M91T,P286T,R18W,R458C,T15A" "0,0,0,0,0,0,0,1,1,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0" 4322 7177 hgmd1122;pmd841.1;pmd3471.1;pmd4372.1;pmd4373.1;pmd4374.1;sw1827;sws192;evn368;dbsnp7868;hgmd0613_1221 NP_004521;MMP2_HUMAN;NP_004521.1 "A167T,A447V,A545V,D210Y,E166K,E404K,F239L,G456S,G601V,G626S,M409I,R101H,R500H,T428S,V620I,V621L,Y543C" "0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0" 4313 4478 hgmd1123;sw904;evn630;dbsnp1742;hgmd0613_1265 NP_004762;MMP20_HUMAN;NP_004762.2 "A304T,D139N,E425G,G438A,I169L,I331T,K128T,K18T,L295V,M68V,M92V,P253S,P31L,P379L,R273Q,R422K,T121I,T130I,T281N,V275A,V474M" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 9313 6941 hgmd1124;pmd223.2;pmd1119.1;pmd3157.2;pmd3742.1;pmd3743.1;pmd4528.1;pmd4529.1;pmd4530.1;sw1828;dbsnp1534 NP_002413;MMP3_HUMAN;NP_002413.1 "H113P,I159T,K321N,M160I,M160L,P187S,R250H,S335P,T29A,V165A,Y116C,Y153H" "0,0,0,0,0,0,0,0,0,0,0,0" 4314 6430 hgmd1125;sw2194;spmut1254;dbsnp16052;hgmd0613_1295 NP_004985;MMP9_HUMAN;NP_004985.2 "A20V,D165N,E274D,E82K,F571V,G296S,L187F,L187V,N127K,N38S,P459S,P472S,Q279R,R239H,R24C,R574P,R668P,R668Q,T155I,T258I,Y179H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4318 4009 hgmd1126;sw3445;hgmd0613_1380 NP_005506;MNX1_HUMAN "Q290P,R245G,R245H,R292W,R293Q,R293W,T246S,W288G,W288L" "1,1,1,1,1,1,1,1,1" 3110 8557 hgmd1127;sw8890;evn117;dbsnp10301;hgmd0613_1860 NP_060417;MOCOS_HUMAN;NP_060417.2 "A281V,A297E,A297V,A57P,A848T,C558Y,D495N,E759G,E763D,H225R,H703N,I520T,K264E,L575P,L768V,M439T,M73T,N437D,P171L,P226L,P32Q,R144H,R159W,R223W,R280H,R373Q,R489C,R776C,S120N,S184G,S530L,S757N,T113A,T170I,T294I,V358M,V478A,V541L,V867A,V867M" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0" 55034 2668 hgmd1128;dbsnp25054;hgmd0613_1431 NP_005934;NP_005934.2 "A233V,E285K,G152D,G19S,G66S,I355T,L239H,M88I,R144Q,R272W,R339W,S173R,W2C" "0,0,0,0,0,1,0,0,0,0,0,0,0" 4337 4734 hgmd1129;sw1426;dbsnp23266;hgmd0613_2414 NP_789776;MOC2A_HUMAN;NP_789776.1 "V51A,V64G,V7F" "0,0,1" 4338 13203 hgmd112;sw2556;sws287;evn745;dbsnp13701;hgmd0613_20 NP_000027;AMPD1_HUMAN;NP_000027.2 "A285V,A49V,A649T,D624N,E134Q,E42K,E55K,G204D,G607E,I179T,I440M,I677N,I91V,K263E,K320I,M343I,M489L,M489T,M50T,M695I,P268Q,P81L,Q189H,Q357R,R108C,R108H,R112W,R421W,R458C,R458H,R757L,S100F,S557T,T33I,V145M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,1,0,1,0,0,0,0,0" 270 3355 hgmd1130;sw987;evn17;dbsnp9391;hgmd0613_1277 NP_004861;MPU1_HUMAN;NP_004861.2 "A135P,A187V,A229T,A5V,F100L,G225S,G73E,I40T,L119P,L74S,M80R,N161S,P15S,S221C,T113M" "0,0,0,0,0,0,1,0,1,1,0,0,0,0,0" 9526 11970 hgmd1131;sw2945;evn48;dbsnp6911;hgmd0613_933 NP_002426;MPI_HUMAN;NP_002426.1 "D131N,E402Q,G250S,H112P,I140T,I398T,M138I,M138T,M21I,M51T,P4S,Q330R,R152Q,R219Q,R295H,R328W,R418H,S102L,S355C,T307I,T350M,T357A,Y129C,Y255C" "1,0,1,0,1,1,0,1,0,1,0,0,1,1,1,0,1,1,0,0,0,0,1,1" 4351 8075 hgmd1132;sw3102;sws359;dbsnp12855;hgmd0613_1359 NP_005364;TPOR_HUMAN;NP_005364.1 "A58V,E168K,E335K,G238C,G614A,K39N,L265F,P2L,P70L,Q219E,R537Q,S226Y,S505N,V114M,Y252H" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 4352 4739 hgmd1133;pmd863.1;pmd3021.1;pmd3258.1;pmd4463.1;pmd4464.1;sw1693;sws176;evn555;dbsnp8507;hgmd0613_204 NP_000241;PERM_HUMAN;NP_000241.1 "E26K,E67Q,E683Q,E82A,G16E,I640F,I640V,I642L,I717V,M472V,N522S,P523S,R460Q,R548W,R569Q,R569W,R604C,S432I,S65C,V53F,Y173C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1" 4353 3657 hgmd1134;sw3088;evn174;dbsnp19279;hgmd0613_934 NP_002428;MPV17_HUMAN;NP_002428.1 "G79R,N166K,R50Q,R50W,S115P,T80I,V65A" "0,1,1,1,0,0,0" 4358 13430 hgmd1135;pmd251.1;pmd896.1;sw2631;evn189;dbsnp15580;hgmd0613_435 NP_000521;MYP0_HUMAN;NP_000521.2 "A221T,C127Y,D109N,D118N,D128E,D128N,D134E,D134G,D134N,D224Y,D35Y,D60H,D61G,D75V,D90E,E56K,E97V,G103E,G110D,G123C,G137S,G163R,G167A,G167R,G93E,H39P,H81R,H81Y,I112T,I114T,I135L,I135T,I13V,I162M,I30M,I62F,I62M,I89N,I99T,K130R,K138N,K236E,K96E,L170R,N116H,N122S,N131K,P132L,R227S,R244L,R98C,R98H,R98P,R98S,S140T,S44F,S51F,S54C,S54P,S63C,S63F,S78L,S78W,T124K,T124M,T139N,T143M,T34I,T65A,T65I,V113F,V113I,V136E,V146F,V32F,V58F,V92M,W101C,Y119C,Y145S,Y68C,Y82C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1" 4359 11941 hgmd1136;dbsnp17188;hgmd0613_2429 NP_848932;NP_848932.1 "C78W,L170M,N6K,T130I,V50M" "0,0,0,0,0" 56246 13503 hgmd1137;sw3439;sws409;evn999;dbsnp1667;hgmd0613_1398 NP_005582;MRE11_HUMAN;NP_005582.1 "A30P,D41N,D468G,D596H,E49G,E600Q,F13I,H297Q,H356R,I620V,M157V,M698V,N117S,R305W,R503H,R572Q,R604P,S104C,S173G,S273C,S334R,S531F,S533T,T507S,V31A,V429A,V651E" "0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,0,1,0,0,0,0,0,0,0,0,0" 4361 3992 hgmd1138;sw3961;dbsnp21342;hgmd0613_1928 NP_064576;RT22_HUMAN;NP_064576.1 "F70L,H247Q,I95L,L9F,R170H,S313L,T206I" "0,0,0,0,1,0,0" 56945 9408 hgmd1139;sw4035;dbsnp1429;hgmd0613_109 NP_000130;FCERB_HUMAN;NP_000130.1 "E237G,F23L,L193F,L38V,M1R,N211K,S138N,T143M" "0,0,0,0,1,0,0,0" 2206 12026 hgmd113;sw4037;evn789;dbsnp2055;dbsnp2057;hgmd0613_580 NP_001020560;AMPD3_HUMAN;NP_001020560.1;NP_001165901.1 "A320V,A756G,D267N,D95N,F523L,G361S,H240R,I505V,M324T,N279S,N310K,N325S,N767D,P2L,P542L,P585L,Q712P,R185W,R306W,R331C,R356Q,R402C,R468C,R573C,R74G,S482L,V311L,W450R,Y455H,Y455R" "1,0,0,0,0,0,0,0,1,0,1,0,0,0,0,1,1,0,0,1,0,1,0,1,0,0,1,1,0,0" 272 3355 hgmd1140;pmd248.1;sw3210;sws371;spmut1278;dbsnp18316;hgmd0613_205 NP_000242;MSH2_HUMAN;NP_000242.1 "A272V,A2T,A305T,A45V,A600V,A636P,A714V,A870G,C199R,C333Y,C641G,C697F,C697R,C843G,C873G,D167H,D283Y,D506Y,D603N,D646A,D646G,D660G,D748Y,E177H,E198G,E562V,E647K,E749K,E853A,E886G,F19L,F519L,G162A,G164R,G203R,G322D,G40S,G669R,G674A,G674R,G674S,G692R,G759E,H46Q,H610N,H639Q,H639R,H639Y,H839Q,H839R,I145M,I169V,I216V,I577T,I770V,K246Q,K393M,K675A,K845E,K931T,L135F,L173P,L175P,L187P,L390F,L805V,L911R,L93F,M492V,M688I,M779I,M813V,N127S,N139S,N186S,N331D,N583S,N596S,N671Y,N835H,P336S,P349L,P385L,P415A,P415S,P622L,P670L,P696L,P868A,Q419K,Q629R,Q645E,Q824E,Q846R,R106K,R359S,R406Q,R524P,R638G,R96H,S13I,S323C,S323Y,S473L,S554G,S554R,S723F,S860L,T335I,T33P,T44M,T552P,T564A,T807S,T8M,T905R,V102I,V161D,V163D,V163G,V17F,V342I,V470E,V923E,Y165D,Y43C,Y619C,Y98C" "1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,0,0,1,0,0,1,1,1,1,1,1,0,0,1,1,0,0,1,1,1,1,1,1,1,1,0,0,1,1,0,1,1,1,1,0,0,1,1,0,1,1,0,1,1,1,1,0,1,1,1,1,0,1,1,1,0,0,1,1,1,0,1,1,0,0,0,1,0,1,1,1,1,0,1,0,0,1,0,1,0,0,1,1,1,1,0,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1" 4436 2409 hgmd1141;pmd249.2;sw3575;sws431;evn970;dbsnp18079;hgmd0613_144 NP_000170;MSH6_HUMAN;NP_000170.1 "A1021D,A20V,A25S,A25V,A326V,A350S,A787V,C1158R,C615S,D1026Y,D1031V,D1213V,D803G,E1163V,E1193K,E1234Q,E220D,E221D,E619D,F340S,G39E,G54A,G566R,G685A,H1248D,H164P,H785P,I725M,I886V,K13T,K295R,K610N,K728T,K854M,K99N,L1354Q,L290P,L396V,L449P,P1073S,P1087A,P1087S,P1087T,P320S,P623A,P623L,Q522R,Q698E,Q889H,R1076C,R1095H,R128L,R1304K,R1321G,R468H,R644S,R772Q,R772W,R901H,R976H,S285I,S314R,S503C,S580L,S65L,T1100M,T1219I,T1225M,T1243S,T1284M,V1232L,V1260I,V509A,V800A,V800L,V80A,Y538S,Y850C" "0,1,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,0,0,1,0,1,1,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,1,1,0,0,0,0,1,0,0,0,0,0,1,1,0,0,1,1,1,1,0,0,0,0,0,0,0,0,1,0,0,1,0,1,0,0,1" 2956 1047 hgmd1142;sw2496;dbsnp27633;hgmd0613_2274 NP_619729;MSRE_HUMAN;NP_619729.1 "D149Y,D174Y,D283H,D307Y,E105K,F23C,G294E,G369S,H441R,I181V,I54V,I68T,L254V,M118I,P286T,P346L,P36A,Q167H,S41Y,T161N,T269I,V113A" "0,1,0,0,0,0,0,1,1,0,0,0,1,0,0,0,1,0,1,0,0,1" 4481 7566 hgmd1143;evn187;dbsnp22359;hgmd0613_935 NP_002439;NP_002439.2 "A274V,G252S,K194R,S210N,S92P,V86A" "0,0,0,0,0,0" 4487 10790 hgmd1144;sw2996;spmut1281;evn245;dbsnp23460;hgmd0613_936 NP_002440;MSX2_HUMAN;NP_002440.2 "L154P,M129T,N8S,P148H,P248H,R172H,S82P,W189L" "1,0,0,1,0,1,0,0" 4488 10790 hgmd1145;sw1659;dbsnp7797 NP_005937;MT1A_HUMAN;NP_005937.2 "K51R,T27N" "0,0" 4489 14888 hgmd1146;evn188;dbsnp5417;hgmd0613_1432 NP_005947;NP_005947.3 "A18V,A200V,G392W,H201N,I464V,K134R,L769F,N484D,P328L,Q803R,R173C,R366W,R772H,S594R,T194P,T761M,V345I" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 4522 2192 hgmd1147;pmd852.1;pmd4445.1;sw3195;evn1104;dbsnp13463;hgmd0613_1433 NP_005948;MTHR_HUMAN;NP_005948.3 "A650V,E423D,E470A,E470Q,E470V,E586K,G387D,G422R,G566E,H213R,H263P,L323P,L643V,N324S,N542T,P251L,P572L,R157Q,R325C,R335C,R357C,R377C,R519C,R519H,R519L,R51P,R52Q,R68Q,S430R,T227M,T653M,W339G" "0,0,0,0,0,1,1,0,0,0,0,1,0,1,0,1,1,1,1,1,1,1,0,0,0,1,1,0,0,1,0,1" 4524 4521 hgmd1148;pmd252.1;pmd253.1;sw4514;spmut1286;evn223;dbsnp30620;hgmd0613_206 NP_000243;MTM1_HUMAN;NP_000243.1 "A141V,A279G,A389D,A577T,C444Y,D431N,D433N,E157K,E404K,G378E,G378R,G402A,G402R,G402V,H232R,H374D,H469P,I225T,I264S,K351R,K510N,L202S,L228P,L391P,L406P,L470P,L70F,L87P,M317R,N180K,N189S,N481Y,P179S,P199S,P205L,P226T,R184G,R184L,R241C,R241L,R421Q,R69C,R69P,R69S,S229P,S376N,S80A,T186I,T197I,T22P,T32P,V227M,V263I,V364G,V49F,W230C,W346C,W346S,W411C,W499R,Y198N,Y397C,Y68D" "0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1" 4534 4431 hgmd114;sw3353;evn832;dbsnp21113;hgmd0613_390 NP_000472;GCST_HUMAN;NP_000472.2 "A238V,A51V,D276H,G269D,G47R,H42R,I247L,M300V,N145I,R24H,R315K,R320H,R34H,R382Q,S234L,V321M" "0,0,1,1,1,1,0,0,1,0,0,1,0,0,0,0" 275 8514 hgmd1150;sw4547;spmut1287;evn398;dbsnp1458;hgmd0613_1791 NP_057240;MTMR2_HUMAN;NP_057240.3 "A259G,A602G,E446K,E502Q,I281V,I581V,K3T,L548A,N133S,N160S,N545S,R119G,R119W,R283W,R586Q,S429A,S619P,T52A,V44I" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 8898 4431 hgmd1151;pmd229.1;pmd848.1;sw3311;dbsnp22151 NP_005949;MTR1A_HUMAN;NP_005949.1 "A266V,G120S,G166E,G96D,I212T,K334N" "0,0,0,0,0,0" 4543 9357 hgmd1152;sw9500;evn948;dbsnp13483;hgmd0613_208 NP_000245;METH_HUMAN;NP_000245.2 "A1113T,A381T,C255Y,D314N,D621G,D919G,E672K,F207L,G939R,H920D,I1259V,I661T,L5I,M495I,N1222S,N23D,N668S,N706S,P1173L,P347S,P749S,R1027W,R1164H,R52Q,R61K,R674C,T1076M,V229I,V248M,V345I" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 4548 1241 hgmd1153;dbsnp22899;hgmd0613_937 NP_002445;NP_002445.2 "A515V,H558N,H595Y,H661R,I290T,K350R,L333V,P247S,P450R,R415C,R485Q,R691C,S175L,S257T,T286M,T490A,T60A,V341I,V607I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4552 3832 hgmd1154;pmd234.1;sw3685;spmut1292;evn578;dbsnp21708;hgmd0613_207 NP_000244;MTP_HUMAN;NP_000244.2 "A180D,D384A,E354Q,E98D,G49E,G661S,G746E,H297Q,I128T,I186V,K184N,K879R,L811F,M84I,N140S,N166S,N404S,N780Y,P625L,P886L,Q244E,Q95H,R309Q,R46G,R46W,R540H,S590I,S715C,S774A,T123A,T432I,T505A,V168I" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0" 4547 2639 hgmd1155;sw534;sws51;dbsnp28415;hgmd0613_1399 NP_005583;MUSK_HUMAN;NP_005583.1 "A27G,A727V,E782D,G107E,I133T,K408R,L629F,M413I,M605I,N222S,N664S,P694S,P696L,R216Q,R858H,S159G,T100M,V644A,V790M,V829L,Y397H,Y600H" "0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0" 4593 2776 hgmd1156;sw2511;evn671;dbsnp24273;hgmd0613_209 NP_000246;MUTA_HUMAN;NP_000246.2 "A137V,A191E,A197E,A324T,A377E,A499T,A535P,A664V,C560Y,D156N,D554E,D640Y,F174S,F573S,F638I,G145S,G158V,G203R,G215C,G215S,G291E,G312V,G426R,G427D,G626C,G630E,G637E,G637R,G642R,G648D,G703R,G717V,G87E,G94R,G94V,H265Y,H350Y,H386N,H627R,H678R,I372T,I671V,I69V,K621N,L281S,L305S,L328F,L328P,L347R,L518P,L617R,L685R,M186V,M375I,M700K,N189K,N219Y,N388H,P615R,P615T,P86L,P95R,Q109R,Q218H,Q293P,Q293R,Q29R,Q383H,Q383P,Q624R,R108C,R108G,R108H,R228Q,R369C,R369H,R532H,R532P,R588C,R588L,R616C,R694W,R93H,S148L,S262N,S306F,T230I,T370P,T566R,T598A,V368D,V633G,V669E,W105R,Y231N,Y279C,Y316C,Y587C" "1,1,1,1,1,0,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1" 4594 3606 hgmd1157;evn1055;dbsnp13947 NP_001041636;NP_001041636.1 "A359V,G307R,G489E,H421R,L406M,L515M,Q300R,Q324H,R260Q,R297K,R412C,R520Q,S501F,V22M,V76I" "0,0,0,0,0,0,0,0,1,0,1,0,0,0,0" 4595 5862 hgmd1158;pmd854.1;pmd855.1;pmd856.1;pmd2306.1;pmd4446.2;sw4127;evn683;dbsnp4024;dbsnp4025;hgmd0613_356 NP_000422;KIME_HUMAN;NP_000422.1;NP_001107657.1 "A148T,A334T,G171R,G202R,G211E,G309S,G326R,G335S,G376V,H20N,H20P,H20Q,I268T,L264F,L265P,L265R,L292V,L39P,N301T,P167L,R215Q,S135L,S150L,S52N,T243I,T356M,T72A,V132I,V250I,V310M,V377I" "1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,0,0,1,1,1,1" 4598 8655 hgmd1159;evn758;dbsnp3903;hgmd0613_938 NP_002456;NP_002456.2 "A430V,D159E,G657E,H506Q,P19S,P486Q,Q467E,R1035K,R417K,R586W,R597Q,S585C,T66P,V610I,V64A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4604 1498 hgmd115;pmd319.2;pmd1707.1;pmd1792.1;pmd2410.1;pmd2411.1;pmd2751.1;pmd3369.1;pmd3370.1;pmd3371.1;pmd3835.2;pmd3836.1;pmd3981.1;pmd4498.2;sw1609;spmut95;evn1102;dbsnp5421;dbsnp5422;hgmd0613_700 NP_001136;ANGI_HUMAN;NP_001091046.1;NP_001136.1 "C63W,D47H,F12S,H138R,I70V,K41E,K41I,K64I,K84E,P136L,P20S,Q36L,R55K,S52N,V137I" "1,0,1,1,1,1,1,1,0,1,1,1,1,1,1" 283 13965 hgmd1160;dbsnp2016;hgmd0613_210 NP_000247;NP_000247.2 "A259V,A522T,A833V,E872K,G440D,L383V,L804M,N515S,Q1103H,R1002W,R1048C,R1138H,R1190H,R281Q,R326Q,R382W,S236G,T1075S,T688K,V158M" "0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 4607 1216 hgmd1161;sw1640;evn793;dbsnp19540;hgmd0613_1360 NP_005369;MYCN_HUMAN;NP_005369.2 "A207T,A227S,P365A,R393H,R393S,R394H,T6A" "0,0,0,1,1,1,0" 4613 7315 hgmd1162;evn873;dbsnp20053;hgmd0613_939 NP_002459;NP_002459.2 "G20A,L87M,P11Q,P12T,Q80H,V27I" "0,0,0,0,0,0" 4615 10487 hgmd1163;sw2569;evn705;dbsnp4318;hgmd0613_940 NP_002460;MYF6_HUMAN;NP_002460.1 "A112S,A206T,A90D,I208L,I208M,R143Q,R150Q,S166N,T182P,V27M,W187R" "1,0,1,0,0,0,0,0,0,0,0" 4618 12071 hgmd1164;sw3021;evn201;dbsnp7754;hgmd0613_945 NP_002465;MYH11_HUMAN;NP_002465.1 "A1104T,A1202T,A1234T,A1414T,A692V,A965S,D1223E,D1962G,D510N,E1833D,E1861K,E1892D,F1067Y,G1393R,H1365R,H1802Q,I1854V,I578V,K1256Q,K73Q,L1317I,L131V,M1197T,M1508V,Q1556H,R1535Q,R1535W,R1665L,R1758Q,R1798Q,R1862H,R247C,R296K,R501H,R669C,S1843L,S339R,S883L,T1187A,T1558M,T1841A,T1934S,T1958M,T886A,V1289A,V1292L,V1310M,V1759I,V330L,V360I,V774I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4629 432 hgmd1165;sw6667;evn64;dbsnp10961;hgmd0613_2086 NP_079005;MYH14_HUMAN;NP_079005.3 "A1026S,A1154V,A1209E,A1386T,A1973T,A907T,G1170S,G376C,H326Q,H587Q,I266V,I281M,L1276S,L976F,M161I,M958L,N1559S,P334A,Q1092H,Q1455E,Q1724A,Q1977E,Q984R,R1378W,R1381H,R1527Q,R1817H,R726S,R88Q,R933L,S1146A,S120L,S337C,S358T,T1320A,T1683S,T926K,V1540I,V1633M,Y284D" "0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,1,0,0,0,0,0,0,0,0" 79784 405 hgmd1166;sw11502;evn978;dbsnp9468;dbsnp9469;hgmd0613_1826 NP_060004;MYH2_HUMAN;NP_001093582.1;NP_060004.3 "A111V,A1460G,A41V,A581S,A627T,A899E,D892E,E1103V,E706K,E889K,G417S,I210V,I757T,I817V,L1061V,L1592M,L476F,L893M,M1435T,Q1010R,Q1069H,Q622H,R1285H,R1295H,R1528H,R1705G,R1787W,R1838H,R1927Q,S1043A,S1228N,S1305T,S424T,T1243M,T594G,T994I,V350G,V970I" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 4620 434 hgmd1167;sw2024;evn979;dbsnp9003;hgmd0613_941 NP_002461;MYH3_HUMAN;NP_002461.2 "A1003V,A1007T,A1192T,A1198T,A1244V,A1361V,A1413T,A1637V,A1749G,A1752S,A1752T,C1341G,D1622A,D1887G,D42N,D517Y,E138D,E375K,E498G,E856D,G1354A,G1829A,G769V,H492Y,K51E,K571R,K838E,L428F,M1189T,Q56E,R1046Q,R1137C,R1304S,R1797H,R672C,R672H,R781H,S1138R,S1270C,S1367T,S261F,S292C,T1024I,T1160M,T1252M,T1313I,T178I,T938M,V41G,V825D,Y471H,Y583S" "0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,1,0,1,1,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,1,1,0,0,0,0,1,1,0,0,0,0,1,0,0,1,0,1" 4621 434 hgmd1168;sw2125;dbsnp5442;hgmd0613_942 NP_002462;MYH6_HUMAN;NP_002462.2 "A1004S,A1130T,A1327V,A336G,A386T,A936S,A964S,D208N,D377E,D588A,E1295Q,E1457K,E88Q,E98K,G56R,I275N,I507T,I820N,L783M,P830L,Q1065H,Q1593L,Q1804K,Q277H,R1398Q,R1477H,R1502Q,R1532L,R1636C,R1714W,R1820W,R29Q,R568C,R721W,R779W,R795Q,R860H,S1067G,S1734L,T1379M,T1737S,V1101A,V1613A,V691I" "1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0" 4624 434 hgmd1169;pmd477.1;sw2109;dbsnp5455;hgmd0613_211 NP_000248;MYH7_HUMAN;NP_000248.2 "A1124S,A1128T,A1263E,A1379T,A1454T,A1663P,A1777T,A196T,A223T,A26V,A355T,A385V,A428V,A430E,A550V,A728V,A742E,A797T,A901G,C905F,D107E,D376E,D3A,D587V,D778E,D778G,D778V,D906G,D928N,D953H,E1218Q,E1356K,E1426K,E1555K,E1753K,E1768K,E1883K,E328G,E466Q,E483K,E499K,E500A,E743D,E774V,E846Q,E894G,E921K,E924K,E924Q,E927K,E930K,E931K,E935K,E949K,F244L,F312C,F513C,F764L,G1057D,G1057S,G256E,G407V,G425R,G571R,G584R,G584S,G716R,G733E,G741W,G768R,G823E,H1901L,H576R,I201T,I263M,I263T,I443T,I511F,I511T,I736M,I736T,K1459N,K146N,K1919N,K207Q,K351E,K365N,K383N,K450E,K450T,K502N,K615N,K615Q,L1135R,L1297V,L1414M,L1706P,L227V,L390V,L517M,L601V,L796F,L908V,M349T,M435T,M515R,M515V,M659I,M822L,M822T,M852T,M877K,M982T,N1327K,N187K,N232S,N479S,N602S,N696S,P211L,P731L,Q222K,Q595R,Q734E,Q734P,Q882E,R1193S,R1382W,R1420W,R143G,R143Q,R143W,R1475C,R1500P,R1634C,R1712W,R1845W,R1846C,R1846G,R190T,R204H,R249Q,R403L,R403Q,R403W,R442C,R453C,R453H,R663C,R663H,R663S,R671C,R694C,R694H,R712L,R719Q,R719W,R723C,R723G,R787C,R787H,R858C,R858H,R869C,R869G,R869H,R870C,R870H,S148I,S1491C,S1519C,S1776G,S532P,S642L,S782N,T1019N,T124I,T1377M,T1513S,T1854M,T188N,T1929M,T412N,T441M,V1044A,V1432I,V1692M,V186L,V320M,V39M,V404L,V404M,V406M,V411I,V440M,V59I,V606M,V698A,V763G,V763M,V824I,V964L,Y115H,Y162C,Y501C" "0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1" 4625 434 hgmd116;sw11928;evn463;dbsnp15312;hgmd0613_1693 NP_055310;ANGL3_HUMAN;NP_055310.1 "D184G,F26L,H239R,I199T,I277V,L127F,M259T,N371S,N371T,N418Y,N76K,S292P" "0,0,0,0,0,0,0,0,0,0,0,0" 27329 7397 hgmd1170;sw2126;evn891;dbsnp8791;hgmd0613_943 NP_002463;MYH8_HUMAN;NP_002463.2 "A1130S,A1335T,A144P,A1705T,A1820V,A282V,A636V,D1605N,E1261G,E1348K,E1353Q,E1387Q,E1838A,E924G,I1022T,I1383V,I326T,I716N,K1357R,K1460R,K46R,L1515I,L1684Q,M1229T,M93V,N107S,P102A,Q318H,R1178C,R1253C,R1563H,R1595T,R1752H,R1784G,R193H,R674Q,R75S,S48F,T1185S,T1231I,T1500M,T180I,T356I,V1575G,V1596I,V1822I,V673I,V894I,W1692R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 4626 434 hgmd1171;sw3004;sws341;evn202;dbsnp17512;hgmd0613_944 NP_002464;MYH9_HUMAN;NP_002464.1 "A1436V,A1611T,A1659T,A1695V,A1732V,A1939T,A936T,A958T,A95T,D1409N,D1424H,D1424N,D1424Y,D1515N,D1634E,D1925E,E1841K,E1899G,E1946K,E1955D,E1960K,E271D,G1715S,G1940R,G1942C,I1626V,I1816V,I310V,K1555R,K1676E,K1775E,K1793R,K1957N,K373N,K910Q,L46F,L983M,M1651T,M547V,N93K,Q3E,Q3K,R1165C,R1165L,R1342W,R1400W,R1466W,R1576Q,R617H,R702C,R702H,R705H,S1114P,S1154T,S1290T,S1326G,S1435T,S96L,T1009M,T1155I,T1504M,V1847M,V1930M,V924A,V967E" "0,0,0,0,0,0,0,0,1,0,1,1,1,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,1,0,0,1,0,1,0,0,1,1,0,1,0,0,0,1,1,1,1,0,0,0,0,1,0,1,0,0,0,0,0" 4627 432 hgmd1172;pmd865.1;sw2020;hgmd0613_357 NP_000423;MLRV_HUMAN "A13T,D166V,E22K,F18L,G57R,P95A,R58Q" "1,1,1,1,0,1,1" 4633 12417 hgmd1173;sw1847;dbsnp21413;hgmd0613_212 NP_000249;MYL3_HUMAN;NP_000249.1 "A2P,E143K,E56G,M149V,R154H" "0,1,1,1,1" 4634 12791 hgmd1174;sw10137;sws1129;dbsnp16426;hgmd0613_2203 NP_149109;MYLK2_HUMAN;NP_149109.1 "A2T,A58D,A593V,A87V,A95E,E170K,G142V,G222R,G64A,G89D,K324N,N278K,P144A,P264T,T418I" "0,0,0,1,1,0,0,0,0,0,0,0,0,0,0" 85366 5179 hgmd1175;sw11487;dbsnp8679;hgmd0613_1797 NP_057323;MYO15_HUMAN;NP_057323.3 "A2490T,A3250V,A510T,A595T,C1977R,E518K,G2018R,G462D,I1345L,I2113F,L1559F,L3160F,M3453T,M463V,N2111Y,N3252D,P1289L,P273H,P371T,P894S,Q2716H,Q2949H,R1965H,S84T,T2205I,V2266M,V485A,W718G,Y2682F" "0,0,0,0,0,0,0,0,0,1,0,1,0,0,1,0,0,0,0,0,1,0,0,0,1,1,0,0,0" 51168 101 hgmd1176;sw11226;evn770;dbsnp3723;dbsnp3724;hgmd0613_1361 NP_005370;MYO1A_HUMAN;NP_005370.1;NP_001242970.1 "A79S,A79T,C506S,E1009A,E102K,E126K,E17Q,E266Q,E385D,F600L,G674D,I678F,K1032T,K781E,L188V,L228V,L532S,M895T,N903S,P426L,R220Q,R447Q,R628C,R628G,R639Q,R768W,R985Q,S286N,S797F,S910P,T996I,V306M,V943G" "0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,1,0" 4640 1598 hgmd1177;dbsnp6466 NP_000250;NP_000250.3 "M627T,P1453S,R1015Q,R1246C,R1320S,R609C,S1673L,V1601G,V1689I" "0,0,0,1,0,0,0,0,0" 4644 521 hgmd1178;sw11569;spmut1306;evn1011;dbsnp10396;hgmd0613_636 NP_001073936;MYO5B_HUMAN;NP_001073936.1 "A1440S,C10G,D1011N,D66A,E1447D,E418D,E49Q,G1321E,H552P,H785R,H879R,K307N,K781N,K942R,L59P,M1688V,N1100K,N1192D,P598L,R219H,R56C,R615C,R656C,R829H,R911L,R918H,R932W,T126A,T1382M,T956P,V108G,V1703A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,1,0" 4645 521 hgmd1179;evn377;dbsnp25448;hgmd0613_1297 NP_004990;NP_004990.3 "A342V,A369T,D1031H,D1031Y,D382N,D879N,E1052D,E159K,I31T,K1188R,K993R,L1064Q,L292S,M18V,N873D,Q870R,R1160Q,R1177C,R1177H,R946C,S1282N,T845I,T880A,Y300C,Y374H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4646 1175 hgmd117;sw9849;dbsnp11068;hgmd0613_2292 NP_647475;ANGL4_HUMAN;NP_647475.1 "D338E,E167K,E190Q,E196K,E296V,E40K,F237V,G233R,G361R,G361S,G77R,L293M,M41I,P174S,P251T,P307S,P5L,R230C,R278Q,R336C,R371Q,R384W,R72L,S67R,T266M,V291M,V308M,W349C" "0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,1,1,1,0,0,0,0,0,1" 51129 8453 hgmd1180;sw9546;spmut1307;dbsnp13650;hgmd0613_214 NP_000252;MYOC_HUMAN;NP_000252.1 "A17S,A363T,A427T,A445V,C245Y,C25R,C433R,C9S,D208E,D380A,D380G,D380H,D380N,D77E,E261K,E300K,E323K,E352K,E414K,F212V,F369L,F4S,G12R,G244V,G246R,G252R,G364V,G367R,G399V,G434S,I345M,I360N,I465M,I477N,I477S,I499F,I499S,K398R,K423E,K500R,L215P,L303I,L95P,N420Y,N450D,N480K,N57D,N73S,P16L,P274R,P361S,P370L,P481L,P481T,Q19H,Q337E,Q337R,Q48H,R126W,R147Q,R158Q,R189Q,R272G,R342K,R422C,R422H,R470C,R470H,R76K,R82C,R82H,S203F,S341P,S393N,S393R,S425P,S502P,T293K,T353I,T377K,T377M,T438I,T448P,V251A,V329M,V402I,V426F,V495I,V53A,W286R,W28S,Y437H,Y471C,Y473C" "0,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,0,0,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,0,1,1,0,0,1,0,0,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,0,1,1,0,1,1,0" 4653 6574 hgmd1181;dbsnp23474;hgmd0613_1540 NP_006781;NP_006781.1 "A115T,E149Q,E497D,G470D,N108T,Q50R,R178H,R455Q" "0,0,0,0,0,0,0,0" 9499 6695 hgmd1182;sw10609;evn685;dbsnp22281;hgmd0613_1809 NP_057683;MYOZ2_HUMAN;NP_057683.1 "D254G,D255N,H49R,I246M,L163S,M8V,P236L,S101L,S48P" "0,0,0,1,0,0,0,0,1" 51778 11594 hgmd1183;sw6790;evn819;dbsnp518;dbsnp520;hgmd0613_2172 NP_115967;MYPN_HUMAN;NP_115967.2;NP_001243196.1 "A1141T,A22G,A238E,A245G,F628L,G56A,I158T,I840V,N698T,P1135T,P1273L,P680A,P743L,P816L,R1042C,R1278Q,R1312W,R338C,R377Q,R597H,R919C,R955W,R996Q,S1282R,S691N,S707N,S803R,T620A,T705I,T746A,V393A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84665 1130 hgmd1184;pmd3264.1;sw2315;spmut1314;evn656;dbsnp17806;hgmd0613_215 NP_000253;NAGAB_HUMAN;NP_000253.1 "A337T,C343R,D94N,E325K,L263I,Q53R,R329Q,R329W,R381Q,R97G,S160C,T161I" "0,0,0,1,0,0,1,1,0,0,1,0" 4668 8353 hgmd1185;sw3658;evn374;dbsnp8589;hgmd0613_216 NP_000254;ANAG_HUMAN;NP_000254.2 "A246P,A480T,A57G,A627V,A664V,C277F,E153K,E446K,E452K,E705K,F314L,F410S,F48C,F48L,G292R,G412E,G650E,G69S,G79C,G79S,G82D,H100R,H227P,H248R,H356P,H414R,I154R,L242P,L280P,L35F,L560P,L561R,L591P,L617F,L682R,P115S,P243L,P358L,P516L,P521L,R130C,R228Q,R234C,R38W,R482Q,R482W,R520W,R565P,R565Q,R565W,R643C,R643H,R674C,R674H,R676P,R737G,R737S,S141T,S449N,S534Y,S612G,T437I,V241M,V334F,V501G,V683A,V77G,W156C,W268R,W474G,W649C,Y140C,Y309C,Y335C,Y455C,Y658F,Y92H" "1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1" 4669 3672 hgmd1186;sw11453;evn282;dbsnp7736;hgmd0613_1799 NP_057340;NAGPA_HUMAN;NP_057340.2 "A271V,A501T,E223K,G356S,G440A,L430F,N214S,N58S,Q197H,R328C,R328H,R425G,S28L,T465I" "0,0,0,0,0,0,0,0,0,1,0,0,0,0" 51172 6388 hgmd1187;sw7344;evn262;dbsnp9952;hgmd0613_2352 NP_694551;NAGS_HUMAN;NP_694551.1 "A206E,A279P,A518T,C200R,D406N,L430P,R85T,S410P,W484R" "0,1,1,1,0,1,0,1,1" 162417 6066 hgmd1188;sw916;sws102;spmut1318;dbsnp27387;hgmd0613_946 NP_002476;NBN_HUMAN;NP_002476.2 "D469Y,D95N,E185Q,E564K,E628K,I171V,I439M,K105N,K408E,L150F,L489V,L574I,N142S,N716D,P266L,P672L,Q216K,R169C,R215W,S93L,T452P,T497A,V210F" "0,1,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,1,1,0,0,1" 4683 3573 hgmd1189;sw2183;evn480;dbsnp27155;hgmd0613_218 NP_000256;NCF1_HUMAN;NP_000256.3 "A308V,C98G,E168K,G262S,G83R,G99S,K258E,N166D,R42Q,R90H,T100M,T160S" "0,0,0,1,0,0,0,0,1,0,0,0" 653361 8791 hgmd118;evn810;dbsnp27367;hgmd0613_21 NP_000028;NP_000028.3 "M1738T,R1872Q,S826G" "0,0,0" 286 489 hgmd1190;pmd867.1;pmd4257.2;sw2420;dbsnp13710;dbsnp13711;hgmd0613_358 NP_000424;NCF2_HUMAN;NP_000424.2;NP_001121123.1 "A128V,A140D,A202V,D108V,D518H,D93E,G369R,G44C,G44R,G78E,H389Q,K181R,M79V,N419I,N42S,N448D,P313L,P454S,Q169E,R102P,R184P,R188K,R328K,R386Q,R38Q,R395Q,R66Q,R77Q,T279M,T361S,V297A,W137R" "1,1,1,1,0,1,0,1,1,1,0,0,0,1,1,0,0,0,1,1,1,0,0,0,0,0,0,1,0,0,0,1" 4688 6188 hgmd1191;dbsnp17481;hgmd0613_1648 NP_038202;NP_038202.2 L272P 0 4689 9698 hgmd1192;sw4013;spmut1333;evn857;dbsnp29672;hgmd0613_219 NP_000257;NDP_HUMAN;NP_000257.1 "A105T,A118D,A63D,C110G,C110R,C126S,C128R,C39R,C55R,C65W,C65Y,C69S,C95F,C95R,C96W,C96Y,D23E,F89L,G112E,G67E,G67R,H42R,H43Q,H43R,I123N,I18K,I31K,I31V,K104N,K104Q,K54N,K58N,L103V,L108P,L124F,L13R,L16P,L61F,L61I,L61P,P98L,R115L,R121G,R121L,R121Q,R121W,R38C,R41K,R64M,R74C,R90C,R90P,R97P,S101F,S75C,S75P,S92P,V45E,V45M,V60E,Y120C,Y44C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1" 4693 14195 hgmd1193;sw558;sws54;dbsnp29709;hgmd0613_1222 NP_004532;NDUA1_HUMAN;NP_004532.1 "G8R,R37S" "1,1" 4694 14874 hgmd1194;sw11096;evn55;dbsnp11167;hgmd0613_1779 NP_057049;NDUAD_HUMAN;NP_057049.5 "A2G,K5N,K7N,L25W,L71M,L91M,M10T,R115P,R59H,T144M,T42N" "0,1,0,0,0,0,0,1,0,0,0" 51079 14023 hgmd1195;sws427;dbsnp29420;hgmd0613_1667 NP_055037;NDUA8_HUMAN;NP_055037.1 "F97L,M44V" "0,0" 4702 13504 hgmd1196;sw11821;evn171;dbsnp6363;hgmd0613_1784 NP_057097;CIA30_HUMAN;NP_057097.2 "A171V,A314G,E176K,I186M,I298M,I91M,K278R,L321F,L96H,M236I,Q231R,R213H,R31L,R9H,T233M,V123A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51103 10212 hgmd1197;dbsnp23571;hgmd0613_2401 NP_777549;NP_777549.1 G151S 0 91942 13554 hgmd1198;sw9694;evn261;hgmd0613_2477 NP_951032;NDUF3_HUMAN;NP_951032.1 "D100E,G77R,R122P" "0,1,1" 25915 13275 hgmd1199;sw11093;spmut1336;evn467;dbsnp25195;hgmd0613_1664 NP_054884;NDUF4_HUMAN;NP_054884.1 "K111E,K66R,L14I,L65P,R20Q,R56C" "0,0,0,1,0,0" 29078 13453 hgmd119;sw4040;sws485;spmut97;evn706;dbsnp21720;hgmd0613_708 NP_001139;ANK2_HUMAN;NP_001139.3 "A1744D,A2336V,A2423T,A2948G,A3021T,A3167T,A3208V,A3251T,A3339E,A3380T,A571V,C1647Y,C3687S,D3155E,D3275E,D3865G,E1458G,E2378K,E3016K,E3430A,E3831D,E3931K,F3297S,G2212S,G3456A,G3822A,H1925P,H377Y,I2285T,I2964M,I2964V,I2993M,I3285T,K2076N,L1669P,L2056I,L2854S,L3740I,L489R,N2916T,N687S,P2383L,P2835S,P3305L,Q2324E,R1582Q,R1582W,R2069H,R2466H,R2511Q,R2747S,R321Q,R3820Q,R3842Q,R3842W,R3906W,S2104T,S2785L,S3096G,S3300R,S3323G,S3909P,T1437M,T1832I,T3024A,T3152A,T3308S,T3744N,T3781A,T3858I,V1791I,V1845L,V2369A,V3186L,Y2611H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 287 79 hgmd11;sw1277;evn905;dbsnp18301;hgmd0613_1105 NP_003733;ABCBB_HUMAN;NP_003733.2 "A570T,A865V,A926P,C336S,D36E,D482G,D676H,D676Y,E1186K,E186G,E297G,F971L,G1004D,G238V,G855R,G982R,I206V,K461E,M677L,M677V,R1050C,R1128H,R1153C,R1268Q,R169H,R299K,R415Q,R432T,R616G,R698H,R958Q,S1008P,S143T,S56L,S56P,S748N,T619A,T923P,T965S,V284A,V284L,V444A,V444D,V444G,V600A" "1,0,1,1,0,1,0,0,0,1,1,0,1,1,1,1,0,1,0,0,1,1,1,1,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0" 8647 1125 hgmd1200;sw2712;evn677;dbsnp18326;hgmd0613_1300 NP_004997;NDUS1_HUMAN;NP_004997.4 "D252G,D527G,G12V,I172V,I177V,K543R,L354H,L431V,L452F,L452I,L526F,M204T,M502R,M632I,M632V,R241Q,R241W,R276C,R417S,S332T,T441R,V307I,V506I,V534M,V649F" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 4719 3690 hgmd1201;sw975;evn36;dbsnp14416;hgmd0613_1226 NP_004541;NDUS2_HUMAN;NP_004541.1 "H380D,I80M,P20A,P20T,P229A,P229Q,P352A,Q234H,R228Q,R323Q,S413P,V320A" "0,0,0,0,0,1,0,0,1,1,1,0" 4720 7339 hgmd1202;sw1025;evn3;dbsnp2637;hgmd0613_1227 NP_004542;NDUS3_HUMAN;NP_004542.1 "D262E,P249Q,V159L" "0,0,0" 4722 11595 hgmd1203;dbsnp24082;hgmd0613_1229 NP_004544;NP_004544.1 A18V 0 4726 14341 hgmd1204;sw973;dbsnp11166;hgmd0613_2063 NP_077718;NDUS7_HUMAN;NP_077718.3 "A49G,P23L,V122M" "0,0,1" 374291 12669 hgmd1205;sw300;evn846;dbsnp2455;hgmd0613_951 NP_002487;NDUS8_HUMAN;NP_002487.1 "A200T,D47Y,M41L,M8V,P79L,P7T,R102H,R2C,R2H" "0,0,0,0,1,0,1,1,0" 4728 12735 hgmd1206;sw3429;evn634;dbsnp1604;hgmd0613_1572 NP_009034;NDUV1_HUMAN;NP_009034.2 "A341V,A366S,E214K,G188D,I76V,L139V,N277Y,R359C,T423M" "1,0,1,0,0,0,0,0,1" 4723 7316 hgmd1208;evn268;dbsnp10709;hgmd0613_1741 NP_056092;NP_056092.2 "D15N,D160E,D165E,E16Y,G288S,G351A,I330V,L12F,N413S,P8S,S233L,S327N" "0,0,0,0,0,0,0,0,0,0,0,0" 23327 2211 hgmd1209;sw1759;dbsnp27346;hgmd0613_1362 NP_005373;NFM_HUMAN;NP_005373.2 "A144T,A596D,E531K,E703D,E901D,G845V,G866E,G91S,I800L,K721R,K809E,P439T,P616L,S558F,T199S,V482I,V622M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4741 2515 hgmd120;sw10540;evn1094;dbsnp23758;hgmd0613_2227 NP_473368;ANKH_HUMAN;NP_473368.1 "A413T,C331R,E462D,E479D,G389R,K214R,K395T,L334V,M48T,N317S,P226L,P5L,P5T,R187Q,V485M,V99I,W292R" "0,1,0,0,1,0,0,0,1,0,0,1,1,0,0,0,1" 56172 6804 hgmd1210;pmd276.2;pmd362.2;pmd363.3;pmd1106.1;pmd1107.1;sw9456;spmut1348;dbsnp25175;hgmd0613_359 NP_000425;NEUR1_HUMAN;NP_000425.1 "A141V,A298V,F260Y,G219A,G21D,G227R,G243R,G328S,G68V,G88A,L231H,L270F,L270P,L363P,L91R,P316S,P335Q,P80L,R225P,R294S,R341G,R357Q,R78C,S182G,V217M,V54M,W240R,Y370C" "0,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1" 4758 8271 hgmd1211;dbsnp18890;hgmd0613_952 NP_002491;NP_002491.2 "A306V,P197H,P204S,P86L,R344Q" "0,0,0,0,0" 4760 8944 hgmd1212;sw11912;dbsnp538;hgmd0613_1977 NP_066279;NGN3_HUMAN;NP_066279.2 "F199S,G167R,L61F,R107S,R19L,R93L" "0,0,0,1,0,1" 50674 12647 hgmd1213;sw4305;evn719;dbsnp13368;hgmd0613_2298 NP_653174;NEXN_HUMAN;NP_653174.3 "A571T,E59D,G245R,G563A,M133I,P611T,Q112P,Q131E,R262Q,R279C,R335K,S241P,Y652C" "0,0,0,0,0,1,0,1,0,1,0,0,1" 91624 4315 hgmd1214;evn29;dbsnp8951;hgmd0613_220 NP_000258;NP_000258.1 "A2383T,A2511V,A2V,A670T,A742S,A797V,A887T,C454Y,D2444G,E1089K,F627L,G663R,H2459Y,H2670Y,H389R,H588Q,I1658V,I1698V,I322T,I460V,I634V,K1579R,K286R,K660R,K77R,L2745V,L626F,L658V,L731F,M2538V,N1054H,N1229S,N1338S,N2759I,N292S,N697S,P1328Q,P2289L,P678L,S1124N,S1312A,S1476F,S2463N,S2463T,S665F,S674R,S947A,T123A,T2470N,T2470S,V1686I,V2450I,V2490L,V2778I,Y1401H,Y80S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 4763 169 hgmd1215;pmd851.1;pmd1102.4;sw2963;sws333;spmut1218;evn120;dbsnp17812;hgmd0613_221 NP_000259;MERL_HUMAN;NP_000259.1 "A433T,A476T,A557S,A585T,C133R,E106G,F62S,G197C,G569S,G570A,I273F,I501V,K364I,K413E,K533T,K579M,K79E,L117I,L141P,L234R,L339F,L360P,L46R,L535P,L539H,L64P,M205V,M363L,M484T,M529L,M77V,N220Y,P482L,P496S,P496T,Q344H,Q538P,R351H,R418C,R447K,S156T,S566T,T352M,V219M" "0,0,0,0,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,0,0,0,0,1,0,1,0,0,0,1,1" 4771 5191 hgmd1216;sw2645;spmut948;evn459;dbsnp6013;hgmd0613_1947 NP_065390;IKBA_HUMAN;NP_065390.1 "E302K,G194A,P137S,P170Q,R264Q,R314H,S32I,S63A,T185M,T316M" "0,0,0,0,0,0,1,0,0,0" 4792 10464 hgmd1217;sw1496;evn942;dbsnp12861;hgmd0613_954 NP_002497;NGF_HUMAN;NP_002497.2 "A35V,A47S,A47V,I16T,P112R,R221W,R80Q,R83C,R95H,R95P,S124T,V72M" "0,0,0,0,0,1,0,0,0,0,0,0" 4803 12091 hgmd1218;sw10424;dbsnp19219;hgmd0613_2091 NP_079058;NHEJ1_HUMAN;NP_079058.1 "A14T,A87T,C123R,H89R,N187S,Q256L,R57G,R57Q,R81H" "0,0,1,0,0,0,1,0,0" 79840 10874 hgmd1219;sw6321;spmut1360;evn18;dbsnp25164;hgmd0613_2471 NP_940988;NHLC1_HUMAN;NP_940988.2 "A11E,A247V,C160R,C26S,C68Y,D146N,D233A,D245N,D308A,E280K,E67Q,F33S,I153M,I198N,L126P,L279P,L87P,L97F,M16V,N184S,N227K,P264H,P69A,Q302P,R253K,S22R,S364L,T115I,V141A,W219R" "0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1,1,0,0,0,1" 378884 8677 hgmd121;sw4854;evn716;dbsnp817;hgmd0613_1688 NP_055206;ANKR1_HUMAN;NP_055206.2 "A276V,A50P,D150V,I280V,L49P,P105S,R307K,R66Q,S213I,T116M,T123M,V106I,V107L" "1,0,0,1,0,1,0,1,0,1,1,0,1" 27063 10406 hgmd1220;sw10926;evn1040;dbsnp23999;hgmd0613_1851 NP_060308;NHP2_HUMAN;NP_060308.1 "A118T,E12D,E133D,H132Y,R101Q,V126M,V64M,Y139H" "0,0,0,0,0,1,0,1" 55651 13852 hgmd1221;sw6593;dbsnp7082;hgmd0613_2300 NP_653200;NIPA1_HUMAN;NP_653200.2 "A10G,T45R" "0,1" 123606 10157 hgmd1222;sw5999;sws722;evn723;dbsnp23310;hgmd0613_2255 NP_597677;NIPBL_HUMAN;NP_597677.2 "A1246G,A179T,A2390T,A445T,A621S,C1311R,D1803V,D2160Y,D719E,E778D,G2081A,G2312R,G2381A,G532V,G740D,H1706Q,H721R,I1017L,I1206V,I1521V,I410V,I459R,I459V,I557V,I585V,I668V,I92M,K662R,L1312P,L1348R,L2150P,L414P,L651I,L908P,M613V,N1033S,N2603Y,N384S,N60S,N674S,P982Q,R1789L,R1856T,R2298C,R2298H,S135N,S1511T,S2090I,S2613N,S261A,S2733N,S636T,T773A,T914N,V2473A,V578I,V586I,V810I,V810L,V99I,Y2430C,Y2440H" "1,0,1,0,0,1,1,0,0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,1,1,1,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,1" 25836 174 hgmd1223;sw3243;evn945;dbsnp6015 NP_003308;NKX21_HUMAN;NP_003308.1 "H292Q,T242A,T50A" "0,0,0" 7080 8569 hgmd1224;sw3598;sws434;evn458;dbsnp23694;hgmd0613_1194 NP_004378;NKX25_HUMAN;NP_004378.1 "A127E,A127V,A219V,A281V,A323T,A42P,A63V,D16A,E21Q,K15I,N188K,P275T,P283Q,P59A,Q187H,Q22P,R142C,R161P,R189G,R190C,R216C,R25C,T178M,Y191C" "1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 1482 10289 hgmd1225;sw9520;dbsnp27505 NP_006158;NKX31_HUMAN;NP_006158.2 R52C 0 4824 12250 hgmd1226;evn1135;dbsnp30023;hgmd0613_1912 NP_061850;NP_061850.2 "A32V,A39T,A730T,A757S,A812T,C23S,C23Y,G19C,G758A,I203V,K15E,K15N,K15T,L10M,L12P,L24F,L29V,N660K,P16S,P7L,R20Q,R34K,S11F,T632A,V18I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54413 2909 hgmd1227;sws844;evn969;dbsnp29860;dbsnp29861;hgmd0613_1959 NP_065793;NLGNX_HUMAN;NP_065793.1;NP_851849.1 "A339S,A630P,E659D,F14C,G6R,I100V,I126T,I299M,I502V,K378R,L13F,L29I,L593F,L773F,N64S,N726K,N796K,Q5K,R59K,T103A,V19I,Y291H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57502 2909 hgmd1228;dbsnp30849;hgmd0613_1714 NP_055708;NP_055708.3 L593F 0 22829 2909 hgmd1229;sw9952;spmut1315;dbsnp8921;hgmd0613_2194 NP_127497;NALP1_HUMAN;NP_127497.1 "E869K,F274L,F629L,G106R,G354D,G578S,H1069Y,H363P,H363R,H714Q,I1263T,I448V,I601F,L1468H,L1468P,L283F,M1119V,M1184T,M1184V,M686V,P1072A,P1072T,Q1173R,Q397E,Q533H,R1366C,R149T,R308Q,R404Q,R898Q,R947S,R955C,S368T,S573C,T211M,T246A,T246S,T670I,T782S,T878M,T995I,V1059M,V1231I,V1241I,V1241L,V1325I,V136I,V803I,V939L,V939M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22861 865 hgmd122;sw6535;dbsnp2256;hgmd0613_2510 NP_998764;ANO5_HUMAN;NP_998764.1 "C356G,C356R,E202K,G227A,G231V,I346L,L322F,L785R,M833K,M900L,N52S,N882K,R58W,R642G,R758C,S506G,S796L,T206A,T267S,V87I,W655C" "1,1,0,0,1,0,0,0,1,0,1,0,1,0,1,0,1,0,0,0,1" 203859 2536 hgmd1230;sw6888;sws798;dbsnp2327;hgmd0613_2416 NP_789792;NAL14_HUMAN;NP_789792.1 "A432S,D115H,D3G,D522Q,D86V,E163G,E21K,E808K,F353S,I233L,I244V,I783V,K51R,K737T,K92R,L1010F,L1073I,L511F,L954S,M1019I,M461T,N446S,N48T,P104R,R55E,R55Q,R55W,R881H,S4T,S951T,S98L,T397I,V179M,V441M,Y1028N" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338323 1739 hgmd1231;sw9250;dbsnp14844;dbsnp14849;hgmd0613_1278 NP_004886;NALP3_HUMAN;NP_004886.3;NP_001073289.1 "A354V,A441T,A441V,D305G,D305N,D648Y,E356D,E629G,F311S,F525C,F575S,G571R,H215R,H360R,I174T,L1018F,L266H,L307P,L355P,L634F,L832I,M664T,M70T,Q308L,Q705K,R137H,R262L,R262P,R262W,R490K,R675Q,S549C,S728G,T195K,T350M,T407P,T438I,T438N,T954M,V200M,Y572C,Y861C" "1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,0,1,1,1,1,0,1,0,1,0,1,1,1,1,1,0,0,0,0,1,1,1,1,0,1,1,1" 114548 1955 hgmd1232;sw8451;dbsnp10983;hgmd0613_2496 NP_996611;NALP7_HUMAN;NP_996611.2 "A481T,A494T,A536T,A833T,C761Y,E507V,F250C,G487E,G573D,I100V,L311I,L388V,L398R,L504P,L936I,N913S,P651S,P716A,Q310H,Q310R,R156Q,R390H,R413W,R432L,R693P,R693Q,R693W,R721W,R795C,R815H,S361L,S702N,T734M,T971A,T971M,V279L,V319I,V588M,V714I" "0,1,0,0,1,0,0,0,0,0,0,0,1,0,0,1,1,1,0,0,1,0,0,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0" 199713 1848 hgmd1233;pmd279.1;pmd280.1;pmd281.2;pmd885.2;pmd3721.1;pmd3852.1;pmd3908.1;pmd4470.2;sw2231;spmut1332;evn179;dbsnp10238;hgmd0613_222 NP_000260;NDKA_HUMAN;NP_000260.1 "S120G,T143M,V21M" "1,0,0" 4830 11555 hgmd1234;sw828;dbsnp26303;hgmd0613_630 NP_001073882;NOBOX_HUMAN;NP_001073882.3 "A588S,D452N,F517L,G152R,G482S,G91W,K358Q,K664R,P609L,P619L,R117W,R355H,R360Q,R44L,S342T,S431N,V350L,V89L" "0,0,0,0,0,1,0,0,0,0,1,1,0,0,1,0,1,0" 135935 4151 hgmd1235;sw11717;spmut1372;evn387;dbsnp26173 NP_006083;NOD1_HUMAN;NP_006083.1 "A226T,A554V,A55V,A610T,D161H,D161Y,D372N,F199I,F199L,G189S,G507R,G743S,H290Q,H454Q,L145P,L154P,L191P,L349P,L475R,P339L,Q194H,R214Q,R223W,R373H,R399Q,R399W,R447H,R575W,R605W,R617C,R637H,R705Q,S112F,S355C,T651M,T787M,T868M,W219R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10392 2316 hgmd1236;sw10513;spmut1373;dbsnp7413;hgmd0613_2020 NP_071445;NOD2_HUMAN;NP_071445.1 "A105T,A110V,A140T,A292V,A301V,A432V,A612T,A612V,A725G,A755V,A758V,A885T,A918D,C648W,C842R,D154N,D291N,D382E,E249G,E383K,E441K,E778K,E843K,G1032S,G534V,G5R,G908R,G924D,H352R,H496L,L155Q,L248R,L348V,L469F,L81V,M863V,N289S,N414S,N853S,P125L,P24L,P268S,P668L,Q809R,R1019L,R235C,R311W,R334Q,R334W,R373C,R439H,R471C,R684Q,R684W,R702W,R703C,R708H,R713C,R760C,R790Q,S431L,T189M,T294S,T605N,V592M,V793M,V955I,W157R" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 64127 1937 hgmd1237;sw9388;sws1049;dbsnp244;hgmd0613_1864 NP_060525;NODAL_HUMAN;NP_060525.3 "E203K,E279A,G260R,H165R,H306Y,M173T,P182L,R183Q,R275C,R302C,V284F" "1,0,1,0,0,0,0,1,1,0,1" 4838 9726 hgmd1238;sw4443;evn429;dbsnp9614;hgmd0613_1369 NP_005441;NOGG_HUMAN;NP_005441.1 "A36P,A94P,C184Y,C232W,D60N,D86E,E48K,G189C,G216A,I220N,P187S,P223L,P35A,P35R,P35S,R167G,R204L,T23A,T23I,W205C,W217G,Y222C,Y222D" "1,0,1,1,0,0,1,1,0,1,1,1,1,1,1,1,1,0,0,1,1,1,1" 9241 12289 hgmd1239;sw10612;dbsnp7204;hgmd0613_1894 NP_061118;NOP10_HUMAN;NP_061118.1 "D12H,R34W" "0,1" 55505 14897 hgmd123;sw10336;evn259;dbsnp19147;hgmd0613_2157 NP_115584;ANTR1_HUMAN;NP_115584.1 "A326T,A493T,A493V,A518V,P555L,R438C,R7K,R88Q,V22A,W458G" "1,0,0,0,0,0,0,0,0,0" 84168 5622 hgmd1240;sw3272;evn784;dbsnp28628;hgmd0613_1831 NP_060087;NOTC1_HUMAN;NP_060087.3 "A2019S,A2250V,A2553S,A683V,A824D,A90P,D932E,E1450K,E1623K,E848K,G2152R,P1377S,P22S,P547H,Q300R,R1279H,R1350L,R203H,R234H,R621H,R879W,S2289N,T123M,V1324M,V1671I,V2285I,V2536I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 4851 225 hgmd1241;sw4147;evn750;dbsnp14109;hgmd0613_2064 NP_077719;NOTC2_HUMAN;NP_077719.2 "A1154V,A21T,A2333P,A2333T,A316S,A420S,A862V,C19R,C19W,C444Y,C68Y,D1327G,E2290K,F1209V,F57L,G2234S,G2281S,H1160R,H194D,H2032N,H24R,I658N,I681N,K1081D,K1641T,K2121N,K2121R,L1088R,L1413H,L1610I,L1994I,L2408H,L9P,M1242V,M2207V,M883V,M927V,N247S,N514S,N989D,P2192S,P227H,P2359A,P939L,Q1080H,Q1086R,Q466K,R1048H,R1069Q,R1111S,R113P,R1260H,R126Q,R2256C,R91L,S1020L,S1068I,S1370N,S1407W,S2110N,S2115G,S2232P,T120P,T145M,T1658I,T172P,T1752S,T197I,T89M,T932A,V1079I,V1305I,V1487A,V1633I,V1667F,V1667I,V2075M,V750I,Y2160C,Y217H" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4853 225 hgmd1242;sw11580;evn524;dbsnp11064;hgmd0613_360 NP_000426;NOTC3_HUMAN;NP_000426.2 "A1314T,A2223V,A284P,A284T,A319C,C1015R,C106W,C108W,C108Y,C117F,C123F,C123Y,C1261R,C1261Y,C128Y,C134W,C144F,C144S,C144Y,C146R,C155S,C162S,C174F,C174R,C174Y,C183F,C183R,C183S,C185G,C185R,C194F,C194R,C194S,C194Y,C201Y,C206Y,C212S,C222G,C222Y,C224Y,C233S,C233Y,C240S,C245R,C251R,C260Y,C379S,C395R,C428S,C428Y,C43G,C440G,C440R,C446S,C455R,C484F,C484Y,C495Y,C49F,C49Y,C511R,C542Y,C549Y,C65S,C67Y,C76R,C76W,C775S,C87R,C87Y,C93F,C93Y,D1063C,D543E,E1052G,E1464D,F1359Y,F142C,F984C,G1105A,G149C,G171C,G179V,G2068R,G420C,G801S,G953C,H1133Q,H1235L,H170R,L1515P,L1547V,L2292F,L295R,L925V,L989P,N1115I,N856D,N856Y,P1073L,P1567S,P2074L,P496L,P877A,R1006C,R1031C,R110C,R113Q,R1210H,R1220W,R1231C,R133C,R13C,R141C,R153C,R1560P,R169C,R182C,R207C,R213K,R2234C,R332C,R421C,R449C,R544C,R54C,R558C,R578C,R607C,R680H,R717C,R728C,R728H,R90C,R985C,S118C,S145C,S180C,S1970T,S335C,S497L,S60C,S732T,S978R,T1192I,T328P,T836I,V1183M,V1648L,V1922L,V1952M,V252M,V322M,V644D,W71C,Y1021C,Y150C,Y189C,Y258C,Y337C" "0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,1,1,0,1,1,0,0,1,0,1,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,0,1,1,0,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,1,0,1,1,1,0,1,0,0,0,0,0,0,0,0,0,0,1,1,1,1,1,1" 4854 297 hgmd1243;pmd1549.1;pmd1550.1;pmd1551.1;pmd1552.1;pmd1553.1;pmd3869.1;pmd3870.1;sw1446;evn412;dbsnp5504;hgmd0613_223 NP_000261;PNPH_HUMAN;NP_000261.2 "A161V,A174P,D128G,E89K,G51S,I277V,M181I,R234P,V217I,V227I,Y192C" "0,1,1,1,0,0,0,1,0,0,1" 4860 11115 hgmd1244;sw528;spmut1381;dbsnp10374;hgmd0613_224 NP_000262;NPC1_HUMAN;NP_000262.2 "A1035V,A1049V,A1054T,A1062V,A1174V,A1216V,A183T,A388P,A521S,A605V,A745E,A767V,A926T,A927V,C113R,C1168Y,C177G,C177Y,C247Y,C352F,C479Y,C63R,C670W,C74Y,C956Y,C976R,D1097N,D242H,D242N,D700N,D874V,D917Y,D944N,D945N,D948H,D948N,D948Y,E1089K,E1189G,E451K,E612D,E742K,F1087L,F1167L,F1224L,F537L,F703S,F763L,G1012D,G1015V,G1034R,G1073S,G1140V,G1236E,G248V,G333D,G640R,G660S,G673V,G910S,G911S,G986S,G992A,G992W,H1016R,H215R,H510P,H512R,I1061T,I1094T,I1220T,I450V,I858V,I943M,K576R,L1213F,L1213V,L380F,L472P,L684F,L695V,L724P,L929P,M1142T,M1179V,M156V,M272R,M631R,M642I,M754K,M996R,N1137I,N1150K,N1156I,N1156S,N185D,N222S,N589S,N961S,N968S,P1007A,P166S,P401T,P433L,P434L,P434S,P474L,P543L,P691L,P888S,Q775P,Q862L,Q928P,Q92R,R1059Q,R116Q,R1183H,R1186C,R1186H,R1266Q,R161W,R372W,R389C,R404P,R404Q,R404W,R411Q,R518Q,R518W,R615C,R615L,R646H,R789C,R789G,R934Q,R958L,R958Q,R978C,S1004L,S1169I,S1200G,S1249G,S151G,S473P,S652W,S666N,S734I,S849I,S865L,S940L,S954L,T1036K,T1036M,T1066N,T1205K,T1205R,T137M,T511M,T574K,V1023G,V1115F,V1165M,V1212L,V231G,V378A,V664M,V727F,V757A,V810F,V810L,V873A,V889M,V950M,V959E,V971G,W273S,W291C,W381C,W942C,Y1088C,Y509S,Y825C,Y871C,Y890C,Y899D" "1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,0,1,1,1,1,0,1,1,1,1,0,0,0,1,1,1,1,1,0,1,1,1,1,1,0,0,1,1,0,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,0,0,1,0,0,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,0,0,0,0,1,1,1,0,0,0,0,1,1,1,1,1,1,1" 4864 1208 hgmd1245;dbsnp25952;hgmd0613_1646 NP_037521;NP_037521.2 "A101V,A1257S,A158G,A271S,A271V,A310S,A395V,A947T,D1114H,D273Y,D312H,E1308K,G283D,G557A,H221Y,H334P,I647N,L110F,M510I,M616V,N132S,N244S,N387S,N926S,P1298L,P282L,P974S,Q1131H,R1094Q,R174C,R174H,R242H,R268C,R306C,R417W,R421G,R463H,R498C,R498H,R605C,R693C,S1062L,S868N,T323P,T499M,T61M,T667M,T67S,V177I,V360I,V984I,Y893C" "0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,1,1,0,0,1,1,0,0,0,1,0,0,0,0,1,0,0,1,1,0,0,0,0,0,1,0,0,0,1,1,0,0,0,0,0,0" 29881 1049 hgmd1246;sw3861;dbsnp5398;hgmd0613_1507 NP_006423;NPC2_HUMAN;NP_006423.1 "C47F,C93F,C99R,D91N,K71R,N98H,P120S,P86L,S121A,S121T,S67P,V30M,V39M" "1,1,1,0,0,0,1,0,0,0,1,1,1" 10577 13898 hgmd1247;dbsnp19169;hgmd0613_225 NP_000263;NP_000263.2 "A230V,A258V,I45L,I529M,I606T,M324T,P39T,R277Q,S630L,T374I,Y78H" "0,0,0,0,0,0,0,0,0,0,0" 4867 3756 hgmd1248;sw6680;dbsnp21084;hgmd0613_2356 NP_694972;NPHP3_HUMAN;NP_694972.3 "A1184T,A1221V,A150V,D924N,F1324S,I343T,I618T,L1141P,N386S,N711S,P391R,Q961E,R1074H,R1094Q,R1167H,R1305C,R397C,R397H,R605C,R705H,R973Q,S1252R,S1314T,S360T,Y1272C" "0,1,0,0,0,0,0,1,1,0,0,0,0,0,0,0,1,1,0,0,1,1,1,1,0" 27031 1107 hgmd1249;sw960;dbsnp13041;hgmd0613_1728 NP_055917;NPHP4_HUMAN;NP_055917.1 "A1098T,A544G,A617V,A654G,D1413N,D3Y,D853Y,E399G,E618K,F91L,F991S,G754R,H1304R,H782Q,L939Q,P1160L,P776R,Q1287E,Q766R,R1192W,R1284C,R153W,R160L,R342C,R390H,R469W,R735W,R740H,R848W,R959Q,R961H,T1225M,T29M,T627M,T946A,V765I" "1,0,0,1,0,1,0,0,0,1,1,1,0,1,0,0,1,1,1,1,1,0,0,1,0,1,1,0,1,0,1,1,0,1,1,0" 261734 946 hgmd124;evn1082;dbsnp22273;hgmd0613_2231 NP_477520;NP_477520.2 "A357P,R111C,T90S" "0,0,0" 118429 5622 hgmd1250;sw847;evn158;dbsnp11618;hgmd0613_1250 NP_004637;NPHN_HUMAN;NP_004637.1 "A107T,A107V,A1188T,A22V,A540E,A604D,A61V,A739V,A806D,A851V,A916S,C265R,C417F,C465Y,C528F,C623F,D819V,E189K,E447K,E583K,E725D,G15R,G270C,G347E,G412C,G601A,H1039D,H1174Y,H617R,I171N,I173N,I742T,K848T,L376V,L392P,L587R,L610Q,L830V,L832P,L96V,M118T,M384T,N1077S,N159S,N188I,N673K,N774S,P1200S,P134A,P167L,P264R,P340H,P368L,P368S,P519S,P575Q,R1092H,R1140C,R1140S,R207L,R256W,R299C,R367C,R379W,R407W,R460Q,R558C,R586G,R731L,R743C,R800C,R800H,R802P,R802Q,R802W,R831C,R976S,S220A,S350P,S366R,S572N,S724C,S910P,T233A,T294I,T6M,V1241A,V216L,V43A,V709G,V822M,V834F,V991L,W64S,W681C,Y1217D,Y638C" "1,1,0,1,0,0,0,1,1,1,0,1,1,1,1,1,1,0,1,0,1,0,1,1,1,0,0,0,1,1,1,1,0,1,0,1,1,0,1,1,0,0,0,0,1,1,0,0,0,1,1,1,1,1,1,1,0,1,0,0,1,1,1,1,1,1,1,1,0,1,0,0,1,0,1,1,1,1,1,1,1,1,1,0,0,0,0,0,0,1,1,1,1,1,1,0,0" 4868 1307 hgmd1251;sw10593;dbsnp14140;hgmd0613_1698 NP_055440;PODO_HUMAN;NP_055440.1 "D160G,E237Q,G92C,G97S,L142P,P20L,P375L,R138Q,R291W,V180M" "1,0,1,0,0,1,0,1,1,1" 7827 8923 hgmd1252;pmd24.1;sw2441;evn165;dbsnp28769;hgmd0613_1139 NP_003986;ANPRB_HUMAN;NP_003986.2 "A204T,A22G,A22S,A409T,A80V,D134E,D176E,E70Q,G209V,G326A,G413E,G959A,I217F,M232I,P32T,Q284E,Q771E,R1040Q,R137H,R272Q,R280Q,R423W,R506H,R776W,R787W,R947H,R957C,S130A,S434L,S68N,S693N,S732G,S83I,S83R,T297M,V187I,V707I,V882I,W115G,Y338C,Y708C,Y747H" "0,0,0,1,0,0,1,0,0,0,1,1,0,0,1,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,1,0,0,0,1,1,1,0" 4882 1910 hgmd1253;sw3550;evn122;dbsnp30233;hgmd0613_385 NP_000466;NR0B1_HUMAN;NP_000466.2 "A300P,A300V,E377K,H341P,I439S,K382N,L278P,L295P,L297P,L381H,L466R,N440I,P279S,R267P,R425G,R425T,R51G,T415A,V216M,V287G,V385G,W291C,Y380D" "1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,0,0,0,1,1,1,1" 190 7198 hgmd1254;sw4872;evn1008;dbsnp14222;hgmd0613_2008 NP_068804;NR0B2_HUMAN;NP_068804.1 "A195S,G171A,G189E,K30R,L118V,P115S,Q5E,R213C,R216H,R45Q,R57W,S158N,V198A" "1,0,1,0,0,0,0,1,0,0,1,0,0" 8431 11757 hgmd1255;evn539;dbsnp4196;hgmd0613_1312 NP_005114;NP_005114.1 "I155M,M173T,M1V,P14H,V220M,V28I" "0,0,1,0,0,0" 9971 6906 hgmd1256;sw1020;dbsnp20939;hgmd0613_1126 NP_003880;NR1I2_HUMAN;NP_003880.3 "A12T,A370T,E18K,G278E,G36R,I403V,M149R,P27S,R122Q,R148Q,R381W,R98C,S247T,S8T" "0,0,0,0,0,0,0,0,1,0,0,0,0,0" 8856 7158 hgmd1257;evn248;dbsnp13823;hgmd0613_1311 NP_005113;NP_005113.1 "G314R,G314S,L118V,L155M,R231H,R306Q,R97W,V104M,V181I" "0,0,0,0,0,0,0,0,0" 9970 9506 hgmd1258;pmd744.2;pmd745.1;pmd2053.1;pmd2108.1;sw1633;spmut758;evn348;dbsnp22877;dbsnp22878;dbsnp22879;dbsnp22880;dbsnp22881;hgmd0613_573 NP_001018087;GCR_HUMAN;NP_000167.1;NP_001018087.1;NP_001018086.1;NP_001018085.1;NP_001018084.1 "A229T,C421Y,D233N,D25N,D641V,E155K,F29L,F65V,G516A,G679S,I559N,I747M,L112F,L753F,N130S,N363S,P9S,R23K,R477H,S305G,S512P,V163I,V571A,V729I,Y30H" "0,0,0,0,1,0,0,0,0,1,1,1,0,0,0,0,0,0,1,0,0,0,1,1,0" 2908 3383 hgmd1259;evn444;dbsnp21689;hgmd0613_521 NP_000892;NP_000892.2 "A539S,N256S,N58Y,N912S,Q135H,Q68H,R150H,R247W,R28H,R771H,S222N,S419L,S456L,S59C,T159R,V860I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4306 2164 hgmd125;sw294;evn985;dbsnp23497;hgmd0613_1093 NP_003655;AP3B1_HUMAN;NP_003655.3 "A113V,A400P,A600S,E681G,E693D,E731G,F887L,G13A,H850N,I357V,I775K,K287R,L580R,N395S,N972S,P583L,R1085Q,R65Q,R730W,S782F,T862I,V585E,V999M" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 8546 1731 hgmd1260;evn754;dbsnp19735;hgmd0613_1469 NP_006177;NP_006177.1 "A228T,A421T,E111D,E354D,G134S,G208A,G208S,P141S,P204T,P206Q,P252Q,Q96P,S140G,S148T,T131S,V524L,Y100F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4929 4728 hgmd1261;sw4450;spmut2056;dbsnp28520;hgmd0613_1284 NP_004950;STF1_HUMAN;NP_004950.2 "C33S,C55Y,D238N,D293N,G123A,G146A,G212S,G35E,G91S,L437Q,M78I,P129L,P131L,Q460P,Q460R,R191C,R255L,R427Q,R84H,R92Q,V15M" "1,1,1,1,1,0,1,1,1,1,1,1,1,0,0,1,1,0,1,1,1" 2516 5978 hgmd1262;pmd1588.1;pmd1589.1;pmd1590.2;pmd1684.1;pmd1685.1;pmd1686.1;pmd1687.1;pmd1688.1;sw1488;spmut1714;evn1033;hgmd0613_955 NP_002515;RASN_HUMAN;NP_002515.1 "D175E,G12C,G13D,G13R,G60E,M168V,N172H,Q61K,Q61R,S174N,T50I,V188L" "0,1,1,1,1,0,0,1,1,0,1,0" 4893 12566 hgmd1263;sw3664;evn164;dbsnp6087;hgmd0613_1465 NP_006168;NRL_HUMAN;NP_006168.1 "A76V,H125Q,L160P,L187M,M96V,R170S,S50T,V59A" "0,0,1,0,0,1,1,0" 4901 12175 hgmd1264;sw9108;spmut1391;evn345;dbsnp23401;hgmd0613_2031 NP_071900;NSD1_HUMAN;NP_071900.2 "A1036P,A1230V,A2546T,A2594T,A564S,A691T,A801V,C132S,C1674W,C1925R,C2183S,D732N,E1051K,E1130G,E990D,G1231E,G1792V,G1955D,H1616L,H2143Q,I1687N,I899T,L1091I,L1637P,L254F,L2617S,L757M,L999V,M2250I,M2261T,M455T,N272K,P2574L,P493L,Q2474E,Q610R,R1074H,R1914C,R1952W,R1984Q,R2005Q,R2017Q,R2017W,R604L,S1241T,S2379P,S726P,S817F,T1507M,V614L,Y1997C" "0,0,0,0,0,0,0,0,1,1,1,0,0,0,0,0,1,1,1,1,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,1,1,0,0,0,0,0,0,0,1" 64324 194 hgmd1265;sw4913;dbsnp30278;dbsnp30279;hgmd0613_1778 NP_057006;NSDHL_HUMAN;NP_001123237.1;NP_057006.1 "A105V,A14V,A182P,E217K,G205S,L95V,M9V,Q253K,Q34E,Q89E,R281C,W298L" "1,0,1,0,1,0,0,0,0,0,0,0" 50814 9130 hgmd1267;sw2935;evn668;dbsnp12275;hgmd0613_1466 NP_006170;NTF4_HUMAN;NP_006170.1 "A146T,A73T,A75T,A88V,C7Y,E84K,R114G,R133H,R140C,R206Q,R206W,R209G,R90C,R90H,S89N,T207I,T207S,V104G,V167L" "0,0,0,1,1,1,0,0,0,1,1,1,0,1,0,0,0,0,0" 4909 12736 hgmd1268;evn675;dbsnp12862;hgmd0613_563 NP_001012331;NP_001012331.1 "A543V,A752T,E486K,E575D,E575K,G226D,G64S,G89S,L431F,L79Q,N434K,Q289K,R157H,R161H,R260G,R314C,R438Q,R85H,S146L,T237M,V412I" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4914 3238 hgmd1269;evn997;dbsnp28676;hgmd0613_1467 NP_006171;NP_006171.2 "A11S,A203S,A203T,A457P,F30L,I156V,I407V,L140F,L201M,P204H,P204L,P578S,P65S,Q172E,S167Y,T34A,V63A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4915 2974 hgmd126;pmd1408.1;pmd4296.1;pmd4298.3;spmut107;evn308;dbsnp4209;hgmd0613_2435 NP_863651;APAF_HUMAN;NP_863651.1 "A1025D,A1025S,A167T,A580D,A772V,C1037Y,D443N,D479E,E625A,E777K,G894E,G954V,I1038V,K1003R,K1077T,L1116H,L1116P,L790S,M814I,N782T,P470L,P470S,Q454R,Q465R,Q844R,R122K,R872H,R944K,R952K,S256N,S871L,S96F,T446S,T869I,V69I" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 317 1287 hgmd1270;evn800;dbsnp23827;hgmd0613_2362 NP_705618;NP_705618.1 "A791S,D429V,G196S,G453R,H542Y,I1332T,I156V,I323V,I805V,K902T,L1354V,N435S,P993L,R1260H,R786Q,R883H,S1366C,S15F,S337F,V1046A,V402M,V57I,Y614C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9631 997 hgmd1271;sw3065;evn916;dbsnp11009;dbsnp11010;dbsnp11011;dbsnp11012;dbsnp11013;hgmd0613_2370 NP_714941;NUP62_HUMAN;NP_001180286.1;NP_057637.2;NP_714941.1;NP_714940.1;NP_036478.2 "A233S,A274T,A279T,A63T,A63V,D441E,E412D,G139S,G289S,I214T,P192L,Q391P,R446H,S283T,T13A,T165M,T187A,T187M,T234A,T281A,T281S,T282S,T64P" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 23636 6251 hgmd1272;dbsnp12245;hgmd0613_2267 NP_612463;NP_612463.1 "D16N,E154V,E31D,E64K,F90L,M94I" "0,0,0,1,0,1" 115861 12691 hgmd1273;sw10024;evn600;dbsnp30254;hgmd0613_2035 NP_072089;NYX_HUMAN;NP_072089.1 "A143P,A187K,A406G,C31S,F298S,G370V,G435A,L184P,L213Q,L232P,L285P,L307P,L347P,L394F,N216S,N264K,N312S,P151L,P175R,R254W,S415N" "1,1,0,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,0,0" 60506 6978 hgmd1274;pmd2373.2;sw1638;dbsnp227;hgmd0613_227 NP_000265;OAT_HUMAN;NP_000265.1 "A226V,A270P,C394R,C93F,G353D,G36A,G375A,H319Y,I431V,L402P,L437F,N54K,N89K,P241L,P417L,Q90E,R154L,R180T,R250P,R271K,T267I,V332M,Y245C,Y55H" "1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 4942 7781 hgmd1276;sw4145;sws507;dbsnp6461;hgmd0613_228 NP_000266;P_HUMAN;NP_000266.2 "A257D,A334V,A336V,A339S,A368V,A481T,A724P,A765T,A787T,A787V,C112F,E678K,F385I,G27R,G507R,G775R,G795R,H549Q,H615R,I370T,I473S,I617L,I722T,K614E,K614N,L440F,L440H,L688F,L763M,M394I,M395L,M446V,N476D,N489D,P162S,P198L,P211L,P241L,P241R,P743L,P766T,Q200H,Q21H,Q799H,R10W,R136Q,R243C,R266W,R290G,R305W,R419Q,R419W,R555C,R560H,R588W,R720C,S736L,S86R,T122I,T387M,T404M,T592I,V230L,V251M,V350M,V443I,V519A,V833M,V834M,W652R,W679C,W679R,Y827H" "0,1,0,0,1,1,1,0,1,1,1,1,1,1,0,1,1,1,0,1,1,1,0,1,1,0,0,1,0,1,1,1,1,1,0,1,1,0,0,1,0,0,0,1,1,0,1,0,1,0,0,1,1,0,0,1,1,1,0,0,1,1,0,0,1,1,1,0,0,1,1,1,1" 4948 2975 hgmd1277;sw4061;spmut1410;evn423;dbsnp30430;hgmd0613_229 NP_000267;OCRL_HUMAN;NP_000267.2 "A395V,A797P,C498Y,D431N,D451G,D451N,D499H,E415D,E468G,E468K,F182P,F242S,F463S,F894I,G357E,G421E,H375Y,H414R,H524Q,H524R,I274T,I533S,I768N,K713R,L891R,N267S,N354H,N373Y,N424D,N591K,P495L,P526L,P799L,P801L,Q277R,R318C,R337C,R337P,R361I,R457G,R493W,R500G,R500Q,S183L,S374F,S522R,T14I,V372G,V508D,W503R,Y479C,Y513C,Y816H" "0,1,1,0,1,1,1,0,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,0" 4952 2610 hgmd1278;sw1057;dbsnp30423;hgmd0613_1086 NP_003602;OFD1_HUMAN;NP_003602.1 "A678G,A79T,E626Q,G138S,G754D,G842R,H151Y,I682L,K422E,K432E,K888T,M159T,M293T,M849R,P687L,R487Q,R800G,S435R,S74F,V261I,V307I" "0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0" 8481 2056 hgmd1279;pmd283.1;pmd4235.2;pmd4236.1;pmd4575.1;sw617;sws62;spmut1412;evn752;dbsnp20098;hgmd0613_958 NP_002533;OGG1_HUMAN;NP_002533.1 "A288V,A85S,D268N,D322N,E230Q,E70K,G12E,G308E,H328C,R131Q,R154H,R197W,R229Q,S232T,S320T,S51T,T177S,V317M" "0,1,1,0,0,0,1,0,0,1,1,0,0,1,0,0,0,0" 4968 8071 hgmd127;sw2622;sws299;spmut111;evn14;dbsnp23048;dbsnp23049;hgmd0613_22 NP_000029;APC_HUMAN;NP_000029.2;NP_001120982.1 "A1184P,A1184T,A1247T,A1296V,A1316T,A1358T,A1446T,A1474T,A1508V,A1671V,A2274V,A2523S,A2690G,A2690T,A735E,A735V,D1058G,D1422H,D1569G,E1057G,E1317Q,E2603A,E911G,F1197S,F2620I,G1120E,G1312E,G1312V,G2058D,G2073A,G2370V,G2502S,G277A,G817C,H1897P,H2063Y,I1259T,I1304V,I1307K,I1987V,I2321M,I2573V,I2738T,I2756V,I544T,I880T,K1370Q,K1454E,K398R,L1129S,L1827V,L2511F,L2839F,L826V,M1413V,M2213I,M949I,N1118D,N1217T,N1290G,N2060H,N936S,N942D,P1176L,P1243T,P1330T,P1458S,P2065L,P429Q,Q203E,Q2291H,R1066K,R1171C,R1171H,R1348W,R1589C,R1589G,R1676T,R1882T,R2505Q,R283Q,R414C,R99W,S1206T,S130G,S1341N,S1395C,S1495G,S171I,S1806P,S1973T,S2005A,S2295T,S2497L,S2621C,S535F,S722G,S784T,S906Y,T1292M,T1313A,T1496S,V1326A,V1472I,V1822D,V2499L,V609I,V821I,V890I,Y1027C" "1,0,0,1,0,0,1,1,0,0,1,0,0,0,0,0,0,1,0,0,0,0,1,1,0,1,1,0,0,0,0,0,0,1,0,0,1,1,0,0,0,1,0,1,0,1,0,1,0,0,0,0,1,0,1,0,1,1,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,1,0,1,1,0,0,0,1,1,1,0,0,0,0,0,1,0,1,1,1,0,1,0,1,1,0,0,0,0,1,1" 324 167 hgmd1280;sw1387;sws148;evn1138;dbsnp11459;hgmd0613_2230 NP_477512;NOE2_HUMAN;NP_477512.1 "A105V,A141T,A162T,A188T,A52V,D124Y,E152D,N26S,R106Q,T127M,V153M" "0,0,0,0,0,0,0,0,0,0,0" 93145 7273 hgmd1281;sw2581;evn453;dbsnp9393;hgmd0613_959 NP_002535;OMGP_HUMAN;NP_002535.3 "G21D,H346R,L431M,P270S,S47T,T408A,V411E,V435A,Y237H" "0,0,0,0,0,1,0,0,0" 4974 7759 hgmd1282;sw814;evn1144;dbsnp20747;hgmd0613_1761 NP_056375;OPA1_HUMAN;NP_056375.2 "A192V,A357T,A8S,C551Y,D273A,D438V,D470G,D550N,E189G,E270K,E487K,E907G,G300E,G768D,G921S,H45Y,I382M,K468E,K505N,L272P,L384F,L396P,L396R,L574P,L593P,L776I,L887P,L939P,L949P,N430D,N728K,P167L,P29A,P400A,Q15K,Q310R,Q785R,R198H,R290Q,R290W,R445H,R571H,R590Q,R590W,R781W,R85H,R882L,R932C,S158N,S177I,S177N,S646L,S823Y,T449R,T503K,T95M,Y102C,Y582C,Y80C,Y841C" "0,1,1,1,1,1,1,0,0,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,1,0,1,1,0,1,1,1,1,1,1,1,0,1,1,0,0,0,1,1,1,1,1,1,1,1,1" 4976 2048 hgmd1283;sw10321;evn1122;dbsnp12062;hgmd0613_2103 NP_079412;OPA3_HUMAN;NP_079412.1 "E113K,G93S,H172Q,Q105E,R160C" "0,1,0,1,0" 80207 13361 hgmd1284;sw1616;dbsnp29602;hgmd0613_1924 NP_064445;OPSR_HUMAN;NP_064445.1 "A174V,A298P,C203R,G338E,I111V,I230V,I274V,L153M,M236L,M236V,P307L,S116Y,T65I,V279F,W243S,Y309F" "0,0,1,1,0,0,0,0,0,0,1,0,0,0,0,0" 5956 9313 hgmd1285;sw1617;hgmd0613_419 NP_000504;OPSG_HUMAN "C203R,N94K,R330Q,W177R" "1,1,1,1" 2652 9313 hgmd1286;sw1615;evn859;dbsnp25968;hgmd0613_810 NP_001699;OPSB_HUMAN;NP_001699.1 "A226S,E6D,F49L,G79R,I302V,I47V,P264S,R174W,R196H,S214P,V164I,V93I" "0,0,0,1,0,0,1,0,0,1,0,0" 611 9699 hgmd1287;sw3120;evn415;dbsnp13213 NP_000902;OPRD_HUMAN;NP_000902.3 "A309T,C198Y,C27F,F220L,I183V,I52V,K250R,R292H" "0,0,0,0,0,0,0,0" 4985 6800 hgmd1288;pmd496.1;pmd497.2;pmd498.1;pmd499.1;pmd500.2;pmd501.1;pmd3342.1;sw2979;spmut1420;evn352;dbsnp24481 NP_000905;OPRM_HUMAN;NP_000905.3 "A5T,A6D,A6V,C192F,D274N,D51N,G63V,N40D,Q214H,R265C,R49H,R49S,S147C,S147F,S66F,T8A,V302I,Y19H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4988 6800 hgmd1289;sw11246;evn865;dbsnp15180;hgmd0613_1682 NP_055174;OPT_HUMAN;NP_055174.1 "E171K,E77K,F225I,I182T,I60T,L268P,Q212K,R167C,R167H,R229C,R325W,R330H,R47Q,S90N,T106M,T332M,T332R,V287I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26254 10087 hgmd128;pmd25.1;pmd59.1;pmd67.1;pmd110.1;pmd562.1;pmd563.2;pmd564.3;pmd1373.1;pmd2762.1;pmd2763.1;pmd3513.1;pmd3514.1;pmd3988.1;pmd3989.1;pmd4299.1;pmd4300.2;pmd4301.1;pmd4620.1;sw2684;spmut112;evn767;dbsnp5500;dbsnp5501;dbsnp5502;dbsnp5503;hgmd0613_801 NP_001632;APEX1_HUMAN;NP_001231178.1;NP_542379.1;NP_001632.2;NP_542380.1 "A317V,D163E,D283G,E126D,G306A,I64V,L104R,P311S,Q51H,R187H,R237H" "0,0,1,1,1,0,1,0,0,0,0" 328 10428 hgmd1290;dbsnp47;dbsnp48;dbsnp49;dbsnp50;hgmd0613_2011 NP_068815;NP_001008214.1;NP_068815.2;NP_001008212.1;NP_001008213.1 "E135K,E322Q,S308P" "0,0,0" 10133 5455 hgmd1291;sw779;spmut1423;evn990;dbsnp18572;dbsnp18573;dbsnp18574;dbsnp18576;hgmd0613_961 NP_002543;ORC4_HUMAN;NP_001177808.1;NP_859526.1;NP_859525.1;NP_002543.2 "A286V,L118S,L202V,L384F,L56V,N78S,Q267R,S131G,S293W,V364I,Y174C" "1,0,0,0,0,0,0,0,0,0,1" 5000 7834 hgmd1292;sw9485;evn157;dbsnp23302;hgmd0613_1140 NP_003990;OSMR_HUMAN;NP_003990.1 "A524G,A939P,A950E,D553N,D627E,D647H,D647V,D928A,E388K,E527K,G210W,G578D,G618A,H187Q,I358M,I383V,I507T,I691T,K697T,L117V,L545V,M883V,M902I,N131S,P694L,P936S,P959R,P960L,R29H,R319G,R330Q,R596Q,S202C,S441N,S480R,S800T,T715S,V151I,V169I,V436D,V506I,V6I,Y214C,Y364H" "0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,1,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9180 2185 hgmd1293;pmd284.1;pmd1503.1;pmd1572.1;pmd2891.1;pmd3853.1;pmd3854.1;pmd3940.2;pmd3941.1;pmd4089.1;sw1444;dbsnp29706;hgmd0613_436 NP_000522;OTC_HUMAN;NP_000522.3 "A102E,A140P,A174P,A208T,A209V,A336S,C303R,C303Y,D126G,D175V,D196V,D196Y,D263G,D263N,E181G,E314A,E326K,E87K,F101L,F354C,G100D,G188R,G188V,G197E,G197R,G269E,G39C,G50R,G79E,G83D,G83R,H117L,H117R,H168Q,H168R,H182L,H202P,H202Y,H214Y,H255P,H302L,H302Q,H302Y,I159T,I160S,I172F,I172M,K46R,K88N,L111P,L139S,L191F,L201P,L244Q,L301F,L304F,L341P,L43F,L45P,L45V,L63P,M206I,M206R,M213K,M268T,M56T,N161S,N198K,N47I,P220A,P225L,P225R,P225T,P305H,Q180H,Q216E,Q270R,R129H,R141P,R141Q,R26Q,R277Q,R277W,R320L,R330G,R40C,R40H,R92Q,R94T,S192R,S203C,S207R,S267R,S340P,S60L,T125M,T178M,T242I,T247K,T262K,T264A,T264I,T333A,T343K,T44I,T93A,V337L,V339L,W265L,Y176C,Y183C,Y183D,Y345C,Y345D,Y55D" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" 5009 9549 hgmd1294;sw10508;sws1167;dbsnp18357;hgmd0613_2453 NP_919224;OTOF_HUMAN;NP_919224.1 "A1083P,A1980S,A53V,A884T,A964E,C113R,D1322E,D1488V,D1528N,D1695N,E801V,F1795C,G123S,G1364V,G1479S,G1888D,I1031V,I515T,K1306T,K1370E,L1011P,L1138P,N1203S,N1430S,P1111L,P1646S,P1825A,P1987R,P251L,P490Q,P51L,Q255H,R1026W,R1157Q,R1236Q,R1470W,R1680C,R1680H,R169Q,R1727W,R1827W,R1939Q,R193I,R33Q,R49W,R544C,R708Q,R773S,R792Q,R792W,R794H,R818W,R82C,R82H,R970C,T1264I,T149M,T1688K,V1129M,V1468A,V1468M,V1625M,V1807I,V1886A,V379M,V575M" "0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,1,1,0,0,0,0,1,1,0,1,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9381 426 hgmd1295;sw2894;evn714;hgmd0613_2382 NP_758840;OTX2_HUMAN;NP_758840.1 "A143S,N225S,P133T,P134A,P134S,R89G,R90S,T115S,T127A,T132S,T141A,T218A" "0,1,1,1,0,1,1,0,0,0,0,0" 5015 10872 hgmd1296;sw3712;evn33;dbsnp23988;hgmd0613_361 NP_000427;SCOT1_HUMAN;NP_000427.1 "A215V,A22G,C456F,D395N,D496G,G219E,G21R,G324E,I487V,L327P,R217L,R38C,R468C,S226N,S405P,T58M,V112I,V133E,V221M,V404F,V498I" "1,0,1,0,0,1,0,1,0,1,0,1,1,1,1,0,0,1,1,1,0" 5019 6288 hgmd1297;sw9469;sws1063;spmut1435;dbsnp3299 NP_002553;P2RX7_HUMAN;NP_002553.3 "A348T,A433G,A433V,D423N,E496A,G150R,H521Q,I367T,I568N,L320P,P430Q,P430R,P582L,Q460R,R117Q,R117W,R264H,R270C,R270H,R270L,R270P,R276H,R307Q,R53W,R578Q,T205M,T94I,V35M,V522I,V76A,Y155D,Y155H,Y155N,Y288H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5027 5192 hgmd1298;sw10157;evn818;dbsnp20989;dbsnp20990;hgmd0613_2038 NP_073625;P2Y12_HUMAN;NP_073625.1;NP_795345.1 "E330G,I206T,P135L,R256Q,R265W,T127I,V4I" "0,0,0,1,1,0,0" 64805 9846 hgmd1299;dbsnp6190;hgmd0613_1249 NP_004634;NP_004634.1 "M167I,P153S" "0,0" 8106 10077 hgmd129;pmd60.1;pmd61.1;pmd591.1;pmd1375.1;pmd1376.1;pmd1377.1;pmd1378.1;pmd1379.1;pmd1380.2;pmd1381.1;pmd1382.2;pmd1383.3;pmd1721.1;pmd1722.1;pmd1917.1;pmd1918.1;pmd2414.1;pmd2708.1;pmd3985.1;sw1565;dbsnp1269;hgmd0613_23 NP_000030;APOA1_HUMAN;NP_000030.1 "A119D,A188S,A61T,D113E,D126H,D127N,E134K,E160K,E163G,E171V,E222K,F95Y,G50R,K131M,L168R,L84R,P167R,P189R,P27H,P27R,P28R,R184P,R197C,R34L,T261A,T92I,V180E,W132R" "0,0,0,0,0,0,0,0,0,0,1,1,1,0,1,1,0,0,0,0,0,0,1,1,0,0,1,0" 335 11535 hgmd12;evn329;dbsnp25931;hgmd0613_365 NP_000434;NP_000434.1 "A1100T,A254T,C491R,D1087N,E1058K,E1165G,G983S,I1185V,I25N,I541F,K391Q,L102R,L238V,L73V,L861V,N1048K,R652G,R788P,S346I,S680R,T34M,T424M,T438M,T651N,T651S,T715I,T775M" "0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,1,1" 5244 1192 hgmd1300;sw3200;sws369;evn1101;dbsnp10074;hgmd0613_355 NP_000421;LIS1_HUMAN;NP_000421.1 "A166T,D317H,F31S,G162S,H149R,H277P,I207L,I320V,K64E,L85F,R241P,S169P,V325I,V39M,W261C" "0,1,1,1,1,1,0,0,0,0,1,1,0,0,0" 5048 8374 hgmd1301;pmd292.1;pmd293.2;pmd294.2;pmd916.1;pmd917.1;pmd1995.1;pmd2103.1;pmd3651.2;pmd3652.1;pmd3653.1;pmd3856.1;pmd4098.1;pmd4099.2;sw1440;spmut1525;evn1002;dbsnp3609;hgmd0613_230 NP_000268;PH4H_HUMAN;NP_000268.1 "A104D,A246D,A259T,A259V,A300S,A300V,A309D,A309V,A322G,A322T,A322V,A342T,A345S,A345T,A395G,A395P,A403V,A447D,A47V,C217G,C265G,C334S,C357G,D129Y,D143G,D145V,D151H,D222V,D282N,D338Y,D394A,D394H,D415N,D84Y,E178G,E183Q,E205A,E221G,E280K,E330D,E390G,E56D,E76A,E76G,F161S,F233L,F240S,F263L,F299C,F331L,F392I,F39L,F410S,F55L,G148S,G171A,G171R,G218V,G239S,G247V,G257C,G337V,G344R,G344V,G46S,H100R,H146Y,H170D,H170Q,H170R,H201R,H201Y,H264L,H271Y,H290Y,I164T,I174T,I174V,I224M,I269L,I283F,I283N,I306V,I318T,I421S,I65N,I65S,I65T,I65V,I97L,K274E,K320N,K341R,K341T,K42I,L194P,L212P,L213P,L242F,L248P,L249F,L255S,L255V,L311P,L333F,L347F,L348V,L41F,L41P,L430P,L48S,L62P,L98S,M276I,M276V,N167I,N167S,N207D,N207S,N61D,P173T,P175A,P211T,P225R,P225T,P244L,P275L,P281L,P314H,P314S,P362T,P366H,P407L,P407S,Q160P,Q172H,Q20L,Q226H,Q304R,Q375E,R155P,R157N,R157S,R158Q,R158W,R169H,R176L,R176P,R241C,R241H,R241L,R243Q,R252G,R252Q,R252W,R261P,R261Q,R270K,R270S,R297C,R297H,R408Q,R408W,R413P,R413S,R53H,R68S,S110C,S16P,S231F,S231P,S273F,S303P,S310F,S310Y,S349L,S349P,S350T,S40L,S67P,T124I,T238P,T278A,T278N,T372S,T380M,T418P,T92I,V177L,V177M,V190A,V230I,V245A,V245E,V245L,V388L,V388M,V45A,V60I,Y154N,Y204C,Y206D,Y277C,Y277D,Y325C,Y343C,Y377C,Y386C,Y387H,Y414C,Y417H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" 5053 6835 hgmd1302;evn900;dbsnp30812;dbsnp30813;dbsnp30814;hgmd0613_962 NP_002569;NP_001121638.1;NP_002569.1;NP_001121639.1 "A225T,A490T,A86E,E184D,G143R,G4S,M37T,P213Q,S212L,V190L,V215A" "0,0,0,0,0,0,0,0,0,0,0" 5063 5420 hgmd1303;sw6978;spmut1458;dbsnp7314;hgmd0613_2081 NP_078951;PALB2_HUMAN;NP_078951.2 "A1025T,A491T,A712V,D134N,D219G,E672Q,F728L,F776L,G1043A,G596E,H1170Y,H46Y,H526Q,I223T,I309V,I966V,K515R,L1143P,L337S,L939W,L947S,N241D,P864S,P8L,Q1114H,Q559R,R1086Q,R414Q,R566H,S1075G,S136R,S951P,T1099M,T470A,V1105A,V425M,V917A,V932M,Y334C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79728 1464 hgmd1304;sw9903;dbsnp16316;hgmd0613_2364 NP_705902;PANK2_HUMAN;NP_705902.2 "D46V,G126A,L111Q,R94P" "0,0,0,0" 80025 5162 hgmd1305;sw1276;evn918;dbsnp804;hgmd0613_1253 NP_004661;PAPS2_HUMAN;NP_004661.2 "A239T,A463T,A463V,E10K,G270D,L526P,M281L,P245L,R432K,S68P,T48R,V291M,V367A,V438I,Y65C" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 9060 4853 hgmd1306;sw794;spmut1624;evn589;dbsnp24614;hgmd0613_1232 NP_004553;PRKN2_HUMAN;NP_004553.2 "A339S,A371T,A46P,A46T,A82E,A92V,C212Y,C253Y,C289G,C418R,C431F,C441R,D184V,D18N,D243N,D280N,D394N,E310D,G284R,G328E,G430D,K161N,K211N,K211R,M192V,N58H,P113T,P153R,P37L,P437L,Q100H,Q311R,Q34R,R170G,R234Q,R256C,R271S,R275W,R334C,R33Q,R366W,R402C,R42P,S167N,T240M,T240R,T351P,T415N,V15M,V380L,Y267H" "0,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,0,0,1,1,1,1,1,1,1,0,0,1,1,1,0,1,1,0,1,1,0,1,1,1,0,1,1,0,1,1,1,1,1,0,0" 5071 7289 hgmd1307;sw9451;spmut1470;evn233;dbsnp14850;dbsnp14851;hgmd0613_1586 NP_009193;PARK7_HUMAN;NP_001116849.1;NP_009193.2 "A104T,A171S,A179T,A56T,D149A,E163K,E64D,G150S,L166P,M26I,R98Q,V35I" "1,0,0,0,1,1,1,0,1,1,1,0" 11315 13182 hgmd1308;sw2586;evn1074;dbsnp18462;hgmd0613_2431 NP_852122;PAX3_HUMAN;NP_852122.1 "A170T,A198V,D144Y,D349E,E167D,E194K,F238S,F45L,G48R,G81A,G99D,I344L,I384T,I59F,I59N,K175N,K85E,L433I,M128V,M12T,M62V,N47H,N47K,P382A,P50L,Q391H,R270C,R271C,R271G,R271H,R273K,R56L,S193R,S346P,S73L,S84F,T315K,T383A,T422A,V265F,V328I,V60M,V78M,W266C,W477C,Y90H" "0,0,0,0,0,0,1,1,1,1,1,0,0,1,1,0,1,0,0,0,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,1,0,0,0,1,0,1,1,1,0,1" 5077 6317 hgmd1309;evn740;dbsnp25985;hgmd0613_1470 NP_006184;NP_006184.2 "A330V,C282R,G162S,G63C,H321P,P111L,P303L,Q20H,R192H,R192S,R24W,R281T,R97C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5078 9646 hgmd130;dbsnp1259;hgmd0613_391 NP_000473;NP_000473.2 "A161S,G74S,N127K,Q385K,Q77H,R264Q,S147N,S353A,T367S,T85A,V13M,V307L,V336M" "1,0,0,0,0,1,0,0,0,0,0,0,0" 337 8653 hgmd1310;pmd535.1;pmd900.2;pmd3958.2;sw2652;evn829;hgmd0613_231 NP_000271;PAX6_HUMAN;NP_000271.1 "A321T,A33P,A79E,C52R,F258S,G183A,G183Q,G18W,G387D,G395R,G64V,G73D,I29S,I29V,I42S,I56T,I87K,I87R,L46R,M381V,N17S,P118R,P375Q,P68S,Q178H,Q378R,Q422R,R125C,R128C,R19P,R208Q,R208W,R242T,R26G,R44Q,S292I,S313T,S353A,S363P,S368T,S43P,T158A,T391A,T63P,V126D,V53D,V53L" "0,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,0,1,1,1,1,1" 5080 8101 hgmd1311;sw3708;spmut1475;evn414;dbsnp5785;hgmd0613_1471 NP_006185;PAX9_HUMAN;NP_006185.1 "A171T,G266S,G307S,G51S,S309P,T149A,T208S" "0,0,0,1,0,0,0" 5083 6068 hgmd1312;sw2058;spmut1673;evn649;dbsnp2198;dbsnp2199;dbsnp2200;hgmd0613_523 NP_000911;PYC_HUMAN;NP_000911.2;NP_071504.2;NP_001035806.1 "A1018T,A1071G,A1114V,A1132T,A460P,A610T,A711S,A935V,D996E,H178Q,H76L,I191V,I66V,K1043R,K1130R,K667T,M1095I,M743I,M828L,P561E,P561K,P821A,R1036H,R156Q,R270W,R451C,R583L,R631Q,T1057M,T175M,T525M,T57A,T750A,T750M,V1126A,V1131M,V145A,V166I,V206L,V29I,V417I,V528I,V64I,Y304C" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,1,1,1,1,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,1" 5091 1486 hgmd1313;pmd3658.1;pmd4120.2;sw3854;evn126;dbsnp1056;hgmd0613_232 NP_000272;PHS_HUMAN;NP_000272.1 "A10T,C82R,E97K,L28V,M50L,R88Q,T79I" "0,1,1,0,0,1,1" 5092 14594 hgmd1314;sw1694;evn124;dbsnp5174;hgmd0613_233 NP_000273;PCCA_HUMAN;NP_000273.2 "A138T,A310G,A75P,C398R,C398S,D368G,G197E,G379V,G631R,G668R,I164T,I74V,L38P,M229K,M373K,P423L,Q297R,R399Q,R49C,R77W,S520C,S582L,V507M,V551F,V580M,V673L,V68I,W559L" "1,0,1,1,0,1,1,1,1,1,1,0,0,1,1,1,1,1,0,1,0,0,0,1,0,0,0,1" 5095 3798 hgmd1315;sw1695;evn10;dbsnp20314;hgmd0613_437 NP_000523;PCCB_HUMAN;NP_000523.2 "A153P,A468T,A497V,C291Y,E168K,G112D,G131R,G188R,G198D,G246V,H258Q,I305S,I341V,I368V,I39T,I430L,K474R,L17M,L28V,L519P,M442T,N385S,N536D,P228L,P285S,P287S,R113Q,R165Q,R165W,R272Q,R410W,R44P,R512C,R67S,S106R,S27G,S282N,T185M,T304I,T428I,V107M,V10A,V205D,V25I,V288I,Y314C,Y435C,Y439C" "1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,1,0,1,0,1,1,0,1,1,0,0,0,1,1,0,1,1,1,1,1,0,0,0,0,1,1,0,1,0,0,0,1,1" 5096 5709 hgmd1316;sw9330;dbsnp265;hgmd0613_2196 NP_149045;PCD15_HUMAN;NP_149045.3 "A1631E,A1761S,A536P,A568T,A910S,C1778S,D435A,D447N,E1682K,E997G,F1777L,G100R,G1565S,G262D,G380S,G402A,H1497R,I812T,L1776P,M1853L,N221S,N419S,P1424R,P1442S,P1805L,P1812L,P292L,Q1342K,Q305E,R134G,R1355W,R1591K,R275H,R343K,R855W,R929Q,R962H,R962L,R964K,S1398R,S1785P,S19A,S317T,T1225A,T1802A,V115M,V1178I,V1578A,V550G,V634I,V861M,V970I,Y394C" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65217 446 hgmd1317;evn438;dbsnp29877 NP_001098713;NP_001098713.1 "A244S,I14V,N1002S,S1027P,S1079N,T1059A" "0,0,0,0,0,0" 57526 1563 hgmd1318;sw2738;evn430;dbsnp22890;hgmd0613_362 NP_000430;NEC1_HUMAN;NP_000430.3 "D454E,E463K,E702K,G483R,L15V,L693P,M125I,N221D,N639D,N753H,P680S,Q665E,R78S,R80Q,S307L,S47L,S690T,T175M,T640A,V304I" "0,0,0,1,0,0,1,0,0,0,0,0,0,0,1,0,0,1,0,0" 5122 3582 hgmd1319;sw7706;spmut1483;dbsnp13026;hgmd0613_2405 NP_777596;PCSK9_HUMAN;NP_777596.2 "A239D,A443T,A522T,A53V,D129G,D374H,D374Y,D432N,D660H,E482G,E498K,E57K,F216L,F515L,G106R,G176R,G236S,G394S,G452D,G670E,H391N,H417Q,H553R,L118F,L253F,L283M,N157K,N425S,P174S,P279T,P576L,P616L,Q219E,Q344K,Q554E,Q619P,R104H,R215H,R218S,R237W,R357H,R469W,R46L,R496W,R525T,R549H,R93C,R97C,S127R,S668R,T623N,T77I,V114A,V474I" "1,0,0,0,1,1,1,0,0,0,0,0,1,0,1,0,1,1,1,0,0,0,0,0,0,0,0,1,1,0,0,0,1,0,0,0,0,1,1,0,1,1,0,1,0,0,0,0,1,1,0,0,0,0" 255738 4143 hgmd131;sw6193;evn238;dbsnp1827;dbsnp1828;hgmd0613_2221 NP_443200;APOA5_HUMAN;NP_001160070.1;NP_443200.2 "A105S,A315V,D37E,G185C,G334V,L77V,R40M,R94Q,S19W,T292I,V153M,W170R" "0,0,0,0,0,0,0,0,0,0,0,0" 116519 9270 hgmd1320;sw2284;evn490;dbsnp23472;hgmd0613_363 NP_000431;PDE6A_HUMAN;NP_000431.2 "A145T,A262T,D290E,D800E,G850V,H655Y,K827Q,M55V,M680V,M94I,N216S,N405S,N651S,P293L,P512S,Q492H,Q569K,R102H,R102S,R582C,R582H,R790C,S303C,S344R,S573P,T253M,T514A,T679M,V115I,V277A,V391M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,0,1,1,1,0,0,0,0,0,0" 5145 2829 hgmd1321;dbsnp22336;hgmd0613_234 NP_000274;NP_000274.2 "A34V,D49Y,D776N,E166K,E654D,E791K,F499L,F797L,G236S,G302D,K824E,P115A,P115L,P125A,R265Q,R531Q,R74C,R761Q,R9Q,R9W,Y219H" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1" 5158 2829 hgmd1322;sw3489;sws416;evn486;dbsnp59;hgmd0613_1472 NP_006195;PDE6C_HUMAN;NP_006195.3 "A264V,A492T,D157E,D848N,E699A,E834G,K585N,K822N,L138S,M455V,M694I,N248D,N447D,P156S,R29W,S270T,T149M,T68I,T696M,V7D,Y323N" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,1" 5146 2829 hgmd1323;sw1266;evn471;dbsnp23942;hgmd0613_1100 NP_003710;PDE8B_HUMAN;NP_003710.1 "D755N,H305P,I423L,I423V,K698T,R121H,T72I,V420M,V64A" "0,1,0,0,0,0,0,0,0" 8622 2691 hgmd1324;pmd2104.1;sw2266;sws246;spmut1520;evn551;dbsnp22383;hgmd0613_1473 NP_006197;PGFRA_HUMAN;NP_006197.1 "A401D,D173N,D68N,D842V,D842Y,E715D,G426D,G429R,G79D,H570R,H650Q,H696R,I476V,I562M,I989V,K304R,L221F,L442P,L507P,L705P,L761R,L967V,N659K,N659S,P744S,R340Q,R374S,R481G,R487L,R748G,R764C,R764H,S478P,S53N,S66N,T200S,T432M,T440M,V484M,V561D,V608I,Y849C,Y849S" "0,0,0,1,1,0,0,0,0,1,1,0,0,1,0,0,0,0,1,1,0,0,1,1,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,1,0,1,1" 5156 1753 hgmd1325;pmd316.1;pmd1009.1;pmd1010.1;pmd1011.1;pmd2630.1;pmd2631.1;pmd2632.1;sw1838;evn858;dbsnp29768;hgmd0613_235 NP_000275;ODPA_HUMAN;NP_000275.1 "A199T,D258A,D315N,D33H,E333D,F205L,G162R,H113D,H292L,M210V,P217L,R10P,R263G,R263Q,R288H,R302C,R302H,R378H,R72C,S16A,S327N,T231A,V167M,Y243N" "1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1" 5160 7993 hgmd1326;pmd4121.1;pmd4122.1;sw2036;evn63;dbsnp21029;hgmd0613_524 NP_000916;ODPB_HUMAN;NP_000916.2 "A29T,G17R,I142M,L31V,M284V,P344S,Y132C" "0,0,1,0,0,1,1" 5162 9438 hgmd1327;sw5613;dbsnp810;hgmd0613_1677 NP_055132;DPS1_HUMAN;NP_055132.2 "D185N,D308E,E254Q,E386G,F136C,G30V,K197E,R352Q,S229C,S274N" "0,1,0,0,0,0,0,0,0,0" 23590 8272 hgmd1328;sw6984;dbsnp24933;hgmd0613_1939 NP_065114;DLP1_HUMAN;NP_065114.3 "F3L,N2H,R163H,R4P,S382L,T152M,V223I" "0,0,0,0,1,0,0" 57107 8595 hgmd1329;sw3597;evn724;dbsnp5289;hgmd0613_171 NP_000200;PDX1_HUMAN;NP_000200.1 "A140T,C18R,D76N,E164D,E178K,P17S,Q59L,R197H,S31G" "0,1,1,1,1,0,1,1,0" 3651 11214 hgmd132;dbsnp18055;hgmd0613_319 NP_000375;NP_000375.2 "A1042V,A1393V,A2365T,A2456D,A251T,A309T,A3354G,A3848T,A4481P,A4481T,A618V,D1113H,D1456N,D180Y,D1854N,D2299H,D3289E,E202D,E2169A,E2414D,E2531K,E2566D,E2566K,E3788K,E4181K,E4256K,E4256Q,F1437L,F299V,F3440V,F3753L,G1086S,G1812W,G3271S,G4395S,G4557A,G753E,H1923R,H2288Y,H3182N,H3975Y,I1555V,I203V,I2850M,I2877L,I3541L,I3732T,I408T,I4314V,I4482V,L1212M,L1238I,L3076M,L3313I,L3931V,M4013T,M4268T,N1914S,N2785H,N2961S,N2971T,N3628Y,P1067L,P1143S,P145S,P167S,P2821L,P554L,P954L,P955S,P994L,Q2765R,Q3432E,Q4368E,R1128C,R1128H,R1388H,R1689H,R214H,R3136C,R3638Q,R3638W,R3989C,R4046Q,R4270T,R437H,R439L,R439P,R439Q,R532W,R804H,S1293N,S1459G,S1613T,S2244N,S2429T,S3081N,S3081T,S3279G,S3294P,S3801T,S4233T,S4338N,S4423C,S4430T,T194M,T303N,T3047M,T3047R,T3385A,T3754I,T3785I,T3826K,T3826M,T3826R,T3940M,T3945A,T4484M,T741N,T98I,V2046I,V2394A,V2539I,V3921I,V4128M,V4265A,V4394A,V730I,W3594G,W3594R,Y103H,Y1247C,Y1247F,Y1247S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 338 50 hgmd1330;sw2111;evn15;dbsnp10801;hgmd0613_236 NP_000276;PEPD_HUMAN;NP_000276.2 "D276N,E170V,G278D,G345D,G448R,H377Q,I462M,L435F,M272V,R148C,R184Q,R388H,S167N,S251T,S8W,T137M,V456M" "1,0,1,0,1,0,0,0,0,0,1,0,0,0,0,0,0" 5184 6778 hgmd1331;sw513;sws48;spmut1510;evn726;dbsnp18116;hgmd0613_2039 NP_073728;PER2_HUMAN;NP_073728.1 "A5S,A828T,C1084R,F876L,F949Y,G1244E,H476N,K297E,K750Q,K87N,L83R,P372T,P684L,P72L,Q892R,R299Q,R401C,R773Q,R966Q,S1236L,S53L,S662G,T134M,T542A,V145M,V565A,V691L,V729I,V903I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 8864 1266 hgmd1332;sw780;evn1130;dbsnp26418;hgmd0613_383 NP_000457;PEX1_HUMAN;NP_000457.1 "A1237E,A381D,D1168E,D417N,G593R,G843D,I312V,I640R,I696M,L213F,L590R,L664P,L757F,M1125L,M1217I,M695T,N1124S,N271S,N375S,P882L,R798G,R948Q,S362L,T527A,V1011M,V734I,W507C" "1,0,0,0,1,1,0,0,0,0,1,1,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0" 5189 1197 hgmd1333;dbsnp14876;hgmd0613_2372 NP_722540;NP_722540.1 "G228R,G258R,L195F,M212V,P291L,R176Q,V249L" "0,0,0,0,0,0,0" 5192 9753 hgmd1334;sw381;evn96;dbsnp9535;hgmd0613_237 NP_000277;PEX12_HUMAN;NP_000277.1 "G241V,L137M,L245I,N233K,Q223R,R151C,R151H,R34S,S320F" "0,0,0,0,0,0,0,1,1" 5193 9439 hgmd1335;sw8652;evn247;dbsnp19352;hgmd0613_964 NP_002609;PEX13_HUMAN;NP_002609.1 "D225G,G92S,I326T,I394T,L360V,L48F,M298T,Q353P,S264T,S77T,V119I,V348I" "0,0,1,0,0,0,0,0,0,0,0,0" 5194 8516 hgmd1336;sw6671;evn622;dbsnp17688;dbsnp17689;hgmd0613_1859 NP_060399;PEX26_HUMAN;NP_001121121.1;NP_060399.1 "A243V,E215K,G89R,H278P,H278R,L153V,L221Q,L45P,Q208R,R304H,R98W,S296P,V137L,Y109H" "0,0,1,0,0,1,0,1,0,0,1,0,0,0" 55670 10748 hgmd1337;sw4544;evn156;dbsnp24544;hgmd0613_238 NP_000278;PEX6_HUMAN;NP_000278.3 "A549V,A586V,A79P,A809V,A924S,A979V,D559E,E33G,E391K,E502D,G206E,G470S,L75M,M548V,N557S,N849T,P274L,P728L,P939Q,Q227R,R229G,R343Q,R601Q,R812Q,R812W,R860Q,R860W,T573I,V882I" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,1,1,1,1,1,0,0" 5190 2181 hgmd1338;sw384;evn892;dbsnp25540;hgmd0613_239 NP_000279;PEX7_HUMAN;NP_000279.1 "A111T,A196G,A218V,G102E,G217R,M11T,Q126P,T14P,W140L" "0,0,1,0,1,0,0,1,0" 5191 10310 hgmd1339;sw1822;dbsnp3680;dbsnp3681;dbsnp3682;hgmd0613_240 NP_000280;K6PF_HUMAN;NP_001160160.1;NP_001160159.1;NP_000280.1 "D543A,G209D,H734R,I14T,I18V,I274V,N642S,Q447K,R39L,R39P,R696H" "1,1,0,0,0,0,0,0,1,1,1" 5213 2897 hgmd133;sw1567;dbsnp12357 NP_001636;APOC1_HUMAN;NP_001636.1 "I16M,K56R" "0,0" 341 14811 hgmd1340;evn67;dbsnp1201;hgmd0613_966 NP_002620;NP_002620.1 "A15T,A252V,G49A,I216M,K195E,L79V,L87F,N209D,P32S,R65W" "0,0,0,0,0,0,0,0,0,0" 5223 11715 hgmd1341;sw2213;dbsnp26081;hgmd0613_241 NP_000281;PGAM2_HUMAN;NP_000281.2 "A104T,E89A,G97D,I114S,K39Q,R90W,T227P,W167C" "0,1,1,0,0,1,0,0" 5224 11715 hgmd1342;pmd1447.1;pmd1655.1;pmd1656.1;pmd1657.1;pmd2379.1;sw1452;evn941;hgmd0613_242 NP_000282;PGK1_HUMAN;NP_000282.1 "C316R,D164V,D268N,D285V,D315N,E252A,G158V,H125Y,L88P,R206P,R350Q,V116I,V266M" "1,1,1,1,1,1,1,0,1,1,0,0,1" 5230 8228 hgmd1343;sw3046;evn1095;dbsnp13144;hgmd0613_967 NP_002624;PGM1_HUMAN;NP_002624.2 "I88V,K68M,M276V,Q13P,R221C,S191L,S346N,T115A,T467N,V501I,V525I,Y420H" "0,0,0,0,0,0,0,1,0,0,0,0" 5236 5413 hgmd1344;pmd973.1;pmd974.2;sw1731;spmut1621;dbsnp1601;hgmd0613_525 NP_000917;PRGR_HUMAN;NP_000917.3 "A120V,A444S,A50T,C347S,I51T,L651V,M301R,P186L,P352L,Q536P,Q682H,Q75K,R625I,R740Q,S344T,S378R,S865L,V529L,V660L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5241 2411 hgmd1345;evn19;dbsnp30575;hgmd0613_1529 NP_006658;NP_006658.1 "D15E,H165R,S190G" "0,1,0" 10857 11987 hgmd1346;sw3943;dbsnp30696;hgmd0613_366 NP_000435;PHEX_HUMAN;NP_000435.3 "A242G,A573D,A720T,C142F,C693Y,C733S,C746W,C77S,C85F,C85R,C85Y,D237G,F252S,F731Y,F80S,G579V,L138P,L160R,L555P,M253I,N680K,P534L,Q621R,R166C,R567P,R651P,S141P,W530C,W749R,Y317F" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 5251 3615 hgmd1347;sw7123;evn996;hgmd0613_2167 NP_115834;PHF6_HUMAN;NP_001015877.1 "C45Y,C99F,E35A,H229R,I352L,K234E,R257G,S154A,S158N,T358I,T78M,V350I,V350L,V5I" "1,1,0,1,0,1,1,0,0,0,0,0,0,0" 84295 9291 hgmd1348;evn255;dbsnp30349;hgmd0613_1729 NP_055922;NP_055922.1 "D241N,D73E,E711K,M602V,M607I,N967D,P462A,R360K,R907H,S529N,S583C,S790G,S932F,V477M,V88I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23133 1854 hgmd1349;pmd1356.2;sw641;evn111;dbsnp14460;hgmd0613_1525 NP_006614;SERA_HUMAN;NP_006614.2 "A373T,A520E,A528V,D462G,F418L,G228W,G377S,I482M,I93V,L193V,L199V,N403D,Q46H,Q523P,R135W,R268W,S371N,T207S,V261M,V425M,V490M,V525A" "1,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,1,1,1,0" 26227 6085 hgmd134;pmd1384.1;pmd2757.1;pmd2758.1;sw1568;evn549;dbsnp10728;hgmd0613_392 NP_000474;APOC2_HUMAN;NP_000474.2 "D29N,E60K,K41T,K77Q,M31T,T3I,V12I,W48R" "0,1,1,0,0,0,0,1" 344 14629 hgmd1350;sw3257;evn883;dbsnp30593;hgmd0613_968 NP_002628;KPB1_HUMAN;NP_002628.2 "A1171T,A1181P,A15G,A669V,D299V,D381N,D756N,G596E,K352R,L627Q,Q1043H,Q724R,Q779K,R1117H,R555Q,R655G,R727W,R802G,R821H,S484A,T453A,Y828C" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5255 1321 hgmd1351;sw3256;evn884;dbsnp30156;hgmd0613_243 NP_000283;KPB2_HUMAN;NP_000283.1 "A420T,A466T,C934W,D299G,E1125K,E38Q,E986K,G1207W,G122S,G126D,G193V,G416R,G800R,G808S,H132P,H132Y,H662Q,I262S,I545M,I693V,K189E,L648P,M1113I,M538V,M716V,N630D,P1205L,P399S,P498L,P789S,P869R,Q527E,R186C,R186H,R295H,R352Q,R367H,R916W,S1028F,T1114I,T158A,T521A,T651N,T802A,T981A,Y1222H" "0,0,0,1,1,0,0,1,0,0,1,0,0,0,1,1,0,0,0,0,1,0,1,0,0,0,1,1,1,0,1,0,1,1,1,0,0,1,0,1,0,0,0,0,0,0" 5256 1321 hgmd1352;sw8673;sws981;evn118;dbsnp7849;hgmd0613_244 NP_000284;KPBB_HUMAN;NP_000284.1 "A118P,D134N,E820V,G570E,G78S,H398Q,I1045T,I192V,K692R,L539F,N1085T,N173S,N544S,N920S,P525H,P865A,Q540H,Q657K,Q776K,Q832K,R1041Q,R1041W,R429Q,R436H,R614H,R951L,S261A,T146A,T157I,T393I,V762I,Y167C,Y770C" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5257 1740 hgmd1353;sw2236;evn1044;dbsnp8036;hgmd0613_245 NP_000285;PHKG2_HUMAN;NP_000285.1 "A317T,A395V,D215N,E157K,E247G,G181S,G189E,G86S,H348R,P299S,R135W,R185L,R185Q,V106E" "0,0,1,1,0,0,1,0,0,0,0,0,0,1" 5261 8188 hgmd1354;sw461;evn362;hgmd0613_1323 NP_005160;PHX2A_HUMAN;NP_005160.2 "A161S,A72V,P256Q" "0,1,0" 401 10546 hgmd1355;sw9441;evn1151;dbsnp22365;hgmd0613_1132 NP_003915;PHX2B_HUMAN;NP_003915.2 "G197D,G239S,G278S,N211S,Q143R,R100L,R141G,R141Q,S176T" "1,0,0,0,1,1,1,1,0" 8929 10546 hgmd1356;pmd299.2;pmd936.1;sw467;dbsnp607;hgmd0613_1475 NP_006205;PAHX_HUMAN;NP_006205.1 "A76V,D177G,D254N,E197Q,F257S,G204S,G215S,H175R,H220Y,I199F,N202K,N269H,N83Y,P173S,Q176K,R201G,R245Q,R275Q,R275W,R82G,T119M,V190I,V318M,W193R" "0,1,0,1,1,1,0,1,1,1,0,1,1,1,1,0,1,1,1,0,0,0,0,1" 5264 9937 hgmd1357;sw11769;evn265;dbsnp18111;hgmd0613_1723 NP_055855;FYV1_HUMAN;NP_055855.2 "A1690V,A850V,A901T,A962T,A973P,D985N,E894D,G1592R,I1056V,I1538V,I229V,I911L,K1103R,L1198P,L932S,L946V,L967F,M1541T,M617V,N1330S,N682S,P1545A,P818S,P968A,Q1183K,Q78L,Q995L,R123C,R1858Q,R396Q,R572Q,S1033A,S1124C,S1199N,S1586Y,S1695G,S1706L,S329G,S696N,T1032A,T1479S,T1730A,T1799I,T961A,T998S,V1425I,V1425L,V1605G,V2031I,Y864F" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200576 379 hgmd1358;sw9806;sws1099;evn290;dbsnp13215;hgmd0613_2164 NP_115785;PINK1_HUMAN;NP_115785.1 "A124V,A168P,A217D,A232V,A280T,A339T,A340T,A383T,A537T,A541S,C125G,C377F,C388R,C575R,C92F,D362H,D525N,E231G,E240K,E417G,G309D,G386A,G395V,G409V,G411S,H271Q,I111S,I442T,K186N,L148W,L249V,L268V,L347P,L369P,L461R,L461S,L489P,L67F,M318L,M341I,N235I,N451S,N521T,N542S,P196L,P196S,P209L,P296L,P305A,P305L,P322L,P399L,P425S,Q115L,Q126P,Q456R,Q467R,R147H,R263G,R276Q,R279C,R279H,R407Q,R464H,R501P,R501Q,R68P,R98W,S284Y,S477T,T145M,T257I,T313M,V317I,Y431H" "1,1,1,0,1,1,0,1,0,0,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,0,0,1,0,1,0,1,1,0,1,1,0,1,1,0,0,1,1,1,0,1,0,0,1,1,0,0,1,1,1,0,0,1,1,0,0,1,0,1,1,1" 65018 5392 hgmd1359;sw818;spmut1532;dbsnp11448;hgmd0613_1625 NP_036530;PI51C_HUMAN;NP_036530.1 "A338T,A568V,A656T,D253N,G460S,G88S,P659S,R331C,R386H,R550G" "0,0,0,1,0,0,0,0,0,0" 23396 4394 hgmd135;pmd62.1;pmd63.2;pmd3389.1;sw1569;dbsnp3195;hgmd0613_24 NP_000031;APOC3_HUMAN;NP_000031.1 "A43T,K78E,T94A" "1,1,1" 345 14656 hgmd1360;sw9905;dbsnp9176;hgmd0613_2134 NP_112497;PITM3_HUMAN;NP_112497.2 "A80T,A80V,E489A,G145W,P17S,Q626H,R493W,R703W,V181I" "0,0,0,0,0,1,0,0,0" 83394 2215 hgmd1361;sw3908;evn305;dbsnp23065;hgmd0613_969 NP_002644;PITX1_HUMAN;NP_002644.4 "A72T,D81E,E130K,G299A" "0,0,1,0" 5307 10306 hgmd1362;evn446;dbsnp21990;dbsnp21992;hgmd0613_2361 NP_700476;NP_001191328.1;NP_700476.1 "A135P,A135T,A30P,A30T,D18E,E31D,G23S,M154V,N255K,S20G" "0,0,0,0,0,0,0,0,0,0" 5308 10306 hgmd1363;sw994;evn388;dbsnp1055;hgmd0613_1304 NP_005020;PITX3_HUMAN;NP_005020.1 "A249N,G221A,H283P,Q27P,S132G,S13N,S263I,S57T,V235M" "0,0,0,0,0,1,0,0,0" 5309 10306 hgmd1365;sw4531;spmut1552;dbsnp21866;hgmd0613_247 NP_000288;PKD2_HUMAN;NP_000288.1 "A356P,A384P,C632R,D511V,E956K,F482C,I452V,M800L,P24L,R251Q,R28P,R306Q,R322Q,R322W,R417Q,R420G,R807Q,R896H,R907Q,R910P,S804N,T238S,T635S,V519M,V834I,W414G" "1,1,1,1,0,0,0,1,0,0,0,1,1,1,0,1,1,0,0,0,0,0,0,0,0,1" 5311 2244 hgmd1366;sw1872;sws198;dbsnp24423;hgmd0613_2272 NP_619639;PKHD1_HUMAN;NP_619639.3 "A1030E,A1150P,A1254G,A1262V,A1484T,A17S,A17V,A2009T,A2212G,A2579V,A2615G,A293V,A3072V,A3207T,A748V,C1204Y,C1249W,C1472Y,C2422G,C2422R,C2688F,C2803R,C3346R,C3622Y,D1942G,D2433V,D2528N,D2761Y,D2962G,D3052Y,D3088N,D3139Y,D3293V,D3668Y,D703N,E1448G,E1995G,E218K,E2431V,E3502V,E3529Q,E3551K,E457D,F253L,F372L,F586V,G1122S,G1123S,G112R,G1712R,G1971D,G2210E,G2224R,G223S,G2285E,G2782A,G326V,G3511R,G448R,G466E,G470V,G573W,G942A,H1318N,H3049R,H3124Y,H3160Y,H3630Y,H686P,I1998T,I222V,I2303F,I2331K,I2364N,I246T,I25V,I292V,I2957T,I307T,I3081V,I3167L,I3177T,I3404V,I3462V,I3468V,I3553T,I3905N,I473S,I539T,I757L,K626R,L1407R,L1709F,L1870V,L2106R,L2134P,L2772P,M2804K,M2841V,M3642I,M638T,M997K,N1698S,N2071H,N2261S,N3175D,N3175S,N53S,N830S,P1284L,P1389T,P145R,P1486L,P2356L,P2582S,P3780S,P3783S,P676R,P724R,P739L,P805L,Q1917R,Q1923L,Q3899R,Q4048R,Q815R,R1280C,R1624W,R1909W,R1911C,R2237K,R2573C,R3107P,R3143I,R3482C,R3620H,R3842L,R3842Q,R3913H,R3957C,R488P,R488W,R496P,R559Q,R723C,R760C,R760H,R760W,R92Q,R92W,S1283L,S1584I,S1664F,S1833L,S1867N,S2219L,S2635F,S2635Y,S2861G,S2983L,S3018F,S3289I,S3435N,S3505R,T1125P,T1615M,T1781I,T2082I,T2436I,T2641A,T2869K,T2938M,T36M,T436S,T579M,T642I,T721M,T752M,T879M,T899P,V1741M,V1789L,V1817G,V1875G,V2032L,V2559L,V2798G,V3036G,V3185I,V3193I,V3219A,V3263A,V3440D,V3471G,V3837I,V3934I,V3960I,V419I,V732F,W1229S,W1928L,W656C,W852R,Y1136C,Y1838C,Y255C,Y2661H,Y2863C,Y486H" "1,0,0,0,0,0,1,1,0,0,0,1,0,1,0,0,1,1,1,1,1,1,1,1,1,0,0,1,1,0,0,0,1,0,1,0,1,1,1,1,1,0,0,1,1,0,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,0,0,0,1,1,0,0,1,1,1,1,1,0,1,0,1,1,1,1,1,1,0,0,1,1,0,1,1,1,0,1,1,0,1,1,1,1,0,1,0,1,0,0,0,1,1,0,0,0,1,0,1,0,0,0,1,1,1,1,1,1,1,0,0,0,0,1,0,0,0,1,0,0,1,0,0,0,0,1,0,0,1,0,0,0,1,0,0,1,0,1,1,1,1,1,0,0,1,1,1,1,0,0,0,0,1,0,0,1,0,0,1,0,0,0,0,0,0,1,1,1,1,1,1,0,1,1,0,0,1,0,0,1,0,0,0,0,0,0,1,1,0,0,1,1,1,1,1" 5314 73 hgmd1367;pmd1012.1;pmd1339.1;pmd3957.1;sw2839;dbsnp14331;hgmd0613_248 NP_000289;KPYR_HUMAN;NP_000289.1 "A115P,A154T,A295V,A31V,A336S,A352D,A392T,A394D,A394V,A431T,A459V,A468G,A468V,A495T,A495V,D281N,D293N,D331E,D331N,D339H,D390N,E172Q,E277K,E315K,E387G,E427A,E427D,F287V,G111R,G159V,G165V,G222A,G263R,G263W,G332S,G341A,G341D,G358E,G364D,G37E,G458D,G511R,G557A,G95R,I153T,I219T,I310N,I314T,I342F,I357T,I90N,K348N,L155P,L272V,L374P,L73H,L73P,M107T,N361D,N393K,N393S,N566K,Q421K,R163C,R163L,R273H,R337P,R337Q,R359C,R359H,R385W,R40W,R426Q,R426W,R479H,R486W,R488Q,R490W,R498C,R498H,R504L,R510Q,R531C,R532Q,R532W,R559G,R569Q,R86P,R99C,S120F,S130Y,S376I,S485F,S80P,T384M,T408A,T408I,T477A,V134D,V288L,V320L,V335M,V368F,V460M,V506I,V552M" "1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 5313 5086 hgmd1368;sw2185;evn927;dbsnp7014;hgmd0613_970 NP_002645;KPYM_HUMAN;NP_002645.3 "A147T,A214V,G204V,N155S,Q329H,R56Q,S249A,V194L" "0,0,0,0,0,0,0,0" 5315 5086 hgmd1369;sw9543;dbsnp3423;hgmd0613_1233 NP_004563;PKP2_HUMAN;NP_004563.2 "A195V,A236S,A264V,A372P,A474T,A478V,A65V,C796R,D26N,D829N,E137K,E58D,F424S,G305E,G489R,G673V,G741V,I531S,I822F,K654Q,L366P,L787F,M365V,N517S,N696S,P276S,Q62K,R101H,R490W,R811S,S140F,S155T,S169G,S615F,S70I,T338A,T526M,T798A,V587I,Y631C" "0,0,0,0,0,0,0,1,1,0,1,0,1,0,1,1,0,0,0,1,1,1,0,0,0,0,1,0,0,1,1,0,1,1,0,1,1,0,1,1" 5318 2707 hgmd136;sw1675;dbsnp19902 NP_001638;APOD_HUMAN;NP_001638.1 "F15S,K187E,P102A,S115L,T178K,V76L,V76M,Y128C" "0,0,0,0,0,0,0,0" 347 13181 hgmd1370;pmd927.1;pmd928.2;pmd929.3;pmd930.4;pmd3092.1;pmd4102.1;pmd4331.1;pmd4332.2;pmd4333.2;pmd4485.1;dbsnp14691;hgmd0613_2066 NP_077734;PA24A_HUMAN;NP_077734.1 "E119K,G103R,I637V,T108S,V224I" "0,0,0,0,0" 5321 3616 hgmd1371;dbsnp17686;hgmd0613_1078 NP_003551;NP_003551.2 "A147T,A343T,D183N,G539S,H109D,I334M,N49S,R139H,R237H,R461W,R63G,R6C,R70Q,S142I,S258L,S34L,S774T,T319M,T476I,T575M,V58I,V690I" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8398 3166 hgmd1372;sw4401;spmut1452;evn1109;dbsnp24512;dbsnp24513;hgmd0613_1307 NP_005075;PAFA_HUMAN;NP_001161829.1;NP_005075.3 "D263N,E410G,E414D,F51I,H399R,I198T,I42M,K191N,L389S,L45P,N378D,N426S,P137L,P62S,Q281R,R182I,R223Q,R82C,R82H,R82S,R92H,S50I,S50N,T278M,V279F,V379A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0" 7941 7737 hgmd1373;sw3494;evn347;dbsnp20040 NP_006216;PLCD1_HUMAN;NP_006216.2 "D231N,G299S,G449E,G613A,H126R,I174V,I574T,I700V,K170T,N612K,Q573H,Q742R,R257H,R293C,R399C,R476C,R609Q,R60Q,R731C,R80H,S161R,S460L,T209R,T217N,T686A,V663L" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 5333 3393 hgmd1374;sw11142;spmut1563;evn1063;dbsnp334;hgmd0613_1802 NP_057425;PLCE1_HUMAN;NP_057425.3 "A1869S,A581T,A643S,A643T,E1368H,G1094A,G1094V,G722S,H1927R,H830R,I523V,I810V,M1919T,M2104V,M6I,M724T,P1890L,P371A,Q56R,R1575P,R394H,R548L,S1000N,S1484L,S317N,S469T,T1106A,T1742A,T1743M,T1777I,V1564A,V171A,V446D,V850L,V850M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 51196 302 hgmd1375;sw6997;evn410;dbsnp4049;hgmd0613_2204 NP_149114;PLCZ1_HUMAN;NP_149114.2 "G558S,H308R,I120M,I74T,L272S,R141C,R151G,S500L,T356M" "0,0,0,0,0,0,0,0,0" 89869 5040 hgmd1376;sw484;sws40;dbsnp8758 NP_002654;PLD2_HUMAN;NP_002654.3 "A788G,A788V,A804T,D35N,E632G,G686A,G746R,G821R,G821S,H278Y,I639T,I755V,L929R,P198L,P525L,R172C,R180C,R330Q,R336W,R490C,R553Q,R835Q,S294C,T569A,T577I,T693R,Y47N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5338 2412 hgmd1377;dbsnp27588;hgmd0613_367 NP_000436;NP_000436.2 "A2084V,A2132V,A2450T,A2761E,A2761V,A3061V,A3576V,A531V,A877T,D2967E,D3894H,E1583K,E2864K,E2896D,E2896G,E2896Q,E4091K,F3539L,G3348R,G3380A,G873S,H1349R,I2755V,I2837M,I741V,K1317R,L1211V,L2892V,R1234L,R1276Q,R1423H,R1744Q,R1744W,R1800K,R2040W,R2698Q,R2711W,R2859H,R3178H,R596Q,S2020I,S2681P,T1030S,T1097A,T2447M,T3376M,T3582M,T4315S,T4429M,T4429R,V3052I,V3396L,Y2857C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5339 43 hgmd1378;dbsnp13905;dbsnp13906;dbsnp13907;hgmd0613_1951 NP_065682;NP_001036130.1;NP_065682.2;NP_001036129.1 "A340V,A414T,D310N,E717K,G178R,G810S,G943R,I87T,M440V,P12T,P170L,P575L,P575R,Q865R,R191W,R30C,R332W,R628K,R842Q,R857C,R859H,R861C,S232I,T238S,V103M,V22M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57449 1777 hgmd1379;sw11894;dbsnp8866;hgmd0613_1709 NP_055613;PKHM1_HUMAN;NP_055613.1 "A1044T,A665T,G545R,G727S,L252V,P450T,P455T,R1047H,R304W,R377H,S490F,T49P" "0,0,0,0,0,0,0,0,0,0,0,0" 9842 1868 hgmd137;pmd64.1;pmd538.2;pmd1385.1;pmd1386.2;pmd1612.1;pmd1613.1;pmd1631.3;pmd1692.1;pmd1723.1;pmd1724.1;pmd1725.2;pmd1850.1;pmd1851.1;pmd1852.1;pmd1915.4;pmd1916.5;pmd2232.1;pmd2415.1;pmd2416.1;pmd2451.1;pmd3390.1;pmd3391.1;pmd3392.1;pmd3532.1;pmd3533.1;pmd4293.1;pmd4294.2;pmd4295.1;sw1566;dbsnp10760;hgmd0613_25 NP_000032;APOE_HUMAN;NP_000032.1 "A117T,A124V,A170P,E21K,E262K,E263K,E31K,G145D,K164E,K164Q,L270E,L46P,P102R,Q64H,Q99K,R152Q,R154C,R154S,R160C,R163H,R163P,R242Q,R246C,R269G,R292H,R43C,S314R,T11A,T11S,T60A,V254E" "0,0,0,1,0,0,1,1,1,1,0,0,0,1,0,0,1,1,1,1,1,0,1,1,0,1,0,0,0,0,0" 348 10461 hgmd1380;pmd232.1;pmd233.2;pmd300.1;pmd3524.1;pmd3525.1;pmd3526.1;pmd3864.1;pmd3865.1;pmd4104.1;pmd4105.1;pmd4106.2;pmd4522.1;pmd4523.2;pmd4524.3;sw1462;spmut1569;dbsnp24977;hgmd0613_249 NP_000292;PLMN_HUMAN;NP_000292.1 "A494V,A620T,D258N,D472N,E57K,G420D,G579R,G751R,H133Q,H133R,I46R,I682N,K38E,K453I,L147P,M88I,P169T,R134K,R172G,R235H,R253H,R261H,R343W,R408W,R490Q,R523W,R532H,R89K,S460R,S591P,T114M,T200A,T500M,V374F,V676D,V676I,Y165H" "0,1,0,0,0,0,0,1,0,0,0,0,1,0,1,0,0,0,0,1,1,0,0,0,0,0,1,0,0,1,0,0,0,1,0,0,0" 5340 51 hgmd1381;sw2665;hgmd0613_972 NP_002658;PPLA_HUMAN R9C 1 5350 14931 hgmd1382;pmd212.2;pmd4068.1;sw4102;sws498;spmut1570;evn874;dbsnp13631;hgmd0613_250 NP_000293;PLOD1_HUMAN;NP_000293.2 "A120S,A667T,A84P,A84T,A99T,E528K,E67D,G59A,G678R,H706R,I487V,I689V,K185N,K185R,L9P,N583D,P597S,Q339E,R203H,R259H,R46H,R512C,S469P,T246N,T268A,V381M,V643I,W446G,W612C,Y556C" "0,1,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0" 5351 3716 hgmd1383;sw349;evn496;dbsnp21447 NP_000926;PLOD2_HUMAN;NP_000926.2 "C282R,C4S,E370K,E683K,G601V,I218V,M376L,R178H,R484H,R598H,T196I,T608I,V198I,V345I,V391L,Y526H" "0,0,0,0,1,0,0,0,0,1,0,1,0,0,0,0" 5352 3539 hgmd1384;sw858;evn1069;dbsnp26775;hgmd0613_640 NP_001075;PLOD3_HUMAN;NP_001075.1 "A151V,A344T,A365T,A395T,A464T,D190E,D382H,E384K,E560Q,H510Y,I179V,I250T,I250V,L330V,M474T,N223S,N271K,P296H,P296R,P489L,P662Q,R235W,R286W,R297Q,R404H,R468G,R468W,R67Q,S346F,T247M,T288A,T629M,V328L,V360L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8985 3716 hgmd1385;sw3828;evn509;hgmd0613_438 NP_000524;MYPR_HUMAN;NP_000524.3 "A214S,A242P,A243E,A243V,A247T,A248E,A249P,A39T,A76P,C169R,C220Y,C228Y,C33Y,C35R,C35Y,D203E,D203G,D203H,D203N,D203V,F189S,F189T,F237S,F32L,F32V,F51S,G147E,G217S,G221C,G246A,G246E,H130Y,H140Y,H148Y,I187T,K151N,L210H,L224I,L224P,L225P,L239P,L31P,L46P,L46R,P15L,P173S,P211L,P216A,P216L,P216S,Q234P,R137W,R205G,S170F,S170P,S199T,S226P,S253F,T116K,T156I,T182P,T183N,T43I,V161I,V162E,V166E,V166G,V172A,V172I,V209D,V219F,V252I,W163R,W181C,W212R,Y175C,Y207C,Y50C,Y55F,Y60C" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,0,1,1,1,1,1,1,0,1" 5354 11319 hgmd1386;sw573;dbsnp7588;hgmd0613_251 NP_000294;PMM2_HUMAN;NP_000294.1 "A108V,A233T,C103F,C192G,C241S,C9Y,D148N,D185G,D188G,D217E,D223E,D223N,D65Y,E139K,E151G,E219D,E93A,F119L,F11C,F144L,F157S,F172V,F183S,F206S,G117R,G15E,G175R,G176V,G208A,G214S,G228C,G228R,G42R,H195R,H218L,I120T,I132F,I132N,I132T,I153T,L104V,L32R,M212V,N101K,N216I,N216S,P113L,P131A,P20S,P69S,Q177H,Q37H,Q37L,R123Q,R141C,R141H,R162W,R238G,R238H,R238P,T226S,T237M,T237R,V129M,V231M,V44A,V44L,V67M,Y106C,Y229S,Y64C,Y76C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1" 5373 11659 hgmd1387;sw4038;dbsnp9611;dbsnp9612;dbsnp9613;hgmd0613_252 NP_000295;PMP22_HUMAN;NP_000295.1;NP_696996.1;NP_696997.1 "A135T,A67P,A67T,C109R,D37V,G100E,G100R,G107V,G150C,G150D,G93R,H12Q,I137V,L105R,L147R,L16P,L19P,L71P,L80P,L80R,L90V,M69K,R157G,R157W,S149R,S22F,S72L,S72P,S72W,S76I,S79C,S79P,T118M,T23R,V30M,V65F,W28R" "0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 5376 13714 hgmd1388;sw3637;evn612;dbsnp18274;hgmd0613_439 NP_000525;PMS1_HUMAN;NP_000525.1 "E27Q,E537K,E59K,E720D,E723K,F179Y,G501R,H128R,I103V,K548R,M394T,N632S,N784S,Q437H,R147K,R202K,R883C,S39G,S529N,T334M,T75I,T806S,V387I,Y793H" "0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 5378 2419 hgmd1389;dbsnp26129;hgmd0613_440 NP_000526;NP_000526.1 "A127T,A572T,D526N,D526Y,D784N,E308D,E41K,E537K,G29A,H479Q,I18V,I787F,L166P,L42I,L571I,M312I,M622I,N324K,N570D,Q400P,Q598H,R107W,R427H,R443S,R563L,R563Q,R799W,S128L,S523T,T277K,T277M,T277R,T485K,T511A,T511M,T558N,T573S,T728A,Y318C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5395 2815 hgmd138;sw1673;spmut15;evn666;dbsnp17156;hgmd0613_393 NP_000475;A4_HUMAN;NP_000475.1 "A201V,A235V,A344V,A358T,A692G,A713T,A713V,D678N,D694N,E501K,E599K,E665D,E693G,E693K,E693Q,I661V,I716V,K670N,L350R,L705V,L723P,M671L,P584R,Q354R,R359Q,R469H,R643H,S198P,S614G,T714A,T714I,V715M,V717F,V717G,V717I,V717L" "0,0,0,0,1,1,1,1,1,0,0,1,1,1,1,0,1,1,0,1,1,1,0,0,0,0,0,0,0,1,1,1,1,1,1,1" 351 3439 hgmd1390;sw7458;evn65;dbsnp19465;hgmd0613_1755 NP_056303;PNKD_HUMAN;NP_056303.3 "A7V,A9V,D137N,E307D,E307K,G89R,H108R,R152Q,R320Q,R85H,R94Q,S178N,Y366C" "1,1,0,0,0,0,0,0,0,0,0,0,0" 25953 8885 hgmd1391;sw9426;dbsnp11542;hgmd0613_1584 NP_009185;PNKP_HUMAN;NP_009185.2 "A63V,E113K,E326K,E508K,L176F,P20S,R139H,R180C,R180S,R504G,S388L,T103I,T217S,V478G,Y196C,Y196N" "0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0" 11284 6274 hgmd1392;sw8742;spmut1571;evn456;dbsnp2806;hgmd0613_1938 NP_065109;PLPL2_HUMAN;NP_065109.1 "G483R,L219F,L322F,L481P,N252K,N426S,P195L,P265S,P315S,R79Q,V37L" "0,0,0,0,0,0,1,0,0,0,0" 57104 6575 hgmd1393;evn371;dbsnp11800;dbsnp11802;hgmd0613_1530 NP_006693;NP_001159585.1;NP_006693.3 "A1295T,A1324T,A364P,A412T,D914H,D914N,F503L,G1322S,I739V,L410Q,P1320L,P362T,P447L,Q1163H,Q1200E,Q1200K,Q1312H,Q462R,R1232C,R1314H,R88K,S438L,T1225A,V22L,V749M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10908 1024 hgmd1394;sw10875;evn1028;dbsnp9572;hgmd0613_1875 NP_060599;PNPO_HUMAN;NP_060599.1 "E50K,H52P,L56R,P245S,P92L,R116Q,R229W,R233Q,V210F,Y256C" "0,0,0,0,0,0,1,0,0,0" 55163 11666 hgmd1395;sw3627;evn966;dbsnp6624;dbsnp6625;hgmd0613_974 NP_002684;DPOG1_HUMAN;NP_001119603.1;NP_002684.1 "A1105T,A467T,A767D,A889T,A957P,A957S,D1184N,D1186H,D136E,E1136K,E481D,E662K,G1051R,G1076V,G252S,G268A,G380D,G431V,G517V,G737R,G848S,G923D,H1110Y,H1134R,H277L,H613Y,H932Y,K1191N,K501R,L244P,L304R,L392V,L463F,L69P,L966R,M603L,N468D,N736S,N864S,P18S,P324S,P325S,P587L,P648R,Q1236H,Q226H,Q308H,Q497H,Q50P,Q879H,R1047Q,R1096C,R1096H,R1142W,R1146C,R193Q,R227W,R232G,R232H,R309L,R3P,R546C,R562Q,R574W,R579W,R617C,R627Q,R627W,R807C,R807P,R853W,R943H,R953C,S1104C,S1176L,S1181N,S511N,T251A,T251I,T555S,T885S,T914P,V1044A,V1106I,V229G,W312R,W748S,Y831C,Y955C" "1,1,1,1,1,1,1,1,0,1,0,0,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,0,0,1,1,1,1,1,0,0,0,1,1,0,0,1,1,0,1,1,1,1,0,1,0,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,0,1,0,1,1,1,1,0,1,1,1,1" 5428 1310 hgmd1396;sw11367;evn885;dbsnp8837;hgmd0613_1583 NP_009146;DPOG2_HUMAN;NP_009146.2 "A169T,D386E,G232S,G41E,G451E,G61R,H133Y,I156V,L153V,L199V,Q223P,Q29P,R225P,R225Q,S423Y,T235A" "0,1,0,0,1,0,0,0,1,0,0,0,0,0,1,0" 11232 6911 hgmd1397;sw11724;sws1331;spmut1584;evn269;dbsnp24833;hgmd0613_1515 NP_006493;POLH_HUMAN;NP_006493.1 "G209V,I272T,K394R,L584P,M595V,M647L,N623T,Q524H,R334G,R334W,R371C,S582L,S675Y,T329I,T478M,V613A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5429 3935 hgmd1398;pmd683.1;sw11323;spmut536;evn340;dbsnp453;dbsnp454 NP_037406;DPOLL_HUMAN;NP_001167555.1;NP_037406.1 "A58T,E148G,E330D,G356S,G468D,I375V,I491V,P303S,Q14K,R45Q,R485Q,R57W,S339F,S497R,T221P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27343 5478 hgmd1399;sw1500;dbsnp18922;dbsnp18923;hgmd0613_593 NP_001030333;COLI_HUMAN;NP_000930.1;NP_001030333.1 "A195T,D106N,D53G,E214G,P132A,P62L,R236G,R236Q,R25H,S7T,S94G,S9L,Y221C" "1,0,0,0,1,0,1,0,0,1,0,1,0" 5443 11537 hgmd139;pmd1624.1;pmd2218.1;pmd2927.1;sw1789;evn80;dbsnp7820;hgmd0613_394 NP_000476;APT_HUMAN;NP_000476.1 "C153R,D65V,K114T,L110P,M136T,P31L,Q121R,R165K,R89Q,V150F" "1,1,0,1,1,0,0,0,0,1" 353 13352 hgmd13;evn160;dbsnp29675;hgmd0613_1180 NP_004290;NP_004290.2 "A52T,A581V,D600N,E434K,G291C,G485S,G499R,G76R,H23Q,I122V,I393V,I401M,L4P,M6V,N74S,P576A,Q454R,Q68H,R314Q,R547K,S8T,W41R" "0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 22 3581 hgmd1400;dbsnp14258;hgmd0613_1840 NP_060209;NP_060209.3 "A366V,D556N,D569G,F163Y,F566V,G502C,I65F,P154H,P202H,P464S,Q199K,Q408L,R129W,R16W,R90H,S108I,S108R,S280N,T433M,V101I,V119M,V504I" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55624 3631 hgmd1401;dbsnp28815;hgmd0613_1578 NP_009102;NP_009102.3 "A641V,A709V,D433E,G398R,H529Y,P653L,Q630R,R251W,R410H,R522K,R635H,R735C,R745Q,S129P,V327I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10585 3633 hgmd1402;sw11506;evn780;dbsnp5835;hgmd0613_1645 NP_037514;POMT2_HUMAN;NP_037514.2 "A10V,A217T,A54E,A630S,D218N,E510K,E78Q,F717S,G246D,G353S,G482V,G726E,I198N,R349W,R413P,R421Q,T184M,V373F,V55A,V635I,W695R,W748R,W748S,Y666C" "0,0,0,0,0,0,0,1,1,1,1,1,1,0,1,0,1,1,0,0,0,1,1,1" 29954 3607 hgmd1403;sw2675;spmut1585;evn150;dbsnp25869;hgmd0613_368 NP_000437;PON1_HUMAN;NP_000437.3 "A126T,A201V,C42R,I102V,L55M,M127R,M196I,M289K,N19D,Q192R,R160G" "0,0,1,0,0,0,0,0,0,0,0" 5444 9532 hgmd1404;dbsnp25908;hgmd0613_253 NP_000296;NP_000296.2 "I120V,P274L,R305C,S31F,V172L" "0,0,0,0,0" 5445 9532 hgmd1405;evn580;dbsnp26062;hgmd0613_531 NP_000932;NP_000932.3 "A503V,E300K,F204S,I256M,I665V,L36V,L577P,M263V,M31V,Q614R,R517C,R600W" "0,0,0,0,0,0,0,1,0,0,0,0" 5447 4267 hgmd1406;sw10156;evn267;dbsnp30653;hgmd0613_2494 NP_982301;PORCN_HUMAN;NP_982301.1 "A336G,A374P,C187R,C385R,C385Y,E361V,G168R,G60R,H252Y,H341L,L221F,L331R,N222D,R188Q,R228C,R365G,R365Q,S136F,S151L,S297L,T148A,V258E,W439R" "0,1,0,1,1,1,1,1,1,1,0,1,0,0,1,1,1,1,0,1,0,1,1" 64840 7379 hgmd1407;pmd904.2;pmd942.1;pmd2375.2;pmd3607.1;pmd3608.2;sw2697;evn896;dbsnp20096;hgmd0613_254 NP_000297;PIT1_HUMAN;NP_000297.1 "A158P,A19V,A71T,D227Y,E174G,E230K,F135C,F233S,H40Q,M124V,P239S,P24L,Q4R,R113W,R143Q,R172Q,R271W,S179R,S279N,T11S,W193R" "1,0,0,0,1,1,1,1,0,0,1,1,0,0,1,1,1,1,0,0,1" 5449 10488 hgmd1408;sw3380;sws400;evn258;dbsnp30488 NP_000298;PO3F4_HUMAN;NP_000298.2 "A312V,G237A,K334E,L317W,N121T,P47S,R323G,R330S,S13T,T73A,V289A,V352M" "1,0,1,1,0,0,1,1,0,0,0,0" 5456 9379 hgmd1409;sw4852;evn696;dbsnp24078;hgmd0613_975 NP_002691;PO4F3_HUMAN;NP_002691.1 "A102T,D77G,G27S,K277R,L223P,L289F,M173L,N316K,S171R,S6A,S6T,S93P,T166A" "0,0,0,0,1,1,0,0,0,0,0,0,0" 5459 8181 hgmd140;evn712;dbsnp28988;dbsnp28990;hgmd0613_2408 NP_778243;NP_001182178.1;NP_778243.1 "A217T,K153E,L248M,N64S,P310L,Q324L,R199H,S144Y,S212N" "0,0,0,0,0,0,1,0,0" 54840 9518 hgmd1410;sw4226;spmut1598;evn1085;dbsnp17413;dbsnp17414 NP_005027;PPARA_HUMAN;NP_001001928.1;NP_005027.2 "A268V,D243N,D304N,G395R,G50S,K449T,Q413L,R127Q,R409T,S21T,T82I,V227A" "0,0,0,0,0,0,0,0,0,0,0,0" 5465 6556 hgmd1411;sw3066;sws354;evn489;dbsnp20228;hgmd0613_1774 NP_056953;PPARG_HUMAN;NP_056953.2 "E54D,F388L,I45F,M29I,N124S,P113Q,P12A,P130A,P40A,P495L,R425C,V318M,V335L,V89M" "0,1,0,0,0,1,0,0,0,1,1,1,0,0" 5468 6556 hgmd1412;sw2563;evn679;dbsnp6819;hgmd0613_532 NP_000933;PPIB_HUMAN;NP_000933.1 "A32V,I61V,K92R,M9R,V42I,V60L" "0,0,0,1,0,0" 5479 12604 hgmd1413;pmd3657.2;pmd4119.2;sw3451;dbsnp14451;dbsnp14452;hgmd0613_257 NP_000300;PPOX_HUMAN;NP_000300.1;NP_001116236.1 "A433P,D349A,E234K,E387D,G169E,G232R,G358R,R152C,R168C,R304H,R59W,S261R,T193A" "1,1,0,0,1,1,1,1,1,0,1,0,0" 5498 7054 hgmd1414;pmd291.1;pmd908.1;pmd909.2;pmd910.3;sw3478;evn243;dbsnp13461;hgmd0613_258 NP_000301;PPT1_HUMAN;NP_000301.1 "A98T,C152Y,C45Y,D79G,E184K,E254D,G108R,G250V,G42E,H187R,H39Q,I134T,I190L,I190V,I302V,I54V,L14F,L219Q,L222P,L305P,M1I,P189R,Q177E,Q279H,R122W,S138L,T75P,V181L,V181M,V228G,W296R,W38C,Y109D,Y247H" "0,1,1,1,1,0,1,1,1,1,1,0,0,0,0,0,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1" 5538 10729 hgmd1415;sws101;spmut1612;evn771;dbsnp30318;dbsnp30319;dbsnp30320;dbsnp30321;dbsnp30322;hgmd0613_1412 NP_005701;PQBP1_HUMAN;NP_001027553.1;NP_005701.1;NP_001027554.1;NP_001027555.1;NP_001027556.1 "L124P,R144H,S120G" "0,0,0" 10084 11578 hgmd1416;sw4026;hgmd0613_624 NP_001071088;PRCD_HUMAN "C2Y,R17C,V30M" "1,0,1" 768206 14928 hgmd1417;sw2171;dbsnp746;dbsnp747;hgmd0613_643 NP_001076585;PERF_HUMAN;NP_001076585.1;NP_005032.2 "A235V,A437V,A91V,C279Y,G334S,G429E,I224N,N252S,P188L,P345L,R123H,R225Q,R225W,R28C,R357Q,R4C,R4H,R54H,T289M,V135M,V183G,V50M" "0,0,0,1,1,1,1,1,1,1,1,0,1,0,0,0,0,0,0,0,1,1" 5551 5764 hgmd1418;sw9189;evn769;dbsnp3914;dbsnp3915;dbsnp3916;dbsnp3917;hgmd0613_2353 NP_694571;PRIC1_HUMAN;NP_001138353.1;NP_694571.2;NP_001138355.1;NP_001138354.1 "A124T,D771N,E501D,E757K,I69T,K623N,N554S,N554T,N662H,N81H,P746S,P802S,Q399H,R104Q,R144H,R682C,S451N,S464N,S739A,S739F,S799C,T275M,T416M,T691A,V121I,V125A,W516S,Y472H" "0,1,0,0,1,0,0,0,0,1,0,0,0,1,1,1,0,0,0,1,0,1,0,0,0,0,0,1" 144165 2934 hgmd1419;sw11312;spmut20;dbsnp26717;hgmd0613_1795 NP_057287;AAKG2_HUMAN;NP_057287.2 "H383R,M6L,N488I,P206L,P69L,P83S,R302Q,R531G,R531Q,R84W,S194L,S20I,T174M,T400N,V533G" "1,0,1,0,0,0,1,1,1,0,0,0,0,1,0" 51422 5557 hgmd141;pmd68.1;pmd596.1;pmd3293.1;pmd3387.1;sw2766;evn226;dbsnp26706;hgmd0613_2461 NP_932766;AQP1_HUMAN;NP_932766.1 "G165D,I115V,P38L,S235N,T120N,V107G,V107I,V52L" "0,0,1,0,0,0,0,0" 358 11502 hgmd1420;sw11311;dbsnp18065;hgmd0613_1823 NP_059127;AAKG3_HUMAN;NP_059127.2 "A482V,D195N,D485N,F139L,G223S,L153M,L153V,P71A,Q260R,R340W,S336F" "0,0,0,0,0,0,0,0,0,0,0" 53632 6857 hgmd1421;sw2005;evn436;hgmd0613_976 NP_002725;KAP0_HUMAN;NP_002725.1 "A111T,A213D,D183Y,G289W,R146S,R74C,S9N,Y373H" "0,1,1,1,1,1,1,1" 5573 8948 hgmd1422;sw1685;evn127;dbsnp12389;hgmd0613_977 NP_002730;KPCG_HUMAN;NP_002730.1 "A523D,D246V,E605Q,G128D,H101Y,H415Q,R141C,R213Q,R580W,R624Q,R659S,S119P,S687G,V175I,V583M,V692G,V8G" "0,0,0,1,1,0,0,0,0,0,1,1,0,0,0,1,0" 5582 4097 hgmd1423;sw2172;dbsnp11538;hgmd0613_978 NP_002734;GLU2B_HUMAN;NP_002734.2 "A251S,A251V,A291P,A291T,A326T,A338G,D270G,D288N,D524Y,E210K,I453V,K59R,K59T,P513L,R139H,R152W,S74N,V424A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 5589 6164 hgmd1424;sw1034;spmut1625;evn959;dbsnp18893;hgmd0613_1097 NP_003681;PRKRA_HUMAN;NP_003681.1 "A266T,D262E,D58G,E9A,I105T,I226N,L229M,L229V,M1L,M1V,P11L,P127L,P222L" "0,0,0,0,0,0,0,0,0,0,0,0,1" 8575 10573 hgmd1425;pmd972.1;sw1635;spmut1622;evn182;dbsnp16190;dbsnp16191;dbsnp16192;dbsnp16193;dbsnp16194;hgmd0613_259 NP_000302;PRIO_HUMAN;NP_000302.1;NP_001073592.1;NP_001073591.1;NP_001073590.1;NP_898902.1 "A117V,D178N,D202N,E168Q,E196K,E200K,E211Q,F198S,G131V,G142S,H187R,M129V,M232R,P102L,P105L,P105S,P105T,P238S,Q212P,Q217R,R148H,R208H,T183A,T188K,T188R,V180I,V203I,V210I" "1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 5621 11836 hgmd1426;pmd30.1;pmd569.1;pmd570.1;pmd571.1;pmd982.1;pmd1371.2;pmd2105.1;pmd2328.1;pmd2558.1;pmd2889.1;pmd2986.1;pmd3302.1;pmd3303.1;pmd3304.1;pmd3305.1;pmd3306.1;pmd3307.1;pmd3308.1;pmd3309.1;pmd3310.1;pmd3589.1;pmd3710.2;pmd3867.1;pmd4492.1;sw1626;evn1141;dbsnp19641;hgmd0613_260 NP_000303;PROC_HUMAN;NP_000303.1 "A178P,A301T,A301V,A309T,A388T,A388V,A43T,C147Y,C183R,C426Y,D401N,E49D,E62A,F118L,G109R,G114R,G145R,G18S,G324R,G334S,G343D,G392R,G418D,G423S,G433S,G89C,H108N,H149P,H176Q,H244Y,H253Q,I243T,I445M,L265F,M385I,N298D,N371D,P210L,P289L,P321L,P369L,Q226H,R189W,R194C,R211Q,R211W,R220P,R220Q,R220W,R271Q,R271W,R272C,R328C,R328H,R32C,R38W,R394W,R42C,R42H,R42S,R51C,R57G,R57Q,R57W,S161R,S294N,S312L,S312P,T340M,T436N,V367A,V76M,W14G,W444C,Y441H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 5624 7380 hgmd1427;sw11624;dbsnp16105;hgmd0613_1502 NP_006395;EPCR_HUMAN;NP_006395.2 "E77G,P145L,R113C,S88P,V187L" "0,0,1,0,1" 10544 12160 hgmd1428;dbsnp17447;hgmd0613_1801 NP_057419;NP_057419.4 "A472T,E153K,H520Y,N204S,N422S,N488S,P19Q,P406L,P8L,R103S,R185Q,R217C,R217H,R217S,R376Q,R432H,R577W,R579Q,T275N,T357P,V427M,V554M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5625 5129 hgmd1429;sw10511;dbsnp21251;hgmd0613_678 NP_001119600;PROK2_HUMAN;NP_001119600.1 "F99S,G32R,P111Q,R73C" "0,1,0,1" 60675 14255 hgmd142;pmd1387.2;pmd1388.2;pmd1393.3;pmd3385.1;pmd3386.1;pmd4302.1;sw3125;spmut121;evn1128;dbsnp4106;hgmd0613_395 NP_000477;AQP2_HUMAN;NP_000477.1 "A147T,A190T,A47V,A65V,A70D,A87T,C181W,E258K,G100R,G100V,G175R,G180S,G64R,G78S,L121F,L22V,L28P,N68S,P185A,P262L,Q57P,R187C,R187H,R254L,R254Q,R5H,S216P,T125M,T126M,V168M,V194I,V71M,V83F,V83L,W202C" "1,1,1,0,1,0,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,0,1" 359 11231 hgmd1430;sw7859;evn51;dbsnp16741;hgmd0613_2307 NP_658986;PKR2_HUMAN;NP_658986.1 "A51T,D364E,L173R,M323I,P12R,P290S,Q210R,R164Q,R264C,R268C,R85C,R85G,R85H,T11A,T335M,T374A,V297I,V331M,W178S" "0,0,1,1,0,1,1,1,0,0,1,1,1,0,0,0,0,0,1" 128674 8726 hgmd1431;sw697;evn173;dbsnp22763;hgmd0613_1444 NP_006008;PROM1_HUMAN;NP_006008.1 "A31G,A31S,A408E,F79V,H310R,H584R,L321F,L400P,L80I,R373C,R526Q,S19A,T315I" "0,0,0,0,0,0,0,0,0,1,0,0,0" 8842 2797 hgmd1432;dbsnp23195;hgmd0613_1480 NP_006252;NP_006252.3 "A142T,A142V,R129C" "0,0,0" 5626 12406 hgmd1433;pmd1366.1;pmd1367.2;sw1763;sws183;spmut1629;evn886;dbsnp19903;hgmd0613_261 NP_000304;PROS_HUMAN;NP_000304.2 "A525P,A616P,A616V,A68D,C121Y,C161G,C175F,C186Y,C241S,C247G,C265R,C265W,C267S,C449S,C475R,C568Y,C639F,C639Y,C666R,C88Y,D129G,D157G,D243N,D245G,D294N,D376N,D599H,E204G,E249K,E390K,E67A,F72C,G336D,G336S,G336V,G357R,G381D,G381V,G482C,G521D,G52D,G638D,G95E,G95R,H664P,I495V,I559M,I562L,I644S,K196E,K364E,K50E,L15H,L300P,L339P,L351P,L446P,L526S,L552S,L575R,L584Q,L622R,M385V,M611K,M611T,M640T,N166Y,N168S,N177D,N188S,N258S,N583H,N643I,P667L,P76L,R101C,R111S,R233K,R355H,R40L,R41H,R515C,R515P,R561G,R90C,R90H,S324P,S501A,S501P,S502G,S665L,T144N,T532A,T588A,T630I,T78M,T98S,V18E,V35I,V508G,V508M,V510M,V87L,W149C,W383R,Y234C,Y266C,Y485C,Y636C" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,0,0,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1" 5627 4306 hgmd1434;sw2552;dbsnp5030;hgmd0613_1127 NP_003882;PROZ_HUMAN;NP_003882.1 "E198K,E259V,E70K,I62N,L11V,L291F,L292F,P90R,R181C,R252W,V34I" "0,0,1,0,0,0,0,0,0,0,0" 8858 8114 hgmd1435;sw684;evn168;dbsnp15765;hgmd0613_1254 NP_004689;PRPF3_HUMAN;NP_004689.1 "D57E,E10D,E404Q,I272V,I530V,K12N,K380R,M469T,N405K,N430S,P173T,P493S,R369K,S681G,T167A,T366A,T402A,T402R,T494M,T682A,V490I" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0" 9129 4239 hgmd1436;sw8441;spmut1630;evn931;dbsnp12563;hgmd0613_1763 NP_056444;PRP31_HUMAN;NP_056444.3 "A194E,A216P,A31T,E181D,E188G,G491S,L496I,L496T,M65K,M65V,T50S,Y70C" "1,1,0,0,0,0,0,0,0,0,0,0" 26121 6684 hgmd1437;sw6097;spmut1631;evn139;dbsnp8724;hgmd0613_1509 NP_006436;PRP8_HUMAN;NP_006436.3 "D1286V,F2304L,F2314L,F387I,G2161S,H2309P,H2309R,I1961V,K68E,L404V,L413I,N1293H,N322T,P1738R,P2301T,P372L,P874L,R227H,R2310G,R2310K,T418S,Y2334N" "0,1,1,0,0,1,1,0,0,0,0,0,0,0,1,0,0,0,1,1,0,1" 10594 293 hgmd1438;evn923;dbsnp4452;hgmd0613_1481 NP_006253;NP_006253.2 "E156Q,N418S,R435W,R446Q" "0,0,0,0" 5630 7197 hgmd1439;evn162;dbsnp24335;hgmd0613_269 NP_000313;NP_000313.2 "D338A,D338G,D338V,E302D,I161M,Q304E,R310K,S289L" "0,1,0,0,0,0,0,1" 5961 9754 hgmd143;dbsnp29700;hgmd0613_27 NP_000035;NP_000035.2 "I665T,I843T,L548F,P342Q,Q61L,S598G,T559S" "1,1,1,0,0,1,0" 367 2494 hgmd1440;pmd2616.1;sw3849;sws461;spmut1632;evn778;dbsnp30075;hgmd0613_980 NP_002755;PRPS1_HUMAN;NP_002755.1 "A190V,A87T,D183H,D52H,D65N,E43D,G306R,G61S,H193Q,I290T,K282R,L129I,L152P,M115T,N114S,Q133P,Q288E,R156K,V112A" "1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,0,0,0" 5631 10386 hgmd1441;pmd1344.1;pmd1411.2;sw1779;sws185;spmut2231;dbsnp26887;hgmd0613_981 NP_002760;TRY1_HUMAN;NP_002760.1 "C139F,C206S,D153H,D22G,E79K,G49V,I53N,K237E,K237N,K23R,L104P,N241D,N29T,P3L,Q209E,R116C,R122C,R122H,R68C" "1,0,0,1,1,0,0,0,0,1,1,0,1,0,0,1,1,1,0" 5644 10773 hgmd1442;sw1780 NP_002761;TRY2_HUMAN A117V 0 5645 10773 hgmd1443;sw9805;dbsnp10836;hgmd0613_2436 NP_870998;PRAX_HUMAN;NP_870998.2 "A1316V,A1456P,A149T,A244V,A367D,A406T,E1037G,E1073G,E1259K,E1280Q,E495Q,E752K,G1125S,G1132R,G1241D,G428R,G879R,I921M,K1062N,K935E,L1194V,L504F,M673V,P1083R,P1166S,P351S,P466L,P663S,P748L,P850A,R1070Q,R1411C,R1422Q,R167C,R45G,V1225M,V525A,V551M,V701M,V832L,V882A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57716 884 hgmd1444;sw1786;spmut1871;evn1148;dbsnp1126;hgmd0613_983 NP_002769;SAP_HUMAN;NP_002769.1 "A30S,C241S,C388F,D193G,D193H,I496V,L233V,L349P,L6F,N215H,N215K,Q190H,R186H,T217I,T38M,V197I,V461M" "0,1,1,0,0,0,0,1,0,1,1,0,0,1,0,0,0" 5660 6180 hgmd1445;sw12025;evn311;dbsnp28968;hgmd0613_2232 NP_478059;SERC_HUMAN;NP_478059.1 "A234S,A265T,C80S,D100A,I123V,I273T,N236H,P295R,P87A,R61W,V149M" "0,0,0,1,0,0,0,0,0,0,0" 29968 9190 hgmd1446;pmd301.1;pmd302.1;pmd582.1;pmd956.3;pmd957.4;pmd958.1;pmd959.2;pmd960.1;pmd961.1;pmd962.1;pmd963.1;pmd964.2;pmd965.2;pmd966.1;pmd967.1;pmd968.1;pmd969.2;pmd4107.1;pmd4108.2;pmd4109.1;pmd4110.2;pmd4111.1;pmd4259.1;pmd4260.1;pmd4488.1;pmd4635.3;sw3419;sws406;spmut1643;evn1031;dbsnp5441;hgmd0613_7 NP_000012;PSN1_HUMAN;NP_000012.1 "A231T,A231V,A246E,A260V,A285V,A409T,A426P,A431E,A79V,C263R,C410Y,C92S,D333G,E120K,E280A,E280G,F105L,F205L,G206A,G209R,G209V,G266S,G378E,G384A,H163R,H163Y,I143F,I143T,I213T,L113P,L166P,L171P,L173W,L174M,L219P,L235P,L250S,L262F,L271V,L282R,L286P,L286R,L286V,L392V,L435F,M139K,M139T,M139V,M146V,M233T,N135D,N405S,N58S,P117L,P264L,P267S,P267T,P436Q,P436S,R269G,R269H,R278T,S169L,S169P,S289C,S390I,T116N,T147I,V261G,V82L,V96F,W165C,Y115C,Y115H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1" 5663 7250 hgmd1447;pmd5.1;pmd954.1;pmd955.2;pmd970.1;pmd971.1;sw3427;spmut1644;evn690;dbsnp14837;hgmd0613_369 NP_000438;PSN2_HUMAN;NP_000438.2 "A252T,E54D,G70R,M239I,M239V,N141I,P129A,R62H,T122P,T301M,T380K,T44I,V148I,V64I" "0,0,0,1,1,1,0,1,1,1,0,0,1,0" 5664 7250 hgmd1448;spmut1509;evn729;hgmd0613_2383 NP_758844;PEN2_HUMAN;NP_758844.1 S73T 0 55851 14630 hgmd1449;sw3904;spmut1902;evn1113;dbsnp26957;hgmd0613_1234 NP_004568;SERB_HUMAN;NP_004568.2 "D32G,D32N,G39S,G90S,H170R,H4R,L68P,M52T,P57S,Q83H,R27S,R49Q,R49W,R65H,S114I,T149M,T152I,V217A,V2I" "0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 5723 12431 hgmd144;sw12050;sws1363;spmut215;evn822;dbsnp16434;hgmd0613_1505 NP_006411;BIG2_HUMAN;NP_006411.2 "A1203V,A20D,A238V,A527V,A701T,C1690G,E1496D,E209K,G1016R,G1298S,I432V,I601M,L1043F,L1391Q,L19R,P271A,P57S,P58S,Q998L,R1092H,R496K,S124N,T1488S,T165A,T1688I,T597M,V630I,V675I" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10564 525 hgmd1450;sw720;spmut1604;dbsnp6917;hgmd0613_1137 NP_003969;PPIP1_HUMAN;NP_003969.2 "A151S,A230T,A280V,E106K,E155D,E250Q,G258A,Q146H,Q156H,Q48H,R149L,S79F" "0,1,0,0,0,1,0,0,0,0,0,0" 9051 8248 hgmd1451;sw4554;evn221;dbsnp28396;hgmd0613_217 NP_000255;PTC1_HUMAN;NP_000255.2 "A1337D,A167T,A393T,A42G,A443G,A7V,D436N,D513Y,D894N,E1242K,E1438D,E684K,E836G,F376S,G1023D,G1069R,G1163S,G509R,G509V,H634R,L175P,P1282L,P1282R,P1306A,P1307R,P1315L,P725S,R1114W,R1350W,R1391W,R1442Q,R1442W,R665H,R85K,S1132P,S1132Y,S620N,S698T,S827G,T1052M,T1214M,T230P,T728M,V1256M,V1381M,V1386A,V751G,V829M,V908G" "0,0,1,0,1,0,0,1,0,1,1,0,0,1,0,1,0,1,1,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,1,1,0,0,1,1,0,1,1,0,0,0,1,1,1" 5727 900 hgmd1452;sw12047;dbsnp14495;hgmd0613_1104 NP_003729;PTC2_HUMAN;NP_003729.3 "A1024V,E346Q,E493K,G151V,H622N,H622Y,I1121M,Q245H,R208C,R358H,R665H,R779P,R898H,T988M,V1019M,V1062M,V1094L,V503I,V564M,V93L,V995M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8643 1411 hgmd1453;pmd288.1;pmd290.2;pmd536.1;pmd905.1;pmd1204.1;pmd1205.2;pmd1206.1;pmd3936.1;pmd4240.1;pmd4241.1;pmd4472.1;pmd4473.1;pmd4623.1;sw3843;sws460;spmut1645;evn1021;dbsnp1109;hgmd0613_262 NP_000305;PTEN_HUMAN;NP_000305.3 "A121G,A121P,A34D,C105F,C105Y,C124R,C124S,C136Y,C71Y,D107Y,D252G,D331G,D92A,F238L,F241S,F341V,F347L,G129E,G129R,G132V,G165E,G165R,G165V,G20E,G251C,G36E,G36R,H123R,H123Y,H61D,H61R,H93R,H93Y,I135V,I67R,K13E,K289E,K342N,L112P,L112R,L316Q,L345Q,L42R,L57W,L70P,M134L,M35R,N228T,P246L,R130G,R130L,R130Q,R15S,R173C,R173H,R173P,R234Q,R47G,S10N,S170N,S170R,S227F,S294R,T167P,T348I,T398S,T401I,V119L,V133I,V158L,V191A,V290L,V343E,V369G,Y155C,Y16C,Y174N,Y27S,Y68H" "1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,1,1,0,0,1,0,1,1,0,1,0,1,0,0,0,1" 5728 8517 hgmd1454;sw3203;spmut1531;evn79;dbsnp11325 NP_000951;PI2R_HUMAN;NP_000951.1 "A379T,C346W,D267N,G231R,P362L,R45H,S319W,V25M,V371M" "0,0,0,0,0,0,0,0,0" 5739 8871 hgmd1455;sw2559;spmut1522;dbsnp28349 NP_000953;PGH1_HUMAN;NP_000953.2 "A430V,D157G,E259A,G434S,I443V,I557V,K341R,K359R,P17L,P527S,P527T,P71S,R149H,R149L,V481I,W138R,W8R,W8S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5742 5087 hgmd1456;pmd906.1;pmd2100.1;pmd2101.1;pmd2102.2;pmd2614.1;pmd2615.2;pmd3095.1;sw1512;spmut1651;evn581;hgmd0613_263 NP_000306;PTHY_HUMAN;NP_000306.1 "C18R,D6G,S23P" "1,0,1" 5741 14463 hgmd1457;sw4128;spmut1649;evn547;dbsnp21206;dbsnp21207;hgmd0613_264 NP_000307;PTH1R_HUMAN;NP_000307.1;NP_001171673.1 "E546K,E546Q,G100D,G76R,H223R,I458R,P132L,R150C,R43H,S61N,T410P,T410R,T525A" "0,0,0,0,1,1,1,1,0,0,1,1,0" 5745 5223 hgmd1458;sw2088;sws225;spmut1650;evn836;hgmd0613_2473 NP_945316;PTHR_HUMAN;NP_945316.1 "L44P,L60P,P92S" "1,1,0" 5744 13411 hgmd1459;evn1067;dbsnp4321;hgmd0613_984 NP_002825;NP_002825.3 "A550V,A570T,H293Q,K590R,M450V,N308D,P568S,Q347R,S189A,S554G,S576N,T553M,V45A,Y375C" "0,0,0,0,0,1,0,0,0,0,0,1,0,0" 5781 4860 hgmd145;pmd597.1;pmd1394.1;pmd3634.2;pmd3704.1;pmd3705.2;pmd4303.1;sw1674;evn889;dbsnp25323;hgmd0613_28 NP_000036;ARGI1_HUMAN;NP_000036.2 "D128G,G138V,G82D,H141L,I11T,K266N,K89Q,L318P,S94T,T290S" "1,1,0,1,1,0,0,0,0,1" 383 9555 hgmd1460;pmd3493.2;pmd4271.1;sw4123;spmut1667;hgmd0613_265 NP_000308;PTPS_HUMAN "D116G,D136G,D136V,D96N,E35G,F100V,I114V,K129E,L26F,N36K,N47D,N52S,P87L,P87S,R16C,R25G,R25Q,T106M,T67M,V124L,V56M,V70D,V97M,Y99C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 5805 14006 hgmd1461;sw12021;sws1362;dbsnp4589;hgmd0613_2108 NP_079491;TRUA_HUMAN;NP_079491.2 "A359V,E227K,L277M,R144W,T405M" "0,0,0,1,0" 80324 7997 hgmd1462;evn215;dbsnp2967;hgmd0613_986 NP_002846;NP_002846.3 "D461E,E330K,E344K,G44S,G480S,G507E,I357T,M501L,R199Q,R210H,R212H,R348H,V28A,V395M,V502F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5818 6358 hgmd1463;dbsnp27877;dbsnp27878;dbsnp27879;dbsnp27880;hgmd0613_266 NP_000309;NP_001165558.1;NP_001165557.1;NP_001073336.1;NP_000309.1 "A245T,G149S,G241V,Q31E,R94S,S90F,W250R" "0,0,0,0,0,0,0" 5828 10749 hgmd1464;sw2902;spmut1440;dbsnp10030;hgmd0613_1552 NP_008838;P5CR1_HUMAN;NP_008838.2 "A179T,A189V,A257T,G206R,G206W,G248E,G297R,L300P,R112W,R119G,R119H,R251H,R266Q,T59M" "1,0,1,1,1,1,0,0,0,1,1,1,1,0" 5831 10404 hgmd1465;sw1742;evn151;dbsnp5470;hgmd0613_989 NP_002854;PYGL_HUMAN;NP_002854.3 "A452T,D761E,E122K,E553K,G159S,I716V,I806L,K470N,L688V,N339S,N377K,N839K,N845H,N845S,N847H,P382L,P830T,Q823R,R310C,R321H,R414K,R425H,R425P,R715S,S31G,T49P,T552K,T586M,T59M,T661A,V222I,V231E,V231M,V530I,V698G,Y204C,Y733H" "0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5836 2911 hgmd1466;sw2040;evn967;dbsnp1478;hgmd0613_1401 NP_005600;PYGM_HUMAN;NP_005600.1 "A193S,A249D,A365V,A418T,A636T,A660D,A670V,A687P,A704V,D629Y,E349K,E655K,F54V,G173R,G205S,G21S,I513V,I762M,K543T,L116P,L292P,L397P,L653V,N188K,N283S,N413Y,N596S,N685Y,Q666E,R194Q,R194W,R371K,R414G,R602W,R61H,R622K,R640H,R642C,R642H,R800Q,R816C,R816H,R832S,T395M,T488N,V239A,V624I,V630M,W798R" "0,0,1,0,0,1,1,1,1,0,1,1,0,0,1,0,0,0,1,1,1,1,0,0,0,0,0,1,1,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1" 5837 2911 hgmd1467;dbsnp8772 NP_004151;NP_004151.3 "L73P,T72R" "0,0" 5697 14691 hgmd1468;pmd2753.1;sw1888;dbsnp22619;hgmd0613_267 NP_000311;DHPR_HUMAN;NP_000311.2 "E196D,F212C,G149R,G151S,G170S,G17R,G17V,G18D,G23D,H158Y,L14P,L74P,P145L,Q66R,S200R,S51T,W108G,W36R,Y150C" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1" 5860 12027 hgmd1469;sw11529;evn638;dbsnp24468;dbsnp24469;hgmd0613_2450 NP_899050;RAB23_HUMAN;NP_057361.3;NP_899050.1 "C85R,E179A,G207S,K40R,M12K,S101A,T116A,T184M" "1,0,0,0,1,0,0,0" 51715 12176 hgmd146;dbsnp27554;hgmd0613_1699 NP_055444;NP_055444.2 "A1124T,A1222E,A1331V,A134V,A781V,D1218E,D1255N,E114K,E841G,F517C,G1229A,H733Y,H834R,I623V,L1107I,L370F,M536I,M664T,P1325S,P47S,Q1215R,Q393H,Q544L,R1297W,R1320S,R288H,R541S,R656H,S1290L,S1305L,S251L,S688N,S984A,T691M,T919P,T970M,V1144F,V1318M,V307M,V325M,V700I,V938I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9639 1032 hgmd1470;sw3488;spmut1716;dbsnp6913;dbsnp6914;dbsnp6915;dbsnp6916;hgmd0613_1235 NP_004571;RB27A_HUMAN;NP_004571.2;NP_899057.1;NP_899058.1;NP_899059.1 "A152P,L130P,L84F,Q140E,R187W,R82H,R82L,T62S,T85P,W73G,Y6C" "1,1,0,0,0,0,0,0,0,1,0" 5873 12506 hgmd1471;sw3487;spmut1688;evn1066;dbsnp20840;hgmd0613_1248 NP_004628;RAB7A_HUMAN;NP_004628.4 "A200P,A200T,K157N,K32E,L129F,N161T,N184T,R4W,T178M,V162M" "0,0,1,0,1,1,0,0,0,1" 7879 12804 hgmd1472;pmd532.2;pmd533.3;pmd534.5;pmd1070.1;pmd1071.2;pmd1072.3;pmd1073.1;sw2210;sws239;spmut1692;evn813;dbsnp17818;hgmd0613_990 NP_002863;RAC2_HUMAN;NP_002863.1 "A188T,D57N,T182M,T182R" "0,1,0,0" 5880 11744 hgmd1473;sw4201;spmut1696;evn177;dbsnp6970;hgmd0613_991 NP_002866;RAD51_HUMAN;NP_002866.2 "A194G,A55V,A76T,E169K,E16D,F46Y,I122V,I25V,N10S,N62S,P56S,R150Q,T139M" "0,0,0,0,0,0,0,0,0,0,0,1,0" 5888 9913 hgmd1474;sw700;spmut1677;dbsnp9597;hgmd0613_2235 NP_478123;RA51C_HUMAN;NP_478123.1 "A126T,A175T,D159N,G114V,G125V,G162E,G264S,G264V,G3R,I144T,I52L,L138F,L262V,L297P,Q178P,R12W,R249C,R258H,R366Q,T287A,V169A" "0,0,1,0,1,1,0,0,0,0,0,1,0,0,1,0,0,1,1,1,0" 5889 9064 hgmd1475;sw8579;spmut1697;evn879;dbsnp13768;dbsnp13769;hgmd0613_1080 NP_003570;RAD54_HUMAN;NP_001136020.1;NP_003570.2 "D21G,E256V,G325R,G496A,G705Q,H351Y,I583T,I74M,K151E,P125L,P125R,P433L,P63H,R172H,R172L,R202C,R262L,R380Q,R534C,R534H,R587W,R738H,R747C,S657C,V444E,Y464H" "0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0" 8438 3634 hgmd1476;sw1621;sws167;spmut1700;evn394;dbsnp20480;hgmd0613_992 NP_002871;RAF1_HUMAN;NP_002871.1 "A288G,D381N,D486G,D486N,F387L,L613V,M409V,P261A,P261L,P261S,P308L,P51S,R256S,R41Q,S257L,S259A,S259F,S259P,S25P,S285G,S612T,T260I,T260R,T491I,T491R,V206A,V263A,V321G,Y458C" "0,0,1,1,0,1,0,1,1,1,0,0,1,0,1,0,1,0,0,0,1,1,1,1,1,0,1,0,0" 5894 3464 hgmd1477;dbsnp1765;hgmd0613_370 NP_000439;NP_000439.1 "C176F,D51V,D576V,D887N,E193K,E876K,E880K,G460A,G99S,H84R,I385T,K144N,K820R,K843E,M1006V,N823T,P329S,P525S,Q242R,R247H,R449K,R851K,S169L,T670M,T925M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 5896 1924 hgmd1478;sw3717;evn938;dbsnp1812;dbsnp1813;dbsnp1814;hgmd0613_441 NP_000527;RAG2_HUMAN;NP_000527.2;NP_001230714.1;NP_001230715.1 "C181R,C41W,C478Y,D380Y,D400H,E293G,F386L,G451A,I12T,K212R,M285R,M502V,N364K,R123H,R229Q,R493K,R506C,R506H,T77N,V154A,V8I,Y146C" "0,1,1,0,0,0,0,1,0,0,1,1,0,0,1,0,0,0,1,0,0,0" 5897 6173 hgmd1479;sw6708;evn840;dbsnp8855;hgmd0613_2118 NP_109590;RAI1_HUMAN;NP_109590.3 "A1048S,A1606S,A1679V,A292S,A292V,A381V,E1264G,F1843S,G101S,G1833S,G577S,G90A,H1456L,H172Q,K1347E,L1219F,P1573A,P165T,P204S,P242L,P501L,Q1509R,Q280K,Q291H,Q291P,Q513R,Q939P,R1217Q,R1480G,R1559Q,R592P,R999L,R999Q,S1733L,T1669M,V1675L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 10743 481 hgmd147;sw670;evn1046;dbsnp30052;hgmd0613_1736 NP_056000;ARHG9_HUMAN;NP_056000.1 "D8E,E71G,G55A,H477Q,I10V,I402V,I437V,N151D,V147I,V374I,V464I" "0,0,1,0,0,0,0,0,0,0,0" 23229 1211 hgmd1480;sw3423;spmut1724;dbsnp18590;hgmd0613_1484 NP_006258;RBP2_HUMAN;NP_006258.3 "A1487S,A1500P,A573G,C581Y,D234E,D2584G,D2828E,D853E,E1766D,E580K,E695A,F2790C,F2790Y,F934L,G1587V,G2347R,G2692D,H1154L,H1162Y,H777R,I2483F,I2585T,I2803V,I656V,K1121N,L1076V,L272F,M243T,N1218S,N1854S,N2557S,N75K,P1055S,P1870L,P1892A,P1892R,P2247S,P2552S,P780L,Q1054H,Q1609L,Q2587E,Q968H,R1934H,R363C,R784K,S1117L,S1912R,S1981T,S725G,T1045M,T1576S,T2492A,T2492P,T2500I,T2821P,T585M,T653I,V1348I,V1348L,V2243A,V269A,V3116I,V548L,V80I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0" 5903 121 hgmd1481;sw4562;evn528;dbsnp2676;hgmd0613_1306 NP_005046;RAPSN_HUMAN;NP_005046.2 "A189V,A308V,A66T,E162K,F139S,F81L,L14P,L283P,N195D,N88K,Q8K,R164C,R205Q,R221H,R397Q,R58C,S274N,T30M,V138I,V45M" "1,0,0,1,1,0,1,1,0,1,0,1,0,0,0,0,0,0,0,1" 5913 8326 hgmd1482;pmd800.2;pmd2115.1;pmd2260.1;pmd2261.2;sw2469;evn694;dbsnp24013;hgmd0613_993 NP_002881;RASA1_HUMAN;NP_002881.1 "A78T,A93G,A99V,C540Y,E70G,G485S,H986Q,I401V,I909V,K37N,K400E,L116P,L124P,R398L,T453A,T846A,V102L,V107L,V77M,Y528C" "0,0,0,1,0,0,0,1,0,0,1,0,0,1,0,0,0,0,0,0" 5921 1911 hgmd1483;sw11801;evn561;dbsnp10419;hgmd0613_1649 NP_038463;RX_HUMAN;NP_038463.2 "D44E,G171R,P342Q,R192Q,S81A" "0,0,0,1,0" 30062 9755 hgmd1484;sw9011;evn455;dbsnp12414;hgmd0613_2183 NP_116142;RAX2_HUMAN;NP_116142.1 "G137R,L177M,P52L,R84C,R87Q" "1,0,0,0,1" 84839 9755 hgmd1485;sw1730;spmut1725;evn783;dbsnp5032;hgmd0613_268 NP_000312;RB_HUMAN;NP_000312.2 "A188S,A188T,A525G,A635P,C706Y,C712R,D210Y,D697E,D856N,E137D,E428D,E72Q,E746G,G310E,H549Y,H673P,I185T,I244T,K447Q,K530R,K616E,L110Q,L569F,L586F,L657P,L662P,M233V,M457R,M920T,N133H,N316S,N599S,N803K,Q436K,Q685P,R358G,R358Q,R500G,R656W,R661W,R857H,S114P,S567L,T12A,T377S,V368I,V654E" "0,0,1,1,1,1,0,0,0,1,0,1,0,1,1,1,1,0,1,1,1,0,0,0,1,1,0,1,0,0,0,0,1,0,1,1,1,1,1,1,0,0,1,0,1,0,1" 5925 2441 hgmd1486;sw10889;evn129;dbsnp26571;hgmd0613_1866 NP_060547;RBM28_HUMAN;NP_060547.2 "A672V,D240H,D758G,E253Q,G541A,G541D,H693Y,L351P,L570V,M384L,M463L,N94T,P102L,P275A,P613T,R518C,R640G,R677Q,S712L,V319I" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 55131 3524 hgmd1487;sw2010;sws210;evn711;dbsnp475;hgmd0613_994 NP_002891;RET3_HUMAN;NP_002891.1 "A243T,A403T,A424V,A876S,E381Q,G1053C,G1053S,G140S,G391R,H523Q,H645Y,H997Q,I599V,I926T,M899L,P100L,P139L,P723L,Q497R,R1236K,R346H,R544H,R577G,R665W,R806C,S1021Y,S1032F,S163P,S588R,T208A,V1037M,V693M,V884M,W398G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5949 1289 hgmd1488;sw1584;evn631;dbsnp1102;hgmd0613_1533 NP_006735;RET4_HUMAN;NP_006735.2 "E176D,G93D,I59N,Q182K,R173W,V125I" "0,1,1,0,0,0" 5950 12932 hgmd1489;sw9234;dbsnp5997;hgmd0613_2340 NP_689656;RDH12_HUMAN;NP_689656.2 "A126V,A206D,A206V,A269G,A47T,A79V,C285Y,D101N,D187N,G145E,G76R,H151D,H151N,I51N,L274P,L99I,N125K,P230A,P230L,R161Q,R193C,R234H,R239W,R65Q,S175P,T155I,T49M,T55M,V146D,V233D,Y226C" "1,1,1,0,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,0,1,1" 145226 10450 hgmd148;sw5236;dbsnp20857;dbsnp20858;hgmd0613_2444 NP_878899;AR13B_HUMAN;NP_001167621.1;NP_878899.1 "D133Y,G315R,G384E,H357R,P396A,Q297H,R200C,R79Q,S421G,T348S,V381I,Y406C" "0,0,0,0,0,0,1,1,0,0,0,0" 200894 7977 hgmd1490;pmd541.1;pmd4266.2;sw8595;evn1133;dbsnp3550;dbsnp3551;hgmd0613_995 NP_002896;RDH1_HUMAN;NP_001186700.1;NP_002896.2 "A294P,C267W,D128N,G107R,G238W,G35S,I161V,I252V,I33V,L105I,M98T,N28D,R157W,R21Q,R280H,R70G,R70L,R70Q,R75C,S58N,S73F,S74C,T243I,V100I,V132M,V164F,V177G,V264G,V89F,V89I,Y281H" "1,1,1,1,1,1,0,0,0,1,0,0,1,0,1,0,0,0,0,0,1,0,0,0,1,1,1,1,0,0,1" 5959 10429 hgmd1491;sw2964;evn766;dbsnp2554;hgmd0613_996 NP_002897;RADI_HUMAN;NP_002897.1 "A264P,A264S,A496V,D490N,D578N,E503D,G135A,H486N,I359M,I359V,I479V,K328E,K352R,L61V,M506V,N138S,P144Q,P471A,P471T,P480A,Y201C" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5962 5094 hgmd1492;sw10400;evn1118;dbsnp19796;hgmd0613_2041 NP_075063;REEP1_HUMAN;NP_075063.1 "A178S,A20E,D56N,P19L,R177W,S175P,S196G,S23F,W42R" "0,1,1,1,0,0,0,1,1" 65055 11776 hgmd1493;pmd1812.1;pmd4500.1;pmd4501.1;pmd4502.2;pmd4503.1;pmd4504.1;pmd4505.1;pmd4506.1;pmd4507.2;pmd4508.1;pmd4509.1;pmd4510.1;pmd4511.2;pmd4512.1;pmd4513.1;pmd4514.1;pmd4515.1;pmd4516.1;sw1467;evn324;dbsnp14478;hgmd0613_442 NP_000528;RENI_HUMAN;NP_000528.1 "D104N,E354G,G217R,I214L,I259V,L16R,P58L,P8A,Q160K,R230K,R33W,S235A,T178M,T68A" "1,0,0,0,0,1,0,0,0,1,0,0,0,0" 5972 8456 hgmd1494;pmd317.2;pmd482.1;pmd999.2;pmd1000.3;pmd1014.1;pmd1015.1;sw1799;sws187;spmut1737;dbsnp222;hgmd0613_1974 NP_066124;RET_HUMAN;NP_066124.1 "A386V,A432E,A639G,A640G,A641G,C142S,C157Y,C197Y,C609G,C609R,C609W,C609Y,C611G,C611R,C611S,C611W,C611Y,C618F,C618G,C618R,C618Y,C620F,C620G,C620R,C620W,C620Y,C630F,C630S,C630Y,C634F,C634G,C634R,C634W,C634Y,D300N,D353Y,D489N,E251K,E480K,E595Q,E673K,E762Q,E921K,F174S,F393L,F893L,F961L,G423R,G446R,G533C,G691S,G830R,G894S,G93S,K907E,K907T,L1052V,L1061P,L40P,L452I,M1064T,M918T,M980T,N359K,N394H,N394K,N783S,P1039L,P1039Q,P1049L,P1067S,P155L,P198T,P20L,P399L,P64L,P679L,P841L,P841R,P973L,Q626K,R114C,R114H,R175P,R180P,R231H,R287Q,R313Q,R330Q,R360Q,R360W,R475Q,R600Q,R67H,R694Q,R749T,R77C,R813Q,R844L,R873Q,R897Q,R912L,R912P,R972G,R982C,S316I,S32L,S339L,S690P,S765P,S767R,S891A,S922F,S922Y,T278A,T278N,T278P,T946M,V145G,V292M,V376A,V397M,V412M,V778I,V804M,Y1062C,Y791F,Y826S" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0" 5979 1677 hgmd1495;sw8738;evn545;dbsnp21143;hgmd0613_2215 NP_443091;RFT1_HUMAN;NP_443091.1 "A185T,E298K,G464S,G510E,H466R,H9Q,I35T,K152E,K203R,L128F,L467R,R373H,R67C,T361A,T444M,Y378C" "0,1,0,0,0,0,0,1,0,0,0,0,1,0,0,0" 91869 5967 hgmd1496;sw3329;evn91;dbsnp13647;dbsnp13648;hgmd0613_371 NP_000440;RFX5_HUMAN;NP_000440.1;NP_001020774.1 "A22T,A445D,D610E,G14R,G404E,G547S,K564E,L270V,L284P,P409R,P499S,Q549R,R149Q,R197Q,S460N,S563L,T387A,T407A" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 5993 4955 hgmd1497;pmd1016.1;sw413;evn405;dbsnp11222;hgmd0613_1101 NP_003712;RFXK_HUMAN;NP_003712.1 "A32V,A63T,D149N,E260K,E48D,L195P,Q12L,Q251E,R179C,V117I" "0,0,0,0,0,1,0,0,0,0" 8625 11696 hgmd1498;sw3293;dbsnp955;hgmd0613_564 NP_001012738;RGR_HUMAN;NP_001012738.1 "A234T,D165Y,G84S,H152N,L77F,R48W,S241F,S66R,V132L" "1,0,0,1,0,0,0,1,1" 5995 10986 hgmd1499;spmut1757;evn838;dbsnp15420;hgmd0613_997 NP_002914;RGS2_HUMAN;NP_002914.1 "A99G,G21D,G23D,I110V,K18T,P55L,Q2R,Q50K,S3G,T205I" "0,0,1,0,0,0,1,0,0,0" 5997 12708 hgmd149;sw10074;evn508;dbsnp21408;dbsnp21409;hgmd0613_2421 NP_816931;ARL6_HUMAN;NP_115522.1;NP_816931.1 "A89V,C148G,E17D,G169A,I165V,I94V,L170W,R122P,R122Q,T31M,T31R" "1,0,0,1,0,0,1,0,0,1,1" 84100 13239 hgmd14;sw2923;spmut1274;dbsnp7687 NP_004987;MRP1_HUMAN;NP_004987.2 "A861T,A953P,C1047S,C43S,G1103D,G671V,G844S,M117T,P285T,R230Q,R433S,R633Q,S1512L,S92F,T1337A,T1401M,V1146I,V177I,V177L,W242C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4363 791 hgmd1500;sw1113;evn1039;dbsnp9486;hgmd0613_1115 NP_003826;RGS9_HUMAN;NP_003826.2 "A475V,D415E,I93V,M488L,M488V,R501H,R661Q,S258L,S532T,S67N,T105A,T105R,T111N,T119I,T519S,V223I,V225A,V60I,W299R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 8787 4323 hgmd1501;sw4070;dbsnp25265;hgmd0613_270 NP_000315;RHAG_HUMAN;NP_000315.2 "A363D,F67L,G279E,G280R,G380V,I369V,L22V,L383I,N242D,S392Y,S79N,T28M,V270I" "0,0,1,1,1,0,0,0,0,0,1,0,1" 6005 8399 hgmd1502;dbsnp13056;hgmd0613_1946 NP_065231;NP_065231.3 "A58V,A85G,G336C,I306V,L378V,M167R,M218I,N68S,P103S,R263G,T152N,T342I,T66S,V174M,V314A,V375M,V398E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6006 8229 hgmd1503;dbsnp13049 NP_057208;NP_057208.2 "A176T,A85G,D350H,E233Q,G263R,I253M,S182T,S225F,V238M,V245L,V306I,Y311S" "0,0,0,0,0,0,0,0,0,0,0,0" 6007 8229 hgmd1504;pmd3393.1;pmd3394.1;pmd3395.1;sw1808;dbsnp21030;hgmd0613_443 NP_000530;OPSD_HUMAN;NP_000530.1 "A164E,A164V,A292E,C110F,C110Y,C140S,C167R,C222R,D190G,D190N,D190Y,E150K,E181K,F220C,F220L,F45L,G106R,G106W,G109R,G114D,G182S,G188E,G188R,G51A,G51R,G51V,G89D,G90D,H211P,H211R,I214N,K296E,L125R,L131P,L40R,L46R,M207R,M216K,M44T,N15S,P171L,P171Q,P171S,P180S,P23H,P23L,P267L,P267R,P347A,P347L,P347Q,P347R,P347S,P53R,Q28H,R135G,R135L,R135W,S127F,S186P,S297R,T17M,T340M,T342M,T4K,T58R,T70M,T94I,V104I,V209M,V345L,V345M,V87D,Y178C,Y178N" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1" 6010 9700 hgmd1505;sw6834;evn977;dbsnp24863;hgmd0613_1721 NP_055804;RIMS1_HUMAN;NP_055804.2 "A232T,A409V,A570T,D350E,D611E,F1516L,I1067V,I1223V,P1129S,P1157L,P462T,R1291Q,R217W,R820H,S1394A,S248L,T1005A,T1092R,T29I,V1042G,V301G" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 22999 646 hgmd1506;sw2087;evn906;dbsnp6912;hgmd0613_272 NP_000317;RLBP1_HUMAN;NP_000317.1 "A213G,A310S,D271E,E3D,F182C,I163T,L160I,L273F,M10K,M226K,Q309R,R151Q,R234W,R42H,S76L,S93N,V88M" "0,0,0,0,0,0,0,0,0,1,0,1,1,0,0,0,0" 6017 10465 hgmd1507;sw1083;spmut1808;dbsnp11683;hgmd0613_1501 NP_006388;RNH2A_HUMAN;NP_006388.2 "A258G,D205E,G37S,I253T,K110Q,L202S" "0,0,1,0,0,0" 10535 10875 hgmd1508;sw5687;spmut1809;evn27;dbsnp5272;hgmd0613_2073 NP_078846;RNH2B_HUMAN;NP_078846.2 "A177T,A287S,E68G,G83S,H86R,K162T,L60R,N152S,S21P,T163I,T263A,V175M,V185G,W73L,Y219H" "1,0,0,1,1,1,1,0,0,1,0,0,1,1,1" 79621 10601 hgmd1509;sw8253;evn434;dbsnp2928;hgmd0613_2156 NP_115569;RNH2C_HUMAN;NP_115569.2 "K143I,K90E,P98S,R69W" "1,0,0,1" 84153 13641 hgmd150;dbsnp17388;dbsnp17389;dbsnp17391;dbsnp17392;hgmd0613_396 NP_000478;NP_001078896.2;NP_001078895.2;NP_001078894.2;NP_000478.3 "A14T,A207T,E483K,S420R" "0,0,0,0" 410 6476 hgmd1510;sw4173;spmut1797;dbsnp13016;hgmd0613_1985 NP_066956;RN5A_HUMAN;NP_066956.1 "A276V,A289T,A544D,D541E,G59S,G732R,I537V,I97L,K294E,K627R,L258H,L285M,N65K,R400P,R462Q,R565H,R592H,S406F,S689F,T94M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6041 3686 hgmd1511;sw374;evn872;dbsnp24283;hgmd0613_1103 NP_003721;RNT2_HUMAN;NP_003721.2 "A233T,C15Y,C184R,E215K,R107H,R236Q,R236W,R2C,S221Y,S72G,W227S" "0,0,1,0,0,0,0,0,0,0,0" 8635 11778 hgmd1512;sw7022;dbsnp9263;hgmd0613_2161 NP_115698;RN135_HUMAN;NP_115698.3 "A173G,D337N,E166K,H202Y,H71Q,R115K,R286C,R286H,S108P,S176C,W415C" "0,0,0,0,0,0,0,1,0,0,0" 84282 7907 hgmd1513;sw5801;dbsnp372 NP_001026879;RNLS_HUMAN;NP_001026879.2 "D207E,E37D,I111T,I226T,I93V,N232S,P240S,Q134H,Q181K,S217G" "0,0,0,0,0,0,0,0,0,0" 55328 9847 hgmd1514;sw10543;evn935;dbsnp20897;hgmd0613_998 NP_002933;ROBO2_HUMAN;NP_002933.1 "A1151E,A1217P,A1217V,A1236T,C1105F,C488W,E218K,E944D,F876S,G460S,I598T,I772L,I945T,L10M,L11I,L1279V,N515I,P459L,R1286L,R383H,S1205A,S1337C,S494R,S519N,S906T,S984T,T1346A,T206A,T549A,T980I,V1092A,V111A,V691I" "0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6092 989 hgmd1515;sw9188;dbsnp2102;hgmd0613_2026 NP_071765;ROBO3_HUMAN;NP_071765.2 "A1062T,D284N,E319K,G361E,I66L,L5P,P397T,P868L,Q1369R,R1198H,R416H,R703P,S705P,V423M" "0,0,1,1,1,1,0,0,0,0,0,1,1,0" 64221 1004 hgmd1516;sw943;sws106;spmut1814;evn968;dbsnp18451 NP_004841;ROCK2_HUMAN;NP_004841.2 "A17V,C649S,D601V,F270Y,G23V,I41V,I434V,I660M,K1083M,K1307R,K29N,L262M,L662I,L763I,M460I,M835L,N458S,S588T,T431S,V1161A,Y285F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9475 1000 hgmd1517;dbsnp3009;hgmd0613_273 NP_000318;NP_000318.1 "A235T,A280V,A86T,G113E,G314R,G75S,M271T,M318K,R16H,R171H,R198Q,R223Q,R229H" "0,0,0,1,0,0,0,0,0,0,0,0,1" 6094 9621 hgmd1518;sw4064;sws489;evn210;dbsnp28923;hgmd0613_1231 NP_004551;ROR2_HUMAN;NP_004551.2 "A525D,A525G,A586T,A894T,C182Y,D560N,D579V,D644N,D672N,D895G,D935E,G490A,G494S,G695R,H349D,I270V,K97N,M811L,M883V,N620K,P106L,P548S,P799S,Q898H,R184C,R189W,R244Q,R244W,R366W,R528Q,R530Q,R738C,S557L,S762L,T190A,T245A,T508M,T908P,V536I,V593M,V612L,V629M,V819I,V821I" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4920 2370 hgmd1519;sw3742;dbsnp27356;hgmd0613_1485 NP_006260;RP1_HUMAN;NP_006260.1 "A1326P,A669T,C2033Y,C727W,D1072G,D1178Y,D202E,D2066N,D579G,D984G,E96K,F1344L,F1935L,G1522D,G1875A,G2056D,G706R,H140R,H1869Y,I408L,K1044N,K1370E,K663N,K817E,K900N,L128I,L1356S,L1417P,L1425P,L1504S,L172R,L1808P,L1891F,L1901F,L749F,N1766H,N523S,N805D,N985Y,P1276S,P1793S,R1595Q,R1652C,R1652L,R168G,R376L,R396Q,R872H,S1548R,S1691P,T2113N,T752M,V1837I,V945L,Y251C" "0,1,0,0,1,0,1,1,0,1,0,0,1,0,0,0,0,0,0,0,0,1,1,0,1,0,1,1,0,0,1,1,0,0,0,0,0,0,0,0,1,0,0,1,1,0,0,0,0,0,1,0,0,0,0" 6101 355 hgmd151;pmd3995.2;sw2241;evn526;dbsnp22925;hgmd0613_29 NP_000037;ARSB_HUMAN;NP_000037.2 "A136T,C117R,C192R,C405Y,C521Y,F399L,G137V,G144R,G302R,H393P,I350V,L236P,L321P,L498P,M142I,N458S,P116H,P531R,Q239R,R106H,R152W,R160Q,R315Q,R484G,R95Q,S65F,T92M,V342M,V358L,V358M,V376M,W146L,W146R,W146S,W312C,Y210C" "0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1,1" 411 5148 hgmd1520;sw1067;spmut2388;evn473;dbsnp29714;hgmd0613_1553 NP_008846;XRP2_HUMAN;NP_008846.2 "C108G,C108Y,C3S,C67Y,C86Y,D338Y,E138G,I201V,K144R,L188P,L253R,L292V,M41V,P95L,R118C,R118H,R118L,R218S,S334Y,T87I,V310G,V81I" "1,1,1,1,1,0,1,0,0,1,1,0,0,1,1,1,1,0,0,1,0,0" 6102 9645 hgmd1521;sw8110;evn991;dbsnp26858;hgmd0613_2489 NP_976033;RP9_HUMAN;NP_976033.1 "D170G,H137L,K129T,K210R,V10A,V155I" "1,1,0,0,0,0" 6100 12507 hgmd1522;sw4975;spmut1821;evn925;dbsnp14926;hgmd0613_275 NP_000320;RPE65_HUMAN;NP_000320.1 "A132T,A393E,A393G,C330Y,D167Y,D477G,E102K,E417Q,E95Q,F70V,G333R,G40S,G436V,G528V,H182N,H182Y,H313R,H68Y,I100L,I225M,K294T,L22P,L300F,L341S,N321K,P363T,P470L,Q424R,R44Q,R515W,R85H,R91P,R91Q,R91W,S511R,T457I,V287F,V384I,V452G,V473D,V99I,Y144D,Y239D,Y368H,Y431C,Y435C,Y79H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,0,1,1,1,1,0,1,1,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1" 6121 6086 hgmd1523;dbsnp29710;hgmd0613_274 NP_000319;NP_000319.1 "D789N,E414Q,E432D,I775V,L347F,P768T,Q184H,Q456R,V563M" "0,0,0,0,0,0,0,0,0" 6103 1547 hgmd1524;sw9083;dbsnp5478;hgmd0613_1937 NP_065099;RPGR1_HUMAN;NP_065099.3 "A318V,A635G,A764V,A837G,A841T,A869V,A960P,C603S,E1033Q,E1130Q,G1240E,G746E,G883D,H1057L,H631P,I838V,K192E,M32K,M32L,P36L,P585S,P96Q,R148K,R363T,R598Q,R812H,R814L,R827L,R852Q,S135R,S432F,S601L,S601W,T638I,T806I" "1,1,0,1,0,0,0,0,0,1,0,1,0,0,1,1,0,0,0,0,0,0,0,1,1,0,0,1,1,0,1,0,1,0,1" 57096 1191 hgmd1525;sw5875;evn920;dbsnp7511;hgmd0613_1739 NP_056087;FTM_HUMAN;NP_056087.2 "A1183G,A229T,A695P,D1249Y,D1264N,D1264Y,E604K,G1025S,G25V,H889N,H983F,I1220V,I178V,I389V,I936S,K1215Q,K386E,L1106Q,L447S,L546F,L554I,L57F,L958V,M1230I,M586T,N210D,N800T,N881K,P189L,R1171Q,R1236C,R161H,R161L,R493H,R535C,R744Q,R747Q,R84Q,R937L,S199G,S659P,T1143S,T615P,T677I,V1188M,V214I,V647I,V86I,Y362C,Y579C" "0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,1,1,0,1,1,0,0,1,0,0,0" 23322 1136 hgmd1526;sw3372;evn834;hgmd0613_2297 NP_653164;RPIA_HUMAN;NP_653164.2 "A135V,N66S" "1,0" 22934 10627 hgmd1527;sw2682;evn534;dbsnp30099;hgmd0613_1443 NP_006004;RL10_HUMAN;NP_006004.2 "D183N,H213Q,L206M,N202S" "0,1,1,0" 6134 12624 hgmd1528;sw3879;evn198;dbsnp13477;hgmd0613_534 NP_000966;RL11_HUMAN;NP_000966.2 "E111G,E160K,E160Q,L20H,S158G" "0,0,0,1,0" 6135 13389 hgmd1529;sw3279;evn492;dbsnp14421;hgmd0613_533 NP_000960;RL5_HUMAN;NP_000960.2 "A245S,A285V,D128G,E260D,G137D,G140S,G149C,K259R,L211I,S230N,Y210C" "0,1,0,0,0,1,0,0,0,0,0" 6125 10926 hgmd152;sw3530;dbsnp30226;hgmd0613_30 NP_000038;ARSE_HUMAN;NP_000038.2 "A35T,C492Y,D470H,G117R,G137V,G245R,G424S,I53V,I565S,I80N,P578S,R111P,R12S,R183H,R469W,T473K,T481M" "0,1,0,1,1,1,0,0,0,1,1,1,1,0,0,0,1" 415 5225 hgmd1530;spmut1831;evn664;hgmd0613_552 NP_001005;RS10_HUMAN;NP_001005.1 "L117F,L15P,P134S,S146A" "0,0,0,0" 6204 11088 hgmd1531;sw1857;hgmd0613_562 NP_001012;RS17_HUMAN E36K 0 6218 14163 hgmd1532;sw3083;evn764;dbsnp12472;hgmd0613_565 NP_001013;RS19_HUMAN;NP_001013.1 "A135T,A17P,A57P,A61E,F21S,G120R,G127E,L131P,L131R,L18P,L18R,L64P,M88R,P47L,R101H,R56Q,R62Q,R62W,S59F,T55M,T76P,V15F,W52C,W52R" "1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1" 6223 14007 hgmd1533;dbsnp1217 NP_148982;NP_148982.1 N124S 0 6229 11127 hgmd1534;sw3876;evn1042;dbsnp4795;hgmd0613_577 NP_001020;RS26_HUMAN;NP_001020.2 "A106G,A61G,D33N,M115T,M1V" "0,0,1,1,1" 6231 14464 hgmd1535;pmd1031.1;pmd1032.2;sw3542;sws422;evn768;dbsnp30220;hgmd0613_1236 NP_004577;KS6A3_HUMAN;NP_004577.1 "A225V,A532T,D154Y,E204K,E628D,F268S,G431D,G75V,I189K,I207L,I38S,I47V,P40L,R114W,R383W,R723C,R723H,R729Q,S227A,S46N,T115S,V45G,V82F" "1,0,1,0,0,1,1,1,1,0,0,0,0,1,1,0,1,1,1,0,1,0,1" 6197 3662 hgmd1536;sw6589;evn479;dbsnp28064;hgmd0613_1770 NP_056528;RIR2B_HUMAN;NP_056528.2 "C236F,E194G,E194K,I224S,L317V,M282I,R110H,R121H,S25N,T161I,V115L,W64R" "1,1,1,1,1,1,1,1,0,0,1,1" 50484 7615 hgmd1537;sw622;evn965;dbsnp29699;hgmd0613_276 NP_000321;XLRS1_HUMAN;NP_000321.1 "A48T,A98E,C110Y,C142W,C219G,C219R,C223R,C59S,D143V,D145H,D158N,E146D,E146K,E215K,E215Q,E26K,E30K,E72D,E72K,F108C,G109E,G109R,G109W,G135V,G140E,G140R,G178D,G70A,G70S,G74V,H207Q,I136T,I199T,K222N,L103R,L113F,L127P,L12H,L13P,L216P,N99D,P192L,P192R,P192S,P193L,P193S,P203L,R102Q,R102W,R141C,R141G,R141H,R156G,R182C,R197C,R197H,R200C,R200H,R209C,R209H,R213Q,R213W,S73P,T138A,T183I,W163C,W96R,Y155C,Y65C,Y89C" "0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1" 6247 12448 hgmd1538;sw5696;evn379;dbsnp24428;hgmd0613_560 NP_001010892;RSH4A_HUMAN;NP_001010892.1 "A700V,D103Y,E129K,E701Q,I367V,L360F,L589P,N627H,P195R,P664S,P87S,Q9K,R244H,R520Q,R556H,S31F,S31P,T149S,T334K,V497I" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 345895 3901 hgmd1539;sw5103;dbsnp16525;hgmd0613_582 NP_001025042;RSPO4_HUMAN;NP_001025042.2 "C107R,C118Y,C95F,H152P,H175P,Q65R,R106Q" "1,1,1,0,0,1,0" 343637 12251 hgmd153;evn525;dbsnp3275 NP_066549;NP_066549.2 "C8R,D135E,D265N,E48D,F55S,G233C,K157R,L30P,R152C,T189M" "0,0,0,0,0,0,0,0,0,0" 420 10544 hgmd1540;evn225;dbsnp17182;hgmd0613_819 NP_001745;NP_001745.2 "I6M,S28P,S469A" "0,0,0" 861 6275 hgmd1541;pmd286.2;pmd3921.2;pmd4307.2;pmd4308.3;sw4591;spmut1840;evn240;dbsnp25172;hgmd0613_576 NP_001019801;RUNX2_HUMAN;NP_001019801.3 "A211P,A362V,C123R,D287N,F121C,F187S,F197S,G452A,G511C,G511R,G511S,I201K,K218E,K218N,K218Q,K233R,L113R,L136P,L199F,L470V,M175K,M175R,M175V,N16S,N389S,N99I,P29S,Q209H,Q209R,Q53L,R131C,R131G,R131S,R169P,R169Q,R190Q,R190W,R193C,R193Q,R225L,R225Q,R225W,R228G,R251C,S118N,S118R,S191N,T200A,T200I,T205R,T220I,T355S,T420I,T420N,T9A,V156D,V156G" "1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,0,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,0,1,1" 860 6275 hgmd1542;sw8458;spmut1845;dbsnp5182 NP_570718;RXFP2_HUMAN;NP_570718.1 "A620T,A62T,H395R,I476V,I604V,N260S,R532G,R536W,S529G,V156I,Y609C" "0,0,0,0,0,0,0,0,0,0,0" 122042 3325 hgmd1543;pmd1076.1;pmd1077.1;pmd1078.1;sw2500;dbsnp11508;hgmd0613_444 NP_000531;RYR1_HUMAN;NP_000531.2 "A1352G,A140T,A2350T,A2367T,A2421P,A2428T,A2437V,A2450V,A291T,A3118V,A3774V,A4185T,A4616D,A4753T,A4846V,A4906V,A4940T,A882V,C3402G,C35R,D1413N,D166N,D2129E,D227V,D2431N,D2730G,D2943N,D4505H,D4939E,D544Y,D708N,E160G,E1878D,E2344D,E2348G,E2404K,E2779K,E2880K,E3212K,E3290K,E3583Q,E3853K,E4516G,F4684S,G1620S,G165R,G1704S,G1832A,G2060C,G215E,G2434R,G3806R,G4638D,G4891R,G4897V,G4899E,G4899R,G4942V,G774R,G893S,H2035L,H3647Q,H3981Y,H4651P,I1571V,I2321V,I3916M,I403M,I4898T,I4938M,I4938T,K1393R,K2891Q,K4068R,K4724Q,K4876R,L13R,L13V,L2550V,L3129F,L3206V,L32F,L4650P,L4793P,L4814F,L4824P,L4838V,M2101K,M226K,M2423K,M3081T,M402T,M485V,N2342S,N2634K,N3326K,P1293T,P1787L,P3267L,P3527S,P4668S,P4973L,P894T,Q1368P,Q3756E,R1043C,R109W,R1109K,R163C,R163L,R1667C,R1679H,R177C,R2163C,R2163H,R2163P,R2336H,R2355C,R2435H,R2435L,R2452W,R2454C,R2454H,R2458C,R2458H,R2676W,R3119C,R328W,R3539H,R367L,R3772Q,R3772W,R401C,R401H,R401S,R4136S,R44C,R4558Q,R471C,R4737Q,R4737W,R4825C,R4861C,R4861H,R4893Q,R4893W,R4914G,R4914T,R530H,R533C,R533H,R552W,R614C,R614L,R834W,R986C,S1342G,S1489N,S2776F,S3217P,T1406M,T148I,T2206M,T2206R,T2544S,T2659M,T4637A,T4637I,T4826I,V2117L,V2168M,V2214I,V2280I,V2346M,V2509I,V3088M,V4234L,V4842M,V4849I,V706I,Y178C,Y4796C,Y4864C,Y522S" "1,0,1,1,1,1,1,0,0,0,0,0,0,0,1,1,1,0,1,1,0,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,0,1,0,1,0,1,0,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,0,0,0,1,1,1,1,1,0,1,1,0,1,1,1,0,1,1,0,0,1,0,1,0,0,0,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,0,0,1,1,0,0,1,1,1,1,1,1,1,1,0,0,1,1,1,0,1,1,1,1" 6261 31 hgmd1544;sw8584;spmut1848;evn72;dbsnp13518;hgmd0613_584 NP_001026;RYR2_HUMAN;NP_001026.2 "A1136V,A1319P,A1700T,A2387P,A2403T,A4234G,A4357T,A4453V,A4510T,A4556T,A4607P,A4860G,C3032G,D1199G,D1871E,D3705N,D3853N,D959E,E2311D,E3650D,E4146K,E4213G,E4428G,E4950K,E500D,E887K,F4306S,F4499C,G1886S,G3657C,G3946S,G4671R,G786D,I2095T,I3508T,I403V,I419F,I4848V,I4867M,I798M,I798T,K1800R,K1874R,K3659Q,K4432R,L3778F,L433P,L4694F,M3231I,M4292L,M4504I,N1332S,N1551S,N2386I,N4097S,N4104K,N4111H,N4895D,N658S,P164S,P1857L,P2328S,P4353A,P4902L,Q2958R,Q4201R,R1144Q,R176Q,R2474S,R3152C,R3571K,R414L,R420W,R4242K,R4497C,R4959Q,R694Q,S1400G,S1789A,S1803G,S1869H,S2246L,S2393A,S404N,S922C,T1107A,T153A,T1863A,T2504M,T3199S,T3332M,T3541A,T4158P,V2048I,V2306I,V2435F,V2451M,V4276M,V4653F,V4771I,V4880A,V507I,Y2392C,Y2680D,Y4287H" "1,0,0,1,1,0,0,0,1,1,1,1,0,0,0,0,0,0,1,0,1,0,0,1,0,0,0,1,0,0,1,1,0,0,0,0,1,1,1,0,0,0,0,0,0,1,1,0,0,0,1,0,1,1,1,1,0,1,0,1,0,1,0,1,0,1,0,1,1,0,0,1,1,0,1,1,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,1,0,1,0,0,0,1,1,1,0,1,0,0" 6262 35 hgmd1545;dbsnp1658;dbsnp1659;dbsnp1660 NP_000322;NP_001171477.1;NP_954630.1;NP_000322.2 "E102K,F86L,F87I,F87L,F87S,H89R,K108R,K121R,M42I,R105S,V75A" "0,0,0,0,0,0,0,0,0,0,0" 6288 12790 hgmd1546;sw11055;sws1238;evn443;dbsnp4994;hgmd0613_1684 NP_055178;SACS_HUMAN;NP_055178.3 "A1373P,A1373V,A1790T,A2171T,A2208T,A2318T,A2510T,A2782T,A2782V,A323G,A3376T,A3661V,A4074P,A629T,A694T,C2395F,C567H,C991R,D168Y,D2305H,D568E,E4343K,E833K,F1054S,F2780C,F3188L,F3653S,F4050L,G325R,G3424A,H1587R,H1915R,H2250Y,H716Y,I1040M,I356L,I3632M,I4035V,I747V,I843V,I868V,K2017N,K2298Q,K2709N,K2958R,K3425R,K4508T,L1177V,L1221I,L2261I,L308F,L3481P,L3645P,L426F,L460F,L482V,L556P,L737F,L802P,M1311K,M1359T,M2335I,M2335V,M4575I,M518T,N1025I,N1489S,N232K,N366S,N367D,N4217D,N4549D,N4573H,N559H,P2462S,P2798Q,P3652T,P3678A,Q1143K,R1271K,R1575P,R2112S,R2214P,R2703C,R3184C,R3636Q,R3788H,R4283K,R4331Q,R745H,R976C,R976S,S1236T,S2828G,S405G,T1662M,T201K,T2388S,T2456A,T30N,T4270A,T4382S,T458I,V1103F,V1924A,V2091I,V3369A,V3431I,V3431L,V375I,V3854A,V995F,W1946R,W3248R,Y765C" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,1,0,0,1,0,1,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,1,1,0,0,0,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,1,0,0,0,1,0,0,1,0,1,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,1,0" 26278 49 hgmd1547;sw1997;dbsnp18185 NP_000532;ARRS_HUMAN;NP_000532.2 "I36T,I76V,V403A,V403I" "0,0,0,0" 6295 8487 hgmd1548;sw11427;evn973;dbsnp16477;hgmd0613_1943 NP_065169;SALL4_HUMAN;NP_065169.1 "A177T,A681T,A728P,A739S,C132G,C683W,D804N,F429L,G1035S,G117R,G340S,G680S,G993R,G993W,H888R,I798L,L507R,N453S,P544S,P740A,P833Q,R586G,S1021L,S106N,T125A,T314A,T828M,V181M,Y528H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57167 1879 hgmd1549;sw5514;evn152;dbsnp26462;dbsnp26463;hgmd0613_1837 NP_060124;SAMD9_HUMAN;NP_001180236.1;NP_060124.2 "A1556T,A454T,D881G,E1521K,E1587V,E457A,E842K,G1575E,I143T,I1578T,I332T,I557S,K113R,K1495E,K1503E,K350R,K894E,L1072P,N1003S,N449S,P1215L,P1506L,P155L,Q1399K,R1334I,R75W,R846K,R902Q,S86F,T353M,T479M,V549L,V792I,V853L,Y896H" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54809 743 hgmd154;sw9327;evn946;dbsnp30232;hgmd0613_2282 NP_620689;ARX_HUMAN;NP_620689.1 "A283V,A302T,A521T,D255N,G286S,L33P,L343Q,P267A,P353L,P353R,R332H,R332P,T333N,V207A" "0,0,1,0,1,1,1,0,1,1,1,1,1,0" 170302 5648 hgmd1550;sw11863;dbsnp16364;hgmd0613_1754 NP_056289;SAMH1_HUMAN;NP_056289.2 "G209S,H123P,I201N,L369S,M254V,M385V,P26L,R143C,R143H,R145Q,R531S,R611L,R611Q,S519I,V112I,Y563C" "1,1,1,1,1,1,0,1,1,1,0,0,0,0,0,0" 25939 4829 hgmd1551;sw12044;evn909;dbsnp23632;dbsnp23633;hgmd0613_588 NP_001028675;SAR1B_HUMAN;NP_001028675.1;NP_057187.1 "A36V,D137N,D75G,G11D,G37R,I163V,S179R" "0,1,1,1,1,0,1" 51128 12999 hgmd1552;sw4796;evn257;dbsnp3497;hgmd0613_1704 NP_055521;SART3_HUMAN;NP_055521.1 "A54G,A664P,A936V,D23E,E13Q,E26D,E594K,E621D,E6A,I738V,I870V,M897T,P900L,Q136E,R252Q,R36S,S924G,T222S,T720A,V473L,V591M,V673I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 9733 2260 hgmd1553;sw11830;spmut1876;evn924;dbsnp26723;hgmd0613_1786 NP_057122;SBDS_HUMAN;NP_057122.2 "D246N,E44G,G203N,G203S,I177L,I87S,K185R,K67E,N8K,R126T,R169C,T146P,V43L" "0,1,0,0,0,1,0,1,1,1,1,0,0" 51119 11907 hgmd1554;sw1096;dbsnp2993;dbsnp2994;hgmd0613_1554 NP_008849;SC5D_HUMAN;NP_008849.2;NP_001020127.1 "A8T,D237E,G211D,I182V,L200S,R277C,R277H,R29Q,R6C,R74C,Y46S" "0,0,1,0,0,0,0,1,0,0,1" 6309 10876 hgmd1555;sw4608;spmut1884;evn530;dbsnp21911;hgmd0613_1379 NP_005497;SCRB2_HUMAN;NP_005497.1 "D307N,E471G,E93K,G462E,H150R,H363N,I144L,M159V,N304S,P128A,Q360K,R121Q,S13F,T421M,V149M,V396I,Y284S" "0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 950 7034 hgmd1556;sw4221;dbsnp11475;hgmd0613_587 NP_001028;SCN1B_HUMAN;NP_001028.1 "C121W,C211Y,D25N,E87Q,G213D,K184R,K208I,R125L,T189M,V138I,V214I" "1,0,1,1,0,0,0,1,0,0,0" 6324 11526 hgmd1557;sw9435;evn205;dbsnp18429;dbsnp18431;hgmd0613_1978 NP_066287;SCN2A_HUMAN;NP_001035232.1;NP_066287.2 "A1816S,A263V,A34T,A575V,A584T,D1734E,E1211K,F328V,F385Y,G1522A,I1473M,I313M,I587L,K908R,L1003I,L1330F,L1563V,M252V,N520S,R1319Q,R188W,R1902T,R19K,R223Q,R524Q,R534K,V1159A,V261M,V797I,V892I,Y84F" "0,1,0,1,0,0,1,1,0,0,1,0,0,0,1,1,1,1,0,1,1,0,0,1,0,0,0,1,0,1,0" 6326 418 hgmd1558;evn197;dbsnp18650;hgmd0613_1555 NP_008853;NP_008853.3 "A1880S,D1803N,E513G,G1862C,G1992V,G303R,I1230T,I1375V,K1433T,L512H,M1022I,M693V,P671L,Q1942R,R1032T,R15H,R520K,S1925N,S540F,T1157I,T1958S,V1084I,V1107A,V1147A,V1437M,V681I,V706M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6328 418 hgmd1559;sw10974;sws1226;evn749;dbsnp2740;dbsnp2741;hgmd0613_1884 NP_060870;SCN3B_HUMAN;NP_001035241.1;NP_060870.1 "A11V,S97N,V110I,V19A,V54G,Y17L" "0,0,1,0,1,0" 55800 12626 hgmd155;sw4519;dbsnp27427;hgmd0613_2419 NP_808592;ASAH1_HUMAN;NP_808592.2 "A70V,D124E,E138V,E382K,G103A,G213A,G235R,H23D,I93V,L182V,M210T,N320D,P362R,P71A,Q22H,R254G,R323C,T222K,T335M,T42M,V187M,V246A,V369I,V72M,V88M,V97E,Y207F,Y36C" "0,0,1,0,0,0,1,1,0,1,0,1,1,0,1,1,0,1,0,1,0,0,0,0,0,1,0,1" 427 8372 hgmd1560;sw2988;dbsnp8897;hgmd0613_277 NP_000325;SCN4A_HUMAN;NP_000325.4 "A1152D,A1156T,A1481D,A715T,A861D,C587Y,E29G,E452K,E908K,F1473S,F1705I,F671S,G1306A,G1306E,G1306V,G1456E,I1160V,I1310N,I141V,I1513M,I693T,L1433R,L1436P,M135T,M135V,M1476I,M1592V,M1619T,N1297K,N1376D,N559D,P1158S,P73L,Q270K,R1129Q,R1132Q,R1135H,R1448C,R1448H,R1448L,R222W,R225W,R669H,R672C,R672G,R672H,R672S,R675G,R675Q,R675W,S246L,S524G,S804F,S804N,T1313M,T685M,T704M,V119I,V1293I,V1442E,V1564I,V1589M,V445M,V781I" "1,1,1,1,0,0,0,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,0,1,1,0,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,0,1,0,1,1,0,1,1,1" 6329 436 hgmd1561;sw7124;evn760;dbsnp2825;hgmd0613_2404 NP_777594;SCN4B_HUMAN;NP_777594.1 "G207R,G3R,H65L,L179F,L181P,S206L,V169I,V203M" "0,0,0,1,0,1,0,0" 6330 12356 hgmd1562;sw4684;spmut1883;evn180;dbsnp20239;hgmd0613_2458 NP_932173;SCN5A_HUMAN;NP_932173.1 "A1180V,A1330P,A1330T,A1569P,A1649V,A1949S,A226V,A572D,A691T,A735E,A735V,A997S,C1850S,C896S,D1041N,D1114N,D1114Y,D1275N,D1595N,D1714G,D1790G,D1819N,D1839G,D356N,E1053K,E1225K,E1231K,E1295K,E1784K,E428K,E462K,E655K,F1344S,F1473C,F1486L,F1705S,F532C,F892I,G1084S,G1262S,G1406R,G1408R,G1481E,G1502S,G1740R,G1743E,G1743R,G1935S,G298S,G319S,G351V,G514C,G552R,G752R,G9V,H445D,H558R,H681P,H681R,I1660V,I1768V,I230V,K1236N,K126E,K1500N,K1527R,L1389M,L1501V,L212P,L325R,L404Q,L461F,L567Q,L619F,M138I,M1652R,M1766L,M1875T,M1906T,M369K,M438T,N1325S,N1987K,N406S,N470K,N592S,P1090L,P1298L,P1332L,P1438L,P1959S,P336L,P578S,P637L,P648L,Q1909R,Q245K,Q73R,R1023H,R1027Q,R1232W,R1432G,R1512W,R1623L,R1623Q,R1626P,R1644C,R1644H,R1826C,R1826H,R18W,R1919H,R1958Q,R225Q,R225W,R27H,R282H,R34C,R367C,R367H,R43Q,R481W,R513H,R533H,R680H,R814Q,R878C,R965C,R971C,S1103Y,S1333Y,S1382I,S1458Y,S1609W,S1710L,S1787N,S1904L,S216L,S524Y,S910L,S941N,T1016S,T1069M,T1131I,T1304M,T1620K,T1620M,T1645M,T1779M,T187I,T353I,T512I,T89N,V1019A,V125L,V1405L,V1667I,V1763M,V1777M,V1951M,V294M,V411M,V95I,Y1494N,Y1795C,Y1795H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,0,1,0,1,1,1,1,0,1,1,1,1,1,1,0,1,0,1,1,1,1,0,0,1,1,1,0,1,0,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,0,0,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1" 6331 418 hgmd1563;dbsnp18698;hgmd0613_1000 NP_002968;NP_002968.1 "D1908G,E422D,F1449V,F216S,I228M,I848T,K1375Q,L352S,L711S,L858F,M932L,N1245S,R1110P,R1110Q,R185H,R1893H,S241T,S490N,V1428I,V991L,W1538R" "0,0,1,1,1,1,0,0,0,1,1,0,0,0,1,0,1,0,0,1,1" 6335 418 hgmd1564;sw3062;dbsnp3688;hgmd0613_589 NP_001029;SCNNA_HUMAN;NP_001029.1 "A334T,C618F,F61L,G327C,G355R,G454V,G520A,L406I,P402H,R476Q,R591Q,S205N,S269P,S495L,S507L,S562L,T663A,V114I,V573I" "0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0" 6337 3804 hgmd1565;sw3491;sws417;dbsnp7472;hgmd0613_278 NP_000327;SCNNB_HUMAN;NP_000327.2 "A336P,A569V,A61T,A94T,E539K,E632G,G294S,G37S,G442V,G589S,L11V,L628Q,N288S,P267L,P369T,P616L,P616S,P617S,P618R,R156W,R388C,R397L,R563Q,R565Q,R597H,R624C,S286L,S82C,T594M,V348M,V434M,V630I,Y620H" "0,0,0,0,1,0,1,1,0,0,0,0,1,1,1,1,1,1,1,0,0,0,1,0,0,0,0,1,0,1,0,0,1" 6338 4690 hgmd1566;sw3492;sws418;dbsnp7278;hgmd0613_591 NP_001030;SCNNG_HUMAN;NP_001030.2 "A502P,A614S,D213N,D647Y,E197K,G489S,G49C,I186F,N530S,R157Q,R178W,R631C,S134F" "0,0,0,0,1,0,0,0,1,0,0,0,0" 6340 4596 hgmd1567;sw1100;dbsnp8860;hgmd0613_1238 NP_004580;SCO1_HUMAN;NP_004580.1 "A107G,A107V,A2E,H114Q,I263V,I290V,L6V,P174L,P58S" "0,0,0,0,0,0,0,1,0" 6341 10826 hgmd1568;sw758;dbsnp17332;dbsnp17333;dbsnp17334;dbsnp17335;hgmd0613_1314 NP_005129;SCO2_HUMAN;NP_001162581.1;NP_001162580.1;NP_001162582.1;NP_005129.2 "A259V,E140K,Q101H,R114H,R171W,R179H,R20P,R79T,S225F,T238M,V181I" "1,1,0,1,1,0,0,0,1,0,0" 9997 11558 hgmd1569;sw2854;dbsnp22893;hgmd0613_1161 NP_004159;DHSA_HUMAN;NP_004159.2 "A449V,A466T,A524V,A591T,D38V,D49G,E240Q,E472K,F33V,G555E,I235T,K46E,Q533E,R188Q,R329Q,R465Q,R512Q,R554W,R589W,R600Q,R662H,S456L,T508I,T551M,V333I,V446A,V657I,Y215C,Y629F" "0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0" 6389 4432 hgmd156;sw3467;dbsnp3611;hgmd0613_1182 NP_004307;ASCL1_HUMAN;NP_004307.2 "E158G,F236L" "0,0" 429 12192 hgmd1571;sw10924;dbsnp3012;hgmd0613_1852 NP_060311;SDHF2_HUMAN;NP_060311.1 "G78R,R107C,R33C,S11L" "1,0,0,0" 54949 13606 hgmd1572;sw2503;evn66;dbsnp14388;hgmd0613_1001 NP_002991;DHSB_HUMAN;NP_002991.2 "A29T,A3G,A43P,C101Y,C192R,C196Y,C22S,G53E,G53R,H132P,H57R,I127N,K40E,L65H,L65P,L87S,P131R,P197R,R230C,R242H,R46G,R46Q,S100F,S163P,T35A,T60A" "0,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0" 6390 11268 hgmd1573;dbsnp15854;hgmd0613_1002 NP_002992;NP_002992.1 L91V 0 6391 13555 hgmd1574;sw400;sws23;dbsnp2364;hgmd0613_1003 NP_002993;DHSD_HUMAN;NP_002993.1 "D92Y,G12S,G148V,H102L,H145N,H50R,L139P,P81L,Y114C,Y93C" "1,0,1,1,1,0,1,1,1,0" 6392 13734 hgmd1575;sw4869;evn1078;dbsnp5830;hgmd0613_1497 NP_006355;SC23A_HUMAN;NP_006355.2 "D317E,F382L,G217S,I167T,L104M,L211V,L636F,M127L,R476H,R67C,S588P,S97T,T440S,T454A,V592I" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 10484 3457 hgmd1576;sw4870;evn284;dbsnp16268;dbsnp16269;dbsnp16270;dbsnp16271;hgmd0613_1496 NP_006354;SC23B_HUMAN;NP_001166216.1;NP_116780.1;NP_116781.1;NP_006354.2 "A219V,A227V,A524V,D239G,D348A,E109K,E439D,F400L,G532A,H489Q,I318T,L163M,M373V,P433L,P58L,P703L,P705K,Q386R,R14W,R18H,R313H,R495H,R497C,R530W,R550Q,R701C,R706G,S229T,S603L,T257I,T471A,V120M,V135I,V164L,Y462C" "0,0,1,1,1,1,0,0,0,0,1,0,0,0,0,0,0,1,1,1,1,0,1,1,0,1,0,0,1,0,0,0,0,0,1" 10483 3457 hgmd1577;sw11324;evn135;dbsnp25301;hgmd0613_1582 NP_009145;SEC63_HUMAN;NP_009145.1 "D675E,E757D,I77T,R420C,T676I,V556I" "0,0,0,0,0,0" 11231 3516 hgmd1578;sw9418;evn227;dbsnp28745;hgmd0613_2052 NP_076982;SEBP2_HUMAN;NP_076982.3 "A141V,A615V,G492V,K813T,M233I,M498V,N232S,P136T,P340A,Q428E,Q463R,R540Q,S346F,T327N,V209I,V767M,Y90C" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 79048 2870 hgmd1579;evn220;dbsnp26866;hgmd0613_1628 NP_036563;NP_036563.1 "F178L,H6Y,I48V,I702V,I717V,N683S,P96L,R208P,R500W,R690K,R760H,S185G,S545P,S701I,T60A,Y305H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9723 3342 hgmd157;pmd598.1;pmd599.1;pmd1947.1;pmd2174.3;sw1652;sws171;spmut142;evn229;dbsnp26721;dbsnp26722;hgmd0613_31 NP_000039;ARLY_HUMAN;NP_000039.2;NP_001020114.1 "A102E,A398D,D31N,D87G,H33Q,I425S,L81P,M230V,M360T,M382R,Q286R,R111W,R113Q,R12Q,R186Q,R191Q,R193Q,R236W,R456W,R95C,T131M,V335L" "0,1,1,1,0,0,0,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1" 435 7314 hgmd1580;sw10239;dbsnp13537;dbsnp13538;dbsnp13540;hgmd0613_2024 NP_071762;SEM4A_HUMAN;NP_001180229.1;NP_071762.2;NP_001180230.1 "A676V,D345H,D750V,F350C,G484A,G7D,M434T,P682S,R510Q,R540Q,R561H,S442L,S442W" "0,1,0,1,0,0,0,0,0,0,0,0,0" 64218 3508 hgmd1583;pmd58.1;pmd159.1;pmd160.2;pmd460.1;pmd467.1;pmd1266.1;pmd1476.1;pmd1477.1;pmd1478.1;pmd1507.1;pmd1508.1;pmd1509.1;pmd1510.1;pmd1511.1;pmd1512.1;pmd1528.1;pmd1529.1;pmd1583.4;pmd1584.5;pmd1591.3;pmd1592.4;pmd1593.5;pmd1594.6;pmd1595.7;pmd1596.8;pmd1597.9;pmd1598.10;pmd1680.1;pmd1681.1;pmd1682.1;pmd1689.1;pmd1690.1;pmd1776.1;pmd1795.1;pmd1885.1;pmd1898.1;pmd1899.3;pmd2214.1;pmd2365.1;pmd2366.1;pmd2677.1;pmd2867.1;pmd3297.1;pmd3613.1;pmd4576.1;sw1476;spmut12;evn801;dbsnp5381;dbsnp5382;dbsnp5383;dbsnp5384;dbsnp5385;dbsnp5386;dbsnp5387;dbsnp5388;dbsnp5389;dbsnp5390;dbsnp5391;hgmd0613_246 NP_000286;A1AT_HUMAN;NP_000286.3;NP_001002235.1;NP_001002236.1;NP_001121172.1;NP_001121173.1;NP_001121174.1;NP_001121175.1;NP_001121176.1;NP_001121177.1;NP_001121178.1;NP_001121179.1 "A308S,A360T,A58S,A58T,A84T,D26A,D280V,D322E,D365N,E228K,E387K,E400D,G139S,G172R,G172W,G339E,G91E,H286Y,H293Q,H67Q,I116N,L65P,M382R,M409V,P112T,P2L,P386H,P386S,P386T,P393L,P415H,Q180E,R247C,R63C,S354F,S4L,S69F,S77F,T109M,T37A,T92I,V237A,V240M,V326I" "0,1,0,0,1,0,1,0,1,1,0,0,1,1,0,0,1,0,0,0,1,1,1,0,0,0,0,0,0,1,1,0,1,1,0,0,0,1,1,0,1,0,0,0" 5265 8192 hgmd1584;sw11457;spmut2411;dbsnp5466;dbsnp5467;hgmd0613_1794 NP_057270;ZPI_HUMAN;NP_001094077.1;NP_057270.1 "A311T,F145L,F434Y,G139R,G21S,G271S,K46R,L158Q,L7I,M410R,Q384P,Q384R,R154H,R196H,R88Q,S143Y,S61G,T161S,T386A,V174I,V253A" "0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0" 51156 7687 hgmd1585;pmd468.2;pmd3612.1;sw1477;dbsnp5399;hgmd0613_641 NP_001076;AACT_HUMAN;NP_001076.2 "A14V,A167G,A274T,A9T,D407G,H24Y,H359Q,K237R,K267R,L78P,M290I,M401V,P252A,P25S,P6L,R124C,R255W,R298Q,R3K" "0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0" 12 8076 hgmd1586;dbsnp6012;hgmd0613_820 NP_001747;NP_001747.2 "A73V,C8F,H36R,P25S,T14I,T14S,V20I" "1,0,0,0,0,0,0" 866 8488 hgmd1587;pmd374.2;pmd2166.1;pmd2210.1;pmd2337.1;pmd2338.1;sw1710;evn950;dbsnp29622;hgmd0613_295 NP_000345;THBG_HUMAN;NP_000345.2 "A133P,A211T,E414D,H351Y,I116N,I384V,K352M,L247P,L303F,M284I,N411D,P383L,Q243K,R294C,S43T,V8F" "1,1,0,1,1,0,0,1,0,0,0,1,0,0,1,0" 6906 7865 hgmd1588;dbsnp10381 NP_536723;NP_536723.2 "A181T,E51A,I354T,L103F,L204V,M115T,T148M,T169I,T293I" "0,0,0,0,0,0,0,0,0" 89778 8747 hgmd1589;sw3053;evn310;dbsnp10382 NP_002630;SPB5_HUMAN;NP_002630.2 "C183R,C287S,D191Y,G48C,I105T,I319V,K277R,L15V,M197I,S176P,V187L,V66I" "0,0,0,0,0,0,0,0,0,0,0,0" 5268 9088 hgmd1590;pmd56.1;pmd57.1;pmd469.3;pmd1368.2;pmd1369.3;pmd1370.1;pmd1372.2;pmd1554.1;pmd1555.1;pmd1559.2;pmd1611.1;pmd1629.1;pmd1630.1;pmd1708.1;pmd1709.1;pmd1710.1;pmd1718.1;pmd1719.1;pmd1720.1;pmd1831.1;pmd1848.1;pmd1849.1;pmd1913.1;pmd1914.1;pmd1986.1;pmd2060.1;pmd2192.1;pmd2193.1;pmd2412.1;pmd2413.1;pmd2449.1;pmd2450.1;pmd2706.1;pmd2707.1;pmd2755.1;pmd2756.1;pmd3379.1;pmd3380.1;pmd3381.1;pmd3382.1;pmd3383.1;pmd3384.1;pmd3531.1;pmd3638.1;pmd4292.1;sw1475;spmut101;evn1158;dbsnp13568;hgmd0613_397 NP_000479;ANT3_HUMAN;NP_000479.1 "A325V,A414T,A416P,A416S,A419V,A436T,A459D,C127R,C160Y,C32R,C462F,D398H,E269K,E334K,F261L,F434C,F434L,F434S,G360S,G424D,G456R,H152Y,H33Q,I251T,I316N,I39N,I453T,K146E,L131F,L131V,L158P,L178H,L23P,L302P,L441P,L98P,M121K,M283I,M283V,M52T,N167T,N219D,N219K,N437K,P112T,P439L,P439T,P461L,P73L,Q133K,Q150P,R161Q,R177C,R391Q,R425C,R425H,R425P,R438G,R438M,R457T,R56C,R79C,R79H,R79S,R89C,S148P,S214F,S214Y,S223P,S236P,S323P,S381P,S397P,S412R,S426L,T10N,T147A,T243I,T41I,V9I,W257R,Y17S,Y190C,Y198C,Y198H,Y95C,Y95S" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,1,0,0,1,1,1,1,1,1,1" 462 7317 hgmd1591;pmd1755.1;pmd1806.1;pmd1834.1;pmd1836.1;pmd1967.1;pmd1968.1;pmd3819.1;sw1711;spmut860;evn602;dbsnp17262;hgmd0613_150 NP_000176;HEP2_HUMAN;NP_000176.2 "A277V,A7T,D77E,E29K,E447K,G31E,H60P,K237R,L129V,M416T,N136I,P462L,R208H,R314W,S87N,T442M,V156A,V445L" "0,0,0,0,1,0,0,0,0,0,0,1,1,0,0,0,0,0" 3053 6685 hgmd1592;pmd946.1;pmd1921.1;pmd1922.1;pmd1923.1;pmd1996.1;pmd1997.1;pmd1998.1;pmd1999.1;pmd2000.1;pmd2001.1;pmd2002.2;pmd2003.1;pmd2004.2;pmd2323.1;pmd3120.1;pmd3121.1;pmd3122.1;sw1684;evn828;dbsnp25897 NP_000593;PAI1_HUMAN;NP_000593.1 "A119V,D204N,G217D,H25P,M225I,N173D,N232S,Q326R,R209H,T207I,T255N,T8A,V17I,V31M,Y243C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5054 8536 hgmd1593;sw3054;evn815;dbsnp8828 NP_002606;PEDF_HUMAN;NP_002606.3 "A360V,D176N,D201N,I150V,I301T,K147N,L305V,M272T,P132H,P132R,P418T,Q335R,S81C,T75M,V68L,Y232H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5176 8193 hgmd1594;sw1855;dbsnp8768;dbsnp8769;hgmd0613_529 NP_000925;A2AP_HUMAN;NP_000925.2;NP_001159392.1 "A138T,A27V,A2V,A91T,A98G,G158D,G377S,G38R,H146Q,P451L,P451S,R271H,R33Q,R33W,R434K,T75I,V411M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 5345 6819 hgmd1595;pmd625.1;pmd1717.1;pmd2433.1;pmd2455.2;pmd2532.1;pmd3500.2;pmd3900.1;sw1688;dbsnp1266;dbsnp1267;hgmd0613_43 NP_000053;IC1_HUMAN;NP_000053.2;NP_001027466.1 "A456E,A458T,A458V,A465V,C130Y,D39E,D408V,F477S,G345R,G429R,G493E,L481P,L481R,P323L,P489R,P498R,P498S,Q474E,Q485E,R466C,R466H,R466L,R466S,T308S,T394P,T467P,T48A,T95I,V454E,V473E,V473M,V480M,V56A" "1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,0,1,1,0,0,1,1,1,0,0" 710 6655 hgmd1596;sw3458;evn880;dbsnp2202;dbsnp2203;hgmd0613_742 NP_001226;SERPH_HUMAN;NP_001193943.1;NP_001226.2 "A41P,E14A,G31A,I161L,L78P,R148S,R194S,S350T,T189A,V407L" "0,0,0,0,1,0,0,0,0,0" 871 8194 hgmd1597;sw9470;evn112;dbsnp20838;dbsnp20839;hgmd0613_1302 NP_005016;NEUS_HUMAN;NP_001116224.1;NP_005016.1 "A135E,A280T,D173G,F7L,F89V,G18A,I26T,K70E,M395V,N83I,R36S,S102N,S14G,S49P,S52R,V114M,V276I,V97I" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0" 5274 8375 hgmd1598;sw6631;dbsnp28410;hgmd0613_1724 NP_055861;SETX_HUMAN;NP_055861.3 "A1406G,A1478E,A660G,C1554G,D1077N,D1192E,D1197N,D1197Y,D1507A,D2624Y,D607A,D994G,F1152C,F1756S,G1252R,G739E,H1379R,I1386V,I2547T,I2587V,I705L,I718N,K1190E,K1221N,K801E,K827E,L158V,L2664P,L389S,M274I,N1004D,N603D,N669Y,P1061L,P1270L,P1331L,P1661R,P1721S,P2213L,P2368R,P2575L,P413L,Q1104E,Q1276E,Q1639P,Q2000E,Q585R,Q653K,R1294C,R1538W,R20H,R2136H,R332W,S2497N,S2612G,S2G,T1322N,T1825A,T1855A,T1855P,T2478A,T372P,T3I,V2579F,V891A,W305C,Y237C" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,1,0,0,0,0,0,0,1,1,0,1,0,0,0,0,0,1,1,0,0,1,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0" 23064 196 hgmd1599;dbsnp142;hgmd0613_655 NP_001092138;NP_001092138.1 "A91P,E105A,Q223K,R213G,R85C,R85H,T9N,V81I" "0,0,0,0,0,0,0,0" 729238 11628 hgmd159;pmd2939.1;sw3246;spmut48;dbsnp9615;dbsnp9616;hgmd0613_32 NP_000040;ACY2_HUMAN;NP_000040.1;NP_001121557.1 "A287T,A305E,A57T,C152R,C152W,C152Y,C310G,C4R,D114E,D114Y,D249V,D68A,E235K,E24G,E285A,F295S,G123E,G274R,G27R,H21P,H244R,I143T,I16T,I170T,I220T,M195R,M82T,P181T,P183H,P280L,P280S,R168C,R168H,V186F,V278M,Y231C" "1,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,0,1" 443 10572 hgmd15;sw9021;dbsnp7940;dbsnp7941 NP_115972;ABCCB_HUMAN;NP_115972.2;NP_149163.2 "A317E,A666T,D22N,E697G,G1230E,G1275S,G440D,G54A,G786A,G786D,H1344R,H528Y,H562Q,I225F,I748V,K359R,K529E,K735R,L481M,M970V,N1277I,N1277Y,N521K,P279L,P78S,Q1245L,R1190H,R19H,R229H,R630W,R75H,R918W,R995Q,T546M,V1065M,V1157M,V491I,V648I,V687I,V955F,W8C,Y695C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85320 1011 hgmd1600;dbsnp18260;dbsnp18261;hgmd0613_2472 NP_942140;NP_000533.3;NP_942140.2 "A295T,E111D,F213L,G147S,G195E,G195R,G302E,G76R,H2P,L188F,Q349L,R284H,T103M,T143I,V189I,V267I,Y138D" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 6439 8721 hgmd1601;dbsnp27314;dbsnp27315;hgmd0613_1004 NP_003009;NP_003009.2;NP_001165881.1 "H32Y,S186N,T138N" "0,0,0" 6440 13027 hgmd1602;sw4994;dbsnp9609;hgmd0613_9 NP_000014;SGCA_HUMAN;NP_000014.1 "A93V,D97G,E137G,E137K,G68E,G91R,I103T,I124T,L158F,L173P,L31P,L89P,P205H,P228Q,P30L,R284C,R34C,R34H,R374C,R74W,R77C,R98C,R98H,V175A,V196I,V242A,V247M,Y310C,Y62H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1" 6442 8848 hgmd1603;sw4993;evn1;dbsnp22219;hgmd0613_192 NP_000223;SGCB_HUMAN;NP_000223.1 "E28G,G139D,G167S,G315R,I119F,I166V,L108R,M100K,Q11E,R267H,R51C,R91C,R91L,R91P,S114F,S31I,S31N,T126A,T151R,T182A,T265I,Y184C" "0,1,1,0,1,0,1,1,1,0,0,1,1,1,1,0,0,0,1,1,0,1" 6443 10430 hgmd1604;evn707;dbsnp23869;hgmd0613_279 NP_000328;NP_000328.2 "N154D,R31G,R97Q" "0,0,0" 6444 10625 hgmd1605;sw714;evn827;dbsnp26692;hgmd0613_1130 NP_003910;SGCE_HUMAN;NP_003910.1 "C271Y,G112R,H60P,H60R,I397M,L175S,L184P,L196R,M92T,N49S,P399H,P399L,Q352R,S177C,S39T,T257P,T36R,W100G,W270R,Y115C" "1,1,1,1,0,1,1,1,1,0,0,0,0,1,0,0,1,1,1,1" 8910 7374 hgmd1606;dbsnp5184;hgmd0613_191 NP_000222;NP_000222.1 "E180V,G278S,L53F,L71S,P268L,R116H,R32G,R3H" "0,0,0,0,0,0,0,0" 6445 10625 hgmd1607;pmd766.1;pmd767.1;sw3528;dbsnp9294;hgmd0613_164 NP_000190;SPHM_HUMAN;NP_000190.1 "A214D,A234G,A354P,A44T,D179N,D235N,D235V,D273N,D32E,D32G,E300V,E355K,E369K,E447K,F193L,G122R,G191R,G251A,G90R,H446R,H84Y,I322S,L146P,L163P,L386R,M372I,M394I,M88T,N389K,N42K,P128L,P227R,P288S,P293S,P293T,Q307P,Q380R,Q85R,R150Q,R150W,R182C,R206P,R245H,R304L,R377C,R377H,R428H,R433Q,R433W,R441Q,R456H,R61C,R74C,R74H,S106R,S298P,S364R,S66W,T139M,T321A,T79P,V131M,V220L,V220M,V226A,V361I,V387M,V486F,Y374H,Y40N" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,1,1,1" 6448 6615 hgmd1608;pmd1082.1;pmd1083.2;sw903;spmut1921;dbsnp30491;hgmd0613_921 NP_002342;SH21A_HUMAN;NP_002342.1 "A3S,C42W,D33Y,F87S,G16D,G27S,G49S,G49V,H8D,I84T,L31P,P101L,Q99P,R32T,R55L,S28R,S57P,T53I,T68I,V102G,Y54C,Y7C" "1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 4068 14273 hgmd1609;sw3898;dbsnp22361;dbsnp22364;hgmd0613_1005 NP_003014;3BP2_HUMAN;NP_003014.3;NP_001116153.1 "A155V,A314V,D219H,E525K,G313R,G420E,H100R,M12V,P215T,P261R,P418H,P418L,P418R,R384Q,R415P,R415Q,R477W,R552W,R80Q,S456P,S505C" "0,0,0,0,0,1,0,0,0,0,1,1,1,0,1,1,0,0,0,0,0" 6452 4938 hgmd160;sw7297;dbsnp13192;hgmd0613_1876 NP_060606;ASPM_HUMAN;NP_060606.3 "A1258T,A1406T,A1767P,A1860V,A1877T,A2817S,A663S,A755T,A75P,A75T,C1941R,C2776Y,C302Y,C3226G,D2042G,D990N,E2089K,E215A,E216K,H2386R,H3258R,I1945V,I3085T,I313V,I740L,K1077Q,K1479R,L2647I,L2978S,L3132R,M1983L,M2752R,N2092I,N282H,N484S,P623T,Q1736E,Q1824R,Q1914R,Q1940E,Q2620H,R1264H,R1405C,R1499L,R1578Q,R1599Q,R1695C,R1729W,R1818C,R2690W,R2842W,R2853W,R3096Q,R3304Q,R430G,R573W,S1090F,S2557C,S2562G,S3297Y,S580R,S650C,S922N,T1688I,T336K,T869S,V2243L,V2596A,Y2494H,Y2989C,Y462C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259266 105 hgmd1610;sw38;dbsnp23951;hgmd0613_571 NP_001017995;SPD2B_HUMAN;NP_001017995.1 "A431T,A857S,D515N,D848E,K341E,P295Q,P329L,P571L,P826L,Q710E,R43W,R448Q,R698Q,T233I,T381A,T445A,T652M,V743M,V800I,Y101F" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 285590 2547 hgmd1611;sw8318;evn495;dbsnp23519;hgmd0613_2074 NP_078853;S3TC2_HUMAN;NP_078853.2 "A1121V,A393V,A468S,A468V,A590T,A80T,D1229V,D25Y,E503K,E657K,E769G,F399L,G171E,H1180N,H696R,H938Y,I838V,L391R,M1184V,N897K,P251S,Q1162R,Q46P,Q86R,R1012Q,R1127Q,R1215H,R529H,R529Q,R605H,R621H,R658C,R861Q,R89H,S265F,S312L,T277K,T27A,T495A,V1158I,V230A,V414M,V508M,Y169H" "0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1" 79628 1183 hgmd1613;pmd2388.1;pmd2389.1;pmd3145.1;sw1648;evn439;dbsnp8537;hgmd0613_594 NP_001031;SHBG_HUMAN;NP_001031.2 "A179P,C390Y,D356N,D376N,E144K,E234K,L279F,P185L,Q284H,R152C,R22H,R25H" "0,0,0,0,0,0,0,1,0,0,0,0" 6462 8537 hgmd1614;sw4871;spmut1930;dbsnp26715;hgmd0613_158 NP_000184;SHH_HUMAN;NP_000184.1 "A110D,A110T,A226T,A275E,A346V,A373T,A376D,A383T,A391T,C102R,C102Y,C183F,C183R,C183Y,C198F,C198S,C363Y,D147N,D171H,D222N,D83V,D88V,E136K,E188Q,E53K,F170C,F241L,F241V,F377S,G143D,G196E,G197V,G231V,G27A,G290D,G296A,G31R,G456R,H140P,H140Q,H374R,I111F,I111N,I255N,I354T,I84F,L109F,L17P,L218P,L234P,L271P,L382P,L39P,N115K,N81D,P26L,P347L,P347Q,P347R,P424A,Q100H,R144P,R232G,R310C,R321S,R381P,R6T,S156R,S184L,S236N,S236R,S280W,S362L,S436L,T150K,T150R,T267I,T416A,V124M,V224E,V332A,W117G,W117R,Y364C,Y435N" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 6469 7356 hgmd1615;sw11677;evn992;dbsnp1192;hgmd0613_1594 NP_031399;SHOC2_HUMAN;NP_031399.2 "A304S,A60I,D52E,E13D,N527S,N529H,Q413H,S154N,S218I,S287N,S2G,S325T,S532G,T261I,T321A,V18A,V348M" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 8036 5374 hgmd1616;sw566;hgmd0613_372 NP_000442;SHOX_HUMAN "L132V,R153L,R168W,R173C" "1,1,1,1" 6473 11039 hgmd1617;sw2177;evn212;dbsnp20641;hgmd0613_595 NP_001032;SUIS_HUMAN;NP_001032.2 "A1654G,A893V,C1229Y,D1261N,D1623A,E1021Q,E1414K,F1194Y,F1745C,G1073D,G794S,I1111V,I1378S,I162V,I229L,I389N,I389T,I799V,K1709N,K178Q,K1793T,L1772V,L341P,L620P,M1523I,M1719T,N1005T,N144S,P1200S,P173A,P348L,Q1000P,Q1098P,Q117R,Q930R,R1105C,R1367G,R1808H,R774G,R774K,R963K,S1795L,S186P,S200G,S594P,T1258A,T1574S,T1802S,T231A,T231S,T694P,V1239L,V15F,V1651I,V1667I,V1667L,V371M,V577G,Y781F,Y975H" "0,0,1,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,1,1,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0" 6476 518 hgmd1618;sw10113;dbsnp23783;dbsnp23784;hgmd0613_2032 NP_071909;SIL1_HUMAN;NP_071909.1;NP_001032722.1 "D208A,D63E,E347K,G451S,K132Q,L104V,Q80R,R411C,R411G,R413H,R92W,T123I,T51I,V262A,V66I" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 64374 7381 hgmd1619;sw4874;evn943;dbsnp6188;hgmd0613_1435 NP_005973;SIX1_HUMAN;NP_005973.1 "A241T,G236S,G25E,H73P,N193I,P249L,P256S,Q261P,R110Q,R110W,R112C,R99C,S257A,S257G,T252A,T262A,V106G,V17E,W122R,Y129C" "0,0,0,1,0,1,0,0,1,1,1,0,0,0,0,0,1,1,1,1" 6495 3354 hgmd161;sw1472;evn983;dbsnp29166;dbsnp29167;hgmd0613_33 NP_000041;ASSY_HUMAN;NP_000041.2;NP_446464.1 "A118T,A192V,A202E,A339T,C19R,D124N,D296G,E191K,E191Q,E256K,E270Q,E283K,G117D,G117S,G14S,G280R,G324S,G324V,G347R,G362V,G390R,K277T,K310Q,K310R,L160P,L206P,M302V,N158S,N177S,P96H,P96S,Q138H,Q40L,R100H,R108L,R108W,R127Q,R127W,R157C,R157H,R265C,R265H,R272C,R279Q,R304W,R307C,R363G,R363L,R363Q,R363W,R66K,R86C,R86H,R95S,S131T,S180N,S18L,S341F,S65I,S79P,T119I,T208A,T284I,T386I,T389A,T389I,V263M,V269M,V345G,V69A,W179R,Y190D,Y291S,Y359D" "1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,0,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,0,1,1,0,1,0,0,1,1,1,1,1,1,1,1,1" 445 8324 hgmd1620;evn944;dbsnp19718;hgmd0613_1814 NP_058628;NP_058628.3 "A265V,G262A,H42Q,L232I,N190S,P241L,S197N,V255A" "0,0,0,0,0,1,0,0" 10736 10088 hgmd1621;sw1278;dbsnp19640;hgmd0613_1364 NP_005404;SIX3_HUMAN;NP_005404.1 "G69D,H173P,I105V,L226V,L29P,P231R,R257P,R257W,T202I,V250A,V92G" "1,1,1,1,0,1,1,1,1,1,1" 6496 10088 hgmd1622;dbsnp11259;hgmd0613_2410 NP_787071;NP_787071.2 "A296T,D271N,G365R,P635S,P648L,T552M,V595M,V693M" "1,0,1,0,0,1,0,0" 147912 3704 hgmd1623;sw1315;evn460;dbsnp6016;hgmd0613_1595 NP_031400;SIX6_HUMAN;NP_031400.2 "D210E,E129K,H141N,I246N,L205R,P213S,T165A,T220A" "0,0,0,0,0,0,1,0" 4990 10088 hgmd1624;pmd261.1;dbsnp5243;hgmd0613_373 NP_000443;NTCP2_HUMAN;NP_000443.1 "C144Y,F296L,F304L,G77E,N27S,P142L,P290L,P65L,V159I,V98I" "0,0,0,0,0,0,0,0,0,0" 6555 9701 hgmd1625;evn1099;dbsnp4294;dbsnp4296;dbsnp4297;hgmd0613_463 NP_000608;NP_000608.1;NP_001167600.1;NP_001167599.1 "A209T,I298T,I420V,L435I,R500W,S37P,S66N,Y62H" "0,0,0,1,0,0,0,0" 4891 5270 hgmd1626;sw4552;evn936;dbsnp6507;hgmd0613_280 NP_000329;S12A1_HUMAN;NP_000329.2 "A139T,A733V,A737T,A737V,A752V,A788T,C644Y,C69F,D37N,D52E,D648N,E986D,G428A,I740M,L211F,L763V,N848S,N848T,R116H,R20H,R57T,R761Q,R858L,R982K,S24N,S730G,S76G,S883I,T872A,V272F,V317I,V958A,V9I" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 6557 1388 hgmd1627;dbsnp7811;hgmd0613_281 NP_000330;NP_000330.2 "A13P,A322V,A469V,A728T,A788V,E121D,E310K,G695R,G741R,G800R,G989R,I150M,I521V,I758T,K683R,K934R,N566Y,N622S,P643L,P656L,R399H,R399L,R863K,R913Q,R928C,R943Q,R944W,S107R,S833T,S997L,V404I" "1,1,0,1,0,1,0,0,1,0,1,1,0,0,0,0,0,0,1,1,0,0,0,0,1,0,0,0,1,0,0" 6559 1980 hgmd1628;sw11377;evn563;dbsnp6644;hgmd0613_2261 NP_598408;S12A6_HUMAN;NP_598408.1 "A418V,F415S,G407R,H303R,H84N,H84Y,I396M,I396S,I442V,I89T,L763M,L92P,M314L,N151S,P78A,R338C,R836K,S311A,S449G,S466F,S471T,T180A,V293I,V389I,V429I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9990 1553 hgmd1629;sw4466;dbsnp10359;dbsnp10360;hgmd0613_1773 NP_056949;UT1_HUMAN;NP_056949.4;NP_001139508.2 "D280N,E44K,G65S,M167V,Q21R,R64Q,V10M,V175I,V76I,W171R" "0,0,0,0,0,1,0,0,0,0" 6563 7677 hgmd162;sw6901;hgmd0613_2197 NP_149053;ATCAY_HUMAN S301R 1 85300 136 hgmd1630;sw3624;evn781;dbsnp13231;dbsnp13232;hgmd0613_1009 NP_003042;MOT1_HUMAN;NP_001159968.1;NP_003042.3 "A347E,D490E,G355R,G472R,I101M,I325V,K204E,N107Y,P202S,P327S,S85G,V114F,V91I" "0,0,0,1,0,0,1,0,0,0,0,0,0" 6566 6656 hgmd1631;evn532 NP_006508;NP_006508.2 Q60H 0 6567 4988 hgmd1632;sw10714;evn882;dbsnp24369;hgmd0613_1629 NP_036566;S17A5_HUMAN;NP_036566.1 "A29T,A478T,C341R,F329L,G371V,H183R,K136E,M185V,P334R,R28L,R39C,S300F,V296I,V393I,V442I" "0,0,0,0,1,1,1,0,1,0,1,0,0,0,0" 26503 6736 hgmd1633;sw7781;evn759;dbsnp4187;hgmd0613_2293 NP_647480;VGLU3_HUMAN;NP_647480.1 "A178T,A211V,A220T,G246E,H68R,K12N,S176A,S410L,T587A,T8I" "0,1,0,0,0,0,0,0,0,0" 246213 5278 hgmd1634;sw888;dbsnp14843;hgmd0613_1562 NP_008927;S19A2_HUMAN;NP_008927.1 "D93H,G172D,R275L,S107G,S143F,T365S,V266M" "1,1,0,0,1,0,0" 10560 6710 hgmd1635;sw9943;dbsnp19213;hgmd0613_2112 NP_079519;S19A3_HUMAN;NP_079519.1 "A150T,A165E,F352L,G141S,G23V,I207M,I378V,L188V,S382N,S457N,T422A,V146I,V174I,V350A,Y63H" "0,0,0,0,1,0,0,0,0,0,1,0,0,0,0" 80704 6710 hgmd1636;sw3196;evn1043;dbsnp23229;hgmd0613_1163 NP_004163;EAA1_HUMAN;NP_004163.3 "E219D,I357V,I63T,L326F,M11T,N530S,P290R,R163Q,R385H,R499Q,R76Q,S4T,V309M,V507A" "0,0,0,0,0,0,1,0,0,0,0,0,0,0" 6507 5626 hgmd1637;sw9386;evn115;dbsnp2575;hgmd0613_2299 NP_653186;S22AC_HUMAN;NP_653186.2 "A226V,A71S,E298D,E429K,G164S,G290C,G65W,H402R,I305S,I75T,L144P,L418R,M29L,M29T,M430T,Q297E,Q297R,Q312L,Q382L,R284G,R325W,R434H,R477H,R90H,R92C,S62G,T217M,T408M,V138M,W294G" "0,0,1,0,1,1,0,0,1,1,0,1,0,0,1,1,0,0,1,1,0,0,1,1,0,0,1,0,1,0" 116085 5789 hgmd1638;sw1076;evn796;dbsnp25071;hgmd0613_2009 NP_068812;S22A3_HUMAN;NP_068812.1 "A111S,A116S,A169T,A439V,G475S,K299N,R293C,R298Q,R348W,R407H,R553S,S106G,T400I,T44M,V11A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6581 5751 hgmd1639;pmd260.1;pmd4471.2;sw1147;spmut1855;dbsnp23575;hgmd0613_1011 NP_003051;S22A5_HUMAN;NP_003051.1 "A142S,A214V,A240T,A301D,A442I,A485T,D122Y,E452K,F17L,F230L,F443V,F508L,G12S,G15W,G234R,G242V,G484V,G96A,I312V,L114P,L144F,L186P,L20H,L507S,M177V,M179L,M381T,M417V,M530I,M530V,N32S,P143L,P398L,P455R,P46S,P478L,P549S,R169Q,R169W,R19P,R227H,R257W,R282Q,R399Q,R399W,R471C,R471P,R488C,R488H,R548K,R75P,R83L,S26N,S280F,S355L,S362L,S467C,T232M,T264R,T440M,T468R,T66P,V123G,V446F,V481F,V481I,V527L,W283C,W351R,Y211C,Y358N,Y447C,Y449D" "1,1,0,1,1,0,1,1,1,0,1,0,1,1,1,1,0,0,0,0,0,1,0,1,0,1,0,0,0,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,0,1,1,1,0,1,1" 6584 5732 hgmd163;sw2376;evn704;dbsnp13586;dbsnp13588;hgmd0613_803 NP_001665;ATF3_HUMAN;NP_001025458.1;NP_001665.1 "I76V,P26S,S12L,S24C,S68R,T38M" "0,0,0,0,0,0" 467 13338 hgmd1640;spmut1325;evn333;dbsnp29215;hgmd0613_1934 NP_065077;NCKX2_HUMAN;NP_065077.1 "F282C,F477L,I654F,K33R,K33T,K93R,N601S,R296C,R468H,S29N,S29R,V284I" "1,0,0,0,0,0,1,0,0,0,0,1" 25769 4466 hgmd1641;sw1074;evn287;dbsnp19270;hgmd0613_1099 NP_003696;CMC1_HUMAN;NP_003696.2 "A468T,A552T,M176V,Q590R,R243K,R32H,R42C,R473Q" "0,0,0,1,0,0,0,0" 8604 4284 hgmd1642;sw11429;evn8;dbsnp26088;hgmd0613_1671 NP_055066;CMC2_HUMAN;NP_055066.1 "E141K,E248G,E601K,G363V,H213R,K669E,L232I,P502L,P540S,Q274R,R567K,S666P,T152A,T243N,T446P,V452I,V507L,V507M,V637A,V665A" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 10165 4284 hgmd1643;sw12027;evn624;dbsnp5193;hgmd0613_1672 NP_055067;ORNT1_HUMAN;NP_055067.1 "A70L,E180K,F188L,G113C,G189S,G190D,G216S,G27E,G27R,I250M,I254L,L283F,L43V,L47F,L71Q,M273K,M37R,N255S,N259D,P126R,R236G,R275Q,R61H,R93Q,T272I" "1,1,1,1,0,1,1,1,1,0,0,1,0,0,1,1,1,0,0,1,0,1,0,0,1" 10166 10827 hgmd1644;sw10510;evn1092;dbsnp10050;dbsnp10051;dbsnp10052;hgmd0613_1994 NP_068380;TPC_HUMAN;NP_001119593.1;NP_068380.3;NP_001119594.1 "A189T,F281C,G125S,G177A,M266R,R116Q,R261K,R52H,S56N" "0,0,1,1,0,0,0,0,0" 60386 10389 hgmd1645;sw753;evn78;dbsnp21031;hgmd0613_320 NP_000378;MCAT_HUMAN;NP_000378.1 "A209V,A76P,D231H,I196V,Q238R,Q4H,R133W,R258Q,S120P,S147T,T298I,T69R,V122I" "0,0,1,0,1,0,1,0,0,0,0,0,0" 788 10828 hgmd1646;sw10402;dbsnp2996;dbsnp2997;dbsnp2998;hgmd0613_2083 NP_078974;GHC1_HUMAN;NP_001177989.1;NP_001177990.1;NP_078974.1 "A292V,D51N,F89L,L150V,P206L,T47M,V57I" "0,0,0,0,1,0,0" 79751 10311 hgmd1647;sw4005;dbsnp4619;hgmd0613_1423 NP_005879;MPCP_HUMAN;NP_005879.1 "A236T,D202V,G314V,G72E,T16M" "0,0,0,1,0" 5250 9352 hgmd1648;sw8863;evn585;dbsnp21052;hgmd0613_1855 NP_060345;S2538_HUMAN;NP_060345.2 "D209H,G130E,H170R,M128V,N4S,P7Q,R134H,R187P,R269C,R54H,R66G,S153N,T80R,V127I" "1,1,0,0,0,0,1,1,0,0,0,0,0,0" 54977 10769 hgmd1649;sw2083;dbsnp22366;hgmd0613_712 NP_001142;ADT1_HUMAN;NP_001142.2 "A114P,A123D,A90D,D104G,I161V,I164V,L98P,R236G,V289M" "1,1,1,1,0,0,1,0,1" 291 10542 hgmd164;pmd559.1;sw2882;evn190;dbsnp18581;hgmd0613_1145 NP_004035;PUR9_HUMAN;NP_004035.2 "A510T,A557V,D191E,E412K,E529D,E533K,G500D,I572T,K426R,N94S,P471S,R335K,S475L,T116S,T380I,V319I,Y464C" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 471 5238 hgmd1650;sw3456;evn980;dbsnp22948;hgmd0613_85 NP_000103;S26A2_HUMAN;NP_000103.2 "A128V,A361T,A715V,C653S,F256S,F349Y,G255E,G678V,H298R,H432R,I219V,I539M,I574T,N10D,N425D,N696S,Q454P,R279Q,R279W,S261C,T695I,V445I,Y232F" "0,0,1,1,1,0,1,1,0,0,0,0,0,0,1,0,1,0,1,0,0,0,0" 1836 3705 hgmd1651;sw3112;dbsnp26262;hgmd0613_84 NP_000102;S26A3_HUMAN;NP_000102.1 "A177V,C307W,C343Y,D468V,D652N,E698Q,F119L,G120S,G379A,H124L,H220P,H237Q,I499V,I544N,I601T,I81V,K521N,K723N,L496R,L568V,M136I,N153S,N753S,P129L,P131L,P131R,R554Q,R68Q,S206P,S398F,T510M,V127M,V425I,Y204D,Y520C" "0,0,1,1,1,0,0,1,1,1,1,0,0,1,0,0,1,0,1,0,1,0,0,1,1,1,0,0,1,1,0,0,0,1,1" 1811 3482 hgmd1652;pmd285.2;sw703;evn46;dbsnp26665;hgmd0613_364 NP_000432;S26A4_HUMAN;NP_000432.1 "A104V,A106D,A179T,A357T,A372V,A411P,C565Y,D271H,D687Y,D724N,E29Q,E384G,E737K,F335L,F667C,F683S,G102R,G139A,G209V,G497S,G672E,G6V,G740D,H723R,I455F,I490L,I539T,I713M,K369E,L117F,L236P,L445W,L465V,L597S,L624P,L676Q,M147V,M21V,M283I,M349I,M775T,N322D,N392Y,N457K,N558K,P123S,P301L,Q421R,Q446R,Q514R,Q730H,R185T,R24G,R291Q,R409C,R409H,R409P,R776C,S133T,S137P,S252P,S347L,S391N,S552I,S666F,S694P,S90L,T132I,T193I,T410M,T416P,T508N,T67S,T721M,T99M,V138F,V144A,V239D,V281I,V402M,V480D,V609G,V653A,Y105C,Y530H,Y530S,Y556C,Y556H,Y78C" "1,1,0,0,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,1,1,0,1,1,1,1,1,0,1,0,1,1,0,1,0,1,1,1,1,1,1,0,1,1,1,0,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,0,1,1,1,1,1,1,1" 5172 3356 hgmd1653;sw6083;evn655;dbsnp28657;hgmd0613_1308 NP_005085;S27A4_HUMAN;NP_005085.2 "A174T,A268T,A92T,C188G,G150S,G209S,G56V,I46F,L288F,N351S,N470K,P574S,Q119L,Q300R,Q71R,R105H,R121Q,R173H,R374C,R420C,R583H,S247P,V435I,Y289C,Y500F" "0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,1,1,0,0,0" 10999 4629 hgmd1654;sw10445;evn403;dbsnp28931;dbsnp28932 NP_071410;S28A3_HUMAN;NP_001186562.1;NP_071410.1 "A366T,A451T,D62H,D72E,E626D,G367R,H623L,I105T,I328V,I371V,K405Q,K528E,K654R,L131F,L418I,L510V,L670V,M424I,P221Q,R349Q,R4K,R585H,R67K,S119L,S5N,S5T,S688P,T323M,T632A,V499M,V57I,Y113C,Y304H,Y513F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64078 4152 hgmd1655;sw9913;spmut1861;evn292;dbsnp73;hgmd0613_1882 NP_060814;S29A3_HUMAN;NP_060814.4 "A213T,A230T,F316V,G163V,G427S,G437R,I169T,I326V,L281P,L43R,M116R,N334S,N375S,R134C,R162C,R18G,R25Q,R363Q,R363W,R83G,S158F,S184R,S23N,T210M,T236M,T449R,V239I,V242M,V407M,V452E,Y102H" "0,0,0,0,1,1,0,0,0,0,1,0,0,1,0,0,0,1,1,0,0,1,0,0,0,1,0,0,0,0,0" 55315 7100 hgmd1656;sw2031;evn425;dbsnp15376;hgmd0613_1517 NP_006507;GTR1_HUMAN;NP_006507.2 "A155V,A275T,A405D,E146K,E299K,E329Q,F104L,G130S,G314S,G382D,G91D,I195V,K183E,K256E,M96V,N317T,N34I,N34S,N34Y,P485L,R126C,R126H,R126L,R153C,R153H,R212C,R212H,R223P,R223W,R333Q,R333W,R93W,S294P,S324L,S55R,S66F,S95I,T295M,T310I,V165I,V303L,V406I,V49I" "1,1,1,1,0,1,0,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,0" 6513 9437 hgmd1657;sw1327;dbsnp16248;hgmd0613_2125 NP_110404;GTR10_HUMAN;NP_110404.1 "A106S,A206T,A385G,A402T,D226N,E437K,E442Q,G142V,G246E,G337A,G426W,G445E,I537V,K196M,K514R,R132W,R225H,R231Q,R534C,S81R,T172I,T518A,V311I" "0,0,0,0,0,1,0,1,1,0,1,1,0,0,0,1,0,1,0,1,0,0,0" 81031 5968 hgmd1658;sw2032;evn1030;dbsnp19900;hgmd0613_282 NP_000331;GTR2_HUMAN;NP_000331.1 "A363S,E83K,I404T,L389P,L478V,P417L,P68L,R53Q,T110I,T198K,T198M,V101I,V197I,V423E" "0,0,0,1,0,1,0,0,0,0,0,0,1,1" 6514 6221 hgmd1659;sw2188;evn797;dbsnp9336;hgmd0613_596 NP_001033;GTR4_HUMAN;NP_001033.1 "A358V,E225D,E443A,G62A,G68V,I182T,I385T,Q234R,R19G,R282H,R285W,R346Q,R349H,S55R,T152I,T78S,T79S,V25F,V339L,V383I" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1" 6517 6221 hgmd165;sw8464;spmut173;dbsnp5990;hgmd0613_1777 NP_056999;ATLA1_HUMAN;NP_056999.2 "A161P,A75T,D43E,E66Q,F151S,F193C,F413V,H247P,H258R,L157W,M408V,N355K,N440T,Q154E,R217Q,R239C,R415W,R495W,S259Y,S398Y,T162P,V253I,Y196C" "1,0,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 51062 5367 hgmd1660;sw10740;dbsnp21939;hgmd0613_1923 NP_064425;GTR9_HUMAN;NP_064425.2 "C36Y,D281H,E191D,E223K,G216R,G25R,L75R,P349L,P350L,R171C,R198C,R294H,R300H,R380W,S22N,T125M,T275M,V204M,V243I,V270A,V282I,V295M" "0,0,0,0,1,0,1,0,0,1,1,0,0,1,0,1,0,0,0,0,0,0" 56606 5980 hgmd1661;evn366;dbsnp15003;hgmd0613_551 NP_001004434;NP_001004434.1 "A12S,A330T,G27E,H52Y,I191T,K6R,L23P,R291H,R340C,R340H" "0,0,0,0,0,0,0,0,0,0" 7780 10337 hgmd1662;sw332;sws11;evn953;dbsnp20312;dbsnp20313;hgmd0613_1259 NP_004724;ACATN_HUMAN;NP_001177921.1;NP_004724.1 "A110P,D171G,D24G,E46K,G47E,G509S,G57R,I412V,N484T,N548S,S113R,V134L" "1,0,0,0,0,0,0,0,0,0,1,0" 9197 5850 hgmd1663;sw4198;evn689;dbsnp23744;hgmd0613_1010 NP_003043;NPT2A_HUMAN;NP_003043.3 "A48F,G450S,H568Y,P609L,P75S,P86S,Q303R,R19H,R25Q,R261H,R261L,R499H,R95C,R95H,R95L,S358A,T391M,V147M,V91G" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 6569 4165 hgmd1664;dbsnp22431;hgmd0613_1506 NP_006415;NP_006415.2 "A22T,C322R,C687S,G146V,I312M,I403V,K281E,L414F,P325L,P44R,P44S,P584T,R513G,T330M,T415S,V45A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10568 4165 hgmd1665;dbsnp29127;dbsnp29128;dbsnp29129;hgmd0613_2243 NP_543153;NP_001170787.1;NP_001170788.1;NP_543153.1 "A488P,D237N,G180A,G264S,G337S,G495A,I529F,R485C,R485H,R537H,R67H,R68L,R68P,S138F,S260N,T267P,T279M,V165I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 142680 4165 hgmd1666;pmd631.2;sw8731;evn741;dbsnp2247;hgmd0613_1883 NP_060859;FUCT1_HUMAN;NP_060859.4 "G250R,I240V,P352S,Q40R,R147C,T308R,T348S,T85M,V200I,V309M,W49S" "0,0,0,0,1,1,0,0,0,0,0" 55343 9314 hgmd1667;sw10809;evn109;dbsnp14352;hgmd0613_1731 NP_055954;S35D1_HUMAN;NP_055954.1 "A189V,A272T,A82T,L101F,N344S,S33L" "0,0,0,0,0,0" 23169 9533 hgmd1668;dbsnp2764;hgmd0613_2330 NP_689477;NP_689477.2 "A136T,A180G,A191T,L19F,P339L,Q147E,R40Q,T133M,T20A" "0,0,0,0,0,0,0,0,0" 91252 9185 hgmd1669;sw6115;dbsnp27489;hgmd0613_2251 NP_570901;S39A4_HUMAN;NP_570901.2 "A114T,A173V,A22E,A286V,A58T,A99T,C309Y,G153D,G330D,G374R,G526R,G630R,L372P,L372V,L378V,L410P,M499V,N106K,P200L,P84L,Q303H,R251W,R54C,R95C,S178C,S201R,S283L,T158M,T357A,T381A" "0,0,0,0,0,0,1,0,1,1,1,1,1,0,0,1,0,1,1,1,1,1,0,1,0,0,0,0,0,0" 55630 4614 hgmd166;dbsnp1506;hgmd0613_34 NP_000042;NP_000042.3 "A112T,A1309T,A1427T,A216S,A869G,A869V,C2159G,C2464R,D126E,D1853N,D1853V,D814E,E1313Q,E2181D,E2570G,E699G,F763L,F858L,G134C,G134R,G134S,G1459R,G2022S,G2023R,G2709S,G3019V,G514D,H1380Y,H1624R,I124V,I289T,K1454N,L1541F,L2307F,L2330V,L2332P,L546V,L942F,M963I,N1005S,N358S,N870D,P1054R,P872S,Q1620P,R114K,R1918T,R2034Q,R2392W,R45W,S1691R,S2146T,S333F,S707P,S978P,S99G,T1697A,T2059I,T2335I,T2335K,T2438I,T2640I,T761S,T935A,T935M,T935R,V1153G,V1161G,V1570A,V1729L,V182L,V2079I,V410A,V630M,V976A,Y1475C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 472 141 hgmd1670;sw4224;dbsnp18066;hgmd0613_283 NP_000332;SLC31_HUMAN;NP_000332.2 "A616T,E268K,E482K,F266S,F599S,F648S,G376S,G398R,G421A,G481V,G600E,I108V,L678P,M467K,M467T,M618I,N253K,P122S,P128Q,P508A,P615T,Q510R,R181Q,R227Q,R270Q,R362C,R362H,R365W,R452W,R456C,R584T,R81C,S263T,T189M,T216M,T341A,T652R,V97A,Y151C,Y461H,Y582H" "0,1,1,1,1,1,0,1,0,1,1,0,1,1,1,0,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1" 6519 4214 hgmd1671;sw10584;evn1059;dbsnp18997;hgmd0613_1695 NP_055400;S40A1_HUMAN;NP_055400.1 "A77D,C326Y,D157G,D181V,D270V,G238A,G267D,G323V,G490D,G554S,G80S,G80V,L239F,M432V,N144D,N144H,N144T,N174I,P443L,Q182H,Q543H,R293C,R371W,R561G,T545N,V221F,Y64N" "1,1,1,1,1,0,1,1,1,0,1,1,0,0,1,1,1,1,0,1,0,0,0,0,0,0,1" 30061 5529 hgmd1672;dbsnp22936;hgmd0613_1793 NP_057264;NP_057264.3 "E267K,I415T,N122S,R318C,R451C,R451H,V504I,V507L,W202C" "0,0,0,0,0,0,0,1,1" 51151 6123 hgmd1673;pmd71.2;pmd1364.1;pmd2221.1;pmd2546.1;pmd2547.1;pmd3374.1;pmd3997.1;sw1575;dbsnp8520;hgmd0613_284 NP_000333;B3AT_HUMAN;NP_000333.1 "A285D,A858D,D25E,D38A,D45E,D705Y,E40K,E508K,E658K,E68K,E72D,E90K,F236V,G130R,G455E,G455R,G609R,G701D,G714R,G771D,H275D,H275N,H734R,H834P,I220T,I442F,I688V,I783N,L153M,L687P,L707P,L73M,M586L,M663K,P147S,P27H,P327R,P820S,P868L,R112S,R180H,R295H,R384H,R490C,R490H,R518C,R589C,R589H,R589S,R602P,R760Q,R760W,R808C,R808H,R832H,R870W,S613F,S690G,S731P,S773P,T581N,T837A,T837M,T837R,V113I,V245M,V446A,V488M,V862I" "1,1,0,0,0,1,1,0,1,0,0,1,0,1,1,1,1,1,1,1,0,0,1,1,0,0,0,1,0,1,1,1,0,1,1,0,1,0,1,0,1,0,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,0,1,1,1,0,0,0,1,0" 6521 2548 hgmd1674;sw7709;evn960;dbsnp16551;hgmd0613_2151 NP_114423;S4A11_HUMAN;NP_114423.1 "A160T,A269V,A314V,A327V,A351T,C386R,E143K,E167D,E399K,E736G,G394R,G418D,G464D,G583D,G709E,G742R,G834S,I448M,K409N,L473R,L843P,L873P,M1I,M483T,M848I,M856V,M91V,N150D,N150S,N72T,P773L,Q408H,R125H,R157H,R161Q,R188Q,R209W,R233C,R282P,R347Q,R347W,R488K,R738L,R755Q,R755W,R804H,R869C,R869H,S213L,S213P,S321G,S489L,S565L,S641G,T322A,T401K,T510M,T561M,T584K,T708A,T754M,T833M,T96S,V575M,V658I,V763I,V824M,Y526C,Y745C" "1,1,0,0,0,1,1,1,1,0,1,1,1,1,1,1,1,0,0,1,1,1,0,0,0,1,0,0,0,0,1,0,1,0,0,0,1,1,1,0,0,1,0,1,1,1,1,1,1,1,0,1,0,0,0,1,0,0,1,0,1,1,0,1,0,0,1,1,0" 83959 2511 hgmd1675;evn1004;dbsnp22449;hgmd0613_1107 NP_003750;NP_003750.1 "A19T,G14E,L606S,M609I,P1019T,S631L,T584A,Y633H" "0,0,0,0,0,0,0,0" 8671 1737 hgmd1676;pmd876.1;pmd877.1;pmd878.1;pmd879.1;pmd880.1;pmd881.2;pmd882.3;pmd883.4;pmd3714.2;pmd4086.1;sw2157;spmut1877;dbsnp17712;hgmd0613_285 NP_000334;SC5A1_HUMAN;NP_000334.1 "A12V,A166T,A304V,A388V,A468V,C292Y,D28G,D28N,F405S,G318R,G356S,G426R,G616S,I531M,L288V,L369S,L527F,N481S,N565D,Q295R,Q457R,R135W,R15W,R300S,R379Q,R499H,S159P,T203M,T519M,V17A,V209L,V33I,W276L" "1,1,1,1,1,1,1,1,1,1,0,1,0,0,0,1,0,0,0,1,1,1,0,1,1,1,1,0,0,0,0,0,1" 6523 4348 hgmd1677;sw8440;dbsnp7860 NP_443176;SC5AB_HUMAN;NP_443176.2 "D498N,E596K,F258L,I292M,L318P,M526I,P636L,Q452R,R374C,S576F,T208M,T47P,T530M,V291M,V539M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115584 4316 hgmd1678;sw2875;dbsnp7421;hgmd0613_1008 NP_003032;SC5A2_HUMAN;NP_003032.1 "E222K,E591D,G192V,G235E,I433V,N654S,P602L,R608C,R651G,T629A,V190M,V470A,V477L,Y671F" "0,0,0,0,0,1,0,0,0,0,0,0,0,0" 6524 4348 hgmd1679;pmd4468.2;sw8637;evn375;dbsnp11745;hgmd0613_374 NP_000444;SC5A5_HUMAN;NP_000444.1 "A102P,A514D,C298G,G209S,G395R,G543E,G93R,L594F,Q267E,R241H,R374W,R555H,R611S,S556Q,T308S,T354P,T536Q,T596A" "0,0,0,0,1,1,1,0,1,0,0,0,0,0,0,1,0,0" 6528 4656 hgmd167;sw10631;dbsnp14921;hgmd0613_2017 NP_071372;AT132_HUMAN;NP_071372.1 "A249V,A674T,A746T,E865K,F182L,G158R,G49S,G504R,G533R,G877R,I946F,L1059R,L1108M,L437V,P389L,R294Q,R415Q,R451Q,R460Q,R762W,R783Q,R991Q,T12M,T981M,V391I,V578G,V698A,V776I,V776L,W608G" "1,0,0,0,1,0,0,1,1,1,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 23400 1480 hgmd1680;sw5898;dbsnp23554;hgmd0613_547 NP_001003841;S6A19_HUMAN;NP_001003841.1 "D173N,D335N,D371N,E501K,I15M,L242P,L547F,P230S,R14Q,R240Q,R328C,R57C,V252I,V393M,V536M,V551M" "1,0,0,1,0,1,0,0,0,1,1,1,0,0,0,0" 340024 4746 hgmd1681;pmd887.1;pmd889.2;sw2594;evn651;dbsnp7272;dbsnp7273;hgmd0613_597 NP_001034;SC6A2_HUMAN;NP_001034.1;NP_001165972.1 "A369P,A457P,A589S,F528C,G260V,G478S,I549T,I606V,K463R,N15S,N292T,N375S,N7K,P21A,R121Q,S396F,T19A,T283M,T283R,T580M,T99I,V245I,V247I,V356L,V449I,V69I,Y548H" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6530 4822 hgmd1682;pmd888.2;sw4060;sws487;evn929;dbsnp22892;hgmd0613_602 NP_001035;SC6A3_HUMAN;NP_001035.1 "A559V,D200N,E602G,H547Q,I137V,L167F,L368Q,L42F,M11I,P194S,P395L,Q373R,Q509H,R237Q,S198G,S201G,S202L,S202W,V24M,V300I,V464I,V471I" "1,0,1,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 6531 4822 hgmd1683;sw2877;spmut1879;evn450;dbsnp8538 NP_001036;SC6A4_HUMAN;NP_001036.1 "D193N,D216G,F465L,G56A,I425L,K201N,K605N,L222P,L550V,R241L,R241Q,R464W,T433M,T66A,V457I,V488M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6532 4795 hgmd1684;sw11820;sws1346;evn312;dbsnp1717;hgmd0613_1170 NP_004202;SC6A5_HUMAN;NP_004202.2 "A132G,A162G,C724S,D463N,F124S,G102S,G110A,G390V,K457N,L306V,M154V,N116S,N509S,Q184R,R709C,R766C,R769H,S106P,S510R,S753L,T140N,T167K,T425M,T465M,V354L,V751A,W482C,Y491C,Y499F" "0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,1,0,0,0,1,0,0,0,1,1,0" 9152 3230 hgmd1685;sw3310;evn147;dbsnp30085;hgmd0613_1402 NP_005620;SC6A8_HUMAN;NP_005620.1 "C337W,C491W,E188Q,G132V,G36S,G381R,G424D,G87R,M560V,P37T,P390L,P554L,Q58H,R46H,T164S,V227L,V38A" "1,1,0,1,0,1,1,1,1,0,1,1,0,0,0,0,0" 6535 4740 hgmd1686;pmd1084.2;pmd4602.2;sw3959;dbsnp11045;dbsnp11046;dbsnp11047;hgmd0613_1674 NP_055085;BAT1_HUMAN;NP_001229965.1;NP_001119807.1;NP_055085.1 "A126T,A158T,A182T,A224V,A331V,A354T,A382T,A70V,G105R,G195R,G259R,G63R,I187F,I241T,I44T,N271S,P108S,P261L,P482S,P52L,R333W,S379R,T123M,T399R,V142A,V170M,V176I,V330M,W230R,W69L,Y457H" "1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,0,1,1,0,1,1,1,0" 11136 6882 hgmd1687;sw441;spmut1361;evn888;dbsnp9729;hgmd0613_1172 NP_004243;NHRF1_HUMAN;NP_004243.1 "D301V,E225K,E68A,I219M,I245T,R153Q,S173F,V128A" "0,1,1,0,0,1,0,0" 9368 9470 hgmd1688;sw12076;dbsnp3767;hgmd0613_1510 NP_006437;SO1B1_HUMAN;NP_006437.3 "C162Y,D241N,D462G,D655G,E156G,E667G,F400L,F73L,G100S,G488A,I222V,I245V,I353T,I499V,L193R,L643F,N130D,N151S,N432D,P155T,R152K,R152T,R253Q,T345M,T441N,V174A,V359A,V82A,Y173C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10599 4062 hgmd1689;sw9297;evn662;dbsnp5099;hgmd0613_2219 NP_443142;SLIK1_HUMAN;NP_443142.1 "A323V,G308S,G344S,I319V,L335P,L463F,L552M,L581P,M357I,P334A,S330A,S338G,S520A,S586P,T418S,V414I,V414M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114798 4105 hgmd168;sw3482;evn531;dbsnp14836;hgmd0613_475 NP_000693;AT1A2_HUMAN;NP_000693.1 "A16T,A446T,E492K,G114S,G715R,I107L,I170V,I204N,I204T,I438V,K567R,K680R,L764P,M176I,M176T,M649V,M731T,M892T,N681D,Q116L,Q554H,R279Q,R421Q,R51H,R689Q,S672P,S836P,T378N,T891S,V132I,V69I,W887R,Y113F,Y9N" "0,0,1,0,1,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,1,0,0,1,0,0,0,1,0,0" 477 1921 hgmd1690;sw3670;evn250;dbsnp27937;hgmd0613_1940 NP_065160;SLUR1_HUMAN;NP_065160.1 "C77R,C99Y,R71H,V68M,W15R,Y61F" "1,1,1,0,1,0" 57152 14603 hgmd1691;sw3972;sws475;spmut1964;evn982;dbsnp6962;hgmd0613_1426 NP_005893;SMAD3_HUMAN;NP_005893.1 "A112V,E239K,G25V,G402R,I170V,M106V,N217S,R279K,R287W,S425F,T144A,T261I,V60A" "1,1,0,0,0,0,0,1,1,0,0,1,0" 4088 7256 hgmd1692;sw4507;sws562;spmut1965;evn337;dbsnp10491;hgmd0613_1357 NP_005350;SMAD4_HUMAN;NP_005350.1 "A212T,A226P,D493H,E330G,G230A,G352R,G386D,I500M,I500T,I500V,I525V,M157L,M294V,N13S,R189C,R361C,R361H,S154P,S173P,T174N,W101G" "0,0,1,1,0,1,1,1,1,1,0,0,0,1,0,1,1,0,0,0,0" 4089 5806 hgmd1693;sw11044;sws1237;evn937;dbsnp18389;dbsnp18390;hgmd0613_1662 NP_054859;SMAL1_HUMAN;NP_001120679.1;NP_054859.2 "A22G,A43T,A468P,D424V,D649N,G321D,H752Q,I207F,I548N,I576T,K647Q,K647T,L322H,N862S,P301A,R114H,R387H,R586W,R644Q,R644W,R645C,R764Q,R820H,S315R,S415G,S579L,T399M,T40I,T705I,T742M,V512M,V827M,Y206D" "0,0,1,0,0,0,0,0,1,0,1,1,0,0,0,0,0,1,0,1,1,1,1,0,0,1,0,0,1,0,0,0,0" 50485 2313 hgmd1694;sw4336;hgmd0613_1014 NP_003064;SNF5_HUMAN R377H 1 6598 8886 hgmd1695;pmd1427.1;pmd1428.2;pmd1429.3;sw4723;spmut1969;evn491;dbsnp30268;hgmd0613_1488 NP_006297;SMC1A_HUMAN;NP_006297.2 "A1072S,C781F,D961E,E141K,E493A,F1122L,F133V,I784T,I969T,L124F,R1049Q,R1123W,R196H,R398Q,R496C,R496H,R693G,R711Q,R711W,R790Q,R816G,S971N,T28P,Y1085C" "0,1,0,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1" 8243 1322 hgmd1696;pmd711.2;pmd712.3;pmd713.4;pmd1085.2;pmd1086.4;pmd1087.1;pmd1088.2;sw5013;dbsnp24007;hgmd0613_286;hgmd0613_1820 NP_000335;SMN_HUMAN;NP_000335.1 "A111G,A2G,C289S,D30N,D44V,E134K,G275S,G279C,G279V,G95R,I116F,P245L,Q136E,S262G,S262I,T274I,Y272C" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 6606 10996 hgmd1698;dbsnp1622;hgmd0613_445 NP_000534;NP_000534.3 "A487V,E517V,G492S,G508R,G530A,M33I,P187S,R113C,R150C,R230H,R240Q,R291H,R542Q,T324I,T588M,V114M,V301I,V318E,V36A,V512M,V559I" "1,1,0,1,0,0,0,0,0,1,0,1,0,0,0,1,0,0,0,0,0" 6609 4781 hgmd1699;spmut2022;evn12;hgmd0613_1239 NP_004586;SPSY_HUMAN;NP_004586.2 "C206Y,D242N,R334H" "0,0,0" 6611 9274 hgmd169;sw2134;evn477;dbsnp12467;hgmd0613_2332 NP_689509;AT1A3_HUMAN;NP_689509.1 "D801Y,D9G,D9S,E277K,F780L,G16A,G871S,I274T,I758S,N14S,R463C,S509A,T613M,V885I" "1,0,0,1,1,0,0,1,1,0,0,0,1,0" 478 1921 hgmd16;pmd245.1;pmd862.1;dbsnp329;hgmd0613_324 NP_000383;MRP2_HUMAN;NP_000383.1 "A1450P,A1450S,A1450T,C1515Y,C737R,D333G,D620E,G921S,I1009T,I1036T,I1080T,I1359L,I670T,I982V,K495E,K534N,K57Q,L849R,M1499V,M246L,M246V,N1063S,N1216K,N760S,N807S,N807T,P1291L,Q1019H,Q1357H,R1079Q,R1100C,R1174H,R1181L,R1181Q,R255W,R353H,R915C,S281N,S789C,S789F,S938N,T1477M,T336M,T486I,V1167A,V417I,V469L,V803A,W1003L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1244 780 hgmd1700;sw729;dbsnp27828;hgmd0613_1012 NP_003059;SNAI2_HUMAN;NP_003059.1 "D119E,P31T,T234I" "1,0,0" 6591 11056 hgmd1701;pmd464.1;pmd465.1;pmd466.1;pmd1273.1;pmd1274.2;pmd1275.1;pmd4208.1;sw3072;spmut2086;dbsnp22620;dbsnp22621;dbsnp22622;hgmd0613_287 NP_000336;SYUA_HUMAN;NP_001139527.1;NP_001139526.1;NP_000336.1 "A30P,A53T,E46K,P117T" "1,1,1,0" 6622 14078 hgmd1702;sw12062;evn370;dbsnp23756 NP_005451;SNCAP_HUMAN;NP_005451.2 "A714T,A787T,D580E,E235G,E409K,E706Q,E709Q,E819V,F263C,F73L,G114D,G121S,G554D,L391P,M711V,N203S,P294A,P771L,Q779P,R303W,R606Q,R806H,S222L,T383N,T690N,V44A,V483A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9627 2499 hgmd1703;evn356;hgmd0613_538 NP_001001502;NP_001001502.1 S72F 0 6620 14078 hgmd1704;sw1055;sws117;evn84;dbsnp19492;hgmd0613_1656 NP_054733;U520_HUMAN;NP_054733.2 "A2101G,A341P,A635T,C516S,D193G,D2025E,E1032G,E767D,F1148L,G1162W,G162V,G1978A,I1161L,I1425V,I1426L,I2004M,I541V,I612V,I613V,I81M,I889V,K1134R,K1141N,K1145I,K1146R,K155R,K2080I,K358R,L140S,L175V,M347V,M387V,N1147H,N1449H,N1655S,N995S,P128A,R1090L,R1130P,R1133L,R154Q,R490H,R681C,R681H,S1087L,S1371N,S1607T,S377C,T2000S,T2099A,T495M,T747S,T934A,V1389I,V683L,Y689C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0,0,1,1" 23020 364 hgmd1705;sw4486;dbsnp16643;hgmd0613_1016 NP_003089;SNTA1_HUMAN;NP_003089.1 "A257G,A263S,A390V,C226Y,K276N,L364F,R106Q,R207W,S256C,T147N" "1,0,1,0,0,0,0,0,0,0" 6640 6557 hgmd1706;sw407;spmut1998;evn1120;dbsnp8781;hgmd0613_1134 NP_003946;SOCS3_HUMAN;NP_003946.3 "E98A,E98V,F136L,H125Y,P139S,T188S" "0,0,1,0,0,0" 9021 12432 hgmd1707;pmd93.1;pmd371.1;pmd525.1;pmd668.1;pmd669.1;pmd670.1;pmd1089.1;pmd1120.1;pmd1495.1;pmd1599.11;pmd1600.12;pmd1601.13;pmd1602.14;pmd1603.15;pmd1604.16;pmd1605.1;pmd1619.1;pmd1693.1;pmd1694.2;pmd1695.1;pmd1742.1;pmd1954.1;pmd1955.1;pmd1956.1;pmd2242.1;pmd2243.1;pmd2393.2;pmd2394.3;pmd2652.1;pmd2653.1;pmd3246.1;pmd3247.1;pmd3248.1;pmd3249.1;pmd3250.1;pmd3251.1;pmd3253.1;pmd3254.1;pmd3503.1;pmd3504.1;pmd3505.1;pmd3506.1;pmd3507.1;pmd3508.1;pmd3621.1;pmd3635.1;pmd3648.1;pmd3649.2;pmd3770.1;pmd3774.1;pmd3827.1;pmd3828.1;pmd3829.1;pmd3901.1;pmd3925.1;pmd4014.1;pmd4015.1;pmd4016.1;pmd4034.1;pmd4324.2;pmd4325.1;pmd4326.1;pmd4518.1;pmd4519.1;pmd4533.1;pmd4534.1;sw1441;hgmd0613_375 NP_000445;SODC_HUMAN "A146T,A5S,A5T,A5V,A90T,A90V,A96G,C147R,C7F,D102G,D102N,D125G,D125V,D126H,D77Y,D91A,D91V,E101G,E101K,E22G,E22K,E50K,F21C,F46C,G109V,G115A,G13R,G148R,G17S,G38R,G42D,G42S,G73S,G86R,G94A,G94C,G94D,G94R,G94V,H44R,H47R,H49Q,H49R,H81A,I105F,I113M,I113T,I114T,I150T,I152T,L107V,L127S,L145F,L145S,L39R,L39V,L68P,L68R,L85F,L85V,L9Q,L9V,N140K,N66S,N87S,Q23L,R116G,S106L,S135N,T55R,V149G,V149I,V15G,V15M,V88A,V8E,V98M" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 6647 13825 hgmd1708;pmd1112.2;sw4227;evn816;dbsnp18891;hgmd0613_1404 NP_005624;SOS1_HUMAN;NP_005624.2 "A708T,C441Y,D1200E,D309Y,E108K,E424K,E433K,E846K,E954D,F623I,G434K,G482R,H1320R,I1198L,I185V,I252T,I437T,I733F,I784T,I94V,K170E,L1140I,L490R,L550P,L569V,L790S,L791I,M269R,M269T,M422V,N1011S,N1117S,N41S,N508S,P102R,P112R,P25S,P478L,P478R,P894R,Q477R,Q977R,R1131K,R310H,R497Q,R552G,R552K,R552M,R552S,R552T,S548R,S853N,T1257A,T266K,T378A,T37A,T549K,V250A,W432R,W729L,Y337C,Y702H,Y709D" "1,1,0,1,1,1,1,1,0,1,1,1,0,0,0,1,1,1,1,0,1,1,1,1,0,0,0,1,1,1,0,0,0,0,1,1,0,1,1,1,1,0,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,0" 6654 1101 hgmd1709;sw3739;evn93;dbsnp17819;hgmd0613_1557 NP_008872;SOX10_HUMAN;NP_008872.1 "A157V,A184T,A188S,A202T,G321R,G416S,K150N,L145P,M112I,M263L,N131H,P175A,P175L,P175R,Q174P,R106W,R161H,S135T,S311G,T200A,V92L" "1,0,0,0,1,0,1,1,1,0,1,1,1,1,1,1,1,1,0,0,0" 6663 6478 hgmd170;sw498;evn363;dbsnp8235;hgmd0613_2387 NP_775293;AT2A1_HUMAN;NP_775293.1 "A43V,A846T,D245N,D650N,L38P,N280K,N280S,P540L,P540S,P789L,P820T,P995A,R403Q,R476H,R637Q,R667Q,T457M,V594M" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 487 1890 hgmd1710;sw3020;hgmd0613_1886 NP_060889;SOX18_HUMAN "A104P,W95R" "1,1" 54345 8904 hgmd1711;evn1152;hgmd0613_1017 NP_003097;NP_003097.1 "G241S,S25G,T211S,T26A" "0,0,0,0" 6657 10466 hgmd1712;pmd1170.2;pmd1171.4;sw3331;evn730;dbsnp9617;hgmd0613_288 NP_000337;SOX9_HUMAN;NP_000337.1 "A119V,A158T,A76E,E190Q,F112L,F112S,F154L,G305A,H165Q,H165Y,K173E,M113T,M113V,P108L,P170L,P170R,P362Q,R152P,S330G,W143R" "1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,0,1,0,1" 6662 6478 hgmd1713;sw11251;sws1258;spmut2007;dbsnp19472;hgmd0613_1717 NP_055761;SPAST_HUMAN;NP_055761.2 "A409T,A485V,A551Y,A556V,C448Y,D441G,D441N,D470V,D493G,D542G,D555N,D584H,E356K,E454K,E464A,E512D,F381C,G370R,G382R,G559D,H289Y,I328L,I344K,I406V,I580T,K388R,L195V,L314S,L360V,L378Q,L378R,L380H,L391P,L422F,L426F,L426V,L492F,L534P,L534V,M390V,N386K,N386S,N579H,P238T,P293L,P361L,P365S,P435L,P45Q,P489L,P97T,Q347K,R364T,R424G,R459G,R460C,R460L,R460S,R498G,R499C,R499H,R503L,R503W,R514G,R562G,R562P,R562Q,S229G,S362C,S399L,S407I,S407R,S410R,S413L,S436F,S436P,S445N,S44L,T463A,T550I,T614I,T615I,V162I,V201D,V423L,V482L,W607C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 6683 4956 hgmd1714;sw9789;dbsnp20209;hgmd0613_2150 NP_114161;SPT16_HUMAN;NP_114161.3 "A509V,E78K,E90G,G147E,H18R,L246F,M110L,M133V,M144L,M286V,M526T,N50S,Q467H,Q564R,R283Q,R569S,S44T,V423M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 83893 5558 hgmd1715;sw11118;dbsnp5716;hgmd0613_1885 NP_060888;SPAT7_HUMAN;NP_060888.2 "C308Y,D2N,F119L,G324E,H413R,I332T,I371T,I541T,K497R,L122F,Q95R,R272Q,R272W,R356H,R534Q,S165N,S218L,V74M" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 55812 5144 hgmd1716;sw9042;dbsnp6677;hgmd0613_2104 NP_079413;SPTCS_HUMAN;NP_079413.3 "A2142T,A695T,D126G,D1421N,D2253E,D566E,E1023G,E1707D,E370K,E958D,F1349I,F1395L,F1604L,F2378L,F463S,I1146V,I391V,I450V,I692T,K1013E,K1273R,K1641N,K2419R,K255E,L2357F,L452F,N110D,N2075S,N278I,N278S,R1563G,R2211H,R2293W,S148N,S164L,V2107I,V922I,W1455C,Y396C,Y886H" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80208 260 hgmd1717;sw11686;dbsnp7300;hgmd0613_1018 NP_003110;SPG7_HUMAN;NP_003110.1 "A2T,A510V,A603T,A759T,D650H,E193G,E428D,F284P,F545L,F623C,G349S,G56A,G56V,G694A,I219T,N730D,Q82E,R294H,R486Q,R688Q,S635L,S645T,S692T,T432A,T503A,V405I,W583C" "0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1" 6687 3247 hgmd1718;sw1474;dbsnp23707;hgmd0613_1019 NP_003113;ISK1_HUMAN;NP_003113.2 "K66N,L14P,N34S,P55S,R67H" "1,1,1,0,1" 6690 14827 hgmd1719;sw663;dbsnp11884;hgmd0613_1983 NP_066925;SPIT2_HUMAN;NP_066925.1 "G239R,P111S,R182H,R233C,R233H,V200L,Y163C" "0,0,0,0,0,0,1" 10653 11859 hgmd171;evn411;dbsnp4319;hgmd0613_805 NP_001672;NP_001672.1 "A713S,D644E,E11D,E373D,E877D,G720S,G722S,G749R,H576N,I392V,I544V,L32F,N403K,N568S,N661G,N661S,R371K,S538A,S538P,S649A,S865T,T376S,T648M,T648S,T982M,V963L" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 488 1890 hgmd1720;sw2970;spmut2019;dbsnp19545;hgmd0613_1020 NP_003115;SPRE_HUMAN;NP_003115.1 "K261R,P163L,R150G,Y259C" "0,1,1,0" 6697 11667 hgmd1721;sw6732;dbsnp7129;hgmd0613_2343 NP_689807;SPRE1_HUMAN;NP_689807.1 "I234M,P315L,V309A,V42I,V44D,W31C" "0,0,0,0,1,1" 161742 7688 hgmd1722;sw1564;dbsnp13147;hgmd0613_1021 NP_003117;SPTA1_HUMAN;NP_003117.2 "A125T,A1998P,A2025G,A2178V,A259T,A524V,A766T,A957V,A970D,C1568R,D152N,D1971N,D2182H,D2243N,E11D,E227K,G1497E,G151D,G46V,H469P,I2265T,I24S,I809V,K1693Q,K2368N,K48R,L1485F,L1858V,L207P,L260P,L49F,N1836S,N265D,N394S,Q2146R,Q471P,R1330I,R1793Q,R2016C,R28C,R28H,R28L,R28S,R34W,R41W,R45S,R45T,R557C,R568H,R701H,S109F,S109Y,S1163A,S261P,T360S,T853R,V1698A,V31A,V870M,Y363C,Y653C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,1,0,0,0,1,0,0,1,1,1,0,0,0,0,1,0,0,0,1,1,1,1,1,1,1,1,0,0,0,0,0,0,1,0,0,0,1,0,0,0" 6708 267 hgmd1723;sw2045;evn1062;dbsnp5427;hgmd0613_289 NP_000338;SPTB1_HUMAN;NP_000338.3 "A1006T,A1334V,A1884V,A2023V,A2053P,A343T,A589T,A705V,D1567H,D204N,D536N,D542N,D882N,E1144G,E1557G,E435Q,E525K,E811K,G1112R,G1408R,G291S,G702D,H1374R,I1952T,I2081T,L2025R,L2122M,N1151D,N1151H,N239D,N9T,P1227S,P14S,Q165E,Q713H,R1403Q,R1423Q,R1570Q,R1684C,R1737W,R173H,R1972Q,R1981H,R328C,R508H,R611H,R687H,R814Q,R827Q,R840H,S1024L,S1917F,S2019P,S439N,S613I,S722L,T1897A,T258M,T316I,T526I,T59I,V1725M,V195I,V350M,V886L,V961I,W2024R,W202R" "0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1" 6710 271 hgmd1724;dbsnp1388;hgmd0613_1558 NP_008877;NP_008877.1 "A1446V,A1545V,A1641T,A2266V,A486T,C1843G,E1241G,E1458D,E1802K,E835K,G1272C,G1894E,H1229R,L1473S,M136V,N1224S,N197S,Q323R,R1055Q,R1250Q,R1483C,R1552H,R1700H,R1880H,R1994W,R2251W,R2370H,R553W,R77Q,R800Q,R819C,S2344R,S31L,V1034A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6712 271 hgmd1725;sw567;sws55;evn263;dbsnp29220;hgmd0613_1504 NP_006406;SPTC1_HUMAN;NP_006406.1 "A104T,A352V,C133W,C133Y,D150E,E454A,F40L,G371R,G387A,R151L,S331F,T93I,V144D,V471I" "0,1,1,1,0,0,0,0,1,0,1,0,1,0" 10558 7138 hgmd1726;sw4515;spmut2025;evn237;dbsnp23625;hgmd0613_1128 NP_003891;SQSTM_HUMAN;NP_003891.1 "A117V,C27F,D329G,E274D,E274Q,E319K,G411S,G425R,H181L,H181P,K238E,M404T,M404V,P228L,P387L,P392L,R110C,R321C,S283G,S370P,S399P,V153I" "0,0,0,0,0,0,1,1,0,0,0,1,1,0,1,1,0,0,0,0,1,0" 8878 7760 hgmd1727;sw3055;spmut2026;dbsnp8931;hgmd0613_1164 NP_004167;SRBP1_HUMAN;NP_004167.3 "A1008P,A1046V,A309T,K108N,L930R,N306S,P111L,P155L,P197L,Q182E,R371C,R610Q,R638H,R746H,R812Q,S823C,S823G,S823T,S834L,T1000A,V238I,V298I,V417M,V580M" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6720 1492 hgmd1728;spmut2001;evn297;dbsnp25922;hgmd0613_1022 NP_003121;SORCN_HUMAN;NP_003121.1 "F112L,R176W,T89K" "1,0,0" 6717 12584 hgmd1729;sw875;evn246;dbsnp30449;hgmd0613_1691 NP_055282;SRPX2_HUMAN;NP_055282.1 "A320T,D429N,F12S,F338I,H154D,K75R,L11F,L344I,N327S,P270L,Q47R,R190H,R246Q,R458Q,T287S,V382M,Y72S" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1" 27286 7290 hgmd172;dbsnp8786 NP_005164;NP_005164.2 "A745D,D426G,D458N,D800E,D887N,E892K,E892Q,I150T,M941I,P500S,P505L,Q869H,R251C,R258Q,R502C,R572K,R656C,R674H,V633M,V648M,V890M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,1,0" 489 1890 hgmd1730;pmd1172.1;pmd2340.1;pmd3599.1;pmd3600.1;sw4158;spmut2033;hgmd0613_1023 NP_003131;SRY_HUMAN "A113T,F109S,F67V,G95E,G95R,I68T,I90M,K106I,L101H,M64I,M64R,M78T,N87Y,P108R,P125L,P131R,R133W,R62G,R76P,R76S,S18N,S3L,S91G,V60A,V60L,Y127C,Y127F" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 6736 12873 hgmd1731;spmut2035;dbsnp4234;hgmd0613_1913 NP_061857;SSH1_HUMAN;NP_061857.3 "D485V,G60A,L715V,N672S,P1022L,P484S,P899R,R790S,R96C,S754F,S994R,T678I,V969I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54434 1899 hgmd1732;pmd727.3;sw2974;evn422;dbsnp7315;dbsnp7316;hgmd0613_615 NP_001044;SSR5_HUMAN;NP_001044.1;NP_001166031.1 "A14T,A354E,A52V,E279K,G357R,G37R,I340S,L251S,L48M,P109S,P335L,R229K,R234C,R240W,R339K,R341Q,R39Q,R39W,T333M,T9M,V135M,V267I,W105R" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 6755 8198 hgmd1733;sw12014;spmut2039;evn537;dbsnp2240;hgmd0613_2010 NP_068813;ST14_HUMAN;NP_068813.1 "A247T,E170K,E321R,G491S,G577R,G827R,I152V,I314V,L445V,M285I,P786L,R171H,R381S,R428C,R85H,S338R,T277M,T350A" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 6768 2861 hgmd1734;pmd1115.1;sw3401;evn652;dbsnp27963;hgmd0613_290 NP_000340;STAR_HUMAN;NP_000340.2 "A203D,A218V,E169G,E169K,G145R,L275P,M225T,R121W,R182L,R217T,R274H,R37L,R37Q,R55W,S32G" "0,1,1,1,0,1,1,0,1,1,0,0,0,0,0" 6770 11183 hgmd1735;sw3159;sws362;spmut2053;evn961;dbsnp18966;hgmd0613_1590 NP_009330;STAT1_HUMAN;NP_009330.1 "A267V,A531T,C174R,D165G,D165H,D447E,D627Y,E320Q,I265V,I30T,K201N,K286I,L600P,L706S,M202I,M202V,P27T,Q167P,Q271P,Q463H,R241Q,R274Q,R274W,S107N,T288A,T489N,T749A,V266I,Y170N,Y666F" "1,0,1,1,1,0,0,1,0,0,1,1,1,1,1,1,0,0,1,1,0,1,1,0,1,0,0,1,1,0" 6772 3440 hgmd1736;pmd1095.1;pmd1108.1;sw3110;evn206;dbsnp8792;hgmd0613_2289 NP_644805;STAT3_HUMAN;NP_644805.1 "A227T,E311D,E742D,E760D,F384S,F561Y,F621V,H437Y,I498V,M143I,N130S,N192S,N485S,N739S,P695Q,Q288H,Q32K,R382L,R382Q,R382W,R423Q,R609S,S194A,S611N,S727F,S754T,T389I,T622I,V195A,V507F,V637L,V637M,Y657C" "0,0,0,0,1,0,1,1,0,0,0,0,0,0,0,0,0,1,1,1,1,0,0,1,0,0,1,1,0,0,1,1,1" 6774 3440 hgmd1737;sw3531;spmut2047;evn293;dbsnp8991;hgmd0613_1630 NP_036580;STA5B_HUMAN;NP_036580.2 "A130V,A371D,A510V,A630P,F646S,G720S,P736S,Q143H,Q52L,R353H,S731L,V46I" "0,0,0,1,1,0,0,0,0,0,0,0" 6777 3258 hgmd1738;sw4937;sws632;spmut2059;evn452;dbsnp12266;hgmd0613_376 NP_000446;STK11_HUMAN;NP_000446.1 "A206V,D194N,D348G,D350H,E16G,F157S,G163D,G215D,H174R,H379Q,I177N,L245R,L67P,N380S,P314H,P315S,P324L,Q170P,R211W,R297K,R383S,R405K,R42Q,S232P,T230P,W239C" "0,1,0,0,1,1,1,1,1,0,1,1,1,0,1,1,1,1,0,1,0,0,0,1,1,1" 6794 7888 hgmd1739;sw6478;dbsnp199;dbsnp201;hgmd0613_2347 NP_689922;STOX1_HUMAN;NP_689922.3;NP_001123633.1 "A863T,E385K,E852G,G477R,L582F,M250I,N825I,Q845R,R18P,T188N,T395A" "0,0,0,0,1,0,1,0,1,0,0" 219736 2146 hgmd173;evn478;dbsnp21226;hgmd0613_806 NP_001674;NP_001674.2 "A1150T,A141T,A206S,A919T,D572N,E599D,E651D,G130S,I494V,I816M,I966V,L272V,N595S,R328K,R601C,S332N,T487A,T989A,V474I,V532M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 491 1258 hgmd1740;sw9782;dbsnp6422;dbsnp6423;dbsnp6424;hgmd0613_2025 NP_071764;STRA6_HUMAN;NP_071764.3;NP_001136089.1;NP_001136090.1 "A123P,A591T,E32K,G217E,G304K,G31S,G339S,G631R,G635S,L517F,M527I,P293L,P49S,P90L,Q438R,R276C,R408Q,R638P,R655C,S46R,S58L,T301I,T321P,T644M,T657M,V316M" "0,0,0,1,1,0,0,0,0,0,0,1,0,1,1,0,0,1,1,0,0,0,1,1,0,0" 64220 4031 hgmd1741;pmd1096.1;sw1863;evn773;dbsnp30508;hgmd0613_292 NP_000342;STS_HUMAN;NP_000342.2 "C446Y,D114N,D418G,E20K,F469L,G380A,G380R,G61V,H444R,K297N,K409N,N157S,Q560P,R274W,R386S,R454H,R522W,R98H,S341L,S582R,T335I,T516S,V307I,W372R,W372S,Y257F" "1,0,0,0,0,0,1,0,1,0,0,0,1,0,0,1,0,0,1,0,0,0,0,1,1,0" 412 5360 hgmd1742;evn192;dbsnp29160;hgmd0613_1026 NP_003156;NP_003156.1 "E320D,M602V,S400T,S469N,V451I,V84I" "0,0,0,0,0,0" 6812 5096 hgmd1743;sw4938;evn195;dbsnp10747;hgmd0613_1560 NP_008880;STXB2_HUMAN;NP_008880.2 "A433V,A582T,D402N,G17R,I526V,L209P,L280W,N494K,P477L,R122H,R292H,R405Q,R405W,R459W,R529P,R555G,T345M,T56I,V205I,V487M" "0,0,0,0,0,1,0,0,1,0,1,1,1,0,0,0,0,0,0,0" 6813 5096 hgmd1744;sw11203;evn56;dbsnp5085;hgmd0613_1118 NP_003841;SUCB1_HUMAN;NP_003841.1 "A103P,D367N,E206G,E359A,G118R,I86V,L37W,L90I,M271V,R284C,S199T,S79L,V13M" "0,0,0,0,1,0,0,0,0,1,0,0,0" 8803 7340 hgmd1745;sw3608;evn1024;dbsnp19668;hgmd0613_1117 NP_003840;SUCA_HUMAN;NP_003840.2 "A126T,D53E,E163G,G79D,G85A,I183T,I237T,I253V,M14L,P170R,P34L,Q48K,R161C,V100L" "0,0,0,0,1,0,0,0,1,1,0,0,0,0" 8802 9756 hgmd1746;sw7701;spmut2074;dbsnp20451;hgmd0613_2442 NP_877437;SUMF1_HUMAN;NP_877437.2 "A177P,A279V,A348P,C218Y,C336R,G222R,H190Y,L20F,L20R,N241S,N259I,P202L,P266L,R224W,R345C,R349Q,R349W,S155P,S63N,W179S,Y292C" "1,1,1,1,1,0,0,1,0,0,1,0,1,1,1,1,1,1,0,1,0" 285362 9105 hgmd1747;sw3527;evn658;dbsnp4469;dbsnp4470;dbsnp4471;hgmd0613_377 NP_000447;SUOX_HUMAN;NP_000447.2;NP_001027559.1;NP_001027558.1 "A265D,A499P,A78G,E410D,E436K,G362S,G453D,G530D,G99R,H83N,I258L,K379R,P210L,Q13K,Q396R,R192W,R217Q,R255K,R268Q,R366H,R40H,R433W,R489C,R76S,S323L,S427Y,T32I,W450R" "1,0,0,0,0,1,0,1,0,0,1,1,0,0,1,0,1,0,1,1,0,0,0,0,0,1,0,1" 6821 5909 hgmd1748;sw4878;sws623;evn60;dbsnp29095;hgmd0613_1027 NP_003163;SURF1_HUMAN;NP_003163.1 "A56G,D202H,G124E,G124R,I246T,L7S,P215A,R295C,V182I,V4G,V71L,Y117S,Y274D" "0,0,1,1,1,0,0,0,0,0,0,0,1" 6834 10849 hgmd1749;evn280;dbsnp24317;hgmd0613_2198 NP_149062;NP_149062.1 "A1304T,A1304V,A1615T,A1708S,A1717D,A1817V,A2802V,A2920S,A3157T,A3937D,A5862T,A6220T,A6441S,A7268D,A7287S,A7756G,A8097S,A8205G,C3662Y,C3950R,C6704R,D1032V,D1737E,D2047H,D3184G,D3319N,D388N,D4077H,D4566N,D4632N,D5023E,D5034N,D679Y,D7613V,D7844N,D8223G,D8400N,D8536A,E1006K,E1186A,E2658K,E2913K,E3626D,E3989D,E4132K,E4651K,E4651Q,E5218G,E5684K,E6339K,E7158K,E733G,E7834K,E7925K,F1238L,F1376L,F2319L,F2645S,F309I,F4931S,F7231V,G1311A,G1540W,G2304R,G3404D,G3410S,G3766S,G4060C,G4792E,G7567D,G8252A,G8689S,H1943R,H2237R,H2765Y,H471R,H5299Q,H7261P,H8170Q,I1500V,I1912V,I2052M,I2323V,I2393V,I2763V,I2786S,I2894L,I3342V,I4002V,I6502T,I6870V,I7524V,I911V,K1684I,K2164R,K3714N,K3859T,K4050N,K4050R,K4997E,K5550Q,K6930R,K7055R,L2679P,L2853S,L3057V,L3473V,L4684F,L4944M,L5997F,L6262F,L7597V,L8186P,L8247F,L8571P,L8693M,L892V,M2289R,M3779V,M3832I,M3956V,M4626I,M5046T,M5306L,M6053V,M6495I,M6712V,M747I,N1922D,N2340T,N4546H,N6432S,N7415K,N8090H,P3986L,P4306R,P5216S,P8316L,Q1716K,Q1768R,Q1807H,Q2751K,Q2978E,Q3246E,Q3616H,Q4819H,Q5119E,Q5249H,Q662R,Q6880H,Q7161H,Q901H,R1098W,R1351Q,R1395W,R2007K,R2799H,R3038G,R3209H,R3499H,R3540H,R3908H,R4152C,R4579Q,R4670C,R4763Q,R5442K,R5546Q,R5591C,R5591S,R5709Q,R5885H,R6506Q,R6657C,R6746W,R6979Q,R7086H,R7701Q,R8046W,R8248Q,R82L,R82Q,R850C,R8687Q,R968Q,S1686N,S1793N,S2169C,S2446R,S2485C,S296G,S3188N,S3262L,S3353Y,S4134L,S4525T,S4963R,S5872P,S5991L,S6692L,S7027G,S7063N,S7435G,S8281G,S8334G,S8F,T1440M,T1522I,T1553A,T1593K,T198I,T2181I,T2212S,T2310M,T2314I,T2366N,T2666N,T2794M,T2860A,T3304M,T3433I,T3725A,T3814A,T4046M,T5204A,T5355M,T5757R,T6593I,T8639I,V1042A,V1070A,V2729I,V3226I,V325L,V3348A,V3603M,V3726A,V4118M,V4363M,V438I,V4475I,V5004M,V5042I,V61I,V6644M,V7683I,V7816M,W333R,Y4747N,Y7670C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23345 2 hgmd174;sw3997;evn626;dbsnp20607;dbsnp20612;hgmd0613_1686 NP_055197;AT2C1_HUMAN;NP_001186108.1;NP_055197.2 "A205T,A304T,A450T,A601G,C344Y,C411R,C490F,D209A,D263A,D742Y,E252K,E33D,F383S,G309C,G645R,G789R,I387N,I580V,I852M,L318P,L341P,L539V,L541F,L584P,M422I,M641R,P201L,P744R,Q120K,R760C,R842K,S127Y,S298R,S52N,S595P,T22I,T570I,T709M,V231I,V578I" "0,1,0,0,1,1,1,0,0,1,0,0,0,1,1,1,0,1,0,1,1,0,0,1,0,1,1,1,0,0,0,0,0,0,0,0,1,1,0,0" 27032 2225 hgmd1751;sw751;evn391;dbsnp17804;hgmd0613_1256 NP_004702;SNG1_HUMAN;NP_004702.2 "D191H,D222G,G211A,G211V,G55R,T19A,T220A,V121L,V166M,V74M" "0,1,0,0,0,0,0,0,0,0" 9145 12268 hgmd1752;sw540;evn986;dbsnp24829;hgmd0613_1028 NP_003172;BRAC_HUMAN;NP_003172.1 "A338V,E402K,G177D,G356S,I424T,N369S,P433S,S275G,T183P,T273M,T281A,V358I,V367M" "1,0,0,0,0,0,0,0,0,0,0,0,0" 6862 7621 hgmd1753;evn855;dbsnp4553;hgmd0613_1640 NP_037383;NP_037383.1 "Q45R,S99P" "0,0" 6866 14389 hgmd1754;sw2748;evn274;dbsnp21942;hgmd0613_616 NP_001050;NK3R_HUMAN;NP_001050.1 "A449S,A449T,I249V,K286R,N395T,R441C,T349P,V95L" "0,0,0,0,0,0,0,0" 6870 7291 hgmd1755;sw1909;evn209;dbsnp12923;hgmd0613_922 NP_002344;TACD2_HUMAN;NP_002344.2 "A57V,D146E,D173A,D216E,E147D,E175K,G241S,I297V,M62V,R300Q,S269F,Y184C" "0,0,0,0,0,0,0,0,0,0,0,1" 4070 10312 hgmd1756;evn994;dbsnp1322;hgmd0613_1536 NP_006746;NP_006746.1 "A268D,A268T,A67T,E155D,I66T,K19Q,K321M,K321R,K321T,L61V,P208S" "0,0,0,0,0,0,0,0,0,0,0" 6888 9961 hgmd1757;sw4418;evn908;dbsnp14171;hgmd0613_1596 NP_031401;TADBP_HUMAN;NP_031401.1 "A315T,A382P,A382T,A90V,D169G,G287R,G287S,G290A,G294A,G294V,G295R,G295S,G298S,G335D,G348C,G357R,I222L,M337V,N267S,N355S,N390D,N390S,P280S,Q331K,Q343R,Q344H,R361S,R361T,S332N,S379C,S379P,S393L" "1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,0,1,1,0,1,1,1,1,1,1" 23435 8287 hgmd1758;sw6611;dbsnp14365 NP_619642;TS1R1_HUMAN;NP_619642.2 "A110V,A348V,A689V,C4Y,D751N,H126N,H373N,I127T,I237L,I483T,K347E,L163V,L404P,N191S,P554L,P626L,Q12H,Q181E,Q368E,R180Q,R261C,R507G,R507Q,R603C,R603H,R652H,S356C,S653L,S765G,T139M,T470A,T584S,V596A,Y807C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80835 2947 hgmd1759;sw11013;dbsnp3861 NP_076406;TA2R9_HUMAN;NP_076406.1 "A233T,D150E,F67L,G218E,I266T,K170Q,K179E,L238V,L294M,L304F,M130L,N127K,S104T,V146I,V189F,V300M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50835 10602 hgmd175;sw11876;evn540;dbsnp4033;hgmd0613_1632 NP_036595;VPP2_HUMAN;NP_036595.2 "A205V,A795V,A813V,E257K,E258G,E332K,I521V,I707V,K172R,K374R,L125M,M357L,N477I,N850S,P153T,P589L,R141H,R141L,R339H,R340W,R685Q,S639N,V420L,V44I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23545 2854 hgmd1760;pmd4182.2;sw2335;spmut179;evn344;dbsnp8233;hgmd0613_294 NP_000344;ATTY_HUMAN;NP_000344.1 "A407T,G362V,M5V,N349S,N70D,P15S,R433Q,R433W,T393M,V310A,Y203S" "0,1,0,0,0,0,1,1,0,0,0" 6898 7498 hgmd1761;sw5012;dbsnp30489;hgmd0613_88 NP_000107;TAZ_HUMAN;NP_000107.1 "C118R,F128S,G197R,R94S" "1,1,1,1" 6901 11040 hgmd1762;dbsnp17733;hgmd0613_2240 NP_542378;NP_542378.1 "E266K,N397H" "0,0" 6899 6737 hgmd1763;sw890;evn178;dbsnp15327;hgmd0613_1320 NP_005140;TBX19_HUMAN;NP_005140.1 "A430V,I346V,L6V,S128F,S367T,S4G,T182M,T96M,V254A,V318L" "0,0,0,1,0,0,0,0,0,0" 9095 7621 hgmd1764;sw11590;evn390;dbsnp27036;hgmd0613_625 NP_001071121;TBX20_HUMAN;NP_001071121.1 "D176A,I152M,M200T,N157S,R311P,S71A,S71G,V171G,Y309N" "0,1,0,0,0,0,0,0,0" 57057 7639 hgmd1765;sw11868;sws1349;dbsnp30222;dbsnp30223;hgmd0613_671 NP_001103348;TBX22_HUMAN;NP_058650.1;NP_001103348.1 "E187K,G118C,L214P,M121V,N264Y,P183L,T260M,Y475F" "0,1,1,1,1,1,1,0" 50945 6289 hgmd1766;evn940;dbsnp4605;hgmd0613_1438 NP_005987;NP_005987.3 "A337T,A337V,H365R,I234V,M684V,R403Q,S14T,S376T,T442A,T466S,V438G" "0,0,0,0,0,0,0,0,0,0,0" 6926 3673 hgmd1767;sw3762;evn669;dbsnp9145;hgmd0613_1892 NP_060958;TBX4_HUMAN;NP_060958.2 "A314V,A35V,A489T,A59T,G248V,G295S,G496S,G6A,G6S,K133N,P282S,Q499P,Q531R,R483Q,S405C" "0,0,0,0,1,0,0,0,0,0,0,0,1,0,0" 9496 5910 hgmd1768;pmd1123.2;pmd1146.1;sw9475;evn69;dbsnp4596;dbsnp4597;hgmd0613_157 NP_000183;TBX5_HUMAN;NP_000183.2;NP_852259.1 "A366G,D111Y,G80R,I106V,I54T,P23H,P359L,Q49K,R237Q,R237W,R279Q,S276N,S357G,S372L,S40P,V263M,V412I,V493M" "0,1,1,1,1,0,0,1,1,1,0,0,0,0,0,1,0,0" 6910 5910 hgmd1769;sw2494;spmut2089;evn1140;dbsnp10736;hgmd0613_617 NP_001051;TA2R_HUMAN;NP_001051.1 "A160T,C68S,E94V,L210P,R60L,T285A,T286M,V176E,V217I,V80E" "0,0,0,0,1,0,0,0,0,0" 6915 8447 hgmd176;sw10479;dbsnp26385;dbsnp26386;dbsnp26387;hgmd0613_1952 NP_065683;VPP4_HUMAN;NP_065683.2;NP_570856.2;NP_570855.2 "A630T,D679Y,D709H,F554L,G175D,G820R,H604Q,I173V,I557F,I684T,L345I,M350V,M580I,N439I,P252R,P510T,P524L,Q135H,R449H,R667W,R807Q,S500G,T140M,T769M,V2A,V719I,V776I" "0,1,0,0,1,1,0,0,0,0,0,0,0,0,0,0,1,0,1,0,1,0,0,0,0,0,0" 50617 2854 hgmd1770;dbsnp25880;dbsnp25881;hgmd0613_618 NP_001052;NP_001052.2;NP_001124438.1 "A113V,A428T,A430T,D208E,E388K,E420K,E450K,G390V,G474W,G476S,I332T,K258E,K500T,L163I,L357V,N246S,P199A,P209R,P512L,Q317K,Q417E,R261G,R267W,R410K,R425C,R466Q,R502Q,R61H,T18M,T451N,V295M,W31R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6916 5417 hgmd1771;sw569;dbsnp9738;hgmd0613_1094 NP_003664;TELT_HUMAN;NP_003664.1 "A118V,E105Q,E132Q,L74H,P90L,R153H,R70W,R87Q,S11L,S64L,T137I" "0,0,1,0,1,1,1,1,0,0,1" 8557 13586 hgmd1772;evn1005;dbsnp25233;dbsnp25234 NP_938206;NP_003197.2;NP_938206.1 "D138N,M155L,M25V,S162N,S7N,V32A" "0,0,0,0,0,0" 6943 12842 hgmd1773;evn559;dbsnp10528;hgmd0613_649 NP_001077431;NP_001077431.1 "A207T,A239G,A315V,E15K,L468V,M450I,N90S,R114K,S17N,S252N,S264T,S54G,T208A,T453A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6925 3427 hgmd1774;sw4509;evn541;dbsnp2673;hgmd0613_1445 NP_006010;VPP3_HUMAN;NP_006010.2 "A141P,A417T,A778V,A826T,D517N,D669G,E722K,G405R,I721N,K83E,M403I,P161L,P572L,P775R,R444L,R56W,T236M,T496M,V52L,V539I,V558L" "1,1,0,0,1,0,0,1,0,0,0,0,0,1,1,0,0,0,0,0,0" 10312 2854 hgmd1775;sw2429;dbsnp2166 NP_001053;TCO1_HUMAN;NP_001053.2 "D115N,D120N,D370Y,I334V,K233E,L95F,N240S,N259S,P327R,R35H,S218I,T244A,V309I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6947 7889 hgmd1777;sw2118;spmut2119;dbsnp20418;hgmd0613_1030 NP_003203;TDGF1_HUMAN;NP_003203.1 "D109H,Q65R,R111G,V22A,Y43D" "0,0,0,0,0" 6997 13202 hgmd1778;pmd1219.1;sw10842;spmut2252;evn955;dbsnp6005;dbsnp6006;hgmd0613_1881 NP_060789;TYDP1_HUMAN;NP_001008744.1;NP_060789.2 "A132P,A134T,A389T,D187G,E95D,F219L,H290Y,H493R,K103R,K221T,K417E,L34P,L439F,P101L,P566L,Q104R,Q52R,R304Q,R448Q,R448W,T569A,V401I,Y46C" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55775 5041 hgmd1779;sw2717;spmut2122;hgmd0613_2007 NP_068780;TEAD1_HUMAN Y421H 1 7003 7580 hgmd177;sw2219;spmut2345;evn175;dbsnp19005;hgmd0613_807 NP_001683;VATB1_HUMAN;NP_001683.2 "A272V,E161K,G123V,G14S,G316E,G364S,L81P,M174R,M1T,P346R,R124W,R157C,R38C,R465H,S16G,T275P,T30I,V173I" "0,0,1,0,1,1,1,1,0,1,1,1,0,1,0,1,0,0" 525 6422 hgmd1780;sw1013;sws112;evn746;dbsnp1423;hgmd0613_1365 NP_005413;TECTA_HUMAN;NP_005413.2 "A1098V,A495T,C1036Y,C1057S,C1509G,C1517R,C1619S,C1837G,C1837R,C1898R,D1136H,D197N,D612N,D682E,E118D,E229K,F211S,G1335E,G1824D,G2152A,G947V,H1407Q,H1867R,I1542V,I1574V,I2009T,K708R,K708T,L1820F,L943M,M1656L,M2128I,N465K,N687K,N886S,P1248L,P1791R,P479L,Q1299R,Q19R,Q234R,R1033W,R1186W,R1284H,R1388H,R1890C,R1947C,R2021H,R268Q,R371G,R399K,R586Q,R959Q,S1064N,S1584T,S1671L,S1724N,S1878R,S2100T,S362C,S362I,S373T,S501F,S803L,T1004A,T1866M,T2153M,T431S,T562M,T815M,T880A,V1102I,V1456L,V317E,V932A,V96I,Y1870C,Y1946H" "1,0,1,1,1,1,1,1,1,1,1,1,0,0,0,0,1,0,1,0,0,0,1,0,0,1,0,0,1,0,0,0,1,0,1,1,1,0,0,0,0,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,1,1,0,0,0,1,0,0,1,0" 7007 356 hgmd1781;dbsnp28541;hgmd0613_379 NP_000450;NP_000450.2 "A226V,A724T,A925T,G742R,I148T,I769V,K294N,L634F,N438S,N449S,N452D,P417A,R849W,T391I,T693I,V486I,V600L,V78A,Y897S" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1" 7010 1643 hgmd1782;pmd1149.1;sw442;spmut2128;dbsnp23772;hgmd0613_2464 NP_937983;TERT_HUMAN;NP_937983.2 "A1062T,A202T,A279T,D516G,D516V,F1127L,G1109E,G260D,G682D,H412Y,K570N,K902N,L55Q,P65A,P721R,P785L,R522K,R631Q,R811C,R865H,R901W,R979W,S948R,T1110M,T726M,V1090M,V299M,V694M,V741M,V791I,V867M,Y772C" "0,1,0,0,0,1,0,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,0,1,1,1,0,1,0,0,1,1" 7015 1617 hgmd1783;pmd422.1;pmd423.1;pmd424.1;pmd1187.1;pmd1188.1;pmd1189.1;pmd2149.1;pmd2881.1;pmd3180.1;pmd3181.1;pmd3609.1;pmd4562.1;pmd4579.2;dbsnp20088;hgmd0613_619 NP_001054;TRFE_HUMAN;NP_001054.1 "A76V,D296G,E592K,G562V,P110L,R343W,R42L,S381N,S40N,S55R,S688T,V270D" "0,0,0,0,0,0,0,0,0,0,0,0" 7018 3966 hgmd1784;pmd26.2;pmd419.1;pmd420.2;pmd4560.1;pmd4561.2;sw1712;spmut105;evn692;hgmd0613_1031 NP_003211;AP2A_HUMAN;NP_003211.1 "A139G,E158D,G262E,L249P,N425S,R254G,R255G,S148P" "0,0,1,1,0,1,1,0" 7020 7399 hgmd1785;sw8518;evn567;dbsnp24869;hgmd0613_1032 NP_003212;AP2B_HUMAN;NP_003212.2 "A275D,A333S,A372S,D453A,N435T,P73R,R236C,R236S,R285Q,R300C,S449G,T438S,T451P,V224I" "1,0,0,0,0,1,1,1,1,1,0,0,0,0" 7021 7399 hgmd1786;sw11636;dbsnp26735;hgmd0613_1033 NP_003218;TFR2_HUMAN;NP_003218.2 "D127E,D230E,F280L,G415S,G760R,I238M,I797V,M172K,M588L,Q690P,R455Q,R468H,R752H,V22I,V505M" "0,0,0,0,0,0,0,1,0,1,0,1,0,1,0" 7036 3203 hgmd1787;sw1511;dbsnp27345;hgmd0613_1034 NP_003226;THYG_HUMAN;NP_003226.4 "A1936T,A2234D,A2296T,A2417T,A2422T,C1264R,C183Y,C1897Y,C1996S,D1312G,D1513Y,D1729A,D1731G,D1838N,D2091E,D2091G,E442G,E79K,F1338L,F2526L,G1057A,G1195R,G2061R,G2319S,G2375R,G525R,G634R,G653D,G67S,G767R,G77S,G815R,H1043Y,I1059T,I109V,I1333M,I1580F,I1708V,I1790M,I1931V,I2189V,I2216V,I713V,I994V,L1063M,L2129V,L2299M,L2469P,M1028V,M190T,M1974T,N2616I,N2616S,N511S,P118L,P1216L,P1278S,P1463H,P1494L,P1707S,P181H,P2149L,P2202R,P777L,Q1353K,Q135H,Q2064R,Q2148H,Q2170R,Q515E,Q830E,Q870H,Q870P,R1066H,R1250L,R1283W,R1328H,R1398C,R1398H,R152H,R1530Q,R1661H,R170H,R1792H,R1952Q,R1979W,R1999W,R2242H,R2336Q,R2379C,R2386H,R243Q,R2455H,R2489H,R2530Q,R2585W,R2676W,R283Q,R320C,R854Q,R88W,R988H,R988P,R995C,S1222L,S1450R,S2132L,S2344N,S2716F,S523P,S604D,S734A,T1233A,T1498M,T1620M,T1621K,T1740K,T2273M,T248I,T2570M,T601M,T621M,T728M,T741M,V1105I,V129I,V1495A,V1618M,V1738I,V2472L,V2556I,V696A,V845I,W1437R,W2501R,Y1165C" "0,1,0,0,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7038 181 hgmd1788;evn786;dbsnp11216;hgmd0613_470 NP_000651;NP_000651.3 "F217L,G5R,P10L,R228K,R25P,T241I,T263I" "0,0,0,0,0,0,0" 7040 8792 hgmd1789;sw4889;dbsnp23579;hgmd0613_296 NP_000349;BGH3_HUMAN;NP_000349.1 "A359D,A546D,A546T,A659S,D123H,F540S,G594V,G623D,H572R,H626P,H626R,I200F,L269F,L509R,L518P,L518R,L527R,L569R,N544S,N622H,P501T,P551Q,R124C,R124H,R124L,R124S,R496G,R548Q,R555Q,R555W,R666S,T538R,V113I,V505D,V505I,V539D,V631D" "0,1,1,0,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,0,1,1" 7045 4240 hgmd178;sw4144;evn341;dbsnp29766;hgmd0613_35 NP_000043;ATP7A_HUMAN;NP_000043.3 "A1007V,A1325V,A1362V,A629P,A988T,C1000R,D1044G,D1198N,D1201Y,D1305A,E1350K,G1015D,G1019D,G1118D,G1255R,G1300E,G1302R,G1302V,G1315R,G1369R,G727R,G860V,G876E,G876R,I1318V,I1345F,I1464V,I189V,I506V,I669T,I75L,I763V,K1282E,L1006P,L1100P,L1173F,L706R,L81F,L873R,M1311V,N1197D,N1200D,N1304K,N1304S,N1336D,N294Y,N486T,P1386S,P457L,Q924R,R1208I,R1455Q,R590G,R652Q,R703H,R844H,S1003P,S1344R,S1397F,S164N,S4R,S637L,T1090A,T258I,T348A,T447M,T472I,T994I,V1038I,V1401L,V371I,V767L,Y608C" "1,1,1,1,0,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,0,0,0,0,0,1,1,1,0,1,0,1,0,0,0,1,1,0,0,0,1,0,1,0,0,0,0,0,1,0,1,1,0,0,1,0,0,0,0,0,1,0,0,0,0,0" 538 825 hgmd1790;pmd1125.1;pmd1127.1;pmd3623.1;pmd3744.1;pmd3745.1;pmd3746.2;pmd3747.1;pmd3748.1;pmd3788.1;pmd3830.1;sw3051;spmut2145;evn365;dbsnp29237;hgmd0613_1240 NP_004603;TGFR1_HUMAN;NP_004603.1 "A20T,C347S,C347Y,C41Y,D266Y,D351G,D400G,G52R,I139V,I72L,K232E,M318R,N267H,N45S,P83L,R11Q,R487P,R487Q,R487W,S241L,T200I,T375I,V153I,V5A,Y291C" "0,0,0,1,1,1,1,1,0,0,1,1,1,1,1,0,1,1,1,1,1,1,0,0,0" 7046 6095 hgmd1791;pmd1126.2;pmd3832.3;pmd4536.1;sw3064;sws353;spmut2146;evn533;dbsnp20091;hgmd0613_1037 NP_003233;TGFR2_HUMAN;NP_003233.4 "A217P,A355P,C514R,D446N,E526Q,G357W,G509V,H377R,I37M,I510F,I510S,L308P,L452M,M36V,M373I,M457K,N435S,R193W,R224H,R348C,R403H,R460C,R460H,R528C,R528H,R537C,S449F,S553T,T132A,T200S,V191I,V387M,V439A,V447A,W521R,Y336N" "0,1,1,1,1,1,1,1,0,1,1,1,1,0,0,1,1,0,0,0,0,1,1,1,1,1,1,1,0,0,0,1,0,1,1,1" 7048 5252 hgmd1792;sw4120;evn1064;dbsnp13486;hgmd0613_1038 NP_003234;TGBR3_HUMAN;NP_003234.2 "A296S,A635T,A735T,D333N,E131K,E443Q,F351I,G73D,G765R,H155R,I295T,I678V,I790F,K284R,K490R,M312T,P777S,Q226E,Q630E,R423Q,S14N,S15F,S224F,S99P,T19A,V480I,V695I,W163L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 7049 2892 hgmd1793;evn598;dbsnp10403;dbsnp10408;hgmd0613_2388 NP_775300;NP_003235.1;NP_775300.1 "H76Q,K206N,M214V,N197S,P163L,P163R,P163S,V194M" "0,0,0,0,0,0,0,0" 7050 8559 hgmd1794;sw2544;evn700;dbsnp5615;hgmd0613_297 NP_000350;TGM1_HUMAN;NP_000350.1 "A588T,C53S,D102V,D132N,D137N,D430V,D490G,D510N,D551E,D802V,E285K,E520G,F293V,F401V,G144E,G144R,G218S,G278R,G33R,G382R,G392D,G473S,G791R,G94D,I243S,I304F,I601T,K630E,K653E,L205Q,L366P,N289T,N320S,N330H,P249L,R106Q,R121C,R126C,R126H,R142C,R142H,R142P,R143C,R143H,R225H,R225P,R264Q,R264W,R286Q,R307G,R307Q,R307W,R315C,R315H,R315L,R323Q,R323W,R36S,R389H,R389P,R396H,R396L,R396S,R607C,R687C,R687H,R753H,R764C,R89W,S122L,S160C,S272P,S331P,S358R,S42Y,S533G,S755L,S755T,S755W,S82F,T21A,V209F,V359M,V372I,V379L,V383M,V669I,W342R,Y134C,Y276N,Y365D,Y544C" "0,1,1,0,0,1,1,0,0,0,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,0,0,0,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,0,1,0,0,1,1,1,1,1,0,0,0,0,0,0,1,1,0,1,1,0,1,1,1,1,1" 7051 3103 hgmd1795;pmd2882.1;pmd2883.1;pmd2884.1;pmd2885.1;sw2508;sws278;dbsnp16239;hgmd0613_1241 NP_004604;TGM2_HUMAN;NP_004604.2 "A110T,D671N,E366K,E669K,I331N,M330R,M330T,P536S,Q324R,Q481H,R214H,R263H,R271C,R271S,R377H,R433Q,R436W,R76H,V542F,V642L,V92M" "0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7052 4190 hgmd1796;sw712;evn200;dbsnp6753;hgmd0613_2487 NP_963925;TGM5_HUMAN;NP_963925.2 "A352G,C105Y,E607A,G113C,K608E,N241K,N95S,P67S,Q132H,Q521R,Q679R,R20Q,R274H,R482G,S15C,S49G,S544R,S86R,T109M,T42N,V284I,V370I,V504M,V657A" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9333 3874 hgmd1797;dbsnp1296;hgmd0613_298 NP_000351;NP_000351.2 "A6T,E27D,M30I,V151A" "0,0,0,0" 7054 6166 hgmd1798;sw10882;spmut2150;evn1112;dbsnp27619;hgmd0613_1870 NP_060575;THAP1_HUMAN;NP_060575.1 "A166T,A39T,A7D,C170R,C54F,C83R,D141N,D17G,D192N,E174G,E91D,F132S,F81L,G197D,G9C,H150P,H23P,H57N,I149T,I80V,K16E,K24E,K70N,K89R,L180S,L32H,L72R,M143V,N12K,N136K,N136S,N75I,P26L,P26R,P30R,Q187K,R13H,R169Q,R29P,R29Q,S21C,S21T,S6F,S6P,T59I,Y137C,Y8C" "1,1,1,1,1,1,0,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 55145 12670 hgmd1799;pmd4550.1;sw1762;dbsnp16118;hgmd0613_299 NP_000352;TRBM_HUMAN;NP_000352.1 "A162P,A236G,A43T,A473V,D34E,D486Y,D53G,G79A,P368S,P495S,P501L,R403K,S28I,V454A,V81L" "0,1,1,0,1,1,1,0,0,1,1,1,0,0,1" 7056 5479 hgmd179;sw3017;dbsnp4933;hgmd0613_36 NP_000044;ATP7B_HUMAN;NP_000044.2 "A1003T,A1003V,A1018V,A1063V,A1065P,A1168S,A1183G,A1183T,A1278V,A1328T,A1358S,A14D,A486S,A604P,A756G,A861T,A874V,A971V,C1104F,C1104Y,C1375S,C703Y,C985Y,D1164N,D1222N,D1222V,D1222Y,D1267A,D1267V,D1271N,D1279G,D1279Y,D1296N,D1407E,D642H,D765G,D765N,D918E,D918N,E1064A,E1064K,E1068G,E1173G,E1173K,F1094L,G1000R,G1035V,G1061E,G1089E,G1089V,G1099S,G1101R,G1111D,G1149A,G1176E,G1176R,G1186C,G1186S,G1213V,G1221E,G1266R,G1266V,G1287S,G1341D,G1341R,G1341S,G1341V,G1355C,G1355S,G451S,G591D,G626A,G691R,G710A,G710R,G710S,G710V,G711E,G711R,G711W,G85V,G869R,G869V,G875R,G875V,G891V,G943C,G943D,G943S,G96D,G988R,G998D,H1069Q,H639Y,I1102T,I1148T,I1230V,I1336T,I390V,I747F,I857T,K1248N,K832R,L1043P,L1083F,L1255I,L1305P,L1327V,L1368P,L1373P,L1373R,L466V,L492S,L549P,L641S,L708P,L776P,L776V,L795F,L795R,M1169T,M1169V,M1359I,M645R,M665I,M665V,M769I,M769R,M769V,M996T,N1270S,N1332D,N41S,N565S,P1052L,P1098R,P1245S,P1273L,P1352S,P1379S,P690L,P760L,P768H,P840L,P992H,P992L,Q1004P,Q1095P,Q1142H,Q1256R,Q898R,R1038K,R1041P,R1041W,R1151H,R1228T,R1322P,R616Q,R616W,R723G,R778G,R778L,R778Q,R778W,R919G,R919W,R952K,R969Q,S1310R,S1363F,S406A,S653Y,S657R,S693C,S721P,S744P,S921N,S975Y,T1029I,T1031I,T1033A,T1033S,T1143N,T1220M,T1232P,T1434M,T737R,T766M,T766R,T933P,T935M,T974M,T991M,V1106D,V1109M,V1140A,V1146M,V1216M,V1239F,V1239G,V1252I,V1262F,V1297I,V290L,V446L,V456L,V536A,V864I,V890M,V949G,V995A,W1153C,W1153R,W1353R,Y1331S,Y532H,Y713C,Y741C" "1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,0,1,1,1,1,0,0,0,1,0,1,1,1,1,1,1,1,1,1,1" 540 1060 hgmd17;dbsnp7543;hgmd0613_718 NP_001162;NP_001162.4 "A547T,D736G,E709K,E903Q,G1327E,G868R,L1097I,L955I,Q1022E,Q1347H,R595W,R60Q,R769K,R887C,R899H,S1198G,T1084N,V683L,V773M" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 368 817 hgmd1800;sw2015;evn1056;dbsnp20805;dbsnp20806;dbsnp20807;dbsnp20808;hgmd0613_380 NP_000452;THB_HUMAN;NP_000452.2;NP_001239563.1;NP_001121648.1;NP_001121649.1 "A234T,A268G,A317T,A335P,C20R,C446R,D216G,E52K,F459C,G332R,G345D,G345R,G345S,G345V,G347E,I431M,I67V,K18Q,K342I,K443E,L341P,L346F,M442V,N331D,N4S,N51K,P447T,P453H,P453L,P453S,P453T,Q340H,R243W,R316H,R320C,R320H,R338W,R429Q,R438H,T12P,T337I,T426I,T61A,T62S,V348E" "1,1,1,1,0,1,0,0,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,1" 7068 6849 hgmd1801;dbsnp11712;hgmd0613_1493 NP_006342;NP_006342.2 "E87K,G62S,I372V,K68R,N251K,P308Q,S20G,S26P,S26T,S447T,V194I" "0,0,0,0,0,1,0,0,0,0,0" 10469 7545 hgmd1802;sw784;dbsnp30475;hgmd0613_1154 NP_004076;TIM8A_HUMAN;NP_004076.1 "A61V,C66W" "0,1" 1678 14692 hgmd1803;sw3011;evn1057;dbsnp17850;hgmd0613_300 NP_000353;TIMP3_HUMAN;NP_000353.1 "D18E,D18H,F156Y,G189C,G190C,I8V,K133E,R196Q,S13I,S179C,S204C,V121M,Y191C" "0,0,0,1,1,0,0,0,0,1,1,0,1" 7078 12709 hgmd1804;sw9648;spmut2161;dbsnp5961;hgmd0613_656 NP_001092744;TINF2_HUMAN;NP_001092744.1 "A43T,G237D,K280E,P241S,R282H,R282S" "0,0,1,0,1,1" 26277 7567 hgmd1805;evn252;dbsnp2086;hgmd0613_2326 NP_683708;NP_683708.1 "A171S,A74T,A9P,C134R,D96N,R13W,S55N,T43A,V197I" "0,0,0,0,0,0,0,0,0" 114609 12219 hgmd1806;sw11287;evn805;dbsnp28491;hgmd0613_1270 NP_004808;ZO2_HUMAN;NP_004808.2 "A126P,A909V,D482E,G355R,G50E,H852Y,K1113R,K759N,K822N,L937P,M668I,M907T,N162S,N829D,P132R,Q128K,Q422R,Q879R,Q981H,R255Q,R293W,R493K,S1010F,S1159R,S711P,S713G,T1131P,T364M,T626S,T62M,V329I,V48A,V695L,V710A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 9414 1355 hgmd1807;sw279;evn663;dbsnp8356;hgmd0613_1242 NP_004605;KITM_HUMAN;NP_004605.4 "A139T,D101N,E207V,H121N,I212N,I53M,M228V,R183W,R192K,S27L,T108M,T64M,V174M,W4R" "0,0,0,1,1,1,0,1,1,0,1,1,0,0" 7084 11579 hgmd1808;sw771;sws88;evn505;dbsnp21953;hgmd0613_1633 NP_036596;TLL1_HUMAN;NP_036596.3 "A959T,D764E,E685D,G23R,G4E,I545V,I629V,L428V,M182L,N71S,P8L,Q914H,R467H,R583C,R928Q,S497G,S817G,S817N,S980A,T153M,T352I,T5K,T82M,T958A,V161I,V238A" "0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 7092 2047 hgmd1809;sw603;spmut2169;dbsnp22032;hgmd0613_1040 NP_003256;TLR3_HUMAN;NP_003256.1 "A185V,D280N,H319Q,K163T,L15W,L297V,L412F,L742F,N284I,P554S,R394Q,R643S,S562P,S737T,T59N,Y307D,Y764C" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 7098 2587 hgmd180;dbsnp10418;hgmd0613_1400 NP_005594;NP_005594.1 "A571T,E429A,F305I,H78Q,I349T,I393V,I577V,K203E,K814N,L1052R,M241T,N45T,R384H,R631Q,R930Q,R952Q,S580N,T1242S,Y924C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5205 1273 hgmd1810;sw8246;evn951;dbsnp28574;hgmd0613_2271 NP_619636;TMC1_HUMAN;NP_619636.2 "A232S,D308E,D47E,D572N,E16K,E81K,I102M,I102V,I117M,K65E,M486T,M654V,N247S,R141W,R158H,R759G,S2P,V28E,V710I,Y715F" "0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 117531 2580 hgmd1811;sw972;evn1149;hgmd0613_1853 NP_060319;TM127_HUMAN;NP_001180233.1 "A22S,A22T,A3T,A7S,D82E,E218D,G19A,G20S,I56L,L23V,Q157L,S17N,V90M" "0,0,0,0,0,0,0,0,0,0,0,0,1" 55654 12161 hgmd1812;dbsnp2333 NP_057583;NP_057583.2 R86T 0 51259 13954 hgmd1813;sw9679;evn45;dbsnp20438;hgmd0613_2061 NP_077310;TMM43_HUMAN;NP_077310.1 "A318V,A366T,A57T,D162N,E142K,G381S,K168N,L369F,M179T,M41V,R266Q,R28W,S358L,Y233C" "0,0,0,0,0,0,0,0,0,0,0,0,1,0" 79188 8574 hgmd1814;sw5450;evn278;dbsnp27612;hgmd0613_2368 NP_714915;MKS3_HUMAN;NP_714915.3 "A241G,A36V,C615R,D261N,E655K,F590S,F637L,F942C,G218A,G545E,G821R,G821S,H782R,I604V,I833T,K99N,L349S,L437V,L966P,M252T,M257V,N242T,P130R,P358L,P476S,P485S,P721S,P82R,P82S,Q376E,Q376P,Q841P,R172Q,R440Q,R441C,R608H,R820S,S245F,S320C,S504Y,S728G,T360A,T372K,V13A,W290L,W296C,Y513C,Y54C,Y567C" "0,0,1,0,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,0,1,1,1,0,1,0,1,0,1,1,1,1,0" 91147 2122 hgmd1815;sw3157;evn757;dbsnp4223;hgmd0613_1041 NP_003267;LAP2A_HUMAN;NP_003267.1 "A309P,A577V,A646S,D486H,I203T,K416E,K478N,L238R,N117S,P426L,Q599E,Q602R,R274K,S159F,S293A,S444C,S491A,T229I,T317S,V437L,V446L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7112 4124 hgmd1816;sw3769;spmut2174;dbsnp16952;hgmd0613_2049 NP_076927;TMPS3_HUMAN;NP_076927.1 "A138E,A138T,A426T,C194F,C407R,D103G,D131N,D173N,G111S,I253V,I54T,M319I,P28H,P404L,P6L,R109W,R216L,V181M,V437I,V53I,W251C,Y239H" "1,0,1,1,1,1,0,0,0,0,0,0,0,1,0,1,1,0,0,0,1,0" 64699 7499 hgmd1817;sw10240;dbsnp2212;hgmd0613_2123 NP_110397;TMPS5_HUMAN;NP_110397.2 "A233G,A249V,A317S,C259R,D31V,F369L,L164F,P337S,R46Q,V125M,W347C" "0,0,1,0,1,0,0,0,0,0,0" 80975 7450 hgmd1818;sw7008;sws808;spmut2175;dbsnp17404;hgmd0613_2363 NP_705837;TMPS6_HUMAN;NP_705837.1 "A80V,C510S,D521N,D552N,E145K,E262K,G291S,G442R,G572S,G763D,G801S,I212T,K253E,P329T,P507L,P555S,R112C,R130C,R130H,R162C,R271Q,R446W,R554W,R610H,R685H,R711L,R774C,R97C,S108F,S288L,S304L,S455W,T129I,T264M,T494I,V736A,V795I,Y141C" "1,1,1,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,1" 164656 3133 hgmd1819;sw12091;dbsnp10395;hgmd0613_1116 NP_003830;TNR11_HUMAN;NP_003830.1 "A192V,A244S,A507T,C175R,C472S,D427N,G284S,G53R,H141Y,K237E,K240E,M540V,R129C,R170G,R450W,R466H,V461M" "0,1,0,1,0,0,0,1,0,0,0,0,1,1,0,0,0" 8792 4957 hgmd181;sw7504;evn1145;dbsnp9675;hgmd0613_2318 NP_663729;ATPF2_HUMAN;NP_663729.1 "D95N,E163K,E241G,G269S,L226M,R14G,R189W,R265H,V151M,V171M,W94R" "0,0,0,0,0,0,0,0,0,0,1" 91647 11114 hgmd1820;sw319;spmut2202;evn734;dbsnp27501;hgmd0613_960 NP_002537;TR11B_HUMAN;NP_002537.3 "E33Q,F371V,I316T,L29P,N3K,Q243R,T20I,T368S,V104M,V281M" "0,0,0,0,0,0,0,0,0,0" 4982 8558 hgmd1821;sw468;sws36;dbsnp9669;hgmd0613_1631 NP_036584;TR13B_HUMAN;NP_036584.1 "A181G,C104R,C104Y,D252N,D276E,G190R,I87N,K188M,L171R,P251L,R202C,R202H,R72H,S156R" "1,1,1,0,0,0,1,0,1,0,0,1,1,0" 23495 11018 hgmd1822;pmd385.1;pmd1129.1;pmd1130.2;pmd2886.1;sw2401;evn515;dbsnp3924;hgmd0613_620 NP_001056;TNR1A_HUMAN;NP_001056.1 "C117R,C117Y,C59R,C59S,C62G,C62Y,C81F,C99S,H51Q,L283V,N270T,P305T,P75L,R121P,S115G,T406A,T79M" "1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,0,1" 7132 7482 hgmd1823;sw452;evn878;dbsnp5169;hgmd0613_1098 NP_003692;TNF11_HUMAN;NP_003692.1 "A145V,A72T,F68L,I291V,M199K,P33Q,S80L,T261A" "0,0,0,0,1,0,0,0" 8600 10467 hgmd1824;sw3888;evn315;hgmd0613_1042 NP_003271;TNNC1_HUMAN;NP_003271.1 "A8V,C84Y,D115E,D145E,E134D,G159R,I119M,I119V,L29Q" "1,1,0,1,1,1,0,0,1" 7134 13693 hgmd1825;sw3360;hgmd0613_1043 NP_003273;TNNI2_HUMAN R174Q 1 7136 12737 hgmd1826;pmd427.1;pmd1200.1;sw2400;hgmd0613_301 NP_000354;TNNI3_HUMAN "A116G,A157V,A171T,A2V,D190H,D196N,K178E,K206Q,K36Q,L144Q,N185K,P82S,R141Q,R145G,R145W,R162P,R162Q,R186Q,R192H,R204H,R79C,S166F" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1" 7137 12737 hgmd1827;evn901;dbsnp13953;hgmd0613_537 NP_001001430;NP_001001430.1 "A52E,D249N,E195K,E47G,I4T,K253R,T38I" "0,0,0,0,0,1,0" 7139 10907 hgmd1828;evn899;dbsnp3173;hgmd0613_1537 NP_006748;NP_006748.1 "G192S,I212T" "0,0" 7140 10907 hgmd1829;dbsnp24309;hgmd0613_1916 NP_061978;NP_061978.6 "A1231E,A1521V,A173T,A3817T,A983T,C383R,D1814E,D2025V,D3319E,D3603N,E1629K,E1905K,E2392K,E2892K,F2228Y,G1140D,G207S,G2495S,G2518E,G2518V,G2846R,G2926E,G2989E,G3212V,G3845S,G4066S,G641C,H1161R,I2711T,K1127R,K3015R,N4055I,P1062S,P2301H,P2412L,P2731R,P2947T,P3441T,Q3804R,Q3848K,Q992H,R1064H,R1255H,R1337H,R1414Q,R1579H,R2170W,R2203K,R2305C,R2379H,R2597Q,R2704H,R2798C,R2844G,R2844S,R2997M,R3026H,R3209G,R3556H,R3806G,R4050H,R4073H,R490Q,R511H,R650H,S3573P,S921A,T1495I,T1916A,T2324K,T302A,T893M,V1482M,V203M,V2127M,V2271L,V2443M,V265G,V2885A,V2888L,V3186I,V3600M,V4056G,Y1325H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7148 66 hgmd182;sw3266;dbsnp29632;hgmd0613_398 NP_000480;ATRX_HUMAN;NP_000480.2 "A345T,C1614R,C200S,C220R,C220Y,C243F,D2035V,E1017G,E1354K,E637D,E740G,E966D,F847S,G175E,G249C,G249D,H1609R,H865Q,I2050T,I2291M,I565V,I85V,K1650N,L1645S,L192F,L409S,M216I,N1214I,N1688I,N179S,N1860S,P1713S,P190A,P190L,P190S,Q219P,Q545E,Q929E,R1742K,R2131Q,R2271G,R246C,R246L,S596P,T1621M,T844K,V1181L,V1538G,V1552F,V194I,W222S,Y1847C,Y2084H,Y2163C,Y2278F" "0,1,1,1,1,1,1,0,0,0,0,0,0,1,1,1,1,0,1,0,0,0,1,1,1,1,0,0,0,1,1,1,1,1,1,1,0,0,1,1,1,1,1,0,1,0,0,1,1,1,1,1,1,1,0" 546 242 hgmd1830;sw429;spmut2192;evn605;dbsnp28589;hgmd0613_86 NP_000104;TOR1A_HUMAN;NP_000104.1 "A163V,D264H,D67N,K275E,L34P,N68K,V7A,Y39S" "0,0,0,0,0,0,0,0" 1861 9985 hgmd1831;pmd506.1;pmd507.1;pmd836.1;pmd945.1;pmd1207.1;pmd1208.2;pmd1262.1;pmd1263.2;pmd1318.2;pmd1319.1;pmd1320.1;pmd1322.2;pmd1323.1;pmd1324.1;pmd1325.1;pmd1327.2;pmd1328.1;pmd1329.1;pmd1330.2;pmd1331.1;pmd3491.1;pmd3492.1;pmd4224.1;pmd4225.1;pmd4226.1;pmd4251.3;pmd4254.1;pmd4592.1;pmd4593.1;pmd4594.2;pmd4595.3;pmd4596.1;pmd4597.2;pmd4598.3;pmd4599.1;pmd4600.1;pmd4601.1;sw1658;sws174;spmut1439;evn386;dbsnp8740;dbsnp8741;hgmd0613_447 NP_000537;P53_HUMAN;NP_000537.3;NP_001119584.1 "A138P,A138S,A138V,A189V,C141Y,C238G,C238S,C238Y,C242R,C242Y,C275F,C275Y,C277Y,D281A,D281G,D281N,D281V,E180K,E258K,E271V,E285K,E285Q,E285V,E286A,E286K,G105C,G154V,G244D,G244V,G245C,G245D,G245R,G245S,G245V,G293W,G325V,G360A,H178D,H179Q,H179Y,H193P,H193R,H214R,H233D,H365Y,I162N,I195T,I232T,I251L,I251M,K132E,K132Q,K292I,K305M,K321E,L130F,L130H,L188P,L194F,L252P,L257Q,L265P,L344P,M133R,M133T,M237I,M246V,N131I,N210Y,N235D,N235S,P151A,P151S,P151T,P152L,P177R,P219S,P222L,P250L,P278A,P278L,P278S,P278T,P309S,P47S,P72R,P82L,Q136H,Q144L,Q167K,Q317H,R110H,R110L,R110P,R156H,R158C,R158G,R158H,R158P,R174G,R175C,R175G,R175H,R175L,R181C,R181H,R181L,R181P,R196P,R202C,R213P,R213Q,R248G,R248Q,R248W,R267Q,R267W,R273C,R273G,R273H,R273L,R273P,R273S,R280K,R282G,R282Q,R282W,R283C,R283H,R290H,R290L,R306P,R306Q,R337C,R337H,R337P,R342P,S106R,S227T,S241F,S241T,S366A,T125R,T155I,T155N,T170M,T256I,V143M,V172F,V173M,V197E,V197M,V217M,V272A,V272L,V272M,V31I,V97I,Y126C,Y126N,Y163C,Y220C,Y220S,Y234C,Y236C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" 7157 8722 hgmd1832;sw10221;sws1138;spmut1441;evn722;dbsnp21105;hgmd0613_1102 NP_003713;P63_HUMAN;NP_003713.3 "A489T,A513T,C308Y,C345R,C347S,C561G,D351G,D351H,D603H,D83G,F22Y,I549T,K232E,K233E,L553F,M665L,P279H,P348S,P456Q,P511T,Q204L,R243Q,R243W,R266Q,R318C,R318H,R318Q,R319C,R319H,R319S,R337Q,R343Q,R343W,R352G,R376H,R674H,R674L,S129L,S184L,S311N,S560A,S580P" "0,0,1,1,1,1,1,1,0,0,0,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1" 8626 4268 hgmd1833;sw7129;evn830;dbsnp3816;hgmd0613_2389 NP_775489;TPH2_HUMAN;NP_775489.2 "A328V,A57T,D479E,L36P,L36V,P206S,Q468R,R156Q,R303W,R433G,R441H,R55C,R55S,S41Y,S53R" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 121278 6835 hgmd1834;pmd3756.1;pmd3757.1;evn196;dbsnp3836;hgmd0613_303 NP_000356;TPIS_HUMAN;NP_000356.1 "A89P,D199E,P179T,S21N,V150F" "0,0,0,0,0" 7167 11174 hgmd1835;pmd1265.2;sw1894;spmut2198;evn307;hgmd0613_572 NP_001018005;TPM1_HUMAN;NP_001018005.1 "A63V,A83T,D175N,E180G,E180V,E40K,E54K,G188S,R220K,V95A" "1,0,1,1,1,1,1,0,0,1" 7168 11184 hgmd1836;sw1800;evn306;dbsnp28759;hgmd0613_1044 NP_003280;TPM2_HUMAN;NP_003280.2 "E115Q,E117A,E273K,E66D,N89I,N89T,Q147P,R91G,S179L" "0,1,0,0,0,0,1,1,0" 7169 11184 hgmd1837;evn703;dbsnp15428;hgmd0613_2329 NP_689476;NP_689476.2 "M1K,M9R" "0,1" 7170 11184 hgmd1838;sw3507;evn323;dbsnp24550;hgmd0613_304 NP_000358;TPMT_HUMAN;NP_000358.1 "A80P,A80V,F171L,L49S,Q179H,Q97R,R163C,Y180F" "1,0,0,0,0,0,0,0" 7172 12002 hgmd1839;sw1760;dbsnp18080;dbsnp18081;hgmd0613_448 NP_000538;PERT_HUMAN;NP_001193673.1;NP_000538.3 "A257S,A285V,A326T,A373S,A3V,A495T,A53P,C808R,D240N,D666E,D796Y,E378K,E716K,E799K,F718V,G493S,G516R,G533C,G590S,G771R,G85R,I447F,L458P,L529F,L793P,M706V,N307T,P135H,P499L,P70A,P906L,Q660E,R491H,R584Q,R648Q,R665W,R693W,R769W,R846W,S398T,T605S,T725P,V42I,V433M,V618M,V748M,V839I,V847A,W527C,Y453D" "0,0,1,0,0,0,1,1,1,0,1,1,0,1,0,1,0,1,1,1,0,1,1,0,0,0,1,0,1,0,0,1,1,0,1,1,1,0,0,0,0,0,0,1,0,0,1,0,1,1" 7173 2413 hgmd183;sw4578;evn16;dbsnp28975;hgmd0613_808 NP_001689;AUHM_HUMAN;NP_001689.1 "A227T,A240V,A45V,I127M,K246Q,M286T,M71V,P63Q" "0,1,0,0,0,0,0,0" 549 9919 hgmd1840;sw447;spmut2199;evn513;dbsnp1762;hgmd0613_323 NP_000382;TPP1_HUMAN;NP_000382.3 "A316D,A380T,A448V,A454E,A5D,C365R,C365Y,D328E,D87G,E343K,F481C,G284V,G34D,G389E,G473R,G482R,G501C,G77R,H97R,I287N,K428N,L436P,M345L,N286S,N414I,N504Y,P202L,P544S,Q100R,Q109R,Q278P,Q373E,Q422H,Q509R,R127Q,R175H,R185C,R185H,R206C,R206H,R259H,R266Q,R339Q,R418Q,R418W,R447H,R520H,S153P,S181F,S382R,S475L,S62L,S62T,T353P,T98M,V277M,V385D,V466M,W548R,Y209H" "0,0,1,1,0,1,1,0,0,1,1,1,0,1,1,1,1,1,0,1,1,0,0,1,0,1,1,1,1,0,1,0,1,0,1,0,0,0,1,1,0,1,1,0,0,1,0,1,0,1,1,0,1,1,0,1,1,0,1,1" 1200 5629 hgmd1841;sw1969;evn921;hgmd0613_561 NP_001011658;TPC2A_HUMAN;NP_001011658.1 "D47Y,F83S,S110A,S73L,V130D" "1,1,0,1,1" 6399 14079 hgmd1842;sw11040;dbsnp24755;hgmd0613_1910 NP_061838;TREM2_HUMAN;NP_061838.1 "D134G,D87N,E151K,F170L,H157Y,K186N,L211P,R136Q,R47H,R5Q,R62H,T223I,T96K,T96R" "1,1,0,0,0,1,0,0,0,0,0,0,0,0" 54209 12316 hgmd1843;dbsnp21224;hgmd0613_2211 NP_338599;NP_338599.1 "A247P,E266G,G227S,R164Q,R240S" "1,0,0,0,1" 11277 9225 hgmd1844;sw9378;sws1046;dbsnp16288 NP_066981;TRIB3_HUMAN;NP_066981.2 "A171V,A279T,E347K,E75K,E77K,G276R,G79A,L178P,P70T,R153H,R181C,R274H,R275H,R29C,R29H,R36Q,R58H,R67H,R81Q,S146N,S238L,V107M,V249M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57761 9471 hgmd1845;sw4393;evn2;dbsnp28786;dbsnp28787;hgmd0613_1613 NP_036342;TRI32_HUMAN;NP_001093149.1;NP_036342.2 "A168V,A338T,D487N,P130S,Q186H,R299Q,R394H,R408C,S174F,T135I,T257R,T312A,V303M" "0,0,1,1,0,1,1,0,0,0,0,0,0" 22954 4552 hgmd1846;sw1209;evn319;dbsnp8916;dbsnp8917;hgmd0613_1742 NP_056109;TRI37_HUMAN;NP_001005207.1;NP_056109.1 "A133V,A723V,A764G,A895G,C109S,D577G,D789E,E3D,E917K,G322V,L468P,L634F,L76P,N747S,P392L,P583H,Q505H,R400K,R640H,S587N,T108A,V838I" "0,0,0,0,1,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0" 4591 2257 hgmd1847;sw10175;dbsnp17383;hgmd0613_598 NP_001034230;TARA_HUMAN;NP_001034230.1 "A1863V,A1881V,A322V,A660V,A998T,D168E,D436N,E1372D,E1501G,E1793A,F1187L,G1019R,G131S,H1300R,H221Y,L2050F,N863K,P1030R,P1548L,P451L,P451S,P549L,P616A,P89A,Q702R,Q717E,R1078C,R1344Q,R159K,R1934W,R2188Q,R655Q,R745K,S1481F,S2091T,S217N,S444N,S493N,S826L,T195I,T272K,T305P,T817S,V2300A,W1377R" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11078 278 hgmd1848;sw1056;spmut1293;dbsnp17518;hgmd0613_1861 NP_060476;MTU1_HUMAN;NP_060476.2 "A160V,A369V,E148K,G149W,G14S,G272D,H210L,I99T,K91R,L4V,R25S,R398C,V279M,Y58C,Y77H" "0,0,0,0,1,1,0,0,0,0,0,0,1,0,1" 55687 8128 hgmd1849;sw11701;evn958;dbsnp2765;hgmd0613_1244 NP_004612;TRPC6_HUMAN;NP_004612.2 "A19V,A404E,A404V,A539V,D818A,E800K,E897K,H122R,H218L,N125S,N143S,N157T,P112Q,R58W,R895C,R895L,S270T,T630P,V350N,V713I" "0,0,0,0,0,0,1,0,1,0,1,0,1,0,1,1,1,0,0,0" 7225 2422 hgmd184;sws1322;spmut185;evn988;dbsnp12284;hgmd0613_567 NP_001015878;AURKC_HUMAN;NP_001015878.1 "I79V,V40I" "0,0" 6795 8518 hgmd1850;sw6691;evn591;dbsnp6500;hgmd0613_931 NP_002411;TRPM1_HUMAN;NP_002411.3 "A1349T,A695P,A695T,A717E,D3Y,D516E,E1165Q,E1281K,E1281Q,E445K,E779Q,E785G,E883G,G1584R,G429E,G534A,G534R,H1498Q,H613N,I1002F,I168N,I274V,I331S,I816V,I828M,K418Q,K589N,K830N,L1466W,L364R,L684I,L764W,L99P,M112L,M1T,M421T,M541K,M853I,M962T,N1229T,N825D,P1379T,P25L,P399T,P506T,P611H,Q1161H,R1305H,R1422C,R1422G,R1422W,R1438G,R162P,R473P,R6W,R721Q,R742L,R74C,R812S,S157F,S32N,T1291M,T1434I,T1434R,T1478M,T241K,V103L,V1395I,V1560M,V605M,Y56C,Y688S,Y72C" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1" 4308 694 hgmd1851;sw8226;spmut2223;dbsnp12249;hgmd0613_1832 NP_060106;TRPM4_HUMAN;NP_060106.2 "A101T,A432T,A43T,A606G,D561A,E330K,E7K,G582S,G737R,G844D,K914R,L1075P,L361R,L595V,M599V,P1204L,P970S,Q131H,Q293R,Q295H,Q854R,R108C,R164W,R252H,R442C,R459H,R719Q,R892C,S1143G,T286A,V264M,Y103C,Y790H" "0,1,0,0,0,0,1,1,0,1,1,1,0,0,0,0,1,1,1,0,0,0,1,0,0,0,0,0,0,0,0,0,1" 54795 1381 hgmd1852;sw9784;sws1096;spmut2224;evn594;dbsnp28665;hgmd0613_1838 NP_060132;TRPM6_HUMAN;NP_060132.3 "A167S,A923V,E1097K,E664G,F1632L,F779Y,F948L,G1288E,G171R,G296S,G318S,G484R,H1243R,H1967R,H547Y,I1106V,I381V,K1584E,L1673S,M338I,N1071D,N48T,P1439R,Q1274R,Q1663R,Q367H,Q773H,R1531C,R1761C,R1780H,R1884Q,R474Q,S141L,S90C,T1724I,T2011M,T974A,V1393I,V875F,V926I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 140803 415 hgmd1853;sw9329;sws1037;spmut2225;evn956;dbsnp6785 NP_060142;TRPM7_HUMAN;NP_060142.3 "A1033G,A1254V,D1306E,D1306G,D1839E,E259K,F949Y,G1293S,G280V,G68V,H1314L,I1133T,I1145V,I1211T,I1459L,I459T,I75V,K1188R,K574N,K599R,L1302V,L362V,M595V,M834I,N1470K,P1338R,Q1064R,R1444K,S1463F,S1660G,S406C,S921N,T1389N,T1430A,T1435I,T201S,V1337I,V1360G,V1491L,V1655I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54822 513 hgmd1854;evn808;dbsnp27744;hgmd0613_1661 NP_054831;NP_054831.2 "A869V,D216G,F110L,G479S,L161V,M532V,N222S,P397S,P637L,Q400R,R758K,S667L,T511A,T915I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7227 1173 hgmd1855;sw10473;spmut2228;evn82;dbsnp3864;hgmd0613_1991 NP_067638;TRPV4_HUMAN;NP_067638.3 "A565T,A716S,C777Y,D333G,D369N,E183K,E278K,E797K,E840K,F592L,F617L,G600W,I331F,I331T,I516V,I604M,K197R,L199F,L257V,L47P,L596P,L618P,L709M,M625I,M642L,N204S,N474S,N833S,P19S,P60L,P638L,P799A,P799L,P799R,P799S,P97R,Q857K,R232C,R269C,R269H,R315W,R316C,R316H,R446L,R594H,R616Q,R775K,R862P,S117P,S542Y,T295A,T89I,V254M,V342F,V562I,V620I,V750I,V750M,Y602C" "0,1,1,1,0,1,1,1,0,1,1,1,1,1,0,1,1,1,0,0,1,1,1,1,0,0,0,0,0,0,0,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,0,0,1,1,1,0,1,0,1,0,0,1" 59341 2761 hgmd1856;sw8547;sws959;evn203;dbsnp28516;hgmd0613_305 NP_000359;TSC1_HUMAN;NP_000359.1 "A1026T,A726E,D273Y,E51D,E577D,E809Q,F216L,G1035S,G1108S,H732Y,I473T,L191H,L72P,M224R,M318T,M322T,M646V,Q654E,R190S,R284H,R500Q,S53N,S829R,T417I,T899S" "0,1,0,1,0,0,1,0,0,1,0,1,1,1,0,0,0,1,0,0,1,0,0,1,1" 7248 1515 hgmd1857;sw3428;spmut2234;dbsnp7260;hgmd0613_449 NP_000539;TSC2_HUMAN;NP_000539.2 "A1141V,A1429S,A1712E,A210T,A357V,A536V,A583T,A607T,A614D,A862V,C227Y,C253R,C696Y,D1084E,D1295V,D1636N,D1690Y,D647N,E1307K,E1783Q,F615S,G1439D,G1787S,G1791S,G294E,G440S,H137R,H1620Y,H1773P,H593R,I1754M,I195V,I463V,I490V,K258N,K599M,L1027P,L1594M,L160V,L1744P,L1750F,L292P,L309H,L309Q,L320F,L361P,L619F,L717R,M286T,M286V,M449I,M50V,M895V,N1522S,N1643I,N1643K,N1651S,N1681K,N331K,N486I,N525S,N56S,P1227L,P1315S,P1450R,P1497R,P1675L,P1709L,P378L,P816L,P94T,R1200W,R1240W,R1743P,R1743Q,R261P,R261W,R367Q,R537C,R611Q,R611W,R905Q,R905W,S1282G,S1341R,S1498N,S1653F,S1704T,S1774T,S802R,S999N,V1144M,V1298M,V1673L,V1711M,V766M,V769E,V828M,V963M,Y1549C,Y1650C,Y407D" "0,0,1,0,0,0,0,0,1,0,1,0,1,1,1,0,1,1,0,1,1,0,0,0,1,0,1,1,1,0,0,0,0,0,1,1,1,1,0,1,1,1,0,0,0,1,0,1,0,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,0,1,1,1,1,1,0,0,0,1,1,1,1,0,0,1,1,1,0,0,0,1,0,0,0,0,1,0,1,1,1,1" 7249 555 hgmd1858;sw7729;evn90;dbsnp20922;dbsnp20923;hgmd0613_2113 NP_079541;SEN2_HUMAN;NP_001138864.1;NP_079541.1 "E271K,G196V,H106R,K130T,K152E,N144D,R126C,R126G,R126H,R187P,R41H,R41L,R41P,T203I,T338R,Y309C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 80746 7292 hgmd1859;sw9660;dbsnp12033;dbsnp12034;hgmd0613_2051 NP_076980;SEN34_HUMAN;NP_076980.2;NP_001070914.1 "L112V,R58W" "0,1" 79042 10647 hgmd185;sw1499;hgmd0613_399 NP_000481;NEU2_HUMAN "A19T,A19V,A99P,C104F,C104G,C105R,C105Y,C116G,C116R,C116W,C52R,C58F,C59R,C59Y,C92Y,C98G,C98S,E78G,G119V,G45R,G48V,G54V,G88R,G88S,G93W,G96C,G96D,G96V,L81P,P26L,P55L,P82L,R51C,R97C,R97P,S17F,S87F,V67A,Y21H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1" 551 13639 hgmd1860;sw6741;evn417;dbsnp9300;hgmd0613_2503 NP_997229;SEN54_HUMAN;NP_997229.2 "A307S,A437V,E4D,G525R,H38Q,I137L,K347N,P231L,P483A,Q361R,R109G,R21Q,R490Q,R490W,S443C,S93P,V190L,V190M" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 283989 6189 hgmd1862;sw1503;dbsnp14360;hgmd0613_450 NP_000540;TSHB_HUMAN;NP_000540.2 "T14A,V99A" "0,0" 7252 14114 hgmd1863;dbsnp5591;hgmd0613_306 NP_000360;NP_000360.2 "A538S,I155L,K751R,N744K,P68S,R534C,R609Q,S49G,T574S,V595I,V721F" "0,0,0,0,1,0,0,0,0,0,0" 7253 3483 hgmd1864;sw1379;evn208;dbsnp27233;hgmd0613_1623 NP_036470;TSN12_HUMAN;NP_036470.1 "A237P,D266E,G188R,G256E,G256V,H299R,K191R,L101H,L278P,L57S,M210R,M261T,N267T,P274H,R144Q,S27C,T290A,V123L,Y59D" "1,0,1,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0" 23554 10750 hgmd1865;sw3150;evn249;dbsnp29713;hgmd0613_1243 NP_004606;TSN7_HUMAN;NP_004606.2 "A127T,E167D,E178D,E53K,P172H,P183A,R139H,T130N,T242M" "0,0,0,0,1,0,0,0,0" 7102 11927 hgmd1866;sw10097;dbsnp24941;hgmd0613_1047 NP_003300;TSYL1_HUMAN;NP_003300.1 "A131V,A181T,A74P,A93V,E201K,F366L,G50A,I356T,P62S,Q126H,T379A,T379S,V86I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7259 7812 hgmd1867;sw3394;evn89;dbsnp27984;hgmd0613_307 NP_000361;TTPA_HUMAN;NP_000361.1 "A120T,D19E,E141K,E220Q,G246R,H101Q,R151Q,R192H,R221W,R59W,S9L,T172S,V126I" "1,0,1,0,1,1,0,1,1,1,0,0,0" 7274 11305 hgmd1868;pmd425.1;pmd1192.1;pmd2111.1;pmd2339.1;pmd3177.1;pmd3178.1;sw1587;dbsnp10392;hgmd0613_308 NP_000362;TTHY_HUMAN;NP_000362.1 "A111S,A117G,A117S,A129T,A140S,A56P,A65D,A65S,A65T,C30R,D38E,D38G,D58A,D58V,D94H,E109K,E109Q,E62D,E62G,E74G,E74K,E81G,E81K,F53C,F53I,F53L,F53V,F64L,F64S,F84L,G121S,G26S,G67A,G67E,G67V,G73E,H110N,I104N,I104S,I104T,I127M,I127V,I93V,K55N,L131M,L32P,L75P,L75Q,L78H,L78R,M33I,N144S,P122R,P44S,R124C,R124H,R54T,S43N,S70I,S72P,S97Y,T126N,T139M,T69A,T69I,T79K,T80A,V114A,V142A,V142I,V40I,V48M,V50A,V50G,V50M,V91A,W61L,Y134C,Y134H,Y136S,Y136V,Y89H,Y98F" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1" 7276 13968 hgmd1869;sw6530;evn847;dbsnp3499;hgmd0613_1441 NP_006000;TBA1A_HUMAN;NP_006000.2 "E447K,G232S,I188L,L117I,L286F,P263T,R264C,R402C,R402H,S237P,S287T,S419L,T340S" "0,0,1,0,1,1,1,1,1,0,0,1,0" 7846 7568 hgmd186;pmd436.2;pmd438.3;pmd444.1;pmd445.2;pmd448.1;pmd449.2;pmd1234.1;pmd1235.2;pmd1248.1;pmd1249.2;pmd3282.1;pmd3283.1;pmd3284.1;pmd3285.1;pmd3286.1;pmd3287.1;pmd3970.2;pmd4185.1;pmd4186.2;pmd4197.1;sw2827;sws317;spmut2341;dbsnp29559;hgmd0613_37 NP_000045;V2R_HUMAN;NP_000045.1 "A132D,A147V,A163P,A223T,A285P,A294P,A305T,A305V,A42V,A61V,A84D,C112R,C112Y,C319R,D191G,D85N,F105V,F214S,F287L,G107E,G122D,G122R,G185C,G201D,G245A,G352D,H80R,I130F,I209F,I46K,L135P,L219P,L219R,L282P,L289P,L292P,L309P,L309R,L43P,L44P,L53R,L59P,L62P,L81F,L83P,L83Q,L94Q,M123K,M272K,N321D,N321K,N321Y,N55D,N55H,P173S,P217T,P286L,P286R,P286S,P322H,P322S,P349L,P95L,Q174L,Q92R,R104C,R106C,R113W,R137C,R137H,R137L,R139S,R143H,R143P,R158Q,R181C,R181H,R202C,R203C,R252W,R346C,R64W,R68Q,S126F,S127F,S167L,S167T,S318T,T204N,T207N,T7S,V206D,V215M,V266A,V277A,V88M,W164S,W323S,W99R,Y128S,Y205C,Y280C" "1,1,1,0,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,0,1,0,1,0,1,1,0,0,0,0,1,1,1,1,0,1,1,1,1,0,0,1,1,1,1,1,1,1,1" 554 9180 hgmd1870;sw10266;evn849;dbsnp16075;hgmd0613_2124 NP_110400;TBB1_HUMAN;NP_110400.1 "A185V,A198T,A248T,A287V,D448N,D88N,G109E,G223R,L305P,Q276R,Q43H,Q43P,R162Q,R162W,R213H,R307C,R307H,R318W,R359W,R46K,T274M,T439M,V349I,V5I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 81027 7569 hgmd1871;sw9735;dbsnp25188;hgmd0613_2423 NP_821080;TBB2B_HUMAN;NP_821080.1 "A185T,C201S,F265L,G235R,I210T,L228P,L65F,S172P,T312M" "0,0,1,0,1,1,0,1,1" 347733 7569 hgmd1872;sw4518;spmut2107;evn848;dbsnp8484;hgmd0613_1456 NP_006077;TBB3_HUMAN;NP_006077.2 "A302T,A302V,C12S,D417H,D417N,D440E,E205K,E410K,E441D,H6L,I4M,M323V,M436T,R262C,R262H,R276Q,R380C,R46S,R62Q,S176T,T178M,V155I,V170M,V326L" "1,1,0,1,1,0,1,1,0,0,0,1,0,1,1,0,1,0,1,0,1,0,0,0" 10381 7569 hgmd1873;evn1075;dbsnp7870;hgmd0613_1049 NP_003312;NP_003312.3 "A254T,C43G,E208K,G143S,G149S,G22S,I66M,N431S,S192P" "0,0,0,0,0,0,0,0,0" 7284 7483 hgmd1874;sw317;evn772;dbsnp24650;hgmd0613_1050 NP_003313;TULP1_HUMAN;NP_003313.3 "A153T,A245V,A496T,D124E,D444N,E122D,E126D,E433K,F382S,F491L,G266V,G368W,I259T,I459K,K238N,K261N,K261T,K489R,P143A,P499S,R180H,R182G,R308W,R378H,R400W,R420P,R482W,T192I,T454M,T67R" "0,1,1,0,0,0,0,0,1,1,0,1,0,1,0,0,1,1,0,0,0,0,0,1,1,1,1,0,1,0" 7287 5958 hgmd1875;pmd763.1;sw4907;evn708;dbsnp26976;hgmd0613_384 NP_000465;TWST1_HUMAN;NP_000465.1 "A173T,A186T,A87G,G57S,G84S,I156V,K145E,L131P,L168M,M112L,Q119P,R118C,R191S,S144R,S170Y,S188L,S31G,T108R,V111I" "0,1,0,0,0,1,1,1,0,0,1,1,0,1,0,1,0,0,0" 7291 12910 hgmd1876;sw2762;sws314;dbsnp11473 NP_003322;TYK2_HUMAN;NP_003322.3 "A428G,A53T,A81V,A928V,E1163G,G363S,G520D,G634E,H993Q,M564R,P1104A,P42T,P814L,P820H,R197H,R381W,R442Q,R448W,R482C,R4C,R4H,R521W,R703W,R818H,V15A,V386M,V603M,V981L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7297 1461 hgmd1877;pmd4552.1;pmd4553.1;sw2423;spmut2255;dbsnp17271;dbsnp17273;dbsnp17274;dbsnp17275;hgmd0613_855 NP_001944;TYPH_HUMAN;NP_001244917.1;NP_001107227.1;NP_001944.1;NP_001107228.1 "E289A,G145R,G153S,K222R,M173I,R44Q,R81Q,S471L,S65G" "1,1,1,1,0,1,0,1,0" 1890 6893 hgmd1878;pmd1933.2;pmd2012.2;pmd2364.1;sw2190;evn653;dbsnp1589;hgmd0613_309 NP_000363;TYRO_HUMAN;NP_000363.1 "A17T,A201S,A206T,A355E,A355P,A355V,A416S,C289G,C289R,C36Y,C55Y,C89R,D125Y,D199N,D240V,D305E,D383N,D42G,D444G,D448N,E294G,E294K,E328Q,E345G,E398A,E398V,E409D,F134C,F176I,F340L,F439V,G109R,G253R,G346E,G419R,G446S,G47D,G47V,G97R,H180N,H19Q,H256Y,H367Y,H390D,H404N,H404P,I222T,K142N,K243T,K503N,L216M,L288S,L312V,M179L,M332T,M370T,M426K,N283I,N371T,N371Y,N435D,P152S,P205T,P21S,P260L,P313R,P406L,P417H,P431L,P81L,Q378K,Q408H,Q68H,R217G,R217Q,R217S,R217W,R239Q,R239W,R299H,R299S,R308T,R402G,R402L,R405L,R422Q,R434I,R52I,R77Q,R77W,S192Y,S329P,S339G,S361R,S380P,S395N,S395R,S424F,S44G,S44R,S79L,T155S,T325A,T373K,V177F,V275F,V318E,V393F,V427G,V5A,W236L,W236S,W272C,W400L,W475L,W80R" "0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1" 7299 6142 hgmd1879;sw776;spmut2254;dbsnp12440;hgmd0613_1051 NP_003323;TYOBP_HUMAN;NP_003323.1 "D32E,R80W,V42M,V55L,Y111H" "0,0,0,0,0" 7305 14497 hgmd187;sw539;dbsnp8037;hgmd0613_1076 NP_003493;AXIN1_HUMAN;NP_003493.1 "A526T,A526V,A558T,D495E,G425S,L106R,P278L,P345L,Q269E,R349H,R801S,R803C,R841Q,S768L,T402M,V383M,V517I,Y145C" "0,0,0,0,1,1,0,1,0,1,0,0,1,0,0,0,0,0" 8312 2813 hgmd1880;sw2330;evn890;dbsnp29048;hgmd0613_451 NP_000541;TYRP1_HUMAN;NP_000541.1 "A24T,G300E,Q518H,Q530R,R153C,R23W,R326H,R356Q,R471W,R93C,R93H,T262M,V189L,V33A,V373I,V89A" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 7306 6029 hgmd1881;sw2524;evn993;dbsnp29734;dbsnp29735;hgmd0613_1052 NP_003325;UBA1_HUMAN;NP_003325.2;NP_695012.1 "A767T,E496K,F565S,F790L,G124S,L568V,M539I,N376E,N567K,N770H,P554S,R384W,R447H,R784Q,S547G,S877P,V317M" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0" 7317 1862 hgmd1882;evn615;dbsnp6472;hgmd0613_2250 NP_570853;NP_570853.1 "A95T,C117R,L204V,N368D,N462S,R128H,R132G,S184A,S194T,V267G" "0,0,0,0,0,0,0,0,0,0" 7337 2736 hgmd1883;sw12019;evn59;dbsnp15494;hgmd0613_1643 NP_037451;UBIA1_HUMAN;NP_037451.1 "A97T,D112G,D112N,D118G,D236E,D240N,D25E,E9Q,G177R,G186R,G98S,I338L,L100V,L121F,L188H,N102S,N232S,R119G,S171P,S75F,T175I,V122E,V122G,Y151C" "1,1,1,1,1,1,0,0,1,1,1,0,0,1,1,1,1,1,1,0,1,1,1,0" 29914 9938 hgmd1884;sw7130;dbsnp6703;hgmd0613_2402 NP_777576;UBR1_HUMAN;NP_777576.1 "A1225S,A1632V,A16V,G1264E,G1279S,H136R,I899V,K596M,L1296I,N1247K,Q218H,R1612G,R1712H,R316H,S1075R,S405G,T1097M,T1548A,T1548S,W977G" "0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 197131 585 hgmd1885;sw1920;spmut2315;evn826;dbsnp22235;hgmd0613_1166 NP_004172;UCHL1_HUMAN;NP_004172.2 "D191G,I93M,K195Q,L118P,M124L,S18Y" "0,1,0,0,0,0" 7345 12328 hgmd1886;sw3714;evn1090;dbsnp1523;hgmd0613_1054 NP_003346;UCP2_HUMAN;NP_003346.2 "A268G,A55V,A57T,D101E,I66V,K164R,M287T,N208T,R154Q,R76Q,S282C,S47N,V39I" "1,0,0,0,0,0,0,0,0,0,0,0,0" 7351 10603 hgmd1887;pmd4569.1;sw3718;evn1091;dbsnp1852;hgmd0613_1055 NP_003347;UCP3_HUMAN;NP_003347.1 "A111V,A92T,E295K,G45E,R119Q,R70W,R95H,T52M,T71P,V240M,V30L,V50A,V56M,V61M,V9M" "1,0,0,0,0,1,0,0,0,0,0,0,1,0,0" 7352 10603 hgmd1888;pmd3400.1;pmd3401.1;sw2522;evn286;dbsnp18158;hgmd0613_381 NP_000454;UD11_HUMAN;NP_000454.1 "A292V,A368T,A401P,A478D,A511P,C177R,E291V,E463D,F83L,G276R,G308E,G377V,G395V,H376R,H39D,I294T,I370V,K402T,K428E,L15R,L175Q,L443P,L474M,L518F,N279Y,N400D,P229Q,P34Q,P364L,P387H,P387S,P451L,Q331R,Q357R,R209W,R336L,R336Q,R336W,R367G,R403C,R403H,R442C,S191F,S250P,S375F,S381R,S488C,S488F,V109A,V225G,W461R,Y486D" "1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,0,1,1,0,1,0,1,1,1" 54658 6067 hgmd1889;sw2523;dbsnp18156;hgmd0613_1573 NP_009051;UD14_HUMAN;NP_009051.1 "A512P,A79T,C127S,E464D,E50D,E71Q,E72D,G158R,G309E,H68Y,I176F,I223L,I276L,L132P,L18H,L475M,L48S,L48V,N189S,P24T,P365L,P40H,P452L,Q332R,R11W,R404H,R443C,S166L,S376F,S489C,S489F,T78S,Y487D" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,1" 54657 6067 hgmd188;sw3858;spmut189;hgmd0613_1146 NP_004039;B2MG_HUMAN A11P 1 567 14409 hgmd1890;sw1795;dbsnp8025;dbsnp8026;hgmd0613_1057 NP_003352;UROM_HUMAN;NP_001008390.1;NP_003352.2 "C126R,C148W,C148Y,C217R,C223Y,C248W,C255Y,C300G,C315R,C317Y,C77Y,D25G,F639S,G103C,N128S,R375Q,R459W,T225K,T469M,T581N,T585I,V458L" "1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,0,0,1,1,0,0,0" 7369 4691 hgmd1891;sw2035;spmut2330;dbsnp20230;hgmd0613_310 NP_000364;UMPS_HUMAN;NP_000364.1 "G213A,G429R,I446V,R107H,R442Q,R96G,S276N,S30G,V109G" "0,1,0,0,0,1,0,0,1" 7372 6999 hgmd1892;sw6511;evn273;dbsnp8826;hgmd0613_2480 NP_954712;UN13D_HUMAN;NP_954712.1 "A1078T,A356G,A695T,A965T,A995P,C567Y,E94K,G1010W,H155Q,H224Y,H69Q,H858Q,I283V,I848L,K867E,L302F,M204V,N943S,P33Q,P591L,R1023C,R1061Q,R682H,R928H,R966W,R993H,S377R,T541M,T76M,V436P,V543A,V547A,V760I,V779L,V779M,V781I" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 201294 1750 hgmd1893;pmd3758.1;pmd4183.1;sw2113;spmut2333;dbsnp4757;hgmd0613_2244 NP_550433;UNG_HUMAN;NP_550433.1 "F251S,P131L,Q4R,R269W,R88C" "1,0,0,0,0" 7374 10574 hgmd1894;sw11255;evn119;dbsnp17661;hgmd0613_1800 NP_057411;BUP1_HUMAN;NP_057411.1 "A120S,A278V,A340D,A85E,E172K,F44L,G249R,H16P,R288P,R288Q,R326Q,R334Q,S264R,S324G,T129M,T180K,V28I" "0,0,0,1,0,0,0,0,0,0,1,0,1,0,0,0,0" 51733 8905 hgmd1895;sw9927;spmut1734;evn593;dbsnp30029;hgmd0613_2239 NP_542199;REN3B_HUMAN;NP_542199.1 "A49V,K303N,L329P,L71F,R255K,R358C,R373H,R374H,Y160D" "0,0,0,0,0,0,0,0,1" 65109 6942 hgmd1896;sw1052;dbsnp17424;hgmd0613_1561 NP_008884;UPK3A_HUMAN;NP_008884.1 "A154P,D112A,G140R,G202D,I119T,M237K,P273L,Q149H,Q91L,R135K,S87A,T88M" "0,0,0,1,0,0,1,0,0,0,0,0" 7380 11154 hgmd1897;sw487;dbsnp23607;hgmd0613_1689 NP_055217;QCR8_HUMAN;NP_055217.2 "E4K,S45F" "0,1" 27089 14813 hgmd1898;sw9210;dbsnp20812;hgmd0613_2304 NP_653240;HUTU_HUMAN;NP_653240.1 "A414T,A475T,A531T,A642T,A65S,G203D,G251R,G422D,G564S,I182T,L70P,M252I,P27S,R14W,R188W,R295H,R429C,R450C,R496Q,R502Q,R78P,S311T,S483P,T189M,T331M,T332M,T362M,V115M,V595M,Y643C" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 131669 3740 hgmd1899;pmd3610.1;pmd3611.1;pmd3760.1;pmd3761.2;pmd3762.1;pmd3763.1;sw1720;spmut474;evn369;dbsnp15080;hgmd0613_311 NP_000365;DCUP_HUMAN;NP_000365.3 "A128D,A80G,A80S,E167K,E218K,F229L,F232L,F46L,G156D,G168R,G170D,G25E,G281E,G281V,G303S,G303V,G318R,H220P,I260T,I334T,K15E,L161Q,L195F,L216Q,L253Q,L282R,M165R,M324T,N304K,P106L,P235S,P62L,P77L,Q9H,R113T,R122Q,R142Q,R144P,R148C,R193P,R292G,R332H,S219F,V134Q,V208A,Y311C" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,0,0,0,0,1,1,0,1,1,1,1,1,0,1" 7389 9250 hgmd189;sw1077;evn222;dbsnp20329;dbsnp20330;dbsnp20331;dbsnp20332;dbsnp20333;hgmd0613_1109 NP_003772;B3GL1_HUMAN;NP_001033717.1;NP_149358.1;NP_149357.1;NP_149359.1;NP_003772.1 "D126N,E266A,F31L,G271R,H64R,K124R,N172S,S3P,T114I,T156A,V176I" "0,1,0,1,0,0,0,0,0,0,0" 8706 10104 hgmd18;sw4278;dbsnp1548;hgmd0613_293 NP_000343;ABCC8_HUMAN;NP_000343.2 "A116P,A1369S,A1457T,A309G,A355T,A625V,A726T,C418R,C435R,D1471H,D1471N,D310N,D673N,D810N,E1506K,E382K,E501K,F132L,F132V,F27S,F591L,F686S,G1342E,G1378R,G1381S,G1400R,G1478R,G70E,G716V,G7R,H1023Y,H125Q,H562Q,I1424V,I462V,K1336N,K1384Q,K1521N,K649N,K719T,K889T,L104V,L1147R,L1349Q,L1450P,L1543P,L1551V,L213R,L225P,L503P,L508P,L582V,M233R,N1295K,N188S,N406D,N72S,P551R,R1182Q,R1214Q,R1214W,R1352H,R1352P,R1379C,R1393H,R1418H,R1420C,R1436Q,R1486K,R1493Q,R1493W,R275Q,R495Q,R620C,R74Q,R74W,R834C,R841G,S1386F,S956F,T1068M,T1130P,T1138M,T1499S,V1360G,V1360M,V1364I,V1550D,V1572I,V187D,V21D,V560M,V575M,V86A,Y356C" "1,0,1,0,0,0,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,0,0,1,0,1,0,1,1,0,0,1,1" 6833 751 hgmd1900;pmd1233.1;sw2011;spmut858;evn629;dbsnp803;hgmd0613_312 NP_000366;HEM4_HUMAN;NP_000366.1 "A104V,A234T,A66V,A69T,C73R,D113V,G188R,G188W,G225S,I129T,I165V,I176M,I219S,K124R,L237P,L4F,P248Q,P261A,P53L,S212P,S47P,T228M,T62A,V171G,V171I,V3F,V82F,V99A,Y19C" "1,0,1,1,1,0,1,1,1,1,0,0,1,0,1,1,1,0,1,1,1,1,1,0,0,1,1,1,1" 7390 11580 hgmd1901;sw12086;spmut2335;dbsnp1676;hgmd0613_1411 NP_005700;USH1C_HUMAN;NP_005700.2 "A415T,E519D,G421S,R103H" "0,0,0,1" 10083 2619 hgmd1902;sw5269;spmut2336;evn720;dbsnp9953;hgmd0613_2390 NP_775748;USH1G_HUMAN;NP_775748.2 "D279E,D458V,G328V,G338R,H198P,K239Q,L420V,L48P,P28L,R156K,R189Q" "0,1,0,0,0,0,0,1,0,0,0" 124590 7382 hgmd1904;sw9821;spmut2298;dbsnp29913;hgmd0613_2148 NP_114113;UBP26_HUMAN;NP_114113.1 "D743E,E913G,G275S,L517F,M579I,N378S,N771T,P653A,R51W,R875P,S200F,T659M" "0,0,0,0,1,0,0,0,0,0,0,1" 83844 2538 hgmd1905;sw8112;evn355;dbsnp14166;dbsnp14167;hgmd0613_2278 NP_620409;VANG1_HUMAN;NP_001165883.1;NP_620409.1 "A116P,A116T,A404S,D468E,E25K,E347A,F153S,I411T,I92V,K108R,L202F,M328T,R175Q,R175W,R181Q,R274Q,S83L,T251M,V103M,V239I,Y290H" "0,0,1,0,0,0,1,0,0,0,1,1,0,0,1,1,1,0,0,1,0" 81839 6222 hgmd1906;sw1270;dbsnp16742;hgmd0613_1261 NP_004729;VAPB_HUMAN;NP_004729.1 "D130E,M170I,P56S,R184Q,T46I" "0,0,1,0,1" 9217 11012 hgmd1907;sw2356;evn804;dbsnp794;hgmd0613_1653 NP_054706;VINC_HUMAN;NP_054706.1 "A413T,A571V,A934V,A937V,A990V,E1054K,G282D,G926S,H636R,I388V,I519L,I918N,I925L,K639R,L277M,L312S,L432V,M534I,N379T,P919R,P943A,P943S,R230C,R285H,R433C,R586Q,R975W,S290F,S345A,T468M,V234L,V927G,V928A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 7414 1603 hgmd1908;sw3680;spmut2126;evn230;dbsnp29543;hgmd0613_1574 NP_009057;TERA_HUMAN;NP_009057.1 "A232E,D592N,R155C,R155H,R155P,R159G,R159H,R191Q,R744S,R95G,R95H,S794N,T436I" "1,1,1,1,1,1,1,1,0,1,0,0,0" 7415 3167 hgmd1909;pmd450.1;pmd451.1;pmd1252.1;pmd1253.2;pmd1352.1;pmd2674.1;pmd2675.1;pmd3289.1;pmd3290.1;pmd3291.1;pmd3292.1;pmd4200.1;pmd4570.1;sw2055;dbsnp3684;dbsnp3685;hgmd0613_570 NP_001017535;VDR_HUMAN;NP_001017535.1;NP_000367.1 "A350T,E420A,F251C,F47I,G33D,G46D,H305Q,H35Q,I314S,K45E,L230V,M1K,M1R,M1T,R18W,R274L,R358H,R391C,R50G,R50Q,R54Q,R73Q,R80Q,T362I,V339I" "0,1,1,1,1,1,1,1,1,1,0,0,0,0,0,1,0,1,0,1,0,1,1,0,0" 7421 7065 hgmd190;sw6349;dbsnp4943;hgmd0613_2456 NP_919299;B3GLT_HUMAN;NP_919299.3 "D150E,D469Y,E370K,G230R,G369S,I168M,L440V,V245M,V372L,V403I,Y301F" "0,0,0,0,0,0,0,0,0,0,0" 145173 6693 hgmd1910;dbsnp25649;hgmd0613_579 NP_001020537;NP_001020537.2 "K327R,N216I,R288W,R403H" "0,0,0,0" 7422 8327 hgmd1911;pmd1236.1;pmd1237.2;pmd1238.1;pmd1239.2;pmd1240.1;sw3106;spmut2351;evn790;dbsnp20650;hgmd0613_452 NP_000542;VHL_HUMAN;NP_000542.1 "A122I,A149T,C162F,C162R,C162W,C162Y,D121G,D126Y,D143E,E186K,E52K,E70K,F119S,F136C,F136S,F136Y,F76I,F76L,F76S,F91L,G104A,G106D,G114C,G114R,G114S,G34S,G93C,G93D,G93S,H110Y,H115R,H115Y,H191D,I147T,I180V,K159E,L101G,L101R,L116V,L118P,L118R,L128F,L135F,L158P,L158V,L163P,L178P,L178Q,L184P,L184R,L188P,L188Q,L188V,L198Q,L198R,L63P,L89H,L89P,N131K,N131T,N78H,N78S,N78T,N7S,P154L,P192S,P2R,P81S,P86A,P86H,P86L,P86R,P86S,Q145H,Q164H,Q164R,Q96P,R107G,R107P,R161G,R161P,R161Q,R167G,R167Q,R167W,R176W,R200W,R205H,R64P,R79P,R82P,S111C,S111N,S111R,S38P,S65A,S65L,S65W,S68W,S80I,S80N,T105P,T157I,V130L,V155G,V155M,V166D,V166F,V170D,V170F,V170G,V74G,V84L,W117C,W88S,Y112H,Y112N,Y156C,Y156D,Y156N,Y175D,Y98H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 7428 12671 hgmd1912;evn1007;dbsnp710;hgmd0613_1059 NP_003371;NP_003371.2 "A216T,A280S,A296D,A308S,D181A,E152K,E300G,L185P,L237I,N201S,N212S,N303L,P416Q,Q250R,Q311L,R381H,T317N,V434I,V77A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7431 7197 hgmd1913;evn743;dbsnp6169;dbsnp6170;dbsnp6171;dbsnp6173;hgmd0613_2014 NP_071350;NP_001180243.1;NP_071350.2;NP_001180244.1;NP_001180246.1 "A465T,A98V,L484F,R162Q,R455W,R72K,S152G,S485R,S487L,T436M,T436R,T81S,V278I,V356I,V46M,Y454C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63894 6779 hgmd1914;sw9577;dbsnp8180;hgmd0613_2047 NP_076869;VKOR1_HUMAN;NP_076869.1 "A26T,D36G,D36Y,G71A,H68Y,I123N,L128R,N77S,N77Y,R58G,R98W,S52W,S56F,V29L,V45A,V66G,V66M,W59C,W59L,Y139H" "1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 79001 13655 hgmd1915;sw3984;spmut2356;evn550;dbsnp28351;hgmd0613_1060 NP_003374;VLDLR_HUMAN;NP_003374.3 "A492T,A597V,A771P,D157S,D214N,D590N,D618Y,E379K,F484L,H116N,I244M,I498V,I561V,L464I,L650V,L6R,N151D,N81S,P105T,P262H,P35L,R301Q,R448Q,R613H,R634H,S155T,S328G,S738N,T755P,T764M,V433M,V506I,V59I,V791I,Y378H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7436 2750 hgmd1916;sw9362;sws1044;evn1088;dbsnp29206;hgmd0613_2206 NP_150648;VP13A_HUMAN;NP_150648.2 "A1095P,C1070R,E1028G,E1548K,E1678Q,E2137G,F565L,G1119E,G2011R,H1336L,H2742R,H3124N,H324R,H997R,I2486T,I2486V,I2652V,I90K,K2672N,K2743T,L1388S,M1903V,N2332D,N259D,N697S,P2072L,P3172L,Q1202R,Q2596E,R1490K,R1962C,R3040Q,R3092C,S1452P,S1916N,S2167N,S734N,T1404I,T2511A,V1973I,V2181I,V384M,V898A,W2460R,Y1587C,Y1824C,Y2721C" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,1" 23230 126 hgmd1917;sw6760;sws779;evn641;dbsnp27722;hgmd0613_1857 NP_060360;VP13B_HUMAN;NP_060360.3 "A3033E,A3437T,A3437V,A3641T,A3716T,A590T,A825T,A829T,C1427Y,D1871N,D2595N,D3057Y,D3655E,D661N,E1868V,E243D,E2585K,E363K,E3745K,G1127W,G2645D,G3432R,G430A,G567E,H1642D,H2074Q,H3131Y,H328R,H520R,I1000T,I1232T,I1380V,I1583N,I1994V,I2820T,I3607V,I390V,K1129R,K1217T,K2289E,K3542E,K3991I,K881N,K902E,L1714M,L1933V,L2193R,L2654V,L3439S,L793V,M1039T,M1039V,M307I,N2164S,N2993S,N3376I,N3463S,P1138L,P1250S,P2882L,Q416H,Q813R,R1416Q,R187H,R2351Q,R3223W,R3757Q,R3945Q,R510C,R611K,S115N,S1219C,S1859L,S1960A,S1989P,S2572G,S2596F,S2773L,S3142G,S3142R,S3796L,S824A,S824F,T1068I,T1262P,T1271S,T1289S,T1894M,T1946A,T3375I,T488M,T622I,V1187I,V2456M,V2481I,V2584A,V2584L,V3340I,V3805L,V3911I,V759L,V821I,V866I,Y2341C,Y2749C,Y2822C" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0" 157680 76 hgmd1918;sw10162;evn113;dbsnp6654;hgmd0613_1895 NP_061138;VP33B_HUMAN;NP_061138.3 "A105S,A281G,C199W,F513S,F572V,G220S,G514S,I383T,K489R,L30P,M400V,N78S,R315Q,R315W,R339G,R389Q,R51G,R594K,S243F,S425N,T451A,Y593H" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0" 26276 4942 hgmd1919;sw11081;evn1038;dbsnp16494;hgmd0613_1696 NP_055403;VSX1_HUMAN;NP_055403.2 "A256S,A325S,D105E,D136E,D144E,E335K,G160D,H244R,L159M,L17P,M1K,P247R,Q175H,R131S,R134C,R166Q,R166W,T365I" "1,0,0,0,1,0,1,1,1,1,0,1,1,0,0,0,1,0" 30813 9292 hgmd191;pmd4368.2;pmd4369.3;sw11270;dbsnp23757;hgmd0613_1585 NP_009186;B4GT7_HUMAN;NP_009186.1 "A186D,A272T,G304R,H93Y,L206P,R212W,R233W" "1,0,0,0,1,0,0" 11285 10210 hgmd1920;sw3785;evn1037;dbsnp6071;hgmd0613_2443 NP_878314;VSX2_HUMAN;NP_878314.1 "A349V,D286E,D291N,G223A,G322E,I306V,M180T,P100Q,P327Q,P355L,Q90L,R200P,R200Q,R227W,T89A,V308A" "0,0,0,1,0,0,0,0,0,0,0,1,1,1,0,0" 338917 9380 hgmd1921;dbsnp3300;hgmd0613_453 NP_000543;NP_000543.2 "A1377V,A1795V,A2178S,A488G,A542G,A585T,A837D,C325F,C521S,D1472H,E1290K,E1554G,E2353D,F2561Y,F885S,G131S,G2592R,G2705R,G899S,G967D,H484Q,H484R,I1380V,L2629Q,L2629R,L876F,M576I,M740I,M947V,N1435S,N2679S,N318K,N780K,P1127S,P1240L,P1551T,P1725S,P2506L,P2626T,P2695R,P653L,P769S,P769T,Q1003R,Q1030R,Q1762R,R1035G,R1205H,R1205L,R2185Q,R2384Q,R2384W,R2478Q,R2663P,R302T,R436C,S1486L,T1381A,T1951A,T2666M,T346I,V102M,V137L,V1439M,V2540A,V2793A,V444I,V471I,V86M,Y1831C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,1,0,1,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0" 7450 172 hgmd1922;pmd1256.2;sw3188;dbsnp30513;hgmd0613_313 NP_000368;WASP_HUMAN;NP_000368.1 "A134T,A236E,A56V,C43W,C73R,E131K,E133K,E31K,F84L,G187C,G70W,G89D,I481N,K476E,L270P,L27F,P460S,P58L,P58R,Q52H,R138Q,R477K,R86C,R86H,R86L,S82P,T45M,T48I,V75M,W97C,Y83C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1" 7454 6616 hgmd1923;sw8105;evn298;dbsnp23595;hgmd0613_2291 NP_644810;WDR36_HUMAN;NP_644810.1 "A163V,A353S,A449T,D126N,D33E,D548N,D658G,D708G,E454Q,F167L,F936L,H212P,I264V,I604V,I609M,K36T,K416Q,K492T,L25P,L738M,L846F,M671V,N355S,P31T,Q536R,R286C,R430H,R529Q,S580N,S90I,Y216P" "0,1,1,1,1,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,1,0,0,0,1,0,0,0" 134430 2329 hgmd1924;sw1133;dbsnp21758;dbsnp21759;hgmd0613_1439 NP_005996;WFS1_HUMAN;NP_005996.2;NP_001139325.1 "A126T,A133T,A134T,A150V,A243V,A422V,A586S,A58V,A598T,A602E,A602G,A684V,A716T,C690R,D118A,D267N,D797Y,E169K,E269K,E273K,E385K,E391K,E593D,E680A,E737K,E776V,E864K,F439C,F564L,G107R,G437R,G674R,G695V,G736S,G745S,G780R,G780S,G831D,H109Y,H407R,H407Y,I296S,I720V,I802V,I863M,K193Q,K634T,K836N,K876T,L829P,M306T,N500K,P16L,P216R,P292S,P504L,P52T,P724L,P7L,P885L,R161Q,R228H,R285H,R375H,R456H,R456L,R456P,R457S,R587Q,R611C,R611H,R629W,R653C,R708C,R732H,R818C,R859Q,R868H,S423N,S443I,T117M,T455M,T665I,T665N,T699M,V333I,V580E,V601L,V601M,V779M,V871M,W700C,Y110N,Y669C" "1,1,0,0,0,0,0,1,0,0,0,1,1,1,0,0,1,1,0,0,0,0,0,0,1,1,1,0,0,0,1,1,1,1,0,1,1,1,0,0,0,1,0,0,0,1,1,1,0,1,0,0,0,0,1,1,0,1,0,1,1,0,0,0,0,0,0,1,0,0,0,1,1,1,0,1,1,0,0,1,0,0,0,0,1,0,0,0,0,1,1,1,1,1" 7466 2659 hgmd1925;sw1290;evn823;dbsnp24568;hgmd0613_1123 NP_003871;WISP3_HUMAN;NP_003871.1 "C78R,I298L,K261E,N178I,P26L,P31T,Q56H,R60C,R60H,V104L,V21A,W50R" "1,0,0,0,0,0,0,0,0,0,0,0" 8838 9176 hgmd1926;sw9026;sws1001;evn633;dbsnp9012;hgmd0613_2163 NP_115763;WNK4_HUMAN;NP_115763.2 "A601S,A6T,A80D,C618F,D564A,E562K,G1061A,G465E,G639R,G665A,L1013P,M755V,P1011R,P1025L,P1108S,P451L,P555R,P556A,P556T,P600A,P770S,P813L,P825L,P961S,Q565E,R1185C,R1185H,R1198H,R508H,R629C,R675W,R677W,R743Q,R994W,S630P,T16I,T790N,T798S,T802N,T869A,T891M,V1084A,V969L,Y721C" "0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65266 1301 hgmd1927;sw10017;evn536;dbsnp18824;hgmd0613_2109 NP_079492;WN10A_HUMAN;NP_079492.2 "A324T,D217N,E119D,E167K,G165R,H143Y,I93V,L273I,P302T,R113C,R128Q,R171C,R360C,R70W,S68N,V145M" "0,1,0,0,0,1,0,0,0,0,1,0,1,0,0,1" 80326 8230 hgmd1928;sw388;evn639;dbsnp4394;hgmd0613_1063 NP_003385;WN10B_HUMAN;NP_003385.2 "C256Y,H77Y,I285T,P301S,P37R,Q74E,R156W,R332W,R339L,S172N,T323P" "0,0,0,0,0,0,0,1,0,0,0" 7480 8230 hgmd1929;sw3741;evn952;dbsnp16016;hgmd0613_2120 NP_110388;WNT4_HUMAN;NP_110388.2 "A114V,E216G,L12P,P277L,Q319H,R83C,V224M" "1,1,1,0,0,1,0" 54361 9622 hgmd192;sw4602;spmut192;evn584;dbsnp28566;dbsnp28567;hgmd0613_809 NP_001692;BAAT_HUMAN;NP_001121082.1;NP_001692.1 "H271R,K117R,L218F,M76V,P135A,Q339K,R201P,R20Q,S333G,T376M,V114E,V137I,V304A" "0,0,0,1,0,0,0,0,0,0,0,0,0" 570 8190 hgmd1930;sw3130;evn603;dbsnp21647;hgmd0613_1062 NP_003383;WNT5A_HUMAN;NP_003383.2 "A199T,A20T,C182R,C83S,H241R,I32V,I5V,M16T,S9R,V28M" "0,0,1,1,0,0,0,0,0,0" 7474 8967 hgmd1931;sw391;evn742;dbsnp21414;hgmd0613_1245 NP_004616;WNT7A_HUMAN;NP_004616.2 "A109T,E72K,G25D,M18I,M345V,N2T,R222W,R292C,R55Q,R7C,S27Y,S28T,T343M" "1,1,0,0,0,0,1,1,0,0,0,0,0" 7476 9677 hgmd1932;sw4636;sws588;spmut2374;dbsnp27461;hgmd0613_454 NP_000544;WRN_HUMAN;NP_000544.2 "A995T,C1070F,C1367R,C391F,D77H,D996N,E343K,I912S,I979M,K125N,K1269E,K135E,K146E,K32R,L1074F,L383F,L383W,L44V,L984I,M387I,N240K,N533S,N722S,P1071S,Q329R,Q724L,R1020C,R1020H,R1427T,R225Q,R36Q,R637W,R711W,R834C,S1079L,S1133A,S1141L,S1292Y,S612C,S708F,T1262R,T172P,T324A,T573A,T705I,V114I,V1339I,V342A,Y543S" "0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7486 932 hgmd1933;sw3308;sws389;spmut2380;evn1020;dbsnp18064;hgmd0613_314 NP_000370;XDH_HUMAN;NP_000370.2 "A255T,A814V,C1318Y,D295N,D584A,E133K,E533K,E601G,E726K,G172R,G951R,I1179T,I646V,I703K,I703V,I788F,K1292R,K1313E,K395M,K479Q,K552R,K5E,K617N,L287V,L720P,N1109T,P1150A,P1150R,P1216H,P555S,Q551H,R1176C,R1246C,R1246H,R1296Q,R129W,R1307H,R149C,R224Q,R224W,R508Q,R576W,R607Q,R60C,R787Q,R943Q,S1068N,S425C,T1069A,T235M,T623I,T856M,T910K,T910M,V1091L,V592M,V629F,V629I,Y1255F,Y818H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0" 7498 1089 hgmd1934;sw3990;spmut2381;evn1036;dbsnp29964;dbsnp29965;hgmd0613_716 NP_001158;XIAP_HUMAN;NP_001158.2;NP_001191330.1 "D125N,D242E,G8E,M422T,N107S,P257A,Q423P,S133F,S313T,T470S,V230I,V411I" "0,0,0,0,0,0,0,0,0,0,0,0" 331 6711 hgmd1935;sw3541;spmut2382;evn596;dbsnp30212;hgmd0613_1981 NP_066569;XK_HUMAN;NP_066569.1 "C294R,C88W,E327K,E411A,I323M,R222G,V384I,Y370D" "1,0,1,0,0,1,0,0" 7504 7689 hgmd1936;sw2555;evn5;dbsnp28591;hgmd0613_315 NP_000371;XPA_HUMAN;NP_000371.1 "C108F,H244R,L252V,M256V,P94L,Q185H,R130K,R228Q,S23L,V166A,V234L,V97I" "1,1,0,0,1,1,1,0,0,0,0,0" 7507 11405 hgmd1937;sw710;dbsnp5459;dbsnp5460;dbsnp5461;hgmd0613_1367 NP_005423;XRCC3_HUMAN;NP_001093588.1;NP_005423.1;NP_001093589.1 "G271R,R160W,R243H,R302H,R58Q,R58W,R94H,T241M" "0,0,0,0,0,0,0,0" 7517 9757 hgmd1938;sw6971;spmut2389;evn1080;dbsnp7709 NP_071449;XYLT1_HUMAN;NP_071449.1 "A223G,D232H,D433E,E191D,E485Q,E834D,G573S,G640S,G923D,K809E,N884S,P142L,P236L,P325R,P385L,P581L,P766A,P852R,Q200L,R141W,R147Q,R453Q,R477H,R586C,R892Q,T665M,V839I,Y614C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64131 2287 hgmd1939;sw3644;evn476;dbsnp13551;hgmd0613_1095 NP_003671;SYYC_HUMAN;NP_003671.1 "A316T,A339T,E196K,E361V,G41R,I186V,M431L,Q170H,R450C,R450H,V410M" "0,0,1,0,1,0,0,0,0,0,0" 8565 6165 hgmd193;sw1369;dbsnp304;hgmd0613_1176 NP_004272;BAG3_HUMAN;NP_004272.2 "A155T,A405V,A479V,C151R,D300N,E414K,E455K,E553D,H83Q,I94F,L462P,M9V,P115S,P209L,P380S,P407L,P63A,P77L,R218W,R258W,R477H,R71Q,R71W,S274L,V468M,V530M" "0,0,0,0,0,0,1,0,0,1,1,0,1,1,1,0,0,0,1,1,1,0,1,0,1,0" 9531 5477 hgmd1940;pmd458.1;pmd1218.1;pmd1221.2;pmd1222.3;pmd4318.2;pmd4605.2;sw3228;sws375;spmut2394;evn756;dbsnp19547;hgmd0613_621 NP_001070;ZAP70_HUMAN;NP_001070.2 "A507V,C564R,I299V,I342T,L337R,M549V,M572L,P191L,P80Q,R175L,R465C,R465H,S518R,T155M,W523L" "1,1,0,0,1,0,1,0,1,0,1,1,1,0,0" 7535 4741 hgmd1941;sw4168;evn336;dbsnp3052;dbsnp3053;hgmd0613_1440 NP_005997;ZBT16_HUMAN;NP_001018011.1;NP_005997.2 "E146Q,G178A,G318S,K341R,M121I,M617V,P309A,P327A,T317A,V306L,V358M" "0,0,0,0,0,1,0,0,0,0,0" 7704 4336 hgmd1942;sw6137;evn232;dbsnp30299;hgmd0613_2397 NP_776159;ZCH12_HUMAN;NP_776159.1 "D42G,G250D,G323S,I345V,L179I,L270I,P232T,R214G,R241T,R7C" "0,0,0,0,0,0,0,0,0,0" 170261 8534 hgmd1943;sw11826;spmut2396;evn1013;dbsnp30794;dbsnp30795;hgmd0613_1785 NP_057116;ZDHC9_HUMAN;NP_001008223.1;NP_057116.2 "E339D,E345K,P150S,R148W,S325N" "0,0,1,1,0" 51114 6870 hgmd1944;sw3068;evn73;dbsnp749;hgmd0613_2119 NP_110378;ZEB1_HUMAN;NP_110378.3 "A383S,A656S,A773T,A905G,A905T,D660G,E1032D,E1079D,E1086A,E1111K,G1106E,G1110S,G90R,K553R,L1105V,L735V,M390V,N658K,N78T,P649A,Q810P,Q840P,Q854K,T1089P,T751A,T806A,V675I" "0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,0,0,0,0,0" 6935 1640 hgmd1945;sw815;sws92;evn613;dbsnp19336;hgmd0613_1708 NP_055610;ZEB2_HUMAN;NP_055610.1 "A129T,A480S,A63P,E1183G,I744V,M736V,N100S,P494S,P714L,Q1119R,Q17K,R345K,R695Q,R921Q,R952T,R953G,S106P,S885G,T579A" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0" 9839 1382 hgmd1946;dbsnp24849;hgmd0613_670 NP_001103279;NP_001103279.2 "D368V,N198S,Q70L,R125Q,R187C,R313G,R370T,R38W,S74W,T234M" "0,0,0,0,0,0,0,0,0,0" 346171 6038 hgmd1947;sw8411;evn974;dbsnp27599;hgmd0613_1600 NP_036214;FOG2_HUMAN;NP_036214.2 "A1055V,A403G,D661E,E30G,E377D,E782D,G389S,I1063V,I790L,L214F,L420P,M212L,N767S,P90S,Q424E,R1008T,R453I,S1112T,S657T,T404I,V763I" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23414 1548 hgmd1948;sw1299;evn654;hgmd0613_1575 NP_009060;ZIC2_HUMAN;NP_009060.2 "C335F,D128N,D152F,D37N,F314C,H286L,H286Q,H286Y,H291Y,H327Y,H404R,H415Q,P419R,Q36P,R325L,R325S,R373P,R409W,S272N,T403K,W304R,Y402N" "1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1" 7546 6096 hgmd1949;sw842;spmut2404;evn1049;dbsnp30402;hgmd0613_1065 NP_003404;ZIC3_HUMAN;NP_003404.1 "A203T,C253S,E117D,G17C,H25Q,H286R,K405E,P217A,T323M,W255G" "0,1,0,1,0,1,1,1,1,1" 7547 6096 hgmd194;dbsnp22011 NP_060405;NP_060405.4 "C300F,E570K,E685K,F214V,H762Y,I319T,K316T,K757T,M377I,P513S,P577L,R240W,R604Q,R641G,R770Q,S303R,S507N,T668A,V271I,V310A,V51I,W40C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55024 3313 hgmd1950;sw1095;evn517;dbsnp15105;hgmd0613_1420 NP_005848;FACE1_HUMAN;NP_005848.2 "C109G,G308R,L462V,M13I,N265S,P248L,R369Q,T137A,T29I,T471S,T87I,W340R" "0,0,0,0,1,1,0,0,0,0,0,1" 10269 7101 hgmd1951;evn44;dbsnp29826;dbsnp29827;hgmd0613_2360 NP_700359;NP_009061.1;NP_700359.1 "A666V,C301R,D315E,E249A,G219R,I125R,I70V,I739L,K174N,K197R,K303E,K38R,L79F,M768T,N220K,S393F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7592 2882 hgmd1952;sw5135;dbsnp30393;hgmd0613_601 NP_001034980;ZN674_HUMAN;NP_001034980.1 "L182F,P412L,T343M" "0,1,0" 641339 4652 hgmd195;pmd1399.2;sw9506;sws1067;evn755;dbsnp18197;hgmd0613_382 NP_000456;BARD1_HUMAN;NP_000456.2 "C557S,C645R,D741A,E223G,E580K,H116Y,I738V,K153E,K207R,L220S,L390H,M414V,N118S,N326S,P24S,Q564H,R378S,R565H,R658C,R731G,S186G,S241C,S728F,T299I,V507M,V590A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 580 3384 hgmd196;sw7861;dbsnp2755;hgmd0613_2080 NP_078925;BBS1_HUMAN;NP_078925.3 "D148N,E234K,E79K,G305S,G394D,G559D,H35R,H581Q,I330T,K53E,L206V,L503H,L518P,L518Q,L59V,M390R,P245L,P370L,R160Q,R450Q,T162M,V582I,Y434S" "1,1,0,1,0,0,1,0,1,1,1,1,1,1,0,1,1,0,1,0,0,0,1" 582 5220 hgmd197;sw8124;spmut203;evn687;dbsnp4095;hgmd0613_2082 NP_078961;BBS10_HUMAN;NP_078961.3 "A251V,A296T,A474V,A479E,A634V,A636V,C195W,C91W,D142N,G677V,H116Q,H404Q,H410Q,H715R,I557V,K188T,K426E,K579R,L170S,L308F,L376F,L414S,L445I,L55P,L562I,L562V,L600S,L687P,M255I,N544S,N566D,P363L,P505L,P539L,P655L,R34P,R49W,R530S,S311A,S320I,S329L,S464L,T516R,T689P,V240G,Y197C,Y613C,Y613H" "0,0,0,0,0,1,1,1,0,1,0,0,1,0,0,1,0,1,1,1,0,1,0,1,0,0,1,1,1,0,0,1,0,0,0,1,1,0,1,0,1,0,0,1,1,1,1,1" 79738 3847 hgmd198;sw6490;dbsnp21733;dbsnp21734;hgmd0613_2345 NP_689831;BBS12_HUMAN;NP_689831.2;NP_001171478.1 "A289P,A489T,A615V,D467N,E126D,G119S,G539D,G540V,I170V,I346T,I39T,K195R,K408R,L88R,N238K,N461H,N71S,P159L,Q293E,Q620R,R355Q,R368H,R386Q,R484K,R525H,R674C,S327T,S429T,T501M,V115A,V400M,Y263H,Y524C" "1,0,0,0,0,0,1,1,0,1,0,0,1,1,0,0,0,1,1,0,1,0,0,0,1,1,0,0,1,0,1,0,1" 166379 3965 hgmd199;sw9792;dbsnp7296;hgmd0613_2145 NP_114091;BBS2_HUMAN;NP_114091.3 "A122V,A136P,A504V,C307W,D104A,D174E,E629K,G81C,I123V,L125R,L349W,N70S,R23P,R315Q,R315W,R632P,R643C,R643H,R684H,T558I,V75G,Y317C" "0,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,0,1,1,1" 583 3866 hgmd19;sw876;evn939;dbsnp4464;hgmd0613_1410 NP_005682;ABCC9_HUMAN;NP_005682.2 "A1513T,A665T,E629D,G331R,G684S,H1305Q,L1524I,M1511L,P1080S,P1108S,R694Q,S237T,S624G,T1547I,V1137I,V1530A,V637I,V734I" "1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 10060 751 hgmd1;dbsnp3245;hgmd0613_1 NP_000005;NP_000005.2 "A844V,F102L,L815Q,Q339L,R360Q,T1239M,V353L,V377I,V587A" "0,0,0,0,0,0,0,0,0" 2 856 hgmd200;sw9360;dbsnp6582;hgmd0613_2195 NP_149017;BBS4_HUMAN;NP_149017.2 "A364E,A379V,A393V,A504V,C264F,D251G,D368G,E268K,E412D,E518K,E61K,G250R,I172V,I354T,I70V,K358R,K46R,L327P,L351R,M472V,N165H,N350S,P503L,R295P,S110C,S457I,T488K" "1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,1,1,1,0,1,1,0,1,1" 585 6321 hgmd201;sw7423;evn1012;dbsnp19266;hgmd0613_2335 NP_689597;BBS5_HUMAN;NP_689597.1 "A130V,A19S,D195G,G294D,G72S,N184S,N251D,R11Q,R207H,V256L" "0,0,0,0,1,0,0,0,0,0" 129880 9873 hgmd202;sw7141;dbsnp22631;hgmd0613_2417 NP_789794;BBS7_HUMAN;NP_789794.1 "D412G,D421E,G63R,H323R,H502R,I404T,I66F,I75V,M114L,Q293P,R459C,T211I,Y671C" "0,0,1,1,0,0,1,0,0,1,0,1,0" 55212 3913 hgmd203;sw5246;evn933;dbsnp26415;hgmd0613_2466 NP_940820;PTHB1_HUMAN;NP_940820.1 "A427V,A455T,A455V,A739V,D696N,E475Q,E753V,E765G,E770G,G141R,I550V,I588S,I617L,I640V,L246F,L665F,L779Q,L793M,R521Q,R587Q,R824C,S256L,S288G,S788F,S820A,T12A,T496I,T549I,T702N,T865A,V371A,V416M,V590I" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27241 2676 hgmd204;sw3477;spmut204;dbsnp11155 NP_005572;BCAM_HUMAN;NP_005572.2 "D232V,E120K,K451Q,L243M,L562F,P432L,R282H,R292Q,R436C,R499W,R573H,S332N,V196I,V381I,V565I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4059 4812 hgmd205;pmd622.1;pmd2524.1;pmd3403.1;pmd4000.2;sw1725;evn566;dbsnp20218;hgmd0613_38 NP_000046;CHLE_HUMAN;NP_000046.1 "A229T,A356D,A55D,A55G,D198E,E488K,F49L,F502L,F56I,I23V,I384V,K295R,L153F,L335P,N124Y,N443H,P128S,P297S,P320L,P65S,Q546L,R414C,S226G,S517R,S552L,T312S,T52M,T593A,T6S,W499R,Y156C,Y61C" "1,1,0,0,1,1,0,1,1,0,0,1,1,1,1,0,1,0,0,1,1,1,1,0,0,0,1,0,0,1,1,1" 590 5109 hgmd206;pmd613.1;pmd615.1;sw2099;evn285;dbsnp11889;hgmd0613_476 NP_000700;ODBA_HUMAN;NP_000700.1 "A222T,A253T,F409C,G290R,I326T,I361V,I62M,L13P,N150D,N71S,P39H,P39R,Q190K,Q27R,Q357R,Q42R,R159W,R388K,R399Q,Y413C,Y438N" "0,1,1,1,1,0,0,0,0,0,0,0,1,0,0,0,1,0,0,1,1" 593 7661 hgmd207;pmd612.2;pmd614.2;pmd616.2;sw2506;dbsnp25421;dbsnp25422;hgmd0613_2448 NP_898871;ODBB_HUMAN;NP_000047.1;NP_898871.1 "D82G,G109R,G278S,H206R,K211N,Q346R,R170H,R183P,T41I" "0,0,1,1,0,1,1,1,0" 594 8744 hgmd208;sw10456;dbsnp7786;hgmd0613_1822 NP_059125;BCDO1_HUMAN;NP_059125.2 "A312G,A379V,A466G,A530T,C541Y,D176E,G317D,G472A,I324T,I324V,K200E,R161C,R228C,R266Q,R266W,R267S,R537K,T170M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 53630 5878 hgmd209;evn682;dbsnp29865;dbsnp29866;hgmd0613_1841 NP_060215;NP_001116855.1;NP_060215.4 "A1070T,A161V,A1716V,G1140D,G1255C,G677E,G81E,L808H,M1541T,N1556S,P1116S,P1406S,P780T,P838S,R1089L,R1234G,R763L,R763Q,S1166F,S209L,S609T,T1066A,T75S,T773A,T877S,V1084A,V1138A,V1252M,V137I,V1620L,V821M,V842A,Y234C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54880 582 hgmd20;pmd567.2;sw2927;dbsnp29898;hgmd0613_17 NP_000024;ABCD1_HUMAN;NP_000024.2 "A141T,A294T,A616V,A626D,A626T,A646P,A99D,C631Y,C88W,D194H,D200N,D200V,D221G,D629H,D638Y,E271K,E291D,E291K,E302K,E609G,E609K,E630G,E640K,E90K,F540C,F540S,G116R,G266E,G266R,G277W,G298D,G343D,G343S,G446R,G507V,G512S,G522W,G529S,G608D,G614S,G677D,H667D,K217E,K276E,K336M,L107P,L190P,L211P,L220P,L229P,L253V,L322P,L503P,L516P,L523F,L654P,M566K,N13T,N148S,N214D,P143S,P218T,P263L,P484R,P534L,P543L,P560L,P560R,P560S,Q178E,Q544R,Q556R,R104C,R104H,R113C,R113P,R152C,R152L,R152P,R152S,R163H,R163P,R182P,R189W,R274W,R280C,R285P,R389G,R389H,R401Q,R401W,R418W,R464Q,R518Q,R518W,R554H,R591P,R591Q,R591W,R617C,R617G,R617H,R660P,R660Q,R660W,S103R,S108L,S108W,S149N,S161P,S213C,S342P,S514R,S515F,S552P,S606L,S606P,S633I,S633R,S636I,S98L,T105I,T105P,T198K,T198R,T254M,T254P,T632I,T632P,T668I,T693M,V201M,V224E,V582I,V583E,V635M,W339R,W679R,Y174C,Y174D,Y174S,Y181C,Y296C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,0,1,1,1,1,1,1,1,1" 215 3656 hgmd210;pmd1055.1;pmd1056.2;pmd1057.3;pmd1058.1;pmd1403.3;sw11733;evn774;dbsnp19164;dbsnp19165;dbsnp19166;dbsnp19167;dbsnp19168;hgmd0613_1184 NP_004319;BCS1_HUMAN;NP_001073335.1;NP_004319.1;NP_001244271.1;NP_001244272.1;NP_001244273.1 "D210N,F368I,G35R,N332K,N379D,P274L,P274R,P99L,Q302E,R109Q,R109W,R114W,R144Q,R155P,R183C,R183H,R184C,R306H,R45C,R73C,S259P,S259T,S277N,S78G,T50A,V327A,V334I,V353M,V36A" "0,1,1,0,0,0,0,1,1,0,0,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,1,0" 617 8167 hgmd211;sw1148;dbsnp1763;hgmd0613_1167 NP_004174;BEST1_HUMAN;NP_004174.1 "A10T,A10V,A146K,A195V,A243T,A243V,A357V,C221W,D104E,D104H,D228N,D301E,D301N,D302G,D302H,D302V,D303E,D312N,E119Q,E300D,E300K,E306D,E306G,E525A,E557K,E578V,F113L,F17C,F276L,F298S,F305S,G135S,G222V,G26R,G299A,G299E,I201T,I205T,I295T,I310T,I3T,I73N,K30R,L100R,L140R,L140V,L21V,L224M,L224P,L294V,L41P,L567F,L67V,L82V,M325T,M360I,M524T,N11I,N133K,N296H,N296S,N308S,N99K,P101T,P152A,P297A,P297S,Q293K,Q58L,Q96H,R105C,R13H,R141H,R218C,R218H,R218Q,R218S,R25Q,R25W,R47H,R92C,R92H,R92S,S16F,S209N,S231R,S27R,S507P,T216I,T237R,T241N,T307A,T307I,T363P,T410I,T561A,T6P,T6R,T91I,V235L,V235M,V239M,V242M,V275I,V311G,V317M,V492I,V86M,V89A,V9A,V9M,W102R,W24C,W93C,Y227C,Y227N,Y236C,Y29H,Y85H" "1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 7439 5093 hgmd212;sw4520;dbsnp21397;hgmd0613_1079 NP_003562;BFSP2_HUMAN;NP_003562.1 "A407D,E289K,R287W,R318S" "0,0,1,0" 8419 8270 hgmd213;sw9988;hgmd0613_2121 NP_110389;BHE41_HUMAN P384R 1 79365 6960 hgmd214;sw356;evn102;dbsnp19493;hgmd0613_2294 NP_647593;BIN1_HUMAN;NP_647593.1 "D151N,G269S,K35N,K542R,N232K,R336W,R514C,R581C,T532M,T532R,V239I,V494M" "1,0,1,0,0,0,0,0,0,0,0,0" 274 5221 hgmd215;sw3496;sws419;dbsnp27969;hgmd0613_812 NP_001706;BLK_HUMAN;NP_001706.2 "D59E,F112S,I308V,K325T,P225L,P39L,P9L,R131W,R192G,R238Q,R295W,R359C,R450H,R75G,S24R,T48I,V63M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 640 5941 hgmd216;sw3630;dbsnp6561;hgmd0613_39 NP_000048;BLM_HUMAN;NP_000048.1 "A1043D,C1036F,C1055S,C878R,C901Y,E1213K,E140G,G891E,H1014R,I841T,K1133E,K137R,K323R,K755E,N534S,P707S,P868L,Q672R,R15C,R591Q,R643H,R791C,R85T,S1209T,S33L,S778C,T298M,T843I,V1198M,V1205I,V1321I,V4A" "0,1,1,1,1,0,0,1,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 641 958 hgmd217;sw1406;dbsnp30352;hgmd0613_1368 NP_005439;BMP15_HUMAN;NP_005439.2 "A180F,F194S,H200Y,I243V,L148P,N103S,N196K,N288D,R138H,R206H,R244Q,R329C,R354W,R61Q,R68W,R76C,R76H,V16M,W221R,Y137N,Y235C" "0,0,0,1,1,0,1,0,1,1,0,1,0,1,1,1,1,0,1,0,1" 9210 8745 hgmd218;sw2097;evn582;dbsnp5423;dbsnp5424;dbsnp5425;hgmd0613_735 NP_001193;BMP4_HUMAN;NP_001193.2;NP_570911.2;NP_570912.2 "A346V,A42P,E93G,G168A,N150K,R162Q,R287H,S298P,S76R,S91C,T102A,T116S,V152A,V205I" "1,0,1,1,1,1,1,0,0,1,1,1,0,0" 652 8421 hgmd219;sw2350;evn570;dbsnp16718;hgmd0613_813 NP_001710;BMP7_HUMAN;NP_001710.1 "A316T,G96S,L198P,N321S,R267Q,R327K" "0,0,1,0,0,0" 655 6426 hgmd21;pmd566.1;sw2705;spmut27;evn23;dbsnp15347;hgmd0613_987 NP_002849;ABCD3_HUMAN;NP_002849.1 "A169S,G17D,G41E,G52V,H36Q,I68A,I68T,K253R,L127F,M639V,R464Q,S318N,V454I" "0,1,0,0,0,0,0,0,0,0,0,0,0" 5825 4488 hgmd220;sw3049;sws352;evn787;dbsnp706;hgmd0613_1185 NP_004320;BMR1A_HUMAN;NP_004320.2 "A338D,C124R,C130R,C376Y,C82Y,D40N,E415K,I164V,M470T,N25I,P2T,R20H,R443C,R478H,R9S,V450M,Y62D" "1,1,1,1,1,0,0,0,1,0,0,0,1,0,0,0,1" 657 6095 hgmd221;sw307;sws7;evn660;dbsnp22412;dbsnp22413;dbsnp22414;hgmd0613_736 NP_001194;BMR1B_HUMAN;NP_001194.1;NP_001243721.1;NP_001243723.1 "A298T,A6T,I200K,L64M,L9I,M220L,R126K,R149W,R224H,R371Q,R486Q,R486W,R4Q,S175P,V140I,V29I" "0,0,1,0,0,0,0,0,0,0,1,1,0,0,0,0" 658 6095 hgmd222;sw4581;evn1071;dbsnp18427;hgmd0613_737 NP_001195;BMPR2_HUMAN;NP_001195.2 "A162T,A714S,A917T,A924V,C117Y,C118W,C123R,C123S,C169Y,C347Y,C420R,C483R,C60Y,D485G,E224D,G182D,G919V,G963C,K512T,L831P,N29S,N519K,Q82H,R225H,R491Q,R491W,R584L,R886C,R899P,R983Q,S522T,S953I,T23I,T642A,T726A,V429I,V788I" "0,0,0,0,1,1,1,1,0,1,1,1,1,1,0,1,0,0,1,0,0,1,1,0,1,1,0,0,1,0,0,0,0,0,0,0,0" 659 1945 hgmd223;pmd1711.1;pmd1712.1;pmd1713.1;pmd1714.1;pmd2523.1;pmd3402.1;sw1788;evn930;dbsnp26599;dbsnp26600;hgmd0613_2478 NP_954655;PMGE_HUMAN;NP_001715.1;NP_954655.1 "D237A,N61T,Q134H,Q238P,R179H,R62Q,R90C" "0,0,0,0,0,1,1" 669 11715 hgmd224;sw2202;sws237;spmut229;evn38;dbsnp26782;hgmd0613_1186 NP_004324;BRAF_HUMAN;NP_004324.2 "A17S,A246P,D594G,E275K,E501G,E501K,E586K,F468S,G464E,G464V,G466A,G466E,G466V,G469E,G469R,G596V,I463S,K499E,K499N,K51R,K601E,K601Q,L245F,L485F,L525P,L597V,L99F,N580D,N581D,P301S,Q257R,Q262K,Q709R,R462I,S467A,T241M,T241P,T241R,T244P,T599R,V600D,W531C" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" 673 3464 hgmd225;pmd526.1;pmd608.1;pmd609.2;pmd647.1;pmd648.2;pmd1363.1;pmd1405.3;pmd1406.4;pmd1407.5;pmd3778.1;pmd3779.2;pmd4628.1;pmd4629.1;pmd4630.2;sw3074;sws355;spmut231;dbsnp8584;hgmd0613_1589 NP_009225;BRCA1_HUMAN;NP_009225.1 "A1623G,A1641P,A1669S,A1708E,C1697R,C24R,C39Y,C61G,C64G,C64Y,C994R,D1692N,D693N,D749Y,E1038G,E1060A,E10K,E1210G,E1219D,E1250K,E227K,E23K,E842G,F1226L,F1662C,F461L,F989S,G1706E,G1738R,G1788V,G275S,G552V,G960D,H1195R,H1860P,H239R,H835Y,H888Y,I1766S,I21V,I379M,I925L,K1183R,K1207N,K1406N,K1606E,K1690Q,K820E,L1407P,L1564P,L1764P,L1786P,L22S,L892S,M1008I,M1411T,M1628T,M1628V,M1652I,M1689R,M1775K,M1775R,M18T,N1236K,N656I,N723D,P1106S,P1150S,P1637L,P1749R,P1776S,P1812S,P346S,P871L,Q1200H,Q1857H,R1204I,R1243G,R1347G,R1443G,R1443Q,R1495M,R1699Q,R1699W,R1751Q,R256M,R507I,R71G,R71K,R841W,R866Q,S1040N,S1139I,S1140G,S1187I,S1217Y,S1297P,S1431P,S1512I,S153R,S1613G,S1715N,S1715R,T1025I,T1561I,T1620A,T1685A,T1685I,T826K,V1047A,V11A,V1646D,V1713G,V271M,V772A,Y465D,Y856H" "1,1,1,1,1,1,1,1,1,1,0,1,0,1,0,0,1,1,1,0,1,1,0,1,0,1,0,1,1,1,1,1,1,0,0,0,1,1,1,1,1,0,0,1,0,1,1,0,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,0,1,0,1,1,1,1,1,1,0,1,0,1,1,0,0,0,1,1,1,1,0,1,1,1,1,1,0,1,0,1,1,1,0,0,0,0,1,1,1,1,0,1,0,1,1,1,0,0,1,1,1,1" 672 500 hgmd226;dbsnp4916;hgmd0613_40 NP_000050;NP_000050.2 "A2770D,C341R,D1990A,D3341E,E2956Q,G1938A,I1583V,I2719T,K1678T,K2162R,K513R,L2587F,L2898S,N2447D,S1760A,S2536P,S599F,S976F,S976T,T1915M,V1542M,V1988I,Y688C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 675 108 hgmd227;evn984;dbsnp9238;hgmd0613_2152 NP_114432;NP_114432.2 "A144T,A349S,E1126D,F531V,G1024R,H285R,I633M,I746V,K297R,L195P,N1219K,P210S,P696L,Q740H,Q867K,R106H,R173C,R264W,R579C,S215Y,S919P,V193I,V911M,V935G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83990 1282 hgmd228;dbsnp30501;hgmd0613_2357 NP_694984;NP_694984.4 "D1249N,G1693V,G910A,N695D,R1292Q,R717W,T1595I,V1636I,V257I" "0,0,0,0,0,0,0,0,0" 254065 298 hgmd22;sw10152;dbsnp18733;hgmd0613_2027 NP_071881;ABCG5_HUMAN;NP_071881.1 "A478T,A98G,C600Y,E146Q,F624L,G27A,G582R,G79R,I523V,K262I,K262R,L391F,M622V,N410H,N437K,Q604E,R198Q,R389H,R419H,R419P,R50C,R50G,R550S,R61Q,T388M,T517S,V17G,V232I,V47F,V640A" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,1,1,1,0,0,1,0,0,0,0,0,0,0" 64240 4577 hgmd230;sw8505;spmut238;dbsnp14920;hgmd0613_2229 NP_476517;BSND_HUMAN;NP_476517.1 "E255Q,E291G,G10S,G284D,G47R,R176H,R8L,R8W,V43I" "0,0,1,0,1,0,1,1,0" 7809 10387 hgmd231;sw3212;dbsnp20957;hgmd0613_41 NP_000051;BTD_HUMAN;NP_000051.1 "A171T,C33F,D228Y,D444H,D543E,F128V,G451D,G45R,G8D,H323R,H43R,I294V,I68V,Q456H,Q88E,R538C,T532M" "1,0,1,1,0,1,1,1,0,1,0,0,0,1,0,1,1" 686 5937 hgmd232;pmd619.1;pmd620.1;pmd621.2;pmd1173.3;pmd1174.4;pmd1175.5;pmd1176.6;pmd3150.1;pmd3151.1;pmd3890.1;pmd4306.1;sw4185;sws513;spmut241;evn62;dbsnp30231;hgmd0613_42 NP_000052;BTK_HUMAN;NP_000052.1 "A207T,A209S,A508D,A523E,A582V,A607D,A622P,C154S,C155G,C155R,C502F,C502W,C506R,C506Y,C633Y,D239N,D308E,D521G,D521H,D521N,D639N,E240D,E445D,E567K,E589D,E589G,E589K,F25S,F559S,F583S,F644L,F644S,G302E,G302R,G414R,G462D,G462V,G594E,G613D,H35Q,H362Q,H364P,I370M,I429N,I61N,I646V,K12R,K19E,K27R,K430E,K430R,K625R,L11P,L295P,L358F,L369F,L408P,L512P,L512Q,L518R,L542P,L647P,L652P,M477R,M509V,M587L,M630I,M630K,M630T,N365Y,N526K,P619A,P619S,P619T,Q127H,R236Q,R288Q,R288W,R28C,R28H,R28P,R307G,R307K,R307T,R372G,R520Q,R525G,R525P,R525Q,R544G,R544K,R562P,R562W,R641C,R641H,R82K,S115F,S14F,S366F,S578Y,S592P,T117P,T184P,T33P,V113D,V319A,V535F,V626G,V64D,V64F,W563L,W581R,Y334S,Y361C,Y39S,Y40C,Y40N,Y418H,Y476D,Y598C" "0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 695 4489 hgmd233;dbsnp6450;hgmd0613_738 NP_001202;NP_001202.4 "A335P,A335T,A784V,E390D,G929S,I909T,L258F,N1004S,N1032H,N269D,P334L,P544S,S797A,T471M,V4M,V618A" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 701 1894 hgmd234;sw9369;dbsnp798;hgmd0613_1998 NP_068602;PEO1_HUMAN;NP_068602.2 "A145V,A318T,A359T,A362P,A460P,A475D,A475P,E427G,E479K,F370C,F370L,F478I,G212R,G230V,G348R,I367T,K319E,K319T,K566R,L267V,L360G,L381P,L456V,L81V,N634K,P335L,Q458H,R303Q,R303W,R334P,R334Q,R354P,R357P,R371Q,R374Q,S369P,S369Y,S426N,T457I,W315L,W315S,W363L,W474C,W474S,Y508C" "0,1,1,1,1,1,1,0,1,1,1,1,0,0,0,1,1,1,0,0,1,1,1,0,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1" 56652 4223 hgmd235;dbsnp8002;hgmd0613_2077 NP_078874;NP_078874.2 "C214Y,I171T,M262V,N257K,Q250E,R112Q,R115K,R245H,S36G" "0,0,0,0,0,0,0,0,0" 79650 11577 hgmd236;sw1578;sws164;dbsnp15025;hgmd0613_400 NP_000482;C1QB_HUMAN;NP_000482.3 "A106V,G42D,G75R,N203Y,R136W,V182M" "0,1,0,0,0,0" 713 11834 hgmd237;sw1579;dbsnp13242;dbsnp13243;hgmd0613_2384 NP_758957;C1QC_HUMAN;NP_758957.2;NP_001107573.1 "A142T,G149R,G34R,V187I" "0,0,1,0" 714 11834 hgmd238;sw9799;evn875;dbsnp2995;hgmd0613_1766 NP_056460;C1QT5_HUMAN;NP_056460.1 "D79E,N131K,Q44R,R114Q,S163R,V115L" "0,0,0,0,1,0" 114902 12048 hgmd239;sw1912;evn1126;dbsnp3293;dbsnp3294;hgmd0613_2483 NP_958850;C1S_HUMAN;NP_001725.1;NP_958850.1 "A227V,A231E,A307V,D315N,G360V,N466D,Q30E,R119H,R383H,S265N,S34G,T684N,T77S,V312I,V327L,V600M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 716 4181 hgmd23;sw10151;evn125;dbsnp18737;hgmd0613_2028 NP_071882;ABCG8_HUMAN;NP_071882.1 "A259V,A549T,A550T,A573T,A642T,C80S,C80Y,D19H,D237E,D33N,D636N,E238K,G574E,G574R,G575R,L501P,L52V,L572P,L596R,M429L,M429V,M655V,P231T,P387L,R164Q,R184H,R263Q,R354C,R405H,R543S,S32G,T365A,T365M,T400K,T400R,T401S,T488N,V210M,V225E,V632A,V632G,V632I,Y479C,Y480C,Y641F" "0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,1,0,1,1,0,0,0,1,0,0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64241 4335 hgmd240;sw1733;dbsnp24975;hgmd0613_44 NP_000054;CO2_HUMAN;NP_000054.2 "A160S,A160T,A472T,C131Y,D511N,F533L,G464R,I484V,K526R,K646R,N310S,P724L,R205H,R593Q,R734C,R734L,R88C,S209F,S250C,S637R,T184M,T222A,V641A" "0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 717 3590 hgmd241;sw10638;dbsnp16328;hgmd0613_2209 NP_212134;S52A3_HUMAN;NP_212134.3 "D174G,E289K,E36K,F224L,F457L,I303V,I74M,L350M,P267L,R132Q,R132W,R268Q,S411R,T278M,V310I,V413A" "0,0,1,1,1,0,0,0,0,0,1,0,0,0,0,1" 113278 7215 hgmd242;sw5702;evn680;dbsnp16396;hgmd0613_2057 NP_077025;NDUF5_HUMAN;NP_077025.2 "A21V,K109N,L159F,L229P,L337F,N150S,P340L" "0,0,1,1,0,0,0" 79133 9783 hgmd243;pmd1950.2;pmd2376.1;pmd2485.1;pmd4008.1;sw1480;spmut397;dbsnp11072;hgmd0613_45 NP_000055;CO3_HUMAN;NP_000055.2 "A1094V,A1460G,A482T,C1158W,D1115N,D1216N,D1440A,D1457H,D337E,D549N,E1641G,E469D,F603V,G1044R,G1224D,G1267C,G1267R,G542D,H1464D,H1601N,I1367T,I1385N,I348V,I625F,K1551N,K155Q,K607E,K633R,L1549M,L324F,L9P,N1556S,P314L,Q1161K,Q1521R,R102G,R1042L,R1320Q,R1491W,R592Q,R592W,R735W,R863K,S1619R,S452T,V619M" "1,0,0,1,1,0,0,0,0,1,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,1,0,1,1,1,0,0,0,0" 718 675 hgmd244;dbsnp24853;hgmd0613_542 NP_001002029;NP_001002029.3 "L1120I,N1216S" "0,0" 721 594 hgmd245;sw1618;dbsnp14169 NP_000706;C4BPA_HUMAN;NP_000706.1 "A60V,E539Q,G196S,G423E,I224T,I300T,L33V,P4A,P4Q,R485Q,V226I,W473L,Y357H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 722 5167 hgmd246;sw1481;evn510;dbsnp28382;hgmd0613_814 NP_001726;CO5_HUMAN;NP_001726.2 "A1010V,A1155T,A1524T,A1545T,D1037N,D494E,D966Y,E1011D,E1437D,E684G,E904G,F518S,G803A,G933V,H110N,H473R,I1033T,I1402V,I725V,K1119R,L354M,L4F,L571V,M1053L,P722L,Q1043K,R116K,R1214K,R1246H,R1308C,R449G,R449W,R928Q,S1310N,T1257S,T1607S,T22I,T389I,T429K,T678M,T807N,V1365A,V1365F,V145I,V777I,V802I,W1077L,W1106G,W917S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 727 665 hgmd247;sw2004;evn627;dbsnp23143;hgmd0613_460 NP_000578;CO7_HUMAN;NP_000578.2 "A840V,C128R,E374D,E682Q,F32S,G379R,G662D,K420Q,L605V,P126T,Q730R,R220Q,R222C,R222H,R294S,R48H,R521S,R618W,R687C,R687H,R733I,R88C,S389T,T587P,T598S,V64A,V657I" "0,0,0,1,0,1,0,0,0,0,0,1,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0" 730 2936 hgmd248;evn794;dbsnp27114;hgmd0613_2085 NP_079004;NP_079004.1 "A212V,G236D,I139V,R230H,T405M,V366I,Y310H" "0,0,0,0,1,0,0" 79783 7195 hgmd249;sw8125;sws906;spmut1267;evn835;hgmd0613_2273 NP_619646;MPLKI_HUMAN;NP_619646.1 "M144V,P16S,P38L" "1,0,0" 136647 13369 hgmd24;sw8342;evn20;dbsnp20421;hgmd0613_1783 NP_057090;ABHD5_HUMAN;NP_057090.2 "E260K,E7K,F68L,G14E,H82R,I135V,I32T,I72T,Q130P,R114L,R56H,S115G,S33L" "1,1,0,0,1,0,0,0,1,0,0,1,0" 51099 9676 hgmd250;sw5193;evn52;dbsnp28037;hgmd0613_2337 NP_689629;NDUF6_HUMAN;NP_689629.2 "F230L,L90V,Q99R,V280I" "0,0,1,0" 137682 10062 hgmd251;pmd2970.1;sw1580;dbsnp23082;hgmd0613_815 NP_001728;CO9_HUMAN;NP_001728.1 "A325V,A529T,C119G,D127Y,D80N,F338L,G102R,I203V,I476M,I476T,M45L,M484K,P141T,P167S,R118W,R5W,S427T,T109I,T20P,T279S" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 735 5694 hgmd252;sw1470;evn242;dbsnp27773;dbsnp27774;dbsnp27775;dbsnp27776;dbsnp27777;hgmd0613_816 NP_001729;CAH1_HUMAN;NP_001122301.1;NP_001729.1;NP_001122302.1;NP_001122303.1;NP_001158302.1 "A143V,A167V,G254R,H68R,M242V,P196L,S131N,T101K,T184A,V121I" "0,0,1,1,0,0,0,0,0,0" 759 11646 hgmd253;pmd72.1;pmd651.1;pmd652.1;pmd662.2;pmd1952.1;pmd2064.1;pmd2121.1;pmd2122.1;pmd2123.1;pmd2124.1;pmd2195.1;pmd2452.1;pmd2712.1;pmd2713.1;pmd2714.1;pmd2715.1;pmd2716.1;pmd2717.1;pmd2718.1;pmd2719.1;pmd2720.1;pmd2721.1;pmd2722.1;pmd2723.1;pmd3539.1;pmd3540.1;pmd3688.1;pmd3689.1;pmd3895.1;pmd4314.1;sw1471;spmut258;hgmd0613_46 NP_000058;CAH2_HUMAN "G144R,H107Y,H94Y,K18E,N252D,P236H,Q92P" "1,1,1,0,0,0,1" 760 11646 hgmd254;pmd3541.1;sw2546;spmut260;dbsnp8932;hgmd0613_477 NP_000708;CAH4_HUMAN;NP_000708.1 "K192R,L205F,P290L,Q254P,R14W,R219S,V233L,V237L" "0,0,0,0,1,1,0,0" 762 10600 hgmd255;sw2956;evn75;dbsnp28186;hgmd0613_1148 NP_004047;CAH8_HUMAN;NP_004047.3 "E18D,E24D,I242V,S100L,S100P,T10S,T88S,V91I" "0,0,0,0,1,0,0,0" 767 11089 hgmd256;sw8108;evn30;dbsnp13786;hgmd0613_1931 NP_064632;ADCK3_HUMAN;NP_064632.2 "D100Y,E551K,G272D,G272V,G549S,G73D,G88V,H80Y,H85Q,I341T,P602Q,P602R,R213W,R626C,S106P,S460G,V23M,Y330C,Y514C" "0,1,1,1,1,0,0,0,0,0,0,0,1,0,0,0,0,0,1" 56997 4612 hgmd257;sw12069;spmut250;evn586;dbsnp17585;dbsnp17586;hgmd0613_1622 NP_036427;CABIN_HUMAN;NP_001186210.1;NP_036427.1 "A56T,A650T,D1749N,D220N,D2212E,D225N,G2070R,G496S,G775S,H1235D,I1118V,I1976S,K1410N,L816F,M314K,N1055K,P1981L,P2091S,P2096S,P309S,P840A,P874S,Q1990E,Q2068R,Q921E,R1243H,R1617Q,R1747W,R1775Q,R190W,R1958W,R660S,R665W,R853Q,S1416N,S227W,S325R,S517R,S66R,T649I,T731I,V1173M,V1941E,V2185M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23523 331 hgmd258;sw3775;dbsnp3075;hgmd0613_2315 NP_660201;CABP4_HUMAN;NP_660201.1 "D260N,G17A,R100H,R124C,R152Q,R18H,R52Q,R94H,T202M" "0,0,0,1,0,0,0,0,0" 57010 11360 hgmd25;sw11499;evn693;dbsnp3011;hgmd0613_1687 NP_055199;ACAD8_HUMAN;NP_055199.1 "A290T,A320T,D134Y,E139G,G137R,I200V,I215F,I91V,M128I,M152T,Q385R,R302Q,R334C,S135T,T318K,V203I,V388M" "0,1,1,0,1,0,0,0,1,1,1,1,1,0,0,1,0" 27034 8269 hgmd260;sw898;dbsnp29738;hgmd0613_1324 NP_005174;CAC1F_HUMAN;NP_005174.2 "A1259T,A1270T,A472V,A928D,C1499R,C74R,F753C,F940V,G1018R,G1405S,G150R,G1684W,G1694E,G261R,G369D,G674D,G933S,I756T,L1079P,L1375H,L1508P,L860P,M1222I,N746T,P14L,P1500R,Q1811K,R1060L,R1060W,R1141H,R1930H,R302C,R385L,R523H,S1189F,S229P,T693N,V1343I,V1902A,V635I" "0,0,0,1,1,1,1,0,1,0,1,0,0,1,1,1,0,1,1,1,1,1,0,0,0,1,0,0,1,0,0,0,0,0,0,1,0,0,0,1" 778 345 hgmd261;dbsnp9525;hgmd0613_1904 NP_061496;NP_061496.2 "A1099T,A1224T,C644Y,L440V,N527S,T1609P,V160I,V1798F" "0,0,0,0,0,0,0,0" 8913 274 hgmd262;sw1241;dbsnp7399;hgmd0613_1982 NP_066921;CAC1H_HUMAN;NP_066921.2 "A1097T,A1896V,A1966V,A2115V,A332T,A748V,C456S,D1463N,D1910E,D2131N,E1974G,E282K,F161L,G499S,G647S,G755D,G773D,G784S,G848S,H1827Y,M313V,P2173S,P618L,P640L,P648L,P684S,Q1288L,Q163H,R1479S,R1871Q,R1892L,R2060H,R2077H,R434W,R505C,R506G,R506W,R603K,R744Q,S1975F,V126I,V464G,V663M,V664A,V812M,V831M" "0,0,0,0,0,1,1,1,0,0,0,1,1,1,0,1,1,1,1,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1" 8912 283 hgmd263;sw4561;dbsnp13462;hgmd0613_47 NP_000060;CAC1S_HUMAN;NP_000060.2 "A1271T,A450T,A69G,A814T,D389V,D998N,E1583K,E1840D,F434S,G1136S,G1210R,G258D,G258V,K88E,L1800S,L458H,M827T,P1839S,P630L,Q1142P,R1086H,R1239G,R1239H,R1539C,R1652C,R1658C,R1658H,R498H,R498L,R528G,R528H,R683C,R789C,R897S,R900S,R986H,S177L,S1857N,S516L,S606N,T128S,T1354S,V571I,W1112G,Y1334C,Y1670N,Y299H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,0,0,0,0,1,1,0,0,1,1,0,0,0,0,0,0,1,0,0,0,0,0" 779 345 hgmd264;evn637;dbsnp934;hgmd0613_2485 NP_963884;NP_963884.2 "D538E,D601E,E464A,E464D,I171V,R552G,R552W,R605C,S143F,S160T,S489G,S503L,S503W,T450I,V514I" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 783 4481 hgmd265;pmd1412.1;sw321;evn995;dbsnp19434;hgmd0613_480 NP_000717;CACB4_HUMAN;NP_000717.2 "A12V,C104F,I450V,K8R,P15S,S189F,S495T,T499A,Y6H,Y6S" "0,1,0,0,0,0,0,0,0,0" 785 4481 hgmd266;sw9848;evn256;dbsnp2789;hgmd0613_1680 NP_055148;CADM1_HUMAN;NP_055148.3 "D154Y,D285E,F386V,I354T,T336I,V4A" "0,0,0,0,0,0" 23705 7718 hgmd267;evn661;dbsnp11881;hgmd0613_1187 NP_004334;NP_004334.1 "A17G,D165G,D31G,D384E,E398K,S189T,V16A,V176M,Y57C" "0,0,0,0,0,0,0,0,0" 811 8226 hgmd268;sw9102;dbsnp11788;hgmd0613_2312 NP_659483;CALR3_HUMAN;NP_659483.2 "D248G,D284N,K207E,K82R,L8F,N42S,R356L,T283I,V274I,W275C" "0,0,0,1,0,0,0,0,0,0" 125972 8226 hgmd269;sw8396;spmut264;dbsnp9365;dbsnp9366;dbsnp9367;hgmd0613_2277 NP_620148;CANT1_HUMAN;NP_001153245.1;NP_001153244.1;NP_620148.1 "A323T,C60S,C60Y,D355N,D366G,G23W,G391E,M375L,P299L,R19Q,R300C,R300H,V145L" "0,0,0,0,0,0,0,0,1,0,1,1,0" 124583 8556 hgmd26;pmd31.1;pmd844.2;pmd1844.1;pmd1845.1;pmd2207.1;pmd2208.1;pmd2923.1;pmd2924.1;pmd2925.1;pmd3696.1;pmd3845.1;pmd4074.1;pmd4075.1;pmd4076.1;pmd4077.1;pmd4078.1;sw2048;sws218;spmut32;evn24;dbsnp14790;hgmd0613_2 NP_000007;ACADM_HUMAN;NP_000007.1 "C116Y,C244R,E43K,G195R,G267R,G310R,H19Q,I364T,I375T,I78T,K259R,K329E,M149I,M326T,P132R,R17H,R206L,R281T,R53C,S245L,S336R,T121I,T193A,T228N,V63L,Y352C,Y67H" "1,1,1,1,1,1,0,0,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1" 34 8047 hgmd270;sw2453;spmut263;evn803;dbsnp6383;hgmd0613_48 NP_000061;CAN3_HUMAN;NP_000061.1 "A15D,A160G,A702V,A798E,C137R,D705G,D705H,D753N,D778N,D77N,E107K,E217K,E226K,E622A,F731S,G214S,G21E,G222R,G234E,G441D,G445R,G496R,G515R,G567W,H25Y,H334Q,H774D,I162L,I241V,I502T,I777V,K487N,L182Q,L189P,L484M,N195S,N195T,P183L,P26L,P319L,P345L,P39S,P78T,Q486E,Q638P,R118G,R242K,R437C,R440W,R448C,R448G,R448H,R489Q,R489W,R490Q,R490W,R493Q,R493W,R541Q,R548H,R572Q,R572W,R655W,R698P,R748Q,R769Q,S215P,S479G,S606L,S744G,S86F,T232I,V320F,V354G,V4I,V555I,W360C,Y274C,Y336N" "0,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,0,1,1,1,1,1,0,1,0,1,1,1,0,1,0,0,1,1,1,0,0,1,1,1,0,0,0,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1" 825 3083 hgmd271;sw4988;evn440;dbsnp23657;hgmd0613_1179 NP_004282;CART_HUMAN;NP_004282.1 "E32K,L113M,L61F,S66T,V69I" "0,0,1,0,0" 9607 14448 hgmd272;evn71;dbsnp30517;hgmd0613_1096 NP_003679;NP_003679.2 "A904D,D760E,E421D,E474A,F48C,I876V,P730T,R430H,R761Q,T573I,V905I" "0,0,0,0,0,0,0,0,0,0,0" 8573 2452 hgmd273;dbsnp18341;hgmd0613_2192 NP_116759;NP_116759.2 "L522I,P501L" "0,1" 843 6247 hgmd274;evn321;dbsnp18176;hgmd0613_740 NP_001219;NP_001219.2 "C106Y,E307Q,K201R" "0,0,0" 841 6024 hgmd275;sw489;evn620;dbsnp14119;hgmd0613_741 NP_001223;CASQ2_HUMAN;NP_001223.2 "D307H,E377D,F189L,H244R,H244Y,L167H,N335K,R33Q,T66A,V76M" "1,0,1,0,0,1,0,1,0,0" 845 8594 hgmd276;pmd643.2;sw3124;dbsnp20077;hgmd0613_321 NP_000379;CASR_HUMAN;NP_000379.2 "A116T,A843E,A986S,A988G,A988V,C129F,C131W,C562Y,C582F,C582Y,C851S,E127A,E127K,E191K,E250K,E297K,E354A,E604K,E767K,E799K,F128L,F180C,F612S,F788C,F788L,F806S,F881L,G143E,G21R,G397R,G509R,G553R,G557E,G623D,G670E,G670R,H429Y,I555V,I686V,K225T,K47N,L11S,L125P,L13P,L174R,L616V,L650P,L727Q,L773R,N118K,N592S,N996T,P221L,P221Q,P339T,P39A,P951T,Q1011E,Q27R,Q681H,Q957R,R185Q,R227L,R227Q,R383S,R465Q,R544Q,R62M,R66C,R795W,R886W,R898Q,R990G,S171N,S271F,S380R,S820F,T100I,T138M,T14A,T151M,V689M,V697M,V728F,W742R" "1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,0,1,1,0,1,1,1,0,1,0,1,1,1,1,1,0,1,0,0,1,1,1,0,1,1,1,1,0" 846 1759 hgmd277;evn81;dbsnp1543;hgmd0613_818 NP_001743;NP_001743.1 "G390D,H209Y,H492R,I493T,L176M,L419V,P108L,R203W,R320Q,R47H,R522G,S408N,S426C,T291A" "1,0,0,0,0,0,0,0,0,0,0,0,0,0" 847 6172 hgmd278;pmd626.2;sw3734;evn695;dbsnp20062;dbsnp20063;hgmd0613_2207 NP_203123;CAV3_HUMAN;NP_001225.1;NP_203123.1 "A46T,A46V,A85T,A93T,C124S,C72W,D28E,F97C,L79R,L87P,N33K,P105L,P29L,R126H,R27Q,S141R,S53G,S61R,T64P,T64S,T78M,V14L,V44E,V57M,V82I" "1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0" 859 13394 hgmd279;sw2540;spmut279;evn132;dbsnp1840;hgmd0613_1325 NP_005179;CBL_HUMAN;NP_005179.2 "A556T,A757T,A848T,C404Y,C840W,D390Y,G816V,I744V,K382E,L620F,L892H,M647T,M649T,M649V,N754S,N863S,P608A,P687L,P782L,P846A,Q367P,R420Q,R788Q,S15G,S648R,S728T,S767P,V904I" "0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0" 867 2172 hgmd27;pmd4158.2;sw2264;evn9;dbsnp3601;hgmd0613_3 NP_000008;ACADS_HUMAN;NP_000008.1 "A138K,A13V,A16V,A192V,F54S,G108S,G209S,G90S,G92C,H64Q,R107C,R171W,R325W,R330C,R380W,R383C,R383H,R46W,S353L,T219S,V291A,W177R" "0,0,0,1,0,0,0,1,1,0,1,0,1,1,1,1,0,1,1,0,0,1" 35 8323 hgmd280;sw4428;spmut278;evn184;dbsnp20918;hgmd0613_2375 NP_733762;CBLB_HUMAN;NP_733762.2 "A155V,A901G,A927V,A945V,C373Y,H577Q,H645R,I74V,M460V,M5T,M742I,N883D,P689L,P780A,Q66L,R584K,R644H,R670Q,R964W,S622T,S761G,T471N,T798A,V581M,V880I" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 868 2172 hgmd281;pmd671.1;pmd672.1;pmd3412.1;pmd3413.1;pmd4328.2;sw2991;spmut281;evn795;dbsnp17048;dbsnp17049;dbsnp17050;hgmd0613_49 NP_000062;CBS_HUMAN;NP_000062.1;NP_001171480.1;NP_001171479.1 "A114V,A155T,A155V,A226T,A231P,A288P,A288T,A331E,A331V,A355P,A361T,A446S,A69P,C109R,C165Y,C275Y,C370Y,D198V,D234N,D281N,D321V,D376N,D444N,E128D,E131D,E144K,E176K,E239K,E302K,F99Y,G116R,G139R,G148R,G151R,G305R,G307S,G347S,G418S,G85R,H65R,I143M,I152M,I278S,I278T,I286V,I435T,K102N,K102Q,K384E,K384N,L101P,L154Q,L338P,L456P,L539S,M126V,M173V,M391I,N228S,P145L,P200L,P290L,P422L,P49L,P78R,P88S,Q526K,R121C,R121H,R121L,R125P,R125Q,R125W,R132C,R224H,R266G,R266K,R336C,R336H,R369C,R369H,R369P,R379Q,R379W,R439Q,R491C,R548Q,R58W,S32P,S349N,S352N,S466L,T191M,T257M,T262M,T262R,T353M,T430S,T434N,V168A,V168M,V180A,V320A,V354M,V358M,V371M,V425M,V454E,V512L,V534D" "1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,0,1,0,1" 875 5816 hgmd282;sw11188;evn738;dbsnp22311;hgmd0613_639 NP_001073991;C2D2A_HUMAN;NP_001073991.2 "D1556V,E1126K,E1447A,E1447D,E241K,E376A,G1095S,G225E,I961T,K507E,K800E,L1551P,M1188I,N1154T,P1122S,P612T,P721S,Q1096H,R1224W,R1528C,R153S,T1087I,T1114M,T1116M,T564K,V158I,V388I,V587A,V660I,V660L,V732I" "1,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0,1,1,0,1,0,0,1,1,0,0,0,0,0,0,0" 57545 714 hgmd283;sw6292;evn1110;dbsnp10520;hgmd0613_2257 NP_597716;CCBE1_HUMAN;NP_597716.1 "A96G,C102S,C174R,C75S,G327R,H186R,K355T,M192V,N105D,P181S,P290L,P87S,R118Q,R127Q,R158C,R167Q,R167W,R302K,T144M,V193G" "0,1,1,1,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 147372 8454 hgmd284;evn357;dbsnp22334 NP_000721;NP_000721.1 "A84S,G407R,H210Y,L20H,N102S,N299S,P175L,P33T,Q148E,R283Q,R345H,S266G,S424L,V425A,W152R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 886 7636 hgmd285;sw2892;evn402;dbsnp1776 NP_795344;GASR_HUMAN;NP_795344.1 "A419P,L133F,L344V,L37F,M73V,Q260R,R158Q,R201H,R215H,R319Q,R45C,S316P,T440I,V77G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 887 7636 hgmd286;sw9658;evn380;dbsnp26175;hgmd0613_2141 NP_113631;CCM2_HUMAN;NP_113631.1 "A171V,D110N,I372T,K6Q,K9H,L198R,L229Q,N327S,Q215H,R354K,S283G,S289N,T406M,V120I,V53I" "0,0,0,0,0,1,1,0,1,0,0,0,0,0,0" 83605 7312 hgmd287;sw3348;evn239;dbsnp23631;hgmd0613_1599 NP_036205;TCPE_HUMAN;NP_036205.1 "E146V,E351K,H147R,I362M,I374L,I507V,K25E,K496R,M29T,M485R,T337A" "0,0,1,0,0,0,0,0,0,0,0" 22948 5965 hgmd288;sw6352;sws742;evn824;dbsnp24835 NP_598000;CD109_HUMAN;NP_598000.2 "A1195V,A1391V,A836V,D112N,E1329D,F343L,F432L,F709S,F771S,G1176S,G377D,G45V,G489S,G828A,G828E,H1296R,I206V,I391V,I727V,I792S,K161T,K775T,K781N,K789E,L576P,L641F,L877Q,L966P,M1441L,N797S,P1308L,P570L,P583L,Q1390E,Q416E,R105H,R1310G,R1414C,R27Q,R760K,S796A,T1015S,T1181S,T1210M,T1232I,T1241M,T738I,T89I,V1009M,V1218A,V338A,V740A,V845I,W525C,Y420H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 135228 905 hgmd289;sw3338;dbsnp2667;dbsnp2668;dbsnp2669;dbsnp2670 NP_004348;CD151_HUMAN;NP_004348.2;NP_620599.1;NP_620598.1;NP_001034579.1 "A81T,K132R,K84N,L110V,P137S,R221S,T120M" "0,0,0,0,0,0,0" 977 11835 hgmd28;pmd4159.1;sw3251;dbsnp173;hgmd0613_794 NP_001600;ACDSB_HUMAN;NP_001600.1 "E376G,H213Q,I316V,K396T,L166F,L255F,Q165H,R13K,R151K,R239H,R239P,S209G,T148I" "0,0,0,0,0,1,0,0,0,0,0,0,1" 36 7905 hgmd290;sw2237;dbsnp13300 NP_112155;CD1E_HUMAN;NP_112155.2 "G15E,H102R,Q106R,R164W,S149N,V376I" "0,0,0,0,0,0" 913 8827 hgmd291;dbsnp18918;hgmd0613_1771 NP_056532;NP_056532.3 "A135T,A55V,E114V,E293K,K203N,K313I,P213S,Q136E,R120H,R321Q,R66Q,R84H,V119M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 50489 10186 hgmd292;sw11971;evn1087;dbsnp25333;hgmd0613_1601 NP_036252;CD2AP_HUMAN;NP_036252.1 "A185S,A558V,D448N,G406R,K55T,K633R,L331H,L445P,M496I,N581K,P394Q,R111H,R228W,R310K,S527N,T61M,T620A,V205I,V466I" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 23607 4702 hgmd293;sw2291;evn472;dbsnp25891;dbsnp25892;dbsnp25893;dbsnp25894;dbsnp25895;hgmd0613_539 NP_001001548;CD36_HUMAN;NP_000063.2;NP_001120916.1;NP_001120915.1;NP_001001548.1;NP_001001547.1 "A107P,A144T,A251S,D184N,D282N,E123K,E397K,F135L,F254L,G210E,G378V,I148V,I157V,I271T,I413L,L405M,N53S,P191L,P255L,R386W,S127L,T174A,T249A,T92R,V154F,Y348F" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 948 7160 hgmd294;pmd3161.1;sw1908;spmut306;dbsnp2075;hgmd0613_50 NP_000064;CD3G_HUMAN;NP_000064.1 "A22T,G19D,I11M,I53T,R166G,V131F" "0,0,0,0,0,0" 917 13323 hgmd295;pmd3535.1;pmd3615.1;sw2644;dbsnp16563;hgmd0613_747 NP_001241;TNR5_HUMAN;NP_001241.1 "A25S,C26Q,C83R,C8G,F158L,H78Q,I134L,I134V,P227A,S124L,S35G,S39T" "0,0,1,0,0,0,0,0,0,0,0,0" 958 11317 hgmd296;pmd1131.1;pmd3536.2;pmd3537.1;pmd3616.2;sw2764;dbsnp30102;hgmd0613_51 NP_000065;CD40L_HUMAN;NP_000065.1 "A123E,A173D,A208D,A235P,E129G,F201L,G116R,G116S,G144E,G219R,G226A,G227V,G257D,G257S,G38R,H125R,H224Y,K143T,L155P,L195P,L231S,L258S,M36R,Q174R,R11Q,R181P,R181Q,S128R,S184T,T147N,T176I,T211N,T254M,V126A,V126D,V237E,W140C,W140G,W140R,Y170C" "1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1" 959 11664 hgmd297;sw2253;dbsnp1646 NP_000601;CD44_HUMAN;NP_000601.3 "A64T,D494H,I457V,I479T,I96V,K417R,M461T,R463Q,R600H,R673Q,S109Y,S612I,S717L,T163M,T393M,T433N,T505M,T541I,V178M,V691M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 960 3680 hgmd299;sw1815;dbsnp14651 NP_000565;DAF_HUMAN;NP_000565.1 "K347E,S334F,T344I,V333I" "0,0,0,0" 1604 7774 hgmd29;pmd4198.1;pmd4199.1;sw3412;evn812;dbsnp8941;hgmd0613_4 NP_000009;ACADV_HUMAN;NP_000009.1 "A213P,A281D,A359S,A490P,D405H,D454N,E218K,E534K,E96K,F458L,G185S,G273A,G290D,G294E,G43D,G441D,G463E,G523R,H335Q,I356V,I413M,K103R,K247E,K247T,K299N,K382Q,L17F,L243R,L502P,L602I,M352V,Q159R,Q2R,R32W,R366C,R366H,R450H,R453Q,R456H,R459W,R469Q,R469W,R531W,R538Q,R613W,R615Q,R632C,S623F,T158N,T260M,V174M,V267I,V283A,V317A" "1,1,0,1,1,1,1,1,0,1,1,0,1,1,0,1,1,0,0,0,0,0,1,1,1,1,0,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,1,1,0,1,1" 37 4527 hgmd2;pmd462.2;sw10608;dbsnp17665;hgmd0613_1824 NP_059132;A4GAT_HUMAN;NP_059132.1 "G187D,M183K,M37V,P251L,Q163R,R165H,S123P,T329A" "1,1,0,1,0,0,0,0" 53947 9578 hgmd300;sw3103;evn214;dbsnp10203;hgmd0613_465 NP_000617;CD79B_HUMAN;NP_000617.1 "G137S,M67L,P86A,R113Q,R36Q,T166M" "1,0,0,0,0,0" 974 12330 hgmd301;pmd3409.1;pmd3543.2;sw1533;spmut311;evn166;dbsnp19527;dbsnp19528;hgmd0613_821 NP_001759;CD8A_HUMAN;NP_001139345.1;NP_001759.3 "A232E,D178N,G111S,H208L,L100F" "0,0,1,0,0" 925 12218 hgmd302;sw3099;dbsnp20389;hgmd0613_2462 NP_937839;TACT_HUMAN;NP_937839.1 "A142P,I151T,L212F,Q209P,Q432L,R287G,S405N,S457P,S457T,T186M,T280M,T430A" "0,0,0,0,0,0,0,0,0,0,1,0" 10225 5329 hgmd303;sw7138;dbsnp6769;hgmd0613_2269 NP_612486;CDAN1_HUMAN;NP_612486.2 "A148V,A787V,A912V,D1043V,D1045E,D612G,D888H,E698K,F868I,G657S,L1161M,L762S,N599S,P1130L,P672L,Q107L,Q596R,Q913L,R1015H,R1042W,R1065Q,R1067H,R447Q,R714W,R722C,R891C,R946W,S733R,T656S,V328I,V523I,V869M,V957I" "0,0,0,1,0,0,0,1,1,0,0,0,1,1,1,0,0,0,0,1,1,0,0,1,0,0,0,0,0,0,0,1,0" 146059 1337 hgmd304;sw6080;sws726;evn83;dbsnp14855;hgmd0613_2071 NP_078805;CDC73_HUMAN;NP_078805.3 "D379N,G449R,I18T,K150R,L384P,L512C,L63P,L64P,L95P,M1I,N272S,P341A,R513G,R91P,T373S,V276A" "1,0,0,0,0,0,1,1,1,1,1,0,0,1,0,0" 79577 6105 hgmd305;sw2105;sws226;spmut257;evn527;dbsnp7561;hgmd0613_1188 NP_004351;CADH1_HUMAN;NP_004351.1 "A408V,A592S,A592T,A634V,C695R,D244G,D370A,D72N,E336D,E463Q,E702K,E880K,F553L,H123Y,I393N,K381N,L478P,L630V,L711V,N315S,N751K,P30T,R44L,R598Q,S270A,T193P,T340A,T470I,V392I,V473D,V473I,V487A,V832M" "0,0,1,1,0,1,1,0,0,1,0,0,0,1,0,0,0,0,1,1,0,1,0,1,1,1,1,0,0,1,0,1,1" 999 2701 hgmd306;sw3700;spmut256;dbsnp7568;hgmd0613_1281 NP_004924;CAD15_HUMAN;NP_004924.1 "A122V,A246V,A37S,A746V,A790V,E200K,G21A,K584Q,L240F,L626F,P705S,R60C,R92W,V54I,V8L" "1,0,0,0,0,0,0,0,0,0,0,1,1,0,1" 1013 3115 hgmd307;dbsnp187;hgmd0613_2018 NP_071407;NP_071407.4 "A1546V,A1575T,A2797T,A3005G,A3317T,A366T,A605V,D1848N,D2376N,D428N,E2588Q,F2801V,G2017S,G2378R,I1406V,I2027M,I2027T,I2057T,L1122V,M790V,N1098S,N1282S,N1351D,Q2113L,Q58R,R1048C,R1236Q,R1349C,R1588W,R1723H,R1746W,R1840W,R1912Q,R1918Q,R2489H,R2915C,R2915H,R3020C,R323H,R3328H,S507L,T1743N,T1859I,V1004M,V1192I,V1711I,V2834I,V623I" "0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64072 111 hgmd308;sw2517;evn512;dbsnp7418;hgmd0613_824 NP_001784;CADH3_HUMAN;NP_001784.2 "D373N,G786S,L479P,M269L,M303I,M327V,N322I,P648S,Q563H,R363C,R477H,R503H,R815C,S223R,T216I,T776S,V237M,V408I,V439M,V561M" "0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0" 1001 2701 hgmd309;pmd3902.1;pmd4017.1;sw2071;sws222;spmut320;evn281;dbsnp3672;hgmd0613_52 NP_000066;CDK4_HUMAN;NP_000066.1 "G45A,H296R,H296Y,N41S,P251H,R122H,R209C,R24C,R24H,R255H,R82Q,V96I" "0,0,0,1,0,0,0,1,1,0,0,0" 1019 10235 hgmd30;dbsnp6445;hgmd0613_1637 NP_037359;NP_037359.3 "A1005T,A1213T,A1232T,A1251T,A1270T,A1289T,A1308T,A1327T,A1346T,A1365T,A1384T,A1954S,A766T,A948P,D102E,D1238A,D1238E,D1238V,D1333E,D2078Y,D2373E,E1409D,E1508A,E2423K,G1112E,G1245E,G1374R,G1849V,G2000S,G2151S,G2169E,G625C,G708S,G979V,I1765V,I2079V,L1477V,L1785V,L1855F,M1974T,P1590S,P2058L,P216L,P2257R,P864L,P913T,Q2500R,Q497L,Q659E,R2473W,R2525H,R275Q,R279Q,R502P,R542Q,R542W,R617H,R668Q,S1221G,S1240G,S1856N,S2120R,S28W,S930I,S939T,T1004A,T1023A,T1080A,T1422A,T1622A,T2038I,T2232M,T660M,V2177A,Y349C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 176 234 hgmd310;pmd633.2;spmut309;evn553;dbsnp10224;hgmd0613_1124 NP_003876;CD5R1_HUMAN;NP_003876.1 "A132S,E18D,G121V,G294S,I46L,L305I,N76S,N77T,S112N,V133L,V225I" "0,0,0,0,0,0,0,0,0,0,0" 8851 10705 hgmd311;sw1138;sws128;dbsnp29918;dbsnp29919;hgmd0613_1025 NP_003150;CDKL5_HUMAN;NP_001032420.1;NP_003150.1 "A40V,C152F,C291Y,E1005K,E1023G,E102K,F715L,H127R,I72T,L220P,L978R,P180L,P460S,P574Q,Q791P,R175S,R178P,R444C,R923C,T288I,T734A,V620L,V620M,V718M,V793A,V999M" "1,1,1,0,0,0,0,1,1,1,0,1,0,0,0,1,1,0,0,1,0,0,0,1,1,0" 6792 1979 hgmd312;pmd1306.1;sw3082;spmut326;dbsnp24609;dbsnp24610;dbsnp24611;dbsnp24612;hgmd0613_2237 NP_510867;CDN1A_HUMAN;NP_001207707.1;NP_001207706.1;NP_510867.1;NP_000380.1 "C117Y,D149G,F63L,P4L,R48Q,R67H,R67L,R84Q,R9H,S31R,T80M" "0,0,0,0,0,0,1,0,0,0,0" 1026 13640 hgmd313;sw3271;spmut327;dbsnp3649;hgmd0613_1149 NP_004055;CDN1B_HUMAN;NP_004055.1 "G177A,L193F,N173S,P69L,R15W,V109G" "0,0,0,1,0,0" 1027 12998 hgmd315;pmd1304.1;pmd4618.1;sw3189;sws368;evn413;dbsnp28772;hgmd0613_54 NP_000068;CD2A1_HUMAN;NP_000068.1 "A100L,A100P,A102T,A118T,A127S,A132P,A134V,A148T,A20P,A20S,A57V,A60T,A60V,A68L,A68T,A68V,A85T,C72G,D108H,D108Y,D125H,D14E,D74N,D74V,D74Y,D84E,D84H,D84N,D84Y,E119Q,E120A,E120K,E26D,E33D,E69G,E69K,E69V,E88D,G101W,G122R,G122S,G150V,G23D,G35A,G35E,G35V,G67R,G67S,G89D,G89S,H123Q,H142Y,H66Y,H83N,H83Q,H83Y,H98P,H98Q,I49S,I49T,L16P,L32P,L62P,L94Q,L97R,M53I,N71I,N71K,N71S,P114L,P114S,P48L,P81L,P81T,Q50R,R107C,R107H,R112G,R124C,R124H,R138G,R144C,R24C,R24P,R24Q,R58Q,R80L,R80P,R87P,R87W,R99P,R99Q,R99W,S152L,S56I,T77P,T93A,V126D,V59G,V95A" "1,0,0,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,0,1,1,1,1,0,1,1,1,1,1,1,0,0,1,1,1,1,1,1" 1029 13605 hgmd316;sw3190;dbsnp29524;hgmd0613_1282 NP_004927;CDN2B_HUMAN;NP_004927.2 "A50V,D86N,G47E" "1,0,1" 1030 13605 hgmd317;pmd96.1;pmd4619.2;sw3191;dbsnp15362;dbsnp15363;hgmd0613_749 NP_001253;CDN2C_HUMAN;NP_001253.1;NP_523240.1 "A72P,R117Q,T126M" "1,0,0" 1031 13572 hgmd318;sw10522;dbsnp5094;hgmd0613_1888 NP_060921;CENPJ_HUMAN;NP_060921.3 "A654T,C216R,D63H,D766E,E1235V,E151G,E505K,G381V,H1021Y,H96R,I1207M,K878N,K929E,L74V,M21V,N23S,P219L,P470L,P55A,P85T,Q951R,R284C,R612Q,S857R,S879A,S936G,T1218K,T1218M,T1307I,T59A,V1308I,V811D,Y341D" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55835 1086 hgmd319;sw522;evn785;dbsnp3994;hgmd0613_2100 NP_079390;CE290_HUMAN;NP_079390.3 "A1162T,A1566P,A2461P,A341T,A880S,D1177E,D1413H,D279N,D664G,E1889Q,E1893D,E2050G,E2131G,E277Q,E534K,F1435L,G2124R,G670E,H1783R,H525R,I1836V,I2000V,I2134T,I216V,I2385V,K1178N,K1800N,K636N,K838E,L1581F,L1694P,L1736V,L906W,M11V,N115D,N2228K,N2314S,Q1136H,Q1671R,Q2249R,R1237H,R1355H,R1363Q,R1384H,R1746Q,R1752Q,R2210C,R360Q,S1198A,S2263G,S494N,T412M,T574S,V1614I,V2110I,W7C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,1" 80184 249 hgmd31;sw2613;evn288;dbsnp2060;hgmd0613_5 NP_000010;THIL_HUMAN;NP_000010.1 "A301P,A333P,A380T,A5P,E406G,G152A,G183R,G379V,I115V,I312T,K343R,N158D,N93S,S10G,T297M" "1,1,1,0,0,1,1,1,0,1,0,1,1,0,1" 38 7995 hgmd320;dbsnp19223;hgmd0613_2484 NP_963842;NP_963842.1 "A197S,A67T,D81A,E488G,E53K,G232R,I519T,R105W,R435Q,R439W,S100A,S508L,S64N,T201S,V185L,V413L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375298 5720 hgmd321;pmd2725.1;pmd2726.1;pmd2761.1;sw2063;spmut344;dbsnp7279;hgmd0613_55 NP_000069;CETP_HUMAN;NP_000069.2 "A15G,A390P,D459G,E314K,G331S,L168P,R154W,R276C,R299C,R31H,R468Q,S456G,S456R,T61M,V340I,V385M,V422I,V455M,V486M,V6D" "0,0,1,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 1071 6776 hgmd322;pmd4.1;pmd2549.1;pmd4009.1;sw1466;dbsnp24286;hgmd0613_811 NP_001701;CFAB_HUMAN;NP_001701.2 "A736S,D279E,D651E,E326D,E566A,F286L,G252S,I242L,K323E,K323Q,K533R,K565E,L9H,M365I,M458I,R138Q,R203Q,R32Q,R74H,S118A,S166P,T380P,T613I,T613N,W28Q,W28R" "0,0,0,0,0,1,0,1,1,1,1,0,0,0,1,0,1,0,0,0,1,0,0,0,0,0" 629 3480 hgmd323;sw1965;hgmd0613_2170 NP_115934;CFC1_HUMAN "R112C,R189C,R78W" "1,1,1" 55997 12468 hgmd324;dbsnp13007;hgmd0613_151 NP_000177;NP_000177.2 "A892V,D130N,D485G,D693N,E936D,H577R,I1059T,I551T,K1202N,N1050Y,N1056K,N516K,Q1143E,Q950H,R1203W,R830W,S58A,S884Y,T1017I,T493R,T724K,T956M,V158I,V609I" "0,1,0,0,0,0,0,0,0,0,0,1,0,1,1,0,0,0,0,0,0,1,0,1" 3075 1332 hgmd325;dbsnp22148;hgmd0613_167 NP_000195;NP_000195.2 "A240G,A300P,A300S,E548Q,G119R,G261A,H183R,I306V,I416L,K441R,P553A,P553S,Q462H,R406H,T203I,Y22C" "1,0,0,0,1,0,1,1,1,1,0,0,0,0,0,0" 3426 5359 hgmd326;sw11736;sws1333;evn231;hgmd0613_2001 NP_068733;COF2_HUMAN;NP_068733.1 "A35T,D62A,M1L,M1R,M1T,M1V" "1,0,0,0,0,0" 1073 12992 hgmd327;sw2688;sws308;dbsnp30061;dbsnp30062;hgmd0613_965 NP_002612;PROP_HUMAN;NP_002612.1;NP_001138724.1 "D299N,G250S,G298V,P204L,Q343R,R100W,V53M,Y414D" "0,0,1,0,1,1,0,1" 5199 7216 hgmd328;sw2127;evn837;dbsnp25949;hgmd0613_401 NP_000483;CFTR_HUMAN;NP_000483.3 "A1006E,A1067T,A1067V,A120T,A1364V,A141D,A455E,A559T,A613T,A800G,C225R,C866Y,D110H,D1152H,D1202Y,D1270N,D1445N,D44G,D44V,D513G,D572N,D579G,D614G,D648V,D651N,E193K,E504Q,E822K,E826K,E92K,F1052V,F1286S,F311L,F508C,F87L,G1244E,G1249E,G1349D,G149R,G178R,G314E,G314R,G458V,G480C,G544V,G551D,G551S,G576A,G622D,G85E,G91R,H1085R,H1375N,H139R,H199Q,H199Y,H620P,H620Q,H667R,H949Y,I1005R,I105S,I1234V,I148T,I336K,I506M,I506V,I507M,I507V,I539T,I601F,I618T,I807M,K532E,K683R,L1065P,L1065R,L1077P,L138P,L206W,L320F,L346P,L467F,L558S,L571S,L610S,L619S,L633P,L967S,L997F,M1028I,M1101K,M1101R,M1137V,M244K,M348K,M952I,N1303H,N1303K,N287Y,P1013L,P1072L,P111L,P205S,P477S,P574H,P67L,P718R,P750L,Q1071P,Q1291H,Q1291R,Q1411P,Q353H,Q359K,Q637R,Q715H,Q98R,R1066C,R1066H,R1066L,R1070P,R1070Q,R1070W,R1162Q,R117C,R117H,R117L,R117P,R1283M,R170H,R258G,R297Q,R31C,R31L,R334W,R347H,R347L,R347P,R352Q,R553Q,R560K,R560T,R668C,R74Q,R74W,R75Q,R766M,R785Q,R792G,S1235R,S1251N,S1255P,S13F,S182G,S307N,S422F,S42F,S485C,S492F,S50Y,S549I,S549N,S605F,S654G,S909I,S912L,T1220I,T1380A,T338I,T351I,T351S,T438A,T665S,V11I,V1397E,V322M,V456F,V470M,V520F,V562I,V562L,V754M,W1098R,W1282R,W57G,Y1014C,Y109C,Y301C,Y563N,Y569C,Y569D,Y569H,Y903H,Y913C,Y917C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,0,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,0,1,1,1,1,1,0,1,0,1,1,1,1,1,1,0,0,0,1,0,0,1,0,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1" 1080 858 hgmd329;sw11170;spmut348;evn76;dbsnp27642;hgmd0613_1845 NP_060250;CHD7_HUMAN;NP_060250.2 "A1672V,A1950T,A1972G,A2160T,A2225T,A2259T,A2415S,A2733T,A2780V,A2789T,A99P,C1101R,C1251R,C1318R,D1791E,D1812G,D1812H,D1866G,D2097G,D728N,E1203Q,E871D,F1576C,F2750L,G1617D,G1617S,G1619V,G1684S,G1797V,G1802D,G2103D,G2108R,G2200R,G2220S,G2286A,G2330A,G2370S,G2488D,G522V,G614R,G636V,G744S,G975R,H2096R,H524P,H55R,I1028V,I1081S,I2116N,I2232V,I2725V,K1457Q,K2312T,K2464E,K2948E,K812N,K907T,L1020S,L1257R,L1292P,L1294P,L1322P,L1739R,L1815P,L2074P,L2366R,L2806V,L2984F,M2527L,M340V,M37L,M41I,N2118D,N92S,P111S,P1300Q,P1594S,P167L,P2178S,P2683S,P2880L,P369A,P439S,P558A,P692S,P86R,Q1214R,Q1395H,Q201R,Q254E,Q596K,R1317C,R1345C,R1345H,R2062W,R2065H,R2065S,R2166K,R2319C,R2319S,R2418G,R2491C,R2495S,R2653Q,R2702C,R286G,R938K,R944H,R947Q,S103T,S137A,S143F,S1876P,S2084G,S2212N,S2857A,S466L,S699G,S699T,S834F,T1082N,T1416R,T2112M,T2382M,T894A,T917M,T93A,T942A,V1208D,V2102I,V2221A,V238L,V238M,V2931M,V299D,W1031G,W1031R,W2091R,W840C,Y72C" "0,1,0,0,0,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,0,0,0,0,0,0,1,1,1,0,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,1,0,0,0,0,0,0,0,1,1,0,1,1,0,1,1,1,0,1,0,1,1,1,0,1,1,0,1,1,1,0,1,1,1,0,1,1,1,0,0,0,0,1,0,0,0,1,1,1,1,1,0,0,1,1,0,1,1,1,0,0,1,1,0,1,1,1,1,1" 55636 148 hgmd32;pmd552.2;pmd553.4;pmd554.1;pmd555.1;pmd556.2;pmd2058.1;pmd2703.1;pmd2704.1;pmd2909.1;sw2103;spmut38;dbsnp8512;hgmd0613_498 NP_000780;ACE_HUMAN;NP_000780.1 "A154T,A183T,A261S,A319S,D1045H,D592G,E767K,F1051V,G267R,G354R,G552D,G618S,H1015Q,I1018T,I798V,K155N,L168P,M828T,N1036K,P1102T,P1228L,P202L,P351L,P485R,P505A,Q1296P,R1279Q,R1286S,R260C,R260L,R324W,R379Q,R410Q,R442H,R487C,R561W,R857H,S362W,S660C,T1187M,T1210M,T381M,T916M,V297M,V524A,V978M,Y244C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 1636 1155 hgmd330;pmd75.1;pmd76.2;pmd77.3;pmd660.1;pmd1418.1;sw1423;sws151;spmut354;evn963;dbsnp17723;hgmd0613_1580 NP_009125;CHK2_HUMAN;NP_009125.1 "A17T,A264T,D347N,D497N,E239K,E501K,E64K,F447I,G167R,H371Y,I160T,I251F,I448S,K373E,L436M,L512V,N446K,P536L,P85L,R117G,R137Q,R145P,R145W,R180C,R180H,R181C,R181H,R318C,R318H,R406H,R523H,S16G,S428F,S500C,T323P,T476K,T476M,T59K,T89A,Y327C,Y424H" "0,0,0,0,1,0,1,0,1,1,0,1,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,0,1,0,0,0,0,0,1,1,1,1,0,1,1" 11200 5328 hgmd331;sw4437;dbsnp13307;hgmd0613_1067 NP_003456;CHIT1_HUMAN;NP_003456.1 "A149S,A201T,A359G,A442G,A442V,E74K,G102S,G19S,G268R,G354R,G415E,G422D,G97R,N30S,P451S,Q171H,R40H,S345G,T255S,T69I" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1118 7082 hgmd332;sw2602;spmut1699;dbsnp30069;hgmd0613_322 NP_000381;RAE1_HUMAN;NP_000381.1 "A104G,D10G,H507R,L550P,L80F,M289V,N601S,Q471L,R367Q,S28A,S89C,V506A,V69L" "0,0,1,1,0,0,0,1,0,0,0,0,0" 1121 4526 hgmd333;sw11696;evn236;dbsnp21329;hgmd0613_1657 NP_054762;CHM2B_HUMAN;NP_054762.2 "D148Y,D151E,E56D,K59R,Q206H,R30G,S187N" "1,0,0,0,1,0,0" 25978 12668 hgmd334;sw10256;evn1009;hgmd0613_2415 NP_789782;CHM4B_HUMAN;NP_789782.1 "A204T,D129V,E161K,F42Y,I197V" "0,1,1,0,0" 128866 11589 hgmd335;evn170 NP_001020372;NP_001020372.2 "I64L,V146I" "0,0" 1123 7237 hgmd336;pmd2915.1;pmd2916.1;pmd2917.2;pmd4458.2;pmd4462.1;evn735;dbsnp26605;dbsnp26606;dbsnp26607;dbsnp26608;dbsnp26609;dbsnp26610;dbsnp26611;dbsnp26612;hgmd0613_481 NP_000730;ACM2_HUMAN;NP_000730.1;NP_001006628.1;NP_001006627.1;NP_001006631.1;NP_001006632.1;NP_001006630.1;NP_001006629.1;NP_001006633.1 "D220E,D253N,E172K,G73S,N258S,P372A,P415T,R326K,S334I,T287S,V225D,V231I,V344G,W427L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1129 7019 hgmd337;dbsnp18441;hgmd0613_56 NP_000070;NP_000070.1 "D215N,D358V,E355G,E411D,H320Q,M380T,R75H" "0,0,0,0,0,0,0" 1134 6962 hgmd338;sw4935;dbsnp27395;hgmd0613_482 NP_000733;ACHA2_HUMAN;NP_000733.2 "D478E,E412K,G128D,I279N,K244R,R355C,R355G,T125A,T22I,T237K,T47M,T56S,T58I" "0,0,0,1,0,0,0,0,0,0,1,0,0" 1135 4824 hgmd339;sw3241;dbsnp16633;hgmd0613_483 NP_000735;ACHA4_HUMAN;NP_000735.1 "E387G,E501K,E92Q,P556L,P556R,Q399E,Q572R,R197C,R240Q,R336C,R483Q,S280F,S280L,S517L,S541F" "0,0,0,0,0,0,0,0,0,0,0,1,1,0,0" 1137 4824 hgmd33;pmd18.1;pmd19.2;pmd557.1;pmd2117.1;pmd2404.1;pmd2405.1;pmd2667.1;pmd2668.1;pmd2669.1;pmd2670.2;pmd2671.3;pmd2672.1;pmd2673.1;pmd2911.1;pmd2912.1;pmd2913.1;pmd2914.1;pmd3772.1;pmd4274.1;sw2520;spmut37;evn876;dbsnp26114 NP_000656;ACES_HUMAN;NP_000656.1 "A458T,A498T,A528G,E112Q,G57R,G89E,H315N,L7P,M73T,P135A,P247L,P56L,R138L,R34Q,T42M,V333E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 43 4954 hgmd340;sw2042;dbsnp9594;hgmd0613_484 NP_000738;ACHB_HUMAN;NP_000738.2 "E32G,F475S,G230E,I420T,L285M,R417W,V114M,V289M,V77M" "0,0,0,0,1,0,0,1,0" 1140 6625 hgmd341;sw2336;evn217;dbsnp15166;hgmd0613_485 NP_000739;ACHB2_HUMAN;NP_000739.1 "E190D,F377L,G404R,Q397H,R232H,R360H,R393H,S175L,S175W,T26M,V287L,V287M,V33G" "0,0,0,0,0,0,0,0,0,0,1,1,0" 1141 6613 hgmd342;pmd558.2;sw4209;sws516;evn393;dbsnp18432;hgmd0613_486 NP_000742;ACHD_HUMAN;NP_000742.1 "E80K,F95L,G316S,H135A,N39K,P271Q,P307S,P369S,Q288E,R243H,R30Q,R467H,S289F,V139M,V54I,Y269H" "1,1,0,0,0,1,0,0,1,0,0,0,1,0,0,0" 1144 6356 hgmd343;sw4155;dbsnp9214;hgmd0613_57 NP_000071;ACHE_HUMAN;NP_000071.1 "A431P,G134S,G13R,G18V,I194T,L241F,L289F,L98P,P141L,P265L,R167L,R331W,R421H,S163L,S391I,T284P,V152D,V301M,V468L,V8A,Y35H" "1,0,1,0,0,1,1,1,1,1,1,1,0,1,0,1,0,0,0,0,0" 1145 6357 hgmd344;sw1783;evn557;dbsnp18522;hgmd0613_1327 NP_005190;ACHG_HUMAN;NP_005190.4 "A149T,A221S,A259T,A366T,C252R,F458C,G461R,H263Y,I485V,L424P,P420L,P506S,Q238H,R109W,R239C,R28C,R373Q,R42Q,R474H,S372F,V107G,V321M,V359I,V367A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0" 1146 6357 hgmd345;sw7734;evn457;dbsnp7196;hgmd0613_2247 NP_569735;CHSTE_HUMAN;NP_569735.1 "C289S,E214D,G36T,L137Q,P281L,R135G,R213P,V212A,W327C,Y293C" "1,0,0,1,1,1,1,0,0,1" 113189 9061 hgmd346;sw6590;evn396;dbsnp467;hgmd0613_1174 NP_004264;CHST3_HUMAN;NP_004264.2 "A68S,E104G,E114D,E335K,E372K,I348M,L259P,L307P,M107V,R222W,R304Q,R357Q" "0,0,0,0,1,0,1,1,0,1,1,0" 9469 7016 hgmd347;sw10033;evn1134;dbsnp7601;hgmd0613_1990 NP_067628;CHST6_HUMAN;NP_067628.1 "A128V,A154T,A206T,A206V,A217T,A336T,A39E,C102G,C102Y,D203E,D221E,D221Y,E274K,F107S,F121L,G52D,H249P,H42Y,K174R,K320N,L152P,L15P,L200R,L22R,L276P,L59P,M104V,M70L,N369D,N61T,P204Q,P31S,P72S,Q122P,Q331H,R127C,R166P,R177H,R202S,R205L,R205Q,R211Q,R211W,R315H,R394Q,R50C,R93H,R97P,S131P,S157P,S210F,S51L,S53L,S98W,T159S,V125M,V198E,V375G,V66L,V76M,Y110C,Y268C,Y358D,Y68H" "1,0,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,0,0,1,0,1,1,1,1,1,1" 4166 8359 hgmd348;sw854;evn364;dbsnp10654 NP_001270;CIDEA_HUMAN;NP_001270.1 "A181T,A4P,A4S,A69T,D132N,F131L,F27L,F27V,I161V,I68M,K213R,L102F,L93V,M151T,M31I,N41S,P121L,R162Q,R197Q,R209Q,R24Q,R38W,R48H,S124L,S178F,T150N,T164K,T164M,T28I,T28S,V147M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1149 12545 hgmd349;dbsnp7270;hgmd0613_201 NP_000237;NP_000237.2 "A658G,A691D,A894V,A96T,D154N,F449V,G198S,G500A,G527R,G531S,I487M,K975R,L45V,L477I,M311V,P124T,P322L,P322R,Q900R,R390W,R615W,S1115N,S781L,T165S,T612A,V138A,V782A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4261 1626 hgmd34;evn737;dbsnp8824;hgmd0613_1143 NP_004026;NP_004026.2 "H245Y,I312M,I507T,N166S,P177A,P27L,R122C,R490G,R591C,R591H,R6C,R6S,T153I,V266M,V535I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51 4477 hgmd350;sw8720;evn485;dbsnp7572;hgmd0613_2186 NP_116219;CIR1A_HUMAN;NP_116219.2 "C395G,C395R,C395S,C401G,C401R,C401S,D238E,E319D,E319Q,G101V,G459A,G459E,G459V,I338M,I596M,I633V,L675I,L675V,N419K,R438H,R438L,R438P,R565W,R634L,R634P,R634Q,R636C,R636G,R636H,R636L,R636P,R636S,T387P,T450A,V179F,V179I,V179L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84916 4196 hgmd351;pmd666.1;pmd667.1;sw1739;dbsnp11912;hgmd0613_828 NP_001815;KCRM_HUMAN;NP_001815.2 "E83G,G243A,L127V,L299V,M30I,R152Q,R251P,T166M" "0,0,0,0,0,0,0,0" 1158 8187 hgmd352;sw11232;evn334;dbsnp2646;hgmd0613_1638 NP_037378;CLCF1_HUMAN;NP_037378.1 "D90N,G10E,G10R,P161S,P167R,R122H,R131H,R197L,R30C,R95Q" "0,0,0,0,0,0,0,1,0,0" 23529 12428 hgmd353;dbsnp26654;hgmd0613_60 NP_000074;NP_000074.2 "A437T,E606K,F167L,F494L,G945V,H29P,K614N,L106V,L198V,M485V,P727L,P781S,P930H,P932L,Q154R,Q753P,R317Q,R9H,S740C,V465I" "0,0,1,0,0,0,0,0,1,1,0,0,0,1,0,0,1,0,0,0" 1180 2150 hgmd354;sw3533;dbsnp20311;hgmd0613_1189 NP_004357;CLCN2_HUMAN;NP_004357.3 "A212T,A330V,A545T,D599N,D894N,D895N,E718D,G199A,G715E,L440F,P48R,R124W,R235Q,R577Q,R644C,R646Q,R688Q,R68H,R725W,R73H,R747H,S661T,S719L,T668S" "0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,1,0,0,1,0" 1181 2150 hgmd355;sw3534;spmut378;evn320;dbsnp30274;hgmd0613_61 NP_000075;CLCN5_HUMAN;NP_000075.1 "C219R,C221R,E106D,E112D,E267A,E482D,E527D,F273L,G179D,G212A,G260V,G462D,G506E,G512R,G513E,G513R,G57V,I369V,I524K,K115R,K546E,L200R,L225P,L278F,L469P,L669M,M142I,N340K,Q481H,R280P,R516W,S128N,S203L,S244L,S270G,S270R,S520P,S545N,T657S,V362I,V363M,V485I,W547G,Y272C" "1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,0,0,1,0,1,1,0,1,1,1,1,1,1,1,0,0,0,1,1" 1184 2796 hgmd356;sw3536;evn186;dbsnp7972;hgmd0613_750 NP_001278;CLCN7_HUMAN;NP_001278.1 "D668N,F318L,F758L,G215R,G240R,G521R,G677V,I261F,L132P,L490F,L549P,L614P,L651P,L699M,L766P,M332V,N214S,N774D,P249R,R286Q,R403Q,R526Q,R526W,R762Q,R762W,R767P,R767Q,R767W,R795G,S61N,S744F,T654M,V418M,V56I" "0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,0" 1186 3171 hgmd357;sw3537;dbsnp13492;hgmd0613_1151 NP_004061;CLCKA_HUMAN;NP_004061.3 "A287V,A447T,H357Q,H497Y,H544R,L334V,M67I,P683L,Q41K,R234W,R45H,R534W,R538C,R661Q,R83G,R8C,R8H,T312I,T454A,T577A,V104I,V457I,W80C,W80G,Y315F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 1187 4189 hgmd358;sw3538;dbsnp12838;hgmd0613_62 NP_000076;CLCKB_HUMAN;NP_000076.2 "A204T,A214G,A349D,A469T,F4L,G290V,H357Q,I419V,K578E,L439P,M562T,N143H,P124L,P530L,Q385R,R27L,R395W,R438C,R76Q,S297G,S573P,S655F,S660L,S88R,T481S,T557P,V104I,V126L,V275I,V334L,V524I,V58L,W234R,Y432H" "1,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 1188 4189 hgmd359;sw1324;evn253;dbsnp17173;dbsnp17174;dbsnp17175;dbsnp17176;dbsnp17177;hgmd0613_2295 NP_652763;CLD14_HUMAN;NP_001139549.1;NP_001139550.1;NP_001139551.1;NP_652763.1;NP_036262.1 "A163V,A222T,P193S,R106C,T4M,V136I,V44M,V85D,Y62C" "0,0,0,0,0,0,0,1,0" 23562 12137 hgmd35;evn153;dbsnp30257;hgmd0613_1206 NP_004449;NP_004449.1 "A191T,D177H,G465S,I192V,N215D,R623Q,R656K,R92C,S179N,S311A" "0,0,0,0,0,0,0,0,0,0" 2182 3875 hgmd360;sw11965;evn1068;dbsnp20476;hgmd0613_1522 NP_006571;CLD16_HUMAN;NP_006571.1 "A192T,A209T,A279D,A56P,F232C,F85L,G191R,G198A,G198D,G201A,G233D,G239R,G26D,H141D,I224V,L145P,L151F,L151P,L151W,L167P,M71R,N223S,P291R,P64L,R149L,R216T,S235F,S235P,Y258H,Y277C" "0,1,0,0,1,0,1,1,1,0,1,1,0,1,0,1,1,1,1,1,1,0,0,0,1,1,1,1,0,0" 10686 10745 hgmd361;sw7538;dbsnp14582;hgmd0613_2328 NP_683763;CLD19_HUMAN;NP_683763.2 "A216T,E209G,G20D,I22T,I77V,L13F,L90P,Q57E,R200Q,V93M,Y199C" "0,0,1,0,0,0,1,1,0,0,0" 149461 12447 hgmd362;sw4451;evn494;dbsnp7888;dbsnp7889;hgmd0613_608 NP_001035897;CLN3_HUMAN;NP_000077.1;NP_001035897.1 "C134R,E295K,G187A,G189R,G366S,H404N,H404R,I105V,I414V,L101P,L170P,P259L,P81L,R334C,R334H,T80S,V330F,W309R" "1,1,1,1,0,0,0,0,0,1,1,0,0,1,1,0,1,0" 1201 7797 hgmd363;dbsnp4981;hgmd0613_1513 NP_006484;NP_006484.1 "A51V,D138N,E268A,K225E,K368R,M202I,N242K,P398S,W75R" "0,0,0,0,0,0,1,0,1" 1203 8433 hgmd364;sw10914;dbsnp7081;hgmd0613_1856 NP_060352;CLN6_HUMAN;NP_060352.1 "A12T,A34T,E72Q,F186S,F234L,F238T,G123D,G17S,G259S,L169P,L47F,L67P,M241T,N77K,N90K,P159L,P297T,P299L,R103Q,R149C,R149H,R252C,R252H,R39G,R62H,R6T,S104F,S257G,S308T,T93M,V307I,W300R,Y221C,Y221S" "1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,0,0,0,0,1,1,1" 54982 10626 hgmd365;sw11278;evn736;dbsnp27940;hgmd0613_1905 NP_061764;CLN8_HUMAN;NP_061764.2 "A155V,A30P,A4V,D17G,D17V,E269V,F63L,G221S,G237R,H139Y,H92Y,I107S,I127A,L16M,N125S,N152S,P260L,Q194R,Q76R,R204C,R24G,R70H,R97H,T170M,W213C,W263C,Y158C,Y18F" "0,1,0,0,0,1,0,1,1,1,0,1,0,1,1,0,0,1,1,1,1,1,0,1,0,1,1,0" 2055 11169 hgmd366;sw3789;dbsnp20567;hgmd0613_2400 NP_777367;CLRN1_HUMAN;NP_777367.1 "C40G,K7I,L150P,L154W,M120K,M61I,N48K,P31L,S105P,S3N" "1,0,1,1,1,0,1,1,1,0" 7401 12021 hgmd367;sw2016;dbsnp27331 NP_001822;CLUS_HUMAN;NP_001822.3 "D328N,E343D,E379K,H263Q,N317H,P270L,R214Q,S396L,S396W,T203I,V128I" "0,0,0,0,0,0,0,0,0,0,0" 1191 7603 hgmd368;sw2767;evn608;dbsnp22352;hgmd0613_63 NP_000078;CNGA1_HUMAN;NP_000078.2 "A682V,D118N,E56D,F282I,N122D,N7K,P680L,R32Q,S320F,T51I,V393I" "0,0,0,0,0,0,0,0,1,0,0" 1259 3532 hgmd369;sw4961;evn146;dbsnp18479;hgmd0613_752 NP_001289;CNGA3_HUMAN;NP_001289.1 "A133T,A158V,A323P,A469T,C191Y,C510S,D162V,D260N,D485V,D543N,E194K,E198K,E228K,E590K,E593K,F249S,F380S,F547L,G267D,G513E,G516E,G525D,G548R,G557R,I522T,L186F,L264I,L527M,M406T,M656I,N182Y,N471S,P163L,P372S,P48L,P95L,Q118R,R223W,R277C,R277H,R283Q,R283W,R410W,R427C,R436W,R439W,R563H,R569H,R646H,R81H,S341P,S401P,T153M,T224R,T245M,T247M,T291R,T369S,T565M,V383I,V529M,V540I,Y181C,Y184C,Y263D,Y573C" "0,0,0,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,0,1,0,0,1,1,1,0,1,0,1,0,1,1" 1261 3532 hgmd36;sw3891;evn300;hgmd0613_652 NP_001091;ACTS_HUMAN;NP_001091.1 "A116T,A140P,A172G,A274E,D156N,D181G,D181H,D181N,D27N,D288G,D294V,D3Y,E226G,E226Q,E243K,E261V,E336A,E74K,E85K,G148D,G17R,G184D,G199S,G253D,G270C,G270D,G270R,G44V,G65S,H42Y,H75L,H75R,I138M,I359L,I66N,I77L,K338E,K338I,K375E,K375Q,L142P,L180M,L223P,L96P,M134V,M192K,M229T,M229V,M271R,M285K,N117S,N117T,N227V,N282K,P334S,P40L,Q248K,Q248R,Q265L,Q43R,R118H,R185C,R185D,R185G,R185S,R198L,R258H,R258L,R374S,S350L,T150N,T196R,T68I,T79A,V136A,V165M,V372F,V45F,Y281H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1" 58 1801 hgmd370;sw10683;dbsnp27628;hgmd0613_1915 NP_061971;CNGB3_HUMAN;NP_061971.3 "A305T,A807G,C234W,D494N,D513Y,D633G,E199K,E755G,F525N,G107R,G15R,G558C,H566Q,H566Y,I259T,I307V,I512V,K148E,K702N,L150F,L498M,L595F,M466T,N27S,P309L,P750S,Q720R,R140C,R25H,R403Q,R480Q,S156F,S435F,T298P,T504A,T505A,T578S,T672P,V241I,V770F,V770L,W373R,Y469D" "0,0,0,1,1,1,1,0,1,1,0,1,0,0,0,0,0,1,0,0,0,1,1,0,1,0,0,0,0,1,0,1,1,0,0,0,0,1,0,0,0,0,1" 54714 3147 hgmd371;sw6110;sws730;dbsnp19468;hgmd0613_1927 NP_064569;CNNM4_HUMAN;NP_064569.3 "G126R,I186V,L324P,M514T,N263S,R236Q,R651H,S196P,S200Y" "0,0,1,0,0,1,0,1,1" 26504 2738 hgmd372;sw11342;evn811;dbsnp26752;hgmd0613_1663 NP_054860;CNTP2_HUMAN;NP_054860.1 "A1227T,A416V,D1038N,D1129H,D1323A,D1323E,E494K,E596K,E680K,G168E,G285A,G620R,G731S,G779D,I1253T,I140V,I176V,I869T,L1065I,L226M,N1317S,N215K,N407S,N418D,P699Q,R1119H,R114Q,R160H,R283C,R790H,R906H,S1114G,S382N,T1278I,T218M,V1102A,V345I,V46M,V627I,V708A,V870A,Y716C" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26047 1106 hgmd373;sw685;evn887;dbsnp5488;dbsnp5489;hgmd0613_1155 NP_004077;COCH_HUMAN;NP_001128530.1;NP_004077.1 "A119T,D281N,E518G,G10S,G135R,G88E,H212Q,I109N,I402V,I450V,I496V,N429D,P19L,P51S,P532S,R42S,T352S,V433A,V66G,W117R,Y424D" "1,0,0,0,0,1,0,1,0,0,0,0,0,1,0,0,0,0,1,1,0" 1690 5836 hgmd374;evn548;dbsnp7686;hgmd0613_1750 NP_056201;NP_056201.2 "A48T,D677G,I173T,I209V,K180R,L8F,N644S,P766A,Q19P,Q587K,R125P,R198C,R369H,R375C,S152N,S578N,T162I,T3I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25839 3293 hgmd375;sw4133;dbsnp24539;hgmd0613_402 NP_000484;COAA1_HUMAN;NP_000484.2 "C591R,D128N,D648G,G18E,G18R,G545R,G595E,G595R,G618V,G86R,G98R,L15V,L614P,L644R,L8W,M27T,M549I,N617K,Q653P,R138Q,R198H,R258Q,S50R,S600P,S671P,V603L,V603M,W651R,Y582D,Y597C,Y597H,Y598D" "1,0,1,1,1,0,1,1,1,0,0,0,1,1,0,0,0,1,1,0,0,0,0,1,1,0,0,1,1,1,1,1" 1300 3668 hgmd376;sw2079;sws223;evn427;dbsnp13447;hgmd0613_835 NP_001845;COBA1_HUMAN;NP_001845.3 "A1160T,A37S,A44T,A662S,D1472E,D1787N,D46E,D672N,E282G,E341Q,E408N,F401I,F860I,G1027R,G1042R,G110R,G1513D,G1516V,G53E,G559S,G565V,G625V,G676R,G796R,H324R,I118V,I1490V,I302V,L1497I,L1805F,L24M,M314L,M632I,N301K,N49S,P1077T,P1323L,P1532A,P1536A,P710A,P974Q,Q1343P,Q1343R,Q717R,R1103S,R1733H,R476H,S1535P,S549A,S70A,T1711I,T1752A,T18S,T298A,V1271I,V1271L,V1331I,V284I,W8G" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,1,1,0,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1301 533 hgmd377;dbsnp24597;hgmd0613_2241 NP_542411;NP_542411.2 "D1287G,D197V,E1628D,E276K,E334D,G461D,N1205K,P1316T,P1347Q,P1722L,P236S,P690L,P779L,P77Q,P894L,P950L,Q1376E,Q1707H,R110Q,R118P,R1379Q,R1551Q,R1551W,R1600Q,R1667H,R1724Q,R36W,R48W,R539W,R546G,R729Q,R846W,R852Q,S606L,T1097P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 1302 533 hgmd378;sw11585;dbsnp77;hgmd0613_403 NP_000485;COHA1_HUMAN;NP_000485.3 "A1435V,A380T,D1370G,D208N,D919N,G1322S,G1345R,G1361R,G428S,G436E,G436R,G440S,G446S,G459S,G627V,G633D,G946R,I1087M,I592V,L361V,L540M,M231I,M238T,M527I,M703V,N948K,P1040S,P1151L,P1343L,P875S,P922T,Q787H,R1069Q,R106C,R1247W,R1290W,R1303Q,R1489K,R766C,S1029A,S265C,S275R,S435G,S78C,T210M,T320A,T4A,T97A,V441G,V611M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0" 1308 831 hgmd379;pmd2454.1;pmd2734.1;dbsnp8859;hgmd0613_64 NP_000079;CO1A1_HUMAN;NP_000079.2 "A390T,A625T,A723T,D1277H,G1340S,G906S,L1388R,N1394S,P1191A,P571L,Q1391K,R1322K,R564H,T1258P" "0,0,0,1,0,0,1,0,0,0,0,0,0,0" 1277 826 hgmd37;sw3871;evn301;dbsnp150;dbsnp151;hgmd0613_795 NP_001604;ACTA_HUMAN;NP_001135417.1;NP_001604.1 "D365N,F92L,G65R,H373P,N117T,R118Q,R149C,R179H,R185Q,R212Q,R258C,R258H,R292G,R39H,S360G,T196S,T320A,T326N,T353N,V154A,Y135H,Y145C" "0,0,0,0,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1" 59 1801 hgmd380;sw1811;evn684;dbsnp25934;hgmd0613_65 NP_000080;CO1A2_HUMAN;NP_000080.2 "A1119T,A131S,A276T,A483D,A483V,A564T,A743G,A743T,A765S,A792T,A843T,A990V,C1195Y,C18Y,D1189E,D1315N,E1013D,E578D,G1003D,G1012S,G1027E,G1066D,G1078C,G1087D,G1096A,G1102R,G1105S,G193S,G202R,G211D,G247R,G253D,G256V,G283R,G319R,G325E,G328S,G331D,G334C,G337C,G337S,G349C,G358S,G397E,G409V,G433E,G454C,G457L,G460S,G511D,G517R,G526E,G547R,G562C,G562V,G586R,G592S,G601S,G625D,G634V,G637D,G640S,G670D,G676D,G676V,G715D,G730C,G733C,G736C,G748V,G751S,G754C,G754R,G766V,G778S,G784R,G787C,G790D,G796S,G820S,G835C,G835S,G856R,G856V,G877C,G892D,G895D,G949S,G955D,G955S,G973V,G982D,G991V,G997D,H576P,I1034L,I249N,I954N,L1022F,L17S,L344V,N1285H,N435S,N528S,P1076H,P1101L,P204H,P420A,P549A,P584T,P587A,P678H,P770L,Q1354H,R1205Q,R1205W,R234C,R41H,R693Q,R708Q,R822H,S1198P,S401G,T1148P,T59P,V1047M,V270I,V294F,V630A,V891L" "1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,1,0,0,0,0,0,0" 1278 826 hgmd381;sw1556;evn587;dbsnp3652;hgmd0613_829 NP_001835;CO2A1_HUMAN;NP_001835.3 "A1051T,A1069S,A712S,C1485G,C57Y,D1469H,D547V,E1321Q,E142D,E943D,E968D,G1005S,G1017V,G1053E,G1065V,G1110C,G1113C,G1119R,G1143S,G1158A,G1170S,G1173R,G1176S,G1176V,G1179R,G1188R,G1197S,G1246S,G1305D,G1405S,G1437D,G1443S,G240D,G267D,G270R,G282D,G303D,G318R,G354R,G375R,G447S,G453A,G453D,G453V,G492V,G501R,G504C,G510D,G513S,G516D,G717S,G717V,G771A,G771D,G774S,G780R,G795R,G804A,G855S,G891R,G894E,G897V,G909C,G948D,G969S,G981S,L196M,L21F,L667F,N545S,P158L,P268L,P434S,P718A,P7L,P944L,R1276H,R275C,R565C,R719C,R904C,R989C,R992G,T1390N,T1430M,T1439M,T1448P,T638I,T9S,V1331I,V35M,Y1391C" "0,0,0,1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,0,1,1,0,0,0,0,1" 1280 826 hgmd382;dbsnp18318;hgmd0613_66 NP_000081;NP_000081.1 "A908V,C1464F,G106S,G1341S,I1205V,K1273R,K1313R,L169F,N76D,P517L,P602T,P668S,P668T,P686A,P905A,R271Q,V44I" "0,0,0,0,0,0,1,1,0,1,0,0,0,0,0,1,0" 1281 826 hgmd383;sw1558;dbsnp4928;hgmd0613_830 NP_001836;CO4A1_HUMAN;NP_001836.2 "D1353G,G1130D,G1236R,G1414V,G1423R,G1491S,G1580R,G168R,G332R,G498R,G498V,G510R,G519R,G525L,G528E,G562E,G607V,G720D,G749S,G755R,G805R,I110T,P1259R,P207A,P304L,P485L,P530S,P54L,P709L,P902R,Q1334H,Q515H,Q848E,T555P,V579I,V798L,V7L" "0,1,1,0,1,0,1,0,0,1,1,1,1,1,1,1,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1282 649 hgmd384;sw4059;dbsnp18784;hgmd0613_67 NP_000082;CO4A3_HUMAN;NP_000082.2 "A178T,A24G,D1269E,D1347E,D326Y,E162G,E269K,G1015E,G1167R,G1207E,G1216R,G1277S,G1334E,G297E,G407R,G43R,G532D,G640R,G739R,G853R,G985V,H451R,I1330T,I165T,K834R,L141P,L1474P,P1109S,P116T,P25S,P574L,Q1495R,R1040T,R1215Q,R1661C,R408H" "0,0,0,1,0,0,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,0,0,0,0,0,0,0,0,0,0,1,1,0" 1285 649 hgmd385;sw3606;dbsnp18319;hgmd0613_68 NP_000083;CO4A4_HUMAN;NP_000083.3 "A1078T,A1078V,A1675T,A931T,E570Q,E594G,G1030V,G1118R,G116E,G1201S,G545A,G897E,G960R,G999E,I6T,I967V,L523F,M1552I,P1004L,P1004Q,P1132L,P1215L,P1330L,P1402S,P1441L,P1572L,P482S,P691L,P759L,R877Q,S1403P,S1649G,V1327M,V670I" "0,0,0,0,0,0,1,0,1,1,0,1,1,1,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0" 1286 649 hgmd386;sw2753;evn607;dbsnp29799;hgmd0613_404 NP_000486;CO4A5_HUMAN;NP_000486.1 "A1375S,A1498D,A430D,A440P,A770T,C1564S,C1567R,C1678W,D676E,E562K,E633K,G1006A,G1006V,G1015E,G1015V,G1030S,G1036V,G1039S,G1045E,G1066R,G1066S,G1086D,G1104V,G1107R,G1143D,G1143S,G114S,G1158R,G1161R,G1167S,G1170S,G1182R,G1196R,G1205C,G1211E,G1211R,G1220D,G1229D,G1241C,G1244D,G1252S,G1261E,G1270S,G1279A,G129E,G129V,G1333S,G1357S,G1379V,G1421W,G1427V,G1442D,G1451S,G1486A,G1596D,G174R,G177C,G177R,G192R,G204D,G204V,G216R,G219S,G230R,G239E,G264R,G289V,G292R,G292V,G295D,G298S,G319R,G325E,G331V,G365E,G371E,G374A,G383D,G400E,G406V,G409D,G412V,G415R,G420E,G420V,G423E,G466E,G472R,G491E,G494D,G497C,G521C,G521S,G524D,G545R,G545V,G54D,G558R,G561R,G567A,G573D,G579E,G579R,G603V,G609R,G609V,G621C,G624D,G629D,G632D,G635D,G638A,G638S,G638V,G653R,G669A,G681D,G684V,G687E,G722E,G740E,G743D,G772D,G796R,G802R,G808E,G811V,G822R,G852E,G852R,G866E,G869R,G872R,G878R,G902V,G911E,G941C,G947D,G953V,H1156R,I1020T,I194V,K1008R,K664N,L1428M,L1649R,M163T,M898V,N1191T,N217S,P1271S,P1392L,P1443L,P1517T,P1559A,P396L,P604T,P619S,P739A,P739S,R1410C,R1422C,R1511H,R1563Q,R1677P,R1677Q,R74L,S1488F,T1028A,T1402S,T1470S,T937A,V1458I,W1538S" "0,1,0,0,0,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,0,1,0,1,0,0,0,0,0,1,0,0,0,0,1,1,1,1,1,1,1,1,0,1,0,0,0,0,0,1" 1287 649 hgmd387;pmd89.1;sw2464;sws270;dbsnp28627;hgmd0613_69 NP_000084;CO5A1_HUMAN;NP_000084.3 "A114D,A1356T,A1605V,A1636T,A1784T,A93V,C1639S,D1803N,D192N,D200N,D229N,E1599Q,E863V,G1486C,G1489D,G268V,G634S,G899S,I199M,L25P,L25R,N50S,N50T,N852I,N852S,N951S,P1115Q,P1263L,P1379S,P393S,P495L,P855R,R65Q,R65W,S1687Y,S254L,T1757M,T699M,V1140M,V137I,V172F,V172I" "0,0,0,0,0,0,1,0,0,0,0,0,0,1,1,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1289 533 hgmd388;sw1716;evn697;dbsnp18782;hgmd0613_325 NP_000384;CO5A2_HUMAN;NP_000384.2 "A1373V,D1414N,D1432V,D30G,E1242D,G1484S,G963R,I127L,I1404V,I15T,K431R,L187M,M361L,N1357H,N4I,P1033L,P1190S,P260A,P284L,P460S,P467L,P485Q,P553L,P659L,P671S,P706L,P764R,P833L,P866L,P88H,Q1307E,R1106W,R1346H,R545W,R956P,S1243N,S253T,T1230R,T1230S,T434M,T755A,V1205A,V1205I,V512A" "0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1290 826 hgmd389;sw2080;evn844;dbsnp16970;hgmd0613_832 NP_001839;CO6A1_HUMAN;NP_001839.2 "A255T,A533P,A570T,A57D,A778V,A934T,A953T,D995N,E251K,E372G,E956K,G272D,G275R,G281R,G284R,G305V,G332S,G341D,G341V,I681T,I763V,K121R,K571T,K814R,K937E,K990Q,L941F,P274L,P450L,P655A,Q1010R,Q808H,R433Q,R439Q,R565Q,R682Q,R68C,R850H,R928H,S1001R,S348L,S391P,S879G,S890L,T881M,V117A,V117M,V460A,V619M,V959A" "0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,1,0,1,1,0,0,1,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1291 1989 hgmd38;sw3847;evn313;hgmd0613_654 NP_001092;ACTB_HUMAN;NP_001092.1 "I5N,L65V,N12D,P243L,R183W,R196C,R196H" "0,1,1,0,1,1,1" 60 1801 hgmd390;sw2081;evn670;dbsnp16959;hgmd0613_833 NP_001840;CO6A2_HUMAN;NP_001840.3 "A1006V,A961V,A994T,A995T,C777R,D227H,D227N,D330N,D354N,D621N,D778N,D869N,E106K,E210K,E210Q,E278K,G1009S,G167S,G271S,G283R,G531R,G588S,G700S,G935R,I1015L,K1000E,L837P,P357R,P518S,P932L,Q194R,R149H,R264H,R377H,R489Q,R498H,R680H,R724C,R745W,R784H,R853Q,R867Q,S392N,S399N,S895R,S895T,T590M,T5P,V574L,V804G,V835I,V996M" "0,0,0,0,1,0,0,0,0,1,0,0,1,0,0,0,0,0,1,1,1,0,1,0,0,0,1,0,0,1,0,0,0,0,0,1,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0" 1292 2024 hgmd391;sw2082;evn856;dbsnp18268;hgmd0613_1190 NP_004360;CO6A3_HUMAN;NP_004360.2 "A1111T,A1356T,A1373T,A1638T,A1790V,A2236T,A259T,A259V,A2611V,A2643V,A2670V,A2730D,A2935V,A2941V,A3012P,A3050T,A320T,A423V,A596S,A807T,A830S,A919V,A932S,A932T,C1877F,D2431V,D2615N,D2615Y,D2617N,D2831H,D2837V,D410N,D491H,D563G,E1386K,E2453K,E52K,F1284L,F2514L,F405S,G1679E,G2047D,G2056R,G2080D,G2252R,G317E,G716D,G736S,H1006Q,I1163L,I1437F,I2054T,I244V,I2590V,I439V,K1014E,K1088Q,K1754R,K2483E,K2937R,K3006R,L1726R,L1824F,L2123V,L411V,M2927T,M2988V,M3175T,N1314S,N1467D,N1801K,N2023S,N2805S,N2805T,P1687S,P1894S,P2218L,P2912L,P3132S,P612A,Q1217H,R1064Q,R1143S,R1149Q,R1149W,R1301Q,R1301W,R1308W,R1395W,R1504W,R1576Q,R1632Q,R1990W,R2043H,R2251W,R2290C,R2420W,R2549W,R2734Q,R406C,R513Q,R609Q,R625T,R659H,R677H,R677L,R955H,S1390L,S1870N,S1870R,S2467L,S359G,S521L,T1406M,T2874M,T2879M,T2940M,T3069I,T492S,T538M,T732M,V1030M,V1069M,V1251I,V1364M,V1985M,V1986A,V2562A,V2820I,V2858I,V342M,V422M,V493A,V666I,V886E,V987M" "0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 1293 125 hgmd392;pmd4006.1;sw4085;sws492;evn1048;dbsnp20317;hgmd0613_70 NP_000085;CO7A1_HUMAN;NP_000085.1 "A1313P,A1503V,A1562T,A1790P,A1864T,A2755D,E1297K,E1858K,E2857K,E372G,E748K,F1750L,G1347R,G1519D,G1522E,G1546R,G1557R,G1595R,G1604R,G1652R,G1703E,G1776R,G1782R,G1791E,G1812R,G1815R,G1818A,G1845R,G1982W,G2003R,G2006A,G2006D,G2009R,G2015E,G2025A,G2028A,G2028R,G2031S,G2034R,G2034W,G2037E,G2040D,G2040S,G2040V,G2043W,G2046V,G2049E,G2055E,G2064R,G2070R,G2073D,G2076D,G2079E,G2079R,G2132D,G2192S,G2207R,G2221A,G2242R,G2251E,G2263V,G2287R,G2296E,G2316R,G2348R,G2351R,G2366S,G2369S,G2557R,G2569R,G2575R,G2623C,G2653R,G2671V,G2674D,G2674R,G2709R,G2713D,G2713R,G2740A,G2749R,G2775S,G636V,G93D,H491R,I308T,K142R,K1981R,L2396P,L2583P,L97F,M2160V,M2798K,M410T,M817V,N2122D,P1270L,P1277L,P1458L,P1520L,P1820R,P1820S,P1940L,P2089T,P2199L,P2429L,P268S,P2931S,P595L,P939L,Q662R,R1036Q,R1050C,R1068C,R1120K,R1201H,R1202H,R1340Q,R1408W,R1529C,R1538C,R1538H,R1696C,R1772W,R1870C,R2008C,R2008G,R2063W,R2069C,R2346C,R2622W,R2791W,R2835H,R2844W,R295Q,R538H,R582C,R628W,R951C,R990W,S1183A,S543N,S698G,T30I,T389M,V1438I,V198I,V2375D,V2465A,V2758A,V547F,V760M,V791I" "0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,0,0,1,1,0,0,0,0,1,0,0,0,0,1,1,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,1,1,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 1294 155 hgmd393;sw2624;evn648;dbsnp15357;hgmd0613_1328 NP_005193;CO8A2_HUMAN;NP_005193.1 "G357R,G3R,G567S,H417Q,I44V,L2R,M102T,P575L,Q455K,Q48K,R304Q,R434H,R668Q,T502M,T645I,V619I" "1,0,0,0,0,0,0,1,1,0,1,1,0,0,0,0" 1296 3668 hgmd394;sw4603;evn133;dbsnp16094;hgmd0613_834 NP_001844;CO9A3_HUMAN;NP_001844.3 "A169V,A260V,A264V,A435E,A576T,A606T,C7F,G130S,G17E,G3R,G460S,G633R,H161Y,I443V,L137P,P296L,P476R,P558L,P564S,P61L,P70L,P94S,Q407R,R103Q,R103W,R234P,R252Q,R27K,R378H,R402Q,R577Q,S521G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1299 4224 hgmd395;sw11702;evn1123;dbsnp20685;hgmd0613_1407 NP_005668;COLQ_HUMAN;NP_005668.2 "C444Y,D342E,D370N,E385D,G246A,G46V,H372R,K279E,L379F,M83I,P263L,P361S,P59Q,Q439R,R127G,R410Q,S312G,S39R,Y430S" "1,1,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,1" 8292 7480 hgmd396;sw3411;evn1107;dbsnp12061;hgmd0613_71 NP_000086;COMP_HUMAN;NP_000086.2 "A109G,A171T,A218E,A311D,C328R,C348F,C348R,C371S,C371Y,C387G,C387R,C410Y,C448S,C468Y,D290G,D290N,D317G,D326G,D326Y,D342Y,D349V,D361V,D361Y,D374N,D376N,D378V,D385N,D385Y,D397H,D408Y,D420A,D446N,D471Y,D472Y,D473G,D473H,D475N,D482G,D496E,D507G,D511G,D515G,D518N,E50D,F275L,G167E,G299R,G404R,G427E,G440E,G440R,G501D,G719D,G719S,L51W,M67V,N386D,N415K,N453S,N523K,P234S,P276R,Q164E,Q222P,Q663L,Q756R,R223A,R224G,R285P,R381C,R381H,R718P,R718W,S298L,T529I,T585M,T585R,V128I" "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,0,0,0,1,0,0,0,0,0,1,1,1,1,1,1,0" 1311 2280 hgmd397;dbsnp22115;hgmd0613_1768 NP_056512;NP_056512.5 "E416D,G154S,V66L" "0,0,0" 27235 8127 hgmd398;sw4350;evn57;dbsnp8909;hgmd0613_753 NP_001294;COX10_HUMAN;NP_001294.2 "A261S,A357S,D124A,D31E,D336G,D336V,G340D,I376V,L258H,L421P,N204K,P101L,P225L,R159Q,R228C,R431W,S20C,S433R,T137R,T196K,T28I,T62S,V366L,Y97C" "0,0,0,0,1,1,0,0,0,0,1,0,1,0,0,0,0,0,0,1,0,0,0,0" 1352 7702 hgmd399;dbsnp300;hgmd0613_1191 NP_004367;NP_004367.2 "F372L,F374L,I347T,P110L,P310R,R183H,R222C,R36C" "0,0,0,0,0,0,0,0" 1355 8380 hgmd39;sw3890;evn299;hgmd0613_1321 NP_005150;ACTC_HUMAN;NP_005150.1 "A297S,A333P,E101K,E363G,G368C,G368D,H42Y,H90Y,M125V,M307L,P166A,R314H,R97C,Y168C" "1,1,1,1,0,0,0,1,1,1,1,1,1,1" 70 1801 hgmd3;sw10729;evn303;dbsnp4370;hgmd0613_1767 NP_056480;AAAS_HUMAN;NP_056480.1 "C213S,F90L,G533R,G64D,H160R,K108M,K418N,L4M,Q15K,R434Q,S255R,S263P" "0,0,0,0,1,0,0,0,1,0,0,1" 8086 5894 hgmd400;sw9077;dbsnp16605;hgmd0613_2178 NP_115998;COX42_HUMAN;NP_115998.2 "A59P,E138K,F111L,G30R,R161H,R85W" "0,1,0,0,0,0" 84701 13522 hgmd401;sw2196;dbsnp12476;hgmd0613_837 NP_001854;CX6B1_HUMAN;NP_001854.1 "P83S,R20H" "0,1" 1340 14777 hgmd402;pmd1414.1;sw1442;dbsnp21082;hgmd0613_72 NP_000087;CERU_HUMAN;NP_000087.1 "A649T,E153K,E842G,G895A,H108Y,H51Y,I63T,L914Q,N263S,P116H,P477L,R367C,R436L,R720W,S14G,S501R,T101A,T313I,T551I,T583I,T841R,V816I,Y239F" "0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 1356 1841 hgmd403;sw2211;evn904;dbsnp753 NP_001299;CBPN_HUMAN;NP_001299.1 "I51V,L117F,L254V,S242N,T409M,V425M,Y176N" "0,0,0,0,0,0,0" 1369 7427 hgmd404;sw3042;dbsnp20166;hgmd0613_73 NP_000088;HEM6_HUMAN;NP_000088.3 "A132V,C239Y,E201K,E217D,G189S,G197W,G279R,G280R,H295D,K404E,L214R,N272H,P249R,P249S,R328C,R331W,R352C,R447C,S208F,V135A,V294I,W427R,Y392D" "0,0,1,0,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,0,1,0" 1371 7497 hgmd405;sw2866;evn1061;dbsnp18191;hgmd0613_838 NP_001866;CPSM_HUMAN;NP_001866.2 "A1065E,A1119T,A1155E,A1155V,A1378T,A25E,A304V,A347S,A438P,A438T,A43V,A498P,A543T,A589T,A640S,A724P,A726T,A949T,C1327R,C648Y,C816R,D1205N,D1274H,D165G,D224V,D358H,D572N,D654V,D767V,D914G,D914H,D973V,E1034G,E1255D,E651K,F1266S,F805L,F805S,F992S,G1333E,G1376S,G150E,G213S,G258E,G263E,G301E,G317E,G401R,G431R,G432V,G58D,G593R,G628D,G79E,G911E,G911V,G982D,G982S,G982V,G987C,H1045R,H1195P,H1292P,H243P,H249Y,H337R,I1054R,I1215V,I385T,I632R,I986T,K1229N,K280N,K450E,K875E,L1398V,L390R,L843S,L958P,M1283L,M792I,M829V,M899I,N1016S,N1241K,N674I,N674K,N698S,N716K,N970S,P1017L,P1411L,P1418S,P1439L,P1462R,P382L,P746T,P774L,P87S,Q1059R,Q1103R,Q320H,Q500R,Q678P,Q810R,R1089C,R1089L,R1228Q,R1262P,R1262Q,R1371L,R1453Q,R1453W,R233C,R238Q,R587C,R587H,R587L,R638P,R718K,R721Q,R780H,R803C,R803G,R803S,R814W,R850C,R850H,R932T,S1203L,S1203P,S123F,S129A,S1331P,S597L,S65F,S759T,S913L,S918P,S998F,T1010M,T1022I,T1391M,T1406N,T1443A,T2M,T344A,T344S,T405N,T471N,T544M,T544S,T6I,V1141G,V457G,V531E,V531G,V622M,V71G,V978E,Y1491H,Y212N,Y389C,Y89D,Y959C,Y962C,Y984H" "1,0,1,1,1,0,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,0,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,0,1,1,0,1,1,1,1,1,1,1,0,1,0,0,1,1,1,1,1,1,0,1,1,0,1,1,1,0,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,0,1,1,0,1,0,0,0,0,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 1373 326 hgmd406;sw3454;evn87;dbsnp1854;hgmd0613_839 NP_001867;CPT1A_HUMAN;NP_001867.2 "A414V,C304W,D454G,E321K,E360G,F343V,G465W,G709E,G710E,I491T,I508T,K285Q,L484P,N733S,P479L,P510L,R123C,R288Q,R316G,R357W,S98T,T101M,T314I,V54L,V626L,V669M,Y498C" "1,1,1,0,1,1,1,1,1,0,0,0,1,0,1,0,1,0,1,1,0,0,1,0,0,0,1" 1374 3189 hgmd407;pmd2425.1;pmd2426.2;pmd2759.1;sw2589;dbsnp13460;hgmd0613_74 NP_000089;CPT2_HUMAN;NP_000089.1 "A101V,D213G,D553N,E174K,F352C,F383Y,F448L,F648S,G549D,G600R,K458Q,M214T,M342T,M647I,M647V,N311S,P227L,P504L,P50H,P604S,Q304H,Q550R,R151Q,R296Q,R503C,R631C,S113L,S588C,T150A,T150P,V507I,V533A,V605L,Y210D,Y479F,Y628S" "1,1,1,1,0,1,1,0,1,1,0,1,0,0,0,0,1,1,1,1,0,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1" 1376 4499 hgmd409;sw3960;dbsnp14853;hgmd0613_2482 NP_957705;CRUM1_HUMAN;NP_957705.1 "A1354T,A1365D,A161V,A483T,A937T,C1165W,C1174G,C1181R,C1218F,C1223S,C1321S,C1332F,C157S,C195F,C250W,C27F,C310Y,C383Y,C438Y,C45W,C480G,C480R,C54F,C587Y,C681Y,C891G,C939Y,C948Y,D397H,D491V,D564Y,D584Y,D837H,E222K,E710Q,E710V,E993K,F144V,F488S,F742S,G1205R,G333D,G454R,G846R,G850S,H1232R,I1003T,I1100R,I1100T,I1344V,I205T,I852T,I989T,K534N,L1012S,L1071P,L1107P,L1107R,L535P,L753P,L916F,M1041T,M741T,N1317H,N312K,N894S,N986I,P1060L,P1305L,P1381L,P836T,Q679E,R1331H,R764C,R769H,R769Q,R905Q,S1025I,S1025N,S103T,S635P,S678N,S740F,T1099K,T484A,T745M,T821M,V162M,V578E,V901I,W675C,Y1161C,Y1198C,Y433C" "1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,0,1,1,0,1,1,0,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,0,1,1,0,0,1,1,1,0,1,0,1,1,0,1,1,1,1,1,1,1,1,1" 23418 970 hgmd40;sw3886;evn381;dbsnp9434;dbsnp9435;hgmd0613_796 NP_001605;ACTG_HUMAN;NP_001186883.1;NP_001605.1 "A135V,A204V,E241K,G13C,I122V,I64F,K118M,K118N,K238N,M47I,P243L,P264L,P332A,R254W,R256W,S155F,T120I,T160I,T203K,T278I,T89I,V370A" "1,0,1,0,1,0,1,1,0,0,0,1,1,1,1,1,1,0,1,1,1,1" 71 1801 hgmd410;sw8599;evn103;dbsnp8029;hgmd0613_1192 NP_004371;CBP_HUMAN;NP_004371.2 "A1003T,A146P,A2243V,A339G,A690T,A981T,E1278K,G2114R,G2114S,G2229S,G98V,H1470R,I1038T,I198M,I968S,L551I,M747V,N1978I,N1978S,N2111S,N522I,N522S,N984S,N984Y,P1010L,P1053L,P153L,P1608T,P578S,P858S,P885A,Q771R,R1378P,R1664H,S1043L,S1067T,S116G,S128C,S1980G,S235T,S299G,S801P,S893L,T1447I,T780S,T910A,T999A,T999V,V1414I,V238L,V992I,Y1175C,Y1450H" "0,0,1,0,0,1,1,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,1,1" 1387 261 hgmd411;dbsnp20422;dbsnp20424;hgmd0613_1757 NP_056328;NP_056328.2;NP_001070883.1 "I417V,L304V,P128R,R220Q,S212L,W28C" "0,0,0,0,0,0" 78987 8124 hgmd412;sw1019;dbsnp12468;hgmd0613_1263 NP_004741;CRLF1_HUMAN;NP_004741.1 "D223N,L374R,N104S,R119H,R176K,R81H,R89H,T156M,W76G" "0,1,0,0,0,1,0,0,1" 9244 8098 hgmd413;sw1073;evn419;dbsnp21336;hgmd0613_1498 NP_006362;CRTAP_HUMAN;NP_006362.1 "A13E,A318V,A8V,A98S,D310N,E137D,E2G,G219S,G4E,K157E,K204T,K254R,L172V,L261V,L347F,L67P,Q326E,V214A,V268I" "1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0" 10491 7823 hgmd414;pmd4310.2;pmd4311.3;sw645;sws68;evn699;dbsnp12336;hgmd0613_455 NP_000545;CRX_HUMAN;NP_000545.1 "A158T,A56T,A68V,E42K,E80A,G122D,G8R,H10D,K88N,R41Q,R41W,R90W,T123S,T129S,T154A,V242M" "0,1,0,1,1,1,0,0,1,1,1,1,0,0,0,1" 1406 10872 hgmd415;pmd470.1;sw1559;sws162;dbsnp17178;hgmd0613_326 NP_000385;CRYAA_HUMAN;NP_000385.1 "L52F,R116C,R116H,R21L,R49C" "0,1,1,1,1" 1409 13452 hgmd416;pmd1268.1;pmd1269.2;pmd1270.3;pmd4262.1;sw1560;evn326;dbsnp1878;hgmd0613_840 NP_001876;CRYAB_HUMAN;NP_001876.1 "G154S,I124V,P39L,P51L,R120G,R157H,S41Y" "1,0,0,0,1,1,0" 1410 13452 hgmd417;sw3615;evn1047;dbsnp17254;hgmd0613_841 NP_001877;CRBA4_HUMAN;NP_001877.1 "A97V,F94S,L69P,R103C,T30M,T84M,V36M" "0,1,1,0,0,0,0" 1413 12643 hgmd418;sw3616;dbsnp17587;hgmd0613_842 NP_001878;CRBB1_HUMAN;NP_001878.1 "A51E,G18R,G25E,R110C,R132C,R60T,S129R" "0,0,0,0,0,0,1" 1414 11858 hgmd419;sw3216;evn224;dbsnp17621;hgmd0613_405 NP_000487;CRBB2_HUMAN;NP_000487.1 "A65S,D173E,H5L,N35S,R81H,S14P,S204T,V187M,W195G" "0,0,0,0,0,0,0,1,0" 1415 11858 hgmd41;sw3006;evn739;dbsnp14591;hgmd0613_660 NP_001094;ACTN2_HUMAN;NP_001094.1 "A476T,A644T,A823V,A868P,A882T,D622N,E16D,I620V,L399V,L726V,M507T,M507V,M576L,M604V,N170H,N590S,P309L,Q314K,Q9R,R298H,R721S,S431L,S433L,T412M,T609A,T609N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 88 2368 hgmd420;sw2673;dbsnp17560;hgmd0613_1152 NP_004067;CRBB3_HUMAN;NP_004067.1 "A13G,A68S,E32D,E3G,G165R,H113D,K201N,R105Q,R179H,R195H,R88H,S42L,V159I" "0,0,0,0,1,0,0,0,0,0,0,0,0" 1417 11858 hgmd421;sw1765;evn502;dbsnp18473;hgmd0613_1976 NP_066269;CRGC_HUMAN;NP_066269.1 "F6L,G129C,P28T,R169W,R48H,R59Q,R91W,S106N,T5P,V86F" "0,1,0,1,1,0,0,0,1,0" 1420 13387 hgmd422;sw1767;spmut425;dbsnp19159;hgmd0613_1548 NP_008822;CRGD_HUMAN;NP_008822.2 "E107A,G61C,H88Q,M102V,M44V,N50K,P24S,P24T,R15C,R37S,R59H,V126M,W43R" "1,1,0,0,0,0,1,1,1,1,1,0,1" 1421 13469 hgmd423;dbsnp21410;hgmd0613_1827 NP_060011;NP_060011.1 "D13E,G102E" "0,0" 1427 13387 hgmd424;evn976;dbsnp8282;hgmd0613_843 NP_001879;NP_001879.1 "E172A,E175V,E274Q,G84C,R186Q,R18C,R56S,S2N" "0,0,0,0,0,0,0,0" 1428 10545 hgmd425;pmd219.1;sw1769;sws184;spmut431;dbsnp23201;hgmd0613_1329 NP_005202;CSF1R_HUMAN;NP_005202.2 "A245S,A770P,D266N,D837Y,E633K,E920D,F849S,G413S,G589E,G747R,H362R,I775N,I794T,K867Q,L536V,L868P,M766T,M875T,N153H,N241D,N255I,P510A,P878T,P90T,R294Q,R710H,R921Q,S157L,S414F,T587I,V268I,V279M,V32G,V518M" "0,1,0,1,1,0,1,0,1,0,0,1,1,0,0,1,1,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 1436 2227 hgmd426;pmd2946.1;sw2227;hgmd0613_1461 NP_006131;CSF2R_HUMAN G196R 1 1438 8572 hgmd427;pmd187.1;sw2913;dbsnp17280;hgmd0613_327 NP_000386;IL3RB_HUMAN;NP_000386.1 "A185T,A645V,D312N,E249Q,E811K,G506R,G647V,G684R,L297V,L460V,N191S,P199S,P508H,P596L,P696S,P787H,P842L,R215H,R357H,R432C,S659T,T40P,T50I,V257M,V652M,V870I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1439 2626 hgmd428;sw9431;dbsnp14114;hgmd0613_489 NP_000751;CSF3R_HUMAN;NP_000751.1 "P229H,T640N" "1,1" 1441 2811 hgmd429;sw3354;sws398;spmut1030;evn404;dbsnp9751;hgmd0613_844 NP_001884;KC1D_HUMAN;NP_001884.2 "A304T,E2V,I381V,M363V,P401A,R4K,R8W,S19L,T44A" "0,0,0,0,0,0,0,0,1" 1453 8249 hgmd42;pmd471.2;sw741;evn1086;dbsnp12490;hgmd0613_1280 NP_004915;ACTN4_HUMAN;NP_004915.2 "A18G,A525T,D846E,D890E,D910Y,E442K,E808D,G894S,H438Q,K255E,K300R,L817V,P179L,P873L,Q692R,R695H,S262P,S688N,T259I,V660I,V801M" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,1,0,0" 81 2368 hgmd430;sw3459;dbsnp2790;hgmd0613_1070 NP_003467;CSRP3_HUMAN;NP_003467.1 "A8T,C25F,C58G,G182R,G72R,L44P,R100H,W4R" "0,0,1,0,0,1,1,1" 8048 13090 hgmd431;pmd3414.1;pmd4021.1;sw1482;spmut449;dbsnp16566;hgmd0613_75 NP_000090;CYTC_HUMAN;NP_000090.1 "A25T,L94Q,R71H,R71S,T142A" "0,1,0,0,0" 1471 13991 hgmd432;sw1628;dbsnp17179;hgmd0613_76 NP_000091;CYTB_HUMAN;NP_000091.1 "G4R,V41M" "1,0" 1476 14674 hgmd433;sw5006;evn972;dbsnp8445;hgmd0613_754 NP_001321;CTF1_HUMAN;NP_001321.1 "A92T,L175F,L51F" "1,0,0" 1489 12930 hgmd434;sw2914;evn821;dbsnp13202;hgmd0613_845 NP_001893;CGL_HUMAN;NP_001893.2 "C229R,G171A,Q240E,R237C,S206C,S403I,T67I,V166M,V37L" "0,0,1,0,0,0,1,0,0" 1491 8485 hgmd435;sw915;dbsnp8597;hgmd0613_1283 NP_004928;CTNS_HUMAN;NP_004928.2 "D205N,D305G,D305Y,D324N,D346N,D74N,G110V,G157D,G169D,G197R,G308R,G308V,G309D,G337R,G339R,I133F,I178M,K280R,K292R,L158P,L313H,L338P,L338R,M287I,N177S,N177T,N288K,N323K,P111L,P200L,Q222R,R151G,R232C,R232H,S139F,S298N,S39L,T260I,V221M,W182R,Y173C" "1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,0,0,1,1,0,0,0,1,1" 1497 8588 hgmd436;sw9535;dbsnp14967;hgmd0613_1587 NP_009203;CTRC_HUMAN;NP_009203.2 "A73T,D260N,D35H,D35N,E225A,E96K,G217R,G217S,G218S,K172E,L220R,P249L,Q48R,R246H,R246L,R254W,R37Q,R80W,V235I" "1,1,0,0,0,0,1,0,0,0,0,1,1,0,0,0,0,0,1" 11330 11478 hgmd437;dbsnp16636;hgmd0613_256 NP_000299;NP_000299.2 "A466T,D312N,D480N,L72F,R14C,R180G" "0,0,0,0,0,0" 5476 6694 hgmd438;pmd73.1;pmd74.1;pmd1410.1;pmd3896.1;pmd4001.1;sw1791;evn1142;dbsnp27335;dbsnp27336;dbsnp27337;dbsnp27338;dbsnp27339 NP_001899;CATB_HUMAN;NP_001899.1;NP_680092.1;NP_680091.1;NP_680090.1;NP_680093.1 "A110V,A82E,K237E,K245N,L26P,N246T,P91L,P94L,Q334P,R18Q,S235N,S257L,S257W,S53C,S53G,T61A,V249L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1508 9920 hgmd439;dbsnp2104;hgmd0613_826 NP_001805;NP_001805.3 "I453V,R442C,T115I,Y88C" "0,0,0,0" 1075 7336 hgmd43;sw4152;sws509;evn1084;dbsnp19081;dbsnp19082;hgmd0613_664 NP_001096;ACVR1_HUMAN;NP_001096.1;NP_001104537.1 "A15G,G116E,G328E,G328W,G356D,G43S,H47Q,I12M,I7M,L141I,L16F,M13I,M13V,N119S,N29S,N44S,P30H,Q207E,R202I,R206H,R375P,S41F,V124I,V2I" "0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,0,0,0" 90 6475 hgmd440;pmd657.1;pmd2956.1;sw1770;dbsnp1338;hgmd0613_846 NP_001900;CATD_HUMAN;NP_001900.1 "A337T,A58V,F229I,G282R,K253R,N401S,P68L,V52I,W383C" "0,0,1,0,0,0,0,0,1" 1509 8325 hgmd441;sw1831;dbsnp6100 NP_001902;CATG_HUMAN;NP_001902.1 "G15A,K219R,S42G,T90I" "0,0,0,0" 1511 11796 hgmd442;pmd4315.2;pmd4316.3;sw3208;evn1129;hgmd0613_328 NP_000387;CATK_HUMAN;NP_000387.1 "A277E,A277V,E110D,G146R,G79E,L309P,R312G,Y212C" "1,1,0,1,1,1,1,1" 1513 10106 hgmd443;sw845;sws97;dbsnp193;hgmd0613_626 NP_001072;CUBN_HUMAN;NP_001072.2 "A1098S,A1202S,A1202T,A1690V,A3140T,A3140V,A335T,A99T,C2162Y,C2764R,D1554N,D1700N,D2160G,D2225H,D2455E,D3451N,D363G,D561N,E2623A,E2968Q,E3002G,E3021K,E3265K,E886K,F124I,F2088S,F2263C,F253S,F2965S,F728L,F977L,G1840S,G1953R,G2691R,G2695D,G272R,G3114S,G3347R,G450D,G591R,G66R,G892S,H1330Y,H1434R,H730Y,H919R,I1894V,I2333V,I2984V,I37L,I504M,K3419M,L1119S,L1557F,L2153F,L2879I,L3466P,L969V,M1574T,M1I,M2449R,M2449T,N143H,N1545Y,N2115S,N2157D,N2320S,N3042S,N3417S,N3552K,N562S,P1216A,P1297L,P1559S,P1971T,P1975L,P1988S,P2503L,P2575R,P2578S,P321S,P3343L,P389A,P389T,Q2048E,Q3334H,R1613L,R1775W,R1810Q,R2030Q,R224H,R224S,R2283W,R2444Q,R264T,R3498H,R3612Q,R3612W,R43Q,S1251T,S1459C,S1834T,S1876A,S1935G,S1947Y,S2001G,S2187L,S2214N,S2371F,S2717W,S2964C,S3164W,S3329L,S3359L,S3369G,S865N,T1741M,T1804M,T1841M,T2031A,T2800I,T3069I,T3253M,T3422I,T3432S,T713M,V1769I,V2891I,V2990I,V3423I,Y1032H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8029 95 hgmd444;sw4551;spmut439;evn713;dbsnp30201;hgmd0613_1081 NP_003579;CUL4B_HUMAN;NP_003579.3 "D21N,G22D,H415Y,L103P,L727I,M327T,N12S,R572C,T213I,V745A" "0,0,0,0,0,0,0,1,1,1" 8450 2537 hgmd445;sw4778;evn1089;dbsnp25068;hgmd0613_1707 NP_055595;CUL7_HUMAN;NP_055595.2 "A1017T,A594T,A871V,D1556E,D1556Y,D444V,D593E,E126G,E1358D,F1490L,F1694V,G872S,H1464P,I1139T,K855E,L1014R,L1205F,L1488P,L1588I,L166V,P134S,P343S,P620L,Q1246G,Q1246H,Q1558R,Q813R,R1095C,R1232Q,R218H,R256Q,R356H,R401Q,R46W,R773Q,R852Q,R882Q,R983C,S616G,S898W,S930N" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9820 570 hgmd446;sw1435;dbsnp17437;hgmd0613_330 NP_000389;NB5R3_HUMAN;NP_000389.1 "A179V,C204R,C204Y,D49H,E213K,G292D,L149P,L73P,R160Q,R297H,R58Q,S128P,S66P,S82L,T117S,V106M,V253M,V300I" "1,1,1,0,1,1,1,1,0,0,1,1,0,0,0,1,1,0" 1727 10056 hgmd447;sw2122;spmut445;dbsnp7268;hgmd0613_77 NP_000092;CY24A_HUMAN;NP_000092.2 "A124V,A125T,A75T,E12D,E171G,E193D,E53V,G24R,G25V,H94R,K60T,L52P,P156Q,R90Q,R90W,S118R,V174A,V76M,Y72H" "1,1,0,0,0,0,1,1,1,1,0,1,1,1,1,1,0,0,0" 1535 13071 hgmd448;pmd1303.1;pmd4258.1;sw1663;dbsnp30153;hgmd0613_329 NP_000388;CY24B_HUMAN;NP_000388.2 "A156T,A224G,A488D,A55D,A57E,C244R,C244Y,C537R,C59R,C59W,D500E,D500G,D517E,E225V,E309K,F205I,G179R,G223L,G322E,G364R,G389A,G389E,G408E,G472S,H101R,H101Y,H119R,H209Q,H209R,H209Y,H222L,H222N,H222R,H222Y,H303N,H338Y,I325F,L342Q,L420P,L505R,L546P,M405R,P304R,P339H,P415H,P415L,Q231P,R229H,R356P,R54M,R54S,S193F,S333P,S344F,S422P,T178P,T307P,V387I,V534D,W18C,W516C,Y41D" "1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1" 1536 5543 hgmd449;sw5381;dbsnp18008;hgmd0613_2093 NP_079119;CYBR1_HUMAN;NP_079119.3 "M156T,M176T,R226H,S15L,S266N" "0,0,1,0,0" 79901 11170 hgmd44;sw4563;evn1023;dbsnp19989;hgmd0613_666 NP_001097;AVR2B_HUMAN;NP_001097.2 "A119P,E459D,G20S,G487S,I70S,L154V,L493F,P176R,P506L,R40H,T439A,T488S,V494I,V6A" "0,0,0,0,0,0,0,0,0,1,0,0,1,0" 93 6427 hgmd450;sw3999;evn481;dbsnp26562;hgmd0613_1906 NP_061820;CYC_HUMAN;NP_061820.1 "G42S,I59T,K56R,M66L,S48P" "1,0,0,0,0" 54205 14582 hgmd451;sw10656;spmut448;evn981;dbsnp7958;hgmd0613_1738 NP_056062;CYLD_HUMAN;NP_056062.1 "E747G,E9D,G173D,I20V,L306F,R397S,T411S,T869K" "1,0,0,0,0,0,0,0" 1540 2299 hgmd452;sw1680;dbsnp6371;hgmd0613_492 NP_000772;CP11A_HUMAN;NP_000772.2 "A189V,A359V,E217A,E314K,H242Y,L141W,L222P,Q364R,R353W,V179I,V415E,V79I" "1,1,0,0,0,1,1,0,1,0,1,0" 1583 6272 hgmd453;sw2232;dbsnp27321;hgmd0613_406 NP_000488;C11B1_HUMAN;NP_000488.3 "A180T,A29T,A348T,C10Y,C262Y,D167N,D63H,E147D,F257L,F494C,G379V,H125Q,K173R,L204V,L293V,M160I,N133H,P42S,P94L,Q285H,R123C,R181P,R374Q,R404H,R448H,R454C,S112I,S281N,T248I,T318M,T318R,T319M,Y439H" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,1,1,0,0,0,1,0,1,1,0,0,0,1,1,1,0" 1584 6599 hgmd454;pmd45.1;sw2387;dbsnp27323;hgmd0613_407 NP_000489;C11B2_HUMAN;NP_000489.3 "A29T,E198D,E383V,F487V,I339T,I339V,K173R,L461P,M68I,N222T,N281S,N503T,R181W,R30Q,T185I,T498A,V235I,V386A,V403E,Y61F" "0,1,0,0,0,0,0,1,0,0,0,0,1,0,1,1,0,1,0,0" 1585 6599 hgmd455;pmd544.2;pmd2165.1;pmd2249.1;pmd2441.2;pmd2533.2;pmd2534.1;pmd2588.1;pmd3416.1;pmd3417.1;pmd4022.1;pmd4312.1;sw1677;dbsnp71;hgmd0613_78 NP_000093;CP17A_HUMAN;NP_000093.1 "C22W,D116V,D241Y,E330K,F114V,F417C,F93C,G77S,H373L,L363F,M1I,N177D,P342T,P35L,P428L,R21K,R347C,R347H,R358Q,R362C,R416C,R440H,R496C,R496H,R96W,S106P,S210G,V197D,W406R,Y329D,Y64S" "0,1,0,0,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1" 1586 6495 hgmd456;pmd600.1;pmd1948.1;pmd2061.1;pmd2363.1;pmd2417.1;pmd2535.1;pmd2709.1;pmd2893.1;pmd3415.1;pmd3419.1;pmd3420.1;pmd3991.1;sw2060;evn1098;dbsnp6418;dbsnp6419;hgmd0613_2135 NP_112503;CP19A_HUMAN;NP_000094.2;NP_112503.1 "C437Y,E139D,I255M,I333M,I9M,M318T,M85I,R288C,R365Q,R375C,R375L,R435C,T201M,T453I,V28I,W39R,Y241N" "1,0,0,0,0,0,0,0,1,1,0,1,0,0,0,0,0" 1588 6600 hgmd457;sw5028;dbsnp18002;hgmd0613_79 NP_000095;CP1B1_HUMAN;NP_000095.2 "A115P,A119S,A189P,A330F,A330S,A388T,A443G,D192V,D374N,D441H,D449E,D530E,D530G,E229K,E387K,E499G,F445C,G184S,G232R,G365W,G466D,G61E,I399S,L345F,L432V,L77P,M132R,M372V,N203S,N423Y,N453S,P12L,P193L,P379L,P435L,P437L,P52L,Q144H,Q144P,Q144R,Q159H,Q68R,R145W,R266L,R368H,R390C,R390H,R390S,R444Q,R469W,R48G,R523T,S206N,S215I,S239R,S28W,S515L,V198I,V320L,V364M,V409F,V422G,V518A,W57C,Y81N" "1,0,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,0,1,1,0,0,1,1,0,1,1,1,1,1,0,0,1,0,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,0,0,1,1" 1545 5938 hgmd458;dbsnp24260;hgmd0613_408 NP_000491;NP_000491.4 "A266V,A392T,D184E,G252S,L199F,P268L,P35L,R103K,S274Y,S494N" "1,1,0,0,1,0,0,0,0,0" 1589 6734 hgmd459;pmd3156.1;pmd4162.2;sw4082;evn32;dbsnp18434;hgmd0613_494 NP_000775;CP27A_HUMAN;NP_000775.1 "A169E,A169V,A491S,A502D,E235K,E291K,G145E,I182M,R225C,R26K,R395C,R395S,R405Q,R451K,R474Q,R474W,R479C,R513H,S232Y,T175M,V50I,V522M" "0,0,0,0,0,0,1,0,0,0,1,1,1,0,1,1,1,0,0,0,0,0" 1593 6106 hgmd45;sw3059;evn1045;dbsnp4322;dbsnp4323;hgmd0613_6 NP_000011;ACVL1_HUMAN;NP_000011.2;NP_001070869.1 "A306P,A347P,A482V,C344Y,C51Y,C77W,D179A,D397G,E215K,E379K,E407D,F425L,F425V,G211D,G223R,G48R,H314Y,I245N,I398N,K229R,K42R,K487T,K8R,L162F,L285F,L337P,M376R,M376V,N96D,P108S,P378L,P424T,R374Q,R374W,R411P,R411Q,R411W,R479L,R47Q,R484W,R67Q,R67W,S333I,T450A,W399S,W50C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,0,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1" 94 6475 hgmd460;sw618;evn1058;dbsnp4046;hgmd0613_495 NP_000776;CP27B_HUMAN;NP_000776.1 "E189G,E189K,G125E,H71R,L343F,P353A,P382S,P497R,Q65H,R107H,R153L,R335P,R389C,R389G,R389H,R429P,R453C,S323Y,S360P,T321R,T409I,V166L,V478G" "1,1,1,0,1,0,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,0,1" 1594 6496 hgmd461;sw2456;dbsnp11402;hgmd0613_490 NP_000758;CP2B6_HUMAN;NP_000758.1 "A102S,A279P,A464T,D257N,D28G,E148D,E339A,E339D,G110V,G99E,H341D,H397R,I114T,I182M,I209V,I391N,K139E,K262R,M198T,M459V,M46L,M46V,N289K,P167A,P428T,Q172H,Q21L,Q286R,R109W,R140Q,R145Q,R158Q,R22C,R29P,R29S,R336C,R487C,R491H,S173C,S259R,S96C,T168I,T26S,T306S,T423N,T67M,V183I,V367L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1555 6755 hgmd462;pmd641.2;sw2001;dbsnp138 NP_000761;CP2C8_HUMAN;NP_000761.3 "E154D,E274G,G365S,G384S,G417V,H411L,I244V,I264M,I331T,K249R,L390S,M1V,M426V,N193K,R186G,R442C,S343I,V181I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1558 6783 hgmd463;pmd102.1;pmd673.1;pmd2554.1;sw2067;evn351;dbsnp137;hgmd0613_491 NP_000762;CP2C9_HUMAN;NP_000762.2 "D360E,E272G,G442R,H251R,I205V,I327T,I359L,I359T,K423N,L19I,L287M,L306M,L413P,M1V,N474S,P30L,P363L,P489S,R124L,R124Q,R144C,R150C,R150H,R150L,R335W,V5A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1559 6783 hgmd465;sw3510;dbsnp13572 NP_000766;CP2J2_HUMAN;NP_000766.2 "A10D,A133T,A355T,D342H,D342N,I192N,N124S,R158G,R200H,R356Q,R39H,R49C,R49S,V113M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1573 6614 hgmd466;sw6322;evn1131;dbsnp2828;hgmd0613_2070 NP_078790;CP2R1_HUMAN;NP_078790.2 "E104K,E436D,G16C,H452Q,L99P,N166I,Q274R,R455W,R6I,S156C,S292A,T383A" "0,0,0,0,1,0,0,0,0,0,0,0" 120227 6626 hgmd467;pmd101.1;pmd103.1;pmd104.2;pmd105.1;pmd642.2;sw1853;dbsnp26036 NP_059488;CP3A4_HUMAN;NP_059488.2 "D174H,D174N,G56D,I118V,I193V,I369V,I431T,K421R,K67R,K96E,L15P,L373F,M395V,N426S,P218R,P416L,Q200H,R130Q,S222P,S252A,T185S,T349N,T363K,T363M,V170I,V489I,Y68C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1576 6065 hgmd468;sw2457;evn331;dbsnp26636 NP_000768;CP3A5_HUMAN;NP_000768.1 "A337T,D277E,E76D,F446S,H30Y,I149T,I276T,I371V,I488N,I488S,I488T,L82R,P169S,P416S,Q200R,R28C,R439K,S100C,S281L,T398N,T74M,V350M,V89M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1577 6065 hgmd469;sw6026;evn667;dbsnp11711;hgmd0613_2391 NP_775754;CP4FN_HUMAN;NP_775754.2 "A179T,A23V,F59L,H155Y,H435Y,H436D,H94N,K505Q,L396M,L485V,R187W,R243H,R246C,R262Q,R284W,R372W,R451H,R57H,S178C,S196C,Y218H,Y357H" "0,0,1,0,1,1,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0" 126410 6107 hgmd46;sw4118;sws502;evn1065;dbsnp20026;dbsnp20030;hgmd0613_471 NP_000657;ACY1_HUMAN;NP_000657.1;NP_001185824.1 "A111V,E233D,N179S,N224S,R197Q,R197W,R350H,R353C,R378Q,R378W,R386C,R393C,R393H,S3N,V314L" "0,1,0,0,0,1,0,1,1,1,1,0,1,0,0" 95 8420 hgmd470;sw6498;evn130;dbsnp21809;hgmd0613_2504 NP_997235;CP4V2_HUMAN;NP_997235.3 "A204T,D301A,E275K,E447K,E79D,G61S,H331P,I111T,I172T,L22V,M123V,Q259K,R368H,R443Q,R508H,S213N,S341P,S39T,V372I,W44R" "0,0,0,0,1,1,1,1,0,0,1,0,0,1,1,0,1,0,0,1" 285440 6202 hgmd471;sw1101;evn123;dbsnp28011;hgmd0613_1271 NP_004811;CP7B1_HUMAN;NP_004811.1 "A32S,E137G,E179Q,E344D,F216S,G57R,L19P,R324H,R370C,R417H,R431T,R486C,S363F,T177M,V399I" "0,0,0,0,1,1,0,0,0,1,0,1,1,0,0" 9420 6539 hgmd472;sw7454;dbsnp18243;hgmd0613_2350 NP_689996;D2HDH_HUMAN;NP_689996.4 "A282T,A347T,A361V,A420T,A426T,D375Y,E463K,G355S,H220R,H356Y,I147S,L453F,N439D,N443S,R15G,R243K,R26W,R421H,R55Q,T298I,V338I,V444A" "0,0,0,0,1,1,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,1" 728294 6273 hgmd473;dbsnp3930;hgmd0613_848 NP_001908;NP_001908.3 "A36V,F90V,G331E,G331V,P54T,R199Q,R199W,S345F,W209R,Y144H" "0,0,0,0,0,0,1,0,0,0" 1610 9725 hgmd474;sw6156;evn1150;dbsnp14144;hgmd0613_1873 NP_060592;SYDM_HUMAN;NP_060592.2 "C152F,D560V,G63D,K196R,L10V,L29V,L548M,L613F,L626Q,L626V,N161D,N389K,P596R,Q184K,Q248K,R179H,R263Q,S45G,V324A,Y629C" "1,1,0,0,0,0,0,1,1,1,0,0,0,1,1,1,1,1,0,1" 55157 4633 hgmd475;sw8635;evn1001;dbsnp20871;hgmd0613_756 NP_001342;DAZL_HUMAN;NP_001342.2 "S14C,S251G,T12A,T54A" "0,0,0,0" 1618 10541 hgmd476;sw1881;evn751;dbsnp28347;hgmd0613_497 NP_000778;DOPO_HUMAN;NP_000778.3 "A211T,A211V,A318S,A362V,A506T,D114E,D290N,D345N,E181Q,E250Q,E591V,G12S,G152R,G164S,G482R,G510S,G88A,I28V,K239N,K514R,L317P,M15V,M190T,M273L,N201S,N548S,P140S,P607S,R178Q,R549C,R549H,R549L,R602Q,R6S,R79W,R92C,R92H,S402A,S402C,V101M,V195M,V26M,V298M,V85I,W544S" "0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 1621 4940 hgmd478;sw9398;spmut472;dbsnp787;hgmd0613_590 NP_001029027;DCR1C_HUMAN;NP_001029027.1 "A140V,D165N,G118V,G135E,H243R,H35D,K428N,L329M,M238I,P171R,P400H,P487S,P616T,R76T,S320C,T447K,T656I,V186L,V57F" "0,1,1,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 64421 4142 hgmd479;sw4641;spmut473;evn204;dbsnp18777;hgmd0613_1153 NP_004073;DCTN1_HUMAN;NP_004073.2 "A1031T,A1147V,A1178T,A163P,A494T,A65E,E1011D,E34Q,E539A,F1256L,G1050S,G1216A,G15S,G59S,G71A,G71E,G71R,I1073V,I196V,I935M,L1162F,L287M,L862P,M571T,N69S,P811R,Q74P,R1043C,R1049Q,R1101K,R149P,R149Q,R17K,R25Q,R411L,R495Q,R502C,R502S,R785W,S1112N,S184R,S675C,T1249I,T666M,T72P,T753M,V1087K,V1199I,V160L,V200A" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,0,0,0,0,0,0,1,0,0,1,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,1,0,1,0,0,0,0,0" 1639 1207 hgmd47;pmd33.1;pmd34.2;pmd574.2;pmd1625.1;pmd1846.1;pmd2559.2;pmd2560.1;pmd2928.1;pmd4238.1;sw1468;sws155;dbsnp16589;hgmd0613_8 NP_000013;ADA_HUMAN;NP_000013.2 "A179D,A215T,A329V,A37V,A83D,D8N,E217K,G140E,G20R,G216R,G239S,G74C,G74D,G74V,H15D,H197Q,K80R,L107P,L152M,L304R,M257T,M310T,P126Q,P274L,P297Q,Q199P,R101L,R101Q,R101W,R142Q,R149Q,R149W,R156C,R156H,R211C,R211H,R235Q,R253P,R76W,S21A,S291L,T233I,V129M,V177M" "1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1" 100 9334 hgmd480;evn399;hgmd0613_2425 NP_835366;NP_835364.1 "A168G,T14A,T281A,T293N,T293S" "0,0,0,0,0" 1641 3335 hgmd481;sw8517;spmut479;evn193;dbsnp2142;hgmd0613_81 NP_000098;DDB2_HUMAN;NP_000098.1 "A293T,A410T,F94C,I415V,K22M,K244E,L28R,L350P,M215T,M230T,R273H,R67H,V55A" "0,0,0,0,0,1,0,1,0,0,1,0,0" 1643 7996 hgmd482;dbsnp25901;dbsnp25902;hgmd0613_499 NP_000781;NP_000781.1;NP_001076440.1 "E61D,F103L,M217V,M239I,M239L,P210L,R462Q,V270I,V60I" "0,0,0,0,0,0,0,0,0" 1644 7736 hgmd483;sw5049;sws650;spmut482;evn577;dbsnp14670;dbsnp14671;hgmd0613_1468 NP_006173;DDR2_HUMAN;NP_001014796.1;NP_006173.2 "A383T,D678N,E113K,E375G,G466E,G505S,G550R,I159T,I726R,L63V,M390I,M441I,R478C,R680P,R752C,S461L,T713I,V393I,V543F" "0,0,1,0,0,0,0,0,1,0,0,0,0,0,1,0,1,0,0" 4921 2860 hgmd484;pmd111.1;sw2332;evn954;dbsnp19201;hgmd0613_852 NP_001918;DESM_HUMAN;NP_001918.3 "A213V,A337P,A357P,A360P,D312A,D399Y,E245D,E262V,E401K,G23S,I451M,K449M,K449T,L338R,L345P,L370P,L385P,N342D,N393I,Q389P,R350P,R355P,R406W,R454W,S13F,S2I,S460I,S46F,S46Y,S7F,T442I,T445M,T79A,V459I,Y423F" "0,1,1,1,0,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0" 1674 7197 hgmd485;sw4306;evn454;dbsnp19113;hgmd0613_613 NP_001036167;PJVK_HUMAN;NP_001036167.1 "A105T,A198D,A70T,D29G,F212Y,N303S,R183W,S275T,T135A,T54I,V104I" "0,0,0,0,0,0,1,0,0,1,0" 494513 9599 hgmd486;sw5055;evn26;dbsnp19438;hgmd0613_2245 NP_550438;DGUOK_HUMAN;NP_550438.1 "A2S,A3V,A89T,E227K,G224D,L250S,N154K,R142K,V67I,Y218C" "0,0,0,1,0,1,0,1,0,0" 1716 11318 hgmd487;sw4861;evn416;dbsnp14450;hgmd0613_1706 NP_055577;DHC24_HUMAN;NP_055577.1 "A288V,D508N,E191K,E206K,K306N,L20V,N294T,P244L,R246Q,R451S,V155M,Y471S" "0,0,1,0,1,0,1,0,0,0,0,1" 1718 6377 hgmd488;sw11247;evn31;dbsnp1549;dbsnp1550;hgmd0613_758 NP_001351;DHCR7_HUMAN;NP_001157289.1;NP_001351.2 "A247V,A24S,A385G,A67T,C183Y,C311G,C311Y,C380R,C380Y,D386E,E448K,E448Q,F235S,F255L,G138V,G147D,G244R,G303R,G344R,G410R,G410S,G425S,G70S,H119L,H405Y,H426P,I145L,I297T,I44T,I9F,K198E,L109P,L157P,L68P,L99P,N146K,N240S,P10A,P335R,P51S,Q107H,Q63H,R242C,R242H,R352Q,R352W,R362C,R404C,R404S,R443C,R446Q,R450L,S113C,S169L,S264G,S397L,S5L,T154M,T154R,T289I,T93M,V281M,V326L,V338M,V353A,W182C,W182L,W248C,Y324H,Y408H" "1,0,0,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,0,0,1,1,1,1,1,1,0,0,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1" 1717 7097 hgmd489;sw677;dbsnp4618;hgmd0613_1980 NP_066382;DHH_HUMAN;NP_066382.1 "A63G,L162P" "0,1" 50846 7356 hgmd48;sws30;evn1100;dbsnp7171;hgmd0613_668 NP_001101;ADA10_HUMAN;NP_001101.1 "A281V,C313R,H176R,H176Y,L301G,Q614R,R61H,R734S,T280A,V39M" "0,0,0,0,0,0,0,0,0,0" 102 3624 hgmd490;pmd112.1;sw4072;evn296;dbsnp7621;hgmd0613_759 NP_001352;PYRD_HUMAN;NP_001352.2 "A341V,D392G,G152R,G19E,G202A,G202D,G384R,K7Q,L23V,R135C,R199C,R244W,R346W,T284I" "0,1,1,1,1,1,0,0,0,1,1,1,1,1" 1723 8675 hgmd491;sw10797;dbsnp5226;hgmd0613_610 NP_001035982;DIAP3_HUMAN;NP_001035982.1 "E1041G,F773L,I159L,N363S,P578L,P588L,P596L,P614T,Q1044R,R1076H,R28H" "0,0,0,0,0,0,0,1,0,0,0" 81624 1435 hgmd492;sw11669;sws1315;spmut511;evn625;dbsnp5778;dbsnp5779;hgmd0613_2418 NP_803187;DICER_HUMAN;NP_085124.2;NP_803187.1 "A1185T,A131G,A1602T,A20V,A872T,D1421E,D1709E,D1709G,D1709N,D1810H,D1810N,D1810Y,D609Y,E1420D,E1422D,E1705K,E1813G,E1813K,E1813Q,G162D,H1661Y,I1110T,I569M,I853V,L1143P,L1202Q,L1583R,M1258T,M1261I,M605V,N408D,P375R,Q7R,R499T,R763K,S1224N,S1612H,S1631A,S1637L,S198A,S3N,S839F,S90N,T1155M,T1214A,T1267A,T599I,T915S,V1257M,V1626M,V610I,Y1225C,Y1438C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 23405 470 hgmd493;sw897;evn70;dbsnp29837;hgmd0613_760 NP_001354;DKC1_HUMAN;NP_001354.1 "A2V,A353V,D406E,E41K,E508D,F36V,G223D,G402E,G402R,G486R,H259P,H401Y,I226S,I38T,K39E,L317F,L321V,L56S,L72F,L72Y,M350T,P409L,P40R,R322Q,R65T,S121G,S422T,T49M,T66A" "1,1,0,1,0,1,0,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1" 1736 6400 hgmd494;sw1996;evn1146;dbsnp1500;hgmd0613_853 NP_001922;ODP2_HUMAN;NP_001922.2 "A16T,A194T,A210T,A43V,D313V,D381G,D451N,E19Q,E310K,L99F,P195S,Q209R,S98F,T417A,V128I,V318A,V534L,Y85C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1737 4613 hgmd495;sw1902;evn843;dbsnp25928;hgmd0613_82 NP_000099;DLDH_HUMAN;NP_000099.2 "A12T,A167V,D290G,G170S,G229C,I174V,I20V,I304T,I480T,I70V,K104T,K72E,L331V,N18S,P39L,P488L,Q25P,R19G,R263H,R495G,T194M,T276S,T345S,T34A,V148I" "0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,1,0,0,0,1,0,0,0,0,0" 1738 6477 hgmd496;evn854;dbsnp15243;hgmd0613_631 NP_001073887;NP_001073887.1 "A189V,A78G,G284S,G97S,P214L,P214Q,P345L,R311H" "0,0,0,0,0,0,0,0" 58512 2184 hgmd497;sw10992;dbsnp11139;hgmd0613_1816 NP_058637;DLL3_HUMAN;NP_058637.1 "A115T,F172C,G280R,G385D,L142Q,L218P,L359P,N364S,P226R,P580S,R308Q,S225N" "0,0,0,1,0,0,0,0,0,0,0,0" 10683 4933 hgmd498;sw4694;spmut515;evn592;dbsnp17486;hgmd0613_1566 NP_008999;DMC1_HUMAN;NP_008999.2 "A8L,A8Q,A8T,A8V,E16D,G150D,G50C,I288T,I301V,I48V,N178S,P152Q,P152S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 11144 9895 hgmd499;dbsnp29643;hgmd0613_1142 NP_003997;NP_003997.1 "A2010S,A2395T,A2923S,A573V,D1908V,D2770N,D518E,E1489K,E1826Q,E1874K,E2208G,E3032K,E577D,E991Q,F1388V,F3228L,G754V,H446R,I232M,K1149E,K1510R,K1721N,K2607M,L1365F,L1648V,L962V,M1006I,M1521I,N1672K,N797K,P1121S,P2860H,P2962L,P3011L,Q1469L,Q2491R,Q365H,R1028C,R1324C,R1728C,R1745H,R1957W,R2051W,R2108C,R2155W,R2415C,R2524H,R2951H,R3232S,R343H,R3673K,R563H,S1007L,S3224G,S666L,T1136S,T1245I,T1981M,T2441P,T2749A,T308N,T409S,T630A,T715S,T847A,V1626E,V2995I,V505L,V796I,Y1995F" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1756 91 hgmd49;dbsnp11617;hgmd0613_2130 NP_112219;NP_112219.2 "A117V,A422V,A862S,E73K,G1065S,H146Y,L808R,R119Q,R169Q,R239H,R62Q,S754F,T134S,T763S,V196E,V669L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81794 1669 hgmd4;sw3391;evn354;dbsnp7867;hgmd0613_793 NP_001596;SYAC_HUMAN;NP_001596.2 "A118G,A469T,E22K,E759K,F722L,G275D,G931S,K820R,K967M,L770M,N340S,N71Y,P234S,R329H,R729W,S342I,S731A,S731L,T562I,Y418C" "0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0" 16 2243 hgmd500;sw11383;evn681;dbsnp23066;hgmd0613_1647 NP_037523;M2GD_HUMAN;NP_037523.2 "A530G,C209Y,E845Q,F754S,H109R,K643E,L300F,N366S,P493L,R153Q,R344G,R506K,R638T,R770Q,S279P,S646P,T800M,Y298S" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 29958 2791 hgmd501;sw4459;dbsnp22209;hgmd0613_1196 NP_004398;DMP1_HUMAN;NP_004398.1 "A88V,D104V,D117N,D141N,G315R,H497N,I501T,K463R,L282I,Q159K,R272H,S242P,S27F,S384N,S69C,V333I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1758 6423 hgmd502;sw8288;evn462;dbsnp22940;hgmd0613_761 NP_001360;DYH5_HUMAN;NP_001360.1 "A1259T,A192T,A1982T,A2452T,A3157D,A3251S,A3456V,A3479T,A4134V,A560E,C3137Y,D1249N,D3154A,D3992H,D4523E,D86G,E1756K,E2177Q,E2347K,E2666D,E2810K,E2919D,E3068G,E550K,E895K,F2843S,F4392C,G100A,G1504R,G24E,G2560A,G2668R,G3519R,G4205V,H12Q,I1217T,I1765V,I2562F,I3573V,I3714V,I374T,I4116V,I4117V,I4224F,I4450V,I4567V,I766L,K1319E,K2581E,K3119E,K765N,L123F,L1418M,L1726P,L2222M,L2235V,L275R,L2862F,L3082I,L3826F,L572W,L591R,L591V,L734V,L815M,L95P,M1081V,M2935I,M3441I,M3486T,M4145I,N1420D,N2237S,N2911D,N2987I,N298K,N3235S,N402K,N549K,N751K,N821S,P2239S,P4488T,Q1172K,Q2463R,Q2477R,Q2949E,Q2949R,Q2979R,Q4137K,Q590R,Q620K,R1143H,R1219H,R1245H,R1458Q,R1654Q,R1716L,R1761G,R1805C,R2017W,R2425H,R2501P,R2713C,R2922H,R3077L,R3077Q,R30W,R3197Q,R3314H,R3767H,R3813W,R4127C,R4408G,R4429Q,R478Q,S1006G,S2264N,S3843L,S3854F,S3935T,S4166G,S4466N,T1875M,T1881M,T2251M,T2319M,T3491M,T372A,T3791I,T3831S,T417S,T4220A,T4344S,T4483M,T4518A,T4593M,T544I,T558A,V1101M,V1190I,V1509M,V209I,V2129L,V2307I,V3432L,V400M,V4237F,V4237I,W3409S,Y4308C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 1767 41 hgmd503;sw11389;dbsnp28972;hgmd0613_1604 NP_036276;DNAI1_HUMAN;NP_036276.1 "A60V,A8S,D114G,E174K,E210Q,G515S,G605R,H14Y,I391M,I508T,I682T,K184R,Q16R,Q326H,R124C,R332S,R650C,S159N,T535N,V335I,V393M,V487G" "0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27019 4076 hgmd504;sw2615;dbsnp7398;hgmd0613_1334 NP_005214;DNAS1_HUMAN;NP_005214.2 "A14V,A168V,A193V,A246P,C231Y,D129N,D190H,E35D,G127R,G262D,P154A,P219S,Q31E,Q60R,R107G,R133L,R133Q,R207C,R244Q,R2S,R53C,V111M,V114M,V185I,Y117S,Y46S" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0" 1773 10896 hgmd505;evn841;dbsnp23993;hgmd0613_2454 NP_919225;NP_919225.1 "A345T,E334K,E334Q,F252S,G162S,G230D,L183V,R225H,R234Q,S333T,T349S,W341C,Y105C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 373863 9579 hgmd506;sw340;spmut523;evn367;dbsnp4700;hgmd0613_1597 NP_036192;DNM1L_HUMAN;NP_036192.2 "A395D,A543V,E426D,G573A,G574S,G580A,G580S,I134V,I57V,I612F,K152Q,N138H,N141S,N569T,N98I,P547L,Q72P,S534Y,S552C,S563N,S572A,S572T,S71T,T78A,T79S,V244I,V570A,V577I,V581A,V581G" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10059 3732 hgmd507;sw3468;evn519;dbsnp11572;hgmd0613_553 NP_001005360;DYN2_HUMAN;NP_001005360.1 "A618D,A618T,C27W,D215N,E368K,E368Q,E560K,E650K,G537C,H80Y,K559N,K562E,L260V,L570H,L621P,M564V,N569H,P263L,P627H,P627R,P787S,R369Q,R369W,R453Q,R465W,R522C,R522H,R523G,R66W,S619L,S619W,S822N,S856N,V64I" "1,1,0,0,1,1,1,1,1,0,0,1,0,1,1,0,0,0,1,1,0,1,1,0,1,1,1,1,0,1,1,0,0,0" 1785 2769 hgmd508;sw11225;evn597;dbsnp16620;hgmd0613_1549 NP_008823;DNM3B_HUMAN;NP_008823.1 "A154V,A384T,A513V,A585V,A603T,A766P,D817G,F446S,G179V,G198E,G25R,G407S,G663S,H178R,H814R,L22F,L664P,P162A,P203L,R382C,R42C,R47K,R54P,R840Q,S270P,T156A,V296I,V606A,V699G,V726G,V818M,Y404C" "0,0,0,1,1,1,1,0,0,0,0,0,1,0,1,0,1,0,0,0,0,0,0,1,1,0,0,1,1,1,1,0" 1789 2543 hgmd509;sw7847;evn275;dbsnp28405;hgmd0613_2493 NP_982272;DOCK8_HUMAN;NP_982272.2 "A1252P,A1579G,A1736V,A1970P,A219V,A229P,A22V,A318T,A329V,A597V,A768G,A828T,A889V,D1018N,D198E,D221E,D372G,D63N,E1104D,E169K,E1707D,E237K,F1113L,G1177V,G2098D,H1105D,H1513Q,I1020V,I1023V,I1090V,I1189V,I126M,I279V,K2048N,K473R,L1330V,L528M,L875P,M2022V,M901I,N1070D,N1108S,N1428S,N413S,N520S,P1038L,P364S,P58R,P608R,P949T,P97T,Q311H,R1008Q,R1008W,R1073K,R1154C,R1201C,R1239S,R127C,R127H,R151Q,R1575K,R209Q,R398Q,S1077N,S165L,S942N,S943N,T1118A,T1121A,T1943I,V1276L,V1521I,V184M,V194I,Y1340C,Y1871C,Y338F,Y564C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81704 378 hgmd50;sw6543;dbsnp28438;hgmd0613_2280 NP_620594;ATS13_HUMAN;NP_620594.1 "A1033T,A20T,A250V,A307T,A564D,A596V,A606P,A732V,A76T,A900V,C1024G,C1213Y,C311Y,C347S,C508Y,C758R,C908S,C908Y,C951G,D187H,D235H,D500A,E136K,E740K,G1239V,G1276R,G525D,G752S,G982R,H234Q,H96D,I143V,I178T,I673F,I79M,L232Q,P1171S,P341L,P353L,P457L,P475S,P618A,P671L,Q448E,Q456H,R102C,R1060W,R1095W,R1096H,R1123C,R1149W,R1219W,R1247W,R1336W,R193W,R268P,R349C,R386C,R386H,R386S,R398H,R421C,R488Q,R507Q,R528G,R544S,R59C,R602C,R625H,R639C,R659K,R692C,R7W,R943W,R979Q,S119F,S1314L,S203P,S263C,S62P,S903L,T1226I,T167M,T196I,T339R,V195I,V604I,V832M,V849I,V88M,V896M,V964M,W390C,Y304C,Y658C" "0,0,1,0,0,1,1,0,0,0,1,1,1,1,1,1,1,1,1,0,1,0,0,0,1,0,1,0,0,1,1,0,1,1,1,1,0,0,1,1,0,0,1,0,1,1,1,1,0,1,0,1,0,1,1,1,1,0,0,0,1,0,0,1,1,0,0,0,0,0,0,1,0,0,0,1,1,1,1,0,1,0,0,1,0,0,0,0,0,1,0,0,1,1,1" 11093 942 hgmd510;sw5078;spmut530;dbsnp22112;hgmd0613_2396 NP_775931;DOK7_HUMAN;NP_775931.3 "A302P,A307T,A33V,A99V,D197N,E60K,G180A,G223E,G379R,G427D,G461D,G479S,H272Q,I199S,I48T,P214L,P390S,P415S,P420A,P469H,Q296R,R158Q,R261C,R261H,R402W,R432K,R451W,S193G,S271T,S344N,S45L,T294M" "0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,1,0" 285489 6573 hgmd511;sw11654;spmut531;evn1060;dbsnp29062;hgmd0613_1715 NP_055723;DOLK_HUMAN;NP_055723.1 "A442T,A504T,C99S,D224V,D494G,F372I,F391L,I419M,I484V,M234V,P15L,P6L,Q428R,R211C,R465H,T101A,V121G,Y360C,Y441S" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 22845 6008 hgmd512;sw10226;sws1139;evn1124;dbsnp1509;hgmd0613_763 NP_001373;GPT_HUMAN;NP_001373.2 "F332V,I393V,L401F,V370I,Y170C" "0,0,0,0,1" 1798 8422 hgmd513;sw886;evn234;dbsnp16778;hgmd0613_1119 NP_003850;DPM1_HUMAN;NP_003850.1 "L4W,R14W,R92G,S248P,S52C,S7G,T260I" "0,0,1,1,0,0,0" 8813 11695 hgmd514;sw11215;hgmd0613_2371 NP_714963;DPM3_HUMAN L85S 1 54344 14740 hgmd515;sw4349;dbsnp13464;hgmd0613_83 NP_000101;DPYD_HUMAN;NP_000101.2 "A450V,C29R,D1000N,G936C,I543V,I636L,K259E,K290E,K861R,L352V,M166V,P92A,Q972R,R235W,R394L,R592Q,R886H,S534N,S994T,V1021L,V732G,V732I,V995F" "0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,1" 1806 1998 hgmd516;sw4611;evn49;dbsnp27962;hgmd0613_764 NP_001376;DPYS_HUMAN;NP_001376.1 "D38Y,G410A,G435R,N313Y,Q334R,R481Q,R490T,S92A,T456M,T68R,V364M,V497I,W360R" "0,0,1,0,1,0,1,0,0,1,1,0,1" 1807 4210 hgmd517;pmd2436.1;pmd2437.1;pmd2438.1;pmd2439.2;pmd2440.1;pmd4263.1;sw2179;evn339;dbsnp1760;hgmd0613_501 NP_000786;DRD2_HUMAN;NP_000786.1 "A177T,A234S,D333N,K327E,P310S,R104K,R360H,S157A,S311C,V154I" "0,0,0,0,0,0,0,0,0,1" 1813 7703 hgmd518;dbsnp1758 NP_000788;NP_000788.2 "A281P,A50E,A78T,A84T,E406D,G11R,R412L,W387G" "0,0,0,0,0,0,0,0" 1815 7252 hgmd519;sw2505;spmut544;dbsnp21864 NP_000789;DRD5_HUMAN;NP_000789.1 "A269V,A277G,A286S,A286T,A286V,C322R,C62S,D211N,E327K,F207V,F438S,G110E,H268Q,L315P,L88R,M75T,N74K,P330Q,Q366R,R247H,S233N,S453C,T297P,V238I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1816 7053 hgmd51;sw6792;evn322;dbsnp29177;dbsnp29178;hgmd0613_1703 NP_055509;ATL2_HUMAN;NP_001138792.1;NP_055509.2 "A165T,A18V,A239T,A465T,A587T,C171R,C753R,E114K,G41A,G811R,I205V,I342V,L539P,P147L,P844A,P906L,R113H,R159W,R221C,R593C,R72Q,S635L,T30A,T435A,V20I,V364I,W50C" "1,0,1,0,0,1,0,1,0,1,0,0,0,1,0,1,1,1,1,1,1,1,0,0,0,0,1" 9719 2328 hgmd520;sw4090;dbsnp10383;hgmd0613_2067 NP_077740;DSC2_HUMAN;NP_077740.1 "A592V,A596V,C709Y,D879G,E102K,F58V,G468S,H791N,I231T,I776V,N11S,Q638H,R203C,R798Q,S794L,T275M,T340A,T358I,V597F,V772M" "0,0,0,0,1,0,0,0,1,0,0,0,1,0,0,1,1,0,0,0" 1824 2609 hgmd521;sw4613;evn218;dbsnp10411;hgmd0613_854 NP_001934;DSG2_HUMAN;NP_001934.2 "C507Y,C871Y,E511Q,G679D,G812C,H790Y,I293V,K451E,K849M,K856N,L632M,M863L,N525Y,R146L,R46Q,R49H,R773K,S400R,T1070K,T1099A,T335A,T903I,V1011A,V158G,V20I,V515I,V56M,V585I,V920G,V987F,Y89C" "1,0,0,0,1,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,1,0,0,1,0,0,1,0,1,0,0" 1829 1662 hgmd522;sw6774;evn361;dbsnp10476;hgmd0613_2422 NP_817123;DSG4_HUMAN;NP_817123.1 "A154T,A342V,A755T,A789V,C494R,C697W,D319N,D378N,D590E,D926G,E984D,G1014S,G400R,G796V,G912S,H902R,I439T,I535T,I644L,M1007T,M1023I,M208T,N327S,N496S,N932S,P523L,P669S,P916Q,Q366R,R133Q,S1008N,S79L,S880T,T182I,T389A,T38S,T423I,T765A,T982M,V900L,V900M,Y788C,Y911H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147409 1860 hgmd523;sw2247;spmut492;evn895;dbsnp24693;hgmd0613_1197 NP_004406;DESP_HUMAN;NP_004406.2 "A1505V,A1584T,A1688V,A2088T,A2294G,A566T,C81Y,D2070N,D230N,E1723Q,E1740K,E1833V,E1956D,E2002D,G1102R,G1102S,G223S,G2375R,G748A,H1679Q,I1430V,I18T,I2869V,I305F,I445V,I679M,K1974N,L1206I,L2039F,L326F,L429P,L851P,L851Q,L902V,M2573L,M2819L,N1526K,N1561S,N1726K,N1771H,N287K,N287S,N593S,P2823A,Q1321H,Q1788R,R1255K,R1458G,R1485S,R1497W,R1537C,R1738Q,R1775I,R1915H,R2366C,R2639Q,R866C,R908H,R925Q,R925W,S1841A,S2131A,S2514T,S2856T,S299R,S63Y,S840C,S935N,T1381S,T2767N,T59S,V1530F,V2107L,V2599I,V999I,Y1188H,Y1512C,Y494F,Y763C" "0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,1,0,0,0,0,1,0,1,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1832 163 hgmd524;sw11090;dbsnp22028;hgmd0613_1666 NP_055023;DSPP_HUMAN;NP_055023.2 "A15V,D1270N,D243N,G268W,G850S,I131T,N1248D,P17S,P17T,P231T,R354C,R858S,S601I,V18F,V420A,Y6D" "1,0,0,0,0,0,0,1,1,0,0,0,0,1,0,1" 1834 1164 hgmd525;evn575;dbsnp10350;hgmd0613_2193 NP_116760;NP_116760.2 "A180E,D464N,H103Q,H403Y,L299I,L375M,M319V,N373S,P450Q,P450T,P451A,P451T,Q106E,R521H,S446T,S455T,S79A,T74I,V132A,V334M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1837 3679 hgmd526;sw10720;evn672;dbsnp6390;hgmd0613_1660 NP_054799;DUOX2_HUMAN;NP_054799.4 "A1014V,A1123T,A1131T,A1277G,A472D,A728T,A984S,C1052Y,D143E,D1440E,D451N,D932N,E1017G,E641K,E902K,G1354A,G146E,G1518S,G21D,H627R,I1163V,L634V,L708I,M1019V,M822V,N950S,P1350L,P138L,P303R,P982A,Q1434R,Q36H,R1009Q,R1116H,R1213C,R1510C,R317H,R376W,R516H,R701Q,R764W,R808K,R969Q,S1067L,S1403T,S795C,V1035M,V103L,V1078M,V1187I,V53D,V738M,W178L,W734R,Y1286H" "0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50506 777 hgmd527;sw6601;spmut556;evn542;dbsnp10605;hgmd0613_1836 NP_060123;DYM_HUMAN;NP_060123.3 "A106T,A270V,A651P,C542R,E15Q,E87K,I167N,I399T,N469Y,Q593R,R568Q,S141G,S322P,S48T,S585T,Y220H" "0,0,0,1,0,1,0,0,1,0,0,0,0,0,0,0" 54808 4377 hgmd528;dbsnp1468;hgmd0613_635 NP_001073932;NP_001073932.1 "A2961T,A3687V,A4010T,D2521A,D3619H,E3296Q,E954K,F421L,G4296R,H242R,H2518Y,H341Y,I1897T,I1922T,I2400V,K1413R,L1931F,L2852V,L437V,N1576K,Q304L,Q3250R,Q4146P,R2871Q,R4092H,R456Q,R789K,S3983N,T1288A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79659 64 hgmd529;sw1114;sws123;dbsnp18557;hgmd0613_1075 NP_003485;DYSF_HUMAN;NP_003485.1 "A1072P,A1559T,A170E,A350V,A425V,A596V,A698V,A783V,A84V,C1361R,C1678S,C1942G,C456W,D1459G,D1837N,D1876N,D390N,D625Y,D863A,E1335K,E1734G,E1748V,E389Q,G128E,G1543D,G155R,G1679E,G1688A,G178R,G1842D,G1967S,G234E,G299E,G299R,G299W,G335A,G426R,G426V,G519R,G618R,G621R,G761S,H1857R,I1208M,I1298V,I1325V,I1607T,I1607V,I284T,I834V,K1526T,K656E,K983T,L1228P,L1276V,L1341P,L189V,L1922P,L266P,L685V,L890F,M451I,M451V,M626T,M968L,N1351S,N236T,N411K,P1029L,P1400A,P1400S,P143Q,P1739Q,P1970S,P2068L,P233L,P731R,P791R,Q1323E,R1038Q,R1041C,R1046H,R1095C,R1096H,R1242H,R1254W,R1331L,R1581H,R1693Q,R1693W,R1717W,R1768W,R1796W,R2000Q,R2042C,R253Q,R253W,R555W,R582W,R684W,R744C,R778C,R808Q,R819Q,R959W,S1434L,S340R,S503L,T1305K,T1365M,T1532M,T1662R,T166P,T208A,V1504I,V224I,V226M,V398M,V67D,V68L,W52R,W930C,W999C,Y1505C" "0,0,1,0,0,0,0,0,0,1,1,1,1,0,1,1,0,1,0,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,0,1,1,1,1,1,0,1,1,1,0,0,0,1,0,1,0,0,1,1,1,0,1,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,1,0,1,1,0,1,1,1,0,0,0,0,0,0,1,1,1,1,0,1,1,0,0,1,0,0,0,0,0,0,1,0,1,0,0,0,0,1,0,0,0,0,0,0,1,0,1,1,1,1" 8291 369 hgmd52;dbsnp13552;hgmd0613_669 NP_001102;NP_001102.2 "A189V,G219A,H354Y,I335F,K384R,P193A,S611C,Y587C" "0,0,0,0,0,1,0,0" 103 1340 hgmd530;pmd4270.2;sw4832;spmut570;dbsnp30221;hgmd0613_1521 NP_006570;EBP_HUMAN;NP_006570.1 "E80K,G114V,R110Q,R147G,R147H,R171C,R171H,S133R,T217M" "1,0,1,1,1,0,0,1,0" 10682 12314 hgmd531;pmd4338.2;pmd4339.1;pmd4340.2;pmd4341.3;sw3194;spmut571;evn853;dbsnp13309;hgmd0613_765 NP_001388;ECE1_HUMAN;NP_001388.1 "A299T,E173K,I191V,I378V,N554S,P757L,R387K,R680W,R754C,R754H,S462N,T341I,T354A,W630R" "0,0,0,0,0,0,0,0,1,0,0,0,0,0" 1889 2698 hgmd532;sw5002;evn552;dbsnp12915;hgmd0613_1198 NP_004416;ECM1_HUMAN;NP_004416.2 "A44T,D367V,F167I,F345I,G415S,G528R,I479F,I501M,P169A,R282Q,R448H,R477C,R53Q,S535F,T130M,V431I" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 1893 5593 hgmd533;sw8614;sws970;spmut576;dbsnp30515;hgmd0613_766 NP_001390;EDA_HUMAN;NP_001390.1 "A349T,A356D,A356V,C332Y,C346Y,C60R,D298H,D298Y,E63K,F302S,G189E,G198A,G207R,G207V,G218D,G224A,G255C,G255D,G269V,G291R,G291W,G299D,G299S,G381R,H252L,H252Y,H54Y,I360N,K158N,L266R,L293P,L296V,L354P,L55R,M373I,N372D,P209L,Q306H,Q358E,R153C,R153H,R155C,R156C,R156G,R156H,R156S,R357P,R65G,R69L,S319R,S374R,T211R,T338M,T378M,T378P,V307G,V323G,W274G,W274R,Y320C,Y343C,Y61H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 1896 8766 hgmd534;sw11614;spmut575;evn144;dbsnp18730;hgmd0613_2022 NP_071731;EDAR_HUMAN;NP_071731.1 "A242T,A369P,A76V,C148R,C47Y,C7Y,C87R,D110A,F171L,G382S,I408F,I418T,L377F,M107V,N335T,R25Q,R358Q,R375H,R420Q,R89H,R98Q,S380R,T10K,T346M,T403M,T413P,V15I,V203I,V246M,V437F,W434C,W434R" "0,0,0,1,1,0,1,1,0,1,1,1,1,0,0,0,1,1,1,1,1,0,0,0,1,1,0,0,0,0,1,1" 10913 7619 hgmd535;evn241;dbsnp15325 NP_542776;NP_542776.1 "R56L,V14A" "0,0" 128178 12637 hgmd536;pmd3020.1;sw1703;dbsnp24255 NP_001946;EDN1_HUMAN;NP_001946.3 "L160F,V186I,V80I" "0,0,0" 1906 12690 hgmd537;sw2167;evn418;dbsnp16600;dbsnp16601;hgmd0613_2498 NP_996917;EDN3_HUMAN;NP_000105.1;NP_996917.1 "A17T,A224T,A84E,A85G,C159F,R154Q,R230H,R31S,V125L,Y127C" "1,1,0,0,1,0,0,0,0,1" 1908 12159 hgmd538;sw2605;evn831;dbsnp4892;dbsnp4894;hgmd0613_87 NP_000106;EDNRB_HUMAN;NP_000106.1;NP_001116131.1 "A183G,A60T,D34A,D34E,F112V,F292L,L17F,L7Q,M374I,P383L,P5T,R319W,R76M,S305N,T244M,V260F,V260I,W276C,W54R" "1,0,0,0,0,1,0,0,1,1,0,1,0,1,0,0,0,1,0" 1910 6103 hgmd539;sw1402;evn665;dbsnp1476;hgmd0613_1815 NP_058634;FBLN4_HUMAN;NP_058634.4 "C267Y,D117N,D119E,E324D,E57K,G93S,H268Q,I259V,I320V,I72V,P47S,P96S,R169H,R279C,T312A,V316L,V87I,Y319C" "1,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0" 30008 7620 hgmd53;evn1000;dbsnp21785 NP_000659;NP_000659.2 "G271S,I65T,N57K,R272Q,R313H,R370H,S368R,T60S,V64A,W16R" "0,0,0,0,0,0,0,0,0,0" 125 8715 hgmd540;sw5500;evn1115;dbsnp24358;hgmd0613_1869 NP_060570;EFHC1_HUMAN;NP_060570.2 "A394S,A88V,C259Y,D210N,D210V,D253Y,E357K,F103C,F229L,H162Y,I174V,I619L,K18N,M448T,N607S,P77T,R159G,R159W,R182H,R221H,R244Q,R260Q,R285I,R294H,R296H,R353W,R421C,S32G,V297M" "1,0,1,1,0,1,0,0,1,0,1,0,0,0,0,1,0,0,0,1,0,0,0,0,0,1,0,0,0" 114327 4689 hgmd541;sw5484;dbsnp29758;hgmd0613_2106 NP_079460;EFHC2_HUMAN;NP_079460.2 "A731V,C57Y,E208K,E507Q,I470V,K54N,N305S,N31S,R132W,S430Y" "0,0,0,0,0,0,0,0,0,0" 80258 3614 hgmd542;sw3992;evn216;dbsnp30057;hgmd0613_1199 NP_004420;EFNB1_HUMAN;NP_004420.1 "A170V,C153S,C153Y,E105G,G151S,G151V,I161V,I62T,L98S,M158I,M158V,M191T,P119H,P119S,P119T,P27R,P54L,Q115P,R154H,S138F,S182R,S198G,S226G,T111I,T137A,T155P,T172M,V189A,V189I" "0,1,1,0,1,1,0,1,1,1,1,0,1,1,1,1,1,1,0,1,1,0,0,1,1,1,0,0,0" 1947 9751 hgmd543;sw10020;spmut584;dbsnp15423;hgmd0613_2013 NP_071334;EGLN1_HUMAN;NP_071334.1 "D4E,P317R,R371H,S420L" "0,1,1,0" 54583 8010 hgmd544;pmd1090.2;pmd4336.1;sw2030;evn715;dbsnp1048;dbsnp1049;dbsnp1050;hgmd0613_331 NP_000390;EGR2_HUMAN;NP_000390.2;NP_001129649.1;NP_001129650.1 "A278T,A467P,D355V,D383Y,I268N,M64I,N457S,P148S,R359W,R381C,R381H,R409W,S460T,T215M,V447M" "0,0,1,1,1,0,0,0,1,1,1,1,0,0,0" 1959 7072 hgmd545;sw10414;sws1158;spmut587;dbsnp28960;hgmd0613_2089 NP_079033;EHMT1_HUMAN;NP_079033.4 "A104V,A167T,A177P,A388T,A43G,A624T,G84D,I899V,I91L,K379E,M48L,M48V,P176S,P192L,P194L,Q106E,R1230C,R1230G,R246Q,S1004N,S146L,T110N,T966P,V1006M,V651M,V956I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79813 1170 hgmd546;sw11056;evn428;dbsnp18023;hgmd0613_1274 NP_004827;E2AK3_HUMAN;NP_004827.4 "A160D,A422T,A704S,D566G,D566V,E672K,G584E,H783P,I586L,K187R,N286S,N478H,P716L,Q166R,R240H,R588Q,R698S,R99Q,S136C,V132M,V913M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 9451 1670 hgmd547;sw4647;evn316;dbsnp4646;hgmd0613_768 NP_001405;EI2BA_HUMAN;NP_001405.1 "A79T,N208Y,V142M,V228A" "0,1,0,0" 1967 10746 hgmd548;sw3420;evn762;dbsnp5914;hgmd0613_1669 NP_055054;EI2BB_HUMAN;NP_055054.1 "A127V,E213G,G26R,G329V,I328V,K179Q,K273R,M148T,Q130H,R183Q,R50C,R50H,S171F,V164G,V316D" "0,1,0,1,0,0,1,0,0,0,0,0,1,0,1" 8892 9619 hgmd549;sw10703;evn389;dbsnp15493;hgmd0613_1936 NP_065098;EI2BG_HUMAN;NP_065098.1 "A87V,D288E,I211V,I75T,K328R,P327S,R155H,R225Q" "1,0,0,0,0,0,0,1" 8891 7543 hgmd54;sw1430;dbsnp21671 NP_000660;ADH1G_HUMAN;NP_000660.1 "G118S,I350V,P166S,P352T,R364H,R370C,R48H" "0,0,0,0,0,0,0" 126 8715 hgmd550;evn61;dbsnp19190;hgmd0613_1765 NP_056451;NP_056451.3 "A116S,A92V,R305G,R87G,S65C" "0,0,0,0,0" 8890 5955 hgmd551;sw4417;evn50;dbsnp20023;hgmd0613_1129 NP_003898;EI2BE_HUMAN;NP_003898.2 "A100V,A645V,C112W,E536D,E650K,G386V,I587V,L106F,N200T,P538L,Q695R,R113H,R121Q,R195C,R195H,R299H,R315G,R315H,R339P,R339Q,R339W,R401Q,R638H,S429C,T91A,V430A,V73G,W628R" "0,0,0,0,1,1,0,1,0,0,0,1,0,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1" 8893 3867 hgmd552;sw9568;dbsnp9154;hgmd0613_1874 NP_060597;RNZ2_HUMAN;NP_060597.4 "A541T,D436N,E622V,G487R,G802S,G806R,H383Y,R211Q,R781H,S217L,S490A,S52F,S627L,V234I,V642M,Y75C" "0,0,0,0,0,1,0,1,1,0,0,0,0,0,0,0" 60528 3051 hgmd553;pmd884.1;sw1825;dbsnp12024;hgmd0613_858 NP_001963;ELNE_HUMAN;NP_001963.1 "A166T,A25V,A57T,C151S,C55Y,C71R,C71S,G210R,G210V,G214R,G32V,G85E,I60T,P139L,P205R,P260T,P262L,P262S,R191Q,S126L,V101L,V101M,V177F,V219I,V98L" "1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,0,1,1,1,0,1,1,1,0" 1991 11536 hgmd554;sw2399;spmut592;evn342;dbsnp29653;dbsnp29654;hgmd0613_1337 NP_005220;ELK1_HUMAN;NP_001107595.1;NP_005220.2 "E268D,G144S,I119V,P172A,P173S,S183N,V127A" "0,0,0,0,0,0,0" 2002 5038 hgmd555;pmd692.1;sw3453;spmut593;dbsnp29736;hgmd0613_89 NP_000108;EMD_HUMAN;NP_000108.1 "D149H,G156S,G216R,P183H,P183T,Q133H,R203H,S189P,S54F" "0,0,0,1,1,1,0,0,1" 2010 11813 hgmd556;sw10741;dbsnp21979;hgmd0613_2146 NP_114095;ENAM_HUMAN;NP_114095.2 "A772D,D1136H,D767G,D891V,F576L,G195V,G389S,I552M,I648T,N281K,P1093S,P256T,P724L,R360Q,R763Q,R843S,R946T,S1107N,S840Y,T758P,V466I,Y394F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10117 1573 hgmd557;dbsnp28584;hgmd0613_90 NP_000109;NP_000109.1 "A60D,D366H,G191D,G509A,G545S,P130S,P131L,Q625E,R571H,S615L,V504M" "0,0,0,0,0,0,1,0,0,1,1" 2022 4501 hgmd558;evn176;dbsnp8621;dbsnp8622;hgmd0613_2224 NP_443739;NP_001967.3;NP_443739.3 "D238Y,G55A,K239T,N68H,N70S,N71K,N71S,Q79E,V290I,V332I,V85A" "0,0,0,0,0,0,0,0,0,0,0" 2027 7873 hgmd559;pmd849.1;sw2526;dbsnp24494;hgmd0613_1474 NP_006199;ENPP1_HUMAN;NP_006199.2 "A205E,D175N,D538H,E668K,F708L,G266V,G342V,G586R,K173Q,L579F,L611V,L91P,N179S,N746H,P250L,P305T,R886T,S287F,S875F,T209M,T705M,T779P,Y268H,Y371F,Y471C,Y901S" "0,0,1,0,0,1,1,1,0,1,0,1,0,0,1,1,0,1,0,0,0,0,0,1,1,1" 5167 2463 hgmd55;sw4941;spmut53;evn657;dbsnp20947;dbsnp20948;hgmd0613_1268 NP_004788;ADIPO_HUMAN;NP_001171271.1;NP_004788.1 "A108V,A161V,E64G,G38D,G54V,G84R,G90S,H241P,I125V,I164T,L9Q,R112C,R221C,R221S,R55C,V117M,V123I,Y111H" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 9370 12024 hgmd560;sw9523;spmut605;evn1019;dbsnp19274;hgmd0613_770 NP_001421;EPAS1_HUMAN;NP_001421.2 "A553V,A805T,D753E,E713D,F374Y,F540L,G537R,G537W,G724E,H445P,I498T,L662V,M368I,M535T,M535V,N209S,N636K,P534L,P666L,P670R,P749H,P752L,P785T,Q809H,R14K,R658H,S49Y,T766I,T766P" "0,0,0,0,1,1,1,1,0,0,0,0,0,1,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 2034 2770 hgmd561;evn556;dbsnp15446;hgmd0613_1201 NP_004428;NP_004428.1 "A501T,A586T,D201Y,E582K,G358D,H321R,I477V,K437R,L475P,P82S,R67C,T356A,T373A,T520I,V12I,V5I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2035 2804 hgmd562;dbsnp6809;hgmd0613_91 NP_000110;NP_000110.2 "A140V,A567T,D116Y,E588K,G348V,G372D,G493S,H619Q,I419L,P24S,R224C,R224H,R243C,R457C,R80C,S10L,S30N,S639I,T405M,V712I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2038 3868 hgmd563;sw2276;spmut606;dbsnp18247;hgmd0613_923 NP_002345;EPCAM_HUMAN;NP_002345.2 "C66Y,I193V,I277M,M115I,M115T,Q89H,R163W,S102G,T172M,T17K" "1,0,0,0,0,0,0,0,0,0" 4072 10312 hgmd564;sw2743;sws310;spmut607;dbsnp13273;hgmd0613_1200 NP_004422;EPHA2_HUMAN;NP_004422.2 "A216T,A275T,D232G,D496N,E825K,G391R,G662S,G948W,K99N,M59L,M631T,P350T,Q968H,R175C,R315Q,R428H,R561K,R568H,R721Q,R792W,R82S,R860H,R876H,S277L,T511M,T940I,V165M,V364I,V541M,V747I" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0" 1969 2200 hgmd565;pmd365.1;sw2941;spmut926;dbsnp27383 NP_001970;HYES_HUMAN;NP_001970.2 "A546P,C154Y,D335Y,D413N,E470G,G21A,I375M,K55R,K89R,M369V,P225L,P259S,P433L,P550L,R103C,R130C,R130H,R249H,R287W,R52Q,R52W,V551L,Y166C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2053 5763 hgmd566;sw1268;spmut612;evn850;dbsnp25600;hgmd0613_1406 NP_005661;EPM2A_HUMAN;NP_005661.1 "A227V,A46P,D215V,D49A,E114D,E210K,E28K,F84L,F88L,G240S,G279S,I126V,K140N,L310W,M190K,N148Y,N163S,P246S,P301L,Q200H,Q293L,R108C,R171H,R241Q,R31H,R91P,S25P,T187A,T194I,T83M,W32G,Y294N" "0,0,0,0,0,1,1,1,1,1,1,0,1,1,0,1,0,0,1,0,1,1,1,0,0,1,1,1,1,0,1,1" 7957 10105 hgmd567;sw2391;spmut615;evn325;dbsnp12158;hgmd0613_92 NP_000112;EPOR_HUMAN;NP_000112.1 "A99V,G212C,G46E,N487S,P380A,P488S,R437H,S78T,V261L" "0,0,0,1,0,1,0,0,0" 2057 6497 hgmd568;pmd118.1;sw2064;evn560;dbsnp9040;hgmd0613_409 NP_000493;PERE_HUMAN;NP_000493.1 "A133V,A249E,A82V,C39Y,E174K,F308L,G514D,G680S,H450P,H496Q,I40M,K276R,K441T,N572Y,P292L,P358L,Q122H,Q60E,R108W,R146H,R189G,R286H,R299C,R324W,R326H,R326L,R326P,R328Q,R340C,R364H,R546W,R591Q,R645Q,V15I,V35I,V458M,V510M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8288 3657 hgmd569;dbsnp11530;hgmd0613_2488 NP_973730;NP_973730.1 "A265T,A266T,A64V,N299T,P77H,R322C,S267P,S52L" "0,0,0,0,0,0,0,0" 2067 10309 hgmd56;pmd576.2;pmd577.1;pmd1277.1;pmd1278.2;pmd1279.3;pmd1288.2;pmd1683.1;pmd1779.1;pmd1780.1;pmd1901.1;pmd1902.1;pmd1934.4;pmd1935.5;pmd1936.1;pmd1937.1;pmd2179.2;pmd2681.1;pmd2682.1;pmd3319.1;pmd3447.1;pmd3448.1;pmd3449.2;pmd3962.1;pmd4584.1;pmd4585.1;pmd4586.1;dbsnp23197;hgmd0613_10 NP_000015;ADRB2_HUMAN;NP_000015.1 "F240L,G257R,G383R,M1V,N15S,Q370H,S220C" "0,0,0,0,0,0,0" 154 8311 hgmd570;pmd3294.1;sw2349;spmut622;evn606;dbsnp10791;hgmd0613_332 NP_000391;ERCC2_HUMAN;NP_000391.1 "A163T,A172P,A182V,A594P,A635V,A717G,A725P,C259Y,C663R,D234N,D312N,D423N,D673G,D681N,E747Q,F448S,G47R,G602D,G675R,G687A,G713R,H201Y,I199M,K751Q,L461V,L485P,L760C,Q759S,R112H,R143Q,R186H,R227C,R487G,R487Q,R511Q,R592P,R601L,R601W,R616C,R616P,R616W,R631H,R647L,R658C,R658G,R658H,R666W,R683Q,R683W,R722W,S541R,T150S,T76A,V447I,V536M,Y16C,Y542C" "0,0,0,1,0,0,1,1,1,1,0,0,1,1,0,0,1,1,1,0,1,0,0,0,1,1,0,0,1,0,0,0,1,0,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,0,1,0,0,0,1" 2068 3515 hgmd571;pmd3008.1;pmd3009.1;pmd3923.1;sw2403;sws264;spmut623;evn504;dbsnp18738;hgmd0613_93 NP_000113;ERCC3_HUMAN;NP_000113.1 "A694S,A694T,C180S,E48D,F99S,G402C,H172P,I401V,K117R,N173F,R174T,R283C,S226G,S335L,S704L,S735P,T119P,T236I,V177I" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 2071 3336 hgmd572;sw8629;evn435;dbsnp7471;hgmd0613_1338 NP_005227;XPF_HUMAN;NP_005227.1 "A109T,A168G,A168V,A860D,C745G,D422E,E367Q,E502K,E875G,F544Y,G513R,G703D,G912E,I225M,I529T,I706T,I717T,I873V,K601T,L608P,P379S,Q496H,Q5L,R153P,R267L,R415Q,R454W,R477W,R490Q,R576T,R589W,R754H,R799W,S465P,S521R,S662P,S747F,S768F,T567A,V178L,V33L,V536L,V81F,V81I,Y344F" "0,0,0,0,0,0,0,1,0,0,1,0,0,1,1,0,0,0,0,1,0,0,0,1,0,0,1,0,1,0,1,0,1,0,0,0,0,0,1,0,0,0,0,0,0" 2072 2514 hgmd573;dbsnp4914;hgmd0613_94 NP_000114;NP_000114.2 "A1036T,A1119V,A376V,A627E,A761T,C529S,D1104H,E399K,F272S,F670L,M254V,N879S,P19L,P571S,Q1002R,Q256R,Q680R,R1009H,R1080Q,R214C,R214H,R263Q,R386Q,R420H,R45H,R959S,S311C,T344A,T411M,T443S,V145I,V590I,V597L,V940M,Y242C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2073 696 hgmd574;pmd1426.1;sw4129;sws504;evn777;dbsnp287;hgmd0613_95 NP_000115;ERCC6_HUMAN;NP_000115.1 "A298T,A731S,D1249N,D1273G,D1355E,D386E,D38G,D425A,D935H,E1194G,E1408A,E382G,E387K,F1217C,F1339L,G1077R,G1322V,G1372R,G1382R,G1410R,G289A,G399D,G410D,G446D,G601S,G855S,H1477R,I1021V,I1061M,I75V,K255T,K286N,L224F,L871P,L987P,M1097V,M1140R,N1131D,N1365K,N680D,P1042L,P1095R,P1383A,P591L,P694L,Q1041P,Q1413R,Q278E,R1159G,R1213G,R1230P,R134W,R241C,R296G,R479C,R479H,R666C,R670W,R683Q,R837H,R975Q,S1161R,S1161T,S135L,S687L,S797C,T1220I,T1347A,T1441I,T699M,T905I,T914M,T942M,V1063I,V1262M,V127A,V129M,V1308L,V785I,V957G,V986M,W686C,W851R,Y1002C,Y932C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,1,0,0" 2074 838 hgmd575;sw4433;evn644;dbsnp23471;hgmd0613_59 NP_000073;ERCC8_HUMAN;NP_000073.1 "A160T,A160V,A205P,A219P,D266G,D338N,D393E,L202S,P383L,S150C,T280K,V263L,W194C,W361C,Y200C" "1,1,1,0,1,0,0,1,0,0,0,0,1,1,0" 1161 8654 hgmd576;sw9278;evn406;dbsnp14857;dbsnp14858 NP_061008;ERMAP_HUMAN;NP_001017922.1;NP_061008.2 "A4V,C259R,G263E,G35S,H26Y,H30R,I79V,R216Q,R22W,R356W,R425K,R73C,R81Q,T192M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114625 7098 hgmd577;sw5391;evn41;dbsnp27432;hgmd0613_569 NP_001017420;ESCO2_HUMAN;NP_001017420.1 "A71S,A80V,D292N,E310V,F255S,H299R,I508V,L274V,L60P,P579T,Q344P,Q359P,R169Q,R365K,S189P,S222W,S276R,T516M,W539G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 157570 5122 hgmd578;sw250;dbsnp14082;hgmd0613_2143 NP_113663;ESPN_HUMAN;NP_113663.2 "A133V,A296V,D299E,D468G,D744N,F368L,H277Y,N379S,P350R,P350S,P357S,R322H,R325H,R422Q,R422W,R760G,R774Q,R806Q,S312L,S385P,S690L,S719R,T429I,T829M,Y323C" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0" 83715 2869 hgmd579;pmd695.3;pmd1046.1;pmd1310.4;sw1600;sws166;spmut638;evn1052;dbsnp25078;dbsnp25079;dbsnp25080;dbsnp25081;hgmd0613_96 NP_000116;ESR1_HUMAN;NP_000116.2;NP_001116214.1;NP_001116213.1;NP_001116212.1 "D313E,G160C,G400V,G77S,K299R,L306P,L44V,P152A,Q502R,R269C,R300H,R548C,S559P,T594M,V364E" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 2099 5189 hgmd57;pmd36.1;sw2838;evn25;dbsnp17578;hgmd0613_11 NP_000017;PUR8_HUMAN;NP_000017.1 "A206S,A2V,A3V,D268N,D422Y,D430N,E228D,E70D,H442R,I72V,K147M,K246E,L311V,L423V,M26L,M299V,P100A,P318L,R141W,R190Q,R194C,R303C,R372H,R374W,R396C,R396H,R426H,R452P,S31N,S395R,S438P,S447P,T450S,V364M,V429A,Y114H" "0,1,1,1,1,1,0,0,0,1,0,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,0,1" 158 6928 hgmd580;sw1353;spmut633;dbsnp5762;hgmd0613_1203 NP_004443;ERR2_HUMAN;NP_004443.3 "A110V,A48V,D222Y,D296N,F456L,L320P,L347P,L483P,P386S,R322Q,R6G,T389M,V342L,V413I" "1,0,0,0,0,1,1,0,0,0,0,1,1,0" 2103 6498 hgmd581;sw2155;evn461;dbsnp6519;hgmd0613_97 NP_000117;ETFA_HUMAN;NP_000117.1 "D174E,G116R,G48E,I276L,T171I,T178R,T266M,V157G" "0,1,0,0,0,0,1,1" 2108 10063 hgmd582;sw3073;evn100;dbsnp11148;hgmd0613_859 NP_001976;ETFB_HUMAN;NP_001976.1 "D128N,G86A,I14L,P93L,R164Q,R174H,R76H,R98C,S151F,T154K,T154M,T154R,V237I,V6A" "1,0,0,0,1,0,0,0,0,0,0,0,0,0" 2109 9781 hgmd583;sw4954;sws635;evn691;dbsnp22239;hgmd0613_1204 NP_004444;ETFD_HUMAN;NP_004444.2 "A6T,G122A,G191D,H94R,I428M,L11P,L179V,N547K,R350Q,T31I,T38A,V142I,V92A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2110 4941 hgmd584;sw1333;dbsnp12066;hgmd0613_1676 NP_055112;ETHE1_HUMAN;NP_055112.2 "I114F,L185R,L55P,R163W,T136A,Y38C" "0,1,1,1,1,1" 23474 11814 hgmd585;sw3766;dbsnp21851;hgmd0613_2369 NP_714928;EVC_HUMAN;NP_714928.1 "A114G,A114V,A197S,A376V,A566P,A566T,A655T,A784T,A850V,D184N,D312N,D359N,D953G,D958N,D95G,E457K,E514K,E553D,F440L,G403S,G957R,H150P,I903V,L257I,L257V,L366M,L366V,L538V,L623P,L856Q,M500I,M546V,P157A,Q74P,Q791H,R190L,R576Q,R609Q,R643H,R647Q,R675Q,R724W,R753Q,R760Q,R788H,S158C,S206N,S307P,T347M,T372M,T449K,T631M,V178I,V510I,V528M,V619I,Y258H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0" 2121 2138 hgmd586;sw6824;sws790;dbsnp21756;hgmd0613_2324 NP_667338;LBN_HUMAN;NP_667338.3 "A305S,A618D,A883V,E643D,E750K,F110L,F302I,G1056R,G488S,I283R,I652V,K231R,L1014V,L18F,L680P,M577T,N255K,Q881H,R272W,R335W,R608H,R687H,R874Q,R950W,R955Q,R955W,S1008L,S1046R,S1161L,S155P,S230G,S966L,T400A,T455R,T462A,T699A,V1182M,V806M" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 132884 1152 hgmd587;sw11684;spmut646;dbsnp12889;dbsnp12890;hgmd0613_1446 NP_006018;EXO1_HUMAN;NP_006018.4;NP_569082.2 "A137S,A423E,A827V,D143E,D249N,D303E,D428N,E109K,E589K,E670G,E89D,F438C,F455S,F483C,G274R,G759E,H354R,H726P,L158V,L410R,N279S,N299S,P640A,P640S,P757L,P770L,R373G,R503T,R557H,R634Q,R723C,R93G,S422N,S446N,S456Y,S610G,T439M,T601A,V27A,V458M,V460L,V76I" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,1,0,0,1,1,0,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0" 9156 2919 hgmd588;sw4968;spmut648;evn814;dbsnp28311;hgmd0613_98 NP_000118;EXT1_HUMAN;NP_000118.2 "A486V,D164H,E38G,E72K,G339D,G42R,H40L,H48Q,H53R,I557V,I625L,I80A,I80M,K479R,L26V,N186S,N316S,P496L,Q27K,R280G,R280S,R340C,R340H,R340L,R340S,S543N,S635T,S77N,S77T,T107A,V293L,V537I,V561I,V66F,Y93H" "1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,0,0,0,0,0,0,1,0,0,0" 2131 3647 hgmd589;evn893;dbsnp2146 NP_000392;NP_000392.3 "A467V,E708K,G6V,I96V,Q18R,S7P,T158A,T217S" "0,0,0,0,0,0,0,0" 2132 3600 hgmd58;sw11909;evn141;dbsnp10663;hgmd0613_1541 NP_006787;AFG32_HUMAN;NP_006787.2 "A265T,A694E,E691K,E700K,F146Y,G671E,G671R,I58V,L772F,M666R,M666T,M666V,N432T,R118Q,R702Q,T201A,T654I,V723M,Y616C" "0,1,1,1,0,1,1,0,0,1,1,1,1,0,1,0,1,0,1" 10939 3229 hgmd590;sw9454;spmut649;evn409;dbsnp27471;dbsnp27472;hgmd0613_410 NP_000494;EYA1_HUMAN;NP_000494.2;NP_742055.1 "D429G,E363K,E363V,G140S,G26D,G426S,H10Y,I195L,L505R,L514P,L583P,M569T,N62D,P20A,P261L,P95S,R361Q,R440Q,R547G,S220G,S242G,S278N,S284T,S487L,S487P,T55A,Y527C" "1,1,1,1,0,1,0,0,1,1,1,1,0,0,0,1,0,1,1,0,1,0,0,1,1,0,1" 2138 4703 hgmd591;pmd86.1;pmd87.1;pmd141.1;pmd142.1;pmd709.1;pmd1425.1;pmd1861.1;pmd2199.1;pmd2200.1;pmd2201.1;pmd2983.1;pmd2988.1;pmd3521.1;pmd3548.1;pmd3897.2;sw1460;dbsnp4895;hgmd0613_411 NP_000495;FA10_HUMAN;NP_000495.1 "A152T,C149Y,C151Y,C390F,C404R,D216N,D322N,E142K,E304K,E350K,E47G,E54G,E54K,E72Q,E91K,G154R,G192R,G289R,G363S,G406S,G420R,G51V,K448N,L7I,P383S,Q30H,R291Q,R327W,R366C,R372P,S374P,T358M,V338M" "0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,1,0,1,1,1" 2159 6866 hgmd592;pmd508.1;sw1610;evn576;dbsnp21693;hgmd0613_99 NP_000119;FA11_HUMAN;NP_000119.1 "A430V,A43T,A63V,C140Y,C255Y,C29S,C339F,C46F,C514F,C56R,D222Y,D34H,D506G,D526E,E315K,E341K,E565K,E597K,F241L,F301L,F460V,G263E,G277D,G32R,G418V,H53Q,I308F,I454K,I481S,I618S,K101R,K270I,L320P,L360P,N323D,N323Y,P538L,P66L,P66S,R228Q,R252T,R326C,S266N,S276C,S313G,S503P,S503T,S575L,S594R,T322I,T331I,T404N,T493I,T51I,T51P,V403M,V509I,W246C,W399R,W401R,W587S,Y151C,Y511H,Y608H" "1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,0,1,0,0,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1" 2160 4712 hgmd593;sw1463;dbsnp23264;hgmd0613_412 NP_000496;FA12_HUMAN;NP_000496.2 "A207P,A340G,A411T,C590S,D461N,F51L,G545D,G589R,L140V,L18F,L414M,P342L,P342Q,Q440K,R142P,R310S,R372P,R417Q,R448C,S308T,T328K,T328R,T579I,V39I,W505C,Y53C,Y605H" "0,0,1,1,1,0,0,1,0,0,1,0,0,1,1,0,1,1,0,0,1,1,0,0,1,1,0" 2161 4965 hgmd594;evn907;dbsnp24257;hgmd0613_100 NP_000120;NP_000120.2 "A603V,A621S,E652Q,F54I,G593S,K532E,K679M,L589Q,M513V,P565L,Q469E,S90N,T49M,T551I,T577M,V40I,V576M,V651I,V666I,V673I,Y205F" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 2162 3762 hgmd595;sw1690;evn864;dbsnp12854;hgmd0613_860 NP_001985;F13B_HUMAN;NP_001985.2 "A181T,C153Y,C450F,D569E,E388V,G410R,H350R,I342T,I411L,L529P,M49V,M634I,R115H,R645S,W321S,Y543S" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 2165 4465 hgmd596;pmd143.2;pmd400.1;pmd401.1;pmd402.1;pmd405.2;pmd476.1;pmd1151.1;pmd1152.1;pmd1153.1;pmd1154.1;pmd1155.1;pmd1276.1;pmd1332.1;pmd1464.1;pmd1522.1;pmd1560.3;pmd1573.1;pmd1775.1;pmd1893.4;pmd2069.1;pmd2070.1;pmd2167.1;pmd2341.1;pmd2656.1;pmd2657.1;pmd2658.1;pmd2659.1;pmd3127.1;pmd3128.1;pmd3135.1;pmd3175.1;pmd3176.1;pmd3625.1;pmd3626.1;pmd3627.1;pmd3628.1;pmd3749.1;pmd3750.1;pmd3912.1;pmd3913.1;pmd3914.1;pmd3915.1;pmd3916.1;pmd4167.2;pmd4168.1;pmd4169.1;pmd4170.1;pmd4171.1;pmd4520.1;pmd4548.1;pmd4549.2;sw1455;evn145;dbsnp1274;hgmd0613_413 NP_000497;THRB_HUMAN;NP_000497.1 "A236T,D151N,E200K,E509A,E72G,G601V,L100F,L210S,M380T,P386T,R198C,R314C,R314H,R425C,R431H,R461W,R543L,S307P,T165M,T322P,T64M" "0,0,1,1,1,1,0,0,1,0,0,1,1,1,1,1,0,0,0,0,0" 2147 4874 hgmd597;sw2085;sws224;dbsnp12816;hgmd0613_101 NP_000121;FA5_HUMAN;NP_000121.2 "A967T,C613R,D107H,D2222G,E1054D,E1530A,G15S,G1975R,H1071Y,H1146Q,H1282R,H1327R,H710R,H865R,I1755M,I387T,K2185R,K858R,K925E,L1086S,L1276I,L1285I,L1397F,L1749V,L522V,L753I,M1156T,M1409R,M1764V,M1811L,M1820I,M2148T,M413T,N741S,N817T,N969S,P1323L,P1404S,P1449L,P1816S,P809S,P918S,Q210K,Q936E,R146Q,R2102C,R2102H,R334G,R334T,R513K,R534Q,R647H,R905G,R980L,S1259Y,S1469P,S781R,T1284I,T1437S,T1685S,T702I,T915S,V36M,V394A,Y1615H,Y1730C" "0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 2153 327 hgmd598;pmd84.1;pmd85.1;pmd663.1;pmd702.1;pmd703.1;pmd704.1;pmd705.1;pmd706.1;pmd707.1;pmd1422.1;pmd1423.1;pmd1424.1;pmd1796.1;pmd1797.1;pmd2066.1;pmd2196.1;pmd2728.1;pmd2729.1;pmd2730.1;pmd2731.1;pmd2732.1;pmd2741.1;pmd2742.1;pmd2973.1;pmd2974.1;pmd2975.1;pmd2976.1;pmd2989.2;pmd2990.1;pmd2991.1;pmd2992.1;pmd2993.1;pmd2994.1;pmd2995.2;pmd2996.1;pmd2997.1;pmd2998.1;pmd3547.1;pmd3690.1;pmd3691.1;pmd3692.1;pmd3693.1;pmd3694.2;pmd3708.2;pmd3709.1;pmd3808.1;pmd3809.2;pmd3898.1;pmd3999.1;pmd4004.1;pmd4032.2;pmd4321.2;pmd4350.1;pmd4351.2;sw1858;dbsnp4897;hgmd0613_102 NP_000122;FA7_HUMAN;NP_000122.1 "A251P,A251T,A266T,A304T,A304V,A352T,A354V,A429T,C121F,C151S,C195R,C238Y,C254R,C254Y,C370F,C389G,C82F,C82R,D183N,D272N,D277N,D302H,D302N,D398E,D403H,E154K,E325K,E445K,E79Q,E85K,F388S,F64L,G138D,G156S,G157C,G157S,G157V,G177R,G216D,G240R,G343S,G345S,G391C,G391S,G402E,G402R,G414C,G425A,G425C,G432D,G435E,H301Q,H408Q,H408R,I198T,I200S,K197E,K401E,L125P,L13P,L181P,L264P,L314V,L321F,L323R,L360P,L73Q,M358I,M358V,M387T,M387V,N117D,P189S,P194L,P194T,P363H,P363R,Q160R,R139K,R139Q,R139W,R173W,R212Q,R283W,R284Q,R307C,R307H,R326Q,R337C,R350C,R364Q,R364W,R375W,R413G,R413Q,R88G,R88P,S120P,S171F,S186F,S250F,S404N,T241N,T298I,T332M,T367S,T384M,T419M,V218M,V295D,V312M,V341F,V422F,W344R,Y128C,Y437F" "1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1" 2155 7275 hgmd599;pmd765.1;pmd1732.1;pmd2134.1;pmd2135.1;pmd2428.1;pmd2743.1;pmd2744.1;pmd2745.1;sw1443;dbsnp29705;hgmd0613_103 NP_000123;FA8_HUMAN;NP_000123.1 "A111T,A111V,A1610S,A1720V,A1798P,A1853T,A1853V,A1939T,A1939V,A2058P,A2070V,A219D,A219T,A2211P,A2220P,A303E,A303P,A315V,A394S,A488G,A663V,A723T,A97P,C172W,C1877R,C1877Y,C1922S,C1922W,C198G,C2040Y,C2193G,C2345S,C2345Y,C267Y,C329F,C329S,C348R,C348S,C348Y,D101G,D101H,D101V,D1260E,D135G,D135Y,D145H,D1587N,D1727V,D1788H,D1865N,D1865Y,D186G,D186N,D186Y,D2093G,D2093Y,D222V,D2286G,D2307A,D478N,D544N,D561G,D561H,D561Y,D579A,D579H,D588G,D588Y,D75E,D75V,D75Y,E1057K,E129V,E132D,E141K,E1701K,E1723K,E1848G,E1894G,E1904D,E1904K,E2018G,E2200D,E223K,E284K,E291G,E291K,E30V,E340K,E409G,E475K,E72K,E739K,E98K,F1804S,F1982I,F2120C,F2120L,F2145C,F214V,F2279C,F2279I,F295L,F312S,F455C,F484C,F677L,F698L,G121S,G130R,G164D,G164V,G1769R,G1779E,G1779R,G1869D,G1869V,G1872E,G193R,G1942A,G1967D,G1979V,G2000A,G2013R,G2022D,G2028R,G2045E,G2045V,G2107S,G2198V,G224W,G2304V,G2344C,G2344D,G2344S,G255V,G263S,G266E,G278R,G280D,G323E,G41C,G439D,G439S,G439V,G466E,G474E,G474R,G474V,G477V,G498R,G513S,G513V,G705V,G710W,G720D,G720S,G89D,G89V,G92A,G92V,H1066Y,H113R,H113Y,H1234L,H1867P,H1867R,H1973L,H1980P,H1980Y,H2101D,H2174D,H275L,H998Q,I1698T,I1782R,I1901F,I2051S,I2056N,I2117F,I2117S,I2204T,I2209N,I2281T,I2336F,I307S,I331V,I405F,I405S,I438F,I494T,I522Y,I567T,I585R,I585T,K108T,K1289Q,K1751Q,K185T,K1864E,K427I,K444R,K529E,K67E,L117F,L117R,L1481P,L1771P,L1775F,L1775V,L1777P,L1808F,L1875P,L1882P,L191F,L1951F,L195P,L1963P,L1994P,L217H,L2185S,L2185W,L2229F,L261P,L26P,L26R,L326P,L327P,L327V,L431F,L431S,L594Q,L644V,L650F,L659P,L69P,L725Q,M110V,M1791T,M1842I,M1945V,M1966I,M1966V,M2007I,M2143V,M2183R,M2183V,M2257V,M339T,M586V,M633I,M699T,M699V,M701I,M721I,M721L,N1460K,N163K,N1941D,N1941S,N1971T,N2038S,N2148S,N2157D,N254I,N299I,N583S,N601D,N601K,N609I,N631K,N631S,N637D,N637I,N637S,N713I,P165S,P1765T,P1780L,P1801A,P1844S,P1873R,P2067L,P2162L,P2172L,P2172Q,P2172R,P2196R,P2224L,P2319L,P2319S,P262L,P470L,P470R,P470T,P496R,P540T,P569R,P83R,P947R,Q1336K,Q1705H,Q2106E,Q2106P,Q2106R,Q2119R,Q2265R,Q2330P,Q584H,Q584K,Q584R,Q664P,R1079K,R1279K,R1708C,R1708H,R1715G,R1740G,R1768H,R1800C,R1800G,R1800H,R1888I,R1960L,R1960Q,R1985Q,R2016P,R2016W,R2109C,R2135P,R2169C,R2169H,R2178C,R2178H,R2178L,R2182C,R2182H,R2182P,R2228G,R2228L,R2228P,R2228Q,R22T,R2323C,R2323G,R2323H,R2323L,R2326G,R2326L,R2326P,R2326Q,R2339T,R301C,R301H,R301L,R355Q,R391C,R391H,R391P,R437P,R437W,R48C,R48K,R490G,R503H,R546W,R550C,R550G,R550H,R560T,R602G,R612C,R717L,R717W,S138R,S1445P,S176P,S1799H,S179P,S1803Y,S1858C,S189L,S1907C,S1907R,S1965I,S1968R,S19R,S202G,S202N,S202R,S2030N,S2082N,S2088F,S2138Y,S2192I,S308L,S392L,S392P,S553P,S554C,S554G,S577F,S596P,S603I,S603R,S635N,T1056I,T1088I,T137A,T137I,T1714S,T1845P,T2004R,T2105N,T2141N,T2173A,T2173I,T2264A,T252I,T294I,T314A,T314I,T454I,T479R,T541S,T686R,T818I,V1012L,V104D,V147D,V159A,V181E,V181M,V1876L,V2035A,V220G,V2242M,V2251A,V2251E,V253F,V285G,V297A,V345A,V345L,V556D,V578A,V64G,V64M,V653A,V653M,V682F,V727F,V983I,V99D,W1908L,W2065R,W2248C,W2248S,W2290L,W2332R,W33G,W401G,W412G,W412R,W532G,W604C,Y133C,Y155H,Y1699C,Y1699F,Y1728C,Y1802C,Y1909C,Y1998C,Y2036C,Y2124C,Y24C,Y25C,Y35C,Y35H,Y365C,Y442C,Y450D,Y450N,Y492C,Y492H,Y605H,Y605S,Y639C,Y683C,Y683N,Y742C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2157 286 hgmd59;sw2468;evn213;dbsnp21908;hgmd0613_12 NP_000018;ASPG_HUMAN;NP_000018.2 "F301S,K4Q,L105I,L10R,L146V,M92I,R265C,T149S,T322I" "0,0,0,0,0,0,0,0,0" 175 9750 hgmd5;sw3953;spmut742;dbsnp7468;dbsnp7469;dbsnp7470;hgmd0613_1957 NP_065737;GABT_HUMAN;NP_065737.2;NP_000654.2;NP_001120920.1 "E192K,I396V,I449V,M214T,N373D,Q56R,R19C,R220K,V37I" "0,0,0,0,0,0,0,1,0" 18 6653 hgmd600;pmd82.1;pmd83.1;pmd136.1;pmd137.1;pmd138.2;pmd139.3;pmd699.1;pmd700.1;pmd701.1;pmd1421.1;pmd1561.4;pmd1614.1;pmd1615.1;pmd1616.1;pmd1617.1;pmd1618.1;pmd1691.1;pmd1715.1;pmd1726.1;pmd1727.1;pmd1728.1;pmd1729.1;pmd1730.1;pmd1801.1;pmd1802.1;pmd1823.1;pmd1858.1;pmd1859.1;pmd1860.1;pmd1886.1;pmd2018.1;pmd2065.1;pmd2126.1;pmd2133.1;pmd2197.1;pmd2198.1;pmd2429.1;pmd2430.1;pmd2431.2;pmd2432.3;pmd2977.1;pmd2978.1;pmd2979.1;pmd2980.1;pmd2981.1;pmd2982.1;pmd3927.1;pmd3928.2;pmd3998.1;pmd4030.1;pmd4031.2;pmd4320.1;pmd4348.1;pmd4349.2;sw1459;dbsnp29561;hgmd0613_104 NP_000124;FA9_HUMAN;NP_000124.1 "A265T,A279T,A366D,A37T,A397P,A436V,C102R,C108S,C119F,C119R,C134Y,C155F,C170F,C178R,C178W,C252S,C252Y,C268W,C28R,C28Y,C382Y,C396F,C407R,C435Y,C97S,D110N,D410H,D93G,E124K,E291V,E323K,E433A,E433K,E53A,E54G,E66V,E67K,E73K,E73V,E79D,F395I,F424V,F55C,F71S,G106D,G106S,G125E,G125R,G125V,G139D,G139S,G160E,G253E,G253R,G351D,G357E,G357R,G363W,G412E,G413R,G432S,G432V,G442E,G442R,G58A,H302R,I112S,I136T,I17N,I316F,I344L,I390F,I443T,I454T,I7F,K362E,K387E,L318R,L321Q,L383F,L383I,L52S,M394K,N113K,N283D,N306S,N48I,P101R,P333H,P333T,P414T,Q167H,Q241H,Q241K,Q96P,R191C,R191H,R226G,R226Q,R226W,R294G,R294Q,R379G,R379Q,R384L,R3H,R404T,R43L,R43Q,R43W,R449Q,R449W,R46T,R75Q,S169C,S411G,S411I,S430T,S49P,T194A,T342K,T342M,T426P,T461P,T84R,V227D,V227F,V228F,V228L,V30I,V419E,W431G,Y115C,Y450C,Y91C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1" 2158 7377 hgmd601;sw6573;dbsnp8115;hgmd0613_2059 NP_077282;FA2H_HUMAN;NP_077282.3 "D35Y,F265C,H146P,P97A,R113Q,R113W,R154C,R235C,V134G,V283I" "1,0,0,0,0,0,1,1,0,0" 79152 9155 hgmd602;sw1756;evn912;dbsnp18328 NP_001434;FABPL_HUMAN;NP_001434.1 "A54T,V42L,V42M,V65L" "0,0,0,0" 2168 14291 hgmd603;pmd723.1;pmd3444.1;pmd3445.1;pmd3446.1;sw2296;evn910;dbsnp6804;hgmd0613_107 NP_000128;FAAA_HUMAN;NP_000128.1 "A134D,A35T,C193R,D233V,E199V,F405H,F62C,G158D,G207D,G337S,G369V,H154Q,I403M,K47E,N16I,N63S,P249T,P261L,P275S,P342L,Q279R,Q64H,R381G,R402H,T120A,T294P,V137I,V166G,V189I,V259I,W234G" "1,1,1,1,0,1,1,1,1,1,1,0,0,0,1,0,1,1,0,1,1,1,1,0,0,1,0,1,0,0,1" 2184 8168 hgmd604;sw9868;evn464;dbsnp26947;hgmd0613_2174 NP_115970;HYCCI_HUMAN;NP_115970.2 "A256P,A355V,A447T,A469V,C472Y,G507R,H381Q,L53P,P375T,R311Q,R383Q,S519P,T120S,T498A,V494I,V8I,Y64C" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 84668 6139 hgmd605;sw583;dbsnp7426;hgmd0613_105 NP_000126;FANCA_HUMAN;NP_000126.2 "A1284T,A1346T,A1435T,A181V,A277G,A412V,A635V,A797V,C625S,D1359Y,D252G,D252N,D598N,D634E,D953E,E1240Q,E570D,E886D,F1262L,F319L,F836Y,G501S,G809D,H1110P,H1417D,H385R,H492R,I311T,I983M,L1082P,L1138V,L1143V,L1249P,L193V,L210R,L244F,L584V,L660P,L817P,L845P,M1360I,M717I,N8K,P1175L,P1324L,P1444A,P201S,P643A,P643R,P739L,Q1128E,Q286R,Q869P,Q993K,R1055L,R1055W,R1117G,R1144W,R1195Q,R1195W,R1400H,R318M,R39K,R435C,R770H,R951Q,R951W,S146C,S176F,S208L,S447L,S674L,T1131A,T126M,T126R,T131S,T1328A,T266A,V1287I,V230I,V6D,V761E,W1302R,Y843D" "0,1,0,1,0,0,0,0,1,1,1,0,1,0,0,0,0,0,1,0,0,0,0,1,1,0,1,0,0,1,0,0,1,0,1,1,0,1,1,1,1,0,1,0,1,0,0,0,0,0,1,0,1,0,1,1,1,1,0,0,1,0,0,1,0,1,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,1,1" 2175 893 hgmd606;sw4012;spmut665;evn199;dbsnp28575;dbsnp28576;hgmd0613_106 NP_000127;FANCC_HUMAN;NP_000127.2;NP_001230672.1 "A181V,A329E,A349G,C10Y,C387R,D195V,E273K,G139E,I312V,I80T,L190F,L496R,L554P,P211R,Q465R,S119T,S26F,S280L,S386P,V38L,V449M,V60I" "0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0" 2176 5715 hgmd607;sw9825;spmut660;dbsnp20587;hgmd0613_2199 NP_149075;FACD2_HUMAN;NP_149075.2 "A1149V,A329G,D604N,D645Y,E827A,F386V,G339S,G685R,G901V,H377R,I104T,I172M,I935L,K33R,K865R,L446V,N545S,P1466T,P593S,P714L,P727L,P806L,Q26H,Q623P,Q640H,Q65H,Q802H,R1236H,R302W,R328Q,S1112G,S126G,T193A,T61M,V1293I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,1,0,0,0" 2177 867 hgmd608;sw10472;dbsnp24988;hgmd0613_2002 NP_068741;FANCE_HUMAN;NP_068741.1 "A488G,A502T,G340R,L531M,M437T,P184Q,P310Q,P310R,P445S,P85S,Q95R,R343Q,R365S,R89L,S204L" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 2178 6037 hgmd609;sw570;sws56;spmut667;evn971;dbsnp28656;hgmd0613_1247 NP_004620;FANCG_HUMAN;NP_004620.1 "A160T,A235V,G294E,G546R,H456L,K19E,K430E,L71P,P330S,P386R,Q110R,Q247K,R214C,R433W,R485Q,R513Q,S378L,S540G,S603F,S7F,T297I" "0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 2189 4875 hgmd60;sw7399;dbsnp23570;hgmd0613_1863 NP_060516;AGGF1_HUMAN;NP_060516.2 "E123K,E133K,G704R,I342V,L471P,L582V,M706L,P698S,P698T,R654W,T180A,V202I,V202L,V498I,Y112C,Y382C" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55109 3924 hgmd610;sw2635;sws304;spmut2187;dbsnp450;hgmd0613_26 NP_000034;TNR6_HUMAN;NP_000034.1 "A16T,A257D,C82R,D260G,D260V,D260Y,E194K,E272G,E272K,G253D,G253S,I184V,I259R,I262S,I310S,K193R,R121W,R250P,R250Q,S320G,T122I,T214N,T241K,T241P,T270I,T270K,T28A,T305I,V249L,Y232C" "0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,0,0,0,1,1,1,1,1,0,1,1" 355 10005 hgmd611;sw3309;spmut2178;dbsnp14993;hgmd0613_468 NP_000630;TNFL6_HUMAN;NP_000630.1 "E142D,H122N,L266V,Y189S" "0,0,0,0" 356 11249 hgmd612;sw11274;evn761;dbsnp5573;hgmd0613_1490 NP_006320;FBLN5_HUMAN;NP_006320.2 "A363T,D364Y,G267S,G412E,I169T,I229V,I365V,I43V,P87S,R351W,R71Q,S122G,S227P,V126M,V60L" "1,0,1,1,1,0,0,0,1,1,1,0,1,0,1" 10516 7620 hgmd613;dbsnp6386;hgmd0613_108 NP_000129;NP_000129.3 "A27T,C1320S,C1513G,C1513R,C166R,C1672F,C2053F,C2151Y,C2170F,C2221R,C2500S,C2535W,C570R,D1113G,D2329E,D26H,D978E,E2610K,E2796K,G1100A,G1863E,G2514R,G2619E,G343R,G363S,G422E,H133Q,I1048V,I724V,L2869S,N1282S,N2208S,N2449S,P1141L,R3P,R62C,R954H,S1077P,V1667I,V2018I" "0,1,0,1,0,1,1,0,1,1,1,1,1,1,0,0,0,1,0,0,0,1,0,1,0,0,0,0,1,0,0,0,0,0,0,1,1,0,0,0" 2200 159 hgmd614;sw2998;sws339;evn535;dbsnp22955;hgmd0613_861 NP_001990;FBN2_HUMAN;NP_001990.2 "A1056S,A2328T,A529T,A52T,A562T,A68V,A803V,C1142F,C1142R,C1156F,C1198Y,C1240R,C1246F,C1253W,C1253Y,C1257W,C1268R,C1384F,C1384Y,C1425R,C1434S,D1115H,D1408N,D1686E,D2785G,E1161K,E1438K,E2764K,E2783Q,E391K,E751A,F1070Y,F2243S,F2266L,G1057D,G1179C,G17V,G479R,G531A,G754S,H1381N,H561R,I1093T,I1868F,I2281F,I2394T,I243T,I2792M,I2875V,K2112E,K895R,L11P,L2581S,M1108L,M1247T,M2311V,N1091S,N2184I,P1015L,P1816L,P2085A,P2428T,P326S,Q1498H,Q2432H,R1021H,R1237H,R1237L,R1586P,R2402H,R270H,R2776K,R347H,R681H,R695H,R73S,S1122P,S139P,S2026F,S2580L,S2771P,S2843G,S429G,S676N,S884T,T1050M,T173A,T173I,T2278M,T353A,T494A,T494S,T594S,V1132I,V20A,V277I,V70A,V965I,W1772G,Y1146C,Y2504F" "0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,0,1,0,0,0,0,1,1,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 2201 159 hgmd615;sw1891;spmut654;evn77;dbsnp28572;dbsnp28573;hgmd0613_414 NP_000498;F16P1_HUMAN;NP_000498.2;NP_001121100.1 "A177D,F194S,F233I,G164S,M289L,N12S,P284R,R218K,R255L,T92M,V133I,V224I,V325A" "1,1,0,1,0,0,1,0,0,0,0,0,0" 2203 9922 hgmd616;sw11842;evn869;dbsnp17270;hgmd0613_1606 NP_036311;FBX7_HUMAN;NP_036311.3 "A357V,D516H,D92H,G500S,H29R,L230S,L415R,M115I,N502S,P476A,R360H,R378G,R481C,S462N,V201M,V294L,V485I" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 25793 6248 hgmd617;sw2598;dbsnp11928 NP_001991;FCAR_HUMAN;NP_001991.1 "C14S,K34T,L164P,P266L,R18S,S269G" "0,0,0,0,0,0" 2204 11153 hgmd618;sw4876;sws622;dbsnp28886 NP_004099;FCN2_HUMAN;NP_004099.2 "C257R,D4E,D4V,G117S,G167S,H113Y,K106R,R103C,R278C,R311Q,S189G,T137M,T161M,V38M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2220 10237 hgmd619;pmd539.2;pmd710.1;pmd3435.1;pmd3436.1;sw2550;spmut859;dbsnp10338;hgmd0613_110 NP_000131;HEMH_HUMAN;NP_000131.2 "C236Y,C406S,C406Y,D383G,E121G,E178K,F260L,F417S,H386P,I186T,I71K,K379N,L182R,M267I,M288K,P192T,P307L,P307Q,P307R,P334L,P62R,Q139L,Q51K,R96Q,S151P,S264L,T283I,T47R,V362G,Y191H" "1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,0,0,1,1,1,0,1,1" 2235 7972 hgmd61;sw3002;evn500;dbsnp13610;dbsnp13611;dbsnp13612;dbsnp13615;hgmd0613_469 NP_000633;GDE_HUMAN;NP_000019.2;NP_000635.2;NP_000633.2;NP_000634.2 "A1207T,A701S,A750S,D75G,E1343K,E1405G,E629K,F604V,G1115R,G1448R,G770R,H587Y,I112V,I1144N,I1144T,I981V,K1363R,K385N,L895I,N1255S,N1434D,N1444S,N797S,P1067S,Q229R,R1253H,R1487G,R285Q,R323Q,R343Q,R387Q,R494H,S440F,S706N,S841F,S878R,S962C,T1195R,T1477S,T513S,T803A,V1484I,Y1068C,Y1464H,Y660S" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 178 790 hgmd620;sw470;evn332;dbsnp11446;hgmd0613_1350 NP_005294;FFAR1_HUMAN;NP_005294.1 "A246V,D175E,F192C,G143V,G180S,R211H,S247N,V126M" "0,0,0,0,1,0,0,0" 2864 10848 hgmd621;dbsnp21695;hgmd0613_1999 NP_068657;NP_068657.1 "I6V,L88H,R510H,T456A,V7I" "0,1,0,0,0" 2243 2792 hgmd622;pmd2253.1;pmd2256.2;sw1571;evn617;dbsnp21674;hgmd0613_1315 NP_005132;FIBB_HUMAN;NP_005132.2 "A98T,D311E,G430D,G45R,I123V,K2E,L383R,M148I,N170H,P100S,P265L,Q159K,R196C,R44C,R478K,R74C,S174L,T228A,V104M" "1,0,1,0,0,0,1,0,0,0,1,0,1,1,0,1,0,0,0" 2244 6818 hgmd623;sw3994;evn558;dbsnp30237;hgmd0613_1207 NP_004454;FGD1_HUMAN;NP_004454.2 "A226T,A44V,A51V,E380A,P251Q,P312L,P315A,R132Q,R443H,R45L,R522H,R610Q,S205I,S208P,T20A,T248P,V231A,V242A" "0,0,0,1,0,1,0,0,1,0,1,1,1,0,0,0,0,0" 2245 2279 hgmd624;sw9167;evn382;dbsnp4509;hgmd0613_2286 NP_640334;FGD4_HUMAN;NP_640334.2 "A703T,D521G,H56R,L110P,M199L,M298R,M298T,N212S,N223T,N48S,P456T,P571T,Q277K,S112P,S154G,T125M,T79I,V717M" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 121512 3465 hgmd625;sw614;evn1132;dbsnp24006;hgmd0613_1208 NP_004456;FGF10_HUMAN;NP_004456.1 "A49T,C106F,C19G,C22W,F57S,H207P,H207R,I156R,P14L,R188I,S32C,V33I" "0,1,0,0,0,0,0,1,0,0,0,0" 2255 12776 hgmd626;sw8640;evn7;dbsnp5202;hgmd0613_1157 NP_004106;FGF14_HUMAN;NP_004106.1 "A181V,F145S,G42C,I125V,N242S,P221A" "0,1,0,0,0,0" 2259 11812 hgmd627;pmd697.1;sw10030;dbsnp4022;hgmd0613_1954 NP_065689;FGF23_HUMAN;NP_065689.1 "D184G,H177N,L146V,P195S,R176Q,R179Q,R179W,S71G,T239M" "0,0,0,0,1,1,1,1,0" 8074 11881 hgmd628;sw2056;evn506;dbsnp2211;hgmd0613_1339 NP_005238;FGF3_HUMAN;NP_005238.1 "K101N,L6P,Q173L,R151K,R171H,S156P,V225I" "0,1,0,0,0,1,0" 2248 12138 hgmd629;evn544;dbsnp950;hgmd0613_2205 NP_149353;NP_149353.1 "P30A,R41W,T133R" "0,0,0" 2253 12025 hgmd62;sw530;dbsnp29226;hgmd0613_1503 NP_006403;PLCB_HUMAN;NP_006403.2 "A154D,A239V,A270V,G136R,I63M,K120R,K214E,K216M,L228P,R114C,R145S,R159C,R77C,R90H,T254I" "0,1,0,1,0,0,0,0,1,0,0,0,0,0,0" 10555 11304 hgmd630;sw2868;evn194;dbsnp5164;hgmd0613_862 NP_002001;FGF9_HUMAN;NP_002001.1 "E128D,I94V,N9S,Q14H,S99N,T131S,V27A,Y125F" "0,0,0,0,1,0,0,0" 2254 12716 hgmd631;pmd131.2;pmd698.2;pmd2470.1;pmd3017.1;pmd3018.1;pmd4342.2;pmd4343.3;pmd4344.4;pmd4345.5;sw2049;sws219;spmut696;evn1147;dbsnp28007;hgmd0613_2046 NP_075598;FGFR1_HUMAN;NP_075598.2 "A167S,A343V,A520T,A74V,C101F,C178S,C277Y,C381R,C6Y,D129A,D224H,E274G,F43L,G237D,G237S,G270D,G402S,G48S,G687R,G703R,G703S,G818R,G97D,H621R,H810R,I300T,I498V,I538V,I693F,L245P,L769V,M719R,M771V,N330I,N506S,N65D,N724K,N77K,P23L,P252R,P252T,P283R,P33S,P366L,P722H,P722S,P745S,P772S,P811S,Q30E,Q72K,Q89R,Q89W,R22S,R250W,R254Q,R622G,R622Q,R78C,R822C,S107L,S24A,S332C,S346C,S685F,V102I,V248M,V273M,V368A,V396I,V607M,V71L,V795I,V92M,W213G,W666R,Y339C,Y374C,Y99C" "1,1,1,0,1,1,1,1,0,1,1,1,0,1,1,1,0,1,1,1,1,0,1,1,0,1,0,1,1,1,0,1,0,1,0,0,1,0,0,1,0,1,0,1,1,1,1,1,0,0,0,0,0,0,1,1,1,1,1,0,0,0,1,1,1,1,0,1,0,0,1,0,1,0,0,1,1,1,1" 2260 2880 hgmd632;pmd130.5;pmd696.1;sw2498;sws275;spmut697;evn1117;dbsnp65;hgmd0613_111 NP_000132;FGFR2_HUMAN;NP_000132.3 "A172F,A314S,A315S,A337P,A344G,A344P,A362S,A628T,A648T,C278F,C278Y,C342F,C342G,C342R,C342W,C342Y,D321A,D66N,E565A,E565G,F276V,G272V,G338E,G338R,G384R,G613R,G663E,I288S,I8S,K292E,K526E,K641R,K659N,M391R,N331I,N549H,N549T,P253R,P263L,Q289P,R190W,R592C,R678G,R6P,S110T,S148G,S252F,S252L,S252W,S267P,S347C,S351C,S354C,S354Y,S372C,S57L,T341P,T454M,V359F,W290G,W290R,Y105C,Y281C,Y301C,Y328C,Y340C,Y340H,Y375C,Y381D" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,0,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1" 2263 2880 hgmd633;pmd132.2;pmd133.1;pmd134.2;pmd135.3;pmd4346.1;sw2535;sws284;spmut698;evn468;dbsnp21962;hgmd0613_112 NP_000133;FGFR3_HUMAN;NP_000133.1 "A35V,A391E,A441T,A717T,A734T,D513N,D646N,E322K,F383C,F384L,G370C,G375C,G44S,G52S,G65R,I538V,I726F,K517R,K650E,K650M,K650Q,K650T,N540S,N540T,P250R,P39S,P401T,P449S,P799L,R116L,R193K,R248C,R621H,S249C,S371C,S736Y,T242M,T338M,T79A,V505I,V57M,Y373C" "0,1,0,0,0,1,0,1,0,0,1,1,0,0,0,1,0,0,1,1,1,1,1,1,1,0,0,0,0,0,0,1,1,1,1,0,0,0,0,0,0,1" 2261 2880 hgmd634;evn1015;dbsnp21696;hgmd0613_415 NP_000500;NP_000500.2 "A108G,F54L,G377C,L110M,S131T,S245F,T283I,Y140H" "1,0,0,0,0,0,0,0" 2266 7520 hgmd635;sw1801;evn1154;dbsnp15894;hgmd0613_113 NP_000134;FUMH_HUMAN;NP_000134.2 "A117P,A20S,A226E,A295T,A308T,D425V,E224G,E488K,F312C,G282V,H180R,K230R,M328R,N107T,P13R,Q185R,R233H" "1,0,0,0,1,1,0,0,1,1,1,1,1,1,0,1,1" 2271 6462 hgmd636;evn97;dbsnp30374;dbsnp30375;dbsnp30377;dbsnp30378;hgmd0613_772 NP_001440;NP_001153172.1;NP_001153176.1;NP_001161291.1;NP_001440.2 "A2V,C249Y,D275N,G137R,K100R,Q268E,R95W" "0,0,0,0,0,0,1" 2273 10320 hgmd637;sw8543;spmut703;evn802;dbsnp24817;hgmd0613_1711 NP_055660;FIG4_HUMAN;NP_055660.1 "D48G,D53Y,I411V,I41T,I902L,I902T,K278N,L179F,M193T,M364L,M694V,M798V,Q884R,R244C,R388G,R459Q,R476H,S240N,S896A,T270A,T3S,V654A,Y58C,Y647C,Y667H" "0,1,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 9896 2573 hgmd638;evn498;dbsnp26370;hgmd0613_1085 NP_003593;NP_003593.3 "F72L,G13R,H287N,R183C,R24W,R278Q" "0,0,0,1,0,0" 8468 10211 hgmd639;sw10426;evn871;dbsnp12063;dbsnp12064;hgmd0613_2058 NP_077277;FKRP_HUMAN;NP_001034974.1;NP_077277.1 "A114G,A150G,A263T,A455D,A45V,C318Y,D360N,D401N,E177Q,L276I,N463D,P217T,P315T,P316R,P316S,P358L,P448L,P462S,R134W,R143S,R312C,R339H,R339L,R436W,R54W,S221R,T293I,V160F,V300A,V300M,V393I,V405L,V79M,Y182C,Y307N,Y309C,Y328S,Y465S" "1,0,0,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1" 79147 6735 hgmd63;sw276;evn86;hgmd0613_1092 NP_003650;ADAS_HUMAN;NP_003650.1 "E471K,L13S,L469P,R182Q,R419H,T309I,T568M" "1,0,1,1,1,1,1" 8540 4498 hgmd640;sw932;sws103;evn964;dbsnp29103;dbsnp29104;hgmd0613_628 NP_001073270;FKTN_HUMAN;NP_001073270.1;NP_006722.2 "A112T,A114T,A170E,C250G,F176S,G387R,H188N,N446D,P441H,Q358P,R179T,R203Q,R246G,R307Q,R56C,R56H,S99T,T16A,T223I,T433M,V367I,Y371C" "0,1,1,1,1,0,0,0,0,1,1,0,1,1,0,0,0,0,0,0,0,1" 2218 7378 hgmd641;sw7856;sws897;evn717;dbsnp9737;hgmd0613_2310 NP_659434;FLCN_HUMAN;NP_659434.2 "A238V,A90S,D33A,E132K,H429Y,K508R,N55S,P326L,P472A,Q385H,R194W,R239C,R320Q,R362C,R379G,R401C,S108I,S316G,S38I" "1,0,0,1,1,1,0,0,0,0,0,1,1,1,0,0,1,0,0" 201163 5421 hgmd642;sw996;sws110;spmut706;evn807;dbsnp20162;hgmd0613_775 NP_001448;FLNB_HUMAN;NP_001448.2 "A1151V,A1218T,A1286G,A1286V,A1341G,A1577V,A1660T,A173V,A832T,D1157N,D1499N,D1598N,D1663N,D1738N,D1929N,D505G,D623V,E1051K,E1179K,E1211K,E1950G,E1950V,E227K,E2395K,F1411L,F161C,F2347L,F539L,G1120E,G1262A,G1262R,G1586R,G168S,G1691S,G1834R,G361S,G363E,G488S,G642D,G687R,G751R,G925C,I2228T,I2264M,I2319T,I430M,I430V,I92V,K1057Q,K193Q,K2006R,K2058R,L1054F,L1431R,L171R,L234V,M202V,M2293L,M270V,M491T,M491V,N1001S,N1347S,N597D,N644D,N698S,P1296S,P1603L,P520L,Q150K,Q304R,R1256W,R1436Q,R2016Q,R36H,R649Q,R691P,R818Q,S1041T,S188P,S235P,S346N,S91N,T1031A,T1353S,T1783M,T2392A,T401S,T473A,T490A,T640M,T669A,T709S,T770S,V1018M,V1055M,V1471M,V1592D,V2367I,V2454I,V2463M,V367A,V443I,V882M,V966I,Y121F" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,1,1,1,1,1,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 2317 186 hgmd643;sw2345;sws259;spmut2348;evn1119;dbsnp5213;hgmd0613_863 NP_002010;VGFR1_HUMAN;NP_002010.2 "C483Y,D283N,E144K,E946K,E982A,G132D,I128L,I42V,I511V,I548M,I623V,K304E,K60T,L19I,M518T,M624L,M938V,P1201L,P1233L,Q629E,R281Q,R386H,R501I,R501K,R781Q,S752L,S786A,T453I,T594I,V980A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2321 1087 hgmd644;pmd439.2;pmd443.2;pmd1246.1;pmd1247.2;dbsnp23034;hgmd0613_864 NP_002011;VGFR3_HUMAN;NP_002011.2 "A1022G,A153T,A491V,D1049N,E350V,E58K,G1154R,G1296S,G71R,G857R,H102R,H1035R,H868Y,H890Q,I1053F,L1044P,L687V,N149D,N527S,P1008L,P1114L,Q1174H,Q441H,R1041P,R1146H,R150K,R745C,S171L,S26A,S637R,T494A,V511A" "0,0,0,0,0,0,0,0,0,1,0,1,0,0,1,1,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0" 2324 1043 hgmd645;sw11641;evn1105;dbsnp5676;hgmd0613_1846 NP_060261;FLVC2_HUMAN;NP_060261.2 "A122T,A326V,A481T,A482V,G299A,G412R,L224V,L398V,N513S,P279S,P280R,R243W,R84H,T352R,T430M,T430R,V16A,V35I" "0,1,0,0,0,1,0,1,0,0,1,0,1,1,1,1,0,0" 55640 5771 hgmd646;sw4054;evn154;dbsnp14750 NP_002012;FMO1_HUMAN;NP_002012.1 "E126D,F235L,F327L,G330E,H360Y,I251T,I322V,K373R,M378L,P470T,R223Q,R474H,S119F,S227L,S227T,T108S,T455M,T462I,V463I,Y353C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2326 5716 hgmd647;sw9455;evn148;dbsnp13522 NP_001451;FMO2_HUMAN;NP_001451.1 "E314G,E402K,E438K,E442D,F166S,F69Y,F81S,G228S,I417T,M163I,N431T,P282S,R174H,R244H,R244L,R249Q,R262W,R291H,V139I,V210D,V59L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2327 5716 hgmd648;sw2873;evn503;dbsnp13450;dbsnp13451;hgmd0613_1550 NP_008825;FMO3_HUMAN;NP_001002294.1;NP_008825.4 "A52T,D198E,E24D,E32K,G180V,H116R,K416N,M402V,M434I,N61K,N61S,P153L,R186H,R205C,R387L,R492W,S493L,V277A,V502G" "1,0,0,1,0,0,0,0,1,0,1,1,0,0,1,1,0,0,0" 2328 5716 hgmd649;sw2872;evn149;dbsnp13214 NP_002013;FMO4_HUMAN;NP_002013.1 "A366P,C111H,C20R,C21R,E121K,F536L,G369R,G372S,I113V,K421Q,L221H,L515V,L544R,M474V,R250C,R472H,R492G,S534P,T308S,W88R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2329 5716 hgmd64;pmd3982.1;pmd3983.1;sw1478;evn860;dbsnp12810;hgmd0613_13 NP_000020;ANGT_HUMAN;NP_000020.1 "A186V,A201T,A397S,A397T,A434V,C51R,D156G,E296K,E98K,G114C,G264S,I345S,L244R,L392M,L43F,L84P,M268I,M268T,P222L,P222Q,P335S,P449S,P481L,P71L,R237C,R375Q,R4P,S339N,S415G,S442F,T137M,T207M,T242I,T376A,V139L,V385A,V421M,V44I,Y281C" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,1" 183 6910 hgmd650;sw3378;evn1041;dbsnp14825 NP_001452;FMO5_HUMAN;NP_001452.2 "D493N,F82L,G229R,H173Y,I368L,I433V,K166E,K418R,L285V,N47D,P400A,Q391R,R319G,R494C,R506S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2330 5716 hgmd651;pmd721.1;pmd3340.2;sw4206;spmut709;evn384;dbsnp29573;hgmd0613_865 NP_002015;FMR1_HUMAN;NP_002015.1 "A145S,D357E,I304N,K273R,P517S,R138Q,R546H,S603N" "0,0,1,0,0,0,0,0" 2332 4768 hgmd652;dbsnp18223;hgmd0613_2507 NP_997647;NP_997647.1 "A1620E,A454D,G2195V,G352S,G357E,G966R,H2116Q,I1407V,I182L,I182V,I1921F,I2212V,K1050R,N251Y,P1421R,P1985H,P2016L,P296L,Q15L,R1021Q,R1482C,R1496W,R2275Q,R2425H,R534H,R592H,S1122R,S2432T,S41A,T1666N,T1946I,T19I,T68S,T710I,V1044M,V1064I,V14L,V2281M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2335 250 hgmd653;evn565;dbsnp16736;hgmd0613_1995 NP_068556;NP_068556.2 "A284S,A441T,A446G,A77T,G98A,L328M,M142T,M430I,P425T,S278G,S301P" "0,0,0,0,0,0,0,0,0,0,0" 3170 7163 hgmd654;sw4367;spmut715;dbsnp24514;hgmd0613_773 NP_001444;FOXC1_HUMAN;NP_001444.2 "A381G,D182N,D426N,F112S,G149D,G165R,I126M,I87M,I91S,I91T,L130F,L86F,M161K,M161V,P79L,P79R,P79T,R127H,R169P,S131L,S82T,Y115S" "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2296 5788 hgmd655;sw9542;evn817;dbsnp8195;hgmd0613_1341 NP_005242;FOXC2_HUMAN;NP_005242.1 "C498R,D431E,P486S,Q444R,S125L,S191F,T197A,T385A,Y488C" "0,0,0,1,1,0,0,0,0" 2303 6627 hgmd656;sw4368;dbsnp28725;hgmd0613_2502 NP_997188;FOXD4_HUMAN;NP_997188.2 "A41E,A42G,D136G,E7D,E85G,G250A,G250R,I134F,I152V,P205L,P231R,R142C,R167C,R367Q,S420L,S430G,S92T,V163L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2298 7779 hgmd657;sw329;dbsnp29096;hgmd0613_1209 NP_004464;FOXE1_HUMAN;NP_004464.2 "A298P,A65V,P190R,R102C,S57N" "0,1,0,1,1" 2304 9065 hgmd658;sw4496;dbsnp14693;hgmd0613_1607 NP_036318;FOXE3_HUMAN;NP_036318.1 "G196A,G49A,L287M,M82V,R90L,S300G" "0,1,0,1,1,0" 2301 10407 hgmd659;sw3701;spmut716;dbsnp6336;hgmd0613_1340 NP_005240;FOXG1_HUMAN;NP_005240.3 "F215L,G168A,P109L,R244C" "1,0,0,1" 2290 6855 hgmd65;pmd3372.2;pmd3373.1;pmd4290.1;sw2836;evn579;dbsnp20932;dbsnp20933 NP_114038;AGTR1_HUMAN;NP_000676.1;NP_033611.1 "A114T,A163T,A244S,C289W,F356V,I103T,L48V,R137H,R311K,T282M,T336P,V52G,V65I" "0,0,0,0,0,0,0,0,0,1,0,0,0" 185 9437 hgmd660;sw1040;spmut717;evn522;dbsnp28133;hgmd0613_1131 NP_003914;FOXH1_HUMAN;NP_003914.1 "D328E,D350G,G177R,Q302R,S113T,S16L,T125S,V112M,W311C" "1,1,0,0,1,0,1,0,0" 8928 9289 hgmd661;sw4369;dbsnp24036;hgmd0613_1608 NP_036320;FOXI1_HUMAN;NP_036320.2 "D106E,G259D,N362S,P243S,P264Q,P340A,P44L,S224F,S363I,T226I" "0,0,0,0,0,0,0,0,0,0" 2299 9014 hgmd662;sw3778;spmut719;evn698;dbsnp21032;hgmd0613_2044 NP_075555;FOXL2_HUMAN;NP_075555.1 "A179G,A334P,A66V,C134W,E69K,F90S,G182A,G187D,G29A,H104R,I102T,I63T,I80T,I84N,I84S,K193R,L106F,L106P,L108P,M65V,N105S,N109K,P285S,R103C,S101R,S217C,S217F,S58L,W98G,W98R,Y215C,Y258N" "0,0,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1" 668 9062 hgmd663;sw595;evn709;dbsnp27135;hgmd0613_1692 NP_055306;FOXP2_HUMAN;NP_055306.1 "A249P,A6V,D80E,I652M,M487H,M487V,N303T,R553H,S298A,S325N,S36P,S488F" "0,0,0,0,0,0,0,1,0,0,0,0" 93986 3702 hgmd664;sw9941;dbsnp30230;hgmd0613_1655 NP_054728;FOXP3_HUMAN;NP_054728.2 "A384T,E209K,F371C,I363V,R397W,R417W,S184L" "1,0,1,1,1,0,0" 50943 7920 hgmd665;sw5437;dbsnp28545;hgmd0613_2308 NP_659403;FREM1_HUMAN;NP_659403.4 "A1212S,D1273E,E1207Q,E1491K,E1500V,G1440S,G1838S,G465A,I1981N,I499V,K1625N,L1324R,L1381R,L863V,M702V,N1576I,N527D,Q1364L,Q2143P,R1292C,R1489Q,R498Q,R649W,S1202R,S1831P,S803Y,T1415S,T1474I,T1791I,V1502M,V1655M,V2091I,V2174G,V439L,V919E" "0,0,0,0,1,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,1,0,0,0" 158326 346 hgmd666;sw5579;evn564;dbsnp4991;hgmd0613_2505 NP_997244;FREM2_HUMAN;NP_997244.3 "A1659T,A1664V,A199S,A2091V,A2534P,A2962V,A3146T,C914G,D2456N,E1687A,E1813K,E1972K,E993G,F1070S,G102A,G1806D,G311R,G59D,G811E,H1089L,H3089R,H945N,I1045S,I1243K,I1577T,K1785T,K2973R,L1327I,L1960P,L449V,L868V,M1039K,M2351T,M2933T,M711I,N1048S,N1240S,N1323S,N2067K,N3024S,N967S,N997S,P1180R,P1221S,P128L,P1576A,P1882S,P1887L,Q2318H,Q2824H,Q396H,R1344H,R1520W,R1639K,R1668H,R1810G,R1840W,R2066C,R2066G,R2477W,R2512H,R2625S,R3056K,R688G,R710C,R722K,S1083G,S123N,S1546G,S1654R,S1695F,S2123P,S3070N,S527L,S745P,T1440K,T1634M,T2153S,T2326I,T2622N,T3013M,T3119M,T607M,T641A,T867I,V1088M,V1780I,V1893I,V2030L,V2079I,V2330A,V2968I,V3038A,V770M,V813M,V857I,V996D,Y1345C,Y1761N,Y2137F" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341640 127 hgmd667;sw6471;dbsnp29978;hgmd0613_2455 NP_919253;FRMD7_HUMAN;NP_919253.1 "A226T,A266P,C271F,C271Y,G24E,G24R,G24W,G296R,H275P,H520D,L142R,L231V,M78V,N221D,R146W,R229C,R229G,R261G,R261Q,R300C,R468H,S281L,S340L,W225G,Y301C" "1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,0,0,0,1,1,1" 90167 3925 hgmd668;pmd3430.2;pmd3431.1;sw1504;dbsnp1275;dbsnp1276;hgmd0613_416 NP_000501;FSHB_HUMAN;NP_001018090.1;NP_000501.1 "C69G,R115Q,S109R,S20I,T44S" "1,0,0,0,0" 2488 14253 hgmd669;dbsnp17976;hgmd0613_115 NP_000136;NP_000136.2 "D89Y,G70A,L8F,Q123E,R162K,S524R,T665A,V166L,V341A" "0,0,0,0,0,0,0,0,0" 2492 4077 hgmd66;pmd4288.1;pmd4289.2;sw3441;evn599;dbsnp29558;hgmd0613_472 NP_000677;AGTR2_HUMAN;NP_000677.2 "C268W,C71S,G21V,I337V,K256R,N29S,P165L,R248K,R324Q,S26P,T241M,W100R,Y231H" "0,0,1,1,0,0,0,0,1,0,0,0,0" 186 9335 hgmd670;sw1400;evn957;dbsnp17118;dbsnp17119;hgmd0613_1528 NP_006648;FTCD_HUMAN;NP_006648.1;NP_996848.1 "A418T,A438E,A438V,A464V,D157V,D39G,G144R,H515Y,K151M,L226P,N290S,R135C,R215C,R215H,R299P,R446Q,T407K,T417A,V101M" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0" 10841 5966 hgmd671;pmd3434.1;sw1595;evn989;dbsnp11223;hgmd0613_116 NP_000137;FRIL_HUMAN;NP_000137.2 "A96T,E57K,E64Q,G146S,H174Y,L111F,L45P,R121H,S49I" "1,0,0,0,0,0,0,0,0" 2512 12082 hgmd672;sw9968;spmut730;evn621;dbsnp7989;hgmd0613_633 NP_001073901;FTO_HUMAN;NP_001073901.1 "A134T,A163T,A405V,D348V,G182A,M207V,M400V,N143S,Q314K,R316Q,R423G,R80W,S256N,V201I,V428M" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 79068 6555 hgmd673;sw1625;dbsnp12809;hgmd0613_117 NP_000138;FUCO_HUMAN;NP_000138.2 "C269S,D105N,G65D,L134F,L410R,P146L,Q286R,R2W,R376Q,S68L,T383I,V260I,W145R,W188C" "0,0,1,0,1,0,0,0,0,1,0,0,0,0" 2517 7265 hgmd674;sw3013;sws343;dbsnp8384;hgmd0613_1285 NP_004951;FUS_HUMAN;NP_004951.1 "A16V,G515C,H517Q,M254V,N63S,P525L,R244C,R514G,R514S,R518K,R521C,R521G,R521H,R522G,R524S,R524T" "0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1" 2521 6187 hgmd675;sw2406;evn1136;dbsnp11277;hgmd0613_118 NP_000139;FUT1_HUMAN;NP_000139.1 "A12V,A315V,A66T,D148Y,E348K,H28Y,L164H,L242R,L3P,L77V,P341L,R4P,R7P,V259E,W171C,W349C,Y154C,Y154H,Y241H" "0,1,0,1,1,0,1,1,0,0,0,0,0,1,1,1,1,1,1" 2523 9290 hgmd676;pmd3441.1;pmd4572.1;pmd4573.2;sw2473;dbsnp10901;dbsnp10902;dbsnp10903;dbsnp10904 NP_000140;FUT3_HUMAN;NP_001091110.1;NP_001091109.1;NP_001091108.1;NP_000140.1 "A19T,A357P,D336A,G5S,P183L,Q144R,R151G,R304G,R321H,R327Q,R60H,R80C,R80H,S187L,T325M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2525 9107 hgmd677;pmd520.2;pmd3443.2;sw3564;dbsnp10886;dbsnp10887;hgmd0613_119 NP_000141;FUT6_HUMAN;NP_001035791.1;NP_000141.1 "A355E,A58T,G176V,G222R,H180Y,L244V,N184S,P285L,Q230K,R122C,R126W,R223C,R326Q,R35H,T324M" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 2528 9107 hgmd678;pmd4207.2;evn732;dbsnp29252;hgmd0613_1210 NP_004470;FUT7_HUMAN;NP_004470.1 "A270T,P217S,P328L,R234H,R243C,R302C,R70C,R82Q,V266A,V266M" "0,0,0,0,0,0,0,0,0,0" 2529 9845 hgmd679;sw4998;dbsnp28495;hgmd0613_114 NP_000135;FRDA_HUMAN;NP_000135.2 "D122Y,D209G,G130V,I154F,L106S,L182F,L198R,M76V,R165C,S202C,W155R" "1,0,1,1,1,1,1,0,1,0,1" 2395 12734 hgmd67;pmd37.1;pmd38.2;pmd2247.1;pmd2248.1;sw2485;spmut2024;dbsnp18741;hgmd0613_14 NP_000021;SPYA_HUMAN;NP_000021.1 "A112D,A280V,A295T,C173Y,C253R,D183N,D201E,D243H,F152I,G116R,G156R,G161R,G170R,G190R,G350D,G41R,G41V,G82E,G82R,I244T,I279M,I279T,L153V,L298P,M195R,N22S,R233C,R233H,R233L,R289C,S158L,S187F,S205P,S218L,S287T,T9N,V266I,V326I,V336D,W108R" "1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,1" 189 8743 hgmd680;sw3649;dbsnp2636;hgmd0613_804 NP_001671;ATNG_HUMAN;NP_001671.2 "F19L,G10S,G41R,R59K,V26I" "0,0,1,0,0" 486 14031 hgmd681;sw11570;sws1299;evn295;dbsnp2835;hgmd0613_1609 NP_036325;FZD4_HUMAN;NP_036325.2 "A370G,C181R,C204R,C204Y,E40Q,G22R,G36D,G488D,G525R,H69Y,I114T,I256V,K203N,L30V,M105T,M105V,M157V,M223K,M342V,P168S,P177A,Q26K,R417Q,S497F,S533N,T445P,W335C,Y467F" "1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,0,1,1,0,1,1,0" 8322 6028 hgmd683;sw9709;spmut737;evn442;dbsnp9657;hgmd0613_2264 NP_612396;G6PC3_HUMAN;NP_612396.1 "A56T,G260R,G262R,I29V,I63L,L185P,M116K,M116V,M192V,Q272R,R138H,R189Q,R253H,R274C,T135P,T202I,T216I,V243M,V57M" "0,1,1,0,0,1,1,1,0,0,0,1,1,0,0,0,0,0,0" 92579 9752 hgmd684;pmd3026.1;pmd3027.1;pmd4047.1;sw2052;evn104;dbsnp29626;hgmd0613_607 NP_001035810;G6PD_HUMAN;NP_001035810.1 "A335T,A44G,C385R,D114E,D176G,D181V,D194E,D282H,D350H,D58N,E156K,E274K,E317K,E398K,E416K,F216L,G131V,G163D,G163S,G410C,G410D,G447R,G488V,H32R,I483L,I48T,I52V,K386E,L128P,L323P,L342F,L440F,L75P,M212V,N126D,N165D,N301S,P353S,P396L,Q449H,R166H,R182W,R198C,R198P,R227L,R227Q,R257G,R285H,R330H,R387C,R387H,R393H,R439P,R454C,R454H,R459L,R459P,R463H,R81C,R81H,S106C,S188F,S278F,T279S,T490M,T91N,V12L,V213L,V291M,V394L,V68M,Y322H,Y70H" "1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1" 2539 5922 hgmd685;sw1985;spmut1147;dbsnp8733;dbsnp8734;dbsnp8735;hgmd0613_121 NP_000143;LYAG_HUMAN;NP_000143.2;NP_001073271.1;NP_001073272.1 "A237V,A445P,A719E,A719S,A880D,A93T,C103G,C374R,C647W,D404N,D489N,D645E,D645H,D645N,D91N,E262K,E471K,E521K,E579K,E689K,G219R,G293R,G309R,G377R,G478R,G576A,G576S,G607D,G615R,G638W,G643R,G648S,G759R,H199R,H308L,H308P,H612Q,L208P,L226V,L299R,L312R,L355P,L405P,L552P,L775M,L901Q,M318T,M408V,M519T,M519V,P285R,P324L,P361L,P451R,P457L,P522A,P545L,P768R,Q401R,R11Q,R223H,R224W,R281W,R375L,R422Q,R437C,R585M,R600C,R600H,R660H,R672Q,R672T,R672W,R702C,R725W,S306L,S448T,S529V,S566P,S599Y,S619R,T927I,V230M,V780I,V816I,V949D,W330G,W402R,W481R,W746C,Y191C,Y292C,Y340C,Y455F,Y575S,Y766C" "1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,0,0,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,0,1,0,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,0,0,0,1,1,1,1,0,1,1,0,1,1,0" 2548 2326 hgmd686;sw2197;evn861;dbsnp24028;dbsnp24029;dbsnp24030;dbsnp24031;dbsnp24032;dbsnp24033;dbsnp24034;hgmd0613_502 NP_000797;GBRA1_HUMAN;NP_000797.2;NP_001121116.1;NP_001121115.1;NP_001121117.1;NP_001121118.1;NP_001121120.1;NP_001121119.1 "A322D,C10S,C10Y,D9E,I15T,P29Q,P29S,P29T,P409S,P5L,R24K,R2K,T289S" "1,0,0,0,0,0,0,0,0,0,0,0,0" 2554 5782 hgmd687;pmd725.2;pmd726.2;pmd3457.1;sw2366;evn987;dbsnp23937;hgmd0613_503 NP_000807;GBRG2_HUMAN;NP_000807.2 "F37L,G10E,G10R,H357R,I6T,K328M,L30M,L31V,N79S,P4T,Q21R,R177G,R82Q,S11C,S12P,S15W,S263C,S263T,S8N,V13E,V25T,Y14C" "0,0,0,0,0,1,0,0,1,0,0,1,1,0,0,0,0,0,0,0,0,0" 2566 6399 hgmd688;sw9436;evn251;dbsnp18097;hgmd0613_504 NP_000808;DCE1_HUMAN;NP_000808.2 "A563V,A86G,F565L,I228L,N478S,N505D,P162A,Q289H,Q530E,R532Q,R70K,R89W,S12C,V237I,V418F,V418I,V474G,V513I,Y127F" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 2571 5202 hgmd689;evn110;dbsnp5448;hgmd0613_122 NP_000144;NP_000144.2 "D248N,I562T,R184C,T641A,V249A,Y370F,Y78L" "0,0,0,0,0,0,0" 2581 4213 hgmd68;pmd3041.1;pmd3731.1;sw2582;evn902;dbsnp16584;hgmd0613_473 NP_000678;SAHH_HUMAN;NP_000678.1 "A89V,C421R,D86G,D86N,E313K,G123R,I24V,I279V,I306M,I92V,N270T,P6L,P6R,R285W,R327W,R334C,R34C,R38W,R49C,V404M,Y143C" "1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1" 191 5017 hgmd690;sw4666;spmut743;evn98;dbsnp13930;dbsnp13931;dbsnp13932;hgmd0613_333 NP_000394;GALE_HUMAN;NP_000394.2;NP_001121093.1;NP_001008217.1 "A180V,A25V,D103G,D69E,E165K,G302D,G319E,G90E,I204T,K257R,L183P,L313M,N34S,R169P,R169Q,R169W,R239W,R335H,R40C,R58C,V94M,Y141H,Y80H" "0,1,1,1,1,1,1,1,0,1,1,1,1,0,0,1,1,1,1,0,1,0,0" 2582 9696 hgmd691;sw3504;evn37;dbsnp9951;hgmd0613_123 NP_000145;GALK1_HUMAN;NP_000145.1 "A198V,A249V,A384P,C391R,E27D,G274D,G346S,G349S,G36R,H44Y,I184M,P28T,Q96L,R239Q,R68C,T288M,V32M,V338A" "1,0,1,0,0,0,1,1,1,1,0,1,0,1,1,1,1,0" 2584 8746 hgmd692;pmd254.1;pmd2310.1;sw2933;sws327;dbsnp7584;hgmd0613_418 NP_000503;GALNS_HUMAN;NP_000503.1 "A107T,A203V,A231G,A257T,A291D,A291T,A351V,A392V,A393S,A459V,C79Y,D171A,D233N,D344E,D344N,D388N,D60N,E185G,E260D,E450V,F156C,F156S,F167V,F284V,F346L,F452I,F69V,F97V,G116S,G139S,G155E,G155R,G168R,G23R,G247D,G290S,G301C,G309R,G340D,G42E,G47R,G96C,G96V,H150Y,H166Q,H398D,H401Y,I113F,I178V,I382V,I416T,K310N,L15M,L307P,L345P,L352P,L369P,L36P,L395P,L395V,L67M,M318R,M343R,M391V,M41L,M494V,N164T,N172S,N204K,N407H,N487S,P125L,P151L,P151S,P179H,P179L,P179S,P357L,P484S,P77R,Q111R,Q334R,R222Q,R253W,R259Q,R361G,R376Q,R380S,R380T,R386C,R386H,R61W,R90W,R94C,R94G,R94L,S120L,S135R,S162F,S287L,S295F,S341R,S470P,S53F,S80L,T200M,T312S,V138A,V138I,V239F,V480F,V488M,W141C,W141R,W230G,W325C,W409S,Y229H" "1,1,0,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,0,1,0,1,1,1,1,1,1,0" 2588 6249 hgmd693;sw7162;sws828;dbsnp28531;hgmd0613_2079 NP_078918;GLT12_HUMAN;NP_078918.3 "D131G,D261N,D303N,E119V,G272R,G3E,G46R,K367R,L135F,P434L,R297W,R373H,R382H,R552K,T491M" "0,0,1,0,0,0,0,0,0,0,1,1,1,0,1" 79695 5391 hgmd694;evn140;dbsnp18751;hgmd0613_1212 NP_004473;NP_004473.2 "A573G,A92V,D229N,E136G,I12F,I27V,I450V,I588M,I628V,K19R,L602F,L629F,L98W,M52L,N619D,T200M,V267F,V301I,V569I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2591 4758 hgmd695;pmd739.1;pmd2262.1;pmd2585.1;pmd3468.1;sw1793;evn975;dbsnp28579;hgmd0613_124 NP_000146;GALT_HUMAN;NP_000146.2 "A199T,A320T,A330V,A81T,C130Y,D113N,D28Y,D98N,E203K,E291K,E308K,F117S,F171S,F194L,F294Y,G179D,G55C,H114L,H132Y,H184Q,H319Q,H367R,I198M,I198T,I32N,K127E,K229N,K285N,K334R,L139P,L195P,L217P,L226P,L282V,L289R,L62M,L74P,M129T,M142K,M142T,M142V,M336L,N97S,P183T,P324S,P325L,Q118H,Q188R,Q212H,Q252H,Q317H,Q317R,Q344K,Q38P,R11G,R123G,R123Q,R148G,R148Q,R148W,R201H,R204P,R231H,R258C,R259W,R262P,R272G,R328C,R328H,R333G,R333Q,R333W,R51L,R51Q,R67C,S135L,S135W,S143L,S192N,S307T,S329F,S45L,T138M,T350A,V125A,V150L,V151A,V44L,V44M,W154G,W167R,W249R,Y209C,Y209S,Y251C,Y251S,Y323D,Y323H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2592 8993 hgmd696;sw4665;dbsnp11082;hgmd0613_125 NP_000147;GAMT_HUMAN;NP_000147.1 "A224T,A54P,C169Y,D219N,H51P,L197P,M50L,R105Q,T209M,V165F,V194A,W20S" "0,1,1,0,1,1,1,0,0,0,0,1" 2593 11513 hgmd697;sw10171;evn95;dbsnp8280;hgmd0613_2012 NP_071324;GAN_HUMAN;NP_071324.1 "A363P,A482I,A482V,A51P,C393R,C570Y,E486K,G368R,G474R,I209L,I423T,I86F,K246R,L309R,L560F,N191S,P315L,P315R,P443T,P562A,R138H,R15S,R269Q,R545C,R545H,S249N,S485N,S52G,S79L,T119S,T353S,V195F,V82F,Y504C,Y89C" "0,0,0,1,0,1,1,1,1,0,1,1,0,1,0,0,1,0,0,1,1,1,1,1,1,0,0,1,1,0,0,1,1,0,1" 8139 5168 hgmd698;sw3141;spmut2084;evn798;dbsnp26042;hgmd0613_867 NP_002038;SYG_HUMAN;NP_002038.2 "E125G,G294R,G580R,H641Y,I556V,L183P,P42A,P4L,Q707R,R27W,R388Q,S35P,S635L,T268I" "1,1,1,0,0,1,0,0,0,0,0,0,1,0" 2617 3703 hgmd699;sw2250;spmut750;dbsnp30482;hgmd0613_869 NP_002040;GATA1_HUMAN;NP_002040.1 "A53D,A55T,A66T,D218G,D218Y,G208S,G344R,G368R,R216Q,V205M" "0,0,0,1,1,1,0,0,1,1" 2623 8312 hgmd69;sw7343;dbsnp25040;dbsnp25042;dbsnp25043;hgmd0613_1835 NP_060121;AHI1_HUMAN;NP_001128303.1;NP_001128302.1;NP_060121.3 "A173T,E1086G,I49N,P1140S,Q1018P,Q193E,R386W,R548H,R723Q,R830W,S1123F,S761L,T60A,T856S,V443D,Y933C" "0,1,0,0,0,0,0,0,1,0,0,0,0,0,1,0" 54806 1428 hgmd6;sw1317;sws140;evn68;dbsnp28605;hgmd0613_1377 NP_005493;ABCA1_HUMAN;NP_005493.2 "A103S,A1046D,A1182T,A1670T,A255T,A697T,A937V,C1477R,D1018G,D1099Y,D1289N,D2243E,D446E,D831N,D917N,E1005K,E1172G,E1916A,E284K,E815G,F2009S,F2163S,F249L,G1216V,I1298V,I1517R,I1555T,I235V,I35V,I883M,K1587R,K401Q,K776N,L1379F,L1648P,L2168P,M1091T,M987V,N1185S,N1611D,N1800H,N879S,N935H,N935S,P1065S,P2150L,P248A,P85L,Q205H,Q2196H,Q597R,R1068C,R1341T,R1344W,R1417H,R1615Q,R1680Q,R1680W,R1839H,R1851Q,R1897W,R1901S,R1925Q,R2081W,R219K,R230C,R496W,R587W,R638Q,R999C,R999L,S1181F,S1255R,S1376G,S1506L,S1731C,S1886P,S212T,S364C,T774P,T774S,T929I,V1054I,V1096I,V1704D,V2244I,V399A,V724M,V771M,V825I,W590L,W590S,W840R,Y482C" "0,1,0,0,1,0,1,1,0,1,1,0,0,0,0,0,0,0,1,0,1,0,0,1,0,1,0,0,0,0,0,0,0,1,0,0,1,0,0,1,1,0,1,1,1,1,0,1,0,1,1,1,0,0,0,0,0,1,0,1,1,1,1,1,0,1,0,1,0,0,0,0,0,0,1,0,0,0,1,0,0,1,0,0,1,0,0,0,0,0,1,1,1,1" 19 313 hgmd700;evn451;dbsnp220;hgmd0613_543 NP_001002295;NP_001002295.1 "A207D,D160E,G242S,G432A,L417V,S32G,T169A,T215A" "0,0,0,0,0,0,0,0" 2625 7002 hgmd701;sw3242;evn1153;dbsnp27620;hgmd0613_870 NP_002043;GATA4_HUMAN;NP_002043.2 "A343T,A346V,A411V,A442V,A6V,D425N,E359K,E360Q,G296C,G296R,G296S,G369V,G93A,H376Q,L403M,M310V,P163S,P331S,P407Q,Q316E,R283H,R43W,S377G,S429T,S52F,T280M,V414I,V431G" "0,1,1,1,1,1,1,0,1,1,1,0,1,0,1,1,1,0,1,1,1,1,0,1,1,1,0,0" 2626 7719 hgmd702;sw8636;dbsnp10659;hgmd0613_1342 NP_005248;GATA6_HUMAN;NP_005248.2 "A178V,A21G,A284G,A343T,A459T,A467T,A575P,G15R,K473Q,L198V,N466D,N466H,R456C,R456H,S184N,T452A" "1,0,0,0,0,1,0,0,1,1,1,1,1,1,1,1" 2627 5190 hgmd703;dbsnp20076;hgmd0613_126 NP_000149;NP_000149.3 "A673T,C88S,E498K,H291R,I59T,I66V,N626S,P40T,R190G,R515C,R524Q,R576C,T507A,T507S,V287L" "0,0,0,0,0,0,0,0,0,1,1,0,0,0,0" 2632 4057 hgmd704;pmd747.1;sw8646;spmut756;dbsnp12525;hgmd0613_127 NP_000150;GCDH_HUMAN;NP_000150.1 "A122V,A195T,A293T,A298T,A298V,A349T,A362D,A382T,A421T,A421V,A433E,C115Y,C308S,C375R,E365K,E414K,F236L,G101R,G178R,G354R,G354S,G390A,G390R,H403R,L179R,L283P,L309W,L407P,M191T,M263V,M266V,M405V,N392D,N406K,P278S,Q333E,R128G,R138G,R161Q,R227P,R257Q,R257W,R294W,R313W,R355C,R355H,R383C,R383H,R386Q,R402Q,R402W,R88C,R94L,S139L,S305L,T416I,T429M,V148I,V400M,Y295H" "1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2639 7798 hgmd705;pmd524.2;pmd3452.1;pmd4367.1;sw2845;hgmd0613_129 NP_000152;GCH1_HUMAN "A74V,C141R,C141W,D115N,D134V,F234S,G108D,G15D,G201E,G203R,G83A,G90V,H144P,H153P,I135K,K224R,L163R,L71Q,L79P,M102K,M102R,M211I,M211V,M213V,M221T,P199L,P23L,Q180R,R184H,R241W,R249S,R88P,R88W,S176T,T106I,T186K,V191I" "1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2643 11905 hgmd706;sw2999;spmut924;evn635;dbsnp27029;hgmd0613_130 NP_000153;HXK4_HUMAN;NP_000153.1 "A119D,A11T,A188T,A259T,A384T,A53S,A6V,C213R,C382Y,C461S,D217N,D4N,E221K,E256K,E279Q,E300K,E300Q,E319K,E70K,F150S,G227C,G261E,G261R,G299R,G385V,G80A,G80S,H137R,I110T,K414E,L164P,L309P,M107T,M210K,M210T,Q239E,Q323L,R36W,R392C,R422Q,S131P,S336L,T168P,T209M,T228M,T361A,V182M,V203A,V226M,V367M,V455M,W257R,Y108H" "1,0,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1" 2645 2477 hgmd707;evn763;dbsnp18284;hgmd0613_779 NP_001477;NP_001477.2 "A519T,C193Y,E77G,H590Y,K43E,L446P,M317I,Q234P,R259Q,R259W,R478H,R51Q,R540Q,S458R,S69P,T315A,T401M,T82A,V103M,Y307D" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1" 2646 4844 hgmd708;sw3336;evn511;dbsnp25310;hgmd0613_783 NP_001489;GSH1_HUMAN;NP_001489.1 "A511T,D347N,E596K,H370L,I134V,L55S,P158L,P462S,R127C,S507I,S591G,S629G,S631N,T222P,T508M,V472A" "0,0,0,1,0,0,1,0,1,0,0,0,0,0,0,0" 2729 4721 hgmd709;sw1045;dbsnp25049;hgmd0613_1264 NP_004743;GCM2_HUMAN;NP_004743.1 "A117V,A3V,D107N,D43E,D53N,G203S,G63S,I227V,K56N,M354V,M448V,N315D,N502H,Q7H,R110W,R177G,R406Q,R47L,S285A,V382M,V495A,Y282D,Y394S" "0,0,0,0,0,0,1,0,0,0,0,0,1,0,1,0,0,1,0,0,0,0,0" 9247 6540 hgmd70;sw11046;dbsnp8118;hgmd0613_1811 NP_057717;AHSP_HUMAN;NP_057717.1 "A13P,L21P,N75I,P100T,P99L" "0,0,0,0,0" 51327 14617 hgmd710;sw4195;evn775;dbsnp25115;hgmd0613_780 NP_001482;GNT2B_HUMAN;NP_001482.1 "E379K,H254R,L248M,L3S,P85R,R110S,R43M" "0,0,0,0,0,0,0" 2651 8552 hgmd711;sw8140;spmut759;evn106;dbsnp27939;hgmd0613_1911 NP_061845;GDAP1_HUMAN;NP_061845.2 "A20T,E114G,E3G,G10A,H256R,I186V,I348V,I86V,R120Q,R120W,R161H,R282C,R282H,R310Q,T157P" "0,0,0,0,1,0,0,0,1,1,1,1,1,1,1" 54332 9469 hgmd712;sw10696;evn673;dbsnp3757;hgmd0613_1953 NP_065685;GDF3_HUMAN;NP_065685.1 "G213R,L258V,L305P,R195Q,R195W,R266C,R274W,V328L" "0,0,1,1,0,1,1,0" 9573 9312 hgmd713;sw3199;evn868;dbsnp16060;hgmd0613_456 NP_000548;GDF5_HUMAN;NP_000548.1 "A117S,A117T,C400Y,E442D,E491K,F9L,G130R,G81R,H440L,L10S,L373R,L441P,M173V,P166H,P383L,P436T,Q116R,R163C,R163G,R378Q,R380Q,R399C,R438L,S247L,S276A,S439T,S475N,T83K" "0,0,1,0,1,0,0,0,1,0,1,1,1,0,0,1,0,0,0,1,1,1,1,0,0,1,1,0" 8200 6628 hgmd714;sw6000;dbsnp28179;hgmd0613_540 NP_001001557;GDF6_HUMAN;NP_001001557.1 "A199T,A249E,D216G,G38R,G42V,K110E,K424R,L289P,P327H,Q119R,Q253L" "1,1,1,0,1,0,1,1,1,1,1" 392255 7481 hgmd715;sw2856;evn318;dbsnp30089;hgmd0613_782 NP_001484;GDIA_HUMAN;NP_001484.1 "C394S,D256Y,L92P,R423P,T360M,T427M,V206I" "0,0,1,1,0,0,0" 2664 7637 hgmd716;sw3092;evn609;dbsnp23865;hgmd0613_420 NP_000505;GDNF_HUMAN;NP_000505.1 "D150N,I182T,I211M,N115K,P21S,P44S,R104G,R104K,R93W,T154S" "1,0,1,0,1,0,0,0,1,1" 2668 12381 hgmd717;sw2166;evn431;dbsnp8803;hgmd0613_871 NP_002046;GFAP_HUMAN;NP_002046.1 "A145T,A149G,A244V,D114E,D295N,D351E,D78E,E223Q,E362D,L76F,N77Y,P44A,P47L,R105W,R239C,R239H,R258P,R416W,R79C,R79H,R88C,R88S,V226M,V318A" "0,0,1,0,0,0,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,0,0" 2670 7197 hgmd718;sw3710;dbsnp8023;hgmd0613_1343 NP_005253;ALR_HUMAN;NP_005253.3 "D197E,F166L,G198S,R194H" "0,0,0,1" 2671 12845 hgmd719;sw9493;spmut761;evn791;dbsnp14231;dbsnp14232;dbsnp14233;hgmd0613_1344 NP_005254;GFI1_HUMAN;NP_001120687.1;NP_005254.2;NP_001120688.1 "E240Q,K403R,L400F,N382S,P107A,P23S,P51S" "0,1,0,1,0,0,0" 2672 8099 hgmd71;sw10036;spmut66;evn350;dbsnp4466;hgmd0613_1956 NP_065712;AICDA_HUMAN;NP_065712.1 "F151S,L106P,M139V,R24W,R25C,R25H,R9K,W80R" "1,1,1,1,0,0,0,1" 57379 12997 hgmd720;sw9366;evn866;dbsnp20427;hgmd0613_2096 NP_079272;EFGM_HUMAN;NP_079272.4 "A244V,A74S,D448G,I223V,M190L,M205I,M496R,N159S,N174S,N43D,Q263R,V125M,V215I,V664I" "0,0,0,0,0,0,1,0,1,0,0,0,0,0" 85476 3601 hgmd721;pmd452.1;pmd491.1;pmd1302.1;sw3075;spmut2355;evn291;dbsnp18067;hgmd0613_505 NP_000812;VKGC_HUMAN;NP_000812.2 "A730P,D31N,F299S,G558R,H189R,H235P,I278T,I669S,L394R,L634P,N177D,P636T,Q329E,Q613E,R325Q,R406H,R476C,R476H,R485P,S306R,T527I,T739M,V602I,W493S,W501S" "0,1,1,1,0,0,0,0,1,0,0,0,0,0,0,0,1,1,1,0,0,0,0,1,1" 2677 3533 hgmd722;pmd1585.6;pmd1825.1;pmd1842.1;pmd1964.1;pmd1965.1;pmd1966.1;pmd1982.1;pmd1983.1;pmd2049.1;pmd2050.1;pmd2155.1;pmd2783.1;pmd2784.1;pmd2859.1;pmd2860.1;pmd2861.1;pmd2862.2;pmd3458.1;pmd3459.1;pmd3460.1;pmd3552.1;pmd3553.1;pmd4355.1;sw1507;evn270;dbsnp8523;hgmd0613_421 NP_000506;SOMA_HUMAN;NP_000506.2 "A39V,C79S,D138G,D179H,D37N,E100K,F51Y,G14A,I205M,K67R,L16P,L183F,N175K,N73D,Q117L,R103C,R209H,R42C,S105C,S121R,S134C,S134R,S97F,T201A,T3A,T53I,V136I" "0,1,1,0,1,1,1,0,1,1,1,0,0,1,1,1,1,1,0,0,1,1,1,1,1,1,0" 2688 11791 hgmd723;pmd1803.1;pmd1961.1;pmd4037.2;pmd4038.2;sw2017;spmut767;dbsnp22863;dbsnp22867;dbsnp22868;dbsnp22869;dbsnp22870;dbsnp22871;dbsnp22872;dbsnp22873;hgmd0613_131 NP_000154;GHR_HUMAN;NP_000154.1;NP_001229335.1;NP_001229330.1;NP_001229334.1;NP_001229333.1;NP_001229332.1;NP_001229331.1;NP_001229329.1 "C440F,C514W,C56S,D170H,D262N,D369E,E242D,E465K,E62K,F114S,G80V,I171M,I171T,I272V,I28V,I544L,N323S,N561K,P149Q,P495T,Q172P,R179C,R179H,R229G,R386C,R89K,S244I,S58L,V143A,V162D,V162F,V162I,V173G,W4R,W68R,Y226C" "1,0,1,1,1,0,1,0,1,1,0,0,1,0,0,0,0,0,1,0,1,1,0,1,0,1,1,1,1,1,0,1,1,0,1,1" 2690 4640 hgmd724;pmd729.2;pmd730.2;sw4095;sws495;dbsnp26189;hgmd0613_506 NP_000814;GHRHR_HUMAN;NP_000814.2 "A120V,A176V,A222E,F172L,F242C,K329E,L144H,M422T,P280L,R4W,S414L,T171S,V110M,V164I" "0,1,1,0,1,1,1,0,0,0,0,0,0,0" 2692 8074 hgmd725;sw8619;evn1137;dbsnp21395;hgmd0613_2465 NP_940799;GHSR_HUMAN;NP_940799.1 "A204E,A358T,C275R,D194E,G245R,I273V,I325N,L42V,L91F,P6H,T5I" "1,0,0,0,0,0,0,0,0,0,0" 2693 9271 hgmd726;sw2677;evn294;dbsnp2498;hgmd0613_1316 NP_005133;IF_HUMAN;NP_005133.2 "A377T,D83N,G277R,G65R,L9P,M97T,N255S,N84T,P152L,P304S,Q23R,R352C,S240P,S46L,T250M,V28I,V380I,Y52N" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 2694 8227 hgmd727;sw6350;evn21;dbsnp18528;dbsnp18531;hgmd0613_665 NP_001096616;PERQ2_HUMAN;NP_001096616.1;NP_056390.2 "A637V,D349E,D606E,D687N,E1085D,F394L,H1171R,I278V,K421R,L1209P,L1209Q,L307R,M48I,M746I,N1095K,N457T,N56S,P1221Q,P423L,P460T,Q1226P,R168H,R961Q,S1035C,S335T,S424T,S477I,T112A,T405M,V1242I" "0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,1,0,1" 26058 1133 hgmd728;sw2323;evn482;dbsnp24709;hgmd0613_132 NP_000156;CXA1_HUMAN;NP_000156.1 "A168T,A253P,A253T,A253V,A257T,A40V,D124E,E110D,E352G,G138R,G143S,G21R,G22E,G242R,G2V,H194P,H331Y,H95R,I130T,I31M,K102N,K134E,K134N,K23T,L106P,L113P,L11P,L347I,L7V,L90V,M147T,P283L,P59H,Q49K,Q49P,R148Q,R202C,R202H,R239W,R362Q,R376Q,R76H,R76S,S18P,S201F,S220Y,S251T,S27P,S364P,S365N,S373G,S69Y,T154A,T154N,T204M,T290N,T326A,V121A,V216L,V240D,V240I,V41L,V96A,V96E,V96M,Y17S,Y185H,Y98C" "0,1,0,0,0,1,0,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,0,0,1,0,0,1,1,1,1,1,0,1" 2697 8934 hgmd729;sw12064;evn484;dbsnp4942;hgmd0613_2005 NP_068773;CXA3_HUMAN;NP_068773.2 "D3Y,D47N,F32L,G2D,L11S,L299M,M1I,N188T,N63S,P187L,P187S,P410L,P59L,R133Q,R33L,R76G,R76H,T87M,V28M,V44M,W45S" "1,1,1,1,1,0,0,1,1,1,1,0,1,0,1,1,1,1,1,1,1" 2700 7848 hgmd72;sw286;evn74;dbsnp1505;hgmd0613_1136 NP_003968;AIP_HUMAN;NP_003968.2 "A176T,D172E,E173K,G23E,K241E,Q228K,Q307P,Q307R,R128C,R16H,R271W,R304Q,R9Q,T40M,V101M" "0,0,0,0,1,0,0,0,0,1,1,1,0,0,0" 9049 10133 hgmd730;sw3320;evn483;dbsnp15424;hgmd0613_1346 NP_005258;CXA8_HUMAN;NP_005258.2 "E13D,E332K,E48K,F300L,G376R,I247M,K131N,L7M,N220D,N298S,P336L,P386L,P88S,R198Q,R23T,T146I,V129I,V372L,V44E,V64G" "0,0,1,0,0,1,0,0,0,0,0,0,1,1,1,0,0,0,1,1" 2703 7887 hgmd731;pmd4012.1;pmd4013.1;sw1805;dbsnp30483;dbsnp30484;hgmd0613_133 NP_000157;CXB1_HUMAN;NP_001091111.1;NP_000157.1 "A147D,A161P,A39P,A39V,A40T,A40V,C168R,C168Y,C173R,C179R,C201R,C201Y,C280G,C60F,C64F,C64S,D178Y,E102G,E146K,E186K,E208G,E208K,E41K,F141L,F149I,F149V,F153S,F180L,F180S,F193C,F193L,F235C,F29L,F69L,G12S,G159D,G159S,G199R,G21D,G59C,G59R,H100Y,H126Y,H16P,H94D,H94Y,I127M,I127S,I203N,I20S,I213V,I28N,I28T,I30N,I30T,K103E,K104T,K124N,K187E,L108P,L131P,L156F,L156R,L204F,L204V,L239I,L25F,L25P,L56F,L81F,L83P,L89P,L90H,L90V,L9W,M194V,M34I,M34K,M34T,M34V,M93V,N14K,N175D,N205I,N205S,P158A,P158R,P158S,P172A,P172L,P172R,P172S,P184L,P184R,P58R,P70A,P87A,P87L,P87S,Q57H,Q80R,R107W,R142E,R142Q,R142W,R15Q,R15W,R164Q,R164W,R183C,R183H,R183S,R215Q,R215W,R219C,R219H,R220G,R22G,R22P,R22Q,R230C,R230L,R238H,R264C,R75P,R75Q,R75W,S11G,S128P,S138N,S182T,S198F,S26L,S26W,S49P,S49Y,S50P,S85C,S85F,T130I,T191A,T55A,T55I,T55R,T86A,T86N,T86S,T8I,T8P,V120E,V125D,V136A,V139M,V13L,V13M,V177A,V177E,V181A,V181M,V189G,V189I,V192F,V23A,V35M,V37M,V38M,V43M,V63I,V84I,V91M,V95M,W133C,W133R,W24C,W3R,W3S,W44L,W77S,Y135C,Y151S,Y157C,Y160H,Y211H,Y65C,Y65H,Y7C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2705 11213 hgmd732;sw2734;evn359;dbsnp4982;hgmd0613_1141 NP_003995;CXB2_HUMAN;NP_003995.2 "A197S,C169Y,C202F,D159V,D179N,D46E,D50N,D50Y,D66H,E114G,E119K,E129K,F191L,F83L,G12R,G12V,G160S,G45E,G59A,G59S,H73R,I111T,I203K,I203T,I71T,K168R,K221R,L214P,L79P,L90P,M163V,M34R,M93I,N54K,Q80K,R127H,R143Q,R143W,R165W,R184P,R184Q,R184W,R32L,R75Q,R75W,S113R,S139N,S17F,T123N,T5A,T86R,V153I,V167M,V178A,V27I,V84M,V95M,W44C,W44S,W77R" "1,1,1,1,1,1,1,1,1,0,1,1,0,0,1,1,0,1,1,1,1,0,1,0,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,1,1,0,1,1,1,1,1" 2706 7848 hgmd733;sw1069;evn360;dbsnp13481;dbsnp13482;hgmd0613_2048 NP_076872;CXB3_HUMAN;NP_001005752.1;NP_076872.1 "C86S,D66G,E183K,F137L,G12D,G12R,H105N,I141V,K56R,L116R,R106C,R22C,R42P,T238P,V200I,V37L,V37M,V63I,Y177D" "1,0,1,1,1,1,0,1,0,0,0,0,1,0,0,0,0,0,1" 2707 11427 hgmd734;sw10810;dbsnp13979;hgmd0613_2355 NP_694944;CXB4_HUMAN;NP_694944.1 "E204A,F69L,N62S,R103C,R124Q,R151S,R160C,R222W,T181M,V141M,V37M" "0,0,0,0,0,0,0,0,0,0,1" 127534 11427 hgmd735;sw1307;evn358;dbsnp5194;dbsnp5195;dbsnp5196;dbsnp5197;hgmd0613_1539 NP_006774;CXB6_HUMAN;NP_001103689.1;NP_001103690.1;NP_006774.2;NP_001103691.1 "A88V,D114E,G11R,G59R,N113K,N159S,S139G,S199T,S261G,T5M,V207M,V37E" "1,0,1,1,0,0,0,0,0,1,0,1" 10804 11213 hgmd736;sw5620;evn1053;dbsnp15326;hgmd0613_1942 NP_065168;CXG2_HUMAN;NP_065168.2 "A181G,A312P,D185N,G149S,H19P,I36M,M286T,P316L,P373T,P90S,Q356K,R125Q,R260C,S307P,S48L,Y272D" "0,0,0,1,1,1,1,1,0,1,0,1,1,0,1,1" 57165 7780 hgmd737;evn302;dbsnp26960;hgmd0613_2433 NP_853516;NP_853516.1 "A267V,G200C,L233P,P164S,R119W,S199R" "0,0,0,0,0,0" 349149 11287 hgmd738;evn54;dbsnp30391;hgmd0613_134 NP_000158;NP_000158.1 "E398K,G470S,I103L,I272N,K340E,K5N,L257S,M411T,T341S" "0,0,0,0,0,0,0,0,0" 2710 5696 hgmd739;pmd473.1;pmd474.2;pmd1813.1;pmd2017.1;pmd3321.1;sw1726;dbsnp30225;hgmd0613_136 NP_000160;AGAL_HUMAN;NP_000160.1 "A135V,A143P,A143T,A156T,A156V,A20P,A230T,A285P,A288D,A31V,A368P,A368T,A377D,A97V,C142R,C142Y,C172R,C172Y,C202W,C202Y,C223G,C378Y,C52R,C52S,C56F,C56G,C56Y,C94S,C94Y,D165V,D170V,D231N,D234E,D244H,D244N,D264V,D264Y,D266H,D266N,D266V,D92H,D92Y,D93G,D93N,E338K,E341K,E358A,E358K,E59K,F113L,F113S,F396Y,G128E,G138R,G144V,G163V,G171D,G183D,G258R,G260A,G261D,G328A,G328R,G328V,G35R,G360C,G361R,G373D,G373S,G43R,G85D,H46P,H46R,H46Y,I219N,I219T,I242N,I289F,I91T,L120V,L131P,L166V,L300F,L32P,L3P,L414S,L89P,L89R,M187V,M267I,M284T,M296I,M296V,M42L,M42V,M72V,N215S,N224D,N224S,N263S,N272K,N272S,N298H,N298K,N298S,N320K,N320Y,N34S,P146S,P205T,P259L,P259R,P265R,P409A,P409T,P40L,P40S,Q279E,Q279H,Q280H,Q321E,Q327K,R100K,R100T,R112C,R112H,R112S,R118C,R227Q,R301Q,R342Q,R356Q,R356W,R363H,R49L,R49P,R49S,S126G,S148N,S148R,S201F,S235C,S276G,S297F,S65T,T410A,V269A,V316E,V316I,W162C,W162R,W226R,W236C,W236L,W287C,W287G,W340R,W47G,W95S,Y134S,Y216D,Y86C" "1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1" 2717 7958 hgmd73;sw11070;spmut68;evn304;dbsnp9310;hgmd0613_1681 NP_055151;AIPL1_HUMAN;NP_055151.3 "A128V,A197P,A285E,A285T,A336T,C239R,D90H,G262S,H82Y,I206N,M79T,P370T,Q288R,R270H,R302L,R324L,R53W,T356P,T47R,V33A,V96I,Y134F,Y246S" "0,1,0,0,0,1,0,1,1,1,1,0,0,1,1,0,1,0,0,0,1,1,0" 23746 8903 hgmd740;sw2267;dbsnp20234;hgmd0613_334 NP_000395;BGAL_HUMAN;NP_000395.2 "D151V,D151Y,D198Y,D214Y,D332E,D332N,D441N,D491N,D491Y,E632G,G123R,G134V,G190D,G272D,G438E,G494C,G494S,G554E,G579D,H281Y,H541Y,I51T,K346N,K578R,K73E,L155R,L162S,L173P,L264S,L422R,L476V,M132T,N266S,N318H,N484K,P136S,P263S,P397A,P549L,P597S,Q184R,Q255H,Q408P,R109W,R121S,R148C,R148S,R201C,R201H,R208C,R442Q,R457Q,R482C,R482H,R49C,R49H,R590C,R590H,R595W,R59C,R59H,R68Q,R68W,S149F,S434L,S532C,S532G,T239M,T249A,T329I,T420K,T420P,T500A,T510K,T615N,T82M,V216A,V240M,W273L,W509C,Y199C,Y270D,Y316C,Y333H,Y347C,Y444C,Y591C,Y591N,Y83C,Y83H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2720 4293 hgmd741;sw2567;evn839;dbsnp29089;hgmd0613_137 NP_000161;GCSP_HUMAN;NP_000161.2 "A283P,A355T,A364T,A569T,A624T,A64S,A794T,C291G,C444Y,D793N,E597D,G42R,H959C,I938V,K439N,K540Q,K672R,L207V,L220F,L462V,L716H,M107V,M895V,N634D,N709S,P329T,Q234E,R14S,R21L,R224H,R374K,R410K,R515S,S34G,S564I,S951Y,T846K,V611I,V705M,V735L,V785I,V955I,Y211H" "1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,1,0,1,0,0,0,0,0,0,0,0" 2731 2023 hgmd742;sw5361;dbsnp28669;hgmd0613_546 NP_001003722;GLE1_HUMAN;NP_001003722.1 "D275N,E152G,E334K,G130D,I243V,I684T,P2R,P370L,R227C,R316Q,R569H,R590Q,S465T,V617M" "0,0,0,0,0,1,0,0,0,0,1,0,0,1" 2733 4089 hgmd743;sw1972;evn448;dbsnp18664;hgmd0613_1347 NP_005261;GLI2_HUMAN;NP_005261.2 "A1156S,A200T,A203T,A268V,A40V,D1306N,D1520E,D1520N,D449H,E1050D,E837K,F729L,G1197D,G1400C,G748R,L1445F,L1488F,M1241I,M1352V,M1444I,N601S,P1315S,P1554L,P625S,P712A,P932S,Q1176H,R102Q,R1098K,R1543H,R479G,R600C,R720H,S1209I,S1555P,S579I,T1082A,T1294M,T1380A,T620M,V1117L,V1318I,V1361L,V432M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 2736 745 hgmd744;sw1973;sws204;spmut772;evn372;dbsnp26014;hgmd0613_135 NP_000159;GLI3_HUMAN;NP_000159.3 "A1115T,A130V,A879T,A934P,C515G,C520Y,D1090G,D1119E,D440E,D734N,G1329S,G1336E,G1369S,G727R,G914S,G967A,H1533Y,I808M,M1552L,N1314T,N722S,N815K,P1222S,P1298L,P668L,P707S,P799A,P998L,Q1261H,R114K,R1537C,R180Q,R625W,R667Q,R847K,S1028I,S1043N,S1461F,S280P,T1070S,T183A,T669I,V1185M,V71F,V71I,V97L" "0,0,0,1,1,1,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 2737 753 hgmd745;sw3207;evn121;dbsnp24472 NP_002053;GLP1R_HUMAN;NP_002053.3 "A316T,G132W,G168R,G168S,H374N,L260F,P7L,R131L,R131P,R131Q,R20K,R376Q,R421Q,R421W,R44H,S333C,V249M,W264R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2740 7337 hgmd746;evn1157;dbsnp23953;hgmd0613_138 NP_000162;NP_000162.2 "G360V,G370S,I15M,I418V,M432I,N389T,P35S,P394A,P394L,R349Q,S388N,S388T,Y2H" "0,1,0,0,0,0,0,0,0,0,0,0,0" 2741 7333 hgmd747;sw3321;evn595;dbsnp22698;dbsnp22700;hgmd0613_507 NP_000815;GLRB_HUMAN;NP_000815.1;NP_001159532.1 "A8P,F3L,G218E,G251D,G378E,I226V,K31R,L10F,M199R,N455S,T6A,T7I,V380A,Y21C" "0,0,0,1,0,0,0,0,1,0,0,0,0,0" 2743 6709 hgmd748;sw1433;spmut502;evn1155;dbsnp922;hgmd0613_1348 NP_005262;DHE3_HUMAN;NP_005262.1 "D126N,D334E,E349A,G31A,G499D,G499S,H507Y,P43Q,R274C,R318K,R318T,R322C,R322H,S21A,S23A,S270C,S498L,S501P,T524A,W32R,Y319C" "0,0,1,0,1,1,1,0,1,1,1,1,1,0,0,1,1,1,0,0,1" 2746 5717 hgmd749;sw2206;evn1076;dbsnp15425;dbsnp15426;dbsnp15427;hgmd0613_873 NP_002056;GLNA_HUMAN;NP_001028216.1;NP_002056.2;NP_001028228.1 "N362S,R107K,R324C,R341C,T116I" "0,0,1,1,0" 2752 9129 hgmd74;pmd23.2;pmd606.1;sw777;spmut69;dbsnp16979;hgmd0613_318 NP_000374;AIRE_HUMAN;NP_000374.1 "A21V,A373V,C311Y,D503N,F77S,G228W,G305S,K83E,L28P,L29P,L93R,P116L,P166L,P200L,P252L,P326L,P326Q,P400L,P539L,R15C,R15L,R247C,R303P,R328W,R351W,R471C,S187L,S278R,T16M,T183N,V199I,V301M,V80L,W78R,Y85C,Y90C" "1,0,1,0,1,1,1,1,1,1,1,0,0,0,1,1,1,0,1,1,1,0,1,0,0,0,0,0,1,0,0,1,1,1,1,1" 326 5907 hgmd750;sw2341;dbsnp22972;hgmd0613_335 NP_000396;SAP3_HUMAN;NP_000396.2 "A19T,C138R,I59V,M69V,R169P,S32N,V153A,V82L" "0,1,0,0,1,0,0,0" 2760 13116 hgmd751;sw3882;spmut782;evn474;dbsnp16586;hgmd0613_422 NP_000507;GNAS2_HUMAN;NP_000507.1 "A366S,D139N,D156N,E259V,E392K,F246S,I106S,K338N,L388R,L99P,P115L,P77L,Q227H,Q227R,R165C,R201C,R201G,R201H,R201L,R201S,R231H,R258W,R280G,R280K,R380L,R385H,S250R,T242I,V159M,W281R" "1,0,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1" 2778 1952 hgmd752;sw2057;spmut783;evn466;hgmd0613_2296 NP_653082;GNAT1_HUMAN;NP_000163.2 "A222P,D287N,E137D,E293D,F271S,F271T,G38D,S94P" "0,0,0,0,0,0,1,0" 2779 9547 hgmd753;sw11707;evn397;dbsnp29100;hgmd0613_1374 NP_005467;GLCNE_HUMAN;NP_005467.1 "A458S,A460V,A524V,A600T,A630T,A631T,A631V,A636V,C303V,D176V,D208E,D225N,D378Y,D575N,E37D,F528C,F562Y,G206S,G576E,H132Q,I200F,I423V,I430V,I472T,I557T,I587T,I721V,M171V,M712T,N519S,P27S,P36L,R162C,R177C,R246Q,R246W,R263L,R266Q,R266W,R306Q,S673N,S689P,V216A,V331A,V572L,V682I,V696M,V702I,Y675H" "0,1,1,1,1,1,1,0,1,1,0,1,1,0,0,1,0,1,1,1,1,0,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,0,1,0,1" 10020 3589 hgmd754;sw4740;dbsnp25613;hgmd0613_1909 NP_061833;GNMT_HUMAN;NP_061833.1 "H177N,L50P,N141S,R157W,V125M,V269I" "1,1,1,0,0,0" 27232 10970 hgmd755;sw553;evn441;dbsnp14387;hgmd0613_1668 NP_055051;GNPAT_HUMAN;NP_055051.1 "A631V,I473V,L470F,R210Q,R211C,R211H,S9F,T553M,V22A,V464M,V495I,V497I,Y586H" "0,0,0,0,1,1,0,0,0,0,0,0,0" 8443 4265 hgmd756;sw5248;evn642;dbsnp4026;hgmd0613_2060 NP_077288;GNPTA_HUMAN;NP_077288.2 "A300S,A662G,A866G,A955V,C442Y,C461G,D190G,D190V,D407A,F24V,F374L,G871S,H554R,H956Y,I348L,I403T,I478T,I656V,K113E,K1236M,K4Q,L1001P,L785W,N1153S,N621S,P176L,Q926P,R1237Q,R46Q,R861K,S390G,S399F,S860N,T1066M,T206Q,T609N,T644I,V571I,V818L" "0,0,0,0,1,1,0,1,1,0,1,0,0,1,1,1,0,0,0,1,1,1,0,1,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0" 79158 1264 hgmd757;dbsnp7733;hgmd0613_2168 NP_115909;NP_115909.1 "G106S,H150Q,R272G,S304G,T211S,V158I" "1,0,0,0,0,0" 84572 10747 hgmd758;pmd809.2;pmd4066.2;pmd4421.2;pmd4422.2;pmd4423.2;sw2851;evn183;dbsnp22360;hgmd0613_336 NP_000397;GNRHR_HUMAN;NP_000397.1 "A129D,A171T,E90K,H247Y,L300V,N10K,P146S,Q106R,R139H,R262Q,S168R,S217R,V155L,Y284C" "1,1,1,0,0,1,1,1,1,1,1,1,0,1" 2798 10187 hgmd759;sw2234;evn867;dbsnp4497;hgmd0613_874 NP_002067;GNS_HUMAN;NP_002067.1 "G33A,G36R,G418E,G527R,H550Q,K340R,L396F,M458I,P485A,R12W,R13Q,R193W,R2Q,R533H,S94I,T494S" "0,0,1,0,0,1,0,0,0,0,0,0,0,0,1,0" 2799 5805 hgmd75;pmd35.1;pmd3699.1;pmd3700.1;pmd3800.1;pmd3801.1;pmd3974.1;sw1453;dbsnp28866;hgmd0613_386 NP_000467;KAD1_HUMAN;NP_000467.1 "A162T,E123Q,G137R,G40R,G64R,I60T,K83R,R128W,Y164C" "0,0,0,1,1,0,0,1,1" 203 5656 hgmd760;sw5662;dbsnp13172;hgmd0613_2331 NP_689494;GORAB_HUMAN;NP_689494.2 "A245S,E320K,F249L,L116H,R170H,R234W,V120A" "0,0,0,0,0,0,0" 92344 8699 hgmd761;dbsnp8533;hgmd0613_139 NP_000164;NP_000164.5 "L86F,R72H,T161M,V31A" "0,0,0,0" 2811 4564 hgmd762;pmd750.2;pmd751.1;sw2116;evn538;hgmd0613_337 NP_000398;GP1BB_HUMAN;NP_000398.1 "A133P,P19Q,R177S,S206F,Y113C" "1,0,0,0,1" 2812 12825 hgmd763;dbsnp11197;hgmd0613_646 NP_001077368;NP_001077368.1 "F606L,G278S,G499S,P314A,R573G,R576K,S589G,T597P" "0,0,0,0,0,0,0,0" 51206 4906 hgmd764;sw2192;dbsnp20565;hgmd0613_140 NP_000165;GPIX_HUMAN;NP_000165.1 "C113Y,C24R,D37G,D81N,F71S,L56P,L7P,N61S,P68L,R27H,R97H" "1,1,1,0,1,1,1,1,0,0,0" 2815 13410 hgmd765;sw3518;evn138;dbsnp30071;hgmd0613_1213 NP_004475;GPC3_HUMAN;NP_004475.1 "A535V,E291K,G276S,I514M,K453N,M478V,Q332R,R120H,R387Q,S539N,S539T,T226A,V290L,V372I,V429M,V5M,W296R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 2719 5108 hgmd766;sw7406;evn11;dbsnp21169;hgmd0613_1732 NP_055956;GPD1L_HUMAN;NP_055956.1 "E174K,E83K,I124V,L178F,L318V,M237I,M78I,R220H,R273C,S342C" "0,1,1,0,0,0,0,0,1,0" 23171 9620 hgmd767;sw3214;evn114;dbsnp18402;dbsnp18403;hgmd0613_642 NP_001076581;GPDM_HUMAN;NP_000399.3;NP_001076581.2 "A569V,C188F,C45Y,E492K,H363P,I308V,I372V,I75F,I75V,K453Q,L576V,M136I,P205L,P717S,Q639K,R264H,R298C,R525C,R525H,R596K,R615C,V194I,V21A,V394I,V452I,Y586H" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 2820 3808 hgmd768;evn266;dbsnp6090;hgmd0613_1966 NP_065857;NP_065857.1 "A91T,N267S,S272A,T273A,T9S,V254I,V43L" "0,0,0,0,0,0,0" 10243 3449 hgmd769;pmd1398.1;sw1743;spmut739;evn42;dbsnp11160;hgmd0613_141 NP_000166;G6PI_HUMAN;NP_000166.2 "A197T,A232T,A232V,A300P,A522S,D539N,E23Q,E495K,G158V,G159S,G177E,H20P,H389R,I208T,I525T,L205V,L339P,L487F,L517V,M119I,M303L,N33D,Q343R,R106Q,R180H,R21G,R273H,R308H,R347C,R347H,R472H,R75G,R83W,S278L,T195I,T224M,T309M,T375R,T5I,V101M,V152I,V318I,V53L,V557I,V69M" "0,0,0,1,0,1,0,1,0,1,0,1,1,0,1,0,1,1,1,0,0,0,1,0,0,0,1,0,1,1,1,1,1,1,1,1,0,1,1,1,0,0,0,0,0" 2821 5569 hgmd76;sw3660;dbsnp14634;hgmd0613_799 NP_001616;KAD2_HUMAN;NP_001616.1 "A209T,D165G,D211N,E154K,I83V,N157K,R103W,R17G,S129N,S75I" "0,1,0,0,0,0,1,0,0,0" 204 12136 hgmd770;sw7046;dbsnp27817;hgmd0613_2427 NP_835466;HDBP1_HUMAN;NP_835466.1 "C14F,G123E,G175R,G56R,Q115P,S144F" "0,0,1,1,1,0" 338328 13274 hgmd771;sw3540;dbsnp30259;hgmd0613_226 NP_000264;GP143_HUMAN;NP_000264.2 "A138V,A173D,C116G,C116R,C116S,C116W,D78N,D78V,E185K,E233K,E235K,E271G,E349K,G118E,G229V,G35D,G360D,G81V,G84D,G84R,I244V,I261N,L134P,L398P,L39R,M346V,Q124R,R186P,R186W,R5C,R88W,S119N,S152N,S378N,S386G,S89F,T166N,T232K,V117M,W132R,W133R,W292C,W292G" "1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,0,1,0,1,1,1,1,0,0,1,0,0,1,1,1,0,1,1,1,1" 4935 8498 hgmd772;sw12033;spmut797;dbsnp7475;dbsnp7479;hgmd0613_1408 NP_005673;GPR56_HUMAN;NP_005673.3;NP_001139243.1 "A424T,C346S,C91S,G282R,I149V,M493T,P527L,P72S,Q306H,R38W,R565W,R598L,R598Q,R79Q,S214L,S214W,S281R,S5L,V329M,Y88C" "0,1,1,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,1" 9289 4132 hgmd773;dbsnp12486;hgmd0613_1890 NP_060955;NP_060955.1 "A148V,A222T,G156A,H329R,L299V,P233L,R147W,R204Q,T327P,V68L" "0,0,0,0,0,0,0,0,0,0" 27202 9959 hgmd774;sw8468;dbsnp23222;hgmd0613_2153 NP_115495;GPR98_HUMAN;NP_115495.3 "A123T,A2803T,A3217V,D1944N,D3550Y,E2897D,E3471K,E3867A,E3868A,E5203G,E5344G,F3347L,F4677L,G1097S,G2379A,G3248D,H5978R,I1187V,I1647V,I2858V,I3212V,I3985T,K5673E,K5673Q,L1093F,L1189F,L127R,L1952I,L2004F,L6249R,M5890K,M6159V,N1985D,N2345S,N2584S,N606T,P194H,P1987L,P4346L,P934S,Q4839E,Q613K,R2097C,R249K,R2625H,R4770H,R4789W,R5112H,S2764L,S3203T,S3646P,T1099A,T1916I,T1916S,T1927M,T4090N,T5437A,T5650S,V1951I,V2157M,V2203A,V3094I,V4198M,V5427M,V551A,V5876I,V64I,W4969R,Y2232C" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84059 10 hgmd775;sw4460;spmut802;evn155;dbsnp26389;hgmd0613_1351 NP_005302;GRB10_HUMAN;NP_005302.3 "C6S,D549E,D558H,E21K,E382D,I99V,P101L,P36L,P95S,S239N,V212E" "0,0,0,0,0,0,0,0,1,0,0" 2887 5203 hgmd776;sw11254;evn877;dbsnp28991;hgmd0613_1611 NP_036335;GRHPR_HUMAN;NP_036335.1 "H62C,I85F,I85V,K43Q,L6F,M234T,P321L,R170Q,R96C,S36T,V83A" "0,0,0,0,0,0,0,0,0,0,0" 9380 10188 hgmd777;dbsnp30570;hgmd0613_508 NP_000819;NP_000819.3 "A133T,G194R,G263R,I272M,K389T,R203S,R394Q" "0,0,0,0,0,0,0" 2892 2523 hgmd778;sw2899;evn400;dbsnp21782 NP_892027;GRK4_HUMAN;NP_892027.2 "A116T,A253T,A440V,A495T,C215R,D112N,D95H,E136D,G332S,H151L,H383Q,I81V,K31R,L425P,L457P,N317T,P61L,R342S,S530T,T183R,V247I,V473I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2868 5266 hgmd779;sw572;sws58;dbsnp23485;hgmd0613_512 NP_000834;GRM6_HUMAN;NP_000834.2 "A648V,A807V,D197N,E227K,E227V,E781K,G150S,I236F,M712V,P431L,P524L,Q59P,R381H,R527W,S685W,T436I,T436N,T565M,T613M,T817S,T863M,V324I,V724M,V837I,Y215H" "0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2916 2488 hgmd77;evn376;dbsnp26067;hgmd0613_1413 NP_005742;NP_005742.4 "A1194T,A1662V,A2405T,A2741T,A3043T,A458P,A561V,C1144R,C2765Y,D1507H,D152E,D1802N,D204N,D2389G,D2754G,D3555V,E170D,E2013K,E2059G,E2829K,E3149G,E3487K,E415K,E96D,H2457D,H47Y,H53R,H562R,I1448V,I1749T,I2546M,I3277T,I338V,I3558V,I3620V,I3647V,I3893V,I551V,I78T,I809V,I826T,K1542R,K2484R,K2762N,L1336Q,L2678P,M1400T,M1810V,M3079V,M3614V,M3743I,M3905T,M463I,N2045S,N2792S,N63D,N722D,P2979S,Q1397R,Q3031R,Q3418H,Q3444R,Q989H,R1110T,R1276Q,R1609K,R1614P,R1614Q,R3310Q,R3417C,R3742P,R3758H,R434Q,S1376T,S1388L,S1866T,S2186P,S27L,S2992L,S31N,S3373Y,S3767L,S479P,T155N,T1683M,T2046A,T2302M,T295A,T3468A,T3469P,T3853A,T786A,V1790G,V2440M,Y861H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10142 82 hgmd780;sw2728;dbsnp8587;hgmd0613_875 NP_002078;GRN_HUMAN;NP_002078.1 "A69T,A9D,C221S,D376N,F131L,G515A,P127A,P275L,R19W,R433Q,R55W,R564H,S120Y,S398L,T182M,V514M" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2896 5222 hgmd781;sw237;evn650;dbsnp22481;hgmd0613_637 NP_001073945;GRCR1_HUMAN;NP_001073945.1 "A47V,E9K,F153V,G51E,G56S,G64S,G91V,M260G,P38L,R138C,V97I" "0,0,1,0,0,1,0,0,1,1,0" 389207 11090 hgmd782;pmd943.2;pmd2258.1;sw1729;sws180;evn191;dbsnp28635;hgmd0613_142 NP_000168;GELS_HUMAN;NP_000168.1 "A127V,A129T,A292V,A570T,A94S,D214N,D214Y,D442N,D88A,F76L,G337S,G556R,K61R,N231D,P3L,R142L,R142W,R481C,R668L,R741Q,S411P,T265A,T367I,T367N,T563S,T616M,T695M,V179M,V460M,V606M,Y547C" "0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2934 3337 hgmd783;pmd4039.1;sw1436;evn163;dbsnp27493;hgmd0613_467 NP_000628;GSHR_HUMAN;NP_000628.2 "A199T,A20T,D353G,E297D,G232R,G232S,I261V,I357V,L27P,M273V,N366S,P14Q,P314H,R153C,R233C,S15G,S216R,T279M,V289A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2936 6250 hgmd784;pmd151.1;pmd3815.1;pmd3816.2;sw3347;evn276;dbsnp16604;hgmd0613_143 NP_000169;GSHB_HUMAN;NP_000169.1 "A26D,A352T,D11N,D219A,D219G,D469E,G376R,G464V,H290R,K437E,L188P,L254R,L286Q,P184A,P314L,P325S,R125C,R236Q,R267W,R283C,R330C,R418Q,T40A,Y199C,Y270C,Y270H" "1,0,0,1,1,1,0,1,0,0,1,1,1,0,1,0,1,0,1,1,1,0,0,0,1,1" 2937 7123 hgmd785;pmd4362.1;sw2474;spmut818;evn894;dbsnp12872 NP_000840;GSTM3_HUMAN;NP_000840.2 "C208F,E33K,L202I,L23P,M7L,Q203H,R86H" "0,0,0,0,0,0,0" 2947 12429 hgmd786;sw2843;spmut821;dbsnp17498 NP_000844;GSTT1_HUMAN;NP_000844.2 "A21T,D141N,E173K,R112W,R240W,T104P,V169I,W101R" "0,0,0,0,0,0,0,0" 2952 12028 hgmd787;sw6500;dbsnp25650;hgmd0613_2500 NP_997001;TF2H5_HUMAN;NP_997001.1 "L21P,V43I" "1,0" 404672 14868 hgmd788;pmd753.2;pmd4246.1;pmd4247.2;pmd4248.1;pmd4249.1;sw3201;evn520;dbsnp25602;hgmd0613_338 NP_000400;GUC1A_HUMAN;NP_000400.2 "A52T,D100E,E155G,E195Q,E198K,E89K,G159V,G69C,L151F,P50L,R40C,S51L,T114I,T128S,T129A,Y99C" "0,1,1,0,0,1,1,0,1,1,0,0,1,0,0,1" 2978 12931 hgmd789;sw11597;dbsnp25684;hgmd0613_876 NP_002089;GUC1B_HUMAN;NP_002089.4 "A64T,E155D,G157R" "0,0,1" 2979 12954 hgmd78;sw3552;spmut75;dbsnp27041;hgmd0613_1437 NP_005980;AK1D1_HUMAN;NP_005980.1 "L106F,P133R,P198L,R261C,R315C" "1,1,1,1,0" 6718 10233 hgmd790;pmd4441.1;sw4106;sws499;evn1018;dbsnp9308;hgmd0613_145 NP_000171;GUC2D_HUMAN;NP_000171.1 "A328V,A362S,A481V,A693E,C105Y,D728H,E103V,E837D,F565S,I573V,I734A,K232N,L325P,L325R,L782H,L954P,M244L,M494I,M773T,M784R,P858S,R331S,R365W,R438C,R602W,R660Q,R722W,R768W,R795Q,R838C,R838H,S1007L,S1033L,T1005I,T312M,T55M,V507M,V662I,V740L,V778I,W640L" "0,1,0,0,1,1,1,1,1,1,1,0,1,1,0,1,0,0,0,1,1,0,1,1,0,1,0,1,1,1,1,1,0,0,1,1,0,0,0,0,1" 3000 1687 hgmd791;sw1821;evn211;dbsnp25917;hgmd0613_146 NP_000172;BGLR_HUMAN;NP_000172.2 "A354V,A619V,C38G,D152G,D152N,D362N,E150K,E540K,G136R,G572D,G607A,H351Y,K350N,K606N,L176F,L243P,L255Q,L376F,L649P,N254H,N339S,P148S,P30S,P364L,P408S,P415L,R216W,R374C,R382C,R382H,R435P,R477W,R577L,R611W,S472A,S52F,S5P,T383P,V75M,W627C,Y320C,Y320S,Y495C,Y508C,Y626H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,0,0,1,1,1,1,1,1" 2990 4578 hgmd792;sw3288;evn1029;dbsnp21123;hgmd0613_1158 NP_004121;GLYG_HUMAN;NP_004121.2 "D102H,D116E,D45N,H151L,H151R,N147D,N256T,R33K,T177R,T83M,V50A,Y95C" "0,0,0,0,0,0,0,0,0,1,0,0" 2992 6630 hgmd793;dbsnp21863;hgmd0613_877 NP_002090;NP_002090.4 "E13A,E13G,E143K,E24G,E24V,G113S,L11S,L20S,T106M,T47K,T47M,T77I" "0,0,0,0,0,0,0,0,0,0,0,0" 2993 13915 hgmd794;dbsnp22166 NP_002091;NP_002091.3 "E13A,R87Q,S21R,T23S" "0,0,0,0" 2994 13915 hgmd795;sw1666;dbsnp19152 NP_002092;GLPC_HUMAN;NP_002092.1 "E50K,I71T,K124E,P20L,R82H,V61I,V79I,Y83C" "0,0,0,0,0,0,0,0" 2995 14272 hgmd796;sw3663;evn676;dbsnp3766;hgmd0613_2006 NP_068776;GYS2_HUMAN;NP_068776.2 "A193T,A339P,A94T,C100F,D415E,D669N,E518A,F685S,G141S,H446D,M363V,M491R,N39S,P479Q,P691L,Q655H,R678Q,S483P,T546A,V690F,Y174H,Y636H" "0,1,0,0,0,0,0,0,0,1,0,1,1,1,0,0,0,1,0,0,0,0" 2998 3725 hgmd797;sw1319;dbsnp14250;hgmd0613_1177 NP_004276;G6PE_HUMAN;NP_004276.2 "A212V,A388V,A448T,A448V,A505G,A664T,C393F,D151A,D445N,G227S,G306D,G351D,G468S,I6R,I6T,L680V,N484D,P335L,P554L,P722S,P775L,R218Q,R222C,R231Q,R236W,R301Q,R321H,R348H,R370Q,R437H,R453Q,R469Q,R499H,R519W,R645W,R752H,S106C,S106G,S723P,T334M,Y141C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9563 3277 hgmd798;pmd545.1;dbsnp21800;hgmd0613_1352 NP_005318;HCDH_HUMAN;NP_005318.3 "F92C,G205A,N294S,P215T,Q152H,R221H,R221L,S292F,V117L" "0,0,0,0,0,0,0,0,0" 3033 10131 hgmd799;sw3116;evn1081;dbsnp18435;hgmd0613_147 NP_000173;ECHA_HUMAN;NP_000173.2 "A197S,A270V,A726T,A739P,C322S,E510Q,I237M,I305N,I729T,K489E,L342P,N615D,P711T,R27C,V152L,V218L,V282D" "0,0,0,0,0,1,0,1,0,0,1,0,0,0,0,0,1" 3030 3491 hgmd79;sw2879;evn721;dbsnp12185;hgmd0613_800 NP_001617;AKT2_HUMAN;NP_001617.1 "E17K,G116A,I188V,R208K,R274H,R467W,T132A,T133A,T372M" "1,0,0,0,1,0,0,0,0" 208 6976 hgmd7;sw6823;sws789;evn235;dbsnp18077;hgmd0613_2385 NP_775099;ABCAC_HUMAN;NP_775099.2 "A1597V,A162V,A2533T,A741S,C2258R,D194G,D581E,E1306Q,E1539K,E2064K,E2235A,E466D,E482K,E550G,E737K,E940V,G1136D,G1179R,G1251D,G1381E,G1559V,G1651S,G2026S,G413C,G553D,G973E,I1263S,I1409V,I1494T,I1993M,I2307V,I2584V,I334V,I536V,I896N,K982T,L806W,M1161L,M215K,M680T,N1380S,N237H,N678S,P1798L,P534L,P589T,Q1976P,Q1978K,Q274R,R1417Q,R1514H,R1546C,R1741C,R1912C,R2216S,R287G,R302H,R411G,S119N,S189P,S387N,S428T,S459T,S693Y,S777F,S777T,S915F,T1980K,T2544I,T345P,V1756I,V1873I,V2070I,V381L,V542A,V880L,V880M,W1235S,W199C" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,1,0,1,1,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,1,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,1,0" 26154 215 hgmd800;sw3682;sws448;dbsnp19349;hgmd0613_148 NP_000174;ECHB_HUMAN;NP_000174.1 "A189T,A37P,A37T,D242G,D263G,G280D,G301S,G59D,I3T,K277R,L121P,M341I,P209S,P294L,P294R,Q143K,R117G,R247H,R444K,R61C,R61H,T133P,T91I" "0,0,0,1,1,1,1,1,0,0,1,0,0,1,1,0,1,1,1,1,1,1,0" 3032 7124 hgmd801;sw3172;evn792;dbsnp3980;hgmd0613_878 NP_002099;HUTH_HUMAN;NP_002099.1 "A603G,G491V,H52Q,I157T,I460L,L242M,N76D,P16L,P16T,P259L,P575L,P598L,R108W,R206T,R208L,R29Q,R322P,R369Q,R390H,R584H,S203N,S96F,T229I,V268I,V439I,V549M,W537R" "0,0,0,0,0,0,0,0,0,1,0,0,0,1,1,0,1,0,0,0,0,0,0,0,0,0,0" 3034 4506 hgmd802;sw3956;dbsnp12470;hgmd0613_1988 NP_066998;HEPC_HUMAN;NP_066998.1 "C70R,C78Y,G71D,R59G,T31M" "1,1,1,1,0" 57817 14802 hgmd803;evn731;dbsnp24188;hgmd0613_1272 NP_004812;NP_004812.1 "A169V,P189L,Q183H,R173L,T70A" "0,0,0,0,0" 9421 12599 hgmd804;sw284;evn932;dbsnp13479;hgmd0613_1458 NP_006109;HAX1_HUMAN;NP_006109.2 "D34E,F141L,F61C,F61S,L130R,N89D,P49S,P54A,R235Q,S151G,S278P,V172I" "0,1,0,0,1,0,0,0,0,0,0,1" 10456 11288 hgmd805;hgmd806;dbsnp7409;dbsnp8024;sw3895;pmd2079.1;hgmd0613_423;hgmd0613_457 NP_000549;NP_000508;HBA_HUMAN;NP_000549.1;NP_000508.1 "A116D,A124T,A131D,A14P,A20D,A20E,A22D,A27E,A64D,A6D,A6P,A72E,A72V,A80G,A83D,D127V,D127Y,D48A,D48G,D48Y,D65Y,D75A,D76A,D76H,D7A,D7N,D7V,D86Y,E117A,E117Q,E28G,E31K,G19D,G23D,G52D,G58R,G60V,H113D,H21R,H46Q,H46R,H51R,H59Y,H73Q,H88N,H88R,K128N,K128T,K12E,K140T,K17M,K41M,K57R,K57T,K61N,K62T,K91M,L114H,L35R,L3R,L81R,L87R,L92P,M77K,M77T,N10T,P115L,P115R,P115S,P45L,P45R,P78R,P96A,P96T,Q55R,R142G,R142H,R142P,R142S,S125P,S132F,S134G,S134N,S139P,S82C,S85R,T42S,V11F,V122M,V136E,V2E,Y25H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3039 14042 hgmd807;pmd760.1;pmd761.1;pmd1345.1;pmd1535.1;pmd1536.1;pmd1537.1;pmd1606.1;pmd1607.1;pmd2081.2;pmd2398.1;pmd2786.1;pmd2788.1;pmd2899.2;pmd3035.1;pmd3036.1;pmd3038.1;pmd3039.1;pmd3569.1;pmd3571.1;pmd4385.1;pmd4387.1;pmd4388.1;pmd4389.1;pmd4390.1;sw3892;dbsnp1258;hgmd0613_424 NP_000509;HBB_HUMAN;NP_000509.1 "A116D,A116P,A130D,A130V,A136E,A139V,A14D,A28S,A28V,A71D,A77V,C113R,C94Y,D22Y,D48A,D48G,D48Y,D53A,D53H,D74G,D74V,D80Y,E102D,E122G,E23A,E23G,E23Q,E27K,E27V,E7A,E7G,E7V,E8K,E91D,F123I,F123L,F123V,G108R,G25D,G25R,G25V,G26R,G47R,G57R,G70D,G70R,G70S,G75R,G75S,G75V,G84C,G84R,H117L,H117P,H117Q,H117R,H144L,H144Q,H144R,H3L,H3Q,H78Q,H78R,K121E,K121I,K121N,K121Q,K133Q,K145E,K145M,K145N,K18E,K18N,K18Q,K60N,K62E,K62N,K66M,K66N,K83M,K83N,K96N,K9E,K9Q,L111P,L115M,L115P,L142V,L79R,L82V,M1V,N109S,N140K,N140S,N20D,N20S,N58K,N58S,N58T,N81K,N81S,P125S,P52S,Q132E,Q132K,Q40E,Q40K,R31G,R41S,S73R,T51K,T85I,T88I,T88P,V114L,V127A,V135E,V2E,V2G,V34L,V34M,V35D,V35L,V61L,V68A,V68D,V99L,V99M,W16G,W38C,W38G" "1,1,0,1,0,0,0,1,0,1,0,1,0,0,0,0,0,0,0,0,0,0,1,0,1,0,1,1,0,1,0,1,0,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,1,0,0,1,1,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,1,0,0,0,1,0,0,1,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,1,1,0,0,1,0,0,0,0,1,1,0,0,0,0,1,0,1,0" 3043 13966 hgmd808;sw1553;evn1093;dbsnp2633;hgmd0613_425 NP_000510;HBD_HUMAN;NP_000510.1 "A11D,A143D,A23E,A28S,D48V,E122V,E44K,E91V,F86S,G137D,G25D,G70R,G84D,K60N,K9E,L142P,L89V,M127V,N58K,P37H,P52R,Q126E,R105S,R117C,T5S,V12G,V134A,V21E,V2A" "0,1,0,1,0,0,0,0,1,0,0,0,0,1,0,1,1,0,1,1,0,0,1,1,1,1,0,0,0" 3045 13966 hgmd80;pmd368.1;pmd2510.2;pmd3022.1;pmd3324.1;pmd3325.1;pmd3326.1;pmd3327.1;pmd3328.2;pmd3329.1;pmd3330.1;pmd3331.2;pmd3332.3;pmd3333.1;pmd3334.2;pmd3335.1;pmd3336.1;pmd3337.1;pmd3797.2;sw2533;dbsnp30234;hgmd0613_16 NP_000023;HEM0_HUMAN;NP_000023.2 "A401V,A66V,D159Y,D190V,D263N,E242K,F165L,I125V,I476N,K156E,M426V,P339L,P520L,R170H,R204Q,R218H,R375C,R411C,R411H,R448Q,R452C,R452G,R452H,R479Q,R560H,R572H,T388S,Y199H,Y586F" "0,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0" 212 4700 hgmd810;sw3894;evn499;dbsnp2718;hgmd0613_149 NP_000175;HBG2_HUMAN;NP_000175.1 "D23G,D23V,D81N,D8N,D95N,E102K,E122K,E126A,E22K,E22Q,E27K,E6G,F119L,G17R,G26E,G2C,G73R,H147Y,H64L,H78R,I76V,K105R,K121Q,K18N,K60E,K66N,K67Q,K67R,K9E,K9Q,M56R,R41G,R41K,S45R,T13R,V35I,V68M,W131G,W16R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 3048 13966 hgmd811;sw3618;evn514;dbsnp29731;dbsnp29732;dbsnp29733;hgmd0613_1353 NP_005324;CCHL_HUMAN;NP_001116080.1;NP_005324.3;NP_001165462.1 "A72V,G2D,I215V,N38S,R217C" "0,0,0,0,1" 3052 11516 hgmd812;sw11850;dbsnp6843;hgmd0613_1375 NP_005468;HCN4_HUMAN;NP_005468.1 "A485V,A756T,D553N,P1001H,Q737R,R1154Q,R1196H,S568T,S672R,V759I" "1,0,1,0,0,0,0,0,1,0" 10021 1410 hgmd813;sw726;hgmd0613_784 NP_001515;OREX_HUMAN L16R 1 3060 14226 hgmd814;sw727;evn424;dbsnp13695 NP_001516;OX1R_HUMAN;NP_001516.2 "F239L,G167S,G16A,I175V,L380P,R197W,R279Q,R281H,V23A,V323A,V93I" "0,0,0,0,0,0,0,0,0,0,0" 3061 7686 hgmd815;sw728;evn922;dbsnp24850;hgmd0613_785 NP_001517;OX2R_HUMAN;NP_001517.2 "C193S,D211E,G60A,I176T,I293V,I308V,L29F,L407F,M286I,P10S,P11T,T401I,T431K" "0,0,0,0,0,0,0,0,0,1,1,0,0" 3062 7686 hgmd816;sw9859;hgmd0613_2173 NP_115969;HES7_HUMAN "D186Y,I58V,R25W" "1,1,1" 84667 12430 hgmd817;pmd756.2;pmd4050.2;pmd4051.1;pmd4052.1;pmd4053.1;pmd4054.1;pmd4055.1;pmd4056.2;sw11272;dbsnp20813;hgmd0613_1121 NP_003856;HESX1_HUMAN;NP_003856.1 "E149K,I26T,Q6H,R160C,S170L,T181A,V129I" "1,1,1,1,1,1,0" 8820 13256 hgmd818;sw1748;spmut863;evn1072;dbsnp6518;hgmd0613_426 NP_000511;HEXA_HUMAN;NP_000511.2 "A410V,A479T,C458Y,D258H,D314V,E482K,E506D,F211S,F30I,G250D,G250S,G269D,G269S,G454S,G455R,H204R,I335F,I436V,K197T,L127F,L127R,L39R,L484Q,M301R,N196S,N295S,N399D,P25S,R166G,R170Q,R170W,R178C,R178H,R178L,R247W,R249W,R252H,R252L,R499C,R499H,R504C,R504H,S210F,S226F,S279C,S279P,S293I,V192L,V200M,V391M,W474C,W485R,Y180H,Y497C" "0,0,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1" 3073 5750 hgmd819;pmd479.1;pmd1284.1;pmd1778.1;pmd2181.1;pmd2217.1;pmd2680.1;pmd3322.1;pmd3792.1;pmd3793.1;pmd3794.2;pmd3795.1;sw1787;dbsnp23591;hgmd0613_427 NP_000512;HEXB_HUMAN;NP_000512.1 "A543T,C309Y,C534Y,I420V,K121R,L128R,L72F,P308A,P417L,P504S,Q479H,R505Q,S255R,T150N,V239I,Y456S" "1,1,1,0,0,0,0,0,1,1,0,1,1,0,0,1" 3074 5750 hgmd81;pmd39.1;pmd579.1;pmd1556.1;pmd1557.1;pmd2238.1;pmd2518.1;pmd2519.1;sw1588;dbsnp22006;hgmd0613_387 NP_000468;ALBU_HUMAN;NP_000468.1 "A215T,A215V,A218G,A387S,D207E,D338G,D518N,D87N,E121G,E177D,E420K,F73Y,H27Q,K383N,K490E,K598N,L90P,M353T,N342K,Q220L,R242H,R242P,T551I,V146E,V557M,Y108C" "0,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0,1,0,0,0,1,1,0,1,1,0" 213 5026 hgmd820;evn616;dbsnp28050 NP_036390;NP_036390.3 "D114N,F271L,G205A,P224S,P239S,T285M,V183A" "0,0,0,0,0,0,0" 23462 9967 hgmd821;pmd757.1;pmd758.1;sw5177;dbsnp24600;hgmd0613_339 NP_000401;HFE_HUMAN;NP_000401.1 "A162S,A176V,E168Q,E277K,G43D,G93R,H63D,I105T,K166E,M35T,Q127H,Q283P,R224G,R224Q,R224W,R23H,R330M,R347H,R66C,R6S,T17I,T217I,V295A,V315G,V53M,V59M" "0,1,1,0,1,1,0,1,0,0,1,1,1,1,0,0,1,0,1,1,0,0,1,0,1,1" 3077 9697 hgmd822;sw6483;evn487;dbsnp14313 NP_998818;RGMC_HUMAN;NP_998818.1 "A168D,A310G,C321W,C80R,D172E,E302K,E382A,F170S,G163A,G250V,G320V,G99R,I222N,L101P,P270S,Q228K,R288W,R329Q,S205R,S85P,W191C" "1,0,1,1,1,0,0,1,0,1,1,1,1,1,0,0,1,0,1,1,1" 148738 8011 hgmd823;sw8672;evn99;dbsnp20345;hgmd0613_152 NP_000178;HGD_HUMAN;NP_000178.2 "A122D,A48S,D153G,D291E,D376E,E168K,E42A,E87A,F227S,G161R,G270R,H371R,I216T,L25P,M368V,P230S,P230T,Q80H,R225H,R307C,R330S,S189I,V239A,V300G,V384A,W60G,W97G,Y62C" "1,0,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,0,1,0,1,1,0,1,0,1,1,1" 3081 7662 hgmd824;dbsnp28199;hgmd0613_2338 NP_689632;NP_689632.2 "G565R,I110V,K629Q,S242R,S318N" "0,0,0,0,0" 138050 4445 hgmd825;sw6050;evn529;dbsnp18041;hgmd0613_1683 NP_055177;HIBCH_HUMAN;NP_055177.2 "C163S,D266N,E245D,M1T,T46A,Y122C" "0,0,0,0,0,1" 26275 8870 hgmd826;pmd3572.1;pmd3573.2;pmd3732.1;pmd3820.1;pmd4058.1;pmd4059.1;pmd4395.1;pmd4396.2;sw2396;evn572;dbsnp1156;hgmd0613_153 NP_000179;HXK1_HUMAN;NP_000179.2 "A392T,H631N,I167V,L529S,L776M,M695T,Q607K,T12P,T671S,T680S,T775P,V508A,V634A" "0,0,0,1,0,0,0,0,0,1,0,0,0" 3098 2477 hgmd827;pmd4397.1;sw3590;evn574;dbsnp18438;hgmd0613_154 NP_000180;HXK2_HUMAN;NP_000180.2 "A187T,A314P,A387S,A836T,D465H,D881N,E106K,G321A,G321E,G332S,G437D,H476P,I410V,I562V,L148F,P520L,P736L,Q142H,Q564R,R190W,R274C,R426C,R432W,R497Q,R691C,R722C,R801Q,S506I,T331I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 3099 2477 hgmd828;sw1653;dbsnp24409 NP_002107;1A03_HUMAN;NP_002107.3 "A182V,D101N,D126H,D185E,E176V,E87D,F133L,G131W,G186A,G199R,H216Y,I121M,I121R,I166T,L180Q,M4V,M69K,N151K,N90K,Q248H,Q56L,Q94H,R155H,R155P,R169H,R205H,R333K,R89G,S129P,T187P,T97I,V255M,W191G,W191R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3105 7735 hgmd829;pmd272.1;pmd273.2;pmd274.3;pmd3604.1;sw1544;dbsnp24411 NP_005505;1B07_HUMAN;NP_005505.2 "A173T,A235T,A329T,A65T,C349S,C349Y,D138H,D138N,D98Y,E176A,E176V,E187A,E187G,E187K,E187L,E187Q,E187V,H137Y,L17V,L2R,M4T,N87D,N87K,R155S,R180D,R86P,R86Q,S101N,S121R,S345Y,S35A,S37A,S37T,S48A,S48P,S48T,T167S,T97A,V306I,V36M,V9L,Y195H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3106 7735 hgmd82;pmd488.2;pmd489.3;pmd490.1;sw3669;evn686;dbsnp342;hgmd0613_988 NP_002851;P5CS_HUMAN;NP_002851.2 "D703N,E413K,F27S,G439S,H30Y,H517Q,H784Y,I789V,K22Q,R84Q,S372Y,S65G,S65I,S779G,T299I" "0,0,0,0,0,0,1,0,0,1,0,0,0,0,0" 5832 3246 hgmd830;sw1990;dbsnp24402 NP_002108;1C07_HUMAN;NP_002108.4 "A176T,A182T,A182V,A235T,A24T,A313S,A330V,A348V,A35P,A35S,A73E,A73G,A8T,A97T,C25G,C25S,C333F,C333R,C333S,C333Y,C350S,D114A,D138H,D138N,D33A,D33G,D33H,D33V,D33Y,E190D,E197K,E201D,E201K,E207D,E253Q,E299G,E299K,E43K,G115R,G136R,G16A,G16V,G199R,G40S,I308N,K90N,L10I,L119F,L119I,L119P,L119R,L127V,L133F,L171W,L180D,L180V,L218I,L218V,L294F,L294R,L315P,M285I,M309L,M309V,M331I,M331K,M331V,M332I,N104K,P208H,P208L,P208R,P217L,P217R,P304S,P67A,P67S,Q277E,Q277K,R121K,R121S,R121T,R121W,R169L,R194G,R243W,R30K,R30M,R38W,R41G,R41S,R45H,R59P,R59Q,R7Q,S101I,S101N,S101T,S123C,S123F,S123Y,S140A,S140F,S140Y,S48A,S48P,S48T,T118I,T118N,T162N,T162S,T167P,T167S,T187L,T20I,T329A,T329P,T329S,T363A,V272M,V319A,V327M,V328I,V36L,V36M,V76M,W191G,W191S,Y137H,Y195H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3107 7735 hgmd831;sw3472;sws411;evn378;dbsnp17115;dbsnp17116;dbsnp17117;hgmd0613_340 NP_000402;BPL1_HUMAN;NP_000402.3;NP_001229713.1;NP_001229714.1 "D23N,D571N,D615Y,D634N,D634Y,D691N,D715G,E279K,E558K,G510R,G518E,G581S,G582R,G78D,H264Q,K74T,L216R,L237P,L373F,L470S,N511K,P630S,Q345K,R183P,R183W,R290M,R297Q,R302S,R324H,R360S,R457H,R508W,R725Q,T158M,T462I,V142I,V317L,V333E,V363D,V497A,V547G,V550M,V641M,V668I,V96I,Y236C,Y456C" "0,1,1,1,1,0,1,0,0,0,1,1,1,0,0,0,1,1,0,1,1,0,0,1,0,0,0,0,0,1,0,1,0,0,1,0,0,1,1,0,1,1,0,0,0,0,1" 3141 3817 hgmd832;pmd1351.1;sw1833;evn919;dbsnp2687;hgmd0613_155 NP_000181;HEM3_HUMAN;NP_000181.2 "A11T,A122G,A219D,A252T,A252V,A270D,A270G,A31P,A31T,A55S,C247F,C247R,C261Y,D178N,D359N,D61N,D61Y,D99G,D99H,D99N,E209K,E223K,E250A,E250K,E250Q,E250V,E293D,E80G,E86V,G111R,G216D,G236S,G24S,G260D,G274R,G280R,G335D,G335S,H256N,H256Y,I113T,K98R,L177R,L238R,L244P,L245R,L254P,L278P,L343P,L42S,L81P,L85R,L92P,M18I,M212V,P119L,P159S,Q217H,Q217L,Q34K,Q34P,Q34R,R116Q,R116W,R149L,R149Q,R167Q,R167W,R173Q,R173W,R195C,R201W,R225G,R225Q,R22C,R246C,R26C,R26H,R321H,S28N,S45L,S96F,T269I,T35M,T78P,V124D,V202L,V222M,V267M,V90G,V93F" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1" 3145 9378 hgmd833;sw9381;evn588;dbsnp14256;hgmd0613_2149 NP_114141;HMCN1_HUMAN;NP_114141.2 "A1060T,A1247V,A1624V,A1666S,A2382V,A3270P,A3736T,A3969T,A4414V,A4704V,A4720T,A487E,D1505E,D3174E,D3460E,D4322V,D5087V,D5440N,E1285A,E1568A,E2893G,E3511G,E494K,E722K,G1320D,G2781D,G2939S,G3441R,G3566D,G3685A,G4025D,G4726D,H2331R,H2558D,H3216L,H382D,H4084Y,H5244Q,I1454V,I1975V,I2096N,I2258V,I2303T,I2418T,I2930T,I3744K,I3935V,I5071R,I5255T,I631V,I824V,I993T,K2559N,K4352R,K579T,L1961F,L2551S,L2818M,L3355S,L3671V,M1700L,M2327I,M3229T,M721T,N1007I,N1786D,N1799D,N262S,N3300S,N3681S,N4696H,P1388S,P2714A,P2714T,P3545S,P3712S,Q1884L,Q3492K,Q4437R,Q4607R,Q4650H,Q5345R,Q5462R,R1420K,R1469C,R146Q,R1572Q,R1804W,R1959C,R2156G,R2837W,R3131K,R3201H,R3343G,R3629Q,R3635W,R3661P,R3793C,R4779Q,R4917H,R5172H,R5176H,R5374Q,R5509Q,R5606S,R5608Q,R922H,S1025G,S1145N,S1591N,S1701N,S1716T,S3466I,S4082N,S425N,S4438N,S4983A,S5120T,T1056A,T1232M,T1274P,T1409I,T1480I,T1647M,T2498M,T2504K,T3034I,T3164M,T3358N,T3778I,T4217A,T4443S,T490I,T4913N,T5004I,T5004S,T512I,T9I,V1184F,V2121M,V233A,V289M,V3540I,V3980M,V4191I,V4314A,V4488M,V4847I,V5431I,V707F,Y2941D,Y5037H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83872 15 hgmd834;pmd3475.1;pmd3968.2;sw3030;spmut892;evn43;dbsnp15802;hgmd0613_156 NP_000182;HMGCL_HUMAN;NP_000182.2 "C174Y,D204N,D42E,D42G,D42H,D61G,E279K,E37K,F192S,G203E,H233R,I200F,I60V,K48N,L263P,R165Q,R41Q,S142F,S201Y,S75R,V51I,V70L" "1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1" 3155 11830 hgmd835;sw3668;evn833;dbsnp12820;hgmd0613_1381 NP_005509;HMCS2_HUMAN;NP_005509.1 "D196H,F174L,G212R,M298I,P289H,R116H,R500H,R92H,S375C,S385T,S398F,V238A,V508I,V54M,Y167C" "0,1,1,0,0,0,1,0,0,0,0,0,0,1,1" 3158 6290 hgmd836;pmd421.1;sw2458;sws269;spmut895;dbsnp3560;hgmd0613_446 NP_000536;HNF1A_HUMAN;NP_000536.5 "A161T,A98V,C241G,E132K,E48K,E619K,G191D,G20R,G319S,G31D,G415R,G52A,G574S,H143Y,H514R,I128N,I27L,I618M,K117E,K158N,K205Q,L107R,L12H,L254M,L389V,N237S,P129T,P291S,P447L,P519L,R114H,R131Q,R131W,R159Q,R159W,R200W,R203C,R203H,R229Q,R263C,R271W,R272C,R272H,R583G,R583Q,S142F,S432C,S487N,S594I,T196A,T260M,T537R,T620I,V133M,V259D,V380D,Y122C" "1,0,1,1,1,1,1,1,0,1,1,0,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1" 6927 4780 hgmd837;sw3018;evn1114;dbsnp9982;hgmd0613_378 NP_000449;HNF1B_HUMAN;NP_000449.1 "A241T,A514S,D82N,E260D,G285D,G370S,G492S,G76C,H153N,H214Q,I360V,K156E,K164Q,N357S,P553T,Q136E,R112P,R165H,R235Q,R276G,R276Q,R295C,R295H,R295P,S148L,S148W,S151P,S36F,S465R,S475P,T436A,V110G,V61G" "1,0,0,1,1,1,1,1,1,0,0,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1" 6928 5730 hgmd838;sw3137;spmut896;evn870;dbsnp16150 NP_000448;HNF4A_HUMAN;NP_000448.3 "I266M,N52S,P379S,V453I" "0,0,0,0" 3172 7125 hgmd839;sw2862;dbsnp26804;hgmd0613_428 NP_000513;HXA13_HUMAN;NP_000513.2 "G262S,M211I,N372H,Q371L" "0,0,1,1" 3209 8828 hgmd83;sw1163;evn1070;dbsnp6719;hgmd0613_1125 NP_003879;AL1A2_HUMAN;NP_003879.2 "A110V,A151S,A17T,E436K,E50G,F147L,G255D,I40M,P16A,Q70E,V348I,Y137C,Y503C" "0,1,0,0,0,0,0,0,0,0,0,0,0" 8854 6337 hgmd840;sw681;dbsnp27157;hgmd0613_1532 NP_006726;HXA2_HUMAN;NP_006726.1 "L336I,M196L,Q186K,S132T,V327I" "0,0,1,0,0" 3199 9063 hgmd841;sw4002;sws479;evn1051;dbsnp26472;hgmd0613_880 NP_002132;HXA4_HUMAN;NP_002132.3 "K16E,L140P,L178F,L55P,P317S,R217H,R217L,T251P,T70P" "0,0,0,0,0,0,0,0,0" 3201 10388 hgmd842;evn998;dbsnp10163;hgmd0613_1908 NP_061825;NP_061825.2 "A62T,D94E,H181Q,K105N,Q222P,Q96P" "0,0,0,0,0,0" 3216 12239 hgmd843;sw2718;evn911;dbsnp19539;hgmd0613_882 NP_002139;HXD10_HUMAN;NP_002139.2 "A126S,A185S,A192T,A41T,G207C,G207I,G44A,I124M,L333P,M319K,N202K,P204A,P204N,P204S,P210S,P93A,S206N,T211A,V128A,V205A,V205S" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 3236 9896 hgmd844;sw2984;evn962;dbsnp19157;hgmd0613_429 NP_000514;HXD13_HUMAN;NP_000514.2 "A157T,A180T,A19V,G20S,I322L,N181D,P103L,P119A,Q325R,R306W,S252A,S316C,S87W,T245A,Y206C" "0,0,0,0,1,0,0,0,1,1,0,1,0,0,0" 3239 9827 hgmd845;sw1874;evn1103;dbsnp19221;hgmd0613_1697 NP_055436;HXD4_HUMAN;NP_055436.2 "E22K,S123P,Y113C" "0,0,0" 3233 10388 hgmd846;sw1457;dbsnp7349;hgmd0613_1317 NP_005134;HPT_HUMAN;NP_005134.1 "A214V,A218D,D271N,D397H,E130K,I247T,N129D,S243P,S2T" "0,0,0,0,0,1,0,0,0" 3240 8455 hgmd847;sw2908;dbsnp3792;hgmd0613_883 NP_002141;HPPD_HUMAN;NP_002141.1 "A162P,A268V,D167N,I267F,I335M,M166I,R113Q,R55Q,S5R,V340L,Y160C" "0,1,0,0,1,0,0,0,0,0,1" 3242 8720 hgmd848;pmd2908.1;pmd4267.1;sw2224;spmut1518;evn569;dbsnp22730;hgmd0613_513 NP_000851;PGDH_HUMAN;NP_000851.2 "A140P,D212N,Q254K,S193P,T265S,V145I,V176M,Y217C" "1,0,0,1,0,0,0,0" 3248 11557 hgmd849;pmd165.2;pmd4060.1;pmd4061.1;pmd4062.2;sw1447;spmut902;evn279;hgmd0613_159 NP_000185;HPRT_HUMAN;NP_000185.1 "A161S,A50P,A50V,C206Y,C23W,D135G,D177V,D177Y,D194E,D194N,D201G,D201N,D201Y,D20V,D52G,D80V,F199L,F199V,G16D,G16S,G58R,G70E,G71R,G7D,H204D,H204R,H61R,I132M,I132T,I183T,I42F,I42T,L131S,L41P,L78V,M143K,M54L,M57T,P176L,R45K,R48H,R51G,R51P,S104R,S110L,S162R,T168I,V130D,V188A,V189G,V53A,V53M,V8G,Y195C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1" 3251 12443 hgmd84;pmd4354.2;sw3516;evn401;dbsnp9796;hgmd0613_317 NP_000373;AL3A2_HUMAN;NP_000373.1 "A188V,C214Y,C226W,C237Y,D245N,D40G,E330G,F419S,G185A,G406R,G412R,H411Y,I126V,I146M,I45F,K266N,K326N,K447E,L106R,M328I,N386S,P114L,P121L,P315S,P424S,Q10E,R228C,R423H,S365L,S415N,T184M,T184R,T393M,T43A,T43M,V64D,Y279N" "0,1,1,1,1,0,0,1,1,1,1,1,0,0,1,1,0,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,0,0,0,1,1" 224 6518 hgmd850;sw8633;evn590;dbsnp228;hgmd0613_160 NP_000186;HPS1_HUMAN;NP_000186.2 "A186V,A480T,D309G,D633N,E100D,E248K,E9D,G283A,G283R,G283W,G639S,G643E,L5F,P41L,P491R,Q20E,Q422R,Q469R,Q563E,Q603R,R160W,R260Q,R263W,R27Q,R511Q,S227G,S227I,V4A,V630I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3257 4071 hgmd851;sw8684;sws982;evn1111;dbsnp21083;hgmd0613_2162 NP_115759;HPS3_HUMAN;NP_115759.2 "E275K,E603Q,G739R,I456V,P1002S,P225S,R296H,R397W,S334P,S673L,T379M,V191I,V198I,V497M,V504I,V793A" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 84343 2091 hgmd852;sw10662;dbsnp17369;hgmd0613_2016 NP_071364;HPS4_HUMAN;NP_071364.4 "A237V,A408T,A567V,C515R,E229G,E583K,H235R,H606Y,I84V,L443V,L46P,N149D,Q625H,R107L,R107Q,R466C,R466H,R628H,S186L,S354C,S354T,T251S,T308A,T656S,V552M,V64I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89781 3991 hgmd853;sw11671;evn116;dbsnp2242;hgmd0613_2432 NP_852608;HPS5_HUMAN;NP_852608.1 "A1105S,A2T,A728T,A81T,C724R,E1016K,F871Y,G501R,G525D,I77V,K590T,K813R,L340F,L417M,L492Q,L624R,M1015I,M1073L,M1073V,M115I,P842L,R435G,R734Q,S602N,S712R,S801N,V537L,V542D,V841F,Y956H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11234 1630 hgmd854;evn619;dbsnp894;hgmd0613_2087 NP_079023;NP_079023.2 "D763G,H354Y,L233R,L292V,L426M,P49H,P593L,Q278H,R232Q,R463Q,S314F,S449C,V108L,V26L,V347I,V93L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79803 3403 hgmd855;sw722;sws82;dbsnp27750;hgmd0613_1318 NP_005135;HAIR_HUMAN;NP_005135.2 "A352V,A503T,A576V,C397Y,D1012N,E530K,E591G,E636G,E760K,G337D,G339C,G339R,G702W,G823S,L490R,L526P,L558M,L97M,P283S,P319L,P40L,P426S,P432S,P62T,P63R,P69S,P785L,P924L,Q528R,R324W,R620Q,R998W,S911R,T13A,T888R,V1136D,V449G" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 55806 1450 hgmd856;pmd323.2;pmd738.1;pmd1111.1;pmd1465.1;pmd1466.1;pmd1467.2;pmd1468.1;pmd1469.1;pmd1470.1;pmd1471.1;pmd1472.1;pmd1483.1;pmd1484.1;pmd1485.1;pmd1486.1;pmd1487.1;pmd1530.1;pmd1531.1;pmd1532.1;pmd1533.1;pmd1534.2;pmd1781.1;pmd1782.1;pmd1783.1;pmd1784.1;pmd1804.1;pmd1805.1;pmd1905.1;pmd2187.1;pmd2188.1;pmd2189.1;pmd2211.1;pmd2222.1;pmd2358.1;pmd2380.1;pmd2381.1;pmd2382.2;pmd2688.1;pmd2689.1;pmd2695.2;pmd2890.1;pmd3353.1;pmd3354.1;pmd3355.1;pmd3358.1;pmd3360.1;pmd3617.1;sw1489;sws157;spmut1712;evn1035;hgmd0613_1355 NP_005334;RASH_HUMAN;NP_001123914.1 "A122T,A122V,A146T,A146V,E63K,G12A,G12C,G12D,G12E,G12S,G12V,G138S,G13C,G13D,K117R,Q150H,Q22K,Q61L,T58I" "0,0,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1" 3265 12566 hgmd857;sw1639;dbsnp19923;hgmd0613_341 NP_000403;HRG_HUMAN;NP_000403.1 "A56V,C241R,D118G,D140V,E181Q,E294A,G103E,G436R,H288L,H340R,I180T,N493I,P204S,P234L,P257L,P318S,P321L,P351T,P421A,R201W,R42Q,R43W,R448C,R448H,R460Q,R52Q,S79L,S79W,V200L,Y46H" "0,1,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3273 6203 hgmd858;pmd542.2;sw3951;spmut504;evn432;dbsnp7976;hgmd0613_161 NP_000187;DHI2_HUMAN;NP_000187.3 "A237V,A328V,A389T,C48G,D223N,D244N,D323V,L179R,L250R,L395P,N171S,P227L,R147H,R147S,R186C,R208C,R208H,R213C,R279C,R333Q,R337C,R374Q,S104A,S180F,S258N,S316F,V273M,W12R,Y338H" "1,1,0,0,1,1,0,1,1,0,0,1,0,0,1,1,1,1,1,0,1,0,0,1,0,0,0,0,1" 3291 8486 hgmd859;sw9503;evn4;dbsnp30228;hgmd0613_1214 NP_004484;HCD2_HUMAN;NP_004484.1 "C214R,L122V,N247S,P230S,R130C,S98T" "0,1,1,0,1,0" 3028 11665 hgmd85;sw2768;evn659;dbsnp13622;dbsnp13623;hgmd0613_1106 NP_003739;AL4A1_HUMAN;NP_003739.2;NP_733844.1 "A145T,C421R,E277K,F388L,G366R,H358R,K462T,M61T,P138L,P16L,P289L,P544L,R139S,S352L,T195M,T473A,T528N,V470I,V489I,V82M" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 8659 5627 hgmd860;pmd759.2;pmd1355.1;pmd3965.2;sw3060;dbsnp28604;hgmd0613_162 NP_000188;DHB3_HUMAN;NP_000188.1 "A203V,A207T,A56T,C268Y,E215D,F208I,G289C,G289R,G55E,I102F,M235V,N130S,P282L,Q176P,R45W,R80Q,R80W,S232L,S65L,T245P,V205E,V31I" "1,0,1,1,1,1,0,0,0,0,1,1,1,1,0,1,1,1,1,0,1,0" 3293 10646 hgmd861;pmd247.1;sw3519;spmut501;evn543;dbsnp22902;hgmd0613_342 NP_000405;DHB4_HUMAN;NP_000405.1 "A427V,A491T,A54V,A606S,E228D,F626L,F90L,G16S,G421E,G610D,G620E,I559V,K140N,K557M,K681E,L622F,M728V,N457Y,P4R,R106H,R106P,R125W,T292S,T317M,T687I,W511R,Y217C" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,1" 3295 3513 hgmd862;pmd11.2;pmd12.2;pmd1358.2;pmd3422.1;pmd3423.1;pmd3424.1;pmd4269.2;sw2657;dbsnp12858;dbsnp12859;hgmd0613_163 NP_000189;3BHS2_HUMAN;NP_000189.1;NP_001159592.1 "A10E,A10V,A167V,A245P,A82T,D74N,E142K,E44D,E94Q,G129R,G15D,G294V,G2V,I270T,K216E,L108W,L173R,L205P,L6F,N100S,P155L,P186L,P222H,P222Q,P222T,P341L,R316C,S213G,S213T,T259M,T259R,V19A,Y253N,Y254D" "1,1,1,1,1,0,1,0,0,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1" 3284 9131 hgmd863;sw10177;dbsnp7852;hgmd0613_2107 NP_079469;3BHS7_HUMAN;NP_079469.2 "A286T,A364T,E147K,G19S,L347P,R110Q,R310Q,R35G,T250A,V284G" "0,0,1,1,0,0,0,0,0,0" 80270 9210 hgmd864;evn820;dbsnp8031;hgmd0613_786 NP_001529;NP_001529.2 "A362I,G261E,G335S,I254L,M212I,R53S,T227N" "0,0,0,0,0,0,0" 3299 6814 hgmd865;pmd762.1;sw1660;evn1032;dbsnp26690;hgmd0613_787 NP_001531;HSPB1_HUMAN;NP_001531.1 "A173V,L109R,P182L,R127W,R136W,S135F,T151I,T164A" "0,0,1,1,1,1,1,1" 3315 12846 hgmd866;sw4379;dbsnp23826;hgmd0613_1489 NP_006299;HSPB3_HUMAN;NP_006299.1 "E91K,G67S,K119E,R116P,R116Q,R15C,R7S,V77M" "0,0,0,0,0,0,1,0" 8988 13916 hgmd867;evn395;dbsnp12655;hgmd0613_2302 NP_653218;NP_653218.1 "A151T,G94S,V92A" "0,0,0" 126393 13712 hgmd868;sw11443;sws1281;dbsnp4422;hgmd0613_1685 NP_055180;HSPB8_HUMAN;NP_055180.1 "E167K,E179Q,K141E,P89R,Q5R,R78M" "0,0,1,0,0,0" 26353 13048 hgmd869;sw2014;evn678;dbsnp18972;dbsnp18973;hgmd0613_884 NP_002147;CH60_HUMAN;NP_002147.2;NP_955472.1 "A365V,A507V,D29G,E515D,G563A,G563R,G569R,G570S,I254V,L291V,L332I,L334V,L438W,L46F,N184S,Q366K,R142K,V98I" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 3329 5513 hgmd86;sw3517;spmut2034;evn264;dbsnp24860;hgmd0613_623 NP_001071;SSDH_HUMAN;NP_001071.1 "A237S,A296T,A404G,C223Y,C93F,D450N,D474A,G176R,G268E,G36R,G409D,G533R,H180Y,I195V,L44V,N255S,N335K,P182L,P382L,P382Q,Q395R,R50G,S245R,T202I,T233M,T439I,V321M,V400I,V406I,V487E,V492I,Y471S" "0,0,0,1,1,0,0,1,1,0,1,1,0,0,0,1,1,0,1,1,0,0,0,0,1,0,0,0,0,1,0,0" 7915 5877 hgmd870;sw3985;spmut1517;dbsnp13171;hgmd0613_1383 NP_005520;PGBM_HUMAN;NP_005520.4 "A1098T,A1236E,A1236G,A1503V,A1524V,A1766V,A2181T,A2274T,A2496T,A2654T,A2856T,A2869P,A291S,A2967T,A3168T,A3240V,A3301V,A3943T,A4071V,A4328T,A4382D,A680T,A821V,C1532Y,C381Y,D3698N,D4104E,D4310A,D68E,E113K,E1378K,E1621K,E2811K,E3314K,E3509K,E4292K,E95Q,E966K,F1497I,G1230R,G1230S,G1412S,G1558S,G172S,G2099S,G2137S,G2225S,G2270R,G2366R,G2475R,G2752R,G2950R,G306R,G3098S,G3537R,G4194R,G4345R,G866S,G909S,H2273Q,H3256Y,H3420Q,H509Y,H50L,H592R,H779Y,I2038M,I3264V,L1323V,L2980H,L303H,L3349V,L3389F,M263I,M638V,N233S,N765S,N786S,N957H,P1019L,P1534R,P2785L,P520S,Q3188H,Q653H,R1066W,R1090Q,R1186Q,R1523H,R1626H,R1637H,R1758Q,R1919C,R1919H,R2001W,R2004H,R2312Q,R2344H,R2377H,R2504H,R257P,R2682W,R2763H,R2777Q,R2794Q,R2870Q,R2968Q,R2977W,R3159Q,R3427Q,R3530W,R3632L,R3632P,R3632Q,R3646H,R3693W,R3736W,R3849P,R3849Q,R3906Q,R4015H,R4037L,R4074C,R4086Q,R4086W,R413Q,R420Q,R4281H,R615H,R643H,R675Q,R751W,R850H,R878H,S2412N,S2446L,S253C,S2623P,S2719N,S2835Y,S2995C,S2995G,S2995R,S3765N,S398R,S4331N,T1606M,T1639M,T2184M,T2322M,T2373M,T2511I,T2859M,T3405M,T361N,T563M,V1283I,V1967I,V249M,V2615I,V2849L,V2981I,V3402L,V3500M,V3568I,V3640I,V3980M,V4332I,V4340M,V529M,V670I,V692M,V776M,Y610C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3339 58 hgmd871;sw2229;spmut884;dbsnp21837 NP_000191;HIS3_HUMAN;NP_000191.1 "G42R,K30R" "0,0" 3347 14922 hgmd872;pmd2401.1;sw2703;evn385;dbsnp24303 NP_000854;5HT1B_HUMAN;NP_000854.1 "A9T,E374K,F124S,F219L,I367V,K164T,S45A" "0,0,0,0,0,0,0" 3351 8790 hgmd873;sw2704;spmut6;evn328;dbsnp4898 NP_000612;5HT2A_HUMAN;NP_000612.1 "A447V,D23E,E302D,E455D,H452Y,S421F,T25N,V357I" "0,0,0,0,0,0,0,0" 3356 7176 hgmd874;sw2946;evn702;dbsnp822 NP_062873;5HT7R_HUMAN;NP_062873.1 "P448Q,P448R,T92K" "0,0,0" 3363 7017 hgmd875;sw8585;spmut916;evn825;dbsnp1074;hgmd0613_982 NP_002766;HTRA1_HUMAN;NP_002766.1 "A113S,A252T,A35T,D39E,Q259E,R227W,R26Q,S115N,T365M,V297M,V451I" "0,1,0,0,0,0,0,0,0,1,0" 5654 6998 hgmd876;sw694;spmut917;evn47;dbsnp18938;hgmd0613_1639 NP_037379;HTRA2_HUMAN;NP_037379.1 "A141S,E418G,G399S,G42E,L72P,P281S,P68L,P68S,R404W,S137G,S62C,T66P" "0,0,1,0,0,0,0,0,1,0,0,0" 27429 7428 hgmd877;evn28 NP_009296;NM_007312 "A426G,R401Q,R431Q" "0,0,0" - 7849 hgmd878;sw9151;evn383;dbsnp1529;dbsnp1530;hgmd0613_2311 NP_659451;HYLS1_HUMAN;NP_001128265.1;NP_659451.1 "A63T,C31R,D211G,F217C,K91N,Q139H,S164A" "0,0,1,0,0,0,0" 219844 10873 hgmd879;sw2021;spmut932;dbsnp3603;hgmd0613_343 NP_000406;IAPP_HUMAN;NP_000406.1 "N36Y,S53G" "0,1" 3375 14759 hgmd87;sw4080;evn34;dbsnp6134;hgmd0613_1397 NP_005580;MMSA_HUMAN;NP_005580.1 "A353T,G446R,H339R,M1V,N65S,P252L,R488P,S51P,V49I" "0,1,0,0,0,0,0,0,0" 4329 6051 hgmd880;sw2499;dbsnp21807 NP_004958;SIAL_HUMAN;NP_004958.2 "A268V,D213G,E270D,E68K,G287E,H48Y,Q303R,R219G,T256A" "0,0,0,0,0,0,0,0,0" 3381 10462 hgmd881;sw4745;dbsnp12182 NP_001535;ICAM4_HUMAN;NP_001535.1 "F48L,K63R,V208L" "0,0,0" 3386 11443 hgmd882;sw4285;dbsnp23507;hgmd0613_657 NP_001092757;NIPA4_HUMAN;NP_001092757.1 "A176D,G142V,G230R,G297R,H237N,R213G,S208F,S453L,V395A" "1,1,1,1,1,0,1,0,0" 348938 7276 hgmd883;sw11673;sws1316;spmut934;evn744;dbsnp24582;dbsnp24583;hgmd0613_1807 NP_057597;ICK_HUMAN;NP_055735.1;NP_057597.2 "A327T,A615T,D182E,H330Q,I24V,M568V,P509S,P98L,Q240H,R272Q,R476Q,S483C,T471K,V320I,V355I,Y316H" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 22858 4611 hgmd884;sw1098;sws120;evn926;dbsnp19194;hgmd0613_1424 NP_005887;IDHC_HUMAN;NP_005887.2 "D16H,F32V,G161R,H40Q,H67Y,I364V,M13L,Q234R,Q242R,S326P,S363C,S6G,V178I,V71I,Y183C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 3417 7550 hgmd885;sw764;evn39;dbsnp16756;hgmd0613_1551 NP_008830;IDH3B_HUMAN;NP_008830.2 "A3V,G211S,G25D,L132P,L14P,Q166H,R359Q,S173A,T360A" "0,0,0,1,0,0,0,0,0" 3420 8884 hgmd886;pmd177.1;sw2521;dbsnp30088;hgmd0613_165 NP_000193;IDS_HUMAN;NP_000193.1 "A205P,A346D,A346V,A68E,A79E,A82E,A82V,A85S,A85T,C184F,C184W,C422G,C422R,C432Y,D148H,D198G,D269V,D308E,D308N,D334G,D334N,D35G,D45N,D478G,D478Y,E125V,E341K,E434K,E521K,E521V,F155L,G134R,G140V,G224E,G336E,G336R,G340D,G94D,H138D,H159P,H229R,H229Y,H335R,H342Y,I485K,I485R,K135N,K135R,K227M,K227Q,K347I,K347Q,K347T,L102R,L182P,L196S,L221P,L259P,L314P,L339R,L403R,L410P,L41P,L73F,L92P,N115Y,N181I,N265I,N31S,N63D,P120H,P120R,P156Q,P160R,P228L,P228T,P231L,P266H,P266R,P358R,P467L,P469H,P480L,P480Q,P480R,P86L,P86Q,P86R,Q121H,Q121R,Q293H,Q465P,R313C,R468G,R468L,R468Q,R468W,R48P,R88C,R88G,R88H,R88L,R88P,R95G,R95T,S117Y,S132W,S143F,S299I,S333L,S349I,S491F,S71N,S87N,T118I,T309A,V20I,V20L,V89F,W337R,W345C,W502C,W502S,Y108C,Y108S,Y225D,Y264N,Y348H,Y362C,Y490S,Y497C,Y523C,Y54D" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1" 3423 5837 hgmd887;sw2986;dbsnp22029;hgmd0613_166 NP_000194;IDUA_HUMAN;NP_000194.2 "A300T,A327P,A361T,A436P,A591T,A75T,A79T,A79V,D315Y,D349N,D349Y,E178K,E182K,E276K,F188L,F602I,G116R,G165D,G208D,G219E,G265R,G51D,G84R,H33Q,H449N,H82P,H82Q,L218P,L237F,L238Q,L346R,L396P,L490P,L4P,L535F,M133I,M504T,N348K,N350I,N373T,P385R,P496L,P496R,P533R,Q380R,R105Q,R363C,R383H,R489P,R492P,R619G,R628P,R89Q,R89W,S260F,S423R,T103P,T366P,T388R,T99I,V172F,V172I,V279A,V322E,V454I,W306L,W626R,Y76C" "1,1,0,1,0,1,0,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,0,0,1,0,1,0,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,0,1,1,1" 3425 4551 hgmd888;sw9898;spmut945;dbsnp18369 NP_071451;IFIH1_HUMAN;NP_071451.2 "A589D,A788T,D655E,E842K,G494V,H460R,H460Y,H843R,I146V,I923V,K349R,L274I,L528R,N160D,P356T,Q955E,R186H,R374H,R77W,R820H,T520A,T575A,T702I,V366E,V929I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64135 1999 hgmd889;pmd2293.1;pmd2294.1;pmd2818.1;sw2214;evn161;dbsnp24634;hgmd0613_344 NP_000407;INGR1_HUMAN;NP_000407.1 "C77Y,H335P,I198L,I87T,L259V,T189K,V14M,V366A,V61I,Y84C" "1,0,0,1,0,0,0,0,0,0" 3459 6856 hgmd88;sw3385;evn1143;dbsnp23341;hgmd0613_725 NP_001173;AL7A1_HUMAN;NP_001173.2 "A177P,A199V,A333V,E427Q,K439Q,R469H,S19P,T222I,T412A,T523A,T68N,V185I" "0,1,0,1,0,0,0,0,0,0,0,0" 501 5997 hgmd890;sw3076;spmut971;dbsnp17047;hgmd0613_1384 NP_005525;INGR2_HUMAN;NP_005525.2 "E147K,K182E,Q64R,R206G,S260L,T168N,T58R" "0,0,0,0,0,1,0" 3460 9960 hgmd891;sw11183;evn863;dbsnp20672;hgmd0613_1965 NP_065851;IFT80_HUMAN;NP_065851.1 "A622T,A701P,D195G,D541G,G241R,H105Q,I591V,I773M,N290S,N560D,P66S,R253H,S359F,T313A,T586S,V294I,W64C" "0,1,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0" 57560 3385 hgmd892;evn501;dbsnp3845;hgmd0613_464 NP_000609;NP_000609.1 "A115T,A118T,A141T,C15W,G2E" "0,0,0,0,0" 3479 13073 hgmd893;pmd175.1;pmd176.1;pmd778.1;pmd779.1;pmd894.1;pmd1211.1;pmd1212.2;pmd1213.1;pmd1340.1;pmd2283.1;pmd3149.3;pmd3481.1;pmd3482.1;pmd3716.1;pmd3717.2;pmd3718.1;pmd3719.2;pmd3822.2;pmd4638.1;pmd4639.1;pmd4640.1;sw1807;sws188;spmut947;evn623;dbsnp6918;hgmd0613_514 NP_000866;IGF1R_HUMAN;NP_000866.1 "A1338T,A759V,A828T,E1268D,G7E,H808R,K145N,K961R,M446V,N202S,N284Y,N819K,N857S,P190S,P768L,R1246C,R1337C,R134S,R138Q,R437H,R511Q,R595H,R605H,R650Q,R659L,R659Q,R739Q,S1258A,S501W,T218A,V388M,V492I,V579I,V691L" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,1,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0" 3480 1037 hgmd894;sw3025;evn167;dbsnp7825;hgmd0613_1287 NP_004961;ALS_HUMAN;NP_004961.1 "A229T,D419G,D570N,G421S,G506R,L453V,L97F,P287L,P307L,P498S,P526L,Q563R,R548W,R63G,S87L,V72I,V89I,Y208F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3483 4668 hgmd895;pmd2157.1;pmd2204.1;pmd2813.1;pmd2814.1;pmd2815.1;pmd2816.1;sw1862;dbsnp25882 NP_000587;IBP1_HUMAN;NP_000587.1 "D153E,E218V,E244K,H114D,V183I,V184I,V9F" "0,0,0,0,0,0,0" 3484 11716 hgmd896;sw3081;dbsnp1462;hgmd0613_887 NP_002171;SMBP2_HUMAN;NP_002171.2 "A102S,A256G,A355V,A398V,A432T,A639G,A75P,A75T,A849T,C241R,D301N,D474E,D565N,D974E,E334K,E382K,E514K,E928K,G586C,G676R,G714R,H213R,H278D,H445P,I275V,I535V,K892E,L17P,L192P,L201S,L251P,L339F,L361P,L364P,L426P,L461F,L461V,L472P,L48Q,L577P,N583I,P216L,P557A,Q196R,Q51E,R147Q,R581S,R595Q,R603C,R603H,R637C,R694W,R730W,R790Q,R946Q,S121F,S945I,T221A,T493I,T671A,V580I,V647I,V726M,W386R" "0,0,0,0,0,0,0,0,0,1,0,0,1,1,1,1,1,0,1,0,0,1,0,1,0,0,0,1,1,0,1,0,1,1,1,0,0,1,0,1,1,1,0,1,0,0,1,0,1,1,1,0,0,0,0,0,0,1,1,0,1,0,0,1" 3508 2132 hgmd897;sw4707;evn949;dbsnp19399;hgmd0613_888 NP_002172;IHH_HUMAN;NP_002172.2 "A371V,D100E,D100N,E131K,E95K,H252R,K334R,L254V,L6I,P286L,P46L,R217H,V15L,V190A,V351M" "0,1,1,1,1,0,0,0,0,0,1,0,0,1,0" 3549 7356 hgmd898;sw1237;dbsnp28448;hgmd0613_1090 NP_003631;ELP1_HUMAN;NP_003631.2 "A1087T,A574V,A638V,A877T,C1072S,D455G,E1071D,E312K,G1013S,G623C,G765A,G765E,I816L,I830M,K52E,K952I,L1165F,L308P,M182K,N1290S,N437H,P1158L,R1094G,R405W,R525Q,R629H,R696P,R70C,R70H,R942Q,S251G,S68I,S96G,T1051A,T377A,T848N,V161A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 8518 1102 hgmd899;evn172 NP_001093326;NP_001093326.2 "G176S,I139M,K164R,S35G" "0,0,0,0" 8517 6880 hgmd89;pmd1828.1;pmd1829.1;pmd1830.1;sw1627;evn809;dbsnp7614;dbsnp7615;dbsnp7616;dbsnp7617;hgmd0613_18 NP_000025;ALDOA_HUMAN;NP_000025.1;NP_908932.1;NP_001121089.1;NP_908930.1 "C339Y,C73G,D129G,D196A,D68N,E207K,E82Q,G142V,G347S,H246Y,L271V,Q348H,Q4P,R22C" "1,0,1,0,0,1,0,0,1,0,0,0,0,0" 226 8215 hgmd8;sw9513;sws1069;evn289;dbsnp8027;hgmd0613_650 NP_001080;ABCA3_HUMAN;NP_001080.2 "A1166V,A1281T,A1362V,A1405T,A1405V,A275V,A2D,A501E,A631T,C125R,D882N,E1701K,E292V,F353L,G169D,G739A,G964S,H1247R,H778R,I1568V,L101P,L1402I,L1553P,L654V,L707F,M489L,M489V,N1039T,N140H,N555S,N568D,P766S,P770L,Q1591P,R1474W,R280H,R288K,R589Q,R589W,R670S,R709W,S1157I,S1262G,S872G,V1038I,V1056I,V129M" "0,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,1,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0" 21 637 hgmd900;sw2519;evn568;dbsnp15634;hgmd0613_459 NP_000563;IL10_HUMAN;NP_000563.1 "A107V,P20S,S19N" "0,0,0" 3586 13388 hgmd901;sw3184;dbsnp10893;hgmd0613_1385 NP_005526;I12R1_HUMAN;NP_005526.1 "A387V,A525T,E201A,G378R,H339Q,L258V,M365T,N442K,P232L,P34L,P37L,P3L,P3Q,P47S,R156H,R213W,R283Q,R59H,S321L,S43L,S74R,V107A,V316M,V605L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 3594 4455 hgmd902;sw9487;spmut927;evn143;dbsnp13818;hgmd0613_790 NP_001550;I12R2_HUMAN;NP_001550.1 "A396V,A625V,C723S,E146K,E319K,G391R,G420R,G420S,G465D,H720R,I176T,I185V,L808R,M13V,M330L,M373V,N271Y,N392I,Q426H,R149Q,R313G,R477P,R76G,S264N,S63F,S9P,T201I,T4A,T50S,T698M,Y336C" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 3595 2814 hgmd903;sw5779;dbsnp13505 NP_653302;IL23R_HUMAN;NP_653302.2 "A199V,G149R,I135F,L310P,Q3H,R86Q,T175N,V218G,V362I,V4A" "0,0,0,0,0,0,0,0,0,0" 149233 4805 hgmd904;pmd794.1;sw2880;dbsnp30054;hgmd0613_168 NP_000197;IL2RG_HUMAN;NP_000197.1 "A156V,C115F,C115R,C182R,C231Y,C62G,D39N,E109K,E109Q,E68G,E68K,F227C,G114D,G232R,H123P,I153N,L162H,L172P,L172Q,L183S,L230P,L293Q,M270R,N84K,Q144P,R222C,R224W,R226C,R226H,R285Q,S103C,S103R,S241I,T44S,W240C,Y105C,Y125N,Y89C" "1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1" 3561 9211 hgmd905;dbsnp22979;hgmd0613_2279 NP_620586;NP_620586.3 "A715T,D187N,E440K,E514K,E650K,I444V,K78T,N103D,R280Q,R704H,S44L,S529N,T658M,V197D,V237I,V672L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133396 3481 hgmd906;dbsnp23178;hgmd0613_889 NP_002176;NP_002176.2 "A260T,A33T,D389H,E113D,G236E,H165Q,I356V,N348S,N348T,P350S,R170H,S44R,S453P,T244I,T411A,T414M,T439S,Y201C" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 3575 7409 hgmd907;spmut962;evn314;dbsnp3023;dbsnp3024;dbsnp3025;hgmd0613_1216 NP_004508;ILK_HUMAN;NP_001014794.1;NP_001014795.1;NP_004508.1 "E44Q,K223N,N22S,R211C,S259A,T197A,V137M" "0,0,0,0,0,0,0" 3611 7544 hgmd908;evn392;dbsnp26924;hgmd0613_515 NP_000874;NP_000874.2 "A370T,C300H,C300R,D354N,E281Q,G552S,G73D,G75S,H381R,L65V,P50L,P8L,Q326H,Q533R,R288C,R497W,R62L,T278M,T6I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3614 5143 hgmd909;evn85;dbsnp20859 NP_000875;NP_000875.2 "A264T,A266S,C173R,D292E,D418G,E176G,E214K,F174L,N296S,N296T,R128K,R203L" "0,0,0,0,0,0,0,0,0,0,0,0" 3615 5143 hgmd90;pmd41.2;pmd42.1;pmd2935.1;pmd4283.2;sw1672;evn142;dbsnp28580;hgmd0613_19 NP_000026;ALDOB_HUMAN;NP_000026.2 "A150P,A175D,A216T,A338V,C135R,C178R,C336H,E207Q,I177V,I268N,I74T,L229P,L257P,L284P,M333V,N181K,N335K,P185R,Q21H,R134S,R304Q,R304W,V222F,V344I,W148R" "1,1,0,1,1,1,0,0,0,0,1,1,1,1,0,0,1,1,0,0,1,1,1,0,1" 229 8215 hgmd910;sw5092;dbsnp5747;hgmd0613_2034 NP_071934;INF2_HUMAN;NP_071934.3 "A13T,A656T,C104F,C104R,C104W,E184K,E220K,G1160S,K1216N,L128P,L132R,L198R,L310Q,L42P,P1096S,R214H,R218Q,R218W,R877Q,S186P,T1135M,V360I" "1,0,1,1,1,1,1,0,0,1,1,1,0,1,0,1,1,1,0,1,0,0" 64423 1283 hgmd911;sw1681;spmut972;dbsnp19042;hgmd0613_890 NP_002182;INHA_HUMAN;NP_002182.1 "A245V,A257T,G227R,M335T,P43A,R124C,R220Q,S225R,T212M,V163M" "0,1,0,0,0,0,0,0,0,0" 3623 9272 hgmd912;sw10753;dbsnp29190;hgmd0613_1922 NP_063945;INP5E_HUMAN;NP_063945.2 "C342R,D102Y,G282R,G566D,I201M,K580E,R378C,R435Q,R512W,R515W,R563H,R95H,T208I,T551M" "0,0,0,0,0,1,1,1,1,1,1,0,0,0" 56623 4647 hgmd913;pmd783.1;pmd1442.1;pmd1443.1;pmd1444.1;pmd1445.1;pmd1446.1;pmd1448.1;pmd1449.1;pmd1450.1;pmd1451.1;pmd1452.1;pmd1453.1;pmd1454.1;pmd1463.1;pmd1488.1;pmd1489.1;pmd1490.1;pmd1491.1;pmd1498.1;pmd1499.1;pmd1500.2;pmd1518.1;pmd1523.1;pmd1524.2;pmd1545.1;pmd1546.1;pmd1574.1;pmd1575.2;pmd1576.1;pmd1578.1;pmd1646.1;pmd1647.1;pmd1658.1;pmd1659.2;pmd1660.1;pmd1661.2;pmd1662.1;pmd1663.2;pmd1756.1;pmd1808.1;pmd1973.1;pmd1974.1;pmd2039.1;pmd2082.1;pmd2233.2;pmd2271.1;pmd2273.1;pmd2793.1;pmd2794.1;pmd2795.1;pmd2902.2;pmd3199.1;pmd3203.1;pmd3487.1;pmd4227.1;sw1517;dbsnp2462;dbsnp2463;dbsnp2464;hgmd0613_169 NP_000198;INS_HUMAN;NP_001172027.1;NP_001172026.1;NP_000198.1 "A24D,A24V,A38V,C43G,C96S,C96Y,F48C,F48S,F49L,G32R,G32S,G47V,G84R,G90C,H29D,H34D,L35P,L68M,R46Q,R55C,R6C,R6H,R89C,R89H,R89L,S101C,S76N,V92L,Y103C,Y108C" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,1,1,1" 3630 12964 hgmd914;sw3497;dbsnp10745;hgmd0613_1386 NP_005534;INSL3_HUMAN;NP_005534.2 "A24G,N110K,P49S,P93L,R102C,R102H,T60A,V43L" "0,1,0,1,1,1,0,0" 3640 14227 hgmd915;sw1722;sws178;spmut977;dbsnp11006;hgmd0613_170 NP_000199;INSR_HUMAN;NP_000199.2 "A1055V,A1075D,A1161T,A1162E,A119V,A2G,A706D,C280Y,C301Y,D261E,D546E,D75G,D86G,D946E,E1206D,E1206K,E517G,E51K,F409V,G1035V,G192D,G386S,G393R,G58R,G811S,H236R,H859Y,I1023F,I1143T,I146M,I448T,I925T,K1095E,K487E,L1065V,L120Q,L260P,L89P,L991I,M1180I,N42K,N458D,N489S,P1205L,P220L,P755S,P830L,P997T,Q492K,Q695R,R1020Q,R1119W,R113P,R1158Q,R1158W,R1191Q,R1201Q,R1201W,R1378Q,R279C,R279H,R762S,R796S,R926W,S1221A,S350L,S748L,T107M,T1282A,T320M,T858A,T937M,V1012M,V167L,V362I,V55A,V900I,W1220L,W1227S,W439S,Y1361C,Y171H" "1,1,1,1,1,0,0,1,1,0,0,0,1,0,1,1,0,0,1,1,0,1,1,1,0,1,0,1,1,1,0,1,1,1,0,1,1,1,0,1,1,1,1,1,1,0,0,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,0,0,0,0,1,1,1,1,0,1,0,1,1,1,1,0" 3643 1012 hgmd916;sw11738;evn728;dbsnp28499;hgmd0613_1690 NP_055240;INVS_HUMAN;NP_055240.2 "A297T,A650P,A818V,D422H,D657E,D732N,D754N,D771N,E869K,G801E,H770R,H847D,H935Y,K642R,L493S,N247S,P482R,P720R,Q796E,R123W,R613Q,R686G,R706G,R734Q,R799K,R940W,S242L,S371G,S760A,S888R,V236M,V23I,V305I,V649M,V896I" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 27130 1842 hgmd917;sw10918;spmut984;evn727;dbsnp3925;dbsnp3926;hgmd0613_1790 NP_057207;IRAK4_HUMAN;NP_001107654.1;NP_057207.2 "A428T,A459D,C128Y,E456K,H306N,H390R,I118V,I410T,I5V,M355V,Q435E,R391C,R391H,S98R,T177A,V138L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51135 7398 hgmd918;sw475;evn159;dbsnp13651;hgmd0613_1462 NP_006138;IRF6_HUMAN;NP_006138.1 "A16V,A205T,A2V,A61G,C347F,C374W,D145E,D430N,D98H,E349V,F369S,G325E,G70R,I363M,K320E,K388E,K66T,K89E,L22P,L251P,L294P,L331P,L345P,M259I,N88H,P396S,P39A,P454S,P462T,P466A,P76S,Q273R,Q82K,R250Q,R339I,R400W,R420H,R45Q,R6C,R84C,R84G,R84H,R84L,S424L,S90G,T100A,T64I,V18A,V18M,V274I,V297I,V321M,W60G" "1,0,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,1,0,1,1,1,0,0,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1" 3664 7249 hgmd919;pmd3780.1;pmd3781.1;pmd4408.1;sw3001;spmut990;evn244;dbsnp18320;hgmd0613_1387 NP_005535;IRS1_HUMAN;NP_005535.1 "A1032V,A1040V,A1124T,A1230S,A512P,C1095Y,D1137N,D755Y,D90E,E102D,E461G,F915S,G1120R,G1130S,G597E,G722S,G818R,G971R,I1019T,K1165Q,M209T,M733V,N480K,P1108A,P158R,P591A,P601L,P65T,P780L,R1074Q,R116H,R580H,R998H,S1035F,S1043Y,S809F,S892G,S906P,T535N,T608R,V689I,Y695F" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,0" 3667 1305 hgmd91;sw9665;dbsnp7826;hgmd0613_1917 NP_061982;ALG1_HUMAN;NP_061982.3 "A391V,D291G,D429E,E224D,E256K,F185C,L325M,M112L,M240I,Q342P,Q455R,R232W,R331C,R438W,S150R,S258L,S267N,T64N,V316I,V316L" "0,0,0,0,0,0,0,0,0,1,0,0,0,1,1,1,0,0,0,0" 56052 7313 hgmd920;evn523;dbsnp23200;hgmd0613_891 NP_002194;NP_002194.2 "A319T,A869T,D501N,E534K,G1157S,I118T,I173V,I783L,I893T,K1127Q,M77K,N1001K,N691K,N927S,R597C,R76Q,S1056G,S518N,S870P,T1052S,T892P,V1092E,Y468C,Y617D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3673 1476 hgmd921;sw1836;evn207;dbsnp8531;hgmd0613_346 NP_000410;ITA2B_HUMAN;NP_000410.2 "A139V,A581D,A688T,A788D,A989T,C161W,C705R,E355K,F202C,F222L,F320S,G267E,G273D,G313A,G380D,G412R,G449D,I405T,I529L,I596T,I874S,I874T,K502R,L100F,L147V,L214P,L752V,L847P,L86P,P176A,P176L,P862H,P943L,Q49H,Q778P,R1026Q,R358H,R399Q,R431S,R543W,R755P,T207I,T40A,T40I,V187M,V231I,V329F,V513M,V616M,V630I,V638I,V649L,V909L,V982M,W983R,Y174H,Y968N" "1,1,0,0,0,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,0,0,0,0,1,1,1,1,1,1,1,0,1,0,1,1,1,0,0,0,1,1,0,0,0,0,1,0,0,0,0,0,0,1,0,1,0" 3674 1942 hgmd922;evn6;dbsnp18611;hgmd0613_172 NP_000201;NP_000201.2 "A380T,D1048N,D766Y,D910N,E675K,I306V,I470V,I582V,I617T,K637E,K885N,M50V,P940L,Q6H,Q884R,R953H,S18P,S653T,S889V,S959G,T893K,V879I,V930M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3655 1749 hgmd923;sw4574;sws573;evn497;dbsnp19950;hgmd0613_893 NP_002198;ITA9_HUMAN;NP_002198.2 "A790T,E553K,E697G,F857L,G344E,G404S,G507E,G587A,I262T,K689Q,M527L,N235S,N361D,P34S,Q417R,Q632R,R564Q,R95Q,S678P,T110M,T175M,T261I,T288A,V446M,V559M,V723M,V760M,V788M" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3680 1959 hgmd924;pmd1285.1;pmd1286.2;pmd2561.1;sw1679;evn646;dbsnp16992;dbsnp16993;hgmd0613_173 NP_000202;ITB2_HUMAN;NP_000202.2;NP_001120963.1 "A10T,A239T,A645S,D128N,D128Y,D283N,D300V,D77N,E576K,E630K,G169R,G273R,G284S,G716A,I436V,K196T,L105P,L149P,N215S,N351S,P178L,Q354H,Q440R,R120W,R285C,R586W,R593C,R5C,R5S,R684C,S138P,S453N,S730N,T104M,T391M,T82K" "0,1,0,1,1,0,1,0,0,0,1,1,1,1,0,1,1,1,0,1,1,0,0,0,0,1,1,0,0,0,1,1,0,0,0,0" 3689 3450 hgmd925;pmd749.2;pmd1289.1;pmd1900.1;pmd2288.1;pmd2289.1;pmd2482.1;pmd3223.1;pmd3224.1;pmd3323.1;sw1678;evn845;dbsnp8532;hgmd0613_174 NP_000203;ITB3_HUMAN;NP_000203.2 "A737T,C400Y,C532Y,C568R,C586F,C586R,C601R,D145N,D145Y,D243V,D362N,E200K,G598S,G605S,H306P,H472R,I252V,I330N,K324E,L116F,L143W,L222P,L288P,L394V,L59P,L66R,M150V,M321L,P186L,P433A,P711S,P77L,R117Q,R119W,R169Q,R240Q,R240W,R242Q,R473H,R4Q,R515Q,R524W,R662C,R6G,R750Q,S188L,S778P,T166I,T221S,V133G,V14M,V453I,Y141C" "0,1,1,1,1,1,1,1,1,1,0,0,1,1,1,0,0,1,0,0,1,1,1,0,0,0,1,1,0,1,0,0,0,1,0,1,1,1,0,0,0,0,1,0,0,1,1,1,0,0,0,0,1" 3690 3218 hgmd926;evn134;dbsnp8698;hgmd0613_554 NP_001005731;NP_001005731.1 "A1304T,A1619T,A808T,A929T,C736F,D1276V,D1439E,D1450N,D1585N,D705E,D880N,D966N,E508K,E853K,F999S,G1200R,G1680R,G449S,H1744Q,I1143V,K703R,L1709P,L901F,M1745V,M55L,P1554L,P200L,P708L,Q478H,R1074H,R1427C,R1482W,R1504Q,R1678H,R1733Q,R252G,R382W,R394K,R505W,R515H,R556C,R556H,R670H,R892C,R892G,R945W,R977C,S1433L,S1433W,S1451F,T1460M,T421M,T973N,V1365I,V1411M,V475M,V78M,V942A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3691 545 hgmd927;sw4261;sws525;spmut1002;evn733;dbsnp23697;hgmd0613_1388 NP_005537;ITK_HUMAN;NP_005537.3 "A270P,I290L,L254W,P118S,R193Q,R335W,R581W,T141A,T256I,T449S,T504S,V211L,V587I,V83M,Y311F" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 3702 4907 hgmd928;evn903;dbsnp20415;hgmd0613_894 NP_002213;NP_002213.5 "A1712P,A1898T,A2424T,D1130G,D2147H,D688N,D97N,E1137G,E996Q,G1716S,G2429S,H1244N,H1397Q,I1406V,I172T,I178V,K1800R,M1560L,M1730V,M754V,N1146K,N432S,P1148S,P1887S,Q2467E,R1698Q,R2456K,S1458L,S1553N,S2446T,V1282I,V1684I,V1693I,V2441M,V479I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3708 182 hgmd929;evn101;dbsnp6891;hgmd0613_895 NP_002216;NP_002216.2 "A2V,A5T,A7V,H33Y,I137V,K58M,L309V,R120Q,R414Q,R73H,S158N,T239I,V289G,W13C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3712 8012 hgmd92;sw5145;spmut85;dbsnp5185;hgmd0613_549 NP_001004127;ALG11_HUMAN;NP_001004127.2 "E387A,E398K,I426T,L268I,L381S,L86S,N108S,N58I,Q318P,R346H,Y279S" "0,1,0,0,1,1,0,0,1,0,1" 440138 6803 hgmd930;sw6153;spmut1007;dbsnp25420;hgmd0613_2492 NP_981932;IYD1_HUMAN;NP_981932.1 "A202T,A61T,D186H,E271K,H80P,I116T,L260P,N108S,R101W,R246Q,T273M" "0,0,0,0,0,1,0,0,1,0,0" 389434 11036 hgmd931;pmd801.1;sw3929;spmut1008;evn881;dbsnp16394;hgmd0613_175 NP_000205;JAG1_HUMAN;NP_000205.1 "A127T,A155P,A155T,A31V,C187S,C187Y,C220F,C229G,C229Y,C234Y,C271R,C284F,C438F,C693Y,C714Y,C731S,C740R,C753R,C78S,C902S,C911Y,C92R,C92Y,E982A,F75S,G256S,G274D,G33D,G33S,G33V,G386R,H908Q,I120N,I1217T,I152T,I39S,K154R,K65M,L37S,L40P,L79H,L921P,M1161T,N1110T,N504S,N53D,P123S,P129R,P163L,P163R,P269L,P871R,R1056S,R1094Q,R1213Q,R184C,R184G,R184H,R184L,R203K,R252G,R744Q,R818K,R889Q,R937Q,S10P,S913R,T1189M,T701P,T767M,V1156A,V146I,V272I,V28L,V45L,W224C,W288C,Y181N,Y690D" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,0,0,1,1,0,1,0,0,0,0,0,0,0,1,1,1,1,1" 182 1314 hgmd932;pmd802.1;pmd803.2;sw3570;sws428;spmut1009;dbsnp11024;hgmd0613_176 NP_000206;JAK3_HUMAN;NP_000206.2 "A1090T,C759R,D169E,E481G,F45S,G589S,H879R,I1003V,I63V,I688F,L521V,L910S,P12L,P132T,P151R,P764L,P791S,R40H,R451Q,R582W,R925C,R925S,V722I,Y100C,Y1023H" "0,1,1,1,0,1,0,0,0,0,0,1,0,0,1,0,0,0,0,1,0,0,1,1,0" 3718 1642 hgmd933;sw9603;evn917;dbsnp16336;hgmd0613_1941 NP_065166;JPH2_HUMAN;NP_065166.2 "A124D,A396T,A637V,E402K,E577K,G483V,G505S,H26R,L609P,N43S,P485L,R436C,S101R,S165F,S523P,T286A,V501A,Y141H" "0,0,0,0,0,0,1,0,0,0,0,0,1,1,0,0,0,1" 57158 4104 hgmd934;sw2565;dbsnp29599;hgmd0613_177 NP_000207;KALM_HUMAN;NP_000207.2 "A466V,C134G,C163R,C163Y,C172R,E514K,E539K,F420S,F517L,H483Y,I323M,K185N,K666M,L128S,N267K,N304S,P214A,P428L,R262P,R297Q,R461W,R668H,S396L,S511Y,V303I,V534I,V543I,V587L,W571R" "0,1,1,1,1,1,1,0,1,0,0,1,0,0,1,1,0,0,1,0,0,0,1,0,0,0,0,0,1" 3730 4266 hgmd935;sw4279;spmut1036;evn1079;dbsnp3689;hgmd0613_178 NP_000208;KCNA1_HUMAN;NP_000208.2 "A242P,A28T,A476G,E325D,F184C,F249I,H203R,I177R,I400V,L329I,L46M,P244H,R204H,R239S,R443G,R443H,S342I,T226A,T226K,T226M,T226R,V174F,V404I,V408A" "1,0,0,1,1,1,0,1,0,1,0,1,0,1,0,0,1,1,1,1,1,1,1,1" 3736 4561 hgmd936;sw2528;sws283;spmut1037;dbsnp3474;hgmd0613_897 NP_002225;KCNA5_HUMAN;NP_002225.2 "A115V,A251T,A287S,A287V,E211D,G31V,G384R,G568V,P228S,P307S,P310L,P532L,R212C,R214C,R214G,R554Q,R577Q,R578K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3741 4561 hgmd937;sw4595;evn688;dbsnp12471;hgmd0613_1289 NP_004968;KCNC3_HUMAN;NP_004968.2 "A210T,D133N,D63G,F448L,M533I,P35L,Q41H,R420H,R698H" "0,0,0,1,0,0,0,1,0" 3748 3540 hgmd938;pmd2832.1;sw2221;spmut1039;hgmd0613_180 NP_000210;KCNE1_HUMAN "D76N,D85N,G52A,L51H,P127T,R32H,R98W,S38G,S74L,T7I,V109I,V47F,W87R" "1,1,0,1,1,1,1,0,1,1,1,1,1" 3753 14254 hgmd939;sw11418;dbsnp30163;hgmd0613_1620 NP_036414;KCE1L_HUMAN;NP_036414.1 "E114Q,P33S" "0,0" 23630 14043 hgmd93;sw9721;dbsnp17556;hgmd0613_2055 NP_077010;ALG12_HUMAN;NP_077010.1 "A81V,F142V,G101R,G222A,I218V,I393V,L158P,Q475H,R10W,R120Q,R146Q,R211C,R233Q,R449Q,R449W,T476R,T67M,V107M" "0,1,1,0,0,0,1,0,0,0,1,0,0,0,0,0,1,0" 79087 6865 hgmd940;pmd238.2;sw12071;spmut1040;evn1006;dbsnp16998;hgmd0613_2380 NP_751951;KCNE2_HUMAN;NP_751951.1 "A116V,A66V,F119L,F60L,I57T,K40R,M54T,Q93K,Q9E,R27C,R77W,T8I,V65M" "1,0,0,1,1,0,1,0,1,1,1,0,1" 9992 14351 hgmd941;sw12063;spmut1041;evn449;dbsnp2600;hgmd0613_1373 NP_005463;KCNE3_HUMAN;NP_005463.1 "P39R,R47G,R47P,R83H,R88H,R99H,T4A,T9I" "0,0,0,1,0,1,1,0" 10008 14602 hgmd942;pmd755.2;pmd1254.1;pmd1353.1;pmd4255.2;sw4334;spmut1042;evn806;dbsnp25988;hgmd0613_198 NP_000229;KCNH2_HUMAN;NP_000229.1 "A188G,A422T,A490T,A558P,A561T,A561V,A614V,A85V,A913V,C66G,D456Y,D609N,D774Y,D837G,E1130D,E637K,E788D,E975D,F29L,F640L,F640V,F805C,F805S,G1036D,G238S,G306W,G47V,G53R,G572C,G572R,G572S,G584S,G601S,G604S,G626S,G628S,G628V,G820R,G925R,H562P,H70R,I31S,I571L,I593R,I593T,K525N,K638E,K897T,L552S,L564P,L615V,L622F,L86R,M137I,N33T,N470D,N588D,N629D,N629K,N629S,N633S,N635I,N861I,N996I,P1016L,P1016S,P1018A,P1018S,P1020L,P1020S,P1026L,P157S,P347S,P451L,P596R,P632S,P721L,P72Q,P917L,Q247P,R100G,R100Q,R1055Q,R176W,R181Q,R312C,R528P,R531Q,R534C,R56Q,R582C,R696C,R744P,R752Q,R752W,R823W,R887H,R922W,R948C,S26I,S320L,S55L,S631A,S641F,S818L,T337S,T421M,T436M,T474I,T613M,T623I,T65P,T875A,T983I,V295A,V533G,V612L,V630A,V630L,V822M,W585C,Y420C,Y427S,Y569H,Y611H" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,0,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,0,0,1,1,1,1,1,1,1,1,1" 3757 1429 hgmd943;pmd3241.1;sw3313;sws390;dbsnp1517;hgmd0613_181 NP_000211;IRK1_HUMAN;NP_000211.1 "A198T,A214V,D108E,D108H,D74Y,G167E,M357T,M391I,N124K,P110L,R188C,R212P,R25Q,R31C,R6W,S219R,T11M,T86A,V122E,V315G,V72E,W99C" "1,1,0,1,1,1,1,0,1,1,1,0,0,0,0,1,0,0,1,1,1,1" 3758 8767 hgmd944;sw3930;evn1073;dbsnp13325;hgmd0613_898 NP_002232;IRK10_HUMAN;NP_002232.2 "A167V,C140R,D100E,D100G,D245E,D46N,E177G,G22A,G77R,K354R,M21V,R18Q,R18W,R271C,R271H,R297C,R348H,R65P,T164I" "1,1,0,0,0,0,0,0,1,0,0,1,0,0,0,1,0,1,1" 3766 8994 hgmd945;dbsnp1271;hgmd0613_430 NP_000516;NP_000516.3 "G53D,G53R,G53S,I167L,L270V,R195H,R369H,R50P,R50Q,T345M,V13M,V337I" "1,1,1,1,0,0,0,1,1,0,0,0" 3767 8050 hgmd946;sw913;evn353;dbsnp18321;hgmd0613_899 NP_002233;IRK13_HUMAN;NP_002233.2 "D232E,E276A,G309C,H342R,L241P,P290Q,Q117R,R162Q,R162W,R18Q,T175I" "0,1,0,0,1,0,1,1,1,0,0" 3769 9407 hgmd947;pmd804.2;sw3885;evn546;dbsnp8736;hgmd0613_517 NP_000882;IRK2_HUMAN;NP_000882.1 "C54F,D172N,D388E,D405G,D407N,D71V,E118V,G119S,G146S,G206S,G300V,I156V,I287M,I406L,K117R,M24L,N127S,N216H,N370S,P186L,P403S,R218W,R5G,R67W,S116G,T305P,T75R,V302M,V394L,V93I" "1,1,0,0,0,1,0,0,1,0,1,0,0,0,0,0,0,1,0,1,0,1,0,1,0,1,1,1,0,1" 3759 7681 hgmd948;sw4940;evn632;dbsnp4385;hgmd0613_1291 NP_004973;IRK8_HUMAN;NP_004973.1 "A286V,E255D,G114S,I27V,M406I,N395S,R70H,T283S,V334A,V346I" "0,0,0,0,0,0,0,0,0,1" 3764 8050 hgmd949;sw10607;evn618;dbsnp28323;hgmd0613_1810 NP_057685;KCNK9_HUMAN;NP_057685.1 "G236R,P291A,T103I,V312A" "1,0,0,0" 51305 8710 hgmd94;sw10288;evn94;dbsnp28971;hgmd0613_2200 NP_149078;ALG2_HUMAN;NP_149078.1 "A42T,G6A,I159V,L254V,L312F,P158T,R378C,S11P,V367A" "0,0,0,0,0,0,0,0,0" 85365 8247 hgmd950;evn181;dbsnp620;hgmd0613_900 NP_002238;NP_002238.2 "E764D,S11N,T723S" "0,0,0" 3778 1320 hgmd951;sw4986;evn1096;dbsnp23316 NP_004128;KCMB1_HUMAN;NP_004128.1 "E143K,G153R,R140Q,R140W,R97Q,V110L,Y113D,Y74C" "0,0,0,0,0,0,0,0" 3779 13149 hgmd952;pmd454.1;pmd807.1;pmd4626.1;pmd4627.2;sw3532;spmut1049;hgmd0613_179 NP_000209;KCNQ1_HUMAN "A178P,A178T,A194P,A302V,A341E,A341V,A344E,A344V,A371T,A525T,A590T,C122Y,C136F,D242N,D317N,E115G,E160K,E261D,E261K,E290K,F157C,G179S,G189R,G216R,G269D,G269S,G292D,G314D,G314R,G314S,G325R,G345E,G345R,G568R,G589D,G626S,G643S,I204F,I235N,I313M,I567S,K318N,K362R,K393N,K526E,L250H,L266P,L273F,L273R,L342F,L353P,L374H,L619M,P320A,P320H,P343S,P448R,P73T,R174C,R174H,R190Q,R243C,R243H,R259C,R259L,R293C,R366P,R366Q,R366W,R380S,R452W,R533W,R539W,R555C,R555H,R583C,R591H,R594Q,S140G,S225L,S277L,S349W,S373P,S389Y,S546L,S566F,S566Y,T309R,T311I,T312I,T322A,T391I,T587M,V133I,V254M,V307L,V310I,V417M,V524G,W248R,W304R,W305S,W392R,Y111C,Y184S,Y278H,Y281C,Y315C,Y315S" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 3784 4305 hgmd953;sw707;spmut1050;dbsnp16200;hgmd0613_2379 NP_742105;KCNQ2_HUMAN;NP_742105.1 "A306T,E515D,H228Q,K554N,L243F,M208V,M620I,N780T,R207Q,R207W,R214W,R333Q,S247W,V450M,Y284C" "1,1,1,1,1,1,0,0,1,1,1,1,1,0,1" 3785 2756 hgmd954;sw706;spmut1051;evn507;dbsnp27560;hgmd0613_1217 NP_004510;KCNQ3_HUMAN;NP_004510.1 "D305G,D674E,D755N,E414G,G310V,G723E,H715R,I508V,I872T,N468S,P769H,S665L,T703P,V629L,W309R,Y658C,Y741F" "1,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0" 3786 2757 hgmd955;sw3740;evn88;dbsnp14842;hgmd0613_1255 NP_004691;KCNQ4_HUMAN;NP_004691.2 "G285C,G285S,G287R,G296S,G321S,H455Q,I537V,L274H,L281S,M616I,R338Q,T477I,W276S" "1,1,1,1,1,0,0,1,1,0,0,0,1" 9132 2756 hgmd956;sw8252;dbsnp29007;hgmd0613_2259 NP_598004;KCNV2_HUMAN;NP_598004.1 "A259V,A452V,A94T,E20K,E6Q,F254L,G459D,G461R,L126Q,L533V,L539P,M285R,N536S,Q4E,R383L,S256W,W16C,W188C" "1,0,0,0,0,0,1,1,1,0,0,1,0,0,0,1,0,1" 169522 5908 hgmd957;sw3135;spmut1058;evn420;dbsnp30425;hgmd0613_1168 NP_004178;KDM5C_HUMAN;NP_004178.2 "A1309T,A388P,C640Y,D402Y,D87G,E698K,E792A,F642L,K188N,L1194P,L731F,M373V,P1231L,P1365L,Q1348E,R108W,R1314Q,R1546Q,R750W,R909Q,S1179T,S1537L,S451R,T1533P,T851A,V876I,Y751C,Y883F" "0,1,1,1,1,1,0,1,0,0,1,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,1,0" 8242 769 hgmd958;sw3032;sws348;spmut2349;evn842;dbsnp21838 NP_002244;VGFR2_HUMAN;NP_002244.1 "A1065T,A352V,A379V,A467P,A521V,D1313N,D392N,D814N,E16G,E372D,E674D,F321I,G1283S,G539R,I1330L,L462V,N66K,P830S,Q2E,Q472H,R57T,S1279A,S21F,T572A,T668M,T689M,T771M,V1356A,V136M,V218I,V297I,V595M,V848E,V952I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3791 1057 hgmd959;pmd4230.1;pmd4231.2;sw2561;spmut1063;dbsnp26256 NP_000411;KELL_HUMAN;NP_000411.1 "A163T,A445V,D231E,D692N,E413K,E606Q,I278L,L58F,L64F,M1T,S502L,S726A,S726P" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3792 3763 hgmd95;sw8577;dbsnp20339;hgmd0613_1416 NP_005778;ALG3_HUMAN;NP_005778.1 "G118D,I107V,P424L,R171Q,R308G,V139I,V180G" "1,0,0,1,0,0,0" 10195 7796 hgmd960;sw917;evn137;dbsnp3366;hgmd0613_1564 NP_008966;KERA_HUMAN;NP_008966.1 "A182T,L12F,N247S,R313Q,S118I,S118N,S51N,T215K,V235G,V29I" "0,0,1,0,0,0,0,1,0,0" 11081 8936 hgmd961;sw3442;dbsnp18562;hgmd0613_182 NP_000212;KHK_HUMAN;NP_000212.1 "A43T,G40R,M63I,R108H,R159G,R176Q,R214H,S273G,T98M,V188M,V20G,V264I,V274M,V49I" "1,1,0,0,0,0,0,0,0,0,0,0,0,0" 3795 10905 hgmd962;sw4321;evn636;dbsnp28067;hgmd0613_1712 NP_055661;STRUM_HUMAN;NP_055661.3 "A73C,C385Y,D907E,E219K,E265D,I106V,I778V,I808V,K202R,K361R,K396R,K740R,L2V,L392F,L619F,N1057T,N206S,N471D,P216L,Q213H,Q273P,R336T,R393H,R859H,S197G,S205P,V1107M,V120I,V301A,V626F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1" 9897 1526 hgmd963;sw8363;evn465;dbsnp6837;hgmd0613_1897 NP_061159;K1199_HUMAN;NP_061159.1 "A1063T,A150T,C1000R,D38Y,E1133K,F1277L,G104R,G391D,G391V,G870D,H1209Y,H546L,H783R,H783Y,K1359N,K147E,L10F,L411V,P1169A,P278S,P772L,R187C,R187H,R211K,R400Q,R909H,T1107M,T1180I,T542M,V1109I,V323M,V552M" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0" 57214 1045 hgmd964;evn915;dbsnp13793;hgmd0613_1726 NP_055889;NP_055889.2 "A897T,E1628K,F959V,G1523A,I1130V,I1499V,I1756M,K1051Q,K290R,K842R,L1163P,N731S,P1166L,P1765L,S1653G,S542N,T674I,V1554M,V1558I,Y1087C,Y643S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23095 552 hgmd965;evn643;dbsnp3270;hgmd0613_1833 NP_060111;NP_060111.2 "A139P,A139S,A865T,D599E,D599N,D612E,E1104Q,E1224D,G1611D,G414R,G614V,I958V,K543R,L111Q,L493S,L548F,N1037S,N1272T,N887T,N973S,P1112T,P1201R,P1223A,P845A,P882L,Q1489R,Q1647L,Q203R,R954K,S1291Y,S1492N,S1492R,S591N,T881M,V107I,V1098A,V1378M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55605 667 hgmd966;sw4340;spmut1070;evn107;dbsnp4640;hgmd0613_1292 NP_004975;KIF5A_HUMAN;NP_004975.2 "A1020T,A361V,A391S,A961G,E251K,E385D,E386D,E758K,G384R,K253N,K257N,L701V,M198T,N256S,P986L,R204Q,R280C,R280H,R280L,R369W,S203C,S528A,S754N,T761S,T947A,T962A,T976I,Y276C,Y63C" "0,1,0,0,1,0,0,0,0,1,1,0,1,1,0,1,1,1,1,0,1,0,0,0,0,0,0,1,1" 3798 1971 hgmd967;sw3235;dbsnp10938 NP_037421;KI3L1_HUMAN;NP_037421.2 "A399V,C364F,C364S,C364Y,E138D,E258D,E394Q,G159R,G159W,G259R,G260E,H53R,I68V,I75L,K162E,K271N,K271R,K435E,L13F,L187H,L187P,L187R,L362R,M23L,M23V,N81K,P184A,P184S,P184T,P203S,P220L,R274G,R298C,R96W,S2L,S333C,V113L,V113M,V272I,W304L,Y51C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3811 7486 hgmd968;sw7301;evn611;dbsnp3002;hgmd0613_2169 NP_115920;KIRR3_HUMAN;NP_115920.1 "F39Y,G592A,I190V,I353V,R336Q,R40W,V11I,V30M,V731F" "0,0,0,0,1,1,0,0,1" 84623 3376 hgmd969;sw4911;dbsnp12830;hgmd0613_901 NP_002247;KISS1_HUMAN;NP_002247.3 "E20K,P81R,Q36R" "0,0,0" 3814 14113 hgmd96;dbsnp14159;hgmd0613_1644 NP_037471;NP_037471.2 "E2K,K226N,L12F,L453V,S304F,S373L,T251A,T454M" "0,0,0,0,0,0,0,0" 29929 6523 hgmd970;sw8683;dbsnp12065;hgmd0613_2171 NP_115940;KISSR_HUMAN;NP_115940.2 "C223R,C95W,L102P,L148S,L364H,M311I,P147S,R297L,R386P" "1,0,1,1,0,0,0,1,1" 84634 8616 hgmd971;pmd1294.1;pmd4419.1;sw2009;sws209;spmut1072;evn852;dbsnp22051;hgmd0613_183 NP_000213;KIT_HUMAN;NP_000213.1 "A178T,A402S,C691S,D816V,D820G,D974N,E583K,F584C,F584L,G601R,G664R,G812V,I163V,L656P,M541V,N293S,N400S,P34L,R791G,R796G,S715N,T274M,T847P,V374I,V399I,V530I,V532I,V559A,V742A" "1,0,0,1,1,0,1,1,1,1,1,1,0,1,0,0,0,0,1,1,0,0,1,0,0,0,0,1,0" 3815 2201 hgmd972;sw2487;evn604;dbsnp3848;hgmd0613_520 NP_000890;SCF_HUMAN;NP_000890.1 "A231V,D210Y,E256D,F232C,F232Y,L223F,N36S,R202M,T54A,V23I" "0,0,0,0,0,0,1,0,0,0" 4254 11404 hgmd973;sw11292;sws1262;evn753;dbsnp5057;hgmd0613_1267 NP_004786;KLOT_HUMAN;NP_004786.2 "A107V,A203S,C370S,D310E,D876N,E625K,E676A,F352V,F45V,G25A,G766S,H193R,H902Q,L109R,L111S,L369V,M384T,N131K,N857K,P15Q,P514S,P740A,R620C,R853C,S993F,T686M,V323I,V590I,Y1003C" "0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9365 2055 hgmd974;sw4468;evn260;dbsnp11279;hgmd0613_1519 NP_006554;KLF1_HUMAN;NP_006554.1 "E325K,F182L,M39L,P109S,Q342H,S102P" "1,0,0,0,0,0" 10661 9351 hgmd975;sw476;dbsnp19199;hgmd0613_1084 NP_003588;KLF11_HUMAN;NP_003588.1 "A146V,A347S,D137G,E181K,G203E,L318R,M359I,M477V,P261L,P92L,Q62L,Q62R,R29Q,R402Q,S182R,S378F,T136M,T220M" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 8462 6438 hgmd976;evn407;dbsnp9843;hgmd0613_2341 NP_689680;NP_689680.2 "A160T,A25T,E2D,E579G,G385S,I189V,I224V,I296T,K54M,N276S,P589T,R11G,S51N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 317719 5039 hgmd977;sw7166;evn53;dbsnp27153;hgmd0613_585 NP_001026880;KLHL7_HUMAN;NP_001026880.2 "A153T,A153V,A3T,D255N,D282E,G5V,H423Y,I47M,I529T,I529V,K472Q,K504T,M1G,N36S,S10C,S150N,S9N,T370A,V556F,V556I" "1,1,0,1,0,0,0,0,0,0,1,0,0,0,0,1,0,0,0,0" 55975 5319 hgmd978;dbsnp12309;hgmd0613_2323 NP_665901;NP_665901.1 "C196Y,H107Q,P34L,R87W" "0,0,0,0" 43849 11829 hgmd979;dbsnp21944;hgmd0613_518 NP_000883;NP_000883.2 "A178T,A210E,D354N,D619E,D70E,F311V,G264D,G521R,G94S,H202Q,H208P,I230N,K411N,K624T,L258F,M634K,Q442P,R446H,R560Q,R591H,S269C,S381A,T270A,T358A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3818 4712 hgmd97;sw9742;evn40;dbsnp1391;hgmd0613_2053 NP_076984;ALG8_HUMAN;NP_076984.2 "A506T,A519P,G275D,I228V,I299T,I439T,I503V,K525T,L4F,N222S,N290S,Q526H,R268Q,S404L,S518P,T327R,T47P,V238L,Y84C" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 79053 6186 hgmd980;evn1034;dbsnp3552;hgmd0613_1293 NP_004976;NP_004976.2 "D173E,V186I" "0,0" 3845 12213 hgmd981;sw363;spmut1086;evn518;dbsnp26745;dbsnp26746;dbsnp26747;dbsnp26748;hgmd0613_2457 NP_919438;KRIT1_HUMAN;NP_004903.2;NP_919436.1;NP_919437.1;NP_919438.1 "F97S,G101V,G613D,I415M,I561V,I79V,K569E,K682N,K682Q,L135F,P504S,Q521K,R167C,R26Q,R485H,S305N,S736L,T380I,T693A,V422F,V422I,V587I,V718M" "1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 889 3733 hgmd982;sw1646;dbsnp3288;hgmd0613_1459 NP_006112;K2C1_HUMAN;NP_006112.3 "A454S,D340V,E490Q,G101A,G105V,G537C,I312V,I330T,I479F,I479T,I78V,K633R,K74I,L161P,L214P,L486P,N188K,N188S,N188T,Q260K,R38H,R432C,R65W,R86S,S186P,S193P,T328S,V155D,V155G,Y358N,Y482C,Y525S" "0,1,1,0,0,0,0,0,1,1,0,0,1,1,1,1,1,1,1,0,0,0,0,0,1,1,0,1,1,0,1,0" 3848 4648 hgmd983;dbsnp9197;hgmd0613_347 NP_000412;NP_000412.3 "F102S,G126S,G533S,M150R,M150T,N286T,R15H,R86H,S101T,S16N,S33F,S42F,S53N" "0,0,0,1,1,0,0,0,0,0,0,0,0" 3858 4864 hgmd984;sw9442;evn335;dbsnp9456;hgmd0613_184 NP_000214;K1C12_HUMAN;NP_000214.1 "A137P,A149V,A51T,D248N,E241K,G84C,I426S,L140R,M129T,M301T,N206S,N299S,P15S,Q130P,Q475R,R135G,R135I,R135S,R135T,R158Q,R20W,R236C,R468Q,T243I,V387L,Y429C,Y429D" "1,0,0,0,0,0,1,1,1,0,0,0,0,1,0,1,1,1,1,0,0,0,0,0,0,1,1" 3859 6208 hgmd985;dbsnp8688;hgmd0613_904 NP_002265;NP_002265.2 "A146G,A187V,A292V,E332G,F81Y,G256D,G256S,G67S,P420L,R137H,R213W,R272H,R27H,R355H,R406H,R406L,S337P,T170S,V204M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3860 6208 hgmd986;dbsnp9188;hgmd0613_431 NP_000517;NP_000517.2 "A94T,D142N,G68S,G72S,M119T,N123S,R125C,R125G,R469C,V452I" "0,0,0,0,1,1,1,1,0,0" 3861 6208 hgmd987;sw1861;dbsnp9608;hgmd0613_1391 NP_005548;K1C16_HUMAN;NP_005548.2 "A180V,A186T,E139Q,E313K,F102L,G67S,G71A,K354N,L124R,L128Q,L132P,M121T,M296T,N125S,Q122P,R127C,R127P,R213W,R225Q,R284H,R330H,R330L,R337Q,R390C,R409W,R418C,R419C,R419H,R419L,R41C,T215S,T306A" "0,0,0,0,0,0,0,1,1,1,1,1,0,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3868 6208 hgmd988;sw4146;spmut1015;evn1077;dbsnp8939;hgmd0613_348 NP_000413;K1C17_HUMAN;NP_000413.1 "A322T,E107K,E223K,I159T,L95P,L95Q,L99P,M88T,N109D,N327S,N92D,N92H,N92S,R163G,R170C,R230Q,R251C,R30P,R30Q,R334C,R94C,R94H,R94P,S4T,T51A,V102M,V337M,Y135H,Y98D" "0,0,0,0,1,1,1,1,1,0,1,1,1,0,0,0,0,0,0,0,1,1,1,0,0,1,0,0,1" 3872 6208 hgmd989;sw1714;spmut1016;evn913;dbsnp4107;dbsnp4108;hgmd0613_185 NP_000215;K1C18_HUMAN;NP_000215.1;NP_954657.1 "A26T,A32S,D389E,E102V,G340R,H128L,I194V,I67M,K119R,N193D,P28Q,R124G,R261Q,R27W,R381H,R50L,S230T,S2N,S34R,T103A,T4I,T65S" "0,0,0,0,1,1,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0" 3875 7941 hgmd98;sw11583;sws1303;spmut89;dbsnp18312;hgmd0613_1181 NP_004295;ALK_HUMAN;NP_004295.2 "A1274T,A309T,A613P,A704T,A877S,D1529E,E1419K,E296Q,E717K,E859D,F1174C,F1174V,F1245V,F1376S,F270L,G1121D,G1128A,G850R,H1030P,I1250T,I1461V,K1416N,K1491R,K383M,L868Q,M1328L,P1027L,P1599H,Q1429R,R1192P,R1275L,R1275Q,R1284K,R259H,R311C,R311H,R412C,S426T,S90L,T1012M,T1151M,T648I,T680I,V1019I,V163L,V198M,V476A" "0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 238 713 hgmd990;sw3028;dbsnp3341;hgmd0613_349 NP_000414;K22E_HUMAN;NP_000414.2 "A369S,A425T,A517G,E465D,E465K,E476K,E476V,E487D,E487K,E488K,G114S,G219D,G574R,G599R,G624R,I182N,I477N,L484P,N186D,N186K,N186Y,N256S,Q181P,R20W,R34W,R430H,R45H,R544Q,S101G,S106N,T479P" "0,0,0,1,1,1,1,1,1,1,0,0,0,0,0,1,1,1,1,1,1,0,1,0,0,0,0,0,0,0,1" 3849 4648 hgmd991;sw2075;dbsnp3918;hgmd0613_2228 NP_476429;K2C3_HUMAN;NP_476429.2 "E433K,E509K,F105L,G103A,G44A,G544R,G601D,G611S,I329T,L343I,Q236E,R375G,R503P,R84W,S242P" "0,1,0,0,0,0,0,0,0,0,0,0,1,0,0" 3850 4648 hgmd992;evn573;dbsnp3801;hgmd0613_902 NP_002263;NP_002263.3 "A72V,G474R,L253M,N183S,P121T,Q156R,R208H,S44P,T135M,V381A" "0,0,0,0,0,0,0,0,0,0" 3851 5134 hgmd993;sw2137;dbsnp3342;hgmd0613_350 NP_000415;K2C5_HUMAN;NP_000415.2 "A438D,D158V,D197E,D328E,D328G,D328H,D328V,E167K,E168K,E170K,E190K,E418K,E475G,E475K,E477K,F179S,F87V,G108S,G138E,G517D,G519S,G539S,G543C,G543R,G543S,G569R,I161S,I467T,K173N,K199T,K404E,L175F,L311P,L325P,L463P,L546I,M327K,M327T,N176S,N177S,N193K,N329K,P152L,P25L,Q191P,R169P,R331C,R331H,R352S,R354Q,R420H,R559Q,S181P,S232N,S387T,S528G,S79R,T469P,V143D,V186M,V211M,V323A,V324D" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,0,0,0,0,1,1,1,0,1,1" 3852 4648 hgmd994;sw1562;evn254;dbsnp3347;hgmd0613_1389 NP_005545;K2C6A_HUMAN;NP_005545.1 "E472K,F174V,G111D,G88R,G97R,L210M,L469R,N21S,P154A,P154S,R443W,T552S,V523F" "1,1,0,0,0,0,1,0,0,0,0,0,0" 3853 4648 hgmd995;sw1645;dbsnp3311;hgmd0613_1390 NP_005546;K2C6B_HUMAN;NP_005546.2 "D396N,E472K,G111D,G126D,G499S,G504S,G532S,G88R,G97R,H312Y,I365V,I36V,K189N,K438R,M279L,N21S,N227S,N425S,R182Q,R40H,R466C,S531R,S546N,T196I,V454I,V481I,Y497C" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3854 4648 hgmd996;sw6600;dbsnp3345;hgmd0613_2407 NP_778223;K2C74_HUMAN;NP_778223.2 "A284T,A487T,D149N,D225V,D482N,E271D,E328K,E424K,F244S,F274S,G100R,G373R,G507V,G515R,G65A,I372V,L178Q,L422M,L435V,N148K,N165K,P108L,P476S,R141Q,R363W,R392Q,R392W,R420W,R443H,R85W,S381G,S470I,T503A,V359M" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 121391 4648 hgmd997;sw1715;spmut1020;dbsnp3645;dbsnp3736;hgmd0613_903 NP_002264;K2C8_HUMAN;NP_002264.1;NP_001243222.1 "A132S,A345S,A351D,A368T,D337N,D479N,E229A,F175L,G30S,G342A,G48D,G52C,G53D,G53V,I63V,K158N,L76I,R149W,R233W,R23C,R369L,R372C,R401W,S458Y,S475C,T455A,T64N,V462D,V480I,Y54C,Y54F" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 3856 5134 hgmd998;sw4688;evn1026;dbsnp3953;hgmd0613_905 NP_002272;KRT81_HUMAN;NP_002272.2 "A276D,A349T,A359V,A455S,C217F,E402K,E413K,I254V,L248R,P456L,R221H,R288C,R316C,R446Q,S13R,T333M,V485M" "0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0" 3887 5134 hgmd999;sw3920;evn1025;dbsnp3812;hgmd0613_906 NP_002273;KRT83_HUMAN;NP_002273.3 "C23G,C423S,E407K,G362S,G443R,G471D,H493Y,I254V,I279M,P25S,R130H,R13L,R149C,R253H,R293C,R293H,S28T,V107M" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3889 5134 hgmd99;sw2347;dbsnp8648 NP_000688;LOX12_HUMAN;NP_000688.2 "A298T,D134H,E259K,G117R,K133N,N322S,Q261R,R189H,R402Q,R404Q,R430H,R628P,R628Q,T568N,V479I,V53I,Y191H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 239 4443 hgmd9;pmd17.1;pmd551.2;sw3915;sws469;spmut26;evn493;dbsnp13226;hgmd0613_291 NP_000341;ABCA4_HUMAN;NP_000341.2 "A1038V,A1310T,A147T,A1506V,A1598D,A1637T,A1794D,A192T,A199V,A2216V,A2271G,A407V,A549P,A60E,A60T,A60V,A762E,A788T,A854T,C1488F,C1488R,C1488Y,C1490Y,C2137Y,C2150R,C2150Y,C230S,C54Y,C75G,C764Y,C941Y,D1204N,D1532N,D1995V,D249G,D523E,D645N,D846H,E1022K,E1036K,E1087D,E1087K,E1122K,E1399K,E1501D,E1817D,E1885K,E207K,E207Q,E2096K,E2131K,E328V,E471K,E531G,F1440S,F1440V,F251L,F525C,F608I,F873L,F938S,G1091E,G1203E,G1439D,G1448R,G1508C,G1578R,G1591R,G1748R,G1886E,G1961E,G1975R,G1977S,G2059A,G2146D,G550R,G607R,G607W,G65E,G72R,G818E,G851D,G863A,G978C,G991R,H130R,H1406Y,H1838Y,H2128R,H289R,H423R,H423Y,H51Q,H914R,I1562T,I156V,I1846T,I2047N,I824T,I975M,K1031E,K1148T,K1446R,K2160R,L1014R,L1126H,L11P,L1250P,L1388P,L1430P,L1525P,L1631P,L1729P,L1763P,L1940P,L1970F,L1971R,L2027F,L2035P,L2060R,L2229P,L2241V,L244P,L541P,L686S,L797P,M1733T,M280L,M546L,M708V,N1799D,N1805D,N247S,N380K,N58K,N965S,N96D,N96H,P1314T,P1329L,P1380L,P1486L,P1776L,P1780A,P1948L,P309R,P68L,P68R,P940R,Q1513R,Q1703K,Q190H,Q635K,Q636H,Q957R,R1055W,R1097C,R1108C,R1108H,R1108L,R1129C,R1129L,R1443H,R1489S,R1517S,R1640Q,R1640W,R1705L,R1820P,R1843W,R1898H,R18W,R2030Q,R2038W,R2077G,R2077W,R2106C,R2107C,R2107H,R2107S,R212C,R2139W,R2149L,R220C,R2263L,R226L,R24H,R333W,R508C,R511H,R537C,R572P,R572Q,R602Q,R602W,R653C,R943W,S100P,S1063P,S1071L,S1642I,S1689P,S1696N,S1736P,S206R,S2255I,S336C,S445R,S489N,S752I,S765N,S765R,S974P,T1019A,T1019M,T1112N,T1253M,T1463P,T1463S,T1519M,T1526M,T1537M,T300N,T716M,T897I,T901A,T959I,T971N,T972N,T977M,V1072A,V1429A,V1433I,V1482A,V1693I,V1884E,V1896D,V1921M,V1998I,V2042I,V2050L,V30L,V552I,V643G,V643M,V767D,V77E,V77M,V849A,V931M,V935A,V989A,W1408L,W1408R,W1724C,W339G,W821R,Y1139C,Y1652D,Y2071F,Y340D" "1,0,0,0,1,1,1,1,0,1,0,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,0,0,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,0,0,0,1,1,1,1,1,1,0,1,0,0,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,0,0,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,0,0,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,1,1,1" 24 310 pmd10.2;sw2329;spmut1024;dbsnp12241 KAPCA_HUMAN;NP_002721.1 "L41V,L50H,L50P,R46Q,S264C" "0,0,0,0,0" 5566 8633 pmd100.1;sw2901;dbsnp13534 CDD_HUMAN;NP_001776.1 "A70T,K27Q,P139R,T128M,V115M" "0,0,0,0,0" 978 13993 pmd1013.1;spmut1642;dbsnp9409 PSME3_HUMAN;NP_005780.2 "L4V,Q9E" "0,0" 10197 11554 pmd1017.1;pmd1018.2;spmut1777;dbsnp15177 RING2_HUMAN;NP_009143.1 D175N 0 6045 9984 pmd1019.2;sw5011;dbsnp2758 OBF1_HUMAN;NP_006226.2 "A199G,A246V,G86S,Q194R,T141A,T61A,Y123H" "0,0,0,0,0,0,0" 5450 11779 pmd1021.2;sw4388;spmut1615;dbsnp13546 PRDM2_HUMAN;NP_036363.2 "A1093V,A258T,C334Y,C916Y,D1123V,D253E,D283E,D284E,D969Y,H1492Y,H1612P,K1597R,L1611Q,M725V,M805I,N1598K,N439D,P1547T,P1578L,P949A,P985S,Q363L,S1024T,S1562L,S450N,S777T,T534S,T91S,T941I,V1085A,V993I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7799 621 pmd1022.3;pmd1023.4;pmd1024.5;pmd1025.6;sw4239;spmut508 DHX9_HUMAN I894V 0 1660 1230 pmd1026.1;pmd1027.1;dbsnp6230;dbsnp6231;dbsnp6232;dbsnp6233 RNAS1_HUMAN;NP_937875.1;NP_002924.1;NP_937878.1;NP_937877.1 "E153D,G21D,N84I,R126W,V80L,Y120H" "0,0,0,0,0,0" 6035 13793 pmd1028.1;sw914;dbsnp19659 RNH1_HUMAN;NP_002927.2 "L4F,S96C" "0,0" 246243 11171 pmd1034.1;sw12028;dbsnp27598 RA54B_HUMAN;NP_036547.1 "A516T,C207G,D418Y,D630V,D80V,D880G,D97H,H824R,I534V,I778V,I899V,K241T,L30V,M314L,M314V,N593S,N600S,P39L,P91L,P98L,Q782R,S112P,S83C,S83G,T610P,T688I,V146I,V196I,V679L,V703A" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25788 2558 pmd1035.1;pmd1036.3;sw9482;spmut1698;dbsnp1818 RAD9A_HUMAN;NP_004575.1 "C3F,D69N,E130A,G315S,H239R,I369F,L71Q,M307T,N233D,Q273R,R172C,R179H,S100A,S140L,V261I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5883 8769 pmd1043.1;pmd1044.1;sw3875;spmut1704 RAN_HUMAN R95I 0 5901 12605 pmd1050.2;pmd1051.4;pmd2873.2;spmut1707;dbsnp10013;dbsnp10015 RARA_HUMAN;NP_000955.1;NP_001138773.1 "G12A,T43S" "0,0" 5914 7357 pmd1052.1;sw3145;dbsnp16965 S19A1_HUMAN;NP_919231.1 "A558V,D522N,D56H,D56N,E228D,E62K,G572D,H27R,I417T,L338F,R26W,R456Q,S389T" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6573 5254 pmd106.2;pmd868.1;pmd869.2;pmd4329.1;sw2277 NCPR_HUMAN "D252N,R551Q" "0,0" 5447 4267 pmd1066.2;pmd1067.3;pmd2637.1;pmd2638.1;pmd2639.1;pmd2640.1;pmd2641.1;pmd2642.1;pmd2643.1;pmd2644.1;pmd2645.1;pmd2646.1;pmd2647.1;pmd2648.1;pmd2649.1;pmd2650.1;pmd2651.1;pmd3124.1;pmd4237.2;sw2414;spmut1846;dbsnp28595 RXRA_HUMAN;NP_002948.1 "A327S,A398V,I318V,M254I,P22L,P261L,S336I,S380C,V101I" "0,0,0,0,0,0,0,0,0" 6256 6094 pmd1068.1;pmd1069.1;dbsnp15200 RXRG_HUMAN;NP_008848.1 "S336I,V246I" "0,0" 6258 6094 pmd1074.2;sw10930;spmut1761;dbsnp13560 RHBL2_HUMAN;NP_060291.2 "A40V,L273M,M20T,M9L,R59Q,V190G" "0,0,0,0,0,0" 54933 10791 pmd1079.2;pmd1080.3;pmd1081.4;sw1004;spmut490;dbsnp2650;hgmd0613_1979 DEAF1_HUMAN;NP_066288.2 "A545G,A545V,E186V,E202D,E356H,E449K,E498K,G107V,G396S,H479L,I228S,K191I,K191N,M243V,M560I,Q367H,Q468H,Q542H,R218K,R530L,S364N,T526N,T547S,V370I,V370L,V442A,Y397F" "1,1,1,1,1,1,1,0,0,1,1,1,1,0,0,1,1,1,1,1,1,1,0,0,1,1,1" 10522 5614 pmd109.1;pmd682.1;sw1744;spmut535;dbsnp27614 DPOLB_HUMAN;NP_002681.1 "E71G,G144A,L259S,P242R,R137Q,Y271C" "0,0,0,0,0,0" 5423 10006 pmd1091.1;pmd1092.2;sw2579;dbsnp18018 SP100_HUMAN;NP_003104.2 "A414V,A811T,C309R,E159G,E699G,F734L,L464I,L49F,M433L,M433V,R292Q,R449C,R784C,S471P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6672 2696 pmd1097.1;pmd1098.2;dbsnp14917 ELK4_HUMAN;NP_001964.2 "N29S,T240I,T411I,V313I" "0,0,0,0" 2005 7922 pmd1099.3;pmd1100.4;sw4094;dbsnp29159 PAX5_HUMAN;NP_057953.1 "A308V,A322T,D2E,G343R,S213L,S213W,V151I" "0,0,0,0,0,0,0" 5079 8770 pmd1103.1;sw4432;dbsnp20281 SEM3B_HUMAN;NP_004627.1 "D397H,E623D,R348C,T415I,V179M" "1,0,1,1,0" 7869 3617 pmd1105.1;sw278;spmut1915;dbsnp25567 SGK1_HUMAN;NP_005618.2 "A342V,K412N,N72I,R383Q,V219I" "0,0,0,0,0" 6446 6199 pmd1110.1;dbsnp22837 GCYB1_HUMAN;NP_000848.1 "H437R,R494Q" "0,0" 2983 4922 pmd1113.1;spmut2012;dbsnp9587;dbsnp9588 SPHK1_HUMAN;NP_001136074.1;NP_001136073.1 "D333N,P317S,P378S,P379L,R199H,R199L,R279H,S266L,V350M" "0,0,0,0,0,0,0,0,0" 8877 7210 pmd1114.2;pmd1811.1;pmd2153.1;pmd2154.1;pmd3476.1;pmd4161.2;pmd4330.1;sw1854;spmut408 CP21A_HUMAN K98R 0 1589 6734 pmd1118.1;dbsnp7851 EF2K_HUMAN;NP_037434.1 "D334E,D584N,D609N,E545D,E636K,G449S,G623S,G681R,H23R,P221L,P75A,Q624R,R186H,R247C,R374H,R493H,R493L,S404R,T291M,Y713C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29904 3827 pmd1122.2;dbsnp4525 EEA1_HUMAN;NP_003557.2 "A1009S,A1184V,A886T,E107Q,E1139K,E506D,E806K,E840K,K1029R,L443V,M905L,N1072K,Q1194E,Q407R,R1262W,R246Q,S1091L,S1154R,S622N,T205I,T853I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8411 963 pmd1124.1;pmd1147.1;sw10653;sws1184;spmut2135 TF7L2_HUMAN K346N 0 6934 4923 pmd1128.2;pmd4537.1;sw1495 TGFB1_HUMAN L10P 0 7040 8792 pmd1132.1;sw3978;dbsnp18184 TSG6_HUMAN;NP_009046.2 "A132T,E134D,I2N,M225I,Q144R,T261I,T50A,Y68H" "0,0,0,0,0,0,0,0" 7130 11321 pmd114.1;pmd115.1;pmd116.1;pmd690.1;pmd691.2;sw1450;sws153;spmut583;dbsnp26187;hgmd0613_1336 EGFR_HUMAN;NP_005219.2 "A1210V,C624F,E519D,E709A,E709K,E734K,G719A,G719C,G719D,G724S,G873E,H1156P,H988P,I646L,L1034R,L747F,L833V,L858M,L861Q,P266R,P848L,Q787R,R521K,R521M,R521T,R675Q,R748P,R962C,R962G,R98Q,S1162N,V592A,V674I,V834L,Y727C" "0,0,0,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,1,0,0,1,0,0,0,0,1,0,0,0,0,0,0,1,0" 1956 4039 pmd1150.1;sw4207;spmut1616;dbsnp14865;dbsnp14866;dbsnp14867;dbsnp14868 PRDX1_HUMAN;NP_002565.1;NP_859047.1;NP_859048.1;NP_001189360.1 "I57T,R62G" "0,0" 5052 11475 pmd1156.1;pmd2342.1;pmd4174.1;pmd4175.1;pmd4176.1;pmd4555.1;dbsnp10512 TYSY_HUMAN;NP_001062.1 "E100Q,F117L,T170S" "0,0,0" 7298 10575 pmd1163.1;pmd4538.1;dbsnp10171 TIMP2_HUMAN;NP_003246.1 T157M 0 7077 12524 pmd1165.1;pmd2234.1;pmd2888.1;pmd3755.1;pmd3920.1;pmd4559.1;sw2050;sws220;spmut2188;dbsnp16385 TOP1_HUMAN;NP_003277.1 "D533G,E517K,G214S,H81Y,M370T,N190D,N296S,N722S,R749Q,T729A" "0,0,0,0,0,0,0,0,0,1" 7150 3472 pmd1166.1;pmd2764.2;sw2246;sws243;spmut2140;dbsnp11092 TFE2_HUMAN;NP_003191.1 "A115T,A424V,A492V,A8S,D63N,G119S,G362D,G385D,G431S,H513Q,K101R,L120P,R477Q,R499L,R499Q,R525W,R527Q,T198A,T300A,V552M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6929 4542 pmd1167.1;dbsnp5362 T2FB_HUMAN;NP_004119.1 "H66R,M186V,P209L" "0,0,0" 2963 11928 pmd1168.1;sw4583;spmut2133;dbsnp24171 TF2H2_HUMAN;NP_001506.1 "I151M,I199T,L145F,M153V,S130T,V236L" "0,0,0,0,0,0" 2966 8678 pmd1169.1;pmd2846.2;spmut2134;dbsnp2460 TF65_HUMAN;NP_068810.3 "D291N,F368L,M313V,Q442H,R278Q,R96L,V199A" "0,0,0,0,0,0,0" 5970 5818 pmd117.1;sw2776;spmut1498;dbsnp6464 PDIA3_HUMAN;NP_005304.3 "A19V,K415R,M284V,N181S,P427L,R344H,R38L,S25F" "0,0,0,0,0,0,0,0" 2923 6558 pmd1190.1;pmd1853.1;pmd1920.1;pmd1939.1;pmd1940.1;pmd2007.1;pmd4563.1;sw1591;spmut2143;dbsnp20577;dbsnp20578 TFR1_HUMAN;NP_003225.2;NP_001121620.1 "D352G,G142S,G420S,L212V,R677H,V605I" "0,0,0,0,0,0" 7037 3517 pmd1197.5;pmd1198.6;pmd1199.7;sw716;dbsnp24940 FRS3_HUMAN;NP_006644.1 "A126T,I119V,P172L,P172S,P221L,P226T,P411S,R229W,R251Q,R315H,R316Q,R392H,S437L,V464M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10817 6805 pmd120.1;pmd677.1;pmd678.2;sw3433;spmut2043;dbsnp22240 ST1E1_HUMAN;NP_005411.1 "D22Y,P253H" "0,0" 6783 10972 pmd1201.1;pmd1202.1;pmd1341.1;pmd4564.1;pmd4565.1;sw3245 TNNT2_HUMAN "I221T,I231T,R139K,S249T" "0,0,0,0" 7139 10907 pmd1209.1;pmd1210.2;pmd1321.2;pmd1326.2;spmut1442;dbsnp15609 P73_HUMAN;NP_005418.1 "E634K,G11R,G11V,P94T,V586M" "0,0,0,0,0" 7161 4268 pmd121.1;pmd122.3;pmd123.4;pmd124.5;pmd125.6;pmd126.1;pmd127.2;pmd128.3;pmd129.4;sw3543;sws423;spmut223;dbsnp30297;dbsnp30298 BMX_HUMAN;NP_975010.1;NP_001712.1 "A214V,E422A,S212T,S284L" "0,0,0,0" 660 4317 pmd1220.1;pmd1971.2;pmd1972.3;pmd2335.1;dbsnp15465 CD3Z_HUMAN;NP_932170.1 "F50L,M96I,Q101L,Q101P" "0,0,0,0" 919 13642 pmd1225.6;sw3229;spmut1091;dbsnp29031;dbsnp29034 KSYK_HUMAN;NP_001167638.1;NP_003168.2 "G335D,G5S,I262L,R338K,R45H,R45P" "0,0,0,0,0,0" 6850 4741 pmd1241.2;pmd1243.2;pmd4190.2;pmd4193.2;sw3147;dbsnp27143 VIPR2_HUMAN;NP_003373.2 "A173T,A39T,C362Y,F410S,I21V,L235F,L264F,R404G,R412H" "0,0,0,0,0,0,0,0,0" 7434 7799 pmd1244.1;pmd1245.1;pmd3516.1;pmd3517.1;pmd3655.1;pmd3656.2;pmd3706.1;dbsnp10173 DUS3_HUMAN;NP_004081.1 N74S 0 1845 13257 pmd1250.1;pmd1251.1;dbsnp13254 VAMP4_HUMAN;NP_003753.2 "K54R,Q108R,Q68P" "0,0,0" 8674 14068 pmd13.1;pmd14.1;pmd282.1;pmd2304.1;pmd2305.1;pmd2904.1;pmd2937.1;pmd3488.1;pmd3703.1;pmd3766.1;pmd3767.2;pmd3789.1;pmd4087.1;pmd4088.1;pmd4229.2;pmd4284.1;pmd4285.2;sw2281;spmut1225 MGMT_HUMAN "E166D,E30K,I112V,I143V,K178R,L53F,L84F,P58S,W65C" "0,0,0,0,0,0,0,0,0" 4255 12167 pmd1314.1;pmd1315.2;pmd1317.2;pmd4223.1;sw4825;spmut1322;dbsnp17597 NCF4_HUMAN;NP_000622.2 "A304E,L147I,P17L,R105Q,R153H,R202Q,R275S,T216M,T85N,V160M" "0,0,0,1,0,0,0,0,0,0" 4689 9698 pmd1337.1;pmd2091.1;pmd2301.1;pmd2826.1;pmd2827.1;pmd3231.1;pmd3232.1;sw1682;dbsnp23480 IL4_HUMAN;NP_000580.1 "A118G,A118V,C27R" "0,0,0" 3565 13854 pmd1359.1;pmd3969.1;sw2163;dbsnp12857 3BHS1_HUMAN;NP_000853.1 "D242N,E60G,E95Q,F286L,G178S,G40R,G90S,I79V,K37N,K70N,L56V,P118S,P118T,R21H,R279H,R71I,T367N,T54I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3283 9131 pmd1374.2;sw11279;spmut113;dbsnp29815 APEX2_HUMAN;NP_055296.2 "E118A,G11E,H269Y,M418V,N392H,R141C,R141W,R327C,R452W,V279L" "0,0,0,0,0,0,0,0,0,0" 27301 6340 pmd1389.1;pmd1390.2;pmd1391.3;pmd1392.4;sw399;dbsnp28714 AQP7_HUMAN;NP_001161.1 "A100T,A153T,G207S,G264S,G6R,G75V,K63T,L231P,L38V,N194K,P227L,Q145E,R234S,R87C,R9W,S216Y,T279I,V152F,V300I,Y266S,Y64F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 364 9849 pmd1395.2;pmd1396.3;pmd2219.1;pmd2220.1;pmd2938.1;pmd3992.1;pmd3993.2;pmd3994.1;pmd4304.1;sw2215;spmut146 ARSA_HUMAN "A18D,A212P,A212V,A224V,A314T,A464V,A469G,C156R,C172Y,C294Y,C300F,C489G,D152Y,D169N,D255H,D281Y,D29N,D30H,D335V,D381E,E253K,E307K,E312D,E382K,F219V,F247S,F356V,G119R,G122S,G154D,G245R,G293D,G293S,G308D,G308V,G309S,G325S,G32S,G86D,G99D,G99V,H138D,H227Y,H397Y,I179S,K302N,K367N,L135P,L181Q,L298S,L428P,L52P,L68P,L76P,N282S,N440S,P136L,P136S,P148L,P155L,P155R,P167R,P191T,P231T,P377L,P425T,P426L,P82L,P94A,Q153H,Q190H,R143G,R217H,R244C,R244H,R288C,R288H,R311Q,R370Q,R370W,R384C,R390Q,R390W,R496H,R84Q,R84W,S250Y,S295Y,S406G,S95N,S96F,S96L,T274M,T286P,T304M,T327I,T391S,T408I,T409I,W193C,Y201C,Y306H,Y376N,Y429S" "1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1" 410 6476 pmd140.2;pmd2112.1;pmd2148.1;pmd2343.1;pmd2987.1;pmd3134.1;pmd3158.1;pmd3159.2;pmd3550.1;pmd3551.1;pmd3629.1;pmd3630.1;pmd3899.2;pmd4322.4;sw2145;dbsnp12849 TF_HUMAN;NP_001984.1 "A40T,D93G,G281E,I145V,I54V,P291S,R163W,T36A,T49A" "0,0,0,0,0,0,0,0,0" 2152 10971 pmd1400.2;sw1449;sws152;spmut30;dbsnp28515 ABL1_HUMAN;NP_005148.2 "E197K,G706S,G706V,G843W,K247R,L140P,N664S,N670S,P806L,P810L,P900S,R473Q,S1115T,S43N,S968P,S972L,T610I,T852P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25 1473 pmd1413.1;sw2784;spmut1265;dbsnp20482 MPIP1_HUMAN;NP_001780.2 "E64Q,I131V,R182G,R182W,S279P,S88F" "0,0,0,0,0,0" 993 6223 pmd1415.1;pmd1416.1;pmd1417.2;spmut443;dbsnp19347;hgmd0613_1069 CXCR4_HUMAN;NP_003458.1 "I53L,S46C" "0,0" 7852 9529 pmd1431.1;dbsnp22553 DCK_HUMAN;NP_000779.1 "A119G,A138V,I24V,P122S,S8R" "0,0,0,0,0" 1633 11697 pmd1432.1;pmd1620.1;pmd1621.1;pmd1622.2;pmd1623.3;pmd1734.1;pmd1735.1;pmd1736.1;pmd1743.1;pmd1744.1;pmd1745.1;pmd1746.2;pmd1747.1;pmd1748.1;pmd1749.1;pmd1750.1;pmd1751.1;pmd1752.1;pmd1753.1;pmd1754.1;pmd1818.1;pmd1819.1;pmd1987.1;pmd2128.1;pmd2129.1;pmd3426.1;pmd3427.1;pmd3428.1;pmd3515.1;pmd3712.1;sw1434;spmut561;hgmd0613_500 DYR_HUMAN "D153V,L80F" "1,1" 1719 13223 pmd144.3;pmd387.1;pmd509.1;pmd1676.1;pmd1773.1;pmd1774.1;pmd1788.1;pmd1789.1;pmd1790.1;pmd1791.1;pmd1810.1;pmd1840.1;pmd1928.1;pmd1929.1;pmd1930.1;pmd1931.1;pmd1932.1;pmd2005.1;pmd2172.1;pmd2317.1;pmd2318.1;pmd2319.1;pmd2320.1;pmd2399.1;pmd2618.1;pmd2619.1;pmd2620.1;pmd2621.1;pmd2622.2;pmd3489.1;pmd3490.1;pmd3631.1;pmd3632.1;pmd3754.1;pmd3765.1;pmd3909.1;pmd3910.1;pmd3911.1;pmd4179.1;pmd4487.1;pmd4604.1;sw1465;dbsnp27495 TPA_HUMAN;NP_000921.1 "A100V,A146T,A34D,D105N,K282R,L12M,R136S,R164W,R310C,T287M,V280M,Y471H" "0,0,0,0,0,0,0,0,0,0,0,0" 5327 5649 pmd145.1;pmd4035.1;sw1572;dbsnp21697 FIBG_HUMAN;NP_068656.2 "E77G,M410V" "0,0" 2266 7520 pmd146.1;sw2701;spmut817;dbsnp13570 GSTM2_HUMAN;NP_000839.1 "K211N,L191M,S173N,T67A,Y161C" "0,0,0,0,0" 2946 12429 pmd147.2;pmd2051.1;pmd2480.1;pmd3466.1;pmd4356.1;sw1893;spmut816;dbsnp15333 GSTM1_HUMAN;NP_000552.2 "H167N,H167Q,K173N,L159V,L166I,N151D,N85K,N85S,R145W,S210T,V160A" "0,0,0,0,0,0,0,0,0,0,0" 2944 12429 pmd148.3;pmd4357.2;sw4113;dbsnp13934 GSTM4_HUMAN;NP_000841.1 "A104G,A160T,A160V,C78R,I17M,L208V,M135L,N173K,R168C,R202C,R211K,R96H,S2P,T4I,V212M,Y209F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2948 12429 pmd149.1;pmd150.1;pmd155.1;pmd156.1;pmd157.1;pmd731.1;pmd736.1;pmd737.1;pmd2216.1;pmd2225.1;pmd2476.1;pmd2477.1;pmd2478.1;pmd2481.1;pmd2774.1;pmd3464.1;pmd3465.1;pmd3555.1;pmd3556.1;pmd3557.1;pmd3558.1;pmd3559.1;pmd3560.1;pmd3561.1;pmd3562.1;pmd3563.1;pmd3564.1;pmd3812.1;pmd3813.1;pmd3814.1;pmd3817.1;pmd3959.1;pmd3960.1;pmd3961.2;pmd4041.2;pmd4042.1;pmd4044.1;pmd4045.1;pmd4046.1;sw1883;spmut820;dbsnp1261 GSTP1_HUMAN;NP_000843.1 "A114V,D147Y,G169D,T110S" "0,0,0,0" 2950 12738 pmd1492.1;pmd1493.1;pmd1494.1;pmd3356.1;pmd3359.2;sw1490;sws158;spmut1713;dbsnp4304 RASK_HUMAN;NP_203524.1 "M189L,Q61H" "0,1" 3845 12213 pmd1497.1;pmd1519.1;pmd1520.1;pmd1521.1;sw1523;sws159 IFNA2_HUMAN "A6D,H57R,K46R" "0,0,0" 3440 13072 pmd15.1;sw2741;dbsnp17255 AA2AR_HUMAN;NP_000666.2 "A50V,D402E,G147S,G392R,N144K,R300H" "0,0,0,0,0,0" 135 8328 pmd1501.1;pmd1502.1;pmd1525.1;pmd3225.1;sw1522 IFNA1_HUMAN V10A 0 3447 13072 pmd152.1;pmd153.1;pmd154.1;pmd732.1;pmd733.1;pmd734.1;pmd1264.1;pmd3467.1;pmd3554.1;pmd3711.1;pmd4040.1;pmd4043.1;pmd4319.1;pmd4358.1;pmd4359.2;pmd4360.3;pmd4361.1;pmd4363.1;pmd4364.1;sw1829;spmut814;dbsnp24508 GSTA1_HUMAN;NP_665683.1 "A12V,C112S,I99T,K117Q,K64M,P113Q,Q145K,R155Q,R155W,T19I" "0,0,0,0,0,0,0,0,0,0" 2938 12488 pmd1526.1;pmd1527.1;pmd1652.1;sw1531;dbsnp778;hgmd0613_345 IL2RA_HUMAN;NP_000408.1 "D26H,E231Q,I272T,R88P,T91M,V253I" "0,0,0,0,0,0" 3559 11433 pmd1579.1;pmd1580.1;pmd1581.1;sw1527;sws160;dbsnp29111 IFNB_HUMAN;NP_002167.1 "C162Y,D60E,I166M,L7H,R32S,S34R,Y24H" "0,0,0,0,0,0,0" 3456 13224 pmd158.1;sw1157;spmut190;dbsnp1682;hgmd0613_1610 B3GA3_HUMAN;NP_036332.2 "F204S,G185E,R144W,R277Q,T274N,V15L,V237M" "0,0,0,1,0,0,0" 26229 10007 pmd1582.1;pmd1673.1;pmd1674.1;pmd1675.1;pmd1772.1;pmd1889.1;pmd1890.1;pmd1891.1;pmd1892.1;pmd2008.1;pmd2009.1;pmd2010.1;pmd2349.1;pmd3165.1;pmd3166.1;pmd4539.1;sw1521;spmut2177;dbsnp24905 TNFA_HUMAN;NP_000585.2 "A94T,H52N,K87T,P193S,P84L,V226I" "0,0,0,0,0,0" 7124 12269 pmd16.1;pmd572.1;pmd2929.1;pmd2930.1;pmd4272.1;sw2835;sws319;dbsnp15203;dbsnp15204 AA1R_HUMAN;NP_001041695.1;NP_000665.1 "A151V,A39V,A43S,N212S,P261Q,R105H,S50P,V118L,V53M" "0,0,0,0,0,0,0,0,0" 134 10234 pmd161.1;pmd743.2;pmd1280.2;pmd3798.2;sw1624;spmut771;dbsnp12982;dbsnp12983;dbsnp12986;hgmd0613_555 GLCM_HUMAN;NP_001005741.1;NP_000148.2;NP_001005742.1 "A129T,A175E,A215D,A229E,A229T,A348V,A357D,A380T,A485P,A495P,C381G,C55S,D166V,D179H,D354H,D419A,D419H,D419N,D438N,D438Y,D448H,D448V,D482N,D513Y,D63N,E365K,E388K,E427K,E80K,F252I,F255Y,F290L,F298L,F436S,F450I,F456V,F76V,G152E,G228V,G232E,G234E,G234W,G241E,G241R,G304D,G364R,G416S,G428E,G429R,G460D,G517S,G85E,H201P,H294Q,H350R,H490R,I158S,I158T,I200N,I200S,I441F,I441T,K118N,K13R,K196Q,K237E,K342I,K452Q,K464E,K46E,L213F,L224F,L303I,L363P,L410V,L483P,L483R,L500P,L509P,M162V,M400I,M455V,M92T,N156D,N227K,N227S,N409S,N409T,N421K,N431I,N435T,N501K,P161L,P161S,P198L,P198T,P217S,P221L,P221T,P305R,P328L,P426L,P430L,P440L,P454R,R159Q,R159W,R170C,R170L,R209C,R209P,R296Q,R324C,R324H,R368H,R392G,R392W,R398Q,R502C,R502P,R534C,R535C,R535H,R83C,R83S,R87Q,R87W,S146L,S235P,S276P,S310G,S310N,S403T,S405G,S405N,T173I,T173P,T270R,T362I,T408M,T530I,T82I,V230E,V230G,V391L,V414L,V433L,V437F,V437L,V497L,V54L,W223R,W351C,W417G,W432R,Y244C,Y251H,Y343C,Y352H,Y402C,Y451H,Y457C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,0,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" 2629 6039 pmd163.1;pmd164.1;pmd4378.1;pmd4379.1;pmd4380.1;pmd4381.2;pmd4382.1;pmd4383.1;pmd4384.1;dbsnp8140 GLO2_HUMAN;NP_001035517.1 "G207R,R162W,R184H,S71L,V119M,V130A,V17L,V242A,V248L,V67I" "0,0,0,0,0,0,0,0,0,0" 3029 10698 pmd1678.1;pmd1679.1;pmd1787.1;pmd2348.1;sw1494;dbsnp18937 TGFA_HUMAN;NP_003227.1 "R127Q,R139W,T27M,V109M" "0,0,0,0" 7039 13715 pmd1696.1;pmd1697.1;pmd1698.1;pmd1699.1;pmd1700.1;pmd1701.2;pmd1702.3;pmd1703.1;pmd1757.1;pmd1758.2;pmd1907.1;pmd1908.2;pmd1909.1;pmd1910.1;pmd1911.1;spmut714;dbsnp6239 FOS_HUMAN;NP_005243.1 "I123V,K176N,P233A,R287C" "0,0,0,0" 2353 8969 pmd1704.1;pmd1705.1;pmd2508.1;pmd3047.1;pmd3048.1;pmd3049.1;pmd3542.1;sw1546 1A02_HUMAN "A173T,A260E,A65G,D54N,E190D,H98D,M162K,Q67R,V119L,Y123C,Y123F" "0,0,0,0,0,0,0,0,0,0,0" 3105 7735 pmd171.4;spmut906;dbsnp5872 HS90A_HUMAN;NP_005339.3 "F20L,G697S,K279M,K564E,L89F,M521K,M521T,N306H,R173K,V586A" "0,0,0,0,0,0,0,0,0,0" 3320 2876 pmd174.1;pmd764.1;pmd3042.1;pmd4057.1;pmd4393.1;sw1899;dbsnp17466 HMOX1_HUMAN;NP_002124.1 "A279V,A88D,D7H,E120D,P106L,P193S,P266L,Q152H,R113H,R237G,R262C,R269Q,R85C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3162 11134 pmd1769.1;pmd1977.1;pmd2030.1;pmd2092.1;pmd2231.1;pmd2302.1;pmd2303.1;pmd2828.1;pmd2829.1;pmd2903.1;pmd3234.1;pmd3235.1;pmd3236.1;sw1702;spmut960;dbsnp26150 IL6_HUMAN;NP_000591.1 "D162E,D162V,L119P,P31T,P32S" "0,0,0,0,0" 3569 12692 pmd178.2;spmut963;dbsnp9840 IMB1_HUMAN;NP_002256.2 "D71N,P70A" "0,0" 3837 2728 pmd1785.1;pmd1786.1;pmd2139.1;pmd2308.1;pmd2309.1;pmd2843.1;pmd2844.1;pmd3259.1;pmd3260.1;pmd3261.1;pmd3262.2;pmd3263.3;pmd3527.2;pmd3528.1;pmd3695.3;sw1554;dbsnp17912;dbsnp17913;dbsnp17914 MYG_HUMAN;NP_005359.1;NP_976311.1;NP_976312.1 "E55K,K134N,R140Q,R140W" "0,0,0,0" 4151 13827 pmd1794.1;pmd1984.1;pmd2118.1;sw1699;dbsnp18199 PPB1_HUMAN;NP_001623.3 "A138V,A427T,A51P,D195N,E37Q,E451G,G402D,I89L,L77I,M232I,P25L,P308L,R188S,R226Q,R231P,R263H,R272H,R405Q,R442W,S192W,S244G,T104P,V196M,V412I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 250 6052 pmd1814.1;sw1655;sws172;spmut618;dbsnp8774 ERBB2_HUMAN;NP_004439.2 "A1216D,A386D,A497T,D1058A,D808E,E79A,E930D,G1015E,G152A,I654V,I655V,L768S,P1170A,P1207L,P489L,R1161Q,R47H,R536Q,W452C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2064 1267 pmd1815.1;pmd1816.1;pmd1817.1;pmd3072.1;pmd3073.2;pmd3074.1;pmd3075.1;sw1516 NPY_HUMAN "L22M,L7P" "0,0" 4852 14691 pmd182.2;pmd475.1;pmd4409.1;sw2038;dbsnp7456 ITAM_HUMAN;NP_000623.2 "A858V,F1037L,M441T,P1146S,R246Q,R77H,T227M" "0,0,0,0,0,0,0" 3684 1518 pmd1827.1;pmd3418.1;pmd4313.2;sw2002;hgmd0613_80 CP2D6_HUMAN "A237S,A300G,A85V,E155K,E410K,E418K,F120I,G373S,G42R,H324P,H478Y,I297L,I369T,L231P,P469A,R26H,R28C,R296C,R329L,R343G,R365H,S311L,T107I,V11M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1565 6708 pmd184.1;pmd789.1;pmd3221.1;pmd3222.2;pmd4377.2;pmd4410.1;pmd4415.1;sw2322;spmut995 ITA2_HUMAN K534E 0 3673 1476 pmd1841.1;pmd1854.1;pmd1855.1;sw1913;sws202;spmut1473;dbsnp13341;hgmd0613_798 PARP1_HUMAN;NP_001609.2 "A188T,A828V,A898S,A898T,D914G,F54L,G161V,K352N,K664R,K940R,L1013M,L181F,N424S,P377S,Q150H,R847H,S383Y,T632M,T824A,V219A,V334I,V408G,V762A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 142 2051 pmd1843.2;pmd2513.1;pmd3116.1;spmut1628;dbsnp25723;dbsnp25724 PRL_HUMAN;NP_000939.1;NP_001157030.1 "K9E,R117Q,R153W,R71Q,S90F" "0,0,0,0,0" 5617 12384 pmd1847.1;pmd2239.1;pmd2240.1;sw1429 ADH1B_HUMAN R48H 0 125 8715 pmd185.1;sw1851;dbsnp3804 ITA5_HUMAN;NP_002196.2 "A1035T,A495T,F917C,G339R,H827Y,P816S,Q421H,Q615K,Q951H,R585I,R634Q,T865M" "0,0,0,0,0,0,0,0,0,0,0,0" 3678 1900 pmd1862.1;pmd1863.1;pmd1864.1;pmd3469.1;sw2216;spmut191;dbsnp28358 B4GT1_HUMAN;NP_001488.2 "A259G,H257R,L298V,R21W" "0,0,0,0" 2683 8570 pmd1881.1;sw1563;spmut1125;dbsnp14436;hgmd0613_2377 LMNA_HUMAN;NP_733821.1 "E578V,G602S,G608S,G638R,R343Q,R582H,R624H,R644C,S573L" "1,1,1,0,1,1,1,1,1" 4000 4433 pmd1895.1;dbsnp16823 SLPI_HUMAN;NP_003055.1 "M119I,M119V" "0,0" 6590 14209 pmd1906.1;pmd2223.2;pmd3661.1;dbsnp15938;dbsnp15939 RAP1A_HUMAN;NP_002875.1;NP_001010935.1 "N153S,P34L" "0,0" 5906 12837 pmd191.1;dbsnp28272 IL7_HUMAN;NP_000871.1 S96I 0 3574 13412 pmd1919.1;pmd3079.1;sw1605 NU4M_HUMAN "A79P,I132T,M294T,R340H,T109A,T109P,T420A,V313I" "0,0,0,1,1,0,0,1" 4538 7410 pmd192.1;dbsnp5952 KAIN_HUMAN;NP_006206.2 "G337S,R138C,R242W,R398Q,S264L,S83L,Y260H" "0,0,0,0,0,0,0" 5267 7998 pmd193.1;pmd194.2;pmd502.1;pmd503.1;pmd1307.1;pmd1308.2;pmd1309.1;pmd3773.1;pmd3933.4;pmd3934.1;pmd3935.2;pmd4232.1;pmd4233.2;pmd4234.3;pmd4475.1;pmd4476.2;pmd4477.3;pmd4478.4;pmd4479.5;pmd4480.6;pmd4521.1;pmd4610.3;pmd4614.1;pmd4615.1;pmd4616.1;pmd4617.3;sw4419;spmut1455;dbsnp2750 PAK1_HUMAN;NP_002567.3 "L515V,N4S,P168H,V217M" "0,0,0,0" 5058 5420 pmd1938.1;sw4050;dbsnp7328 TFAP4_HUMAN;NP_003214.1 "E202A,Q218H,R220Q" "0,0,0" 7023 9939 pmd1946.1;pmd3080.1;pmd3519.1;pmd4276.1;sw1701;dbsnp23711;dbsnp23712;dbsnp23713;dbsnp23715;dbsnp23717;dbsnp23719;dbsnp23720;dbsnp23722;dbsnp23723 FGF1_HUMAN;NP_001138407.1;NP_001138406.1;NP_000791.1;NP_001138364.1;NP_001244139.1;NP_001244138.1;NP_001244137.1;NP_001244136.1;NP_001244134.1 G21E 0 2246 11148 pmd195.1;pmd196.2;pmd3839.1;dbsnp80 KINH_HUMAN;NP_004512.1 "G291C,I924V,R894C,S527L,V61M" "0,0,0,0,0" 3799 1971 pmd1951.1;spmut942;dbsnp22340 IF4E_HUMAN;NP_001959.1 D127N 0 1977 11961 pmd1953.1;pmd2125.1;pmd3893.1;pmd3894.2;sw1777;spmut259;dbsnp27344 CAH3_HUMAN;NP_005172.1 "A232T,G154A,I250V,L19V,V31I" "0,0,0,0,0" 761 11646 pmd1969.1;pmd1970.1;pmd2036.1;pmd2037.1;pmd2038.1;pmd2284.1;pmd2285.1;pmd2286.1;pmd2287.1;pmd2809.1;pmd2810.1;pmd2812.2;pmd3575.1;sw1518;dbsnp1623;dbsnp1624 IGF2_HUMAN;NP_001007140.2;NP_000603.1 "E147K,K120N,K180N,K7N,P173Q,R156H,S20L" "0,0,0,0,0,0,0" 3481 12203 pmd1980.1;pmd2605.1;dbsnp4792 MPRD_HUMAN;NP_002346.1 "R79Q,V251L" "0,0" 4074 11322 pmd1994.1;pmd2324.1;pmd2325.1;dbsnp27145 PDGFA_HUMAN;NP_002598.4 "E104K,G67R,R144H,R42Q" "0,0,0,0" 5154 12710 pmd20.1;pmd21.2;pmd22.1;dbsnp4780 ARF3_HUMAN;NP_001650.1 I13V 0 377 5496 pmd2006.1;sw1806;spmut2005;dbsnp4409 SP1_HUMAN;NP_612482.2 "G559D,N270S,Q314H,T737A,V311L,Y147C" "0,0,0,0,0,0" 6667 3314 pmd2011.2;pmd2146.1;pmd2147.1;sw1520;dbsnp24470;dbsnp24471 TNFB_HUMAN;NP_000586.2;NP_001153212.1 "C13R,H51P,T125P,T60N" "0,0,0,0" 4049 12847 pmd2013.1;spmut1838;dbsnp25751 RU1C_HUMAN;NP_003084.1 P81T 0 6631 13735 pmd2014.1;sw1905;dbsnp7152 RU2A_HUMAN;NP_003081.2 "D200E,E244D,E53D,G195A,P32S,R234H,S99N" "0,0,0,0,0,0,0" 6627 11798 pmd2024.1;pmd2170.3;pmd2727.1;pmd2782.1;pmd2941.1;pmd3010.1;pmd3429.1;dbsnp25144 GLHA_HUMAN;NP_000726.1 L65I 0 1081 13986 pmd2025.1;pmd2026.1;pmd2453.1;pmd2942.1;pmd2943.1;pmd2944.1;sw1506;dbsnp12806 CGHB_HUMAN;NP_000728.1 "D137A,F4L,K22R,N97D,P24M,R28W,R30H,S147C,T18A,T35I" "0,0,0,0,0,0,0,0,0,0" 1082 13225 pmd2031.1;pmd3233.1;pmd3601.1;pmd3602.1;dbsnp22723 IL8_HUMAN;NP_000575.1 H45R 0 3576 14657 pmd2032.1;pmd2086.2;pmd2291.1;pmd2292.1;pmd3226.1;sw1528;dbsnp4578 IFNG_HUMAN;NP_000610.2 "G54D,K29Q,R160Q" "0,0,0" 3458 13607 pmd204.1;sw2445;dbsnp7410 ITAL_HUMAN;NP_002200.2 "A745V,A913T,F521V,G1097S,G1153S,P825L,P837S,Q746K,R1020H,R144H,R214W,R568W,R791T,S808N,V1094L,V1094M,V615M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3683 1504 pmd2045.1;sw1538 IGHG1_HUMAN "D239E,K97R,L241M" "0,0,0" 101930374 9033 pmd2047.1;sw1643 2B11_HUMAN "Q178H,Q253E,T210I" "0,0,0" 3123 11408 pmd2054.1;pmd2055.1;dbsnp3106 ADX_HUMAN;NP_004100.1 "G143A,I130V,V85A" "0,0,0" 2230 13276 pmd2067.1;dbsnp12639 FBRL_HUMAN;NP_001427.2 "R24H,R74W,S126L" "0,0,0" 2091 10362 pmd2076.1;pmd3472.1;sw1513;dbsnp17974 GLUC_HUMAN;NP_002045.1 A115V 0 2641 13353 pmd2099.1;sw2144;spmut1419;dbsnp17590 ONCM_HUMAN;NP_065391.1 "I130M,P141L,P141R,R116H,R170G,R170W,R207W,T9M" "0,0,0,0,0,0,0,0" 5008 11860 pmd2106.1;pmd2705.1;pmd3378.1;dbsnp22341 ANXA5_HUMAN;NP_001145.1 "A176V,I279T,I81T,P87R,R245Q,V141M,V209M,V272I" "0,0,0,0,0,0,0,0" 308 4347 pmd2109.1;pmd2868.1;pmd4432.1;pmd4433.2;dbsnp25776 SRF_HUMAN;NP_003122.1 "D500N,Q474H" "0,0" 6722 6500 pmd2119.1;pmd3375.1;pmd3376.1;pmd3984.1;pmd4291.1;dbsnp29368 ANXA1_HUMAN;NP_000691.1 "A271T,A279S,G320D,Q79H" "0,0,0,0" 301 9504 pmd2132.1;pmd2472.1;pmd2562.1;pmd2563.1;pmd2564.1;pmd2565.1;pmd2566.1;pmd3023.1;sw1530;dbsnp26618 EPO_HUMAN;NP_000790.2 "D70N,G84R,P114L,P149Q,R166C,S147C" "0,0,0,1,0,0" 2056 13118 pmd2136.2;pmd2489.1;pmd2490.1;pmd2491.2;pmd2593.1;pmd4427.1;sw1922;spmut1122;dbsnp4442 LKHA4_HUMAN;NP_000886.1 "A94T,E481D,G331R,I4T,V604A,Y131H" "0,0,0,0,0,0" 4048 5008 pmd2138.1;pmd3138.1;pmd3846.1;pmd3847.2;pmd4443.1;pmd4444.1;spmut463;dbsnp25667 DCAM_HUMAN;NP_001625.2 Q261E 0 262 10033 pmd214.8;sw3253;sws379;dbsnp23836 MK09_HUMAN;NP_002743.3 "A246T,G268A,R366I,S12G,T401A" "0,0,0,0,0" 5601 7329 pmd2140.1;pmd2326.1;sw1491;dbsnp17281 PDGFB_HUMAN;NP_002599.1 "G53R,I88V,P52L,Q145R,R224W,T212M,T99M" "0,0,0,0,0,0,0" 5155 12092 pmd2143.1;pmd2778.1;sw1774;spmut790 GP1BA_HUMAN A254S 0 2811 4564 pmd2144.1;pmd2145.1;pmd2327.1;pmd2612.1;pmd2613.1;pmd2854.1;pmd3093.1;pmd3094.1;sw1901;sws200;spmut1521;dbsnp23258;hgmd0613_963 PGFRB_HUMAN;NP_002600.1 "A1096V,A6V,E15K,E282K,E485K,G1040V,G738S,I194T,I29F,N718Y,P345S,R197K,R256W,R459H,R502Q,R502W,R507H,R641H,R987Q,S1092L,S180F,S408C,T294P,T464M,V316M,V722F,V722I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5159 1693 pmd2156.2;pmd2203.1;pmd3462.1;pmd3463.1;sw1514;dbsnp16363 SLIB_HUMAN;NP_066567.1 "I36F,I36L,L75F,Y32C" "0,0,0,0" 2691 14551 pmd2158.1;pmd2299.1;pmd3237.1;sw2195;dbsnp17342 IL2RB_HUMAN;NP_000869.1 "A377G,A92D,D391E,E153D,E295D,G271R,G317S,H62Y,I259V,L10V,L130F,L130I,Q340K,R230G,S83F,T197M,V551A,V79M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3560 5819 pmd216.1;pmd217.1;pmd4455.2;sw3149;dbsnp20221 CCR2_HUMAN;NP_001116513.2 "G355E,L119P,L45V,V64I" "0,0,0,0" 729230 9106 pmd2168.1;pmd3129.1;sw2630;dbsnp23141 PAR1_HUMAN;NP_001983.2 "A268P,A335V,A349V,S166G,S384G,S412Y,V257L,V281L,V281M,Y187N,Y381C" "0,0,0,0,0,0,0,0,0,0,0" 2149 8033 pmd2173.1;pmd2176.1;spmut1987;dbsnp11340 SNRPA_HUMAN;NP_004587.1 K80N 0 6626 11226 pmd2177.2;sws194;dbsnp16852;dbsnp16853 RU2B_HUMAN;NP_937863.1;NP_003083.1 Y151C 0 6629 12433 pmd220.1;pmd4436.2;sw2117 CCL4_HUMAN "M12V,P20L,S80T" "0,0,0" 9560 14738 pmd221.1;pmd4438.1;dbsnp17420 MIF_HUMAN;NP_002406.1 "I68T,L59F,N106S,P44L" "0,0,0,0" 4282 14466 pmd2213.1;sw2150 2B17_HUMAN "K5R,R58S,T106N,T262R,V107Y,V236M" "0,0,0,0,0,0" 100507714 11408 pmd2215.1;pmd3470.1;dbsnp17846 LEG1_HUMAN;NP_002296.1 "C3F,C3S,E72K,L97M,R49H,R49L,R74W" "0,0,0,0,0,0,0" 3956 14164 pmd222.1;pmd2957.1;pmd2958.1;sw1612;dbsnp1419 MMP1_HUMAN;NP_002412.1 "D252G,D96N,I191V,Q29P,R262S,R405Q,R54Q,S382P,S406T,T103I,T122M,T23P,T305A,T76P,T83N,V374M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4312 6430 pmd2236.1;pmd2237.1;sw1704;dbsnp10733 ICAM1_HUMAN;NP_000192.2 "D191H,G241R,K155N,K469E,K56M,L64M,P352L,Q210H,R115W,R367C,R397Q,R449Q,R458W,R478W,R505C,S34C,T289M,T446A,V315M,V330M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3383 6097 pmd2270.2;pmd2371.2;pmd2372.1;dbsnp12678 PO2F2_HUMAN;NP_001193954.1 "S134N,T95M" "0,0" 5452 7018 pmd2272.1;sw1741;dbsnp11321;dbsnp11322 FCER2_HUMAN;NP_001993.2;NP_001207429.1 "A32T,E10K,G218S,G76S,L34R,N269S,P315L,R275C,R284Q,R62W,S316P,V260M" "0,0,0,0,0,0,0,0,0,0,0,0" 2208 10363 pmd2298.1;sw2193;spmut954;dbsnp18422 IL1R1_HUMAN;NP_000868.1 "A124G,E27D,G398R,H510R,K498E,N221S,T344M,V444I,Y202H" "0,0,0,0,0,0,0,0,0" 3554 5559 pmd230.1;sw2230;sws242;spmut1201;dbsnp14756;hgmd0613_927 MCP_HUMAN;NP_002380.3 "C35Y,D266N,K249R,K66N,P165S,P231R,P324L,R59Q,S13F,S240P,T383I,T98A,T98I,V178A,V355G,W216C" "1,0,0,1,1,1,0,0,0,1,1,0,0,0,0,1" 4179 8610 pmd2307.1;pmd3255.1;pmd4454.1;pmd4456.1;spmut289;dbsnp10215 CCL2_HUMAN;NP_002973.1 "A49V,I69V" "0,0" 6347 14658 pmd2314.1;pmd2315.1;pmd2316.2;pmd2849.1;pmd2850.1;pmd2853.1;pmd3266.1;pmd3268.1;pmd3269.1;pmd3270.1;pmd3271.2;sw2627;dbsnp19126 NK1R_HUMAN;NP_001049.1 "A328T,S378L,V253M,Y192H" "0,0,0,0" 6869 7291 pmd2330.1;pmd4112.1;dbsnp9628 KPCA_HUMAN;NP_002728.1 "E586D,L278F,M489V,Q548H,V636I" "0,0,0,0,0" 5578 4097 pmd2334.1;pmd3252.1;sw1830;dbsnp21861 SODE_HUMAN;NP_003093.2 "A58T,A91T,N28S,R231G" "0,0,0,0" 6649 12113 pmd2344.1;pmd2345.1;pmd4558.1;spmut2160;dbsnp30431 TIMP1_HUMAN;NP_003245.1 "M65I,P50S,R192Q,V47M" "0,0,0,0" 7076 12805 pmd2384.1;pmd3201.1;pmd3202.2;sw1629;dbsnp28418 REL2_HUMAN;NP_604390.1 "A141T,D25A,E29D,E30D,G11E,H115Y,K130E,M28K,P145S,P68Q,R134L,S26T,S58R,V12F,V91L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6019 13258 pmd239.1;pmd240.2;pmd241.2;sw1820;sws191;spmut1202 MCR_HUMAN "A241V,C645S,E972G,F826Y,G633R,I180V,L769P,L924P,L979P,N444T,N554S,N770K,P759S,Q776R,R537Q,R659S,S805P,S810L,S815R,S818L" "0,1,1,0,1,0,1,1,1,0,0,1,1,1,0,1,1,1,1,1" 4306 2164 pmd2390.2;pmd3155.1;sw2859 S5A2_HUMAN "A207D,A228T,A49T,E197D,E200K,G115D,G123R,G158R,G183S,G196S,G203S,G85D,H231R,L113V,L224H,L224M,L55Q,P181L,P212R,Q126R,R145W,R227Q,R246Q,R246W,S245Y,V89L,Y235F" "1,1,0,1,1,1,1,1,1,1,0,1,1,0,0,0,1,1,1,1,1,0,1,1,1,0,1" 6716 11815 pmd2402.1;sw3605;dbsnp9048 ACLY_HUMAN;NP_001087.2 "E175D,E523K,I361V,I890F,R127Q,R729Q,Y682C,Y725D" "0,0,0,0,0,0,0,0" 47 1704 pmd2403.1;pmd2838.1;pmd2839.1;pmd3257.1;pmd4261.1;pmd4431.1;dbsnp3179 ACM1_HUMAN;NP_000729.2 "R213Q,T83N" "0,0" 1128 7400 pmd2419.1;pmd3404.1;dbsnp14895 CRP_HUMAN;NP_000558.2 "E103K,G166E,T45M,T59M" "0,0,0,0" 1401 12450 pmd242.1;pmd857.1;pmd4080.1;pmd4081.1;pmd4449.1;pmd4450.1;pmd4451.1;sw1636;spmut2000 SODM_HUMAN "A16V,E66V,G76R,I82T,R156W,S10I" "0,0,0,0,0,0" 6648 12489 pmd2427.1;pmd4113.1;pmd4114.1;dbsnp16695;dbsnp16696 CSK21_HUMAN;NP_808227.1;NP_001886.1 "H236R,I133T,L128F,S217R,S287R,V248F,V346I" "0,0,0,0,0,0,0" 1457 8771 pmd243.1;pmd858.1;pmd859.1;pmd2836.1;sw2478;sws272;spmut103;dbsnp29707 AOFA_HUMAN;NP_000231.1 "E188K,F314V,K311N,K520R,R172Q" "0,0,0,0,0" 4128 6174 pmd2434.1;pmd2435.1;pmd2754.1;sw2492;dbsnp22859 DRD1_HUMAN;NP_000785.1 "A229T,A353V,G11R,K81R,Q443R,R50S,S259Y,T37P,T37R" "0,0,0,0,0,0,0,0,0" 1812 7053 pmd244.2;pmd860.2;pmd2837.2;spmut104;dbsnp30136 AOFB_HUMAN;NP_000889.3 "A72T,E142K,P109L,R197S,T201P,V211A,V31I" "0,0,0,0,0,0,0" 4129 6174 pmd2442.1;pmd3066.1;spmut83;dbsnp5341 AL5AP_HUMAN;NP_001620.2 "E33Q,G140R,H32Q,I118V" "0,0,0,0" 241 12574 pmd2503.1;pmd3603.1;pmd3739.1;pmd4481.1;dbsnp693 LIPP_HUMAN;NP_000927.1 "A276V,G157D,I186T,M414K,P429S,V206I" "0,0,0,0,0,0" 5406 7208 pmd2504.1;pmd2604.1;sw2026;dbsnp1836 PPAL_HUMAN;NP_001601.1 "A250V,A336V,D353E,D365E,F393L,F404L,G257E,R10W,R29Q,S320F,V402I" "0,0,0,0,0,0,0,0,0,0,0" 53 8077 pmd2517.1;sw4259;dbsnp26844 ADCY1_HUMAN;NP_066939.1 "A242V,A940T,E596K,G1062S,P456L,R247W,T721A,V780I,V984M" "0,0,0,0,0,0,0,0,0" 107 1656 pmd2520.1;pmd2931.2;pmd2932.1;sw2069;spmut52;dbsnp21796 ADHX_HUMAN;NP_000662.3 "D167Y,D353E,F246L,L163S,V309I" "0,0,0,0,0" 128 8715 pmd255.1;pmd258.1;pmd1048.1;pmd1049.2;pmd1193.1;pmd1194.1;pmd1195.2;pmd4180.1;sw1656;sws173;spmut1399;dbsnp12863 NTRK1_HUMAN;NP_002520.2 "A107V,G18E,M566T,Q80R,R452C,V238G,V790I" "0,0,0,0,0,0,0" 4914 3238 pmd256.1;pmd257.1;sw3233 KI2L2_HUMAN "A9V,F66Y,R37P" "0,0,0" 3803 7486 pmd2581.1;sw1921;dbsnp6866 FURIN_HUMAN;NP_002560.1 "A43V,A642T,D624N,P169T,R464W,R50W,R745Q,R81C,V109M,V728I,W547R" "0,0,0,0,0,0,0,0,0,0,0" 5045 3256 pmd2586.1;sw1519;spmut749;dbsnp9651 GAST_HUMAN;NP_000796.1 "N39S,P52Q,R3P" "0,0,0" 2520 14631 pmd2587.1;spmut1852;dbsnp18868 S20A1_HUMAN;NP_005406.3 "A351T,K441T,V19M,Y567C" "0,0,0,0" 6574 4276 pmd262.2;sw4770;dbsnp5691 NTCP_HUMAN;NP_003040.1 "F234L,I195L,I223T,I279T,I88T,M319I,R249L,R249Q,R249W,R252H,S267F,S41L,S99L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6554 9678 pmd2624.1;pmd2625.2;pmd2626.1;pmd3051.1;pmd3341.1;pmd3738.1;pmd3840.1;pmd3841.2;sw1723;spmut1106;dbsnp14476;dbsnp14477;hgmd0613_614 LCK_HUMAN;NP_005347.3;NP_001036236.1 "A353V,G201S,P447L,R45Q,S54C,S94N,V28L" "1,0,1,0,0,0,1" 3932 5941 pmd2628.1;sw1768;spmut692;dbsnp6903 FES_HUMAN;NP_001996.1 "D528N,I810V,K612T,M323V,N763S,P290L,P397R,P444L,P466L,Q18K,R246Q,R327Q,R85C,S494L,T332M,V722A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2242 3077 pmd263.1;pmd264.1;pmd265.2;pmd266.1;pmd267.1;pmd268.1;pmd269.2;pmd270.1;pmd271.2;pmd3076.1;pmd3077.1;sw2411;spmut1953;dbsnp14003 SL9A1_HUMAN;NP_003038.2 "D758N,D759N,E617K,H76Y,I288V,I791V,L307F,N682K" "0,0,0,0,0,0,0,0" 6548 3109 pmd2664.1;dbsnp25732 TBP_HUMAN;NP_003185.1 "P137L,Q92H,Q95H,T106A" "0,0,0,0" 6908 9094 pmd2684.1;sw2402;spmut766;dbsnp17529;dbsnp17530;dbsnp17531;dbsnp17532 GGT1_HUMAN;NP_005256.2;NP_001027536.1;NP_038347.2;NP_001027537.1 "A177V,A42T,D361H,D361N,E372K,G87V,I93V,K52E,N419D,P376L,R197Q,R203W,R343H,R497W,S428N,S51L,T117S,T375M,V272A,V435A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2678 5509 pmd2687.2;sws1277;dbsnp22441 LEF1_HUMAN;NP_057353.1 "D85N,E163D,E71Q,M184L,P136L,V145L,V282M" "0,0,0,0,0,0,0" 51176 8881 pmd2690.1;pmd2691.1;pmd2692.2;pmd2842.1;sw1487;spmut1300 MYC_HUMAN "A322V,E39D,G160C,N11S,N86T,P57S,P59A,V170I" "0,1,0,0,1,1,1,0" 4609 7516 pmd2693.1;pmd3162.1;pmd3791.5;sw3881;spmut1691 RAC1_HUMAN "A59T,D63G,F28L,K130R,K133E,N26D,P180S,T108I,T135I,V182E,V93G,V93I" "0,0,0,0,0,0,0,0,0,0,0,0" 5879 11744 pmd2694.1;spmut1771;dbsnp20848 RHOA_HUMAN;NP_001655.1 "A161V,G17A,G17E" "0,0,0" 387 13059 pmd2735.1;pmd2736.1;pmd2737.1;pmd2738.1;pmd2739.1;pmd2740.1;sw1914;dbsnp29774 DPOLA_HUMAN;NP_058633.2 "A335S,D1202H,D308G,D310N,D818G,I180T,K750R,P1243L,P496S,R1336H,R31S,R916W,V332I,Y740H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5422 879 pmd275.1;pmd3850.1;pmd3851.2;pmd4165.1;pmd4166.2;dbsnp21116;dbsnp21117;dbsnp21118;dbsnp21119 NEP_HUMAN;NP_009218.2;NP_000893.2;NP_009219.2;NP_009220.2 "F729S,G225A,K745E,M419L,M419V,M8V,N689K,V345I,Y347C" "0,0,0,0,0,0,0,0,0" 4311 3369 pmd277.1;sw3197;dbsnp28626;hgmd0613_1162 EAA3_HUMAN;NP_004161.4 "A27G,F50Y,I104T,I307T,I481N,S137N,T138M,V361I" "0,0,0,0,0,0,0,0" 6505 5505 pmd278.2;sw2853;dbsnp16264 NTR1_HUMAN;NP_002522.2 "A72V,F205L,F341L,G221S,G301R,G301S,I258V,Q275H,R306C,R323H,R387Q,R387W,R388C,T58I,T67A,V265I,V304I,Y339C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4923 8195 pmd2790.1;pmd2791.1;pmd3720.1;sw2740;spmut964;dbsnp27349 IMPA1_HUMAN;NP_005527.1 "A252V,I109V,I154V,I88V,P39S,T168I" "0,0,0,0,0,0" 3612 10003 pmd2830.1;sw1866;spmut958;dbsnp13573 IL6RA_HUMAN;NP_000556.1 "D358A,I189V,L379F,P308L,P52L,P65L,Q300E,R395W,R451T,S91F,V356A,V385I" "0,0,0,0,0,0,0,0,0,0,0,0" 3570 7234 pmd2831.1;pmd3240.1;sw2620;dbsnp18344 CXCR1_HUMAN;NP_000625.1 "A306T,F211L,G70S,I283F,L158F,M1I,M268L,M31R,P214L,R144C,R150H,R199Q,R279C,R280H,R313H,R333C,R333H,R333L,R335C,R71C,R71H,S276T,S342L,V133M,W95S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3577 9411 pmd2833.1;dbsnp12479 ERD21_HUMAN;NP_006792.1 "L3I,T148P" "0,0" 10945 12541 pmd2858.1;pmd3587.1;dbsnp8570;hgmd0613_1301 PROF1_HUMAN;NP_005013.1 "E117D,E117G,L112M,L112V" "0,0,0,0" 5216 14081 pmd2866.1;sw1867;dbsnp23194 5HT1A_HUMAN;NP_000515.2 "G22S,G273D,G273S,I28V,N300S,P16L,P184L,P250S,R220L,V267M" "0,0,0,0,0,0,0,0,0,0" 3350 8102 pmd287.1;pmd309.1;pmd3590.1;pmd3591.1;pmd3592.1;pmd3593.1;pmd3594.1;pmd3595.1;pmd3596.1;pmd3597.1;pmd3598.1;sw3047;spmut1588;dbsnp4181 PP1G_HUMAN;NP_002701.1 "E184D,F152S,K322E" "0,0,0" 5501 9884 pmd2878.1;sw4007;sws481;spmut2132;dbsnp15626 TF2B_HUMAN;NP_001505.1 "E241D,P19S" "0,0" 2959 10495 pmd2879.1;pmd2880.1;sw2333;dbsnp16352 CEBPB_HUMAN;NP_005185.2 "G195S,K260N" "0,0" 1051 9786 pmd289.1;spmut720;dbsnp5265 FOXO1_HUMAN;NP_002006.2 "A511V,D376H,G586S,N367S,R537H,R554H,S579F" "0,0,0,0,0,0,0" 2308 4528 pmd2892.1;pmd2962.1;pmd2963.1;pmd2964.1;dbsnp12508 C5AR_HUMAN;NP_001727.1 "A164D,E326D,F172Y,L39V,Q145H,R175W,V42F" "0,0,0,0,0,0,0" 728 9647 pmd29.1;sw643;dbsnp29604 RHG06_HUMAN;NP_038286.2 "D791E,E918D,K399T,L494M,P731T" "0,0,0,0,0" 395 2216 pmd2918.1;dbsnp14423;dbsnp14424;dbsnp14425;dbsnp14426 ARF1_HUMAN;NP_001019399.1;NP_001019398.1;NP_001019397.1;NP_001649.1 M110I 0 375 5496 pmd2926.1;pmd3697.1;pmd3698.1;pmd3799.1;pmd3971.1;pmd3972.1;pmd4280.1;dbsnp19664 ACYP2_HUMAN;NP_612457.1 "A4V,I34M,T86N" "0,0,0" 98 14659 pmd2945.1;sw2265;spmut422;dbsnp19590;hgmd0613_2262 CREB1_HUMAN;NP_604391.1 "A46V,D116G,T35A" "0,1,0" 1385 9383 pmd2952.2;pmd2953.1;pmd2954.1;dbsnp181 PP2BB_HUMAN;NP_066955.1 S266F 0 5532 6215 pmd2959.1;sw2089;spmut1052;dbsnp6062 KCRB_HUMAN;NP_001814.2 "I361T,K177R,L360F,S309L,Y269C" "0,0,0,0,0" 1152 8187 pmd298.2;sw4217;dbsnp13565;dbsnp13567 PDE4B_HUMAN;NP_001032418.1;NP_002591.2 "A112G,E396K,L682V,P451S,S703C,T722A" "0,0,0,0,0,0" 5142 2686 pmd3012.1;pmd3013.2;sw1670;dbsnp14683 AT1A1_HUMAN;NP_000692.2 "I580V,N395S,S47I,T841P,V702M" "0,0,0,0,0" 476 1921 pmd304.2;pmd305.1;pmd306.2;pmd307.1;pmd308.1;pmd975.2;sw2976;spmut1523;dbsnp12839 PGH2_HUMAN;NP_000954.1 "E488G,G587R,P428A,R228H,V511A" "0,0,0,0,0" 5743 5087 pmd3043.1;dbsnp23238 HBEGF_HUMAN;NP_001936.1 "H91Q,P43S,S18W" "0,0,0" 1839 12777 pmd3044.1;sw2170;spmut867;dbsnp26434;hgmd0613_462 HGF_HUMAN;NP_000592.3 "A46V,D330Y,D431H,E304K,K43R,S153I,V631M" "0,0,0,0,0,0,1" 3082 3799 pmd3050.1;dbsnp17127 HMGN1_HUMAN;NP_004956.5 "A9T,D43G,P28S" "0,0,0" 3150 14643 pmd3065.1;pmd3987.1;sw1837 APOA_HUMAN M4106T 0 4018 51 pmd3083.1;sw1892;spmut2018;dbsnp23518 SPRC_HUMAN;NP_003109.1 "D219E,E63K,G245R,G53R,N70S,P19S,V94M" "0,0,0,0,0,0,0" 6678 4434 pmd3089.1;pmd3090.1;pmd3091.2;pmd3857.1;pmd4101.1;sw2182;dbsnp13472;dbsnp13473;dbsnp13474;dbsnp13475 PA2GA_HUMAN;NP_000291.1;NP_001155199.1;NP_001155201.1;NP_001155200.1 "D58Y,H19Y,L31F,R143H,R53K,T123M" "0,0,0,0,0,0" 5320 14025 pmd3099.1;pmd3100.1;pmd3101.1;pmd3102.1;pmd3103.1;pmd3104.1;pmd3105.1;pmd3106.1;pmd3107.1;pmd3108.1;pmd3109.1;pmd3110.1;pmd3111.1;pmd3112.1;pmd3113.1;pmd3114.1;pmd3115.1;dbsnp13277;dbsnp13278 CSF1_HUMAN;NP_000748.3;NP_757351.1 "A366T,A531V,G438R,L211F,L408P,M215T,P202L,P202Q,P282T,Q209H,Q385R,S341N,S461G,S496F,T387A,V434L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1435 5777 pmd310.1;pmd2329.1;pmd2332.1;pmd4493.1;dbsnp9116 PDIA1_HUMAN;NP_000909.2 "A144T,D292N,F206V,M495V,R345C,R345G,T442R,Y94C" "0,0,0,0,0,0,0,0" 5034 6499 pmd311.1;pmd530.1;pmd1002.1;pmd3868.1;pmd3942.1;pmd4117.1;sw2346;spmut1656;dbsnp16614 PTN1_HUMAN;NP_002818.1 "A382D,E304K,G381S,K279R,P387L,T165I,V375M" "0,0,0,0,0,0,0" 5770 7850 pmd3137.1;pmd4072.1;spmut1234;dbsnp17909;dbsnp17910 MK01_HUMAN;NP_002736.3;NP_620407.1 T94I 0 5594 8997 pmd3142.1;pmd3143.1;sw1753;dbsnp13240;dbsnp13241 HYEP_HUMAN;NP_000111.1;NP_001129490.1 "A41T,E175K,E44Q,H129Q,H64N,H82Q,K117R,L260P,L452Q,N256K,R112K,R43T,R454Q,R49C,R71H,S195P,S258A,T275A,T396I,T408M,V285L,V310I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2052 7485 pmd3146.1;pmd3147.1;sw1880;dbsnp24225 SRP19_HUMAN;NP_003126.1 "A4T,F15V" "0,0" 6728 14026 pmd3160.1;dbsnp19724 CD28_HUMAN;NP_006130.1 "I14V,L8F,V16I" "0,0,0" 940 12525 pmd3163.1;sw2736;dbsnp20487 T2EA_HUMAN;NP_005504.2 "A231V,D172N,G291D,L51V,M295T,P366S,P369L,R368C,S245F,V390A" "0,0,0,0,0,0,0,0,0,0" 2960 7783 pmd318.1;pmd3834.1;pmd4123.2;pmd4496.1;pmd4497.1;sw2120;spmut1778;dbsnp1339;dbsnp1340;dbsnp1341;dbsnp1342;dbsnp1343;dbsnp1344;dbsnp1345;dbsnp1346 RINI_HUMAN;NP_976323.1;NP_976322.1;NP_002930.2;NP_976318.1;NP_976321.1;NP_976320.1;NP_976319.1;NP_976317.1 "A392T,P170L,P368L,R110C,R143H,R188H,R188P,S213P,S228L,S317L,V73M" "0,0,0,0,0,0,0,0,0,0,0" 6050 7384 pmd3182.1;dbsnp12712 RU17_HUMAN;NP_003080.2 M413L 0 6625 7814 pmd3188.1;pmd3189.1;pmd3190.1;pmd3191.1;pmd3192.1;pmd3193.1;pmd3194.1;pmd3195.1;sw1483;sws156;dbsnp16312 CYTS_HUMAN;NP_001890.1 "A141S,A51T,D36N,E62D,F78V,G17E,L101V,L8Q,N40S,P67L,S21L" "0,0,0,0,0,0,0,0,0,0,0" 1472 13991 pmd32.1;dbsnp9849 AA2BR_HUMAN;NP_000667.1 "A35V,L96F,N43T,R293W" "0,0,0,0" 136 8328 pmd322.1;pmd926.3;spmut1550;dbsnp26689 PK3CG_HUMAN;NP_002640.2 "A795V,D358N,D358Y,G790V,I158M,I643V,N522S,P538L,R18Q,R359H,R477C,S1003G,S442Y,T330M,T535A,T857A,V138M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5294 1700 pmd3220.1;sw3726;dbsnp23107 ITA1_HUMAN;NP_852478.1 "A384T,A410P,E1108G,F839Y,H607D,I961M,K1175N,K328Q,K744R,K991Q,L656F,S1085L,S1121R,S332N,S710F,T480M,T505P,V158M,V670I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3672 1481 pmd3228.1;pmd3736.1;sw2756;spmut268;dbsnp1591;dbsnp1596 CASP1_HUMAN;NP_001244047.1;NP_150634.1 "A384V,I186V,K319R,K37Q,M357L,N263S,N47S,R15H,R221C,R240Q,R45C,S209L,S81R,V61I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 834 8500 pmd324.1;pmd325.1;pmd326.2;pmd327.1;pmd328.1;pmd329.1;pmd330.1;pmd331.1;pmd332.1;pmd333.2;pmd334.3;pmd335.1;pmd336.1;pmd337.1;pmd338.1;pmd339.2;pmd340.1;pmd341.1;pmd342.1;pmd343.1;pmd344.1;pmd345.1;pmd346.1;pmd347.1;pmd348.1;pmd349.1;pmd350.1;pmd351.1;pmd352.1;pmd353.1;pmd354.1;pmd355.2;pmd356.1;pmd357.1;pmd358.1;pmd359.1;spmut1886;dbsnp1237 SDF1_HUMAN;NP_000600.1 A86T 0 6387 14087 pmd3242.1;sw2497;dbsnp6928 FGF7_HUMAN;NP_002000.1 M59T 0 2252 13091 pmd3281.1;dbsnp29353 AMBP_HUMAN;NP_001624.1 "D128E,E192G,G5R,I198T,L233P,R204Q,S51F,T24M,V90D" "0,0,0,0,0,0,0,0,0" 259 9600 pmd3288.1;sw2394;dbsnp14029 VCAM1_HUMAN;NP_001069.1 "G413A,H488R,I716L,K261R,L555V,M18I,N266T,N691S,S318F,T384A,V421I" "0,0,0,0,0,0,0,0,0,0,0" 7412 3706 pmd3352.1;pmd3518.1;sw2287;dbsnp12840 LYAM2_HUMAN;NP_000441.2 "A136S,A21S,C130W,E295K,E421Q,F325L,G416A,H468Y,K296T,K95N,L575F,M31I,P550S,Q257P,R389C,S149R,V253M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6401 5018 pmd3357.1;dbsnp11344 RRAS_HUMAN;NP_006261.1 "D133N,F49L,K121R,V190L" "0,0,0,0" 6237 12566 pmd3405.1;dbsnp25799 NFYA_HUMAN;NP_002496.1 Q150P 0 4800 9727 pmd3432.1;sw920 FCG3B_HUMAN "N82D,S36R" "0,0" 2215 11104 pmd3438.1;sw2220;dbsnp1766;dbsnp1767;dbsnp1768;dbsnp1769;hgmd0613_1813 FOLR1_HUMAN;NP_057941.1;NP_057937.1;NP_000793.1;NP_057936.1 "A170T,N35D,Q72R,R4W,R98W,W160C,W28R" "0,0,0,0,0,0,0" 2348 11758 pmd3453.1;pmd3454.2;pmd4577.1;sw2365;dbsnp22468 GBRB1_HUMAN;NP_000803.2 "H421Q,I429N,K426R" "0,0,0" 2560 6445 pmd3455.3;sw2721;dbsnp7022 GBRB3_HUMAN;NP_000805.1 "G32R,Q173L,R217H,Y324C" "1,0,1,0" 2562 6445 pmd3473.1;sw2977;sws336;dbsnp20274;dbsnp20275;dbsnp20276;dbsnp20277 HRH1_HUMAN;NP_001091682.1;NP_001091683.1;NP_000852.1;NP_001091681.1 "G270E,I196V,K19N,M14I,R326Q,R53Q,R97H,S317C,S363P,V118I,V324I" "0,0,0,0,0,0,0,0,0,0,0" 3269 6883 pmd3480.1;sw2344;sws258;dbsnp26311 IBP3_HUMAN;NP_000589.2 "A32G,A56T,E203K,G234S,H158P,P238A,Q198E,T277I" "0,0,0,0,0,0,0,0" 3486 10946 pmd3484.1;pmd3485.2;sw2886;dbsnp13234 FCG2B_HUMAN;NP_003992.3 "E287A,I232T,P47S,Q83P,T203M,Y205F,Y258D" "0,0,0,0,0,0,0" 2213 10338 pmd3495.1;sw2181;spmut71;dbsnp13593;dbsnp13594;dbsnp13595;dbsnp13596 AK1A1_HUMAN;NP_001189343.1;NP_697021.1;NP_006057.1;NP_001189342.1 "A69V,D136N,E55D,G242D,G51S,N52S,P317S,P324L,R297I,S4F,T304M" "0,0,0,0,0,0,0,0,0,0,0" 10327 10258 pmd3530.1;dbsnp22675 PLF4_HUMAN;NP_002610.1 "C83F,V25M" "0,0" 5196 14599 pmd3538.1;dbsnp22784 PP2BA_HUMAN;NP_000935.1 R73Q 0 5530 6215 pmd3544.1;pmd3545.1;pmd3546.1;sw2659;dbsnp1294 CNTF_HUMAN;NP_000605.1 "E102K,H182R,L23P,N49S,R189C,R19H,R28H,W64C,W64G,Y38C" "0,0,0,0,0,0,0,0,0,0" 1270 12955 pmd3579.1;sw2368;dbsnp19312 IL1RA_HUMAN;NP_776214.1 "A124T,N53S,R127C" "0,0,0" 3557 13365 pmd361.2;sw2702;dbsnp12860 5HT1D_HUMAN;NP_000855.1 "A152S,A366G,A366V,H261Q,R288C,R374W,S265L,T157I,T157N,T241M,T62A" "0,0,0,0,0,0,0,0,0,0,0" 3352 8790 pmd364.1;dbsnp8405 TRADD_HUMAN;NP_003780.1 P193L 0 8717 10604 pmd372.1;pmd373.1;sw589;spmut218 BIRC5_HUMAN K129E 0 332 13626 pmd3740.1;pmd3844.1;sw1884;dbsnp2314 MMP7_HUMAN;NP_002414.1 "C7W,D189E,D200V,E139D,G137D,H143Y,M73I,N51H,P241L,R77H,S101C,T199M" "0,0,0,0,0,0,0,0,0,0,0,0" 4316 11538 pmd375.1;pmd376.2;pmd495.1;spmut1405;dbsnp3082 NXF1_HUMAN;NP_006353.2 "D56N,E583K,E583Q,L214V,T85P" "0,0,0,0,0" 10482 4842 pmd377.3;spmut1407;dbsnp16493 NXT1_HUMAN;NP_037380.1 N112K 0 29107 13046 pmd380.1;pmd381.2;pmd1178.1;pmd1179.3;pmd1180.4;sw3912;spmut822;dbsnp27218 GTF2I_HUMAN;NP_127492.1 "L174V,Q553E,R143Q" "0,0,0" 2969 2116 pmd3806.1;pmd3807.2;pmd4334.1;pmd4335.2;sw2233;dbsnp7424 NQO1_HUMAN;NP_000894.1 "K91Q,M1T,P187S,Q269H,R119P,R139G,R139W,R211C,T16M" "0,0,0,0,0,0,0,0,0" 1728 11390 pmd3818.1;pmd4049.1;sw4151;spmut1111;dbsnp24245 LGUL_HUMAN;NP_006699.2 "C19Y,D121E,E111A,G126V,I128T" "0,0,0,0,0" 2739 13277 pmd3837.1;sw3455;spmut751;dbsnp6495;hgmd0613_778 GATM_HUMAN;NP_001473.1 "I93V,L401P,L401Q,Q110H,T136M" "0,0,0,0,0" 2628 8078 pmd3859.1;pmd3860.2;pmd3861.3;pmd3862.4;pmd3863.5;pmd4611.1;sw4476;dbsnp20391 PLD1_HUMAN;NP_002653.1 "A622S,D1018N,E290Q,F35L,G237C,H621N,I668F,I797M,I797V,I857V,L512F,M369I,P49A,P620L,R165H,R398C,R407Q,R90H,T673M,V1024I,V792L,V820M,Y847C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5337 1803 pmd388.1;pmd389.2;pmd390.1;pmd1134.1;pmd1135.1;pmd1136.2;pmd1137.2;pmd1138.1;pmd1139.2;pmd1140.2;pmd2171.1;pmd2875.1;pmd3167.1;pmd3168.1;pmd3169.1;pmd3170.1;pmd3171.1;pmd3172.1;pmd3833.1;pmd4164.2;sw2283;sws249 TSHR_HUMAN "A553T,A623I,A623V,A647V,A703G,C390W,C41S,C600R,C672Y,D219E,D36H,D410N,D619G,D633A,D633E,D633H,D633Y,D727E,E34K,F197I,F525L,F631C,F631L,G431S,G498S,I167N,I486F,I486M,I568T,I606M,I630L,K183R,K723M,L252P,L467P,L512Q,L512R,L629F,L677V,M453T,M463V,N650Y,N670S,N715D,P162A,P52T,P639A,P639S,Q720E,R109Q,R310C,R450H,R528H,S281I,S281N,S281T,S425I,S505N,S505R,T477I,T632A,T632I,V509A,V597F,V597L" "1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1" 7253 3483 pmd3891.1;sw2203;dbsnp26756 CBPA1_HUMAN;NP_001859.1 "A208T,A341S,A341T,A406V,G166D,H276R,Q202K,Q94R,R2Q,T124I,T232M" "0,0,0,0,0,0,0,0,0,0,0" 1357 7840 pmd3963.1;dbsnp4242 AMPM2_HUMAN;NP_006829.1 "D82V,I120V,K38E,V118L" "0,0,0,0" 10988 7036 pmd3966.1;sw3258;dbsnp5011 S15A1_HUMAN;NP_005064.1 "F28Y,G419A,I631T,I665V,I89T,L548H,N577S,P467S,P537S,R459C,S117N,S117R,S442P,T451N,T601M,V122M,V21F,V21I,V21L,V416L,V450I,Y12C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6564 3993 pmd3990.1;spmut447;dbsnp12629 CYH2_HUMAN;NP_059431.1 A374T 0 9266 8575 pmd40.1;pmd3494.1;pmd3802.1;pmd3803.2;pmd3804.1;pmd3805.1;sw1676;dbsnp3246 ALDH2_HUMAN;NP_000681.2 "A250V,D299N,E337V,E496K,E504K,G287W,I41V,R114W,R95C,V80A" "0,0,0,0,0,0,0,0,0,0" 217 6337 pmd4025.2;pmd4083.2;dbsnp10629 CYB5_HUMAN;NP_683725.1 "R128H,S5A" "0,0" 1528 14177 pmd4026.1;sw1437 COX1_HUMAN "F235S,F305L,F94C,G125D,G224A,I280T,L196I,M273T,S142F,S458P,T10A,T415A,V155L" "0,0,0,1,0,1,1,1,1,1,0,0,0" 4512 6424 pmd4027.1;dbsnp10128 CYH1_HUMAN;NP_004753.1 "I193V,K365E,Q28R,R397Q" "0,0,0,0" 9267 8575 pmd406.1;pmd4172.1;pmd4173.1;sw3100;dbsnp20073 TPO_HUMAN;NP_000451.1 "G116E,G116V,H251Q,L14P,Q235R,R119H,T305M,T344A" "0,0,0,0,0,0,0,0" 7066 9580 pmd409.1;sw861;spmut2168;dbsnp21880 TLR2_HUMAN;NP_003255.2 "A26V,C564Y,E738Q,E768D,F217S,F679I,I197F,I556T,I91V,K630R,L266F,L81P,N729S,N86S,N89D,P631H,R571H,R579H,R677W,R753Q,S40L,S636R,T411I,T491I,T513M,V269L,Y715N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7097 3319 pmd410.2;pmd411.3;pmd412.4;pmd413.3;sw296;spmut2170;dbsnp28732 TLR4_HUMAN;NP_612564.1 "C246S,C306W,D684Y,E474K,F342Y,F443L,F532L,K694R,L385F,M659T,N329S,Q188R,Q510H,Q834H,Q91R,R763H,R763L,R804Q,R804W,S400N,T175A,V310G,Y46C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7099 2964 pmd4100.1;sw2025;spmut1581;dbsnp8530 PNMT_HUMAN;NP_002677.1 "A175T,D158N,L211H,L217Q,N9S,R107C,R112C,R153W,R251W,R254H,S188C,T98A,V84M,W276R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5409 11227 pmd415.1;pmd416.1;pmd417.1;pmd418.1;sw2051;spmut2189;dbsnp9404 TOP2A_HUMAN;NP_001058.2 "A1515S,G1386D,H1499D,H1499Y,P1194R,R1160S,R450Q,R487K,S654I,T1324K,V1097A" "0,0,0,0,0,0,0,0,0,0,0" 7153 704 pmd4181.2;sw4962;sws637;dbsnp6951 NTRK3_HUMAN;NP_001012338.1 "E781K,K768R,L446M,L449V,L560V,Q389H,R138W,R201H,R306C,R306H,R507H,R645C,R678Q,V451I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4916 2965 pmd4201.2;pmd4571.2;sw2408;sws266;spmut2375 WT1_HUMAN L281P 0 7490 6369 pmd4212.1;pmd4213.2;pmd4578.1;dbsnp6934 ACHA7_HUMAN;NP_000737.1 "D153N,E41D,I112V,K214R,R227C,R227H,Y233C" "0,0,0,0,0,0,0" 1139 6116 pmd4245.1;sw1713;sws177;dbsnp7625 KPCB_HUMAN;NP_997700.1 "N298S,P588H,P588R,P665L,S100I,T321M" "0,0,0,0,0,0" 5579 4097 pmd4250.2;sw4525;sws564;spmut178;dbsnp20237;hgmd0613_726 ATR_HUMAN;NP_001175.2 "A1010S,A1972T,C2634Y,D331G,E293G,F926L,G1539S,G2120A,H90Y,I1145V,I1526V,I1753V,I2435V,K297N,K764E,L81F,M211T,M2325I,N1459S,N1612S,P2434A,Q2144R,R1451W,R2008L,R2425Q,R443T,S1142G,S1213G,S1607N,S902P,T1469A,T64A,V2113I,V316I,V959M,Y1087H,Y2132D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 545 202 pmd4268.1;sw654;spmut1463;dbsnp22421 PAPS1_HUMAN;NP_005434.4 "E531Q,L270F,R333C,R445W,S587L,T547M" "0,0,0,0,0,0" 9061 4853 pmd4279.1;dbsnp6270 ACYP1_HUMAN;NP_001098.1 G4E 0 97 14659 pmd4281.1;sw309;spmut64;dbsnp7722 AGRP_HUMAN;NP_001129.1 "A67T,R82H" "0,0" 181 14210 pmd43.1;pmd44.1;pmd2227.1;pmd2241.1;pmd2521.1;pmd2936.1;pmd3496.1;pmd3701.1;pmd3975.1;sw2207;spmut84;dbsnp25890 ALDR_HUMAN;NP_001619.1 "D103V,G204S,H42L,I15F,K90E,L73V,R256K,T288I" "0,0,0,0,0,0,0,0" 231 9824 pmd430.1;pmd1215.1;pmd1216.2;pmd1217.3;pmd1401.2;pmd1402.3;pmd4160.1;pmd4391.1;pmd4392.2;sw1849;sws196;spmut846;dbsnp16471 HCK_HUMAN;NP_002101.2 "A370T,A44T,M105L,N35S,N67S,P46A,P49A,P502Q,P61L,S238L,S98I,T40I" "0,0,0,0,0,0,0,0,0,0,0,0" 3055 5941 pmd431.1;spmut2274;dbsnp12567 UBC12_HUMAN;NP_003960.1 S50I 0 9040 13302 pmd433.1;sw2390;dbsnp18150 UD16_HUMAN;NP_001063.2 "A510P,D258G,D258V,E462D,G307E,L473M,M42V,P175L,P363L,P450L,R184S,R402H,R441C,R90H,S487C,S487F,S70Y,S7A,T181A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54578 6067 pmd435.1;pmd437.1;pmd446.1;pmd447.2;pmd4265.1;sw3070;dbsnp3673 V1AR_HUMAN;NP_000697.1 "A252V,A34T,F133C,G399V,G6S,T398R,Y115C" "0,0,0,0,0,0,0" 552 8196 pmd4352.1;sw1706;dbsnp13574 FABPH_HUMAN;NP_004093.1 "K53I,K53R" "0,0" 2170 14196 pmd4366.1;sw1964;dbsnp17567 GSTT2_HUMAN;NP_000845.1 "A158T,D153N,E147K,E66K,M139I,V118M" "0,0,0,0,0,0" 2953 12028 pmd4370.1;pmd4371.1;sw1752;dbsnp81 LIPG_HUMAN;NP_004181.1 "F224I,G19C,P348T,R248H,R274C,R274H,T161A,V217I" "0,0,0,0,0,0,0,0" 8513 8082 pmd440.1;pmd441.2;pmd1242.1;pmd4091.1;pmd4188.1;pmd4189.1;pmd4191.1;pmd4192.1;sw2893;dbsnp21334 VIPR1_HUMAN;NP_004615.2 "A30V,A54D,G284R,I89T,R341M,R445L,R99S,S205L,W294S" "0,0,0,0,0,0,0,0,0" 7433 7451 pmd4414.1;sw4029 IL9R_HUMAN "E239Q,G331R,R365H,R63K,Y288C" "0,0,0,0,0" 3581 6276 pmd4435.1;sw1980;spmut290;dbsnp8814 CCL3_HUMAN;NP_002974.1 "E78D,G61S,I47T,S69G" "0,0,0,0" 6348 14738 pmd4442.1;dbsnp19696 METK2_HUMAN;NP_005902.1 "A11V,I205V" "0,0" 4144 8676 pmd4452.1;pmd4453.2;spmut1260;dbsnp30619 MOES_HUMAN;NP_002435.1 R81C 0 4478 5094 pmd4460.4;dbsnp2208 ACM4_HUMAN;NP_000732.2 D112G 0 1132 7019 pmd4461.5;dbsnp6638 ACM5_HUMAN;NP_036257.1 "A316T,E412K,G329C,I53F,K428T,L362F,L523M,N293S,P16L,P16S,R382Q" "0,0,0,0,0,0,0,0,0,0,0" 1133 5265 pmd4465.1;sw1607 NU6M_HUMAN "A72V,A74V,G36S,I26M,I33V,I58V,L60S,M63V,M64I,M64V,V31A,Y165C,Y59C" "1,1,1,1,0,0,1,1,1,1,0,0,1" 4541 13470 pmd4482.1;pmd4483.2;sw1623;dbsnp4710 PA21B_HUMAN;NP_000919.1 "A23V,D16A,N89K,N89T,R122H" "0,0,0,0,0" 5319 13944 pmd4517.2;hgmd0613_677 YLA1_HUMAN L334R 1 9056 6398 pmd4526.1;spmut2069;dbsnp29193 STOM_HUMAN;NP_004090.4 "I280T,M239T,M275T,R70H,V126I,V201L" "0,0,0,0,0,0" 2040 11082 pmd453.1;sw4737;dbsnp16238 KCNB1_HUMAN;NP_004966.1 "P613S,P825S,R842H,S647R,S857N,T616N,T616S" "0,0,0,0,0,0,0" 3745 2551 pmd4557.1;sw3326;dbsnp26629 TFPI2_HUMAN;NP_006519.1 "A150T,A85T,D23G,P93L,R132Q,R228Q,R228W,R231Q,V102A" "0,0,0,0,0,0,0,0,0" 7980 12220 pmd4582.2;pmd4583.1;sw1846;spmut55 ADRB1_HUMAN "A26V,A29T,H405Y,R31Q,R389G,R389L,R399H,S49G" "0,0,0,0,0,0,0,0" 153 7055 pmd459.1;sw4951;spmut2415;dbsnp26567;dbsnp26568 ZYX_HUMAN;NP_001010972.1;NP_003452.1 "G193D,G305S,H223L,I511M,K322N,L236I,P311T,P77S,Q420K,R40L,R475C,R489W,V177G,V234L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7791 5521 pmd4608.1;pmd4609.2;sw3613;spmut1113;dbsnp25938 LIMK1_HUMAN;NP_002305.1 "F411L,F580Y,G190A,G207D,H259Q,H614P,I354L,K66T,M209I,P280L,R222Q,R422Q,S247N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3984 4209 pmd461.1;pmd519.1;pmd3442.1;pmd4205.1;pmd4206.1;sw4315 FUT5_HUMAN "P187L,T338M" "0,0" 2527 9107 pmd463.1;sw9855;spmut732;dbsnp5619;dbsnp5620 FUT8_HUMAN;NP_835368.1;NP_835369.1 "A518T,K101Q,L153V,R395C,T267K,T550M" "0,0,0,0,0,0" 2530 5480 pmd472.1;pmd4574.1;spmut92;dbsnp13353 AMYP_HUMAN;NP_000690.1 "G205S,G319R,H230R,R25W,T178S,T99N,V280I" "0,0,0,0,0,0,0" 279 6448 pmd478.1;pmd939.2;pmd1148.2;pmd1281.1;pmd1282.2;sw2958;spmut437;dbsnp20601;dbsnp20602;dbsnp20603 CTNB1_HUMAN;NP_001091680.1;NP_001895.1;NP_001091679.1 "D32A,D32G,D32Y,G34E,G34R,G34V,I35S,M688V,N287S,S23R,S33F,S33L,S33Y,S37A,S37C,S37F,S37Y,S45F,S45P,T41A,T41I" "1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1" 1499 3350 pmd480.1;pmd4217.1;pmd4587.1;pmd4588.1;sw2161;dbsnp27326 ADRB3_HUMAN;NP_000016.1 "A225T,A375T,E248Q,E249K,G276D,R353C,R353G,T265M,T265R" "0,0,0,0,0,0,0,0,0" 155 7055 pmd487.1;pmd658.1;pmd659.1;sw2785;dbsnp16597 MPIP2_HUMAN;NP_068659.1 "A218S,A473V,E548K,P286A,R175Q" "0,0,0,0,0" 994 5403 pmd492.1;pmd4590.1;sw8606;spmut765;dbsnp27482 GGH_HUMAN;NP_003869.1 "A31T,C6R,I38V,I90V,R44H,T151I" "0,0,0,0,0,0" 8836 10431 pmd50.1;pmd51.1;pmd52.2;pmd53.2;pmd54.2;pmd583.1;pmd584.2;pmd585.1;pmd587.1;pmd588.2;pmd1346.1;pmd1985.1;pmd2443.1;pmd2444.2;pmd2445.1;pmd2446.1;pmd2447.1;pmd2448.2;pmd2701.1;pmd2702.1;pmd2747.1;pmd2748.1;pmd2749.1;pmd2750.1;pmd2900.1;pmd2901.1;pmd3363.1;pmd3364.1;pmd3365.1;pmd3366.1;pmd3368.1;pmd3977.1;pmd3978.2;pmd3979.2;pmd3980.1;pmd4286.1;pmd4287.2;sw1986;sws205;spmut93 ANDR_HUMAN "A896T,D528G,F891L,G683A,I672T,K180R,K630T,K717E,K720E,K910R,L54S,L574P,L57Q,L880Q,M266T,P269S,Q112H,Q443R,Q64R,Q670R,Q919R,R846G,S205R,S647N,S791P,T575A,T755A,V715M,V730M,V757A" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1" 367 2494 pmd504.2;pmd824.2;pmd3924.1;pmd4073.1;pmd4222.1;pmd4527.1;pmd4591.1;sw4979;sws642;spmut1240;dbsnp25483 MK14_HUMAN;NP_620581.1 D343G 0 1432 9253 pmd512.1;pmd748.1;spmut812;dbsnp21637 GSK3B_HUMAN;NP_001139628.1 R383Q 0 2932 6945 pmd521.1;sw4672;dbsnp4230 PDE3A_HUMAN;NP_000912.3 "A220V,D12N,D812N,F232Y,G169W,G278R,G302D,H504Q,L206P,P601T,R1095Q,R459Q,S1110L,V193A,V349I,V607L,Y254C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5139 1578 pmd522.2;pmd523.3;spmut2080;dbsnp30571 SUV91_HUMAN;NP_003164.1 A198T 0 6839 8329 pmd527.1;pmd693.1;pmd3071.1;pmd3849.1;pmd4084.1;pmd4337.1;sw2757;sws313;spmut1375 NOS3_HUMAN "Q982L,R112Q,R665H,R885M,V827M" "0,0,0,0,0" 4846 1412 pmd540.1;pmd4459.3;sw2436;spmut42;dbsnp13526 ACM3_HUMAN;NP_000731.1 "A452S,L396M,L431P,Q430R,T451M,V65I" "0,0,0,0,0,0" 1131 5265 pmd548.1;pmd1360.1;pmd1361.1;pmd1362.1;pmd2137.1;pmd2226.1;pmd2230.1;pmd2400.1;sw1917;spmut1129;dbsnp286 LOX5_HUMAN;NP_000689.1 "A308S,A351G,E254K,K656Q,R121P,R121Q,V110F,V56M" "0,0,0,0,0,0,0,0" 240 4324 pmd55.1;pmd1365.1;sw2093;dbsnp21692 ANXA3_HUMAN;NP_005130.1 "A106V,A112G,A112V,E110K,F291S,I219N,I313T,P251L,R288Q,R53Q,S146F,S19N,S305L,V22M,W5S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 306 4347 pmd550.4;sw4131 TAP2_HUMAN "A513S,T665A,V379I" "0,0,0" 6891 4055 pmd560.1;pmd561.2;sw3645;spmut19;dbsnp3506 AAKG1_HUMAN;NP_002724.1 "K329N,M189T,T89S" "0,0,0" 5571 5557 pmd565.1;spmut123;dbsnp5715 ARF6_HUMAN;NP_001654.1 L103M 0 382 5496 pmd573.1;sw2926;sws326;dbsnp13883 AA3R_HUMAN;NP_000668.1 "A195T,I248L,M266K,V171I" "0,0,0,0" 140 9744 pmd575.1;pmd1267.1;sw1869;spmut50 ADA2A_HUMAN "C401S,N251K" "0,0" 150 7304 pmd578.1;pmd834.1;pmd983.1;pmd984.1;pmd3776.1;pmd3777.2;sw2878;sws322;spmut79;dbsnp6325;dbsnp6326;dbsnp6327;hgmd0613_1322 AKT1_HUMAN;NP_001014432.1;NP_001014431.1;NP_005154.2 "D46E,R25C,V167A" "0,1,0" 207 6976 pmd589.1;pmd2059.1;pmd3377.1;sw1771;spmut102;dbsnp6886;dbsnp6887;dbsnp6888 ANXA2_HUMAN;NP_001002857.1;NP_004030.1;NP_001129487.1 "A90V,G312S,I319M,R178G,T97M,V98L" "0,0,0,0,0,0" 302 9504 pmd592.1;sw3138;dbsnp3756 ABEC1_HUMAN;NP_001635.2 "A146G,E41Q,G10S,M1V,M80I,P108S,R236K" "0,0,0,0,0,0,0" 339 12193 pmd6.1;dbsnp21255;dbsnp21256;dbsnp21257 BDH_HUMAN;NP_976060.1;NP_976059.1;NP_004042.1 "A243T,G214A,K283M,M138I,P203L,R314H,R43C,R44Q,R5H,V110I,V215I" "0,0,0,0,0,0,0,0,0,0,0" 622 9828 pmd601.1;pmd602.2;sw3026;spmut65;dbsnp26149 AHR_HUMAN;NP_001612.1 "F485L,F550S,M490V,M786V,N663S,P275L,P471S,P517S,R107I,R359Q,R554K,V570I,V660M,V783M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196 2905 pmd603.1;pmd604.2;spmut194;dbsnp17221 BACE2_HUMAN;NP_036237.2 "A460T,L18P,S348L,V227I,V478I" "0,0,0,0,0" 25825 6339 pmd607.1;sw2121;sws229;dbsnp27860;hgmd0613_1460 BMP1_HUMAN;NP_006120.1 "A71S,D497N,F249L,G712S,R371H,R80H,R840H,R865Q,V719I,V817A,V830I,V902M" "0,0,1,0,0,0,0,0,0,0,0,0" 649 2047 pmd610.3;sw4580;dbsnp8749 BLMH_HUMAN;NP_000377.1 "E381A,E381K,I443V,M410I,N194T,V433M" "0,0,0,0,0,0" 642 7484 pmd611.1;sw2787;dbsnp5491 BKRB2_HUMAN;NP_000614.1 "D16A,G354E,I288V,K337R,R14C,R172C,V208I,V335M,V376M" "0,0,0,0,0,0,0,0,0" 624 8768 pmd617.1;pmd618.2;sw4506;sws561;dbsnp21913 GAB1_HUMAN;NP_002030.2 "P311L,P640S,R364C,T157A,T377I,Y472C" "0,0,0,0,0,0" 2549 3845 pmd623.2;pmd624.1;sw3139;spmut432;dbsnp6940;dbsnp6941 CSK_HUMAN;NP_004374.1;NP_001120662.1 "A427T,A428T,G287D,H442R,P45L,R398Q" "0,0,0,0,0,0" 1445 6519 pmd627.1;pmd4437.3;sw2123;dbsnp9996 CCL5_HUMAN;NP_002976.2 "R40H,R44L,S24F" "0,0,0" 6352 14748 pmd628.1;pmd4309.1;sw3524;spmut298;dbsnp20219;dbsnp20220 CCR5_HUMAN;NP_000570.1;NP_001093638.1 "A29S,A335V,A73V,C178R,C20S,D95N,E302G,E333G,E345G,F158S,F193L,G301V,G97E,I12L,I42F,K303E,K322R,K62R,L107F,L122P,L246P,L55Q,M210V,M287R,N306S,P34L,R223Q,R31H,R60S,S185N,S215L,T177A,T239S,T288M,V131F,V46M,Y10D,Y176C,Y214C,Y339F,Y68H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1234 9085 pmd629.1;pmd3406.1;pmd3407.2;sw2731;spmut305;dbsnp22613 CD38_HUMAN;NP_001766.2 "E61V,L18R,P8L,R140W,R194H,R251S,S7R,T148M" "0,0,0,0,0,0,0,0" 952 10850 pmd630.1;pmd1645.1;pmd1832.1;pmd1833.2;pmd1897.1;pmd2422.1;pmd2423.1;pmd2424.2;pmd2456.1;pmd2457.1;pmd2458.1;pmd2459.1;pmd2460.1;pmd2461.2;pmd2462.1;pmd2463.1;pmd2464.1;pmd2465.1;pmd2466.1;pmd2474.1;sw1532;spmut307;dbsnp4084 CD4_HUMAN;NP_000607.1 "A429V,E441G,F227S,G4E,I412T,K191E,R265W,R354L,R354Q,T444A,T444P,V13A" "0,0,0,0,0,0,0,0,0,0,0,0" 920 7429 pmd632.1;sw4011;spmut321 CDK5_HUMAN E225D 0 1020 5556 pmd634.1;pmd636.3;sw4010;sws483;dbsnp26823;dbsnp26824 CDK6_HUMAN;NP_001138778.1;NP_001250.1 "D110N,S317C" "0,0" 1021 10235 pmd645.1;dbsnp19070 CALRL_HUMAN;NP_005786.1 "D287E,F16L,L87P,M85V,R274I" "0,0,0,0,0" 10203 6520 pmd646.1;pmd4221.1;dbsnp12932 CAN2_HUMAN;NP_001739.2 "A184T,A34E,A371V,A57S,E164Q,E481G,E521Q,E74K,I646V,K219R,K476R,K568Q,K677Q,L672P,R296Q,R337C,R417Q,R664Q,S236C,S236F,S68G,S698L,V699A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 824 3796 pmd649.1;sw2947;spmut396;dbsnp13602 CNR2_HUMAN;NP_001832.1 "A199T,A280V,H316Y,I110T,L133I,Q63R,R302Q,R66Q" "0,0,0,0,0,0,0,0" 1269 9409 pmd65.1;sw1581;dbsnp8517 APOH_HUMAN;NP_000033.2 "A160D,C325G,E321K,E91G,G93E,I141T,N75S,R154H,R21Q,S107N,V266L,V5A,V95I,W335S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 350 9784 pmd653.1;pmd654.1;pmd656.1;pmd1409.3;pmd3929.3;pmd3930.1;pmd3931.2;pmd3932.3;pmd4297.2;sw3691;dbsnp13251 CASP9_HUMAN;NP_001220.2 "A209T,A28V,E114D,F136L,G176R,H237P,I185M,L106F,L106V,M157V,P123L,Q221R,R173H,R178C,R192C,R192G,R192S,S99L,T102I,T366N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 842 8250 pmd66.1;pmd386.1;sw3469;dbsnp20164 TNF10_HUMAN;NP_003801.1 "A55T,C16W,D47E,F275L,I242M,S101F,V33I,V80A" "0,0,0,0,0,0,0,0" 8743 11250 pmd686.1;sw3381;spmut509;dbsnp11838 DHYS_HUMAN;NP_001921.1 "A341G,A343G,A343V,E174D,L24F,Q64R,R91H,T23A" "0,0,0,0,0,0,0,0" 1725 9212 pmd687.1;pmd688.1;pmd689.2;sw4243;sws524;spmut481;dbsnp25491 DDR1_HUMAN;NP_054699.2 "A170D,I365F,L833V,N502S,P556L,R169Q,R172W,R248P,R248Q,R306W,R444H,R686P,S17C,S17G,T821M,V100A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 780 2507 pmd69.1;sw2360;spmut149;dbsnp27712;dbsnp27713;dbsnp27714;dbsnp27715;dbsnp27716;dbsnp27717;dbsnp27719 ARY1_HUMAN;NP_001153651.1;NP_000653.3;NP_001153642.1;NP_001153643.1;NP_001153644.1;NP_001153645.1;NP_001153646.1 "D251V,E261K,G45W,I114T,I263V,M205V,R117T,R187Q,R33Q,R64W,S214A,S259R,T207I,V149I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9 9616 pmd694.1;sw3520;dbsnp8812 CCL11_HUMAN;NP_002977.1 "A23P,A23T,A69D,K79R,K86T,L7P,M85V,P76H,R51S" "0,0,0,0,0,0,0,0,0" 6356 14658 pmd7.1;pmd4097.1;spmut1619;dbsnp15460 PRDX6_HUMAN;NP_004896.1 "A171T,D183V" "0,0" 9588 12449 pmd70.2;pmd2418.1;sw2043 ARY2_HUMAN "D122N,G286E,I114T,K268R,K282T,L135V,L137F,L24I,P228L,Q145P,R197Q,R64Q,R64W,T193M,V280M,Y208H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10 9616 pmd714.1;pmd715.2;pmd716.1;spmut690;dbsnp2414 FEN1_HUMAN;NP_004102.1 "D290V,E300Q,I259M,L263V,P151L,R47H,R47L" "0,0,0,0,0,0,0" 2237 8968 pmd717.1;pmd718.1;sw4164;sws510;spmut662;dbsnp27993 FAK1_HUMAN;NP_722560.1 "A782T,D1030E,D795E,H292P,H292Q,I760M,K209R,N916S,P973L,R824C,S517T,S74T,S940G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5747 1807 pmd719.1;pmd2052.1;sw2421;dbsnp23638 FST_HUMAN;NP_037541.1 "E152Q,L18F,R194Q" "0,0,0" 10468 9808 pmd722.1;sw4453;sws552;dbsnp13770 SLAF1_HUMAN;NP_003028.1 "E71G,F11L,G93E,I306V,M30T,P315S,P333T,S16F" "0,0,0,0,0,0,0,0" 6504 10008 pmd724.4;pmd4641.3;sw2110;dbsnp16374;dbsnp16375 SRC_HUMAN;NP_938033.1;NP_005408.1 "A237T,D407H,L176F,R271W" "0,0,0,0" 6714 5941 pmd735.1;pmd4365.1;sw551;spmut815;dbsnp24972 GSTA4_HUMAN;NP_001503.1 "K84R,L100P,T163A" "0,0,0" 2941 12488 pmd741.1;sw5035;spmut1675;dbsnp18477 QPCT_HUMAN;NP_036545.1 "A224P,F325V,H360P,I344T,I350V,N151S,N338H,Q71R,R54W,R88H,T108N,T60I,V353A,V353I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25797 9381 pmd742.1;sw4163;dbsnp420;dbsnp421 DCE2_HUMAN;NP_000809.1;NP_001127838.1 "A269T,G12R,G232E,G326A,I228T,I294T,I575T,K124N,K286R,M204I,P153Q,R375Q,S527L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2572 5202 pmd768.1;spmut265;dbsnp12056 CAP7_HUMAN;NP_001691.1 "A141T,A19P,D108Y,F235C,G161E,G249R,L219M,N171K,R158H,R162H,R165H,R193H,R89Q,S218A,T132M,T142M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 566 11882 pmd769.1;pmd770.2;spmut1908;dbsnp22503 SETD7_HUMAN;NP_085151.1 "A154T,C288S,C288Y,E214K,I304M,R48Q,T266I" "0,0,0,0,0,0,0" 80854 9275 pmd771.2;pmd772.3;pmd773.4;sw9089;spmut588;dbsnp24270 EHMT2_HUMAN;NP_006700.3 "A1137G,A1190P,A54G,D101N,L298V,R106W,R371Q,R586Q,S58F,T1167P,T55N,Y1165F" "0,0,0,0,0,0,0,0,0,0,0,0" 10919 1393 pmd774.2;pmd775.3;pmd903.2;pmd4103.1;sw9495;dbsnp21988;dbsnp21989;dbsnp21991 PITX2_HUMAN;NP_001191326.1;NP_001191327.1;NP_700475.1 A20V 0 5308 10306 pmd776.1;sw5023;spmut872;dbsnp5875 HIF1A_HUMAN;NP_001521.1 "A475S,A588T,D105G,D349N,D422Y,N689T,P582S,Q763H,T418I,T796A,V50L" "0,0,0,0,0,0,0,0,0,0,0" 3091 2899 pmd777.1;sw2610;dbsnp18998 IBP5_HUMAN;NP_000590.1 "R138W,R212C,V257F" "0,0,0" 3488 11432 pmd78.1;pmd79.2;sw3400;sws404;dbsnp17754;dbsnp17755 KC1E_HUMAN;NP_689407.1;NP_001885.1 "H413R,P403S,S408N" "0,0,0" 1454 8249 pmd780.1;pmd3945.1;pmd3950.2;pmd3951.3;pmd4398.1;sw479;sws37;spmut951;dbsnp27535 IKKB_HUMAN;NP_001547.1 "A710T,A736T,E502K,E529K,F734L,G557R,L126M,M676I,Q369R,R526Q,R554W,R645Q,Y205H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3551 3554 pmd792.1;dbsnp3221 IL18_HUMAN;NP_001553.1 R63Q 0 3606 13117 pmd793.1;pmd1538.1;pmd1539.1;pmd1540.1;pmd1586.8;pmd1650.1;pmd1651.1;pmd1826.1;pmd2087.1;pmd2088.1;pmd2235.1;pmd3229.1;pmd3581.1;pmd3582.1;dbsnp21998 IL2_HUMAN;NP_000577.2 "L38R,M43I" "0,0" 3558 13853 pmd797.2;pmd2029.1;pmd2089.1;pmd2090.1;pmd2300.1;pmd3230.1;sw1856;dbsnp22966 IL3_HUMAN;NP_000579.2 "A140E,N139K,N60S,P27S,R15H,R3C" "0,0,0,0,0,0" 3562 13875 pmd798.1;pmd4413.1;pmd4621.1;pmd4622.2;sw2603;spmut957;dbsnp7483;dbsnp7486 IL4RA_HUMAN;NP_000409.1;NP_001244335.1 "A367D,A492T,A492V,A614P,A82T,C431R,E119K,E400A,G382R,G460V,I75F,I75L,I75V,L559V,P435S,P472S,P675S,R185H,R271H,S387L,S436L,S503P,S752A,S786P,T158I,V579I,V592L,V815I,V85M,Y631C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3566 3055 pmd799.1;spmut1048;dbsnp12423 KCNN4_HUMAN;NP_002241.1 "H340N,R317Q,R362Q,V77M" "0,0,0,0" 3783 7999 pmd805.1;pmd806.2;sw4447;spmut2157;dbsnp11876 TIF1B_HUMAN;NP_005753.1 "D726N,L672F,N358T,T144P,T567A,T728I,T794M" "0,0,0,0,0,0,0" 10155 3003 pmd808.2;sws1065;dbsnp700 KLF6_HUMAN;NP_001291.3 "A276T,P166S,R176H,S142F,V165M" "0,0,0,0,0" 1316 12103 pmd816.1;pmd817.1;sw3918;spmut1417;dbsnp4069 OLR1_HUMAN;NP_002534.1 "K167N,K267E,S32C" "0,0,0" 4973 11406 pmd818.1;pmd2486.1;sw1614 1B27_HUMAN Y83H 0 3106 7735 pmd825.1;pmd826.2;sw5047;dbsnp3352 DUS6_HUMAN;NP_001937.2 "D318E,E32K,G30C,N313I,N313T,S144A,S182C,S182F,T87I,V114L" "0,0,0,0,0,0,0,0,0,0" 1848 12238 pmd827.1;pmd828.2;pmd829.3;pmd830.4;sw2722;dbsnp23661 DUS1_HUMAN;NP_004408.1 "A353V,A56T,D9H,Y187H" "0,0,0,0" 1843 8700 pmd831.1;pmd832.2;dbsnp28145 DUS4_HUMAN;NP_001385.1 "A28P,A28T" "0,0" 1846 8700 pmd833.3;sw3252;sws378;spmut1235;dbsnp816 MK08_HUMAN;NP_620637.1 "E365K,T367A" "0,0" 5599 7329 pmd847.1;sw2916;spmut1193;dbsnp10412 MC5R_HUMAN;NP_005904.1 "A196T,D119Y,G245S,I294T,T305I" "0,0,0,0,0" 4161 10086 pmd864.2;sw2513;dbsnp9033 PERL_HUMAN;NP_006142.1 "A244T,D700N,E240K,E240Q,G143E,I297N,I614T,N481S,P266L,R193W,R319C,R319G,R414Q,R514Q,R535H,R80Q,T105I,V421M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4025 3657 pmd870.1;pmd3396.1;pmd3397.1;sw1994;sws208;spmut207;dbsnp10394 BCL2_HUMAN;NP_000624.2 "A43T,F124L,G203S,T7S" "0,0,0,0" 596 12139 pmd871.1;pmd3273.1;pmd4085.1;sw2642;dbsnp21691 NPY1R_HUMAN;NP_000900.1 "A111V,K374T,L43S" "0,0,0" 4886 8906 pmd88.1;pmd2984.1;pmd2985.1;pmd3549.2;pmd4005.1;pmd4305.1;sw1445 F13A_HUMAN "M351K,Q652E,R682H,T650I,V35L" "0,0,1,0,0" 2162 3762 pmd890.1;pmd891.2;pmd892.3;sw3343;spmut1387;dbsnp16988 NRIP1_HUMAN;NP_003480.2 "A1049V,A792T,C760S,H221R,I389T,I441V,M106V,M752T,N326K,N524D,N567S,N851Y,P233L,P519L,P691S,Q1101H,R1135C,R448G,R734K,S1100P,S1138G,S245T,S803L,S917L,T1152M,T449A,V1079F,V206M,V37I,Y1144D,Y315F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8204 1531 pmd893.1;dbsnp27169 POP7_HUMAN;NP_005828.2 "Q97H,T138K,V98M" "0,0,0" 10248 14080 pmd897.1;sw3506;dbsnp9676 P2RX1_HUMAN;NP_002549.1 "A11T,D154N,M214V,M396V,R381H,V267I" "0,0,0,0,0,0" 5023 8596 pmd898.1;sws587;dbsnp5252 ARHG7_HUMAN;NP_001106983.1 "G29S,L187R,Q160L,S103P,S176C,T337P,V570M" "0,0,0,0,0,0,0" 8874 3184 pmd899.1;sw9353;sws1041;spmut1474;dbsnp18263;dbsnp18264;hgmd0613_1733 PASK_HUMAN;NP_055963.2;NP_001239049.1 "A337E,A92P,C859Y,D938N,E796K,F1266C,F369V,G1117E,G526R,G725D,G782R,G881E,L1051V,L1174F,L514S,P1182L,P1301S,P684R,P844Q,Q426R,Q476R,R1319H,R221Q,R224C,R336Q,R455W,R814W,R937C,R937H,R944H,R944P,S239L,S255N,S637T,S71F,T1195M,T136A,T512A,T685R,T763M,T850M,T858M,V1210M,V1302I,V213A,V250I,V694M,W975R,Y613C,Y899H" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23178 1108 pmd90.2;pmd2511.1;pmd2512.2;pmd2531.1;pmd2876.1;pmd2972.1;sw1817 CBG_HUMAN S246A 0 866 8488 pmd91.1;pmd92.2;sw418;spmut299;dbsnp2829;hgmd0613_1313 CCS_HUMAN;NP_005116.1 "A28V,E123D,G263A,G70R,G95V,R163W,V102L,V99M" "0,0,0,0,0,1,0,0" 9973 11389 pmd912.2;pmd913.3;sw676 PAX4_HUMAN "R191C,R39Q" "0,0" 5078 9646 pmd914.1;pmd915.2;pmd938.1;pmd4489.1;pmd4490.1;pmd4491.1;spmut1543;dbsnp12577;hgmd0613_1477 PIN1_HUMAN;NP_006212.1 "A124S,R142Q" "0,0" 5300 13656 pmd918.1;sw2690;dbsnp23394 P85A_HUMAN;NP_852664.1 "D440A,E451K,K430T,M326I,R409Q,T239M" "0,0,0,0,1,0" 5295 3800 pmd919.1;pmd920.2;pmd921.3;pmd922.4;pmd923.5;pmd1033.1;pmd3186.2;spmut1685;dbsnp4838;dbsnp4840 RAB5B_HUMAN;NP_002859.1;NP_001238965.1 I97V 0 5869 11934 pmd924.1;pmd925.2;sw3168;dbsnp20477;hgmd0613_1476 PK3CA_HUMAN;NP_006209.2 "A1035V,C420R,E453Q,E542K,E542Q,E542V,E545A,E545G,E545K,G1007R,G1050D,G106V,H1047L,H1047R,H1047Y,H1065L,H1065Y,I391M,I43V,M1043I,Q546E,Q546K,Q546P,Q546R,R1023Q,R38H,R88Q,S332R,T1025N,T1052K,Y1021C,Y1021H,Y1021N,Y343C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1" 5290 1824 pmd931.1;sw4062;dbsnp2507 PLCB3_HUMAN;NP_000923.1 "A156V,E1023D,E1164D,E564A,G1013V,K30I,N48S,P1196L,P904L,R169W,R483H,S845L,T1021M,V806I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5331 1327 pmd934.1;sw537;spmut1573;dbsnp19964 PLS1_HUMAN;NP_066928.1 "A29T,G20V,H262Y,P18T,P49R,T218I" "0,0,0,0,0,0" 5359 10433 pmd935.1;sw3678;dbsnp16211 PLTP_HUMAN;NP_006218.1 "A283V,D112A,D112V,E278Q,F19L,F444L,G59S,H16R,M425I,R282Q,R328W,R372H,R380W,S124Y,T487K,V422M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5360 6780 pmd937.2;pmd2333.1;sw2047;sws217;spmut1542;dbsnp25328 PIM1_HUMAN;NP_001230115.1 "E215Q,E226K,E233D,P402T" "0,0,0,0" 5292 8499 pmd944.1;sw1619;dbsnp8504 VTNC_HUMAN;NP_000629.3 "A122S,A124V,D423N,E126V,G65R,H385L,H385P,I316M,Q48H,R268Q,R324S,S386N,S407G,T400M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7448 7035 pmd947.2;pmd948.3;sw2628;dbsnp12850;dbsnp12851;dbsnp12852;dbsnp12853 PTAFR_HUMAN;NP_001158193.1;NP_000943.1;NP_001158194.1;NP_001158195.1 "A144V,A239V,A274T,L28F,N114S,N338S,R229Q" "0,0,0,0,0,0,0" 5724 9848 pmd949.2;sw2209;dbsnp10830 PVR_HUMAN;NP_006496.3 "A295T,A344T,A390T,A67T,E226K,F347L,I340M,K369R,L310S,N271S,N316S,P193A,P287S,R269H,R300H,T308I,T416A,V154L,Y277C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5817 6019 pmd95.1;pmd635.2;pmd4018.1;pmd4019.1;sw2618;sws298;spmut319;dbsnp3651 CDK2_HUMAN;NP_001789.2 "A277S,N3K,T290S,V18L,Y15S" "0,0,0,0,0" 1017 11607 pmd950.1;pmd951.2;pmd952.1;pmd953.2;pmd2509.2;sw2143;dbsnp28578;hgmd0613_15 HEM2_HUMAN;NP_000022.3 "A274T,E176G,F12L,G133R,K59N,R17Q,R240W,V153M,V275M" "1,0,1,1,0,0,1,1,1" 210 10134 pmd977.1;pmd978.2;pmd3117.1;pmd3118.1;sw2217;spmut1597;dbsnp21012 PPAP_HUMAN;NP_001090.2 "A4T,D301E,F124V,F24S,S15N,T335M,V360A,W226R,Y330H" "0,0,0,0,0,0,0,0,0" 55 8221 pmd979.1;dbsnp25247 SPB9_HUMAN;NP_004146.1 "A51T,C108W,H67L,I13T,I153T,L268F,L92F,M343V,Q99H,S128C" "0,0,0,0,0,0,0,0,0,0" 5272 8998 pmd98.1;sw2639;dbsnp13606 CATS_HUMAN;NP_004070.3 "R113G,R113W,R255H,R3W,S161T,V7A" "0,0,0,0,0,0" 1520 10106 pmd981.2;sws580;dbsnp8451 PEBB_HUMAN;NP_001746.1 E126A 0 865 13235 pmd988.1;pmd989.1;pmd990.3;pmd1298.1;pmd1299.1;pmd1300.2;pmd1301.3;pmd3633.1;pmd3768.1;pmd3769.2;pmd3787.1;pmd3952.1;pmd3953.1;pmd3954.2;pmd3955.3;pmd4092.1;pmd4218.1;pmd4219.1;pmd4220.2;sw2405;sws265;spmut564;dbsnp19585;dbsnp19586 E2AK2_HUMAN;NP_001129123.1;NP_002750.1 "I506V,S192C,V428E" "0,0,0" 5610 5817 pmd99.1;pmd3509.1;pmd3510.1;pmd3511.1;pmd4020.1;sw1485;dbsnp21043 CYTA_HUMAN;NP_005204.1 "G84R,K91N,T96M,T96R" "0,0,0,0" 1475 14674 pmd991.4;dbsnp6220 IF2A_HUMAN;NP_004085.1 C199F 0 1965 10519 pmd992.1;pmd3654.2;dbsnp3118 PP1A_HUMAN;NP_002699.1 A326T 0 5499 9884 pmd993.1;sw2777;dbsnp1778 2AAB_HUMAN;NP_002707.3 "A599V,D504G,G15A,G8R,G90D,I595V,K343E,K354R,L101P,L499I,N399S,P65S,S365P,T157K,V448A,V498E,V500G,V545A,Y468C,Y72F" "0,1,1,1,1,0,1,0,1,1,0,1,1,0,1,1,1,1,0,0" 5519 4401 pmd994.1;pmd995.2;pmd996.3;pmd1104.1;pmd3926.2;sw3889;spmut1591;dbsnp24151 PP2AA_HUMAN;NP_002706.1 "A216P,K21R,V52A" "0,0,0" 5515 9872 pmd998.2;pmd4486.1;dbsnp11892 PPP5_HUMAN;NP_006238.1 "K199N,M1T,P14H,P14L,T229I,V484I" "0,0,0,0,0,0" 5536 6686 spmut1000;dbsnp19130 ITBP1_HUMAN;NP_004754.1 A150V 0 9270 12962 spmut1001;dbsnp16862 ITCH_HUMAN;NP_001244066.1 "C156Y,L165F,M486V,N58S" "0,0,0,0" 83737 2483 spmut1004;dbsnp5351 ITM2B_HUMAN;NP_068839.1 D85N 0 9445 11564 spmut1005;dbsnp6243;dbsnp6244 ITPK1_HUMAN;NP_001136065.1;NP_055031.2 "E260V,G348S,G360S,L30Q,R256Q,R353W,V209M,V55I" "0,0,0,0,0,0,0,0" 3705 8303 spmut1021;dbsnp30461;dbsnp30462 KAISO_HUMAN;NP_001171671.1;NP_006768.1 "A130V,A256S,D144G,D187G,I226V,I652V,K407E,P625S,P625T,Q218L,R92H,V224I,V404I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10009 4355 spmut1028;dbsnp9750 KAT7_HUMAN;NP_008998.1 "H176Q,I231V,K596E,M157V,S46L" "0,0,0,0,0" 11143 5012 spmut1029;dbsnp21629 KBRS1_HUMAN;NP_065078.1 T152R 0 28512 13137 spmut1043;dbsnp15524 KCNK1_HUMAN;NP_002236.1 "D50E,D50G,F195C,H271R,L31V,R171H,S303L" "0,0,0,0,0,0,0" 3775 9993 spmut1044;dbsnp19858 KCNK3_HUMAN;NP_002237.1 H141Q 0 3777 8710 spmut1054;dbsnp1735 KDM2A_HUMAN;NP_036440.1 "G228E,Y904C" "0,0" 22992 1522 spmut1057;dbsnp14889 KDM5B_HUMAN;NP_006609.3 "E903Q,I445V,K774E,N460D,R1382Q,R1461H,R733Q,V1174M" "0,0,0,0,0,0,0,0" 10765 650 spmut106;dbsnp10200 AP2B1_HUMAN;NP_001273.1 V685A 0 163 2337 spmut1071;dbsnp1207 KIN17_HUMAN;NP_036443.1 A367V 0 22944 8730 spmut1074;dbsnp30576 KLF8_HUMAN;NP_009181.2 "I108V,L75F,R109C,R295H,V188M" "0,0,0,0,0" 11279 9460 spmut1075;dbsnp12480;dbsnp12482 KLK7_HUMAN;NP_644806.1;NP_005037.1 "D87E,G227S,P208L,R63H,S96L,T153M,T242I,V58I" "0,0,0,0,0,0,0,0" 5650 11845 spmut1076;dbsnp3328 KLRF2_HUMAN;NP_001177694.1 "A197V,P131T,R15C,S93L,T188I,T98R,V174I,V68I,Y76C" "0,0,0,0,0,0,0,0,0" 100431172 12814 spmut1092;dbsnp25575 KTNA1_HUMAN;NP_008975.1 "A85V,P349S,R135T,T343A,Y300F" "0,0,0,0,0" 11104 6827 spmut1097;dbsnp19323;dbsnp19324;dbsnp19325 LANC1_HUMAN;NP_006046.1;NP_001130047.1;NP_001130046.1 "A147D,A279T,D270Y,F164L,G157S,I138M,K297M,N260S,R155Q,T200M,V308M" "0,0,0,0,0,0,0,0,0,0,0" 10314 7592 spmut1099;dbsnp22544;dbsnp22545 LARP7_HUMAN;NP_057732.2;NP_056269.1 "D490N,E383K,E4K,E4Q,R279Q,T425A" "0,0,0,0,0,0" 51574 5385 spmut1100;dbsnp9658 LAT4_HUMAN;NP_689559.1 "A287V,A309V,A312V,E400K,R540H,R544W,T422I,V210I" "0,0,0,0,0,0,0,0" 124935 5565 spmut1103;dbsnp8373 LAT_HUMAN;NP_055202.1 "P170L,P236L,R53Q" "0,0,0" 27040 11512 spmut1115;dbsnp19743;dbsnp19745 LIMS1_HUMAN;NP_004978.2;NP_001180417.1 "A39T,G16S,V273M,V37L" "0,0,0,0" 3987 8864 spmut1127;dbsnp7642 LONP2_HUMAN;NP_113678.2 "P544S,R246C,R329H,R597G,S825N" "0,0,0,0,0" 83752 2891 spmut1131;dbsnp12734 LPAR2_HUMAN;NP_004711.2 "G14D,R307H,R316H,T236M" "0,0,0,0" 9170 9315 spmut1142;dbsnp8496;dbsnp8497;dbsnp8498 LST8_HUMAN;NP_071767.3;NP_001186103.1;NP_001186102.1 G275S 0 64223 10246 spmut1155;dbsnp25345 M3K7_HUMAN;NP_663304.1 "Q139H,V428I" "0,0" 6885 5068 spmut115;dbsnp11893 APLP1_HUMAN;NP_005157.1 "G38R,G574R,P479A,R106G,R73L,S613T,T215S,V437M,V616M" "0,0,0,0,0,0,0,0,0" 333 4585 spmut1160;dbsnp2935 MACD1_HUMAN;NP_054786.2 "E311K,E311Q,G185S,I313S,L156M,R110Q" "0,0,0,0,0,0" 28992 10275 spmut1162;dbsnp9993;dbsnp9994 MAFG_HUMAN;NP_116100.2;NP_002350.1 V150I 0 4097 13682 spmut1165;dbsnp30249 MAGA3_HUMAN;NP_005353.1 "A199T,D60H,E102G,G191C,G263S,G94E,H249Y,H298R,I299V,L175V,L278I,L309F,P266L,Q252R,Q66R,R211K,S152I,S156D,T247I,V205I,V230M,V279I,V308A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4102 7959 spmut1166;dbsnp7009 MAGG1_HUMAN;NP_619649.1 "A293T,G78R,K102E,N191S,N255I,S24G,V207I" "0,0,0,0,0,0,0" 56160 10783 spmut1175;dbsnp16866 MARE1_HUMAN;NP_036457.1 I56V 0 22919 10217 spmut1176;dbsnp1203 MARH5_HUMAN;NP_060294.1 T20A 0 54708 11308 spmut117;dbsnp25814 APOM_HUMAN;NP_061974.2 "A172T,P117H,T31A" "0,0,0" 55937 13211 spmut1180;dbsnp1365 MARK2_HUMAN;NP_001034558.2 "H308P,L668F,P389L,P389Q,P548S,R302Q,R512Q,S633N,S725R" "0,0,0,0,0,0,0,0,0" 2011 3250 spmut1185;dbsnp25226 MAS_HUMAN;NP_002368.1 "G115D,I228V,L123P,R311C,T124M,T200M,V321D,Y252C" "0,0,0,0,0,0,0,0" 4142 10276 spmut1187;dbsnp5995;hgmd0613_925 MAX_HUMAN;NP_002373.3 G137C 0 4149 13722 spmut1189;dbsnp12641 MBD3_HUMAN;NP_003917.1 "A184T,A199T,E275K" "0,0,0" 53615 8366 spmut1196;dbsnp10606 MCES_HUMAN;NP_003790.1 "A20P,D198G,I268T,K442E,N31S,P422L,Q193E,R107G,R247C,T47S,V22M,Y10H" "0,0,0,0,0,0,0,0,0,0,0,0" 8731 7088 spmut1204;dbsnp880 MCU_HUMAN;NP_612366.1 "R221Q,R96C" "0,0" 90550 9632 spmut1205;dbsnp21905 MD2L1_HUMAN;NP_002349.1 "I190V,L65I,S120F" "0,0,0" 4085 12861 spmut1206;dbsnp15980;dbsnp15981 MD2L2_HUMAN;NP_001120797.1;NP_006332.3 R93H 0 10459 12718 spmut1210;dbsnp17800 MED15_HUMAN;NP_001003891.1 "A495V,A787P,M101L,M378L,P653L,P675S" "0,0,0,0,0,0" 51586 3303 spmut1213;dbsnp23069;dbsnp23073;hgmd0613_928 MEF2C_HUMAN;NP_001180279.1;NP_002388.2 "P111S,S468F" "0,0" 4208 6956 spmut1220;dbsnp7170 MEX3B_HUMAN;NP_115622.2 "I233V,N142H,P353S" "0,0,0" 84206 5566 spmut1224;dbsnp15517 MFS2A_HUMAN;NP_001129965.1 "T201I,T223M" "0,0" 84879 5951 spmut1226;dbsnp15875 MGN_HUMAN;NP_002361.1 H96R 0 4116 13952 spmut1227;dbsnp10225 MIEN1_HUMAN;NP_115715.3 S44T 0 84299 14472 spmut1228;dbsnp14768 MIER1_HUMAN;NP_001071169.1 "E115K,R463G" "0,0" 57708 5620 spmut1230;dbsnp17766 MIOX_HUMAN;NP_060054.4 "C148Y,D230N,E134D,K206E,P211S,R218W,R229C,R229H,R268Q,V140I" "0,0,0,0,0,0,0,0,0,0" 55586 11193 spmut1231;dbsnp9603 MIRO1_HUMAN;NP_060777.3 "R273Q,R595Q,S539G,T256S" "0,0,0,0" 55288 4163 spmut1249;dbsnp8297 MLP3B_HUMAN;NP_073729.1 "E25Q,M60V,T118A,V33A" "0,0,0,0" 81631 13977 spmut1250;dbsnp15172 MLP3C_HUMAN;NP_001004343.1 "A99T,V115M" "0,0" 440738 13977 spmut1255;dbsnp6987 MO4L1_HUMAN;NP_996670.1 "K240R,N191S,P77R,T246A" "0,0,0,0" 10933 9367 spmut1256;dbsnp30670;dbsnp30671;dbsnp30672;dbsnp30673;dbsnp30674;dbsnp30675;dbsnp30676;dbsnp30677;dbsnp30678;dbsnp30679;dbsnp30680;dbsnp30681;dbsnp30682;dbsnp30683;dbsnp30684;dbsnp30685 MO4L2_HUMAN;NP_036418.1;NP_001135890.1;NP_001135891.1;NP_001135892.1;NP_001135893.1;NP_001135895.1;NP_001135894.1;NP_001135896.1;NP_001135897.1;NP_001135898.1;NP_001135899.1;NP_001135901.1;NP_001135900.1;NP_001135902.1;NP_001135903.1;NP_001135904.1 "N117S,P218A" "0,0" 9643 9367 spmut1257;dbsnp6079 MOAP1_HUMAN;NP_071434.2 "E60K,L265F,P139L,Q28R,Q292R,R308L,R57K,V197M,V200I" "0,0,0,0,0,0,0,0,0" 64112 9586 spmut125;dbsnp14701 ARHG2_HUMAN;NP_001155855.1 "A738V,G951C,R259H,S986R,T695M,T915P" "0,0,0,0,0,0" 9181 2155 spmut1264;dbsnp10201 MP2K6_HUMAN;NP_002749.2 R254Q 0 5608 8600 spmut1269;dbsnp5276 MPP8_HUMAN;NP_059990.2 "A12G,D325N,D460Y,K201R,M318L,R389G,R528K,S260A,T581S,V74I" "0,0,0,0,0,0,0,0,0,0" 54737 2833 spmut1276;dbsnp17210 MS18A_HUMAN;NP_061817.1 "M55T,S10T" "0,0" 54069 12276 spmut1279;dbsnp28189 MSRA_HUMAN;NP_036463.1 "E59K,R148C,R22S" "0,0,0" 4482 12233 spmut1291;dbsnp19348 MTND_HUMAN;NP_060739.2 "A157V,D109A,E139K,E152K,R147Q,T68A" "0,0,0,0,0,0" 55256 13378 spmut1297;dbsnp14568 MUL1_HUMAN;NP_078820.2 "C10Y,E153G,I54M,R328C,V139A" "0,0,0,0,0" 79594 9611 spmut131;dbsnp7254 ARI1_HUMAN;NP_005735.2 C357Y 0 25820 5739 spmut1320;dbsnp29175 NCBP1_HUMAN;NP_002477.1 "A219S,K657Q,P446L,P776T,V125M" "0,0,0,0,0" 4686 3290 spmut1324;dbsnp19827;dbsnp19828 NCK2_HUMAN;NP_003572.2;NP_001004720.1 V338M 0 8440 8980 spmut1331;dbsnp9334 NDEL1_HUMAN;NP_110435.1 "A323T,G300D,G319S,P230A,P342S,T191S" "0,0,0,0,0,0" 81565 9797 spmut1335;dbsnp24089;hgmd0613_788 NDST1_HUMAN;NP_001534.1 "A254T,I25V,P54R,R112C,R80H,S766G,T701S" "0,0,0,0,0,0,0" 3340 2699 spmut1344;dbsnp29486;dbsnp29489;dbsnp29490 NEK6_HUMAN;NP_001159642.1;NP_055212.2;NP_001159640.1 "H291D,K92R,N16K" "0,0,0" 10783 9748 spmut1352;dbsnp7843 NFAT5_HUMAN;NP_006590.1 "G1428S,P589S,Q1233R,Q910R,S126G,S639A,T852P" "0,0,0,0,0,0,0" 10725 778 spmut1353;dbsnp3937;dbsnp3938 NFE2_HUMAN;NP_006154.1;NP_001129495.1 "P211S,R338P,R365P,R365W" "0,0,0,0" 4778 9143 spmut135;dbsnp897 ARI5B_HUMAN;NP_115575.1 "A618T,C258G,E141A,E169D,H821N,P3A,P709L,P715A,R780G,S480N,S66T,T441N,T901A,V1182M,V801A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84159 1457 spmut1369;dbsnp15161 NMNA2_HUMAN;NP_055854.1 I113V 0 23057 10717 spmut1380;dbsnp8060 NOXO1_HUMAN;NP_751908.1 "A109V,L158F,Q172K,R229P,R39H,R64W" "0,0,0,0,0,0" 124056 9077 spmut1383;dbsnp24158 NPM_HUMAN;NP_002511.1 E245Q 0 4869 11009 spmut1385;dbsnp14129 NR5A2_HUMAN;NP_995582.1 "E515K,L10I,R333P,R333Q,T295M" "0,0,0,0,0" 2494 5978 spmut1388;dbsnp29170 NRK1_HUMAN;NP_060351.1 "A77T,E90Q,G141E,L102V,T162P" "0,0,0,0,0" 54981 12326 spmut1390;dbsnp15010 NS1BP_HUMAN;NP_006460.2 "E218D,H426Q,L510F,S630P,V623G" "0,0,0,0,0" 10625 4674 spmut1394;dbsnp26620;dbsnp26621;dbsnp26622 NTAL_HUMAN;NP_115853.2;NP_115852.1;NP_054865.2 "E186D,I39M" "0,0" 7462 12060 spmut1403;dbsnp25357 NUDT3_HUMAN;NP_006694.1 "F26L,I99L,S161L,S38N" "0,0,0,0" 11165 11088 spmut1408;dbsnp4765 OAS2_HUMAN;NP_058197.2 "A13T,A576V,D216G,D304N,E659A,N612S,P222L,P683L,R393Q,R650C,R65G,V248I" "0,0,0,0,0,0,0,0,0,0,0,0" 4939 3888 spmut141;dbsnp21585 ARL8B_HUMAN;NP_060654.1 I162V 0 55207 13244 spmut1425;dbsnp2951 ORN_HUMAN;NP_056338.2 "A32V,D147N,D87E,E183D,E99K,G36E" "0,0,0,0,0,0" 25996 12183 spmut1427;dbsnp15084 OTU1_HUMAN;NP_061036.3 "G346A,N314S,P33S,T105A,T105P" "0,0,0,0,0" 55432 9716 spmut1428;dbsnp16005 OTU7B_HUMAN;NP_064590.2 "P676Q,S55Y" "0,0" 56957 2459 spmut1429;dbsnp2777 OTUB1_HUMAN;NP_060140.2 "D157N,E50V" "0,0" 55611 11465 spmut1430;dbsnp6047 OTUB2_HUMAN;NP_075601.1 "A41T,F6C,R29Q,V78I" "0,0,0,0" 78990 12259 spmut1438;dbsnp1188;dbsnp1190 P4HA1_HUMAN;NP_001017962.1;NP_001136067.1 "D124V,H313Y,I111V,L63S,R339L,T481S" "0,0,0,0,0,0" 5033 6064 spmut1447;dbsnp4651 PA2G4_HUMAN;NP_006182.2 "M57T,V106I" "0,0" 5036 8711 spmut1449;dbsnp27128 PACR_HUMAN;NP_001109.2 "A155S,D121G,H432Y,L12V,M190I,N42S,N48S,S8F,V283L" "0,0,0,0,0,0,0,0,0" 117 6733 spmut144;dbsnp3120 ARRB1_HUMAN;NP_004032.2 "T227M,T370M" "0,0" 408 7950 spmut1450;dbsnp19738 PADC1_HUMAN;NP_115695.1 "I166T,R102W,R41Q" "0,0,0" 84279 13213 spmut1454;dbsnp2832;dbsnp2833 PAG16_HUMAN;NP_009000.2;NP_001121675.1 "A45P,R126C" "0,0" 11145 13683 spmut1456;dbsnp20084 PAK2_HUMAN;NP_002568.2 "K128R,Q101H,S20R,V414L" "0,0,0,0" 5062 5420 spmut145;dbsnp10124 ARRB2_HUMAN;NP_004304.1 "I374T,T382I" "0,0" 409 7950 spmut1472;dbsnp8110 PARN_HUMAN;NP_002573.1 "K359E,Q209E,R538W,T85M,V564I" "0,0,0,0,0" 5073 4709 spmut1478;dbsnp19448 PCGF1_HUMAN;NP_116062.2 "H161P,I236L,L145V,N170S,P245L,R164G,R240S,S146N,V135I,Y162C" "0,0,0,0,0,0,0,0,0,0" 84759 11726 spmut1479;dbsnp1111 PCGF6_HUMAN;NP_001011663.1 "G341V,I260L,K207R,M101L,R246H" "0,0,0,0,0" 84108 9665 spmut1480;dbsnp16827;dbsnp16828 PCNA_HUMAN;NP_872590.1;NP_002583.1 S223P 0 5111 11681 spmut1484;dbsnp21278 PCY1A_HUMAN;NP_005008.2 "P337L,P337S,R328G,R42W" "0,0,0,0" 5130 9230 spmut148;dbsnp23991 ARSI_HUMAN;NP_001012301.1 "C548R,D372N,F164L,F515C,G31W,R246H,R336Q,R339W,R381Q,R474P,R486C,R544C" "0,0,0,0,0,0,0,0,0,0,0,0" 340075 5148 spmut1494;dbsnp6986 PDE8A_HUMAN;NP_002596.1 "D663N,D78N,K295R,N401S,N474S,Q69L,Q69R,R377Q,R44W,R454Q,T622I" "0,0,0,0,0,0,0,0,0,0,0" 5151 2691 spmut1495;dbsnp17109 PDE9A_HUMAN;NP_002597.1 "A394T,C460Y,D34H,G283R,L272V,M560R,R118Q,R237Q,R555Q,T451I,T571M" "0,0,0,0,0,0,0,0,0,0,0" 5152 5231 spmut1496;dbsnp22712 PDGFC_HUMAN;NP_057289.1 "P178A,Q31H,Q38R" "0,0,0" 56034 9798 spmut1499;dbsnp17730 PDIP3_HUMAN;NP_115687.2 "A15T,A16V,G166R,G205S,I169T,N173S,T196I" "0,0,0,0,0,0,0" 84271 8138 spmut14;dbsnp5373;dbsnp5374 A2LD1_HUMAN;NP_149101.1;NP_001182016.1 "R146C,V63M" "0,0" 87769 13864 spmut1508;dbsnp6007 PELI2_HUMAN;NP_067078.1 "A280T,E21D,E407K,R209H,V190I" "0,0,0,0,0" 57161 7222 spmut1511;dbsnp24039 PERP1_HUMAN;NP_057543.2 I17T 0 51237 13189 spmut1514;dbsnp14440 PEX19_HUMAN;NP_002848.1 "A85V,E6K,G293A,P39S,S286W" "0,0,0,0,0" 5824 10891 spmut1526;dbsnp27979 PHAG1_HUMAN;NP_060910.3 "A279G,A4V,E281K,R237H,T207S,T404S,V151A" "0,0,0,0,0,0,0" 55824 7912 spmut1529;dbsnp10179 PHOP1_HUMAN;NP_848595.1 "A110E,E70K" "0,0" 162466 11058 spmut1530;dbsnp29305 PHP14_HUMAN;NP_054891.2 "E39D,P114S,V12A,V3A,V3G" "0,0,0,0,0" 29085 14330 spmut1535;dbsnp11431 PIAS4_HUMAN;NP_056981.2 "A463T,C342W,G440R,K128M,N430S,P100Q,P373S,P434L,P77L,R413H,V223I" "0,0,0,0,0,0,0,0,0,0,0" 51588 6471 spmut1536;dbsnp17873;dbsnp17874;dbsnp17875;hgmd0613_1626 PICK1_HUMAN;NP_001034673.1;NP_001034672.1;NP_036539.1 "E218K,R185Q,R197Q" "0,0,0" 9463 8280 spmut1547;dbsnp2413 PITM1_HUMAN;NP_004901.2 "A1172V,A531T,C576R,D302N,E788D,P1221L,P550L,R178Q,R548C,R685H,R883Q,T389M,V463I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9600 1300 spmut1549;dbsnp14833 PK3CD_HUMAN;NP_005017.3 "F146I,G772S,G958D,R601Q,S312C,T706N,V1031A,V20I,V296I,V370M" "0,0,0,0,0,0,0,0,0,0" 5293 1818 spmut154;dbsnp25855 ASF1A_HUMAN;NP_054753.1 D155Y 0 25842 12878 spmut1572;dbsnp17902 PLPP_HUMAN;NP_064711.1 "A109V,A139V,A197S,A272V,D277N,Y217F" "0,0,0,0,0,0" 57026 10961 spmut1586;dbsnp22435;hgmd0613_2075 PORED_HUMAN;NP_078868.1 "A117V,H309D,Y189S" "0,0,0" 79644 10445 spmut1589;dbsnp19193 PP1R7_HUMAN;NP_002703.1 "K287R,Q187H,R123Q,T277M,V343I,Y86C" "0,0,0,0,0,0" 5510 9426 spmut1590;dbsnp15076 PP1R8_HUMAN;NP_054829.2 "M292I,S272T" "0,0" 5511 9633 spmut1592;dbsnp8480 PP4C_HUMAN;NP_002711.1 F217C 0 5531 9872 spmut1594;dbsnp6203 PP4R4_HUMAN;NP_478144.1 "A816V,E367A,G808E,I119V,I56T,P4L,P5L,P839L,R733C,T614A,Y370C" "0,0,0,0,0,0,0,0,0,0,0" 57718 2753 spmut1599;dbsnp19075;dbsnp19077;dbsnp19078 PPCEL_HUMAN;NP_006027.2;NP_001165074.1;NP_001165077.1 "A665T,D281N,D468H,E603D,E708K,I412V,K239N,K50M,K621R,L28V,L706V,M395T,N139S,N403Y,N590S,Q26K,R445L,S571F,V496F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9581 3815 spmut159;dbsnp22351 ASIC5_HUMAN;NP_059115.1 "C22F,E203A,F188L,I254M,I429K,I80F,I96T,I96V,K25R,P264T,P31L,P383L,R61H,T4I,Y466C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51802 6565 spmut1603;dbsnp15779 PPIH_HUMAN;NP_006338.1 T127I 0 10465 10568 spmut1606;dbsnp9590 PPM1D_HUMAN;NP_003611.1 "I496V,K469E,L120F,P322Q,S376F,T501A" "0,0,0,0,0,0" 8493 5083 spmut1610;dbsnp19860 PPR1C_HUMAN;NP_001074014.1 N45T 0 151242 14546 spmut1633;dbsnp3008 PRS6A_HUMAN;NP_002795.2 "A330P,I329M,L343H,L343P,R362W" "0,0,0,0,0" 5702 7789 spmut1635;dbsnp17820 PRVA_HUMAN;NP_002845.1 "A41V,G65R" "0,0" 5816 14534 spmut1636;dbsnp16513 PSA7_HUMAN;NP_002783.1 R125K 0 5688 11792 spmut1637;dbsnp9193 PSA_HUMAN;NP_006301.3 "E873Q,R267C" "0,0" 9520 2506 spmut1640;dbsnp30605 PSD10_HUMAN;NP_002805.1 G129R 0 5716 12422 spmut1641;dbsnp28738;dbsnp28740 PSIP1_HUMAN;NP_150091.2;NP_001121689.1 "A484P,K254R,L478V,Q472L,S116R,S275F" "0,0,0,0,0,0" 11168 6135 spmut1647;dbsnp28910 PTGES_HUMAN;NP_004869.1 "A148V,S5N,V7E" "0,0,0" 9536 13888 spmut1648;dbsnp6252;dbsnp6253;dbsnp6254 PTGR2_HUMAN;NP_001139627.1;NP_689657.1;NP_001139626.1 "F202S,K315E,P266L,Q255K" "0,0,0,0" 145482 9634 spmut1670;dbsnp12210 PVRL2_HUMAN;NP_001036189.1 "D496N,R222C,R286H,S321G,T178M,T178R" "0,0,0,0,0,0" 5819 6019 spmut1671;dbsnp7172 PX11A_HUMAN;NP_003838.1 "M146R,R83C,R93H" "0,0,0" 8800 11980 spmut1678;dbsnp3236 RAB1B_HUMAN;NP_112243.1 D189N 0 81876 12818 spmut1679;dbsnp4510 RAB21_HUMAN;NP_055814.1 "A190E,E139A,N112I,S224F" "0,0,0,0" 23011 12441 spmut1681;dbsnp25725 RAB32_HUMAN;NP_006825.1 "D123N,E164Q,H129L,R186L,Y96C" "0,0,0,0,0" 10981 12442 spmut1684;dbsnp21223 RAB5A_HUMAN;NP_004153.2 "A6T,N125K,R195G,T14S" "0,0,0,0" 5868 11934 spmut1686;dbsnp2779 RAB6A_HUMAN;NP_942599.1 G205A 0 5870 11823 spmut1702;dbsnp27283 RALA_HUMAN;NP_005393.2 A2T 0 5898 12837 spmut1709;dbsnp5269 RASA3_HUMAN;NP_031394.2 "F486L,H116Y,Q774R,R824Q,R824W,S766L,T779M,T779R,V577M" "0,0,0,0,0,0,0,0,0" 22821 2904 spmut170;dbsnp21597 ATG3_HUMAN;NP_071933.2 I126L 0 64422 10564 spmut1710;dbsnp10090 RASD1_HUMAN;NP_057168.1 "R48S,S13R" "0,0" 51655 11255 spmut1718;dbsnp16750 RBBP9_HUMAN;NP_006597.2 "A7V,D102A,R116C,V27G" "0,0,0,0" 10741 13245 spmut1723;dbsnp30101 RBMX_HUMAN;NP_002130.2 "D333Y,G132C,G356W,G379R,L199P,P155S,P301L,P358S,R196G,R6C,V205D,Y320C" "0,0,0,0,0,0,0,0,0,0,0,0" 27316 13070 spmut1726;dbsnp15044;dbsnp15047 RCC1_HUMAN;NP_001041664.1;NP_001260.1 "A245P,A245T,D382E,E383K,R237Q" "0,0,0,0,0" 1104 7563 spmut1730;dbsnp4507 REBL1_HUMAN;NP_653194.1 I76T 0 121268 13290 spmut1740;dbsnp9679 RFFL_HUMAN;NP_001017368.1 "N303S,N69K,P189Q,R124Q,R147H" "0,0,0,0,0" 117584 9346 spmut1743;dbsnp7769 RFIP3_HUMAN;NP_055515.1 "A482S,D362N,E575Q,R525H,R675H,T420P,T480M" "0,0,0,0,0,0,0" 9727 3559 spmut1744;dbsnp10000 RFIP4_HUMAN;NP_116321.2 "A624T,A97T,A97V,E501K,E501Q,K491N,T143M,V426L" "0,0,0,0,0,0,0,0" 84440 4724 spmut1745;dbsnp7553;dbsnp7554 RFOX1_HUMAN;NP_001135806.1;NP_061193.2 "A26D,A327T,A345T,G353S,P18A,P24S,P46H,P48S,P59S" "0,0,0,0,0,0,0,0,0" 54715 7583 spmut1748;dbsnp4733;dbsnp4734;dbsnp4735 RGAP1_HUMAN;NP_001119576.1;NP_001119575.1;NP_037409.2 "D69N,E231K,E94K,F37Y,H49R,H583R,S559A,T564A" "0,0,0,0,0,0,0,0" 29127 4774 spmut1749;dbsnp5371 RGCC_HUMAN;NP_054778.2 A80T 0 28984 14136 spmut1750;dbsnp30550;dbsnp30551 RGN_HUMAN;NP_690608.1;NP_004674.1 "D151E,I152N,R101C,R190H,R226L" "0,0,0,0,0" 9104 10892 spmut1756;dbsnp16514;dbsnp16515 RGS19_HUMAN;NP_001034556.1;NP_005864.1 "Q132H,R19G" "0,0" 10287 8845 spmut1758;dbsnp6139 RGS6_HUMAN;NP_004287.3 "E361K,G6R,I261F,M70L,R222H,R347Q,V236M" "0,0,0,0,0,0,0" 9628 6742 spmut175;dbsnp3104 ATLA3_HUMAN;NP_056274.3 "A508T,C388Y,I362V,R412H,V238G" "0,0,0,0,0" 25923 5367 spmut1767;dbsnp8272 RHG17_HUMAN;NP_001006635.1 "A522T,G490E,G683S,H745D,N594S,N783I,P369S,P643L,R510Q,V350G,V535M" "0,0,0,0,0,0,0,0,0,0,0" 55114 2710 spmut1769;dbsnp22436;hgmd0613_581 RHG24_HUMAN;NP_001020787.2 "D139V,D368G,E3G,E56G,F539L,G473V,G67E,L418V,M355I,M696K,P417A,Q359R,R142H,R298C,R483H,R622H,S439G,T452I,T474M,T481M,V420I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83478 3629 spmut1770;dbsnp2702 RHG32_HUMAN;NP_001136157.1 "C1372G,C1372R,D1281Y,D1480N,D1913G,D373A,E1140G,G1844S,H1396Q,H1993R,I615V,I907L,M1530I,N1722S,P1898L,Q1151H,Q1154R,Q2057R,Q932P,R1206H,R1298H,R1387Q,R1712W,R1826H,S1215P,S1251F,S1847T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9743 384 spmut1772;dbsnp19642 RHOB_HUMAN;NP_004031.1 H126Q 0 388 13059 spmut1773;dbsnp19767 RHOQ_HUMAN;NP_036381.2 I143V 0 23433 12659 spmut1776;dbsnp1935 RIN1_HUMAN;NP_004283.2 "A76T,D537N,E750Q,H596Y,P647T,P686S,R238Q,R238W,R410Q,R504C,R608C,R702H,R703W,R749W,R779W,V269M,V546I,V700I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9610 3333 spmut1787;dbsnp8402 RMI2_HUMAN;NP_689521.1 N145S 0 116028 13978 spmut1789;dbsnp19214 RN103_HUMAN;NP_005658.1 "C658F,E91A,G133R,I307M,L425V,N450S,P477S,Q523H,R298G,R440C,T216N,T535I,V560I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7844 4220 spmut1791;dbsnp10625 RN125_HUMAN;NP_060301.2 "P85S,R165Q,R165W,R174H,R190S,R220W,Y149D" "0,0,0,0,0,0,0" 54941 12296 spmut1795;dbsnp2979 RN169_HUMAN;NP_001092108.1 I345T 0 254225 4005 spmut1796;dbsnp15725 RN187_HUMAN;NP_001010858.2 R147W 0 149603 12234 spmut17;dbsnp3417 AAKB1_HUMAN;NP_006244.2 "A75T,G27V,P137L,P20A,S25P,V168L" "0,0,0,0,0,0" 5564 11437 spmut1801;dbsnp21540;dbsnp21541 RNF13_HUMAN;NP_009213.1;NP_899237.1 "D160G,I203T,P186S,R219C,R219H,V173I,V95L" "0,0,0,0,0,0,0" 11342 8959 spmut1802;dbsnp23925;dbsnp23926;dbsnp23927;dbsnp23929;dbsnp23930 RNF14_HUMAN;NP_899647.1;NP_899648.1;NP_004281.1;NP_001188294.1;NP_899646.1 "G277S,Q209K,T101S,V154A,V472L" "0,0,0,0,0" 9604 7133 spmut1803;dbsnp19007 RNF25_HUMAN;NP_071898.2 "E170G,E203D,E317G,E388Q,E454Q,G429S,I251V,P307L,P340H,P375L,P433R,Q180R,Q69R,R184W,R248Q,R352Q,R415W,R434C,S343T,V104M,V196L,V300I,Y207S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64320 7421 spmut1804;dbsnp4438 RNF34_HUMAN;NP_079402.2 "D234E,D322E,D334N,G37S,K295R,R177H" "0,0,0,0,0,0" 80196 9145 spmut1805;dbsnp4350;dbsnp4352;dbsnp4353 RNF41_HUMAN;NP_919340.1;NP_005776.1;NP_001229755.1 "K136N,R148H,T6A" "0,0,0" 10193 10480 spmut1806;dbsnp25829 RNF5_HUMAN;NP_008844.1 "I171V,R61Q" "0,0" 6048 13146 spmut1810;dbsnp8144;dbsnp8145 RNPS1_HUMAN;NP_006702.1;NP_542161.1 "R305Q,S39C,V208I" "0,0,0" 10921 10760 spmut1815;dbsnp21484 ROP1B_HUMAN;NP_001012337.1 "A60T,I140T,R112H,R46H" "0,0,0,0" 152015 12702 spmut1817;dbsnp15086 RORG_HUMAN;NP_005051.2 "A357V,A464G,E435G,S250N" "0,0,0,0" 6097 6347 spmut1822;dbsnp19334 RPE_HUMAN;NP_954699.1 "D15G,D205N,K106E,R109W" "0,0,0,0" 6120 12363 spmut1823;dbsnp29415 RPGF1_HUMAN;NP_005303.2 "G517D,L234V,M568I,P607L,R308Q" "0,0,0,0,0" 2889 1730 spmut1828;dbsnp15910 RRAGC_HUMAN;NP_071440.1 V264I 0 64121 8585 spmut1829;dbsnp25616 RRAGD_HUMAN;NP_067067.1 "E369Q,G34V,V326M" "0,0,0" 58528 8585 spmut1832;dbsnp11887 RS11_HUMAN;NP_001006.1 P34T 0 6205 13769 spmut1837;dbsnp6908 RTF1_HUMAN;NP_055953.3 "E203K,T383A,V402I" "0,0,0" 23168 3974 spmut1843;dbsnp12794 RUVB2_HUMAN;NP_006657.1 R314W 0 10856 7353 spmut1844;dbsnp22512 RXFP1_HUMAN;NP_067647.2 "L173R,T559I,Y432F" "0,0,0" 59350 3325 spmut1868;dbsnp11914 SAE1_HUMAN;NP_005491.1 "D193N,E227D,E69K,K228R,N54H,P288A,P288R,T261K,V292A" "0,0,0,0,0,0,0,0,0" 10055 9773 spmut1870;dbsnp22831 SAP30_HUMAN;NP_003855.1 A47S 0 8819 12534 spmut1873;dbsnp30610 SAT1_HUMAN;NP_002961.1 "A12D,A12T,E131G,I35V" "0,0,0,0" 6303 13529 spmut1874;dbsnp20888;dbsnp20889 SATB1_HUMAN;NP_001124482.1;NP_002962.1 "A279G,S292G,S366L" "0,0,0" 6304 3252 spmut1878;dbsnp29517 SC61B_HUMAN;NP_006799.1 A44V 0 10952 14714 spmut187;dbsnp16874 B2CL1_HUMAN;NP_612815.1 R6Q 0 598 12275 spmut1887;dbsnp3438 SDHL_HUMAN;NP_006834.2 "A230S,A276T,G110D,K21T,N324D,V81I" "0,0,0,0,0,0" 10993 10171 spmut1888;dbsnp4634 SDSL_HUMAN;NP_612441.1 "A209V,A236T,A25V,D134G,G108A,L216P,L291I,R237Q,R289Q,S259N,S285L,V29G" "0,0,0,0,0,0,0,0,0,0,0,0" 113675 10171 spmut188;dbsnp19599 B2L11_HUMAN;NP_619527.1 "M142R,R185G" "0,0" 10018 13009 spmut1898;dbsnp22850 SEP11_HUMAN;NP_060713.1 T291P 0 55752 6955 spmut18;dbsnp14874 AAKB2_HUMAN;NP_005390.1 "G55E,V155I" "0,0" 5565 11437 spmut1901;dbsnp19131;dbsnp19132;dbsnp19133;dbsnp19134 SEPT2_HUMAN;NP_004395.1;NP_001008491.1;NP_001008492.1;NP_006146.1 "G358R,L23H,L23P,P69S,V361M" "0,0,0,0,0" 4735 6795 spmut1903;dbsnp4503;dbsnp4505 SESQ1_HUMAN;NP_653272.2;NP_001171468.1 "A128V,A32T,S213L" "0,0,0" 144717 11653 spmut1912;dbsnp19008 SF3B1_HUMAN;NP_036565.2 "D40A,G209D" "0,0" 23451 1158 spmut1914;dbsnp7576 SGF29_HUMAN;NP_612423.1 "Q23H,S29L,Y190C" "0,0,0" 112869 11028 spmut1925;dbsnp29535 SH3G2_HUMAN;NP_003017.1 G276V 0 6456 9244 spmut1928;dbsnp29308 SHB_HUMAN;NP_003019.2 "A146T,G305A,S155F,S367L" "0,0,0,0" 6461 6492 spmut1932;dbsnp15777 SHLB1_HUMAN;NP_057093.1 N92S 0 51100 8690 spmut1937;dbsnp12602 SIG14_HUMAN;NP_001092082.1 "A364P,A364V,D79E,V357I,V72A" "0,0,0,0,0" 100049587 5820 spmut193;dbsnp8961 BACD2_HUMAN;NP_066960.1 "H49Y,K14T,R289Q" "0,0,0" 7126 10176 spmut1945;dbsnp12097 SIR2_HUMAN;NP_036369.2 "A133S,A135T,A198T,I87F,L344I,L44F,P373L,R153H" "0,0,0,0,0,0,0,0" 22933 8823 spmut1949;dbsnp10107 SIR7_HUMAN;NP_057622.1 "E256K,P368L,R393H,T181M,V199I" "0,0,0,0,0" 51547 8586 spmut1950;dbsnp29400 SIT1_HUMAN;NP_055265.1 "A174S,E156K,E165K,Q136K,Q186R,R7W" "0,0,0,0,0,0" 27240 13060 spmut1951;dbsnp5822 SIVA_HUMAN;NP_006418.2 "A50T,T141S,V121M" "0,0,0" 10572 13459 spmut1954;dbsnp15024 SLAF5_HUMAN;NP_001171808.1 "G337E,I343T,L248V,N30I,P72L,Q289R,T288I,V319M" "0,0,0,0,0,0,0,0" 8832 9799 spmut1955;dbsnp15716 SLAF6_HUMAN;NP_001171643.1 "Q6R,R261Q" "0,0" 114836 10099 spmut1958;dbsnp22466 SLBP_HUMAN;NP_006518.1 "R69C,S77N" "0,0" 7884 11488 spmut1961;dbsnp8420 SLX1_HUMAN;NP_001014999.1 M253V 0 548593 11374 spmut1968;dbsnp10665 SMAD7_HUMAN;NP_005895.1 "G402V,P221T,T222A" "0,0,0" 4092 8021 spmut196;dbsnp28056 BAG4_HUMAN;NP_004865.1 "A107V,P199A,R185H" "0,0,0" 9530 7457 spmut1972;dbsnp22658 SMCA5_HUMAN;NP_003592.3 "F92L,K600N" "0,0" 8467 1875 spmut1978;dbsnp9947 SMUF2_HUMAN;NP_073576.1 "A169T,I142V,N105S,N105T" "0,0,0,0" 64750 3549 spmut1985;dbsnp7190 SNPC5_HUMAN;NP_006040.1 "D97H,E12K,E12V" "0,0,0" 10302 14681 spmut1990;dbsnp19522 SNX17_HUMAN;NP_055563.1 "D408A,E96K,E96Q,G342A,N24H,N294K,S194C" "0,0,0,0,0,0,0" 9784 7207 spmut1993;dbsnp23116 SNX2_HUMAN;NP_003091.2 "A384S,E4D,N136D,N55I" "0,0,0,0" 6643 5741 spmut1995;dbsnp21093 SNX4_HUMAN;NP_003785.1 "M324T,V285A" "0,0" 8723 7596 spmut1997;dbsnp25514 SNX9_HUMAN;NP_057308.1 "A513G,D180N,G102D,N118H,R340H,R591H,S197N,S282P,S452R,T418M" "0,0,0,0,0,0,0,0,0,0" 51429 5199 spmut1999;dbsnp19329;dbsnp19330 SOCS5_HUMAN;NP_054730.1;NP_659198.1 "E42D,P52S,R178T,R267T,T145S" "0,0,0,0,0" 9655 6047 spmut2011;dbsnp7237;dbsnp7239 SPG21_HUMAN;NP_057714.1;NP_001121361.1 "A180T,A282V" "0,0" 51324 10692 spmut2014;dbsnp7054;dbsnp7055;dbsnp7056 SPN1_HUMAN;NP_005692.1;NP_001036046.1;NP_001036053.1 "D168H,G269R,K314E,N160S,N234I,P236S,P294L,R204Q,R27C,R43C,R45W,T341P,V111I,V122I,V185I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10073 9427 spmut2015;dbsnp10219 SPNS2_HUMAN;NP_001118230.1 A417T 0 124976 5860 spmut2020;dbsnp1230 SPS1_HUMAN;NP_036379.2 "A151T,Y345C" "0,0" 22929 7630 spmut2021;dbsnp15895 SPSB1_HUMAN;NP_079382.2 T18M 0 80176 11419 spmut2023;dbsnp12117;dbsnp12118;dbsnp12119 SPT5H_HUMAN;NP_001104490.1;NP_001124296.1;NP_003160.2 "R198C,R757C,S277F" "0,0,0" 6829 1765 spmut202;dbsnp26959 BAZ1B_HUMAN;NP_115784.1 "G948V,H397L,H939Y,I169T,I190F,K588E,N938S,R1339Q,R1340K,S508G,T983I" "0,0,0,0,0,0,0,0,0,0,0" 9031 855 spmut2032;dbsnp16835 SRXN1_HUMAN;NP_542763.1 I50V 0 140809 14137 spmut2048;dbsnp19617;dbsnp19618;dbsnp19619;hgmd0613_1511 STABP_HUMAN;NP_998787.1;NP_006454.1;NP_964010.1 "E167K,Q155H,R255H,R262Q" "0,0,0,0" 10617 7841 spmut2064;dbsnp16492 STK35_HUMAN;NP_543026.2 "A392T,R69G" "0,0" 140901 6078 spmut2072;dbsnp21494 SUCR1_HUMAN;NP_149039.2 "L26F,R129Q,R252Q,T166I,T42A" "0,0,0,0,0" 56670 10049 spmut2082;dbsnp29246 SWI5_HUMAN;NP_001035100.1 "A38S,L190V,N73K,Q2P,R20C,T63A,V51L" "0,0,0,0,0,0,0" 375757 12235 spmut2085;dbsnp2607 SYTL2_HUMAN;NP_001156423.1 "A137V,A57T,I234F,I306V,Q212R,Q378R,R21W,R288H,R484C,S335C,S424L,T245I,V353A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54843 1224 spmut2087;dbsnp3017 SYVN1_HUMAN;NP_757385.1 "A502T,L78Q,P346L,P467L,T548I" "0,0,0,0,0" 84447 4951 spmut2100;dbsnp7942 TAOK2_HUMAN;NP_057235.2 "A625V,A703V,D259E,E404D,L802Q,M401V,P778A,P778S,Q813R,R1163Q,R1211H,R84Q,V1129I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9344 1325 spmut2102;dbsnp16395 TASP1_HUMAN;NP_060184.2 "G230S,G292R,K326R,S21L" "0,0,0,0" 55617 8158 spmut2105;dbsnp7975 TB10B_HUMAN;NP_056342.3 "D441E,E211D,E68Q,F528L,R631Q,R728Q,R742L,R753Q,R767W" "0,0,0,0,0,0,0,0,0" 26000 3158 spmut2106;dbsnp3162 TB10C_HUMAN;NP_940919.1 "A321T,D355N" "0,0" 374403 7658 spmut2110;dbsnp12726 TBCB_HUMAN;NP_001272.2 "H86Q,T4M,Y197N" "0,0,0" 1155 12039 spmut2121;dbsnp5279;dbsnp5280 TDRD3_HUMAN;NP_001139543.1;NP_110421.1 "G351R,G468V,G617D,I525V,M21V,N315H,R322Q,R506Q" "0,0,0,0,0,0,0,0" 81550 3667 spmut2127;dbsnp27690 TERF1_HUMAN;NP_059523.2 "D334E,E438K,L430V,N205D,P369L,R376Q" "0,0,0,0,0,0" 7013 7782 spmut2136;dbsnp25570 TFB1M_HUMAN;NP_057104.2 "H137R,I139V,L326F,R106K,R193H,R207Q,R256Q,S8G" "0,0,0,0,0,0,0,0" 51106 9774 spmut2139;dbsnp30206 TFDP3_HUMAN;NP_057605.3 "E20Q,G364E,H147Y,Q195H" "0,0,0,0" 51270 8493 spmut213;dbsnp4682 BI1_HUMAN;NP_003208.2 "A12G,M38V,T121M" "0,0,0" 7009 10988 spmut2147;dbsnp16882;dbsnp16883;dbsnp16884;dbsnp16885 TGIF2_HUMAN;NP_068581.1;NP_001186444.1;NP_001186443.1;NP_001186442.1 V113M 0 60436 12184 spmut2151;dbsnp13928 THAP3_HUMAN;NP_001182682.1 "A116V,A66T,D86N,E32Q,L229F,Q227R,R219C,T52M,T95A" "0,0,0,0,0,0,0,0,0" 90326 12148 spmut2154;dbsnp10309 THOC1_HUMAN;NP_005122.2 "N653H,P561L" "0,0" 9984 4513 spmut2162;dbsnp15264 TIPRL_HUMAN;NP_690866.1 T96M 0 261726 11439 spmut2165;dbsnp29255 TLE1_HUMAN;NP_005068.2 "A392T,A437S,G163S,H395Q,P142S,R646C,S234P,S258F,S642F,T328M,T657S" "0,0,0,0,0,0,0,0,0,0,0" 7088 3429 spmut2172;dbsnp30616;hgmd0613_1878 TMLH_HUMAN;NP_060666.1 "I150L,R93H,T235N" "0,0,0" 55217 8139 spmut2183;dbsnp759 TNKS2_HUMAN;NP_079511.1 "D1165N,G559C,L432F,V542M,V584I,V882I" "0,0,0,0,0,0" 80351 1112 spmut2195;dbsnp28261 TP4A3_HUMAN;NP_116000.1 "G78S,H164Q,P57L,P7L,R169W" "0,0,0,0,0" 11156 13490 spmut2197;dbsnp4685 TPC1_HUMAN;NP_060371.2 "A132E,A385S,A802S,G40S,H474Y,M755T,R731W,S178L,T115M" "0,0,0,0,0,0,0,0,0" 53373 2673 spmut2205;dbsnp29259 TRAF2_HUMAN;NP_066961.2 "A264T,A4P,D488N,P157L,T134A" "0,0,0,0,0" 7186 6643 spmut2207;dbsnp2677;dbsnp2678 TRAF6_HUMAN;NP_004611.1;NP_665802.1 "I203N,I203T,I95L,M160T,S279N" "0,0,0,0,0" 7189 6261 spmut2219;dbsnp19408 TRIPC_HUMAN;NP_004229.1 "A560V,E1102G,I778T,R325C,R372G,R372W,S301R,T202A,T593M,Y1015H" "0,0,0,0,0,0,0,0,0,0" 9320 428 spmut2220;dbsnp4746 TRMB_HUMAN;NP_005362.3 "N140S,P16H,P178L,R246H" "0,0,0,0" 4234 11353 spmut2244;dbsnp27081 TTYH3_HUMAN;NP_079526.1 "A276T,H411R,P337L,T339A,V278M,W25G" "0,0,0,0,0,0" 80727 6243 spmut2246;dbsnp10060 TX1B3_HUMAN;NP_055419.1 "L123P,R59W" "0,0" 30851 14344 spmut2247;dbsnp15344 TXD12_HUMAN;NP_056997.1 "I22T,T10I,T10S,T80M,T80S" "0,0,0,0,0" 51060 13508 spmut2248;dbsnp10145 TXD17_HUMAN;NP_116120.1 "F31C,K25N,V7M" "0,0,0" 84817 14361 spmut224;dbsnp6483 BNC1_HUMAN;NP_001708.3 "A550T,A693V,F284Y,G258E,K736R,L522H,L642S,L772I,N348S,P308L,R611H,R826Q,R953Q,S787G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 646 2131 spmut2262;dbsnp10943 U2AF2_HUMAN;NP_009210.1 D401E 0 11338 7113 spmut2264;dbsnp22555;dbsnp22557;dbsnp22559;dbsnp22560;dbsnp22561;dbsnp22562;dbsnp22563 UB2D3_HUMAN;NP_871617.1;NP_871616.1;NP_871615.1;NP_003331.1;NP_871619.1;NP_871618.1;NP_871620.1 Q34K 0 7323 12810 spmut226;dbsnp24732 BPHL_HUMAN;NP_004323.2 "A127V,A145S,D221A,L276S,N165D,N283S,N85Y,R263W,R277H" "0,0,0,0,0,0,0,0,0" 670 11077 spmut2271;dbsnp21126 UBA5_HUMAN;NP_079094.1 "A228V,A371T,D67N" "0,0,0" 79876 8509 spmut2280;dbsnp4184 UBE2N_HUMAN;NP_003339.1 P46R 0 7334 13874 spmut2281;dbsnp12335 UBE2S_HUMAN;NP_055316.2 E176A 0 27338 12496 spmut2282;dbsnp15906 UBE2T_HUMAN;NP_054895.1 P58A 0 29089 13036 spmut2284;dbsnp26935 UBE3C_HUMAN;NP_055486.2 "A359T,I391V,I524V,L132M,M593V,R469Q,S125G,S474A" "0,0,0,0,0,0,0,0" 9690 1775 spmut2288;dbsnp30509 UBP11_HUMAN;NP_004642.2 "C37Y,E918K,P867L,S733P,S733T,V690I" "0,0,0,0,0,0" 8237 2268 spmut2289;dbsnp5324 UBP12_HUMAN;NP_872294.2 "R152H,V7I" "0,0" 219333 9202 spmut2290;dbsnp21318 UBP13_HUMAN;NP_003931.2 "A107V,A516P,P631T,R217Q,V495M,W182R" "0,0,0,0,0,0" 8975 2810 spmut2291;dbsnp3748 UBP15_HUMAN;NP_001239007.1 "D636H,G720S,I437T,N539H,Q285E" "0,0,0,0,0" 9958 2180 spmut2293;dbsnp22781 UBP17_HUMAN;NP_001229255.1 "C254S,H412Y,L487Q,P310Q,Q430H,S357A,S364T,S492T" "0,0,0,0,0,0,0,0" 728373 5710 spmut2294;dbsnp14327;dbsnp14328;dbsnp14329 UBP1_HUMAN;NP_003359.3;NP_001017415.1;NP_001017416.1 "A227T,G369A,I666V,K169R,L560V,N325D,N364K,N76D,P2S,T480A,V737M" "0,0,0,0,0,0,0,0,0,0,0" 7398 3318 spmut2297;dbsnp17011 UBP25_HUMAN;NP_037528.3 "A940T,D471N,E1024K,E549Q,H1000Y,H926Y,K977Q,P738T,P773L,S618N,T19R" "0,0,0,0,0,0,0,0,0,0,0" 29761 1873 spmut2299;dbsnp2365 UBP28_HUMAN;NP_065937.1 "A785T,A83S,D969Y,F232L,F232S,I177T,I782M,K839E,N152S,N325S,Q35R,Q682R,R732H,R755H,S479L,V1042I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57646 1790 spmut2302;dbsnp15650 UBP33_HUMAN;NP_055832.3 "G23R,I483V,I527M,K721R,N145D,R744Q,T9M,V633I" "0,0,0,0,0,0,0,0" 23032 2379 spmut230;dbsnp4090 BRAP_HUMAN;NP_006759.3 "D249Y,M172V,Q558K,R209C,V45I" "0,0,0,0,0" 8315 5247 spmut2310;dbsnp8163 UBP7_HUMAN;NP_003461.2 "D764A,K938Q" "0,0" 7874 1702 spmut2316;dbsnp5171 UCHL3_HUMAN;NP_005993.1 T118P 0 7347 12328 spmut2322;dbsnp19458 UGGG1_HUMAN;NP_064505.1 "A669V,A849S,E512A,E582D,E918K,E982D,F665L,H566Y,K1237R,K1283E,L36V,N1139S,P1188L,P338S,R616Q,R704Q,V878M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56886 774 spmut2334;dbsnp471 US6NL_HUMAN;NP_055503.1 "E122G,K602R,P395L,Q5P,T648I,T747M" "0,0,0,0,0,0" 9712 2931 spmut2342;dbsnp8329 VAC14_HUMAN;NP_060522.3 "I120V,L89F,R575W,R766Q,S770N" "0,0,0,0,0" 55697 3344 spmut2343;dbsnp6306 VASH1_HUMAN;NP_055724.1 "E35K,K103R,T111M,T309M" "0,0,0,0" 22846 9302 spmut2347;dbsnp22465 VEGFC_HUMAN;NP_005420.1 "E47V,P355R,R61Q,Y218N" "0,0,0,0" 7424 8179 spmut2359;dbsnp4170 VPS29_HUMAN;NP_057310.1 "V74F,Y48C" "0,0" 51699 13247 spmut2360;dbsnp5145 VPS36_HUMAN;NP_057159.2 "I263V,Q20K" "0,0" 51028 8876 spmut2361;dbsnp8479 VPS4A_HUMAN;NP_037377.1 D391N 0 27183 7691 spmut2363;dbsnp6115;hgmd0613_1061 VRK1_HUMAN;NP_003375.1 "D191N,K301E,L341F,M286I,S59A" "0,0,0,0,0" 7443 8669 spmut2365;dbsnp15132 WASF2_HUMAN;NP_008921.1 "E122Q,N280K,P247L,P419L,T346M" "0,0,0,0,0" 10163 5712 spmut2366;dbsnp29290 WASH1_HUMAN;NP_878908.4 "L448V,S263I,V294A,V439A,W362R,W463C" "0,0,0,0,0,0" 100287171 7303 spmut2367;dbsnp18839 WBP1_HUMAN;NP_036609.1 "A80S,C73W,D211N,G213S,G223R,H185N,P140A,P201A,T195S" "0,0,0,0,0,0,0,0,0" 23559 11510 spmut2373;dbsnp15258 WNT3A_HUMAN;NP_149122.1 "A134T,K51R,R141H,S140N" "0,0,0,0" 89780 9612 spmut2378;dbsnp8084 WWP2_HUMAN;NP_008945.2 "A172P,D147G,G226D,H401R,K828R,N313S,P265L,P50S,Q777H,R178Q,R215W,R37L,R542H,S197L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11060 1134 spmut2379;dbsnp20108;dbsnp20109;dbsnp20110 WWTR1_HUMAN;NP_056287.1;NP_001161752.1;NP_001161750.1 "D329N,M182V,N208T,P74Q,P9L,T285S" "0,0,0,0,0,0" 25937 8587 spmut237;dbsnp2165 BRSK2_HUMAN;NP_001243556.1 "G578A,P434L,T730A" "0,0,0" 9024 3380 spmut2384;dbsnp19882 XPO1_HUMAN;NP_003391.1 "L408I,Q742K" "0,0" 7514 1816 spmut2387;dbsnp17580 XRCC6_HUMAN;NP_001460.1 "A513T,I72F,I72L,M348I,Y559H" "0,0,0,0,0" 2547 5033 spmut2390;dbsnp2864 YAP1_HUMAN;NP_001123617.1 "N299S,N339D,P278S,T119A" "0,0,0,0" 10413 6589 spmut2391;dbsnp15738 YBOX1_HUMAN;NP_004550.2 "E179D,G227V,R283C" "0,0,0" 4904 9159 spmut2393;dbsnp25998 YKT6_HUMAN;NP_006546.1 "L9F,S102C,V17G,V25M,Y10C,Y64C" "0,0,0,0,0,0" 10652 13010 spmut2405;dbsnp22756 ZN363_HUMAN;NP_056251.2 H188R 0 25898 11682 spmut2406;dbsnp26914 ZN746_HUMAN;NP_689770.3 "E217A,G161D,K51N,N90D,R158C,R158H,T278A,T454P" "0,0,0,0,0,0,0,0" 155061 4642 spmut2409;dbsnp17775 ZNRF3_HUMAN;NP_001193927.1 "A346T,H327Q,H426Q,H637R" "0,0,0,0" 84133 2406 spmut2413;dbsnp985 ZRAN1_HUMAN;NP_060050.2 "E644K,H152R,K167T,V239M,V49I" "0,0,0,0,0" 54764 4006 spmut2414;dbsnp15904 ZY11B_HUMAN;NP_078922.1 "R234Q,R621H" "0,0" 79699 3529 spmut267;dbsnp9735 CASC3_HUMAN;NP_031385.2 "G22A,G22D,L617F,L617V,P478L" "0,0,0,0,0" 22794 4053 spmut283;dbsnp9923 CBX4_HUMAN;NP_003646.2 "A314P,A314V,E283D,S192N,S291P" "0,0,0,0,0" 8535 5688 spmut291;dbsnp24140 CCNB1_HUMAN;NP_114172.1 "A203T,I230M,M130V,M62I,V74L" "0,0,0,0,0" 891 7897 spmut292;dbsnp1627 CCND1_HUMAN;NP_444284.1 "N130D,N216K" "0,0" 595 10984 spmut296;dbsnp19773 CCNT2_HUMAN;NP_490595.1 "G727A,K689Q,S566G" "0,0,0" 905 3782 spmut297;dbsnp1032 CCNY_HUMAN;NP_659449.3 "A320T,R317G" "0,0" 219771 9881 spmut302;dbsnp3207;dbsnp3208 CD20_HUMAN;NP_068769.2;NP_690605.1 V212I 0 931 10937 spmut325;dbsnp4728 CDKA1_HUMAN;NP_004633.1 S21N 0 8099 14471 spmut336;dbsnp19855 CENPA_HUMAN;NP_001800.1 R52Q 0 1058 14086 spmut342;dbsnp15142;dbsnp15143 CEPT1_HUMAN;NP_006081.1;NP_001007795.1 "I120V,R61Q,S409A,T40I" "0,0,0,0" 10390 8262 spmut345;dbsnp25653 CF130_HUMAN;NP_659500.1 "C107Y,K109E,R119S" "0,0,0" 221443 13886 spmut349;dbsnp5708 CHD8_HUMAN;NP_001164100.1 "A1603V,A36P,D1436E,K124R,N2572Y,R1531H,T114M,V58M" "0,0,0,0,0,0,0,0" 57680 148 spmut34;dbsnp21425 ACAP2_HUMAN;NP_036419.3 "A198V,E591K,N618S,T579M" "0,0,0,0" 23527 3011 spmut355;dbsnp10695 CHM1B_HUMAN;NP_065145.2 "A181S,T102I" "0,0" 57132 12981 spmut356;dbsnp12743;dbsnp12744 CHM2A_HUMAN;NP_940818.1;NP_055268.1 V164M 0 27243 12495 spmut361;dbsnp8382;dbsnp8383 CHSP1_HUMAN;NP_055131.2;NP_001035941.1 "A53E,D83V,E28K,I128L,P9L,R56Q" "0,0,0,0,0,0" 23589 13869 spmut362;dbsnp21399 CHST2_HUMAN;NP_004258.2 "G373S,G382S,N512D,Q213H,R287L" "0,0,0,0,0" 9435 6134 spmut364;dbsnp4629 CHSTB_HUMAN;NP_060883.1 "A224P,L19P,R99Q,T95K,T95R,V289I" "0,0,0,0,0,0" 50515 9609 spmut376;dbsnp22484 CLCN3_HUMAN;NP_001820.2 "A580V,T180R,T738A" "0,0,0" 1182 2796 spmut377;dbsnp30336 CLCN4_HUMAN;NP_001821.2 "P386S,P607S,R718Q,T677M" "0,0,0,0" 1183 2796 spmut379;dbsnp21564 CLD1_HUMAN;NP_066924.1 "A124T,A14D,A14V" "0,0,0" 9076 12447 spmut380;dbsnp26774 CLD4_HUMAN;NP_001296.1 "A121G,I36M,V123M,V15I" "0,0,0,0" 1364 12769 spmut381;dbsnp24499 CLIC1_HUMAN;NP_001279.2 "D127G,Q63E" "0,0" 1192 8384 spmut386;dbsnp3204 CLP1_HUMAN;NP_006822.1 "T381A,V217A" "0,0" 10978 8043 spmut394;dbsnp22845 CNO6L_HUMAN;NP_653172.2 R180Q 0 246175 5747 spmut400;dbsnp19313 COMD1_HUMAN;NP_689729.1 "E155K,L12M,N17H,R120W" "0,0,0,0" 150684 13170 spmut406;dbsnp7007 COT2_HUMAN;NP_066285.1 V373G 0 7026 8302 spmut407;dbsnp8394 COTL1_HUMAN;NP_066972.1 D32A 0 23406 14051 spmut414;dbsnp6268 CPSF2_HUMAN;NP_059133.1 T526A 0 53981 3343 spmut417;dbsnp4753 CPSF6_HUMAN;NP_008938.2 N43K 0 11052 5830 spmut420;dbsnp12424;hgmd0613_2177 CR3L3_HUMAN;NP_115996.1 "A409T,D182N,E380K,E387K,G105R,G112S,G121E,H114P,L26P,P118A,P118T,R392Q" "0,1,0,0,0,0,0,0,0,0,0,0" 84699 7392 spmut426;dbsnp8731 CRK_HUMAN;NP_058431.2 "L109W,R17G,S304N" "0,0,0" 1398 10782 spmut429;dbsnp12511 CRUM3_HUMAN;NP_631900.1 "Q29E,R104C,R53C" "0,0,0" 92359 14367 spmut433;dbsnp27484 CSN5_HUMAN;NP_006828.2 "A109S,A9S" "0,0" 10987 10048 spmut435;dbsnp22168 CTBP1_HUMAN;NP_001319.1 V370L 0 1487 2163 spmut43;dbsnp25583 ACO13_HUMAN;NP_060943.1 "G53V,M4V,N50S,R9Q" "0,0,0,0" 55856 14085 spmut444;dbsnp10459 CXXC1_HUMAN;NP_055408.2 "A133V,H302N" "0,0" 30827 4484 spmut451;dbsnp6118 DAAM1_HUMAN;NP_055807.1 "E171K,I134V,I850V,M594V,N875H,V436I,V436L" "0,0,0,0,0,0,0" 23002 1788 spmut458;dbsnp22849 DAPP1_HUMAN;NP_055210.2 A44T 0 27071 11277 spmut459;dbsnp25517;dbsnp25518 DAXX_HUMAN;NP_001341.1;NP_001135441.1 "A486G,E553K,P672S,R526H,V375I" "0,0,0,0,0" 1616 3597 spmut460;dbsnp26888 DBNL_HUMAN;NP_001014436.1 "D91H,E300Q,G153R,H296D,I273F,P257L,P257R,P317L,T236M,V152L,V152M,V255M" "0,0,0,0,0,0,0,0,0,0,0,0" 28988 7794 spmut462;dbsnp15764 DCAF8_HUMAN;NP_056541.2 "E109Q,H96R,I470V,R559Q,R59C" "0,0,0,0,0" 50717 4794 spmut466;dbsnp19361 DCOR_HUMAN;NP_002530.1 "G253R,G268R,G84R,L339H,L339R,R183W,S309L,V163I" "0,0,0,0,0,0,0,0" 4953 7393 spmut475;dbsnp9819 DCXR_HUMAN;NP_057370.1 A218T 0 51181 12038 spmut477;dbsnp15535 DDAH1_HUMAN;NP_036269.1 "A187T,A67P,T87M" "0,0,0" 23576 11192 spmut485;dbsnp17904 DDX17_HUMAN;NP_006377.2 "G103S,H174Y,Q690P,S648T" "0,0,0,0" 10521 3776 spmut486;dbsnp19621 DDX1_HUMAN;NP_004930.1 "K702N,R400T,T26A,V203L" "0,0,0,0" 1653 3700 spmut494;dbsnp19576 DGKD_HUMAN;NP_690618.2 "G1099C,G1099S,G734S,L1092F,L260M,R1003Q,R1181W,R604W,V448I" "0,0,0,0,0,0,0,0,0" 8527 1360 spmut49;dbsnp19417 ADA23_HUMAN;NP_003803.1 "A145G,G159S,H147Y,H653R,I118M,I121L,K209R,M107V,P780A,S125A" "0,0,0,0,0,0,0,0,0,0" 8745 3024 spmut4;dbsnp17668;dbsnp17669 4ET_HUMAN;NP_062817.2;NP_001157973.1 "A286V,E33K,G954C,L941P,P538S,P855L,Q289E,R676Q,S201R" "0,0,0,0,0,0,0,0,0" 56478 2162 spmut518;dbsnp768;hgmd0613_634 DNA2_HUMAN;NP_001073918.2 "D277N,E164G,G287R,Q905K,V141A,V928I" "0,0,0,0,0,0" 1763 1855 spmut519;dbsnp29339 DNJA1_HUMAN;NP_001530.1 "Q274E,Q274K" "0,0" 3301 8024 spmut528;dbsnp12502;dbsnp12503 DOHH_HUMAN;NP_001138637.1;NP_112594.1 "M73V,V75M" "0,0" 83475 10817 spmut529;dbsnp19306 DOK1_HUMAN;NP_001372.1 "A220V,K357R,Q112R,T230N,T322M,Y174C" "0,0,0,0,0,0" 1796 6991 spmut539;dbsnp18256 DPP4_HUMAN;NP_001926.2 "C762S,E177D,F95S,I63V,Q761R,R343W,S437I,S437T,V266I" "0,0,0,0,0,0,0,0,0" 1803 3471 spmut540;dbsnp6994 DPP8_HUMAN;NP_932064.1 "A269S,A269T,H551Q,I99V,K3E,M259T,P457S,Q7E,R401H,T142A,T342A,T641N,V359I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54878 2624 spmut54;dbsnp3213 ADPPT_HUMAN;NP_056238.2 R47H 0 60496 10674 spmut550;dbsnp17915 DUS18_HUMAN;NP_689724.3 "H165Y,T163A" "0,0" 150290 13169 spmut551;dbsnp28269 DUS26_HUMAN;NP_076930.1 "D135N,R206Q" "0,0" 78986 12717 spmut554;dbsnp25182;dbsnp25183 DX39B_HUMAN;NP_004631.1;NP_542165.1 V391L 0 7919 7985 spmut563;dbsnp21199 DZIP3_HUMAN;NP_055463.1 "A631T,A714T,D6G,F767L,I1031T,M543V,P990L,Q810R,S31Y,S3C,T250M,Y271C" "0,0,0,0,0,0,0,0,0,0,0,0" 9666 1399 spmut566;dbsnp19728 E2F6_HUMAN;NP_937987.2 "D187G,N31T" "0,0" 1876 11254 spmut572;dbsnp8295;hgmd0613_850 ECI1_HUMAN;NP_001910.2 "E300G,G93S,L82V,R100H,S98L,T262M,T76M" "0,0,0,0,0,0,1" 1632 10818 spmut577;dbsnp20860 EDEM1_HUMAN;NP_055489.1 "A121D,D132N,F441S,I538V,L13P,L590V,N507S,P247T,W3C" "0,0,0,0,0,0,0,0,0" 9695 4512 spmut578;dbsnp28977 EDF1_HUMAN;NP_003783.1 "L75M,R63W" "0,0" 8721 13953 spmut580;dbsnp3197 EED_HUMAN;NP_003788.2 "I178V,T50P" "0,0" 8726 7751 spmut581;dbsnp24884 EF1A1_HUMAN;NP_001393.1 "A298T,R382G,T341P,V412A" "0,0,0,0" 1915 7355 spmut585;dbsnp11879;dbsnp11880 EGLN2_HUMAN;NP_542770.2;NP_444274.1 "A169V,A32V,E26D,P114L,R220Q,S58L,T405M,V183M" "0,0,0,0,0,0,0,0" 112398 8441 spmut589;dbsnp6860 EID1_HUMAN;NP_055150.1 "E164K,F156I,F156L" "0,0,0" 23741 13231 spmut595;dbsnp1804 EMSY_HUMAN;NP_064578.2 "C1207R,E751G,K545Q,P439S,P958L,S1212L,S162N" "0,0,0,0,0,0,0" 56946 1123 spmut598;dbsnp30128 ENOX2_HUMAN;NP_872114.1 "A317G,E497G,L509M,M30V,P242L,R302H,R422C,V538A" "0,0,0,0,0,0,0,0" 10495 4661 spmut5;dbsnp2290 4F2_HUMAN;NP_002385.3 "A543V,D276N,G262C,G27D,G517D,I264V,K592Q,P516S,P584S,R313W,R439M,R451Q,R562H,S317L,V12F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6520 4790 spmut601;dbsnp14576 ENSA_HUMAN;NP_004427.1 "K4R,T21M" "0,0" 2029 14139 spmut613;dbsnp11875 EPN1_HUMAN;NP_001123544.1 "A312D,G437A" "0,0" 29924 4463 spmut614;dbsnp23203 EPN4_HUMAN;NP_055481.1 "E391K,G589E,N568K,R171S" "0,0,0,0" 9685 4669 spmut621;dbsnp30359 ERC6L_HUMAN;NP_060139.2 "A812T,E1128K,E631Q,E72K,E846Q,L70V,N189S,N521H,N840S,R1206H,R398C,R398H,R891H,R90Q,S759N,T235N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54821 1280 spmut630;dbsnp6263 ERO1A_HUMAN;NP_055399.1 "E323K,F9C,G23R" "0,0,0" 30001 7244 spmut632;dbsnp2791 ERR1_HUMAN;NP_004442.3 "A378V,G368D,R375Q,R376L,T31I" "0,0,0,0,0" 2101 6498 spmut63;dbsnp25904 AGR2_HUMAN;NP_006399.1 "I4T,N147K" "0,0" 10551 13458 spmut645;dbsnp4393 ETV6_HUMAN;NP_001978.1 "A28T,L201P,R127Q,R291K,S26T,V166M,W72G" "0,0,0,0,0,0,0" 2120 7558 spmut650;dbsnp15054 EYA3_HUMAN;NP_001981.2 "G340S,N183S,Q195H,Q27H,S517T" "0,0,0,0,0" 2140 4703 spmut651;dbsnp10202 EZH1_HUMAN;NP_001982.2 P78T 0 2145 3605 spmut656;dbsnp1092;dbsnp1094;dbsnp1095;dbsnp1096 F213A_HUMAN;NP_115709.3;NP_001230709.1;NP_001230708.1;NP_001230707.1 "F179L,R164Q" "0,0" 84293 12346 spmut657;dbsnp15736 F262_HUMAN;NP_006203.2 "N12K,R202Q,R496C,V54M" "0,0,0,0" 5208 6310 spmut673;dbsnp29000;dbsnp29001 FBCD1_HUMAN;NP_001138578.1;NP_116232.3 "A174T,A322T,A427V,A429T,D304E,D433N,E436G,M159V,P26L,R303G,R346H,S114L" "0,0,0,0,0,0,0,0,0,0,0,0" 84929 7394 spmut676;dbsnp7807 FBX31_HUMAN;NP_079011.3 "N161S,N336S,R394Q,V204A" "0,0,0,0" 79791 6002 spmut682;dbsnp22004 FBXL5_HUMAN;NP_036293.1 "E595V,K182N,N655K,R386Q,R72H,Y444N" "0,0,0,0,0,0" 26234 4159 spmut689;dbsnp7164 FEM1B_HUMAN;NP_056137.1 "A242T,R210H" "0,0" 10116 4827 spmut695;dbsnp22482 FGFP1_HUMAN;NP_005121.1 "D89V,E196K,F156S,K63T,Q50R,S182Y,T232S,V134L" "0,0,0,0,0,0,0,0" 9982 12258 spmut701;dbsnp21509;dbsnp21510 FHIT_HUMAN;NP_002003.1;NP_001159715.1 "P33T,Q63R" "0,0" 2272 13976 spmut702;dbsnp4593 FICD_HUMAN;NP_009007.2 "G307S,K103R,K175T,L3F,T249N,V301M,Y400H" "0,0,0,0,0,0,0" 11153 7444 spmut704;dbsnp26615 FIS1_HUMAN;NP_057152.2 R112Q 0 51024 13887 spmut718;dbsnp9481 FOXK2_HUMAN;NP_004505.2 "A387T,A479V,A491V,A505P,A533T,A537T,A588G,E523K,E625A,G540S,I559T,I572L,I572V,K633N,P627L,P627R,R52C,R544Q,T493M,V582M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3607 4483 spmut721;dbsnp25190;dbsnp25191 FOXO3_HUMAN;NP_001446.1;NP_963853.1 "A341T,A521S,P415L,R323C,R99W,S353I" "0,0,0,0,0,0" 2309 4344 spmut722;dbsnp30787 FOXO4_HUMAN;NP_005929.2 "C415Y,S241N" "0,0" 4303 6566 spmut726;dbsnp30594 FRPD4_HUMAN;NP_055543.2 "A130T,A642V,C1023R,I850N,K113T,K195E,N867D,P1238L,T1300N,T579M,V1235M,V467I" "0,0,0,0,0,0,0,0,0,0,0,0" 9758 1124 spmut727;dbsnp26576 FSCN1_HUMAN;NP_003079.1 "A440V,E215Q,G200R,I93T,K220N,R149P,R344C,S373L,T311M,T316M,T318M" "0,0,0,0,0,0,0,0,0,0,0" 6624 6792 spmut728;dbsnp12746 FSTL3_HUMAN;NP_005851.1 "I67V,P247A,V216I" "0,0,0" 10272 11627 spmut729;dbsnp23842 FTMT_HUMAN;NP_803431.1 "A223S,D222N,G185D,H188L,H188P,P45H,Q135H,V216L" "0,0,0,0,0,0,0,0" 94033 12082 spmut731;dbsnp30238 FUND1_HUMAN;NP_776155.1 N5I 0 139341 13200 spmut734;dbsnp23884;dbsnp23885 G3BP1_HUMAN;NP_005745.1;NP_938405.1 "F138L,M450I,P454S" "0,0,0" 10146 6966 spmut753;dbsnp24217 GBLP_HUMAN;NP_006089.1 D213G 0 10399 10478 spmut754;dbsnp24208 GBRB2_HUMAN;NP_068711.1 "D392N,D392Y" "0,0" 2561 6445 spmut764;dbsnp27227 GGCT_HUMAN;NP_076956.1 P134A 0 79017 13212 spmut768;dbsnp11069 GILT_HUMAN;NP_006323.2 "I146M,M180V,P60L,R76Q,T219S" "0,0,0,0,0" 10437 11916 spmut777;dbsnp4868 GLTP_HUMAN;NP_057517.1 "R181H,R68Q" "0,0" 51228 12770 spmut781;dbsnp26634 GNAI1_HUMAN;NP_002060.4 "D261N,I127T" "0,0" 2770 9547 spmut795;dbsnp1135 GPR26_HUMAN;NP_703143.1 V335M 0 2849 9342 spmut799;dbsnp25193 GPSM3_HUMAN;NP_071390.1 "A94P,H47D,R53C,T157P" "0,0,0,0" 63940 13721 spmut805;dbsnp9806;dbsnp9807;dbsnp9808 GRB7_HUMAN;NP_001229372.1;NP_001025173.1;NP_005301.2 "G121D,G240V,G51S,G85R,P362L,R316W,R352H,T287M,T419K,T49I,V127M,V146L" "0,0,0,0,0,0,0,0,0,0,0,0" 2886 5203 spmut810;dbsnp7040 GRP1_HUMAN;NP_005730.2 L164I 0 10125 3235 spmut828;dbsnp25749 H2A1A_HUMAN;NP_734466.1 "A104S,A11T,I88V" "0,0,0" 221613 9171 spmut829;dbsnp25703 H2A1B_HUMAN;NP_003504.2 S2F 0 8335 9171 spmut830;dbsnp24912 H2A1C_HUMAN;NP_003503.1 "P110S,V44F" "0,0" 8334 9171 spmut831;dbsnp25737 H2A1D_HUMAN;NP_066409.1 "L52R,L94V,V50L" "0,0,0" 3013 9171 spmut832;dbsnp25413 H2A1H_HUMAN;NP_542163.1 "A67T,H125Y,M1I,V31M" "0,0,0,0" 85235 9171 spmut833;dbsnp25822 H2A1J_HUMAN;NP_066544.1 T17S 0 8331 9171 spmut834;dbsnp25796 H2A1_HUMAN;NP_003500.1 S20F 0 8329 9171 spmut838;dbsnp13178 H2A3_HUMAN;NP_254280.1 "A15V,P49L,P49R" "0,0,0" 92815 9171 spmut847;dbsnp12683 HCST_HUMAN;NP_055081.1 "C42R,S61W" "0,0" 10870 14735 spmut849;dbsnp14422 HDAC1_HUMAN;NP_004955.2 "D395N,H33N" "0,0" 3065 6871 spmut854;dbsnp30751;hgmd0613_1891 HDAC8_HUMAN;NP_060956.1 "A158D,P7R" "0,0" 55869 9049 spmut855;dbsnp15110 HECD3_HUMAN;NP_078878.3 "I223F,V204I" "0,0" 79654 2822 spmut861;dbsnp6647;hgmd0613_1252 HERC2_HUMAN;NP_004658.3 "A2757V,A3059T,A353T,A3571V,A4253T,A817V,C4079Y,D1826A,D318Y,D4808A,D64G,G171S,G2574A,H4640R,I1235M,I1904V,I2679V,I3457V,I4799V,K1849R,K2241R,K2480N,K73Q,L1337F,L1898M,L338V,L98P,M1792V,M1810T,M1832T,M3442I,M797V,N3365K,N922K,P2037L,P2046L,P2445R,P3332S,P339S,P3425L,R1542H,R183Q,R2125Q,R2129C,R2646Q,R3681C,R3794K,S1048Y,S1680R,S2471P,S2491G,S2781T,S3475F,S3487L,S3769T,S4233T,T1566M,T1814A,T2050M,T2353S,T2546M,T3331M,T4672M,V2532M,V2577I,V3327M,V3657I,V4538M,V46L,V878M,Y1066H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8924 39 spmut864;dbsnp10114 HEXI1_HUMAN;NP_006451.1 "A22V,P80Q" "0,0" 10614 9459 spmut865;dbsnp9894 HEXI2_HUMAN;NP_653209.1 "K191N,N68S,S109N,S96P" "0,0,0,0" 124790 11176 spmut876;dbsnp29424 HINT2_HUMAN;NP_115982.1 "E106D,P83L,P83R" "0,0,0" 84681 13665 spmut883;dbsnp17620 HIRA_HUMAN;NP_003316.3 "A389T,A581T,C763S,P677L,P849S,R196H,R373H,V716M" "0,0,0,0,0,0,0,0" 7290 2040 spmut886;dbsnp25246 HLAG_HUMAN;NP_002118.1 "A114D,A114G,A34T,E85D,G124D,H287Y,L134I,L290Q,R169H,R169P,R243Q,T282M,T55M,T55S,Y183H,Y51H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3135 7735 spmut888;dbsnp12574 HM20B_HUMAN;NP_006330.2 F282S 0 10362 10479 spmut889;dbsnp24073;dbsnp24074 HMCS1_HUMAN;NP_001091742.1;NP_002121.4 "A392G,H492L,L503P,P494S" "0,0,0,0" 3157 6290 spmut891;dbsnp25780 HMGC2_HUMAN;NP_061909.2 "D249G,M296I" "0,0" 54511 9201 spmut897;dbsnp22593 HNRDL_HUMAN;NP_112740.1 T119I 0 9987 8156 spmut900;dbsnp16859 HOIL1_HUMAN;NP_112506.2 "G184R,G485S,R364C,R446H,W58S" "0,0,0,0,0" 10616 6470 spmut901;dbsnp22373 HPGDS_HUMAN;NP_055300.1 "D110N,F151S,I91V,M128T,P125R,V187I" "0,0,0,0,0,0" 27306 12982 spmut905;dbsnp9763 HS3SA_HUMAN;NP_006033.1 "A85S,D201N,I229M,S284N" "0,0,0,0" 9955 7473 spmut910;dbsnp28253 HSF1_HUMAN;NP_005517.1 "A219V,A254V,P420S,R360Q" "0,0,0,0" 3297 6155 spmut911;dbsnp25805;hgmd0613_1215 HSF2_HUMAN;NP_004497.1 "R122C,V287I" "0,0" 3298 6046 spmut913;dbsnp12406 HSH2D_HUMAN;NP_116244.1 "C166Y,K292R,R117C,S101A,V297G" "0,0,0,0,0" 84941 9610 spmut918;dbsnp22633 HTRA3_HUMAN;NP_444272.1 "I259V,T321M,V170M,V269M" "0,0,0,0" 94031 6998 spmut922;dbsnp4576;dbsnp4577 HVCN1_HUMAN;NP_115745.2;NP_001035196.1 "A37T,A69P,C249G,L231F,M91I,M91T,V176I" "0,0,0,0,0,0,0" 84329 11418 spmut923;dbsnp26833 HXA9_HUMAN;NP_689952.1 "G142S,K223T,R258W,S171R,T232S" "0,0,0,0,0" 3205 11438 spmut930;dbsnp6197 I2BPL_HUMAN;NP_078772.1 "G329A,P204T,S184G,S735C,T316I" "0,0,0,0,0" 64207 3245 spmut938;dbsnp9841 IF2B1_HUMAN;NP_006537.3 "H265Q,N128S,V390I" "0,0,0" 10642 5437 spmut941;dbsnp19810 IF4E2_HUMAN;NP_004837.1 R241W 0 9470 12013 spmut944;dbsnp9986;dbsnp9988;dbsnp9989 IF5A1_HUMAN;NP_001137234.1;NP_001137233.1;NP_001961.1 "N83H,N83Y" "0,0" 1984 13298 spmut946;dbsnp21178 IFT57_HUMAN;NP_060480.1 "G12A,G274R,I159V,K384R,M1I,N411S,Q333R" "0,0,0,0,0,0,0" 55081 7967 spmut968;dbsnp9908;dbsnp9909 INCA1_HUMAN;NP_001161458.1;NP_001161459.1 "E153D,K134M,R112W,R126C" "0,0,0,0" 388324 12202 spmut976;dbsnp19800 INSI2_HUMAN;NP_057217.2 I218F 0 51141 11323 spmut978;dbsnp15640 INT11_HUMAN;NP_060341.2 "A561T,R196H,T445M,T482N,V380I,V493M" "0,0,0,0,0,0" 54973 5070 spmut986;dbsnp22724 IRF2_HUMAN;NP_002190.2 "G270V,I175F,I224V,T20M,T20S" "0,0,0,0,0" 3660 9693 spmut992;dbsnp22797 ISK2_HUMAN;NP_066937.1 R80Q 0 6691 14807 spmut998;dbsnp924;dbsnp925 ITB1_HUMAN;NP_596867.1;NP_002202.2 "M512V,R240C,V647I" "0,0,0" 3688 3207 sw1 S12A8_HUMAN "I281V,K541R,P266L,R181C,R664Q" "0,0,0,0,0" 84561 3926 sw10000;dbsnp13971 TINAL_HUMAN;NP_071447.1 "A69S,E219K,F451L,N198S,R46Q,S387R,S450I" "0,0,0,0,0,0,0" 64129 7266 sw10001;dbsnp15413 GPR88_HUMAN;NP_071332.2 "G171D,G171V,Q318H,V190I" "0,0,0,0" 54112 8914 sw10002;sws1118;dbsnp12188 S6A16_HUMAN;NP_054756.2 "L278V,L313R,N201S,R406C,R459H,S108R,S702T,T599K" "0,0,0,0,0,0,0,0" 28968 3736 sw10003;dbsnp7590 ROGDI_HUMAN;NP_078865.1 "D131E,E59K,F287L,L209V,M231V,R238H,S174R" "0,0,0,0,0,0,0" 79641 11159 sw10004;sws1119;dbsnp2563 PDGFD_HUMAN;NP_079484.1 "A267T,D218Y,D361N,H252R,I190V,I214N,V193L,V324M" "0,0,0,0,0,0,0,0" 80310 9197 sw10005;dbsnp16498 NRSN2_HUMAN;NP_079234.1 "E160Q,G113S,G38S,L41V,R175H,S65C" "0,0,0,0,0,0" 80023 12876 sw10006;dbsnp11594 VN1R1_HUMAN;NP_065684.1 "A184P,A269D,I103M,I139T,M158T,Q251R,R215K,S241F,S310C" "0,0,0,0,0,0,0,0,0" 57191 9588 sw10007;dbsnp27457;dbsnp27458;dbsnp27459 COMD5_HUMAN;NP_001074472.1;NP_054785.2;NP_001074473.1 "A6T,A84S,G72A,Q179R,Q69H,R38Q,S17T" "0,0,0,0,0,0,0" 28991 12457 sw10008;dbsnp23169 NMUR2_HUMAN;NP_064552.3 "A395T,C369S,D246H,E376K,F315L,K155E,L270P,M388V,M76R,P383L,Q72H,S28I,S298R,S298T,S331A,V206D,V274I,V314G,V48L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56923 8278 sw10009;dbsnp515 NPFF1_HUMAN;NP_071429.1 "A193S,G124D,I145L,R196L,R377W,S385F" "0,0,0,0,0,0" 64106 7948 sw1000;sws111 ULK1_HUMAN "P478L,P714L,S298L,S665L,T503M,T816A" "0,0,0,0,0,0" 8408 1896 sw10010;spmut1895;dbsnp24274 SENP6_HUMAN;NP_056386.2 "A820V,D475Y,E637K,G309A,H38R,I256V,N892Y,P365S,R717P,T121M,Y1106C" "0,0,0,0,0,0,0,0,0,0,0" 26054 1686 sw10011;dbsnp28688 REXO4_HUMAN;NP_065118.2 "A212V,A4V,G239S,P13R,R141K,R297Q,S111L,S294R,S355N,T283A,V168I,V395I" "0,0,0,0,0,0,0,0,0,0,0,0" 57109 8110 sw10012;dbsnp24967 ELOV4_HUMAN;NP_073563.1 "E272Q,I267T,M299V,N117K" "0,0,0,0" 6785 10562 sw10013;dbsnp6077 DDX24_HUMAN;NP_065147.1 "A127V,A317D,E284K,E316K,E357K,E372K,G162E,I313N,I313T,K608R,L610V,L714V,N493S,P499R,P816L,Q115E,R386C,R602H,R635H,R780Q,S14R,V401I,V664G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57062 2839 sw10014;dbsnp8883 DNAI2_HUMAN;NP_075462.3 "A317T,A558T,D197V,D554N,E511D,F437L,G470S,I200L,L488F,P572L,R66L,T285M,T301A,T431A,V252M,V42M,V495I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64446 5080 sw10016;dbsnp7678 CHST5_HUMAN;NP_078809.2 "A108P,A150T,A308V,A311T,E322Q,M22I,P410R,R6W,T318M,V229M" "0,0,0,0,0,0,0,0,0,0" 23563 8359 sw10018;dbsnp1401 CC90B_HUMAN;NP_068597.2 "A6D,F10L,G16E,I213T,I217T,K186R,Q5R,R47Q,V177I,W253S" "0,0,0,0,0,0,0,0,0,0" 60492 11822 sw10019;dbsnp17989 NIF3L_HUMAN;NP_001129511.1 "D257N,N160K,R227Q,T324I" "0,0,0,0" 60491 9045 sw1001;dbsnp2598;dbsnp2599 LAT3_HUMAN;NP_003618.1;NP_001185739.1 "A387T,E338D,G238V,H443Y,H452Y,L40M,L94M,N441S,Q495H,R282L,S272L,T119I,T4R,W13C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8501 5565 sw10021;dbsnp25342 CF062_HUMAN;NP_112201.1 "I196V,R140S,W116C" "0,0,0" 81688 12341 sw10023;sws1121;dbsnp11306;dbsnp11307;dbsnp11308 PEG3_HUMAN;NP_001139658.1;NP_001139656.1;NP_006201.1 "A1020T,A1369T,A1422G,A1456V,A1580T,A235T,D1104N,D143N,D1451N,D1480N,D212G,D336H,D983G,E1072D,E1502D,E210K,E624G,F160S,F617L,G1434E,G605R,G726R,H1079Q,H241Q,H596R,M620I,N242S,N947S,P1425A,Q988H,R1030Q,R1576H,R1576L,R163Q,R163W,R221P,R287G,R287Q,R324C,R50Q,R600H,R691W,R889H,S1005F,S1075G,S698A,S797I,T1147I,T203K,T270M,V428M,V533L,V793A,V839L,Y969C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5178 744 sw10025;spmut436;dbsnp18415 CTDS1_HUMAN;NP_067021.1 "A56T,A56V,H57D,R246C" "0,0,0,0" 58190 11338 sw10026;dbsnp592 ANKR2_HUMAN;NP_065082.2 "A62T,G224R,G80W,P146L,P250L,R292C,R48W" "0,0,0,0,0,0,0" 26287 9422 sw10027;dbsnp18134 SC5A7_HUMAN;NP_068587.1 "I89V,L16F,V413I,V436M,Y238C" "0,0,0,0,0" 60482 5409 sw10028;dbsnp21616 IF5A2_HUMAN;NP_065123.1 "E42D,I61T" "0,0" 56648 13298 sw10029;dbsnp27638 PRD14_HUMAN;NP_078780.1 "H106D,K244E,N186S,S218R" "0,0,0,0" 63978 5534 sw1002;dbsnp11235 GPR32_HUMAN;NP_001497.1 "A338T,F327L,P354S,R180W,T189M" "0,0,0,0,0" 2854 9511 sw1003 SC22B_HUMAN "C130R,D71Y,H190R,R108Q,T82K,W214C" "0,0,0,0,0,0" 9554 12630 sw10031 SCND2_HUMAN "A185T,P110T" "0,0" - 10733 sw10032;dbsnp1868;dbsnp1870 MS4A7_HUMAN;NP_996822.1;NP_067024.1 "A92G,A92V,E34K,G99E,I171T,L175H,L189I,L93V,P112H,S157F,T46P" "0,0,0,0,0,0,0,0,0,0,0" 58475 12126 sw10034;dbsnp11395 ZN350_HUMAN;NP_067645.3 "A180P,A382T,A460V,A480T,E406K,G148A,H173N,I69T,K83E,L66P,M37I,Q393H,R132C,R276Q,R441K,R501S,R90C,S472P,V524I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 59348 4947 sw10035;dbsnp3671 IL22_HUMAN;NP_065386.1 "G30R,K154E,M172V,S158G" "0,0,0,0" 50616 13375 sw10037;dbsnp25034 PBOV1_HUMAN;NP_067648.1 "I69T,I73T,L39I,P33Q,R54Q" "0,0,0,0,0" 59351 14166 sw10038;sws1122;dbsnp18633 MFF_HUMAN;NP_064579.3 "D8Y,E312K,E316Q,M324T,P57L,R154Q,R341H,R341L,S193F,S7C,S7I,V161I" "0,0,0,0,0,0,0,0,0,0,0,0" 56947 9858 sw10039;dbsnp18789 HXD1_HUMAN;NP_078777.1 "A296T,G218R" "0,0" 3231 10199 sw10040;dbsnp1861 ACH10_HUMAN;NP_065135.2 "A338D,E266K,E355A,G347S,L33M,L348R,R185Q,R346W,R351W,R407C,R414H,R421C,T405N,T77N,V248L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57053 7026 sw10041;dbsnp20444 MKRN2_HUMAN;NP_054879.3 "E400D,H212Q,R388Q" "0,0,0" 23609 8259 sw10042;dbsnp561 LHPP_HUMAN;NP_071409.3 "D215N,E185K,G105R,Q140H,Q94R,R47Q,R47W,R70K,R97Q,V217M" "0,0,0,0,0,0,0,0,0,0" 64077 11487 sw10043;dbsnp9571 NACA2_HUMAN;NP_954984.1 "E164K,G151R,L199Q,M1L,P10R,P115S,T174R,T6A,V64I,V9F" "0,0,0,0,0,0,0,0,0,0" 342538 766 sw10045;dbsnp23020 S22A4_HUMAN;NP_003050.2 "G462E,I306T,L148V,L233F,L503F,M205I,M431V,N210K,Q180H,R227H,T464A,V159M" "0,0,0,0,0,0,0,0,0,0,0,0" 6583 5732 sw10046;dbsnp15017;dbsnp15018;dbsnp15019 FA54B_HUMAN;NP_001093096.1;NP_062457.3;NP_001093095.1 P58S 0 56181 11047 sw10048;dbsnp2456 T126A_HUMAN;NP_115649.1 "R105Q,R29S,R64H,S188T,S52G" "0,0,0,0,0" 84233 13080 sw10049;spmut1161;dbsnp27832 MAF1_HUMAN;NP_115648.2 "G236R,V229E" "0,0" 84232 11786 sw1005 HYPM_HUMAN V68I 0 25763 14436 sw10050;dbsnp9209;dbsnp9210 LRC48_HUMAN;NP_112584.3;NP_001123562.1 "A364V,D210N,G455R,R159Q,R191W,T449M" "0,0,0,0,0,0" 83450 6240 sw10051;dbsnp2282 CLPB_HUMAN;NP_110440.1 "A117S,A360V,A522G,A522S,E310D,G221S,G71A,I683T,M147I,N448S,R295T,R327W,R408G,R628C,R629H,R650H,R650L,R695W,S223N,T706A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81570 4013 sw10052;dbsnp9561;dbsnp9562;dbsnp9563;dbsnp9564;dbsnp9565 MIS12_HUMAN;NP_076944.1;NP_001245146.1;NP_001245148.1;NP_001245147.1;NP_001245149.1 M21V 0 79003 12856 sw10053;dbsnp20216 LSG1_HUMAN;NP_060855.2 "A131V,A226T,A522V,A633V,D202E,E368D,G580D,H27R,I246T,K267E,L294F,L92P,P117R,P352S,R141C,R222Q,R347W,R47G,R47H,S295N,S413C,T299A,T402I,Y394C,Y428H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55341 4502 sw10054;dbsnp9690 ZMY15_HUMAN;NP_001129518.1 "D99E,P155L,R300Q,R343W,R401H,R431C,R672H" "0,0,0,0,0,0,0" 84225 3683 sw10055;sws1124;spmut1401;dbsnp14984 NUAK2_HUMAN;NP_112214.1 "A392V,A474T,A516V,D275Y,E143K,G506S,G522S,K124Q,L472S,N198S,R134W,R341L,R453Q,R498C,R618Q,R84Q,R98Q,S603N,T309S,T578M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81788 4817 sw10056;dbsnp13496 NBPF3_HUMAN;NP_115640.1 "D190H,D224E,D444E,D491N,E141D,E146A,E147G,E221Q,E314G,E398D,E411D,E430G,E524V,E86K,F429C,F429S,G281R,G473D,H633Q,K463E,L459V,M462T,N180S,P192L,P330A,P564A,P632L,Q212E,R110W,R177C,R198Q,R331M,R81C,S447A,S512A,Y114C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84224 98 sw10057;dbsnp20814;dbsnp20815 IQCG_HUMAN;NP_001127907.1;NP_115639.1 "A112D,D177H,D42A,D42G,E313A,G36E,I213T,M418V,P50L,R138Q,R411K,T72A,V32I,V94M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84223 7709 sw10058 NAT10_HUMAN Y461H 0 55226 2002 sw10059;dbsnp26274;dbsnp26275;dbsnp26276 RNF32_HUMAN;NP_112198.1;NP_001171926.1;NP_001171925.1 "G305S,H291Q,I257T,R259Q,R288Q,R307C" "0,0,0,0,0,0" 140545 9363 sw10060;dbsnp16905 CU056_HUMAN;NP_001136326.1 "A189S,A193T,E231K,N294I,P113L,R23C,S298N,V270L" "0,0,0,0,0,0,0,0" 84221 9907 sw10062;dbsnp1909;dbsnp1911;dbsnp1912 KLC2_HUMAN;NP_001128247.1;NP_073733.1;NP_001128248.1 "E171K,K490N,P517S,Q135E" "0,0,0,0" 64837 4727 sw10063;dbsnp7354 CRLD2_HUMAN;NP_113664.1 "A434G,C290Y,E479K,G22D,H262D,M270V,M284I,M294L,N147H,N431S,P141L,R364K,S105G,S144R,T322S,V263D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83716 6671 sw10064;dbsnp13208 ZMY12_HUMAN;NP_115633.3 "A282P,F316L,I223V,R192C,R286C,R61C,S355I,T349P" "0,0,0,0,0,0,0,0" 84217 9299 sw10065;dbsnp3635 TM117_HUMAN;NP_115632.1 "I296T,N452S,R423C,R90H" "0,0,0,0" 84216 6410 sw10066;spmut961;dbsnp19204 ILKAP_HUMAN;NP_110395.1 "I66M,K349N" "0,0" 80895 8758 sw10067;sws1125;dbsnp11990 ZN541_HUMAN;NP_001094889.1 "C142R,E1312V,E959K,G146R,G38R,G928R,K424R,K791E,L940F,M997V,N429S,P486S,P834H,T686S,T729I,T795S,T849M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84215 1040 sw10068;dbsnp16521 XRN2_HUMAN;NP_036387.2 "A569V,A80S,C547S,D275V,I635V,K522N,M391I,P457L,Q733R,R175H,R305P,R305Q,R743M,R925C,V336I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22803 2344 sw10069;dbsnp2179 TOLIP_HUMAN;NP_061882.2 "A222S,I264V,I57V,N97S,Q256R,R130C,V112M" "0,0,0,0,0,0,0" 54472 11399 sw1006;spmut2092;dbsnp27730 TACC1_HUMAN;NP_006274.2 "A478S,E255G,E273K,E308D,E710A,G413D,G595E,I243T,L377V,L598F,P187L,P64H,Q285R,S382F,T328I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6867 3172 sw10070;spmut2306;dbsnp3901;dbsnp3902 UBP44_HUMAN;NP_115523.2;NP_001035862.1 "D84G,E316Q,E36K,G363S,M123L,M366I,N584D,P602S,Q168P,R348G,T236M,T91A" "0,0,0,0,0,0,0,0,0,0,0,0" 84101 3952 sw10071 BRD8_HUMAN Q1198R 0 10902 1323 sw10072 RNF38_HUMAN A206T 0 152006 6395 sw10073;spmut1934;dbsnp27823 SHRPN_HUMAN;NP_112236.3 "P147S,P294S,P311R,R274W,R325H,R365H,S17F,S282T" "0,0,0,0,0,0,0,0" 81858 8854 sw10075;dbsnp9414 NSRP1_HUMAN;NP_115517.1 "A256V,D342N,D464N,E360K,H355L,K149T,K84E,K86T,K92T,P365Q,Q328E,R290Q,R440G,R484G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84081 5722 sw10076 INT2_HUMAN N768H 0 57508 1407 sw10077;dbsnp6953 ENC2_HUMAN;NP_071925.2 "A589V,E205K,I110V,M257L,N92S,R61C,S252C,S468L,S76G,T15M,T178M,V250I,V282M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64410 5279 sw10078;dbsnp7788 CC113_HUMAN;NP_054876.2 "A131V,A167S,D4E,I347T,K100N,S141N,S262R,S6T,V305M" "0,0,0,0,0,0,0,0,0" 29070 9046 sw10079;dbsnp22044 TKTL2_HUMAN;NP_115512.3 "A209T,F351S,G189V,G91R,H220Y,H460R,I300V,Q590H,R149L,R334H,R334L,R405L,R442Q,V185A,V266M,V620I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84076 4793 sw1007;dbsnp19991 DPOLQ_HUMAN;NP_955452.3 "A2134S,A2304V,A2464T,A2547V,A581V,C2411S,D1257G,D1562Y,D1784Y,D250A,E2465K,E917K,E964A,G1256E,G1751W,H1201R,H1545Q,H225Y,H913Y,I1353V,I879T,K109N,K91N,L1720F,L197R,L232I,L2538F,L2538V,L623H,L728F,M1507T,N1130Y,P1056L,P1381T,P1737L,Q1565H,Q2513R,R1229G,R1953Q,R200C,R438W,R516C,R66I,R696H,S1879L,S305A,S962G,T1299A,T721N,T982R,V2183I,V2554I,V310G,V380L,W661G,Y2118C,Y2420C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10721 216 sw10080;dbsnp8995 QRIC2_HUMAN;NP_115510.1 "A1266S,A156T,A69V,A913V,A928T,E1036Q,E1093G,G143R,G604V,G639C,G741D,H1222Q,H603R,H683R,H906Y,H974R,I630T,I630V,K1304E,L202S,M1365I,P101Q,P1077R,P115L,P1435S,P1481S,P1571L,P221L,Q597P,Q692E,Q732H,R1133G,R1152S,R1262H,R1289W,R1392Q,R1403C,R1494H,R1496H,R1540W,R1576W,R175H,R264L,R264Q,R317H,R436W,R572C,R578H,R643H,R653C,R663H,R723C,R723H,R997Q,S624G,V1243I,V1352L,V354A,V651D,V681D,W456R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84074 677 sw10081;dbsnp26668 PAR12_HUMAN;NP_073587.1 "A620V,D657V,G553R,L317R,P637Q,P637R,Q269H,S507L,T120I,V293I,V463M,W150L,Y137C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64761 4065 sw10082;spmut1941;dbsnp2672 SIK2_HUMAN;NP_056006.1 "A635V,D896H,D896N,D896Y,I315T,M377I,P402S,P825L,P827T,P828L,P829S,P830L,P830Q,Q843E,R38W,R809Q,T458I,V130A,V396M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23235 2457 sw10083;dbsnp11963 RSH6A_HUMAN;NP_110412.1 "A50G,A50V,A515G,C213Y,D395G,E393K,E394Q,E396Q,E417D,E533A,E702K,F252S,G706S,M305I,P474L,P48S,P524R,V316I,V531M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81492 3901 sw10084;dbsnp3479;dbsnp3480;dbsnp3481 PUS7L_HUMAN;NP_001092084.1;NP_112582.3;NP_001092085.1 "A504T,D682N,E356G,G514S,G83V,I343V,I50V,I92M,K264E,M348V,R290K,R308L,R527C,S29I,S330L,T188I,V197L,V21I,V278G,V471A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83448 4066 sw10085;spmut2377;dbsnp27998 WWP1_HUMAN;NP_008944.1 "G852V,K225E,L909F,N745S,P217L" "0,0,0,0,0" 11059 2483 sw10086;dbsnp26443 ZCPW1_HUMAN;NP_060454.3 "D227N,E105G,E365K,L351I,R369H,T153A" "0,0,0,0,0,0" 55063 4607 sw10087;dbsnp10889 ZN700_HUMAN;NP_653167.1 "C100F,E269G,E51K,E701Q,E729K,E96Q,H460Y,K711R,L321V,R210G,R389P,R406Q,R608Q,S235N,S68N,S68R,T318N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90592 3684 sw10088;spmut1687;dbsnp19792 RAB6C_HUMAN;NP_115520.2 "A159T,D227N,S214Y" "0,0,0" 84084 11823 sw10089;spmut10;dbsnp26948 5NT3_HUMAN;NP_001002010.1 "D137V,D322G,E306D,F36L,G280R,K114Q,L181P,N229S,N264S,R258T" "1,0,0,0,1,0,1,1,0,0" 51251 9990 sw1008;dbsnp17643 CDC45_HUMAN;NP_003495.1 "D122G,D140N,E155G,F361L,G453S,I509V,M356R,R277H,R310W,R7G,S362N,T240I,V14A,V376M,V81I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8318 5165 sw10090;dbsnp5846 AP5M1_HUMAN;NP_060699.3 "A479T,E379D,F375L,G226R,I78V,M247K,P118T,R26Q,V6M" "0,0,0,0,0,0,0,0,0" 55745 6844 sw10091;dbsnp10484 HDHD2_HUMAN;NP_115500.1 "A112V,R85Q,R85W,T192A" "0,0,0,0" 84064 11722 sw10092;dbsnp14162 GBP3_HUMAN;NP_060754.2 "A313T,A325T,C309S,C491R,E198G,E255K,E350K,E457D,E561Q,F217L,I320M,I487T,K372N,L126F,L21M,L377P,L581P,M367I,N163D,N163I,P10L,Q555E,R221Q,R225W,R290C,R48C,T149A,T347S,T92S,V469M,V558A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2635 4696 sw10093;dbsnp25341 GATA_HUMAN;NP_060762.3 "A11V,A481V,E387D,E432K,N263S,P288L,R350K,R480C,T364A,V229G,V355L" "0,0,0,0,0,0,0,0,0,0,0" 55278 6167 sw10094;dbsnp18508 RAB17_HUMAN;NP_071894.1 "A94V,C210W,D115E,K164R,L191P,R192L,S184G,V19A,V30M,V83I" "0,0,0,0,0,0,0,0,0,0" 64284 12699 sw10096;dbsnp24543 RM18_HUMAN;NP_054880.2 "P148A,P148S,P175L,R6P,R6Q,V122L,V171F" "0,0,0,0,0,0,0" 29074 13359 sw10098;dbsnp11403 CCDC8_HUMAN;NP_114429.2 "A349P,A393V,D310H,D326G,D341A,D381N,E292D,E305K,E305Q,G288R,G296R,H383D,H383Y,K507N,N318K,Q200L,R275Q,S261Y,S273F,S487L,V412E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83987 6016 sw10099;dbsnp4281 THAP2_HUMAN;NP_113623.1 "A59V,E201G,I86V,L121P,R69Q,T170M" "0,0,0,0,0,0" 83591 12361 sw1009;dbsnp26486 FBX24_HUMAN;NP_277041.1 "A61V,I378T,M169V,R302H,S271P,T536M,V6D" "0,0,0,0,0,0,0" 26261 4939 sw100;dbsnp1556 CRNS1_HUMAN;NP_065862.1 "F52I,G63D,L128V,M498L,P14T" "0,0,0,0,0" 57571 2347 sw10100;dbsnp1927 OSBL5_HUMAN;NP_065947.1 "A299T,A774T,D405N,E175K,E644G,E791K,G137S,P20H,P255L,P54L,R338P,R605S,R680Q,R740C,R826Q,T742I,T90I,V198I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114879 2667 sw10101;dbsnp23218;dbsnp23219 ATG10_HUMAN;NP_113670.1;NP_001124500.1 "A61T,C82R,K21R,L69R,M172I,N52K,P220H,R217Q,S62P,T212M" "0,0,0,0,0,0,0,0,0,0" 83734 12532 sw10102;dbsnp16610 RBM38_HUMAN;NP_059965.2 "A178V,A200D,C8Y,P212H,V226L" "0,0,0,0,0" 55544 12145 sw10103;dbsnp16260 SIRPD_HUMAN;NP_848555.2 "G193V,I104M,N55D,P58S,R72Q,V53I" "0,0,0,0,0,0" 128646 13034 sw10104;dbsnp16327 CST1L_HUMAN;NP_612140.1 "D58V,E138Q,I124V,I86T,R66K,T59A,T76M,T96M,W88R,Y62C,Y62F" "0,0,0,0,0,0,0,0,0,0,0" 128817 14013 sw10105;dbsnp16784 SNAB_HUMAN;NP_071363.1 "A61T,D96A,I119V" "0,0,0" 63908 10914 sw10106;sws1126;spmut825;dbsnp16338 GZF1_HUMAN;NP_071927.1 "A284V,D667N,G354S,K318N,N190S,P236R,Q275L,Q275P,Q275R,R164K,R566H,S320I,S595L,T681N,T75S,V269M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64412 3959 sw10107;dbsnp16074 TDIF1_HUMAN;NP_443183.1 "A110T,A183T,V73I" "0,0,0" 116092 10165 sw10108;dbsnp29805;dbsnp29806;dbsnp29807;dbsnp29808;dbsnp29809;dbsnp29810;dbsnp29811;dbsnp29812 SLIK2_HUMAN;NP_115928.1;NP_001137475.1;NP_001137476.1;NP_001137477.1;NP_001137478.1;NP_001137480.1;NP_001137481.1;NP_001137482.1 "C220R,S323N,S601P" "0,0,0" 84631 2929 sw10109;dbsnp22995 PCDC1_HUMAN;NP_061721.2 "A715S,C4W,D550V,D779H,E748G,G591D,I793V,I909T,L369F,L498V,N265S,N809S,P402T,P492S,P735L,P853R,Q449R,R602W,R820H,S496N,S729R,S919G,T144I,T204I,T276K,T705I,T957M,V364L,V554I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56135 2266 sw1010;dbsnp26304 LRCH4_HUMAN;NP_002310.2 "A285P,A86V,E39K,G301C,I354T,M670V,P338S,Q546E,R394Q,R529P,R529Q,R545C,S182F,S391N,V216I,V642M,V675I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4034 4242 sw10111;dbsnp16223 ZBP1_HUMAN;NP_110403.2 "A332V,A353T,A94T,C67R,D154H,E88K,G224S,G70R,K53R,M1I,M399V,N195K,Q258R,R166H,R17I,R229H,R367H,R51Q,S196G,S302L,S326L,T371A,V58F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81030 7966 sw10112;dbsnp2518;dbsnp2519 ABCG4_HUMAN;NP_071452.2;NP_001135977.1 "D415N,N345K,P15L,P348R,P352L,T196M" "0,0,0,0,0,0" 64137 4286 sw10114;dbsnp3787 CSRN2_HUMAN;NP_110436.1 "E211K,E396K,L481V,N65K,R57Q,S414G,T436M" "0,0,0,0,0,0,0" 81566 5340 sw10115;sws1128;dbsnp16133;dbsnp16134 SDCB2_HUMAN;NP_536737.3;NP_001186713.1 "G157R,G242R,L130F,L143P,R107C,R147C,R223C,S214F,V182M,V232M" "0,0,0,0,0,0,0,0,0,0" 27111 10910 sw10116 MUC3B_HUMAN "A698V,H877Y" "0,0" 57876 230 sw10117;dbsnp9252 XYLT2_HUMAN;NP_071450.2 "A614V,D56N,G215S,G60R,P418L,Q615H,R233Q,R305T,R424H,R636H,T540I,T607M,T801R,V675M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64132 2287 sw10118;dbsnp3971 GL8D2_HUMAN;NP_112592.1 "A37T,D186N,E42K,I22T,M273V,S126L,S41F,Y24C" "0,0,0,0,0,0,0,0" 83468 9688 sw10119;dbsnp3226 UN93B_HUMAN;NP_112192.2 "A142T,M204L,V344L,Y436C" "0,0,0,0" 81622 5172 sw1011;dbsnp11511 ZN254_HUMAN;NP_975011.3 "A386T,A526T,A91P,D93G,E410D,G85D,H77R,I231M,K292N,K509E,K537N,P321S,P573T,Q199E,R187L,R566I,R585W,R641Q,S23C,T317S,T394S,T457A,V594I,W632L,W632S,Y518H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9534 1203 sw10120 CYTM1_HUMAN C90S 0 84418 14697 sw10121;spmut2230;dbsnp26433 TRPV6_HUMAN;NP_061116.2 "A95T,C157R,D223N,I597V,L259Q,M378V,M681T,R134Q,R139C,R154H,R359Q" "0,0,0,0,0,0,0,0,0,0,0" 55503 3792 sw10122 RNAS7_HUMAN "A103P,H116Y" "0,0" 84659 13799 sw10123 NUCKS_HUMAN "E119G,L137P" "0,0" 64710 12056 sw10124;dbsnp16171 TMX4_HUMAN;NP_066979.2 "F128L,G303R,V193I,Y215C" "0,0,0,0" 56255 9689 sw10125;dbsnp16629 GTSFL_HUMAN;NP_789761.1 "A109T,A41V,C111W,D107N,D89N,E2K,E7K,F22Y,L56V" "0,0,0,0,0,0,0,0,0" 149699 13949 sw10126;dbsnp25085 KI13A_HUMAN;NP_071396.4 "D1621E,E1111K,E1111Q,E1656K,F1600S,M1415V,Q1190P,R1437Q,R771K,T1257I" "0,0,0,0,0,0,0,0,0,0" 63971 542 sw10127;dbsnp17284 ASCC2_HUMAN;NP_115580.2 "A457T,D407H,D546G,E104K,E588K,H273R,P16L,P423S,P529S,R121Q,R509Q,R571Q,R571W,R586H,R639L,R96C,R96H,V123I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84164 3548 sw10128;spmut1733;dbsnp5055 REN3A_HUMAN;NP_075387.1 "A204V,A319T,A323T,A450V,G328R,K398R,M326V,R250W,R377W,R64K,Y134C" "0,0,0,0,0,0,0,0,0,0,0" 65110 7083 sw10129;dbsnp20787 RBNS5_HUMAN;NP_071735.2 "D246N,E34Q,E669D,G425R,G757S,H37R,L591P,M722I,N662D,R283Q,R656P,S316G,T641A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64145 3324 sw1012;dbsnp26325 MPPB_HUMAN;NP_004270.2 "A294V,A375T,A3V,E396D,I221V,I320T,L35S,N446D,P56R,R488C,S71L" "0,0,0,0,0,0,0,0,0,0,0" 9512 6858 sw10130;dbsnp3745;hgmd0613_2509 ISCU_HUMAN;NP_998760.1 "A12V,F7C,F7V,P159A" "0,0,0,0" 23479 13592 sw10131;dbsnp16431 CT166_HUMAN;NP_848558.1 "R29W,V27A" "0,0" 128826 14441 sw10132;dbsnp29685 N62CL_HUMAN;NP_060151.2 "F54L,I177T,R159H,Y166D,Y74C" "0,0,0,0,0" 54830 6251 sw10133;dbsnp16141 DB129_HUMAN;NP_543021.1 "A122V,I63T,Q137E,T149S,V117F" "0,0,0,0,0" 140881 13310 sw10134;dbsnp16607 DB127_HUMAN;NP_620713.1 "G31R,K58R,R71H,R71S" "0,0,0,0" 140850 14662 sw10135;dbsnp16611 CT085_HUMAN;NP_848551.1 "G123C,I99V,R26H,R34Q,R72H,R74Q,V136L,V136M" "0,0,0,0,0,0,0,0" 128602 14133 sw10136;dbsnp16273 PED1A_HUMAN;NP_073597.2 "F304C,F347S,G423E,P327L,P394L,Q22H,S332L" "0,0,0,0,0,0,0" 64773 7507 sw10138;dbsnp14703 S6A17_HUMAN;NP_001010898.1 "A57P,A57T,E369K,I142V,I588S,K679R,N710S,P685S,R514H,V184I,V233M,V392I,V435M,V575M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388662 3780 sw10139;dbsnp24818 RSPH9_HUMAN;NP_689945.2 "A88V,E65K,V141M,V261I" "0,0,0,0" 221421 10743 sw10140;dbsnp13706 OPN3_HUMAN;NP_055137.2 "A167V,A171S,C210R,D384N,H77Y,L323F,M256I,P306A,R178T,R317Q,V134A,V183I" "0,0,0,0,0,0,0,0,0,0,0,0" 23596 8547 sw10141 WDR13_HUMAN H325R 0 64743 6919 sw10142;dbsnp18911 AUGN_HUMAN;NP_115787.1 "A52T,A95V,H112R" "0,0,0" 84417 13950 sw10143 TSN10_HUMAN "R187H,Y218H" "0,0" 83882 9542 sw10144;dbsnp9220 EPN3_HUMAN;NP_060427.2 "A492V,E152K,H396Y,L311M,L510P,M266T,M552T,N268S,P461S,P544T,R170H,R180Q,R194L,R25H,R357G,R72Q,R91W,S248I,S356P,T102A,T332P,T415I,T536N,V121I,V598I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55040 4772 sw10145;dbsnp2006 O2AG1_HUMAN;NP_001004489.1 "C141S,C141Y,C241R,H183P,I221N,L114P,L135V,L178H,N42S,P262S,P262T,Q65H,R299G,R299W,R54Q,R87C,T279A,T91I,V187L,V204M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144125 9213 sw10146;dbsnp2270 O10A5_HUMAN;NP_835462.1 "A232G,A88S,F29S,F95L,I136M,I316N,K41M,L96F,P230L,R142W,R221H,T241M,T85N,V282M,W262R,Y253C,Y279D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144124 10475 sw10147;dbsnp2011 O10A2_HUMAN;NP_001004460.1 "A134T,F247L,H207R,H43R,I240T,K219T,K258T,L233F,T78N,T86N,V145G,V188I" "0,0,0,0,0,0,0,0,0,0,0,0" 341276 10475 sw10148;dbsnp2001 O10A4_HUMAN;NP_997069.2 "F104V,F151L,L206P,L216R,L246F,Q237K,R221H,R262Q,R304Q,R304W,S279Y,W163R,Y121N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 283297 10475 sw10149;dbsnp1806 OR2D2_HUMAN;NP_003691.1 "A113T,A98T,H84Y,I163M,I163T,M202T,P182S,R220G,R220H,S148P,S151G,T161I,T280S,V302A,V30I,Y120S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120776 10147 sw10150;spmut329;dbsnp7348;hgmd0613_2128 CDT1_HUMAN;NP_112190.2 "A135V,A431T,A458V,A537V,A66T,C234G,C234R,E456A,E468K,E544V,G205S,I98V,P333L,P471A,P83L,Q117H,Q300H,R138W,R172C,R198C,R253H,R453W,R462Q,R516C,R535H,S491N,S503A,T262A" "0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,1,1,0,0,0,0,0" 81620 5899 sw10153;dbsnp6799 EHD4_HUMAN;NP_644670.1 "A42V,D215N,F356L,F371L,K373R,V154I" "0,0,0,0,0,0" 30844 5949 sw10154;spmut752;dbsnp22309 GBA3_HUMAN;NP_066024.1 "C354R,D106N,G182S,I260V,L127I,L419F,M172I,R213P,R82C,T126A" "0,0,0,0,0,0,0,0,0,0" 57733 7224 sw10155;dbsnp12166;dbsnp12167 S1PR5_HUMAN;NP_001159687.1;NP_110387.1 "A388D,E394K,L308H,L318Q,V117A,V284I" "0,0,0,0,0,0" 53637 8626 sw10158 CAD23_HUMAN "A1222T,A2853Q,A484P,D2954N,E2044K,E960K,F3125L,G490A,I1520M,I2125M,I2669V,L2473P,M1574T,N2962S,P2380L,Q1496H,Q2227P,R1437Q,R1804Q,R2066Q,R2171C,R2358Q,R3C,S1876N,S496N,S944G,T1671S,T1887I,T1999S,V1620M,V1675I,V1807M,V1908I,V2283I,V2933E,V746I" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64072 111 sw10159;dbsnp9712 KCNH6_HUMAN;NP_110406.1 "A783D,A866V,D695N,D843E,D903G,E426K,E640K,G165R,G441D,G601S,G736S,G758S,I348T,I541V,K669E,K684R,L761I,N33S,R243H,R385C,R675W,R715L,S766N,S80F,S879L,T270M,T925M,V302M,W414C,Y54C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81033 1429 sw1015;sws113 USH2A_HUMAN "A125T,D3144N,D644V,D703E,E2238A,E3088K,F4624V,F479S,F595S,F739L,G4838E,G516V,G713R,I1665T,I2106T,I2169T,I3335M,L1047V,L1470R,L1572F,L2886F,L365F,M3868V,N3099S,N3199D,P1059L,P3893T,R1486K,R2292H,R2875Q,R4192H,R464C,R4739K,R5031W,R517T,S1349P,S307I,S391I,S841Y,T3115A,T3835I,T911N,V2562A,V4433L,Y1757C" "0,0,0,0,0,0,0,0,0,1,0,1,1,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,1,1,0,0,1,0,1,1,0,0,0,1,0,0,0" 7399 23 sw10160;dbsnp10988 SPTN4_HUMAN;NP_066022.2 "A1237D,A1538V,A2341V,A2464G,A255V,A38T,A39V,A476P,G1331S,H1309Q,H1340R,H1663Q,I311L,K2479N,L1537M,L1945M,L691P,M2310I,P1858S,P1863R,P2211S,Q603L,R1365W,R2006Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57731 224 sw10161;dbsnp28756;hgmd0613_2212 CARD9_HUMAN;NP_434700.2 "A170T,A369T,E270V,E284A,G171S,G458A,N524T,R148W,R260W,R373Q,S12N,S336F,S460R,V385L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64170 6044 sw10163;dbsnp16410 VPS16_HUMAN;NP_072097.2 "A157V,A206T,A209T,D521N,E614K,G160S,I450V,I469L,P264L,R134W,R474H,R643C,S637I,V210M,V302M,V86M,W728R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64601 2969 sw10164 VPS11_HUMAN V770I 0 55823 2388 sw10165;dbsnp27659 DCSTP_HUMAN;NP_110415.1 "A40T,D349G,E192Q,F251S,F251V,I306S,L397F,L72M,P285L,P369Q,P432L,R428T,Y315F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 81501 7205 sw10166;dbsnp25471 AL8A1_HUMAN;NP_072090.1 "A420G,A6T,D359G,F402S,G211R,N5S,P401T,S120A,T129M" "0,0,0,0,0,0,0,0,0" 64577 6888 sw10168;sws1132;dbsnp12599;dbsnp12600;dbsnp12601;hgmd0613_684 CHST8_HUMAN;NP_001121368.1;NP_071912.2;NP_001121367.1 "D65Y,M409V,M413V,R189C,R307G,R77W,V265G" "0,0,0,0,0,1,0" 64377 8065 sw10169;dbsnp10553 SYT4_HUMAN;NP_065834.1 "A218P,D117N,F165Y,G394D,K84M,P229L,R384Q,S142N,S262L" "0,0,0,0,0,0,0,0,0" 6860 7932 sw1016;dbsnp9674 MED24_HUMAN;NP_055630.2 "A204T,F338S,N380D,P242S,R517H,R763W,R831C,T300M,T875A,V741I" "0,0,0,0,0,0,0,0,0,0" 9862 2147 sw10170;dbsnp22038;dbsnp22039 S26A1_HUMAN;NP_998778.1;NP_071325.2 "A277T,A56T,C41W,D636Y,D669E,G368S,G668R,L348P,P85L,Q51H,Q556R,R139Q,R25Q,R314H,R372H,R61H,R688Q,T182A,T185M,V385M,V445I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10861 4067 sw10172;dbsnp14934 ARV1_HUMAN;NP_073623.1 "A21V,A25S,G101E,N219T,T22S,Y32H" "0,0,0,0,0,0" 64801 11462 sw10173;dbsnp2268 O51V1_HUMAN;NP_001004760.2 "A208D,G96E,G96R,G96W,I133T,I308S,K275R,L267F,L36F,P167A,P62L,R131W,S161N,S233L,T126A,W59C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283111 10374 sw10174;dbsnp27919 MFTC_HUMAN;NP_110407.2 "G276S,I287V,R117H,R147H,V248I,Y163C,Y300C" "0,0,0,0,0,0,0" 81034 10535 sw10176 SEM6A_HUMAN "D567E,R559H,Y518H" "0,0,0" 57556 1984 sw10178;dbsnp10574;dbsnp10575 CCD68_HUMAN;NP_079490.1;NP_001137301.1 "C85Y,D151G,E201K,L239F,N269S,Q117E,T140M,V249A" "0,0,0,0,0,0,0,0" 80323 10026 sw10179;sws1133;spmut1959;dbsnp76 SLK_HUMAN;NP_055535.2 "A658G,C552Y,D117N,D573G,E604Q,E693D,E821K,G666E,I333M,I679T,K1176T,K19Q,K536R,K683N,M1121V,N748H,N931K,Q1173E,Q662H,Q670R,T697I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9748 1324 sw1017;dbsnp30499 GAGB1_HUMAN;NP_003776.2 "E138G,L128P,L75P,R117H" "0,0,0,0" 8712 13994 sw10180;dbsnp13205 GO45_HUMAN;NP_003657.1 "H45R,K370N,K4I,P378S,Q40R,R196Q,R254Q,R258H,S101C,S101Y,S361T,S49R,T369A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8548 8584 sw10181;dbsnp18846 PPIL3_HUMAN;NP_570981.1 "D146E,I46V,N97S,P94L,V117I" "0,0,0,0,0" 53938 13633 sw10182;dbsnp874 CJ011_HUMAN;NP_114413.1 "G176E,M138T,R156H,S153F" "0,0,0,0" 83938 13007 sw10183;dbsnp4248 S6A15_HUMAN;NP_877499.1 "A400E,A400V,D729V,E684D,G710R,I603M,N591D,T49A" "0,0,0,0,0,0,0,0" 55117 3780 sw10184;dbsnp4902;dbsnp4903;dbsnp4904;dbsnp4905 IF3M_HUMAN;NP_690876.3;NP_001159733.1;NP_001159734.1;NP_001159735.1 "D266E,F243L,N246K,Q138R,R140Q,R85Q,T68I" "0,0,0,0,0,0,0" 219402 11307 sw10185;sws1134;spmut2101;dbsnp3314 TAOK3_HUMAN;NP_057365.3 "A12D,C727Y,F166L,M882I,N176S,N176T,R281Q,S47N" "0,0,0,0,0,0,0,0" 51347 2104 sw10186;dbsnp26764 TMM60_HUMAN;NP_116325.1 "A93T,L81F,V42G" "0,0,0" 85025 14199 sw10187;dbsnp96 RASF4_HUMAN;NP_114412.2 "A155T,D235G,E158D,E96D,G157S,H10Y,M71I,M71R,P279L,R161H,R164Q,R75L,R88G,R89Q,S141R,S8N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83937 10244 sw10188;dbsnp13752;hgmd0613_1627 RBGPR_HUMAN;NP_036546.2 "A469V,D1114N,G1052C,I1038V,I1354V,I726V,L1165F,L1331I,L764F,N205S,N570S,P248L,P38S,Q58P,S1092T,S654P,T313I,T863A,V723E,Y1281C" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25782 992 sw10189;sws1135;dbsnp11540 KLK15_HUMAN;NP_059979.2 "D18N,E150D,G135A,G226D,H55R,L163F,P134L,R44C,R71L,R87W,R97H" "0,0,0,0,0,0,0,0,0,0,0" 55554 11236 sw1018;sws114;spmut628;dbsnp9794 ERN1_HUMAN;NP_001424.3 "A414T,N381S,N700S,P550R,P830L,Q477E,R627C,V418M" "0,0,0,0,0,0,0,0" 2081 2193 sw10190;dbsnp24526 RNF39_HUMAN;NP_079512.2 "A245T,A304E,D268N,P89R,R373G,S203P" "0,0,0,0,0,0" 80352 8153 sw10191;spmut505;dbsnp19921 DHX36_HUMAN;NP_065916.2 "D194E,E151K,G1005R,I583N,R1001Q,R406M,R545Q,S416C,T262P" "0,0,0,0,0,0,0,0,0" 170506 2079 sw10192;dbsnp21714 IPYR2_HUMAN;NP_789845.1 "E172K,K282N,L18M,L18R,P228L,R127L,R301C,R301H,R84Q,T22A,V243L" "0,0,0,0,0,0,0,0,0,0,0" 27068 10040 sw10193;sws1136;dbsnp27572 ADAM7_HUMAN;NP_003808.2 "C107Y,D118N,E25Q,E639K,E652D,F593L,G302E,G533E,G682S,H106Y,H243Y,H650L,I205V,I453T,K34N,L173P,L570V,L735P,M359I,M501I,N638H,P14S,P36S,P738L,Q722E,R213C,R31C,S292I,S292N,S703N,V180A,V244M,V300M,V358M,V71A,Y117F" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8756 3577 sw10194;dbsnp7882;dbsnp7884 SPNS1_HUMAN;NP_001135920.1;NP_114427.1 "A230P,G19R,G338S,P34L,Q44R,R186Q,R186W,R517H" "0,0,0,0,0,0,0,0" 83985 7091 sw10195;dbsnp1305 M4A6A_HUMAN;NP_690591.1 "A104T,A183S,G241E,I48T,L206Q,T185S" "0,0,0,0,0,0" 64231 11846 sw10196;dbsnp6863 RM46_HUMAN;NP_071446.2 "A35G,A36V,E68K,H106Y,R222W,R46L,V272I" "0,0,0,0,0,0,0" 26589 11295 sw10197;dbsnp20992 CHRD_HUMAN;NP_003732.2 "A529V,E133K,G387S,M630L,P104L,P476S,P94S,R243L,R243Q,R596Q,R937W,T457S,T480M,T533M,T633I,T820I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8646 2310 sw10198;dbsnp10913 CLC4M_HUMAN;NP_055072.3 "A213T,D291N,E138D,E210G,G364R,K246N,L79I,P28R,Q10K,Q118R,Q233R,R141Q,R164Q,R187Q,R287Q,S372I,T209M,V383I,V9M,Y205C,Y251C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10332 8508 sw10199;spmut881 HIPK2_HUMAN "R1027Q,R792Q" "0,0" 28996 1394 sw101;dbsnp6391 MEG11_HUMAN;NP_115821.2 "A905T,C552F,D47N,D899N,E878G,G308R,H242R,H317R,I988T,L474P,L861F,M908R,P974L,R875Q,S95N,T104M,T6M,T853P,V435I,V547I,V929M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84465 1587 sw10200;sws1137;dbsnp16613 S12A5_HUMAN;NP_001128243.1 "G724R,P1100L,P407A,R119C,R339Q,R975H,T420S" "0,0,0,0,0,0,0" 57468 1553 sw10201;dbsnp6832 ZF106_HUMAN;NP_071918.1 "A1080T,A1285G,A327T,A989V,C1608S,C1608Y,C1797W,D1518Y,E1161D,E309Q,H164Y,I646T,L1151M,L379P,M1100V,M1204L,M656V,N1301D,P1162T,P1297A,P818S,Q904R,R1135G,R1469H,R1599C,R926G,S1181C,S1572C,S203F,S420F,S490L,S991F,T199I,T932I,V1212L,V1215G,V291A,W103R,Y1629F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64397 501 sw10202;dbsnp27640 SO5A1_HUMAN;NP_112220.2 "A110T,A229T,A405T,G594V,K408N,L33F,M358V,P18L,P248S,P78R,R375Q,R607H,T104S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 81796 2908 sw10203;spmut1471;dbsnp20501;hgmd0613_1893 PARL_HUMAN;NP_061092.3 "A137G,A56V,G10S,G18S,G371S,P92S,S70G,V262L" "0,0,0,0,0,0,0,0" 55486 9002 sw10204;dbsnp1708 MMP27_HUMAN;NP_071405.2 "A355P,A68S,A68T,D447N,E266V,F298L,F390L,G205R,G501D,I477V,I85T,K77R,M30V,P19S,R22W,T142I,T24M,V414M,W304L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64066 6430 sw10205;spmut1545;dbsnp5418 PININ_HUMAN;NP_002678.2 "A305V,D328N,D67V,E526K,K461N,L537P,N409S,N419S,S375G,S441T,S671G,V509L" "0,0,0,0,0,0,0,0,0,0,0,0" 5411 3902 sw10206;spmut1760 RHBG_HUMAN C339R 0 57127 7025 sw10207 VCX3B_HUMAN K15T 0 425054 12611 sw10208;dbsnp29649 VCX2_HUMAN;NP_057462.2 "A70G,D102E,D139N,E109Q,E111Q,E119K,E119Q,E93K,E97Q,G98E,H101D,H101Q,L104P,P91S,T138S,T99S,V110L,V95L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51480 12611 sw10210;dbsnp28794 E41LB_HUMAN;NP_061987.3 "N816T,P754L,R282T,R368Q,V73M" "0,0,0,0,0" 54566 2617 sw10212;dbsnp21550;dbsnp21553;dbsnp21556 FOXP1_HUMAN;NP_001231745.1;NP_001231743.1;NP_116071.2 "A609T,M101V,N570S,N597T,P215A,P568S,S261P,S5P,T390S,T613N,V445M,Y565C" "0,0,0,0,0,0,0,0,0,0,0,0" 27086 3702 sw10213;dbsnp27319 CRLD1_HUMAN;NP_113649.1 "A286S,G180S,H457L,L31F,P130L,R420H,V353I" "0,0,0,0,0,0,0" 83690 6671 sw10214;dbsnp2153 O51B5_HUMAN;NP_001005567.2 "C95S,G145A,G5S,H179Y,H242R,I102T,L108P,L220F,L236V,P160L,R194Q,R88G,T78K,V154I,V248I,V27I,W84C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 282763 10374 sw10215;dbsnp2154 O51B6_HUMAN;NP_001004750.1 "C120R,C239F,F192L,F305L,G70R,I90T,K221N,K5T,L172F,L280F,N40S,R125H,R129S,R145G,R160H,R160L,R261M,R303C,S126N,S169A,S275R,T123A,T131I,T191N,V254L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390058 10374 sw10216 O51J1_HUMAN C100Y 0 79470 10508 sw10217;dbsnp1724 O51I1_HUMAN;NP_001005288.1 "A226D,A252S,D72E,F284L,F64L,G304A,G3V,H264Y,L138V,N71S,R124H,R302C,S261F,S295R,S295T,T214A,T7N,V164L,V83M,Y294D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390063 9861 sw10218;dbsnp2309 O51I2_HUMAN;NP_001004754.1 "A10V,A294T,C241F,F85L,M1I,M59T,R122C,R151P,R231C,R263C,R263H,S54G,T134A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390064 9861 sw10219;dbsnp2189 O52D1_HUMAN;NP_001005163.1 "A209S,D213E,G249D,I199T,I251T,P293L,R154C,R304W,T137N,V197A,Y221F" "0,0,0,0,0,0,0,0,0,0,0" 390066 10020 sw1021;dbsnp4229 LGR5_HUMAN;NP_003658.1 "A411G,D428N,F482L,H218R,H37P,H383R,H846Y,L424V,P25S,P781A,Q355R,Q457H,Q540R,R662H,S186L,S360F,S435L,S461P,T346P,T346S,T674M,T870N,V214I,V278A,V347I,V666A,V885M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8549 2251 sw10220;dbsnp1839 UBQL3_HUMAN;NP_059509.1 "A268T,A550T,C255R,C79S,D450Y,E528A,G642E,I177V,I210T,L221M,L221P,L221Q,M265T,M546T,N285D,P214L,Q317E,R159Q,R239G,R525Q,R624Q,S446L,S461Y,T287A,T290S,T552M,V555M,V645M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50613 4534 sw10222;dbsnp22030 SNX25_HUMAN;NP_114159.2 "E318K,E609D,G541R,H70Y,I586V,I739V,P141L,R109W,T661R,T725I,T756I" "0,0,0,0,0,0,0,0,0,0,0" 83891 2960 sw10223;dbsnp25906;dbsnp25907 CPVL_HUMAN;NP_112601.3;NP_061902.2 "A435V,G22A,G64D,M5T,M71V,N229T,R25H,R25P,R398H,R464Q,S11L,S61N,T348S,V223M,Y168H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54504 7084 sw10224;dbsnp14002 MOD5_HUMAN;NP_060116.2 "A6T,F202L,R205L,R332H,R79P,T208M,V169L,V169M" "0,0,0,0,0,0,0,0" 54802 7267 sw10227;dbsnp29955 TCAL2_HUMAN;NP_525129.1 "A130V,D19G,E119G,G68A,P12A,P25S" "0,0,0,0,0,0" 140597 12390 sw10228;dbsnp3418;dbsnp3419;dbsnp3420 CL065_HUMAN;NP_689482.1;NP_001137377.1;NP_001181924.1 "A134T,K138R,R15Q,R24Q,T11I" "0,0,0,0,0" 91574 13610 sw1022;dbsnp8761;dbsnp8762 TAD2A_HUMAN;NP_001159577.1;NP_001479.3 "I225V,I351M,K268R,K316Q,M115V,P145S,P6S" "0,0,0,0,0,0,0" 6871 7704 sw10230;dbsnp14239 TXNIP_HUMAN;NP_006463.3 "D360N,P174S,P93L,Q134L,R177Q,R177W,R312Q,R343Q" "0,0,0,0,0,0,0,0" 10628 8776 sw10231;dbsnp29924 ATX3L_HUMAN;NP_001129467.1 "G332D,L266F" "0,0" 92552 9317 sw10232;dbsnp10536 HRH4_HUMAN;NP_067637.2 "A138V,A143T,H206R,M136L,R204C,R386Q,R386W,S241L,S284C,S327L,T76M,V88G" "0,0,0,0,0,0,0,0,0,0,0,0" 59340 8800 sw10234;dbsnp13804 GCP60_HUMAN;NP_073572.2 "E187D,E193D,E356A,K154E,M331T,R214C,R214G" "0,0,0,0,0,0,0" 64746 6168 sw10235;dbsnp19025 G3ST2_HUMAN;NP_071417.2 "A164V,A347V,F151L,G325S,G6D,M4L,P143L,P341L,P49R,R13Q,R89G,V217M,Y153C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64090 8627 sw10236;dbsnp28462 KDM4C_HUMAN;NP_055876.2 "A591V,A614V,D393Y,D396N,D469G,E206D,E5V,E669K,E709D,F373L,I464V,I603T,K772R,L617F,N697S,P478S,P478T,P489L,Q442R,Q767E,R371Q,R745W,R816Q,S233C,S459Y,S492T,S534C,S534R,T525I,V1039I,V910G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23081 1871 sw10237;dbsnp22422 NDST4_HUMAN;NP_072091.1 "A776V,E397Q,F194C,G350A,I283V,I621V,I694T,N538K,R12Q,R791H,V537G,V84M,Y353H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64579 2699 sw10241;dbsnp26983;hgmd0613_2029 TPK1_HUMAN;NP_071890.2 "L40P,N219S,N50H,P77L,R33H" "1,1,1,0,0" 27010 12057 sw10242;spmut1538;dbsnp14675 PIGM_HUMAN;NP_660150.1 "C317Y,E283K,F365L,N384D,T77I" "0,0,0,0,0" 93183 8089 sw10243;dbsnp20675 PTN23_HUMAN;NP_056281.1 "A1319V,A944T,E1250K,E1454K,E261K,E604D,E830D,F161L,G1095A,G859R,H1385Q,I1540V,P1099S,P1510L,P1545L,P543L,P784S,P829L,P915L,R1172Q,R1182Q,R1599Q,R625C,S86L,V1330M,Y1446C,Y615S" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25930 699 sw10245;spmut2331;dbsnp6784 UN45A_HUMAN;NP_061141.2 "A188V,A322V,G437C,G478C,G690S,H68L,K707R,M156I,M264I,P721T,P857L,Q251E,Q251K,R133Q,R144Q,R240P,R240Q,R325W,R431Q,R792C,R793Q,R836W,S668Y,T796K,T796M,V180M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55898 2366 sw10246 MFSD1_HUMAN "I271T,K168E" "0,0" 64747 6417 sw10247;dbsnp26420;dbsnp26421;dbsnp26422 LRRN3_HUMAN;NP_001093128.1;NP_060804.3;NP_001093130.1 "A504T,A566V,D24G,I354T,N328S,P157R,R38K,S427N" "0,0,0,0,0,0,0,0" 54674 3908 sw10248;dbsnp16334 CRSPL_HUMAN;NP_848586.1 "A82T,D68N,F15C,H72Y,L245P,M87V,N195D,P5L,P79A,R53C,S125Y,T165I" "0,0,0,0,0,0,0,0,0,0,0,0" 140902 11843 sw10249;dbsnp16071 SRMS_HUMAN;NP_543013.1 "A353T,A397V,A453T,C292Y,D377E,G124R,G75R,G86S,I19T,I88V,K391R,L232R,L277P,L436P,L81P,P112A,P119L,P218L,P325L,P452L,R161W,R170Q,R73C,S465T,V102M,V222M,V255M,V301L,V457L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6725 6874 sw1024;dbsnp29621 GPC4_HUMAN;NP_001439.2 "A442V,E391D,I273V,K521E,L13Q,V317M" "0,0,0,0,0,0" 2239 5753 sw10250;hgmd0613_2110 DNJC5_HUMAN L115R 1 80331 12996 sw10251;dbsnp16285 ABHGB_HUMAN;NP_542189.1 "E228K,L10Q,P164L,R160C,R362Q,R370S,V213M,V7M" "0,0,0,0,0,0,0,0" 140701 7225 sw10252;spmut1112;dbsnp16172 LIME1_HUMAN;NP_060276.2 "A139V,P211L,R83W" "0,0,0" 54923 10983 sw10253;spmut882;dbsnp1358 HIPK3_HUMAN;NP_005725.3 "C191R,G110E,G170E,G586R,I1017V,I1186V,N526D,N650S,P729L,P731R,Q142R,R247S,R42W,R854Q,R933I,S500N,S740F,V1058A,V185I,V474I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10114 1378 sw10254;dbsnp14951 CA198_HUMAN;NP_116189.1 "A178V,A274S,E204D,K306R,R262H,R262L,S156F,S209L" "0,0,0,0,0,0,0,0" 84886 10222 sw10255;spmut1046 KCNKF_HUMAN "G95E,P260T,P261H,P323L" "0,0,0,0" 60598 8710 sw10257;dbsnp16624 OFUT1_HUMAN;NP_056167.1 "D348N,E313K,H76R,L322F,M251V,R122Q,T279M" "0,0,0,0,0,0,0" 23509 8835 sw10258 TSY26_HUMAN P246H 0 - 7812 sw10259;dbsnp13784 TOR3A_HUMAN;NP_071766.2 "F13L,H301Q,I329T,P374T,R341C,W88C,Y358S" "0,0,0,0,0,0,0" 64222 8647 sw10260;sws1142;dbsnp3393 WNK1_HUMAN;NP_061852.3 "A1546V,A779V,H823R,I736V,I801V,Q776H,Q778H,Q944R,R2380W,S820C,T764A" "0,0,0,0,0,0,0,0,0,0,0" 65125 203 sw10261;dbsnp14096 AMPB_HUMAN;NP_064601.3 "A440P,A45V,A630T,G349V,G487S,H83P,I450V,K260N,L277P,R317C,S240L,V579I" "0,0,0,0,0,0,0,0,0,0,0,0" 6051 4590 sw10262 DPEP2_HUMAN "H468D,P201R" "0,0" 64174 6432 sw10263;dbsnp18686 OSGP2_HUMAN;NP_071748.2 "A229P,A229S,A98T,L306V,N27H" "0,0,0,0,0" 64172 8295 sw10264;spmut1567;dbsnp14817 PLK3_HUMAN;NP_004064.2 "A448V,C613S,D491N,E554K,G238S,G370S,I325V,L283F,L68F,M197V,R120G,R163L,R302C,R483C,R484H,R523W,S498L,S618P,T262M,T614I,T61S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1263 4627 sw10265;dbsnp5797 SAV1_HUMAN;NP_068590.1 "A185D,F139L,G235E,P147L" "1,0,0,0" 60485 8929 sw10267;sws1143;dbsnp20754 CSTN2_HUMAN;NP_071414.2 "E162A,E910K,G703R,H896Y,I306N,I331T,R28G,R600H,R638Q,R777C,T287M,T341A,V366I,V677M,V748L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64084 2311 sw10268;dbsnp29814 NXF3_HUMAN;NP_071335.1 "E383G,N186I,N186K,R409Q,R409W" "0,0,0,0,0" 56000 6114 sw10269;spmut491;dbsnp24839 DEFI6_HUMAN;NP_071330.3 "N287H,N287S,N287T,P616L,Q621P,R104P,R578H" "0,0,0,0,0,0,0" 50619 4788 sw1026;dbsnp24635;dbsnp24636;dbsnp24637;dbsnp24638 GEMI_HUMAN;NP_001238920.1;NP_056979.1;NP_001238919.1;NP_001238918.1 "L48F,N15H,N18T,R54W,S60P,T203M" "0,0,0,0,0,0" 51053 12762 sw10271;dbsnp16465;hgmd0613_1605 E41L1_HUMAN;NP_036288.2 "D502N,I90V,K548R,P484L,P547R,P687L,P854S,R189K,R248Q,R572C,R659Q,S759N" "0,0,0,0,0,0,1,0,0,0,0,0" 2036 2709 sw10272;dbsnp16289 CST9L_HUMAN;NP_542177.1 "F124C,H109P,H32Q,S113R,S62I,T57A,V86I" "0,0,0,0,0,0,0" 128821 13974 sw10273;dbsnp16058 RD21L_HUMAN;NP_001130038.2 "C90R,D353Y,G419D,H423P,I152L,I534L,L227I,M122T,S537N" "0,0,0,0,0,0,0,0,0" 642636 5757 sw10274;dbsnp16623 ZHX3_HUMAN;NP_055850.1 "A311V,A52T,A737T,D750V,E671K,L410P,L717S,N310S,N757D,R545C,S78F,T292A,T439A,V280L,V280M,V396I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23051 2303 sw10275;dbsnp17312 SEHL2_HUMAN;NP_055324.2 "C306R,E123K,E3K,E3Q,H185Y,L194P,M309V,Q276R,S298N,S46N,T133M" "0,0,0,0,0,0,0,0,0,0,0" 253190 10563 sw10276;dbsnp17878 CV032_HUMAN;NP_201575.3 "D30N,K59R,R46G,R69H" "0,0,0,0" 91689 14563 sw10278;dbsnp16428 GTPB5_HUMAN;NP_056481.1 "A183V,A337V,A372V,A391T,G270S,G47R,G47S,H262Q,H93R,K123R,L221H,R156Q,R242Q,R33W,R360Q,S136G,T223M,V152I,V159M,V251M,V266I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26164 8465 sw10279;spmut1893;dbsnp9387 SENP3_HUMAN;NP_056485.2 "A303P,R41L,S114C,W515R" "0,0,0,0" 26168 5500 sw10280;dbsnp26595 OSBL3_HUMAN;NP_056365.1 "A227V,A383T,A518V,D859N,G260S,G744E,H755R,M354V,R277Q,S22N,V676L" "0,0,0,0,0,0,0,0,0,0,0" 26031 2677 sw10281;spmut1976;dbsnp21981 SMRCD_HUMAN;NP_064544.2 "A52T,G981E,H643Y,K352E,L135F,M138V,N756S,P351Q,P351S,P733A,R140C,S245Y,S247N,S66F,T429A,T969A,V301A,V972A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56916 1991 sw10282;dbsnp10920 PKHA4_HUMAN;NP_065955.2 "D547N,E172D,E463Q,E537K,G705A,G742V,I37V,L399P,L494P,P533R,P702A,P702T,R208G,R588Q,R597Q,R610H,R91H,S20Y,T216A,T714A,V638I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57664 3372 sw10283;dbsnp37 GSTO2_HUMAN;NP_899062.1 "C130Y,L143P,N142D,N58D,V41I" "0,0,0,0,0" 119391 12058 sw10284;dbsnp16389 ZN335_HUMAN;NP_071378.1 "A105T,A276T,A941T,D865E,D985Y,F723V,G101S,G98E,P1267Q,P589A,P655S,Q169R,R1131K,R270C,R284H,R473H,R481G,R65C,S294T,T996A,V35L,V644I,V99G,Y603H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63925 1079 sw10285;dbsnp16309 ESF1_HUMAN;NP_057733.2 "D339Y,E604A,G596D,H175R,I550T,I550V,I824L,L645R,M765V,N772S,P386L,R30Q,R795Q,T117P,T319M,V32I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51575 2895 sw10286;dbsnp16143;dbsnp16144 BAFL_HUMAN;NP_848572.3;NP_001014977.2 "N3D,T78S" "0,0" 140836 14704 sw10287;dbsnp24952 KLH31_HUMAN;NP_001003760.2 "A122S,A478S,A508T,C315S,D224Y,D364H,E577K,G572D,I400V,M238T,N11S,N257S,P106A,S183T,V111M,V156I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401265 4751 sw10289;dbsnp13088 ACTL8_HUMAN;NP_110439.2 "A3S,E329K,I55V,L73V,P37Q,P97S,R245C,R48C,R91W,V206G,V320I" "0,0,0,0,0,0,0,0,0,0,0" 81569 9280 sw1028;dbsnp24267 ECI2_HUMAN;NP_996667.2 "A163D,A259V,A313P,A344V,L202V,M47I,N243S,P322S,R265G,T137A,V384M" "0,0,0,0,0,0,0,0,0,0,0" 10455 8701 sw10290;sws1145;dbsnp14379 ZN644_HUMAN;NP_958357.1 "A794V,C699Y,E765A,E885D,I587V,K707E,L1147P,M556V,N1097S,N46D,R1100H,R1295Q,R302H,R680G,S493R,S672G,S779G,T242M,T566S,T870A,V715I" "0,1,0,0,1,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0" 84146 1111 sw10291;dbsnp13075 HEAT1_HUMAN;NP_060542.4 "A1097T,A1430V,A1714V,A492P,A564T,A580T,D1279N,D1361G,D1570E,D342N,D957G,E1548K,E2017G,G336E,G570R,H348R,H360R,I1102T,I1277L,I1366T,I1366V,I179T,I538V,I727T,K1827E,K184E,L1419V,L2045V,L454M,L459I,L681V,M263V,M350V,M607V,N1333S,N1592S,N1630D,N1666D,N1694S,N1967D,P1688A,P951L,P951R,Q1040L,Q1046H,Q1264H,Q424R,R1654H,S1257G,S1559N,S2077L,S884N,S946G,V1123G,V1854A,V1854E,V1854G,V790I,W2062R,Y1433C,Y771C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55127 361 sw10292;sws1146;dbsnp29607 DUS21_HUMAN;NP_071359.3 "G13S,I188V,M186T" "0,0,0" 63904 13169 sw10293;dbsnp16645 VIAAT_HUMAN;NP_542119.1 "S423G,T521N" "0,0" 140679 6213 sw10294;dbsnp2025 CK001_HUMAN;NP_073598.1 "K49Q,Q85H,R67H,V40A" "0,0,0,0" 64776 13921 sw10295;dbsnp7659 ZN768_HUMAN;NP_078947.3 "A488S,E181D,E182G,N187S" "0,0,0,0" 79724 5988 sw10296;dbsnp10455;hgmd0613_2015 PIEZ2_HUMAN;NP_071351.2 "A1827D,A2544T,C1148F,D1636N,E1898Q,E2575K,E662A,G1763A,G216D,G223E,H1376Q,I1941V,I2473M,K1650E,N118S,P2181L,P2594S,P974L,Q1488E,R1240G,R1595Q,R1611Q,R1921C,R2064T,R385K,R478H,R58W,R915H,S1203N,S1289F,S2607Y,T1556M,T1735R,T1782M,T2316M,T2550I,V1227I,V1354I,V2094G,V2463I,V2531I,Y1035H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63895 184 sw10297;sws1148;dbsnp1437 ZBTB3_HUMAN;NP_079060.1 "A327T,A327V,D367G,G315A,I574M,P373S,R307S,S224P,S455A,T50S" "0,0,0,0,0,0,0,0,0,0" 79842 5501 sw10298;sws1149;dbsnp27738;hgmd0613_2158 SG196_HUMAN;NP_115613.1 "D336N,I189V,I296V,M125L,M301T,N7S,R200Q,S48P,T174M,V254M,Y140F" "0,0,0,0,0,0,0,0,0,0,0" 84197 9661 sw10299;dbsnp21773 THAP9_HUMAN;NP_078948.3 "A670E,D695N,H471P,I134T,I663V,K655Q,L299F,M284I,M325T,N812D,R189Q,R712K,T121A,V833I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79725 2603 sw1029;dbsnp2358 RMXL2_HUMAN;NP_055284.3 "A4G,A66V,D317N,G262V,L15F,R266H,T134A,Y308C" "0,0,0,0,0,0,0,0" 27288 8748 sw102;dbsnp20956 CDHR4_HUMAN;NP_001007541.2 "G495R,R582S,R5K,S732R,T291M,V226I,V567M" "0,0,0,0,0,0,0" 389118 3299 sw10300;spmut2137;dbsnp14510 TFB2M_HUMAN;NP_071761.1 "A16S,A64T,E29K,G90R,H264Y,M352V,P156L,R170L,S48F,Y88C" "0,0,0,0,0,0,0,0,0,0" 64216 8664 sw10301;dbsnp21736 ZCHC4_HUMAN;NP_079212.2 "D72H,H241R,K475N,L396H,N148S,P382L,R499G,S16T,S402Y" "0,0,0,0,0,0,0,0,0" 29063 6431 sw10302;spmut315;dbsnp20528 CDCP1_HUMAN;NP_073753.3 "A53E,A672T,A673V,D709G,E293K,G150C,G150R,G596S,I44V,I504M,Q525R,R362Q,R763Q,T667I,T667S,V109A,V264I,V346L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64866 2998 sw10303;dbsnp5170 SLIK6_HUMAN;NP_115605.2 "G732E,G732V,L25F,P315R,Q414R,S712R" "0,0,0,0,0,0" 84189 2952 sw10304;dbsnp16333 DHX35_HUMAN;NP_068750.2 "A641V,C233R,G95S,I189T,I351V,I610V,N441S,P320R,P703L,R124K,R536C,R651C,S399L,S692P,T237A,V378L,Y368H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60625 4052 sw10305;dbsnp18668 F124B_HUMAN;NP_001116251.1 "F111L,G381R,I257T,L436F,S118C,S118G,S301I,T404A" "0,0,0,0,0,0,0,0" 79843 7488 sw10306;dbsnp11008 OCEL1_HUMAN;NP_078854.1 "A109G,A124V,D253N,D254N,E182A,G174R,P4T,Q210H,R42L,S16L" "0,0,0,0,0,0,0,0,0,0" 79629 11604 sw10307;dbsnp11371;dbsnp11372 ZN576_HUMAN;NP_001138819.1;NP_077303.1 "C117G,P81L,R131C,R38H,S20N,T100P" "0,0,0,0,0,0" 79177 13540 sw10308;spmut1537;dbsnp6884;hgmd0613_2097 PIF1_HUMAN;NP_079325.2 "A631P,C284R,C467S,D626N,E505K,F77L,G275S,G478A,G535R,I150V,I640N,P357S,R112S,R197K,R294W,R358W,R491Q,R592C,R592H,R615Q,S223T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80119 4682 sw10309;dbsnp3389 RERGL_HUMAN;NP_079006.1 "A34S,I86V,M163V,R103Q,R183H,R28Q,T107I,V118L,V121A" "0,0,0,0,0,0,0,0,0" 79785 12857 sw1030;spmut195;hgmd0613_705 BAF_HUMAN A12T 1 8815 14761 sw10311;dbsnp21020 NSUN3_HUMAN;NP_071355.1 "A295V,G34E,I251V,L71F,Q227R,S78F" "0,0,0,0,0,0" 63899 9908 sw10312;dbsnp12110 IGFR1_HUMAN;NP_078936.1 "C112Y,C81F,G276C,G61R,I182L,L257M,P198S,P20S,P269A,R337W,S219P,T9M,W189R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79713 9543 sw10313;dbsnp408 STN1_HUMAN;NP_079204.2 "E121K,R336H,S14C,S248C,S265R,T151A" "0,0,0,0,0,0" 79991 9234 sw10314;dbsnp552;hgmd0613_638 BICC1_HUMAN;NP_001073981.1 "D814V,E682D,E932G,G821E,G8D,I424V,M559V,N236H,N711T,N870D,N945S,P613L,Q658H,R720Q,R800Q,R819Q,S943P,T666M,T845M,V206M" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80114 2218 sw10315;dbsnp14507 DEN2D_HUMAN;NP_079177.2 "A251V,A398E,G145C,G145S,G164S,R149H,R87W,S234F,S282N,V380E" "0,0,0,0,0,0,0,0,0,0" 79961 7184 sw10316;dbsnp1697 PCX3_HUMAN;NP_115599.2 "D577G,D577V,G564S,H1822Q,K813N,Q258R,R1317H,R1917Q,R490W,R578H,S1015N,S458C,T1159M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 399909 408 sw10317;dbsnp1922;hgmd0613_2090 CLMP_HUMAN;NP_079045.1 "D55N,G300D,L151F,P100S,R69H,V120M" "0,0,0,0,0,0" 79827 9140 sw10318 STPAP_HUMAN L442F 0 64852 2545 sw10319;dbsnp1826 CCD86_HUMAN;NP_077003.1 "K334Q,P114L,P353L,Q153H,Q168P,R302G,R314Q" "0,0,0,0,0,0,0" 79080 9423 sw10320;dbsnp27616;hgmd0613_2030 SOX17_HUMAN;NP_071899.1 "D359E,E364D,G178C,G381A,Y259N" "0,0,1,0,1" 64321 8296 sw10322;dbsnp7629 TM231_HUMAN;NP_001070886.1 "D207H,E264A,L6V,R237T" "0,0,0,0" 79583 9803 sw10323;dbsnp23790 F134B_HUMAN;NP_001030022.1 "Q379E,R127C,V203M" "0,0,0" 54463 6714 sw10324;spmut1957;dbsnp16649 SLAP2_HUMAN;NP_115590.1 "P44L,R163C,R163H,V210M" "0,0,0,0" 84174 11679 sw10325;dbsnp7735 NARFL_HUMAN;NP_071938.1 "A228T,A365T,A435T,E92K,F152Y,G425S,H444R,I146T,K199R,R59Q,S301T,V170L,V38M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64428 7085 sw10326;dbsnp9307 DHX33_HUMAN;NP_064547.2 "D681E,E252G,E521D,F239L,H483D,K515E,M322L,P382T,P637S,P649L,R118C,R118H,R567Q,R621C,R621G,R88Q,T397M,V248L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56919 4014 sw10327;dbsnp28938 NOL6_HUMAN;NP_075068.2 "A662V,D667N,D789Y,H212Y,H366Y,K956N,L1005S,L237V,L307I,L550V,M1047L,N1118S,N920S,P52S,Q114R,R1104H,R110W,R153C,R173Q,R252H,R296C,R521Q,R71H,R723W,R764H,R826C,R955C,R992Q,S587L,T782M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65083 1567 sw10328;dbsnp836 ZDHC6_HUMAN;NP_071939.1 "D41N,F10L,G86E,H296D,R317C" "0,0,0,0,0" 64429 8318 sw10329;sws1151;dbsnp18644 CB044_HUMAN;NP_079479.1 "G12R,K325R,K325T,K546R,K552N,K7Q,P502L,Q596R,S274A,S278F,S676R,S98R,T102M,T484A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80304 3871 sw1032;dbsnp25139;hgmd0613_1108 STX11_HUMAN;NP_003755.2 "C280Y,E206K,E31Q,L204H,L9R,M76I,R220L,R49Q,S28L,T277A,V267M" "0,1,0,0,0,0,0,0,0,0,0" 8676 11155 sw10330;dbsnp23159 YTDC2_HUMAN;NP_073739.3 "A255T,A262T,A624G,D651H,H1112R,H654R,I1027M,K672N,L1253V,L1409Q,L81I,M1286V,M610I,N1021S,N990S,P12L,R265Q,R880H,S1251P,S652N,T565S,V212L,Y389F,Y980C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64848 938 sw10332;dbsnp4101 RPAP3_HUMAN;NP_078880.2 "A310T,D108E,D564Y,G427E,I530L,I611V,L115V,P458S,R100C,R307L,T157A,T361R" "0,0,0,0,0,0,0,0,0,0,0,0" 79657 4427 sw10333;dbsnp9087 BCAS3_HUMAN;NP_001092902.1 "I106V,N87S,R127K" "0,0,0" 54828 2446 sw10334;dbsnp1470 ALG9_HUMAN;NP_001071158.1 "A232P,E523K,G611S,I528S,P506L,S255L,S76R,V289I,Y287C,Y580C" "0,1,0,0,0,0,0,0,1,0" 79796 4937 sw10335;dbsnp5749 NO66_HUMAN;NP_078920.2 "F218S,G562R,K17R,L32M,M322V,P102L,Q239H,S615T,V364A" "0,0,0,0,0,0,0,0,0" 79697 4683 sw10337 WDR55_HUMAN "C151R,R50C,S210F,Y235C" "0,0,0,0" 54853 8930 sw10338 MAGIX_HUMAN "F323L,H112R,R53H,V173L" "0,0,0,0" 79917 10041 sw10339;spmut1793;dbsnp9659 RN167_HUMAN;NP_056343.1 "A13V,L151F,N121K,R265G,V347L" "0,0,0,0,0" 26001 9662 sw1033;dbsnp26082 SKAP2_HUMAN;NP_003921.2 "A202S,L20V,P12L,S253T,W337G" "0,0,0,0,0" 8935 9444 sw10340;dbsnp11826 RANB3_HUMAN;NP_015561.1 "A209T,A314V,D281N,D466N,E246K,E279K,E535K" "0,0,0,0,0,0,0" 8498 5589 sw10341;spmut586;dbsnp6035 EGLN3_HUMAN;NP_071356.1 "R71Q,S234T,V136L" "0,0,0" 112399 8010 sw10342;dbsnp10313 FA59A_HUMAN;NP_001229338.1 "A490V,D335N,E589A,I813V,K291R,L703R,N129S,R558W,T243N,T720M,V580I" "0,0,0,0,0,0,0,0,0,0,0" 64762 2732 sw10343;dbsnp11419 ZN552_HUMAN;NP_079038.2 "T192S,T236A,T269M,W242C" "0,0,0,0" 79818 2862 sw10344;dbsnp4975 K226L_HUMAN;NP_079389.2 "A626V,D215V,E404K,G152R,G509S,H171L,H22L,M216I,N337S,R348H,V112A,V202I,Y347H,Y513C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80183 4461 sw10345;dbsnp21799 PG2IP_HUMAN;NP_079363.2 "A469S,A626V,D604N,E516Q,H689N,I292T,I78V,L34F,P2T,T260I,T355A" "0,0,0,0,0,0,0,0,0,0,0" 80157 4084 sw10346;dbsnp4050 CL049_HUMAN;NP_079014.1 "N149S,Q55R,R150Q,S33N" "0,0,0,0" 79794 12858 sw10347;dbsnp14886 GREM2_HUMAN;NP_071914.3 "Q76E,R95G,V131I" "0,0,0" 64388 13294 sw10348;dbsnp10569 RNZ1_HUMAN;NP_061166.1 "C130R,G40A,M355V,R179C" "0,0,0,0" 55520 9343 sw10349;dbsnp27393;dbsnp27394 SH24A_HUMAN;NP_071354.2;NP_001167630.1 "E168V,E209G,E216G,E284K,G263A,I188V,I396M,I396T,K240R,K303R,L371I,P439T,R247C,R324W,S275N,S315C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63898 7508 sw10350;dbsnp13335 EXO5_HUMAN;NP_073611.1 "D115N,G172V,H329L,I181V,L151P,M204V,P167S,R202C" "0,0,0,0,0,0,0,0" 64789 9141 sw10351;sws1152;dbsnp6531 PEAK1_HUMAN;NP_079052.2 "D836E,E1166D,G213R,G319V,G41D,P1408Q,R1071K,R1699G,R618P,R618Q,S1542T,S440P,S792I,T1063S,T1077P,T1429M,V240I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79834 593 sw10352;dbsnp23505;hgmd0613_2045 CE042_HUMAN;NP_075561.3 "A1200E,A1200V,A1804S,A1928G,A2539V,A74V,C1816Y,C1852G,D2850G,E1844D,F2033C,F2033S,G1248D,G3062R,G3098R,H1506R,H3127R,I1352V,I1437T,I2143V,K693R,K912R,L471V,L816V,M2873V,M2946T,N2110D,N2155H,P1521L,P1567S,P1794L,P2456L,P2592L,P2645S,P2728T,P2839L,Q2696E,Q399H,R1193C,R1286H,R1336W,R1421H,R1459T,R1700I,R2470G,R2493Q,R408W,R628K,S1468C,S1487N,S1772G,S2287N,S356A,S711L,T1598K,T1838A,T2302M,T2771I,V1394A,V1777I,V32I,Y203C,Y2959C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65250 123 sw10353;dbsnp25023 RPF2_HUMAN;NP_115570.1 "A41G,G60S,K192N,R176H,T293I,T3A,Y111C" "0,0,0,0,0,0,0" 84154 10734 sw10354;dbsnp26512 CG069_HUMAN;NP_079307.2 K32E 0 80099 14380 sw10355;dbsnp1837 CK067_HUMAN;NP_078960.1 "G18A,V49A,V92M" "0,0,0" 28971 14381 sw10356;dbsnp27526 DOCK5_HUMAN;NP_079216.4 "A1052T,A1749E,A1838T,C956F,D1443N,D1582H,E1836K,I1021V,I215V,I332V,K1285R,K1825R,K229R,L986F,M364V,M987L,N1404S,N20I,N416S,P1096S,P1694L,Q1023R,Q1577E,Q213R,Q250R,Q563K,R1019H,R524C,R524G,R524H,R931Q,S471C,S747P,S907T,T1490M,T1654M,T221A,T469M,T861I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80005 511 sw10358;dbsnp485 GI24_HUMAN;NP_071436.1 "A25T,D187E,I191V,I240T,L7P,P182S,R232W,R269W,S280L,V43I" "0,0,0,0,0,0,0,0,0,0" 64115 10634 sw10359;dbsnp11471 SFR19_HUMAN;NP_067051.2 "A1061T,A153S,A98S,E271D,G182R,K1231M,K1231R,M1146T,R118W,R18Q,R321C,R321S,R59Q,T1178N,T156M,T895A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58506 1143 sw1035;dbsnp5105 RF1M_HUMAN;NP_004285.2 "A114V,E134Q,E439K,G246S,I407V,L324V,L441H,N2S,R241G,S427A,T228I" "0,0,0,0,0,0,0,0,0,0,0" 9617 7663 sw10360;dbsnp10809 PKHG2_HUMAN;NP_073746.2 "A1302T,A255V,A319T,A770T,D795N,E734K,G135S,G136R,G332V,I622V,L969V,N395S,P1329A,P453R,P967L,Q1368R,R1293W,R47Q,R647C,R647H,R762C,R992K,S890F,T540I,V1016I,V142L,V614I,V932I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64857 1006 sw10361;sws1153;dbsnp11817 ZN442_HUMAN;NP_110451.1 "A385V,G122R,G422R,G568R,H315D,H389R,H562R,H600R,I93V,K51E,M396T,N107D,N20Y,P110T,P84L,R100C,R204C,R225C,R443C,R449Q,R89G,S446R,T539S,Y237C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79973 4664 sw10363;dbsnp6103 CTSRB_HUMAN;NP_079040.2 "A281E,F318Y,G437S,K927N,N618S,P866L,P866R,R709Q,S3L,S566N,S580C,T250M,T544A,V184M,V248A,Y459C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79820 1672 sw10364 CA135_HUMAN K82T 0 79000 9498 sw10365;dbsnp521 F190B_HUMAN;NP_061872.2 "A746T,C755Y,E707A,G639R,N167S,N84S,P31S,P821S,Q447R,Q678R,R275W,S625T,S819P,T239I,T829M,V569M,W786L,Y288C,Y530C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54462 3010 sw10366;dbsnp16458 SYNG1_HUMAN;NP_079169.1 "A55D,D149N,G54R,L216S,R86H,S17N,V98M" "0,0,0,0,0,0,0" 79953 11750 sw10367;spmut1311;dbsnp8057;dbsnp8058;dbsnp8059 NAA60_HUMAN;NP_001077070.1;NP_079121.1;NP_001077069.1 "H218Q,N88S" "0,0" 79903 12078 sw10368;dbsnp29566 DIA1R_HUMAN;NP_789789.2 "A133E,A25G,D317V,P162L,R109S,R128K,R146Q,R159L,W16C" "0,0,0,0,0,0,0,0,0" 79742 7895 sw10369;dbsnp5723 CN102_HUMAN;NP_060440.2 "A2E,A540V,C32F,C656Y,E928K,F931L,H281R,I1038V,I553S,K729Q,K801R,L26V,L644F,N1118S,N270Y,P55L,Q1087H,R1081C,R323Q,R902C,R902H,S30N,T267A,T37M,T98R,V507L,V507M,V832L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55051 1516 sw1036;dbsnp13722 ITA10_HUMAN;NP_003628.2 "A702T,E1089D,E1093K,H606L,H996Y,L1110P,L532F,M510R,P543S,Q478H,Q561E,R1105H,R1117Q,R1161G,R144H,R238W,R299C,R381Q,R521C,R668W,R691H,R725Q,R751Q,R808T,R822Q,R875W,S841R,T1083M,T224M,T708I,T7I,V974I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8515 1508 sw10370;spmut1519;dbsnp29023 PGES2_HUMAN;NP_079348.1 "G206A,K269N,M192T,R298H,S159L,T203S,V277L,Y308C" "0,0,0,0,0,0,0,0" 80142 9047 sw10371;dbsnp23413 PHAX_HUMAN;NP_115553.2 "A266V,D128N,D346G,D64N,K184E,M139I,N295S,P91S,R82C,S164Y" "0,0,0,0,0,0,0,0,0,0" 51808 8707 sw10372;spmut471;dbsnp14443 DCR1B_HUMAN;NP_073747.1 "D462N,H61D,H61Y,N510Y,R283C,R283H,R300W,R46L" "0,0,0,0,0,0,0,0" 64858 6101 sw10373;dbsnp20622;hgmd0613_1658 ACAD9_HUMAN;NP_054768.2 "A326T,E160A,K330Q,L180F,L341S,R469W,R477Q,R518C,V310I,V601M" "0,0,0,0,0,1,0,0,0,0" 28976 4896 sw10374;dbsnp21191 NT5D2_HUMAN;NP_075059.1 "A58T,E10G,H100R,R65C,S397L,S91R" "0,0,0,0,0,0" 64943 5745 sw10375;dbsnp5862 MT21D_HUMAN;NP_078834.2 "A63D,S59P,Y188D" "0,0,0" 79609 12342 sw10376;dbsnp12876 YYAP1_HUMAN;NP_620829.1 N13S 0 55249 321 sw10377;dbsnp26448 PKRI1_HUMAN;NP_078929.1 "D106Y,E114K,K102R,L33V,S7A" "0,0,0,0,0" 79706 13287 sw10378;dbsnp1544 TTC12_HUMAN;NP_060338.3 "K110R,L39P,L613V,M468L,M48V,M73L,N530H,N62S,N637K,R546W,S545R,T124S,V435I,V563A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54970 4038 sw10379;dbsnp27920 ZMAT4_HUMAN;NP_078921.1 "L106M,R196C,T201A" "0,0,0" 79698 12343 sw10380 CSR2B_HUMAN "A738S,P214L,P600R,R442T,V400G" "0,0,0,0,0" 57325 3341 sw10381;dbsnp28776 CAAP1_HUMAN;NP_079104.3 "A230T,E315K,L185R,N282S,V233M,V64A" "0,0,0,0,0,0" 79886 9394 sw10382;dbsnp9016 NOL11_HUMAN;NP_056277.2 "A656V,F359L,H463R,I170L,K419R,K538N,L265V,L516F,P568S,R260Q,S11F,S375P,V115A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 25926 3886 sw10383;dbsnp28389 DDX31_HUMAN;NP_073616.6 "A128V,A605T,A675S,A800T,C584S,E153K,E33K,E462K,E521K,G397D,G84E,I799V,K482R,K504N,N152K,P683S,R354C,R354H,R493K,R687Q,R689Q,R788C,R843Q,S19T,S779N,T486A,V312M,V768L,V768M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64794 2896 sw10384;dbsnp4310 MET7A_HUMAN;NP_054752.3 "A134T,A194T" "0,0" 25840 12037 sw10385;dbsnp3859 MANS1_HUMAN;NP_060520.2 "A355V,D165N,L141V,N375Y,R22K,R413H,R87Q,S239L,S342P,V55I,Y198C" "0,0,0,0,0,0,0,0,0,0,0" 54682 7933 sw10386;sws1155;dbsnp238 MMRN2_HUMAN;NP_079032.2 "A208G,E219K,G182A,G359R,G49S,H731D,K64R,L446V,M385T,R270H,S147R,S28I,S831R,T126M,T357M,T441M,T626M,V910L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79812 2351 sw10387;dbsnp19243 CQ10B_HUMAN;NP_079423.1 "L48F,N225S,T163S" "0,0,0" 80219 11974 sw10388;dbsnp23786 BRD9_HUMAN;NP_076413.3 "A170T,A266T,A389T,A556T,D308H,D345E,H58Y,S424N,T199M,V397A" "0,0,0,0,0,0,0,0,0,0" 65980 5173 sw10389;dbsnp1010;hgmd0613_1834 CNNM2_HUMAN;NP_060119.3 "K102R,P744S,R38Q,T568I" "0,0,0,1" 54805 2738 sw1038;spmut1088;dbsnp5802 KS6A5_HUMAN;NP_004746.2 "A16S,D554N,D645E,D787N,E151D,E260G,H190R,H485N,P574L,Y423F,Y599C" "0,0,0,0,0,0,0,0,0,0,0" 9252 3193 sw10390;dbsnp18931;dbsnp18932 F176A_HUMAN;NP_001128504.1;NP_115557.1 "D62N,R150H,S78N" "0,0,0" 84141 13883 sw10391;sws1156;spmut574;dbsnp21101 ECT2_HUMAN;NP_001245244.1 "K319E,R194M,R402H,S15T,S531N,T27I,T636M,V79I,Y256C,Y330C" "0,0,0,0,0,0,0,0,0,0" 1894 2530 sw10392;dbsnp13106 TRI45_HUMAN;NP_079464.2 "C375Y,G433D,G436E,G517R,H156Y,I189N,K26E,M105L,M496T,Q458H,R292P,R292Q,R353Q,R413Q,R413W,S339P,V479M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80263 5410 sw10393;dbsnp28677 IPPK_HUMAN;NP_073592.1 "E446K,H489R,K464R,L376F,L440V,Q420E,R130W,R277W,V257M,V78I" "0,0,0,0,0,0,0,0,0,0" 64768 6825 sw10395;dbsnp23067 ZDH11_HUMAN;NP_079062.1 "A175V,A303D,A305T,A67V,C348S,C363F,D114N,G377R,I187T,I187V,L221R,L325I,L325S,M181L,M238K,M403I,N275T,P25A,Q8R,R203C,R276C,R27H,R341Q,R372H,S54L,T339K,V11F,V193I,V228L,V298F,V373I,V85I,Y195C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79844 8342 sw10396;sws1157;dbsnp5626 VRTN_HUMAN;NP_060698.2 "A393V,A633V,A98T,D490E,E68A,G253S,G568W,K309E,L53F,N485D,P215S,R344H,R510G,R72Q,T228P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55237 4061 sw10397;dbsnp18534;dbsnp18535 ANKZ1_HUMAN;NP_001035869.1;NP_060559.2 "A149V,E147K,L415V,P676L,R297C,R569W,R585Q,R59S,S137T,T457I,Y572H" "0,0,0,0,0,0,0,0,0,0,0" 55139 3822 sw10398;dbsnp18706 GORS2_HUMAN;NP_056345.3 "G430S,P369L,Q235H,S432F,T415M" "0,0,0,0,0" 26003 7556 sw10399;dbsnp6793 ZWILC_HUMAN;NP_060445.3 "C172Y,D277E,D333N,D333Y,E94K,F203L,H123Y,I535M,K337R,L17F,Q529E,S179F,S344G,T197A,T217R,T219I,W546G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55055 5258 sw103;dbsnp22988 BDP1_HUMAN;NP_060899.2 "A125V,A1685P,D38E,D975V,E2056K,E2610K,F1244I,F1557L,G1122R,G1180S,G1690R,G526S,I1264M,I2013L,I726L,K1469E,K2321R,K722E,N2555S,N26S,P1669Q,Q1676E,R1022K,R1850W,R2599Q,R757C,S1071T,S213L,T2580A,V1240L,V1347M,V778M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55814 207 sw10401;dbsnp18772 LY10L_HUMAN;NP_612411.4 "A348T,K326R,M88T,N231S,P181L,P377S,R358H,R366Q,R81W,T225M" "0,0,0,0,0,0,0,0,0,0" 93349 2786 sw10403;dbsnp10420 PPIP2_HUMAN;NP_077748.3 "N322D,N322K,N322S,R75W,Y267C" "0,0,0,0,0" 9050 10042 sw10404;dbsnp203 CJ068_HUMAN;NP_078964.2 "D334N,G159E,G372E,G388A,H102Y,I279T,I39V,I518L,K186E,K222E,K34E,L109R,M510T,N503K,R198C,R198H,R326Q,T333A,V229E,V607I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79741 4818 sw10405;dbsnp6412 WDR76_HUMAN;NP_079184.2 "A80T,A8T,K104E,K165T,K205N,L535F,M65I,P37L,R190H,S153A,S157L,S614G" "0,0,0,0,0,0,0,0,0,0,0,0" 79968 4837 sw10406;dbsnp5742;dbsnp5743;dbsnp5744 CN093_HUMAN;NP_001124178.1;NP_001124180.1;NP_068763.2 "A190V,A193V,D146N,D70N,G34A,N435K,Q178L,R115Q,R160W" "0,0,0,0,0,0,0,0,0" 60686 6017 sw10407;dbsnp20519 ARP8_HUMAN;NP_075050.3 "A427S,H183Q,N181S,T56I,V74I,Y319D" "0,0,0,0,0,0" 93973 4857 sw10408;dbsnp514 SYP2L_HUMAN;NP_001107605.1 "A339V,A364V,E382D,G2R,G2S,G733E,H66L,K641N,P157L,P508H,P650H,P707L,R757G,S745L,S833Y" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79933 2197 sw10409;dbsnp19064 MARH7_HUMAN;NP_073737.1 "A323T,A491P,D498N,E142G,G379S,M158V,M191V,N197S,N256S,N363S,R327H,R403P,S247N,T100S,T193I,T238M,T463I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64844 4045 sw10410;dbsnp25363 CF211_HUMAN;NP_078849.1 "A245V,A317T,A395T,E227K,G150E,H161P,H393Y,I264V,K73N,M226T,P77R,S154A,Y353H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79624 7749 sw10412;dbsnp12966 LRC40_HUMAN;NP_060238.3 "A35S,A8V,E80K,F504S,H287R,I430V,I500V,I584M,L248F,M586K,N203S,P105A,P388S,P52L,Q53P,R366Q,R599L,T234I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55631 5112 sw10413;dbsnp28598 RMI1_HUMAN;NP_079221.2 "A483V,D424G,H19Y,I530V,K334E,N455S,Q457E,T333A,V605L,Y100H" "0,0,0,0,0,0,0,0,0,0" 80010 4848 sw10415;dbsnp23698 SFXN1_HUMAN;NP_073591.2 "I22T,N26S,P266S,S46N,T30A,V130I" "0,0,0,0,0,0" 94081 10277 sw10416;dbsnp2748 ZN408_HUMAN;NP_079017.1 "A372T,D248G,D42E,E230G,F686L,K12R,L153F,L67V,R337P,V194E" "0,0,0,0,0,0,0,0,0,0" 79797 3878 sw10418;dbsnp16258 ARP5_HUMAN;NP_079131.3 "D482N,E392A,I449T,I461L,I483V,K481E,M148I,P580L,R298L,R518Q" "0,0,0,0,0,0,0,0,0,0" 79913 5056 sw10419;dbsnp18962;hgmd0613_2042 RM44_HUMAN;NP_075066.1 "A37S,G12R,L16R,N82D,R105C,R14C,T138I,T264S" "0,0,0,0,0,0,0,0" 65080 10097 sw1041;dbsnp12006 PGRP1_HUMAN;NP_005082.1 "A77D,D137Y,H120Q,N164T,Q143L,R3H,V34G" "0,0,0,0,0,0,0" 8993 13051 sw10421;dbsnp14052 I20L2_HUMAN;NP_112242.1 "N130S,Q157H,R177W,T64S" "0,0,0,0" 81875 9589 sw10422;dbsnp3854 KANL2_HUMAN;NP_060292.3 "N313S,P445T,R465Q" "0,0,0" 54934 6812 sw10425;dbsnp3821 NANOG_HUMAN;NP_079141.2 "H47N,K20R,K82N,M25T,Q253H,Q39K,S176R" "0,0,0,0,0,0,0" 79923 10759 sw10427;dbsnp13108 JMJD4_HUMAN;NP_075383.2 "A11V,A391T,A461V,D195N,D65E,E423K,F342L,G16C,I169R,I238F,M156L,N332S,P279Q,R341C,T157I,V196I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65094 7349 sw10428;dbsnp13753 RPF1_HUMAN;NP_079341.2 "A45P,A4V,G12R,G5E,H335R,M223I,R227H,S9G,T114N,V166I" "0,0,0,0,0,0,0,0,0,0" 80135 9690 sw10429;dbsnp13926 GPN2_HUMAN;NP_060536.3 "A132T,A278T,D282N,E223K,N222D,Q227R,R250Q,R264G" "0,0,0,0,0,0,0,0" 54707 10653 sw10430;dbsnp18304 RPA2_HUMAN;NP_061887.2 "D789G,M562V,N371H,P3S,P546S,R149H,R579H,S295L,T878A,V1130M,V867A" "0,0,0,0,0,0,0,0,0,0,0" 84172 1601 sw10431;dbsnp9149 KT3K_HUMAN;NP_078895.2 "A57V,G265C,K182R,K72M,M251T,Q161R,T149M,V223I" "0,0,0,0,0,0,0,0" 79672 10671 sw10432 TBC17_HUMAN D84G 0 79735 4608 sw10433;dbsnp301 CAHM2_HUMAN;NP_057000.2 "A221V,A96T,L263V,M1I,P211L,V136G,V194M" "0,0,0,0,0,0,0" 51063 10327 sw10434;dbsnp4941 SYCM_HUMAN;NP_078813.1 "D196N,E440K,G216E,I180F,I180M,M381V,N192D,P444L,Q555P,R101Q,R378C,R513Q,S544R,T188M,V390I,V497A,V497I,V82I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79587 5624 sw10435;dbsnp10810 CERS4_HUMAN;NP_078828.2 "A353V,A366T,A42V,A82T,F222S,G301S,K207T,L279F,M255V,R119Q,R28Q,R31C,R31S,R379P,R379Q,V317M,Y33H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79603 8708 sw10436;dbsnp20253 CCD48_HUMAN;NP_079044.2 "A434V,E382K,E554D,G249R,G473S,R276S,R528Q,T6A" "0,0,0,0,0,0,0,0" 79825 5159 sw10437;dbsnp9014 RSAD1_HUMAN;NP_060816.1 "A119T,A12E,D249H,E354Q,I155M,L126S,R317W,S32N,V299I,Y257S" "0,0,0,0,0,0,0,0,0,0" 55316 7728 sw10439;dbsnp22958 WDR41_HUMAN;NP_060738.2 "D112G,D323N,G243R,G365V,G439R,G61D,H322R,H43R,N261S,N368K,Q386R,R260C,R260H,R313C,R313H,R347H,R441H,R47Q,T204R,V126L,V329I,Y456H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55255 7419 sw10440;dbsnp11834 ZN556_HUMAN;NP_079243.1 "A353T,A353V,C236Y,E428K,G255R,H221R,P286L,R122C,R137C,R146L,R146W,R214H,S352P,T157I,T192M,T374M,V348M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80032 7469 sw10441;dbsnp27912 COE2_HUMAN;NP_073150.2 "G559S,P548L" "0,0" 64641 5164 sw10442 MLXIP_HUMAN "E396G,V539L" "0,0" 22877 2505 sw10443;dbsnp20354;dbsnp20355 KIF9_HUMAN;NP_001128350.1;NP_878905.2 "A461V,D63N,G96A,I395V,I41T,K492R,L252M,L566F,N618S,Q187P,R379H,R547W,R638W,S304T,S414G,T164I,T200I,V525G,V754L,V78I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64147 3287 sw10444 LPHN3_HUMAN "A247S,T770M" "0,0" 23284 864 sw10446;dbsnp6475 LMA1L_HUMAN;NP_068591.2 "A407V,G212D,L437F,P2L,R105Q,R199C,R31H,R456G,R516M,R517S,T207P,V481M" "0,0,0,0,0,0,0,0,0,0,0,0" 79748 6194 sw10447;dbsnp2286;hgmd0613_2374 SIAE_HUMAN;NP_733746.1 "A171V,A3G,A467V,C196F,C266G,D370H,F404S,G212R,G64S,H447R,H472Q,K400N,K71R,M456I,M89V,N33S,Q161K,Q309P,Q462R,R201C,R230W,R314H,R393H,R479C,R62H,T286M,T312M,Y31C,Y349C" "0,0,0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,1,0,0,1,1,1,1,0,0,1,0,1" 54414 6241 sw10448;spmut1736;dbsnp571;dbsnp572 RENT2_HUMAN;NP_056357.1;NP_542166.1 "D218E,E116A,E521Q,E90K,H844Q,N496S" "0,0,0,0,0,0" 26019 1223 sw10449;dbsnp25184 XPO5_HUMAN;NP_065801.1 "D530G,G81S,K610N,K981R,M1115T,Q1149H,S241N,V552A,V552F" "0,0,0,0,0,0,0,0,0" 57510 1408 sw10450;spmut2185 TNR27_HUMAN T129A 0 60401 10459 sw10451;sws1160;spmut387;dbsnp14308 CLSPN_HUMAN;NP_071394.2 "A1146S,A578T,C207W,D468Y,D64A,E648G,E85K,F610I,G364C,G3A,G627W,G6D,G805R,H307R,H360Y,H454R,I38T,K1043T,M1106V,M1186T,N14S,N525S,P453S,P832L,P892T,R1115H,R1224H,R298Q,R59S,S1280L,S755R,S7F,T368I,T782M,V1060E,V198I,V557L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63967 1084 sw10452;dbsnp18154 UD17_HUMAN;NP_061950.2 "A508P,D118Y,E139D,E460D,G115S,G305E,I156T,I172V,L471M,M201T,M212V,N129K,N129S,N276K,P238S,P361L,P448L,R131K,R131Q,R400H,R439C,R88W,S485C,S485F,V92I,W208R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54577 6067 sw10453;dbsnp18151 UD110_HUMAN;NP_061948.1 "A508P,C220R,D216E,E139K,E460D,E54D,G21A,G305E,H95D,L244I,L471M,M110L,M59I,P238L,P361L,P448L,Q97R,R400H,R439C,S114N,S141C,S485C,S485F,S69L,T202I,T240M,T255M,V167F,V212M,V58D,V74G,V92D,Y189C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54575 6067 sw10454;dbsnp18148 UD18_HUMAN;NP_061949.3 "A144V,A173G,A173V,A231T,A508P,C277Y,D95H,E216D,E460D,F109L,G154A,G196V,G305E,H53N,K132R,L105M,L110M,L214S,L228I,L471M,M212L,M212V,N114S,N118D,N209D,P361L,P448L,R208W,R400H,R439C,S15C,S485C,S485F,T202A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54576 6067 sw10455;dbsnp20667 MAGF1_HUMAN;NP_071432.2 "A66S,D159E,E236A,E236Q,K93R,L62S,L67V,M252L,N233S,R166G" "0,0,0,0,0,0,0,0,0,0" 64110 10713 sw10457;spmut382;dbsnp23830 CLK4_HUMAN;NP_065717.1 "D13G,I363V,L352F,M266L,R107C,R24C,R24H" "0,0,0,0,0,0,0" 57396 4713 sw10458;dbsnp13165 PRD16_HUMAN;NP_071397.3 "D236N,E1266G,E282K,G836S,P633L,P784S,R288Q,R873Q,S533P,T570K,T570M,V998I" "0,0,0,0,0,0,0,0,0,0,0,0" 63976 1212 sw10459 MYG1_HUMAN T349I 0 60314 9075 sw10460;dbsnp11271 B2L12_HUMAN;NP_619580.1 "F174L,G47V,P122S,P152S,P267R,P326A,P46A,R133C,S260F" "0,0,0,0,0,0,0,0,0" 83596 10043 sw10461;dbsnp5750 KCNKD_HUMAN;NP_071337.2 "A249T,C323F,G305R,G331R,G389A,G389E,I156V,I219F,I219V,L132F,M215I,N143S,R163W,R83Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56659 8428 sw10462 PKHA2_HUMAN I186N 0 59339 8042 sw10463;spmut1553;dbsnp106;dbsnp107 PKHA1_HUMAN;NP_001001974.1;NP_067635.2 "D395E,H311Y,N95S,P303S,P363T,R130C,S177N,T320A" "0,0,0,0,0,0,0,0" 59338 8042 sw10464;dbsnp18539 ILRL2_HUMAN;NP_003845.2 "A471T,A510V,C146G,G157S,H293R,I229M,I237T,I355T,L550P,P538S,R291W,R557H,S186L,S351F,V175I,V352I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8808 5488 sw10465;dbsnp9381 SEBOX_HUMAN;NP_001074306.2 "L207S,R16W" "0,0" 645832 12612 sw10466;dbsnp9567 RISC_HUMAN;NP_067639.1 "C295Y,E410G,I260T,L3V,N24K,N64K,V241I" "0,0,0,0,0,0,0" 59342 7557 sw10467;dbsnp25979 CP343_HUMAN;NP_476436.1 "G438E,G502R,G56C,G56R,G69R,H247Y,I381T,K378R,L132F,L293M,M111V,M145I,M275I,P340A,P80R,Q484R,R130Q,R418S,T27A,T374M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64816 6065 sw10468;sws1161 SP110_HUMAN "E267G,L425S" "0,0" 3431 3943 sw10469;dbsnp4298 NET4_HUMAN;NP_067052.2 "A213T,A350T,G25V,G442R,G453V,H113P,R354H,R73G,R73W,T340N,Y205H" "0,0,0,0,0,0,0,0,0,0,0" 59277 4819 sw1046;spmut2300;dbsnp2027 UBP2_HUMAN;NP_004196.4 "D84N,G112E,H571Y,M605I,N383I,N383S,P230L,P53L,R154W,R174Q,R204H,R289Q,R76Q,T239M,Y544F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9099 5073 sw10470;dbsnp6578 ELL3_HUMAN;NP_079441.1 "D350N,H128Q,P238L,P264L,P285R,Q11E,R109S,R35P,V125I,W140R" "0,0,0,0,0,0,0,0,0,0" 80237 8648 sw10471;dbsnp2336 PIDD_HUMAN;NP_665893.2 "A119S,A172T,D658E,G120V,I479V,L244P,P372S,P403L,P729S,P8L,Q146K,Q331R,R406W,R549H,R551C,R652W,R674H,R68C,R870C,S161F,S471L,S527I,V869L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55367 2562 sw10474;dbsnp2323 FOH1B_HUMAN;NP_710163.1 "A84E,D419G,G240S,N151K,N281H,N281S,Q135E,R155K,R70Q,S409N,T170I,T230A,V156A,V156I,V17A,V411M,W126G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219595 3608 sw10475 CDHR5_HUMAN "C702S,Q165P" "0,0" 53841 2930 sw10476;dbsnp17510 PATZ1_HUMAN;NP_055138.2 "D674E,E685D,F613L,G686E,I663S,P342L" "0,0,0,0,0,0" 23598 4191 sw10477;dbsnp7608;dbsnp7609;hgmd0613_1996 IL21R_HUMAN;NP_851564.1;NP_068570.1 "A202V,A7T,G345S,G484S,R191C,R275Q,S318R,T46M" "0,0,0,0,0,0,0,0" 50615 5689 sw10478;dbsnp6372;dbsnp6373;dbsnp6374 ST20_HUMAN;NP_001094349.1;NP_001186686.1;NP_001094350.1 "C59R,P57L,Y78F" "0,0,0" 400410 14831 sw1047;dbsnp409 NPM3_HUMAN;NP_008924.1 "A3T,D145E,E83K,N80I,S16G,S16N" "0,0,0,0,0,0" 10360 13391 sw10481;dbsnp13027 LY9_HUMAN;NP_002339.2 "E292Q,E569K,E569Q,M602V,N413I,N413S,P196T,P83L,R275Q,R275W,R91H,T266P,T73I,V468I,Y357F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4063 4535 sw10482;dbsnp7803 DEFM_HUMAN;NP_071736.1 "R3Q,W11R,Y237C" "0,0,0" 64146 12059 sw10483;dbsnp29596 BEX1_HUMAN;NP_060946.3 "A17V,A35V,A40V,M14V,M66I,S11N,S13I,V9L" "0,0,0,0,0,0,0,0" 55859 13733 sw10484;spmut1244;dbsnp11587 MKNK2_HUMAN;NP_951009.1 "A429S,D32N,D73N,E416K,G422S,Q10K,R175Q,R428Q" "0,0,0,0,0,0,0,0" 2872 7301 sw10486;dbsnp11119;dbsnp11120 CP4FB_HUMAN;NP_067010.3;NP_001122404.1 "A15V,C276R,D284N,D446N,G470R,H488Q,L48H,L512I,P396L,R146C,R148H,R180C,R180H,R275H,R33C,R365C,R444C,R490C,T152M,V25A,Y39H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57834 6107 sw10487;dbsnp11051 UBP29_HUMAN;NP_065954.1 "A639V,A895T,C489R,D403V,D790E,E586K,E809D,G166D,I27T,K418R,L758V,L784P,M883L,N368S,N457I,N721S,Q379E,Q615R,Q733H,R899Q,S113Y,S671R,S789Y,V595I,Y202C,Y856C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57663 2484 sw10488;dbsnp687 AS3MT_HUMAN;NP_065733.2 "G297D,M287T,R173W,S89R,T306I" "0,0,0,0,0" 57412 9097 sw10489;sws1162;dbsnp18114 TENS1_HUMAN;NP_072174.3 "A1375T,A1416T,A741T,A853V,A934T,D419E,D441E,E1027V,E869K,G1732S,G320R,I311M,K1688N,L56R,N102H,N1722S,N806H,P1138L,P1202S,P1329L,P1447L,P660H,P739L,P780S,P913L,Q799H,R1004W,R1116C,R1116H,R1378W,R260P,R466C,R859W,T1065N,T1105M,T1173M,T1701M,T528I,T688I,T68M,T6A,V1168G,V1230I,V1604I,V25I,V25L,W1197R,Y1254C,Y1323C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7145 603 sw1048;dbsnp27835 LYPA1_HUMAN;NP_006321.1 "I114M,I49V,P153S,R149Q,V67M" "0,0,0,0,0" 10434 12317 sw10490;dbsnp20573 LRTM1_HUMAN;NP_065729.1 "E265Q,E43K,G252S,G264R,G92A,L117V,P138L,P233R,P279L,P324A,R266L,R283C,R283H,V294I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57408 9794 sw10491;spmut1370;dbsnp7647 NMRL1_HUMAN;NP_065728.1 "A168G,F163I,G11R,K172R,K42T,N80I,P252L,R22H,R255Q,T23I,V20M,W288C" "0,0,0,0,0,0,0,0,0,0,0,0" 57407 10882 sw10492;dbsnp3289 VEZA_HUMAN;NP_060069.3 "G762D,Q461K,R372C,S668A,T162A,V496I,V612M" "0,0,0,0,0,0,0" 55591 3373 sw10493 GGA2B_HUMAN A110V 0 - 14030 sw10494;dbsnp9095 S38AA_HUMAN;NP_001033073.1 "A1112V,A831G,K927E,P1032L,R801H" "0,0,0,0,0" 124565 1659 sw10495;sws1163;dbsnp10398 CAD20_HUMAN;NP_114097.2 "A506T,D111N,D486N,L122I,M642T,N329S,P328H,P391A,P391L,Q371R,Q52R,V615L" "0,0,0,0,0,0,0,0,0,0,0,0" 28316 3205 sw10497;dbsnp9152;dbsnp9153 Z286A_HUMAN;NP_065703.1;NP_001124314.1 "A65E,K104N,K107Q,P87S,P98L,R144Q,R36C,T27R,T38M,T489S,Y90H" "0,0,0,0,0,0,0,0,0,0,0" 57335 6264 sw10498;dbsnp29485 BARX1_HUMAN;NP_067545.3 "A48T,I222V,T211I" "0,0,0" 56033 11824 sw10499;dbsnp20640 POPD2_HUMAN;NP_071418.2 "A3T,R164W,R98H,T361M,V29I" "0,0,0,0,0" 64091 9324 sw1049;dbsnp12981 LFTY1_HUMAN;NP_066277.1 "D322A,E259K,E267D,E279K,G312R,L92S,P256S,R142Q,R298Q,R33Q,V57M,V62M" "0,0,0,0,0,0,0,0,0,0,0,0" 10637 9273 sw104;dbsnp29027 F221B_HUMAN;NP_001012448.2 "A364V,H34R,K41E,R331H,R388S,V292I" "0,0,0,0,0,0" 392307 8538 sw10500;dbsnp25218 POPD3_HUMAN;NP_071756.2 "M90I,R106Q,S132N" "0,0,0" 64208 11073 sw10501;dbsnp25524 SACA1_HUMAN;NP_112222.1 "L179S,L237S,R146H" "0,0,0" 81833 11007 sw10502;dbsnp13511 ELTD1_HUMAN;NP_071442.2 "A620G,F260L,G63E,H599Q,N343K,V106F,V300L" "0,0,0,0,0,0,0" 64123 4170 sw10504;sws1165;dbsnp13117 LGR6_HUMAN;NP_001017403.1 "A131T,A391V,A516S,A570T,A770T,A845T,G326D,G563S,G955S,L878V,M347I,N267K,P920T,Q666R,R165C,R337H,R840W,R887Q,R887W,S682F,V586M,V592A,V775M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 59352 2251 sw10505;spmut1376;dbsnp24945 NOX3_HUMAN;NP_056533.1 "A198T,A407T,P274S,Q345K,S18P,T171K,T30M,V212I,V257M" "0,0,0,0,0,0,0,0,0" 50508 5543 sw10506;sws1166;spmut1916;dbsnp16638 SGK2_HUMAN;NP_057360.2 "H349Y,Q297P,R187Q,S12T,T6I,V157L,Y121C" "0,0,0,0,0,0,0" 10110 6199 sw10507;dbsnp6706 ARNT2_HUMAN;NP_055677.3 "G306S,G679S,Q569H,V450A,W410R" "0,0,0,0,0" 9915 3294 sw10509;spmut24 ABC3G_HUMAN "H186R,Q275E,R256H" "0,0,0" 60489 8915 sw1050;dbsnp24437 PRDM1_HUMAN;NP_001189.2 "A408P,A427T,D203E,E743K,G74S,G771D,I117M,I271V,K188E,L450F,P822T,R286P,S354N,T524R,Y381H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 639 3056 sw10512;dbsnp3266 LFG4_HUMAN;NP_057140.2 "A2V,I88T" "0,0" 51643 12165 sw10514 EMAL4_HUMAN "I382V,K283E" "0,0" 27436 2179 sw10515;dbsnp8967 RMTL1_HUMAN;NP_060616.1 "A287S,A8S,E326Q,E64G,G45E,I185V,M143I,N267S,P350S,P7S,V238M,V339D,V339I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55178 8154 sw10516 GLOD4_HUMAN M282I 0 51031 10584 sw10517;dbsnp13340 GPBL1_HUMAN;NP_067652.1 "A289S,D413G,F54L,G287D,H32L,I140M,K128N,K416N,L329V,N56S,P186L,P192S,R127W,R439H,S440N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60313 7131 sw10518;dbsnp9228 CBX8_HUMAN;NP_065700.1 "A282D,E217K,G317V,N303S,N357T,P208L,P235A,R178Q" "0,0,0,0,0,0,0,0" 57332 8821 sw10519;sws1168;dbsnp7923 WFDC1_HUMAN;NP_067020.2 "A28T,G5S,K217R,L196V,N207Y,R17W,R184H,R190G,R190Q,V118G,V170M,V181I,V6M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 58189 12533 sw1051;spmut1732;dbsnp16117 REM1_HUMAN;NP_054731.2 "E208Q,H28P,H28R,I177M,L108P,P59A,R16Q,R45W,S279R" "0,0,0,0,0,0,0,0,0" 28954 10686 sw10520;dbsnp16186 NCKX3_HUMAN;NP_065740.2 "A79V,G271S,G273R,G598S,L249V,L49P,R399Q,R82W,S217C,V168I,V276I,V381M,V55I,V585I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57419 4653 sw10521;dbsnp20658 SENP2_HUMAN;NP_067640.2 "K224T,K271E,N238D,P573R,R341G,T301K" "0,0,0,0,0,0" 59343 5285 sw10523;spmut1296;dbsnp1728 MUC5B_HUMAN;NP_002449.2 "A1453T,A1536T,A1733V,A1736T,A2025T,A2027T,A2061G,A2061V,A2102P,A2521T,A286T,A3004T,A3048T,A3048V,A3147G,A3239P,A3248T,A3778T,A3831S,A4375V,A4404G,A4567T,A4831T,A4867T,A5241T,D5554N,E1759K,E2438K,E2447A,E2995K,E34G,E5474D,F2513S,F3072S,F3770S,F4948L,F5516L,F650C,G1805S,G253S,G2615S,G2790V,G3178R,G3535A,G4047V,G412R,G4966S,G5623R,H2198Q,H3455Q,H5319Y,I3206T,I4642V,K3060T,K4317T,K4494R,L2238P,L3193P,L5181P,M2194T,M2425T,M4239T,N1859K,N2192T,N2410S,N2967S,N3667S,N4804S,P1310S,P1472L,P1889L,P2073L,P2333S,P2653L,P2830L,P3330L,P3866L,P3887L,P4273L,P4440L,P4895S,P67S,P978L,Q1370E,Q4179H,Q4950H,R1401H,R1403Q,R1783H,R2211P,R2345H,R2526I,R2834T,R3187Q,R3209K,R3288G,R3468P,R4106H,R4159H,R5187H,R51W,R5235Q,R5462H,R5517H,R619W,S1839R,S1883G,S2760P,S3061P,S3198T,S3500G,S4017P,S4194T,S4318P,S4896I,S4897L,S5196T,T1360M,T1762M,T1894M,T1896R,T1923M,T1941S,T1971I,T2069M,T2506I,T2559M,T2583M,T2599I,T2610S,T2626R,T3028K,T3028R,T3047N,T3131M,T3174M,T3177S,T3284A,T3393M,T3451M,T3702M,T3763I,T3816M,T4023M,T4084M,T4091M,T4091R,T4126M,T4268I,T4408M,T4544M,T4584I,T4706P,T4712M,T4761M,T4882A,V148I,V1980I,V2233G,V3053M,V3237F,V3490G,V3909I,V4323F,V4459M,V5436M,V824M,W2076R,W3333R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 727897 14 sw10524;sws1169 CAN10_HUMAN "A341V,A529S,I666V,R202H" "0,0,0,0" 11132 4353 sw10527;spmut1141;dbsnp21753 LST2_HUMAN;NP_066023.2 "A352V,A445V,A495V,A530V,A596T,A613V,D457E,D469H,E466K,P316A,P316S,P327L,P616T,R297G,R389C,S603N,S672L,S672P,S681L,T273M,T743M,V815M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57732 2678 sw10528;spmut1328;dbsnp16448 NCOA5_HUMAN;NP_066018.1 "A456P,D141V,E326G,M316T,P407L,R169H,R335H,T420A,Y107C" "0,0,0,0,0,0,0,0,0" 57727 5432 sw10529;sws1170;dbsnp10397;hgmd0613_1973 EPG5_HUMAN;NP_066015.2 "A1511V,A72T,E844D,I1131V,K182E,L51V,N1347H,Q1178E,Q589R,R1252Q,R1501Q,R1985Q,S1083L,S1864N,S267L,S424N,T1684M,V1058A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57724 218 sw10530;sws1171;dbsnp10342 ZN532_HUMAN;NP_060651.2 "A352T,E761D,G1241A,K1133E,K565R,L253V,L94P,P1257S,P308L,Q774E,R1037K,R1095H,S1251N,S167L,S538F,T191M,T994S,V640M,V762I,Y870H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55205 1165 sw10532;spmut1977;dbsnp26647 SMUF1_HUMAN;NP_065162.1 S466Y 0 57154 3549 sw10534;dbsnp10858;dbsnp10859;dbsnp10860 ZN160_HUMAN;NP_001096073.1;NP_150630.2;NP_942596.1 "G197S,K200E,K200N,K703R,N680D,P124A,P82R,Q159R,Q193R,R752Q,R7Q,R7W,S184N,T81M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90338 2403 sw10535;dbsnp18183 CWC22_HUMAN;NP_065994.1 "A656T,A656V,C274Y,D741V,D84N,I180S,Q110L,R742K,R794Q,S773R" "0,0,0,0,0,0,0,0,0,0" 57703 2571 sw10536;dbsnp24920 CPNE5_HUMAN;NP_065990.1 "D44N,N33S,R582H,T247N,T573S,V366I,V77M" "0,0,0,0,0,0,0" 57699 5229 sw10537;sws1173;dbsnp29979 MAGE1_HUMAN;NP_065983.1 "A216T,C125Y,E339D,G327E,G361S,P204S,P324L,P487L,S305C,T246N,V248M" "0,0,0,0,0,0,0,0,0,0,0" 57692 2298 sw10538;dbsnp25033 K1586_HUMAN;NP_065982.1 "F75L,I116S,I716V,N683S,Q339L,R71Q,R769W,S511F,V331M,V81M" "0,0,0,0,0,0,0,0,0,0" 57691 3307 sw10539;spmut2186;dbsnp9161 TNR6C_HUMAN;NP_061869.2 "D1307N,D494N,G1283S,H773Y,K921R,N511K,N528S,P663L,P820R,T1191S" "0,0,0,0,0,0,0,0,0,0" 57690 610 sw1053;dbsnp10557;dbsnp10558 SPB7_HUMAN;NP_003775.1;NP_001035237.1 "E331A,Q278R,R266Q,R315C,S217A,T268I" "0,0,0,0,0,0" 8710 8971 sw10541;dbsnp28893 ZBT26_HUMAN;NP_065975.1 "E69K,H236R" "0,0" 57684 7750 sw10542;dbsnp18929 ZDBF2_HUMAN;NP_065974.1 "A1090V,A1940T,D793E,E1380K,E1924A,K561E,M315I,M364I,N1173S,N173Y,P2002S,Q129L,Q129R,Q439R,R160K,R2075M,R2138C,R2224G,R402G,R687C,R687H,R703C,S42G,S868N,T1590A,T1590P,V846G,Y251C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57683 282 sw10544;dbsnp415;dbsnp416;hgmd0613_1969 GPAT1_HUMAN;NP_001231878.1;NP_065969.3 "A420V,D442G,E131G,I386T,I43V,K757R,L460V,P607S,Q140E,R108C,S4Y" "0,0,0,0,0,0,0,0,0,0,0" 57678 3043 sw10545 CL035_HUMAN "F954S,H106Q,I202V,I59V,L250P,M1479T,P147S,R309Q,S1208C,S346N,S352G,S433T,S518P,T1010K,T1338A,V1226I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55196 592 sw10546;dbsnp26180 K1549_HUMAN;NP_001158137.1 "A1731P,A1790T,A220P,A448P,A904T,D934N,E1191K,G1713R,G889V,H1900L,L566V,M901T,P1292L,P135H,P486A,P652L,Q1198R,Q176R,R1729K,R617G,S1511T,S647C,S849L,T216M,T357K,T364A,T796M,V1550I,V467I,V851G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57670 451 sw10547;dbsnp18136 E41L5_HUMAN;NP_065960.2 "A424V,A462T,D443Y,H334Y,H690P,L502F,L717V,M617K,N590S,Q215H,Q654L,R28C,S402N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57669 3759 sw10548;dbsnp3877 FBSL_HUMAN;NP_001136113.1 "L367P,L785M,P294L,P515L,P710S,R174W,R282H" "0,0,0,0,0,0,0" 57666 1919 sw10549;dbsnp2478 TPIP1_HUMAN;NP_071395.2 "A7V,P105S,R102G" "0,0,0" 63970 14343 sw1054;dbsnp29985 CTAG2_HUMAN;NP_066274.1 "A80T,G181R,M94V,N202K,P99A,Q6R,Q89E,R82G,V199I" "0,0,0,0,0,0,0,0,0" 30848 12741 sw10550;dbsnp7494 TMM8A_HUMAN;NP_067082.2 "A563V,A91P,C175W,G290E,G398D,G698S,I310V,M712T,P112L,P201S,P445L,P460A,P740T,P743L,R567W,R69C,S375L,S380L,T136A,T437A,V145I,V198M,V344L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58986 3437 sw10551;spmut800 GPVI_HUMAN "A249T,E237K,L317Q,N322H,P219S,R335G,R58C,S175N" "0,0,0,0,0,0,1,1" 51206 4906 sw10552;spmut1031;dbsnp6974 KC1G1_HUMAN;NP_071331.2 "R206K,V329I" "0,0" 53944 7494 sw10553;dbsnp19925 HHATL_HUMAN;NP_065758.3 "A417G,A79V,A87S,A9G,D384Y,I472T,M403V,N211S,N353S,P324T,R28W,R341C,R458G,R486C,R73H,S181I,Y352S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57467 6587 sw10554 RFRP_HUMAN "D42G,I32M,V121M" "0,0,0" 64111 13056 sw10555;spmut1491;dbsnp18780;hgmd0613_1818 PDE11_HUMAN;NP_058649.3 "A349T,A453P,A696T,I345M,I552T,M878V,N298S,R184Q,R52T,R804H,R867G,S124T,S489T,S570P,S919L,V820M,V885M,Y658C,Y727C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 50940 2416 sw10556 CP4FC_HUMAN "C188R,I90V,N76D,P13L,S522G,T16M" "0,0,0,0,0,0" 66002 6107 sw10557;sws1174;dbsnp18963 TF7L1_HUMAN;NP_112573.1 "A564T,G205S,G533R,M188V,P253S,P319L,Q404H,S160T,S561P,V311I,V583I" "0,0,0,0,0,0,0,0,0,0,0" 83439 5302 sw10558 E41LA_HUMAN V132I 0 64097 4206 sw10559;dbsnp11634 SYF1_HUMAN;NP_064581.2 "A702T,D206A,D264N,D430G,E303K,E447K,Q628K,R157C,R370H,R454Q,R514H,R838L,S729I,S8W,T706M,V126I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56949 2867 sw10560;sws1175;dbsnp2065 CD248_HUMAN;NP_065137.1 "A276V,A278D,A303V,A486T,H457R,L691I,P228L,P651S,Q529E,R721C,T115A,T115N,V178M,V484M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57124 3550 sw10561;dbsnp13064 CELR2_HUMAN;NP_001399.1 "A1849V,A2422G,A384S,D1579V,D1940G,D2175N,D2701E,E1065Q,G1692D,G1992R,G2805R,G2822R,H1267R,H585R,L1014H,L143F,L1465F,L17P,L1932V,N537S,P1850S,P2807A,Q126K,Q398R,R1066Q,R1331H,R1538Q,R161W,R2015K,R2191H,R2550Q,R2812W,R539C,R890Q,R91K,S1503Y,T2387A,T260M,T280I,T631M,T695M,V2287I,V2610A,V288A,V930M,Y1639H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1952 114 sw10562;dbsnp2629 DPOD4_HUMAN;NP_066996.3 "G26R,G59R,R39L,R39P,V87G" "0,0,0,0,0" 57804 14564 sw10563;dbsnp10989 ZN304_HUMAN;NP_065708.2 "A416T,A483D,C94R,D218N,K367E,L121P,M7T,N534S,R119H,R486H,S241G" "0,0,0,0,0,0,0,0,0,0,0" 57343 4025 sw10564;dbsnp16183 ZN334_HUMAN;NP_060572.3 "A394V,A85G,C214Y,E486G,E66A,G401R,H524R,N105D,N547S,P128A,P404A,R130K,R275C,R284Q,R509G,R619T,S362L,T444M,V101I,V127A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55713 4272 sw10565;dbsnp23380 SRA1_HUMAN;NP_001030312.2 "A55V,D113E,D113G,D113N,E106G,E108A,E108D,E112G,E99A,E99D,F103C,F103I,G150E,I179T,L115R,L115V,L37P,P100H,P100T,P104R,P104T,P117L,P230L,P73L,P73S,P89L,Q32E,R140H,R206G,R25G,S102R,S102T,S107A,S107C,T101K,T101S,V105G,V105L,V110G,V114G,V114M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10011 12200 sw10566;dbsnp24285 MRS2_HUMAN;NP_065713.1 "I46T,M1V,M407T,P35S,P412S,R443H,R61C" "0,0,0,0,0,0,0" 57380 7710 sw10567;dbsnp20437 RM47_HUMAN;NP_065142.2 "C10G,R213H,R222Q" "0,0,0" 57129 11915 sw10568;dbsnp24706 LYRM4_HUMAN;NP_065141.3 S11A 0 57128 14249 sw10570;spmut2009;dbsnp21958;hgmd0613_1819 SPCS_HUMAN;NP_058651.3 "A239T,A499G,A499V,A59G,D448E,E382K,K452N,R465Q,S307G,T426A,Y334C" "1,0,0,0,0,0,0,0,0,0,1" 51091 6641 sw10571;spmut1664;dbsnp11417 PTPRH_HUMAN;NP_002833.3 "A758D,D143N,D232N,D410N,E1012A,E102D,E200D,G153R,G191R,G270E,G359R,G72S,G757R,G831D,G951D,H348Y,H944Y,I1076V,K781N,K823E,L226P,L543F,N31K,N62T,P1048A,P608L,P870A,P870S,Q572K,R1038Q,R1038W,R1059P,R251G,R355G,R704W,R926W,T304R,T384A,T430A,T732M,T76I,T82I,V243I,V366M,V545I,V793G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5794 1674 sw10572;spmut1304;dbsnp22929 MYO10_HUMAN;NP_036466.2 "A1979T,A407V,A651E,D1285N,D1752Y,E273D,G1621S,H148Y,I1816T,K1571R,L1946S,M903K,M903T,Q236R,R1194C,R123W,R124C,R2049H,R324W,R700Q,R959Q,S1144L,S1520L,S1581C,S1663T,S2024T,T367A,V1451I,V1982I,V32I,V413L,Y279C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4651 398 sw10573;dbsnp4368 NDF4_HUMAN;NP_067014.2 "C193R,D188N,G215V,G64E,H223R,K68T,L232S,N262K,P284T,R133K,S287R,T17A" "0,0,0,0,0,0,0,0,0,0,0,0" 58158 10115 sw10574;dbsnp27911 JPH1_HUMAN;NP_065698.1 "A523P,A586T,D624H,G126A,G126E,K441R,S233W,S250F,S622R,T507M,V424I,V526I" "0,0,0,0,0,0,0,0,0,0,0,0" 56704 4104 sw10575;dbsnp16625 APMAP_HUMAN;NP_065392.1 "E393K,I108T,I65V,L163F,N160S,P406L,P76L,R120L,R134G,R282Q,R374W,V416I" "0,0,0,0,0,0,0,0,0,0,0,0" 57136 8260 sw10576 ENH1_HUMAN "F150L,V81L" "0,0" - 5354 sw10577;dbsnp17435;hgmd0613_1508 TRXR2_HUMAN;NP_006431.2 "A66S,E176Q,G384S,I370T,Q37L,R14L,R254C,S299R" "0,0,0,0,0,0,0,0" 10587 4598 sw10578;dbsnp14098 TUFT1_HUMAN;NP_064512.1 "A245D,A43P,G146D,K296R,Q18R,R173T,R235H,S202N,T175M,V13L,V222A,V23M" "0,0,0,0,0,0,0,0,0,0,0,0" 7286 8801 sw10579;spmut301;dbsnp11855 CD209_HUMAN;NP_066978.1 "A283T,A382S,E168D,E172Q,E214D,E237D,H40R,K223N,L160F,L242V,M270L,Q167K,Q244R,R198Q,R198W,R221Q,R312H,S296T,V293L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 30835 8508 sw10580 PRM3_HUMAN Q100R 0 58531 14605 sw10581;dbsnp13173;dbsnp13177 SH22A_HUMAN;NP_001154916.1;NP_003966.2 "A41S,L5Q,N52S,R188Q,R272C" "0,0,0,0,0" 9047 8608 sw10582;dbsnp3759;dbsnp3760;dbsnp3761 FA60A_HUMAN;NP_001129283.1;NP_067061.1;NP_001129284.1 "I103M,R117H" "0,0" 58516 12512 sw10583;sws1176;dbsnp19062;hgmd0613_1409 ABCB6_HUMAN;NP_005680.1 "A164T,A492T,A511T,A57T,A681T,E220V,G588S,L293V,L425V,L811V,R192Q,R192W,R276W,R343Q,R584H,R648Q,R685C,R723Q,T521A,T521S,T778I,V310F,V454A" "0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 10058 2944 sw10585;sws1178;dbsnp17411 ARFG3_HUMAN;NP_055385.3 "A482T,E290K,F488L,G226V,I316F,M431T,N99S,Q468H,Q490R,Q511H,R404C,R404H,S173Y,S231G,S355R,S370G,Y378C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26286 6283 sw10586;dbsnp22149 AMBN_HUMAN;NP_057603.1 "A248V,A255V,E317A,E436K,G268R,G300S,G78V,H294Q,H439R,L354P,L391S,M11T,M285I,M76I,R222H,S102Y,V378I,Y99H" "0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0" 258 7641 sw10587;dbsnp26395 MLXPL_HUMAN;NP_116569.1 "A207V,A358V,D244E,E723K,K113R,P264H,P311L,P851T,Q241H,R841W,S292R,V758I" "0,0,0,0,0,0,0,0,0,0,0,0" 51085 2888 sw10588;dbsnp676;hgmd0613_1989 RAB18_HUMAN;NP_067075.1 "A198T,I50V,L24Q,N113S" "0,0,1,0" 22931 12236 sw10589;dbsnp14531 PALMD_HUMAN;NP_060204.1 "D232N,E453D,E459D,E60Q,F317L,H73Q,I289M,I439N,L107S,N169H,N229S,P412R,T276M,T537A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54873 5826 sw1058;dbsnp9566 TM1L1_HUMAN;NP_005477.2 "A414P,N345H,P377L,R108S" "0,0,0,0" 10040 7074 sw10590;dbsnp3891 ABCB9_HUMAN;NP_062571.1 "A97T,F92L,H518L,I245V,M459T,N688K,S526C,S546G,V121L,V121M,V230I,V296G,V413I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23457 3469 sw10591;dbsnp24734 VTA1_HUMAN;NP_057569.2 "C38S,D180H,I239M,P8T,P9A,Q259H,R106H,V292I" "0,0,0,0,0,0,0,0" 51534 10714 sw10592;dbsnp12073;hgmd0613_1849 SYSM_HUMAN;NP_060297.1 "A167V,D390G,D59A,E46K,I286M,R104W,R118W,R431H,S364G,S83L,T35A,V150I" "0,1,0,0,0,0,0,0,0,0,0,0" 54938 6314 sw10594;dbsnp11575 CABP5_HUMAN;NP_062829.1 "E140K,G73S,I147S,L80P,P144R,R111Q,R152Q,R34W,R44Q,T65R,V128A" "0,0,0,0,0,0,0,0,0,0,0" 56344 9200 sw10595;dbsnp26651 DPOLM_HUMAN;NP_037416.1 "E107D,G220A,G245R,G453R,L484F,R122C,R353H,S184L,V246F,V301M" "0,0,0,0,0,0,0,0,0,0" 27434 6763 sw10596;dbsnp20365 S6A20_HUMAN;NP_064593.1 "A9G,F249S,G560R,I472M,I529V,K141E,K549R,P353L,R187H,R582C,S42R,T133M,T199M,V104I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54716 5245 sw10597;dbsnp23414 RT30_HUMAN;NP_057724.2 "A102V,C33F,C33S,C33Y,E128Q,I233R,K305R,K90E,M1T,P303T,R12S,R310G,S368P" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10884 7788 sw10598;dbsnp5634 S39A2_HUMAN;NP_055394.2 "E139K,F115L,F147S,G129E,H145Y,H154Y,L43Q,L43R,L48P,M80V,P187L,R213Q,R280Q,R42W,S110T,T135I,V193M,V241I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29986 10672 sw10599;dbsnp27658 FGF20_HUMAN;NP_062825.1 "D206N,G116R,P175A" "0,0,0" 26281 12716 sw1059;sws118;spmut1087;dbsnp2628 KS6A4_HUMAN;NP_003933.1 "A269V,A287V,G143S,L232M,M520L,P350L,R387W,S758A" "0,0,0,0,0,0,0,0" 8986 3193 sw105;dbsnp11681 T150B_HUMAN;NP_001078957.1 "L177M,L199F,L77F,S56N" "0,0,0,0" 284417 12270 sw106 ANR62_HUMAN "A188S,A613T,C265R,E406K" "0,0,0,0" 342850 2512 sw10600 DLRB1_HUMAN "I71F,S13R" "0,0" 83658 14713 sw10601;sws1179;dbsnp24753 TREM1_HUMAN;NP_061113.1 "F214L,K135T,T25S" "0,0,0" 54210 12255 sw10602;dbsnp20194 KCMB3_HUMAN;NP_055222.3 "A15V,A53T,D44G,L132P,L71V,L75V,M230T,N165S,N169K,P83H" "0,0,0,0,0,0,0,0,0,0" 27094 11296 sw10603;dbsnp16317 ZF64A_HUMAN;NP_060667.2 "D321N,E72A,F425Y,H319Y,I638L,P139L,P552T,Q576R,Q68P,S451N,T113M,T572S,V248I,V336M,V416L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55734 4260 sw10604;dbsnp1921 CABP2_HUMAN;NP_057450.2 "A42T,E116K,I197T,R63Q,R94G,R94Q" "0,0,0,0,0,0" 51475 9200 sw10605;spmut1467;dbsnp7893 PAR6A_HUMAN;NP_058644.1 "G261E,P183R,R3Q,V286I" "0,0,0,0" 50855 9079 sw10606;dbsnp16265 GPCP1_HUMAN;NP_062539.1 "E105K,G245D,I545V,M511V,P3S,R421Q,S351G,T273I" "0,0,0,0,0,0,0,0" 56261 4354 sw1060;dbsnp17551 RFPL1_HUMAN;NP_066306.2 "C63Y,D164H,D29E,D29V,E161K,G263S,M127T,P304L,R121W,R179C,R179H,R244Q,S229T,S272N,S93I,V311F,W94R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5988 9015 sw10610;sws1180;dbsnp3923 SO1B3_HUMAN;NP_062818.1 "A571G,C162G,F36L,G256A,G437S,H4R,H92R,I215M,I52V,K330E,L226V,L456F,M233I,N145S,N317D,S112A,S418P,T147A,T414I,T550A,V560A,Y537C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28234 4062 sw10611;dbsnp6795 NGRN_HUMAN;NP_001028260.2 "D267G,E97Q,G145E,L174F,R245K,T82I" "0,0,0,0,0,0" 51335 11074 sw10613;dbsnp11353 CD320_HUMAN;NP_057663.1 "E257K,F59L,G220R,L249F,Q8R,R258C,S216Y,S241N" "0,0,0,0,0,0,0,0" 51293 11235 sw10614;dbsnp28211;dbsnp28212 FZD3_HUMAN;NP_665873.1;NP_059108.1 "I545V,L199M,M3I,R514H,R593P,S624G,T4S" "0,0,0,0,0,0,0" 7976 4022 sw10615;spmut2286;dbsnp8087;dbsnp8088 UBN1_HUMAN;NP_058632.2;NP_001072982.1 "A103D,A19V,A455V,A832P,G1125R,G955V,L536P,L623F,L841F,P935L,R407H,R58H,R667H,R667L,R667S,S1121P,S11C,S833F,S878L,V410L,Y435C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29855 1606 sw10616;dbsnp22984 PCD12_HUMAN;NP_057664.1 "A899V,D127H,D80E,E1023A,E1118D,E754K,G1176S,G187S,H385N,H485Y,H980Y,I1074T,I667T,L608P,M716I,N276S,P1084L,P684H,P684R,P879A,Q51R,R1182S,R151Q,R860Q,S1179G,S284G,S640N,T261M,T429A,V279A,V579M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51294 1470 sw10617;sws1181;dbsnp26577;dbsnp26578;dbsnp26579;dbsnp26580 ZDHC4_HUMAN;NP_001127861.1;NP_001127860.1;NP_001127859.1;NP_060576.1 "C151R,C298F,F61S,L156V,Q50P,R192K,R192T,T202M,V53M,W170C" "0,0,0,0,0,0,0,0,0,0" 55146 9814 sw10618;spmut1595;dbsnp14214 PPA6_HUMAN;NP_057445.3 "A332V,D146G,E309G,E309K,L201F,M402V,P100L,Q109R,R162H,R218W,T153N,T419S,V127M,V316M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51205 7983 sw10619;dbsnp21096;dbsnp21097;dbsnp21098 IL1AP_HUMAN;NP_001161401.1;NP_001161400.1;NP_002173.1 "G536A,R23H,V473M" "0,0,0" 3556 4195 sw1061;dbsnp17292 RFPL2_HUMAN;NP_001091997.2 "A119T,A322D,C141Y,D204N,G83R,P111T,Q215H,R182W,R341C,R50C,R50H,S324G,S68T,T290S,V279M,V348I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10739 9015 sw10620;spmut1377 NOX4_HUMAN M315I 0 50507 5449 sw10621;dbsnp28496 OBP2B_HUMAN;NP_055396.1 "D134N,G59S,H124Y,L146F,M99I,R106G,R137L,R137Q,R149C,R149H,S133P,S91G,T163A,V167I,Y90F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29989 13541 sw10622;dbsnp3206;hgmd0613_1804 TM138_HUMAN;NP_057548.1 "A126T,A127V,H96R,R154G,R154H,Y130C" "1,1,1,0,0,1" 51524 13680 sw10623;spmut1389;dbsnp12020 NRK2_HUMAN;NP_733778.1 "A223T,E178K,G164S,P202L,P76L,R117Q,R181H,R213L" "0,0,0,0,0,0,0,0" 27231 12326 sw10624;spmut666;dbsnp2196 FANCF_HUMAN;NP_073562.1 "A186V,D125N,D288V,G243E,H51Q,P320L,Q211H,S191R,V295I,V31L,V31M" "0,0,0,0,0,0,0,0,0,0,0" 2188 9115 sw10625;dbsnp9337;dbsnp9338 IRK16_HUMAN;NP_733937.1;NP_061128.1 "E225V,F97L,G120A,G120E,G5S,I11V,P250L,R302Q,R35Q,T232M" "0,0,0,0,0,0,0,0,0,0" 3773 8207 sw10627;dbsnp20823 TIDC1_HUMAN;NP_057673.2 "C78R,I77T,N161D,N76D,R59Q,V183I,V217I" "0,0,0,0,0,0,0" 51300 11189 sw10629;dbsnp10876 GP108_HUMAN;NP_001073921.1 "A439S,L79P,P154L,Q36R,R94H,T241M,V289I" "0,0,0,0,0,0,0" 56927 5948 sw1062;dbsnp17573 RFPL3_HUMAN;NP_001092005.1 "C80Y,D126N,D132N,E107D,E199Q,G305D,L110M,L170M,L33V,M83T,P20T,P232L,Q15H,R174H,R240C,S224G,S263G,T230R,T58A,V100A,V165M,Y181C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10738 9015 sw10630;sws1182;dbsnp16326 C1QR1_HUMAN;NP_036204.2 "A512P,D574N,G278R,G381R,G422R,G470E,M640V,P434L,P541S,P558S,P646R,Q78H,R366H,S155I,S219Y,S520L,T493I,T570A,V318A,V416I,V428L,V543I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22918 4572 sw10632;dbsnp13773 SLAF7_HUMAN;NP_067004.3 "D266G,D266N,G31S,H175Y,L233F,R203S,R269W,R76H,R76L,T302M" "0,0,0,0,0,0,0,0,0,0" 57823 10027 sw10633;dbsnp1690 AKIP1_HUMAN;NP_065693.2 "D131H,D199N,I132T,L171P,L52P,N3T,R23K,V207L" "0,0,0,0,0,0,0,0" 56672 12749 sw10634;dbsnp2000 CK016_HUMAN;NP_065694.2 "A423V,C283F,E2D,G346S,G393R,G402R,K410I,L21M,L398P,P144L,P311A,Q378H,R297K,R442Q,R467H,S212L,S363G,V210L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56673 7268 sw10636 SCUB2_HUMAN "H712Q,V752G" "0,0" 57758 2114 sw10637;dbsnp23319 ISK5_HUMAN;NP_006837.2 "A335V,D106N,D386N,E748G,E825D,G655D,H972R,I588M,K378Q,K420E,K969E,P516R,Q267R,R268C,R441H,R711Q,R790Q,S368N,S887R,V395M,V955A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11005 1738 sw10639;dbsnp20155 LZTL1_HUMAN;NP_065080.1 "A241T,A269S,D246N,K152E,K229E,N126H,Q251R" "0,0,0,0,0,0,0" 54585 10883 sw1063;dbsnp28455 SURF6_HUMAN;NP_006744.2 "A141T,A63T,D102N,E194A,E89K,N201H,R118Q,R146L,R146Q,R147G,R163W,R193G,R193Q,R193W,R287C,R287G,R81S,T175M,T175R,T190M,T311M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6838 9382 sw10640;dbsnp17266 RM40_HUMAN;NP_003767.2 "F39L,K93N,L116V,L11P,N184T,P181L,R129H,R164W,R73Q" "0,0,0,0,0,0,0,0,0" 64976 12835 sw10642;dbsnp28995 AFAF_HUMAN;NP_065692.2 "D240N,E35Q,G254D,H210R,I110T,N101D,T241R,T274K,V195M" "0,0,0,0,0,0,0,0,0" 54586 11008 sw10643;sws1183;dbsnp16461 PLCB1_HUMAN;NP_056007.1 "A1116V,A996D,D243E,E153V,E850D,E854K,I1039T,K825R,L1184F,P731A,R777K,T509M,Y490C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23236 1373 sw10644;dbsnp16321;dbsnp16324 CASS4_HUMAN;NP_001157588.1;NP_065089.2 "A689T,G230S,H675R,I6V,L740F,P660S,Q780H,R163L,R163P,R491K,R528L,R735C,S411C,S426L,S688T,S93N,T168I,T619N,T629N,T719M,T757M,V176M,V340L,V580I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57091 3311 sw10645;dbsnp22319;dbsnp22320 MEPE_HUMAN;NP_064588.1;NP_001171623.1 "A324V,A327V,A329V,A391T,D297H,G273R,G405R,H465N,I220V,I317V,N395K,N449T,Q487H,R481W,S206G,S206R,S256N,S414A,V330I,Y471C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56955 6214 sw10646;dbsnp377 CRAC1_HUMAN;NP_060528.3 "A106V,A168V,A253T,A628T,E658K,G126S,G221D,G221V,G520R,K186R,R127Q,R153C,R156W,S162R,V569M,V576I,V97I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55118 4470 sw10647;dbsnp23379 TRI36_HUMAN;NP_061170.2 "D65H,D678N,F136L,G20D,H697R,K428R,M211V,N456S,N480K,P716H,Q725E,S261T,S593F,V419M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55521 14912 sw10648 HEYL_HUMAN H47R 0 26508 10200 sw10649 ANO2_HUMAN "M401I,P147S,S505A,V112A" "0,0,0,0" 57101 2095 sw1064;spmut51 ADAP1_HUMAN G241S 0 11033 8961 sw10650;dbsnp9305 COPR5_HUMAN;NP_060875.2 "S43G,W94R" "0,0" 55352 13288 sw10651;spmut13;dbsnp22 A1CF_HUMAN;NP_620310.1 "A558S,G398S,S154P,V555M" "0,0,0,0" 29974 5113 sw10652;spmut2229;dbsnp26410 TRPV5_HUMAN;NP_062815.2 "A561T,A563T,A677V,A8V,D227E,L23P,L712F,M255I,M466T,P327L,Q667R,R154H,R263W,R414H,V199I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56302 3792 sw10654;dbsnp23782 JADE2_HUMAN;NP_056103.4 "D582E,G133R,G368V,G614R,G94R,P132L,R370C,R581G,R645K,R707Q,T669I,V741I" "0,0,0,0,0,0,0,0,0,0,0,0" 23338 3288 sw10655;sws1185;dbsnp18832 RTN4_HUMAN;NP_065393.1 "A1082D,A1082G,A71T,D357V,D456Y,D741N,E725K,E725Q,E899Q,G1070A,I324N,I924T,L416W,L814M,L981F,N784S,N941H,P657S,P77A,Q961E,R392Q,S303L,S440N,S848C,S862T,S920C,T450M,T945I,V314I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57142 1441 sw10658;dbsnp25001 TSSP_HUMAN;NP_005856.1 "A204G,E507D,E507G,I510T,R75Q,S104I,S40N,S508C" "0,0,0,0,0,0,0,0" 10279 6411 sw10659;spmut877;dbsnp24806 HINT3_HUMAN;NP_612638.3 "G36A,I117V,I93T,M131I,M131T,V29M" "0,0,0,0,0,0" 135114 13327 sw1065;dbsnp2402 KRA58_HUMAN;NP_066384.2 "C28R,S115C" "0,0" 57830 11311 sw10660 SERHL_HUMAN E3K 0 94009 10563 sw10661;dbsnp17495 MID51_HUMAN;NP_061881.2 "D222N,D264N,G78R,G90D,R114Q,R169W,R304H,T89M" "0,0,0,0,0,0,0,0" 54471 7350 sw10663;dbsnp17872 XPP3_HUMAN;NP_071381.1 "A506T,G453C,I450L,P493A,S273G" "0,1,0,0,0" 63929 6531 sw10664;dbsnp23336 DDX4_HUMAN;NP_077726.1 "G148D,G155S,G431D,I287V,K472E,L363S,P187T,R100K,V397A" "0,0,0,0,0,0,0,0,0" 54514 3843 sw10665;dbsnp28890 DMRT3_HUMAN;NP_067063.1 "A164T,G356V,H312Y,N261T,P18Q,P250L,P351L,Q380H,R217C,R428C,S347T,S463P,S85R,T167A,V424I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58524 7172 sw10666;dbsnp28651 OR2S1_HUMAN;NP_063950.2 "D53G,G270R,G316S,I215T,M108T,M143V,P89S,R123H,R17G,R310G,T111I,T161A,T58P,V14I,V238A,V287A,V30M,Y260C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56656 9738 sw10667;dbsnp21577 NIT2_HUMAN;NP_064587.1 "K92Q,R29Q,V231A,V260I" "0,0,0,0" 56954 11349 sw10668;spmut736;dbsnp18051 G6PC2_HUMAN;NP_066999.1 "A119T,F256L,F28V,H177Y,H250Y,I171V,I273V,L208V,L301S,P313L,P340L,S30F,S324P,S342C,T289K,V219L,Y207S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57818 13847 sw10669;dbsnp6573 AVEN_HUMAN;NP_065104.1 "E243A,G234W,G236V,G83D,I296T,K171I,N259Y,P274A,P339A,Q213P,Q228R,S110F,T307K" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57099 9364 sw1066;sws119;spmut2339;dbsnp3492 UTP20_HUMAN;NP_055318.2 "A1241V,A1796E,A917V,D109N,D552Y,E1817K,E2612Q,E2785Q,E880K,F478I,G1192E,G1666R,G2614S,G542S,H1519P,H1934R,H2469R,I1188M,I1373T,I2119V,I2697T,I88V,K1341Q,K181R,K1979E,K1985R,K2128R,K2164R,K320Q,K590R,L107V,L1882Q,L679S,M120T,M1572I,M167I,M2669V,N1261D,N1990T,N2182S,N377Y,N79S,P2616L,P339T,Q482L,R1153C,R1520C,R1520H,R2005C,R2173G,R22Q,R2765H,R490S,R672W,R693K,R869K,S299L,S502C,V1603A,V1905I,V2654I,V344I,V523M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27340 178 sw10670;dbsnp19939 PVRL3_HUMAN;NP_056295.1 "G436R,R432L,R432P,V409I,V549I" "0,0,0,0,0" 25945 5858 sw10671;dbsnp4112 GPR84_HUMAN;NP_065103.1 "G37D,L58F,N61S,R94S,S280N,T180S,V146A,V149M,Y332C,Y370H" "0,0,0,0,0,0,0,0,0,0" 53831 8665 sw10672;spmut969;dbsnp1744 INCE_HUMAN;NP_001035784.1 "A133T,A137V,A627V,A768T,A912T,E157K,E383K,E423D,E644D,E721D,G247E,G2V,M506I,M506K,M506T,N404S,P198L,P479A,Q687R,Q805H,R100H,R194C,R194H,R194L,R267Q,R278Q,R304W,R451H,R697Q,T3R,V120L,V281L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3619 2509 sw10673;dbsnp11847 EXOS5_HUMAN;NP_064543.3 "A158V,C33W,L151V,R12H,R225W,T5M,V118M" "0,0,0,0,0,0,0" 56915 12231 sw10674;dbsnp28768;hgmd0613_1787 EXOS3_HUMAN;NP_057126.2 "D132A,I253V,N56H,R18C,R18P,R51G,T150A,V110I,V65I,Y225H" "1,0,0,0,0,0,0,0,0,0" 51010 11371 sw10675;dbsnp26378 FSCN3_HUMAN;NP_065102.1 "A24S,D415N,E57K,H428L,L97M,M217V,P424L,R220Q,R285H,R311H,R356C,R98H,S267T,S402L,T240M,V467I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29999 6700 sw10676 KI13B_HUMAN V1471I 0 23303 542 sw10677;sws1186;dbsnp6626;dbsnp6627;dbsnp6628 PAK6_HUMAN;NP_064553.1;NP_001122101.1;NP_001122100.1 "A14V,A376V,C198Y,E184K,E388K,E475K,G181D,G205E,H215R,M594T,M76V,P208T,P337L,Q190R,R103C,R191H,R262Q,R292Q,R334C,R425Q,R9H,S207L,T151I,T210M,W160R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56924 4261 sw10679;dbsnp23520 PRDM9_HUMAN;NP_064612.2 "E745K,G144V,I339N,K788E,M74I,N790H,R20W,R323Q,R342G,R629T,R647W,R657T,R758S,R765S,S155A,T597S,T653S,T681S,T709S,Y335H,Y636F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56979 2645 sw10680;dbsnp362 SC31B_HUMAN;NP_056305.1 "A1084V,A1169S,A884T,D545Y,E1159K,E681K,G91S,H1130R,I1033F,I1166V,L1026F,L129F,L469P,L97R,M719T,P1015S,P167A,P372S,P381H,P414S,P955A,R1088C,R1108H,R237Q,R433Q,R478T,R610H,R779Q,R779W,R800G,R949C,S332A,S527R,S724G,S756N,T121M,V102L,V504M,V89A,Y100C,Y1111H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25956 1484 sw10681;dbsnp7507 PRDM7_HUMAN;NP_001091643.1 "A439T,D90E,L130S,L330P,N435K,N470D,R131K,R237H,R317K,S289N,S292T" "0,0,0,0,0,0,0,0,0,0,0" 11105 2645 sw10682;spmut98;dbsnp25948 ANLN_HUMAN;NP_061155.2 "A1045V,D1108G,G200S,G454R,G752E,I1109V,M34V,N158D,P175L,Q426E,R145H,R185K,R32K,S192L,S192W,S392N,S48N,S65W,T821M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54443 1645 sw10684;dbsnp22599;hgmd0613_1898 PRDM5_HUMAN;NP_061169.2 "I425V,K164I,K271R,Q93R,R257W,S356T,S371R,Y107C,Y545H" "0,0,0,0,0,0,0,1,0" 11107 4802 sw10686;dbsnp6694 MYO5C_HUMAN;NP_061198.2 "A400V,A783T,D192N,E1075K,E944K,I27V,I378M,K1164R,K960E,L522P,L634S,N1181Y,P1396L,P199A,Q1308K,R172C,R791W,S545Y,S602T,T643M,V1052I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55930 596 sw10687;dbsnp18526 ITM2C_HUMAN;NP_112188.1 "G53S,M112V,P45Q,R232H" "0,0,0,0" 81618 11547 sw10688;dbsnp22307 SAS10_HUMAN;NP_065101.1 "D371E,E105D,E120D,L402I,L421R,P194S,R159K,T23M,V240I" "0,0,0,0,0,0,0,0,0" 57050 7024 sw10689;dbsnp18498 STAR7_HUMAN;NP_064536.2 "M243I,N181S,R140P,R300H,T296M" "0,0,0,0,0" 56910 9198 sw1068;dbsnp21969 SCRG1_HUMAN;NP_009212.1 "P42L,Y29C" "0,0" 11341 14677 sw10690;dbsnp685 ENTP7_HUMAN;NP_065087.1 "L32M,L338F,L360F,M44V,R571Q,R573L,R58Q,S145R,V276A,V29M" "0,0,0,0,0,0,0,0,0,0" 57089 4960 sw10691;dbsnp11278 ZNF71_HUMAN;NP_067039.1 "A74T,C75Y,D246N,D246Y,G32V,I258V,P121L,P96L,R141Q,R27G,R467G,S11L,V105I,V179A,V179M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58491 3578 sw10692 CH004_HUMAN V10I 0 56892 14574 sw10693;sws1187;spmut1502;dbsnp23343 PDLI7_HUMAN;NP_005442.2 "A326T,A378V,A40V,E56D,L173F,P236L,R147W,R292H,T279P,Y333C" "0,0,0,0,0,0,0,0,0,0" 9260 7455 sw10694 C163B_HUMAN "D578N,G1055S,G582A,L523M,M1108T" "0,0,0,0,0" 283316 898 sw10695;spmut560;dbsnp3608 DYRK4_HUMAN;NP_003836.1 "A154T,A61T,A70S,D454V,E234G,N189S,P233S,Q54H,T182I,T37I,V130L,V130M,V365M,V483A,V95I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8798 6306 sw10697;dbsnp4586;hgmd0613_1920 DBLOH_HUMAN;NP_063940.1 "F16L,G224R,R202Q,S126L" "0,0,0,1" 56616 12146 sw10698;dbsnp806 DDX21_HUMAN;NP_004719.2 "G3A,K224R,K35Q,P754L,P83A,R144G,R767I,S512I,T27I,V690L,Y434H" "0,0,0,0,0,0,0,0,0,0,0" 9188 3332 sw10699;dbsnp18016 DPOE4_HUMAN;NP_063949.2 G17V 0 56655 14442 sw10700;dbsnp28506 SIAS_HUMAN;NP_061819.2 "E68D,M117I,P174S,P18L,R271C,S251L,V234M,V296L" "0,0,0,0,0,0,0,0" 54187 9455 sw10701;dbsnp28534 SHLB2_HUMAN;NP_064530.1 "A204D,A305V,A44T,C267S,G380D,M308I,N381D,P190S,P319L,V223M" "0,0,0,0,0,0,0,0,0,0" 56904 8690 sw10704 BATF3_HUMAN V11I 0 55509 14297 sw10705;dbsnp18467;hgmd0613_1919 CP26B_HUMAN;NP_063938.1 "A185V,A39T,A420G,D227N,E152K,E380K,E499K,H209D,K321T,L264S,P472S,R191H,R363L,R473C,S146P,V181M,V22L,V479I" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0" 56603 6257 sw10706;spmut150 ASAH2_HUMAN "A346S,T51A" "0,0" 56624 3364 sw10707;sws1188;dbsnp18912 ARHG4_HUMAN;NP_056135.2 "A143T,D33H,E111Q,E86K,K100E,Q283R,R650C,R660Q,S322N,V64I,V85I,W135C" "0,0,0,0,0,0,0,0,0,0,0,0" 50649 1211 sw10708;dbsnp20495 ARHG3_HUMAN;NP_062455.1 "D505N,K13R,L335V,N432S,N436H,N518K,Q124K,R376H,R508C,V112I,V381M,V526I" "0,0,0,0,0,0,0,0,0,0,0,0" 50650 5184 sw10709;dbsnp16044 S2A4R_HUMAN;NP_064446.2 "A341V,E231D,E233D,F128Y,R101L,V263G" "0,0,0,0,0,0" 56731 8855 sw1070;dbsnp24427 GPX5_HUMAN;NP_001500.1 "A47T,A77V,G164D,L85P,L85V,V67I" "0,0,0,0,0,0" 2880 12410 sw10710;sws1190;dbsnp20652 TLR9_HUMAN;NP_059138.1 "A882T,G629S,G862E,H79Q,K678I,K725N,L673V,P99L,R311Q,R5C,R704W,R863Q,S750G,T1030K,T1030M,V571M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54106 1975 sw10711;dbsnp29878 TLR8_HUMAN;NP_619542.1 "A664V,C25Y,E27K,E48Q,I18V,M1033K,M10V,M1V,R715Q" "0,0,0,0,0,0,0,0,0" 51311 1935 sw10712;dbsnp29691 MXRA5_HUMAN;NP_056234.2 "A1128V,A1351V,A2346T,A2567V,A5T,D1329N,D1596E,D222N,E1421K,E1575D,E1647Q,E2426D,E2700D,E990K,G1036A,G1394D,G2000S,G2605S,G2663W,G303D,G798S,H1464Y,I1518T,I463V,I771T,I824V,L2531V,M2758V,N2675S,N709D,P1026Q,P1026S,P1138L,P1511S,P1665A,P1665S,P1898R,P21Q,P314H,P754L,P827R,P883L,R1163H,R1231W,R1300G,R1356H,R2039C,R2734Q,S750L,T1094I,T1099I,T1115I,T1379S,T1484A,T1871A,T1886I,T447M,T663A,T663M,V2022I,V2255I,V2647I,V595M,V696L,V764L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25878 170 sw10713;dbsnp11868;dbsnp11870 SPHK2_HUMAN;NP_064511.2;NP_001191088.1 "A506S,D530E,E9K,G21R,G26R,G550S,G601A,I76L,P504S,P654H,R652Q,R80C" "0,0,0,0,0,0,0,0,0,0,0,0" 56848 4546 sw10715;dbsnp26348;dbsnp26349;dbsnp26350 CHSTC_HUMAN;NP_001230724.1;NP_001230723.1;NP_061111.1 "A145P,A210G,G130R,K172T,L60F,P52H,P94L,R109S,R222H,R222L,R222P,T61S,V272M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55501 8297 sw10716;dbsnp26800 ST7_HUMAN;NP_068708.1 "A186T,I229T,I361V,I574V,M547T,P576L,R311K,R567L,T6R" "0,0,0,0,0,0,0,0,0" 7982 5338 sw10718;dbsnp16520 OTOR_HUMAN;NP_064542.1 "E128K,G20R,L31P,M1T" "0,0,0,0" 56914 14281 sw10719;dbsnp13758 FBX6_HUMAN;NP_060908.1 "D69H,M51V,P201T,P259T,Q274K,Q278H,R110H,R31H,R56C,R60Q,R82Q,V290I" "0,0,0,0,0,0,0,0,0,0,0,0" 26270 11025 sw1071;spmut2060;dbsnp19127 STK16_HUMAN;NP_001008910.1 "D217N,E55K,H41R,I77V,P277L,R215Q,R266W" "0,0,0,0,0,0,0" 8576 10752 sw10721;dbsnp6603;dbsnp6604 DUOX1_HUMAN;NP_787954.1;NP_059130.2 "A120T,A324P,A324T,C1026R,D1263N,E574G,I962T,L1178F,N555S,Q1029H,R1215H,R1216C,R1216H,R1219Q,R1270Q,R1488H,R428W,R669H,R699C,R857H,R905W,R925W,R971C,S1545F,S58N,S975I,T1423M,V636M,V641M,W16C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 53905 777 sw10722;dbsnp1990 MMP26_HUMAN;NP_068573.2 "G172D,I260M,K43E,S46L,T50I" "0,0,0,0,0" 56547 11680 sw10724;spmut1923;dbsnp7784;hgmd0613_710 SH2B1_HUMAN;NP_001139267.1 "A99V,K150R,P90H,S410F,S616P,T175N,T484A,V541A" "0,0,1,0,0,1,0,0" 25970 3558 sw10725;dbsnp29162 DPOE3_HUMAN;NP_059139.3 "D126A,E135D,E77Q,T83A" "0,0,0,0" 54107 13975 sw10726;dbsnp27515 CHRC1_HUMAN;NP_059140.1 "C55Y,E114D,H126R,S18L" "0,0,0,0" 54108 14228 sw10727;spmut1980;dbsnp13336 SMYD2_HUMAN;NP_064582.2 "F166C,G165E,G394C,I430M,M384V" "0,0,0,0,0" 56950 7896 sw1072;dbsnp5834 WDHD1_HUMAN;NP_009017.1 "A821T,D167A,D331N,E1097K,E1102K,E461D,E778Q,F338L,G607A,G645E,I235V,I276L,I276V,L411P,M939I,N1067H,P638A,Q231L,R373Q,R429W,S1116P,T1004I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11169 1631 sw10730;dbsnp26445 YAED1_HUMAN;NP_064577.1 "A7P,A7T,D21E,H193Y,K68E,L99S,P13S,T125I" "0,0,0,0,0,0,0,0" 57002 12419 sw10731;sws1192;spmut1986;dbsnp21173;dbsnp21174 SNRK_HUMAN;NP_001094064.1;NP_060189.3 "L260S,L672F,P391S,P748L,R24Q,S756T,T426M" "0,0,0,0,0,0,0" 54861 3477 sw10732;dbsnp8742 TBG2_HUMAN;NP_057521.1 "A319T,M413V,S226P" "0,0,0" 27175 7573 sw10733;dbsnp13121 DISC1_HUMAN;NP_061132.2 G5V 0 27185 2690 sw10734 MOST1_HUMAN "K49R,T19M,T57I" "0,0,0" 100507249 14663 sw10735;dbsnp24408 TULP4_HUMAN;NP_064630.2 "A1112T,A1516V,D979N,G1129D,G214S,M907I,N1314S,P1215S,P1281A,P1281T,P423L,P531S,P809T,P919L,Q1182H,R1448Q,R199S,R306Q,R373Q,R390H,R902Q,S522N,S537N,S649P,S83N,T1089M,T1239I,T787M,V1084I,V1466M,V204I,V395I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56995 783 sw10736;dbsnp23371 PCDBG_HUMAN;NP_066008.1 "A214V,A415P,A508T,A710V,D342H,D495N,D51Y,D91E,E526A,E526D,F670Y,G53A,H659Q,I382M,K171T,L208V,N647H,N684H,Q638H,R202Q,R525Q,R652C,R724C,S532G,S543R,S596L,T482I,T57I,T756R,V167A,V340M,V347L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57717 3206 sw10737;sws1193;dbsnp15053 ABCBA_HUMAN;NP_036221.2 "A150S,D545N,E479K,I517V,K341T,K653E,L84P,N478K,N697S,R242G,V481I,Y712C" "0,0,0,0,0,0,0,0,0,0,0,0" 23456 3720 sw10738;dbsnp5484 BAZ1A_HUMAN;NP_038476.2 "D1232N,D344E,E906G,I1318V,I185V,N127S,N1366K,P1322T,R1409K,R876C,R935C,R935H,S1221G,V1542A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11177 771 sw10739;dbsnp11796 STRN4_HUMAN;NP_037535.2 "P380H,R291L,S161L,V568I,V714M" "0,0,0,0,0" 29888 3523 sw10742;sws1194;dbsnp26546 ZN277_HUMAN;NP_068834.2 "E315D,K77N,P111H,S383L,V174I,V364M" "0,0,0,0,0,0" 11179 7591 sw10743;dbsnp20337 I17RB_HUMAN;NP_061195.2 "A209V,C499R,F278L,G177R,G177S,G489E,I451T,K320T,N458S,Q221P,R232Q,R49Q,S122C,S411G,T327I,V22I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55540 6620 sw10744;sws1195;spmut1102;dbsnp4931 LATS2_HUMAN;NP_055387.2 "A1014G,A203V,A324V,D1013N,D852E,G363C,G363R,G363S,G554S,G563R,H691P,H691Q,I772V,I799V,L1025P,N549S,P190R,R151Q,R169Q,R525S,R945G,S91L,T917A,Y191C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26524 1757 sw10745;dbsnp19501 METL5_HUMAN;NP_054887.2 "A152V,K194R,R115S,V202G" "0,0,0,0" 29081 12767 sw10746;dbsnp7420 COXM2_HUMAN;NP_064573.1 "N55K,T11S,V53I" "0,0,0" 56942 14832 sw10747;sws1197;spmut2065;dbsnp18285 STK36_HUMAN;NP_056505.2 "C1231G,C447R,D329N,F476S,G1003D,G356R,H1267R,H1313P,I90M,K295R,K316R,K463N,L122P,L462V,L672P,L790V,L840V,M780T,N562S,P444S,Q1138K,Q638P,Q696P,R1112Q,R218C,R240W,R291Q,R477W,R497G,R497Q,R583Q,R839Q,S1280P,S767T,T152A,T816A,T829A,V1004I,Y1111C,Y764C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27148 1137 sw10748;dbsnp20123 PLS4_HUMAN;NP_065086.2 "A107S,F313L,I155V,K239E,L71F,M1I,N34S,Q151K,R184Q,R82L" "0,0,0,0,0,0,0,0,0,0" 57088 10166 sw10749;dbsnp22243 CYTL1_HUMAN;NP_061129.1 "R134C,R134G,R136C,S51L" "0,0,0,0" 54360 14152 sw10750 TRYG1_HUMAN "I126M,L204I,L288F,M60V,S132T,T239I,W160S" "0,0,0,0,0,0,0" 25823 10375 sw10751;spmut1798;dbsnp23185 RNC_HUMAN;NP_037367.3 "P170L,P346L,P67T,P83L,S321L,S854F" "0,0,0,0,0,0" 29102 1027 sw10752;dbsnp13790 UBQL4_HUMAN;NP_064516.2 "I495M,P501H,R298Q" "0,0,0" 56893 5126 sw10754 TMPS4_HUMAN V208G 0 56649 7825 sw10755;dbsnp1403 SNX15_HUMAN;NP_037438.2 "A198T,A224T,D137N,E74K,H109L,H109P,P177L,P178T,R105H,R204Q,R334C,R334H,R3L,R56C,R56S,R81G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29907 9859 sw10756;dbsnp384 CNNM1_HUMAN;NP_065081.2 "A368T,A815D,D912N,E873K,G178D,L647V,L880P,P209Q,R819Q" "0,0,0,0,0,0,0,0,0" 26507 2335 sw10757;dbsnp3250 HEBP1_HUMAN;NP_057071.2 "D164E,D172E,E183D,F84V,K40T,R181H,T169M,T169S" "0,0,0,0,0,0,0,0" 50865 13188 sw10758;dbsnp25064 DUS22_HUMAN;NP_064570.1 "A23T,A23V,C77W,E76D,G11S,L159F,R119H,R80H,V143I,V96M" "0,0,0,0,0,0,0,0,0,0" 56940 13289 sw10759;dbsnp18380 PNO1_HUMAN;NP_064528.1 "G42R,G71A,M220V,N240S,N83T,P79A,R11G" "0,0,0,0,0,0,0" 56902 11867 sw1075;dbsnp3972 P3C2G_HUMAN;NP_004561.3 "A261E,H380Y,I431T,K1156E,L669F,M952I,N1442T,N495D,N495I,N769K,P146L,P69S,P911L,R1377C,S335R,T243M,V1290G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5288 906 sw10760;dbsnp25249 SERC1_HUMAN;NP_065806.1 "A231S,A231T,C226W,E63D,F216V,L199V,N406S,Q316K,S181L,S225G,S428C,V214G,V218G,V235G,V52I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57515 7143 sw10761;spmut1574;dbsnp9146;dbsnp9147 PLS3_HUMAN;NP_065093.2;NP_001188505.1 V293I 0 57048 10433 sw10762;spmut775;dbsnp14890 GLRX2_HUMAN;NP_932066.1 "E162G,K95E,M1T" "0,0,0" 51022 13628 sw10763;dbsnp20286 RASF1_HUMAN;NP_733832.1 "A137S,D133E,H319R,K21Q,L283V,R176C,R235Q,R261Q,R53C,S135F,V47F,Y329C" "0,0,0,0,0,0,0,0,0,0,0,0" 11186 9815 sw10764 SPNXB_HUMAN V74L 0 728695 14606 sw10765;sws1199;dbsnp323 RED2_HUMAN;NP_061172.1 "A44T,A560T,A626T,D691N,G418S,Q718H,R374C,R456Q,R457H,R533H,R629C,R657Q" "0,0,0,0,0,0,0,0,0,0,0,0" 105 3709 sw10766;dbsnp18834 KCNH7_HUMAN;NP_150375.2 "G958A,H190Y,K1098R,L1115F,M880I,N288S,N308I,V374M" "0,0,0,0,0,0,0,0" 90134 1429 sw10767;spmut2191;dbsnp29072;hgmd0613_1417 TOPRS_HUMAN;NP_005793.2 "A154T,D899N,E517K,G276S,H824Q,H881Q,I272V,L574V,N749D,P20S,P812R,P812S,Q413L,Q413P,R673L,S25W,S577Y,S682P,T241M,T842N,Y836C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10210 1920 sw10768;dbsnp5113 THSD1_HUMAN;NP_061146.1 "A596V,D491H,E291K,E470K,E579D,G600E,I234T,K768R,L624M,P375S,Q556E,R224G,R364H,R694I,V125G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55901 2889 sw10769;dbsnp5053 TNR19_HUMAN;NP_061117.2 "A159V,E68K,H407P,M254V,N338S,P262S,P408L,P48A,R207W,R419Q,S31T,T297M,V156M,V405I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55504 8090 sw10770;dbsnp5712 MBIP1_HUMAN;NP_057670.2 "L71P,L7H,N184S,R22S,R241Q" "0,0,0,0,0" 51562 9816 sw10771;dbsnp12123 AAA1_HUMAN;NP_062823.1 "E112D,E489K,R181C,R267H,R410H,R413Q,S471N,T184M,V146M,V304M,V493M" "1,0,0,0,0,0,0,0,0,0,0" 56301 6059 sw10772;spmut1098;dbsnp26230 LANC2_HUMAN;NP_061167.1 "I231V,I74V,R183I,R256Q,T245M,T4I,T56P" "0,0,0,0,0,0,0" 55915 7592 sw10773;dbsnp20572 KIF15_HUMAN;NP_064627.1 "A211V,C162S,D1059H,D372E,D408E,E1120G,E1272D,E1292K,E829D,E837K,F128S,H1147Q,I659V,I873V,I931T,L1206M,N495D,N827S,Q1246K,Q871E,R257W,R325Q,R501L,S1083L,S997L,T543S,T663A,T769A,T826R,T996S,V938I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56992 1003 sw10774;dbsnp19967 RAD18_HUMAN;NP_064550.3 "E6A,I307V,I427T,I470M,K110E,L48R,L48V,R302Q,R476H,R477H,S144F" "0,0,0,0,0,0,0,0,0,0,0" 56852 6747 sw10775;dbsnp4053 TM7S3_HUMAN;NP_057635.1 "A172V,A228V,E52Q,I58V,L545P,P179R,P248L,R548Q,V221M,V78A" "0,0,0,0,0,0,0,0,0,0" 51768 5551 sw10776;dbsnp21045 SEM3G_HUMAN;NP_064548.1 "A47V,A676D,G355R,G371E,I232T,L671R,R169W,R557H,R613H,R67Q,R728H,R91W,S180N,S500A,V332I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56920 3342 sw10777;spmut1857;dbsnp2400 S22AB_HUMAN;NP_060954.1 "A240P,A240T,A2V,A542T,D97E,G246D,L29P,L491V,R121C,R343L,R473Q,T232M,V13M,V155G,V155M,V339M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55867 5789 sw10778;dbsnp10976 FGF21_HUMAN;NP_061986.1 "F101L,G141S,L142V,L174P,P88L,R47Q" "0,0,0,0,0,0" 26291 12768 sw10779;dbsnp3390 KRT84_HUMAN;NP_149034.2 "A352V,C446R,D181Y,E413K,F122V,G121D,G123C,G368S,G497R,G86V,I206V,L445Q,P72H,R13Q,R184Q,R234Q,R234W,R326C,R402H,R443W,R4C,R71W,R7L,R7Q,S198N,S533I,T300M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3890 5134 sw10780;dbsnp3597 KRT82_HUMAN;NP_149022.3 "A300T,A373V,E219Q,E260V,E351K,E452D,G287S,I435V,I92V,L375V,M500T,N129K,P88L,P94S,R139H,R187H,R314Q,R314W,R330C,R496Q,S508P,S89Y,T163I,T458M,V60M,Y311C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3888 5134 sw10781;dbsnp6756 HOME2_HUMAN;NP_955362.1 "I239S,P26L,R196W,R219H,R320C" "0,0,0,0,0" 9455 9562 sw10782;dbsnp7707 SALL1_HUMAN;NP_002959.2 "A918T,E610Q,E626D,F486L,G1265E,K571R,M98V,N1291S,P533H,P635L,P635S,S1232R,S158G,S159G,V1108L,V1275I,V127L,V226I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6299 1119 sw10783;dbsnp12394;dbsnp12396 HOME3_HUMAN;NP_004829.3;NP_001139194.1 "A30V,R226Q,R290C,S342R,T166I,T243N,V144I" "0,0,0,0,0,0,0" 9454 9395 sw10784;dbsnp9328 SIA7A_HUMAN;NP_060884.1 "G412S,G98R,I424V,L350M,Q112R,R578Q,R586W,R590S,S33F,T164N,T207I,T207P,V339M,V433M,V80A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55808 5135 sw10785;dbsnp3329 S6A13_HUMAN;NP_057699.2 "A586T,D478N,E481K,G329S,G439R,P363L,R189Q,R364W,R415Q,R577Q,S583W,V426I" "0,0,0,0,0,0,0,0,0,0,0,0" 6540 4740 sw10786;dbsnp14521 SYIM_HUMAN;NP_060530.3 "A14V,A172G,E1007Q,E418K,E708K,I160T,I522V,K576E,M384T,R817L,S339F,S724N,T353S,V320A,Y648C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55699 2061 sw10787 ABCCD_HUMAN S228N 0 - 11400 sw10788;dbsnp13698 CA112_HUMAN;NP_060656.2 "A481S,C143F,E781A,F285S,G750E,N181S,P621L,R567H,R841T,S209G,T99I" "0,0,0,0,0,0,0,0,0,0,0" 55732 2879 sw10789;dbsnp17021 F207A_HUMAN;NP_478070.1 "A62T,E113K,S161I,V212L,V71M,V89I" "0,0,0,0,0,0" 85395 12327 sw1078;dbsnp27400;hgmd0613_1593 TRPA1_HUMAN;NP_015628.2 "A122V,A172V,A521V,E179K,H1018R,I469V,I599V,K115R,K186N,M626I,N109K,N130I,N373I,R3C,R458H,R58T,R694C,R996C,R996H,V114I,V299M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8989 1657 sw10790;dbsnp16987 IGSF5_HUMAN;NP_001073913.1 "A352T,C289R,C290R,D350E,G265V,H388Y,I109N,I110F,I69L,L68V,M275T,N156K,R170W,R291C,R302H,R314S,R377Q,R49T,S186N,S198R,V216M,V62I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150084 8439 sw10791;dbsnp16956 BRWD1_HUMAN;NP_061836.2 "D1695N,D2196N,G1488E,H1706Y,H1838D,I1468V,I1818V,I2140L,K156R,K2156R,L1699P,L1869V,L1965F,L2075S,M1035T,M670I,N379S,Q83E,R1441Q,R679T,R810S,S1511P,S1539C,S1548T,T1538A,T2050A,V1532M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54014 298 sw10793;dbsnp25197;dbsnp25198 KLC4_HUMAN;NP_958930.1;NP_958929.1 "E430K,G543R,G556C,G556R,H59R,R27W,R358C,R431W,R579Q,R72H,S285R" "0,0,0,0,0,0,0,0,0,0,0" 89953 4727 sw10794;dbsnp12363;hgmd0613_586 CS012_HUMAN;NP_001026896.2 "E29K,G53R,G65E,G69R,K142E,K142T,Q149R,T11M,V122I,V84A" "0,1,1,1,1,0,0,1,0,0" 83636 13884 sw10795;dbsnp17377 PLPL3_HUMAN;NP_079501.2 "C99G,C99R,E250G,E267D,E331G,F187L,G115C,I148M,I176T,K434E,K434N,L310R,P186H,S289L,S453I,S453R,S47A,T200M,T216P,T395S,V162M,V227I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80339 6988 sw10796;dbsnp21225 TREX1_HUMAN;NP_057465.1 P24A 0 11277 9225 sw10798;sws1201;dbsnp21894 BMP2K_HUMAN;NP_942595.1 "A809V,A860T,D212V,E797G,G405S,I1136T,N1057Y,P936T,Q1161E,Q486H,R288C,R288H,S595R,T1002S,T388P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55589 1524 sw10799;dbsnp6709 STAR5_HUMAN;NP_871629.1 "C156F,G74S,H177Y,I130V,M9V,R195C,V77M" "0,0,0,0,0,0,0" 80765 12675 sw1079;dbsnp9225 RA51D_HUMAN;NP_002869.3 "A190T,A225T,A49V,C9S,E233G,E307K,N138D,N138H,R165Q,R232Q,R24S,T328I" "0,0,0,0,0,0,0,0,0,0,0,0" 5892 9719 sw107;dbsnp1518 CC88B_HUMAN;NP_115627.6 "A1059S,A1060V,A930V,A945T,D1279E,D193E,D886A,D886Y,E542K,E681A,G36R,L1196P,L1198P,P252L,P492L,P551L,R1058W,R1127W,R1254W,R1275W,R1286C,R1457Q,R1468G,R594H,R865Q,R887W,S1037F,S579P,T943I,W639R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283234 862 sw10800;dbsnp16249 EMIL3_HUMAN;NP_443078.1 "A499S,A499V,A611G,A632T,A699P,A708V,A81T,D396G,G459A,G459E,H55P,H648L,H684D,L200F,L613S,P150H,P230A,R192C,R285Q,R338W,R500W,R649T,R702S,S532N,V534M,V686L,V79I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90187 3470 sw10801 TEN2_HUMAN V1719F 0 57451 180 sw10802;sws1202;dbsnp17566 PKDRE_HUMAN;NP_006062.1 "A963G,D728N,D938V,G1983S,G896S,H201N,I1099V,I1147M,I1528M,I563V,I803V,L1896M,L914P,M1371T,M1749V,M2203T,M638V,N1091S,N1301D,N1411D,N890S,P1531L,P250R,P725S,R1085H,R1569W,R1744H,R2198C,R2241I,R447G,R528Q,R797C,S1101C,S1589N,S1748C,S991R,T1863M,T982R,T992P,T992S,V1190M,V1550I,V1729I,V2162I,V216D,V261G,V26A,V339A,V833E,V993A,Y1998H,Y2235F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10343 314 sw10803;spmut1946;dbsnp1446 SIR3_HUMAN;NP_036371.1 "A146S,F79L,G285S,G369S,P151R,P262H,Q388R,R133Q,R276S,R279H,R80W,T320N,V208F,V208I,V334L,V334M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23410 8605 sw10805;dbsnp20799;dbsnp20800 SMC4_HUMAN;NP_001002800.1;NP_005487.3 "A678V,D786N,E415D,E60K,E60V,E832K,E841G,H152Q,I615V,K1112E,K587N,K659E,K679N,N356S,R272Q,S181R,T74A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10051 1187 sw10806;dbsnp6686 MA2C1_HUMAN;NP_006706.2 "A552V,A718D,A875T,C793Y,C871S,E229K,H602R,I389M,I635M,L908V,M219V,M336T,N151S,P643L,P655L,Q172H,Q528L,Q556R,R419H,R553H,R600H,R768Q,R818H,R820W,R969H,R975K,V60I,V722M,V950M,V960I,Y795C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4123 1867 sw10807;dbsnp20206 SAC1_HUMAN;NP_054735.3 "F58L,I73V,N127H,N127Y,Q376R,Y434F" "0,0,0,0,0,0" 22908 5311 sw10808;dbsnp1084 DEPP_HUMAN;NP_008952.1 "A184V,E17D,I44M,R16Q,R74Q,R77H,T101A" "0,0,0,0,0,0,0" 11067 12700 sw1080;dbsnp11081 PALM_HUMAN;NP_002570.2 "A104T,A114T,E234K,G144S,G223R,R119W,R196Q,T107A" "0,0,0,0,0,0,0,0" 5064 8850 sw10811;dbsnp1943 CK020_HUMAN;NP_001034585.1 "A117D,E154Q,E3K,P68L" "0,0,0,0" 25858 12960 sw10812;spmut1792;dbsnp25151;dbsnp25152;dbsnp25153 RN146_HUMAN;NP_001229780.1;NP_001229779.1;NP_001229778.1 "C25R,D324N,R157I,S203G,V299I" "0,0,0,0,0" 81847 9456 sw10813;sws1206;dbsnp16757;dbsnp16759 F217B_HUMAN;NP_001177755.1;NP_071389.1 "A164T,F127V,G310S,K250E,K59R,R248Q,S315F,Y380C" "0,0,0,0,0,0,0,0" 63939 8931 sw10814;dbsnp16508;dbsnp16509;dbsnp16510;dbsnp16511 RBM12_HUMAN;NP_006038.2;NP_690051.1;NP_001185767.1;NP_001185769.1 "A655V,G800S,M754L,N572S,P279S,P763L,P921L,T174A,T709S" "0,0,0,0,0,0,0,0,0" 10137 2421 sw10815;sws1207;dbsnp16078;dbsnp16079 ANKR5_HUMAN;NP_942093.1;NP_071379.3 "A2V,D217N,E38K,E678K,G412E,G661D,I589V,I99V,K15Q,L154F,L324Q,M520T,P177L,P452L,P528Q,P74T,R186H,R446W,R723W,R742Q,R743Q,S355G,T689A,V244M,Y712F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63926 3399 sw10816;dbsnp24970 MDN1_HUMAN;NP_055426.1 "A1044V,A1100T,A1373V,A2386V,A2714V,A3794G,A4044S,A4167T,A4214T,A5085V,A5464T,A5516V,C5033S,D1792H,D1996V,D3759E,D4281G,D4783E,D4883G,D5001V,E129D,E1507V,E3004K,E3045G,E3281Q,E3605K,E5235A,E811A,F440V,G2314R,G287S,G4919D,H1417Q,H1929D,H2415Y,H2422R,H2670Q,H2972P,H3175P,H3380Y,H3423Y,I1069T,I1586V,I2135V,I3090V,I4119M,I4720T,I660V,K1048E,K2772R,K5233R,L109F,L2041F,L2718V,L944S,M1374T,M1958I,M3807I,M394V,M4235K,M4661T,M4763I,N3062S,N3695H,N5251K,P3493L,P3645L,P4330S,P456L,P4999S,P5378A,Q1737E,Q5002E,R1430W,R1551H,R2405Q,R2455Q,R2640Q,R2640W,R2989Q,R3155Q,R3240C,R3297H,R3302Q,R3986L,R4063C,R4149H,R4266G,R428P,R428Q,R5122M,R5534L,R760Q,R965Q,S1559N,S2358F,S243F,S4186L,S4690N,S5078L,S5260C,S565C,T2281I,T2369A,T2678A,T3130M,T3593A,T4287A,T4385M,T5261A,T868I,V1182F,V1364M,V1630M,V3284I,V4401I,V4571M,V5308A,V5494L,W1042L,Y1242C,Y1256C,Y2022C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23195 16 sw10817;dbsnp24522 LYRM2_HUMAN;NP_065199.1 "K46E,M1L,M1V,R34W,T10K,T60P,Y44F" "0,0,0,0,0,0,0" 57226 14775 sw10818;dbsnp18613 FX4L1_HUMAN;NP_036316.1 "A253P,G139D,G387C,I137F,I155V,K49Q,L128F,L241P,M190V,N162K,P346Q,P9L,R145C,R377L,R379Q,S402P,T179N,V29I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200350 7779 sw10819 ZFP57_HUMAN R166H 1 346171 6038 sw1081;dbsnp29565 RENR_HUMAN;NP_005756.2 "A290P,P129S,P90A,R155C,S337R,V164I" "0,0,0,0,0,0" 10159 9648 sw10820;dbsnp12949;dbsnp12950 ZBT40_HUMAN;NP_001077090.1;NP_055685.3 "A225T,A843V,D1225N,D334V,E1237D,M267I,M490V,N199K,N848S,P979S,Q583H,R1114H,R759Q,S290L,S351Y,V997M,Y595C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9923 1311 sw10821;spmut45;dbsnp16405 ACS2L_HUMAN;NP_115890.2 "A279T,D586N,G7D,G9D,R152C,R227H,T85N,V10F,V245M,V479I,V487I,V488M" "0,0,0,0,0,0,0,0,0,0,0,0" 84532 4177 sw10822;dbsnp16345 CT096_HUMAN;NP_695001.2 "I305F,L353V,M94I,R279C,S117T" "0,0,0,0,0" 140680 9344 sw10823;spmut1540;dbsnp15654;dbsnp15655;hgmd0613_1850 PIGV_HUMAN;NP_060307.2;NP_001189483.1 "A341E,A341V,F489L,H385P,I117V,I32V,L457F,N291S,P34L,P426L,Q256K,R106Q" "1,1,0,1,0,0,0,0,0,0,1,0" 55650 6791 sw10824;dbsnp21007 ABHDA_HUMAN;NP_060864.1 "A8D,D278V,G213R,I251V,P27S,R5P,V214L,Y215C" "0,0,0,0,0,0,0,0" 55347 10735 sw10825;dbsnp1900;dbsnp1901 T11L1_HUMAN;NP_060863.3;NP_001139013.1 "A32V,A348S,D366N,F229Y,H109Q,H54N,K178R,K248N,Q89K,R332H,R508Q,S456L" "0,0,0,0,0,0,0,0,0,0,0,0" 55346 6488 sw10827;dbsnp7327 DDX28_HUMAN;NP_060850.2 "D236H,D293N,F320L,G132C,L277P,P135S,P537L,T4A" "0,0,0,0,0,0,0,0" 55794 5989 sw10828;dbsnp5627 S39A9_HUMAN;NP_060845.2 "E64D,G282A,M221T,R285C,T149M,V153I" "0,0,0,0,0,0" 55334 10715 sw10829;dbsnp26330;dbsnp26331 T106B_HUMAN;NP_060844.2;NP_001127704.1 "D39V,S134N,T185S,Y132D" "0,0,0,0" 54664 11401 sw1082;dbsnp17801 GRAP2_HUMAN;NP_004801.1 "A326S,G247S,L319F,R156W,R179Q,R277W,T149N" "0,0,0,0,0,0,0" 9402 10138 sw10830;spmut1123;dbsnp24287 LMBD1_HUMAN;NP_060838.3 "D469E,I395V,I400T,R34H,T144A" "0,0,0,0,0" 55788 5990 sw10831;dbsnp13008 TRM13_HUMAN;NP_061956.2 "A48M,A48T,A48V,A5V,L180I,L204I,N152D,S7L,T6S" "0,0,0,0,0,0,0,0,0" 54482 6989 sw10832;dbsnp27914 PLCE_HUMAN;NP_060831.2 "A111V,A162T,G33A,M291V,R195C,R195H,T182I,Y77C,Y89C" "0,0,0,0,0,0,0,0,0" 55326 9325 sw10833;dbsnp29972 TXLNG_HUMAN;NP_060830.2 "D53G,E423D,I187V,I246V,P522L,R115Q,R400H,R509S,S520Y,S526L" "0,0,0,0,0,0,0,0,0,0" 55787 4230 sw10834;dbsnp22506 UFSP2_HUMAN;NP_060829.2 "A333T,C311S,I310V,I62M,K103R,N83T" "0,0,0,0,0,0" 55325 7226 sw10835;dbsnp20775 ABCF3_HUMAN;NP_060828.2 "A697V,A89T,D502H,I557T,P503L,R340W,R510C,R510H,R687C,R687H,S170A,T142M" "0,0,0,0,0,0,0,0,0,0,0,0" 55324 3987 sw10836 FA49B_HUMAN N169K 0 51571 10299 sw10837;dbsnp16657 TM74B_HUMAN;NP_060824.1 "A10V,E8K,G90V,L225P,L33M,R117H,R96Q,V115M" "0,0,0,0,0,0,0,0" 55321 11787 sw10839;dbsnp23693 F105A_HUMAN;NP_061891.1 "A58V,C329G,D139H,F319L,L239F,P19A,R63Q,R63W,S154P,S277F,V56L" "0,0,0,0,0,0,0,0,0,0,0" 54491 9520 sw10840;dbsnp16068 SPTC3_HUMAN;NP_060797.2 "A496T,E37K,L140V,Y67H" "0,0,0,0" 55304 5650 sw10841;dbsnp26255 GIMA4_HUMAN;NP_060796.1 "E128D,E249Q,L118F,R105H,R254W" "0,0,0,0,0" 55303 10167 sw10843;dbsnp26789 POTE1_HUMAN;NP_056265.2 "G404V,I114V,M251V,Q301H,Q376R,V183G,V529M" "0,0,0,0,0,0,0" 25913 4752 sw10846;sws1209 TM140_HUMAN "F29L,P6S,Q11E,R7Q" "0,0,0,0" 55281 13265 sw10847;dbsnp17783 CV026_HUMAN;NP_060750.1 "E135A,P28L,Q137R,R129Q" "0,0,0,0" 55267 14121 sw10848 CU077_HUMAN E2G 0 140290 14312 sw10849;dbsnp27794;dbsnp27795 RN19A_HUMAN;NP_904355.1;NP_056250.3 "A784T,E95A,E95V,F559Y,K411R,K61Q,Q835H,R401H" "0,0,0,0,0,0,0,0" 25897 2979 sw1084;dbsnp20843 ZMY10_HUMAN;NP_056980.2 "A77T,D199N,G162E,M44T,N115S,P324T,Q358R,R230Q,R243C,R340Q,R369W,R391W,R407Q,V16G" "0,0,0,0,0,0,0,0,0,0,0,0,1,0" 51364 7763 sw10850;sws1210;dbsnp20169 TM39A_HUMAN;NP_060736.1 "A136T,A487T,E222K,R416Q,T260A,T335M" "0,0,0,0,0,0" 55254 6815 sw10851;dbsnp26132 TYW1_HUMAN;NP_060734.2 "A204V,D671N,E287K,E289A,G462V,G84S,H264Y,H282R,H397R,H632R,H702L,M439L,N596T,R436W,S611N,T44M,T476M,T575M,V605I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55253 3767 sw10853;spmut1355;dbsnp5147 NFIP2_HUMAN;NP_061953.2 "A136G,A136V,G168S,P124S,P130L,S152N" "0,0,0,0,0,0" 54602 9991 sw10854;sws1211;dbsnp16360 UQCC_HUMAN;NP_060714.3 "I64V,P85L,Q184R,R166W,R243Q,R40G,R51Q,S13G" "0,0,0,0,0,0,0,0" 55245 10884 sw10855;dbsnp7741 S38A7_HUMAN;NP_060701.1 "A162V,L46P,T78I,V209M,Y10C" "0,0,0,0,0" 55238 7367 sw10856;dbsnp2013;hgmd0613_1173 MED17_HUMAN;NP_004259.3 "E69D,F357L,L371P,M109L,P337L" "0,0,1,0,0" 9440 4582 sw10857;sws1212;dbsnp17033 SETD4_HUMAN;NP_059134.1 "A200S,C17S,I387V,K404N,P102L,R261H,R279Q,S416C,T251A" "0,0,0,0,0,0,0,0,0" 54093 7770 sw10858;dbsnp1680 CCD87_HUMAN;NP_060689.2 "A156T,A177T,F217L,L738R,L783M,M312L,R130G,R333H,R731Q,R750H" "0,0,0,0,0,0,0,0,0,0" 55231 2903 sw1085;spmut1613;dbsnp10917 PR15A_HUMAN;NP_055145.3 "A316P,A32T,A381V,A420V,A431S,D115G,E442K,G159R,G312S,H543D,K200R,K241R,K277E,P545L,R139C,R251P,R31H,R435G,R476S,R534Q,R557H,R594C,R595C,R618H,R658C,R65G,T597A,V199A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23645 4325 sw10860;sws1213;dbsnp13853 PANK4_HUMAN;NP_060686.1 "A547V,A6G,G68R,I194V,P398T,P582S,Q400H,Q684R,R401Q,R481Q,R529W,R543H,T205M,T71I,V600L,V600M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55229 3423 sw10861;dbsnp13964 EKI2_HUMAN;NP_060678.2 "E303D,H310Q,P10Q,R167C,R227Q" "0,0,0,0,0" 55224 7561 sw10863;dbsnp12948 DJC11_HUMAN;NP_060668.2 "D430N,D48V,G253S,L18S,R554K,T290A,T290S,V267M" "0,0,0,0,0,0,0,0" 55735 5705 sw10864;dbsnp15528 INT7_HUMAN;NP_056249.1 "H425R,I370T,S329N,S761L,V247A" "0,0,0,0,0" 25896 2276 sw10865;spmut668;dbsnp6590;hgmd0613_674 FANCI_HUMAN;NP_001106849.1 "A136T,A816G,A86V,C1167G,C156Y,C742S,E691K,G1316E,G53A,G655R,H858Y,I1289V,I275T,I404T,I671V,I73F,I877L,K939N,L1298I,L1298V,L605F,L619Q,L631F,M180T,M525V,M776V,N757S,P471R,P55L,Q686K,R1285Q,R944S,S1282N,S238G,V290M,V372I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 55215 1110 sw10866;spmut165;dbsnp13872 ATD3A_HUMAN;NP_060658.3 "A147T,A264S,A362V,A622V,C618R,D522H,E250K,E593K,G126D,G15D,K616M,L77V,P359S,R114C,R224Q,R242Q,R354Q,R451Q,R466W,R627H,S101N,W509L,W509R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55210 4604 sw10867;dbsnp2108 FA86C_HUMAN;NP_060642.2 "A109T,A7S,C129R,C90Y,G110R,N117K,P121S,P135L,R146W,R30P,R98H,S111I,S165C,T119I,T88M,V70A,W161L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55199 13622 sw10868;dbsnp5546 CN105_HUMAN;NP_060638.2 "E105D,G217R,H188Q,I240T,M159T,N20K,Q121H,R30L,T74A,T74S,Y235C" "0,0,0,0,0,0,0,0,0,0,0" 55195 10957 sw10869;sws1215;dbsnp3780 ASUN_HUMAN;NP_060634.2 "E555D,M66T,S305N,S485F" "0,0,0,0" 55726 4030 sw1086;dbsnp13557 BCAR3_HUMAN;NP_003558.1 "A247T,A624V,C233Y,C561G,D225N,D480V,D639E,E210K,E210Q,E371K,E464G,F6Y,G789A,H37L,H602Y,N603H,N733S,Q593H,Q96H,R158H,R238H,R274W,R38C,R469L,R469Q,R758Q,S358N,S417L,T279I,T698I,T715M,V296I,Y645C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8412 3057 sw10870;dbsnp30547;dbsnp30548 GNL3L_HUMAN;NP_001171748.1;NP_061940.1 "E127Q,F153L,N50D,N575S,P41L,R320H,R95C,T487A" "0,0,0,0,0,0,0,0" 54552 5382 sw10871;sws1216;dbsnp18212 DDX18_HUMAN;NP_006764.3 "A264S,C183Y,E142K,E146K,E401Q,I305V,K153T,K647R,M265V,M73K,N201S,N462D,S107P,S663P,T130S,T94S,V371I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8886 4369 sw10873;dbsnp5714 KTU_HUMAN;NP_060609.2 "C469S,C469Y,D768G,E532G,E62D,G488E,N48K,N528K,T726A,T761A" "0,0,0,0,0,0,0,0,0,0" 55172 2986 sw10874;dbsnp20735;dbsnp20736 TBCC1_HUMAN;NP_060608.1;NP_001127887.1 "F251L,K149R,L264F,Y467C" "0,0,0,0" 55171 5738 sw10876;dbsnp7262 RPC5_HUMAN;NP_060589.1 "A628V,D336E,D509N,D543H,D543Y,E511Q,K682Q,P340S,R120K,S46A,T275M,V308M" "0,0,0,0,0,0,0,0,0,0,0,0" 55718 4002 sw10877;dbsnp21921 SDA1_HUMAN;NP_060585.2 "A490D,E521K,G620A,I113V,K258Q,K473E,K528R,L673W,M533R,M535T,P345R,R601C,R666H,S575C,S595Y,V660I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55153 4192 sw10878;dbsnp29133 TM38B_HUMAN;NP_060582.1 "C254S,G268E,M55V,P250S,R151Q,S241I,V267I" "0,0,0,0,0,0,0" 55151 11075 sw10879;dbsnp11349 CS073_HUMAN;NP_060581.2 "R97C,S106G,V24M" "0,0,0" 55150 14259 sw1087;dbsnp25239 RPP40_HUMAN;NP_006629.2 "D252N,H184R,I148T,N156S,N346I,N98K,Q201H,R236P,S224N,V314I" "0,0,0,0,0,0,0,0,0,0" 10799 9336 sw10880;spmut1461;dbsnp110;hgmd0613_1871 PAPD1_HUMAN;NP_060579.3 "C419R,D39Y,M217V,N478D,P536R,R162C,R423H,S546N,V163I,Y221H" "0,0,0,1,0,0,0,0,0,0" 55149 5383 sw10883;dbsnp6933 HAUS2_HUMAN;NP_060567.1 "F84L,M117T,Q52P,S37F,T76P" "0,0,0,0,0" 55142 12232 sw10884;sws1217;dbsnp8839 NLE1_HUMAN;NP_060566.2 "D13V,D66N,G432S,L295F,P6A,R169K,R16W,R217C,R217S,R367W,S434N,T125M,T76S,V345G,Y406H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54475 6920 sw10885;dbsnp2353 KBTB4_HUMAN;NP_057590.3 "D330N,E210K,E261Q,G384A,G384V,N77S,R156G,R71Q" "0,0,0,0,0,0,0,0" 55709 6079 sw10886;dbsnp14983 NECP2_HUMAN;NP_060560.1 "D111E,D149A,G184R,G78S,P142R,Q262L,R176Q" "0,0,0,0,0,0,0" 55707 11367 sw10887;dbsnp11900 ZN358_HUMAN;NP_060553.4 "A135V,G447V,G455D,K119Q,L512P,N32I,N32S,P520L,P536H,P87L,S493Y,S532P,S545T" "0,0,0,0,0,0,0,0,0,0,0,0,0" 140467 5577 sw10888;dbsnp4274;hgmd0613_1868 RPC2_HUMAN;NP_060552.4 "A5V,D653V,D926E,E258A,I568V,R768H,T503K,T740A,V523E" "0,0,1,0,0,1,1,0,1" 55703 1612 sw1088;dbsnp28952 ZN189_HUMAN;NP_003443.2 "D574N,H599D,K139E,N585S,P64R,Q177R,R221K,R611C,S520G" "0,0,0,0,0,0,0,0,0" 7743 4830 sw10890;dbsnp20549;hgmd0613_1865 ANO10_HUMAN;NP_060545.3 "A601T,D615N,E30Q,L510R,M622V,M652V,P144R,Q25P,R189Q,R263H,R378Q,R462Q,S356G,T561M,V583A,Y217C,Y327C" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 55129 4482 sw10891;spmut670;dbsnp19294 FANCL_HUMAN;NP_060532.2 "D321E,F252C,G372A,L38F,R68P,S144F,T224A" "0,0,0,0,0,0,0" 55120 8985 sw10892;dbsnp11054 AT5SL_HUMAN;NP_060505.2 "C159S,D109G,D174N,E139K,E230K,H23R,N34S,P125A,P4S,R146C,R9C,T218I,Y111C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55101 11631 sw10893;dbsnp14018;dbsnp14019;dbsnp14020;dbsnp14021 TMM51_HUMAN;NP_001129690.1;NP_001129688.1;NP_001129689.1;NP_060492.1 "D168N,D253N,P251L,R92Q,S133N,S174A,V179M,V225I,V34A" "0,0,0,0,0,0,0,0,0" 55092 11844 sw10894;dbsnp8634;dbsnp8635 S52A1_HUMAN;NP_001098047.1;NP_060456.3 "A124V,A210T,A271V,A373V,A410E,A56V,D441H,Q70R,R310H,V296M,V334M,Y308C" "0,0,0,0,0,0,0,0,0,0,0,0" 55065 7631 sw10895;dbsnp13263 SPAT6_HUMAN;NP_061946.1 "C478F,C478S,C478Y,D282Y,E228K,G443S,G95S,L53V,R333W,S457C,V261A" "0,0,0,0,0,0,0,0,0,0,0" 54558 6875 sw10896;dbsnp6759 SLTM_HUMAN;NP_079031.2 "E227K,E707D,E840G,H952Q,S365A,S376I,V235L" "0,0,0,0,0,0,0" 79811 1965 sw10897;sws1218;dbsnp14783 BCD1_HUMAN;NP_060423.3 "G65V,G9R,K368Q,L75R,N468S,R258Q,R279Q" "0,0,0,0,0,0,0" 54680 7206 sw10898 ASND1_HUMAN "G190R,M434T" "0,0" 54529 4665 sw10899;sws1219;spmut1975;dbsnp16459 SMOX_HUMAN;NP_787033.1 "A471S,A72S,H522Y,R192S,R301P,S7R,V435I" "0,0,0,0,0,0,0" 54498 5770 sw1089;dbsnp6610 EIF3J_HUMAN;NP_003749.2 "A141T,M236T" "0,0" 8669 11739 sw108;dbsnp5587 KLH33_HUMAN;NP_001103467.2 "A516T,E345G,G179R,G278R,H96Q,L269V,R163H,R176Q,R204W,S15T,T529N" "0,0,0,0,0,0,0,0,0,0,0" 123103 6087 sw10900;dbsnp9049 CUED1_HUMAN;NP_060419.1 "E126D,P205S,R143Q,R169H,R316Q" "0,0,0,0,0" 404093 8874 sw10901;dbsnp5485;dbsnp5486 FBX34_HUMAN;NP_060413.2;NP_689417.1 "C455Y,G704V,I235V,I470N,L533P,P352S,R297H,S274R,S381R,S469F,S82G,V332I,V432A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55030 3960 sw10902;dbsnp5965 CN118_HUMAN;NP_060396.2 "A355T,A355V,M92V,S290Y,T466A,V132E" "0,0,0,0,0,0" 55668 6965 sw10903;dbsnp6058 CN119_HUMAN;NP_060394.1 "L16V,N112H" "0,0" 55017 14084 sw10904;dbsnp21715 C109B_HUMAN;NP_060388.2 "D99N,I255V,I63N,L202P,M261V,P153L,R320C,R320H,T239K,T239M,Y253F" "0,0,0,0,0,0,0,0,0,0,0" 55013 9992 sw10905;dbsnp10761 PIHD1_HUMAN;NP_060386.1 "D230E,G10E,G248A,M9L,P287L,R243C,V224I" "0,0,0,0,0,0,0" 55011 11098 sw10906;dbsnp4225 PARI_HUMAN;NP_060385.3 "A116S,E380Q,G349V,L31V,L357F,N524S,P333A,Q217K,R161H,R21H,S102I,S102N,V223A,V400M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55010 5433 sw10907;dbsnp17612;dbsnp17613 F118A_HUMAN;NP_001098065.1;NP_060381.2 "A142T,C291S,F18V,G45R,G72R,Q160H,R159Q,R239H,V129L,V210I,V59I,V74I" "0,0,0,0,0,0,0,0,0,0,0,0" 55007 9499 sw10908;dbsnp24937;hgmd0613_1858 RMND1_HUMAN;NP_060379.2 "E286D,H265Q,K110R,K219R,P223L,R362H,R47H,S42I,T132M,T43A" "0,0,0,0,0,0,0,0,0,0" 55005 7612 sw10909;dbsnp10996 ZN446_HUMAN;NP_060378.1 "A178V,G364A,H195Q,H441Q,N192H,P282L,P300S,P324T,P328L,P447L,R217Q,R387H,R421Q,R430H,R46Q,R90Q,S141L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55663 7593 sw1090;dbsnp16975 CBR3_HUMAN;NP_001227.1 "C4Y,D239V,L84V,M235L,P131S,T118I,T202K,V183M,V244M,V93I" "0,0,0,0,0,0,0,0,0,0" 874 11320 sw10910;spmut873;dbsnp363 HIF1N_HUMAN;NP_060372.2 "M160V,P41A" "0,0" 55662 9691 sw10911;dbsnp13955;dbsnp13956;dbsnp13957 AKIP_HUMAN;NP_001120701.1;NP_060370.1;NP_001120702.1 "A122T,E62D,K193R,K199R,Q107H,Q158R,Q57H,T191S" "0,0,0,0,0,0,0,0" 54998 12979 sw10912;dbsnp23415 RM22_HUMAN;NP_054899.2 "G154S,I88V,L9F,N103S,R157C,R198C" "0,0,0,0,0,0" 29093 12836 sw10913;dbsnp7291;dbsnp7292 HPIP_HUMAN;NP_001002018.1;NP_060355.1 "M84V,P92Q" "0,0" 54985 14122 sw10915;dbsnp18637 CB042_HUMAN;NP_060350.1 "A294S,I405T,P176L,P321R,Q314P,Q512H,R345S,R487H,S225F,S293P,T484S,V10L" "0,0,0,0,0,0,0,0,0,0,0,0" 54980 5502 sw10916;spmut2152;dbsnp23291 THG1_HUMAN;NP_060342.2 "A130T,D96V,I99F,L232P" "0,0,0,0" 54974 10915 sw10917;dbsnp21787 CD027_HUMAN;NP_060337.2 "E331D,G82A,G82R,H223R,H91L,I188V,L104V,L312V,R174K,T170M,T98I,V143I" "0,0,0,0,0,0,0,0,0,0,0,0" 54969 9772 sw10919;dbsnp29862;dbsnp29863;dbsnp29864 GEMI8_HUMAN;NP_060326.1;NP_001035945.1;NP_001035944.1 "A31S,E195V,Q74H,V172M" "0,0,0,0" 54960 12079 sw1091;dbsnp5040 LECT1_HUMAN;NP_008946.1 "F116L,I281L,K130Q,Q294P,S315L,V175I" "0,0,0,0,0,0" 11061 10034 sw10920 TM160_HUMAN G120S 0 54958 13208 sw10921;dbsnp11058;dbsnp11059 NALP2_HUMAN;NP_060322.1;NP_001167552.1 "A1052E,A561T,A801T,D492N,D589Y,E1032V,E302Q,E349Q,E350Q,F359L,G884R,H596Y,I1034V,I1042V,I352S,I354V,I532T,L489V,L59F,L920V,L974V,M1061L,M1061V,M227L,M684V,N1028S,P338S,P579L,Q507H,R281G,R281W,R337Q,R364K,R467Q,R576Q,R786Q,S24R,S4L,S629P,T221M,T406R,T424A,T449M,T516A,T529A,T529I,Y555C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55655 1848 sw10922;dbsnp30344 F120C_HUMAN;NP_060318.3 "C638S,E166K,I82T,M931V,M934I,P458S,Q488R" "0,0,0,0,0,0,0" 54954 1728 sw10923;dbsnp22434 COMD8_HUMAN;NP_060315.1 "A174V,A17P,H25P,I169M,I58S,R137Q" "0,0,0,0,0,0" 54951 13311 sw10925;dbsnp1399 RM16_HUMAN;NP_060310.1 "G193R,G29S,R199Q,R207C,R227Q,R250C,R51I,R51K" "0,0,0,0,0,0,0,0" 54948 11893 sw10927;dbsnp16045 CT111_HUMAN;NP_057554.4 "A57V,V147I,V74G" "0,0,0" 51526 11048 sw10928 SOLH2_HUMAN "A339T,S14L" "0,0" 54937 6622 sw10929;spmut128;dbsnp13658 ARHL2_HUMAN;NP_060295.1 "A195S,E209K,G217D,Q168R,R133C,R240H,R358L,Y164C" "0,0,0,0,0,0,0,0" 54936 9345 sw1092;dbsnp20796 SPI2_HUMAN;NP_006208.1 "A145S,E148G,K128N,L6V,M257V,R176W,S8G" "0,0,0,0,0,0,0" 5276 8489 sw10931;dbsnp6382 HYPK_HUMAN;NP_057484.3 "L124R,S105P,T23I" "0,0,0" 25764 14260 sw10932;dbsnp4925 RAB20_HUMAN;NP_060287.1 "M204V,N134S,R29P" "0,0,0" 55647 12256 sw10933 LYAR_HUMAN "D151Y,H265R" "0,0" 55646 9003 sw10934;dbsnp28118;hgmd0613_1848 IMPA3_HUMAN;NP_060283.3 "A102V,D177N,E322K,K286E,T183P,V81G" "0,1,0,0,1,0" 54928 9457 sw10935;dbsnp7310 ZN434_HUMAN;NP_060280.2 "A54V,C395Y,E246K,E334K,G258E,G45C,P134L,P142R,R31W,S100N,S230P,V141F,Y120H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54925 6921 sw10936;dbsnp21172 CKLF6_HUMAN;NP_060271.1 T91A 0 54918 13312 sw10937;dbsnp5479 CN101_HUMAN;NP_060269.3 "A245S,A619T,A646T,E471K,E634Q,G229S,I523T,I552T,L701P,R134C,R134G,R246W,R652H,S223I,S565N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54916 4015 sw10939;spmut1947;dbsnp25111 SIR5_HUMAN;NP_036373.1 "A173T,E299G,E305G,F285L,G117R,R2Q,S178R,T282M" "0,0,0,0,0,0,0,0" 23408 10654 sw1093;dbsnp20793 UPK1B_HUMAN;NP_008883.2 "I80N,L29Q,N137D,N215K,Q113R,R176Q" "0,0,0,0,0,0" 7348 11698 sw10941;dbsnp25026 ELOV2_HUMAN;NP_060240.3 "G93A,L62V,M266T,T216A,V225M" "0,0,0,0,0" 54898 10958 sw10942;dbsnp6484 MTMRA_HUMAN;NP_060232.2 "D727N,E106D,R575W,R648H,V303M,V354D,V354I" "0,0,0,0,0,0,0" 54893 3391 sw10943;dbsnp22175 DCA16_HUMAN;NP_060211.3 "I93T,N45S,S16R,T129I" "0,0,0,0" 54876 12613 sw10944;sws1222;dbsnp7983 ZDHC7_HUMAN;NP_060210.2 "A59V,N247K,V11I,V201I" "0,0,0,0" 55625 9804 sw10945 CNTLN_HUMAN T1376A 0 54875 972 sw10946;dbsnp7858 THUM1_HUMAN;NP_060206.2 "A292V,A33T,D351Y,E311D,K139R,P85S,T322M" "0,0,0,0,0,0,0" 55623 9590 sw10947;dbsnp13416 RN186_HUMAN;NP_061935.1 "A15T,A23T,A64T,E139Q,P120T,P208T,Q59H,R100C,R44Q,V73G" "0,0,0,0,0,0,0,0,0,0" 54546 12391 sw10948;dbsnp3059 M4A12_HUMAN;NP_060186.2 "A10D,C110Y,M97V,N186S,R48C,R48G,V216I" "0,0,0,0,0,0,0" 54860 11548 sw10949;dbsnp7027;dbsnp7028 MPRG_HUMAN;NP_001098024.1;NP_060175.3 "A101V,I24T,L300V,N214S,P7R,R319W,S11N" "0,0,0,0,0,0,0" 54852 9822 sw1094;dbsnp5951 AP1G2_HUMAN;NP_003908.1 "A208V,E204K,E604A,G447W,L373P,P740R,R137Q,R301C,R346Q,R380Q,R458C,R459C,R537H,R563W,R760H,S206R,S377F,T200M,T536I,T569I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8906 3063 sw10951;dbsnp20363 SIDT1_HUMAN;NP_060169.2 "A456S,A560G,D387N,E774K,G23R,G3S,G770R,I655T,K280R,L115R,P32T,R172Q,R172W,R37S,R517C,R734C,R820Q,S274P,T363I,V491I,V637I,V78M,Y602C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54847 3023 sw10952;dbsnp14966 GDAP2_HUMAN;NP_060156.1 "G106S,M161V,P235L,P95R,Q312P,R136H,T437A,T489A" "0,0,0,0,0,0,0,0" 54834 6715 sw10953;dbsnp22962 GIN1_HUMAN;NP_060146.2 "G22C,P243L,T239M,T310A" "0,0,0,0" 54826 6260 sw10954;dbsnp5035 ANR10_HUMAN;NP_060134.2 "A48V,H198Y,I358T,P320L,T289M,T89A" "0,0,0,0,0,0" 55608 8155 sw10955 ING3_HUMAN D20G 1 54556 8208 sw10956;dbsnp12060 QPCTL_HUMAN;NP_060129.2 "L368S,P214L,R161H,R287C,T364M,V349I" "0,0,0,0,0,0" 54814 8941 sw10957;dbsnp6041 KLH28_HUMAN;NP_060128.2 "I349V,N187S,Q401P,Q505H,R321L,R451H,T157S,V328I,V403I,V430I,V474M" "0,0,0,0,0,0,0,0,0,0,0" 54813 5535 sw10959;dbsnp26840 ALKB4_HUMAN;NP_060091.1 "A247V,C26S,E262Q,I166S,R137Q,R239C,R82Q" "0,0,0,0,0,0,0" 54784 10816 sw10960;dbsnp711 NSE4A_HUMAN;NP_060085.2 "G172D,P175L,P231S,R29G,R358H,S72T" "0,0,0,0,0,0" 54780 8894 sw10961;dbsnp29923 SAGE1_HUMAN;NP_061136.2 "A362V,A648P,C754S,D766V,H18R,H387Y,H765Y,I268F,I748T,I867V,L373F,L420F,L805S,M755V,N690I,N741K,P132S,R431G,R431T,S153A,S662C,S67L,T203A,V456I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55511 2596 sw10962;dbsnp24328 DDX43_HUMAN;NP_061135.2 "A438S,A438T,A500V,A60D,A60G,G6E,K625E,N92K,Q629R,R314K,R566W,S20N,T54I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55510 4609 sw10963;dbsnp19935 STAB1_HUMAN;NP_055951.2 "A1572V,A1732G,A1833P,A2485V,A394V,D1570N,D2354N,D2520E,E1355K,E2067K,E2146G,E362K,G1127R,G1337E,G1436R,G1462R,G1586S,H110Y,I2282V,K705M,L1211F,L1602F,L672M,L790I,M2506T,M912V,N998D,P1851S,P2135A,P498S,P644L,P977H,R1019H,R1122Q,R1171C,R1244C,R1480Q,R1536Q,R1536W,R1673L,R1872H,R2310Q,R2439H,R2439P,R2500C,R555C,R952Q,S1089G,S1250L,S1434L,S2079R,S2284N,T1282P,T2116A,T730M,V1522L,V1575M,V2088M,V363M,V967L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23166 220 sw10964;spmut374;dbsnp26832 CLC5A_HUMAN;NP_037384.1 "R141H,V12L" "0,0" 23601 13209 sw10965;spmut1593;dbsnp21106 PP4R2_HUMAN;NP_777567.1 "E301V,P174L,R16K,S282C,S311A,S374Y" "0,0,0,0,0,0" 151987 8241 sw10966;dbsnp3573 GALT8_HUMAN;NP_059113.1 "A337V,D336N,D438G,D630G,E234K,E267G,F312S,G245E,G372W,H409Y,I204V,I581V,M466I,N428S,P46R,Q127R,Q137R,R173Q,R173W,V515F,V611M,Y381C,Y53D,Y53N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26290 4723 sw10967;dbsnp1966;dbsnp1967 DPP3_HUMAN;NP_005691.2;NP_569710.2 "A22V,A267T,A2V,A350T,A61S,E131G,E483D,E642K,E690K,G148R,G597R,H521Y,L163M,L516F,M178T,P210S,Q145H,R20H,R607C,R638Q,R678H,R76H,S668Y,T401M,V347G,V48L,Y268C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10072 3729 sw10968;spmut1882 SCN3A_HUMAN "L1813S,S606T" "0,0" 6328 418 sw10970;dbsnp28403 OBP2A_HUMAN;NP_055397.1 "A56D,D37N,E142K,F90Y,G106R,G130A,G95D,L168P,M159I,M159T,N61K,P133S,R118H,R123C,S17F,T84M,Y124H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29991 13541 sw10971;sws1225;dbsnp22008 ST32B_HUMAN;NP_060871.1 "A290V,D310V,D397E,E226K,E268K,G387R,I364V,K342T,Q390K,R198G,R244H,S393N,T169M,V230A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55351 6899 sw10972;dbsnp29107 GTR8_HUMAN;NP_055395.2 "A274T,A309V,C413W,F457L,G260S,G384S,I253T,R154Q,S193F,V408M,V424M,W418R" "0,0,0,0,0,0,0,0,0,0,0,0" 29988 7062 sw10975;sws1227;dbsnp18708 ETAA1_HUMAN;NP_061875.2 "A921T,C417Y,E673K,F576S,F93C,G439R,I105V,I243T,L926P,M155V,M221T,N525K,P45L,P715L,P771S,R341G,S389N,S753P,S845Y,T650A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54465 2458 sw10976 VNN3_HUMAN "E91K,H33R,T89A,V222A" "0,0,0,0" 55350 6292 sw10977;dbsnp29852 SPNXC_HUMAN;NP_073152.1 "A96E,A96T,D2G,D32Y,E20D,E23K,E74K,I94R,K3Q,L80H,M42I,M42L,M91T,P29S,T24M,T30S,V21A,V59F,V59L,V92A,V92I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64663 14606 sw10978;dbsnp17499 SC5A4_HUMAN;NP_055042.1 "A27T,A287T,A401T,A46T,A649T,C255S,D590G,G80S,H525Y,M283V,N363S,R135W,R259Q,R300H,R336H,R558H,R564W,S252N,S8C,T368M,T4M,V243I,V99I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6527 4348 sw10979;dbsnp18768 SNTG2_HUMAN;NP_061841.2 "A158V,A248T,E50A,G524R,I391V,M284I,M440V,R504M,S168Y,S200L,S204L,T495M,V461M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54221 6001 sw1097;dbsnp11143 CEAM4_HUMAN;NP_001808.2 "H29D,I125T,K69R,L114V,L225F,L24F,P42L,R123L,R123Q,R9H,S106Y,V140I,V145I,V157M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1089 12029 sw10980;dbsnp6540 GOG6A_HUMAN;NP_001033729.2 "A351V,E231K,H483Y,P41T,P517S,T51S,V652D,W200R" "0,0,0,0,0,0,0,0" 342096 4133 sw10981;dbsnp9035 MTMR4_HUMAN;NP_004678.3 "C805Y,E1045D,L170V,R1026W,R1110C,R116Q,R926W,R943Q,S280G,S621N,V297G" "0,0,0,0,0,0,0,0,0,0,0" 9110 1426 sw10982;dbsnp7716 TE2IP_HUMAN;NP_061848.2 "E292K,K324E,K372R" "0,0,0" 54386 8606 sw10983;sws1228;dbsnp8884 DYH9_HUMAN;NP_001363.2 "A1557S,A2100T,A2126V,A2839S,A2839T,A2888V,A3210S,A3311D,A3311T,A3589T,A3630S,A3680V,D1474G,D4036N,D840G,E13D,E1817K,F102S,F3254C,G1140E,G2095R,G2152D,G4214C,G4279S,I1309S,I2316V,I3048V,I3417S,I4165M,K1950R,K2853N,K2961R,K2968N,K3974M,K4281R,L2823M,L3157I,L3692F,M2087V,M4374I,M604V,N1618H,N1907S,N2195S,N4182H,P1706L,P2257L,P337L,P3519T,P3781S,P599L,P70S,Q1580H,Q2390P,Q2438H,Q3916R,Q445R,Q481R,R1158W,R1456W,R151H,R1885H,R2075W,R2144Q,R2162K,R2805H,R2852H,R2852L,R2946W,R3726Q,R3726W,R3815Q,R4261Q,R4309Q,R438Q,R4443C,R524Q,R630C,R630H,R668Q,R771C,R842W,R845Q,R990H,S237P,S2455N,S3357F,S433C,S433P,S4454G,T1221A,T3487M,T3638A,T3784M,T689M,V1115I,V1929M,V2477M,V2486L,V2505L,V2612M,V3118E,V3134I,V3790M,W1198S,W4462R,Y1017C,Y3686C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1770 52 sw10984;sws1229;spmut453;dbsnp5450;hgmd0613_1812 DACT1_HUMAN;NP_057735.2 "A464V,D446N,E294K,E310K,G697S,K349N,L216W,L435P,L618W,Q347H,S628A,Y687H" "0,0,0,0,0,0,0,0,0,0,0,0" 51339 2999 sw10985;dbsnp23776;dbsnp23777 FA53C_HUMAN;NP_001129119.1;NP_057689.1 "C276S,N66H,P239L,Q157H,R21C,R243L,R249W,R83Q,V108L" "0,0,0,0,0,0,0,0,0" 51307 8759 sw10986;dbsnp23760 FA13B_HUMAN;NP_057687.2 "C384Y,D740E,E104K,M748I,M802V,R688H,R832Q,R863Q,S434N,V160A,V448A,V46M" "0,0,0,0,0,0,0,0,0,0,0,0" 51306 2524 sw10987;dbsnp24640 BCLF1_HUMAN;NP_055554.1 "A245V,A756T,E314K,E582D,F394S,G210D,G210S,G446D,G66A,G719A,H516N,K685N,L461H,N629S,P187L,P296A,P497S,P758T,P95L,Q165H,Q82E,R107Q,R111H,R126K,R145H,R298Q,R299G,R3H,R429W,R45M,R47C,R58H,R750L,R862K,R871C,R875C,S102F,S19F,S209C,S228R,S385G,S634L,S753Y,S883N,S884C,T250R,T405R,T425I,Y459D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9774 2496 sw10988;dbsnp20475 ZDHC3_HUMAN;NP_057682.1 "H220Q,H220R,I179V" "0,0,0" 51304 10223 sw10989;dbsnp1575 KCNK4_HUMAN;NP_201567.1 "P328L,R43L,T188M" "0,0,0" 50801 8729 sw10990;dbsnp9160 UTP6_HUMAN;NP_060898.2 "A428D,A428G,E220K,K197T,K35R,L134V,L49I,Q69R,R125Q,R155G,V312A,Y182F" "0,0,0,0,0,0,0,0,0,0,0,0" 55813 5174 sw10993;spmut2091;dbsnp25617;hgmd0613_1727 TAB2_HUMAN;NP_055908.1 "H158Y,H436Q,L195V,P208S,Q230K,R521W,T292A" "0,0,0,1,1,0,0" 23118 4136 sw10994;dbsnp29578 TLR7_HUMAN;NP_057646.1 "A1032T,A448V,E489A,I759V,M603I,P1019L,Q11L,Q11P,T127I,V219I,V222D" "0,0,0,0,0,0,0,0,0,0,0" 51284 1903 sw10995 RM39_HUMAN S31P 0 54148 9597 sw10996;dbsnp16963 EURL_HUMAN;NP_001093890.1 "D136E,N115K,Q117R,Q195H,Y217H" "0,0,0,0,0" 54149 10936 sw10997;sws1230;spmut1251;dbsnp18705 MLTK_HUMAN;NP_057737.2 "A281V,G355D,G449E,K784T,L147M,L147V,P740T,R580W,S531L,T267M,Y773H" "0,0,0,0,0,0,0,0,0,0,0" 51776 3215 sw10998;dbsnp24798 CP39A_HUMAN;NP_057677.2 "C437Y,F307S,G410R,I303L,K329Q,L113F,L17V,M122T,N110D,N324K,R103H,R23P,R27H,R27P,R337H,R389C,S238C,Y288H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51302 7227 sw10999;dbsnp2047 GPR83_HUMAN;NP_057624.3 "D218E,D25N,E417D,K287R,K98N,L108F,P374Q,R221H,R321H,R321L,S361T,T198M,T69S,V312I,Y189C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10888 8091 sw1099;dbsnp22138 GATB_HUMAN;NP_004555.1 "A148S,A232V,A251V,A30D,A46V,E382G,G172V,G9C,L96S,P374L,Q387L,T52A,V236D,V266M,Y294C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5188 5735 sw109;dbsnp7415 VWA3A_HUMAN;NP_775886.3 "C546Y,F1005L,F297V,F716S,G79R,H1021L,I145V,N885S,Q112L,Q1165P,R587K,R661H,S349R,T464I,T657I,T919K,V354M,Y835C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146177 1468 sw10;dbsnp3977 UH1BL_HUMAN;NP_055869.1 "D1223N,D998G,F905I,G1039V,H1281R,H831N,I1010V,I1175V,I306V,L1094V,L236I,L260F,M1111L,N311S,N782D,P1238L,P1328S,P787L,R1393C,R1393H,S1017L,S1058L,S1147L,S1293C,S456N,S524N,T1005I,T1034I,T1462A,T246I,T283I,T743A,Y1151H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23074 875 sw11000;dbsnp13737;dbsnp13738 HAOX2_HUMAN;NP_001005783.1;NP_057611.1 "A76T,A98E,E15K,E15Q,F80Y,L221M,L6V,N245S,R249K,T197I" "0,0,0,0,0,0,0,0,0,0" 51179 9630 sw11001;dbsnp17557;hgmd0613_1670 CELR1_HUMAN;NP_055061.1 "A1019S,A1058T,A1647T,A608T,A747V,A773V,A94T,C1126R,C2797S,D2004N,E1009Q,E1159K,E1499K,E2293K,E2903Q,F2518L,G1346S,G1655A,G2862S,G2948S,I2107V,I2623T,I587V,I869V,L1994P,L1995P,L556V,N1884S,N2739T,P1098L,P1954L,P2385L,P2880L,P2983A,P619R,R1649Q,R1649W,R1740C,R2218Q,R2219H,R2312P,R2438Q,R2460H,R2709Q,R2951W,R322G,R72W,R919W,R973Q,S2665N,S2761L,S2964L,S664W,T1077M,T1289M,T1417A,T1817M,T2045M,T2268A,T346S,T977I,V1242I,V1518F,V1762M,V2703M,V2776M,V673A,V827M,W1958G,Y1894H,Y2684C" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9620 146 sw11002;dbsnp20584 CELR3_HUMAN;NP_001398.2 "A1301E,A157P,A2553T,A2618V,A2792V,A974S,D246Y,D3302H,G128V,G2451R,G2805V,H2504Y,H2865R,I913M,K1624E,M2630I,P2990L,P2990R,P3276L,Q1758R,R1020H,R1158L,R1768H,R2232H,R2468H,R2513C,R2516Q,R2529H,R2639C,R2779Q,R3150Q,R3163Q,R3201Q,R783H,S2336F,S805T,S860R,T1305M,T654M,V1639L,V1783L,V1824M,V2117M,V2438I,V2652I,V2828I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1951 114 sw11003;dbsnp23152 FAT2_HUMAN;NP_001438.1 "A1078T,A2488V,A2700V,A2903P,A2907T,A3383V,A3590T,A3664G,A4305T,A68V,D1513N,D425N,E3851K,E3997K,E4038K,E959G,F1099S,F1602S,F1838L,F2428S,F686S,G1004S,G1400V,G1515S,G1571S,G1636V,G201A,G2054A,G283R,G293D,G4285A,G90D,H2976P,I1881T,I1907T,I2516T,I722T,K672R,L1159M,L1295P,L1326F,L1614V,L2201F,L3514S,M3631I,M584L,N1133K,N2325S,N627S,P1164L,P1220H,P2120S,P2286L,P248S,P4117L,P822S,P899H,Q1158P,Q3953H,R1010C,R1895W,R2146Q,R2409K,R251K,R3318Q,R3318W,R3386Q,R3518H,R368K,R3785Q,R4138W,R4242H,R426K,R574C,R973L,R992Q,S1599G,S1826L,S4155C,T1909I,T2150M,T2870A,T3306I,T3515M,T3942S,T3955P,V1041M,V1457I,V1462M,V1650I,V1849I,V277L,V3004I,V3339I,V3818I,V4056M,V444A,V69M,W1339R,Y1181H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2196 62 sw11004 RDH8_HUMAN "H136Q,M202T" "0,0" 50700 10635 sw11005;dbsnp6033 PLEK2_HUMAN;NP_057529.1 "R144H,R205H,T80M" "0,0,0" 26499 9591 sw11006;dbsnp4936 UGGG2_HUMAN;NP_064506.3 "A323T,A821T,A918T,D1197V,E62G,F1274L,F924I,G1107C,G1369R,H1381R,H596R,H630R,I1403V,K865R,L1006F,L931F,M994L,N1268Y,P175L,Q1095R,Q1497R,R1385W,R356S,R378H,R411C,R480C,R675T,R681H,S328A,S328T,T255A,V140I,V701G,Y1285F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55757 774 sw11007;sws1231;dbsnp9623 CDK12_HUMAN;NP_057591.2 "H116R,I1131V,L1189Q,L447I,L584F,M1218V,M87T,P1275L,P1280L,P530A,R1242G,T1195M,Y259C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 51755 843 sw11008;dbsnp7607 RRN3_HUMAN;NP_060897.3 "C274F,D304N,D392N,D80N,F41I,I162V,I348M,I435M,I435V,I528T,K22N,R302W,R493W,S17L,S199L,V523I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54700 4583 sw11009;dbsnp26015 T2R16_HUMAN;NP_058641.1 "A221V,E17K,I114V,I197V,L116P,L74V,N172K,P161S,R222H,V101M,V15A,V235M" "0,0,0,0,0,0,0,0,0,0,0,0" 50833 11076 sw11010;dbsnp4272 T2R14_HUMAN;NP_076411.1 "C67S,I5M,L201F,N87Y,R209H,R55Q,T86A,W206C" "0,0,0,0,0,0,0,0" 50840 10476 sw11011;sws1232;dbsnp3405 T2R13_HUMAN;NP_076409.1 "H94R,M183V,N259S" "0,0,0" 50838 10799 sw11012;dbsnp3334 T2R10_HUMAN;NP_076410.1 "I234N,K174T,M207V,N112T,S231P,T156M" "0,0,0,0,0,0" 50839 10716 sw11014;dbsnp3790 TA2R8_HUMAN;NP_076407.1 "A306S,E228D,G221S,G25V,I111T,L48F,M308V,R166G,R55I,T184I,W124G,Y277H" "0,0,0,0,0,0,0,0,0,0,0,0" 50836 10673 sw11015;dbsnp3338 TA2R7_HUMAN;NP_076408.1 "A180S,I212V,I85T,M304I,S296C,T263M,T263S,V196E,V61I" "0,0,0,0,0,0,0,0,0" 50837 10442 sw11016;dbsnp26185 TA2R5_HUMAN;NP_061853.1 "C296W,G20S,N124D,N40S,P113L,R213Q,R294L,R55Q,R79C,S26I,Y167C" "0,0,0,0,0,0,0,0,0,0,0" 54429 10885 sw11017;dbsnp26207 TA2R4_HUMAN;NP_058640.1 "A135P,F62L,F7S,I191V,I240V,L25P,L4S,R3Q,S171N,T222M,T74M,V226I,V96L,Y6S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50832 10886 sw11018;dbsnp22970 TA2R1_HUMAN;NP_062545.1 "A148S,C141Y,F75V,G214R,P223S,P43L,R111H,R206W" "0,0,0,0,0,0,0,0" 50834 10887 sw11019;dbsnp26625;dbsnp26626 RBAK_HUMAN;NP_001191385.1;NP_066986.1 "C653R,D500N,E179K,E346K,G229E,H135R,H529P,N106S,N247S,N682K,P74A,S560N,V56I,Y233C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57786 3930 sw11020;dbsnp15065 IL20_HUMAN;NP_061194.2 "G31R,R107Q,R124W,R50G" "0,0,0,0" 50604 13437 sw11021;sws1233;spmut1566;dbsnp24046 PLK2_HUMAN;NP_006613.2 "A13S,E436K,H60D,P487L" "0,0,0,0" 10769 4218 sw11022;dbsnp18702;dbsnp18703;dbsnp18704 FAKD2_HUMAN;NP_001129666.1;NP_001129665.1;NP_055744.2 "A698V,D364N,E264D,K50R,N396S,N673S,R201H,R205P,S10T,S119F,S15N,S593L,V445E,V479L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22868 3972 sw11023;dbsnp9767 F18B1_HUMAN;NP_057162.4 G55E 0 51030 11348 sw11024;dbsnp27600 MFRN1_HUMAN;NP_057696.2 "A248S,I87V,R96Q" "0,0,0" 51312 9949 sw11025 GTSE1_HUMAN S303N 0 51512 3714 sw11026;sws1234;dbsnp11476 SIGL8_HUMAN;NP_055257.2 "E33K,G129R,G13R,I192T,I409V,K407N,N489S,R388G,R95Q,S167A,S170P,S244F,S438L,S471L,T251I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27181 5196 sw11027;hgmd0613_2270 TECR_HUMAN P182L 1 9524 9349 sw11028;spmut617;dbsnp22933;dbsnp22934 ERAP1_HUMAN;NP_001185470.1;NP_001035548.1 "A187G,D406E,D575G,D575N,E56K,G161R,G346D,G514R,H68Y,I276M,I649T,I839T,I915T,K528R,M349V,Q730E,Q851K,R127P,R636Q,R725Q,T12I,V265I,V588G,V647I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51752 2285 sw1102;dbsnp16083 ATRN_HUMAN;NP_647537.1 "A96V,C1005G,D303A,E745G,G1098S,G989S,I1093V,I426T,I451M,K1365R,L836F,M753I,N877D,N911S,Q165L,R1152K,R1311S,T268S,V1226I,V459L,V602A,Y535F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8455 939 sw11030;spmut1446;dbsnp17474 PA2G3_HUMAN;NP_056530.2 "A255V,E116Q,G266S,H307Y,H89Q,L157V,L428P,L464F,M484R,P430S,R272H,R378Q,S322R,S70A,V37I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50487 6489 sw11031 USE1_HUMAN L154S 0 55850 11723 sw11032;spmut1505;dbsnp21051 PDXL2_HUMAN;NP_056535.1 "A294T,E287K,E319K,G226R,K148E,L275F,L306V,P201R,P255L,P321A,Q202R,V456A" "0,0,0,0,0,0,0,0,0,0,0,0" 50512 5081 sw11033;dbsnp14050 FMN2_HUMAN;NP_064450.3 "A1028V,A1691V,A458T,A952G,G941A,G941R,I953M,K420T,L1237V,L1271F,L1375I,L451Q,L934P,M886R,P1207A,P1265L,P235S,P653L,P858T,P859S,P912S,P923L,P943L,P945L,P947L,P947R,P947S,P958L,P977L,Q192L,R1148G,R1291G,R1468H,R453Q,R456G,R734W,S1540L,T864A,V1105A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56776 615 sw11034;dbsnp29481 CI078_HUMAN;NP_057604.1 "Q70H,V58I" "0,0" 51759 11125 sw11036;dbsnp30022 NLGN3_HUMAN;NP_851820.1 R451C 1 54413 2909 sw11037;dbsnp24415 CLIC5_HUMAN;NP_001107558.1 "A121T,A273E,E318D,E4K,F250I,G329R,P257H,Q100L,R268Q,R331Q,R79S,T114A,T301I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 53405 8384 sw11038;dbsnp29367 F120A_HUMAN;NP_055427.2 "A832S,G443S,P872L,R232C,S1033A,Y327H" "0,0,0,0,0,0" 23196 1664 sw11039;spmut1258 MOCS1_HUMAN "P390H,R452L" "0,0" 4337 4734 sw1103;dbsnp9167 TNF13_HUMAN;NP_003799.1 "A38V,G67R,N96S,V22L" "0,0,0,0" 8741 10151 sw11041;dbsnp7497 GDE1_HUMAN;NP_057725.1 "E328K,R218Q,S66F" "0,0,0" 51573 10116 sw11042;dbsnp2307 EHF_HUMAN;NP_036285.2 "A96V,H61N,T30M,T65S" "0,0,0,0" 26298 10353 sw11043;sws1236;spmut2376;dbsnp7660;hgmd0613_1803 WWOX_HUMAN;NP_057457.1 "A179T,D183N,E45D,H147R,H205N,L216V,L272F,P252A,P282A,P98L,R120W,R314H,R333H,S413Y,T111S" "0,0,0,0,0,0,0,0,0,0,1,1,0,0,1" 51741 8298 sw11045;dbsnp3860 GPC5D_HUMAN;NP_061124.1 "A18D,A305D,C273W,G194D,G315D,L102R,M156K,N249S,T248I" "0,0,0,0,0,0,0,0,0" 55507 9795 sw11047;dbsnp18010 RM35_HUMAN;NP_057706.2 "A24T,A80P,H48N,L115F,P19S,P81L,R29H,V82L,V82M,Y180C" "0,0,0,0,0,0,0,0,0,0" 51318 13210 sw11049;dbsnp18602 IL37_HUMAN;NP_055254.2 "D218N,G13D,G31V,N54S,P108L,P50R,R152W,T42A,W164R" "0,0,0,0,0,0,0,0,0" 27178 12571 sw1104;sws121;dbsnp20142 AL1L1_HUMAN;NP_036322.2 "A436T,A436V,A835S,D793G,E429A,E803K,G23D,H657R,I812V,K876R,L254P,P107L,R333Q,R725G,R99Q,S344F,S448N,S481G,T789A,V330F,V357I,V409M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10840 2478 sw11050;dbsnp19226 IL36B_HUMAN;NP_055253.2 "G90S,I110V,I158V,Q79H,R36C" "0,0,0,0,0" 27177 13644 sw11051;dbsnp18786 IL36G_HUMAN;NP_062564.1 "K62E,P111S,Q69K" "0,0,0" 56300 13559 sw11052;dbsnp18558 GRHL1_HUMAN;NP_937825.2 "A480G,I464T,N191S,N250S,N346I,N346S,S344G,V397I" "0,0,0,0,0,0,0,0" 29841 4846 sw11053;dbsnp20521;dbsnp20523 UBIP1_HUMAN;NP_055332.3;NP_001121633.1 "H79Y,M153V,N109S,T212A" "0,0,0,0" 7342 5991 sw11054;spmut547;dbsnp13893 DTL_HUMAN;NP_057532.2 "A436E,A436V,E725A,H714R,K694T,K708R,N4S,R548G,S425N,T424M,V489I,Y252H,Y628C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 51514 3781 sw11057;dbsnp24971 COQ3_HUMAN;NP_059117.3 "A82V,C358Y,E96G,G348E,H118R,K134E,S272G,S296L,S33F,T25K,T66M,V202M,Y329H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 51805 9226 sw11058;spmut334;dbsnp17494 CECR1_HUMAN;NP_059120.2 "A35V,E489D,E489Q,F355L,G348D,H335R,I462T,M243I,M309I,M84V,R171W,T65M,V125G,V349I,V418L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51816 6455 sw11059;dbsnp11273 ZN224_HUMAN;NP_037530.2 "E376Q,H162L,H506D,I72V,K342N,K438N,K569R,K640E,M118V,Q274H,Q447H,R335H,R538K,R61G,S214N,S385L,S385P,T177A,T177M,T311M,Y260C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7767 4016 sw1105;dbsnp18291 ST1C4_HUMAN;NP_006579.2 "D5E,E66V,E90K,I68M,P81R,R110Q,R79W,V277M" "0,0,0,0,0,0,0,0" 27233 10725 sw11060;dbsnp24005 MAT2B_HUMAN;NP_037415.1 "A177S,A293T,I324T,T302I" "0,0,0,0" 27430 10044 sw11061;dbsnp383 MYOF_HUMAN;NP_038479.1 "A1864V,D1889E,D1979N,D342N,G1701A,L1249F,L730V,N1754D,P1514T,P1539S,R1399C,R1426W,R1525W,R1783Q,R1783W,R621C,S1233T,S98T,T308S,T548I,T705M,T928M,V1136I,V224D,Y1198F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26509 396 sw11062;dbsnp18541 ITSN2_HUMAN;NP_006268.2 "A1534T,A393V,E437D,G893A,I1022T,I1206V,I1287T,I340V,K1553Q,L1343I,M1668V,M683I,N1456S,N655K,P1283L,P133S,P13T,R1272W,R1337W,R1554H,R441K,R459H,S1363T,S887Y,T254A,V291I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50618 644 sw11063;dbsnp12010 GSCR1_HUMAN;NP_056526.3 "A313P,A759V,G279S,G91S,P282S,P439T,P683S,Q1192H,R1206C,T1044A,V187M" "0,0,0,0,0,0,0,0,0,0,0" 29998 770 sw11064;dbsnp10770 GSCR2_HUMAN;NP_056525.2 "D31H,D401A,P205R,P225S,P82A,Q389R,R190W,R224Q,R227C,S16R,S20F,S427L,S6R,V134I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29997 7040 sw11066;dbsnp30546 IRPL1_HUMAN;NP_055086.1 "I643V,K379R,Q618H,T637S,V372I,Y214F" "0,0,0,0,0,0" 11141 4112 sw11067;dbsnp11890 EHD2_HUMAN;NP_055416.2 "G57S,G9R,I348V,K448N,P15S,P336S,P48L" "0,0,0,0,0,0,0" 30846 5949 sw11068;dbsnp1542 ARHGC_HUMAN;NP_056128.1 "D1158V,I365M,I864M,P231S,R509Q,R647H,Y1306C,Y973F" "0,0,0,0,0,0,0,0" 23365 782 sw11069;dbsnp4125;dbsnp4126;dbsnp4127 CNOT2_HUMAN;NP_001186232.1;NP_001186231.1;NP_055330.1 "A460T,S99N" "0,0" 4848 5992 sw1106;dbsnp28948 GABR2_HUMAN;NP_005449.5 "I224V,L163P,R435K,R797H,T869A,Y628F" "0,0,0,0,0,0" 9568 2384 sw11071;dbsnp3934 OR6C3_HUMAN;NP_473445.1 "A234S,D164H,D164Y,G105A,G250E,I219F,K295I,M133T,N300S,S148T,S69L,T88S,V194I,V73I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254786 10547 sw11072;dbsnp4114 OR6C2_HUMAN;NP_473446.1 "A298V,I154V,I244T,I43T,K259R,L209P,N82S,P181A,V266E,Y218D" "0,0,0,0,0,0,0,0,0,0" 341416 10547 sw11073;dbsnp20623 O5AC2_HUMAN;NP_473447.1 "A97P,G66D,M200I,N53K,Q145H,S293R,V223M" "0,0,0,0,0,0,0" 81050 10270 sw11074;sws1240 CO002_HUMAN "A757T,G253R,N282S,P343A,P34Q,Q406E,T929P,V212A,W152R" "0,0,0,0,0,0,0,0,0" 23742 1537 sw11075;spmut246;dbsnp3874 C1RL_HUMAN;NP_057630.2 "A203T,C36Y,C94R,G105S,G206R,I285V,L303V,M311L,R368C,V375I,V375L,V439I" "0,0,0,0,0,0,0,0,0,0,0,0" 51279 6889 sw11076;dbsnp20692 SPN90_HUMAN;NP_057537.1 "A581T,D157N,E329K,H633Y,K605R,L160P,M658V,P551S,P611R,P625Q,R106C,R176Q,R645W,T324S,V255M,Y660S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51517 3862 sw11077;dbsnp1561 TRPM5_HUMAN;NP_055370.1 "A1143P,A364T,A456T,C227W,D165G,D687E,E27K,G1136S,G171D,G900S,H147Y,H311Q,I647V,K1090E,K206M,L1150F,M80T,N235S,R1026Q,R1079L,R1079Q,R1130W,R18G,R360H,R424H,R500Q,R578Q,R602Q,T1023M,T688M,V1119M,V254A,V335L,V660I,V965F,W1153R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29850 1514 sw11078;dbsnp14520 TMOD4_HUMAN;NP_037485.2 "A121G,A222G,E260K,G323R,M332V,N336S,R325Q,S162T" "0,0,0,0,0,0,0,0" 29765 9468 sw11079;dbsnp6936 TMOD2_HUMAN;NP_055363.1 "D150N,P63A,Q320R,R108L" "0,0,0,0" 29767 10536 sw1107;spmut1253 MMP23_HUMAN F91L 0 8510 8793 sw11080;dbsnp18356 LRP1B_HUMAN;NP_061027.2 "A2412S,A3178T,A3469T,A3816V,A4563T,C2903G,D1063N,D3012G,D3134G,D4377N,D546V,D822E,E1046G,E234G,E3458K,E4054A,E71K,F1295C,G1087S,G2474S,G2963S,G3615A,G3622A,G3743S,H3296R,H4327Q,I1967M,I669V,I731M,I844M,K1236N,L325F,M131I,M2897V,N1298S,N3487Y,N3562K,N4372Y,N4559S,P4016L,P4480S,Q3140R,Q3734K,Q48R,R1581H,R1661C,R2219C,R2219H,R2373H,R2563H,R2772H,R3157C,R3559W,R3649T,R3783Q,R4166H,R4350G,R4428S,R636Q,S2890P,S3989F,S449T,T1043S,T1909S,T2119M,T2435I,T369A,T3939S,T4298S,V2146F,V2456I,V4109I,V4264L,V437I,V4461L,V929L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 53353 47 sw11083;dbsnp7878 BFAR_HUMAN;NP_057645.1 "G24D,G24V,M140R,R245H,V148M,V251M,V315I" "0,0,0,0,0,0,0" 51283 7594 sw11084;dbsnp665 CALL5_HUMAN;NP_059118.2 "A36V,G26S,K42R,K74R,R124C,S58C,S58G" "0,0,0,0,0,0,0" 51806 13999 sw11085;dbsnp16516 OGFR_HUMAN;NP_031372.2 "A480T,E430D,E576K,E636K,G466A,G658R,H302Y,M60K,R348W,R545S,R651G,S519L,S525R,S577T,S637T,S639L,S645R,T150M,T426M,T650A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11054 4297 sw11086;sws1241;dbsnp16453;dbsnp16454 FLRT3_HUMAN;NP_938205.1;NP_037413.1 "A377T,A383G,A39E,A4T,E460D,H400Q,P598S,Q378H,R317H,W381R,Y274C,Y551F" "0,0,0,0,0,0,0,0,0,0,0,0" 23767 4331 sw11087;dbsnp19054 CRIM1_HUMAN;NP_057525.1 "A956V,D352G,E502K,H412P,I529M,M351I,N406S,P856S,Q962H,R350Q,R533H,S868G,T702P,V446L,V781I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51232 1958 sw11088;dbsnp13756;hgmd0613_1944 SELN_HUMAN;NP_065184.2 "A195T,C142Y,G273E,G315S,G463V,H293R,N340I,N502K,R466Q,R469Q,R469W,R582Q,T137A,W453S" "0,0,1,1,1,1,1,0,1,1,1,0,0,1" 57190 5264 sw11089;dbsnp11309;dbsnp11310;dbsnp11311 ZIM2_HUMAN;NP_001139799.1;NP_001139798.1;NP_056178.3 "A110T,C358R,D17N,D87G,E85K,F34S,G472D,H116Q,L206M,N117S,P301L,Q408R,R335Q,R38Q,R38W,R402H,R473K,R96P,T339M,T78K,V461I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23619 6178 sw1108;dbsnp4016 RASF9_HUMAN;NP_005438.2 "A285T,D301E,R166W,R84T" "0,0,0,0" 9182 7853 sw11091;dbsnp29509 CHMP5_HUMAN;NP_057494.3 "K46T,S86P" "0,0" 51510 12550 sw11092;dbsnp14640 CNIH4_HUMAN;NP_054903.1 "A3G,D12G,G54S,L134V" "0,0,0,0" 29097 14103 sw11094;dbsnp6585 HACD3_HUMAN;NP_057479.2 "E56K,F327L,M269L,R278C,R353C" "0,0,0,0,0" 51495 9365 sw11095;dbsnp11496 KLK14_HUMAN;NP_071329.2 "D219G,H45Y,N118S,Q33R,R109C,R122W,R138W,R64H" "0,0,0,0,0,0,0,0" 43847 11549 sw11097;dbsnp26237 ADA22_HUMAN;NP_068369.1 "E128K,H119Y,P81R,V207I,V45M" "0,0,0,0,0" 53616 2581 sw11099;dbsnp3739 FOXJ2_HUMAN;NP_060886.1 "A354V,N247S,P130S,P229R,P310S,P369L,R494H,S315A" "0,0,0,0,0,0,0,0" 55810 5503 sw1109;dbsnp3728 SOAT2_HUMAN;NP_003569.1 "A357D,A431S,A431T,C132Y,E116K,E14G,E235Q,G260V,H434Q,L414P,R412Q,R417Q,R7P,T254I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8435 6254 sw110;dbsnp11672 CS071_HUMAN;NP_001129052.1 "A137V,D166N,K140Q,P201L,P83L,R114Q,R176C,T65S" "0,0,0,0,0,0,0,0" 100128569 12760 sw11100;dbsnp10372 VAPA_HUMAN;NP_919415.2 M8T 0 9218 11012 sw11101;dbsnp20791 ZN167_HUMAN;NP_061121.2 "A254V,D386G,E359K,F153S,G361W,N498S,N694K,P550L,R24C,R512G,R512Q,R562W,S73I,S746F,T342I,T432A,T483I,Y551F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55888 3578 sw11102;sws1242;spmut1179;dbsnp14639 MARK1_HUMAN;NP_061120.3 "A541P,E691G,G682R,K455N,N355T,P578L,R645G,T51A,V530M" "0,0,0,0,0,0,0,0,0" 4139 3250 sw11103;dbsnp349 PK2L1_HUMAN;NP_057196.2 "A449S,A449T,A788D,G76C,I108T,K656E,M555I,N313S,P48R,Q658L,R201W,R206C,R206H,R217W,R278Q,R286Q,R378W,R380C,R413Q,R472C,R651C,R681L,R796C,R796H,S123T,T469M,T543A,V345D,V393I,V487G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9033 2244 sw11104;dbsnp24563 AKA7G_HUMAN;NP_057461.2 "A147S,C14R,E114K,E26K,E334K,G211R,H163Y,I57V,K227R,L136F,P167L,Q134R,R232H,R259C,S191L,S215N,S34F,Y87C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9465 9714 sw11105;dbsnp7866 IL17C_HUMAN;NP_037410.1 R25G 0 27189 13035 sw11106;dbsnp9583 RM27_HUMAN;NP_057588.1 "R71C,T24A,T69K,V133M" "0,0,0,0" 51264 13951 sw11107;dbsnp3237;hgmd0613_721 TM216_HUMAN;NP_001167461.1 "G77A,L114R,L89F,R73C,R73H,R73L,Y34C" "1,1,1,1,1,1,0" 51259 13954 sw11108;dbsnp11150;dbsnp11152 MARH2_HUMAN;NP_001005415.1;NP_057580.3 "A180V,A241T,A54P,A54T,R219P" "0,0,0,0,0" 51257 11839 sw11109;dbsnp24364;dbsnp24365;dbsnp24367 TBCD7_HUMAN;NP_001137437.1;NP_001137436.1;NP_057579.1 "A136T,A138D,A198E,A198V,I154S,L67W,V149A" "0,0,0,0,0,0,0" 51256 11026 sw1110;dbsnp15224 DHRS3_HUMAN;NP_004744.2 "A280T,R56C,S131G,V2A" "0,0,0,0" 9249 10811 sw11110;dbsnp17979 RN181_HUMAN;NP_057578.1 "D125N,R131K,T57S,Y118H" "0,0,0,0" 51255 13862 sw11111;dbsnp25614;dbsnp25615 TM14C_HUMAN;NP_057546.1;NP_001158730.1 "F108L,H112D,I27V,L91V,N109I,S106N,S106R,S56Y" "0,0,0,0,0,0,0,0" 51522 14484 sw11112;spmut1892 SENP1_HUMAN "A280T,D350G,I193V" "0,0,0" 29843 4654 sw11113;spmut1924;dbsnp18646 SH3B4_HUMAN;NP_055336.1 "A197T,D586H,E28K,E350K,E446K,E734K,M155T,N471H,N471S,N811S,P231L,P613A,R511C,R511L,R726W,R788W,R7Q,V530I,V962M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23677 2267 sw11114;dbsnp13852 SLAF8_HUMAN;NP_064510.1 "A38V,C146F,G183R,G91R,G99S,L119I,M246V,P5T,R39H,T215M,V129M,V234E" "0,0,0,0,0,0,0,0,0,0,0,0" 56833 11190 sw11115;dbsnp18731 SEP10_HUMAN;NP_653311.1 "E156K,G45S,I61V,K273N,L189P" "0,0,0,0,0" 151011 6955 sw11116;dbsnp28440 IFNK_HUMAN;NP_064509.2 "I97N,K133E,L45P,V35A,Y88C" "0,0,0,0,0" 56832 12813 sw11117;dbsnp20513 SCHI1_HUMAN;NP_055390.1 "A481V,E101K,R107S,T10M,V395I" "0,0,0,0,0" 29970 5644 sw11119;dbsnp17311 CAC1I_HUMAN;NP_066919.2 "A481S,D302G,G1782A,G1782R,G2190S,H505N,I1040V,L1801M,P7L,Q1193H,R307H,R464H,T1401I,T1513M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8911 329 sw1111;dbsnp26749 DGKI_HUMAN;NP_004708.1 "E906D,I935L,K227R,L153F,R889Q,V217I" "0,0,0,0,0,0" 9162 1666 sw11120;dbsnp10784 GMIP_HUMAN;NP_057657.2 "A216T,A642S,A730T,D467E,D641N,E202G,E824K,G843R,G92E,N34K,P419L,P419R,P561L,P798S,R699Q,R905K,S105I,S774I,T446M,T59I,V619I,Y872F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51291 2239 sw11121;dbsnp23438 GCNT4_HUMAN;NP_057675.1 "I153V,P439S,V321F,V321I,V321L,Y164C" "0,0,0,0,0,0" 51301 7531 sw11122;spmut372;dbsnp3331 CLC1B_HUMAN;NP_057593.3 "G64D,I20V,R15W,S24P,S28F,V42M" "0,0,0,0,0,0" 51266 12344 sw11123;dbsnp29779 LUZP4_HUMAN;NP_057467.1 "D32N,E122A,E284Q,H226R,I274M,I274V,K257R,P14S,S211A,T306A,V275A" "0,0,0,0,0,0,0,0,0,0,0" 51213 10585 sw11124 DLGP2_HUMAN "P419Q,T620M" "0,0" 9228 1878 sw11125;dbsnp18991 VPS54_HUMAN;NP_057600.2 "F19S,H851R,K500E,L664F,M353V,M585T,M912I,N180K,Q836R,S561C" "0,0,0,0,0,0,0,0,0,0" 51542 2198 sw11126;dbsnp8692 OR1A1_HUMAN;NP_055380.2 "G232D,P285S,P79T,R128H,T245K,T245M,T277M,T99M,V233M" "0,0,0,0,0,0,0,0,0" 8383 10504 sw11127;dbsnp25279;dbsnp25280 RPA12_HUMAN;NP_055411.1;NP_740753.1 "Q14H,R89G" "0,0" 30834 14313 sw11128;dbsnp26218 ARP3B_HUMAN;NP_065178.1 "A261V,E218G,P412A,R250Q,R250W" "0,0,0,0,0" 57180 8209 sw11129;dbsnp5608 SAM15_HUMAN;NP_001010860.1 "A154P,E152V,E219K,E283D,E393K,E469D,F540I,G277S,I472T,K370E,K454E,L18P,L462I,M168I,M1R,M40T,R307Q,R615C,S353P,V288I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 161394 4329 sw11130;dbsnp5677 TM63C_HUMAN;NP_065164.2 "A543T,F347L,M654V,R298H" "0,0,0,0" 57156 3168 sw11131;dbsnp16392 SIRPG_HUMAN;NP_061026.2 "A338V,H9Q,L152S,L23H,L300F,R342C,S108N,S286L,S286P,S298L,T199K,T54I,V263A,V64I,W66L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55423 6578 sw11132;dbsnp30285 PIM2_HUMAN;NP_006866.2 "G138D,H215R,I280V" "0,0,0" 11040 8499 sw11133;dbsnp11557 CAMP3_HUMAN;NP_065953.1 "E732K,L938M,P335S,P508T,R357C,T749M" "0,0,0,0,0,0" 57662 1213 sw11135;dbsnp8701;dbsnp8702 ZBTB4_HUMAN;NP_001122305.1;NP_065950.2 "A283T,A539V,A720S,A807T,D651E,D813G,E790G,E790V,G749S,G812R,M550I,N561S,P798S,R906Q,S196L,S939G,Y337S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57659 2054 sw11136;dbsnp3856 CACO1_HUMAN;NP_065949.1 "A527T,E308Q,E457G,G561V,I218V,K425N,P114S,P560R,R12H,R160W,R316Q,R393K,R8Q,T639P,V69M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57658 4157 sw11137;dbsnp14662 HCN3_HUMAN;NP_065948.1 "I255T,K69R,M465I,P630L,R162G,R162W,R383H,R411H,R445C,R481W,R499M,R583W,R588Q,R766Q,V334I,V461M,V475M,Y511C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57657 1410 sw11138 CI174_HUMAN L373H 0 100499483 641 sw11139 WHRN_HUMAN "A440T,H752Q,M613T,N796K,P562A,R364H,V783A" "0,0,0,0,0,0,0" 25861 2577 sw11140;dbsnp13042 K1522_HUMAN;NP_001185901.1 "A632G,E1021K,E228D,F4V,L310I,M232V,P278S,P57S,P623S,P770L,R156P,R433H,R8C,S114P,S761F,V815I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57648 1736 sw11141;dbsnp23092 CEP72_HUMAN;NP_060610.2 "A182T,G228D,H519R,K629E,L317F,M304V,N64H,P238L,P412T,R137C,R487H,R497W,R63H,S226C,S607R,T509A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55722 4619 sw11143;dbsnp15564 ZSWM5_HUMAN;NP_065934.1 "D1164Y,D776N,H429Y,P142S,Q1153R,R265C,R373W,S905C,V368G,V646A,V784M,V892M" "0,0,0,0,0,0,0,0,0,0,0,0" 57643 1380 sw11144;dbsnp16098 COKA1_HUMAN;NP_065933.2 "A792P,M1269I,M1269T,P134L,R250H,R551H,T612M,V568M" "0,0,0,0,0,0,0,0" 57642 1196 sw11145;dbsnp5468 DAPLE_HUMAN;NP_001073883.2 "A1028V,A1068S,A1443T,A663S,A749V,A811E,F1558S,G108S,G1983A,L1217M,L1992P,L637V,M1310V,P2018L,Q1140R,R1058Q,R1630H,R1659Q,R735H,S1513L,S452L,Y1545C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440193 412 sw11146;dbsnp9065 DYH2_HUMAN;NP_065928.2 "A100V,A1058T,A1100V,A1237T,A156P,A1670V,A2214V,A2659V,A316V,A3542T,A3562V,A4159T,D1079G,D1239E,D1504N,D1996N,D2029A,D2210N,E1213K,E1326G,E3016D,F4232L,G3564S,H1161L,H202P,H3430N,I1351T,I1657V,I1717N,I2363T,I3555F,I4062L,K297R,K625E,L1203I,L2679I,L4101F,M1617T,M249I,M3858V,M3860I,M961T,P1500L,P1605S,P1995L,P3361A,P3967S,P4325R,P815S,Q2239R,Q2905R,R1063C,R1190W,R1251Q,R1270H,R1307W,R1417H,R1448H,R1626W,R1912C,R1978H,R2548H,R2564C,R2793W,R2904C,R2904H,R3365W,R3465Q,R3524Q,R3608C,R3651H,R3681H,R3788Q,R3863C,R3923C,R4255Q,R439Q,R921C,S1736F,S2076P,S312T,S3284L,S4022N,S883L,T1782M,T2060M,T3362I,T3575M,T3600I,T3674P,T857A,V2048I,V2471M,V2761M,V3522M,V4357D,Y1385C,Y516H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146754 57 sw11147;dbsnp19996 CNTN3_HUMAN;NP_065923.1 "H625R,H75D,K246E,N489T,N708S,R636W,R841Q,R867Q,R867W,S243L,S626R,S630N,T657M,T758S,T901M,T936K,T977A,V1019I,V604M,V646I,V662A,V676L,V950I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5067 1710 sw11148;dbsnp21810 AT10D_HUMAN;NP_065186.3 "A1392G,A337T,A601T,C171R,E1394K,F1087L,F522L,K608R,M414I,N249D,N511S,N720S,N74S,P716T,R1030Q,R1183K,R13Q,R170Q,R182H,R266H,R665P,R665Q,R994Q,S1389T,S959N,T320I,T43I,V1147A,V1240I,V752A,Y30C,Y30S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57205 885 sw11149;dbsnp18680 NYAP2_HUMAN;NP_065915.1 "G126D,G126S,N51K,T205A,T586P" "0,0,0,0,0" 57624 4559 sw11150;dbsnp27864 ZFAT_HUMAN;NP_065914.2 "A679T,D329N,E1167K,G64R,K921R,P102S,P105L,P173A,P549S,R546W,R672K,R828K,S470C,T1175R,V581M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57623 1303 sw11151;dbsnp11543 ZN492_HUMAN;NP_065906.1 "A205S,A270T,C314Y,C339Y,C370S,C76R,E201Q,F364L,F364S,G165R,G231D,K519N,L321I,N61H,P336T,R260K,R51Q,R70T,S164T,T106K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57615 1203 sw11152;dbsnp3620 DIP2B_HUMAN;NP_775873.2 "D265N,G1510S,I1477M,I792V,Q919K,R1345K,R484W,R634Q,S1115F,S230A,S354P,S492Y,T349S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57609 757 sw11153;dbsnp274 JCAD_HUMAN;NP_065899.1 "A1095G,A142T,D112N,D494N,E24K,E487D,E729A,G369S,K165N,N26K,N601H,P1134L,P350L,P999L,R957G,S1002T,S1214Y,S1307T,S591L,S991F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57608 1051 sw11154;spmut1190;dbsnp18745 MBD5_HUMAN;NP_060798.2 "A655T,A857T,D654E,D654G,D654V,G79E,I1104V,I752V,P1476Q,Q1015R,Q834H,R1299Q,R200Q,R461H,R657W,S677N,T1048I,T144I,T352I,V869I" "1,1,1,0,0,0,0,0,0,0,0,0,0,1,0,0,1,1,0,0" 55777 836 sw11155;dbsnp27370 K1456_HUMAN;NP_065895.2 "C197S,C207F,C207G,G304A,G304E,G304V,H150R,H337L,I265T,P219T,P370A,R248C,R248L,R451G,S172T,S246P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57604 7509 sw11156;dbsnp22079 TEN3_HUMAN;NP_001073946.1 "A1756V,A28T,A548T,E1748G,G588A,M1304T,N2108T,R1668Q,R1888C,R2228C,S202P,S385C,T1369A,T1517A,T160K,T695M,V1194M,V1230I,V2577M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55714 180 sw11158;dbsnp21938 FNIP2_HUMAN;NP_065891.1 "A396G,A476S,K511E,M1062V,M677T,R741Q,S301P,S551R,T298S" "0,0,0,0,0,0,0,0,0" 57600 1680 sw11159;dbsnp9236 BAHC1_HUMAN;NP_001073988.2 "A1994T,A272T,A734T,E477K,G1092R,G1246R,G694S,G741S,K2055E,L637F,P2249L,R1062H,R1403Q,R2200Q,R2377H,R2440W,R2479C,R2574Q,S1113T,T1137A,T1647A,T692M,T974N,V137M,V1998I,V2144M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57597 213 sw1115;spmut1534;dbsnp10550 PIAS2_HUMAN;NP_004662.2 "I607V,K379R,R63H,T539M,V207A" "0,0,0,0,0" 9063 4584 sw11160;sws1245;dbsnp20377;dbsnp20380 SEM5B_HUMAN;NP_001026872.2;NP_001243275.1 "A289V,A666V,D1028G,D587E,G50E,G888R,I1035T,I220T,L76Q,M742T,N422Y,P18L,P18Q,P18R,P571L,Q244H,R194Q,R218W,R569Q,S996P,V606M,V840A,V840D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54437 1405 sw11161;sws1246;dbsnp16293;dbsnp16294 PAK7_HUMAN;NP_065074.1;NP_817127.1 "A555S,D334H,D665N,E323G,G116D,G118D,M297R,P187A,R335P,R335Q,S225T,S255I,S341I,S511N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57144 3887 sw11162;dbsnp597 BCCIP_HUMAN;NP_510868.1 "E254Q,N233I,N69D,P18L,P18Q,R4G" "0,0,0,0,0,0" 56647 10351 sw11163;sws1247;dbsnp29856 MST4_HUMAN;NP_057626.2 "A60V,E323K,P416S,Q9R,R45C" "0,0,0,0,0" 51765 7711 sw11164;dbsnp8795 HIG1B_HUMAN;NP_057522.1 "D87N,D95N,R6H,S86N,V89I" "0,0,0,0,0" 51751 14664 sw11165 ABI3_HUMAN "F209S,S203F" "0,0" 51225 9281 sw11166;dbsnp14153 FPRP_HUMAN;NP_065173.2 "A229T,A266V,D362E,D761G,G381R,Q242R,R430Q,R430W,S277T,T314M,V837I,Y604H" "0,0,0,0,0,0,0,0,0,0,0,0" 5738 2720 sw11167;dbsnp13372 CT2NL_HUMAN;NP_061174.1 "E71K,G390A,K91R,L253M,M306V,P483S,R360T,S409G,V296M,V394L" "0,0,0,0,0,0,0,0,0,0" 55917 4707 sw11168;dbsnp21830 K1430_HUMAN;NP_065878.1 "C167Y,H465R,K111I,L349F,L443S,S180L,T238A,T48K" "0,0,0,0,0,0,0,0" 57587 6102 sw11169;dbsnp25106 IBTK_HUMAN;NP_056340.2 "A1185V,A613S,C808Y,D1100N,D116N,D394G,D947N,E476A,F550I,H1149R,I635V,I823V,K338R,M5I,N1168S,P1063L,S1141T,S1277P,S471N,S681F,S971L,V1065I,V938I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25998 1062 sw1116;spmut1693;dbsnp23118 RAD17_HUMAN;NP_579917.1 "E605D,G41V,G614R,K535E,L557R,M358V,N533K,P292S,Q385P,R487L,R604K,T145A,T34A,V242I,V32I,V392I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5884 4257 sw11171;dbsnp18540 HTR5B_HUMAN;NP_061897.1 "A1045T,A407T,D1320E,G1826A,G289S,I1144V,I1555M,I1947T,L1762H,N1383S,P652A,Q1830E,R1942S,S1601A,S1601P,T603A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54497 389 sw11173 DYH1_HUMAN H3897R 0 25981 63 sw11175;dbsnp13030 KIF17_HUMAN;NP_065867.2 "A375T,A44T,A621S,D802N,D933E,E523D,E655K,E65K,E807A,E862V,G582R,G793E,I341V,K262R,K50E,L596V,M176V,P105R,P601L,P650L,P670L,P711L,P732L,Q598E,R111G,R148W,R416H,R777H,R809W,R852H,R869C,R870W,R882H,S369R,S539R,T304S,V171M,V402M,V675I,V735I,V800I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57576 1986 sw11176;dbsnp16037 ZNFX1_HUMAN;NP_066363.1 "A856T,D1805E,D903V,E1727Q,E852G,E85K,G1297S,H871Q,I1213V,I367V,K674N,L1526I,L571V,L864V,M1259I,M179I,M551I,N583S,Q491E,Q747H,Q924H,R1517H,R1584C,R1627H,R1639Q,S151N,S249F,S249Y,S394N,T1351I,T166A,T910A,V1138G,V1365M,V1419M,V980I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57169 472 sw11178;dbsnp2273 RHG20_HUMAN;NP_065860.2 "A522T,G608S,G632D,H789Y,I734V,L1071F,L877F,M151V,N227S,N375S,P1103A,P287R,Q318P,Q650P,R1109K,R855L,R887W,R91G,T62A,Y210C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57569 1444 sw11179;dbsnp13417 SI1L2_HUMAN;NP_065859.3 "D1088N,E743K,G1639S,M1424L,M1427L,M951V,R1469G,R1708Q,S1128R,S1403L,S1482L,T1322A,T49A,V264L,V457I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57568 616 sw11180;dbsnp25933 AKIB1_HUMAN;NP_061877.1 L1016M 0 54467 1755 sw11181;dbsnp22504 KLHL8_HUMAN;NP_065854.3 "C87F,F557S,K19E,N565D,P520R,R526Q" "0,0,0,0,0,0" 57563 4915 sw11182;dbsnp2182 K1377_HUMAN;NP_065853.2 "A143D,A178T,A302T,A903V,E622D,G238C,G668S,G949E,H272N,H308L,H708Q,H942R,I171V,I281T,I452M,K687E,K888E,L711F,M1021T,P710S,P737T,Q146E,R205K,R68Q,R963Q,S1077N,S275Y,S372P,S418R,W934C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57562 1668 sw11184;dbsnp1392 UBP35_HUMAN;NP_065849.1 "A224T,A876P,A933S,E682G,G636D,I409V,I677V,L809V,P353R,P554L,R641G,R816H,S328P,S363L,S971T,T688K,T688M,T688R,T817P,V236M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57558 2034 sw11185;dbsnp13396 TUTLA_HUMAN;NP_001128522.1 "A547V,C1142R,G34E,G378A,G48S,G6S,P1117T,P1138H,P370L,P914L,Q581H,R195Q,R273H,R474P,R86Q,S1026I,S1026T,V244A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57549 1485 sw11186;dbsnp22901;hgmd0613_1925 SYLC_HUMAN;NP_064502.9 "A501T,A860P,A860T,A920V,D489V,E17G,G159D,G889D,I972V,K1155E,K82R,N892D,R1088K,R457W,R58L,V431D,Y1026C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51520 1493 sw11187;sws1248;dbsnp9199 ZN624_HUMAN;NP_065838.2 "A141P,C224R,D419G,E305K,I208V,K135N,K194N,R28C,S485L,S568C" "0,0,0,0,0,0,0,0,0,0" 57547 2800 sw11189;dbsnp5648 TXD16_HUMAN;NP_065835.2 "A127T,A180G,A403G,A424T,A578V,D454N,D564G,E486K,E88D,I356M,I467V,I605L,L62F,N152Y,P331S,P791L,R679W,S136N,T186P,V313A,V405M,V692I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57544 3061 sw1118;dbsnp8558;dbsnp8559 LYZL6_HUMAN;NP_065159.1;NP_001186880.1 "F139S,Q76H,R136G,R136Q" "0,0,0,0" 57151 13946 sw11190;dbsnp15944 RCOR3_HUMAN;NP_060724.1 K42R 0 55758 5803 sw11191 MYEF2_HUMAN "A91T,Q426R,S465G" "0,0,0" 50804 5136 sw11192;sws1249;dbsnp6599 E2AK4_HUMAN;NP_001013725.2 "D732E,D872V,E556G,E734D,E738D,F1329V,G1306C,H137R,H741D,I1198F,I441L,K1289N,K1336R,L226I,Q1406H,R1038C,R166W,R173C,R683C,S1036L,S213P,T1060R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440275 688 sw11193;dbsnp13536 PTHD2_HUMAN;NP_065831.1 "A431T,A52V,A650T,A851V,G182S,G39R,G661A,L51V,R542H,R948H,T147M,T3M" "0,0,0,0,0,0,0,0,0,0,0,0" 57540 995 sw11194;dbsnp18226;hgmd0613_557 WDR35_HUMAN;NP_001006658.1 "A875T,A878P,A878T,E626G,E830G,E983G,I1167R,I427M,I728V,K1119E,K1123R,L542V,L904S,N395Y,P351A,Q1104H,Q18R,R1018C,R119C,R353H,R353P,R545Q,R700H,R831C,R966C,R990Q,V257A,V358I,V534G,W261R,Y937C" "1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 57539 1479 sw11195;dbsnp22245;dbsnp22246 TBC14_HUMAN;NP_065824.2;NP_001106832.1 "D458G,E446Q,H85Q,K146R,K261R,L180V,L40H,L41V,L52F,N256S,R125H,V33I" "0,0,0,0,0,0,0,0,0,0,0,0" 57533 3410 sw11197 RHG28_HUMAN I168V 0 79822 3793 sw11198;dbsnp20571 ATS9_HUMAN;NP_891550.1 "A87P,A87S,A87T,D1674E,D1818Y,E1791Q,E873K,F786L,G245R,G490D,G598E,G598V,I76F,I76V,K1579E,K1740R,K1921E,K621R,P212S,P710H,Q1703R,R1317W,R1759T,R1810H,R1910Q,R1933Q,R209C,R630C,R821H,R821L,R956H,S1826N,S96P,S96T,T131K,T1662M,T1726P,T273M,V1353F,V1408I,V1408L,V1912I,Y1731H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56999 462 sw1119;spmut252;dbsnp10356 CABYR_HUMAN;NP_036321.2 "A39G,I186V,I426T,K448R,K94R,L451P,M219T,P163Q,P313A,Q35K,S436C,S490A,T424I,T74M,V347A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26256 6781 sw111;dbsnp28038 NKX26_HUMAN;NP_001129743.2 "F151L,R120P,Y185H" "1,0,0" 137814 10829 sw11200;dbsnp5820 NYNRI_HUMAN;NP_079357.2 "A659V,A978T,E997K,G254D,I1551V,K641Q,M62I,P982T,S275G,S297R,T1238A,T457M" "0,0,0,0,0,0,0,0,0,0,0,0" 57523 488 sw11201;spmut2052;dbsnp6656 STAR9_HUMAN;NP_065810.2 "A1210V,A1262T,A2205V,A3074P,A3479V,A4097T,A4461T,A556S,A977V,C1114R,D1616V,D3381E,D3777N,D609V,E2083K,E2277K,E2767D,E3431Q,E634D,E69G,E804K,F3326C,G1004R,G1355R,G2843R,G2936V,G3266S,H1550Q,H2783R,I1345S,I2772V,K1003T,K1706E,K4453E,L161P,L3979S,L4020V,L4085I,L4404I,M2416V,M245T,N1796K,N1838K,N2029D,N209H,N3383D,P124S,P1359R,P1720L,P1734S,P1776T,P2336S,P2534L,P2869S,P3468R,P3605A,P4089H,Q104H,Q2421R,Q4187R,Q4232H,Q4232L,R1172C,R1172H,R1555S,R159Q,R1777G,R1986L,R2319W,R2677H,R3015G,R3480C,R3785G,R3970K,R419G,R4276W,R540Q,R546C,R764W,R835C,S1141N,S1190L,S2075A,S2622F,S3490R,S3681C,S3697R,S3804N,S3988N,S4472G,S4482F,T2385M,T2855I,T3046A,T3422S,T3545A,V2821L,V3127M,V3494I,Y3469C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57519 42 sw11202;dbsnp703 FRM4A_HUMAN;NP_060497.3 "I510V,L334M,N1022I,P663A,Q242H,Q76H,R518C,R518G,T444K,T751P,T846M" "0,0,0,0,0,0,0,0,0,0,0" 55691 1944 sw11204;dbsnp2119 NRX2A_HUMAN;NP_055895.1 "A1350V,E267K,G1621D,H1084Y,H1172P,L81Q,M761L,P610L,R1085C,R508H,S1045G,S310G,T1123I,T1137I,V364I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9379 627 sw11205;dbsnp13871 WRP73_HUMAN;NP_060288.3 "G262A,I258L,I331M,P292L,P383L,R153W,R172Q,R295Q,R30Q,R387Q,S407L,T392M,V358I,V376E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 49856 7405 sw11206;dbsnp18725 ANKY1_HUMAN;NP_057636.2 "A251V,A490S,A517V,D451V,D89N,E410K,E469G,H179N,I424M,L160M,M547T,Q644E,R157W,R187C,R458Q,R458W,R680W,R68W,R797C,R814Q,S123T,S441R,T140M,T649M,V172L,V472L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51281 2389 sw11207;dbsnp11393 THEG_HUMAN;NP_057669.1 "D353N,D79G,E38K,H297Y,K312N,R122T,R176Q,R192C,R193C,R202I,R231H,R267Q,R30H,R5K,S21L,S310L,S39N,S39R,T184A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51298 9004 sw11208;dbsnp6038;dbsnp6039;dbsnp6040 GMPR2_HUMAN;NP_001002001.1;NP_001002000.1;NP_001002002.1 "G242D,H303R" "0,0" 51292 9284 sw11209;dbsnp12495 VGLU1_HUMAN;NP_064705.1 "D520E,P431R,P538L,R432H,R47Q,R558Q" "0,0,0,0,0,0" 57030 5278 sw1120;dbsnp24624 FLOT1_HUMAN;NP_005794.1 "D186Y,E208Q,R190W,S52N,V259M" "0,0,0,0,0" 10211 8001 sw11210;sws1251;dbsnp2224 VGLU2_HUMAN;NP_065079.1 "H573P,I365M,N551S,S574R" "0,0,0,0" 57084 5278 sw11211;dbsnp522 LRIT1_HUMAN;NP_056428.1 "A179T,D563Y,D596E,G583S,I537V,K454E,L154M,M34T,P258Q,P389T,R473W,R555H,R589Q,R68W,S591G,T308M,V444M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26103 4869 sw11212;dbsnp9021 HOP2_HUMAN;NP_057640.1 "D185V,K63N,R108H,R5W,Y163N" "0,0,0,0,0" 29893 12592 sw11213;dbsnp2753;dbsnp2754 B3GA1_HUMAN;NP_061114.2;NP_473366.1 "A131T,V23L" "0,0" 27087 10045 sw11214;dbsnp22300 STX18_HUMAN;NP_058626.1 "A209S,D32Y,E184A,E257K,E262D,I243M,L227F,M82V,S228T,S51G" "0,0,0,0,0,0,0,0,0,0" 53407 10028 sw11216 IMPCT_HUMAN "D125E,L151V" "0,0" 55364 10396 sw11217;dbsnp28661 DEC1_HUMAN;NP_059114.1 "A60V,A65P" "0,0" 50514 14876 sw11218;dbsnp6214;dbsnp6215;dbsnp6216 ZN219_HUMAN;NP_001095142.1;NP_001095924.1;NP_057507.2 "A343T,P260T,P699L,Q470E" "0,0,0,0" 51222 3863 sw11219;dbsnp2870 UVRAG_HUMAN;NP_003360.2 "A609T,A640T,C71R,E219G,E667K,G486V,H580Q,N249D,P10H,Q273P,R253W,R513S" "0,0,0,0,0,0,0,0,0,0,0,0" 7405 4085 sw1121;sws125;spmut2217;dbsnp23692 TRIO_HUMAN;NP_009049.2 "A1613T,A1997T,A2464V,D348E,G2624E,H1690R,H2633N,I2689T,K2067M,K2204R,K2204T,K2816R,K3037M,L2739P,N2944H,N2944S,N406S,P2622T,Q2092K,Q2951H,R1234Q,R3083C,S1891P,S2767L,S291T,T1317K,T1317M,T1644M,T2242M,T2743K,T2758M,T2787S,V3060I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7204 134 sw11220 1C05_HUMAN A223V 0 3107 7735 sw11222;dbsnp17745;dbsnp17746 TFP11_HUMAN;NP_001008697.1;NP_036275.1 "A714V,A766T,A90G,A90V,D390N,G134E,I514V,M140V,N177S,Q301H,R402C,R8Q,T737M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 24144 2987 sw11223;dbsnp6989 HNF6_HUMAN;NP_004489.1 "G174S,G81D,G96D,P75A,R269G,T417N" "0,0,0,0,0,0" 3175 6595 sw11227;dbsnp11581 GALP_HUMAN;NP_149097.1 "G53V,G74R,I72M,L75F,M52K,Q55H" "0,0,0,0,0,0" 85569 14451 sw11228;dbsnp13261;dbsnp13262 SPRR3_HUMAN;NP_005407.1;NP_001091058.1 "C98Y,G105D,L149V,Q20R,T156M,V101A,V143M,V61I,V69I" "0,0,0,0,0,0,0,0,0" 6707 13560 sw11229;dbsnp14132 XCL2_HUMAN;NP_003166.1 "G114S,H28D,R29K,V26I,V80M" "0,0,0,0,0" 6846 14488 sw1122;sws126;spmut76;dbsnp3640 AKAP3_HUMAN;NP_006413.2 "A446V,E222K,E525K,E645K,E727K,G118E,G652A,H325L,I500T,I661T,K608R,L845V,N834S,N87T,P111L,R263Q,R599Q,S635Y,S700F,S700P,S725L,S823L,T464S,T756K,V358M,V776I,Y156S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10566 2877 sw1123 MPDZ_HUMAN G1663R 0 8777 390 sw11230;dbsnp24831 ORC3_HUMAN;NP_036513.2 "A103V,A626T,A667T,D140G,G620V,I247V,L426F,N110I,N323T,P595L,Q126R,Q458H,Q698E,Q94K,R588C,S183L,S481F,T195M,T287M,T389P,V217I,W448R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23595 3955 sw11231;spmut1764;dbsnp6885 RHCG_HUMAN;NP_057405.1 "A387T,H111R,I198T,N212K,R202C,S443N,T160P,T45A,V322A,V354M,W102R" "0,0,0,0,0,0,0,0,0,0,0" 51458 7025 sw11233;sws1253;spmut1366;dbsnp9478 NLK_HUMAN;NP_057315.3 "P63T,V177A" "0,0" 51701 6179 sw11234 COPG2_HUMAN "I547L,P626L" "0,0" 26958 2747 sw11236;spmut1272;dbsnp8890 MRC2_HUMAN;NP_006030.2 "A1431T,E1190K,G1208S,H173Y,P1075T,Q1477R,R114Q,R1156H,R1292Q,R159C,R490C,R994Q,S155T,S352R,V1302I,V43I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9902 860 sw11237;dbsnp14101 CRNN_HUMAN;NP_057274.1 "A158T,A27V,E225Q,E416K,G143C,G198S,G469D,G480S,Q147K,Q374H,R372G,R479Q,R59H,T223R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 49860 6748 sw11238;dbsnp19160;dbsnp19161;hgmd0613_1619 I36RA_HUMAN;NP_036407.1;NP_775262.1 "G30R,I146V,L27P,N47S,P46S,R48W,S113L,V57I" "0,0,1,0,0,1,1,0" 26525 13818 sw11239;dbsnp13514 XPR1_HUMAN;NP_004727.2 "A675T,I575V,S484T,T491A,Y417H" "0,0,0,0,0" 9213 4113 sw11240;dbsnp719 COMD3_HUMAN;NP_036203.1 "A31E,R18G" "0,0" 23412 7229 sw11241;dbsnp22023 PRGC1_HUMAN;NP_037393.1 "G482S,H172D,L410I,L438S,R566C,R611H,R651C,R690Q,R797C,S495P,S577L,S74L,T612K,T612M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10891 3227 sw11242;dbsnp22898 MTRR_HUMAN;NP_076915.2 I49M 0 4552 3832 sw11243;spmut155;dbsnp27586 ASH2L_HUMAN;NP_004665.2 "A14T,A20T,K418N,M190I,P493S,R592C,S478F" "0,0,0,0,0,0,0" 9070 4820 sw11244;dbsnp7343 CPNE7_HUMAN;NP_055242.1 "A624D,D224V,D559G,E412K,F77L,G160V,H146Q,K507E,L156R,P629L,P633L,R350C,R397Q,S100R,S103T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27132 4764 sw11248;dbsnp4306 MGT4C_HUMAN;NP_037376.2 "I449V,T321M,T375A,T428S" "0,0,0,0" 25834 7041 sw11249 TR10D_HUMAN "P35S,R276H,S310L,T345P" "0,0,0,0" 8793 7762 sw1124;dbsnp8869 CBPD_HUMAN;NP_001295.2 "E454G,E964A,H505N,I814V,K36E,K499R,N1328S,Q1137L,R370H,R415T,T1353A,T899I" "0,0,0,0,0,0,0,0,0,0,0,0" 1362 1017 sw1125 OR2J3_HUMAN "I261M,R226Q,T113A,V228I" "0,0,0,0" 442186 9497 sw11250;spmut852;dbsnp30357 HDAC6_HUMAN;NP_006035.2 "A640S,A984T,G1083D,G73A,G930R,I1177F,I929T,M867L,N1200D,R832C,R832H,S1025L,T994I,V439G,Y1189C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10013 1379 sw11252;dbsnp2030;dbsnp2031;dbsnp2032 DKK3_HUMAN;NP_037385.2;NP_056965.3;NP_001018067.1 "A338V,E307G,E49D,G346E,R180Q,R335G,S327R,S93G" "0,0,0,0,0,0,0,0" 27122 9663 sw11253;spmut866;dbsnp24932 HEY2_HUMAN;NP_036391.1 "A299G,A299V,A85T,D98A,F79L,L100S,P179L,T31A,T322K,T96A,V140M,V297M" "0,0,0,1,0,1,0,0,0,1,0,0" 23493 9967 sw11256;dbsnp16639 CATZ_HUMAN;NP_001327.2 "A129R,A208T,A286T,G191R,L196P,P36S,P59S,T226S" "0,0,0,0,0,0,0,0" 1522 10800 sw11258;sws1259;dbsnp1327 KS6B2_HUMAN;NP_003943.2 "A420V,F269L,I312M,M236T,N109I,N109S,P267L,R108H,R120G,R120W,T228N,V368M" "0,0,0,0,0,0,0,0,0,0,0,0" 6199 6205 sw11259;dbsnp26666 DNJB9_HUMAN;NP_036460.1 "A2T,H154Y,R136H" "0,0,0" 4189 12480 sw1126 OR2J2_HUMAN "A111T,A146V,A218T,H74Y" "0,0,0,0" 26707 9497 sw11260;spmut513;dbsnp19914 DJB11_HUMAN;NP_057390.1 "I250V,I264V" "0,0" 51726 9478 sw11261;dbsnp24628 GABR1_HUMAN;NP_001461.1 "A20V,D558Y,F645L,G489S,G655R,I841V,R142W,R955Q" "0,0,0,0,0,0,0,0" 2550 2282 sw11262;spmut1869;dbsnp12217 SAE2_HUMAN;NP_005490.1 "A296V,I47M,L307R,P551L,Q304H" "0,0,0,0,0" 10054 4697 sw11263;dbsnp23381 POLK_HUMAN;NP_057302.1 "A90T,D708H,E292K,E29K,E754K,F192C,F271V,G403D,I612V,L21F,M133V,P169T,Q525K,R219I,R298H,R512W,S423R,S635N,S832N,T595I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51426 2773 sw11264;dbsnp28859 CTNL1_HUMAN;NP_003789.1 "A115T,D555E,D687N,E203K,E527Q,I593N,K385Q,M716R,N91T,P281L,R264H,R598W,R70H,S291T,T424S,Y436C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8727 3753 sw11265;dbsnp22323 DKK2_HUMAN;NP_055236.1 "A234T,G161E,G29V,G96R,R146Q,R150Q,S7N" "0,0,0,0,0,0,0" 27123 11724 sw11266;dbsnp19999 GHRL_HUMAN;NP_057446.1 "G24A,L72M,Q90L,R75Q" "0,0,0,0" 51738 14443 sw11267;dbsnp26146 DBF4A_HUMAN;NP_006707.1 "C250Y,D388H,E342G,F397C,H575R,I526V,K579E,L619P,M225I,N608S,R584Q,T468S,V335F,Y112N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10926 4330 sw11268;dbsnp5505 SE1L1_HUMAN;NP_005056.3 "A687S,D162G,G306S,H662Y,M191T,N98Y,Q791H,R208Q,S28N,S565N,V225A,V714I" "0,0,0,0,0,0,0,0,0,0,0,0" 6400 3259 sw11269;sws1260;dbsnp26306 WNT16_HUMAN;NP_476509.1 "E315Q,G156S,G82R,M144T,Q211K,S260P,T263I" "0,0,0,0,0,0,0" 51384 9300 sw11271;dbsnp4007 BIN2_HUMAN;NP_057377.2 "A162D,A70G,E190K,K403N,M125V,N529D,P281S,S395G,S444L,S48N,T351A" "0,0,0,0,0,0,0,0,0,0,0" 51411 5617 sw11273;dbsnp1439;hgmd0613_1110 CATF_HUMAN;NP_003784.2 "A140T,N378S,Q153R,R205L,R226C,R254S,R418H,R421W,T228R" "0,0,0,0,0,0,0,0,0" 8722 6935 sw11275;dbsnp11076 KLK11_HUMAN;NP_659196.1 "A32T,A85S,E207K,E59K,E73K,G49E,H191D,I201T,K11N,L30F,P160S,R166C,S150T" "0,0,0,0,0,0,0,0,0,0,0,0,0" 11012 11236 sw11276;dbsnp10572 B4GT6_HUMAN;NP_004766.2 "F20I,H168Y,I32V,I379V,P97L" "0,0,0,0,0" 9331 8829 sw11277;dbsnp15055 LPAR3_HUMAN;NP_036284.1 "R231Q,R319C,V288M" "0,0,0" 23566 9315 sw1127;dbsnp35;dbsnp36 GLRX3_HUMAN;NP_006532.2;NP_001186797.1 "P123S,Q21H,Q266E,R99Q" "0,0,0,0" 10539 10009 sw11280;dbsnp18622 REV1_HUMAN;NP_057400.1 "A1003T,D700N,F257S,G498E,K1075M,K388N,K8R,L1102P,L1131H,L660W,M656V,N1074K,N1091T,N306D,N310S,N373S,P1060T,P831L,P902H,P902S,R34Q,R434Q,R704Q,S221N,S485L,S921I,V138M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51455 1276 sw11281 CLIP2_HUMAN R977P 0 7461 1916 sw11282;dbsnp26733 ZN212_HUMAN;NP_036388.2 "A190V,A228E,E225K,E461D,G188R,G399S,H293Y,L197P,P488L,P488T,Q241R,R336C,S313C,V169M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7988 6749 sw11283;dbsnp26097 ZN282_HUMAN;NP_003566.1 "A239T,I321V,M273V,P194S,P281L,R670Q,S22G" "0,0,0,0,0,0,0" 8427 4361 sw11285;dbsnp17648 S14L4_HUMAN;NP_777637.1 "A149V,D387N,E211D,E211K,G325R,I29L,K375E,L303F,R122Q,R122W,R124G,R364H,S207L,S329R,S3G,S85L,V200M,V360I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284904 8466 sw11286;dbsnp17504 S14L3_HUMAN;NP_777635.1 "A374T,D335E,D350V,D366N,I103T,I232S,L88P,M125L,M84L,R130H,R214C,R214H,R364C,R40C,R45W,R63W,V270L,Y342C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 266629 8466 sw11288;dbsnp25235 TRI10_HUMAN;NP_006769.2 "A287S,E386G,G392R,I236T,P26L,Q161E,Q210L,R216K,R218W,R267Q,R350W,R429L,R65H,S326F,T252M,T257I,V119M,V78M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10107 6990 sw11289;spmut1168;dbsnp10584 MALT1_HUMAN;NP_006776.1 "A791G,A791T,D73E,I641V,K226R,M732T,Q754R,R149Q,R217G,Y275C" "0,0,0,0,0,0,0,0,0,0" 10892 3067 sw1128;dbsnp9373 KT33A_HUMAN;NP_004129.2 "A270E,A270G,A270V,A39P,A39S,A39T,C396W,D294H,D294N,D294Y,D80H,E78K,E78Q,F47L,I272F,I272L,I272V,L169M,L169V,N160I,N160S,N160T,N370I,N370S,N370T,N388K,Q130L,Q130P,Q130R,R13H,R13L,R13P,R19G,R19W,R202C,R316S,R348G,R348W,R393C,R393G,R393S,R66C,R66G,R66S,R91W,S230I,S230N,S230T,S55R,T218A,T218P,T218S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3883 6821 sw11290;spmut2040;dbsnp26039 ST17A_HUMAN;NP_004751.2 "D153G,E126D,E286Q,I365T,K204M,K362E,M167T,R168Q" "0,0,0,0,0,0,0,0" 9263 8299 sw11291;dbsnp8003 CFDP1_HUMAN;NP_006315.1 "A208P,A60T,D92E,S10P,V178E" "0,0,0,0,0" 10428 10888 sw11293;dbsnp8422 ZN629_HUMAN;NP_001073886.1 "P707A,P70A,V127A" "0,0,0" 23361 2779 sw11294;dbsnp18838 MARCO_HUMAN;NP_006761.1 "A161T,E203K,E511D,F282S,F94S,H101Q,K387Q,L68V,M162V,P171L,P287S,P28L" "0,0,0,0,0,0,0,0,0,0,0,0" 8685 6307 sw11295;dbsnp11606 PROD2_HUMAN;NP_067055.1 "A323V,A330S,A35V,A389V,E358K,M428T,N276S,P67L,P91R,R177Q,R305Q,R442H,R525Q,S14F,S273C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58510 6045 sw11296 EPHA6_HUMAN F703S 0 285220 1629 sw11298 ZBT47_HUMAN A9T 0 92999 3645 sw11299;dbsnp17953 RIM3A_HUMAN;NP_056487.1 "C1170F,D1091E,E1149D,G990A,P1307T,Q1154R,R1513C,S1314Y,V948L" "0,0,0,0,0,0,0,0,0" 85376 697 sw1129;dbsnp8905 KRT34_HUMAN;NP_066293.2 "A312E,A312G,A312V,A347V,A419D,A419G,A419V,C34F,C34S,C34Y,C372S,C414W,C90W,D209E,E165Q,E295K,E295Q,E405D,H348L,H348P,H348R,I280N,I280S,I280T,K115N,P66H,R117C,R117G,R117S,R133G,R133W,R250C,R250G,R250S,R376G,R376W,S245C,S345R,T257A,T257P,T257S,T343K,T343M,T343R,T9A,T9P,T9S,V253L,V253M,V383L,V383M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3885 7606 sw112;dbsnp3935 O6C74_HUMAN;NP_001005490.1 "D87V,G86D,H129R,K296N,L61F,M134T,M160I,R120C,R120L,R2G,S247F,T289I,Y33F,Y75C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254783 10547 sw11300 CNOT8_HUMAN L32P 0 9337 11049 sw11301 DYH17_HUMAN "D492N,M1958V" "0,0" 8632 52 sw11302;dbsnp28664;hgmd0613_1753 NPS3A_HUMAN;NP_056284.1 "E57Q,P245L,R100Q" "0,0,0" 25934 11976 sw11303;dbsnp19993 F198A_HUMAN;NP_001123380.2 "A27V,E464K,G315E,G539S,H227Y,P183L,Q460R,Q490H,R14Q,R342W,V135A,V30I" "0,0,0,0,0,0,0,0,0,0,0,0" 729085 5489 sw11304;dbsnp18069 IF172_HUMAN;NP_056477.1 "C1496F,E1143K,G1425D,G573D,H661Q,I1582T,I83V,N478I,P1025A,Q866R,R1134L,R1134W,R1225Q,R1284Q,R236C,R300Q,R508H,R672Q,R755Q,R784W,R908Q,R953H,S924A,T562S,V1204L,V1556M,V1645I,V482G,V851L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26160 588 sw11305;spmut769;dbsnp26170 GIMA2_HUMAN;NP_056475.1 "A126E,A167P,A265D,C299S,H161R,I222M,L27V,M294T,N152S,P79L,R251G,S67I,V74F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 26157 9968 sw11306;dbsnp24907 RF1ML_HUMAN;NP_061914.3 "D368N,E285G,L177F,L84S,R76Q,T38A,V214I" "0,0,0,0,0,0,0" 54516 8978 sw11307;dbsnp25074 O14J1_HUMAN;NP_112208.1 "A111V,A204E,C208F,K184T,K305T,M156T,M7T,R218L,R291W,S188C,S265L,V278M" "0,0,0,0,0,0,0,0,0,0,0,0" 442191 10376 sw11308;sws1263;dbsnp25035 OR5V1_HUMAN;NP_110503.3 "A255T,C241Y,F106V,G233R,G253D,I45M,I46V,L23W,P287S,S243C,V134I" "0,0,0,0,0,0,0,0,0,0,0" 81696 10377 sw11309;sws1264;dbsnp24947 O12D3_HUMAN;NP_112221.1 "A236S,C139R,F175I,G62V,M206T,T97I,V138L,Y277H" "0,0,0,0,0,0,0,0" 81797 10509 sw1130;dbsnp9030 KRT36_HUMAN;NP_003762.1 "A119V,A252G,A282D,C304G,D212E,E311V,G24S,H461Q,N357T,P138A,P424Q,Q126R,R179Q,R179W,R277C,R394C,S54L,T315M,V382I,V382L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8689 6821 sw11310;spmut2129;dbsnp26229 TES_HUMAN;NP_056456.1 "A221S,A221V,A358T,P85L,Q118R,V348M" "0,0,0,0,0,0" 26136 8136 sw11313;spmut2050;dbsnp11685 STAP2_HUMAN;NP_001013863.1 "A346G,C281R,D93N,G383R,R146C,S330A,T282I,V187L" "0,0,0,0,0,0,0,0" 55620 7614 sw11314;dbsnp1260 SRGEF_HUMAN;NP_036271.1 "A398S,E9G,F250L,G457E,H137R,H32R,H344P,K429E,P377L,P406L,Q105R,Y416C" "0,0,0,0,0,0,0,0,0,0,0,0" 26297 7442 sw11315;dbsnp14740 CRCT1_HUMAN;NP_061933.1 "C96Y,G20S" "0,0" 54544 14665 sw11316;dbsnp22199 ACHA9_HUMAN;NP_060051.2 "A312T,A315V,A452V,A478V,D389G,E379G,G141E,G180D,M319T,N442S,R399C,R96Q,T371M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55584 7026 sw11317;sws1265;dbsnp247 DMBT1_HUMAN;NP_015568.2 "A31T,C1018S,D560E,E1504G,E1733G,E9G,G162E,G253S,G607V,H1084Y,H1732N,H1732R,H1732S,H814N,I1055M,M1169T,N2256D,N316K,N322D,N546S,N566S,P1054L,P357S,P42T,P65L,P839L,P856S,Q337L,R1176W,R1434W,R1860L,R2001C,R2079Q,R2373H,R364G,R656W,R670C,S1095P,S1102T,S1879R,S343T,S52W,S54L,S739G,T1961P,T649M,T719M,T724I,T780M,V1545M,V1664M,V2255M,V60A,W156R" "0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1755 268 sw11318;dbsnp19913 FETUB_HUMAN;NP_055190.2 "C16W,D69N,G202S,K360R,N125D,P291A,R128G,R243Q,R66Q,S33P,V252E,V379A" "0,0,0,0,0,0,0,0,0,0,0,0" 26998 8942 sw11319;dbsnp14036 SYWM_HUMAN;NP_056651.1 "A267P,G50S,H151R,I317V,L360P,M186V,P82A,R252C,W13G" "0,0,0,0,0,0,0,0,0" 10352 9424 sw1131;dbsnp8906 KRT37_HUMAN;NP_003761.3 "A205E,A205G,A205V,A217E,A217G,A217V,A306D,A306G,A306V,C309S,C325S,C432G,C432R,C432S,E128D,F155I,F155L,F155V,F257I,F257L,F257V,G13C,G13R,G13S,G58E,H338Q,H443Q,M108L,M108V,N39I,N39S,N39T,P434A,P434S,P434T,P61A,P61S,P61T,Q235E,Q235K,Q289L,Q289P,Q289R,R382L,R382P,R382Q,S421C,S421F,S421Y,S431I,S431N,S431T,S73C,T15A,T15P,T15S,T422K,T422M,T422R,T72A,T72P,T72S,V147L,V147M,V393M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8688 7606 sw11320;dbsnp8989 CLM8_HUMAN;NP_009192.2 "A138V,A82T,G30R,P13A,P13S,R111Q,V124M" "0,0,0,0,0,0,0" 11314 10889 sw11321;dbsnp5663 PARP2_HUMAN;NP_005475.2 "D235G,I285V,I331T,N168S,R296Q,S161N,V102E" "0,0,0,0,0,0,0" 10038 5370 sw11322;dbsnp20441 LIMD1_HUMAN;NP_055055.1 "A109T,A462S,G36D,G415R,K33N,K465R,N638S,S145N,S197F,S255R,S296P,S343T,V287L,V427I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8994 4310 sw11325;dbsnp28747 GTR6_HUMAN;NP_060055.2 "D243N,G131R,H75Y,K36R,L375V,L400V,P386S,R224Q,T140M,T172A,T240M,T500M,V157M,V165I,V242F,V318I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11182 6532 sw11327;dbsnp17634 SUSD2_HUMAN;NP_062547.1 "A141V,A485V,C42Y,D480N,E336D,G372R,N436S,N466S,P731S,Q364H,R140C,R165G,R359Q,R499C,R499H,R59Q,R613C,R613H,R810H,S110T,T15I,T479I,V147G,V582I,V633M,W244S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56241 3080 sw11328;dbsnp17582 TCF20_HUMAN;NP_005641.1 "A1373V,A1812T,A66V,G406S,M1165I,M405V,P1942H,P1942R,P1942S,Q343H,R616W,S1325N,S1414L,S16T,S25A,S722G,T485N,V1441M,Y1090H,Y1910C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6942 447 sw11329;dbsnp17422 HMGX4_HUMAN;NP_001003681.1 "A369T,G165V,K253M,P503S" "0,0,0,0" 10042 5127 sw1132;dbsnp8711 KRT38_HUMAN;NP_006762.3 "A134T,A205S,D306A,E333K,G438D,G453R,N346S,R123C,R288H,S423P,T99N" "0,0,0,0,0,0,0,0,0,0,0" 8687 6821 sw11330 ABC3B_HUMAN "K62E,P98L,R351H,S109A,T146K" "0,0,0,0,0" 9582 8880 sw11331;dbsnp17562 SRR1L_HUMAN;NP_001013716.2 "A99T,D72V,I66L,L256F" "0,0,0,0" 402055 9930 sw11332;spmut2083;dbsnp1383 SWP70_HUMAN;NP_055870.2 "I88V,Q505E,R230G" "0,0,0" 23075 5339 sw11333;dbsnp24117;hgmd0613_1821 KLHL3_HUMAN;NP_059111.2 "A340V,A398V,A494T,A77E,C164F,D58G,D97Y,E85A,F322C,G500V,L387P,M427T,M78V,N529K,P426L,P501T,Q309R,R228G,R246S,R315C,R336I,R362W,R384Q,R384W,R431Q,R528C,R528H,R575W,S410L,S432N,S433G,S433N,V361M,V438I,Y557C" "1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 26249 5177 sw11334;dbsnp20628 FBX40_HUMAN;NP_057382.2 "A227T,A288V,A514T,A594G,C72W,D245G,E123K,E167K,E552Q,G517E,I115S,K248I,K397N,K50T,M48I,P547L,P678L,S643N,V87A,V92M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51725 3988 sw11335;dbsnp8675 MLX_HUMAN;NP_733752.1 "Q223R,V156I" "0,0" 6945 10916 sw11337;dbsnp18112 IL36A_HUMAN;NP_055255.1 "G134R,I44V,I63T,N148I,Q12R" "0,0,0,0,0" 27179 13559 sw11338;dbsnp29240 NDOR1_HUMAN;NP_055249.1 "D558Y,F333S,I305F,L236V,L548P,M555V,P281L,Q217H,Q251E,R114Q,R147Q,R193W,R327Q,R350C,R414H,R415Q,R505Q,S389L,V153I,V308M,V522I,V559I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27158 5072 sw11339;sws1266;dbsnp23793 AFF4_HUMAN;NP_055238.1 "G143S,I643V,N356S,N612S,P413T,Q185L,R225G,R725T,S277T,T1107A,T136P" "0,0,0,0,0,0,0,0,0,0,0" 27125 1520 sw11341;spmut157;dbsnp26936 ASIC3_HUMAN;NP_004760.1 "A123T,A193D,A46V,F70L,I241T,K426N,M313I,N228S,P289S,Q73K,R101C,R127C,R127H,R238G,R42Q,R465Q,R98H,R99H,S15L,T515S,T529S,V514I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9311 5863 sw11343;spmut1245;dbsnp26038 MKRN1_HUMAN;NP_038474.2 "G147D,I328V,P140T,R103L,R371K,V207M,V243L,V439A" "0,0,0,0,0,0,0,0" 23608 6533 sw11344 NPCL1_HUMAN "I1233N,V55L" "0,0" 29881 1049 sw11346;dbsnp1608 CHRD1_HUMAN;NP_036256.2 "A329D,K289R,N19S" "0,0,0" 26973 10098 sw11347;sws1267;spmut2114;dbsnp4138;hgmd0613_1641 TBK1_HUMAN;NP_037386.1 "E653Q,F45L,H322Y,K291E,K570Q,L508I,N388D,R271Q,V464A" "0,0,0,0,0,0,0,0,0" 29110 3794 sw11348;dbsnp9080 SEPT9_HUMAN;NP_001106963.1 "M576V,P145L,P145R,R106W,R76C,S111F" "0,0,0,1,0,1" 10801 5326 sw11349;dbsnp30162;hgmd0613_1650 UBQL2_HUMAN;NP_038472.2 "G120A,G483V,L235H,P497H,P497S,P506T,P509S,P525S,Q425H,Q584H" "0,0,0,1,1,1,1,1,0,0" 29978 4859 sw1134;dbsnp12962 ANXA9_HUMAN;NP_003559.2 "A119T,A28T,D166G,D304G,E150K,G242R,I79T,M1V,P10L,Q84P,R225Q,R232Q,R86L,S266L,T114A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8416 9787 sw11350;dbsnp18026 NAT8_HUMAN;NP_003951.3 "A112D,A29T,A73V,C202Y,C4Y,E104K,F143S,M121T,M191L,M94I,P126L,R150G,R159S,T179N,W60S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9027 12392 sw11351;dbsnp26313 STEA1_HUMAN;NP_036581.1 "A176T,D53N,D53V,F169L,H47Q,I80V,I81M,L141V,R185M,R186Q,V94G" "0,0,0,0,0,0,0,0,0,0,0" 26872 9870 sw11352;dbsnp28702;dbsnp28703 EGFL7_HUMAN;NP_958854.1;NP_057299.1 "A186G,G114R,G173S,G91C,H22Y,P183S,Q135E,R112Q,R124H,V153I" "0,0,0,0,0,0,0,0,0,0" 51162 11416 sw11353;dbsnp24576 I20RA_HUMAN;NP_055247.2 "D335A,E508D,G35V,G429E,K321R,L382F,R88K,S177Y,S426P,T193M,T313N,V183M,V259I,W194R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 53832 5797 sw11355;dbsnp24790;dbsnp24791 DCDC2_HUMAN;NP_057440.2;NP_001182539.1 "G53A,K456N,P152A,P273S,R403H,S181R,S221G,S239A,V16A,V475M" "0,0,0,0,0,0,0,0,0,0" 51473 7086 sw11356;spmut1482;dbsnp29680 PCSK1_HUMAN;NP_037403.1 "A31T,G54S,S228F" "0,0,0" 27344 11707 sw11357;dbsnp18598 PCYOX_HUMAN;NP_057381.3 "A477T,F408S,F66L,I270V,N254I,N254S,S149F,S388C,S465G,T414S" "0,0,0,0,0,0,0,0,0,0" 51449 6562 sw11358;dbsnp12941 DDX20_HUMAN;NP_009135.4 "A12V,A137G,A326T,A592D,A791T,E713G,I636T,I762T,K256N,K529E,M352V,N559S,Q470P,R693S,R735W,S579C,V554I,V642L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11218 3068 sw11359 S23A1_HUMAN S421A 0 9963 4594 sw1135;dbsnp6867 CLPX_HUMAN;NP_006651.2 "A605T,E155K,G250S,I201L,I488T,R32P,S19F,T238A,T46I,V14A,V14G" "0,0,0,0,0,0,0,0,0,0,0" 10845 4760 sw11360;dbsnp16928 ATS1_HUMAN;NP_008919.3 "A227P,D782G,E631K,G275D,G576S,H938R,I646T,M270T,P319L,R345Q,R703H,R756Q,R812C,T556M,V672I,V678I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9510 2252 sw11361 SHPK_HUMAN "D421E,E215K,L434M" "0,0,0" 23729 7042 sw11362;dbsnp4970 NUFP1_HUMAN;NP_036477.2 "A391T,D180N,D397E,G13R,H113R,M287V,P109L,P136S,Q186E,S304T,S36R,T443M,T443P,W14R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26747 6750 sw11364;dbsnp28920 DPP2_HUMAN;NP_037511.2 "A421T,A431V,A461V,A83P,A89G,F243L,M367T,R426W,R478C,S120F,T385I,V189I,V268M,V436I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29952 6813 sw11365;dbsnp26269 GT2D1_HUMAN;NP_057412.1 "A547V,E681K,I699V,M253T,M652V,P925L,R112C,R209W,S906L" "0,0,0,0,0,0,0,0,0" 9569 2206 sw11368;dbsnp28385 TMEM2_HUMAN;NP_037522.1 "D164V,D423E,E825K,F725L,F930S,G1280D,I1010V,I868V,K1161N,N615I,P627L,P765S,Q1147H,Q127L,Q613E,R119C,R1272H,R1364I,R245K,R291H,R291L,R291P,R974H,S10Y,S1254N,S883N,V413A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23670 1010 sw11369;dbsnp17740 RTDR1_HUMAN;NP_055248.1 "A268V,A27D,A340V,E144G,E185K,E185Q,E331K,R212C,R289C,R306H,T184I,T42M,V123A,V313M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27156 9715 sw1136;sws127;dbsnp11397 NCTR1_HUMAN;NP_004820.1 "E133K,F175I,I214L,K82Q,L112S,M92T,N300K,R91L" "0,0,0,0,0,0,0,0" 9437 10771 sw11370;dbsnp3888 CLC2D_HUMAN;NP_037401.1 "I157T,L23V,N19K,R101K,S185F" "0,0,0,0,0" 29121 13105 sw11371;dbsnp13646 NB5R1_HUMAN;NP_057327.2 "K177N,N44S" "0,0" 51706 10056 sw11372;dbsnp26026 BI2L1_HUMAN;NP_061330.2 "A153S,A153T,A448T,E216K,G26R,K387R,N490K,R170S,R511Q,S278F,S460T,T124I,T81I,V112M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55971 6456 sw11373;sws1268;dbsnp2457 ZNHI2_HUMAN;NP_055020.1 "A169D,A176V,E155K,Q255R,R337Q" "0,0,0,0,0" 741 8524 sw11374;dbsnp10837 SRTD1_HUMAN;NP_037508.2 "A84T,C164S,R8W,T31A" "0,0,0,0" 29950 12201 sw11375;dbsnp9682 MED13_HUMAN;NP_005112.2 "A1370P,A1370T,A1385P,A2037V,D1187E,D1187N,I95V,L246W,S1548G,T39A" "0,0,0,0,0,0,0,0,0,0" 9969 349 sw11376;dbsnp4143 GPN3_HUMAN;NP_057385.3 "A52V,I155V,V244A,V50L,V8A" "0,0,0,0,0" 51184 10331 sw11378;spmut594;dbsnp11494 EMR2_HUMAN;NP_038475.2 "A314V,C167R,C500Y,C743F,D36N,E720D,F281L,G604S,H175P,H175R,K154I,L153F,L160V,L311M,L428F,L428P,L559V,L614F,M1T,M542V,N640S,Q188H,Q783H,R46H,R629Q,R786Q,S265C,S518R,S665F,T178N,T605I,T821M,V705L,Y292S,Y527S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 30817 3004 sw11379;sws1269;dbsnp19327 NRBP_HUMAN;NP_037524.1 "H460R,S310F,V365I" "0,0,0" 29959 6056 sw1137;dbsnp25044 SEGN_HUMAN;NP_008929.2 "A216V,D51Y,E34V,G30C,L137V,L150Q,R131H,R168W,R251H,R79W,V255L" "0,0,0,0,0,0,0,0,0,0,0" 10590 11340 sw11380;dbsnp18109 FEZ2_HUMAN;NP_005093.2 "P50L,R329C" "0,0" 9637 8984 sw11381;dbsnp4747 NDUAC_HUMAN;NP_061326.1 "M93T,T104A" "0,0" 55967 14014 sw11385;dbsnp3802 GLSL_HUMAN;NP_037399.2 "L502F,L581F,L581P,Q562L,R149Q" "0,0,0,0,0" 27165 4379 sw11386;dbsnp20931 SCNBA_HUMAN;NP_054858.2 "A32V,A582T,C1543Y,D1361N,G1022C,G1736V,G481E,I201F,K419N,L850P,M777R,M887T,N1044K,N157I,N1760K,P738L,Q366R,R1046Q,R370H,R60S,R86G,T1609I,V909I,Y1198H,Y1627H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11280 568 sw11387;spmut2238;dbsnp21109 TSP50_HUMAN;NP_037402.1 "A178T,P182L,P224L,Q75P,R193W,R239C,R258Q,S163P,V8I,V98I" "0,0,0,0,0,0,0,0,0,0" 29122 8895 sw11388;dbsnp26182 CBPA4_HUMAN;NP_057436.2 "A261S,A88T,D332N,D372E,G303C,G364R,K162R,L27F,M413T,P157T,R183L,R417L" "0,0,0,0,0,0,0,0,0,0,0,0" 51200 7840 sw11390;dbsnp539;dbsnp540;hgmd0613_1642 CTNA3_HUMAN;NP_001120856.1;NP_037398.2 "A153P,A530S,A689V,D202G,D278N,D529E,D71H,E634K,L399I,L858S,R378H,R535C,R646C,S160T,S52L,S596N,T485S,T552M,V398I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29119 2579 sw11391;dbsnp17702 CYH4_HUMAN;NP_037517.1 "A9T,F147L,I390T,M74V,N107H,V125I" "0,0,0,0,0,0" 27128 8575 sw11392;dbsnp28275 XPO7_HUMAN;NP_055839.3 "C835Y,E398D,K312R,P960S,R558H" "0,0,0,0,0" 23039 1760 sw11393;dbsnp10788 ZN230_HUMAN;NP_006291.2 "A128S,A82V,C170G,C235Y,D441E,F434Y,G232D,G78S,H53Y,L295I,P223L,R184C,R456H,S310C,T213A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7773 4016 sw11394;dbsnp13003 TEKT2_HUMAN;NP_055281.2 "A229V,A334E,D303A,D90N,E145K,G211S,G337S,I114T,I126T,K423E,L82V,Q282K,Q29R,R177Q,R207H,R372Q,R413L,R413P,R46C,R61G,V208A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27285 7949 sw11395;dbsnp13945 MUTYH_HUMAN;NP_036354.1 Q411R 1 4595 5862 sw11396;dbsnp18046 BAZ2B_HUMAN;NP_038478.2 "C1844W,D1320V,D1805N,G702V,H326P,L422S,M71T,N2000S,P530L,S2024N,S249P,V1626L,V28I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 29994 351 sw11397;dbsnp3703 BAZ2A_HUMAN;NP_038477.2 "A1188V,G1141R,G1211D,L421V,P1208L,P1301S,P245S,Q632H,R1443Q,R738Q,S1184C,T432A,V498E" "0,0,0,0,0,0,0,0,0,0,0,0,0" 11176 485 sw11398;dbsnp24740 PS1C2_HUMAN;NP_054788.2 "A103V,G25D,G51S,L3F,L83P,N4S,P30A,P77S,P84L,P84S,R71C" "0,0,0,0,0,0,0,0,0,0,0" 170680 14153 sw11399;dbsnp24538 PS1C1_HUMAN;NP_054787.2 "A58S,E34G,E34K,E34Q,E35G,E35K,G15S,P133L,P24T,P43S,R37H,R45Q,S32R,S32T,S33C,S66C,T36S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 170679 13885 sw1139;dbsnp375;hgmd0613_1500 NEBL_HUMAN;NP_006384.1 "A219D,A592E,A592V,A685V,D378H,E303G,G202R,I621V,I828V,K60N,K64R,M351V,N654K,P4L,P72T,Q128L,Q187H,Q660K,R613Q,R694W,S863C,S885F,T728A,V332I,V538L,V686A" "0,1,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10529 11492 sw113;dbsnp8912 FA83G_HUMAN;NP_001035088.2 "I109T,R279W,R630W,T184S,V207M,V526I,V727I,Y119H" "0,0,0,0,0,0,0,0" 644815 3070 sw11400;dbsnp6502 SO3A1_HUMAN;NP_037404.2 D699A 0 28232 3973 sw11401;spmut862;dbsnp22179 HERC5_HUMAN;NP_057407.2 "A301T,C302S,D103G,D558G,E903K,G723R,K764N,L372F,M464V,M498V,R334C,S410R" "0,0,0,0,0,0,0,0,0,0,0,0" 51191 2008 sw11403;spmut456;dbsnp6779 DAPK2_HUMAN;NP_055141.2 "M6V,P340L,R271W,R273Q,R41Q,R57Q,R60Q,R60W,R68Q,S252I,V336M" "0,0,0,0,0,0,0,0,0,0,0" 23604 933 sw11404;dbsnp24676 KIF25_HUMAN;NP_085118.2 "A255T,A258E,A41T,D129G,D89E,E227G,G168D,G330V,I122V,K153T,K28M,L104I,L286V,M1I,N253I,Q39K,R10H,R156W,R264P,R316W,S171L,S38F,T229P,V302I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3834 8916 sw11405;dbsnp25317 FKBPL_HUMAN;NP_071393.2 "A90T,N28S,T46R" "0,0,0" 63943 9692 sw11406;dbsnp23323 LCAP_HUMAN;NP_005566.2 "A763T,A868T,E60V,G388D,I166M,I963V,K1019R,K32E,N594I,N730S,N850S,P38R,P641S,Q405R,R89Q,R89W,S197A,S86P,S913T,T930A,V373I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4012 2000 sw11407;dbsnp24696 BTNL2_HUMAN;NP_062548.1 "A202V,A244P,A273V,A352T,C50R,D118N,D283V,D336N,F450S,G143D,G145R,G145V,G371E,G454C,G454R,K196E,M295V,M380I,N249I,P379L,P393Q,R181Q,R192H,R281K,S149N,S231L,S334L,S360G,S360I,T165I,T401M,V188M,V61M,W94R,Y268H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56244 7489 sw11409;sws1272;dbsnp5731 SIX4_HUMAN;NP_059116.3 "D636H,E760K,H605P,N593I,N720I,P701A,R712H,S655T,T432A" "0,0,0,0,0,0,0,0,0" 51804 3354 sw11410;dbsnp10336 SPB13_HUMAN;NP_036529.1 "A141V,F57L,G293S,I27M,L42F,P359R,T63M,Y127C" "0,0,0,0,0,0,0,0" 5275 8777 sw11411;dbsnp18459 VAX2_HUMAN;NP_036608.1 "L139M,L210P,P240Q,P254R,R101W,R130H,R137C,R24G" "0,0,0,0,0,0,0,0" 25806 10036 sw11412;dbsnp16627 KCNG1_HUMAN;NP_002228.2 "G163D,I304M,L317P,Y169H" "0,0,0,0" 3755 6331 sw11413;dbsnp24736 TSYL4_HUMAN;NP_067680.3 "A19D,A78T,E371K,P28L,R157S,R30L" "0,0,0,0,0,0" 23270 8300 sw11414 NAGK_HUMAN "A60V,W38R" "0,0" 55577 8810 sw11415;spmut373 CLC4K_HUMAN V278A 0 50489 10186 sw11416;dbsnp22128 ANX10_HUMAN;NP_009124.2 "F234S,I241T,L195V,M62T,M71L,R208W,R277K,R47C,R52M,R65Q,R65W" "0,0,0,0,0,0,0,0,0,0,0" 11199 10300 sw11417;dbsnp5107 ZMYM5_HUMAN;NP_001136156.1 "C137F,G181E,H278Y,H653R,I125V,I456T,N208K,N299H,N355I,Q14H,R260Q,R566W,R80G,S102P,S362G,S448L,T165N,T231A,T237N,V629I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9205 4387 sw11419;dbsnp16064 MCM8_HUMAN;NP_115874.3 "A276P,A427P,A737T,A98P,C155Y,D494E,D88H,E341K,G655E,G671V,H161R,I138M,I141V,I557V,I717V,I794V,K101N,L109V,L282F,N183S,N785S,Q63K,R278C,R687Q,R801Q,S365N,T285M,T619I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84515 2961 sw1141;dbsnp1683 ERG24_HUMAN;NP_003264.2 "A119V,G306E,P282L,R216Q,T299I" "0,0,0,0,0" 7108 4966 sw11420;dbsnp16076 TRM6_HUMAN;NP_057023.2 "E293K,E299G,E366G,K43R,P333L" "0,0,0,0,0" 51605 6716 sw11421;dbsnp24964 ENPP5_HUMAN;NP_067547.1 "D257N,D94Y,I171V,I69V,L6I,R312Q,R39P,T133P,Y283C,Y309C" "0,0,0,0,0,0,0,0,0,0" 59084 7063 sw11422;dbsnp7560 RUSD1_HUMAN;NP_478072.1 "E124Q,G270C,I107M,K32N,L247P,P260T,R104P,R104Q" "0,0,0,0,0,0,0,0" 113000 10618 sw11423;dbsnp13699 ZN643_HUMAN;NP_075558.2 "A455V,C115Y,C505W,D395E,E12K,E165G,G359R,H269Y,H521Y,P390H,P474R,Q208K,Q438R,R221T,R251H,R299I,R299K,S375N,T278A,T351I,T432S,Y107S,Y363C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65243 6076 sw11424;spmut635;dbsnp14941 ERRFI_HUMAN;NP_061821.1 "D109N,D277N,I158L,P239L,P320L,R245K,S189P" "0,0,0,0,0,0,0" 54206 7368 sw11425;dbsnp24425 ZN391_HUMAN;NP_001070249.1 "G59C,K51R,P84L,T206N" "0,0,0,0" 346157 3578 sw11426;spmut1096;dbsnp16245 LAMP5_HUMAN;NP_036393.1 "A88T,D12G,I81V,Q103E,S158G,V218F" "0,0,0,0,0,0" 24141 11275 sw11428;dbsnp16142 CT079_HUMAN;NP_848578.1 "G121S,P99S,W2R" "0,0,0" 140856 13800 sw1142;spmut1807;dbsnp25353 RNF8_HUMAN;NP_003949.1 "A162T,I473V,R91H,R91L" "0,0,0,0" 9025 6912 sw11430;dbsnp8835 TBD_HUMAN;NP_057345.2 "I139V,M302I,M76T,P373L" "0,0,0,0" 51174 7532 sw11431;sws1276;dbsnp11470 TSKS_HUMAN;NP_068379.1 "D382G,E167K,E462D,G364S,Q165K,R156Q,R511T,S272G,S279F,S403F,S77L,T570M,V161M,V402L,V82M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60385 5246 sw11432;dbsnp11499 ZF112_HUMAN;NP_001076804.1 "E446Q,E780A,F159L,G163E,H276P,I158T,I418V,K228R,K834I,K890N,M241V,M87V,P285L,P54S,Q462P,R106H,S762L,T287K,Y389F,Y443C,Y485H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7771 2540 sw11433;dbsnp30140 TRIM1_HUMAN;NP_036348.2 "A378D,K546R,P713S,R328W,S521I,V331I" "0,0,0,0,0,0" 11043 3745 sw11434;sws1278;dbsnp27844 PURG_HUMAN;NP_037489.1 "E143K,E241A,Q218L,S26G" "0,0,0,0" 29942 9741 sw11435;dbsnp23407 DCTN4_HUMAN;NP_057305.1 "F342L,P95T,R410C,S438N,Y263C" "0,0,0,0,0" 51164 7272 sw11436;dbsnp24531 TINAG_HUMAN;NP_055279.3 "A252V,A465T,C95R,I433L,K407N,L408P,P199L,P337A,Q22R,R157H,R191C,R381H,R381P,S158P,S25A,S437F,T3A,V342I,V413I,W432G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27283 7087 sw11437;spmut525;dbsnp17063 DNM3L_HUMAN;NP_787063.1 "D89N,G129R,R186K,R271Q,R278G,V182M,V61I" "0,0,0,0,0,0,0" 29947 8861 sw11438;dbsnp11179 ZN229_HUMAN;NP_055333.2 "E115K,E235G,E465K,G513R,G662R,G804R,R257C,R337C,R812Q,R812W,S156F,S417N,S417R,T211I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7772 3062 sw11439;dbsnp11237 ZN180_HUMAN;NP_037388.2 "A41V,C272S,D160E,D193H,G274R,H284Q,H284Y,H289R,H371R,I279T,I453T,L205V,R278C,R2H,R615K,T300A,T404N,W89C,Y465C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7733 4145 sw1143;dbsnp25 SYUG_HUMAN;NP_003078.2 "A104V,A89T,E110K,E110V,V3I,V55A" "0,0,0,0,0,0" 6623 14078 sw11440 OSGI1_HUMAN "L59V,M57L,N34T,P6L" "0,0,0,0" 29948 5687 sw11441;dbsnp23265 CDC23_HUMAN;NP_004652.2 "E78Q,P9L,T5I,V185L" "0,0,0,0" 8697 5175 sw11442;sws1280;dbsnp22400 APC4_HUMAN;NP_037499.2 "E800G,N531S,R465Q,S103F" "0,0,0,0" 29945 3157 sw11444;dbsnp7438 GGA2_HUMAN;NP_055859.1 "A424P,D145N,D288N,R271K,R317Q" "0,0,0,0,0" 23062 4993 sw11445;dbsnp29189 STML2_HUMAN;NP_038470.1 "L129P,R201W,V283I" "0,0,0" 30968 9521 sw11446;dbsnp20066;dbsnp20067;dbsnp20069 CC018_HUMAN;NP_057294.2;NP_001165211.1;NP_001165212.1 "A122T,A162V,A8D,T70M" "0,0,0,0" 51161 13681 sw11447;dbsnp12011 ZN225_HUMAN;NP_037494.2 "G368R,I140T,K438Q,K603R,P455R,Q50R,R352H,T679S" "0,0,0,0,0,0,0,0" 7768 4016 sw11448;dbsnp11671 ZN223_HUMAN;NP_037493.3 "D179H,F428C,F478Y,G324S,H391R,I326V,L138I,L60I,P147S,P427T,R440Q,R74K,S476A,T336M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7766 4016 sw11449;dbsnp11074 ZN222_HUMAN;NP_037492.2 "A2S,C122Y,E120K,G263D,H419P,I16V,K50E,L134F,L22V,N121S,N99S,Q118H,R409Q,R433H,R82G,V330I,V58F,W324S,Y139H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7673 4016 sw1144;dbsnp22020 PDE5A_HUMAN;NP_001074.2 "A93V,D803A,E119V,G870S,I465T,I778T,K480Q,L351V,L641P,N439D,R3P,R3Q,R740K,R88H,S181A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8654 2734 sw11450 ZN221_HUMAN "A337P,C256R,F179I,G557R,S519T,V165M" "0,0,0,0,0,0" 7638 4016 sw11451;sws1283;dbsnp14979;hgmd0613_1290 KCND3_HUMAN;NP_004971.2 "A646S,G600R,K214R,L450F,M525V,R549H,R568C,S530R,T486A,V392I" "0,1,0,1,0,0,0,0,0,1" 3752 4536 sw11452;dbsnp12894 FBX2_HUMAN;NP_036300.2 "K118T,S155G,V139M" "0,0,0" 26232 10959 sw11454;sws1284;spmut1089;dbsnp29903 KS6A6_HUMAN;NP_055311.1 "D692N,H132P,H662R,M707V,R740Q" "0,0,0,0,0" 27330 3662 sw11455;dbsnp21929 NOCT_HUMAN;NP_036250.2 "A11V,H140Y,K176R,T134A" "0,0,0,0" 25819 7934 sw11456;spmut970;dbsnp5095 ING1_HUMAN;NP_005528.3 "A26P,A335D,C358S,E196D,G29A,L125R,N359S,P319L,Q233E,S78C" "0,1,1,0,0,0,1,0,0,0" 3621 8111 sw11458 F208A_HUMAN V998I 0 23272 670 sw11459;spmut2296;dbsnp13316;dbsnp13317 UBP21_HUMAN;NP_001014443.1;NP_036607.3 "A342D,G321D,P336T,P91A,P91S,R11C,R130H,R13Q,R338C,R50Q" "0,0,0,0,0,0,0,0,0,0" 27005 5618 sw1145;dbsnp14687 DFFB_HUMAN;NP_004393.1 "A131T,E57V,K277R,L236S,P61S,R196K" "0,0,0,0,0,0" 1677 9940 sw11460;dbsnp11026 DKKL1_HUMAN;NP_055234.1 "A29T,D107N,E214K,G187S,L104I,L24R,M109R,R166Q,R228Q,R240Q,R79Q,T156M" "0,0,0,0,0,0,0,0,0,0,0,0" 27120 12080 sw11461;dbsnp28872 FBX10_HUMAN;NP_036298.2 "A691T,H212N,M933I,R382H,R44C,S111R" "0,0,0,0,0,0" 26267 2304 sw11462;dbsnp1712 FBX3_HUMAN;NP_036307.2 "E421G,H92Y,I90T,R465H,V221I,V340M" "0,0,0,0,0,0" 26273 7185 sw11463;dbsnp5178 AKA11_HUMAN;NP_057332.1 "A1346S,A1372T,D1005N,E197Q,E229K,E902G,F1318C,F1623C,G1525S,G1531S,G572R,H1070R,I183M,I345V,I515V,I518V,I947V,K571N,L1410F,N105S,N748S,N934S,P1317L,P1782A,R1110W,R1626C,R603H,R610C,R903H,S1074F,S1892L,S721C,S736L,S873N,T1030A,T1459A,T670M,V1309I,V884L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11215 487 sw11464;dbsnp14623;dbsnp14626;dbsnp14628;dbsnp14629 RCAN3_HUMAN;NP_001238908.1;NP_038469.1;NP_001238907.1;NP_001238906.1 "D162N,K7R,T236N" "0,0,0" 11123 13317 sw11465;dbsnp882 DJC12_HUMAN;NP_068572.1 "A144T,C129W,M124I,S160F" "0,0,0,0" 56521 13008 sw11466;spmut70;dbsnp12959;dbsnp12960 AJAP1_HUMAN;NP_001035943.1;NP_061324.1 "A35V,G202D,G263R,I294V,R243Q,T178S,T219A,T376M" "0,0,0,0,0,0,0,0" 55966 8360 sw11467;spmut2180;dbsnp20898 TNIK_HUMAN;NP_055843.1 "A999P,A999T,E907A,G910E,I1160T,K778E,P930S,R432P,R545Q,R821H" "0,0,0,0,0,0,0,0,0,0" 23043 1048 sw11468;dbsnp13858 ADA30_HUMAN;NP_068566.2 "A337S,A681V,D424E,I45V,K123E,L359P,M585T,N222S,S384L,S453P,T128I,T20A,T737A,V740G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11085 3289 sw11469;sws1286;dbsnp22201;dbsnp22202;dbsnp22203;dbsnp22204 ADA29_HUMAN;NP_001124177.1;NP_001124176.1;NP_001124175.1;NP_055084.3 "D131N,D345N,E111K,E155K,E176K,E503K,G305E,G403D,G434D,H533Y,H751Q,I257F,I65F,I89M,K421N,L72F,M782T,P627S,P734T,Q753R,Q769H,R213H,R804S,S112F,S115F,S234F,S813G,T308I,T712I,T746M,T800I,V227A,V736A,W735R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11086 3088 sw1146;dbsnp16609 WISP2_HUMAN;NP_003872.1 "E136K,G167E,G3D,P193T,R108Q,R38Q,R59Q,T207I" "0,0,0,0,0,0,0,0" 8839 11908 sw11470;sws1287;spmut415;dbsnp18252 CPSF3_HUMAN;NP_057291.1 "E142G,G641R,K473R,N645S" "0,0,0,0" 51692 4232 sw11471;sws1288;dbsnp20832 DP13A_HUMAN;NP_036228.1 "A108V,D334E,E630Q,E67G,E700G,P421L,R149H,R478H,S673C,T105A" "0,0,0,0,0,0,0,0,0,0" 26060 3989 sw11472;dbsnp26762 S13A4_HUMAN;NP_036582.2 "I569V,M581L,N299S,P451S,V590I,V95M" "0,0,0,0,0,0" 26266 4838 sw11474;dbsnp17742 VPRE3_HUMAN;NP_037510.1 "R4W,R72C,R79Q,V47I" "0,0,0,0" 29802 14360 sw11475;spmut2166;dbsnp18171 TLK1_HUMAN;NP_036422.3 "D625V,I164V,N187S,N730S,N730Y,R121C,V427I" "0,0,0,0,0,0,0" 9874 3432 sw11477;dbsnp26584 PILRB_HUMAN;NP_839956.1 "D92N,I63T,N66D,N66S,R116Q,V64A" "0,0,0,0,0,0" 29990 10801 sw11478;spmut1541;dbsnp26136 PILRA_HUMAN;NP_038467.2 "K106E,K184E,M45V,P238L,P258S,P86L,R228W,R78G,S279L,S83G" "0,0,0,0,0,0,0,0,0,0" 29992 10801 sw11479;dbsnp8681;hgmd0613_545 GPTC8_HUMAN;NP_001002909.1 "A323V,A693V,A979P,C1161W,D1236G,D35E,E313D,E620K,G1053S,G271R,G649D,H1012Q,H687R,K435N,L1145I,N1158S,P1205T,P1247H,R1043Q,R1168T,R689C,R748Q,R853H,R864H,R957W,R992C,S1185N,S1259G,S962C" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23131 823 sw11480;dbsnp4901 PARP4_HUMAN;NP_006428.2 "A1331T,A1361E,A1469G,A1656P,A899T,D1064Y,D1625E,D265N,E1259D,F215Y,F589L,G1265A,G1280C,G1280R,G1450V,G165S,G496V,G612S,H1438R,H404Y,H490Q,H803R,I1564R,I1564T,I633M,I81V,K1608I,K509R,K724T,K991R,L1080F,L1080R,L118V,L1550P,L340P,L427F,L694R,M1043T,M196V,M936T,M936V,P1328T,P525L,P792L,P995L,Q20R,Q897E,R1108C,R1181K,R1278H,R462C,R809L,S122N,S1253T,S1394A,S1459Y,S38F,S873N,S926L,T1170I,T1385I,T786S,V1012I,V1065A,V169G,V458I,V69I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 143 612 sw11481;spmut1404;dbsnp860 NUDT5_HUMAN;NP_054861.2 "I123T,L136S,M37V,M87I" "0,0,0,0" 11164 12551 sw11482;dbsnp24956;dbsnp24957;dbsnp24958 C8AP2_HUMAN;NP_001131140.1;NP_036247.1;NP_001131139.1 "A1736P,A1736T,A1884V,A868V,D980G,G237D,G647S,H1476Y,I446T,I791R,K1284R,M1463T,M1463V,N906S,P1659S,R972H,S1156R,S1893P,T1169A,T1282P,V218G,V49L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9994 435 sw11483;spmut1600;dbsnp9536 PPCT_HUMAN;NP_067036.2 "C63Y,E10A,G95R,V103G,Y52H" "0,0,0,0,0" 58488 12655 sw11484;spmut1159;dbsnp28477;hgmd0613_1796 MA1B1_HUMAN;NP_057303.2 "A294V,A91V,C4Y,E116G,E397K,F113L,G13A,G288S,G477R,H573Y,I102L,K478R,N59S,P197L,P201L,P236L,Q579R,R265H,R334C,R410C,R500Q,R582C,S680T,T496M,V135I" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 11253 4086 sw11485;dbsnp16653 RALY_HUMAN;NP_057951.1 "A213E,A273V,G251S,G279R,G279S,I108V,I19F,I19V,Q215R,R274W,V139M" "0,0,0,0,0,0,0,0,0,0,0" 22913 10736 sw11486 MUC12_HUMAN T4775R 0 10071 18 sw11488;dbsnp29398 TF3C4_HUMAN;NP_036336.2 "G234R,H243R,H323Y,I565M,N505S,P110S,P229L,Q637L,S312F" "0,0,0,0,0,0,0,0,0" 9329 3081 sw11489;dbsnp6555 ATS7_HUMAN;NP_055087.2 "A1019T,A1033T,A1089V,A1405T,A424V,A546T,D1075A,D450N,E562K,E817K,E979K,G1079E,G1414S,G1583A,G974S,G999D,H1101R,H1386D,H334Q,I291T,K571R,M556V,P1096T,P1242L,P126L,R1029C,R1094Q,R1678Q,R218H,R226Q,R227Q,R232C,R352Q,R430C,R596H,R645Q,R851Q,R902H,R995W,S1175P,S1238P,S1244C,S214P,T1189A,T1189N,T1319A,T307M,T342I,T973I,V1287I,V1305G,V1388A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11173 655 sw11490;sws1289;dbsnp9660 UR2R_HUMAN;NP_061822.1 "A70P,A70T,P105T,P8R,R124H,V121L" "0,0,0,0,0,0" 2837 8822 sw11491;sws1290;dbsnp27743 ADA28_HUMAN;NP_055080.2 "A68T,E226D,E43D,G134E,G450E,G500R,G502D,G65E,H147N,K625Q,K696Q,L180W,L702P,M337T,M684I,N159K,N493S,Q50R,R148L,R219M,R219S,S482F,T593K,T604P,V322I,V765M,Y107N,Y352S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10863 3409 sw11492;dbsnp12079 KLK13_HUMAN;NP_056411.1 "G18A,G97A,H109Y,S23F,T117P" "0,0,0,0,0" 26085 11328 sw11493;dbsnp10852 TSN16_HUMAN;NP_036598.1 "A41D,G31R,G48R,L55P,M94V,R191H,R234H,S233C,T126A,T68M,Y53D" "0,0,0,0,0,0,0,0,0,0,0" 26526 12012 sw11494;dbsnp2205;dbsnp2206;dbsnp2207 PACN3_HUMAN;NP_057307.2;NP_001171904.1;NP_001171903.1 "A2P,A2T,A424T,A61V,A7T,E108G,G404D,R191W,R28W,R385Q,R62Q,T169M,T209M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 29763 8066 sw11495;dbsnp19099 IKZF2_HUMAN;NP_057344.2 "I468M,I6T,M227I,M316V,N35S,N362D,N93S" "0,0,0,0,0,0,0" 22807 5341 sw11496;spmut679;dbsnp24673 FBX5_HUMAN;NP_036309.1 "A19P,C36F,D270Y,L164F,Q107E,R445Q,T130A,Y390C" "0,0,0,0,0,0,0,0" 26271 7642 sw11497;spmut678;dbsnp24106 FBX4_HUMAN;NP_036308.1 "I276S,I377M,L23Q,M181T,P13S,P76T,R261Q,S12L,S8R,Y237H" "0,0,1,0,1,1,0,1,1,0" 26272 8856 sw11498;dbsnp22969 FXL21_HUMAN;NP_036291.2 "C337Y,F76L,H77Y,N336S,P189A,P189T,P209L,R323H,S162L,T37M" "0,0,0,0,0,0,0,0,0,0" 26223 7882 sw1149;dbsnp13289 JTB_HUMAN;NP_006685.1 "G75S,I83S,K134R,L16F" "0,0,0,0" 10899 13995 sw114;dbsnp13516 O14I1_HUMAN;NP_001004734.1 "D50N,E194G,G259A,G27R,I47T,L128H,L64P,L84M,M299V,R81H,S170N,S231G,T252I,T48N,V166I,V182M,V205L,V304E,V36A,Y216C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401994 10628 sw11500;sws1293;spmut39 ACINU_HUMAN A447P 0 22985 1080 sw11501;dbsnp14278 VAV3_HUMAN;NP_006104.4 "A632V,A8V,D139N,G614E,P456L,P616S,P671T,Q618H,R246W,R379H,T298S,T819I,V153A,V153G,V625I,W25R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10451 11163 sw11503;dbsnp8914 MYH13_HUMAN;NP_003793.2 "A1128V,A1398V,A847T,D1076E,D1614H,E1299D,F249V,G701R,H1862R,I1274F,M1071V,M1279I,R1294Q,R1438C,R1822W,R667S,T237I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8735 434 sw11504;spmut994;dbsnp6577 ITA11_HUMAN;NP_001004439.1 "E884V,L1093V,L524R,M1003I,M471L,N82K,P972L,Q891K,R407H,T801R,V433M" "0,0,0,0,0,0,0,0,0,0,0" 22801 1456 sw11505;dbsnp16257 PRND_HUMAN;NP_036541.2 "A115V,F70L,H31R,I68T,L149S,P56L,S22P,S6I,T12A,T174M,T26M,T26P" "0,0,0,0,0,0,0,0,0,0,0,0" 23627 13438 sw11507;sws1295;dbsnp29759 TEN1_HUMAN;NP_055068.2 "A1578T,A174D,A174T,A559P,E369K,G1514E,H2185L,I1171M,I1219V,I1359T,I830R,K515Q,K641E,L2034R,L2183F,M371T,M632V,N2712S,P1018S,P1166R,P1235S,R2199Q,R2330Q,T1665M,V1062L,V928M,Y40H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10178 180 sw11508;dbsnp21010 PCOC2_HUMAN;NP_037495.1 "G219R,I78L,P292T,Q278R,R102C,R105H,R204Q,R303Q,V240M,V280A,V336I" "0,0,0,0,0,0,0,0,0,0,0" 26577 8279 sw11509;dbsnp25158;dbsnp25159 DSE_HUMAN;NP_001074445.1;NP_037484.1 "A408T,C18F,F12Y,I282V,L896R,M32T,P34L,R654Q,R70H,R879W,R884Q,S707C,T215M,T25I,T921A,V381A,W948R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29940 2291 sw1150;dbsnp11818 OR7C1_HUMAN;NP_945182.1 "E159K,E171K,F17I,G147R,L187F,L250W,L66P,N196Y,P129L,Q24H,R233K,S210P,S99G,T170I,V126I,V247L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26664 10316 sw11510;dbsnp28453;dbsnp28454;hgmd0613_1571 SARDH_HUMAN;NP_001128179.1;NP_009032.2 "A333V,A782V,D769N,E299D,E372D,E37K,E490K,E678K,G22C,G260D,G418D,G731R,I155V,K884N,L199F,M169V,M648V,M90I,N158S,P287L,R280Q,R432C,R432H,R481H,R600Q,R614H,R61Q,S448L,S53L,S789G,T189I,T379M,V297I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 1757 2510 sw11511;dbsnp6277;dbsnp6278 BAG5_HUMAN;NP_001015048.1;NP_004864.1 "C157W,R235Q,S31T" "0,0,0" 9529 6877 sw11512;dbsnp14748 CCD19_HUMAN;NP_036469.2 "D222G,E189Q,E291G,E463G,M311T,R227Q,R236Q,R24H,R317C,R441Q,R493G,R493W,R511H,R513L,R58Q,R74C,T94K,V30M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25790 5827 sw11513;dbsnp8962 TBX21_HUMAN;NP_037483.1 "H33Q,I339V,R218H,S418P,Y395C" "0,0,0,0,0" 30009 6057 sw11514;dbsnp1770 TIG3_HUMAN;NP_004576.2 "A162V,E63G,T118A,V69L" "0,0,0,0" 5920 11292 sw11515;dbsnp10300 ZN236_HUMAN;NP_031371.3 "A818T,C1056G,D1461Y,D782G,I613V,P614S,Q642P,S166L,S643G,S696F,T889M" "0,0,0,0,0,0,0,0,0,0,0" 7776 529 sw11516;dbsnp30001 PNMA3_HUMAN;NP_037496.3 "C10S,E32K,G382S,M159I,R18G,R293C,R386Q,R408W,S173C,V289M,V377A" "0,0,0,0,0,0,0,0,0,0,0" 29944 7351 sw11517;dbsnp27520 PNMA2_HUMAN;NP_009188.1 "E186K,E326D,I228L,N61S,N63S,P156S,R57W,S138L,S180C" "0,0,0,0,0,0,0,0,0" 10687 9326 sw11518;dbsnp5806 PSME2_HUMAN;NP_002809.2 "A62D,H89P,L46F,R171H,R61Q" "0,0,0,0,0" 5721 12147 sw11519;dbsnp16602 TCFL5_HUMAN;NP_006593.2 "E380D,G316D,N272D,P297H,R414H" "0,0,0,0,0" 10732 6672 sw1151;dbsnp11771 OR7AA_HUMAN;NP_001005190.1 "A25P,A273T,G271S,H266R,H269P,I225L,I46T,L27F,L36P,L44I,M151T,Q183E,R226H,S148F,S67C,T270S,V247D,Y216F,Y290C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390892 9535 sw11520;dbsnp12229;hgmd0613_730 HCN2_HUMAN;NP_001185.3 "E280K,R527Q" "0,0" 610 1410 sw11521;dbsnp21774 TM11E_HUMAN;NP_054777.2 "G194C,H158Q,P307A,R181Q,R191K,Y303C" "0,0,0,0,0,0" 28983 8092 sw11522;dbsnp1879 ZN215_HUMAN;NP_037382.2 "A288T,F237S,F301L,H373N,I127T,I400V,M119T,M119V,M227R,M376V,N36S,P160S,R368Q,S259N,S263F,S496I,S496N,V323L,V38I,Y189H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7762 6366 sw11523;dbsnp1700 ZN214_HUMAN;NP_037381.2 "A577E,C252R,C252Y,E551Q,G151S,G448R,H160R,H346Y,I185R,I347F,L128H,L128R,L514F,N600S,R168H,R233W,R510H,S177F,Y331C,Y66C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7761 5066 sw11524;dbsnp30334 TRPC5_HUMAN;NP_036603.1 "A546D,E892K,L538P,L738I,L777Q,R691W,R702H" "0,0,0,0,0,0,0" 7224 2174 sw11526;dbsnp19331 NRX1A_HUMAN;NP_004792.1 "L708I,L869M,M1313I,P429S,Y400N" "0,0,0,0,0" 9378 627 sw11527;dbsnp23306 CADH9_HUMAN;NP_057363.3 "A38V,A445G,A604T,E603G,H717R,K371T,R448W,Y6C" "0,0,0,0,0,0,0,0" 1007 3205 sw11528;dbsnp10433;dbsnp10434 CADH7_HUMAN;NP_004352.2;NP_387450.1 "D155N,D370E,I85V,N576S,S752R,T361M,V433D,V557I" "0,0,0,0,0,0,0,0" 1005 3046 sw1152;dbsnp25196 DOM3Z_HUMAN;NP_005501.2 "A332V,D63E,H261Q,M185T,N295S,R182Q,R294C,S28T,T13A,T341M,V315A" "0,0,0,0,0,0,0,0,0,0,0" 1797 8656 sw11530;spmut1203;dbsnp30692 MCTS1_HUMAN;NP_054779.1 "G24C,L106H,R72K" "0,0,0" 28985 13337 sw11532;dbsnp14389 PADI1_HUMAN;NP_037490.2 "A83V,D191G,E24K,E61K,K128M,M13T,M291I,P416L,R107C,R125H,R551H,R609C,R609S,R67H,T15A,T255I,T297M,V109M,V115I,V649M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29943 4429 sw11533;dbsnp359 OGDHL_HUMAN;NP_060715.2 "A877S,A940T,D573N,D897N,E378D,F734S,G605C,G936S,I353L,M296L,M340T,M340V,M600I,N725S,P511L,R10L,R195W,R196H,R629C,R958C,S356L,S623C,T637M,W220C,Y447C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55753 2014 sw11534;dbsnp27352 MTUS1_HUMAN;NP_001001924.1 "A149T,A563S,C103S,C148R,E1014K,E1105Q,E361K,E646Q,E680D,E999G,G628R,H575R,H593L,H82R,K1063T,K453T,K644Q,K911T,M333I,M418R,N1170D,N873H,Q1201R,Q75K,R795Q,S1259L,S211A,S267P,S467W,T186S,T207A,T425M,W208S" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0,0" 57509 1232 sw11535;dbsnp25485 BRPF3_HUMAN;NP_056510.2 "A278G,D399N,E1075K,G903D,H106Y,I374T,K98N,R766H,R973W,S1019G,S177G,V246I" "0,0,0,0,0,0,0,0,0,0,0,0" 27154 1404 sw11537;dbsnp23508 ZN608_HUMAN;NP_065798.2 "A240P,A261T,D213N,D952E,E1259A,G767R,K1299R,K708R,M1306V,N61I,P1357S,P445L,R1316Q,S102G,S1131T,S869L,T101S,T321M,T721N,V1246I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57507 811 sw11538;dbsnp29946 WWC3_HUMAN;NP_056506.2 "A143V,A266T,A495T,A659T,C616Y,D186N,E51K,E732Q,H677Y,I287V,I45V,L660V,P831L,R1019H,R1030T,R254Q,R441Q,R561H,R69H,R748Q,R892Q,R894Q,R949C,T185S,T873M,T947N,Y593C,Y712C,Y950C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55841 1745 sw11539;dbsnp25954 DEN2A_HUMAN;NP_056504.3 "E729K,I777T,P156H,S220L" "0,0,0,0" 27147 2073 sw1153;spmut2222 TRPM2_HUMAN "A1438S,D543E,D780E,E1359K,I1368M,N1249S,N52K,Q1189R,R1199W,S1201G,T1347M,V166I,V385M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7226 819 sw11540;dbsnp21881 F184B_HUMAN;NP_056503.1 "A796T,A885V,D275H,E249G,E853G,E887Q,G366A,G366S,H168Q,H663Q,K82R,L992R,N952S,P518T,P543L,Q524R,R593C,R643H,R701Q,R784W,R819W,R973C,S1022F,S542L,S976N,V1042A,V205M,V974M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27146 1853 sw11541;dbsnp338 PALD_HUMAN;NP_055246.2 "A342V,A494V,A648T,A671V,A851V,G828R,H720Y,K700R,P492L,P628L,R299C,R508W,R624C,R646Q,R646W,R721C,S141L,S219R,S37P,T250S,T345M,T466M,T517M,V115M,V178L,V199I,V309I,V552M,W233L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27143 2859 sw11542;dbsnp19089;dbsnp19090 S39AA_HUMAN;NP_065075.1;NP_001120729.1 "H194Q,H315R,H609Y,I321V,M740V,T87S,V272G" "0,0,0,0,0,0,0" 57181 3028 sw11543;spmut973;dbsnp6767 INO80_HUMAN;NP_060023.1 "A1388P,A1488T,A498S,E938G,E938K,I1327T,I882V,M315L,M315V,N151S,R1281Q,R1424P,R1556W,S1332L,V1108G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54617 772 sw11544;dbsnp6807;dbsnp6808 CCPG1_HUMAN;NP_065790.2;NP_004739.3 "A196G,A477V,A517D,D669N,E161V,G553D,G553S,H673R,K627E,N590K,N682S,R209H,R436L,S44P,T646I,Y235C,Y418H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9236 3165 sw11545;dbsnp18162 KDIS_HUMAN;NP_065789.1 "A1299G,A877T,I538T,L636I,M109R,N1108S,Q1608H,R1307H,S717L,T1235A,V857I" "0,0,0,0,0,0,0,0,0,0,0" 57498 575 sw11546;dbsnp27414 ASAP1_HUMAN;NP_060952.2 "E731D,I728V,K572R,N1063S,N509S,N55S,P990A,T788M,V609I,V620I" "0,0,0,0,0,0,0,0,0,0" 50807 1633 sw11547;dbsnp24931 LRFN2_HUMAN;NP_065788.1 "A189T,D260G,D770N,H245R,N363S,R258Q,R448Q,R775Q,S429Y,V131M,V377I,V738M" "0,0,0,0,0,0,0,0,0,0,0,0" 57497 3297 sw11548;dbsnp18865 ATD2B_HUMAN;NP_060022.1 "A1131S,G148E,N1223S,N732S,Q207R,S118P,V1351I" "0,0,0,0,0,0,0" 54454 891 sw11549;dbsnp22084 K1239_HUMAN;NP_001138462.1 "A1058T,A384T,A905T,D1636E,G714A,I758T,L569M,L706S,M180I,R1516C,R1569Q,R1648C,S1380N,S632A,T842M,V636I,V816L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57495 597 sw1154;dbsnp27581 RECQ4_HUMAN;NP_004251.3 "A1045T,A273T,A903V,A919T,E267D,E301K,E407K,E71G,E976K,G1105D,G1105S,G1113R,G189S,L1043P,P441S,P591L,P793L,P793S,P879H,P92S,P964T,Q54R,R1004W,R1005Q,R1021Q,R1021W,R1106H,R355Q,R522C,R522H,R715Q,R754W,S1148F,S523T,T504K,T837M,V565D,V799M,V990I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 9401 1397 sw11550;dbsnp20460 HEG1_HUMAN;NP_065784.1 "A1173E,A1256V,D218N,E158K,F1078C,F602S,G898D,M1039T,N314D,P720R,P748S,Q145R,R31Q,S305P,T562S,T912S,V920E,V980L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57493 1016 sw11551;dbsnp14548 ODF2L_HUMAN;NP_001007023.2 "A228T,E612Q,G586R,H35Y,I193M,K107R,K238N,K350R,K445E,L346V,L609I,R177H,R29Q,R467C,R467H,S631G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57489 4735 sw11552;dbsnp16947;dbsnp16948 ZN295_HUMAN;NP_001091872.1;NP_065778.3 "A451V,A522G,I329T,K218Q,N185S,N296S,P192T,P209L,P986L,R249I,T1012A,T128A,T453A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 49854 1838 sw11554;dbsnp394 GRID1_HUMAN;NP_060021.1 "A519P,C645F,D822N,M430V,P952L,R226H,V529I" "0,0,0,0,0,0,0" 2894 2074 sw11555;dbsnp25735 MED23_HUMAN;NP_004821.2 "P617Q,R123Q,S1285T,T151R,V1248I,V97G" "1,0,0,0,0,0" 9439 1036 sw11556;dbsnp14320;hgmd0613_1933 VANG2_HUMAN;NP_065068.1 "F437S,G40A,H281R,K295R,L242V,Q403H,R170Q,R31C,R353C,S84F,V178I" "1,0,0,0,1,0,0,0,1,1,0" 57216 6222 sw11557;dbsnp29717 K1210_HUMAN;NP_065772.1 "D864E,E1616G,E852A,G103V,I945F,L419F,M645T,P307T,P844A,R1032W" "0,0,0,0,0,0,0,0,0,0" 57481 632 sw11558;dbsnp25271 PKHG1_HUMAN;NP_001025055.1 "A1060V,A188G,A715T,A79V,A853V,C1145R,D668G,D948N,E642D,G1081E,G1170V,G1318S,H800L,L1321S,L245F,L465R,L899F,P72S,P798L,Q1377P,Q550R,Q787R,R1168Q,R126K,R464G,R474W,R981Q,S1124F,S815F,S864I,V1071A,V1147M,V212M,W1157C,Y799N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57480 1007 sw11559;dbsnp29795 PLXB3_HUMAN;NP_005384.2 "A1268T,A126T,A1411V,A1836V,C28Y,E1156D,E1591D,E1642D,E1651A,E1651G,E670K,G1325S,G813S,H719R,I978M,L288F,L451Q,M1535T,P793L,R102H,R1034H,R1160H,R1187H,R1541W,R1831C,R676H,R876W,S1104N,S1395N,T1335S,T1710N,T664I,V1596E,V598I,V675M,V86M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5365 464 sw1155;dbsnp8694 RECQ5_HUMAN;NP_004250.4 "D480G,H758Y,L64V,N335S,N917T,P775L,R687P,S2N,S628N,S815L,T19M,V910I,Y265S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9400 2141 sw11560;dbsnp29803 SHRM4_HUMAN;NP_065768.2 "A833T,A93T,C818Y,D827G,D970G,E1204G,E559K,E731G,E859K,F1368C,G430C,H147Y,H468D,I807T,K1313N,K958N,L1367F,M1049I,N1360S,N244S,P463T,P512A,P627S,P941S,R280Q,R583Q,R722H,R89K,S1089L,S1245L,S312N,S351R,T543S,W128C,Y170C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 57477 840 sw11561;dbsnp5638 PKHH1_HUMAN;NP_065766.1 "G677R,H735R,L788F,M438V,N75S,P1154S,P257H,Q113L,R322Q,R732Q,T430A,T695A,W693C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57475 1042 sw11562;dbsnp19948 YETS2_HUMAN;NP_060493.3 "A1000T,A1015T,F427S,I184V,N496S,P1103L,Q875H,Q993H,T1341A,T534K,V1097I,V530I,V693L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55689 952 sw11563;dbsnp8207 TBC24_HUMAN;NP_001186036.1 "A515V,D147H,F251L,F295L,R214H,R57C" "1,1,1,0,0,0" 57465 5706 sw11564;dbsnp26109 FA40B_HUMAN;NP_065755.1 "A104G,A34G,A370T,A62E,A703G,D386Y,G223E,I479S,R383Q,V629D" "0,0,0,0,0,0,0,0,0,0" 57464 2993 sw11565 TMCC3_HUMAN "P232Q,Y16D" "0,0" 57458 3990 sw11566;dbsnp18559;hgmd0613_1945 TTC7A_HUMAN;NP_065191.2 "A380T,D511G,D63E,E687D,G483R,H293P,I342M,K606R,Q377E,Q724K,Q828H,R146L,R146Q,R186C,R188H,R325Q,R515W,S116L,S446L,S53T,S672F,S672P,T653A,V281L,V450M,V538L,V545I,V621M,Y300C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57217 2848 sw11567;dbsnp5563 HECD1_HUMAN;NP_056197.2 "E1885K,I1426V,I1743T,L2027P,N1620S,P2474L,Q534E,Q656H,Q734P" "0,0,0,0,0,0,0,0,0" 25831 212 sw1156;spmut1788;dbsnp10824 RMP_HUMAN;NP_003787.2 "A154V,A324P,C167R,D198G,D316N,H499R,I195T,L22P" "0,0,0,0,0,0,0,0" 8725 6053 sw11571;dbsnp28361;dbsnp28363;hgmd0613_1603 CIZ1_HUMAN;NP_036259.2;NP_001124488.1 "A219T,E370G,L400P,L400Q,P47S,P50L,Q390H,Q394E,Q869E,R672M,R847Q,S264G,S577F,S578F,T645R,V279M,V443I,V638M" "0,0,0,0,1,0,0,0,0,1,0,0,0,0,0,0,0,0" 25792 2315 sw11573;dbsnp11536 CBLC_HUMAN;NP_036248.3 "D318Y,E392K,G165R,H405D,H405Y,K143E,K153T,L178F,L308F,M344V,P387T,P435S,R455T,R63W,T181I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23624 7132 sw11574;sws1301;dbsnp13696 PADI3_HUMAN;NP_057317.2 "A17P,A294V,A582T,C318Y,D221E,D233N,D245G,E126D,G127E,G431E,H638Y,I430T,I52V,I548V,K198R,L112H,N661H,P143S,P457S,P458T,P605T,R137Q,R210W,R248C,R248H,R552L,R557W,R60Q,R618Q,R618W,R69C,T187M,T286A,T443I,T581M,V171M,V357I,V48M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51702 4429 sw11575;dbsnp7412 NOB1_HUMAN;NP_054781.1 "G257S,G393E,K71N,Q353R,R231Q,R269C,S379P,S379T,S390G,T277A,T277M,Y366F" "0,0,0,0,0,0,0,0,0,0,0,0" 28987 8343 sw11576 YLAT1_HUMAN "A91V,R159C" "0,0" 9056 6398 sw11577;spmut1451;dbsnp13167 PADI4_HUMAN;NP_036519.2 "D260N,D483N,D89N,G112A,G242S,G55S,M164T,M1V,P102T,P424L,R131T,R609C,R650S,R8H,S275F,T189N,T79M,V293A,V74A,V82A,Y109C,Y309C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23569 4429 sw11578;dbsnp22832;dbsnp22833;dbsnp22834;dbsnp22835 APC10_HUMAN;NP_055700.2;NP_001243635.1;NP_001243636.1;NP_001243637.1 "M136V,R46Q" "0,0" 10393 13068 sw11579;dbsnp20563 HHLA2_HUMAN;NP_009003.1 "I30T,I40M,N344K,P392L,S364R,V60I" "0,0,0,0,0,0" 11148 8301 sw11582;dbsnp25379;dbsnp25380;dbsnp25381;dbsnp25382;dbsnp25383 PLAL1_HUMAN;NP_001074422.1;NP_001074423.1;NP_006709.2;NP_001074420.1;NP_001074421.1 "A272V,A314S,E214G,F4L,L49M,N304T,P240R" "0,0,0,0,0,0,0" 5325 7352 sw11584;dbsnp16220;dbsnp16221 SPAT2_HUMAN;NP_006029.1;NP_001129245.1 "A468T,D39N,G387R,L443F,P142L,R293H,R354W,R430W,S391T,V518M,Y257C" "0,0,0,0,0,0,0,0,0,0,0" 9825 6308 sw11586;sws1304;dbsnp11108 ICAM5_HUMAN;NP_003250.3 "A345T,A348T,A463T,P332R,R61W,T733K,V301I,V496M" "0,0,0,0,0,0,0,0" 7087 2473 sw11587;dbsnp10823 MLL4_HUMAN;NP_055542.1 "A2143D,D2364G,E2354K,G1307A,K2408N,P1097L,P1829L,P2293S,P587R,P754L,R287C,R585H,T172I,T498N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9757 191 sw11588;dbsnp25038 CAN11_HUMAN;NP_008989.2 "A297T,E21A,I131V,I521V,L142P,P412L,R506Q,S544R,S728N,V266M,V441A" "0,0,0,0,0,0,0,0,0,0,0" 11131 3710 sw1158;spmut2041;dbsnp19222 ST17B_HUMAN;NP_004217.1 "C334R,S320F" "0,0" 9262 8299 sw11591;spmut1611;dbsnp24888;dbsnp24889 PPT2_HUMAN;NP_001191032.1;NP_005146.4 "A34E,C5W,L197P" "0,0,0" 9374 10704 sw11592;dbsnp3642 CLC4A_HUMAN;NP_057268.1 "G41R,H140Y,H36L,R214I" "0,0,0,0" 50856 12182 sw11593;dbsnp18743;hgmd0613_544 NFU1_HUMAN;NP_001002755.1 "A51S,G208C,M25K,R96C" "0,1,0,0" 27247 11825 sw11594;dbsnp22176 SYNP2_HUMAN;NP_001122405.1 W1086R 0 171024 1251 sw11595;dbsnp17540 UBP18_HUMAN;NP_059110.2 "D25N,D33N,E303K,I323V,N325S,R119W,R238C,T169M,V179L,V99I" "0,0,0,0,0,0,0,0,0,0" 11274 9170 sw11596;spmut2073;dbsnp820;hgmd0613_1792 SUFU_HUMAN;NP_057253.2 "A138T,A340S,D338N,G294S,K125N,P15L,R280Q,R343H,R343L,T353M,V369I" "0,0,0,0,0,0,0,0,0,0,0" 51684 6936 sw11598 S45A2_HUMAN T500P 0 51151 6123 sw11599;dbsnp9497 SYNRG_HUMAN;NP_009178.3 "A40G,D182N,D471G,D746N,D987A,E997Q,F441Y,I702V,I925V,L956F,L964F,M242V,M311V,P109R,P920S,S789L,S822I,T222A,T222P,V1208I,V636A,V722I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11276 1139 sw1159;dbsnp28911 ECM2_HUMAN;NP_001384.1 "D274H,E222K,E278K,F682L,G312V,H507Q,L166F,L96S,M396L,N425H,P155L,P386L,P624S,Q56P,R204Q,R266C,R303Q,R315C,R397H,S213Y,S354P,S433R,T109S,V575A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1842 4078 sw115;dbsnp11686 ASPD_HUMAN;NP_001108070.1 "A270D,A91V,P6R,Q266R,R89H,V214L" "0,0,0,0,0,0" 554235 11215 sw11600 PTPRQ_HUMAN "A1120P,F1098L,I1734T,N1244D,R2121K,R281G,T1040I" "0,0,0,0,0,1,0" 374462 294 sw11601;spmut1334;dbsnp5769;dbsnp5770;dbsnp5773;dbsnp5774 NDRG2_HUMAN;NP_963834.1;NP_963833.1;NP_963831.1;NP_963293.1 "E26G,G48V,P363S,R254G,R97Q,S138Y,T45S,V131I" "0,0,0,0,0,0,0,0" 57447 8705 sw11602;dbsnp29745 AT1B4_HUMAN;NP_001135919.1 "I115V,I254T,R18H,R258H,T308S,T46M,V48A" "0,0,0,0,0,0,0" 23439 9500 sw11603;dbsnp23372 PCDB8_HUMAN;NP_061993.2 "A322V,C653R,D287E,E169K,E232G,E244Q,F702L,F767I,F767L,G472R,G569S,G682A,G682S,G759V,H513R,H660Q,I382T,K199N,K305E,L335M,L55P,L576P,L661V,L713R,M139I,P257S,P450A,Q251K,Q307H,Q567R,Q639H,R10K,R579Q,R579W,S456P,S544R,S745N,T453N,V234L,V250A,V338A,V710L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56128 3206 sw11604;dbsnp23528 PCDA7_HUMAN;NP_061733.1 "A439D,A439G,A503S,A587E,A587V,A663G,C472R,E101G,E111D,E692K,F622S,G383R,G571S,G763D,G97R,I883T,K124R,K652E,L497R,P774L,P827R,R138K,R794H,S442F,S88C,S893G,T662R,T931M,V336L,V343I,V499M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56141 2345 sw11605;dbsnp23730 PCDA6_HUMAN;NP_061732.1 "A512T,A692V,A771V,A786V,D111E,D237G,G430R,G97R,G97W,I896T,K766R,L585V,N209H,N386T,P840R,R502C,R681W,R807H,S417R,S536R,S536T,S906G,T573I,T944M,V2A,V60M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56142 2345 sw11606;dbsnp23445 PCDA4_HUMAN;NP_061730.1 "A39T,A412V,A484E,A564T,D149H,E513K,E55D,E783A,F133I,G366A,G546D,G72R,I162T,I298V,I893T,L528V,L59V,P134L,P184S,P657T,P837R,Q137P,R124S,R502C,R569W,R644C,R646L,R71H,R804H,R97G,S406L,S506N,S751T,S903G,T941M,V707L,W480G,Y307C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56144 2345 sw11607;dbsnp13866 SOX13_HUMAN;NP_005677.2 "G395S,P234A,P532S,R358Q,Y491C" "0,0,0,0,0" 9580 4883 sw11608;dbsnp29879 GBRT_HUMAN;NP_061028.2 "F478I,L119F,L15I,R376H,R485H" "0,0,0,0,0" 55879 4773 sw11609;dbsnp16914 ATS5_HUMAN;NP_008969.2 "A448V,E329K,G138A,G577S,G88C,H310Y,H62R,K869I,L244F,L692P,P63T,R614H,R814S,R96W,T135K,T746A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11096 2431 sw1160;dbsnp28355;hgmd0613_1120 DPM2_HUMAN;NP_003854.1 "T22A,T76S" "0,0" 8818 14803 sw11610;dbsnp24087 RHG26_HUMAN;NP_055886.1 "I557V,N417S,V699I,V713I" "0,1,0,0" 23092 3121 sw11611;dbsnp20344 A4GCT_HUMAN;NP_057245.1 "A218D,D112N,H214Q,H256Y,P95L,Q295K,S27C,V71I,W133R,Y312C" "0,0,0,0,0,0,0,0,0,0" 51146 9909 sw11612;dbsnp10264 POLI_HUMAN;NP_009126.2 "A731T,C560R,D675N,E276K,F289L,F532S,H474R,I261L,I261M,L544P,M419V,N315D,P584R,Q618R,R284H,R498K,R96G,S595F,V117I,V653L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11201 3698 sw11613;dbsnp7443 NPIP_HUMAN;NP_008916.2 "C269R,D326N,E268K,K329E,L270Q,L270V,L313F,R93C,S267P,T272N,T272S" "0,0,0,0,0,0,0,0,0,0,0" 9284 1613 sw11615;dbsnp17749;dbsnp17750 PACN2_HUMAN;NP_009160.2;NP_001171899.1 "A355P,A355T,L212M,M294I,N175S,S258Y,V324F,V79M" "0,0,0,0,0,0,0,0" 11252 6905 sw11616;sws1306;dbsnp30007;dbsnp30008;dbsnp30009 MAGD2_HUMAN;NP_803182.1;NP_957516.1;NP_055414.2 "E187D,K44E,L349V,Q266R,Q88H,T296M,T355A" "0,0,0,0,0,0,0" 10916 5067 sw11617;sws1307;spmut286;dbsnp13228 CC14A_HUMAN;NP_003663.2 "A101G,A11T,A577V,G571R,I364V,P512L,Q535R,R261Q,R345Q,R409C,S589F,V260M,W182C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8556 4872 sw11618 SNX7_HUMAN S278N 0 51375 7581 sw11619;sws1308;dbsnp4307 CELA1_HUMAN;NP_001962.3 "A113T,G6R,I248N,M59V,Q10H,Q243R,R116H,R18H,R44W,Y5H,Y5S" "0,0,0,0,0,0,0,0,0,0,0" 1990 11478 sw1161;sws129;dbsnp7570 AQP8_HUMAN;NP_001160.2 "A212T,A260P,E150K,E32K,M1T,R261Q,R27Q,R33Q" "0,0,0,0,0,0,0,0" 343 11668 sw11620;dbsnp14987 DUS12_HUMAN;NP_009171.1 "A167V,A51E,C309S,E62K,R49W,W275R" "0,0,0,0,0,0" 11266 9910 sw11621;dbsnp13044 PA2GD_HUMAN;NP_036532.1 "A110T,G45S,H73R,H96R,M28R,M28T,Q65H,R121C,R121G,R121L,S40F,S80G" "0,0,0,0,0,0,0,0,0,0,0,0" 26279 14015 sw11622;dbsnp5594 ANGE1_HUMAN;NP_056120.2 "A210T,D510G,F24S,F515C,G141W,I640T,L81V,P372A,Q229H,Q307H,R342C,R587H,R65Q,V383L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23357 4370 sw11623;dbsnp1606 PSD13_HUMAN;NP_002808.3 G204E 0 5719 9024 sw11625;dbsnp18271 SIAT9_HUMAN;NP_003887.3 "A130V,H104R,L83F,R121H,R52Q,V346I" "0,0,0,0,0,0" 8869 8210 sw11626;spmut29;dbsnp21812 ABCG2_HUMAN;NP_004818.2 "A115V,A22T,A22V,A427S,A528T,D171V,D296H,D620N,F117I,F208S,F373L,F431L,F489L,F571I,F9L,G34R,G354R,G530C,I206L,L209W,L227H,L405R,L525R,L595R,M71V,N590Y,Q141K,Q166E,R160Q,S13L,S187Y,S248P,S441N,T153K,T316P,T542A,T579S,V12M,V8F,Y413F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9429 4537 sw11627;sws1309;dbsnp3372 TIM_HUMAN;NP_003911.2 "A1155T,A129S,A325S,A325T,A484T,C517F,C517Y,D294Y,E1058K,E477D,E594K,E640D,F1060L,G1193E,I1017T,I455L,K1114E,L1171V,M1055L,M1055V,M578V,M870V,N1051D,N471S,P1018L,Q213E,Q233K,R1033Q,R1070W,R246Q,R466G,R602W,R831Q,R905W,R922H,R924W,R940Q,R940W,R947Q,V840L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8914 1398 sw11628;dbsnp20804 CP8B1_HUMAN;NP_004382.2 "D195N,F186L,H301Y,K238R,L357F,P487T,R234H,R494H,S342R,S88P,V402I,V437I" "0,0,0,0,0,0,0,0,0,0,0,0" 1582 6642 sw1162;dbsnp1706;dbsnp1707 CNTN5_HUMAN;NP_055176.1;NP_001230199.1 "G1008V,I158M,I530V,L354M,L70R,L790I,M1094V,N81S,Q211H,R580K,S1079T,S23A,Y1065F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 53942 1710 sw11630;dbsnp13962 WDR3_HUMAN;NP_006775.1 "A210V,E550A,L483V,M452T,N104S,P229L,P234A,P789S,R205Q,R276Q,R854Q,S367F,T257M,T400A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10885 2372 sw11631;dbsnp11573;dbsnp11574 IRK14_HUMAN;NP_037480.1;NP_733838.1 "A363P,A431V,D406N,E365A,G339V,P356T,R289C,W88C" "0,0,0,0,0,0,0,0" 3770 7681 sw11632;dbsnp13197 TTF2_HUMAN;NP_003585.3 "A1137V,D1155H,E201D,E256G,E343D,E556D,E952K,G986D,H675R,K1134R,K131R,K167E,K213R,K707Q,L1127F,L495F,M987T,P263S,P968S,R497H,R498H,R548H,R5K,R761C,R784H,R838H,R964C,S273N,S273T,S28N,S897T,S956G,S956N,V914I,Y1036D,Y672C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8458 1521 sw11633;dbsnp16048 NSF1C_HUMAN;NP_057227.2 "A277E,D290N,L222F,R317K,V326M" "0,0,0,0,0" 55968 9174 sw11634;dbsnp10776 L10K_HUMAN;NP_054766.1 "A92S,H63Q,K39R,K59Q" "0,0,0,0" 28974 14666 sw11635;dbsnp26374 FZD1_HUMAN;NP_003496.1 "A64T,N628S,R567C,V343M" "0,0,0,0" 8321 4620 sw11637;spmut1445;dbsnp10814 PA24C_HUMAN;NP_003697.2 "A127V,A200T,A38P,A79T,D411N,E21K,F214L,G302D,I143V,I249L,M1I,N316K,P151L,P161A,P399S,R148G,R402Q,R422Q,R430C,R536Q,S203P,T226S,T360I,T360P,T76M,V142F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8605 5833 sw11638;dbsnp26221 COG5_HUMAN;NP_859422.2 S558P 0 10466 2835 sw11639;dbsnp20183 BSN_HUMAN;NP_003449.2 "A1844D,A2270S,A2475P,A2475T,A3211D,A355T,A3863T,A673V,A741T,D1434G,D2723G,D3297G,E2904A,E723K,F1741L,F3925L,G1213D,G1828S,G2034W,G3074R,G3463S,G3770E,G3886S,G873D,H106R,H1842R,I1703V,M3365V,P1381L,P1482L,P1498L,P3745L,P3762T,P3888L,P885S,Q1974P,R1235C,R1235S,R1269C,R1408H,R1519W,R2221H,R2351Q,R2414Q,R2595C,R2946Q,R3435C,R3638H,R3664Q,R3672W,R976H,S3013L,S3307G,S3533P,S3533T,T1232I,T128M,T3088M,T3829A,V1711M,V1732L,V1732M,V2933I,V3227I,V649A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8927 80 sw11640;dbsnp30324 SRPK3_HUMAN;NP_055185.2 "A294T,E233K,E33K,G114E,G340V,G341S,R101C,V185M,V432I,W237R" "0,0,0,0,0,0,0,0,0,0" 26576 5590 sw11642;dbsnp6622 AP4E1_HUMAN;NP_031373.2 "A565E,A565V,C163R,H205N,I426L,L821V,M919V,N428S,P978S,Q1073K,T369P,T810I,V618I,W446R,Y362C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23431 1596 sw11643;dbsnp9896 B9D1_HUMAN;NP_056496.1 "A4G,R61W,T190S" "0,0,0" 27077 11769 sw11644;sws1312 MACF1_HUMAN T6752I 0 23499 19 sw11645 AZI1_HUMAN I70V 0 22994 1773 sw11646;dbsnp25389 SCAF8_HUMAN;NP_055707.3 "G867E,L1003H,M1173V,N1210S,P1030S,P677H,P901A,Q353L,R101C,R1041Q,R407H,R950W,S155N,S865N,T237M,T629A,V991L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22828 1229 sw11647;sws1313;dbsnp14209 TRI33_HUMAN;NP_056990.3 "I840T,L696S,N821S,P1090T,V67A,V961M" "0,0,0,0,0,0" 51592 1635 sw11649;dbsnp4258 IQEC3_HUMAN;NP_001164209.1 "A392T,A48T,A558G,D465G,G271S,G858S,H139Q,P1032L,P283S,Q514H,R714C,R743C,R743H,R824K,S137L,S603P,T31S,V857M,V865M,Y14C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440073 1474 sw1164;sws130;spmut2058;dbsnp23344 STK10_HUMAN;NP_005981.3 "A286T,A804V,C947Y,G829S,K210N,M165I,M710T,N467S,N603T,P393L,P394A,P480L,P480S,P520L,R11L,R268C,R322W,R635C,R712K,R914Q,S853L,S905T,S942N,T336I,T611M,V26I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6793 2246 sw11651;dbsnp22253 LIMC1_HUMAN;NP_055803.2 "A282V,A508T,A655P,D557G,E593K,G197S,G645E,H951Q,M759T,N620D,P761S,P934S,R195C,R459C,R977M,S403R,S656L,S680P,S846P,T108A,V112I,V673M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22998 1774 sw11652;spmut60;dbsnp18377 AGAP1_HUMAN;NP_001032208.1 "A488P,D148G,E829K,G83S,H157Y,K328Q,K430Q,P520R,P522L,P70L,P827S,P854T,R710W,R798G,R798Q,S320P,S82G,T300I,T697M,V671I,V688I" "0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,1,0,0,0,0" 116987 2557 sw11653;dbsnp20472 PZRN3_HUMAN;NP_055824.1 "A783V,A804V,D453E,E243K,E509V,E762D,G239R,G663S,H152Y,H22L,H394R,H407N,H722Q,I925V,K869E,M995L,P1051L,S848I,Y423C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23024 1839 sw11655;dbsnp17708 TNR6B_HUMAN;NP_001155973.1 "A1007T,A1510T,G423V,G917A,K1051R,S517C,T327I" "0,0,0,0,0,0,0" 23112 537 sw11656;dbsnp21344 PLCL2_HUMAN;NP_001137854.1 "A742V,A940S,G773V,H890R,P809H,P965S,Q211R,V152I,V635M" "0,0,0,0,0,0,0,0,0" 23228 1636 sw11657;spmut1974;dbsnp14904 SMG5_HUMAN;NP_056142.2 "C281W,D524N,I151V,I355V,K41E,N1004D,N553S,R104Q,R237H,R543W,R685H,S495G,V191I,V86I,V983A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23381 2043 sw11658;dbsnp11954 NAC2_HUMAN;NP_055878.1 "N130T,V429L" "0,0" 6543 2492 sw11659;dbsnp11365 ZFR2_HUMAN;NP_055989.1 "A159T,A325T,A442T,A577T,D589N,G58S,G757S,G926R,I718M,P235L,P803H,R464L,R521C,S164L,V183M,V210L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23217 14879 sw1165;sws131;spmut1079;dbsnp19018 KPCD3_HUMAN;NP_005804.1 "A128T,A38V,A744P,D368V,D379N,E385K,I468V,I92M,K289R,L445I,N42D,N882K,P225S,Q546R,R297H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23683 2542 sw11660;dbsnp336 ANR26_HUMAN;NP_001242982.1 "A203T,D265N,D658G,E1002K,E992A,F1513L,I1481T,I425V,Q20R,R1087K,R622Q,R924G,V1218I,V1219L,V1304I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22852 629 sw11661;dbsnp7577 JIP3_HUMAN;NP_055948.2 "R1058C,R204S,R591H,T753A" "0,0,0,0" 23162 1095 sw11662;dbsnp10825 ZC3H4_HUMAN;NP_055983.1 "A1228G,E287K,L1012M,M464V,P510R,P521A,R83Q,S815N" "0,0,0,0,0,0,0,0" 23211 1159 sw11663;dbsnp13017 UBP24_HUMAN;NP_056121.2 "A235T,D2001A,E1753G,G1940S,H1741R,I342V,I516L,K2472R,M2391V,R1421Q,R2310Q,R701W,R987Q,S1304A,T158A,T226I,V1482I,V2468A,Y2134S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23358 209 sw11664;spmut330;dbsnp1397;hgmd0613_1718 CE164_HUMAN;NP_055771.4 "A132G,A1404V,A564V,A598T,E1166Q,E547K,E604K,E981D,G250S,H477R,I1063T,K113R,L1011P,L1444V,L888V,L95W,M183K,P1239L,P127H,P1369L,P1377L,P494T,Q1119R,Q439L,R1111H,R1122H,R1269Q,R480W,R674Q,R786W,S1255I,S1258F,S407F,S94N,T1311S,T988S,Y1090H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22897 888 sw11665;dbsnp12974;dbsnp12975;dbsnp12976 FOXJ3_HUMAN;NP_055762.3;NP_001185779.1;NP_001185780.1 "P271S,Q331R,S352N,T377P,V162A,V368I" "0,0,0,0,0,0" 22887 4884 sw11666;spmut1875;dbsnp19038;dbsnp19039;dbsnp19040 SATB2_HUMAN;NP_001165988.1;NP_056080.1;NP_001165980.1 "D721E,S263P" "0,0" 23314 3252 sw11667;dbsnp11635 UN13A_HUMAN;NP_001073890.2 "A1133S,A359T,D14Y,D188N,E342K,G234S,L1034P,M151T,N89S,P1027L,R636L,S158L,T61M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23025 639 sw11668;dbsnp6605 K1024_HUMAN;NP_056021.1 "C556Y,D29E,E221G,E350D,E605K,E822K,F405L,H586Y,I644L,I832V,N258H,P707Q,P828L,R188C,R37Q,R581W,R710S,R734C,R825W,S691T,T852M,V320F,V474M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23251 2521 sw1166;dbsnp23318 GFPT2_HUMAN;NP_005101.1 "A284T,I471V" "0,0" 9945 4080 sw11670;dbsnp5108 WASF3_HUMAN;NP_006637.2 "A381G,I437V,L220F,P251L,P307L,P310A,R11P,R75H,S223C,S415L" "0,0,0,0,0,0,0,0,0,0" 10810 6621 sw11672;dbsnp25868 THS7A_HUMAN;NP_056019.1 "D771E,F238L,I397T,L299P,N583D,P56R,Q700H,R428G,R841H" "0,0,0,0,0,0,0,0,0" 221981 684 sw11674;sws1317;dbsnp7147 COR2B_HUMAN;NP_006082.3 "C480Y,G423R,L194Q,L238V,N436S,R205H" "0,0,0,0,0,0" 10391 6210 sw11675;sws1319;dbsnp5645 MOK_HUMAN;NP_055041.1 "A264T,D86N,E312K,I105T,I218V,K137N,K230R,M106I,N62D,P170S,P248S,Q210H,Q398R,R38H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5891 8176 sw11676;dbsnp11385 DHDH_HUMAN;NP_055290.1 "A2P,A324V,D146H,E105D,G201R,G282R,M1K,N278D,P252S,P307L,R148W,S66N,V200M,V247A,V93I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27294 10046 sw11678;dbsnp7544 SRRM2_HUMAN;NP_057417.3 "A1037G,A1176G,A164V,A1736V,A1859T,A2364T,A490T,A590V,C1036S,D1141E,G1461V,G1599D,G1816R,K329R,K807T,L2401R,P1005L,P1500A,P1763A,P2197L,P2324S,P2441A,P2441S,P2502L,P2569L,P2596L,P2654S,P2739S,P331S,P334L,P368L,P804T,Q1251R,Q1374K,Q2446H,Q2710R,R1068T,R1182I,R1538H,R1576K,R1595H,R1635Q,R1673K,R1717H,R1752P,R1997H,R2029C,R2033P,R2052C,R2087C,R2700C,R533C,R611W,R680H,R682H,R705S,R740S,R753G,R766W,R772H,R777H,S1090P,S1112F,S1143F,S1150P,S1292A,S1349F,S1397F,S1444F,S1474F,S2111N,S2485F,S2567N,S2644T,S311G,S346F,S395P,S435T,S815G,S883C,S934F,T1756I,T2347A,T2420I,T2513A,T810M,T856R,V2451M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23524 185 sw1167;spmut1754;dbsnp7358 RGS11_HUMAN;NP_899180.1 "A156E,A156G,A236V,A280T,G301R,K415R,M427T,R135W,R228W,R340Q,R372W,R382C,R382H,R430H,V351M,V354M,V367I,Y281F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8786 4323 sw11680;sws1320;dbsnp19949 CNTN6_HUMAN;NP_055276.1 "A280G,A440S,A827V,E187G,E400Q,E515K,E954V,F150S,F314V,G271E,G310S,G678S,I1024L,I372V,I529L,L450V,Q289H,R2K,R303Q,S745L,S995T,T128I" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27255 1990 sw11681;dbsnp23745 MGT4B_HUMAN;NP_055090.1 Q257H 0 11282 5647 sw11682;dbsnp11110 PSG11_HUMAN;NP_002776.3 "A117T,A176T,E11Q,E310K,H12R,I244V,I321T,I72M,I88R,I89N,L18V,M37T,N104S,N170D,N264D,R114Q,R127Q,R73T,S222T,V101A,V83I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5680 7855 sw11685 CD11A_HUMAN "L402S,S92P" "0,0" 728642 3248 sw11687;sws1321;dbsnp23765 CTND2_HUMAN;NP_001323.1 "A482T,E26Q,G275C,G34S,G494S,G810R,L1123S,Q507P,S201N,V428I" "0,0,0,0,0,0,0,0,0,0" 1501 1344 sw11688;spmut198;dbsnp9234 BAIP2_HUMAN;NP_059345.1 "A252T,L464M,Q519R,R539W" "0,0,0,0" 10458 5810 sw11689;dbsnp1930 GAB2_HUMAN;NP_536739.1 "A226T,A383T,D576E,G135V,G599A,M314T,M587V,N119S,N76D,P317L,P320L,P344L,P356L,P356R,R156H,R414H,R551K,S185P,T297M,V292A,V475I,V612I,Y249C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9846 4311 sw1168;dbsnp7430 BAIP3_HUMAN;NP_003924.2 "A694T,D577N,D582A,G251S,G333E,G399A,G590E,G98E,K198N,K210R,N624S,P119L,R235H,R245H,R330H,R58H,R685C,R839H,R937C,R990C,S66N,S800G,S879I,T194M,T629I,T831M,T858M,V604I,V85M,V891M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8938 1462 sw11690;sws1323;spmut375;dbsnp13409 CLCA2_HUMAN;NP_006527.1 "A334D,A334G,A335S,A335T,D355Y,E454V,G534D,I345T,I539T,I697V,M525T,Q306E,R867G,S471T,S5N,T152I,V80I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9635 2373 sw11691;dbsnp3335;hgmd0613_1665 SCN8A_HUMAN;NP_055006.1 "A1575V,L742M,N1768D,Q687R,R1026C,S1275F,V397M" "0,0,1,0,0,0,0" 6334 436 sw11692;spmut603;dbsnp26095;dbsnp26096 ENW1_HUMAN;NP_055405.3;NP_001124397.1 "D122H,E481K,K349R,L167P,M41T,R138Q,R159C,R26C,R360W,R43H,R509Q,R531C,S307N,S477F,T247N,V129A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 30816 6018 sw11694;dbsnp586;hgmd0613_1363 PPR3C_HUMAN;NP_005389.1 "A109S,A271V,D115E,D198E,F190S,N133T,N249S" "0,0,0,0,0,0,1" 5507 10477 sw11695;spmut851;dbsnp8615 HDAC5_HUMAN;NP_005465.2 "A399T,A82V,D593E,G415S,G565A,P635L,P885H,Q77K,R137Q,R476C,R476H,R573Q,V956M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10014 1647 sw11697;dbsnp13531 TENN_HUMAN;NP_071376.1 "A1156V,A704D,A70T,A733D,D1135E,D258Y,D289N,E100K,E846K,G766D,G932E,L537M,M122I,M1I,M859V,M916L,N336K,P754L,P930L,Q970R,R1048C,R1048H,R1157Q,R440S,R541G,R541W,R79G,R8C,R918C,R918H,R91H,S583C,T1104M,T1227I,T499M,T637M,T941M,T94M,T994M,V1073F,V1073I,V1130M,V334I,V369M,V474A,V688L,W807R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63923 1168 sw11698;dbsnp2511 NALDL_HUMAN;NP_005459.2 "A211V,D555Y,E103K,E675K,F26Y,G414R,I421T,I576T,K398T,K535R,L585P,L611V,P649R,Q2H,Q457P,R455T,R58W,R676C,V456A,Y498S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10004 3699 sw11699;dbsnp3840 SH2B3_HUMAN;NP_005466.1 "E400K,F182L,I257T,L476F,P242S,P344L,R265Q,R508Q,R566W,S334G,T306K,W262R" "0,0,0,0,0,0,0,0,0,0,0,0" 10019 5490 sw1169;dbsnp22609 SLIT2_HUMAN;NP_004778.1 "A1418V,A276T,D1445H,E1104K,E1154G,G1353V,I312V,L1109F,L220F,M425V,R388Q,R593H,R812H,S1277F,S1350N,S636P,S92N,T1525M,V597M,Y1106H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9353 789 sw116;dbsnp559 LRIT2_HUMAN;NP_001017924.1 "A506G,C28Y,E523K,G488S,K179N,L220F,L241I,L241V,P525T,Q21H,R265W,R369Q,R369W,R503H,S79N,T510P,V496A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340745 5838 sw11700;dbsnp19990 LAMP3_HUMAN;NP_055213.2 "A270T,A325V,A349V,A89T,E32G,I318V,K323T,N280K,P135L,P188S,P315L,T106I,T268M,T91A,V152I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27074 8261 sw11703;dbsnp27645 MTMR7_HUMAN;NP_004677.3 "F413L,G626R,H199Y,M522T,N230S,P44A,Q559H,S56C,S583R,Y385N" "0,0,0,0,0,0,0,0,0,0" 9108 4046 sw11704;dbsnp5101 MTMR6_HUMAN;NP_004676.3 "A131T,A414D,A599T,D195N,D90N,E197K,I319V,I81T,M365V,N288S,P229A,P590L,Q525H,R151Q,V236I,V69L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9107 4046 sw11705;dbsnp5514 JAG2_HUMAN;NP_002217.3 "A593V,A820V,A951T,D538N,D701N,E501K,E952K,G1076S,G1142R,G338S,P595S,P878L,R1117W,R688H,R861Q,T1075M,T297I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3714 1314 sw11706;dbsnp27059;dbsnp27060 DMTF1_HUMAN;NP_001135799.1;NP_066968.3 "A445S,A91V,A96P,D82E,I616V,M648T,P476S,S671R,T418M,V479I" "0,0,0,0,0,0,0,0,0,0" 9988 3519 sw11708;dbsnp21155 S22AD_HUMAN;NP_004247.2 "A77V,A93T,G236R,G236W,G356E,G493S,L443F,L448F,M403L,M453L,R102H,R16H,R276H,R281H,R87W,T106M,V355A,V43I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9390 5828 sw11709;sws1325;dbsnp27528 ENTP4_HUMAN;NP_004892.1 "D151A,E408V,F392L,K354E,K464N,M444V,N83S,P20S,R387Q,T389A,V21L,V247I,Y417C,Y417H,Y435F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9583 4960 sw11710;sws1326;dbsnp13081 T3JAM_HUMAN;NP_079504.2 "A170T,D178N,D240E,E285K,E285Q,E75G,I378T,L343F,Q373E,Q469E,Q52H,R30H,R36H,R92Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80342 5829 sw11711;dbsnp24965 FUT9_HUMAN;NP_006572.2 "T237A,T56N,W358G" "0,0,0" 10690 9458 sw11712 CDYL1_HUMAN "A60G,S9P,T2A,V48A" "0,0,0,0" 9425 5160 sw11713;spmut1490 PDE10_HUMAN L303P 0 10846 3298 sw11714;dbsnp24694 ABEC2_HUMAN;NP_006780.1 "A8T,A95V,D133N,G64R,I136T,I136V,N50K,S199P,T120N,V59M" "0,0,0,0,0,0,0,0,0,0" 10930 12458 sw11715;dbsnp27977 OSGI2_HUMAN;NP_004328.1 "C319S,E6V,K405N,S8P,Y101H" "0,0,0,0,0" 734 5865 sw11716;sws1327;dbsnp19946 DLEC1_HUMAN;NP_031361.2 "A174T,D268A,D268E,E1721K,E264K,E676K,G1442R,H691Y,K1022N,L1227P,L79R,M651V,N1150D,P377A,P84S,Q295H,R1278C,R1738W,R331C,R872H,S1717N,S192F,V1304G,V853I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9940 572 sw11718;dbsnp11461 CLC11_HUMAN;NP_002966.1 "E86A,P104R" "0,0" 6320 10328 sw11719;dbsnp24677;dbsnp24678 TCF19_HUMAN;NP_001070979.1;NP_009040.2 "A279V,M211V,P109S,P241L,R269C,R93K,Y118H" "0,0,0,0,0,0,0" 6941 9796 sw1171;dbsnp23103 AT10B_HUMAN;NP_079429.2 "C217R,D832N,G393W,G671R,I1148V,I1222T,I540T,L1421F,M1078R,N105S,N865K,R1402G,R520Q,S1183R,T161I,T161N,V748L,Y253H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23120 885 sw11720;sws1328;spmut80;hgmd0613_1372 AKT3_HUMAN E17K 1 10000 6976 sw11721;sws1329;dbsnp27375 LZTS1_HUMAN;NP_066300.1 "E355Q,E360Q,E495K,G444A,G583E,G92A,H30N,L113P,L475V,L567V,M59T,N111S,Q418E,R176Q,R282C,R298Q,R343Q,R346G,R75W,S50F,T403M,V531M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11178 5186 sw11722;spmut903;dbsnp22216;dbsnp22218 HPSE_HUMAN;NP_006656.2;NP_001092010.1 "A233G,D476E,F236C,F246Y,G370D,K307R,N260S,P226S" "0,0,0,0,0,0,1,0" 10855 5950 sw11723;sws1330;dbsnp5071;dbsnp5072;dbsnp5073 RNF6_HUMAN;NP_005968.1;NP_898865.1;NP_898864.1 "A542D,G263D,I164T,N308S,N48S,R342S,R407H,R561G,R572Q,S623N,T190A,T190S,T321A,V203E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6049 4219 sw11725;spmut1045;dbsnp12136 KCNK6_HUMAN;NP_004814.1 "A168V,D219N,G223R,R166P,T150I,V240I,V259M" "0,0,0,0,0,0,0" 9424 10586 sw11726;dbsnp26544 CCL26_HUMAN;NP_006063.1 "L18R,R60W" "0,0" 10344 14727 sw11728;dbsnp17851 EIF3L_HUMAN;NP_057175.1 "A117D,A117V,I212T,N239S,T353S" "0,0,0,0,0" 51386 5625 sw11729;dbsnp16106 ANGP4_HUMAN;NP_057069.1 "E395K,H439R,I216M,L172R,L264V,L48S,M152V,P315L,P57L,Q95R,R147H,R334H,S414R,T67I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51378 6605 sw11730;dbsnp19947 S22AE_HUMAN;NP_004794.2 "A503S,A512V,E488D,E569K,F65S,G107R,G225S,I144T,I188F,K112E,L382F,L466P,L55F,M189V,N351D,P108H,P318L,P560R,R210G,R39C,R39H,R424Q,S245L,S292G,S522L,S557C,T397M,T496A,T502I,V284A,V284M,V391I,V90M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9389 5212 sw11731;dbsnp21027 SIA10_HUMAN;NP_006091.1 "A311T,E199K,I113M,R38Q,T26M" "0,0,0,0,0" 10402 10117 sw11732;dbsnp5354 TN13B_HUMAN;NP_006564.1 "A105T,S42F" "0,0" 10673 11191 sw11734;dbsnp8007 HS3S2_HUMAN;NP_006034.1 "C39G,L44P,P339A,V243M" "0,0,0,0" 9956 7473 sw11735;dbsnp30182 VSIG4_HUMAN;NP_009199.1 "G215V,G272E,G279E,R108W,S397I,T383I,V126M,V92F,Y303C" "0,0,0,0,0,0,0,0,0" 11326 8607 sw11737;sws1334;dbsnp16659 ERGI3_HUMAN;NP_057050.1 "I113L,I153T" "0,0" 51614 8837 sw11739;dbsnp12547 ASTER_HUMAN;NP_057229.1 "N5S,P104A" "0,0" 51398 14575 sw1173;spmut480;dbsnp27570;dbsnp27571;hgmd0613_1737 DDHD2_HUMAN;NP_001157704.1;NP_056029.2 "C683S,D120E,D376G,G76C,G76D,R494Q,S377L,S612A,T186M" "0,0,0,0,0,0,0,0,0" 23259 3957 sw11740;dbsnp12067 SYFA_HUMAN;NP_004452.1 "A90V,D363E,I471T,L316P,Q137K,Q341R,R114W,R205W,V175L" "0,0,0,0,0,0,0,0,0" 2193 6514 sw11741;dbsnp17956 SC5A6_HUMAN;NP_066918.2 "A370D,G473R,L547V,L573F,L573V,M614T,R521Q,R553Q,S481F,S492N,V120I" "0,0,0,0,0,0,0,0,0,0,0" 8884 4743 sw11742;dbsnp2573 TPPC4_HUMAN;NP_057230.1 "D78A,E128G,V156G" "0,0,0" 51399 12552 sw11743;dbsnp319 FBW1A_HUMAN;NP_378663.1 "A543S,L86F,P592H,R594H,S117N,T414A,V407I" "0,0,0,0,0,0,0" 8945 5082 sw11744 ZN443_HUMAN "C485F,K111I,K111N,P591Q,Q397H" "0,0,0,0,0" 10224 3684 sw11745;dbsnp10813 B3GN3_HUMAN;NP_055071.2 "G230S,M220V,P100A,R231S,R285H,R328H,T319M,T54N,V121A,V322A" "0,0,0,0,0,0,0,0,0,0" 10331 8918 sw11746;dbsnp10001;hgmd0613_1175 PIGL_HUMAN;NP_004269.1 "A222S,D113Y,D147N,H203D,L142M,L167P,R235H" "0,0,0,0,0,1,0" 9487 11868 sw11747;dbsnp16240 T53G5_HUMAN;NP_055292.1 "E107K,H219Q,H275N,K6N,P221L,P29L,R164K,R191H,R36Q,R57H,T143A,V172A,V257A,Y289H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27296 11099 sw11748;dbsnp25140 UST_HUMAN;NP_005706.1 "H91Y,M21L,P71L,P95A,R360H,T54I" "0,0,0,0,0,0" 10090 8467 sw11749;dbsnp16939;dbsnp16940;dbsnp16941;dbsnp16942 B3GT5_HUMAN;NP_006048.1;NP_149360.1;NP_149361.1;NP_149362.1 "A283T,M85T,P4L,R144H,S27R,V60I,Y165C" "0,0,0,0,0,0,0" 10317 10655 sw1174;dbsnp9260 MYO1D_HUMAN;NP_056009.1 "D991N,E469K,E633K,G380V,H862L,N229I,N242S,P765S,P798S,R665W,R771H,T266R,T712I,Y230C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4642 2033 sw11750;spmut647;dbsnp20188 EXOG_HUMAN;NP_005098.2 "F20S,G277V,R15G,R346C,V61D,W175C" "0,0,0,0,0,0" 9941 9235 sw11751;dbsnp25213 S17A4_HUMAN;NP_005486.1 "A372T,D13E,D13Y,F354I,I345V,L347R,P71S,R80W,S321L,S452I,S472L,V485M,Y233C,Y233S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10050 6704 sw11752;dbsnp22036 TLR6_HUMAN;NP_006059.2 "A210G,A210T,A474T,A474V,A780T,D30N,D442A,G592V,H345Y,H458R,I120T,I283V,I607S,I607T,L128V,L194P,M783V,N690T,N730D,N776S,Q708H,R247K,S249P,T255I,T399M,T756M,V327M,V427A,V465I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10333 3244 sw11753;dbsnp10841;dbsnp10842 ATF5_HUMAN;NP_036200.2;NP_001180575.1 "E249K,P121L,P32L,P85A,Q262L,Q262R,R167C" "0,0,0,0,0,0,0" 22809 11237 sw11755;dbsnp13268;dbsnp13270;dbsnp13271 ADIP_HUMAN;NP_054740.3;NP_001159765.1;NP_001159889.1 "A191T,C578R,D313N" "0,0,0" 117178 4982 sw11756;dbsnp21954 MA2B2_HUMAN;NP_056089.1 "A54P,A54T,A841V,D179N,D633E,G624R,G629V,I210F,I589T,I602V,L961F,M302K,M443T,M446L,M446V,M671K,M671R,M671T,N541S,P688L,P688R,P858Q,Q243P,Q243R,Q418K,Q788R,R365C,R365G,R365S,R388C,R447G,R501C,R664W,R681H,R699Q,R777W,R886C,R886H,R903Q,R912C,R975S,R97H,R97L,R97P,T810M,T892M,T971M,V246M,V320L,V320M,V644M,V847M,Y676H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23324 2075 sw11757;dbsnp23369 K0947_HUMAN;NP_056140.1 "A1739T,C391S,G1057R,G1058D,K1078N,K596E,K874E,P1618L,Q1597P,Q871R,R1349C,R866S,S852L,T1054A,V901I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23379 312 sw11758;dbsnp2643 MRF_HUMAN;NP_001120864.1 "A723T,K578N,N465S,P262S,P262T,P289A,R1114H,R920H,S803F,S842F,T785I" "0,0,0,0,0,0,0,0,0,0,0" 745 1551 sw1175;dbsnp4060 DEND_HUMAN;NP_055901.2 "A341T,E428V,E661G,G579R,P358R,R518H,R583G,R64H,R69C,T70M" "0,0,0,0,0,0,0,0,0,0" 23109 3958 sw11760;dbsnp24776;dbsnp24778 ANKR6_HUMAN;NP_001229740.1;NP_001229738.1 "A550T,I128V,K564R,M458L,P636L,Q122E,T233M,T545A" "0,0,0,0,0,0,0,0" 22881 3814 sw11762;spmut1867;dbsnp448 SAC2_HUMAN;NP_055752.1 "A1020P,A845P,E1050D,F1025L,G951R,I241V,I387T,I453V,I631T,M234I,M291T,M417T,N997D,P1008L,P144S,Q933H,S852F,V1016F,V316I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22876 1623 sw11763;dbsnp14371 PKHA6_HUMAN;NP_055750.2 "A1029V,A128T,A727T,D94E,I599S,M1008L,N526K,P10L,R173W,R34W,R837K,R901H,R929W,S441C,S488R,V184I,V43I,V544A,V770I,V83I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22874 1908 sw11764;dbsnp4961 FND3A_HUMAN;NP_001073141.1 "A478T,D1100N,D864N,P105A,P105S,S107G,S723G,T1017A,T730I,T730P" "0,0,0,0,0,0,0,0,0,0" 22862 1406 sw11765;dbsnp28689 ZN510_HUMAN;NP_055745.1 "A582G,C665R,C89R,E408K,E576A,G202S,G204S,G634E,H136Y,H398D,I53V,I593T,I614V,K383N,M401I,N236K,N273K,N659S,Q43R,Q443R,R583Q,S2L,S80N,T584K,T586N,V589M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22869 4248 sw11766;sws1338;dbsnp12081 MAST1_HUMAN;NP_055790.1 "A1048S,A1148T,E1506A,H1240Y,K520Q,P1292S,V108I" "0,0,0,0,0,0,0" 22983 563 sw11767;spmut1364 NISCH_HUMAN "A1056V,V299I" "0,0" 11188 816 sw11768;dbsnp16073 NINL_HUMAN;NP_079452.3 "A1050V,A322T,A456V,A791V,A950T,C190Y,D1077N,D591Y,E1122Q,E1261K,E218Q,E290A,E459K,E515K,E567G,E973K,G79V,I1049R,L1222V,L1248F,L492P,N1081K,N1142H,P128L,Q1246R,R1070Q,R112Q,R1276C,R1281Q,R1366H,R142C,R276W,R400H,R546Q,R583Q,R969G,S1358N,S191R,S746L,T22M,T296A,T618M,V1069D,V210M,W958R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22981 1014 sw1176;dbsnp1583 MICA2_HUMAN;NP_055447.1 "A1039V,A1040T,A12S,A12V,A31T,A388V,C25G,D40E,D687E,E1077K,F145L,F581I,G1124D,G755S,G958R,I220V,L1106P,L41V,L656F,L656V,M368I,P1110S,P770L,R1014Q,R1089Q,R340Q,R384Q,R557C,R559Q,R559W,R586Q,R633C,R695C,R695H,T432I,T87A,V113I,V611F,Y636C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9645 425 sw11770;dbsnp986 WDR37_HUMAN;NP_054742.2 "A461S,A96V,I225V,L77I,N415S,N415T,N71S,T180M,T345M" "0,0,0,0,0,0,0,0,0" 22884 6764 sw11771;spmut2109 TBC30_HUMAN N759D 0 23329 2474 sw11772;dbsnp10494 E41L3_HUMAN;NP_036439.2 "A414V,A555T,D1087E,E859Q,G868R,I1041V,N680S,P1065H,P36Q,P626L,P781S,P839S,P845L,Q786H,R156Q,R498Q,R861W,R924C,S109I,S832A,T752M,T898M,T950K,V841M,Y575C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23136 1763 sw11774;sws1339;spmut1942;dbsnp2366 SIK3_HUMAN;NP_079440.2 "A264T,A704T,A705T,A973V,A992T,D1040E,D1227G,E289K,G1126A,G464R,L1184P,L960P,M1200L,M295I,M422T,P1078R,P476L,P865S,R109W,R310K,R403C,R789H,R984C,T558M,T852A,Y901C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23387 1246 sw11775;dbsnp20588 MYH15_HUMAN;NP_055796.1 "A159S,C489Y,D1467N,H504Y,M1798V,Q1085P,R1689C,R1748Q,R454Q,S1654Y,S572L,T1119M,T1125A,T949I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22989 434 sw11776;dbsnp4218 R3HD2_HUMAN;NP_055740.3 "M562I,R948H,T35A" "0,0,0" 22864 2204 sw11777;spmut2295;dbsnp29179;dbsnp29180;dbsnp29181 UBP20_HUMAN;NP_001008563.2;NP_006667.3;NP_001103773.2 "A724T,K148R,M690V,S103Y,S622F,V444I" "0,0,0,0,0,0" 10868 2379 sw11778;dbsnp20049 STB5L_HUMAN;NP_055795.1 "G503R,M1014V,M1064I,P1009L,P716H,T568S,V379M,V855I" "0,0,0,0,0,0,0,0" 9515 1465 sw11779;spmut1830;dbsnp5076 RRP44_HUMAN;NP_055768.3 "A401V,A768V,D438N,E22A,I845V,K465R,N269S,P635S,R370K,R382Q,R611H,R829H,T326R,V133I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22894 2292 sw11780;sws1340 TPPC8_HUMAN "I1189V,L137S,N74S,Q708E,R954H,S1298P,S517G,T1146A" "0,0,0,0,0,0,0,0" 22878 928 sw11781 LRCH1_HUMAN S234P 0 23143 3500 sw11782;spmut664;dbsnp6726;hgmd0613_1719 FAN1_HUMAN;NP_055782.3 "A261G,A261V,A734V,A805T,D219H,E240K,E437G,E691Q,G233E,G371S,G580S,L109S,M2T,M393V,M50R,N621S,N67D,P654L,P788S,P894S,P959S,R145H,R145L,R377W,R507H,R752H,S27F,V134M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22909 2039 sw11783;dbsnp20382 CC032_HUMAN;NP_057015.1 "A122T,A197V,A60T,E139G,G171R,G6A,I81M,P14L,P29L,P40L,R161C,R246W,R299P,R93H,T53M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51066 9103 sw11784;spmut874;dbsnp11608 HIF3A_HUMAN;NP_690008.2 "A202V,A368D,A368T,A511T,F463L,G664S,L476V,P377S,Q343R,R238Q,R407C,R525Q,T171I,T474I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64344 4388 sw11785;dbsnp11935 ZN835_HUMAN;NP_001005850.2 "E251D,E29K,E88A,G330D,P86H,Q157H,R502L,S120T" "0,0,0,0,0,0,0,0" 90485 6033 sw11786;dbsnp23352;dbsnp23353 S27A6_HUMAN;NP_054750.1;NP_001017372.1 "A109T,A126V,D29G,F24L,H210N,K301R,L19V,L220F,N146S,N432H,P153L,R333H,R341W,V119I,Y80S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28965 4908 sw11787;dbsnp12103;hgmd0613_1618 S27A5_HUMAN;NP_036386.1 "A167V,A214V,A669G,G410E,M50T,M539T,N654S,P88L,R110W,R209Q,R248H,R387Q,R53W,V312I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10998 4171 sw11788;dbsnp12276 ZN256_HUMAN;NP_005764.2 "C37S,D60N,E495K,F304I,H224P,K526T,L311R,L415S,P64S,Q76P,S337G,T374A,T473A,T51A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10172 2862 sw11789;dbsnp22034 AT8A1_HUMAN;NP_006086.1 "I426V,K928R,N545S,P1033L,R568Q,R735Q,T673M,T729A,V429I,V898M,Y626C" "0,0,0,0,0,0,0,0,0,0,0" 10396 1458 sw1178;dbsnp22134 SC24D_HUMAN;NP_055637.2 "A218G,A234T,D274E,F496I,F496L,F928L,G70V,L526F,L855V,L856I,M42T,M846V,N712T,P193L,P200L,P344R,P47S,P61T,P843L,Q207R,R313H,R806W,T894M,V749M,Y29C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9871 1732 sw11790;dbsnp27902 RT28_HUMAN;NP_054737.1 "I107V,L89F,R103W,R48P,R58W,R8H,R8L,V77M" "0,0,0,0,0,0,0,0" 28957 13230 sw11791;spmut1657;dbsnp14861 PTN22_HUMAN;NP_057051.3 "A606S,D709E,D79N,E277K,H370N,H687L,K750N,N26S,P326L,P622R,Q456E,R141C,R263Q,R620W,R680Q,R748G,S543G,S641P,S751N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26191 3163 sw11792;dbsnp9275 DDX52_HUMAN;NP_008941.2 "A231T,D452E,D5G,E253K,G398R,I463T,K365R,M403L,M403T,M403V,R203Q,R264S,T162A,T18A,V530I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11056 5150 sw11793;dbsnp9322 RT07_HUMAN;NP_057055.2 "A16V,A230T,A2V,M184V,R198Q,T143S" "0,0,0,0,0,0" 51081 12081 sw11794;dbsnp5310;hgmd0613_1780 RPAC2_HUMAN;NP_057056.1 "E47K,G52E,G99S,L51R,L82S,R56C,T50I,V110A" "1,1,1,1,1,1,1,0" 51082 14385 sw11795 AXIN2_HUMAN S50P 0 8313 2938 sw11796;dbsnp18688 GPR55_HUMAN;NP_005674.2 "G195V,T215N,V103I" "0,0,0" 9290 10418 sw11797;dbsnp8609 YBOX2_HUMAN;NP_057066.2 "G9V,P185L,S63P" "0,0,0" 51087 9327 sw11798;sws1341;dbsnp19726 M3K2_HUMAN;NP_006600.3 "D140G,I110V,P346S,Q420H" "0,0,0,0" 10746 4514 sw11799;dbsnp4020 MAN1_HUMAN;NP_055134.2 "A338V,D260Y,D755N,E686K,G303C,L334V,L367F,P444A,R288G,S402F" "0,0,0,0,0,0,0,0,0,0" 23592 2555 sw117;dbsnp11934 PALM3_HUMAN;NP_001138500.1 "A227P,A265P,A440T,A671V,D604N,E206K,E74D,G368W,K383Q,L464F,R116H,R82Q,S189I,S260T,S87G,T666M,V281M,V31L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342979 4337 sw11800;dbsnp6681 CO041_HUMAN;NP_001123482.1 L73V 0 84529 11253 sw11802;dbsnp5067;hgmd0613_1961 COG6_HUMAN;NP_065802.1 "A10T,C32S,D107V,G549C,G549V,H300Y,K382R,L655I,M299V,M447T,N203H,N22S,N394D,R587C,S120G,V631M,Y628C" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 57511 4511 sw11803;dbsnp14203 TR150_HUMAN;NP_005110.2 "A201V,A581T,E449K,G292R,H304R,K202R,L383F,M388I,R25C,R608H,R899W,T286A" "0,0,0,0,0,0,0,0,0,0,0,0" 9967 2312 sw11804;dbsnp14798;dbsnp14799;dbsnp14800 TDRKH_HUMAN;NP_001077434.1;NP_001077432.1;NP_006853.2 "A404S,A404V,D396V,G257A,I17M,I323V,L352F,R38S" "0,0,0,0,0,0,0,0" 11022 5670 sw11805;sws1342;spmut430;dbsnp19267 CSEN_HUMAN;NP_038462.1 "A119V,G142R,R39H,S11L,V153F" "0,0,0,0,0" 30818 11194 sw11806;dbsnp10790 MED16_HUMAN;NP_005472.2 "A425V,A678V,E874K,H449Y,L770F,P877L,R350H,R5W,R60C,R876C,R876P" "0,0,0,0,0,0,0,0,0,0,0" 10025 2727 sw11807;dbsnp19212 NOP58_HUMAN;NP_057018.1 "A389P,D400A,E228A,N387T,P506R,R490G,T508P" "0,0,0,0,0,0,0" 51602 6153 sw11808;spmut122;dbsnp7763 AR2BP_HUMAN;NP_036238.1 "E87K,R162Q,T116R" "0,0,0" 23568 13664 sw11809;dbsnp7319 RPC10_HUMAN;NP_057394.2 "H74Y,R76C,S24A" "0,0,0" 51728 14554 sw1180;dbsnp25314 UFL1_HUMAN;NP_056138.1 "E636D,F638L,G162S,G532V,K507R,L665V,R191C,R518H,R669Q,V137F,V410I,V85G" "0,0,0,0,0,0,0,0,0,0,0,0" 23376 3257 sw11810;dbsnp11320 ZBT32_HUMAN;NP_055198.1 "A326T,C356Y,H278D,R174S,R195C,R227C,R56L,S225R,S248L,S82N,T487P" "0,0,0,0,0,0,0,0,0,0,0" 27033 6890 sw11811;dbsnp9698;dbsnp9699 TMM98_HUMAN;NP_001028676.1;NP_056359.2 "K144N,R134Q,T180M,W83R" "0,0,0,0" 26022 12420 sw11812;dbsnp1434 PRG3_HUMAN;NP_006084.2 "A51S,C3F,C3R,C3Y,H140Y,I109T,N195K,R174Q,Y146H" "0,0,0,0,0,0,0,0,0" 10394 12439 sw11813;dbsnp4140;hgmd0613_606 SYYM_HUMAN;NP_001035526.1 "A35D,F52L,G191V,G34D,G68S,K179Q" "0,1,0,0,0,0" 51067 7064 sw11814;dbsnp5410;hgmd0613_2437 COQ6_HUMAN;NP_872282.1 "A353D,A49S,D132G,D300Y,D339V,E287K,G255R,G93D,H150R,R116W,R329H,R337G,T395M,V406M" "1,0,0,0,0,0,1,0,0,0,0,0,0,0" 51004 7243 sw11815 CT004_HUMAN P124T 0 25980 8917 sw11816;dbsnp12668 NOSIP_HUMAN;NP_057037.1 "E252D,M187T,T168M" "0,0,0" 51070 10840 sw11817;dbsnp24891 VWA7_HUMAN;NP_079534.2 "D211N,G387A,G387R,G388V,G704V,L409P,P187T,P373S,R137H,R139C,R139H,R296L,R296Q,R338C,R450K,R488Q,R680Q,R711C,R824W,R835W,R99W,S120F,S216N,S397T,T861A,V56I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80737 2655 sw11818;spmut1939;dbsnp10827 SIGL9_HUMAN;NP_055256.1 "A315E,A316D,A382V,G303R,H462Q,K100E,K131N,K131Q,N147K,N67S,P55L,P55S,R120C,R134W,R14M,R269H,R423H,R447Q,R447W,R88W,S125N,S186P,S343P,V349A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27180 5196 sw11819 KLK5_HUMAN "G55R,N153D" "0,0" 25818 11027 sw1181;dbsnp22491 SRBS2_HUMAN;NP_066547.1 "A1048V,D601E,D793N,F1088L,F8L,G1042R,G1042W,G28D,G850E,H191N,L409I,M530I,N754D,N821S,P1008S,P171Q,P171R,P564R,P752L,R1020G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8470 1711 sw11822;spmut1104;dbsnp26376 LC7L2_HUMAN;NP_057103.2 "D361E,E287D,K368Q" "0,0,0" 51631 7448 sw11823;spmut2266;dbsnp24279 UB2J1_HUMAN;NP_057105.2 "G55V,L229R,L229V,P134T,P277L" "0,0,0,0,0" 51465 10443 sw11824;dbsnp29977 RBMX2_HUMAN;NP_057108.2 "R287H,T229M" "0,0" 51634 10349 sw11825;dbsnp6048 DHRS7_HUMAN;NP_057113.1 "A120V,E160D,G323D,K282N,L5P,N138S,R218Q" "0,0,0,0,0,0,0" 51635 9931 sw11827;dbsnp28788 RT02_HUMAN;NP_057118.1 "A179V,D112G,G283E,H294R,M158V,R251K,T168I,T30N" "0,0,0,0,0,0,0,0" 51116 10960 sw11828 COQ4_HUMAN "G50A,R20Q" "0,0" 51117 11586 sw11829;dbsnp17362 RRP7A_HUMAN;NP_056518.2 "A243T,E187Q,E193K,K93T,L75M,N65S,Q274P,R208H,R224W,R233H,R235Q,R272Q,R275H,R48L,R48P,R48Q,T175M,V113A,V47I,V85I,V88I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27341 11276 sw1182;dbsnp20016 TMCC1_HUMAN;NP_001017395.2 "F648L,N40S,R377P,R647Q,S165G" "0,0,0,0,0" 23023 3990 sw11831;dbsnp13282 TMED5_HUMAN;NP_057124.3 "K141E,M200T,T175I" "0,0,0" 50999 12345 sw11832;dbsnp5902 EMC9_HUMAN;NP_057133.2 "A97V,C40G,D68Y,G200D,G204E,R103Q,R126C,R183W,W70R" "0,0,0,0,0,0,0,0,0" 51016 12788 sw11833;dbsnp13969 RRP15_HUMAN;NP_057136.2 "A32V,A97V,K117N,K149N,K156E,K230R,R136C,T110S,V188A" "0,0,0,0,0,0,0,0,0" 51018 11238 sw11834;spmut1800;dbsnp15174 RNF11_HUMAN;NP_055187.1 "D11E,D128N" "0,0" 26994 13835 sw11835;dbsnp24665 PPIL1_HUMAN;NP_057143.1 "C36S,Q81H" "0,0" 51645 4632 sw11836;spmut2319;dbsnp14792 UFC1_HUMAN;NP_057490.2 "E83K,Y90C" "0,0" 51506 13593 sw11837;dbsnp371 MSRB2_HUMAN;NP_036360.3 "E46G,F177S" "0,0" 22921 13328 sw11838;dbsnp610 RT16_HUMAN;NP_057149.1 "H38N,T130R,Y12H" "0,0,0" 51021 14134 sw11839;spmut2159;dbsnp7297 TIM16_HUMAN;NP_057153.8 "A41T,Q114K,R44Q" "0,0,0" 51025 1909 sw1183;dbsnp25953 PHF14_HUMAN;NP_055475.2 "E134D,K115R,Q314P,S225C" "0,0,0,0" 9678 2669 sw11840;dbsnp13220 BOLA1_HUMAN;NP_057158.1 "E42D,G128R,G98A,H67Y,S81R,V60D,V70L" "0,0,0,0,0,0,0" 51027 14135 sw11841;spmut1835;dbsnp17856 RTCB_HUMAN;NP_055121.1 "I287V,L343F,V153A" "0,0,0" 51493 6563 sw11843;dbsnp17408 3BP1_HUMAN;NP_061830.3 "A465S,A465T,G257S,H261R,P511L,P513L,P521T,S339C,S656F,S93T,T190M,V504M" "0,0,0,0,0,0,0,0,0,0,0,0" 23616 4068 sw11844;spmut2046;dbsnp5048 STA13_HUMAN;NP_821074.1 "A371V,A448T,A448V,A469G,A601E,D568N,D795H,D946N,G283V,G696C,H514D,H637L,I532V,K250R,L163F,L367I,L482F,L950Q,N716K,N798S,P1008S,P212L,P233L,P596L,P598L,R1010I,R262C,R262H,R351H,R383P,R455Q,S389A,S420I,T175M,T180M,T525I,T609M,V1048L,V156M,V369L,V555I,V703M,V797I,V889M,V986G,Y14C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90627 795 sw11845;dbsnp16111 ZN337_HUMAN;NP_056470.1 "G664S,I442N,N161D,N359I,P136L,P431L,P712L,Q663R,R467G,R692Q,R720Q,S567L,V17I,V433L,V657M,Y273C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26152 3604 sw11846;dbsnp25394 OR2W1_HUMAN;NP_112165.1 "A266T,D296N,D89G,G29A,M81V,P287L,V158A" "0,0,0,0,0,0,0" 26692 9497 sw11847;dbsnp17492 RHBD3_HUMAN;NP_036397.1 "F183L,G230V,H227R,R135C,T86M,V31G" "0,0,0,0,0,0" 25807 8875 sw11848;dbsnp2324 NALD2_HUMAN;NP_005458.1 "C13Y,E181G,F703S,I446V,M159V,P358T,R390W,T187I,T379A,V101I,V204A,W411G,Y602H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10003 3608 sw11849;dbsnp6680 TMED3_HUMAN;NP_031390.1 "D86N,M1V,R164P,R164Q,R169L,R91Q" "0,0,0,0,0,0" 23423 8513 sw1184;dbsnp24312 SASH1_HUMAN;NP_056093.3 "A1125T,H419R,I1228V,K578T,K779R,L132V,L315F,P1079L,P298Q,P828S,Q110E,Q382H,Q884R,R1089Q,R108Q,R1171Q,R1229I,R627H,R820Q,R920C,S1028R,S387F,S749L,S992I,T235M,T405A,T768A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23328 1290 sw11851;sws1347;dbsnp27802 ADA18_HUMAN;NP_055052.1 "A565T,C436R,E723G,I123L,I635K,K654R,L7F,M221I,M344I,M362K,M602I,P170S,P30S,Q142L,R481H,R543Q,R543W,R710I,R726C,S151Y,S536L,S716T,T223S,T568A,T677I,V212F,V284G,V730I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8749 3711 sw11853;dbsnp18458 NEUR2_HUMAN;NP_005374.2 "A145T,A328T,A61T,A93V,H168N,R152Q,R182Q,R204C,R41Q,S11R,V175M" "0,0,0,0,0,0,0,0,0,0,0" 4759 8979 sw11854;dbsnp17043 DOP2_HUMAN;NP_005119.2 "A1273T,A184T,A341T,A649V,C1118G,C1118Y,D547N,E22D,G1410S,G1844S,G2139E,L1418V,L1594I,L1998H,M1356I,M1357T,N1599K,N45Y,P1149H,P1149S,P2136T,P473A,R1217S,R1342W,R1401H,R1401L,R1702C,R1938H,R2055C,R678K,R837C,S1021L,S1021W,S188N,S272Y,S580L,S596L,S705F,T1568N,T1711M,T1832S,T1964P,V1450F,V1660I,V1896L,V189I,Y838C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9980 303 sw11855 WNK2_HUMAN R974L 0 65268 304 sw11856;dbsnp22394 ZN330_HUMAN;NP_055302.1 "L298M,M228V,N256K,R52K,S116G,T28A" "0,0,0,0,0,0" 27309 10397 sw11857 R3HC1_HUMAN "A136T,R185K" "0,0" 203069 7008 sw11858 NOC2L_HUMAN "A271V,I300V,S556L" "0,0,0" 26155 3620 sw11859 RL36_HUMAN K67E 0 25873 13909 sw1185;dbsnp13199 TM63A_HUMAN;NP_055513.2 "A136P,A136T,A457V,A667T,D29N,F121I,F533L,H138D,I17V,I202T,I270F,L206F,L636V,N190H,N368S,P5A,P751L,R228Q,R584C,S474Y,T437A,T627I,V160I,V622M,W194C,Y391C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9725 3022 sw11860 RWDD3_HUMAN V47A 0 25950 11550 sw11861;dbsnp10997 CCDC9_HUMAN;NP_056418.1 "A309V,A456V,D411E,E215D,G92R,H139Y,I401S,L478P,P395R,P470S,P493S,R128H" "0,0,0,0,0,0,0,0,0,0,0,0" 26093 6115 sw11862;dbsnp6830 PYGO1_HUMAN;NP_056432.1 "G17S,P237T,P299H,R405H,S155I,S326F,V169L" "0,0,0,0,0,0,0" 26108 8177 sw11864;dbsnp17040 CU025_HUMAN;NP_056315.1 "E545D,K510E,N306S,R408C,T418P,T618A,V211A" "0,0,0,0,0,0,0" 25966 4114 sw11865;dbsnp17454 CV024_HUMAN;NP_056187.1 "A106T,H11L" "0,0" 25775 13720 sw11867;dbsnp24979 HBS1L_HUMAN;NP_006611.1 "A544E,A544V,A611S,A611T,D13E,D548N,E55K,G180R,G440R,G440S,I484V,K424E,L128F,Q150H,Q228E,R44W,S65C,S672Y,S83L,V105A,V147I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10767 4233 sw11869;dbsnp30721 ZN711_HUMAN;NP_068838.3 "A277T,D193E,E622D,G139E,H140D,H274R,M218V,M524T,N601S,Q341H,T221A" "0,0,1,1,0,1,0,0,1,0,0" 7552 3178 sw1186;dbsnp18094 FARP2_HUMAN;NP_055623.1 "A564T,A825T,C696Y,E392K,F58L,G32E,G702W,G988D,H45R,H45Y,K185N,K438R,K842Q,L201V,L414V,M844L,P23A,P873S,R17H,R694C,R729W,R837W,S170L,S896F,T260I,V1003I,V253I,V556I,V643I,V817D,V980M,Y671C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9855 1874 sw11870;sws1350;spmut558;dbsnp12112 DYR1B_HUMAN;NP_004705.1 "E362D,L28P,P578S,R102H,R70Q,S234G,S477P" "0,0,0,0,0,0,0" 9149 3494 sw11871;dbsnp5556 SALL2_HUMAN;NP_005398.1 "A221G,A724V,E906D,G746R,G861A,P100A,P122S,P167T,P168L,P838L,P840R,Q602R,R601Q,S20R,S264F,S489G,S75C,S989P,T616I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6297 2083 sw11873;dbsnp12179 ZN175_HUMAN;NP_009078.1 "C505R,D279H,E203K,G213S,G453R,G555E,H531L,P16S,P670T,Q346P,R144C,R183L,R495L,R495Q,S133C,S287N,T526I,T692A,Y363N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7728 2882 sw11874 MTF2_HUMAN C140S 0 22823 5230 sw11875;dbsnp23478 DMXL1_HUMAN;NP_005500.4 "A2358T,A970S,C1239S,D1100G,D1107Y,E1675D,E1985Q,E617K,E906K,G2733D,H2206D,H2970Y,I1040V,I2000V,I221M,L154I,L1898P,L1964S,L277S,M1589V,N2463D,N2463S,N687S,P1890T,P2274S,P451T,Q1567P,Q1926R,Q2531H,Q338E,R1527Q,R1818I,R1826C,R203Q,R2131S,R571H,S1039C,S1245Y,S2172R,S466R,S851N,T2107S,T2298S,V1228M,V1250I,V2067M,V648I,Y1476C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1657 145 sw11877;dbsnp28691 TLN1_HUMAN;NP_006280.3 "A1470T,A1984T,A2013T,C286R,D1993N,K2104R,K2115E,M1352V,N2005S,N323T,N838S,Q472R,R1515H,R1919W,R2275H,R2329W,R797H,S1164T,S1227L,T1867I,T2098M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7094 229 sw11878;dbsnp25940 ZAN_HUMAN;NP_003377.1 "A1242D,A1375T,A1873E,A2154P,A2511V,A2540V,A58T,C1288W,C1742R,C1903Y,D1100N,D1379H,D2100V,D52E,E1107K,E1502G,E2079K,E2646Q,F1096C,F1969L,F2707L,G113A,G1296S,G1311R,G1465D,G1674C,G1944V,G2297E,G412S,H1483P,H399R,I1995M,I889T,K1776E,L1012R,L1698P,L16F,L2111P,L2349F,L2633P,L871P,L899P,L976F,N2073S,N2474K,N2701K,P1878L,P1878S,P216A,P2509L,P49T,P540L,P633S,P636T,P661T,P756L,P783S,Q2115H,Q430H,R1124W,R1625Q,R182W,R1882H,R1922C,R1922H,R1924P,R2433W,R2507H,R2630H,R2634C,S2035T,S2205N,S2690I,S690T,T1041I,T1541I,T1650K,T2059A,T2060I,T2527M,T693M,T761I,T917M,V1248I,V1372M,V1960G,V2395I,W2430R,W2643R,Y2334S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7455 173 sw11879;dbsnp24161 KIF3A_HUMAN;NP_008985.3 "K172I,R686H" "0,0" 11127 3644 sw11880;sws1351;dbsnp26148 TRRAP_HUMAN;NP_001231509.1 "A1925V,A2613G,A2671T,A3345V,E188K,E2750D,E409D,K2801E,M2030I,M3671L,N2040S,P3792S,R878L,R893C,S1070G,S2433G,S3790C,S3804R,T2063M,T3667M,T489S,V2042A,V2042I,V524M,W2139G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8295 83 sw11881;dbsnp25876 NF2L3_HUMAN;NP_004280.5 "A217P,D479E,E230G,H643R,I309V,I674V,K621E,L92F,M565T,N226S,N325S,N346K,P504R,P515S,P83S,Q311R,R526G,R568G,S473T,S481N,T332I,T355I,V441E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9603 4127 sw11882;dbsnp11234 O10H1_HUMAN;NP_039228.1 "A142T,A167T,A224D,A65V,C204G,E52Q,G119D,G16R,H128N,H175Q,I226V,K296R,L153S,L216P,P138L,R122H,R139W,R90H,T57M,V124M,V300F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26539 10444 sw11883;dbsnp21016 ARIP4_HUMAN;NP_055921.2 "A1201T,A1445D,E949Q,F1369L,G737E,L249F,N1408D,P353L,P358R,P421L,R445Q,R70W,S997N,T565A,V541I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23132 872 sw11885;dbsnp20534 VPRBP_HUMAN;NP_055518.1 "I744V,L1031P,L378F,N267D,P99L,Q123L,R195C,R934Q,S250G" "0,0,0,0,0,0,0,0,0" 9730 814 sw11886;sws1352;spmut1055;dbsnp18375;dbsnp18376 KDM3A_HUMAN;NP_060903.2;NP_001140160.1 "A743V,C417F,C496Y,D362G,D826N,E194K,F939C,I212V,K470I,M843V,N1068I,N502S,P118S,R886W,S447P,V1131I,V710E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55818 1129 sw11887;dbsnp27357 MFHA1_HUMAN;NP_004216.2 "A225V,A846G,C446Y,E80G,G755R,H564Q,K574Q,L163V,L209M,L471V,L892P,N834S,P79R,Q881H,R510S,T241M,T241R,T756S,Y498N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9258 1888 sw11888;dbsnp3657;dbsnp3658;dbsnp3659 RBM19_HUMAN;NP_001140170.1;NP_057280.2;NP_001140171.1 "A534T,E913K,H294L,H474Y,H609R,H802R,I623T,K164E,K259R,K351N,L124V,L794F,Q602E,R143Q,R551C,R71Q,R821G,R862H,R921Q,R921W,T250S,T665A,T665S,V234M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9904 2286 sw11889;dbsnp2063 DGLA_HUMAN;NP_006124.1 "A131V,A578G,A749V,A750V,D945E,G735V,L988V,M656I,P889L,V117I" "0,0,0,0,0,0,0,0,0,0" 747 1930 sw1188;dbsnp27973 PROSC_HUMAN;NP_009129.1 "A16S,C15Y,K121R,M225L,M225V,M53V,T245M,V24M" "0,0,0,0,0,0,0,0" 11212 11361 sw11890 PLXD1_HUMAN "H894R,L1412V,M870V,P617S,S1542N" "0,0,0,0,0" 23129 467 sw11891;sws1353;dbsnp5104 FARP1_HUMAN;NP_005757.1 "A638V,A865T,A884T,E646D,F1002L,G398E,H644Y,H913Q,I748M,K1040R,M734V,P231L,P677Q,P8L,R1025C,R659W,R902C,S487L,T9I,V1044L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10160 14263 sw11892;dbsnp5730 F179B_HUMAN;NP_055906.2 "C1283S,D227N,D948G,E1131K,E416Q,F459V,G1430V,I1072F,L511V,M456T,N1017D,N1156D,P1643L,Q1229H,Q281R,S1351P,S721I,S900L,S921R,V372I,V411G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23116 620 sw11893;dbsnp25109 FA65B_HUMAN;NP_055537.2 "A1042T,A145G,A329S,E424K,E495K,I1024T,I638S,Q630K,R371Q,R520C,R868P,R868Q,R908K,S452C,T1015I,T987S,V320M,V882I,Y229F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9750 1829 sw11895;dbsnp6589 TLN2_HUMAN;NP_055874.2 "A1148S,A1148T,A1330T,A1565T,A2280T,A2359T,A451V,A66E,A66T,A772T,D1159E,E1045D,E2137Q,F1851I,F2266L,G1267V,G2279S,G2542D,G974R,L2471F,N680S,N752S,R2239H,R2473H,R457C,R613T,R666Q,R755H,R93W,S1143L,S938A,T1058A,T1353S,T135I,T1607I,T1959M,T2144I,T2144S,V1852F,V1877I,V2213M,V2445L,V340A,V605L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83660 229 sw11896;dbsnp4955 IRS2_HUMAN;NP_003740.2 "G1057D,G1235R,G879S,G882A,H1328R,H789Y,P1013T,S956L,V200G,V999M" "0,0,0,0,0,0,0,0,0,0" 8660 1090 sw11898;dbsnp2548 MTL5_HUMAN;NP_004914.2 "A280G,C223R,C317R,C397R,E405G,E45K,P347S,P59L,R446Q,V260A" "0,0,0,0,0,0,0,0,0,0" 9633 6515 sw11899;dbsnp10345 DTNA_HUMAN;NP_001381.2 "P586L,R653Q,R676Q" "0,0,0" 1837 3679 sw1189;spmut627;hgmd0613_1579 ERLN2_HUMAN V71A 0 11160 9717 sw118;dbsnp20600 O5H15_HUMAN;NP_001005515.1 "C249S,C97Y,E111K,F200L,F85S,G152R,G152S,G64E,I104F,I106T,I57S,L62F,M258I,N138T,N308H,N42Y,P254T,P265L,R122L,S148T,T167S,V108I,V212M,V299L,W50R,Y19F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403274 10270 sw11900;spmut1130;dbsnp27441 LOXL2_HUMAN;NP_002309.1 "A25E,D624N,D87N,E35K,G534R,M570L,N408S,N606H,R71L,R98Q,S308R,S359W,S772C,T587N,V339M,V53L,V703M,V720A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4017 3416 sw11901 AIM1_HUMAN "C1395Y,C491R,E1196A,G267D,L1096V,Q293P,T1445S" "0,0,0,0,0,0,0" 202 613 sw11902;spmut1158 M4K5_HUMAN "A334T,H41Y,I446V,N473K,P407L,R552Q,T633M" "0,0,0,0,0,0,0" 11183 2923 sw11903;spmut1790;dbsnp14499 RN115_HUMAN;NP_055270.1 "D276N,G194R,S283N" "0,0,0" 27246 10781 sw11904;spmut171;dbsnp18881 ATG4B_HUMAN;NP_037457.3 "L354Q,Y8C" "0,0" 23192 8636 sw11905;dbsnp26822 TBL2_HUMAN;NP_036585.1 "A333T,E8Q,Q5E,R112C,R370W,V345I" "0,0,0,0,0,0" 26608 7643 sw11907;dbsnp7541 TELO2_HUMAN;NP_057195.2 "A11D,A11T,A511V,D763N,E2G,E7G,E7Q,E7R,G25D,L435F,P278A,P355L,P590L,P5R,Q146R,Q674R,R170C,R358H,R607W,R675W,S317N,V193A,V515F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9894 2988 sw1190;dbsnp16815;hgmd0613_1634 PRP6_HUMAN;NP_036601.2 "G927R,R729W,V525I,V915M" "0,1,0,0" 24148 2385 sw11910 UD2A1_HUMAN R75K 0 574537 4139 sw11911;dbsnp28980 CCL27_HUMAN;NP_006655.1 "I78V,L96F,M107I" "0,0,0" 10850 14516 sw11913;dbsnp17267 SAM50_HUMAN;NP_056195.3 "D110G,I345V,K227T,M135V,P377A,R267Q,R423C,R87C,R92H,T129M,V46I,Y426C" "0,0,0,0,0,0,0,0,0,0,0,0" 25813 7228 sw11914 PRC2C_HUMAN "E468G,L1868R,P1771S,P1924R" "0,0,0,0" 23215 161 sw11915;dbsnp15853 HES2_HUMAN;NP_061962.2 "A57V,N50S,P139S" "0,0,0" 54626 13488 sw11916;dbsnp27893 LRP12_HUMAN;NP_038465.1 "C355G,D761N,D839N,I777L,L795P,R732C,R828C,S694G,T743A,Y217D" "0,0,0,0,0,0,0,0,0,0" 29967 2840 sw11917;sws1356;dbsnp11566 SHAN1_HUMAN;NP_057232.2 "A6V,D897E,G2091C,H866N,M718T,R867C,R874H,T1978M,V1504A" "0,0,0,0,0,0,0,0,0" 50944 352 sw11918;spmut1781;dbsnp5721 RIPK3_HUMAN;NP_006862.2 "E260V,G423R,P318L,P492Q,R239Q,S268N,S320P,T300M,V379A,V379D,W348R" "0,0,0,0,0,0,0,0,0,0,0" 11035 6346 sw11919;dbsnp14822 IPP_HUMAN;NP_005888.1 "E221K,F547I,I102T,I140T,K264R,R249H,R427C" "0,0,0,0,0,0,0" 3652 5355 sw1191;dbsnp12125 LPHN1_HUMAN;NP_001008701.1 "A1453E,A339V,A567T,A6T,E595Q,E750D,G600S,I56V,I925V,I980V,R1178Q,R354H,V327I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 22859 864 sw11920;dbsnp26790 ASB4_HUMAN;NP_057200.1 "C378Y,Q225R,V17L" "0,0,0" 51666 8019 sw11921;dbsnp28618 INSL6_HUMAN;NP_009110.2 "A48V,C45S,F80L,H135R,K31E,L12I,L16V,P2L,P2S,Q79E,S8T" "0,0,0,0,0,0,0,0,0,0,0" 11172 12676 sw11922;dbsnp8965 OR1A2_HUMAN;NP_036484.1 "A110E,A297T,C189R,G256C,H159Y,I287F,L244F,R139W,R260C,R260H,T163I,T254M,W293C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 26189 9419 sw11923 CCD41_HUMAN Q70R 0 51134 4069 sw11924;dbsnp13739 KCTD3_HUMAN;NP_057205.2 "F9V,S257N,S808Y,T164I" "0,0,0,0" 51133 3113 sw11925;spmut1402 NUB1_HUMAN Q13R 0 51667 4711 sw11926;dbsnp13827;dbsnp13828 YTHD2_HUMAN;NP_057342.2;NP_001166599.1 "P454S,S289L,T217S,V221M,V284I" "0,0,0,0,0" 51441 5345 sw11927;dbsnp10428 CTDP1_HUMAN;NP_004706.3 "A106V,A389V,A754S,D583E,D775N,D863V,E534D,I639V,L755S,P519H,R179Q,R599H,R799C,S282F,S356P,S61A,T223M,T340M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9150 2283 sw11929;dbsnp23212 PCDB9_HUMAN;NP_061992.2 "A239V,A408E,F746S,K414E,L426M,L703F,P296S,P361S,R124S,R461Q,S174P,S185G,S534T,T422N,V264A,V549L,V660L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56127 3101 sw1192;dbsnp9195 ABCA8_HUMAN;NP_009099.1 "A1344T,A1490V,A253G,A416V,A642S,C1244Y,C1445Y,C680G,E1476D,E1539D,F1099V,F419S,G1019E,G1185E,G1430S,G331S,G476E,I215F,I230V,K325N,K753N,L1279S,L1482V,L619R,L721I,L816F,M1416T,M251I,M26I,P609R,Q1578H,Q890E,R1178Q,R1421Q,R1501W,R431C,R66W,R964Q,S931L,T1225I,T1266M,T12S,T256A,T632S,V1042I,V1082M,V1104I,V1550I,W1182R,Y166S,Y489F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10351 706 sw11930;dbsnp23213 PCDB7_HUMAN;NP_061763.1 "A501T,A526T,A717V,D161Y,E120K,E187K,E416A,G379R,G471R,G471S,G57R,G721S,I356T,I487T,L576V,N414S,N445S,P575L,Q638H,R652C,R714K,R716W,R785S,R99G,S493P,S568G,S757F,T610A,V389L,V586L,V617L,V689L,V690L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56129 3206 sw11931;dbsnp22999 PCDB6_HUMAN;NP_061762.1 "A294S,A473V,A543V,D408N,E621G,F132I,G41D,G530S,G776D,H636Q,H657Q,L120F,L232F,L547V,L610P,L684F,M137T,M347L,N254H,S524A,S541R,T418I,T452I,T532A,T585I,V194M,V231I,V34I,V379I,V421I,V446A,V458I,V737L,Y747H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56130 3206 sw11932;dbsnp23056 PCDB5_HUMAN;NP_056484.1 "A130S,A199G,A219T,E527Q,I156T,I384N,L685F,L699F,N566K,P372T,P673R,R460G,R498C,R535H,R577W,S464N,S720P,T481N,T486N,Y416H,Y87H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26167 3206 sw11933;dbsnp22998 PCDB4_HUMAN;NP_061761.1 "A421T,A447D,A447P,A525E,A694V,D285H,K168R,K397R,N387T,P112L,P255L,P255S,P385S,P538S,Q484R,Q749P,R135T,R368L,R477T,R632G,R651C,S258P,S473R,S60F,T437N,T553A,V44L,V459I,V459L,V690L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56131 3206 sw11934;dbsnp22953 PCDB3_HUMAN;NP_061760.1 "A683P,D300G,E207K,G594S,G648D,G758D,H638Q,H659Q,I142T,I454T,K41R,L167F,L84F,R202P,R414S,S796T,T150I,T348S,T534A,T81I,V367G,V67E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56132 3101 sw11935;dbsnp22954 PCDB2_HUMAN;NP_061759.1 "A121T,A245G,A536T,A637T,D448N,D686Y,F108L,F516L,G760D,G760E,H514R,I58M,L141R,L493P,L674P,N356S,N380K,N775S,P431T,Q31H,Q640H,S280P,T798S,V128I,V335L,V425I,V619A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56133 3206 sw11936;sws1357;dbsnp23074 PCDBF_HUMAN;NP_061758.1 "A450S,A570V,A693T,D684Y,E58K,F529L,F538S,G324A,G63E,H735Y,L491P,L585P,L95M,P153S,P672Q,P769L,P9S,Q659H,Q680E,R461P,R494Q,R625L,S173Y,S474R,T501S,T508A,V551L,Y521H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56121 3206 sw11937;dbsnp23375 PCDBD_HUMAN;NP_061756.1 "A508T,A554S,D343G,D410Y,F153S,F703L,G511S,H536R,K199N,L55P,L685F,L685S,P149L,P499S,P775T,R471G,R652C,S187R,S534T,S543R,T152A,T327N,T587I,V550L,V644I,V692M,V737E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56123 3206 sw11938;dbsnp23376 PCDBC_HUMAN;NP_061755.1 "A508T,A554T,E313K,G324R,G379R,G471R,G568S,G594S,H536L,H659Q,H750R,I126V,I312T,K763E,L252R,N238S,N274S,P147S,P220A,P496L,P577S,P721L,P721R,R625S,R652C,S396L,S698W,T420I,T8N,V439L,V644I,V697A,V727M,Y401C,Y604N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56124 3206 sw11939;dbsnp23090 PCDBB_HUMAN;NP_061754.1 "A545T,D528E,D553E,F764L,G163R,G22A,G532S,H638Q,K181T,L205R,L550V,P449A,P672R,P678Q,Q296R,Q4R,Q659H,Q76R,R7H,S68F,T420I,T450A,T452S,T587I,V367I,V660L,Y401H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56125 3206 sw1193;dbsnp2271 PCF11_HUMAN;NP_056969.2 "A518V,E1402K,E1536D,E944D,H1119Y,P1108S,P263T,P795L,Q651H,S1520G,T1491S" "0,0,0,0,0,0,0,0,0,0,0" 51585 773 sw11940;dbsnp22952 PCDB1_HUMAN;NP_037472.2 "A524V,E137D,E88Q,F385L,F778L,G42D,I712T,K275Q,K495E,K719I,L390F,R5G,R751W,T611I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29930 3101 sw11941;dbsnp23240 PCDGM_HUMAN;NP_061752.1 "A10T,A518V,D428N,D570G,G275S,G2R,G725A,L124V,R141H,R323G,R453H,R904H" "0,0,0,0,0,0,0,0,0,0,0,0" 56097 2367 sw11942;dbsnp23709 PCDGJ_HUMAN;NP_061750.1 "A51S,A631V,D799H,G615R,R549H,R889H,V405L,V796I" "0,0,0,0,0,0,0,0" 56099 2367 sw11943;dbsnp23420 PCDGI_HUMAN;NP_061749.1 "A285T,A462G,A722T,E296D,H758L,K297T,K65E,L410P,P113L,P684S,R372W,R890H,S775A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56100 2405 sw11944;dbsnp23515 PCDGH_HUMAN;NP_061748.1 "E296K,G188S,G646A,G732R,G742R,H208R,N554H,P412L,R209H,R557W,R883H,S594L,T260A,Y282C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56101 2405 sw11946;dbsnp23678 PCDGE_HUMAN;NP_061746.1 "C8S,D342V,K687E,M458I,N293S,P26R,P569T,P79T,R12P,R248T,R679P,R891H,V58I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56103 2405 sw11947;dbsnp23706 PCDG9_HUMAN;NP_061744.1 "A516V,L461F,L791F,P256S,P541R,P579S,Q679H,R892H,T690I" "0,0,0,0,0,0,0,0,0" 56107 2367 sw11948;dbsnp23086 PCDG8_HUMAN;NP_114477.1 "D478N,F770S,H244R,L16R,L675V,N187K,P453L,R65C,R892H,S503W,V671L" "0,0,0,0,0,0,0,0,0,0,0" 9708 2367 sw11949;dbsnp23237 PCDG7_HUMAN;NP_061743.1 "A516T,A713E,E188G,F314S,G21R,L212F,M291I,N400S,P23T,P361A,R176H,R892H,T239M,V365F,V643E,V643G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56108 2405 sw1194;dbsnp22158 FRYL_HUMAN;NP_055845.1 "A1285T,G1187S,H1520D,I1878V,P1236T,P890S,P8S,Q1360K,T2178A,T754A,V707I" "0,0,0,0,0,0,0,0,0,0,0" 285527 147 sw11950;dbsnp23242 PCDG6_HUMAN;NP_061742.1 "A631T,D159E,F372L,F707L,G737A,L660V,L807P,Q717R,Q751K,R248S,R892H,S641R,T760S,V442M,Y208N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56109 2367 sw11951;dbsnp23464 PCDG4_HUMAN;NP_061740.1 "A150T,A492S,D570E,D683H,E144K,F133L,P462R,R282W,R641K,R891H,S781N,V284L,Y460C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 56111 2367 sw11952;dbsnp23560 PCDG3_HUMAN;NP_061739.2 "A331S,A743V,D478V,I154L,L567F,L660V,P79S,R62H,R892H" "0,0,0,0,0,0,0,0,0" 56112 2367 sw11953;dbsnp23521 PCDG2_HUMAN;NP_061738.1 "C229Y,D595N,F551L,F567L,F806L,H177N,H607R,I249L,I420V,I646V,I683K,L660V,N429I,P614Q,P669S,Q524H,Q5R,R454C,R535Q,R71M,R892H,S250N,S354G,T265A,V743A,Y692D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56113 2367 sw11954;dbsnp23593 PCDGB_HUMAN;NP_061737.1 R895H 0 56105 2405 sw11955;dbsnp23469 PCDGA_HUMAN;NP_061736.1 "H411L,I89V,R896H,S684P,S767P,S796F,S796P,T499N,V647I" "0,0,0,0,0,0,0,0,0" 56106 2405 sw11956;dbsnp23350 PCDG1_HUMAN;NP_061735.1 R891H 0 56114 2405 sw11957;dbsnp23009 PCDA9_HUMAN;NP_114063.1 "A379S,A446D,A452E,A512T,A616S,A686D,A733G,C387Y,C96G,D380G,E40K,E422K,E422Q,E501Q,F64L,G430R,G572R,G97R,I896T,K138R,K764Q,K764T,L336V,N175S,P61Q,P840R,Q534E,Q612K,R411S,R595P,R681Q,R807H,S28R,S68F,S906G,T43N,T461S,T944M,V508M,V667M,V740L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9752 2345 sw11958;dbsnp23062 PCDA8_HUMAN;NP_061734.1 "A519S,D2N,E527G,E55D,E567K,F64L,G515V,G763A,G97R,I508M,I896T,K263R,K579E,L611Q,M179K,N189T,N403T,P113S,P269R,P543Q,P765Q,P765R,P840R,Q789H,R297Q,R417S,R569P,R72G,R807H,R98Q,S150Y,S166A,S411T,S760F,S78N,S906G,T367I,T386N,T512A,T628A,T944M,Y405S,Y718H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56140 2345 sw11959;dbsnp23459 PCDA5_HUMAN;NP_061731.1 "A121T,A380V,A426S,A438T,A691V,D375V,E187K,E203G,E689Q,E728K,F771L,G571A,G624E,I882T,L20F,M146I,P642L,P826R,Q458E,R793H,S535T,S892G,T258A,T353N,T475K,T930M,V440L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56143 2345 sw1195;dbsnp2046 ENDD1_HUMAN;NP_055851.1 "C56Y,G446V,I245V,M388V,R208G,V350M" "0,0,0,0,0,0" 23052 6658 sw11960;dbsnp23278 PCDA3_HUMAN;NP_061729.1 "A562T,C759Y,E55D,G193R,G431D,G72R,I289T,I318V,I896T,L260P,L647P,L84M,P256T,P328S,P61Q,P676S,P840R,R62L,R635G,R807H,S286L,S28R,S331L,S440I,S906G,T662M,T944M,V418M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56145 2345 sw11961;dbsnp23504 PCDA2_HUMAN;NP_061728.1 "A503T,A67T,D181V,D638N,E239G,E25K,E57A,G42S,G614C,I140M,I228M,I894T,K138R,L264I,L611I,N209K,N362K,P113T,P764L,P838R,R428P,R805H,S173I,S189N,S904G,T353P,T942M,V106L,V116F,V694M,Y310C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56146 2345 sw11962;dbsnp23584 PCDAB_HUMAN;NP_061725.1 "I895T,P839R,Q61P,R806H,S199Y,S905G,T399I,T943M,W418S,Y33C" "0,0,0,0,0,0,0,0,0,0" 56138 2345 sw11963;dbsnp23011 PCDAA_HUMAN;NP_061724.1 "A419V,A690T,C386R,D449H,D449N,D482E,E36Q,F43L,G52R,G671D,G71R,G784W,G81D,G81S,H391Q,I789V,I894T,L232S,M250T,P642R,P838R,Q60P,R61L,R805H,S27R,S439R,S904G,T639A,T942M,V367I,V509M,V585G,Y400F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56139 2345 sw11964;dbsnp23281 PCDA1_HUMAN;NP_061723.1 "A158D,A158T,A592G,A744E,C759F,D768E,E271Q,G224D,G685D,I474V,I896T,K124T,N449H,P220Q,P36L,P469L,P726R,P840R,R360G,R807H,S103N,S434P,S773N,S906G,T738I,T738S,T944M,V510A,V549M,Y732C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56147 2345 sw11966;dbsnp15011 PHLA3_HUMAN;NP_036528.1 "A116V,A60S,L120F,R28Q" "0,0,0,0" 23612 14298 sw11967;dbsnp2454 TIM9B_HUMAN;NP_036324.1 "A66S,G90S,R12G" "0,0,0" 26515 14607 sw11968;dbsnp16314 SPO11_HUMAN;NP_036576.1 "A202V,D14E,D151N,D216Y,D326Y,E9K,M91V,N152H,R183G,R211W,T36A,V150I" "0,0,0,0,0,0,0,0,0,0,0,0" 23626 8666 sw11969;dbsnp11202 KLK4_HUMAN;NP_004908.3 "C148S,C148Y,G159D,G80R,H197Q,I16T,P227L,S22A,V233M,Y77S" "0,0,0,0,0,0,0,0,0,0" 9622 11826 sw11970;spmut2317;dbsnp15029 UCHL5_HUMAN;NP_057068.1 "F78Y,I197F,N4S,T153M,V169L" "0,0,0,0,0" 51377 10168 sw11972;dbsnp29141 ENTP2_HUMAN;NP_982293.1 "A103V,E101K,E178K,F354V,G230S,H50R,R193Q,T51M,V186G,V480I" "0,0,0,0,0,0,0,0,0,0" 954 6751 sw11973;dbsnp20134 SRPRB_HUMAN;NP_067026.3 "F148S,R252G,V9L,W54R" "0,0,0,0" 58477 11463 sw11974;dbsnp16717 HRH3_HUMAN;NP_009163.2 "A280V,V362I,V389I" "1,0,0" 11255 7673 sw11975 HEMK2_HUMAN "K146R,K166R" "0,0" 29104 12656 sw11976;spmut1424;dbsnp7624;hgmd0613_1678 ORC6_HUMAN;NP_055136.1 "I108T,I108V,P138Q,R32W,Y232S" "0,0,0,0,1" 23594 11869 sw11977;dbsnp2225 O51B4_HUMAN;NP_149419.2 "A185T,A187G,A226V,A310P,A65T,E89K,F191L,H173N,L84M,M147T,M1T,N40K,R124C,R137G,S168F,S6G,V36I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79339 10656 sw11978;dbsnp2278 O51B2_HUMAN;NP_149420.4 "C120R,C209S,G41V,H308Y,L134F,P283S,S291N,S312R,T62I,W2G" "0,0,0,0,0,0,0,0,0,0" 79345 10374 sw11979 RAI2_HUMAN "A342P,M252V" "0,0" 10742 6133 sw1197;spmut770;dbsnp6697 GLCE_HUMAN;NP_056369.1 "A84T,K83R,M491V,M65V,S612N,V381I,V597I" "0,0,0,0,0,0,0" 26035 4944 sw11980;spmut248;dbsnp23877 C43BP_HUMAN;NP_005704.1 "G67E,K599R,R158H,R269C,T210M" "0,0,0,0,0" 10087 3596 sw11981 GMPPB_HUMAN Q184R 0 29925 8866 sw11982 P2R3B_HUMAN "A519V,D163E" "0,0" 28227 1555 sw11983;dbsnp2659 FADS3_HUMAN;NP_068373.1 "K192N,N216K,R75H,V198M" "0,0,0,0" 3995 6644 sw11984;dbsnp16888;hgmd0613_1371 MAFB_HUMAN;NP_005452.2 "P59L,P63R,P71L,P71S,Q168K,S54L,S66C,S69L,S70A,S70L,T62P" "1,1,1,1,0,1,1,1,1,1,1" 9935 10329 sw11985;spmut405;dbsnp21952;hgmd0613_1523 CORIN_HUMAN;NP_006578.2 "A357S,A41G,C13Y,C295R,C443Y,D444G,D574E,E10K,E374K,H525R,K317E,L127F,N309S,P235L,Q568P,R45W,R792H,S472G,S683C,T555I,T709I,T752I,V361M,V416I,Y576C" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 10699 1931 sw11986;dbsnp13035 INSL5_HUMAN;NP_005469.2 "G96A,Q50L,R21W,R71H" "0,0,0,0" 10022 14167 sw11988;dbsnp18995 TF3C3_HUMAN;NP_036218.1 "N375K,N70I,N70S,P113R,P842A,T878M,T882A" "0,0,0,0,0,0,0" 9330 2689 sw11989;dbsnp16095 MMP24_HUMAN;NP_006681.1 "R404H,R564H,T130M,W133G" "0,0,0,0" 10893 4380 sw1198;spmut776;dbsnp19286 GLSK_HUMAN;NP_055720.3 "A254P,A432S,H89P,K346Q,N654S" "0,0,0,0,0" 2744 4379 sw11990;dbsnp20336 HEMK1_HUMAN;NP_057257.1 "H200Q,I42V,P232T,R134W,R192Q,R207Q" "0,0,0,0,0,0" 51409 9950 sw11991;dbsnp28812 DMRT2_HUMAN;NP_870987.2 "A216V,A363V,A381P,A422V,A428V,A68T,D49H,D510G,E458Q,H406N,N272S,P271A,R382Q,R434G,S388R,S396L,T413M,V328M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10655 5671 sw11992;dbsnp28777 DMRT1_HUMAN;NP_068770.2 "H135Y,K346R,N224S,P295L,R258W,R281S,S45T,V147I,Y221S" "0,0,0,0,0,0,0,0,0" 1761 9142 sw11993;dbsnp8810;dbsnp8811 TPPC1_HUMAN;NP_001160093.1;NP_067033.1 "Q119K,R129G" "0,1" 58485 14016 sw11994;dbsnp9183 TRPV2_HUMAN;NP_057197.2 "G17A,G65D,N764S,V758I,W455L" "0,0,0,0,0" 51393 3487 sw11995;sws1358;dbsnp6025 MRCKB_HUMAN;NP_006026.3 "A1276T,A1623T,A983V,D1069E,D1152E,D1485N,D1575H,E334K,I1077V,N749K,P1002L,P1411S,R555Q,R570Q,R671G,R671Q,R671W,S1633Y,V197M,V537M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9578 604 sw11996;dbsnp29742 NOX1_HUMAN;NP_008983.2 "A55V,C109F,D360N,G152D,G224D,I114V,I413V,M302V,M312T,R228W,R241C,R241H,R287Q,R315H,R378K,T453A,T65M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27035 5543 sw11997;dbsnp4912 DJC15_HUMAN;NP_037370.2 "K74T,K85R,R35G,R4G,R95Q,T147I,V133I,W61C" "0,0,0,0,0,0,0,0" 29103 13922 sw11998;spmut2292;dbsnp17012;dbsnp17014 UBP16_HUMAN;NP_006438.1;NP_001027582.1 "D240V,E417K,E533K,E788Q,I470M,I470V,I592R,I686M,K715Q,M366T,Q141H,R642C,V219M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10600 3072 sw11999;dbsnp1580 TSSC4_HUMAN;NP_005697.2 "A127V,A193V,D196Y,E172K,G138S,G262R,H17P,H226Q,H274P,R124Q,R230S,S320C,T76M,V222I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10078 10169 sw1199;dbsnp11404 HAUS5_HUMAN;NP_056117.1 "A277D,K57E,P213L,Q580R,R130W,R308Q,S530R,T142M" "0,0,0,0,0,0,0,0" 23354 4761 sw119;dbsnp2008 TR49B_HUMAN;NP_001193555.1 "H221D,H288R,L398M,L399R,M1V,R122W,R389C,T335I,T99A" "0,0,0,0,0,0,0,0,0" 283116 7546 sw11;dbsnp20911 PLS5_HUMAN;NP_001078889.1 R110S 0 389158 10433 sw12000;dbsnp14413 TNR18_HUMAN;NP_004186.1 "A9V,D83N,E64K,E69K,E78Q,K129T,K233N,R200Q,R235W,T43R,V173M" "0,0,0,0,0,0,0,0,0,0,0" 8784 11810 sw12001;dbsnp25194;hgmd0613_1789 MPC1_HUMAN;NP_057182.1 "L36I,L79H,R97W" "0,1,1" 51660 14162 sw12002;dbsnp10701;hgmd0613_1788 IR3IP_HUMAN;NP_057181.1 "L78P,R57Q,V21G" "1,0,1" 51124 14815 sw12004;dbsnp11555 KLF2_HUMAN;NP_057354.1 "L104P,R145P" "0,0" 10365 9544 sw12006;spmut1988;dbsnp26054;dbsnp26055;hgmd0613_733 SNX10_HUMAN;NP_001186764.1;NP_037454.2 "P198L,S187I" "0,0" 29887 12944 sw12007;dbsnp6527 NR2E3_HUMAN;NP_055064.1 "A256E,E121K,E140G,G287S,G56R,G88V,K324R,L263P,L336P,L353V,M163T,M407K,R104Q,R104W,R309G,R311Q,R334G,R385P,R76Q,R76W,R97H,S44L,V232I,V302I,V366M,W234S" "1,1,0,0,1,1,0,1,1,1,0,1,0,1,1,1,0,1,1,1,1,0,0,0,0,1" 10002 8385 sw12009;dbsnp13939;hgmd0613_1659 FLVC1_HUMAN;NP_054772.1 "A241T,A52P,C192R,D313N,E318K,G493R,L199F,N121D,P542S,Q540R,S553A,T544M" "1,0,1,0,0,1,0,1,0,0,0,0" 28982 5771 sw1200;dbsnp23857 ABLM3_HUMAN;NP_055760.1 "G125D,H397N,N19S,R266Q,R367W,R449W,R513C,R552Q,R616L,S357T,S535L,S583P,T232A,T232I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22885 4243 sw12010;dbsnp8039 NUBP2_HUMAN;NP_036357.1 "A112V,D73N,I114V,P250S,R149C,R172H,R74C,T180M,T180R,T200A,T200M,T266M" "0,0,0,0,0,0,0,0,0,0,0,0" 10101 10390 sw12011;sws1360;dbsnp19290 GPR45_HUMAN;NP_009158.3 "A163T,L312F,R247Q,T187M,V40A" "0,0,0,0,0" 11250 8175 sw12012;spmut1485;dbsnp1988 PD2R2_HUMAN;NP_004769.2 "C152G,H72N,V204A" "0,0,0" 11251 8691 sw12013 PEX16_HUMAN V116I 0 9409 9776 sw12015;dbsnp2296 LYVE1_HUMAN;NP_006682.2 "E279K,E286V,G70S,L114P,P104L,P304R,Q50E,T214I,V315M,W116R" "0,0,0,0,0,0,0,0,0,0" 10894 10350 sw12016;sws1361;dbsnp20657;hgmd0613_1516 SCNAA_HUMAN;NP_006505.2 "A1886T,A1886V,A493T,A607S,C1523Y,C60Y,E285K,E825D,F386C,G1662S,G590R,G810W,H1868P,I1158M,I1225T,I206M,I381V,I962V,L1092P,L554P,M1713V,P1045T,P1877L,P477L,P945L,P991L,R1268Q,R14L,R1869C,R485C,R508W,R814H,S1337T,S509P,V1073A,V1287I,V1697I,V380I,V396I,V620I,V948L,Y482H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6336 418 sw12017;dbsnp24291 HEBP2_HUMAN;NP_055135.1 "D143N,E191A,G178D,K47Q,M85V,P35L,R140Q,T86I" "0,0,0,0,0,0,0,0" 23593 12859 sw12018;dbsnp3562 HCFC2_HUMAN;NP_037452.1 "A22P,A46S,E228K,E379K,G268A,I179L,N461K,P119S,Q722H" "0,0,0,0,0,0,0,0,0" 29915 3276 sw1201;dbsnp20585 SLIK3_HUMAN;NP_055741.2 "G867C,H863R,I605V,M475I,R170Q,R861C,S767T" "0,0,0,0,0,0,0" 22865 2194 sw12020;dbsnp24750 ETV7_HUMAN;NP_057219.1 "A86T,E81K,G79R,R64H,R96L,R96Q" "0,0,0,0,0,0" 51513 9879 sw12022;spmut1137;dbsnp21028 LRRF2_HUMAN;NP_006300.1 "C598G,H86Y,I630T,K143E,L159P,L289S,M414L,R270C,R450W,R653W,R87W,S291R,T192I,T520M,Y184C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9209 3872 sw12023;spmut41;dbsnp28900 ACL7A_HUMAN;NP_006678.1 "A161P,A245V,A260V,G214S,G87S,H297Q,K159N,L343V,N258Y,P37L,P387L,R136Q,R45C,S295R,V340M,V391L,Y183H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10881 7864 sw12024;dbsnp3555 IRAK3_HUMAN;NP_009130.2 "D482N,G269S,G84S,H57R,I147V,I171V,I270V,K203R,L400V,M314V,M391T,N329D,P111A,P22L,R384Q,R384W,R412Q,R429Q,R96H,R97Q,S288L,V134M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11213 5187 sw12029;dbsnp8719 MYH4_HUMAN;NP_060003.2 "A1117D,A1282V,A1311T,A1676V,A594T,D1802G,D464N,E1148K,E1209K,E1549A,G256D,G595D,I1106M,I266N,K1001N,K1795R,K1795T,K1911E,L902S,M166T,P735T,Q1658H,Q329R,R1140H,R1254C,R1283C,R1348Q,R1479C,R1698W,R1785Q,R1845H,R1862C,R1862S,R1901C,R1913Q,R1913W,R191C,R791C,S1261R,S1278L,S1603N,T1377S,T1517K,T415I,T790M,T883M,V1749I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4622 434 sw1202;dbsnp16116 RNF37_HUMAN;NP_055763.1 "A144T,A400D,E44Q,L217V,L421P,L479P,R190Q,T96M" "0,0,0,0,0,0,0,0" 22888 5969 sw12030;dbsnp4979 GPC6_HUMAN;NP_005699.1 "G22R,I5S,L86F,M331L,P344S,R524W,V412M" "0,0,0,0,0,0,0" 10082 5753 sw12031;dbsnp27943 CBPQ_HUMAN;NP_057218.1 "A273P,E106G,I204V,I36V,I50V,K30E,L151P,M245I,Q283E,R323H,S138N,S421G,T154I,T217A,V287I,V331G,Y92D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10404 7173 sw12032;dbsnp5336 SOX21_HUMAN;NP_009015.1 "G230R,K91N" "0,0" 11166 11350 sw12034;dbsnp29158 SPIN1_HUMAN;NP_006708.2 A221P 0 10927 11650 sw12035;dbsnp23466 S12A7_HUMAN;NP_006589.2 "A244S,A337T,A351V,A408T,A417T,C163R,C308R,D995V,E746K,G202S,G537S,G728V,I1081V,M1055V,M774T,N804S,P368L,R318H,R535H,R875W,S397L,S729L,S751F,S84L,T382M,V480M,V706M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10723 1553 sw12036 ALG6_HUMAN F304S 0 29929 6523 sw12037;dbsnp25296 RT18B_HUMAN;NP_054765.1 "A244V,F135Y,G196S,L18F,L18V,P14L,P14R,P14S,P209L,P230A,P55S,R149Q,T131M,T242I,V120M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28973 11751 sw12038;spmut403;dbsnp21325 COPG1_HUMAN;NP_057212.1 "G704R,I55T,L240V,M681T,R247H,R86Q,Y477C" "0,0,0,0,0,0,0" 22820 2747 sw12039;dbsnp14465 GMEB1_HUMAN;NP_006573.2 "E555G,N275S,P528L,V14A,V8G" "0,0,0,0,0" 10691 5516 sw1203;dbsnp4177 FBX21_HUMAN;NP_296373.1 "N180T,N625H" "0,0" 23014 4813 sw1204 KDM4B_HUMAN "K710E,N29T" "0,0" 23030 1727 sw12040;dbsnp25440 S22A7_HUMAN;NP_696961.2 "G507V,R101C,R229H,R303K,R327W,R82C,S132F,T110I,V351M,W276C" "0,0,0,0,0,0,0,0,0,0" 10864 5872 sw12041;dbsnp17845;hgmd0613_1453 CCG2_HUMAN;NP_006069.1 "A214T,D168A,F182L,L196R,S165F,V143L" "0,0,0,0,0,1" 10369 10330 sw12042 POMT1_HUMAN L285F 0 10585 3633 sw12043;dbsnp21815 TACC3_HUMAN;NP_006333.1 "A783D,A783T,C275Y,D406N,D709G,E143K,E519K,E597K,G253V,G261E,G287S,G514E,P284S,P378L,P417L,Q4R,R400L,R400Q,R786W,S552L,T208A,T483A,T66M,V283M,V577M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10460 2980 sw12045;dbsnp13375;dbsnp13376 AP4B1_HUMAN;NP_006585.2;NP_001240781.1 "A83P,I397V,I503T,I575V,L480S,R130Q,S323T,S615A,T256I,V252A,V300L,V348L,V348M,Y120N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10717 3712 sw12046 EMIL1_HUMAN "E903K,Q149R,Q536R" "0,0,0" 11117 2044 sw12048;dbsnp1678 MTCH2_HUMAN;NP_055157.1 "C270Y,F237S,H119Q,K300R,P106L,P290A,R126Q,R68H,R68S" "0,0,0,0,0,0,0,0,0" 23788 10802 sw12049;dbsnp19929 SELK_HUMAN;NP_067060.2 R50S 0 58515 14728 sw12051;sws1364;spmut214;dbsnp27694 BIG1_HUMAN;NP_006412.2 "A1315V,A1483S,A1695V,D266Y,D273Y,E76D,G356V,I152L,N398S,N398T,P1552Q,R1584S,R1662C,T296I,Y314C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10565 525 sw12052;sws1365;dbsnp26122;dbsnp26123;dbsnp26124 MD1L1_HUMAN;NP_003541.2;NP_001013858.1;NP_001013859.1 "E511K,N160S,R495M,R556H,R558H,R558P,R572H,T299M,T500M" "0,0,0,1,1,0,1,0,0" 8379 3896 sw12053;spmut2062;dbsnp5242 STK24_HUMAN;NP_003567.2 "A414V,L35V,L426I,S311N" "0,0,0,0" 8428 7711 sw12054;dbsnp26801;dbsnp26802 BZW2_HUMAN;NP_054757.1;NP_001153239.1 "D44A,G162S,I108V" "0,0,0" 28969 7584 sw12055;dbsnp19955 PARP3_HUMAN;NP_005476.3 "A41S,A41T,E293Q,H100R,Q269R,S91N" "0,0,0,0,0,0" 10039 5995 sw12056 MRVI1_HUMAN Q270H 0 10335 2544 sw12057;dbsnp25181 TM14A_HUMAN;NP_054770.1 "C37R,G40S,P27L,R22W,R45C" "0,0,0,0,0" 28978 14667 sw12058;dbsnp23153 COMDA_HUMAN;NP_057228.1 "I128S,K154Q,N142D" "0,0,0" 51397 12919 sw12059;dbsnp20426 DC1L1_HUMAN;NP_057225.2 "D143G,G130A,G23A,G488V,G77R,H172R,I30R,M147T,Q277R,T508R,V139I,V146A" "0,0,0,0,0,0,0,0,0,0,0,0" 51143 6242 sw1205;spmut1763;dbsnp22963 RHBT3_HUMAN;NP_055714.3 "G153E,I119T,I293L,I293V,N262D,P21R,R20Q,S154R,T429M,V102I" "0,0,0,0,0,0,0,0,0,0" 22836 5010 sw12060;dbsnp27120 CHCH2_HUMAN;NP_057223.1 "H78N,P14S,P2L" "0,0,0" 51142 13902 sw12061;dbsnp3269 ATP23_HUMAN;NP_150592.1 "A229E,A229G,A229V,A33S,E210V,H233Q,S48C" "0,0,0,0,0,0,0" 91419 11995 sw12065;spmut2305;dbsnp6922 UBP3_HUMAN;NP_006528.2 "I326M,N486S,P360T,S284F,T426I" "0,0,0,0,0" 9960 6309 sw12066;dbsnp8539 WSB1_HUMAN;NP_056441.6 "D181H,L16S,L210W,N149S,N97S,P410A,R7S" "0,0,0,0,0,0,0" 26118 8137 sw12067;dbsnp16110 PXMP4_HUMAN;NP_009169.3 "L49V,P151S,P155L,V13L,V195I,V204I" "0,0,0,0,0,0" 11264 12701 sw12068;dbsnp20850;dbsnp20851;dbsnp20852;dbsnp20853 TX264_HUMAN;NP_001230655.1;NP_001230654.1;NP_057010.1;NP_001123356.1 "G292E,L302P" "0,0" 51368 10587 sw1206;sws135 SO2B1_HUMAN I392T 0 11309 3979 sw12072;sws1366;spmut524;dbsnp19774;dbsnp19776 DNM3A_HUMAN;NP_072046.2;NP_783328.1 "A628D,E30A,G699D,N501S,P904L,P904Q" "0,0,1,0,0,0" 1788 2543 sw12073;dbsnp3618 OAS3_HUMAN;NP_006178.2 "A49T,R18K,R18M,R18T,R378K,R492H,R65W,R767C,R869H,R932Q,S381R,T673M" "0,0,0,0,0,0,0,0,0,0,0,0" 4940 1764 sw12074;dbsnp13369 KAD5_HUMAN;NP_777283.1 "G453R,K203N,R465Q" "0,0,0" 26289 5656 sw12075;spmut1347;hgmd0613_658 NEMO_HUMAN "A288G,A323P,C417F,C417R,C417Y,D113N,D311N,D406V,E315A,E315Q,E57K,L153R,L227P,M407V,R123W,R173G,R175P,R319Q" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 8517 6880 sw12077;dbsnp7499 TEST_HUMAN;NP_006790.1 "A233D,N133S,P186S,R264Q,R267W,S58C,S58G" "0,0,0,0,0,0,0" 10942 10437 sw12078;spmut1866;dbsnp20536 S4A7_HUMAN;NP_003606.3 "E252D,E326K,E356K,H895Y,L1071F,N756D,N756S,P819A,P896S,R262Q,R58H,R806C,R82W,T563A,V824L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9497 1383 sw12079;dbsnp27334;hgmd0613_1299 NDUB9_HUMAN;NP_004996.1 "P146A,P146S,R129Q,R175Q,R47L,Y37H" "0,0,0,0,0,0" 4715 13376 sw12081 CLCA3_HUMAN "I104T,Y84T" "0,0" - 2373 sw12082;dbsnp6455 SQRD_HUMAN;NP_067022.1 "D184N,H163Y,I264T,I56T,M291I,R101C,R12H,R442H,V318M,V74A,Y415F" "0,0,0,0,0,0,0,0,0,0,0" 58472 7595 sw12083;dbsnp28450;hgmd0613_1450 LAMC3_HUMAN;NP_006050.3 "A1116G,A1137P,A1244T,A1387V,A490V,D1042N,E1023K,E1084K,E1084Q,E1127K,E544G,G1044V,G1107R,G172S,G350R,G567R,G598R,G642S,G647R,G699D,G759D,H73Q,I236T,N743D,P174H,P471T,P522S,P566S,P689L,P797L,R123L,R1264W,R1382S,R1424H,R1459Q,R1472W,R1475H,R152C,R173W,R180C,R31L,R356C,R606S,R638H,R770G,R996H,S1082G,S1124F,S1125L,S1521A,S1524Y,S813N,S813R,S873L,T1034M,T1377I,T1433M,T680M,T839M,V1062I,V1225A,V187M,V516G,W1047L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10319 759 sw12084;dbsnp20596 ROBO1_HUMAN;NP_002932.1 "A1169G,A1426V,D1583N,E1533D,H40Y,L1271F,L1579F,M1274I,P1188L,P1505S,P530S,Q1539R,R1244Q,R1563H,R922H,S1055N,S1091N,S1602N,V1454L,V336A,V838I,Y1311C,Y328H" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 6091 686 sw12085;sws1367;dbsnp23170 CAD10_HUMAN;NP_006718.2 "H394Q,Q538H,R766Q,S413F,T159M,T470I,V182I" "0,0,0,0,0,0,0" 1008 3205 sw12087;dbsnp24783 SESN1_HUMAN;NP_001186862.1 A10V 0 27244 5835 sw12088;sws1368;dbsnp30118 CAN6_HUMAN;NP_055104.2 "E130K,I520S,K427E,N344K,R408C,R412Q,T498I,T518I,V277L,V398F" "0,0,0,0,0,0,0,0,0,0" 827 4684 sw12089;dbsnp18120;dbsnp18121 STON1_HUMAN;NP_006864.2;NP_001185524.1 "D179E,D371H,D731H,E395Q,E495K,G118V,G33S,G479W,G560C,I66V,K334N,K8N,L458V,N422K,P613A,Q544H,Q607H,R127T,R555M,R569K,R637Q,S270R,S274F,S362P,V533L,Y558C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11037 1475 sw12090;dbsnp28680 ZFP37_HUMAN;NP_003399.1 "C298R,D250E,E577K,K621T,L175I,L49M,N464D,N64Y,Q521R,V7D" "0,0,0,0,0,0,0,0,0,0" 7539 4803 sw12092;spmut1327;dbsnp16137 NCOA3_HUMAN;NP_858045.1 "A70V,D811H,G1125D,G460R,I556V,L369F,M1247K,M1247L,M391V,N1333I,N1333S,N283D,P1079L,P1282S,P382L,P467Q,P544S,P559S,Q1118P,Q1182L,Q1182R,Q586H,R218C,R220I,S752F,S777A,S937C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8202 949 sw12093;spmut1865;dbsnp22448 S4A4_HUMAN;NP_001091954.1 "A454V,A843V,E648K,E758Q,E90D,F892L,G424D,K602R,M797V,N684I,P771S,R174W,R342S,R554H,R925C,S471L,T529S,V748A" "0,1,0,0,0,0,0,0,0,0,0,0,1,1,1,1,1,0" 8671 1737 sw12094;sws1369;spmut1153 M3K4_HUMAN "E1413Q,I294T,R157H,R566H" "0,0,0,0" 4216 726 sw12095;dbsnp10977 FCGBP_HUMAN;NP_003881.2 "A1343V,A138V,A1514S,A1514V,A1613V,A2793V,A3841E,A3916V,A4606G,A5017V,A5099V,A5211T,A5279V,C4214Y,D2077E,D3847E,D3847H,D4906H,D5158N,E1168G,E1938K,E2640K,E2646D,E2647K,E2796Q,E4340K,E5026D,E5260Q,G1008R,G1019R,G1148S,G1160R,G1239R,G1333R,G1469R,G1616V,G2670R,G3264S,G3406A,G3842C,G3871R,G3973C,G4095D,G4160S,G4465S,G4749S,G645E,G764R,G929R,G966V,H1167Y,H1193Q,H1445D,H2433Y,H3920Q,I1442F,K838T,L3954V,L5305F,M1617V,N1604S,N2089D,N770S,P1231L,P1436L,P2625S,P2636L,P2637L,P2649S,P3162L,P3171S,P3826S,P3923H,P4602S,P4620S,P4665L,P4732L,P4788S,P5215S,P5307L,P742S,Q1324H,Q1385L,Q2719H,Q2735P,Q3936P,Q4738H,Q5052L,R1017W,R1089H,R1266H,R1267C,R1348C,R1606Q,R287G,R4222H,R4318H,R4343W,R434Q,R4598C,R4909H,R4909S,R4942H,R4944Q,R4950Q,R5217H,R5341C,R569C,S2183T,S2645R,S3384T,S4285P,S4585T,S4767L,S495L,S5401P,S5401T,T1524N,T15N,T3150I,T4351I,V1088M,V1275M,V1329I,V1340L,V200A,V268I,V2814A,V3159G,V4015A,V4337A,V4601L,V5077I,V732A,V971M,Y1112N,Y4195C,Y872C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8857 21 sw12096;dbsnp5675 RPKL1_HUMAN;NP_113652.2 "A233V,A277T,A308T,E460K,G157R,G360S,H325R,M249T,P121L,Q406E,R21Q,R332W,R58Q,S241R,T296A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83694 5859 sw12097;dbsnp26767 DGKB_HUMAN;NP_004071.1 "D78G,F599L,G789S,S123C,V430I" "0,0,0,0,0" 1607 3181 sw12098;spmut57;dbsnp26093 ADSV_HUMAN;NP_001106177.1 "A443P,A532G,D531N,F455L,H61R,K116R,K500R,L47V,L578F,P154A,R145L,R146G,R447Q,R462Q,S109N,V211M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85477 3337 sw12099;dbsnp17571 RN215_HUMAN;NP_001017981.1 "A322T,G241R,P318R,T361I,V270M" "0,0,0,0,0" 200312 9048 sw120;dbsnp7207 GOG6B_HUMAN;NP_061122.4 "D439N,E298G,E365K,E421D,G648A,K284E,P674S,Q483H,R200W,R208Q,R368Q,S433F,V351L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55889 4133 sw12101;dbsnp12021 DDX49_HUMAN;NP_061943.2 "G21S,G327R,L61S,N256S,P59S,R222H,R300L,R300Q,R413W,R464H,R467G,S296A,T257M,T386I,V376M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54555 6949 sw12102;sws1370;dbsnp10366;hgmd0613_1760 SETBP_HUMAN;NP_056374.2 "D868A,D868N,E1466D,G1270S,G870D,G870S,H1100R,I871T,P1130T,P350S,R1321H,R156K,R401Q,R54H,R627C,R627H,S1264A,S495T,T1260M,V1101I,V1377L,V231I,V231L,V257M" "1,1,0,0,1,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26040 736 sw12103;dbsnp14780 PIAS3_HUMAN;NP_006090.2 "A587V,G614V,M500V,P223L,P81H,R592C,R592H,S390C,S595R,S616F,T99M" "0,0,0,0,0,0,0,0,0,0,0" 10401 4584 sw12104;dbsnp25045 ENPP4_HUMAN;NP_055751.1 "H144Q,I255V,L8S,S439A,S92F,T182S,Y150F" "0,0,0,0,0,0,0" 22875 7533 sw12105;sws1371;dbsnp4917 MYO16_HUMAN;NP_055826.1 "A1258T,A1600S,A1822T,A520T,D181E,E1109K,E1756K,E446A,F687I,G1245R,G1608R,G370V,I1016V,I1171M,L1790I,M1191V,M276K,M385T,M600L,M934I,N118S,N216D,N614D,N865H,P1656H,P831A,Q456H,Q696K,R1128Q,R1247G,R564G,S1316N,S521R,V284M,V339I,V533M,V90I,Y1222C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23026 504 sw12106;dbsnp27660 ZHX2_HUMAN;NP_055758.1 "A424T,E824Q,G519S,G539S,G779S,M99V,P342T,P715S,R517Q,R561Q,R613Q,R649K,T355A,T768A,V212M,V357M,V388I,V410A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22882 2989 sw12107;dbsnp15124 CMTA1_HUMAN;NP_056030.1 "A1493V,A397T,A697V,E1191D,E462K,F1484L,G1387D,G189S,G383S,G565S,I37V,I666M,K1209R,L109V,N1177K,N1218T,P1188S,P1219A,R1378H,R474P,R976K,S636G,S652L,S707C,S969L,T1336I,V334M,V435M,V460M,V733I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23261 669 sw12108;dbsnp404 S23IP_HUMAN;NP_009121.1 "A241S,A45T,A718V,D638H,E267K,F260L,G507C,I793V,K644E,L690R,N34S,P209S,P307L,P823L,Q177H,R480Q,R865H,R865L,S189N,T414M,V311I,Y950H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11196 2109 sw1210;dbsnp21869;dbsnp21870 SC31A_HUMAN;NP_001070675.1;NP_055748.2 "A854S,D528V,D7G,I171V,I263V,I379T,L610F,M845V,N456K,P1031L,P1055T,P1088T,P841L,P945S,Q345E,Q856P,R1175G,T303K,V1066I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22872 1357 sw1211;dbsnp8620 CMTA2_HUMAN;NP_055914.2 "A267P,A286T,A900G,A926D,D878G,E1191Q,M354V,N751T,P304L,P32L,P367S,Q211H,R804C,R807C,R807H,R956Q,R972Q,S903P,V960M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23125 1309 sw1212;spmut434;dbsnp14323 CSTN1_HUMAN;NP_001009566.1 "A332T,A332V,A550S,E480K,E925G,E951D,F870S,G176E,I388V,N355S,N538S,P583R,P857H,R415W,R742C,R783G,R891Q,R891W,S524C,S952T,T172M,T353A,V109I,V188M,V474A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22883 2176 sw1213;dbsnp6593;hgmd0613_1720 CE152_HUMAN;NP_055800.2 "A1109P,E1238K,E253D,E253K,E815G,I394V,K667R,L694F,L914V,Q265P,R115Q,R957W,S54L,S793I,V1106A,W960R" "0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0" 22995 630 sw1214;dbsnp21874 FA13A_HUMAN;NP_055698.2 "A14V,A179V,A293S,E450K,I427V,L444S,L943I,N437S,P931S,R186C,R186H,R286K,R311Q,R50W,R648Q,R789H,R821W,S527N,S642A,T824R,V449D,V769I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10144 2013 sw1215;dbsnp8699;dbsnp8700 ARHGF_HUMAN;NP_079290.1;NP_776089.2 "A108T,D201H,D289Y,D86N,G155V,G159A,G159V,G830V,H488N,L277P,L75I,P133L,P60A,P73S,Q821H,R23C,R417L,R546P,R775W,S490N,S831P,S832P,T789N,T835N,V471I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22899 2948 sw1216;dbsnp23093 SOX30_HUMAN;NP_848511.1 "E216K,E229K,L540P,N667S,P152L,P564A,Q429K,Q563P,S203N,S491I,S560L,T559A,V495M,V749M,Y697H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11063 3584 sw1217;dbsnp26212 OR2F2_HUMAN;NP_001004685.1 "A98V,R131Q,R220Q,R220W,T170A,T240M,Y278H" "0,0,0,0,0,0,0" 135948 10147 sw1218;dbsnp26478 OR6B1_HUMAN;NP_001005281.1 "A117T,A307S,I213V,Q100H,R128C,R143C" "0,0,0,0,0,0" 135946 10111 sw1219;dbsnp26484 SEM3D_HUMAN;NP_689967.2 "A318G,D186N,H424Q,I676T,K701Q,L330S,L54F,P405L,P615T,R572H,S65P,T222A,T439A,T646M,V434L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 223117 3388 sw121;dbsnp23659 CE051_HUMAN;NP_787117.3 "C179S,I71F,I71V,K196E,L82I,P180L,Q20H,S6F" "0,0,0,0,0,0,0,0" 285636 10997 sw122 ZN840_HUMAN Y181C 0 100130863 3905 sw1220;dbsnp18791 UPP2_HUMAN;NP_775491.1 "A2G,M78L,P207S,R10S,R136Q,R225L,R300W,T208N,T49K" "0,0,0,0,0,0,0,0,0" 151531 9123 sw1221 ZO3_HUMAN M912T 0 27134 2414 sw1222;dbsnp26278 INMT_HUMAN;NP_006765.4 "A114T,A157T,D28N,D88N,E219G,F254C,H144R,H46P,M205L,M205V,N246S,P189L,P202L,P261S,R258C,R258H,V138L,V214M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11185 11606 sw1223;dbsnp6623 CCNB2_HUMAN;NP_004692.1 "A215S,A215T,A53T,I395T,L148S,M100T,R164C,V135I" "0,0,0,0,0,0,0,0" 9133 7897 sw1224;spmut2312;dbsnp27606 UBR5_HUMAN;NP_056986.2 "G116S,I746M,L901F,Q780H,S2011P,S2150R,S913G,T2269A,V2127M,V2685F" "0,0,0,0,0,0,0,0,0,0" 51366 176 sw1225;dbsnp6023;dbsnp6024 REC8_HUMAN;NP_001041670.1;NP_005123.2 "P294L,R31C,V411F" "0,0,0" 9985 5879 sw1226 FSBP_HUMAN R226K 0 25788 2558 sw1228;dbsnp26327 AGFG2_HUMAN;NP_006067.3 "A202T,A306T,A308T,A328P,C39S,M349T,Q206H,R82C,T298I,T365N,V197I" "0,0,0,0,0,0,0,0,0,0,0" 3268 6980 sw1229;dbsnp17088 SFR15_HUMAN;NP_065757.1 "A1142T,D1058E,F341L,I575V,I763L,N1007D,Q399H,R463Q,S438T,S846Y,T282A,V1093L,V302L,V357I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57466 1565 sw1230;dbsnp1696 ZN202_HUMAN;NP_003446.2 "A186T,G533A,H193Y,K259E,Q73K,S252N,V154A,V446I" "0,0,0,0,0,0,0,0" 7753 4602 sw1232;dbsnp29054 TNF15_HUMAN;NP_005109.2 "F110L,H21Q,M227L,R25K,R34H" "0,0,0,0,0" 9966 11884 sw1233;dbsnp8907 RIMB1_HUMAN;NP_004749.2 "A1140P,A1584P,A226T,A321V,A586T,A645G,C1304Y,D1301N,D1342E,E787K,F118V,G1157V,G1599S,G1830E,G79E,H1118L,H1728R,H821R,I857V,L1490P,P1121S,P1184H,P1539L,P1546S,P940S,Q1623H,Q1749R,Q480H,Q514R,Q817R,R1253C,R1355Q,R1480Q,R1565C,R1577W,R1601P,R1655Q,R215L,R654G,R872C,R889Q,R936W,S516N,S60N,T1517S,W851R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9256 519 sw1234;dbsnp13452 ARK73_HUMAN;NP_036199.2 "A255V,A284V,A301V,E122K,E55K,G279S,H320R,L287P,N215D,P309L,Q178R,R193S,T323A,V138M,V312M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22977 9442 sw1235;spmut2285;dbsnp14763 UBE4B_HUMAN;NP_001099032.1 "E441G,L571F,N722S,P1266A,Q1075H,Q483R,V260M,V605I,V665I,V72G" "0,0,0,0,0,0,0,0,0,0" 10277 1162 sw1236;spmut2398;dbsnp2743 ZFPL1_HUMAN;NP_006773.2 "A265V,D138N,E168K,N149S,P239L,R218Q,R222Q,R264Q,R285H" "0,0,0,0,0,0,0,0,0" 7542 10648 sw1238;dbsnp9330 CDRT1_HUMAN;NP_006373.2 "A713V,F216L,F643L,N378D,N644H,R627Q,R89K,T411M,V596L,V708M" "0,0,0,0,0,0,0,0,0,0" 374286 1887 sw1239;dbsnp5005 SCEL_HUMAN;NP_659001.2 "D431N,D664E,E221G,H69R,K480R,L511F,N111D,N529S,P166L,P677S,R386K,S175L,S175W,V336L,V585L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8796 4182 sw123;dbsnp3969 F186A_HUMAN;NP_001138947.1 "A1660V,A363V,D2033G,D437N,E1586D,E432K,E577D,E587Q,G1096E,G1648R,G1770V,G1841R,G2216R,H1074L,H2166Y,H2228Q,I1046R,K187Q,K2224R,K683N,L110F,L1233P,M2193I,N108T,P1050S,P1734A,P1982L,Q2316E,Q869R,Q912R,R1204G,R2156C,R2156H,R2162S,R216C,R61L,R645K,R822W,T414S,V1661I,V1689A,V485I,W2314R,Y1899C,Y2031C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 121006 287 sw124 K1875_HUMAN "E537G,H427Q,R149G" "0,0,0" 340390 709 sw1242;dbsnp11416 NDUA7_HUMAN;NP_004992.2 "K48Q,P66A,V64M" "0,0,0" 4701 14500 sw1243;dbsnp21951 UNC5C_HUMAN;NP_003719.3 "A628E,A628T,A679V,A841T,D353N,D747G,D747N,G37V,H871Y,M721I,M721T,N467S,P689A,R278Q,R603C,V107L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8633 2424 sw1244 OAZ2_HUMAN P70L 0 4947 13185 sw1245;dbsnp20499 CSPG5_HUMAN;NP_001193872.1 "A164G,G188V,G334S,S231A,T417P,T460P,V510I" "0,0,0,0,0,0,0" 10675 5596 sw1247;dbsnp5106 RCBT2_HUMAN;NP_001259.1 "A263T,A267T,C264Y,C515S,D354E,E41D,N241S,P15A,Q297H,Q297P,S298F,V365I,V372M,Y105C,Y105S,Y449H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1102 5821 sw1248;dbsnp7370;dbsnp7371 ZN205_HUMAN;NP_001035893.1;NP_003447.2 "A255D,A37T,A74S,Q495L,S181L,S517T,T402P,T43A" "0,0,0,0,0,0,0,0" 7755 5781 sw1249;sws137;dbsnp5042 PCDH8_HUMAN;NP_002581.2 "D313N,E39A,L672Q,M944T,P500L,S932C,T367A,V743A,W22C,W7R" "0,0,0,0,0,0,0,0,0,0" 5100 1817 sw1250;dbsnp9253 EPN2_HUMAN;NP_055779.2 "A428V,E219D,F109S,K318E,M593V,M616V,P365T,P531T,P532T,R465W,S237P,S426A,T179P,T470R,T484A,V14M,V401A,V401G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22905 4681 sw1251;dbsnp14508 ZRAB2_HUMAN;NP_976225.1 "R207G,R324C" "0,0" 9406 10139 sw1252;dbsnp1982 OR5F1_HUMAN;NP_003688.1 "A274V,C255S,D170G,L166S,L86F,M284T,P79S,Q54R,R307T,S106A,S294N,T192A,Y123F,Y278H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338674 9361 sw1253;dbsnp2010 OR6A2_HUMAN;NP_003687.2 "A121T,A208V,A22V,A259T,H93Y,I233T,I286V,I50V,P23Q,R4Q,S187C,T104I,T41N,V230M,V253A,V302I,V37A,Y264F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8590 10111 sw1254;dbsnp309;dbsnp310 ZWINT_HUMAN;NP_127490.1;NP_008988.2 "A230V,A4S,G21R,P240L,Q69P,R187G,R187S,R203W,R245Q,R257K,T251I" "0,0,0,0,0,0,0,0,0,0,0" 11130 11324 sw1255;dbsnp308 VENTX_HUMAN;NP_055283.1 "A165V,A226E,E101K,G108D,G191R,G247D,L42P,M251V,M79V,N178S,P230T,R143C" "0,0,0,0,0,0,0,0,0,0,0,0" 27287 11740 sw1256;spmut1067;dbsnp23382 KI20A_HUMAN;NP_005724.1 "E63K,H521R,H711R,K827Q,N483S,P839L,P8L,Q656R,R298H,S190N,S44F,S635T,V484M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10112 2660 sw1257;dbsnp17295 APOL3_HUMAN;NP_663615.1 "A112V,A135V,A196T,A228T,C13W,G32V,G35V,I326T,R338Q,R377Q,R71G,S20G,S39R,T220I,V232M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80833 8539 sw1259;dbsnp24739 SPDEF_HUMAN;NP_036523.1 "A299T,A49T,A57T,E135K,G27D,I143V,P13R,P169S,P78S,R192C" "0,0,0,0,0,0,0,0,0,0" 25803 10010 sw125;dbsnp7001;dbsnp7002 RCCD1_HUMAN;NP_001017919.1;NP_291022.2 "A217S,A302V,A8S,G362A,L210P,L249M,L249V" "0,0,0,0,0,0,0" 91433 9066 sw1260;dbsnp29610 KIF4A_HUMAN;NP_036442.3 "A426S,A491V,A496T,D1189V,E1042K,E1202Q,F693L,L1193S,L422W,N1163S,P1114A,R652H,S1028P" "0,0,0,0,0,0,0,0,0,0,0,0,0" 24137 1328 sw1261;dbsnp19924 MBD4_HUMAN;NP_003916.1 "A273S,A273T,C61R,D568H,E346K,I358T,K421R,K518R,N467S,P191L,S342P,V228D" "0,0,0,0,0,0,0,0,0,0,0,0" 8930 5404 sw1262 MRP6_HUMAN "A158V,A78T,G207R,G61D,H632Q,I319V,I742V,K281E,L953H,M848V,R1064W,R265G,R64W,R724K,R724L,V417M,V514I,V614A,V665A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 368 817 sw1263;dbsnp18935 I18RA_HUMAN;NP_003844.1 "A188V,A305V,D136G,F514Y,H384R,L428M,L428Q,V350I,V527L" "0,0,0,0,0,0,0,0,0" 8807 5145 sw1264;dbsnp28758 GA45G_HUMAN;NP_006696.1 "G112S,V148G" "0,0" 10912 13623 sw1265;dbsnp30131 UCP5_HUMAN;NP_003942.1 "A19T,E55A" "0,0" 9016 10259 sw1267;spmut9;dbsnp1701 5HT3B_HUMAN;NP_006019.1 "A223T,E122A,E354K,I143T,I149V,I271S,L323V,P265A,R268Q,R294P,S156R,S383L,S4N,V183I,V407G,V441M,Y129S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9177 7739 sw1269;dbsnp25110 KCNK5_HUMAN;NP_003731.1 "A407T,G318V,I420V,K365I,P465T,R263W,R274G,V171I,V352M" "0,0,0,0,0,0,0,0,0" 8645 6687 sw126;dbsnp21984 SWAHB_HUMAN;NP_001025041.1 "A764V,D152G,D516N,D662N,E560K,G168R,G631R,K483N,P172Q,P291A,P377T,P455S,R47H,Y791C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 345079 3263 sw1271;dbsnp3566 RASL1_HUMAN;NP_004649.2 "A702T,A760S,A797V,A93V,C30F,F602L,M351T,R260C,R321H,R328W,R408G,S603T,S88L,T58M,V11L,V374I,V72L,V764I,W53C,W53L,W53S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8437 3169 sw1272 SNAPN_HUMAN S112C 0 23557 14145 sw1273;dbsnp1312 NDUC2_HUMAN;NP_004540.1 L46V 0 4718 14184 sw1274;dbsnp19001;hgmd0613_1224 NDUAA_HUMAN;NP_004535.1 "A232P,A2G,E238K,F167V,N65S,V204G" "0,0,0,0,0,0" 4705 9536 sw1275;dbsnp122 CELF2_HUMAN;NP_001020248.1 D438H 0 10659 6284 sw1279;dbsnp28823;dbsnp28824;dbsnp28825 SMC2_HUMAN;NP_001036016.1;NP_001036015.1;NP_006435.2 "A325T,A619S,A619V,D318H,D601N,E1009K,E514G,E777K,G400V,I179V,K1071R,L277F,N124T,Q970R,S867L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10592 1427 sw127;dbsnp30108 CX065_HUMAN;NP_001020436.1 "R148Q,R156H,T46M" "0,0,0" 158830 13303 sw1280;dbsnp21182 ATG7_HUMAN;NP_006386.1 "A530T,D522E,G408A,G408V,K326Q,P426L,Q170E,S11Y,V471A" "0,0,0,0,0,0,0,0,0" 10533 4048 sw1281;sws138;dbsnp367 TACC2_HUMAN;NP_996744.2 "A1017T,A1066T,A1153D,A1215V,A1425T,A1488V,A151V,A152V,A1536V,A2105T,A2210V,A2331T,A2589V,A2732T,A295V,A448S,A87T,C1011R,C2656S,D1393N,D1753H,D2746N,D485E,D587G,E1034K,E1916K,E2053K,E2152K,E2271D,E719D,E753K,G1321R,G2251R,G2624D,G2730R,G56E,G588V,G810E,G987R,H876Q,I2078T,K940R,L1194F,L2261H,L2261P,L830F,M1100R,M2484V,N2102S,P1045L,P1492L,P1563R,P1813S,P1921L,P1939L,P1973H,P1973R,P2216L,P296L,P437S,Q1308K,Q165R,Q247P,Q2900K,Q783R,R1469Q,R1507Q,R948W,R960K,S1373I,S1373T,S161F,S2209G,S2909T,S620N,S934A,T1894M,T2191M,T2455A,T2482M,T644M,V1271I,V1392G,V1698L,V170I,V2106M,V2197A,V2718I,V2828M,V466L,W1103R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10579 153 sw1282;dbsnp8915 TRI16_HUMAN;NP_006461.3 "A140V,E121D,G561V,G66E,I543V,N457S,R271T,R451Q,R493W,S308L,S507F,T399K,V301I,Y498H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10626 5623 sw1283;dbsnp25170;hgmd0613_1520 SYFM_HUMAN;NP_006558.1 "D169V,I89M,N280S,S34L,S57C,T246M,Y324C" "0,0,0,0,0,0,0" 10667 7572 sw1284;dbsnp7459 OR2C1_HUMAN;NP_036500.2 "A134T,A300T,C149W,C169Y,D191Y,D2E,E180K,F27L,G16S,G312D,L82P,M284T,P58S,R229H,Y257F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4993 9497 sw1285;spmut981;dbsnp2361 IPO7_HUMAN;NP_006382.1 "A979T,E571K,G76V,L804F,T111N" "0,0,0,0,0" 10527 1947 sw1286;spmut132;dbsnp21067 ARI2_HUMAN;NP_006312.1 "E24K,E29D,E57D" "0,0,0" 10425 6782 sw1287;dbsnp24063 TFIP8_HUMAN;NP_055165.2 "E4K,M99L,S151C" "0,0,0" 25816 11042 sw1288;sws139;dbsnp13350 M3K6_HUMAN;NP_004663.3 "A1061T,D200Y,D523H,E1227K,E1227Q,G1233A,H1048R,K1024E,K1125E,M363V,N468K,N622K,P946L,P985L,Q1142R,Q157R,R219W,R375Q,R499C,R544W,R668G,R673L,R913H,S121N,S969N,T455I,T939A,V203I,V203L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9064 1186 sw1289;dbsnp27960 WISP1_HUMAN;NP_003873.1 "A189T,A196T,A205S,P155L,P170L,P60L,R159Q,R161H,R198H,T13I,T145M,V173M,V184I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8840 9251 sw128;dbsnp1577 F181B_HUMAN;NP_787081.2 "G35A,R367P,S251R,V186L" "0,0,0,0" 220382 8013 sw129 GG12J_HUMAN "P16R,R13S,R28Q,Y9C" "0,0,0,0" 729396 14111 sw1291;spmut1960;dbsnp23377 SLU7_HUMAN;NP_006416.3 "G433E,H128Y,I111V,M126L,M229T" "0,0,0,0,0" 10569 5320 sw1292;dbsnp18455 BMP10_HUMAN;NP_055297.1 "A10T,A318T,L4V,N250K,R209C,R96G,T200S,V407I" "0,0,0,0,0,0,0,0" 27302 8052 sw1293;spmut61;dbsnp24346 AGM1_HUMAN;NP_056414.1 "D466N,E362V,E392Q,H13R,L156F,L443V,P538T,R174L" "0,0,0,0,0,0,0,0" 5238 5555 sw1294;spmut1259;dbsnp16543 MOCS3_HUMAN;NP_055299.1 "A164T,K376N,L371V,L414P,S337C,S429A,T165S" "0,0,0,0,0,0,0" 27304 7401 sw1295;spmut1824 RPGF3_HUMAN R193G 0 10411 2476 sw1296;dbsnp13890 UTS2_HUMAN;NP_006777.1 I12T 0 10911 14108 sw1297;dbsnp7978;dbsnp7979 CD2B2_HUMAN;NP_001230575.1;NP_006101.1 "E15G,G231D,R111W,R129W,R131Q,S49R,T262I,T88S" "0,0,0,0,0,0,0,0" 10421 9874 sw1298;spmut2402;dbsnp14033 ZFYV9_HUMAN;NP_004790.2 "A567G,A89V,C355Y,C551G,C984Y,D1320N,H392R,I639V,I995V,K134N,K421E,M207V,P563S,P67S,Q414P,R1133Q,R357W,S1027G,S234A,S234P,T876M,V27A,Y120C,Y287C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9372 948 sw12;dbsnp9505 SC5AA_HUMAN;NP_001035915.1 "A522V,A571T,A596P,A91V,G471E,N96I,V481M" "0,0,0,0,0,0,0" 125206 4033 sw130 HTRB1_HUMAN "A1442T,A1594T,D41A,F1137S,F1578L,G359E,H301Y,K519N,M1405V,M1569V,P1675L,Q1071E,R1008W,R1171C,S1105I,T1486A,V1214M,V1402M,V1601I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339766 635 sw1300 BRI3_HUMAN T123A 0 25798 14323 sw1301;dbsnp103 SVIL_HUMAN;NP_068506.2 "A1055V,A1351E,A1369V,A1619E,A2041V,A377T,A528S,A528T,C1636W,D2079N,E1286K,E313G,E514K,I2005V,K1572R,K2067T,K591N,L1011R,L1374R,L1554R,M1388V,P1235A,P1648L,P503L,R1167Q,R215W,R544H,R641C,R728H,R836W,S1414T,S1688P,S1905N,S238C,S513N,S620L,S668L,S755L,S872L,T1009I,T1630S,T1713I,T373A,T677M,T749I,T841A,T841M,T841R,V1041L,V1352I,V1438M,V1752I,V1803M,V1823M,V189A,V422I,V485G,V935I,Y1710C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6840 334 sw1302;dbsnp10473;dbsnp10474;hgmd0613_2413 PIGN_HUMAN;NP_789744.1;NP_036459.1 "A56V,F904C,F904L,H229D,I470L,K162E,L469F,P42L,R709Q" "0,0,0,0,0,0,0,0,1" 23556 2425 sw1304 NPT2B_HUMAN D634G 0 10568 4165 sw1305;dbsnp17034 LCA5L_HUMAN;NP_689718.1 "A140V,D397N,E111K,F16S,G17S,G547S,K401R,L175F,L506F,P384R,Q295H,R229G,R24S,R40Q,S249Y,S265C,T269I,T269K,T514M,T641P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150082 4364 sw1306;dbsnp23054 ATS2_HUMAN;NP_055059.2 "A1005V,A199V,A250T,D234G,D606N,E331K,E965K,G1169V,G665R,G704S,H447R,P1177S,P1184L,R1182Q,R241H,R255Q,R628H,R827Q,R932Q,S1052A,T831M,V1118M,V245I,V74M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9509 1342 sw1308;dbsnp5210 TGDS_HUMAN;NP_055120.1 "A100S,G15S,H103L,M33V,Q274K" "0,0,0,0,0" 23483 9649 sw1309;dbsnp17069 PSMG1_HUMAN;NP_003711.1 "E143D,I166V,L276F,M88T,S69F,T108I" "0,0,0,0,0,0" 8624 11137 sw1312;spmut1920;dbsnp789 SGPL1_HUMAN;NP_003892.2 "A492T,K129T,K263E,L474F,P565S,R428H,S543L,V21L,Y356C,Y374C" "0,0,0,0,0,0,0,0,0,0" 8879 5570 sw1313;dbsnp8515;dbsnp8516 CLD7_HUMAN;NP_001171951.1;NP_001298.3 "A133T,A170G,K158R,R196C,S206P,V175F,V197A" "0,0,0,0,0,0,0" 1366 12447 sw1314;dbsnp11028 SNG4_HUMAN;NP_036583.2 "A125T,F151S,G184S,G73S,L155F,M50T,P132L,R27W,V70M" "0,0,0,0,0,0,0,0,0" 23546 12252 sw1316;spmut390;dbsnp9143;dbsnp9144 CNEP1_HUMAN;NP_001137247.1;NP_056158.2 "R53W,T12A" "0,0" 23399 12030 sw1318;dbsnp24015 NSA2_HUMAN;NP_055701.1 "H21R,K144E,K144M,K144R,K144T,R11C,V124I" "0,0,0,0,0,0,0" 10412 11699 sw131;dbsnp20954 OR5K3_HUMAN;NP_001005516.1 "A125T,C122R,D269V,E161Q,E265A,F177L,G266A,G266E,G44D,K22Q,L114I,L36P,P260S,P285H,P285L,S7F,V67A,Y60C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403277 10364 sw132 ANTRL_HUMAN P547R 0 195977 5615 sw1320;dbsnp23551 SC24A_HUMAN;NP_068817.1 "H151Y,M789T,N32S,P61T,R154C,S261G,T302I,T396M" "0,0,0,0,0,0,0,0" 10802 1235 sw1321;dbsnp22445 SC24B_HUMAN;NP_006314.2 "A456G,I698V" "0,0" 10427 1235 sw1322;dbsnp24773 VNN1_HUMAN;NP_004657.2 "A174S,A325E,A39V,A63T,A63V,A72V,D146H,D146N,E296D,I373T,I373V,I507T,L463V,N131S,R112H,R157H,T26I,T336A,T405M,V136L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8876 6292 sw1323 VNN2_HUMAN "L404M,T349S,V30A" "0,0,0" 8875 6292 sw1325;dbsnp13256 PRAM1_HUMAN;NP_075389.1 "A22D,A22V,A257T,A349V,A368T,A372G,A393V,A5S,C138R,D392G,E110G,E250D,E436K,F280V,G84W,H244R,H324L,I347V,I361M,I391M,K352E,K352Q,L204M,L437P,M310L,M310V,N233T,N249S,N426D,N426S,P218S,P456L,Q252E,R213H,R219C,R235C,R235G,R265G,R334C,R375C,R375Q,R375W,R386S,S405N,T190M,V238I,V54M,W98R,Y166H,Y194H,Y245S,Y302C,Y316F,Y329F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65121 6996 sw1326;dbsnp13494 PRA12_HUMAN;NP_001074299.1 "C477Y,E347D,E394G,E50K,G460V,G480S,L235I,M157T,N395K,S317G,T199M,T53K" "0,0,0,0,0,0,0,0,0,0,0,0" 390999 6483 sw1329;spmut2253;dbsnp24804 TYDP2_HUMAN;NP_057698.2 "C6F,I307V,L28V,L358S,N59D,N89S,Q249E,R268Q,S166G" "0,0,0,0,0,0,0,0,0" 51567 9354 sw1330;dbsnp13324 CA105_HUMAN;NP_640333.3 "G154R,H118P,K98R,M97V,S137N,T162I" "0,0,0,0,0,0" 92346 13304 sw1331;dbsnp17371 CV031_HUMAN;NP_056185.1 "A55V,C46R,N123S,P13L,R18Q,T210R" "0,0,0,0,0,0" 25770 11092 sw1332;dbsnp14355 MET18_HUMAN;NP_219486.1 "A325V,E10D,F309L,K360M,R318C,R318H,S314R,T75I" "0,0,0,0,0,0,0,0" 92342 9158 sw1334;dbsnp18181;dbsnp18182 ACSL3_HUMAN;NP_976251.1;NP_004448.2 "D430N,F551S,I162V,I667V,K265R,M256V,N97K,R424H,T34A" "0,0,0,0,0,0,0,0,0" 2181 3875 sw1335;dbsnp18764 RPA1_HUMAN;NP_056240.2 "A1141T,E1491G,G1437D,H652Q,I1608M,I815V,K364E,P150A,Q349E,R1202C,R1387Q,R1561W,R158P,R504H,S396N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25885 619 sw1336;spmut1481;dbsnp16943;hgmd0613_1448 PCNT_HUMAN;NP_006022.3 "A1161T,A1194T,A1194V,A1381V,A2336T,A2549T,A2551V,A2891T,A2903P,A2903T,A401S,A595V,A607V,A82T,C215Y,C2254Y,D2065E,D2187Y,D2299N,D47H,D859N,E1872K,E2489K,E2742Q,E457G,F2086L,F2319L,F2347S,G1452R,G1963R,G2437R,G704E,H156R,H1751Q,H2125P,H2247Y,H237Q,H3083Y,I1639V,I174V,K572N,L1649P,L2097P,L2434I,L2882F,L2975P,L904F,M1559L,M171I,M2188R,N1841S,P1524R,P1637L,P2274L,P2329R,P2377L,P2420L,P2901L,Q1449E,Q2027R,Q2361R,Q2468H,Q2659H,Q2792R,Q905R,R1021W,R1163C,R1250W,R1285C,R1429C,R143H,R169H,R1855W,R1953H,R1960Q,R2042H,R208C,R208H,R2212W,R2607Q,R2625Q,R2753H,R2800G,R2800Q,R2800W,R2924H,R3197H,R320K,R3236Q,R3245S,R497H,R507G,R945C,S1153G,S149C,S1985F,S2191P,S2433P,S3091G,T1615M,T191P,T2135M,T2206A,T259M,T2754A,T3005M,T539I,T686A,T879A,V1038A,V1692I,V1894I,V2387M,V242M,V2801L,V2811L,W2239R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5116 112 sw1337;dbsnp26452 DUS4L_HUMAN;NP_853559.1 "D170H,R230Q,R230W,T178A,V169I,V28I" "0,0,0,0,0,0" 11062 10468 sw1338;dbsnp20535 ZBT11_HUMAN;NP_055230.2 "G44S,I402M,N427D,N428S,R382Q,R510P,S449C,T350N,V307I" "0,0,0,0,0,0,0,0,0" 27107 1880 sw1339;dbsnp4023 AN32D_HUMAN;NP_036536.2 "H92R,L46F,L54F,N127I,N74K" "0,0,0,0,0" 23519 11529 sw133;dbsnp4113 OR6C6_HUMAN;NP_001005493.1 "F30Y,F64V,L41F,L41S,L46F,L67S,P105L,P51S,Q22P,S269P,S36T,T188R,T190I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 283365 10547 sw1340;spmut395;dbsnp26683 CNOT4_HUMAN;NP_001177777.1 "A7G,L283V,R497C" "0,0,0" 4850 3944 sw1341;dbsnp9626 NET1_HUMAN;NP_004813.2 "K489E,R211S,R351H" "1,0,1" 9423 5089 sw1343 NTR2_HUMAN "A54V,R282K" "0,0" 23620 8376 sw1344 ASML_HUMAN "R541K,V458M" "0,0" 8623 4891 sw1345;dbsnp18302;hgmd0613_1273 ECEL1_HUMAN;NP_004817.2 "A569V,D142E,D329E,D620N,D655N,E423Q,G623A,G679S,G695S,H10Q,H328Y,K646R,M382I,R390H,R500Q,R702L,R702Q,R702W,R724L,R724Q,R756W,S240R,V774M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9427 3404 sw1346;sws142;dbsnp25135 EYA4_HUMAN;NP_004091.3 "G277S,G302D,G473V,L481M,M329I,R345S,T289M" "0,0,0,0,0,0,0" 2070 4703 sw1347;dbsnp3307 K2C75_HUMAN;NP_004684.2 "A161T,A353T,E240K,E242G,E322K,E337K,E458K,G105R,G43R,G486S,G508S,G513D,I23N,I319N,I367V,K422N,M427T,P117A,R14H,R209Q,R312H,R333C,R333H,R335W,R39C,R39H,R432C,R452H,R527Q,R91G,S485R,S79N,T24A" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9119 4648 sw1348;spmut723;dbsnp25004 FR1OP_HUMAN;NP_008976.1 "A190G,A277P,A5T,D390V,D397E,E108D,F89L,G292E,K271N,L208F,R112Q,R270G,S301P,T204I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11116 8598 sw1349;dbsnp17672 BRD1_HUMAN;NP_055392.1 "A180T,A321S,A730T,D403G,E414G,G776R,K141R,M1006V,R38G,R818C,S106T,S925L" "0,0,0,0,0,0,0,0,0,0,0,0" 23774 1863 sw134;dbsnp21822 HELT_HUMAN;NP_001025058.1 "C19W,G247D,I308M,L147V,P156S,R31L" "0,0,0,0,0,0" 391723 10213 sw1350;dbsnp23005 APBB3_HUMAN;NP_573419.2 "A242D,C231R,F472L,G115E,G165R,G398E,L448P,M307V,N169S,R154C,R154H,R199H,R323Q,R360C,R432C,R437W,R465Q,R477W,S443F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10307 6799 sw1351;dbsnp24623 LY86_HUMAN;NP_004262.1 "I72S,M160V,P134S,S93P,Y121C" "0,0,0,0,0" 9450 13675 sw1352;dbsnp11631 RAB3D_HUMAN;NP_004274.1 "A43V,D45N,N171K,R12W,R151W,V206M,V64I" "0,0,0,0,0,0,0" 9545 12401 sw1354;dbsnp1797 CRTAM_HUMAN;NP_062550.2 "A368G,A78D,C141W,D173G,E16A,E262D,K321R,Q204R,T193M,T253I,T52A,V245A,V376I,V88I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56253 8723 sw1355;sws143;spmut1433;dbsnp20445 OXSR1_HUMAN;NP_005100.1 "A172P,A37D,D475N,I311M,S425T,T304I" "0,0,0,0,0,0" 9943 5920 sw1356;dbsnp17583 RAB36_HUMAN;NP_004905.2 "A85V,D151E,E320K,G120R,H102D,N308D,P50L,R113H,R303W,S269L,V283A" "0,0,0,0,0,0,0,0,0,0,0" 9609 10064 sw1357;dbsnp21849 HS74L_HUMAN;NP_055093.2 "A180V,A311T,D524N,D730A,G685D,I601T,L211S,L568S,N216T,P425S,S43P,S494R,V162I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 22824 2849 sw1358;dbsnp18092 TBCD8_HUMAN;NP_001095896.1 "A1115T,A156V,D656N,F1073L,F1125S,G954R,M1108V,R1079G,R494H,S422N,T317A,Y909C" "0,0,0,0,0,0,0,0,0,0,0,0" 11138 1583 sw1359;dbsnp29047 IL33_HUMAN;NP_254274.1 "A83T,D153Y,H201Q,I263M,K55R,L108F,L138F,V39F" "0,0,0,0,0,0,0,0" 90865 11477 sw135;dbsnp23367 GRCR2_HUMAN;NP_001073985.1 "E43G,G98D,L181F,L58F,M61R,P78L,Q74E,S52G,S52N" "0,0,0,0,0,0,0,0,0" 643226 11942 sw136 ANKUB_HUMAN R217W 0 389161 5933 sw1360;dbsnp11292 ZN682_HUMAN;NP_149973.1 "K460T,R55H,S27N,T209I,V450I,V65M" "0,0,0,0,0,0" 91120 1203 sw1361;dbsnp12798 AP2A1_HUMAN;NP_055018.2 "A305T,P270L" "0,0" 160 2195 sw1362;spmut488;dbsnp28925 DDX58_HUMAN;NP_055129.2 "D580E,E598Q,E773K,I139L,I617T,I916T,N245S,P885S,R546Q,R71H,R7C,S144F,S183I,Y622H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23586 2465 sw1363;dbsnp14237 ZMYM6_HUMAN;NP_009098.3 "D28H,D670E,E1233K,I1119V,I23V,K223E,K47T,K660R,K906E,N364T,P134S,R936C,S1023F,S371F,S77N,V696I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9204 1116 sw1364;dbsnp18658 GPR75_HUMAN;NP_006785.1 "A116T,C160G,F398V,G24E,I203T,L433V,P269L,R145W,S348R,T27A" "0,0,0,0,0,0,0,0,0,0" 10936 5982 sw1365;dbsnp13355 TTC4_HUMAN;NP_004614.3 "A143T,A264P,C110F,C110Y,K93E,L187F,R379W,R48G,S257N,S257R,S47T,V171M" "0,0,0,0,0,0,0,0,0,0,0,0" 7268 8851 sw1366;dbsnp13916 TM50A_HUMAN;NP_055128.1 "A58V,F141L,I114V,V99I,W16L,W37G" "0,0,0,0,0,0" 23585 13775 sw1367;dbsnp19233 SDPR_HUMAN;NP_004648.1 "C136W,E130D,E221G,H337D,H337Y,P209H,P209L,Q174E,Q83H,S398G" "0,0,0,0,0,0,0,0,0,0" 8436 8034 sw1368;dbsnp28785 CER1_HUMAN;NP_005445.1 "A65G,F167L,G72V,K178N,R19W,T245M,T44I,V179I,V179L" "0,0,0,0,0,0,0,0,0" 9350 11539 sw1370;dbsnp19671 M4K4_HUMAN;NP_001229488.1 "A614T,E822K,H759Q,R308H,S1043R,S1116G,S712T" "0,0,0,0,0,0,0" 9448 1222 sw1371;dbsnp17113 QORL1_HUMAN;NP_665857.2 "A39T,G279E,I220V,V259L" "0,0,0,0" 9946 9679 sw1372;dbsnp30399;hgmd0613_1169 AIFM1_HUMAN;NP_004199.1 "D515N,E92K,G308E,M242V,P35S,P545S" "0,0,1,0,0,0" 9131 4989 sw1373;dbsnp28690 CLIC3_HUMAN;NP_004660.2 "A228S,M210L,P235S,P38H" "0,0,0,0" 9022 8384 sw1375;sws146;spmut1101;dbsnp25386 LATS1_HUMAN;NP_004681.1 "A155T,A483T,D1126V,F641L,G1000S,I131V,K619R,P192L,P237Q,P266A,P531S,R370W,R896Q,R96W,S139I,S204G,S97G,V647I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9113 1627 sw1376;dbsnp9314 GLP2R_HUMAN;NP_004237.1 "A515T,D470N,E255A,G441A,H22L,L88F,M544V,P91A,P91T,R41S,R458H,R472W,R523H,R526Q,R74Q,S44Y,T287M,V230A,V234I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9340 5790 sw1377;dbsnp20448 GUC1C_HUMAN;NP_005450.3 "A119V,A13T,M159V,M85V,Q91L,V72I" "0,0,0,0,0,0" 9626 12763 sw1378;dbsnp25433 UCP4_HUMAN;NP_004268.3 I197T 0 9481 10314 sw1380;spmut1981;dbsnp16355 SNAI1_HUMAN;NP_005976.2 "A66V,G258S,R264C,V118A" "0,0,0,0" 6615 11596 sw1381;spmut735;dbsnp25205 G6B_HUMAN;NP_612116.1 "A21G,A52T,P178S,P62Q,R175G" "0,0,0,0,0" 80739 12094 sw1382;dbsnp25207 LY66C_HUMAN;NP_079537.1 "A3V,A75G,L63M,M57I,R103Q,R64C,R81C" "0,0,0,0,0,0,0" 80740 14324 sw1383;dbsnp24946 LY66D_HUMAN;NP_067069.2 "L9V,S11N,S11R,S34T,T63A" "0,0,0,0,0" 58530 14197 sw1384;sws147;dbsnp24810;dbsnp24811;dbsnp24812;dbsnp24813;dbsnp24814 GPAN1_HUMAN;NP_001186169.1;NP_001186168.1;NP_001186166.1;NP_149417.1;NP_001186167.1 "A112V,A235V,D56E,G266R,R336G,R3P,R41L,S210A,S241L" "0,0,0,0,0,0,0,0,0" 7918 9512 sw1385;dbsnp24765 CF047_HUMAN;NP_067007.3 "D94E,E161D,G68R,K92N,M20V,P24L,P29A,R151H,R212C,R263W,W274S" "0,0,0,0,0,0,0,0,0,0,0" 57827 10998 sw1386;dbsnp19122;hgmd0613_1776 FRITZ_HUMAN;NP_056994.3 "A445P,G268S,L205F,N688S,R55K,S708F,V329M,V439I" "0,0,0,0,1,1,0,0" 51057 3648 sw1388;dbsnp28608 TRUB2_HUMAN;NP_056494.1 "A99G,C82Y,G108S,K90Q,L133F,L323F,L65P,P43T,P79L,R131H,R199Q,R327M,T209S,V93L,V93M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26995 10107 sw1389;dbsnp326 SGT1_HUMAN;NP_009196.1 "D111Y,D399N,D504A,D540V,D576N,D634G,E157Q,E410K,E452Q,E475K,H298R,N192D,N501S,R281G,R357Q,R45Q,S154F,S376I,S584A,T9K,T9M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11319 4300 sw138;dbsnp6504 PGPIL_HUMAN;NP_001096082.2 "A142V,E169Q,E185Q,K178R,K60Q,L25P,M189T,R4W,V50I" "0,0,0,0,0,0,0,0,0" 145814 13049 sw1390;dbsnp17483 MOT3_HUMAN;NP_037488.2 "A257V,G474S,L163F,P129R,R235W,T106K,V405A" "0,0,0,0,0,0,0" 23539 6576 sw1391;dbsnp24569 OR2H2_HUMAN;NP_009091.3 "A48V,G150A,L274F,L30F,L30I,L30S,L30V,P127S,R170W,R232Q,S201T,S6Y,T220A,V172G,V38M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7932 9497 sw1392;dbsnp17756 TTLL1_HUMAN;NP_036395.1 "A295S,G249R,K275R,S168L,T29A,V110I" "0,0,0,0,0,0" 25809 8081 sw1393 EPPI_HUMAN "H92R,K128T" "0,0" 57119 13384 sw1394;dbsnp14928 SYF2_HUMAN;NP_056299.1 "A108T,A89V,D185G,H136R,I184V,R48H" "0,0,0,0,0,0" 25949 12049 sw1395;dbsnp16229;hgmd0613_2474 TGM3L_HUMAN;NP_945345.2 "A102T,A141E,A372T,A376T,D144N,D230N,D327G,D49V,E379K,E406K,F317L,G17D,G370S,G463S,G508D,G647S,G82A,I189N,I4M,L135H,L517W,M329T,M58V,M93V,N137H,N331S,R211C,R319Q,R342W,R368Q,R412H,R434H,R448W,R562T,R665S,S161G,S37L,T325I,T325R,V168M,V208M,V527E,V553M,V99I,W11G" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343641 4023 sw1396;dbsnp24304 TBX18_HUMAN;NP_001073977.1 "A415T,F554S,G48R,N368H,R349Q,R422H,T464P,V272I" "0,0,0,0,0,0,0,0" 9096 5050 sw1397;sws149;dbsnp20254 EOMES_HUMAN;NP_005433.2 "A120G,P477L,Q6E,R578Q,V610M" "0,0,0,0,0" 8320 4200 sw1398;dbsnp24761 NCTR2_HUMAN;NP_004819.2 "I218K,M223V" "0,0" 9436 11341 sw1399;dbsnp7971 TBX6_HUMAN;NP_004599.2 "G162S,P179S,R156L,S178F,W233C" "0,0,0,0,0" 6911 7835 sw13;dbsnp2504 TM223_HUMAN;NP_001073970.1 "H39R,P168H,T28A,V196G" "0,0,0,0" 79064 12911 sw1401;dbsnp4969 ITGBL_HUMAN;NP_004782.1 "A154S,A303V,E362V,G106D,G86R,P257L,P401L,R391T" "0,0,0,0,0,0,0,0" 9358 6756 sw1403;dbsnp1866 SG1D2_HUMAN;NP_006542.1 "A57V,C24R,K59N,P53L,V80A" "0,0,0,0,0" 10647 14751 sw1405;dbsnp13637 BY55_HUMAN;NP_008984.1 "G84R,I91V,L178F,Q101K,T38M" "0,0,0,0,0" 11126 13340 sw1407;dbsnp8011 IGSF6_HUMAN;NP_005840.2 "A128V,E188K,F173S,L184I,N186K,Q74R,R152W" "0,0,0,0,0,0,0" 10261 12095 sw1408;dbsnp11585 S1PR4_HUMAN;NP_003766.1 "A174T,A213T,E153K,G164S,G45S,R243C,R365L,V318M" "0,0,0,0,0,0,0,0" 8698 8909 sw1409;dbsnp28821 RECK_HUMAN;NP_066934.1 "A17T,A19T,A378P,D782N,F753I,K441R,K588N,L529V,M382I,P957S,V275I" "0,0,0,0,0,0,0,0,0,0,0" 8434 2231 sw1410;dbsnp17652 TOP3B_HUMAN;NP_003926.1 "D365N,D604G,E346Q,H382R,L439P,R290K,R377H,R379W,R472Q,T488M,T501M,V104G,V242L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8940 2816 sw1411;dbsnp5527 TCL1B_HUMAN;NP_004909.1 "A99V,E105K,G93R,L9P" "0,0,0,0" 9623 14275 sw1412;dbsnp20079;dbsnp20080 F107A_HUMAN;NP_009108.1;NP_001070246.1 "A89P,A89S,E141Q,I29N,I29T,L15M,P19L,R75W,V38A,V38E" "0,0,0,0,0,1,1,0,0,0" 11170 14027 sw1413;dbsnp1236 CH25H_HUMAN;NP_003947.1 "G89R,L133P,R272Q" "0,0,0" 9023 11434 sw1414;dbsnp7365 GAS8_HUMAN;NP_001472.1 "A270P,A391V,A460P,D263E,D281H,D419N,E199K,K11E,K13R,K74N,L394Q,M26V,M84L,Q358R,R259Q,R278H,R369H,R404C,R82Q,V159E,V93M,V97L,V97M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2622 7037 sw1415;sws150;dbsnp10822 APC2_HUMAN;NP_005874.1 "A1017G,A2024V,A2057T,A829V,A949T,F140S,G45A,P266T,Q1000K,R1456P,R429H,R487H,S2241A,T1227I,T2077S,T70M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10297 301 sw1416;dbsnp2174;dbsnp2176;dbsnp2177;dbsnp2178 I18BP_HUMAN;NP_001138529.1;NP_001034748.1;NP_766630.2;NP_001034749.1 "G117E,Q192H,R91H,S34L" "0,0,0,0" 10068 12983 sw1417;spmut206;dbsnp14028 BCL10_HUMAN;NP_003912.1 "C57R,D101E,G213E,K31E,K45Q,L174S,M153V,N93S,R58G,R58Q,R64K,S134P,S218F,T168A,T52I,V16E,V230I" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 8915 12271 sw1418;dbsnp26361 PPR17_HUMAN;NP_006649.2 "A70T,A70V,E147K,L10R,L12V" "0,0,0,0,0" 10842 13810 sw1419;dbsnp29870 CX001_HUMAN;NP_004700.1 "I53V,S36A" "0,0" 9142 14523 sw141;dbsnp6869 TM202_HUMAN;NP_001073931.1 "E5K,M204L,R182W,R23Q,R23W,R253G,R27T,T58M" "0,0,0,0,0,0,0,0" 338949 11407 sw142 WIPF3_HUMAN E321G 0 644150 6943 sw1420;dbsnp23267 MOC2B_HUMAN;NP_004522.1 "A99V,D35G,E168K,H123Y,M36I,N187S,P21R,S2A,T50A,T77A" "0,0,1,0,0,0,0,0,0,0" 4338 13203 sw1421;dbsnp10958 NAPSA_HUMAN;NP_004842.1 "A310T,G331A,G331E,I40T,L221I,L408V,M203V,P240L,R39K,S22A" "0,0,0,0,0,0,0,0,0,0" 9476 8147 sw1422;spmut1457;dbsnp12237;dbsnp12238;dbsnp12239 PAK4_HUMAN;NP_001014831.1;NP_005875.1;NP_001014832.1 "A139T,A573S,A573T,D103E,D316N,E565K,I406T,M524I,P108L,R135Q,R555G,S343L" "0,0,0,0,0,0,0,0,0,0,0,0" 10298 3887 sw1424;dbsnp11589 APBA3_HUMAN;NP_004877.1 "A189T,A79V,C376G,C376R,D53H,E130G,E185A,E265D,I527F,K276T,R235W,R358Q,R541H,S171Y,T178M,T557M,V206G,V270I,V422I,W154L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9546 5481 sw1425;spmut293;dbsnp27928 CCNE2_HUMAN;NP_477097.1 "E221A,N387S,V253L" "0,0,0" 9134 8503 sw1427;spmut893;dbsnp22978 HMHB1_HUMAN;NP_067005.1 H16Y 0 57824 14940 sw1428 CYB_HUMAN "A122T,A191T,A229T,A329T,A330T,A39T,A39V,A87P,D171N,F18L,F276L,G166E,G251D,G251S,G290D,G339E,G34S,I153T,I164V,I306T,I334V,I78T,I78V,I7T,L236I,M316T,N255H,N260D,N8S,R80H,S151P,S35P,T123A,T194A,T360A,T368I,V353M,V356M,Y278C" "0,0,0,0,0,0,0,0,1,0,1,0,1,0,0,1,1,0,0,0,0,0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,1,1" 4519 8972 sw143 ZSA5C_HUMAN "E197D,Q181R,Q24R,Q259K" "0,0,0,0" 649137 6679 sw1432;dbsnp28590 AL1A1_HUMAN;NP_000680.2 "A446D,A446T,D15Y,F152L,G125R,I177F,N121S" "0,0,0,0,0,0,0" 216 6337 sw1438 COX2_HUMAN "A148T,D11A,I30V,L123P,M29K,T187M,V142M" "0,0,0,0,1,0,1" 4513 12385 sw1439 COX3_HUMAN "A200T,F251L,F35S,G78S,H3R,Q177R,V254I,V91I" "1,1,0,1,0,0,0,0" 4514 11669 sw1448;dbsnp7311 AATM_HUMAN;NP_002071.2 "A2S,A89S,D154N,D197N,E111D,G188S,K364E,Q357E,R222H,R393Q,R53W,V346G,V428A,V76I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2806 7942 sw144;dbsnp30361 DC8L1_HUMAN;NP_001017930.1 "A257V,G215S,G591V,G9S,I143V,K529R,L158V,L81F,M107I,M342V,R152Q,R162H,R549W,R55K,T33K,T33M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139425 4794 sw1451;sws154;dbsnp27891 MOS_HUMAN;NP_005363.1 "A105S,I55V,Q318H,R96L,S300P" "0,0,0,0,0" 4342 9761 sw1454;dbsnp3710 LALBA_HUMAN;NP_002280.1 "I46V,I60V,S66N,T67M" "0,0,0,0" 3906 14046 sw1456 C1R_HUMAN "E184K,G261R,H163Y,S152L,T186R,Y131H" "0,0,0,0,0,0" 715 4035 sw1458;dbsnp7299 HPTR_HUMAN;NP_066275.3 "A156V,A314T,A314V,H339D,N42H,Q196H,R203K,R58K,R58T,R60H,T235N,T27M,V283A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3250 8455 sw145;dbsnp5070 URAD_HUMAN;NP_001099047.1 "Q57P,R114S" "0,0" 646625 13482 sw1461;dbsnp11335 CFAD_HUMAN;NP_001919.2 "C214R,I248M,R137C,R6H,V213G" "1,0,0,0,1" 1675 11837 sw1464;dbsnp278 UROK_HUMAN;NP_002649.1 "D325N,E354D,G58R,H149Y,H273Y,I214M,I236V,K231Q,K55E,P141L,R201W,R282H,V15L,Y350H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5328 7921 sw1469 ATP6_HUMAN "A11T,A155T,A177T,A7T,A80T,F117L,F193L,G16S,H61Y,H90Y,I121V,I14V,I192T,I192V,I204T,L156P,L156R,L217P,L37P,M60T,S182L,S219G,T112A,T133A,T178A,T33S,T53I,T59A,V213I" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0" 4508 12408 sw146;dbsnp18365;hgmd0613_583 CB071_HUMAN;NP_001025054.1 "A1160T,A252D,A628T,A648P,A648T,A715T,A959T,C335W,C688Y,C758Y,D372N,E1132A,E227K,E378K,G1247S,I201F,K421R,L612P,L792V,P1254L,P867L,P954S,Q1020K,Q1020R,R1177Q,R258I,R320C,R528C,R955Q,S13C,S312N,T580M,V247A,V247I,V615D" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 388939 1184 sw1473;dbsnp3445 OAS1_HUMAN;NP_058132.2 "A352P,A352S,A352T,C269Y,D179Y,D354G,D75A,E183D,G127R,G162S,L327P,N307I,N31D,P129R,P228S,P330S,Q91E,R104G,R242Q,R361T,T69I,V297G,V55M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4938 1764 sw1479 A2MG_HUMAN "I1000V,N639D,R704H" "0,0,0" 2 856 sw147;dbsnp24355 OOEP_HUMAN;NP_001073976.1 "A18T,R37W,V92A" "0,0,0" 441161 13932 sw1484;dbsnp16215 CYTN_HUMAN;NP_001889.2 "D61V,G79A,K135N,L12M,L39F,L39I,L39V,N129D,N40S,P31L,Q109K,R131M,S22R,S6C,Y4H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1469 13991 sw1486;dbsnp20008 KNG1_HUMAN;NP_001095886.1 "D430E,G163S,G642A,I197M,I581T,L212P,M178T,R196Q,T400K,V265M" "0,0,0,0,0,0,0,0,0,0" 3827 4649 sw148;dbsnp27711 CH073_HUMAN;NP_001094348.1 "A113T,A118V,A227V,A619T,H97Q,N213T,R278C,S348R,S582G,T134I,V132A" "0,0,0,0,0,0,0,0,0,0,0" 642475 3879 sw1493;dbsnp21920;hgmd0613_857 EGF_HUMAN;NP_001954.2 "A1025S,A1084G,C1146S,D186H,D257H,D472E,D784V,D981E,E892K,E920V,G1177A,G366D,G575R,G723R,H151Y,I597V,L1043F,L292H,L631F,M708I,M842T,P1070L,P456Q,R221T,R431K,R845Q,S155N,S16R,S638R,T1174N,T40A,V1035M,V1040M,V605I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 1950 1401 sw1497;dbsnp27328 GON1_HUMAN;NP_001076580.1 "E47D,K91M,W16S" "0,0,0" 2796 14741 sw149;dbsnp20288 FRG2C_HUMAN;NP_001118231.1 "A196T,A259T,A277V,A47T,C12R,D109Y,D252E,D9N,E166G,G280R,G42R,G84R,I106S,L203M,L210M,N120S,P261S,Q93R,R156C,R159Q,R161K,S149R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100288801 11228 sw14;dbsnp18001 DAPL1_HUMAN;NP_001017920.2 "A66T,A81V,D61N,L60P" "0,0,0,0" 92196 14560 sw1501;dbsnp27861;dbsnp27862 PENK_HUMAN;NP_001129162.1;NP_006202.1 "D155N,E124Q,G247D,G262R,M190V,R216K,R99G,S196R,T83N" "0,0,0,0,0,0,0,0,0" 5179 11540 sw1502;dbsnp16698;dbsnp16699;dbsnp16700;dbsnp16701;dbsnp16702;hgmd0613_2065 PDYN_HUMAN;NP_001177821.1;NP_001177827.1;NP_001177829.1;NP_001177828.1;NP_077722.1 "D135E,E192V,G159D,G36C,L122P,L211S,M146L,M14V,N41D,R138S,R212Q,R212W,R215C,R231Q,T238A" "0,0,0,0,0,1,0,0,0,1,0,1,1,0,0" 5173 11816 sw1508;dbsnp9761 SOM2_HUMAN;NP_002050.1 "A26T,A3P,A3T,F202L,L118F,R103H,R204C,R204H,R90W" "0,0,0,0,0,0,0,0,0" 2689 11791 sw1509;dbsnp10075 CSH_HUMAN;NP_001308.1 "M205I,P3A,R204C,T149M" "0,0,0,0" 1442 11791 sw151 U93BL_HUMAN G192R 0 - 5172 sw1510 CALC_HUMAN N57D 0 796 14069 sw1515;dbsnp9272 PAHO_HUMAN;NP_002713.1 "E78G,M59T,P63L,R5C,T73M" "0,0,0,0,0" 5539 14717 sw1524;dbsnp28509 IFN10_HUMAN;NP_002162.1 "A169T,D118E,D189N,G33R,G42A,H57Y,I61F,L112I,L32F,L38F,N69H,R173S,R60G,S31T,V11M,V166I,W164C,Y146S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3446 13072 sw1525;dbsnp28795 IFN21_HUMAN;NP_002166.2 "A42G,K179E,L104P,L119M,L177F,N113Y,Q102K,Q114H,V127D" "0,0,0,0,0,0,0,0,0" 3452 13072 sw1526;dbsnp28902 IFN17_HUMAN;NP_067091.1 "A42G,D67N,G33R,G45R,I184R,L175F,M129I,N118D,N69H,P49H,Q70R,S31T,T74A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3451 13072 sw1529;dbsnp18035 IL1A_HUMAN;NP_000566.3 "A114S,D138N,D176H,G46A,G78R,I180N,I25T,N125D,Q90K,R85Q,S87T" "0,0,0,0,0,0,0,0,0,0,0" 3552 11452 sw152;dbsnp14154 OR2T8_HUMAN;NP_001005522.1 "A221S,A231G,A253G,C146S,D269N,E2V,G168S,G39S,H51R,H51Y,I99F,K296N,K88N,M197R,M1T,M204I,M27L,R305W,R311H,S31G,S31T,S41A,S62N,S87N,T104S,T179A,T19S,T277S,T55R,V29L,V69M,W49R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343172 9213 sw1535;dbsnp12969 PIGR_HUMAN;NP_002635.2 "A472T,A580V,E511K,G365S,S380G,S490L,T555I,V283I,V346I,V369M,V656L,V74I" "0,0,0,0,0,0,0,0,0,0,0,0" 5284 3484 sw1536 IGKC_HUMAN "V83L,W40R" "0,1" 3514 14572 sw1537 IGHE_HUMAN "W359L,W43C" "0,0" 3497 7980 sw1539 IGHG2_HUMAN S60A 0 3501 9033 sw153;dbsnp2404 O4C46_HUMAN;NP_001004703.1 "A108V,A199T,A234V,A89P,A89T,C221F,C238R,C252Y,D304N,D68A,D68V,E2G,F10L,F248L,G106R,G144R,G149V,G54W,H120N,H120R,H129N,H129Y,I80T,K288R,L185I,L211F,L235H,M131V,P278L,S240F,S60F,T46P,V250L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119749 9203 sw1540 IGHG3_HUMAN "F366Y,P221L,S314N,T269A,Y226F" "0,0,0,0,0" 3502 9033 sw1541 IGHM_HUMAN "G191S,V215G" "0,0" 3507 7548 sw1542 IGHA1_HUMAN E176D 0 3493 9582 sw1543 IGHA2_HUMAN "D296E,F279Y,P102R,P93S,V326I,V335A" "0,0,0,0,0,0" 3494 9582 sw1545 1A68_HUMAN "H175L,R138E,R138H,V36M" "0,0,0,0" 3105 7735 sw1548;dbsnp24664 DQA2_HUMAN;NP_064440.1 "A11T,A183D,A222T,D184E,E198K,E214V,E56K,E66K,F121S,F179L,F238L,G157S,G247D,I186S,I239M,I78R,L254P,L8M,M230V,M73L,N110D,Q102H,Q241R,R244H,R87T,S153A,S84C,S84I,T130I,T49S,T64M,T64R,V227A,Y48F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3118 11700 sw1549 DQA1_HUMAN "A11T,A182D,A182S,A209T,A221T,C70K,C70Q,C70R,C70Y,D25G,E183D,E24K,F237L,F77L,F83G,G230C,G63E,H151Q,I129T,I88M,K197E,K197Q,L124V,L178F,L71W,L74F,L91A,L91T,L91V,L98M,L98V,M18T,M8L,P44L,P81R,Q57E,Q76K,Q76R,R101C,R240Q,R64K,R75H,R75S,R78S,S102Y,S152A,S161I,S161R,S185I,S41F,S97I,T160I,T49S,T67A,T86R,V17M,V229M,V68A,V73D,V73E,V73L,Y175H,Y34C,Y48F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3117 11700 sw154;dbsnp20605 O5H14_HUMAN;NP_001005514.1 "A237T,A299V,C179W,F238L,F301L,G152R,G64R,I173T,I99L,K98E,L101F,L147F,L63F,M234I,M59V,N294K,N65D,R143W,T10I,T137A,V199I,Y149C,Y189C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403273 10270 sw1550;dbsnp24413 2B1F_HUMAN;NP_002115.2 "A100P,A100S,A100T,A102G,A103P,A103T,A14G,A14V,A169T,A87D,A87G,A87V,C11S,D57E,D57H,D57Y,D86A,D86E,D86G,D86N,D86V,E216Q,E43K,F264I,F264L,F264V,F55L,F55Y,F60I,F60V,G154A,G164D,G164S,G164V,G197A,G197E,H110Y,H141Q,H45Y,I248L,I96F,K41M,K41R,K41T,K5R,L162Q,L162R,L28F,L6F,M12L,M171V,M20T,N62H,P25R,P40A,P40H,P40L,P40R,P40S,P40T,Q125E,Q165H,Q260P,Q39E,Q39H,Q39L,Q99E,Q99H,Q99R,R195Q,R218S,R220W,R33Q,R42G,R42K,R42M,R42T,R42W,R54L,R54Q,S117R,S133L,S149N,S173A,S173T,S196N,S211G,S211R,S29A,S66A,S66F,S66P,S66T,S66Y,T106N,T13A,T262R,T80M,T80R,V114A,V115E,V115G,V124I,V204L,V209L,V209M,V236M,V67A,V67L,W38G,W38R,Y107D,Y107F,Y107H,Y152C,Y59C,Y59D,Y59F,Y59H,Y61D,Y61H,Y89H,Y89N,Y89S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3123 11408 sw1552 DQB1_HUMAN "A15V,A81V,E106A,E106S,E118A,E118G,F43L,I235V,L117V,N94K,R165Q,R165W,R55L,S95R,T121G,T122I,V202I,V218A,V59L,V78E,Y79F,Y92N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3119 11408 sw1555 CO1A1_HUMAN "E288V,G1019A,G1043S,G389C,G404C,K1430N,N855H,P1438R,P1460H,P146T,P823A,R1141Q,R1356H,S1251T,T1075A,T1431P,T1434S,V1177I" "1,0,1,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0" 1277 826 sw1557;sws161 CO3A1_HUMAN "A679T,A698T,G1164S,G303R,G519V,G534E,G984T,H1353Q,P635L" "0,0,1,1,1,0,1,0,0" 1281 826 sw155;dbsnp745 TBAL3_HUMAN;NP_079079.1 "A280T,A340T,A407S,A407T,E393K,G102R,G166A,G88S,I16T,K333R,M384V,P270L,P332S,P366L,Q135H,Q240R,R112Q,R114H,R222C,R250W,R380W,R91P,V242I,V35I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79861 7568 sw1561 K1C14_HUMAN "C63Y,E215K" "0,0" 3861 6208 sw156;dbsnp20592 OTOL1_HUMAN;NP_001073909.1 "E470A,K324R,P175T,P94A,R279H" "0,0,0,0,0" 131149 7056 sw1570;dbsnp21694 FIBA_HUMAN;NP_000499.1 "A762V,E729Q,K446E,R160S,S66T,T331A" "0,0,0,0,0,0" 2243 2792 sw1573;dbsnp18442 ACHA_HUMAN;NP_001034612.1 R86C 0 1134 6962 sw1574;spmut774 GLPA_HUMAN "A84P,D46E,E76K,G24D,G24E,G78R,P73S,Q82K,S20L,S66Y,T23N" "0,0,0,0,0,0,0,0,0,0,0" 2993 13915 sw1576;sws163;dbsnp14430 SAMP_HUMAN;NP_001630.1 "E155G,P4S,R32G,S158G,S9A" "0,0,0,0,0" 325 12450 sw1577;dbsnp14818;hgmd0613_1782 C1QA_HUMAN;NP_057075.1 "E23K,M126V,P4R,R27Q" "0,0,0,0" 712 12003 sw157;dbsnp10305;hgmd0613_1743 SMHD1_HUMAN;NP_056110.2 "I1260V,I960V,K1470E,K2002T,K879N,N1291S,R1370H,T16S,V678D,V708I" "0,0,0,0,0,0,0,0,0,0" 23347 421 sw1582;dbsnp11036 A2GL_HUMAN;NP_443204.1 "E197K,F136L,G162R,G64S,L248P,N270I,P133S,P234L,R216W,R250S,R260W,R291Q,R291W,R328H,R8Q,S5R,V120M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116844 9730 sw1583;sws165 FINC_HUMAN "I1960V,S1467R,T817P,V2170I" "0,0,0,0" 2335 250 sw1585 A1AG1_HUMAN "Q38R,R167C,V174M" "0,0,0" 5004 12935 sw1586 FETUA_HUMAN "D276N,R317C,T248M,T256S,V142L" "0,0,0,0,0" 197 9252 sw1589;dbsnp21698 FETA_HUMAN;NP_001125.1 "A570G,D536V,F50Y,G109R,G608R,K187Q,L258V,N160I,P524L,T253S,T294I,T451I,T547M,V590I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 174 5027 sw158;dbsnp19179 MSGN1_HUMAN;NP_001099039.1 "E80D,H104Y" "0,0" 343930 13119 sw1590 VTDB_HUMAN "D432E,K436T" "0,0" 2638 6798 sw1592 TRFE_HUMAN "G142S,G671E,H319R,I448V,K646E,P589S,T645P,W377C" "0,0,0,0,0,0,0,0" 7018 3966 sw1594;dbsnp1323 HEMO_HUMAN;NP_000604.1 "A420T,A7T,D52N,G175A,H238R,R180G,R371W,R378W,R379W,R83W,T174M,T40A" "0,0,0,0,0,0,0,0,0,0,0,0" 3263 7359 sw1596;dbsnp8458 MT2_HUMAN;NP_005944.1 "A42V,A53V" "0,0" 4502 14888 sw1597 PRPC_HUMAN "D20N,D66N,I42L,Q163K,R119C" "0,0,0,0,0" 5555 8251 sw1598 PRB2_HUMAN "Q233R,S274P" "0,0" 653247 8251 sw1599;dbsnp14933 OSTCN_HUMAN;NP_954642.1 "C16R,E82K,G27S,R94Q" "0,0,0,0" 632 14644 sw159;dbsnp23000 CCD69_HUMAN;NP_056436.2 "E203Q,G35A,H227R,L108P,L119I,L246V,P13T,Q77R,R109W,R124Q,R197K,R197M,R197T,R198W,R258W,R55Q,T247M,V272I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26112 10950 sw15;dbsnp18117 CIB4_HUMAN;NP_001025052.1 "H146Y,H181R,K101N,R128L,R69C" "0,0,0,0,0" 130106 13259 sw1601 NU1M_HUMAN "A4T,A52T,L285P,L288P,M31T,M31V,S205P,T168A,T87A,Y255C,Y277C,Y304H,Y30C,Y30H" "0,1,1,0,1,1,0,0,0,0,0,1,1,1" 4535 10434 sw1602 NU2M_HUMAN "A265T,A265V,A331S,A331T,F325L,G259S,I159T,I278T,I57T,I69V,L237M,N150D,N150S,N88S,P42L,Q63R,S148P,T119A,T185A,T333A,V43I" "0,0,1,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 4536 9731 sw1603 NU3M_HUMAN "A47T,M53V,N10D,S34P,S45P,T114A" "1,0,0,1,1,0" 4537 14467 sw1604 NU4LM_HUMAN "C32R,I61T,M36I,N57S,V65A" "1,0,0,0,1" 4539 14678 sw1606 NU5M_HUMAN "A160V,A171V,A236T,A458T,A475T,D393N,D503G,E145G,F124L,F304S,F95S,G146D,G465E,I257V,M237L,M314V,N165S,N447S,P17S,S250C,S99P,T211P,T331A,V253A" "0,1,1,1,0,1,0,1,1,0,0,0,1,0,0,0,0,1,0,1,0,0,0,1" 4540 5097 sw1608 ATP8_HUMAN "F21S,L17P,M28T" "0,0,0" 4509 14885 sw160;dbsnp3976 O6C70_HUMAN;NP_001005499.1 "D311E,I103V,K233N,L181P,M243K,P157L,R129C,R129H,T73A" "0,0,0,0,0,0,0,0,0" 390327 10547 sw1611 KLKB1_HUMAN N143S 1 3818 4712 sw1613 MIS_HUMAN "Q185E,V515A" "0,0" 268 5676 sw161;dbsnp3583 S15A5_HUMAN;NP_001164269.1 "A178T,A349T,A363P,A443V,A515E,A515V,D10N,D342N,D494E,E508K,E53D,H141Q,L574F,M324L,P271L,R252L,S397P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 729025 5423 sw1620;dbsnp22861 HMDH_HUMAN;NP_000850.1 "I638V,P277L,R159H" "0,0,0" 3156 2670 sw1622;dbsnp557 TDT_HUMAN;NP_004079.3 "A90V,D280H,E307D,H465Y,P140L,P16S,R112G,R431C,V37I" "0,0,0,0,0,0,0,0,0" 1791 6479 sw162;dbsnp20991 LRIQ4_HUMAN;NP_001073929.1 "A228T,E402D,E452G,E461K,K159E,P554S,Q35E,S242P,S94N,V114I" "0,0,0,0,0,0,0,0,0,0" 344657 5677 sw1630;sws168;spmut116 APOB_HUMAN "A3121T,D3319H,F3949L,I2313V,I3835L,K273N,L2092V,L2680Q,P877L,Q1218E,T3427K,V733I,Y1422C,Y3964F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338 50 sw1631;dbsnp24862 COL_HUMAN;NP_001823.1 "L8P,R109C,R22Q,R55H,T70M,V93M" "0,0,0,0,0,0" 1208 14513 sw1632;dbsnp22928 CSF2_HUMAN;NP_000749.2 "I117T,R84Q,T115I" "0,0,0" 1437 14028 sw1634;sws169;spmut2141;dbsnp17130 TFF1_HUMAN;NP_003216.1 "A11T,E25K,I74N,M17I,T22I" "0,0,0,0,0" 7031 14804 sw163;dbsnp2349 MET15_HUMAN;NP_001107000.1 "A149P,A149S,A149T,A207T,A69T,G227R,I267F,M338L,N31K,R289C,R397H,S277T,T278S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 196074 8434 sw164 SWAHD_HUMAN T254A 0 347454 10521 sw1641;dbsnp11021 A1BG_HUMAN;NP_570602.2 "A170V,A357T,C374R,E481D,H395R,H52R,L53P,R140Q,R90C,T278P,T48M" "0,0,0,0,0,0,0,0,0,0,0" 1 6740 sw1644;dbsnp3137 CD3D_HUMAN;NP_000723.1 "N38K,Q147R,Q18K" "0,0,0" 915 13524 sw1647;sws170;spmut2364 VWF_HUMAN "N857D,Q852R,V1318L" "0,0,1" 7450 172 sw1649;dbsnp16247 SEMG1_HUMAN;NP_002998.1 "A73V,D456N,E338Q,E58G,G101D,G189R,G400D,H108R,H359Q,I155L,K120E,K423N,L100Q,N109Y,Q327R,R356K,R357Q,R372L,R447H,R457Q,S232R,S312R,S79T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6406 5377 sw1650;dbsnp11096;hgmd0613_1457 TBB4A_HUMAN;NP_006078.2 "A365V,I155M" "0,0" 10382 7569 sw1651;dbsnp3493 G3P_HUMAN;NP_002037.2 "A22G,D39Y,I146V,K251N,M328I,T99I" "0,0,0,0,0,0" 2597 8423 sw1654;dbsnp24276 DPB1_HUMAN;NP_002112.3 "A31L,A46P,A46T,A65V,A84D,A84E,A84V,A85E,C144Y,C44G,D196H,D68Y,D93H,E62Q,E79Q,E79V,E86D,E86V,E97Q,F38D,F38H,F38L,F38V,F38Y,F64L,F64Y,F74Y,G113D,G113N,G113V,G114E,G152D,G40L,G40V,G72W,I244N,I244T,I94F,I94L,I94N,K98E,K98Q,K98R,L136M,L136V,L207M,L37V,M105I,M105V,M116V,N89H,P102L,P115A,P33A,R120H,R125K,R223L,R223P,R223Q,R30P,R41L,R61P,R82L,R99W,T16M,T199I,T24I,T32P,T78R,V101L,V186E,V234M,W158C,Y57D,Y87H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3115 11408 sw1657;dbsnp12045;dbsnp12046 CPNS1_HUMAN;NP_001003962.1;NP_001740.1 "M224V,R216H" "0,0" 826 11517 sw165;dbsnp20777 ARGFX_HUMAN;NP_001012677.1 "N188S,P12S,R145Q,R82C,T161I,T196I" "0,0,0,0,0,0" 503582 10522 sw1661;dbsnp6459 CP1A1_HUMAN;NP_000490.1 "A132P,A463G,A62P,D101N,D440N,F381L,F470V,G45D,I286T,I448N,I462F,I462L,I462V,I78T,M331I,M66V,P238S,P492R,R135W,R241C,R279G,R279W,R464C,R464S,R477G,R477W,R511H,R511L,R93Q,R93W,S216C,T173R,T461N,T81I,V482M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1543 6385 sw1662;dbsnp29248 REL1_HUMAN;NP_008842.1 "A182D,D142E,D30E,K28M,L6F,L88F,P68Q,R3L,S20F,S58R" "0,0,0,0,0,0,0,0,0,0" 6013 13258 sw1664;dbsnp16446 RPN2_HUMAN;NP_002942.2 "D281N,E351K,E532K,G374D,G99R,L597F,S254N,S512L,S59G,T443S,V162I,V34M,V458L,V458M,V501L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6185 4784 sw1665;dbsnp26192;dbsnp26195 B3A2_HUMAN;NP_001186621.1;NP_003031.3 "A459V,A972V,D159E,E202V,E587K,G26E,G456D,H1140Y,I1133T,K975N,L1204F,P102L,P1081L,R107Q,R311Q,R311W,R642W,R677Q,S151L,S208T,S780L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6522 1255 sw1667;dbsnp28629 IFNW1_HUMAN;NP_002168.1 "A140V,G20R,M83V,N101D,R95S,S137N,S78Y,T103I,W164R" "0,0,0,0,0,0,0,0,0" 3467 13072 sw1668;dbsnp28510 IFNA4_HUMAN;NP_066546.1 "A169G,A169V,A74T,C162S,C24W,E137V,E63K,G128E,G45R,G68S,H49P,H57N,L112I,R35G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3441 13072 sw1669;dbsnp3259 IGF1_HUMAN;NP_001104755.1 A187D 0 3479 13073 sw166;dbsnp10922 ZSA5B_HUMAN;NP_001073925.2 "D85N,E54G,H173R,H333L,M412L,P187S,S236T,S304T,S8L,V208I,V249G" "0,0,0,0,0,0,0,0,0,0,0" 342933 6679 sw1671;dbsnp16066 SCG1_HUMAN;NP_001810.2 "A197T,A353G,D145N,D67Y,E267G,H230R,K117N,K504E,N200H,N25S,P413L,R133L,R178Q,R232Q,R258Q,R417H,R500K,S93T,T116A,T243A,V351I,W381L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1114 4295 sw167;dbsnp18493 CB070_HUMAN;NP_001098989.1 "E171K,G130S,G68S,P78A,Q177L,Q66H" "0,0,0,0,0,0" 339778 12933 sw1683;dbsnp10262;dbsnp10263 PAI2_HUMAN;NP_002566.1;NP_001137290.1 "A251G,A370V,A371T,G218A,G374A,G80E,I246M,M359T,N120D,N404K,Q84H,R229H,S171T,S413C,T373S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5055 8274 sw1686;dbsnp29590 ADT2_HUMAN;NP_001143.2 "A198T,D104N,G73S,I79F,K296N,L111F,L111R,N77T,R236P,T221S" "0,0,0,0,0,0,0,0,0,0" 292 10542 sw1687;spmut982;dbsnp5401 IPSP_HUMAN;NP_000615.3 "A55V,A59T,E228Q,G217R,G94V,I342V,K105E,L115P,M275I,N119S,N173S,P121A,R21C,R405C,S227L,S311F,S44G,S64N,S75N,T180M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5104 8457 sw1689 CFAI_HUMAN "G243D,T300A" "1,0" 3426 5359 sw168;dbsnp4036 O6C65_HUMAN;NP_001005518.1 "I11L,L13Q,L220F,N40I,T222A,T88K" "0,0,0,0,0,0" 403282 10547 sw1691;dbsnp12814 ISG15_HUMAN;NP_005092.1 "G158S,H48Y,R164P,R44H,S21N,S83N,S83T" "0,0,0,0,0,0,0" 9636 13618 sw1692;sws175;dbsnp17500 LEG2_HUMAN;NP_006489.1 "A25P,G62S,L35P,P14L,R70W,T87I,V119I" "0,0,0,0,0,0,0" 3957 14213 sw1696 CP1A2_HUMAN "C406Y,D348N,E168Q,F186L,P42R,R377Q,R456H,S212C" "0,0,0,0,0,0,0,0" 1544 6385 sw1697;dbsnp555 CP2E1_HUMAN;NP_000764.1 "A175T,G173S,G288S,H457L,N219D,N418S,N52S,R186C,R484H,R492H,R76H,S366C,S424G,T373A,V179I,V389I,V389L,V396L,V464I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1571 6783 sw169;dbsnp11169;dbsnp11170 ZN233_HUMAN;NP_861421.2;NP_001193934.1 "C198Y,C375G,E92K,H530R,I473V,K531T,L44R,L44V,L662M,N238D,S168I,S247P,S350N,T113A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 353355 2540 sw16;dbsnp16330 CT118_HUMAN;NP_542195.1 "E26K,E98D,F139V,G102R,S187R,T50A" "0,0,0,0,0,0" 140711 12628 sw1700 HMGN2_HUMAN E7K 0 3151 14250 sw1705;spmut1013 JUN_HUMAN T297M 0 3725 9733 sw1707;dbsnp19938 TETN_HUMAN;NP_003269.2 "A55S,G106S,V58M" "0,0,0" 7123 12914 sw1708;dbsnp18975 LA_HUMAN;NP_003133.1 "D220A,E219D,E247G,E247V,L217S,P48S" "0,0,0,0,0,0" 6741 8424 sw1709 1A24_HUMAN "A5G,H27Q,T206A" "0,0,0" 3105 7735 sw170;dbsnp2123 RASFA_HUMAN;NP_001073990.2 "A316T,C463S,P290T,Q194H,W422R" "0,0,0,0,0" 644943 6524 sw1717 GLPB_HUMAN "P58R,R54H,S84T,T22S" "0,0,0,0" 2994 13915 sw1718;dbsnp13686 CD1A_HUMAN;NP_001754.2 "A270T,C68W,E79K,G240D,K22N,R185H,R263C,R324C,R90C,R93Q,T30I,V233M,Y293H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 909 8827 sw1719;dbsnp1503 CD5_HUMAN;NP_055022.2 "A377T,A471V,E352K,H461R,H461Y,K255N,K407N,L12V,P146L,P224L,R25Q,R338W,R410C,T434M,V363G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 921 6741 sw1721;dbsnp22291 UD2B4_HUMAN;NP_066962.2 "C511R,D340Y,D458E,F109L,F396L,G341E,I226L,K40N,N133S,P78T,R459G,S80P,T41S,V277I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7363 6125 sw1724;sws179;pmd2627.2;pmd4036.1 FYN_HUMAN "D506E,I445F" "0,0" 2534 5941 sw1727;spmut288;dbsnp20560;dbsnp20561 CCKN_HUMAN;NP_001167609.1;NP_000720.1 "G32E,R95W" "0,0" 885 14468 sw1728;dbsnp25209 DOA_HUMAN;NP_002110.1 "D214N,F139L,G231V,G6R,L99V,P141L,R105C,R79H,V180M,V237I" "0,0,0,0,0,0,0,0,0,0" 3111 11700 sw172;dbsnp13206 PCX2_HUMAN;NP_055616.3 "A1076E,A2015V,A2091V,A57V,A845V,G2111R,G599S,H1214Q,N2065S,P54R,Q770H,R117K,R1450Q,R1984Q,S1901N,T454A,V2067M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80003 363 sw173 FCGRC_HUMAN "H175R,K171M,P105L,T115M" "0,0,0,0" - 9109 sw1732;dbsnp4145 ATPB_HUMAN;NP_001677.2 "D76V,E274Q,G315V,I134V,I251T,K522N,N257S,Q493H,R62H" "0,0,0,0,0,0,0,0,0" 506 6145 sw1734;spmut1850;dbsnp13297 S10A9_HUMAN;NP_002956.1 "E96K,H20R,R10C,R42Q" "0,0,0,0" 6280 14485 sw1735;dbsnp13575 S10A6_HUMAN;NP_055439.1 "A2T,C3R,E36K,E36Q,G90D,H27R,I83T,K64E,N69S" "0,0,0,0,0,0,0,0,0" 6277 14752 sw1736 APOA4_HUMAN "E185K,E44K,K187E,N147S,Q380H,R279K,R305C" "0,0,0,0,0,0,0" 337 8653 sw1738;spmut332;dbsnp10775 CEAM5_HUMAN;NP_004354.2 "A301V,A340D,A342T,A46T,A566T,D517V,D588N,E132D,E283Q,G678R,H123Q,I100T,I112V,I113T,I80V,K398E,N219S,N44T,P103S,P186Q,P265L,Q137P,R581C,R581H,R664S,R77H,S106C,S421F,S614P,T41M,V273I,V335M,V83A,Y95N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1048 4058 sw1740;spmut597;dbsnp13629 ENOA_HUMAN;NP_001419.1 "D245E,G243S,I242V,N177K,N363S,P325Q,V118I,V124I,V124L" "0,0,0,0,0,0,0,0,0" 2023 7873 sw1746 ITAV_HUMAN V783I 0 3685 1905 sw1749;dbsnp10734 KLK1_HUMAN;NP_002248.1 "E145Q,I25T,K186E,K252M,L42V,R77H,V190I,V193E" "0,0,0,0,0,0,0,0" 3816 11641 sw174;dbsnp6594 SH2D7_HUMAN;NP_001094874.1 "M137T,R206W,R253W" "0,0,0" 646892 7571 sw175 SAC31_HUMAN "L155R,L186P,T8P" "0,0,0" 29901 8501 sw1751;sws182;dbsnp18715 GDN_HUMAN;NP_006207.1 "D211N,I51M,M64T" "0,0,0" 5270 8413 sw1754;dbsnp1295 TY3H_HUMAN;NP_954986.2 "V112M,V499M" "0,0" 7054 6166 sw1758;dbsnp27936 NFL_HUMAN;NP_006149.2 "A498T,D468N,E396K,E7K,E90K,K540N,L336P,N98S,P22S,P8L,P8Q,P8R,Q332P,Q334E,T444P" "0,0,1,1,1,0,1,1,1,1,1,1,1,0,0" 4747 5940 sw1761;dbsnp20089 GPX1_HUMAN;NP_000572.2 "A194T,E165D,P200L,R5P" "0,0,0,0" 2876 12896 sw1764;dbsnp11249 KLK3_HUMAN;NP_001639.1 "D102N,E32K,G87R,I179T,L132I,R125C,R24Q,R24W,R77Q,R77W,S210W,T256I" "0,0,0,0,0,0,0,0,0,0,0,0" 354 11641 sw1766;dbsnp18099 CRGB_HUMAN;NP_005201.2 "E8K,G61R,I111L,R143K,R59W,R60H,R90T,S73I" "0,0,0,0,0,0,0,0" 1419 13387 sw176;dbsnp28804 ARI3C_HUMAN;NP_001017363.1 "A391D,C335G,D218E,R310Q,R385H,S269F" "0,0,0,0,0,0" 138715 8330 sw1772;dbsnp13074 CO8A_HUMAN;NP_000553.1 "A36E,D129N,D458N,E138K,E320D,E561Q,G554D,I441V,K68E,P34S,P475R,P575L,P575S,Q530L,Q65K,Q93K,R107C,R444H,R485H,R485L,R61W,T179M,T407I,Y173F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 731 5347 sw1773 CO8B_HUMAN "E108K,P261L,R117G" "0,0,0" 732 5255 sw1775;dbsnp28383 CO8G_HUMAN;NP_000597.2 "D118G,H124N,P23A,R142W,R69Q,V196I,Y181H" "0,0,0,0,0,0,0" 733 12915 sw1776;dbsnp2329;dbsnp2330;dbsnp2331 CAN1_HUMAN;NP_005177.2;NP_001185797.1;NP_001185798.1 "G492R,R433P,R591H,R599C,R616C,T103A,V676I" "0,0,0,0,0,0,0" 823 3710 sw1778;dbsnp13592 INVO_HUMAN;NP_005538.2 "E167Q,E180K,E217Q,E227Q,E410K,E76K,G518R,H175L,H268Q,K174E,K404E,L163V,L166P,L450M,L472F,M1T,P236S,Q159E,Q179E,Q237E,Q248R,Q312K,Q505E,Q505L,Q505R,T113A,V480L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3713 5330 sw177;dbsnp5906 RTL1_HUMAN;NP_001128360.1 "A852T,A920G,D564H,D895G,E848Q,I542T,M13R,P51L,P558T,R1108Q,R1114W,R1215H,R365T,T1147I,T139A,V503I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388015 1052 sw1782;dbsnp21788 CASK_HUMAN;NP_005203.2 "A145T,E163G,L113P,P56T,Q25E,R110L,R96Q,R96W,T178A,T79I,V140I,Y75C" "0,0,0,0,0,0,0,0,0,0,0,0" 1448 13324 sw1784;spmut56 ADRB2_HUMAN "E27Q,G16R,I159F,I159L,K375R,T164I,V34M" "0,0,0,0,0,0,0" 154 8311 sw1785;dbsnp3832;dbsnp3833;hgmd0613_851 PGS2_HUMAN;NP_001911.1;NP_598010.1 "E273Q,K142E,P185R,T268M,V306A" "0,0,0,0,0" 1634 11917 sw178;dbsnp20649 OR5H1_HUMAN;NP_001005338.1 "A105E,A119T,A224T,D180N,D231E,D70E,F101L,G64E,I153L,I173V,I57M,L131R,L62F,M1T,M40I,M40L,P129S,P265L,R143Q,R143W,S148P,S148T,S230T,T110M,T167S,T181I,V150I,V280L,W50R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26341 10270 sw1790;dbsnp13609 SYEP_HUMAN;NP_004437.2 "A1502D,A296P,A494V,A862P,D308E,E913G,G1072D,H1041Y,I1043V,I1324M,I1481V,I630V,K925Q,L1437V,N575S,N582S,P1262L,P893H,P893T,Q334H,R1372C,S1107F,S859T,T1399N,Y1054C,Y1269C,Y419C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2058 808 sw1792;dbsnp1858;dbsnp1859 LDHC_HUMAN;NP_002292.1;NP_059144.1 "E285Q,I13L,K284E,L330I,R169C,W201R" "0,0,0,0,0,0" 3948 8956 sw1794;spmut898;dbsnp6357;dbsnp6358 HNRPC_HUMAN;NP_001070910.1;NP_112604.2 "D231A,E246K,N248H,R167Q,S238T,V242A,V242L" "0,0,0,0,0,0,0" 3183 10730 sw1796;dbsnp14462 QCR6_HUMAN;NP_005995.2 "A46V,E22G,E51Q,R47Q" "0,0,0,0" 7388 14749 sw1797;dbsnp25929 LAMB1_HUMAN;NP_002282.2 "A1240V,A524V,A848P,D1567A,D649N,D874N,D957N,G1042S,G434R,G860R,G860S,I1547T,I908T,L227S,L942I,N804S,P379S,P750T,Q1022R,Q974E,R1013Q,R1161C,R1217L,R1548C,R1660W,R532Q,R579Q,R668Q,R795G,R853W,S1629L,T1100M,T1397A,T159S,V1346L,V670A,V705L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3912 562 sw1798;spmut2392;dbsnp10579 YES_HUMAN;NP_005424.1 "I198V,K113Q,K282R,Q379H,T38A" "0,0,0,0,0" 7525 5941 sw17;dbsnp22248 SHSA3_HUMAN;NP_001073974.1 "Q161E,S130L,T198P,W13C" "0,0,0,0" 152573 10989 sw1802 PSPB_HUMAN "A228I,A228R" "0,0" 6439 8721 sw1804;spmut2236;dbsnp6559;hgmd0613_1039 TSP1_HUMAN;NP_003237.2 "A195T,A84T,D787N,E283K,N700S,N708K,P354S,P52S,S185R,S24A,T523A" "0,0,0,0,0,0,0,0,0,0,0" 7057 1500 sw1809;dbsnp24375 HSP71_HUMAN;NP_005336.3 "A467V,E110D,I95V,N499S" "0,0,0,0" 3303 4658 sw180;dbsnp23338 F159B_HUMAN;NP_001157914.1 "A111P,D143E,S5R" "0,0,0" 100132916 13716 sw181 F74A7_HUMAN "D12Y,R72K,R86T" "0,0,0" - 13737 sw1810;dbsnp231 MSMB_HUMAN;NP_002434.1 "D80A,D92G,E64K,E91G,I25M,I87T,L17S,Q53R,V98L,W52R" "0,0,0,0,0,0,0,0,0,0" 4477 14486 sw1812;dbsnp15616;dbsnp15617;dbsnp15618 RHOC_HUMAN;NP_786886.1;NP_001036144.1;NP_001036143.1 "A148V,D120H" "0,0" 389 13059 sw1813;dbsnp8910 TNR16_HUMAN;NP_002498.1 "L25F,P202S,S132L,S205L,S325L,V77M" "0,0,0,0,0,0" 4804 8002 sw1814;sws189;dbsnp3675 GLI1_HUMAN;NP_005260.1 "A137V,A670S,A745V,C1011R,D216V,D884A,E1100Q,E192D,G1012V,G600C,G710E,G823E,G933D,L495I,P1077S,P535S,P842S,R191Q,R405Q,R496C,R510W,S105Y,T97M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2735 1694 sw1818;dbsnp13802 CEL2A_HUMAN;NP_254275.1 "A128V,A190T,D135N,N166S,N257S,R228Q,R82C,R87Q,V102F,V131I,V196M,V83M" "0,0,0,0,0,0,0,0,0,0,0,0" 63036 11478 sw1819 CEL2B_HUMAN "D114N,G235S,G79R,Q177R" "0,0,0,0" 51032 11478 sw1823;spmut907;dbsnp25584 HS90B_HUMAN;NP_031381.2 "A702D,H458R,K349E,N701S,Q674H,R604W,R719H" "0,0,0,0,0,0,0" 3326 2876 sw1824;spmut161;dbsnp26043;dbsnp26044;dbsnp26048 ASNS_HUMAN;NP_899199.2;NP_001664.3;NP_597680.2 "A277T,R49W,S455F,V210E" "0,0,0,0" 440 5662 sw1826;dbsnp30597 SYPH_HUMAN;NP_003170.1 "D166N,D248N,D277E,G217R,G293S,L2Q,P302A,R20W,S158L" "0,0,1,1,1,0,0,0,0" 6855 10576 sw182;dbsnp4045 O6C75_HUMAN;NP_001005497.1 "A235D,I176V,L141F,M196T,M256I,V207A" "0,0,0,0,0,0" 390323 10547 sw1832;dbsnp21824 ADH4_HUMAN;NP_000661.2 "A188S,G227V,I309V,I78T,K33E,P21A,P32H,P32L,P32R,R318H,T83I,V374I" "0,0,0,0,0,0,0,0,0,0,0,0" 127 8715 sw1834;dbsnp27140 INHBA_HUMAN;NP_002183.1 "E191D,G334S,Q299P,R229Q,T135M" "0,0,0,0,0" 3624 8014 sw1835;dbsnp3253 MGP_HUMAN;NP_000891.2 "A8V,K53E,N39H,R100Q,T102A" "0,0,0,0,0" 4256 14282 sw1839;dbsnp18232 PLEK_HUMAN;NP_002655.2 "A289T,F216L,I124T,K108Q,K97N,M196T,N229H,R174C,R340K,R5W,V161I,W92R" "0,0,0,0,0,0,0,0,0,0,0,0" 5341 9650 sw183;dbsnp2815 OR5BL_HUMAN;NP_001005218.1 "E293K,I279F,L113P,P181R,S272Y,S296R,V103G,Y309C" "0,0,0,0,0,0,0,0" 219968 10553 sw184 YJ008_HUMAN W263R 0 729800 10751 sw1840;dbsnp23246;dbsnp23247;dbsnp23248;dbsnp23249 CD14_HUMAN;NP_001167576.1;NP_001035110.1;NP_001167575.1;NP_000582.1 "E341K,G328R,L64V,M234I,N204D,R262S" "0,0,0,0,0,0" 929 9090 sw1841;dbsnp5065;hgmd0613_831 CO4A2_HUMAN;NP_001837.2 "A1690T,A459T,E1123G,G1037E,G1152D,G1389R,G1663S,G683A,K701R,M1419T,M927V,P443R,P650S,P718S,P925S,Q1150K,R1109Q,R1484C,R517K,T1361S,T1664P,T552K,V1399I,V192F" "1,0,1,1,1,1,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 1284 625 sw1842 CY1_HUMAN "L89V,M76V" "0,0" 1537 10260 sw1843;sws193;spmut1661 PTPRC_HUMAN "H568Q,I294L,S1283R,T191A,T421I" "0,0,0,0,0" 5788 1156 sw1844;sws195;dbsnp26724 MET_HUMAN;NP_000236.2 "A320V,D1228N,H1094L,H1094R,H1094Y,H1106D,I316M,K1244R,L238S,M1131T,M1250I,M362T,N375S,P773L,P991S,R143Q,R970C,S156L,T1173I,V1092I,V1188L,V1220I,Y1230C,Y1230D" "0,1,1,1,1,1,0,1,0,1,1,0,0,1,1,0,0,0,1,1,1,1,1,1" 4233 969 sw1845;dbsnp20381 TRFM_HUMAN;NP_005920.2 "A109T,A559T,A85V,C379Y,D209N,D264N,E588K,E588Q,F480S,F614I,G433S,G439R,G481S,G57V,I121T,N618S,P93L,R294Q,R294W,R301H,R387H,R409Q,R500W,V142M,V144L,V144M,V17A,V490M,V55I,V698L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4241 3717 sw1848 CFAH_HUMAN "A1010T,N997T,Q400K,V62I,Y402H" "0,0,1,0,0" 3075 1332 sw1850;dbsnp12995;dbsnp12996 FCG3A_HUMAN;NP_001121067.1;NP_001121065.1 "A50P,A50S,A78D,D41Y,E31D,F176V,F203S,F245L,G147D,I106V,K40N,L66H,L66R,N232Y,S65N,S72L,Y158H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2214 11104 sw1852;dbsnp11809 NFIC_HUMAN;NP_001231931.1 "A189E,A417S,F42L,G98S,P166L,R236Q,T265S,V184L" "0,0,0,0,0,0,0,0" 4782 5786 sw1859;spmut1017;dbsnp8518 K1C19_HUMAN;NP_002267.2 "A396D,A60G,E261K,G64V,K317R,M316R,N79K,R187H,R372W,T171M,T327M" "0,0,0,0,0,0,0,0,0,0,0" 3880 6208 sw1860;dbsnp3424 K2C7_HUMAN;NP_005547.3 "A262T,A462T,G364A,H186R,M206V,R149Q,R25S,R313W,R342C,R370Q,R373H,R464H,R64C,T431I,V245A,V411L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3855 6301 sw1864;dbsnp14130 CEL3B_HUMAN;NP_031378.1 "A142T,A241G,E154K,E177Q,G228S,G60C,I209M,I209V,K93N,N31H,P172S,Q134L,R131C,R210H,R79W,R90L,S197T,V139I,V232L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23436 11478 sw1865 RSSA_HUMAN R117W 0 3921 10974 sw1868;dbsnp7132;dbsnp7133 ABHD2_HUMAN;NP_690888.1;NP_008942.3 "A274T,M367L,P371L,R253Q,R53H" "0,0,0,0,0" 11057 8035 sw186;dbsnp10662 EA3L2_HUMAN;NP_001229836.1 "A362V,P375L,R231H" "0,0,0" 100506888 5895 sw1870;sws197;spmut1818;dbsnp24313 ROS1_HUMAN;NP_002935.2 "A320T,A887V,C1370R,C1638Y,D1776H,D2203N,D2213E,D2213H,D2213N,D618G,E1902K,E2265D,E698K,F1439S,F942L,G1027D,G1077E,G126V,G2245D,G2245S,G365A,H1926Y,H1999N,H323N,I537M,K1026M,K1890E,K2228Q,K2328R,K461E,L1620F,L760I,M710V,M792I,N1095I,N13S,N2240K,N790S,P1522Q,P1877S,P1877T,P224S,P2329A,Q1692R,Q1989H,R1506G,R167Q,R2039H,R2126Q,R2205I,R2210T,R466Q,R560H,R863Q,S1109L,S1626F,S1739R,S2229C,S370P,S565L,S653F,T145P,T1782A,T1782P,T2195S,T776M,V1557I,V797A,V979A,Y1239F,Y1353S,Y338C,Y382H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6098 288 sw1873;dbsnp20409;hgmd0613_1581 RM03_HUMAN;NP_009139.1 "A25S,G311S,I345V,M261T,P317R,P329S,P86L,S288P,S75N" "0,0,0,0,1,0,0,0,0" 11222 9703 sw1875;dbsnp4221;dbsnp4222 HXC4_HUMAN;NP_705897.1;NP_055435.2 "I134V,N150S,N178S,R158L" "0,0,0,0" 3221 11597 sw1876;dbsnp14094 CEL3A_HUMAN;NP_005738.4 "A147T,A241G,D173A,E105G,E106D,E226K,F259L,G161S,H24R,H31N,K154E,K154Q,L90R,R255G,R4Q,S25P,V14I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10136 11478 sw1877;dbsnp4089 ENOG_HUMAN;NP_001966.1 "E125D,I393V,L112M,P264A,R126Q,T395A" "0,0,0,0,0,0" 2026 7873 sw1878;dbsnp19944 THIK_HUMAN;NP_001598.1 "D75E,E172D,G235V,H231Q,I319T,L304M,L369P,L369Q,N392S,Q122E,R397H,S28N,T389M,V303I,V387A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 30 8053 sw1879;dbsnp30301;dbsnp30302 P3_HUMAN;NP_001135864.1;NP_062822.1 "A182T,V354I" "0,0" 8273 7057 sw187;dbsnp6465 C2C4B_HUMAN;NP_001007596.2 "D346E,F276V" "0,0" 388125 9227 sw1882;dbsnp24261 GSTA2_HUMAN;NP_000837.3 "E210A,E32K,H8N,K196N,K89R,L180R,P110S,Q125P,R155Q,R155W,R20Q,S112T,V149A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2939 12488 sw1885;sws199;dbsnp1394 MMP10_HUMAN;NP_002416.1 "A267D,A390S,D296N,D95N,F226L,F402L,F455V,G282E,G65R,H475L,I133T,L245P,L440F,L4V,M105K,R316T,R53K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4319 6430 sw1887;spmut2352;dbsnp19256 VILI_HUMAN;NP_009058.2 "A463V,A6T,D727H,E235K,G121C,G43D,H228Q,I617V,K250T,K254R,L280P,N227H,N593K,P480S,R202L,R202Q,R505Q,R536Q,R579W,R620W,R630C,R630H,R689H,R814Q,T607I,V258L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7429 3049 sw1889;dbsnp5021 HMGB1_HUMAN;NP_002119.1 "A149E,D190G,E156Q,G11R,P98L" "0,0,0,0,0" 3146 12631 sw188;dbsnp2473 TTC36_HUMAN;NP_001073910.1 "E49Q,G65R,I78M,L108M,R91H" "0,0,0,0,0" 143941 13183 sw1890;dbsnp28789;dbsnp28790 PAEP_HUMAN;NP_002562.2;NP_001018059.1 "L28V,Q126K,R159G,R179H" "0,0,0,0" 5047 13354 sw1896;dbsnp9653 CN37_HUMAN;NP_149124.3 Q207R 0 1267 8129 sw1897;dbsnp27032 WNT2_HUMAN;NP_003382.1 "A359P,A359T,C294F,D226N,L5R,N353D,R299W,R335H,S136C" "0,0,0,0,0,0,0,0,0" 7472 8784 sw1898;dbsnp9450 CD7_HUMAN;NP_006128.1 "P156L,R229H,R87H,R87P,T113A,T113P,T232M,V40M" "0,0,0,0,0,0,0,0" 924 12116 sw189;dbsnp2191 O2AG2_HUMAN;NP_001004490.1 "A110T,A83E,C97Y,G233R,H266Y,I49V,L311P,L71F,R227C,R299G,R54P,R87L,Y28C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 338755 9213 sw18;dbsnp14292 TMM82_HUMAN;NP_001013663.1 "A233T,F99L,H171Y,L17R,L308R,L7F,L7V,R185C,R235Q,R284C,R284H,R58W,R66Q,S231L,T150M,T245M,T307N,V104A,V87M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388595 9829 sw190 TCPQL_HUMAN "C217S,D308N,S395G" "0,0,0" - 5733 sw1900 CSF1_HUMAN F489S 0 1435 5777 sw1903;dbsnp9292 HXB7_HUMAN;NP_004493.3 "A49V,G64S,M190L,R189C,S19L,T9A" "0,0,0,0,0,0" 3217 12318 sw1904;spmut1812;dbsnp4531;hgmd0613_2133 ROA1_HUMAN;NP_112420.1 "D42N,N73S,Y312C" "0,0,0" 3178 9027 sw1906;sws201;dbsnp6453 CATH_HUMAN;NP_004381.2 "A155T,A165G,A23T,C26S,G11R,H179Y,K160R,T264M" "0,0,0,0,0,0,0,0" 1512 10011 sw1907;dbsnp9017 GIP_HUMAN;NP_004114.1 "L150V,N146S,P35T,R153Q,S103G" "0,0,0,0,0" 2695 13856 sw1910;spmut700;dbsnp15452;dbsnp15453;dbsnp15454 FGR_HUMAN;NP_001036194.1;NP_005239.1;NP_001036212.1 "A395V,P525S,S130R,S518P,S518T,T110I" "0,0,0,0,0,0" 2268 5941 sw1915;dbsnp2 IFIT2_HUMAN;NP_001538.4 "D352E,E79A,G245R,I267T,K121R,K445R,M446V,N330S,Q192H,V298A,Y307C" "0,0,0,0,0,0,0,0,0,0,0" 3433 6845 sw1916;dbsnp153 IFIT1_HUMAN;NP_001539.3 "E242D,E334G,F260Y,H383Y,M108T,P131H,R187H,T3K" "0,0,0,0,0,0,0,0" 3434 6967 sw1918;dbsnp8925 CSF3_HUMAN;NP_000750.1 "A174T,L132S,L157M,P130L" "0,0,0,0" 1440 12806 sw1919;dbsnp18843 PPBI_HUMAN;NP_001622.2 "A360V,E200K,G395E,H298L,N146K,R144H,R33L,R92C,T207I,T67M,V20I" "0,0,0,0,0,0,0,0,0,0,0" 248 6052 sw1923;dbsnp7331 NUDT7_HUMAN;NP_001099133.1 R100H 0 283927 12162 sw1924;dbsnp21723 FREM3_HUMAN;NP_001161707.1 "A496V,D2139G,D412N,D417N,E1505K,E275K,E652Q,F1035L,F1073L,F1939S,F2101S,G1049E,H1156P,H1253D,H215Q,I1454V,I1919T,I839L,K462N,L1346F,M2107L,M669T,N1494K,P1296S,P304L,P392S,R1016I,R1673C,R1673H,R1910Q,R191T,R658L,R870Q,S574F,T2085S,T746I,V17A,V676M,V814M,Y1478N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 166752 127 sw1925 CO4A_HUMAN "A907T,D1073G,D727N,L1210R,N1176S,P726L,R477W,S1201T,S1286A,S347Y,V1207A" "0,0,0,0,0,0,0,0,0,0,0" 721 594 sw1927;dbsnp101 NPS_HUMAN;NP_001025184.1 "R72C,S14L,V75L" "0,0,0" 594857 14762 sw1928 H2BFM_HUMAN R22H 0 286436 11759 sw1929;sws203;dbsnp26825 WEE2_HUMAN;NP_001099028.1 "D470E,E361Q,K8T,Y526D" "0,0,0,0" 494551 5583 sw192;dbsnp4794 FIGL2_HUMAN;NP_001013712.4 "C576F,E275K,T366P,Y75H" "0,0,0,0" 401720 4553 sw1931;dbsnp10849 SBK2_HUMAN;NP_001094871.2 "A282V,A41E,C72R,E20K,G102D,R162G" "0,0,0,0,0,0" 646643 9704 sw1932;dbsnp15294 NBPF7_HUMAN;NP_001041445.1 "E166K,E170D,E314K,I259V,Q297K,R134Q,R134W,R45H,S267P,S329I,Y231F" "0,0,0,0,0,0,0,0,0,0,0" 343505 4405 sw1933;dbsnp28336 F86B2_HUMAN;NP_001131082.1 "D242E,D43Y,R270W,R285C,R285S" "0,0,0,0,0" 653333 10140 sw1934;dbsnp24417 CF222_HUMAN;NP_001010903.3 "A321V,D627N,E137K,E569Q,F570C,F84C,G194R,G505R,H132R,H49P,H588Y,I393T,L582V,N300Y,P200L,P369A,P382L,P500S,P62S,P76S,Q433H,R180Q,R192H,R202H,R454K,R498Q,S616G,S65P,T486I,T51M,V508A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389384 4565 sw1936 BCL8_HUMAN "C81R,T54I,V33A" "0,0,0" - 154 sw1937 LIGO3_HUMAN R426H 0 645191 4913 sw1938;dbsnp27580 U17L7_HUMAN;NP_001243798.1 "A130G,A161G,A161V,A326T,A341T,C210R,D218V,D351N,D3E,E249K,K244E,K299E,L25P,N462D,P103Q,P402R,P440L,P494L,P64L,Q129E,Q147P,R155T,R301S,R34W,S138N,S484T,S511R,T116K,T127I,T35I,T404M,T446M,V213I,V275F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 392197 5710 sw193;dbsnp808 F170B_HUMAN;NP_001157956.1 "C107R,D16N,D252E,D70G,E78Q,I180M,R245W,R66Q,R69L,S45L,Y4H" "0,0,0,0,0,0,0,0,0,0,0" 170370 11216 sw1940;dbsnp20892 ISK8_HUMAN;NP_001073994.1 K78N 0 646424 14693 sw1941;dbsnp4207 ACSM4_HUMAN;NP_001073923.1 "A55V,F300C,P19S,R481H,S285A" "0,0,0,0,0" 341392 5321 sw1942;dbsnp8630 SLN14_HUMAN;NP_001123292.1 "A354P,C565R,D824E,E400Q,G870S,K385E,L905F,P114L,P356S,P526S,Q93R,R827C,S142R,S408P,S880I,T398A,T426N,T682I,V17I,V232A,Y770F,Y912F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342618 2541 sw1943;dbsnp641 ARMS2_HUMAN;NP_001093137.1 "A69S,R3H" "0,0" 387715 14561 sw1944;dbsnp14271 FA58B_HUMAN;NP_001098987.1 "A213T,A213V,D248H,G16R,G46R,Q48R,R189H,T236N" "0,0,0,0,0,0,0,0" - 11861 sw1945;dbsnp10495 S35G4_HUMAN;XP_934053.1 "A108T,A258T,A313T,C330F,E150K,G176E,G190A,G190V,G334E,I329S,K335N,L241P,L45M,P175R,R30C,R326W,T104A,T21S,V140I,V153A,V54M,V73L,Y119H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 646000 9941 sw1946;dbsnp9159 S35G6_HUMAN;NP_001096084.1 "A190T,A263T,A51T,G312R,P251L,S271G,V305A,V311M" "0,0,0,0,0,0,0,0" 643664 9941 sw1947;dbsnp7745 ATX1L_HUMAN;NP_001131147.1 "E661D,G329E,H196Q,I229V,M413V,P189Q,Q600H,R226Q,R226W,S313P,S594G,V320I" "0,0,0,0,0,0,0,0,0,0,0,0" 342371 4172 sw1949 ZH11B_HUMAN "R200G,R42Q,V228L" "0,0,0" 653082 8342 sw194;dbsnp20783 OR5K4_HUMAN;NP_001005517.1 "A242S,D89N,E293K,E52A,E52K,G147E,H6Q,I206V,K229E,L182V,L223W,R53H,Y123F,Y185C,Y20F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403278 10364 sw195 O52A4_HUMAN "C277R,D87G,T303A,Y180S" "0,0,0,0" - 10620 sw1951;dbsnp12015 ZN812_HUMAN;NP_001186743.1 "A82S,D151E,D39G,G227V,G423V,I353R,K63Q,P444L,R171G,R376H,T318M,T372P" "0,0,0,0,0,0,0,0,0,0,0,0" 729648 6908 sw1953;dbsnp7950 ZN688_HUMAN;NP_660314.1 "A29S,P168R,R182S,S131I" "0,0,0,0" 146542 11342 sw1954 FHL19_HUMAN "A106P,R17H" "0,0" - 12936 sw1955 ZN806_HUMAN F498C 0 646915 4680 sw1956 MS3L2_HUMAN "A147D,K316E,L99I,N47D,P257S,S145N" "0,0,0,0,0,0" - 6282 sw1957;dbsnp4993 C1T9A_HUMAN;NP_848635.2 "C243S,D51G,G77A,L6F,M219V,M281V,R178Q,R60H,V301M" "0,0,0,0,0,0,0,0,0" 338872 10065 sw1959;spmut1444;dbsnp6597 PA24B_HUMAN;NP_001108105.1 "A216V,A277T,A342T,A375S,A694V,E110Q,E360A,G646R,G691R,L419V,L541R,M239I,P180L,R134C,R191C,R205C,R228M,R307W,R391H,R706W,R769C,R774Q,S44N,T29I,T51M,T562M,T591I,T683P,V154I,V230L,V241L,V328I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100137049 2062 sw1960;dbsnp6755 JMJD7_HUMAN;NP_001108104.1 "A28G,E22D,E7G,L143R,P17L,Q217R,R203W,V115M,V85M" "0,0,0,0,0,0,0,0,0" 100137047 2062 sw1961;spmut1310 MYZAP_HUMAN A277V 0 81488 5847 sw1962 PAB4L_HUMAN S331N 0 132430 4486 sw1963;dbsnp26131 ZN853_HUMAN;NP_060030.1 "A79T,E17K,E318D,G516C,G8R,L203V,P112L,Q212E,Q30R,S70L" "0,0,0,0,0,0,0,0,0,0" 54753 4490 sw1966;dbsnp2304 TRI49_HUMAN;NP_065091.1 "A375E,C382Y,D372N,G373R,H293D,L302R,N298S,R127H,R362Q,R362W,T394N,V333A,W148L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57093 7546 sw1968;dbsnp18306;hgmd0613_728 PRS56_HUMAN;NP_001182058.1 "A30T,A565S,C292Y,D236E,D330A,G71R,P599A,R176G,V302F,V5M,W309S" "0,0,0,0,0,0,1,1,1,0,1" 646960 5098 sw196;dbsnp23668 I4E1B_HUMAN;NP_001092878.1 "D227Y,R147H,R14Q,R206C,R50Q" "0,0,0,0,0" 253314 12072 sw1970 SAA1_HUMAN "A75V,D78N,G15S,V70A" "0,0,0,0" 6288 12790 sw1971;dbsnp1989 SAA2_HUMAN;NP_110381.2 "A79V,E74D,K102E,N111S,R89H,R89L,V75A" "0,0,0,0,0,0,0" 6289 12790 sw1974;dbsnp11510 HKR1_HUMAN;NP_861451.1 "A574V,E583D,G28R,G531R,H323R,I651T,P552T,Q626R,Q84H,R448H,S513I,S548T,T628I,V526I,Y41D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284459 4491 sw1975;dbsnp13585 ZBT48_HUMAN;NP_005332.1 "G227S,S675A" "0,0" 3104 4183 sw1976;dbsnp27436 GLI4_HUMAN;NP_612474.1 "A180T,D56N,P74T,S15F,S326A,S336L" "0,0,0,0,0,0" 2738 9067 sw1977 PYY_HUMAN "D95H,R37G" "0,0" 5697 14691 sw1978;dbsnp417 SRGN_HUMAN;NP_002718.2 "G101S,I86N,I86T,L11F,L83F,M2T,P68R,R31Q,S100F" "0,0,0,0,0,0,0,0,0" 5552 13760 sw1979;dbsnp5644 GRAB_HUMAN;NP_004122.2 "N210K,N222K,P94A,R120Q,R55Q,T197I,Y247H" "0,0,0,0,0,0,0" 3002 11796 sw197;dbsnp20722 CO6A6_HUMAN;NP_001096078.1 "A1429V,A1590S,A1590T,A370T,E345K,E461A,G1075A,G1659R,H1799R,I1058T,I1137T,I1893V,I916T,N1377S,P556S,R1739Q,R327Q,S1708F,S56C,T179K,V475I,V954M,Y1655C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 131873 211 sw1981;dbsnp5827 RNAS2_HUMAN;NP_002925.1 "H100Q,H156N,I10T,Q104P,Q49H,R95S,W37C" "0,0,0,0,0,0,0" 6036 13694 sw1983;dbsnp24715 MYB_HUMAN;NP_005366.2 "A598V,D438E,E508A,G510E,P227L,R627C,T336I,T422N,V255I" "0,0,0,0,0,0,0,0,0" 4602 3514 sw1984;dbsnp16042 MYBB_HUMAN;NP_002457.1 "I624M,I698S,L619F,N341S,P274L,P284Q,P284R,R47K,R575Q,R687C,S191N,S427G,T286K,T286M,T286R,V231F,V595M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4605 4073 sw198;dbsnp2810 IFM5_HUMAN;NP_001020466.1 "A120T,A129V,G27A,K81R,P31T,T93M" "0,0,0,0,0,0" 387733 14211 sw199 TTL13_HUMAN "A126T,T262I" "0,0" 440307 3110 sw1991;dbsnp17595 ACRO_HUMAN;NP_001088.2 "A293T,F166L,L120V,M296V,T149I,V219I,Y254C" "0,0,0,0,0,0,0" 49 8130 sw1992;sws206;dbsnp29673 ARAF_HUMAN;NP_001645.1 "D287N,E578D,H511Y,L312V,M98T,R375Q,S44F,T181N" "0,0,0,0,0,0,0,0" 369 3464 sw1993;sws207;dbsnp24828 H14_HUMAN;NP_005312.1 "A170T,A47V,K117R,K152R,T45I" "0,0,0,0,0" 3008 12409 sw1995;dbsnp21681 OSTP_HUMAN;NP_001035147.1 "A41S,E122K,H304L,H304R,K241R,L266F,Q21K,R175S,R220H,R301H,S224N,S49P" "0,0,0,0,0,0,0,0,0,0,0,0" 6696 10229 sw1998;spmut1663;dbsnp13069;hgmd0613_985 PTPRF_HUMAN;NP_002831.2 "A356S,A412V,D562N,G881S,H1730Q,I868V,P399L,P536A,R1178Q,R1436S,R1893H,R355C,R972C,S1127L,S1498T,S996Y,T179M,V592I,Y450C" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5792 475 sw1999;dbsnp5760 TGFB3_HUMAN;NP_003230.1 "Q233H,R163W,S55N,S98L,T60M" "0,0,0,0,0" 7043 8333 sw19;dbsnp21978 CLRN2_HUMAN;NP_001073296.1 "A153T,L113V" "0,0" 645104 12290 sw2003;spmut2103;dbsnp8978 TAU_HUMAN;NP_058519.3 "A469T,D285N,E659V,G107D,G107V,G213R,G213W,G28S,G461E,G589V,G620V,G706R,H147D,H147N,H147Y,I468T,K574T,K634M,K686I,L583V,N596K,N613H,P202L,P618L,P618S,R222S,R244Q,R370G,R370W,R5H,R5L,R723W,S318L,S318W,S427F,S447P,S622N,S637F,S669L,T17M,T30A,T416I,V224G,V289A,V617I,V654M,Y441H" "0,0,1,0,0,0,0,0,0,1,1,1,0,0,0,0,1,1,1,1,1,1,0,1,1,0,0,0,0,1,1,1,0,0,0,0,1,1,0,0,0,0,0,0,0,1,0" 4137 3401 sw2006;dbsnp5454 CMGA_HUMAN;NP_001266.1 "A239T,A274G,D369N,E176K,E234K,E264D,E326K,E89G,G315S,G382S,L332P,L44I,M25V,P388L,R271W,R399W,R455W,R456Q,R61Q,S98N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1113 7452 sw2007;spmut2142;dbsnp17975 TFPI1_HUMAN;NP_006278.1 "E99A,N229S,P179L,P220L,T147K,V292M" "0,0,0,0,0,0" 7035 10772 sw2008;dbsnp18200 PPBN_HUMAN;NP_112603.2 "A424T,A42V,A492V,E488D,G423R,G527E,I73T,L273M,L316R,P228R,P22L,P509R,P94S,Q34E,R136L,R264Q,R402Q,R498S,Y95F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 251 6052 sw200;dbsnp7938 S38A8_HUMAN;NP_001073911.1 "A147G,A20D,A213G,D283A,E370K,F435L,G343R,L202F,L210V,M321L,P163S,P341S,P57L,R245Q,S206C,S220T,S248C,T308A,T427M,T5I,V218L,V30I,V431I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146167 7851 sw2012;dbsnp4027 FGF6_HUMAN;NP_066276.2 "A149T,A63V,D174V,G29V,I208T,L48M,L7Q,R188Q,R191W,T162I,V36A" "0,0,0,0,0,0,0,0,0,0,0" 2251 12778 sw2013;spmut641;dbsnp4909 ESTD_HUMAN;NP_001975.1 "G190A,G190E,G257D,N60K,R253Q" "0,0,0,0,0" 2098 11230 sw2018;sws212;spmut985;dbsnp24067 IRF1_HUMAN;NP_002189.1 "A67P,V175A,W11R" "0,0,1" 3659 10261 sw2019;sws213;dbsnp23510 HPLN1_HUMAN;NP_001875.1 "G107S,G336S,H52Q,N281D,N281S" "0,0,0,0,0" 1404 9428 sw201;dbsnp5120 CC169_HUMAN;NP_001138453.1 "K120R,K201Q,Q171E,R39S,R98C" "0,0,0,0,0" 728591 12107 sw2022;dbsnp28970 GRP78_HUMAN;NP_005338.1 "D257Y,D26N,E557G,I132T,N248S,N543H,R261C" "0,0,0,0,0,0,0" 3309 4277 sw2023;sws214;dbsnp12937 LAMC1_HUMAN;NP_002284.3 "A1136V,A1158T,A1335T,A1435T,A725T,D411G,E1266K,E539K,E731K,I458V,I547T,L888P,N1205S,N837K,P321S,R1011H,R1036W,R1102C,R1121Q,R490W,R527C,R527L,R826H,T685A,V901M,W540L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3915 723 sw2027;sws215;dbsnp18086 MAP2_HUMAN;NP_002365.3 "A224V,A414S,A82G,D1003V,E1027G,E179G,E469K,E55K,E765K,F499L,G1093V,G719D,G991R,H976L,I987T,K1104Q,K1344T,L167F,M1099V,M329V,P807S,Q110K,R423K,S940A,T1224M,V407F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4133 541 sw2028;dbsnp2440 HSP7C_HUMAN;NP_006588.1 "D32Y,F459L" "0,0" 3312 4277 sw202;dbsnp9000 DRS7C_HUMAN;NP_001207422.1 "E233D,F203S,I180S,P187L,S227L" "0,0,0,0,0" 201140 10605 sw203 TTLL8_HUMAN "E294K,L127W,R191H" "0,0,0" 164714 2898 sw2033;dbsnp4460 GTR3_HUMAN;NP_008862.1 "D244E,P54S,Q227L,R91H,S236Y,S55T,V113I,V480F,V496F,V496I,V85L" "0,0,0,0,0,0,0,0,0,0,0" 6515 6305 sw2034;spmut2;dbsnp15441 41_HUMAN;NP_001159477.1 "F118Y,G58R,K88R" "0,0,0" 2035 2804 sw2037;hgmd0613_849 ODB2_HUMAN G384S 1 1629 6961 sw2039;dbsnp16234 PYGB_HUMAN;NP_002853.2 "A303S,A57G,D502N,E551D,F327L,F750L,G421S,K622N,N441S,P195L,P382L,P498L,P836L,R206C,R399W,R590P,R842W,V300M,V698M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5834 2911 sw2041;dbsnp225 MBL2_HUMAN;NP_000233.1 "A120E,G54D,G57E,G65A,G65E,K150T,N214Y,P101L,P8S,R52C,S39N,S40A,T24A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4153 11943 sw2044;sws216;spmut210;dbsnp17330 BCR_HUMAN;NP_004318.3 "A1104G,A1149T,A1204G,D1106N,D752E,E1037K,E1161K,E46D,G166D,I413M,K1187E,K558T,K866Q,N157I,N612S,N796S,Q1244H,R1213Q,R308C,T1096A,T1127M,T748M,T984M,V1091M,V1107I,V1189M,V399L,V949I,W1235R,Y910C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 613 1226 sw2046;dbsnp5134 LAMP1_HUMAN;NP_005552.3 "G36D,I309T,L127V,R77C" "0,0,0,0" 3916 8233 sw204;dbsnp13403 LRIQ3_HUMAN;NP_001099129.1 "A255T,A558V,C582F,E434K,F35C,H156Y,H157R,H389D,I330F,I398V,K315N,L483F,M129I,R227C,R525C,V54I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127255 4854 sw2053;dbsnp10968 PSG1_HUMAN;NP_001171754.1 "A101V,A117S,A356V,D128G,D74G,E197K,E412K,E41Q,E47K,E87Q,G127R,G133V,H143Y,I125L,I125V,I272M,I272T,I312T,I319V,K126T,L122S,L205F,L30P,L4V,L52H,N254K,N61S,P289R,R12H,R220W,R288Q,R315Q,R320G,R397H,R73K,T198N,T270N,T33N,T43P,T63A,V134E,V418F,V55L,W273S,Y120H,Y271S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5669 7855 sw2054;dbsnp11109 PSG2_HUMAN;NP_112536.2 "A263T,E11Q,E310K,E310V,F193I,F193L,G118R,G86S,I125M,L18F,L204I,L236F,L331F,P188R,Q179L,Q281L,R114Q,R220W,R304G,R304H,S186N,S296R,T176A,T314S,T335R,T33N,V20L,Y137C,Y137H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5670 4058 sw2059;spmut409 CP2A6_HUMAN "F392Y,G5R,K194E,L160H,S224P" "0,0,0,0,0" 1548 6755 sw205;dbsnp13834 F177B_HUMAN;NP_997351.2 "I3S,Q143R" "0,0" 400823 13759 sw2061;sws221 DMD_HUMAN "A1278P,A784G,D882G,H2921R,K1377N,K2366Q,L623I,N2299T,Q133P,Q2937R,R1844S,R2191W,V1197F,W118R" "0,0,0,1,0,0,0,0,0,0,0,0,0,1" 1756 91 sw2062;spmut247 C1TC_HUMAN "P162L,R134K,R653Q" "0,0,0" 4522 2192 sw2065 UTER_HUMAN "R56G,T68A" "0,0" 7356 14750 sw2068 MPRI_HUMAN "A2459V,A724T,D273G,E1254A,G1315E,G1860D,G231D,G604S,G856S,I1908M,K512Q,L252V,L817V,N2020S,P203L,Q1696R,R1335H,R1619G,R1832H,R529Q,R91H,T1107M,T1184S,T1395S,V1124I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3482 243 sw206;dbsnp30003 CX030_HUMAN;NP_001092313.2 "A35V,F368V,H402P,H598Y,H606R,I332V,I363M,P472S,R252S,S33N,S455F" "0,0,0,0,0,0,0,0,0,0,0" 645090 4759 sw2070;spmut1085;dbsnp8103 KPSH1_HUMAN;NP_006733.1 "G64S,N301S,R183H,V16I,V285I" "0,0,0,0,0" 5681 8054 sw2072;dbsnp19392 CRGA_HUMAN;NP_055432.2 "N18I,P148L,Q67E,R80H,W157L" "0,0,0,0,0" 1418 13469 sw2073;dbsnp17253 VPREB_HUMAN;NP_009059.1 "A119S,D76N,E132K,G80S,P5A,R38H,R86H,S122L,Y99F" "0,0,0,0,0,0,0,0,0" 7441 14009 sw2074;dbsnp22369 FGF5_HUMAN;NP_004455.2 "G68R,H151Y,H21L,H21R,K244E,M54V,W81C,Y104H" "0,0,0,0,0,0,0,0" 2250 11518 sw2076 NFH_HUMAN "E811A,P615L" "0,0" 4744 1996 sw2077;dbsnp23621;hgmd0613_879 SYHC_HUMAN;NP_002100.2 "A399V,A43T,A5E,G205D,K376R,L421V,Q14K,T482M,T482R,V35M,Y454S" "0,0,0,0,0,0,0,0,0,0,1" 3035 6481 sw2078;spmut659 FABPI_HUMAN A55T 0 2169 14214 sw207;dbsnp3395 BTBDB_HUMAN;NP_001018082.1 "A1002D,A1044T,A327T,A784P,D392N,D595N,E994D,G1038R,G1076S,G265A,G448S,R649H,S788N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 121551 1696 sw2084 ADT3_HUMAN S242F 0 293 10542 sw2086;dbsnp14016 TPR_HUMAN;NP_003283.2 "E509A,I1382V,I346T,I660T,Q1111R,R1529L,R1832H,S1167T,S632G,S960N,T1039I,T114I,T12M,T1707A,V1178I,V1428G,V779I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7175 279 sw208;dbsnp12559 YJEN3_HUMAN;NP_940939.2 "A213T,A297V" "0,0" 374887 10877 sw209 F127A_HUMAN S60N 0 8933 12761 sw2090;spmut684;dbsnp15601 FCGR1_HUMAN;NP_000557.1 "D324N,I338T,K352I,L105P,T19A,V39I" "0,0,0,0,0,0" 2209 9109 sw2091;dbsnp13465 FCG2A_HUMAN;NP_001129691.1 "D280A,H167R,I218V,M140V,M289V,Q63R,R245W,S315G,T155A" "0,0,0,0,0,0,0,0,0" 2212 10338 sw2092;dbsnp13800 FCERA_HUMAN;NP_001992.1 "G242A,G242C,K84R,L245H,N247K,P254L,S101N,T177M" "0,0,0,0,0,0,0,0" 2205 11760 sw2094;dbsnp13922 MYCL1_HUMAN;NP_001028253.1 "A317V,G232C,S315Y,T362S" "0,0,0,0" 4610 8714 sw2095 GRAA_HUMAN M121T 0 3001 11642 sw2096;dbsnp16063 BMP2_HUMAN;NP_001191.1 "A106T,D387G,G327R,L161S,P77S,R190S,S37A,T347M" "0,0,0,0,0,0,0,0" 650 8421 sw2098;dbsnp22022 BMP3_HUMAN;NP_001192.2 "A20T,K345N,L205F,Q176K,Q176L,R192Q,R74W,S153A,S153P,T222A,T222M,T348M,Y67N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 651 7161 sw20;dbsnp20726 CC055_HUMAN;NP_001123474.1 I102T 0 152078 14165 sw210 GOG8A_HUMAN "K480N,R541Q,S530N" "0,0,0" 23015 4775 sw2100;spmut573;dbsnp5593 ECP_HUMAN;NP_002926.2 "G130R,G83S,R72C,T124R" "0,0,0,0" 6037 13694 sw2101;dbsnp20553;dbsnp20554 SKIL_HUMAN;NP_005405.2;NP_001234937.1 "A38V,H111Y,M666K,P247L,T179I,V69L" "0,0,0,0,0,0" 6498 4225 sw2104;dbsnp9554;dbsnp9555 MYL4_HUMAN;NP_001002841.1;NP_002467.1 "F56S,I46V,N186Y" "0,0,0" 4635 12791 sw2106;sws227;dbsnp27929 DEF4_HUMAN;NP_001916.1 "A19E,A8P,A8V,I84T,S43P" "0,0,0,0,0" 1669 14694 sw2107;dbsnp24802 MOTI_HUMAN;NP_002409.1 "A25G,P98L,R43Q,V15A,V15I" "0,0,0,0,0" 4295 14469 sw2108;sws228;dbsnp8799 MYH1_HUMAN;NP_005954.3 "A1255T,A1766S,A1766V,A1821G,A1889V,A653P,A687V,C1253R,D1861E,E1549Q,E1700D,E528K,E540D,E704K,E813Q,E935A,E935D,F344I,G636S,G640S,I1098T,I1119T,I1903N,K1223E,L1659I,M360I,M688V,M881I,N680S,Q1539H,Q329E,R1171Q,R1272W,R1283C,R1341C,R1386C,R1400H,R1479C,R1638H,R1693W,R1716C,R1884K,R1913G,R1913W,R191C,R24Q,R349K,R675W,T178I,T345I,V70I,Y435H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4619 434 sw211 MYH7B_HUMAN "P738S,Q1656R,V1875E" "0,0,0" 57644 434 sw2112;dbsnp18346 XRCC5_HUMAN;NP_066964.1 "A550S,D180E,I134M,I392V,I508V,L463F,R599H,R643Q,V454I" "0,0,0,0,0,0,0,0,0" 7520 3764 sw2114;dbsnp7901 COX41_HUMAN;NP_001852.1 "A3P,A3T,R41Q,S26G,Y38F" "0,0,0,0,0" 1327 13522 sw2115 IFM1_HUMAN P13A 0 8519 14198 sw2124;dbsnp18295 SCG2_HUMAN;NP_003460.2 "A196V,A236V,D294G,D535G,I547V,P564L,Q291R,Q557L,R421G,Y61H" "0,0,0,0,0,0,0,0,0,0" 7857 4945 sw2128;dbsnp13791 CP4B1_HUMAN;NP_000770.2 "A111V,A307T,C369S,F246L,F354C,F5I,G125D,G205S,G449R,H75Q,M331I,R173W,R225C,R244H,R264Q,R264W,R274Q,R274W,R280Q,R340C,R35W,R375C,R429C,R473C,R473H,R482Q,S322G,V345I,V424I,Y329S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1580 6325 sw2129;dbsnp2590 NCAM1_HUMAN;NP_851996.2 L7F 0 4684 2697 sw212;dbsnp6533 DISP2_HUMAN;NP_277045.1 "A1343P,A396T,C56S,D134N,G1145S,G386R,G388E,G576R,G577V,H1199L,H861N,H92Y,M503V,P47A,P987A,R114Q,R1171H,R1247W,R192Q,R263W,R317H,S791R,S9G,T467I,T470S,T827S,V1000M,V1065M,V520M,V993M,Y375F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85455 978 sw2130;dbsnp8525;dbsnp8526;dbsnp8527;dbsnp8528;dbsnp8529 ICAM2_HUMAN;NP_000864.2;NP_001093257.1;NP_001093258.1;NP_001093259.1;NP_001093256.1 "A37T,D180G,R199H,R256Q" "0,0,0,0" 3384 11362 sw2131;dbsnp22975;hgmd0613_1193 CSPG2_HUMAN;NP_004376.2 "A1804T,A1859E,A3035V,A772G,D2042N,D2937Y,D3042N,D3165E,D355H,D355N,E1535G,E2043K,E2393V,E2494Q,F2301C,F2301Y,G192R,G2012S,G333V,G428D,G890C,H1319Q,I1983L,I415V,I508N,I873R,K1516R,K2497E,K2755N,K349E,L1461M,L2256P,L255F,L2631F,L793S,M619V,N3011K,N3253S,N74S,P2344S,P30S,P54S,P644L,P963S,Q2108E,Q2973H,R1125H,R1238T,R1826H,R2523H,R2697C,R2697H,S2473R,S300L,S37A,S467F,S817C,S959C,S970F,T1670A,T1719S,T2656I,T2671K,T2958I,T3045R,T585A,T632M,T651P,T689A,T889I,V2315L,V2460A,V466I,V720A,W622R,Y1690C,Y1917F,Y2883C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1462 109 sw2132;spmut996;dbsnp18272 ITA4_HUMAN;NP_000876.3 "E528Q,Q846K,R878Q,S634T,V359I,V824A,Y282H" "0,0,0,0,0,0,0" 3676 1946 sw2133;sws230;dbsnp3696 RARG_HUMAN;NP_000957.1 "A28T,K352R,S427L,Y374H" "0,0,0,0" 5916 7357 sw2135 K1C10_HUMAN "H487Y,I101S,R422E" "0,0,1" 3858 4864 sw2136 K1C13_HUMAN T298A 0 3860 6208 sw2138;dbsnp26251 PDIA4_HUMAN;NP_004902.1 "A345G,D593N,E166G,E43A,E51D,E549K,G284R,G314R,K221R,K386E,K521E,P607T,P614T,P99L,T173M,T241A,V117A,V527I,V530M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9601 4635 sw2139;dbsnp23198;dbsnp23199 CO6_HUMAN;NP_001108603.2;NP_000056.2 "A119E,A934T,D519N,D696G,D696N,G275R,G275W,G452E,G463R,G840S,I217T,I283S,I434V,K397E,K763R,M616I,N238H,P532H,Q567H,R4C,R4L,R531Q,R596Q,R656Q,R841C,S470F,T181I,T226I,T327M,T691I,T812I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 729 2410 sw213;dbsnp3791 SRRM4_HUMAN;NP_919262.2 "E479G,R209Q,R224H,R406Q,R547S,S243N,V52F" "0,0,0,0,0,0,0" 84530 5009 sw2140;dbsnp11329;dbsnp11330;dbsnp11331;dbsnp11332;hgmd0613_672 PPA5_HUMAN;NP_001602.1;NP_001104506.1;NP_001104504.1;NP_001104505.1 "D241N,D287A,G109R,G215R,K52M,L201P,M264K,N262H,R100H,R100L,R138H,R272C,T89I,V106M,V148M,V178M,V200M,V221I,V256L" "1,0,1,1,1,1,1,1,0,0,0,0,1,0,0,0,0,0,0" 54 10262 sw2141;dbsnp11752 CEAM1_HUMAN;NP_001703.2 "A6V,A83V,N95Y,P186Q,P485S,Q123H,Q35K,Q364R,Q376R,Q61H,Q88K,R225H,T117I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 634 4058 sw2142 TCTP_HUMAN V146F 0 7178 13505 sw2146;sws231;dbsnp1431 PRG2_HUMAN;NP_002719.3 "C201Y,G195V,H206Y,L115V,L35Q,P50T,R108C,R108H,T88M" "0,0,0,0,0,0,0,0,0" 5553 12439 sw2147 1A11_HUMAN "E43K,T345S" "0,0" 3105 7735 sw2148 HLAE_HUMAN "G104R,N98K,R128G,R178G" "0,0,0,0" 3133 7735 sw214;dbsnp25828 SOBP_HUMAN;NP_060483.3 "I539V,S683G" "0,0" 55084 2751 sw2151;spmut543;dbsnp25555 DRB4_HUMAN;NP_068818.4 "D105G,G113R,G164S,H141Y,M209I,M210T,P212A,Q260H,R195Q,T106N,T262K,T262R,Y110H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3126 11408 sw2152;dbsnp24652 DOB_HUMAN;NP_002111.1 "G103V,L234F,Q86K,R119K,R18Q,V210I,V241G,V244I" "0,0,0,0,0,0,0,0" 3112 11408 sw2153;spmut1575;dbsnp5078 PLSL_HUMAN;NP_002289.2 "A133T,A40V,D24E,E241K,I538V,K533E,K534T,P544A,P544S,R244K,R347W,S257N" "0,0,0,0,0,0,0,0,0,0,0,0" 3936 4804 sw2154;dbsnp20576 ACPH_HUMAN;NP_001631.3 "A252V,F378S,G367V,G407V,H575R,K202R,M720T,P470L,Q572H,R466Q,S85I,T541M,V343L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 327 3765 sw2156;spmut824;dbsnp10731 GYS1_HUMAN;NP_002094.2 "E359G,E619Q,G357S,G464S,I108M,K130E,M416V,N283S,P442A,P691A,P85L,V186I" "0,0,0,1,0,0,0,0,0,0,0,0" 2997 3725 sw2158 ANXA8_HUMAN "G177A,S6A" "0,0" 728113 4347 sw2160 COBA2_HUMAN "D593G,E824K,P879L" "0,0,0" 1302 533 sw2162;dbsnp11991 CC130_HUMAN;NP_110445.1 "C336S,D123N,M124V,Q368K,R121L,R88Q,S22C,T376K,Y97H" "0,0,0,0,0,0,0,0,0" 81576 8657 sw2164;spmut500;dbsnp8667 DHB1_HUMAN;NP_000404.2 "A238V,G313S,P57Q,R267L,R3C,R51Q,S223N,T191I,V108M,V21L" "0,0,0,0,0,0,0,0,0,0" 3292 10189 sw2165;spmut276 CATE_HUMAN T329I 0 1510 8560 sw2168 LYAM1_HUMAN E201Q 0 6402 8898 sw2169 CD99_HUMAN "M166V,N173I" "0,0" 4267 13260 sw217 A2ML1_HUMAN "C970Y,D850E,G207R,H1229R,T1131M,T1412A" "0,0,0,0,0,0" 144568 895 sw2173 HCLS1_HUMAN "E361K,T235A,V436L" "0,0,0" 3059 6898 sw2174;dbsnp13597;dbsnp13598 FPPS_HUMAN;NP_001995.1;NP_001129293.1 "D193Y,E290A,I120T,I391V,L374Q,R48C,V364A" "0,0,0,0,0,0,0" 2224 8170 sw2175;spmut280;dbsnp3999;dbsnp4000;dbsnp4001 CBPM_HUMAN;NP_001865.1;NP_938079.1;NP_001005502.1 "N299S,P379L,R24H,V133I,Y147C,Y99C" "0,0,0,0,0,0" 1368 7705 sw2176 CX7A2_HUMAN E40D 0 1347 14481 sw2178;dbsnp8927 AT1B2_HUMAN;NP_001669.3 "E136K,I163T,Q124L,R148C,R148H,T199A" "0,0,0,0,0,0" 482 11093 sw218 CLCA1_HUMAN "E406V,K426R,K760N,L65F,M524T,N357S,R152K,Y661H" "0,0,0,0,0,0,0,0" 1179 2502 sw2180;sws234;dbsnp13104 NID1_HUMAN;NP_002499.2 "A299V,A932V,D72E,E1148K,E999G,G1218S,G49E,G504R,G858R,I604F,K970E,L1058F,L1163V,L983M,N213S,P931S,P976L,Q1246R,Q669R,Q807H,Q850H,R302H,R31L,R335H,R387H,R702Q,R735H,R757H,S60R,T100P,T1226I,T389M,T733N,T780P,T863A,V160M,V246I,V279A,V438G,Y709C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4811 1291 sw2184;sws235;dbsnp15049 INSRR_HUMAN;NP_055030.1 "A127E,A161V,C246R,D513Y,D903E,E227K,G1216S,G288S,G696S,I1131N,I725T,L1257H,M1206T,N1198S,P928L,R1044H,R1064H,R1266W,R244H,R279C,R554C,R69C,S19F,V1205I,V126M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3645 1037 sw2186;dbsnp8933 HXB3_HUMAN;NP_002137.4 "G120S,G258D,H430Q,P82T,S285N,V31F" "0,0,0,0,0,0" 3213 7712 sw2187;dbsnp9289;hgmd0613_881 HXB1_HUMAN;NP_002135.2 "E162K,E265G,L14P,P28H,P95T,Q103H,S291F,S291T,S291Y,T71N,Y22H" "0,0,0,0,0,0,0,0,0,0,0" 3211 10830 sw2189;dbsnp16572 RSMB_HUMAN;NP_937859.1 "P202S,S79P" "0,0" 6628 12117 sw2191;spmut936;dbsnp680 IDE_HUMAN;NP_004960.2 "D947N,E612K,K212N,K511E,L298F,M742T,Q35R,R722W,S484C,T878A" "0,0,0,0,0,0,0,0,0,0" 3416 2025 sw2198;dbsnp18428;hgmd0613_755 SYDC_HUMAN;NP_001340.2 "G363E,I268V,L426F,P162S,P464L,Q125H,Q255H,R197H,R494G,V135I" "0,0,0,0,1,0,0,0,1,0" 1615 6631 sw2199;dbsnp27869 I23O1_HUMAN;NP_002155.1 "A4T,D219E,F152L,M295L,R105K" "0,0,0,0,0" 3620 8519 sw219;dbsnp13704 EFCB7_HUMAN;NP_115813.2 "D126E,D571E,F27I,G199A,G526R,L29V,L304P,M262T,P207L,Q295H,R375K,R475G,S186G,S535P,S626F,T248I,V324I,V46I,V553M,Y167C,Y292C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84455 4806 sw21;dbsnp21937 RHG10_HUMAN;NP_078881.3 "A366T,A494V,D220N,E489D,E621D,E621Q,G395R,G666E,H159Y,I676V,M226T,M684V,N222S,N301S,N625S,P488S,P577L,R731Q,S143I,S143T,S600L,T703A,V736M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79658 2748 sw22 CN182_HUMAN P38L 0 283551 13828 sw2200;dbsnp8806;dbsnp8807;hgmd0613_896 PLAK_HUMAN;NP_068831.1;NP_002221.1 "E96K,I442F,I687V,M697L,N309S,N690S,R142H,T19I,V456I,V648I" "0,0,0,0,0,0,0,1,0,0" 3728 3350 sw2201;dbsnp27437 QCR7_HUMAN;NP_006285.1 R102K 0 7381 14099 sw2204;dbsnp20117 CBPB1_HUMAN;NP_001862.2 "A277T,D172E,D208N,F232L,G146R,I394M,R195H,R42C,S65G" "0,0,0,0,0,0,0,0,0" 1360 8234 sw2205;dbsnp20352 CBPA3_HUMAN;NP_001861.2 "A168S,A62V,A81S,D172N,M232L,N120S,R20L,R273P,R273Q,R341Q,T171M,T283M,T317I,V126M,V149L,V7M,Y411S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1359 8235 sw2208;spmut91;dbsnp6388 AMPN_HUMAN;NP_001141.2 "A311V,A422G,D242Y,D370N,D810N,E781Q,H313D,H505Q,I603K,I603M,L243P,L258I,N883K,R140H,R537W,R711H,R86Q,R935W,S752N,T321M,T627M,T79M,V20M,V605I,V620L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 290 2248 sw220;dbsnp17460 SFI1_HUMAN;NP_001007468.1 "A489T,E126K,H13L,H797L,K433N,L1087P,L205P,L408V,Q167H,R287W,R353W,R549Q,R685C,R725Q,R72H,R755W,R760H,R988H,S53Y,V302M,W330R,Y322H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9814 1306 sw2212;dbsnp23234 IL9_HUMAN;NP_000581.1 "K126T,R91W,T117M" "0,0,0" 3578 14029 sw2218;dbsnp24723;dbsnp24724 EZRI_HUMAN;NP_001104547.1;NP_003370.2 "A494P,E108K,E377D,L532V,N251S,Q21P,R180C,R381Q,T533M" "0,0,0,0,0,0,0,0,0" 7430 5094 sw221;dbsnp17527 YDJC_HUMAN;NP_001017964.1 "A263T,T159M" "0,0" 150223 10313 sw2222;dbsnp7605;hgmd0613_822 CD19_HUMAN;NP_001761.3 "L132R,L174V,L507V,P176L,P57L,R363C,R490Q,R514H,S425F" "0,0,0,0,0,0,0,0,0" 930 5742 sw2223;dbsnp22321;dbsnp22322 GLPE_HUMAN;NP_002093.2;NP_941391.2 "G13E,R78P" "0,0" 2996 13915 sw2225;spmut2346;dbsnp12207 VAV_HUMAN;NP_005419.2 "E475K,H581R,T739M,V279I" "0,0,0,0" 7409 2926 sw2228;dbsnp22816 AREG_HUMAN;NP_001648.1 "D80V,Y81C" "0,0" 374 11862 sw222;dbsnp20599 PP2D1_HUMAN;NP_001239586.1 "A260T,A604G,C202Y,D154E,E15Q,E244K,E465Q,F123L,F251I,G356V,I619M,M350I,R37H,S67C,T505I,T90M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151649 4796 sw2235;dbsnp11949 ZNF44_HUMAN;NP_001157748.1 "G92A,H491Y,R563H,R82P,T212A,T268I,T358A" "0,0,0,0,0,0,0" 51710 3684 sw2238;spmut300;dbsnp15300 CD1D_HUMAN;NP_001757.1 "A118S,E242D,G218D,L293P,R66C,S284G,T64S,W41S,W49R" "0,0,0,0,0,0,0,0,0" 912 8827 sw2239;dbsnp17425 IGLL1_HUMAN;NP_064455.1 "A112T,A174V,G159S,H198Q,L126P,M162K,N171S,P120L,P142L,P155L,R189H,R60W,T117I,T146M,T148I,T206S,T95K,V160M" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 3543 12661 sw223;dbsnp20626 ZBBX_HUMAN;NP_078963.2 "A284V,A473G,A636G,E555K,H346R,I511T,K160N,K178R,K278R,L147F,P14T,Q215K,R237I,S528N,T234M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79740 2970 sw2240;dbsnp24473 ZEP1_HUMAN;NP_002105.2 "A1520G,A2692G,D1244H,E2580K,F692V,F874L,G891E,K103E,K1170N,K1551E,M1609I,M266I,M933V,N1074S,N272K,P1396L,P2374S,P362L,P829L,Q1915R,R1786S,S1055F,S170G,S343T,T1330M,T1495I,T187M,T2444M,T716A,T873A,V1503I,V2401A,V828I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3096 188 sw2242;dbsnp16631 PAX1_HUMAN;NP_006183.2 "A229S,A309G,G297D,G313S,G485D,K224R,P453L,P480S,P504L,P507L,Q139H,Q375E,T439R" "0,0,0,0,0,0,0,0,0,0,1,0,0" 5075 6068 sw2243;dbsnp19876;hgmd0613_827 CHIN_HUMAN;NP_001813.1 "A223V,E313K,G228S,I126M,I205T,L20F,P252Q,Y143H" "1,1,1,1,0,1,1,1" 1123 7237 sw2245 RAG1_HUMAN "A156V,D302E,H249R,R244G" "0,0,0,0" 5896 1924 sw2248;spmut1739;dbsnp14834 RFA2_HUMAN;NP_002937.1 "G15R,I76V,N203S,Y14S" "0,0,0,0" 6118 11479 sw2249;spmut1294 MUC1_HUMAN "S1142N,V1117M" "0,0" 4582 1268 sw224;dbsnp11741 CEA18_HUMAN;NP_001073874.1 "A14P,C398W,E56K,H378R,L221H,M78T,N199K,S198N,S346N,T222A,T305S,V108M,V252I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 729767 8617 sw2254;spmut1384;dbsnp24552 NQO2_HUMAN;NP_000895.2 "A196S,C35Y,E29G,F127C,F168C,G58D,K16R,L47F,P49L,V120M,V184A" "0,0,0,0,0,0,0,0,0,0,0" 4835 12301 sw2255 LYAM3_HUMAN "L640V,T756P" "0,0" 6403 3032 sw2256 PGCA_HUMAN V2303M 1 176 234 sw2257;dbsnp8696 ITB4_HUMAN;NP_000204.3 "H1216Q,R844L,R98H,T1764S" "0,0,0,0" 3691 545 sw2258;dbsnp7518;dbsnp7519 LEUK_HUMAN;NP_001025459.1;NP_003114.1 "A266V,G163S,G199E,Q222H,R279W,S225R,T209I,T22I,T46A,T93A,V269A" "0,0,0,0,0,0,0,0,0,0,0" 6693 8576 sw225;dbsnp18349 NOTO_HUMAN;NP_001127934.1 "N164K,R154K,R5T,S97L" "0,0,0,0" 344022 11883 sw2260;sws245;spmut96;dbsnp27365 ANK1_HUMAN;NP_065209.2 "A1126P,A1367T,A1462V,A944T,A983S,D1592N,D1864N,D333N,D845E,E1286D,G778C,H723N,I1054T,L1483R,L276R,L733I,M1325V,N218K,N495H,N495S,P496S,R1255C,R1457H,R1536C,R1682Q,R21T,R322L,R385C,R446T,R619H,R832Q,S1214L,S1341L,S1392T,T1075I,T1192P,V1277M,V1546I,V463I,V750A,V991L,Y166F,Y711C" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 286 489 sw2261 1A30_HUMAN "H21Q,Q86E,T55A" "0,0,0" 3105 7735 sw2263 1A33_HUMAN "H195Y,M358V" "0,0" 3105 7735 sw2268;spmut1506 PECA1_HUMAN "C304Y,L125V,R670G,S563I,S563N" "0,0,0,0,0" 5175 3718 sw2269;spmut1323;dbsnp20977 NCK1_HUMAN;NP_006144.1 "A180V,A62D,G258R,N184S,V319I" "0,0,0,0,0" 4690 8980 sw226;dbsnp9229 KRA97_HUMAN;XP_003118786.1 "C8G,K20Q,P138L,P31S,S130N,T23I,T2S" "0,0,0,0,0,0,0" 100505724 11919 sw2270;dbsnp18796 GCFC2_HUMAN;NP_003194.3 "A758G,C595S,D463G,E724D,I553N,I553V,K295N,N249S,N688S,N760K,P32A,P500T,Q316E,Q425E,Q728E,R144C,R144H,R188K,R194S,R408Q,T575A,T594A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6936 3351 sw2271;sws247;dbsnp25228 H15_HUMAN;NP_005313.1 "A151S,A20T,A211T,A28P,K144R,N58S,P121H,S173I" "0,0,0,0,0,0,0,0" 3009 12409 sw2272;dbsnp24649 H13_HUMAN;NP_005311.1 "A146P,A165G,E43K,E75K,I11T,K122R,N78K,V41I" "0,0,0,0,0,0,0,0" 3007 12409 sw2273;spmut827;dbsnp24728 H12_HUMAN;NP_005310.1 "A116G,A171P,A171V,A18V,A28P,A28T,G124A,K176N,K206N,K52E,N108K,P14L,S113A,V202I,V20A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3006 12409 sw2274;dbsnp18038 CTLA4_HUMAN;NP_005205.2 "M91T,T17A" "0,0" 1493 12472 sw2275;dbsnp12554 ZN823_HUMAN;NP_001073962.1 "R320Q,R566H,T153R" "0,0,0" 55552 3684 sw2278;spmut212;dbsnp28407 BGAT_HUMAN;NP_065202.2 "A16T,A177T,A350V,D291N,E223D,F216I,G230R,G235S,G268A,G268R,G35R,K346M,L266M,M214R,M288R,N106S,P156L,P257L,P74S,R161H,R176G,R188S,R18L,R198W,R199C,R352G,R352W,R63H,R63L,T163M,T88A,V210M,V277M,V36F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28 9551 sw2279;sws248;spmut533;dbsnp7416;dbsnp7417 DPEP1_HUMAN;NP_004404.1;NP_001121613.1 "A402T,E351K,E351Q,G4R,H393Q,I232M,R245W,R378S,V104M,V241L,V241M" "0,0,0,0,0,0,0,0,0,0,0" 1800 8355 sw227;dbsnp3354 CL071_HUMAN;NP_001073875.1 "A245S,I140V,L134P,P168L" "0,0,0,0" 728858 11504 sw2282;dbsnp23255 PRLR_HUMAN;NP_000940.1 "D229N,E179K,E400Q,E578Q,H65R,I100V,I170L,N233K,N516I,R351Q,R477G" "0,0,0,0,0,0,0,0,0,0,0" 5618 4877 sw2285;dbsnp3256 GBB3_HUMAN;NP_002066.1 "D76N,G272S,G324E,K134R,L280F,V40M,V81M,W339L,Y145S" "0,0,0,0,0,0,0,0,0" 2784 8679 sw2286;dbsnp25366;dbsnp25367;dbsnp25368;dbsnp25369;dbsnp25370 CRIS2_HUMAN;NP_003287.1;NP_001135880.1;NP_001135879.1;NP_001135907.1;NP_001135889.1 "C196R,L140V,N131S,P127R,R73S,R93G" "0,0,0,0,0,0" 7180 11531 sw2288;sws251;spmut691;dbsnp23257 FER_HUMAN;NP_005237.2 "A443P,D392Y,E813Q,I350T,I507T,K585R,K659R,L300V,L439V,M412V,P551H,S738T,V128F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2241 3077 sw2289;dbsnp4320;hgmd0613_2376 AT2A2_HUMAN;NP_733765.1 "G310V,G994A,I1022V" "1,0,0" 488 1890 sw228;dbsnp11786 LEG16_HUMAN;NP_001177370.1 "G106C,G86S,I31V,L26P,L97H,M123L,M73T,N138K,R55Q,R60H,R61H" "0,0,0,0,0,0,0,0,0,0,0" 148003 13578 sw2290 UD2B7_HUMAN "A71S,H268Y,N378S" "0,0,0" 7364 6125 sw2292;dbsnp12836 ANFB_HUMAN;NP_002512.1 "G33R,M93L,R133W,R25L,R47H,R72H,R91H,V94F" "0,0,0,0,0,0,0,0" 4879 14179 sw2293;sws252;dbsnp22388 CBPE_HUMAN;NP_001864.1 "A423V,A72V,E465G,I393V,N296S,Q279R,R283W,S270T,T313I,V200M,V380I,V437I,W235R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1363 7075 sw2294 IL7RA_HUMAN "I138V,T66I" "0,0" 3575 7409 sw2295;dbsnp7458;hgmd0613_971 PLCG2_HUMAN;NP_002652.2 "A308V,D883Y,E877D,H244R,H257L,I671V,L777V,M28L,M68L,N571S,P522R,R268W,S1042T,T541A,Y482H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5336 1181 sw2297;dbsnp4607 DBPA_HUMAN;NP_003642.3 "A219S,A219V,A352G,P280L,P280Q,Q231P,R220Q,R224C,R283Q,R327G,S318R,T286A,T75A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8531 9159 sw2298;dbsnp11598 ZNF14_HUMAN;NP_066358.2 "F178C,G175R,H215R,K242Q,N119S,P418R,Q239E,R157L,R323Q,R379Q,S117C,S292R,T274S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7561 4664 sw2299;dbsnp10918 ZN708_HUMAN;NP_067092.2 "A71V,A76S,C285Y,E117D,H438R,H554R,K113E,K122T,K523R,M77I,R130Q,R130W,R375P,S321A,S460F,T212M,T331S,T359P,V148D,Y336S,Y476C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7562 1203 sw229;dbsnp2399 MET12_HUMAN;NP_001036694.1 "A143T,G125S,H142L,R33H,R38W" "0,0,0,0,0" 751071 12114 sw2300;dbsnp27625;dbsnp27626 ZNF16_HUMAN;NP_008889.2;NP_001025147.2 "A357P,D135N,E105K,F158C,H286Y,L109V,L224V,P104L,Q648E,R227H,R627C,R7C,S303N,S306L,T512I,V510M,Y62S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7564 4250 sw2301;dbsnp11260 ZNF17_HUMAN;NP_008890.2 "I631V,N189D,Q184R,T148K" "0,0,0,0" 7565 3378 sw2302;dbsnp9866 ZNF18_HUMAN;NP_653281.2 "D122N,F425C,F476L,F67L,G380E,I273L,M240I,N278S,P147L,Q210R,S14L,S523L" "0,0,0,0,0,0,0,0,0,0,0,0" 7566 5851 sw2303;dbsnp7795 ZNF19_HUMAN;NP_008892.2 "A34S,C415G,D361H,G167E,I444V,N399S,Q218H,R224Q" "0,0,0,0,0,0,0,0" 7567 7432 sw2304;sws253;dbsnp466 ZNF22_HUMAN;NP_008894.2 "L208S,S65G,T162N" "0,0,0" 7570 2886 sw2305;dbsnp7493 ZNF23_HUMAN;NP_666016.1 "C338Y,E421D,F122L,F560S,G144A,G144V,K567N,S28G,S619T,T191P,T275M,Y280C,Y547S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7571 4657 sw2306;dbsnp10260 ZNF24_HUMAN;NP_008896.2 "G237V,G331W,N220S,P140L,T85M" "0,0,0,0,0" 7572 8825 sw2307;dbsnp27144 ZKSC1_HUMAN;NP_003430.1 "A202V,N274D,P201A,V163L,V26A,Y405C" "0,0,0,0,0,0" 7586 5630 sw2308;sws254;dbsnp185 ZNF25_HUMAN;NP_659448.1 "C431F,N453K,P229S,R76Q,S378Y" "0,0,0,0,0" 219749 5663 sw2309;dbsnp252;dbsnp253;dbsnp254 ZN37A_HUMAN;NP_003412.1;NP_001171572.1;NP_001007095.1 "A28T,D105N,D184N,E106D,E556K,E65D,E70Q,G296E,G351E,N94H,P382L,Y450C" "0,0,0,0,0,0,0,0,0,0,0,0" 7587 5663 sw230;dbsnp5192 SERP3_HUMAN;NP_001094790.1 "D143N,E230K,G317R" "0,0,0" 647174 8051 sw2310;dbsnp11742 ZNF28_HUMAN;NP_008900.3 "A539T,C217Y,D104G,E219Q,F392L,G121C,G281D,H481L,H565Y,H713R,K465Q,K92E,M524T,M54I,N169K,N705K,Q618E,R179G,R256Q,R374H,R403T,R571K,R589Q,R617H,S340A,S645N,T316I,T31N,T511I,T615I,Y422C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7576 2403 sw2311;dbsnp26565 ZNF3_HUMAN;NP_116313.3 "I102T,N441S,Q48R" "0,0,0" 7551 7651 sw2312;sws255;dbsnp12461 ZNF43_HUMAN;NP_003414.2 "E233K,E394G,E402D,G348R,H336R,I552V,K368R,K455E,K641N,K93T,L138S,P792H,R280H,R381W,S551L,S718P,S746F,T275I,T343K,W87C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7594 1203 sw2313;dbsnp10718 ZNF30_HUMAN;NP_919306.2 "A190T,F260L,G238W,K193R,Q123R,R379K,R448W,S24F,V621I,Y400C" "0,0,0,0,0,0,0,0,0,0" 90075 1857 sw2314 ZSC20_HUMAN "D248N,Y432D" "0,0" 7579 1926 sw2316;dbsnp12989 HSP76_HUMAN;NP_002146.2 "A150T,A159V,A375S,D154N,D234N,D562E,E194K,E532K,G341D,G447V,G459R,G77A,K350R,K528E,K528R,L198F,L488P,M572V,N153S,N170K,P178A,P470L,P65T,R173P,R260H,R271H,R471H,R577Q,R577W,R629H,R95Q,S464I,T297K,T300I,T626A,V105L,V197M,V336F,V339M,V440I,V521G,W92G,Y445C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3310 4658 sw2317;dbsnp27481 ZNF7_HUMAN;NP_003407.1 "A76V,G188R,L596F,L66F,R288C,R337H,R624C,S347L" "0,0,0,0,0,0,0,0" 7553 4201 sw2318;dbsnp17009 INAR1_HUMAN;NP_000620.2 "D39N,D43G,N243T,R124C,T289I,T359M,V168L,V307I,V420F" "0,0,0,0,0,0,0,0,0" 3454 5736 sw2319;spmut227;dbsnp16181 BPI_HUMAN;NP_001716.2 "A12T,A12V,A16V,A196V,A279T,A280V,A337T,A48T,D483H,E140Q,E216K,G481S,K308Q,K451E,M5R,N266S,N404D,P225T,P278S,P355S,R90C,V175M,V36I,V377I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 671 6885 sw231;dbsnp9261 CQ098_HUMAN;NP_001073934.1 "P61L,Q47R" "0,0" 388381 13829 sw2320;sws256 KPCA_HUMAN V568I 0 5578 4097 sw2321;dbsnp12721 JUNB_HUMAN;NP_002220.1 "L230V,S67G" "0,0" 3726 9732 sw2324 ASM_HUMAN S505G 0 6609 4781 sw2325 AK1C4_HUMAN "C170Y,G135E,L311V,Q250R,S145C" "0,0,0,0,0" 1109 10233 sw2326 JUND_HUMAN G20V 0 3727 9733 sw2327 CTRB1_HUMAN "D222H,T250A" "0,0" 1504 11599 sw2328;dbsnp11603 NDUB7_HUMAN;NP_004137.2 "G2W,H62Y,R106G,R111Q" "0,0,0,0" 4713 14131 sw232;dbsnp9506 KRA96_HUMAN;XP_003118799.1 "I89V,Q134L,S108T,V72L,Y51C,Y86C" "0,0,0,0,0,0" 100507608 11919 sw2331 CAN2_HUMAN D22E 0 824 3796 sw2334;dbsnp19906 NEUM_HUMAN;NP_002036.1 K162E 0 2596 11403 sw2337;dbsnp14195 PYRG1_HUMAN;NP_001896.2 "P426A,Q167H,S571I" "0,0,0" 1503 5256 sw2338;dbsnp28583 EGLN_HUMAN;NP_001108225.1 R623Q 0 2022 4501 sw2339;spmut489;dbsnp8690 DDX5_HUMAN;NP_004387.1 "E335D,G257V,R362K,S480A,V73A" "0,0,0,0,0" 1655 3776 sw233;sws6;dbsnp26538 HECA2_HUMAN;NP_001034461.1 "A179P,G410R,K86T,L183V,L204F,L362F,S428G,S428R,V122M" "0,0,0,0,0,0,0,0,0" 253012 7358 sw234 TM14D_HUMAN R108C 0 - 14484 sw2340;dbsnp16976 K6PL_HUMAN;NP_002617.3 "D237V,D705E,E515K,E688G,E738K,G81A,I158V,I189T,K696E,R151W,R246M,R269H,R737W,T636K,V717A,Y633H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5211 2897 sw2342 CR1_HUMAN H1850D 0 1378 245 sw2343;dbsnp5396 LEG3_HUMAN;NP_002297.2 "A53D,P64H,Q201H,R183K,T98P" "0,0,0,0,0" 3958 11909 sw2348;spmut933 IBP2_HUMAN A137D 0 3485 10263 sw235 KI3P1_HUMAN "E258D,K160T" "0,0" - 7486 sw2351;dbsnp21465 RL35A_HUMAN;NP_000987.2 "R89Q,V33I" "0,1" 6165 14533 sw2352;dbsnp20408 ITB5_HUMAN;NP_002204.2 "A194V,C49Y,E307K,E643D,E80Q,F790S,G478R,G492S,L428V,M109L,N306S,N477S,N791Y,R131H,R431Q,R525H,R58W,S432R,S435R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3693 3218 sw2353 ARF4_HUMAN V68A 0 378 5496 sw2354;dbsnp18892 ADA2B_HUMAN;NP_000673.2 "F68I,G211A,Q409H,R44C,V376I,V379G,V379I" "0,0,0,0,0,0,0" 151 7586 sw2355;dbsnp23681 EGR1_HUMAN;NP_001955.1 "E219D,F48L,N144K,S145R,S26P,T28I,T455A" "0,0,0,0,0,0,0" 1958 5942 sw2357;dbsnp6004 GPX2_HUMAN;NP_002074.2 "A37L,E112V,I176M,P126L,R146C" "0,0,0,0,0" 2877 12896 sw2358;dbsnp16246 LBP_HUMAN;NP_004130.2 "A164T,A240V,A384T,A445T,D208N,D283G,D36N,E147K,E167D,E199K,F436L,G249D,H294R,I364T,K439T,K454N,L125I,L144S,L339F,M242I,P333L,P344S,P9L,Q214R,R111P,R111Q,R119S,R327Q,R380W,S157C,S91T,T155S,V166M,V71I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3929 6981 sw2363 1B51_HUMAN W191G 0 3106 7735 sw2367;spmut1448;dbsnp10453;dbsnp10454 PACA_HUMAN;NP_001108.2;NP_001093203.1 "D46H,D54G,N89S" "0,0,0" 116 13431 sw2369;dbsnp9985 CNRG_HUMAN;NP_002593.1 "K25R,K39N,P27H" "0,0,0" 5148 14783 sw236;dbsnp26739 K132L_HUMAN;NP_001136221.1 "A479S,A479T,E424A,G472E,G754A,G888R,L729V,N539Y,P494L,Q308R,R4C,R605H,S614L,S746A,S767R,T432M,T506M,V753A,V790A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222223 1985 sw2370;dbsnp18568 ITB6_HUMAN;NP_000879.2 "A105V,A654V,D273E,E333G,G470R,G56D,H469N,N340T,P437T,R616P,T756M,V438M,V724L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3694 3300 sw2371 RHCE_HUMAN "A127V,G128D,H323P,H329D,H329R,I325S,I331N,L60I,N198K,P226A,R154T,S330Y,T182S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6006 8229 sw2372;dbsnp17084 SON_HUMAN;NP_620305.1 "A1005S,A1109V,A1290T,A1364T,A166V,A184V,A212S,A2363T,A336V,A51V,E1256G,E60A,H1528R,H527R,I1343L,I1467V,M1018L,M1472V,M1502I,M326I,M815L,M871V,N1488S,N180S,N2418I,P1203L,P358L,P473S,R1575C,S1032T,S1202L,S585L,T2163A,T555M,T694A,T870A,V1734M,Y1402C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6651 266 sw2373;dbsnp3379 LAG3_HUMAN;NP_002277.4 "A441T,E515G,G275D,I455T,I490F,L450R,P217L,R319Q,T310S,T332P,V251I" "0,0,0,0,0,0,0,0,0,0,0" 3902 6204 sw2374 SDC1_HUMAN "L136Q,T76M" "0,0" 6382 10649 sw2375;spmut166;dbsnp3704 ATF1_HUMAN;NP_005162.1 "M136I,M136K,P191A,Q129R" "0,0,0,0" 466 9383 sw2377;dbsnp17260;dbsnp17261 ATF4_HUMAN;NP_877962.1;NP_001666.2 "A324V,D104N,D110G,E266Q,E322D,I208M,P135L,P174A,P258A,P46L,Q133R,Q22P,S237F,T137S,T189A,V201I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 468 9624 sw2378;spmut168;dbsnp13274 ATF6A_HUMAN;NP_031374.2 "A145P,A259V,A278V,A654T,D109G,F20S,M67L,M67V,N50S,P157S,R357Q,S16I,T239A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 22926 4365 sw238 YH010_HUMAN T509R 0 642574 5088 sw2380;sws262 XRCC1_HUMAN "E157K,K298N,N576S,N576Y,P161L,P309S,P514L,R107H,R194W,R280H,R399Q,R559Q,R560W,R7L,S485Y,T304A,V10M,V72A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7515 4762 sw2381 K1C15_HUMAN "A421G,K416R,T147A" "0,0,0" 3866 6208 sw2383;dbsnp23209 AMD_HUMAN;NP_001170777.1 "D520E,D563G,E491D,F31Y,G917E,I554V,K664R,L468S,P192L,P521L,P860S,S539W,T493I,T904M,V244A,V351M,V49L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5066 2221 sw2384;dbsnp10339 CADH2_HUMAN;NP_001783.2 "A118T,A21T,D436N,E24Q,H50Y,H99R,I212L,N845S,P477L,R697H,S196T,S92G,T454A,T518A,T795P,V289I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1000 2517 sw2385;dbsnp3446 TSN8_HUMAN;NP_004607.1 "E192V,G235R,G44C,G44S,G49C,G73A,S213A,V209F,V209I,V35I,V54I" "0,0,0,0,0,0,0,0,0,0,0" 7103 12177 sw2386;dbsnp14004 GNAT2_HUMAN;NP_005263.1 "A143T,A5V,G104R,G117R,G183D,L107I,L353F,R86P,R86Q,V124M" "0,0,0,0,0,0,0,0,0,0" 2780 9547 sw2388;sws263;dbsnp6551 DCHS_HUMAN;NP_002103.2 "E644D,F553L,I494V,L91I,N100S,T31M,V119I" "0,0,0,0,0,0,0" 3067 4457 sw2389;dbsnp16097 PLCG1_HUMAN;NP_877963.1 "A1244T,D1075V,D914N,I1114T,I813T,I949T,P252T,P319L,Q146E,R1105L,S279G,S739T,T209N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5335 1181 sw2392;dbsnp13785 TNNI1_HUMAN;NP_003272.3 "A71T,R48C,R67W" "0,0,0" 7135 12737 sw2393;dbsnp15727 LFA3_HUMAN;NP_001770.1 "I237V,S15G,S30Y,T227I,V231L,V41I,Y119F" "0,0,0,0,0,0,0" 965 11910 sw2395;dbsnp18944 NUCL_HUMAN;NP_005372.2 "A174V,D201N,D242E,E196D,E209A,K116T,K63R,N308S,N374S,P122L,P68L,V227M" "0,0,0,0,0,0,0,0,0,0,0,0" 4691 3968 sw2397 RPAB1_HUMAN S44F 0 5434 12742 sw2398;dbsnp10325 NDUV2_HUMAN;NP_066552.2 "I172T,P108T,R143P,V134A,V29A,V40M" "0,0,0,0,0,0" 4729 11929 sw239;dbsnp11746 NUD19_HUMAN;NP_001099040.1 "L267I,R142Q,R43Q" "0,0,0" 390916 9089 sw23;dbsnp24100 IRGM_HUMAN;NP_001139277.1 "E17D,G60C,K27N,S51I,T94K" "0,0,0,0,0" 345611 13339 sw2404;spmut1811;dbsnp1997 RO52_HUMAN;NP_003132.2 "E231K,G96R,P52A,Q88K" "0,0,0,0" 6737 7102 sw2407;dbsnp30413 TFE3_HUMAN;NP_006512.2 "A484T,A484V,G480A,H437R,S308N,S96C,T313A" "0,0,0,0,0,0,0" 7030 5482 sw2409 HME2_HUMAN L121F 0 2020 10066 sw2410;dbsnp15899 SPEE_HUMAN;NP_003123.2 "E261K,L149V" "0,0" 6723 10812 sw2412;dbsnp28726 A1AG2_HUMAN;NP_000599.1 "C167R,D164N,F130C,F144V,G141R,H115D,L7F,L80V,M174V,R113Q,R38Q,T152S,V106I,V99A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5005 12935 sw2413;dbsnp8413 CSK22_HUMAN;NP_001887.1 "E188A,N63T" "0,0" 1459 8771 sw2415;dbsnp26049 ABP1_HUMAN;NP_001082.2 "D373N,H645D,K570R,M479I,N460S,N659H,R198H,S332F,T16M,V692M" "0,0,0,0,0,0,0,0,0,0" 26 3602 sw2416;dbsnp474 ITIH2_HUMAN;NP_002207.2 "E266Q,E881D,G385D,I396V,I871V,K571E,L569V,N263S,N467S,N801H,N921S,P674A,P724R,Q328R,R945Q,S347C,S60L,S668P,T5M,V177M,V555A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3698 2360 sw2417;dbsnp19894 ITIH1_HUMAN;NP_002206.2 "D844E,E445Q,E585V,G695C,H809Y,H846Y,H881R,M547V,M5T,P213L,P632L,Q595R,Q772L,R454W,R54Q,R586G,R65C,S263T,S300T,S343A,S363Y,V152I,V293M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3697 2549 sw2418;spmut1356;dbsnp22089 NFKB1_HUMAN;NP_001158884.1 "A901T,H711Q,I462T,I551V,L614F,M506V,R186Q,R533H,R578K,T489I,T566I,T943N,V476F,V476I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4790 2242 sw2419;dbsnp22822 CXCL3_HUMAN;NP_002081.2 "A84S,H3R" "0,0" 2921 14562 sw241;dbsnp27446 KCNU1_HUMAN;NP_001027006.2 "A911T,D175N,I230V,L1122I,N916S,P576T,R202H,R544L,S1070A,S665T,S953L,T671S,V52I,V78L,V976I,W768R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157855 1559 sw2422;dbsnp16300 ELAF_HUMAN;NP_002629.1 "A15T,K36N,T17M,T34P,V19I" "0,0,0,0,0" 5266 14437 sw2424 AT2B1_HUMAN M267R 0 490 1258 sw2426;dbsnp24474;dbsnp24475;dbsnp24476 DPA1_HUMAN;NP_001229454.1;NP_001229453.1;NP_291032.2 "A42M,A42P,A42S,A42T,A42V,A82T,A87S,E210D,E59D,F191I,F191L,F191V,K142R,L104A,L104F,L104S,L104V,L158P,L97S,M1T,M54T,M62K,M62L,M62Q,N100D,N99K,P127A,P145Q,P49T,Q81R,R107C,R255Q,R255W,T103I,T114A,T114P,T114S,T221A,T221M,T221P,T221S,T259P,V122M,V185M,W74C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3113 11700 sw2428;dbsnp16630 IF2B_HUMAN;NP_003899.2 "E177D,P165L,V183L" "0,0,0" 8894 10067 sw242;dbsnp8662 EVPLL_HUMAN;NP_001138599.1 "Q104E,R101C,S4N" "0,0,0" 645027 409 sw243 CO6A5_HUMAN D2175N 0 256076 211 sw2430;dbsnp17434 TCO2_HUMAN;NP_000346.2 "A410G,E262Q,F89L,G94S,I219L,I23V,K99T,L180P,L30R,L376S,M198T,P185L,R170Q,R208H,R215W,R227P,R227Q,R259P,R399Q,R413G,S348F,T333M,V175M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6948 8003 sw2431;dbsnp491 ANXA7_HUMAN;NP_004025.1 "D477H,M41V,P143H,P33L,R331H,R441Q,T474M,V160I,Y231C" "0,0,0,0,0,0,0,0,0" 310 6560 sw2432;spmut304;dbsnp11040 CD33_HUMAN;NP_001763.3 "A108T,A14V,A217T,A65P,D51N,E154K,E357K,F243L,F44S,G114R,G304R,H137R,H317Q,I242L,I242V,R202W,R62Q,R62W,R69G,R98K,S128N,S305P,S307F,T331A,V267I,V294L,W22R,Y127H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 945 7522 sw2433;dbsnp10744 KLK2_HUMAN;NP_005542.1 "A258P,A258T,C31Y,D255A,G52D,H108Q,N181S,Q22R,R167H,R250W,V18L,V18M" "0,0,0,0,0,0,0,0,0,0,0,0" 3817 11641 sw2434 CCNA2_HUMAN I163V 0 890 7908 sw2435;dbsnp11793 CD22_HUMAN;NP_001762.2 "A34T,A391T,D791N,D791Y,D97Y,E203K,E298K,G551R,G745D,Q152E,R201L,R201Q,R669C,R669H,R739G,R766L,S664G,V234L,V810I,Y639H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 933 2912 sw2437;dbsnp13287 TNR1B_HUMAN;NP_001057.1 "A127S,A236T,E232K,L264P,M196R,P301R,Q295R,R207W,S398P,T269P,V187M" "0,0,0,0,0,0,0,0,0,0,0" 7133 7386 sw2438;dbsnp19901 TRH_HUMAN;NP_009048.1 "E173K,L8V,P188L,R134W,R226W,R83H" "0,0,0,0,0,0" 7200 12073 sw2439;dbsnp22932 MSH3_HUMAN;NP_002430.3 "A1045T,A438V,D185G,E523K,F387Y,F709L,H827R,I672M,I764L,I79L,I79V,I914V,K508E,L911W,N524T,P681S,Q949R,R188C,R417W,R669W,S490Y,S606N,T1054A,Y465C,Y789C,Y789F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4437 1592 sw2440;spmut1299;dbsnp16935;dbsnp16936;dbsnp16937 MX1_HUMAN;NP_001171517.1;NP_002453.2;NP_001138397.1 "A151T,A381V,D478N,E514G,G316R,I599V,Q287E,Q423K,Q536H,Q611H,R265Q,R352S,R655H,S634T,V379I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4599 3923 sw2442;dbsnp24288 PSB1_HUMAN;NP_002784.1 "I208N,I50V,P11A" "0,0,0" 5689 12096 sw2443;dbsnp11503 ATP4A_HUMAN;NP_000695.2 "A104V,A170S,A170T,C323G,D194E,E547K,E99Q,G35R,H409R,H905N,H905Y,P240H,Q680L,R275C,R852H,S283L,S530N,T496P,V265A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 495 1921 sw2444;dbsnp23635 LMNB1_HUMAN;NP_005564.1 "A501V,K417N,P510L,R226C,S393N" "0,0,0,0,0" 4001 4433 sw2446;dbsnp7463 ITAX_HUMAN;NP_000878.2 "A1012V,A251T,A606T,A851T,C712R,E396A,E547K,E631K,F1010L,F201L,F971L,G772R,I1059T,I564V,N166K,N211T,P212S,P362L,P383L,P517R,R488Q,R550W,R685H,R750W,R997W,S902I,T1073M,T1093M,T123A,V1019M,W48R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3687 1518 sw2447 DDC_HUMAN "A275T,A91V,F309L,G102S,L408I,M17V,P47H,S147R,S250F" "1,1,1,1,1,0,1,1,1" 1644 7736 sw2448;dbsnp5426 GRAH_HUMAN;NP_219491.1 "D201H,I52V,P94A,R125W,R174C,R174G,R84P,R84Q,T184P" "0,0,0,0,0,0,0,0,0" 2999 11796 sw2449;sws267;dbsnp3738 PZP_HUMAN;NP_002855.2 "A1105V,A1467V,A78V,D4G,E748D,F380I,G1147E,I1064T,I1443N,I1452T,L379V,L778P,M965I,N857S,P711S,R1191C,R2Q,R829W,S1136T,S504C,T1003M,T1205P,T1235A,T254I,V1286I,V1298I,V130G,V691M,V813A,W864R,Y454S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5858 856 sw244;dbsnp23314 AHRR_HUMAN;NP_001229341.1 "A274V,A568V,C227S,D627H,G373V,H481Y,L114P,L147Q,P189A,P459L,P459R,P580A,P691L,R435C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57491 3891 sw245 FR1L4_HUMAN "K1179E,N1183S,V1318I" "0,0,0" - 565 sw2450;dbsnp3616 NTF3_HUMAN;NP_002518.1 "D54N,G76E" "0,0" 4908 11493 sw2451;sws268;spmut1167;dbsnp24377 MAK_HUMAN;NP_005897.1 "D329E,E469K,F550L,G13S,G27R,G426D,I181T,I189V,I547T,N130H,N384S,P225R,P325L,P520S,R166H,R237C,R395L,V461A" "0,0,0,1,1,0,1,0,0,1,0,0,0,0,1,0,0,0" 4117 4611 sw2452;dbsnp14479 EDN2_HUMAN;NP_001947.1 "A12V,A34V,E167Q,F131L,P168L,S151Y,T133A,V60I" "0,0,0,0,0,0,0,0" 1907 13392 sw2454;dbsnp11636 IL11_HUMAN;NP_000632.1 "R112H,V108M" "0,0" 3589 12973 sw2455 ICAL_HUMAN E592G 0 831 3613 sw2459;dbsnp12822 EFNA1_HUMAN;NP_004419.2 "D159V,E172K,H40Q,R174Q,R33W" "0,0,0,0,0" 1942 12849 sw2460;dbsnp26920 IMDH1_HUMAN;NP_001136045.1 "G324D,V268I" "0,1" 3614 5143 sw2461;dbsnp24381 CO9A1_HUMAN;NP_001842.3 "D518V,D862A,E450G,E512K,E671K,E684K,G302S,G475S,G520R,M767V,P19L,P396T,P398S,P747R,P824T,Q621R,Q750R,Q812H,R27H,R377H,R545H,R870K,S339P,V882L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1297 2490 sw2462;dbsnp15181;dbsnp15183;dbsnp15184 C4BPB_HUMAN;NP_000707.1;NP_001017367.1;NP_001017365.1 "K102Q,K199T,N71Y,P198S,T232A,V174M,V87G" "0,0,0,0,0,0,0" 725 11863 sw2463;dbsnp11380 CP2A7_HUMAN;NP_000755.2 "A117V,A133P,A13T,A301G,C64R,D169E,D246H,F392Y,F61I,H274R,H357Q,I268M,I331T,K239Q,K32N,K420M,K476R,L128R,M204V,M368T,M489V,N167K,N438Y,P233Q,Q265R,R311C,R311H,R339P,R346W,R372H,R381W,S153A,S225L,S294T,T134N,T212M,T295M,T347A,T347S,V398M,V456I,V479G,V87I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1549 6755 sw2465;dbsnp11852 MAG_HUMAN;NP_002352.1 "A151V,D314E,I137V,L202M,N553H,R425Q,R537C,R77H,S600L,T368M,T5M,V433L" "0,0,0,0,0,0,0,0,0,0,0,0" 4099 4831 sw2466 NEBU_HUMAN "T146A,V2952G" "0,0" 4703 3 sw2467;dbsnp13519 FILA_HUMAN;NP_002007.1 "A1025P,A1025T,A1167G,A1427T,A1805V,A1997T,A2076T,A2108V,A2263T,A2427S,A3189P,A325V,A3372T,A4029V,D1000E,D1092A,D1223G,D1484E,D1708N,D2015E,D2195V,D2218N,D2339N,D2572E,D2601N,D2612G,D26N,D2781Y,D2866V,D2936G,D3190N,D340E,D340H,D3584N,D3908N,D479E,D50G,D781G,D781H,D836E,E1147G,E1239A,E1277Q,E1795K,E2074Q,E2133D,E2250K,E2250Q,E2273K,E2398Q,E2768D,E2844D,E2898Q,E2976D,E3593D,E3694Q,E3874D,E498D,E665K,E755K,F1311S,G1062R,G1202R,G1253E,G1414R,G1432R,G1494W,G1569S,G1591V,G1696S,G1936R,G1966S,G2025R,G2112E,G2202S,G2387E,G2489V,G2545R,G2550V,G2593A,G2756R,G2850S,G2917V,G2960S,G3088R,G3241V,G3250S,G3263S,G332V,G3381E,G3436A,G3447E,G3496E,G3498S,G3522C,G3522S,G3557A,G3587S,G3686A,G3733V,G3760A,G3771V,G3827W,G3846S,G3987S,G419S,G441E,G444R,G525R,G610R,G691E,G726R,G728R,G837S,G905S,G929V,G935A,G994S,H1124Q,H1265R,H1312Q,H1339N,H1387Y,H1816Q,H1880N,H1961Q,H2068Q,H2209R,H2333R,H2463D,H2477Y,H2507Q,H2657R,H2981R,H3239Q,H3332Q,H3393R,H3415Y,H3437Q,H3505R,H3582Q,H3630Y,H3739Y,H3761Q,H3801L,H3801R,H3941R,H519N,H664Q,H727Q,H980D,I1118L,I2022T,I2346N,I2346T,I3191S,I3318T,I3642T,K16N,K2064Q,K2073R,K2192Q,K2444E,K679Q,K801E,L1943H,L2011I,L2224Q,L2481S,L2923R,N132S,N133D,N1397D,N1475K,N1913H,N1913S,N2695S,N3019S,N969T,N969Y,P1908S,P2144S,P2144T,P2557S,P3298A,P3319L,P3319R,P3762T,P478S,P95L,Q1408K,Q1525E,Q1748K,Q1873K,Q1914R,Q1925E,Q1949E,Q2069K,Q2154H,Q2274K,Q2574E,Q2625K,Q2718R,Q2887P,Q3308L,Q3512R,Q3568E,Q3568R,Q3735E,Q561H,Q570E,Q607E,Q650R,Q746K,Q760H,R1113H,R1140Q,R1150L,R1154W,R1203S,R1231M,R1236C,R1278G,R1299Q,R1360H,R1376G,R1437C,R1469H,R1511S,R1560C,R1610Q,R1634T,R1656H,R1684H,R1699C,R1798G,R1798Q,R1856C,R1856H,R1884H,R1891Q,R1891W,R1980H,R2077C,R2239Q,R2276T,R2283T,R2410C,R2430W,R2518G,R2540Q,R2766H,R2829H,R2883T,R2886C,R2913I,R3181H,R3207T,R3248T,R3270C,R3270H,R3331G,R3375W,R3402Q,R3443K,R3490C,R3517I,R3530S,R3564H,R3564L,R3726W,R3738H,R3814C,R3829C,R3829H,R3858H,R3892W,R3947C,R402H,R457W,R484W,R501Q,R683C,R711C,R788Q,R789H,R850G,R863S,R897C,R912C,R941C,R971H,S1002Y,S1184L,S1196N,S1207Y,S1297Y,S1298A,S1318G,S1352R,S1390Y,S1482Y,S1587R,S1750F,S1785R,S1836A,S1878T,S1906A,S1986T,S2020A,S2045T,S2083R,S2102P,S2152Y,S2208L,S2363Y,S2366T,S2568R,S2668A,S2715P,S2836R,S2881T,S2892R,S2992A,S3160C,S3160R,S3174G,S3324L,S3371F,S3396P,S3421N,S3427Y,S3502P,S3558P,S356L,S3606F,S3662T,S3695F,S3720P,S3751Y,S3861T,S3932G,S3935P,S3970L,S535P,S597R,S742Y,S750N,S787F,S805F,S820Y,S829F,S847T,S936P,S978L,S978P,T1134A,T1488N,T1523I,T2559K,T2755M,T2863N,T3187S,T3352R,T3579A,T3696A,T4030K,T454A,T581S,T725I,T938R,V1576E,V1833I,V2418M,V2549A,V2874G,V3179G,V3454A,V603M,V816G,W1106L,W1106R,W1947G,W1947R,W3503G,Y1517S,Y1829C,Y2119H,Y2194H,Y257D,Y257F,Y3105D,Y3124F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2312 75 sw246;spmut1305;dbsnp26177 MYO1G_HUMAN;NP_149043.2 "E218G,E304K,E305Q,G679R,H678N,M489T,P403L,P7S,Q861R,R152H,R260K,R516Q,R619H,R646G,R69H,R74Q,R798Q,R906Q,R92Q,T567A,V467M,V49M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64005 2033 sw2470 PRPS3_HUMAN E279D 0 221823 10386 sw2471 CD11B_HUMAN "A670V,G506S,I463V,K641N,L601Q,R109C,R201W,R57C,R93W,S414L,V452A" "0,0,0,0,0,0,0,0,0,0,0" 984 3248 sw2472;spmut596;dbsnp3263 ENDOU_HUMAN;NP_001165910.1 "A201V,A78D,C40R,C90R,D126E,D228E,D330N,E72Q,E72V,H300D,I350V,K192T,L270H,R180C,R211Q,R34W,R93H,S85L,V11M,V189I,V314D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8909 8377 sw2475;dbsnp13976;dbsnp13977;dbsnp13978 CSRP1_HUMAN;NP_004069.1;NP_001180500.1;NP_001180501.1 "K108I,N28D,N28Y,Q111L" "0,0,0,0" 1465 13090 sw2476;dbsnp29677 FLNA_HUMAN;NP_001104026.1 "E1803K,F370L,V320A,V552A" "0,0,0,0" 2316 186 sw2477;sws271;dbsnp8952 NF1_HUMAN;NP_001035957.1 "A330T,A74D,A776T,H393D,H393L,H712R,K1430E,K583R,L604V,Q519P,R160T,R765H,R873C" "0,0,0,0,0,0,1,1,1,0,1,0,0" 4763 169 sw247;dbsnp131 HACD1_HUMAN;NP_055056.3 "E64K,E64Q,H227Y,T25R,V70F,Y249C" "0,0,0,0,0,0" 9200 11135 sw248 TSPOB_HUMAN H53R 0 706 13556 sw2480;dbsnp25932 MDR3_HUMAN;NP_061337.1 "D87E,E450G,G742S,I263V,I367V,P95S,T175A" "0,0,0,0,0,0,0" 5244 1192 sw2481;dbsnp293 NK2R_HUMAN;NP_001048.2 "A161S,A161T,A47T,D5G,F214S,G231E,H395R,I23T,M245K,M301T,P376S,P376T,R315C,R323H,R375H,S218T,S30N,T193M,T251A,T346M,T363A,T49M,Y100S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6865 7291 sw2482;spmut1851;dbsnp14321 S1PR1_HUMAN;NP_001391.2 "A115T,A11D,I45T,P332R,R13G,R238C,R342P,R342Q,S15L" "0,0,0,0,0,0,0,0,0" 1901 8935 sw2483;dbsnp10991;dbsnp10992 FPR1_HUMAN;NP_002020.1;NP_001180235.1 "A225V,E346A,I11T,I147T,I203V,N192K,P187S,R163H,R190W,R269H,T9M,V101L" "0,0,0,0,0,0,0,0,0,0,0,0" 2357 9595 sw2484;dbsnp4099 ZNF10_HUMAN;NP_056209.2 "D137N,G258S,H84P,Q135L,Q227R" "0,0,0,0,0" 7556 5514 sw2486;spmut2176;dbsnp24730 TNAP3_HUMAN;NP_006281.1 "A125V,A545V,A766P,F127C,M788I,N102S,P752S,R280W,R706Q,T129M,T647P" "0,0,0,0,0,0,0,0,0,0,0" 7128 3284 sw2488;dbsnp24713;hgmd0613_956 5NTD_HUMAN;NP_002517.1 "C358Y,E491K,L228F,M379K,M379R,M379T,N403H,R234S,R401C,R401P,S269P,T376A,T530A,V278I" "1,0,0,0,0,0,0,0,0,0,0,0,0,0" 4907 5495 sw2489;sws273;spmut2095;dbsnp30204 TAF1_HUMAN;NP_620278.1 "A297G,C1182Y,L269V,M691I,Q276L,R493W,T11I,V1383I" "0,0,0,0,0,0,0,0" 6872 493 sw2490;dbsnp3707 GPDA_HUMAN;NP_005267.2 "A113P,A239T,D33N,E124K,G121R,I236T,I45T,I54V,M144T,M1V,N127I,N127S,R139H,R229W,R271Q,R304Q,T223I,V197A,V79G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2819 9620 sw2491;sws274;dbsnp26428 EPHA1_HUMAN;NP_005223.4 "A585T,C969R,E716K,G558A,G828V,K764T,L968P,L99M,M900V,N84S,P382A,P683L,P697L,Q100H,R178H,R261W,R351C,R471Q,R471W,R473Q,R492Q,R575Q,R617Q,R791H,R94H,R966H,S807R,T959I,V160A,V257G,V691I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2041 2200 sw2493 C5AR_HUMAN "D2N,K279N" "0,0" 728 9647 sw2495;dbsnp26240 ZP3_HUMAN;NP_001103824.1 "A183T,D88Y,E377G,G243S,G31R,G325S,H338R,L81P,M340V,P221R,P293R,R371S,S113N,S315P,V392I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7784 8055 sw249;dbsnp13015 FHAD1_HUMAN;NP_443161.1 "A1167V,A3S,A767V,A8T,D1133N,D1288N,D180N,D36N,D402V,D964G,D964N,E1344K,E763K,E919G,E956G,G651R,G683R,G917R,I1325V,I1339T,I356M,I922V,K295R,K2N,M1262V,P1201L,P99L,Q1362R,R1160Q,R1319G,R1355S,R182H,R665Q,R709Q,R826H,R896Q,S1381T,V1068I,V252I,V605M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114827 962 sw25 ANO9_HUMAN "C399R,F93L,I391V" "0,0,0" 338440 3338 sw2501;dbsnp29157 CD72_HUMAN;NP_001773.1 "L337P,P234L,Q314K,R317G,T128R,V50L" "0,0,0,0,0,0" 971 9445 sw2502;sws277;spmut619;dbsnp3371 ERBB3_HUMAN;NP_001973.2 "A1131T,D73N,D73Y,E1019D,G1271S,H157Y,I744T,K998R,L1177I,M1055I,N385S,P30L,R1077W,R1127H,R1265P,R683W,S1097P,S1119C,S20Y,S717L,T1024N,T1254K,T1342M,T204I,V285I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2065 1077 sw2504 DRD4_HUMAN "G332S,P329A" "0,0" 1815 7252 sw2507;dbsnp17256;dbsnp17258;dbsnp17259;hgmd0613_487 COMT_HUMAN;NP_000745.1;NP_001128634.1;NP_001128633.1 "A102T,A146V,A72S,C34S,D94N,I141V,P143R,P199L,R234C,V158M" "0,0,0,0,0,0,0,0,0,0" 1312 11455 sw2509;dbsnp25126 BMP5_HUMAN;NP_066551.1 "A74V,E47K,F209L,H2Y,I127K,N121S,N319S,Y443H" "0,0,0,0,0,0,0,0" 653 6426 sw2510;sws279;dbsnp25157 BMP6_HUMAN;NP_001709.1 "A343V,N450S,R257C,R257H,V394M" "0,0,0,0,0" 654 6426 sw2514;dbsnp1860 FUT4_HUMAN;NP_002024.1 "D516E,I255V,I496L" "0,0,0" 2526 6124 sw2515;dbsnp16896;dbsnp16897;dbsnp16899 PUR2_HUMAN;NP_001129477.1;NP_001129478.1;NP_000810.1 "A161G,A632V,C93F,C93S,D318N,D510G,D752G,D879N,E177D,E804A,I782T,L21F,L365V,M577T,M785R,P641A,T16M,V421F,V421I,V631M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2618 2068 sw2516 TENX_HUMAN "L4033I,P2425H,S825A" "0,0,0" 7148 66 sw2518;spmut1669;dbsnp22230;dbsnp22232 PUR6_HUMAN;NP_006443.1;NP_001072992.1 "K201N,K36R,N135S,P306S,P355S,S141C" "0,0,0,0,0,0" 10606 7916 sw251;dbsnp16329 ISM1_HUMAN;NP_543016.1 "L105F,P193R,S102P" "0,0,0" 140862 7318 sw2525 GPX3_HUMAN F128L 0 2878 12410 sw2527;sws282;spmut699;dbsnp23043;dbsnp23044 FGFR4_HUMAN;NP_002002.3;NP_998812.1 "D516N,G388R,G426S,G769R,I200V,L787M,P136L,P583L,R183H,R2Q,R437H,R529Q,R723H,R758C,R85H,S275R,S429R,S591F,T179A,V10I,V550M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2264 2880 sw2529;dbsnp2710 GALA_HUMAN;NP_057057.2 "A16V,E121K,N85D,R122W" "0,0,0,0" 51083 14353 sw252;dbsnp14593 WDR64_HUMAN;NP_653226.4 "A41V,A663V,D54G,D85N,D89H,F905L,H606Y,I1029M,I1079M,K357N,N300D,N82D,N898S,P1080L,P316T,R1052H,R225Q,R348Q,R553C,R647Q,R8S,R952L,R952W,S265T,V597A,Y946H,Y993H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128025 1780 sw253 F220P_HUMAN "K199N,K203N,W162R" "0,0,0" - 11453 sw2530;dbsnp24310 H1T_HUMAN;NP_005314.2 "A147V,A69T,E50G,G26E,I48V,K154Q,K155T,K169R,L52F,P156S,P40L,Q178K,S166R,T149A,V14L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3010 12409 sw2531;dbsnp14039 SPR1B_HUMAN;NP_003116.2 "A80P,P13L,Q23H,T11I,V61L" "0,0,0,0,0" 6699 13560 sw2532;dbsnp13498 SPR2D_HUMAN;NP_008876.3 "T20A,V57G" "0,0" 6703 14865 sw2534;dbsnp8652 ADRO_HUMAN;NP_077728.2 "A427S,G213V,G418S,K376R,L444R,P248L,P352S,P372L,P475S,Q40H,R123Q,R251W,R301C,R365C,R401K,R451W,R487C,R7L,T345M,T472A,Y362C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2232 6080 sw2536;dbsnp28770 KAPCG_HUMAN;NP_002723.2 "A35T,D324G,E13Q,F239L,H268D,I251N,K309R,Q150L,V80A" "0,0,0,0,0,0,0,0,0" 5568 8633 sw2537;dbsnp11479 RFX1_HUMAN;NP_002909.4 "A183T,A349V,D590N,G827S,K545R,L270P,M623V,P559S,T370A" "0,0,0,0,0,0,0,0,0" 5989 2186 sw2538;dbsnp23676 CCNO_HUMAN;NP_066970.3 "A202V,E314K,G229S,G264R,L161M,M334I,P336L,P45H,R36H" "0,0,0,0,0,0,0,0,0" 10309 9651 sw2539;dbsnp27792 CP7A1_HUMAN;NP_000771.2 "A13V,D347N,E313K,F100S,G377S,H86N,N233S,N36K,P398A,R250M,R260L,R364W,T193I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1581 6577 sw254 ZN487_HUMAN "P61R,R120S" "0,0" 642819 7623 sw2541 IBP4_HUMAN V42G 0 3487 11741 sw2542;dbsnp15828 KAPCB_HUMAN;NP_002722.1 "R106Q,T300M" "0,0" 5567 8633 sw2543;sws285;dbsnp7271;hgmd0613_1058 QCR2_HUMAN;NP_003357.2 "A114T,A427V,K352R,Q318P,R127Q,R148S,R183Q,R254H" "0,0,0,0,0,0,0,0" 7385 7523 sw2545;dbsnp3625;dbsnp3626 NR4A1_HUMAN;NP_002126.2;NP_775180.1 "A329V,I512M,L26V,P186S,R256W,S137L,S79Y" "0,0,0,0,0,0,0" 3164 5014 sw2547;dbsnp18012 GNLY_HUMAN;NP_006424.2 "A2V,E39G,K82T,L70P,R64C,T119I,T3I" "0,0,0,0,0,0,0" 10578 14010 sw2548;dbsnp20233 AAAD_HUMAN;NP_001077.2 "D325N,M1T,N37K,V172I,V281I" "0,0,0,0,0" 13 8562 sw2549 CPN2_HUMAN "A305T,Q509R,V536M" "0,0,0" 1370 5912 sw2553;dbsnp1801 MMP8_HUMAN;NP_002415.1 "D193V,D286G,E81K,G154E,K460T,K87E,L310P,N177S,N246Y,N463D,Q429E,R118Q,R306S,S229Y,S3C,T32I,T6M,V374I,V436A,V60I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4317 7253 sw2554;dbsnp987 MRC1_HUMAN;NP_002429.1 "D357V,G396S,L407F,R378G,R596Q,T167I,T389A,T399A" "0,0,0,0,0,0,0,0" 4360 892 sw2557;spmut640;dbsnp7591 EST1_HUMAN;NP_001020365.1 "A156T,A269S,C87F,D203E,G143E,G147C,G190C,H284Q,I432T,I49V,L11I,L192P,M379V,P85L,R186P,R199H,S12A,S75N,S82L,T167S,V496M,Y366C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1066 5578 sw2558 FBLN1_HUMAN Q141R 0 2192 4049 sw255;dbsnp29904 CX064_HUMAN;NP_001116188.1 "L115V,M193T,V109I" "0,0,0" 100130613 10909 sw2560;dbsnp8574 TBG1_HUMAN;NP_001061.2 "D49N,M413V,R440W" "0,0,0" 7283 7573 sw2562;dbsnp13719 CAH6_HUMAN;NP_001206.2 "G70A,H294R,M68L,Q37L,Q45H,R255S,R58W,S90G,T55M,Y189H" "0,0,0,0,0,0,0,0,0,0" 765 10685 sw2564;dbsnp11554 SRCH_HUMAN;NP_002143.1 "A10T,D186H,D226N,D251Y,D252Y,D323G,E51K,E603K,E698Q,E98K,G453S,G48R,G493S,H290D,L434F,N305D,P24L,Q322E,Q322R,R217Q,R514W,R88C,S294R,S358P,S43N,S563N,S602R,S96A,V169M,V329D,V672I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3270 4079 sw2566;spmut1170;dbsnp10308 MAOM_HUMAN;NP_002387.1 "G450E,I210T,I302V,I358V,K346R,N321H,P114L,P364A,Q425R,R248Q,T429M" "0,0,0,0,0,0,0,0,0,0,0" 4200 5092 sw2568;sws288;dbsnp5576;dbsnp5577 SYWC_HUMAN;NP_776049.1;NP_004175.2 "A433T,A52S,A54S,A54V,D273N,E385D,E79V,G391V,L9V,P330L" "0,0,0,0,0,0,0,0,0,0" 7453 7178 sw256;dbsnp27307 R10B2_HUMAN;NP_001093167.1 "E836K,H499Y,T148M" "0,0,0" 728194 2771 sw2571;dbsnp7798 GCSH_HUMAN;NP_004474.2 "N73S,S21L" "0,0" 2653 13483 sw2572;sws289;spmut1090;dbsnp10160 KS6B1_HUMAN;NP_003152.1 "D37N,M225I,R272C,S398A,W276C" "0,0,0,0,0" 6198 6205 sw2573;dbsnp14931 JAK1_HUMAN;NP_002218.2 "A701V,L721I,N973K" "0,0,0" 3716 1539 sw2574;dbsnp3666 PTPRB_HUMAN;NP_002828.3 H4R 0 5787 333 sw2575;sws290;spmut1662;dbsnp28612 PTPRD_HUMAN;NP_002830.1 "A722S,A975P,D1486V,E1078D,E1776V,G851E,H1843Q,H833R,L840F,P242L,P845S,P867L,P941A,Q447E,R1536H,R584H,R828W,R857H,R862L,R862P,R995C,S1845R,T781A,T919N,T978A,V1073I,V4G,V892A,Y582C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5789 453 sw2576;dbsnp20417 PTPRG_HUMAN;NP_002832.3 "C751F,D215G,G523S,G574S,G838S,H1241R,I1431T,L21F,M701V,P208L,Q639R,R1191Q,R323C,R776C,S1134N,T536M,V1088I,Y92H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5793 907 sw2577;dbsnp25992 PTPRZ_HUMAN;NP_002842.2 "A1578S,A2115V,A441T,D1384N,D804N,E430K,E909G,G1346D,G1425D,G1433D,G440D,G606E,H1373L,H1440R,H361R,I1376V,I3S,I470L,K1080Q,L1006V,L1273F,L44P,Q1281K,Q1839R,R1889C,R6L,S1478T,S1606A,S1948G,S600A,S975L,T187A,T463I,V1024L,V1830M,V1931I,V1945A,V2254G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5803 300 sw2578;dbsnp14225 LORI_HUMAN;NP_000418.2 "S285F,S29G" "0,0" 4014 10606 sw257;dbsnp6598 MYO9A_HUMAN;NP_008832.2 "A825V,D1245G,D1698G,D588H,D872E,E2152K,E525V,E765D,G1193E,G1767E,H1795Y,H1805D,H1805Q,I2083T,I2390V,K1141N,L211P,M1512T,M2384V,M712I,M741V,N1631I,N168D,N2504T,N979D,P1476R,P1476S,P1704S,Q1247R,Q792P,R104H,R1086C,R1086H,R1098P,R1109K,R126W,R133M,R1517C,R1517H,R1834C,R2283H,R37K,R771W,R85Q,R946Q,S1076N,S1362P,S1971L,S2313R,S830N,S99T,T161I,V1067M,V492M,W1702R,Y589H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4649 228 sw2580;sws291 CRCM_HUMAN "K190R,R267L,S490L" "0,1,1" 4163 2031 sw2583;spmut211;dbsnp1277;dbsnp1278;dbsnp1279;dbsnp1281;dbsnp1282;dbsnp1283;dbsnp1285;dbsnp1286;dbsnp1287;dbsnp1288;dbsnp1291;dbsnp1292;dbsnp1293 BDNF_HUMAN;NP_733931.1;NP_001137288.1;NP_001137286.1;NP_733928.1;NP_733929.1;NP_001700.2;NP_001137277.1;NP_001137278.1;NP_001137279.1;NP_001137280.1;NP_001137283.1;NP_001137284.1;NP_001137285.1 "Q75H,R125M,R127L,T2I,V66M" "0,0,0,1,0" 627 10174 sw2584;dbsnp17968 ANFC_HUMAN;NP_077720.1 "A83E,R82Q" "0,0" 4880 14309 sw2585;dbsnp3546;dbsnp3547;dbsnp3548;dbsnp3549 DGKA_HUMAN;NP_963848.1;NP_001336.2;NP_958853.1;NP_958852.1 "H538Y,I521V,I539S,K137R,N347K,N591H,N97S,Q391H,T296A" "0,0,0,0,0,0,0,0,0" 1606 3278 sw2587;dbsnp20434;dbsnp20435;hgmd0613_2180 GATA2_HUMAN;NP_116027.2;NP_001139133.1 "A164T,C373R,P161A,P254L,P41A,R361P,R398W,S277G,S425L,T235N,T354M" "0,1,0,1,0,1,1,0,0,0,1" 2624 7002 sw258;dbsnp10493 POTEC_HUMAN;NP_001131143.1 "A10T,A13T,C221R,C72Y,F28C,H30P,H66R,H86D,K36R,K506Q,M166I,P153L,R145K,S337C,T3A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388468 1801 sw2590;dbsnp1842 RIR1_HUMAN;NP_001024.1 "I159F,K590Q,M655T,R497H,R6Q,V778A,Y404H,Y404N" "0,0,0,0,0,0,0,0" 6240 3270 sw2591 PRPH2_HUMAN "E304Q,G338D,K310R,P313L,R13W" "0,0,0,0,1" 5961 9754 sw2592 FSHR_HUMAN F591S 1 2492 4077 sw2593;dbsnp5400 CMA1_HUMAN;NP_001827.1 "G153C,G46R,H66R,K200R,M170T,P157Q,P226S,R151K,R33C,R98H,V165A,V217I" "0,0,0,0,0,0,0,0,0,0,0,0" 1215 11796 sw2595 IL32_HUMAN D152N 0 9235 12253 sw2596;sws294 LAMA2_HUMAN "A1945T,A2587V,E2614K,Y240H,Y2586H" "0,0,0,0,0" 3908 132 sw2597;dbsnp24562 GBRR1_HUMAN;NP_002033.2 "H27R,K151Q,M26V,N407K,R393C,R63Q,S70L" "0,0,0,0,0,0,0" 2569 6854 sw2599;dbsnp10881 PRTN3_HUMAN;NP_002768.3 "A135T,G149S,H185L,R249H,R4Q,S125G,T136S,V119I" "0,0,0,0,0,0,0,0" 5657 11536 sw259;dbsnp1891 KDM4E_HUMAN;NP_001155102.1 "A244S,A26T,F258S,I341T,M59L,N503D,P110L,Q113R,Q42R,R100C,R323C,R323H,R478H,S452G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390245 1727 sw2600;dbsnp27442 ALAT1_HUMAN;NP_005300.1 "A11E,A36T,E430Q,G226C,H14N,P148S,P59L,R107K,R142K,R143H,R266G,R323G,R442H,R65H,R83H,R8Q,V452L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2875 6245 sw2601;sws295;dbsnp17379 MMP11_HUMAN;NP_005931.2 "A38V,E44K,F182S,P59L,P61H,P61L,P78S,R127Q,R76K,S246N,S86P" "0,0,0,0,0,0,0,0,0,0,0" 4320 6867 sw2604;dbsnp26217 CP3A7_HUMAN;NP_000756.2 "E258G,F203L,G190A,I246V,L32V,L353M,L401P,R409T,S192N,T310K,T310M,V71A,W12L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1551 6065 sw2606;dbsnp13378 AT5F1_HUMAN;NP_001679.2 "A177T,H35R,I150V,I84V,Q161K,T152M,T152N,V78I" "0,0,0,0,0,0,0,0" 515 11781 sw2607;sws296 THAS_HUMAN "D160E,E388K,L357V,L512P,L70P,L70V,V124I" "0,0,0,0,0,0,0" 6916 5417 sw2608;spmut77;dbsnp5555 AKAP5_HUMAN;NP_004848.3 "E314K,G379R,N12K,P100L,R188Q,S205F,S332C,T203I" "0,0,0,0,0,0,0,0" 9495 8000 sw2609;dbsnp3966 IBP6_HUMAN;NP_002169.1 "Q205H,R108S,R128G,R134L,R217L,R217Q,T236P" "0,0,0,0,0,0,0" 3489 12118 sw260;dbsnp2558 BTBDI_HUMAN;NP_001138573.1 "E352G,E482K,I511T,P510A,R209K,R232T,S202P,S253C,S302T,T598S" "0,0,0,0,0,0,0,0,0,0" 643376 3945 sw261 FM25A_HUMAN V35L 0 644054 14760 sw2611;spmut1596;dbsnp18258 PPAC_HUMAN;NP_004291.1 "K7N,Q106R,Q61L,Q61R,R59Q,R76Q,S137F" "0,0,0,0,0,0,0" 52 13761 sw2612;sws297;dbsnp5475 KPCL_HUMAN;NP_006246.2 "A19V,D497Y,D645V,I358T,K65R,N412S,P612S,R149Q,R359Q,R373T,R405K,T575A,V374I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5583 4244 sw2614;dbsnp28376 TENA_HUMAN;NP_002151.2 "A1096T,A110S,A1781T,A981T,D118E,D277N,D433N,D736G,D850H,E1466K,E2008Q,E2071K,E21K,F1286S,G145V,G171R,G1759R,G1784D,G1872A,G210S,G213S,G261S,G540R,G545V,H1494R,I1515V,I1677L,I874V,L1247I,L1626P,N2161S,N441S,P1321L,Q1899H,Q539R,Q680R,Q945K,R1066C,R1066H,R108H,R1118Q,R1422Q,R1698P,R1698Q,R1911W,R2077W,R30W,R33Q,R448G,R503K,R572H,R648Q,R648W,S1125R,S1725L,S62Y,S881A,T1303M,T1562M,T1937I,T1937S,V1173A,V1264A,V1415I,V1773M,V2167I,V370L,V37M,V548M,V605I,Y1424D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3371 342 sw2616;dbsnp11414 CP2F1_HUMAN;NP_000765.2 "D218N,D286G,D50H,L391P,L448V,M444L,N203S,N237I,N479H,P490L,Q266H,R433H,R482W,R489H,R74Q,R98P,S38P,T302M,T375M,V175G,V175L,V324L,Y217C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1572 6755 sw2617;spmut1819 RPB1_HUMAN R292C 0 5430 442 sw2619;dbsnp24136 HRH2_HUMAN;NP_071640.1 "A2T,K231R,N217D,N266S,V268M" "0,0,0,0,0" 3274 8652 sw2621;dbsnp18425;dbsnp18426 CXCR2_HUMAN;NP_001548.1;NP_001161770.1 "A241T,G79S,M6R,R153H,R236C,R248Q,R294Q,R80C" "0,0,0,0,0,0,0,0" 3579 9411 sw2623 CD24_HUMAN "A57V,T44S" "0,0" 100133941 14822 sw2625;sws300;dbsnp3571;hgmd0613_1286 GUC2C_HUMAN;NP_004954.2 "A48G,C30R,D387G,E610K,E818Q,F281L,G926R,I741L,I859V,N342H,N521S,N689K,P17T,Q1045R,Q784K,R114Q,R319Q,R427W,R464L,R795K,R888W,S840I,T298M,V375A,V964A,Y1072C" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 2984 1808 sw2626;sws301;dbsnp1581 ARBK1_HUMAN;NP_001610.2 "A211G,A367V,D457V,I184T,R422H" "0,0,0,0,0" 156 4173 sw2629;dbsnp18906 CXCR7_HUMAN;NP_064707.1 "A336V,H298Y,L219W,T187M,V140M,V168A,V175M,V186I,V230I,V42I,V64L" "0,0,0,0,0,0,0,0,0,0,0" 57007 9355 sw262;dbsnp2970 PATE3_HUMAN;NP_001123355.3 "A17V,G47D,L6F,T30K" "0,0,0,0" 100169851 14675 sw263 TM114_HUMAN "A147V,F206L,I35T" "0,0,0" 283953 12470 sw2632;spmut1199 MCM3_HUMAN "D280V,E777K,F287L,I590L,R774W,S105G" "0,0,0,0,0,0" 4172 3151 sw2633;dbsnp10302 LAMA1_HUMAN;NP_005550.2 "A1242T,A1356T,A1763V,A1876T,A2009T,A2022T,A2067G,A2067V,A2163T,A558V,A886V,D1175N,D1316N,D1682V,D2193Y,D2863N,D413E,D594N,E1134D,E1673A,E2655Q,E598Q,F218S,G1234S,G2254R,G2312R,G2664V,G775S,G967D,H1514Y,I1659V,I2076T,I2282T,K1632E,K2002E,K2086T,L11V,L1591V,L1932V,L2144V,L2511M,L349S,M1340V,N1956S,N2238D,N2286S,N2553K,N674T,P1304A,P839S,P997S,R1055Q,R1072L,R1140C,R2051Q,R2084W,R2175T,R222Q,R225H,R2381C,R2394Q,R2616K,R2988C,R395C,R729H,S1577A,S1916L,S2579N,S2818C,T145M,T2575M,T2611A,T2611P,T434A,T599M,V1049M,V1517D,V1768M,V511I,V559I,V61I,V767I,W818S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284217 138 sw2634;sws303;spmut234;dbsnp24307;dbsnp24308 BRD2_HUMAN;NP_001106653.1;NP_005095.1 "A105V,A212P,A474T,A474V,A49G,A49S,A569T,A599P,A766T,F173L,G23D,H83Q,L238F,P260Q,P269S,P641L,R547K,R580C,R701H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6046 3001 sw2636;dbsnp6255;hgmd0613_1064 TYY1_HUMAN;NP_003394.1 "D380Y,E47D,G141S" "1,0,0" 7528 8288 sw2637;dbsnp19182 DNJB2_HUMAN;NP_006727.2 "E100K,G270R,Q235E,T299I" "0,0,0,0" 3300 10291 sw2638;dbsnp10515;dbsnp10517;hgmd0613_541 ATPA_HUMAN;NP_004037.1;NP_001001937.1 "A32S,A510D,D139G,I125F,I223V,L174V,L60F,R83H,T168M" "0,0,0,0,0,0,0,0,0" 498 5791 sw2640;dbsnp2610 PSA1_HUMAN;NP_002777.1 "G37V,Y137F" "0,0" 5682 11511 sw2641;dbsnp21927 UCP1_HUMAN;NP_068605.1 "A64T,E168K,F275L,G57S,K204I,M229L,R40W,T122M,T227I" "0,0,0,0,0,0,0,0,0" 7350 10603 sw2643;dbsnp11303 CO5A3_HUMAN;NP_056534.2 "A1488P,A280P,D417H,D417N,D553G,D855N,E1074K,E732K,G74S,I1594M,I814T,K1700E,N226Y,P1000Q,P1050S,P1111Q,P1125S,P1156L,P1264S,P446S,P523S,P640L,P706L,R1042P,R1105W,R1122H,R1207P,R134H,R322G,R363Q,R363W,R489C,R63Q,R757Q,S702L,T1642I,T1662M,T1685A,T77M,V1143L,V1195A,V1195D,V1366M,V1428M,V1691I,V307I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50509 533 sw2647;spmut999;dbsnp4139 ITB7_HUMAN;NP_000880.1 "D563N,G611E,G629S,G660V,H616L,H672Y,I467T,L284V,P5R,R213S,R321H,R35Q,R35W,R547C,R591H,R789C,T200M,V393L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3695 3222 sw2648;dbsnp26417 ITB8_HUMAN;NP_002205.1 "C481Y,D495N,E613D,G170A,H534Q,H592D,I107L,I453V,K445N,K540E,R182C,R723S,S507F,S552F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3696 3451 sw2649;dbsnp20575 PTX3_HUMAN;NP_002843.2 "A290V,A48D,E18D,E313K,H39Q,I307V,P303R,R360Q,V246M" "0,0,0,0,0,0,0,0,0" 5806 8950 sw264;dbsnp12025 TARM1_HUMAN;NP_001129158.1 "P210S,P27L,R111H,R149Q,R258W,S37P,V114I" "0,0,0,0,0,0,0" 441864 11454 sw2650;dbsnp28800 PTN3_HUMAN;NP_002820.3 "A90P,D763N,D77N,E569Q,E836K,F605L,F620L,H723R,L95I,N319S,P722L,R83K,T409A,V154I,V473I,V536M,V894A,Y247H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5774 2784 sw2653;dbsnp2321 KRA59_HUMAN;NP_005544.4 "A37T,C87Y,G8R,P38L,Q98H,R29G,S95C,V39I,Y40C" "0,0,0,0,0,0,0,0,0" 3846 11311 sw2654;dbsnp7832;dbsnp7833 RL13_HUMAN;NP_150254.1;NP_000968.2 "A112T,A166V,E143K,Q205H,T170P" "0,0,0,0,0" 6137 12712 sw2655;dbsnp13854 ELAV4_HUMAN;NP_068771.2 "A356T,D166G,P16L,P266A,P266T,P270S" "0,0,0,0,0,0" 1996 8933 sw2656;dbsnp2716 ASPX_HUMAN;NP_001603.1 "A99T,G126R,G151S,L46P,N237I,T186A" "0,0,0,0,0,0" 56 11581 sw265;spmut989 IRK18_HUMAN "K366R,R205H,T140M,T354M" "1,1,1,1" 100134444 7681 sw2660 AMFR1_HUMAN I181V 0 267 4666 sw2661;dbsnp23075;dbsnp23076;dbsnp23077;dbsnp23078;dbsnp23079 MGAT1_HUMAN;NP_001108089.1;NP_001108090.1;NP_001108092.1;NP_002397.2;NP_001108091.1 "A171V,L435P,R223Q,V362I" "0,0,0,0" 4245 7664 sw2662;dbsnp23136;dbsnp23137 SYTC_HUMAN;NP_689508.3;NP_001245366.1 "A66V,A95E,D115N,D643N,G21D,G580C,G580D,I109V,I326T,I705M,K636R,M1V,P424R,T453I,V118I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6897 3199 sw2663;dbsnp24284 SYVC_HUMAN;NP_006286.1 "A1123V,A180V,A454T,D298H,G294A,M615V,N623S,N893Y,P1008L,P51R,P51T,P626S,P896R,R1122W,R1131W,R1184C,R1199W,R1217C,R181C,R181H,R23C,R426Q,R764W,S124L,S2C,T284A,V1055I,V1195M,Y556N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7407 1244 sw2664 TTP_HUMAN "I259F,P37S,P55S,V324F" "0,0,0,0" 7538 10239 sw2666 NKG2A_HUMAN N29S 0 3821 11767 sw2667 NKG2C_HUMAN "S102F,S2N" "0,0" 3822 11767 sw2668 NKG2D_HUMAN "A72T,N177S" "0,0" 22914 12607 sw2669 CD27_HUMAN "A59T,H233R" "0,0" 939 11701 sw266;dbsnp12473 ZN814_HUMAN;NP_001138461.1 "C247F,H213Q,H615R,L257F,M83V,R428Q,R536K,S500C,T767I,V480A" "0,0,0,0,0,0,0,0,0,0" 730051 2862 sw2670;dbsnp1262;dbsnp1263;dbsnp1264 FKBP2_HUMAN;NP_004461.2;NP_001128680.1;NP_476433.1 "A25T,C97Y,K28E,R7Q" "0,0,0,0" 2286 14047 sw2671 HGFL_HUMAN "C13Y,C212F,E676K" "0,0,0" 4485 3837 sw2672 IL3RA_HUMAN "A12T,E77G,S123T,V323L" "0,0,0,0" 3563 9016 sw2674;sws306;dbsnp19242 AVR2A_HUMAN;NP_001607.1 "F117I,F117V,M500V,S258R" "0,0,0,0" 92 6427 sw2678;dbsnp8128 MK03_HUMAN;NP_002737.2 "A114G,E323K,I89V" "0,0,0" 5595 8997 sw2679;spmut1181;dbsnp5844 MARK3_HUMAN;NP_001122390.1 "F410S,K752Q,R486H,R554C,S390R,S443G,S734L,V429A" "0,0,0,0,0,0,0,0" 4140 3250 sw267;dbsnp24340 PP13G_HUMAN;NP_001138587.1 "D356E,G289R,G41R,P280Q" "0,0,0,0" 648791 9472 sw2680;dbsnp11667;hgmd0613_781 GDF1_HUMAN;NP_001483.3 "A118V,A318T,C267Y,G162D,G262S,P312T,R68H,S309P,V130I" "0,1,1,1,1,1,1,1,0" 2657 9160 sw2681;spmut143;dbsnp13489 ARNT_HUMAN;NP_001659.1 "A135T,A566V,C289F,D410V,D511N,D517E,E435K,P706L,R430Q,V304M" "0,0,0,0,0,0,0,0,0,0" 405 3294 sw2683;spmut1738;dbsnp9240 RFA1_HUMAN;NP_002936.1 "A466G,D292N,G437R,R513H,S156F,T303M,T351A,V286F,V286I" "0,0,0,0,0,0,0,0,0" 6117 4958 sw2685;dbsnp1694 CD82_HUMAN;NP_002222.1 "E80K,I241V,L124F,P265S,R132L,R167C" "0,0,0,0,0,0" 3732 11541 sw2686;dbsnp11088 PDE4A_HUMAN;NP_001104777.1 "A736E,A736V,E732G,G882A,G882D,H808Y,I726T,K512R,P331S,P61A,R278W,R308Q,R402W,R530W,R584Q,T842M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5141 2686 sw2687;spmut1171;dbsnp20118 MAP4_HUMAN;NP_002366.2 "A817P,A891T,D1075N,D285N,D327V,D409G,D449N,E441Q,I386V,I994V,K574T,N59K,P135S,P366L,P902L,R23Q,S179T,S367P,S427Y,S971F,S996F,T216M,T248S,T45K,T526A,T571P,T828M,T977K,V534I,V613M,V628I,V628L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4134 1545 sw2689;dbsnp18638 IL1R2_HUMAN;NP_004624.1 "E181K,E292K,H329Y,I311T,P286S,R317K,R338C,R33K,R85W,T163I,V11I" "0,0,0,0,0,0,0,0,0,0,0" 7850 8618 sw268;dbsnp2738 CLD25_HUMAN;NP_001094859.1 "H219Y,R159Q" "0,0" 644672 12335 sw2691;dbsnp13097 IP3KB_HUMAN;NP_002212.3 "A322T,A853T,D320A,G250D,G294W,G74S,L945V,P393L,P461S,P552Q,P563S,R173H,R189G,R625C,S408A,T757A,V914I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3707 2361 sw2693;dbsnp24663;hgmd0613_2327 PSB8_HUMAN;NP_683720.2 "A224S,G201V,G8R,Q49K,R145C,T74S,T75M,V103M,Y234C" "0,1,0,0,0,0,1,0,0" 5696 11343 sw2694;spmut1639;dbsnp24295 PSB9_HUMAN;NP_002791.1 "A64S,G9E,R173C,R173H,R60C,R60H,V32I,V32L" "0,0,0,0,0,0,0,0" 5698 12141 sw2695 DMA_HUMAN "D163H,G181A,H162Q,R210C,R210H,V166I,V235M" "0,0,0,0,0,0,0" 3108 11670 sw2696;spmut514 DMB_HUMAN "A162E,A162V,D49V,I197T,S45F,S71N,T28A" "0,0,0,0,0,0,0" 3109 11621 sw2698;dbsnp12817 PSB4_HUMAN;NP_002787.2 "I234T,M218V,M95I,R23H" "0,0,0,0" 5692 11598 sw2699;dbsnp9052 PSB6_HUMAN;NP_002789.1 "A239T,F159L,G44W,P107A,R123Q" "0,0,0,0,0" 5694 12141 sw269;dbsnp3377 CL097_HUMAN;NP_001094809.1 "L131F,N124K" "0,0" 196415 14008 sw26;dbsnp7546 BICR2_HUMAN;NP_001096645.1 "L490P,Q273R,Q55E,R129W,W114C" "0,0,0,0,0" 146439 6501 sw2700;spmut1638;dbsnp5869 PSB5_HUMAN;NP_002788.1 "R216H,R24C,Y220C" "0,0,0" 5693 11343 sw2706;dbsnp18543 SSFA2_HUMAN;NP_001123917.1 "A36G,A817V,D1179H,D587N,E403G,G647D,I1230V,I849L,M933V,N600S,P1120S,P450S,P836L,Q656R,R1037L,R712H,R757Q,R833W,S1107T,S424P,S806C,T1168S,T633I,Y1258N,Y176C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6744 1252 sw2707;dbsnp23196 LYOX_HUMAN;NP_002308.2 "D305E,P159Q,R158Q,S132F" "0,0,0,0" 4015 5497 sw2708;dbsnp16189 CYTD_HUMAN;NP_001891.2 "C46R,G91S,K141E,R140Q,S24L,T96I,V19M" "0,0,0,0,0,0,0" 1473 13991 sw2709 PEX2_HUMAN C184R 0 5828 10749 sw270;dbsnp6772 PATL2_HUMAN;NP_001138584.1 "I294M,L20P,L478P,M88L,M88V,Q269K,V272M" "0,0,0,0,0,0,0" 197135 5939 sw2710 CLAT_HUMAN "D47E,V461M" "0,0" 1103 3625 sw2711 ACADL_HUMAN "K333Q,S303T" "0,0" 33 7943 sw2714;spmut7;dbsnp29562;dbsnp29563 5HT2C_HUMAN;NP_000859.1;NP_001243689.1 "A171V,C23S,D42H,E198D,I156V,I160V,L4V,N158S,S260G" "0,0,0,0,0,0,0,0,0" 3358 11969 sw2715;dbsnp25046 NMBR_HUMAN;NP_002502.2 "A243T,A32G,C318Y,I167V,I304V,K237N,L390M,P148A,P148H,R310W,V214A,V319A,W109R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4829 8794 sw2716;dbsnp11090;dbsnp11091;hgmd0613_973 DPOD1_HUMAN;NP_002682.2;NP_001243778.1 "A145T,A152V,A354V,A599T,A890V,D27V,D644E,G21C,G764S,I260V,P347L,Q283H,Q684H,R1086Q,R119H,R177H,R19H,R218H,R30W,R343P,R521Q,R5W,R849H,S173N,T258M,V70F,V759I,Y472H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5424 1691 sw271;dbsnp15550 BTBDJ_HUMAN;NP_001130009.1 "E110G,L48F,R39Q,S21G,T76S" "0,0,0,0,0" 149478 11064 sw2720;spmut1970;dbsnp30256 SMCA1_HUMAN;NP_003060.2 "A917T,G837A,N246S,Q656R,R259C,R275C,R275H,R448Q,R808W,T1043S,Y807F" "0,0,0,0,0,0,0,0,0,0,0" 6594 1875 sw2723;dbsnp24258 5HT1E_HUMAN;NP_000856.1 "A208T,P267H,S262F" "0,0,0" 3354 9287 sw2724;dbsnp19124 GRAN_HUMAN;NP_036330.1 "Q74H,S168G,S80A" "0,0,0" 25801 12584 sw2725;dbsnp10721;dbsnp10722 MZF1_HUMAN;NP_003413.2;NP_932172.1 "A216D,E17K,E642K,G325A,G514R,H615Y,H703Q,I292S,I331V,L311R,P40S,Q82R,R103C,R103H,R108W,R124W,R130Q,R441P,R496W,R51H,R78C,S313T,S8F,T162S,T635R,Y681F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7593 3749 sw2726 ERCC5_HUMAN "G1053R,H181R" "0,0" 2073 696 sw2727;spmut1719;dbsnp16560 RBL1_HUMAN;NP_002886.2 "A771V,D172N,G678E,I1035M,I592T,I720V,I735M,M551T,P520R,R517C,S294T,T337I,T769I,Y796C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5933 1826 sw2729;dbsnp10580 PTPRM_HUMAN;NP_002836.3 "A672T,D1063A,I499M,L654Q,L70M,M809I,S39R,S823W,S917L,S917W,T811M,V604M,Y1331C,Y273C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5797 874 sw272;dbsnp6648;hgmd0613_661 KBTBD_HUMAN;NP_001094832.1 "A81V,D111E,D172E,K390N,P445L,R248S,R408C,T455A" "0,0,0,1,0,1,1,0" 390594 7430 sw2730;dbsnp14930 CD34_HUMAN;NP_001020280.1 "A200V,A367S,G325D,L33P,P124R,S318T,T133I,V127I,V75L" "0,0,0,0,0,0,0,0,0" 947 8887 sw2732 TNR8_HUMAN "C273F,C273Y,C297R,P314S,Q466R,S402G" "0,0,0,0,0,0" 943 5194 sw2733;dbsnp13925 CD1C_HUMAN;NP_001756.2 "F300S,I317T,N257D,N70T,Q265R,R213H,R283T,R97Q,S35L,V282L" "0,0,0,0,0,0,0,0,0,0" 911 8827 sw2735;dbsnp18629 PTN4_HUMAN;NP_002821.1 "A443T,A647T,D381G,E215K,L158I,M237T,N444S,R24G,R309H,R640Q,R6Q,R758H,T924S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5775 2453 sw2737;dbsnp27325 T2EB_HUMAN;NP_002086.1 "E234K,G47A,I133T,K183R,R25C" "0,0,0,0,0" 2961 11065 sw2739;dbsnp6469 PCSK6_HUMAN;NP_002561.1 "A529V,C502R,D162G,I689T,M501T,Q439E,T639I,T964M,V445I" "0,0,0,0,0,0,0,0,0" 5046 515 sw273;dbsnp1898 CK094_HUMAN;NP_001073915.2 "A45T,L49R,P87R,Q80H,Q81H,S50L" "0,0,0,0,0,0" 143678 14676 sw274 MUC22_HUMAN N1712D 0 100507679 574 sw2742 CTGF_HUMAN H83D 0 1490 9489 sw2744;sws311;spmut608;dbsnp21011 EPHA3_HUMAN;NP_005224.2 "A549V,A608T,A777G,C568S,E265G,E298Q,E307K,I564V,L590P,P173L,P421Q,R914H,T442M,V597I,W924R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2042 1629 sw2745;sws312;dbsnp13067 EPHA8_HUMAN;NP_065387.1 "A301V,A349V,A894V,A906S,A906T,A972T,E612Q,G45S,G797S,L133M,N432D,P321L,P607H,Q525R,R209H,R269Q,R507C,R522H,R537H,R707C,R837Q,R856C,R856H,R884H,R897C,R948Q,V444M,V60L,V826M,V917I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2046 1872 sw2746 EPHB2_HUMAN "A279S,C289G,D678N,H679N,I909M,M883V,R199H,R844W" "1,0,0,1,1,1,1,0" 2048 1872 sw2747;dbsnp14335 SHC1_HUMAN;NP_892113.4 "A205V,M410V,N451S,N505S,P215S,P31L,R369Q,R77H,S476L,V470M" "0,0,0,0,0,0,0,0,0,0" 6464 5219 sw2749;dbsnp7306 3MG_HUMAN;NP_002425.2 "A258V,A298S,A5T,H32N,K22Q,P64L,Q93R,R109Q,R120C,R141Q,R60C,V179I,V242L,Y71H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4350 10906 sw2750;dbsnp5509 ARI4A_HUMAN;NP_002883.3 "E872A,H411D,H412P,I224V,K207R,N724S,P680L,S1132P,S1132T,S864L,T185M,T779A,V38I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5926 1261 sw2751;dbsnp3690;hgmd0613_611 KDM5A_HUMAN;NP_001036068.1 "E1558V,H808L,M865T,P1190A,R359Q,T30A" "0,0,0,0,0,0" 5927 650 sw2754;dbsnp20093;dbsnp20094 TKT_HUMAN;NP_001055.1;NP_001128527.1 "A132T,D155E,D200E,E222D,E255D,F393L,I181V,K283M,R246Q,R438Q,R64Q,T249M,V419I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7086 4793 sw2755;dbsnp23387 IL12B_HUMAN;NP_002178.2 "E95K,G171R,G182R,R250Q,S100L,S226N,V298F,V33I" "0,0,0,0,0,0,0,0" 3593 10190 sw2759;spmut2008;dbsnp10367 SPB3_HUMAN;NP_008850.1 "A71S,D14H,D240N,D252N,D76G,E362K,G351A,G39R,G68E,H364R,H364Y,K188N,L174F,M1K,M302T,P202S,P356S,Q211H,R144Q,R279P,S170N,S223L,T357A,W269R,Y207H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6317 8777 sw275;spmut527;dbsnp11121 DNS2A_HUMAN;NP_001366.1 "A332D,A45G,H204R,P71S,Q192P,R314L,R39I" "0,0,0,0,0,0,0" 1777 9410 sw2760;dbsnp13886 LMOD1_HUMAN;NP_036266.2 "K265N,P276R,T295M,V47L" "0,0,0,0" 25802 5130 sw2761;spmut1578;dbsnp6736 PML_HUMAN;NP_150241.2 "F645L,K725R,R632W" "0,0,0" 5371 2702 sw2763;dbsnp22147 ODPAT_HUMAN;NP_005381.1 "A173G,D194Y,G289A,K275N,M280L,P357S,Q82H,R286P,R309K,R376G,R8C,R8H,T190A,V21E,V297D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5161 7993 sw2765;dbsnp24926 MARCS_HUMAN;NP_002347.5 "A274V,E227D,K11N,P250L,P313L" "0,0,0,0,0" 4082 10089 sw2769;dbsnp531 PBLD_HUMAN;NP_071412.2 "A235T,H257R,L123F,R17C" "0,0,0,0" 64081 11138 sw2770 ES1_HUMAN V6A 0 8209 11519 sw2771;spmut221;dbsnp11550 BLVRB_HUMAN;NP_000704.1 "E141A,E29K,P122S,Q22R,R124Q,R140G,R46Q,R92Q,S111L,V3I" "0,0,0,0,0,0,0,0,0,0" 645 12826 sw2772;sws315;spmut1618 PRDX5_HUMAN Y33C 0 25824 12648 sw2773;spmut1617;dbsnp728 PRDX3_HUMAN;NP_006784.1 "A218T,G173C,N192S,Q50P,R170G,R170Q,S55R,T234I" "0,0,0,0,0,0,0,0" 10935 11475 sw2774;dbsnp118 ECHM_HUMAN;NP_004083.3 "A173V,A222T,T75I,V11A" "0,0,0,0" 1892 11094 sw2775;dbsnp3439 PEBP1_HUMAN;NP_002558.1 "H145Y,N95S,S9N" "0,0,0" 5037 13226 sw2778;dbsnp1825 CD6_HUMAN;NP_006716.3 "A257V,A271T,G481D,G606S,H440Q,R225W,S351N,S612P,T217M,T539A,W583G" "0,0,0,0,0,0,0,0,0,0,0" 923 4395 sw2779;sws316;dbsnp9115 CDC27_HUMAN;NP_001247.3 "F611L,G265D,G417A,H609R,I308T,I487V,K318E,K412E,L613F,M463L,N260H,P242S,P290Q,P69L,Q174H,Q350E,S150C,S150Y,S320P,S378R,T329A,Y234S,Y496H,Y635C,Y73C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 996 3034 sw277;dbsnp27615 UBXN8_HUMAN;NP_005662.1 "A125S,I51T,M1V,R240W,S236A,V18M" "0,0,0,0,0,0" 7993 11476 sw2780;dbsnp3842 CCND2_HUMAN;NP_001750.1 "G268R,R262H,S175C" "0,0,0" 894 10984 sw2781;dbsnp24504 CCND3_HUMAN;NP_001751.1 "C91Y,E253D,P134S,R167Q,S259A,S259P,S259T" "0,0,0,0,0,0,0" 896 12543 sw2782;spmut2370;dbsnp2626 WEE1_HUMAN;NP_003381.1 "A387G,A572T,C379R,G210C,M458L,S472I" "0,0,0,0,0,0" 7465 4624 sw2786;spmut1266;dbsnp23412 MPIP3_HUMAN;NP_001781.2 "E378V,G297R,G415S,I373M,N76K,R213C,R461Q,R461W,R70C,S14N,S78N,V374L,V374M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 995 7140 sw2788;dbsnp21039 NKTR_HUMAN;NP_005376.2 "C964W,E1120G,G946A,H226Y,I646V,K764E,K928T,L861V,M1182T,N1220D,P308S,P584S,R1286H,R1305Q,R430C,R729Q,S1092C,S1335R,S207Y,S935L,V1175A,V1250M,V271G,V303F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4820 880 sw2789;spmut1371;dbsnp8819 NMT1_HUMAN;NP_066565.1 "D165N,K127R,L163V,N50D,Q61K,V365I" "0,0,0,0,0,0" 4836 6701 sw2790;dbsnp24410 1A01_HUMAN;NP_001229687.1 "A100E,D114A,F33S,G80R,M91V,R41S" "0,0,0,0,0,0" 3105 7735 sw2791 1A23_HUMAN Y31C 0 3105 7735 sw2792 1A26_HUMAN "D140N,F60L,I306V" "0,0,0" 3105 7735 sw2793 1A34_HUMAN "I3V,L312I" "0,0" 3105 7735 sw2796 1A66_HUMAN S28W 0 3105 7735 sw2797 1A74_HUMAN "G103A,R23W" "0,0" 3105 7735 sw2799 1B13_HUMAN "L169R,Y183C" "0,0" 3106 7735 sw27;sws1;dbsnp22005 ODAM_HUMAN;NP_060325.3 "I222T,M150V" "0,0" 54959 11289 sw2801 1B15_HUMAN P274L 0 3106 7735 sw2803 1B39_HUMAN "C91S,C91Y,F140S,L119W,M122T,Q168R,Y123S,Y33D" "0,0,0,0,0,0,0,0" 3106 7735 sw2806 1B44_HUMAN D85E 0 3106 7735 sw2807 1B45_HUMAN Q139R 0 3106 7735 sw280;dbsnp12208 DX39A_HUMAN;NP_005795.2 V142I 0 10212 7985 sw2811 1B49_HUMAN L56Q 0 3106 7735 sw2814 1B53_HUMAN I118T 0 3106 7735 sw2819 1C01_HUMAN "E179Q,E5A,N92K,S202T,S364C" "0,0,0,0,0" 3107 7735 sw281;dbsnp376 PDLI1_HUMAN;NP_066272.1 "N175S,T74I" "0,0" 9124 10158 sw2821 1C04_HUMAN V52L 0 3107 7735 sw2823 1C12_HUMAN G144V 0 3107 7735 sw2828;dbsnp8016;dbsnp8017;dbsnp8018;dbsnp8019 HMOX2_HUMAN;NP_002125.3;NP_001120676.1;NP_001120678.1;NP_001120677.1 "A240P,D238V,E65G,M101T,M113L,P146L,Q52H,R137Q" "0,0,0,0,0,0,0,0" 3163 10496 sw2829;dbsnp14649 PURA2_HUMAN;NP_001117.2 "K226R,L179F" "0,0" 159 6675 sw282;dbsnp9370 MYO1C_HUMAN;NP_001074248.1 "A402V,A913T,A946T,D133N,D929N,E866K,G246E,G362R,K858N,P368L,Q785K,Q826R,R173Q,R191W,R543C,R588Q,R751W,R813C,T414I,T415M,V107I,V170M,V287I,V406M,V795I,V892I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4641 1846 sw2830;sws318;spmut2321 UFO_HUMAN "N266D,S515G,T112M" "0,0,0" 558 2640 sw2831;dbsnp21076 SC6A1_HUMAN;NP_003033.3 "L415I,M179V,P521Q" "0,0,0" 6529 4740 sw2832;dbsnp6564 ACHA5_HUMAN;NP_000736.2 "D398N,F266I,F76V,H462Q,K167R,L317V,L363Q,M321V,R401C,R401H,V134I" "0,0,0,0,0,0,0,0,0,0,0" 1138 7236 sw2833;dbsnp21862 AMRP_HUMAN;NP_002328.1 "A325T,D211H,D211N,E64Q,E90K,G145R,G166S,H184Q,H354D,I199V,N114S,R113H,R278Q,R321C,R330Q,R37P,T337M,T337R,V311M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4043 9488 sw2834;dbsnp17263;dbsnp17264;dbsnp17265 TSPOA_HUMAN;NP_001243460.1;NP_000705.2;NP_001243459.1 "A119V,A94V,E169Q,G106V,R162H,T147A" "0,0,0,0,0,0" 706 13556 sw2837;dbsnp20638 OXYR_HUMAN;NP_000907.2 "A16S,A218T,A238T,E339K,G221S,L206V,N367S,V172A,V281M,W228C" "0,0,0,0,0,0,0,0,0,0" 5021 8057 sw283;dbsnp11415 MYO1F_HUMAN;NP_036467.2 "A839D,A839T,E298D,K924N,P1044S,P960L,S323T" "0,0,0,0,0,0,0" 4542 1688 sw2840;sws320;dbsnp3525 CLIP1_HUMAN;NP_001234926.1 "A1224S,A142V,A202P,A344T,A632T,A694T,D1080E,D1090Y,E693K,E785K,F762S,M3V,M947R,R780W,S162P,S941P,T1017K,T27M,T45S,T653M,V506I,V958L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6249 920 sw2841;dbsnp10850 GNA15_HUMAN;NP_002059.2 "E283G,M187I,S114N,V199M,Y147C" "0,0,0,0,0" 2769 9110 sw2842 1B35_HUMAN "G107D,G40V,L133F" "0,0,0" 3106 7735 sw2844;dbsnp25391 ILEU_HUMAN;NP_109591.1 "A82V,E210V,E224K,E224Q,E237Q,N263T,N90S,R290C,S150L" "0,0,0,0,0,0,0,0,0" 1992 8998 sw2847;spmut82;dbsnp8708;dbsnp8709;dbsnp8710 AL3A1_HUMAN;NP_000682.3;NP_001128639.1;NP_001128640.1 "A233S,A233T,A351V,E270A,E43Q,G300D,G309E,H183R,L185P,P329A,Q242K,R314C,S134A,T198M,T322M,V110I,V393I,Y282C,Y305F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 218 6518 sw2848;dbsnp6856 ACHB4_HUMAN;NP_000741.1 "A435V,I66F,M467V,N41S,R109H,R136Q,R136W,R349C,R39C,S140G,T375I,T91I,V311I,V471I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1143 12312 sw2849;dbsnp8595 OR1E1_HUMAN;NP_003544.2 "A143T,C27R,L130M,L144V,M59V,N286T,P129L,S262P,T57M" "0,0,0,0,0,0,0,0,0" 8387 10316 sw2850;dbsnp14373 O10J1_HUMAN;NP_036483.2 "D22N,I103M,M112I,M144R,M62I,M70T,N205S,R152S,S285L,T121I,V116A,V41M,Y269F,Y71H,Y84N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26476 10021 sw2852 CALCR_HUMAN P463L 0 799 6520 sw2855;dbsnp8116;dbsnp8117;hgmd0613_1567 COR1A_HUMAN;NP_001180262.1;NP_009005.1 "P366H,R383P,R383Q,R402W,R415K,T443P,V397I" "0,0,0,0,0,0,0" 11151 6859 sw2857;dbsnp13909 S10A7_HUMAN;NP_002954.2 "E28D,K19Q,V58I" "0,0,0" 6278 14518 sw2858;dbsnp10465 MK04_HUMAN;NP_002738.2 "D55N,G17D,R371P,V38M" "0,0,0,0" 5596 3870 sw285;dbsnp16104 EYA2_HUMAN;NP_005235.3 "A93T,E507Q,G112V,G157R,G247R,L423F,P83S,R243W,R24C,S126P,T238A,T299M,T300M,V333I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2139 4703 sw2860;dbsnp19473 HXD3_HUMAN;NP_008829.3 "G42S,P124L,S129C,T125N,T38M" "0,0,0,0,0" 3232 7909 sw2861;dbsnp26266 HXA7_HUMAN;NP_008827.2 "A18T,G17A,G17R,K103R" "0,0,0,0" 3204 12318 sw2863;dbsnp4423 HXC13_HUMAN;NP_059106.2 "S50I,T94K" "0,0" 3229 10141 sw2864;dbsnp19844 HXD11_HUMAN;NP_067015.2 "A29S,G245D" "0,0" 3237 9942 sw2865;dbsnp26343 KAP3_HUMAN;NP_002727.2 "A397S,A397T,D187H,D187N,E335D" "0,0,0,0,0" 5577 8197 sw2867;dbsnp12936 CD52_HUMAN;NP_001794.2 "G25E,I41M,N40S,R3C,T10N" "0,0,0,0,0" 1043 14910 sw2869;dbsnp16155 SSR4_HUMAN;NP_001043.2 "A245D,F284V,F321S,G236D,G355S,N83T,R191P,R244C" "0,0,0,0,0,0,0,0" 6754 8781 sw2870;dbsnp14910 CASQ1_HUMAN;NP_001222.3 "A172V,D44N,E192Q,E76K,G107R,G45V,H72R,I164T,I285T,K220N,M7I,M87T,N51H,T148I,Y140F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 844 8594 sw2871;dbsnp16237 SDC4_HUMAN;NP_002990.2 "E102K,F12L,R171H,V111A" "0,0,0,0" 6385 13001 sw2874;dbsnp24302 ZEP2_HUMAN;NP_006725.3 "A1041V,A932T,E81D,G65V,I345V,L1293I,L1538P,L2346F,R46Q,T2318K,V678M,Y1242C" "0,0,0,0,0,0,0,0,0,0,0,0" 3097 259 sw2876;dbsnp21202;dbsnp21203 SC6A6_HUMAN;NP_001127839.1;NP_003034.2 "G36R,G606S,I17M,I438L,I543T,L18V,V128I,V557I,W236C" "0,0,0,0,0,0,0,0,0" 6533 4740 sw287;dbsnp26271 CCL24_HUMAN;NP_002982.2 "A102T,I29L,Q110E,S31F,S49G,W81G" "0,0,0,0,0,0" 6369 14410 sw2881;dbsnp20824 QCR1_HUMAN;NP_003356.2 "D215H,E435K,G312S,N301S,P267R,R269H,R33W" "0,0,0,0,0,0,0" 7384 6858 sw2883;spmut23;dbsnp17704 ABC3A_HUMAN;NP_001180218.1 "A112V,A139P,D133E,D180E,K137N,R123H,T19A" "0,0,0,0,0,0,0" 100913187 8915 sw2884;dbsnp331 HNRH3_HUMAN;NP_036339.1 "G279V,G284A,N163S" "0,0,0" 3189 7617 sw2885;dbsnp15958 1433S_HUMAN;NP_006133.1 "E161D,K32E,M155I,P246L" "0,0,0,0" 2810 11797 sw2887;dbsnp11144 CEAM8_HUMAN;NP_001807.2 "A298V,A45V,G17V,G211E,G295R,I340M,L322V,N219K,P142L,P142T,R110Q,R114K,T121N,T247A,T290A,V210I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1088 4058 sw288;dbsnp17670 GTPB1_HUMAN;NP_004277.2 "G91R,S608F,T600M" "0,0,0" 9567 4378 sw2890;dbsnp12072 PRDX2_HUMAN;NP_005800.3 "D153E,N5S" "0,0" 7001 11475 sw2891;dbsnp30389 GLPK_HUMAN;NP_001191948.1 "A382T,N232H,S185N" "0,0,0" 2710 5696 sw2896;dbsnp30760 BRS3_HUMAN;NP_001718.1 "L162Q,Q344H,T53P" "0,0,0" 680 8599 sw2897;dbsnp8928 CCR7_HUMAN;NP_001829.1 M7V 0 1236 9017 sw2898;dbsnp6788 ACHA3_HUMAN;NP_000734.2 "F415V,G374S,H217Y,I209M,I464N,R110H,R238Q,R239G,R37H,R37P,R408C" "0,0,0,0,0,0,0,0,0,0,0" 1136 4824 sw289;dbsnp8636 LEG9_HUMAN;NP_033665.1 "A203T,A222T,D284N,E290G,F66L,G176E,G323D,G5S,M225I,P219S,Q179L,R302H,R65Q,V184M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3965 9517 sw28;dbsnp23160 ARH37_HUMAN;NP_001001669.2 "A291T,A463T,A463V,M421L,M604V,P139L,P489L,P586T,R338Q,S518R" "0,0,0,0,0,0,0,0,0,0" 389337 4318 sw29 PXDNL_HUMAN "D1452E,D616A,I343T,M981V,R1399K,R583Q,V1327D" "0,0,0,0,0,0,0" 137902 859 sw2900;sws324;dbsnp1527 CXCR5_HUMAN;NP_001707.1 "G344S,H194Y,H243Q,R335Q,V108M,V278I,V56M" "0,0,0,0,0,0,0" 643 9161 sw2904;dbsnp13227 GBP1_HUMAN;NP_002044.2 "A117T,A23V,A2S,A409G,E166D,I131M,I78V,K391R,L418P,L542S,Q249H,Q265K,Q344R,R358T,R406H,R434H,R585Q,S213N,T181A,T349S,T70M,V127M,Y300C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2633 4696 sw2905;dbsnp13471 GBP2_HUMAN;NP_004111.2 "A138T,A549T,E543G,F563I,I330V,L245V,P285A,R491C,S281P,S303G,T210I,V127E,V299I,V341M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2634 4696 sw2906;dbsnp4907 ELF1_HUMAN;NP_758961.1 "E399K,I61T,I96V,N349K,N58S,P164L,R330K,R384Q,S350A,S458P,T343S,T403I,V415I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1997 4924 sw2907;dbsnp17345 SSR3_HUMAN;NP_001042.1 "A165V,A33V,P37L,R117H,R239Q,R247W,R336C,R373W,R387W,R414C,R414H,S251F,S411T,T162M,V173M,V179L,V45I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6753 8198 sw2909;dbsnp2873;dbsnp2874 TF2H1_HUMAN;NP_001135779.1;NP_005307.1 "I525V,L517V,R234W,S285F,S80T" "0,0,0,0,0" 2965 5867 sw290;dbsnp13733 STXB3_HUMAN;NP_009200.2 "C546G,D424N,E433G,R295Q,V504I" "0,0,0,0,0" 6814 5096 sw2911;dbsnp28780 IFNA8_HUMAN;NP_002161.2 "E137K,F61L,Q75K" "0,0,0" 3445 13072 sw2912;dbsnp10377 DSG3_HUMAN;NP_001935.2 "C898Y,D116H,D116N,D431N,E498K,F749L,I405N,I960V,N430K,R575W,R769G,R7K,R86Q,R964S,S771F,S835I,T706M,T768I,T824A,T912A,V509G,V509M,V538I,V828M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1830 2112 sw2915;dbsnp11336 ICAM3_HUMAN;NP_002153.2 "D143G,E168K,G439A,G540V,I63V,L65V,Q393R,R115G,S525T,T310K,V226A,V88M" "0,0,0,0,0,0,0,0,0,0,0,0" 3385 5880 sw2917 C2TA_HUMAN R174G 0 4261 1626 sw2918;dbsnp7394 CADH5_HUMAN;NP_001786.2 "E338D,I503T,I517M,I517T,M6V,Q289H,Q542R,R299Q,R33Q,R410H,R44H,R565H,V359I,V573M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1003 3320 sw2919;dbsnp1495 LSP1_HUMAN;NP_002330.1 Q229K 0 4046 7269 sw2920;dbsnp352 CP2CI_HUMAN;NP_000763.1 "C338R,K275N,K275R,Q192H,R124W,R144H,R335Q,R442H,R442L,R478H,T299I,T385M,V330L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1562 6783 sw2921 CP2CJ_HUMAN "A161P,E122A,E92D,F168L,I19L,L17P,M74T,P227L,R132Q,R144H,R150H,R329H,R410C,R433W,R442C,S51G,V331I,W120R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1557 6755 sw2922;spmut553;dbsnp6900 DUT_HUMAN;NP_001020419.1 "E34K,H13D,P100S" "0,0,0" 1854 11864 sw2924;dbsnp13628 S10A5_HUMAN;NP_002953.2 "D54G,D64N,E46K,Y19F,Y19H" "0,0,0,0,0" 6276 14702 sw2925;dbsnp15079 S10A3_HUMAN;NP_002951.1 "H87Q,L62V,N56S,R22C,R3K,R77C" "0,0,0,0,0,0" 6274 14632 sw2928;dbsnp25424 MA1A1_HUMAN;NP_005898.2 "A131V,A478T,E183G,E491K,R651G,V648L" "0,0,0,0,0,0" 4121 4555 sw2929;spmut2242;dbsnp24616 TTK_HUMAN;NP_003309.2 "A97V,D758N,I396V,K614R,L356V,N823H,Q249P,R185W,R414G,V276F,V77F" "0,0,0,0,0,0,0,0,0,0,0" 7272 2852 sw292;dbsnp17337 ARVC_HUMAN;NP_001661.1 "A684T,A805V,A821V,A822V,A847E,D150N,D633A,F677L,G152S,G53D,G886V,G951R,P220L,P767S,R233W,R330Q,R34W,R43H,R539Q,R541Q,R560W,R665C,R836C,R888Q,R906Q,R909Q,R909W,R912W,T872K,T872M,V175A,V480I,V518I,V829A,V958I,Y474S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 421 2273 sw2930;dbsnp27385;dbsnp27386 MCM4_HUMAN;NP_005905.2;NP_877423.1 "E443G,E460G,E460K,F263L,I283T,K163E,K409M,L650M,M684T,R321C,R330C,R701Q,R845H,S469T,T189P,V241I,V408M,V860M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4173 2807 sw2931;dbsnp17491 MCM5_HUMAN;NP_006730.2 "A157V,I469V,K129N,M127V,P366S,Q125H,R112Q,R176H,R594H,S136T,S512A,T180S,T199I,V106A,V149L,V258I,V258L,V711A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4174 3750 sw2932;dbsnp26086 MCM7_HUMAN;NP_005907.3 "A316D,D23N,D269N,E57K,E591D,E90K,G27R,G473S,I394T,L358R,M109V,N144S,Q522E,R114Q,R153W,R39W,R656S,T199I,T283A,V423L,V423M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4176 3880 sw2934;dbsnp5740;dbsnp5741 RNAS4_HUMAN;NP_002928.1;NP_919412.1 "A126E,A126V,E44Q,E76D,I133F,R38W,R51C,T16S,V103I" "0,0,0,0,0,0,0,0,0" 6038 13970 sw2936;dbsnp27417 SDC2_HUMAN;NP_002989.2 "A59T,D108G,I150T,M30L,S71T" "0,0,0,0,0" 6383 12937 sw2937;dbsnp8585 CD68_HUMAN;NP_001242.2 "A340T,A350T,I329T,Q254K,R179Q,S110G,T41M" "0,0,0,0,0,0,0" 968 9552 sw2938;dbsnp15100 BMP8B_HUMAN;NP_001711.2 "A365V,E278K,G297S,H293R,M342V,M394L,R389H,R392H,V308L" "0,0,0,0,0,0,0,0,0" 656 8540 sw2939;dbsnp8881 GLYC_HUMAN;NP_004160.3 "E340Q,K216R,L197P,L474F,M1K,P144L,R191C,R213W,V240M" "0,0,0,0,0,0,0,0,0" 6470 6591 sw293;dbsnp10502 RB27B_HUMAN;NP_004154.2 "A92T,D153E,P138L,R149L,Y27F" "0,0,0,0,0" 5874 12506 sw2940;dbsnp9368 EVI2B_HUMAN;NP_006486.3 "C253F,D285H,G53R,I161V,N381S,P340R,Q69P,T147I" "0,0,0,0,0,0,0,0" 2124 7624 sw2942;sws328;spmut1847 RYK_HUMAN R224C 0 6259 5024 sw2943;dbsnp24351 HS71L_HUMAN;NP_005518.3 "A268T,A8P,D294G,E558A,E602K,I53T,I9M,R324Q,R519C,T267I,T479M,T493M,V244M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3305 4658 sw2944;sws329;spmut807;dbsnp295 GRK5_HUMAN;NP_005299.1 "A119V,E151Q,G122S,G20R,G76A,G76V,H159Q,I577V,L141I,Q172H,Q41L,R178K,R304C,R304H,R304P,R399H,S143A,T129M,T425M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2869 5266 sw2948;dbsnp27327 TRFR_HUMAN;NP_003292.1 "I168M,N10K,V356I" "0,0,0" 7201 8619 sw2949;spmut1422;dbsnp8691 OR1D2_HUMAN;NP_002539.2 "F211L,F31Y,H175Y,I288V,M276I,N195I,P210R,R122C,R25Q,T240I,V153I,V198A,V214M,V40L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4991 10316 sw2950 PE2R1_HUMAN "A71T,H256R,T223M" "0,0,0" 5731 8541 sw2951 TRY3_HUMAN "A174V,T188A,Y232C" "0,0,0" 5646 10773 sw2952;sws330;spmut791;dbsnp18424 GPC1_HUMAN;NP_002072.2 "G131R,G264S,G485S,G491S,K528T,L100F,M99T,R142Q,R149H,R173C,R511Q,R90Q,R94H,S308L,S500G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2817 5719 sw2953;dbsnp22257 BTC_HUMAN;NP_001720.1 "C7G,E155K,L124M,L44F,P49S,Q72P,R146Q,R149H,T90M,V138F,V29A" "0,0,0,0,0,0,0,0,0,0,0" 685 13393 sw2954;spmut2309;dbsnp9046 UBP6_HUMAN;NP_004496.2 "A194T,A208S,C415Y,D23E,D23H,D335N,E499V,E510K,G107C,G125R,G431D,H89D,H89N,H89Y,I1167S,I1330V,I276L,I547V,I609T,K16E,K604R,K88T,K92N,L10V,L121S,L1377P,L19I,M1404I,N1287S,P1254L,P181L,P373L,Q128K,R1101W,R126K,R1303G,R153Q,R153W,R270W,R27Q,R324W,R456W,R912Q,R96L,S1009F,S91T,T1199I,T424M,T459M,T54K,V295M,V525I,W475R,Y162H,Y179N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9098 731 sw2955;dbsnp13239 CXA4_HUMAN;NP_002051.2 "A128V,A140V,G272R,G316S,I208T,P258S,P319S,P320L,P71S,Q49H,R132C,R132H,R132L,V130I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2701 10068 sw2957;dbsnp23748 CTNA1_HUMAN;NP_001894.2 "A179V,D265E,M124I,P219S,Q206H,R540H" "0,0,0,0,0,0" 1495 2579 sw2959 IL13_HUMAN R144Q 0 3596 13996 sw295;spmut2044;dbsnp11454 ST2B1_HUMAN;NP_814444.1 "L51S,M304I,P345L,R100Q,R230H,R268H,R302G,R33Q,R93C,V240I" "0,0,0,0,0,0,0,0,0,0" 6820 9293 sw2960 BMI1_HUMAN C18Y 0 648 7229 sw2962;dbsnp24815;dbsnp24816 SPB6_HUMAN;NP_004559.4;NP_001182220.1 "G153S,L19V,M34V,M90V,S105Y,V346I" "0,0,0,0,0,0" 5269 8998 sw2965;dbsnp60 SFTPD_HUMAN;NP_003010.4 "E309K,L123V,M31T,N179K,P122A,P122S,P137L,P48S,R174H,R60W,S290T,T180A,V43E" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6441 9091 sw2966;sws334;dbsnp20272;dbsnp20273 RFC4_HUMAN;NP_853551.1;NP_002907.1 "A248T,A302V,A303V,A53G,A91S,V292A,V61M" "0,0,0,0,0,0,0" 5984 9337 sw2967;dbsnp26328 RFC2_HUMAN;NP_852136.1 "A232V,I327M,V51I" "0,0,0" 5982 9553 sw2968;dbsnp21890 RFC1_HUMAN;NP_001191676.1 "A426V,A463T,E692D,G248R,G637S,I598V,I748N,K346R,L717V,P361S,Q1019R,Q101R,Q955K,R613L,S1146L,S18N,T357S,V673L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5981 1561 sw2969;dbsnp12127 T2FA_HUMAN;NP_002087.2 "A3V,D340E,P6L,R206C,R386C,S436L,S7G,S7R,V118I,V87I" "0,0,0,0,0,0,0,0,0,0" 2962 6360 sw297 RHOD_HUMAN C134R 0 29984 12721 sw2971;dbsnp1268 ADML_HUMAN;NP_001115.1 "P85R,S50R" "0,0" 133 13261 sw2972;dbsnp13423;dbsnp13424 SPR1A_HUMAN;NP_001186757.1;NP_005978.2 "H42Q,H50Q,P13T,V61I" "0,0,0,0" 6698 13560 sw2973 SPR2B_HUMAN P39S 0 6701 14865 sw2975;sws335;dbsnp27425 ADA1A_HUMAN;NP_000671.2 "C347R,E465D,G247R,I200S,K414R,P293S,R166K,S154A,S246N,V138L,V375L" "0,0,0,0,0,0,0,0,0,0,0" 148 6293 sw2978;dbsnp24202 ADA1B_HUMAN;NP_000670.1 "R225G,T43I,V51G" "0,0,0" 147 6293 sw2980;dbsnp25278 MAS1L_HUMAN;NP_443199.1 "A264V,A72V,D288E,D375N,E158K,G49D,G49V,I197V,I304T,L251P,M109L,R335L,S10I,S10T,S243R,T56M,T59P,Y108C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116511 9018 sw2981;dbsnp2288 APJ_HUMAN;NP_005152.1 "G333V,K360R,R244C,R62C,V300I,V53M,Y299H" "0,0,0,0,0,0,0" 187 8973 sw2982;spmut2237;dbsnp25229 TSP2_HUMAN;NP_003238.2 "A1025V,A121T,A174D,E159K,E253K,E267K,G735R,G830S,H670L,I1172V,I130T,I931N,I944T,K295E,L375F,N118K,P1089L,P1099L,P178L,P263L,R433C,S298L,T133S,T25M,T359S,V1133F,V1133L,V116I,V287M,V52M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7058 1500 sw2983;dbsnp23221 TSP4_HUMAN;NP_003239.2 "A387P,A420V,A823V,D303N,D957N,G298D,G321R,I467M,I702T,L55Q,M227V,P586T,Q954H,R289W,R297Q,R384Q,R591G,R591W,R882C,T273M,V646I,V646L,V737I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7060 2280 sw2985 DRD3_HUMAN S9G 0 1814 8577 sw2987;dbsnp18058;dbsnp18059;hgmd0613_717 SCN1A_HUMAN;NP_001159435.1;NP_001189364.1 "A1067T,A1326P,A1441P,A1685D,A1685V,A175T,A1783T,A1783V,A239T,A239V,A23V,A30P,A395P,A486T,C1396G,C1588R,C1716R,C1756G,C959R,D1608Y,D1742G,D1866Y,D188V,D194N,D366E,D43Y,D79H,E1238D,E1308D,E1787K,E1795K,E1881D,E1957G,E20D,E725A,E78D,E846K,E954K,F1038L,F1263L,F1463S,F1499L,F1543S,F1661S,F1687S,F1692S,F1707V,F1808L,F1831S,F383L,F403L,F444V,F63L,F902C,F90S,F945L,G1233R,G1433E,G1433R,G1470W,G1480V,G1586E,G1674R,G1749E,G1762E,G177E,G265W,G343D,G950E,G979R,H939Q,H939Y,I1034T,I124N,I1465V,I1545V,I1656M,I171K,I1782M,I1922T,I1955T,I227S,I252N,I91T,K1270T,L1207P,L1265P,L1287P,L1309F,L1355P,L1426R,L1461I,L1475S,L1514S,L1649Q,L783P,L942P,L986F,M145T,M1664K,M1714R,M1780T,M1852T,M1856I,M400K,M934I,M960V,M973V,N1011I,N1367K,N1414Y,N191Y,N985I,P1451L,P1632S,P1668A,P1984H,P358T,Q1450K,Q1450R,Q1489H,Q1489K,R101Q,R101W,R118S,R1245Q,R1575C,R1596C,R1636Q,R1645Q,R1648C,R1648H,R1657C,R1657H,R1924H,R1928G,R27T,R322I,R356G,R377Q,R393C,R393H,R393S,R542Q,R567M,R604H,R712Q,R859C,R862Q,R931C,R946C,R946H,R946S,S103G,S1231R,S1231T,S1713N,S1773F,S259R,S626G,S74P,S886P,T112I,T1174S,T1210K,T1260P,T1300I,T162P,T1658M,T1658R,T1709I,T1721R,T18P,T1909I,T199R,T217K,T226M,T297I,T808S,T812R,T875K,T875M,V1335M,V1353L,V1366I,V1390M,V1428A,V1611F,V1612I,V1630M,V1637E,V1857L,V406F,V422E,V901I,V944A,V944E,V983A,W1204R,W1358S,W1434R,W1726R,W1812G,W190R,W280R,W952G,W957L,Y1422C,Y1462C,Y1694C,Y1781C,Y388H,Y413N,Y426N,Y790C,Y84C" "0,1,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,0,0,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,0,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 6323 418 sw2989;dbsnp18157 UD13_HUMAN;NP_061966.1 "A158G,A158V,A512P,A58T,E464D,F227V,G259R,G309E,L475M,M114I,M208L,M270V,N175Y,N280S,P365L,P452L,Q6R,R404H,R443C,R45W,R49W,S113T,S166L,S489C,S489F,T144I,T169A,T78I,V246L,V47A,W11G,W11R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54659 6067 sw298;spmut109;dbsnp1750 APBB1_HUMAN;NP_001155.1 "A96V,D163E,E462K,G131D,G291R,M327V,N396S,P190L,P60H,R51C,R683W,T251M,V551I,V606G,Y117N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 322 3531 sw2990;dbsnp18155 UD15_HUMAN;NP_061951.1 "A158G,A512P,D50E,E464D,G259R,G309E,H142N,H225Y,I276T,L248I,L475M,L48S,L63P,P365L,P452L,R404H,R443C,R49W,R91H,S489C,S489F,T144S,T3R,V249L,Y68H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54579 6067 sw2992;sws338 CLCN1_HUMAN G118W 0 1180 2150 sw2994;dbsnp1984 SAA4_HUMAN;NP_006503.2 "C89Y,D34V,N94K,R113Q,R120C,R22H,Y82C" "0,0,0,0,0,0,0" 6291 12790 sw2995 UBIM_HUMAN T53I 0 2197 14202 sw2997 FBN1_HUMAN "C224R,C2605R,C472Y,C628K,G1475E,R114C,S1481G,T1401A,T2101M,Y2113F,Y2793H" "1,1,0,1,1,1,0,1,0,0,1" 2200 159 sw2;dbsnp21729 RBM47_HUMAN;NP_001092104.1 "G538R,H120R,I518V,M565V,P65L,T509M" "0,0,0,0,0,0" 54502 5224 sw3000;dbsnp16084 PCKGC_HUMAN;NP_002582.3 "A548T,D186N,E276K,E586D,G435D,I156N,I267V,L300F,L56P,M60T,P3S,P427S,P528L,R436H,R483Q,R55Q,S22G,S364R,S404L,S579R,T138I,V184L,V368I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5105 4693 sw3003;sws340;spmut738;hgmd0613_120 G6PC_HUMAN "A124T,A241T,A65P,D38V,E110K,F177C,F322L,G122D,G184E,G184V,G188D,G188R,G188S,G222R,G266V,G270R,G270V,G270W,G68R,G81R,H119L,H179P,I341N,K76N,L211P,L265P,L345R,M5R,N264K,P113L,P178A,P178S,P257L,Q20R,Q54P,R170Q,R295C,R83C,R83H,R83I,S298P,T108I,T111I,T16A,T16R,T255I,V166A,V166G,V338F,W156L,W236R,W63R,W77R,Y209C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" 2538 9486 sw3005;dbsnp14267 TIE1_HUMAN;NP_005415.1 "A1104V,A419V,D175V,G191S,G216R,G814R,I976M,Q271H,R1014C,R1109C,R1109H,R279Q,R415H,R415L,R589Q,R594W,S470L,S501N,V136M,V448M,V564M,V833M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7075 1591 sw3007;dbsnp14720 SOAT1_HUMAN;NP_003092.4 "A324T,I291T,K531R,Q204E,Q526R,S194C,S33T,V198G,Y431C" "0,0,0,0,0,0,0,0,0" 6646 5839 sw3008;dbsnp21685 ADDA_HUMAN;NP_001110.2 "E376D,E595K,G460W,K467N,K721M,L387M,L387V,N510I,P15L,P624L,R6C,S586C,S586F,V237I,V528M,Y270N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118 3455 sw3009;dbsnp17963;dbsnp17966 ADDB_HUMAN;NP_001608.1;NP_001171983.1 "A635T,D28N,E335D,E335V,E543K,G17E,G69V,K501R,L278V,M133L,R42Q,S663R,S98C,T382M,T439A,T552M,V292L,V408M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119 3819 sw3010;dbsnp11333 BASI_HUMAN;NP_001719.2 "A130T,A360T,D358E,E208K,G269V,R109Q,T141I,T97M,V176L" "0,0,0,0,0,0,0,0,0" 682 8888 sw3012;sws342;dbsnp17517 ARBK2_HUMAN;NP_005151.2 "N60S,R104K,R50S,R516C,S41I,V180I,V409M" "0,0,0,0,0,0,0" 157 4173 sw3014;sws345;dbsnp28387 NU214_HUMAN;NP_005076.3 "A109V,A1352P,A1352T,A1736V,A175D,A1803T,A319T,G1064E,G1318R,G1592A,G1605D,G1931R,I1860T,I765V,K889N,M572V,N2078S,N864S,N918D,P1089L,P1089R,P431S,P574S,P629S,R1014W,R1099Q,R419Q,R741L,R865Q,S1307T,S1746T,S545L,T106I,T1470A,T1614A,T1693I,T733S,V1368M,V1673L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8021 382 sw3015;dbsnp24547 DEK_HUMAN;NP_003463.1 "E236G,E41D,I160L,I160V,V140A" "0,0,0,0,0" 7913 9092 sw3016;dbsnp30106 CYLC1_HUMAN;NP_066941.1 "D383V,D383Y,D399H,E491D,G252R,G457V,H648R,K48Q,L492S,R5T,S296C" "0,0,0,0,0,0,0,0,0,0,0" 1538 4579 sw3019;dbsnp3921 SOX5_HUMAN;NP_008871.3 "A509S,Q362P,S15F,V698M" "0,1,0,0" 6660 3492 sw301;dbsnp7534;dbsnp7535 HAS3_HUMAN;NP_001186209.1;NP_005320.2 "A526G,F550L,G74S,R152H,R173H,R179W,R72C,R72L,T6M" "0,0,0,0,0,0,0,0,0" 3038 11260 sw3022;dbsnp24126;dbsnp24127;dbsnp24128;dbsnp24129 GLRX1_HUMAN;NP_001230588.1;NP_002055.1;NP_001112362.1;NP_001230587.1 "D47Y,T97M" "0,0" 2745 14573 sw3023;dbsnp11960 ZNF93_HUMAN;NP_112495.2 "A349V,C542R,D93Y,F602S,F602V,G337E,I202T,I502N,K388N,K600T,P452H,Q492R,R166G,R67K,S269F,S270A,T273N,V390I,Y397C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81931 4652 sw3024;dbsnp2622 CHKA_HUMAN;NP_001268.2 "D439E,I271N,K323T,L422Q,N169T,S220G,Y359H" "0,0,0,0,0,0,0" 1119 7453 sw3027;sws346;spmut1018;dbsnp9265 K1C20_HUMAN;NP_061883.1 "D213N,E160G,E210D,H208Y,L201V,R166C,S129N,S57R,V413M" "0,0,0,0,0,0,0,0,0" 54474 8056 sw3029 PDE6B_HUMAN "V320I,Y212H" "0,0" 5158 2829 sw302;dbsnp27343 TR10A_HUMAN;NP_003835.3 "D430N,E228A,E319G,E362D,G11V,G357D,G400R,H114R,H141R,K112R,M411T,N297H,P105R,R209T,R441K,S35R,T33I,V326I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8797 7235 sw3031;sws347;spmut2350;dbsnp23033 VGFR3_HUMAN;NP_891555.2 "G1303A,P954S,R1031Q,R1075Q,R1320Q,R1320W,R1321Q,R1324L,V1355M" "0,1,0,0,0,0,0,0,0" 2324 1043 sw3033;dbsnp30139;hgmd0613_1518 MOT8_HUMAN;NP_006508.2 "A150V,G490R,H501R,I323L,L360W,L397P,L438P,L494P,R317C,S120F,S240N,S292N,V161M" "1,1,0,0,1,1,1,1,0,1,0,0,1" 6567 4988 sw3034;dbsnp13169 CH3L1_HUMAN;NP_001267.2 "A349T,A382S,D343N,D64N,G313S,I311T,K108T,P124A,R128H,R145G,R213C,R224Q,R286P,R35Q,R369G,S230N,S333I,T8I,Y206H,Y328H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1116 7082 sw3035;dbsnp17520 GGT5_HUMAN;NP_004112.2 "A160V,E465K,I475V,K330R,L11I,Q332H,R3W,R437Q,R437W,R547H,S10G,T78I" "0,0,0,0,0,0,0,0,0,0,0,0" 2687 5315 sw3036;sws349;dbsnp15558;dbsnp15559;hgmd0613_1345 CXA5_HUMAN;NP_859054.1;NP_005257.2 "A96S,L221I,L229M,P265S,R332H,V85I" "1,1,1,1,0,1" 2702 9473 sw3037;spmut137;dbsnp1525 ARL2_HUMAN;NP_001658.2 "G117R,R139C,R179C,V141A" "0,0,0,0" 402 13279 sw3038;spmut138;dbsnp1218 ARL3_HUMAN;NP_004302.1 "L34M,V56I" "0,0" 403 13279 sw3039;spmut2212;dbsnp23767 TRI23_HUMAN;NP_001647.1 "D480N,G545A,S481G" "0,0,0" 373 5496 sw303;spmut949;dbsnp24737 IKBE_HUMAN;NP_004547.2 "A17D,A80V,C109Y,H95Q,M450T,P175L,R311W,R320Q,S122N,V194A" "0,0,0,0,0,0,0,0,0,0" 4794 6657 sw3041;dbsnp24710 ZNF76_HUMAN;NP_003418.2 "A134T,A457V,A558P,D126V,D492V,D511G,G261D,G482V,G530E,I501V,L119S,L446V,R272C,R403Q,S566L,T318M,T48M,V19I,V410M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7629 4714 sw3043;dbsnp30147 ARRC_HUMAN;NP_004303.2 "L44F,P345S,P351L,P351R,R166Q,S299C" "0,0,0,0,0,0" 407 8830 sw3044;spmut11 8ODP_HUMAN V124M 0 4521 13028 sw3045;spmut1126;dbsnp11123 LONM_HUMAN;NP_004784.2 "A160T,A229V,A256V,A606V,A829T,A848T,A946T,A952V,D248N,E87D,I910V,K244Q,N277D,R241Q,R538H,R904H,S176L,T263I,T644A,V437I,V497I,V626M,V641F,V641I,V662G,V675L,V911I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9361 2288 sw3048;sws351;spmut708;dbsnp4992 FLT3_HUMAN;NP_004110.2 "A450V,A988P,D324N,D358V,D7G,G238V,G493E,G493V,I417L,L198F,L984F,Q771P,R243K,R973Q,T150I,T227M,V158A,V16L,V194M,V557I,V795I,W462R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2322 2134 sw304;dbsnp26002 GRM8_HUMAN;NP_000836.2 "A128P,A128S,A513V,D285N,F21C,F362Y,G368D,H302R,H32Q,I265T,I338N,I768N,K872R,L430F,M564V,P512A,R343Q,R392Q,R7Q,S10C,S902I,V158M,V548G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2918 2488 sw3050;spmut46;dbsnp4374 ACV1B_HUMAN;NP_004293.1 "F146L,I456V,L408V" "0,0,0" 91 5901 sw3052;dbsnp3413 TNR3_HUMAN;NP_002333.1 "A229S,A311V,G163D,G398R,S146F,S305P,V274I,W92C" "0,0,0,0,0,0,0,0" 4055 7854 sw3056;dbsnp6123 ODO2_HUMAN;NP_001924.2 "D304G,F251Y,G147D,I50F,L210P,P164S,P204L,P213A,P384T,R14C,R355P,R355Q,T348A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1743 7524 sw3057;dbsnp24479 GMPR1_HUMAN;NP_006868.3 "A231D,A234T,A279T,D300V,F256I,G233A,N341S,R34C,T37M,V66M" "0,0,0,0,0,0,0,0,0,0" 2766 9284 sw3058;spmut801;dbsnp11767 GPX4_HUMAN;NP_002076.2 "A120T,S131G,S2N" "1,0,0" 2879 12263 sw305;dbsnp8950 PSD12_HUMAN;NP_002807.1 "P119L,V358A" "0,0" 5718 7461 sw3061;dbsnp7818 DHB2_HUMAN;NP_002144.1 "A121T,A258V,A331V,C20Y,G271C,H366Y,I300V,M226V,T108R,T175N,T240S" "0,0,0,0,0,0,0,0,0,0,0" 3294 8852 sw3063;dbsnp6366 SRP14_HUMAN;NP_003125.3 "A127T,P124A,P51S,S68I,T125A,T130A" "0,0,0,0,0,0" 6727 14146 sw3067;dbsnp27324 FDFT_HUMAN;NP_004453.3 "H417Q,K45M,K45R,L104F,L392P,N330S,R203H,S356C,Y105S" "0,0,0,0,0,0,0,0,0" 2222 8237 sw3069;dbsnp30263 PIGA_HUMAN;NP_002632.1 "D40H,G239R,G474R,G474V,G48A,G48D,G48V,H128R,N297D,S155F,Y236S" "1,1,0,0,1,1,1,1,1,1,0" 5277 6930 sw306;dbsnp3290 PSMD9_HUMAN;NP_002804.2 "E197G,G49D,N166S,R122H,R134W,R64Q,S121C,T74I,V17A" "0,0,0,0,0,0,0,0,0" 5715 12471 sw3071;dbsnp14463 TAGL2_HUMAN;NP_003555.1 "I29V,L69Q,P159H,Q15R,Q46L" "0,0,0,0,0" 8407 12940 sw3077;sws356;spmut925;dbsnp26770;dbsnp26771;dbsnp26772;dbsnp26773 HYALP_HUMAN;NP_694859.1;NP_001167515.1;NP_001167516.1;NP_001167517.1 "D448N,D451V,F6S,P232A,P421L,R305H,T360A,V47A,Y277H" "0,0,0,0,0,0,0,0,0" 6677 6461 sw3078;spmut997;dbsnp8505 ITAE_HUMAN;NP_002199.3 "A1029V,A351V,A499S,A692T,C1041S,D170H,D360E,E1064K,E955K,F604S,G571R,G719A,G982R,H621Q,I1145V,I477V,K182E,L668M,P46S,P640A,Q245K,Q892H,R482Q,R564S,R950W,S1045W,T323M,T392A,T637M,T838A,T859S,V1019A,V787I,W1052G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3682 1482 sw3080;dbsnp23795 GRP75_HUMAN;NP_004125.3 "A225G,A476T,H184Y,N149S,Q74R,R127G,V67M" "0,0,0,0,0,0,0" 3313 4277 sw3084;dbsnp17880 RL3_HUMAN;NP_000958.1 "A398T,I78T,R378C,T54S" "0,0,0,0" 6122 8438 sw3085;dbsnp28359 COFA1_HUMAN;NP_001846.3 "A1148V,A200T,A442T,D457G,E506D,F851L,G1047D,G1065D,G1293D,G1295R,G342S,G446R,G504V,G594V,G600S,G676R,G984A,G984D,G987R,I1157V,I1184L,I1304M,I1312L,I258M,I47V,K1001R,K775Q,K989R,L1019R,M166V,M204L,M204V,M422I,P1063L,P1192A,P531R,P535L,P645S,P660L,P660Q,P705L,P714S,R1168C,R1232Q,R1242K,R1333C,R163H,R913C,S1052F,S191P,T1155A,T391M,V1332I,V224M,V961I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1306 1001 sw3086 COIA1_HUMAN "A288T,D1675N,Q49L,T379M" "0,0,0,0" 80781 584 sw3087;dbsnp16923 GRIK1_HUMAN;NP_000821.1 "A332V,A870V,E55K,I450T,I757V,L183I,L902S,Q636R,R337Q,R862Q,S18R,Y167C" "0,0,0,0,0,0,0,0,0,0,0,0" 2897 2501 sw3089 OST48_HUMAN "G217D,R8G" "1,0" 1650 7463 sw308;dbsnp16184 SIRB1_HUMAN;NP_006056.2 "A350V,A363P,A398V,D31E,D324G,E39D,E94D,I229M,I229V,I232V,I78F,K305R,L33V,L371H,N188S,P176S,R124Q,R124W,R218H,R23G,R240C,R250Q,R53H,R88W,S104F,S106R,S108G,S153L,T180I,V62L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10326 6578 sw3090;dbsnp15700;hgmd0613_527 PA2G5_HUMAN;NP_000920.1 "G45C,G49S,R123Q" "1,1,0" 5322 14116 sw3091;dbsnp1520 MMP12_HUMAN;NP_002417.2 "A13V,D96N,G469R,I338V,N357S,N357T,V432I" "0,0,0,0,0,0,0" 4321 7200 sw3093;dbsnp17981;dbsnp17982 CAPG_HUMAN;NP_001243068.1;NP_001738.2 "G100D,H335R,I5V,K227R,K265N,M1I,R149H,R149P,R198W,S200G,V41I" "0,0,0,0,0,0,0,0,0,0,0" 822 3337 sw3094;dbsnp25337 CAP2_HUMAN;NP_006357.1 "P310T,T311A,Y316C" "0,0,0" 10486 7058 sw3095;sws357;dbsnp27509 ADCY8_HUMAN;NP_001106.1 "A204S,A80T,A824V,I1036T,L1117V,M208V,R611G,R611W,R772Q,T220A,T249S,V413I,V856I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 114 1274 sw3096;sws358;spmut959;dbsnp23146 IL6RB_HUMAN;NP_002175.2 "A95T,D745E,E842G,G148R,I454T,I510V,K241E,L397V,L8V,P355L,P434R,R300C,R792W,S737F,V252F,V252I,V499I,V885I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3572 2508 sw3097;spmut331;dbsnp12291 CEAM3_HUMAN;NP_001806.2 "A93P,E133G,I240M,L78Q,Q60H,S77R,S7P,T103P,V112F,V83A,Y95N" "0,0,0,0,0,0,0,0,0,0,0" 1084 4058 sw3098;dbsnp11886 CEAM6_HUMAN;NP_002474.3 "A46T,A55T,D159H,D209N,E133G,G239V,G307C,G332S,G85E,I316N,P93A,R225C,R225H,T100I,T276M,T32I,T41M,V157M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4680 4058 sw30;dbsnp12096 ILVBL_HUMAN;NP_006835.2 "A192V,A60V,D302N,F519S,I143V,N374D,N374S,P229S,P260R,R275H,R305Q,R327H,R377G,R423W,R510Q,V402M,V58M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10994 4769 sw3101;dbsnp26572 TCPZ_HUMAN;NP_001753.1 "A401G,A468G,E201G,L231F,L56V,T92M,Y229C" "0,0,0,0,0,0,0" 908 6109 sw3104;dbsnp5609 IFI27_HUMAN;NP_005523.3 "A55V,S106F,S60L,T87N,T87S" "0,0,0,0,0" 3429 14411 sw3105;dbsnp7437 CTRL_HUMAN;NP_001898.1 "C220F,E151Q,G20S,G61S,H173R,I24F,Q48H,S112N,S15Y,T150I,T154M,T236I,V104A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1506 11599 sw3107;dbsnp21732 ADH7_HUMAN;NP_000664.2 "A290S,G271D,G333V,G92A,H64R,I232T,K238E,K45R,M245V,R132H,R50H,S127R,V361I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 131 8715 sw3108;spmut139;dbsnp26845;dbsnp26846;dbsnp26847;dbsnp26848 ARL4A_HUMAN;NP_005729.1;NP_001182325.1;NP_001032241.1;NP_997625.1 "C30G,G2E,R139K,R39S" "0,0,0,0" 10124 12939 sw310;spmut1465;dbsnp23232 PAR3_HUMAN;NP_004092.1 "A151T,A168D,A55T,I195F,I230L,L15S,M177V,N250D,P227S,R202Q,V217L" "0,0,0,0,0,0,0,0,0,0,0" 2151 9108 sw3111;spmut2311;dbsnp6657;dbsnp6658;dbsnp6659 UBP8_HUMAN;NP_001122083.1;NP_001122082.1;NP_005145.3 "A348T,A827G,D212N,D443G,I791V,K195E,K388E,L268I,L776P,R322Q,R444C,R483Q,R763W,S986N,T692I,T739A,T785A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9101 1663 sw3113;dbsnp25903 MDHM_HUMAN;NP_005909.2 "A66T,A9V,D217G,G243R,K301R,K328Q,R229G,V121G,V139I" "0,0,0,0,0,0,0,0,0" 4191 9943 sw3114;dbsnp3965 RFC5_HUMAN;NP_031396.1 "A13T,K7R" "0,0" 5985 9898 sw3115;dbsnp5033 RFC3_HUMAN;NP_002906.1 "A337S,I189T,L16V" "0,0,0" 5983 9513 sw3117;dbsnp3612 PMEL_HUMAN;NP_008859.1 "A362V,E370D,G325V,G505S,L389P,N229S,P297H,P320H,P363S,P597L,P98S,R192Q,S220F,S562L,T447M,V26A,V596A,W32C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6490 4399 sw3118;dbsnp30161;hgmd0613_769 IF2G_HUMAN;NP_001406.1 K125R 0 1968 7162 sw3119;dbsnp16846 ID1_HUMAN;NP_002156.2 "N63D,P84S,V115L" "0,0,0" 3397 13811 sw311;sws8 MEN1_HUMAN "E364K,K135I,R532C,T546A,V245F" "1,1,1,0,1" 4221 4967 sw3121;dbsnp27793 OPRK_HUMAN;NP_000903.2 "D374H,D374N,I133T,I373M,K200E,Y119F" "0,0,0,0,0,0" 4986 6800 sw3123;dbsnp20307 ETV5_HUMAN;NP_004445.1 "K348R,L149I,L149V,Q74H,R195Q,Y112C" "0,0,0,0,0,0" 2119 6465 sw3126;spmut208;dbsnp20112;dbsnp20113 BCL6_HUMAN;NP_001697.2;NP_001124317.1 "A493T,D210N,E164D,E393G,H676Y,L144H,M418L,N252S,N389S,Q397H,R160H,R325Q,R402H,R459C,R459H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 604 4024 sw3127;dbsnp15004 EIF2D_HUMAN;NP_008824.2 "E303K,K421E,L33F,Q126L,Q328K,S199G,T210I,T259M" "0,0,0,0,0,0,0,0" 1939 5348 sw3129;dbsnp13744 MNDA_HUMAN;NP_002423.1 "F247S,H357Y,I93T,N405D,P190L,P403L,R379H,S156R,T178I,V200G,V286L" "0,0,0,0,0,0,0,0,0,0,0" 4332 3317 sw312;dbsnp17137 WRB_HUMAN;NP_004618.2 "A51V,R93Q,V110I,V126I" "0,0,0,0" 7485 13471 sw3131;spmut1646;dbsnp29417 PTGDS_HUMAN;NP_000945.3 "E90K,Q31L,R56Q,R85G,T188M" "0,0,0,0,0" 5730 13163 sw3132;dbsnp30687 SOX3_HUMAN;NP_005625.2 "A43T,I26T" "0,0" 6658 7652 sw3133;dbsnp20322 UBA7_HUMAN;NP_003326.2 "A409S,E93A,F782V,G534D,H288Y,H817R,L392H,L392P,P712S,R152W,R331Q,R414H,R474C,R501W,R531H,R546C,R839H,R839P,R878C,T905M,V155M,V509M,Y735C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7318 2058 sw3134;dbsnp30096;hgmd0613_1073 NAA10_HUMAN;NP_003482.1 "A94S,S37P" "0,1" 8260 12222 sw3136;dbsnp1736;dbsnp1737;dbsnp1738 P2RY2_HUMAN;NP_002555.2;NP_788086.1;NP_788085.1 "A329D,D17G,H184Q,N28K,P366R,P46H,P46L,R146G,R312S,R333P,R334C,S359P,V263A,V77A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5029 9034 sw313;dbsnp16740 TAF4_HUMAN;NP_003176.2 "H39P,P651L,R1071H,R491H,S715G,T558M" "0,0,0,0,0,0" 6874 1769 sw3140;dbsnp29777;dbsnp29778 PLPL4_HUMAN;NP_004641.1;NP_001135861.1 "D134G,R187Q,T178K,V113I,V48G" "0,0,0,0,0" 8228 11838 sw3142;dbsnp28411;dbsnp28412 SYIC_HUMAN;NP_002152.2;NP_038203.2 "A222G,E274G,E317D,E317G,K1182E,M769I,N118D,N302Y,Q4K,S136N,S376G,T1238I,T684M,T914M,V1046I,V1243M,V834M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3376 1247 sw3143;dbsnp11361 TNFL9_HUMAN;NP_003802.1 "A177T,D80Y,G139A,G247R,I103M,I103N,I103V,P17A,R150Q" "0,0,0,0,0,0,0,0,0" 8744 11817 sw3144;dbsnp51;dbsnp52 M3K8_HUMAN;NP_005195.2;NP_001231063.1 "A196V,D447N,P390L,R59C,R77K,S214F" "0,0,0,0,0,0" 1326 7254 sw3146;dbsnp8511 EIF1_HUMAN;NP_005792.1 "L59P,R90G" "0,0" 10209 14501 sw3148;dbsnp18809 5HT2B_HUMAN;NP_000858.3 "A390T,F173L,G51E,K280T,L54V,M421V,M43V,Q45E,R388W,R400Q,R418W,V208L,V7M,W31R,Y5S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3357 6982 sw314;dbsnp25015 GPR31_HUMAN;NP_005290.2 "A203V,E212K,H246Y,H91R,I152M,N124H,P189A,R112Q,R115C,R98H,S264L,S97N" "0,0,0,0,0,0,0,0,0,0,0,0" 2853 10408 sw3151;sws361;spmut1082;dbsnp21563 KPCI_HUMAN;NP_002731.4 "N62K,R130C,V535L" "0,0,0" 5584 5180 sw3153;dbsnp4316 ELK3_HUMAN;NP_005221.2 "A208V,A264P,A315V,M226I,P169L,S270Y,T204M" "0,0,0,0,0,0,0" 2004 8435 sw3154;dbsnp18964 ACTY_HUMAN;NP_005726.1 "A143V,A296T,D85A,M45L,M45V,N133K,V127A,V268F,V93A" "0,0,0,0,0,0,0,0,0" 10120 1801 sw3155 CD86_HUMAN V185I 0 942 10159 sw3156;dbsnp16168 ASIP_HUMAN;NP_001663.2 "I62V,N43K,P26L,Q61P,V13A" "0,0,0,0,0" 434 14215 sw3158;dbsnp3488 LAP2B_HUMAN;NP_001027454.1 "A287P,L427F,R342W,V425G" "0,0,0,0" 7112 4124 sw315;spmut879;dbsnp26662 HIP1_HUMAN;NP_005329.3 "A638T,D322N,D749N,E961K,I794V,L615F,L817S,M263K,Q936R,R259W,R526W,S276F,S35T,T1028I,T972M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3092 1950 sw3160;dbsnp3824;dbsnp3825;dbsnp3828 STAT6_HUMAN;NP_001171549.1;NP_003144.3;NP_001171550.1 "D419N,D91E,L824V,M181R,Q104K,Q633H,S220N,T803N,V269I,V714M" "0,0,0,0,0,0,0,0,0,0" 6778 2913 sw3161;dbsnp8940 STA5A_HUMAN;NP_003143.2 "A187G,R389H,R770Q,S780L,V209A,Y114C" "0,0,0,0,0,0" 6776 3258 sw3162;dbsnp23671 GRIA1_HUMAN;NP_000818.2 P521T 0 2890 2523 sw3163 GRIA2_HUMAN "Q607R,Q608R" "0,0" 2891 2523 sw3164 GRIA3_HUMAN F525L 0 2892 2523 sw3165;dbsnp23845 SK2L2_HUMAN;NP_056175.3 "A346P,D89G,K635R,Q927R,S432C" "0,0,0,0,0" 23517 1928 sw3166;spmut74;dbsnp30 AK1C3_HUMAN;NP_003730.4 "A106T,A290V,A52G,C154W,E59K,E77G,H5Q,K104N,K183M,K183R,M175I,N178S,P180S,P195L,R170C,R258C,R47C,R66Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8644 10233 sw3169;spmut1548;dbsnp20478 PK3CB_HUMAN;NP_006210.1 "D94A,E770K,N187S,N717S,Q672H,S631N,V199I,V338I,V479G,V789G" "0,0,0,0,0,0,0,0,0,0" 5291 1818 sw3170;sws363;dbsnp14791 MTOR_HUMAN;NP_004949.1 "A1134V,A329T,H1647Q,I1614T,I637V,M1083V,N161S,N382S,Q1729H,Q2194L,Q2194R,R1616C,S1178F,V1885I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2475 227 sw3174;dbsnp21791;dbsnp21792 CASP3_HUMAN;NP_004337.2;NP_116786.1 "A183V,D228N,E190D,H22R,H277Y,R101H" "0,0,0,0,0,0" 836 9994 sw3175;spmut269;dbsnp26337 CASP2_HUMAN;NP_116764.2 "A105G,A19T,C145R,P178A,R265G,R441C,R441G,S433A,V172L,V240I,V240L" "0,0,0,0,0,0,0,0,0,0,0" 835 7549 sw3176 DPP6_HUMAN L854P 0 1804 2798 sw3177;sws364;dbsnp12154 MATK_HUMAN;NP_647612.1 "A496T,E481D,G15S,R106Q" "0,0,0,0" 4145 6519 sw3178;sws365;dbsnp22521 TEC_HUMAN;NP_003206.2 "A86V,E481K,R44Q,T39A,T442I" "0,0,0,0,0" 7006 4489 sw3179;spmut2249;dbsnp22156 TXK_HUMAN;NP_003319.2 "A172S,C19F,E313D,R336Q,R45H,R63C" "0,0,0,0,0,0" 7294 4489 sw3180;sws366;dbsnp14779 ABL2_HUMAN;NP_009298.1 "E99Q,F357C,K930R,P608S,P996R,R519I,R78H,S1085N,S1098N,T1101A,T769S,T784S,V946M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 27 1473 sw3181;spmut724;dbsnp24949 FRK_HUMAN;NP_002022.1 "D125E,G119A,G122R,I100V,I393R,P115L,R451K,S133L,V161I,V362A,Y99F" "0,0,0,0,0,0,0,0,0,0,0" 2444 6559 sw3182 HELZ_HUMAN "A1530V,C48R,V74M" "0,0,0" 9931 457 sw3183;dbsnp2262 CNDD3_HUMAN;NP_056076.1 "A65T,A884V,C471S,C760G,D661Y,D662N,E189Q,G1277R,G576D,H1407Q,I1032V,I188T,I307M,I42T,K1359Q,K939R,L581V,M392V,N753D,P1163A,P1298L,P1377S,P166L,P907T,Q1260H,R1448W,R1490Q,R622Q,R652G,R652W,R731K,S1034R,S715L,T1388M,V1284A,V1312M,V535A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23310 829 sw3187;dbsnp10518 THIM_HUMAN;NP_006102.2 "G57R,G57V,G6D,M217V,R224W,T396I" "0,0,0,0,0,0" 10449 8638 sw318;sws9;dbsnp11386 TULP2_HUMAN;NP_003314.2 "A18T,D11H,D251N,D345G,E245K,F519L,G122S,M9T,N207K,N520S,P50R,R174H,R262H,R325S,R344Q,R344W,R418Q,S143F,S179T,S181T,T248M,T468I,V297M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7288 6291 sw3193 HD_HUMAN "D2113Y,E1382A" "0,0" 3064 130 sw3198;dbsnp18096 SATT_HUMAN;NP_003029.2 "A14T,E219A,E486K,E486Q,G37R,G439E,I438T,K484E,V289M,V399I" "0,0,0,0,0,0,0,0,0,0" 6509 5971 sw31;dbsnp3656 TSN11_HUMAN;NP_001073978.1 "A59T,C192Y,F101L,G229R,R173W,R250Q,T6P,T92M,V190A" "0,0,0,0,0,0,0,0,0" 441631 11835 sw3202;dbsnp12842;dbsnp12844;dbsnp12847 PE2R3_HUMAN;NP_001119516.1;NP_942007.1;NP_942012.1 "A33E,G42R,M169L,N366S,P375L,R34P,T319M" "0,0,0,0,0,0,0" 5733 8217 sw3204;dbsnp2699 MUC18_HUMAN;NP_006491.2 "A310V,A543T,D643Y,E183D,E89G,G303R,K616E,L394M,P539S,S285N" "0,0,0,0,0,0,0,0,0,0" 4162 4625 sw3205;sws370;spmut464;dbsnp10334 DCC_HUMAN;NP_005206.2 "A1051S,A455V,D66N,F23L,G1061V,G470D,H1191L,I1116F,I546T,I759M,K419R,K640T,L679R,M1017V,M168T,N248K,N635S,N702S,P1375H,Q486L,Q559R,R201G,R215L,S1202I,T1210P,T156A,V621M,V883I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0" 1630 887 sw3206;spmut255 CACP_HUMAN L372M 0 1384 4832 sw320;dbsnp1602 EIF3F_HUMAN;NP_003745.1 "A240V,F232V,G88C,L334F,P12L,P165A,P19S,P39L,T14M,W172L" "0,0,0,0,0,0,0,0,0,0" 8665 9487 sw3211;sws372;spmut808;dbsnp23263 GRK6_HUMAN;NP_001004106.1 "A258T,A292T,D163H,E89K,R123L,R123Q,R132Q,R575H,S365T,T73M,V334M,V404D" "0,0,0,0,0,0,0,0,0,0,0,0" 2870 5266 sw3213;spmut644;dbsnp9644;dbsnp9645 ETV4_HUMAN;NP_001977.1;NP_001073143.1 "A426V,E425K,F195I,G293R,H175N,I360V,L205P,P115S,P333L,Q186R,R437C,T264M,T93S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2118 6931 sw3215;dbsnp24277 SSRA_HUMAN;NP_003135.2 "A54T,L28S,L4F,R199T,R6G" "0,0,0,0,0" 6745 11172 sw3217;dbsnp3962 RAD52_HUMAN;NP_602296.2 "E34G,G59R,Q221E,R396C,R70W,S287N" "0,0,0,0,0,0" 5893 8199 sw3218;sws373;spmut1163;dbsnp29725 MAGA1_HUMAN;NP_004979.3 "A100V,A63T,D258A,E78K,K134N,P37L,R298G,R72Q,T32A" "0,0,0,0,0,0,0,0,0" 4100 9214 sw3219;sws374;dbsnp29617;dbsnp29618;dbsnp29619;dbsnp29620 MAGA4_HUMAN;NP_002353.3;NP_001011548.1;NP_001011549.1;NP_001011550.1 "A173T,A268V,E314K,G264S,G316R,L191V,P31S,R139S,S41F,T178I,T238S,V16I,V231L,Y270C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4103 7959 sw3220;dbsnp29580 MAGA5_HUMAN;NP_001191740.1 "G24V,G94R,M1V,Q29H,S83Y" "0,0,0,0,0" 100533997 7959 sw3221;dbsnp30035;dbsnp30036 MAGA6_HUMAN;NP_005354.1;NP_787064.1 "D60H,F271L,G141R,G233W,G296E,I205V,I279L,I279V,K115E,K198R,K211R,R125Q,S152I,V113L,V175L,Y249H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4105 7959 sw3222;dbsnp30111;dbsnp30112;dbsnp30113 MAGA8_HUMAN;NP_005355.2;NP_001159872.1;NP_001159873.1 "A68V,D84N,E13K,N148S,R121H,R301H,R9C,S306F" "0,0,0,0,0,0,0,0" 4107 7959 sw3223 MAGA9_HUMAN P31H 0 728269 7959 sw3224 MAGAA_HUMAN "R166K,V234I" "0,0" 4109 9214 sw3225;dbsnp29781 MAGAB_HUMAN;NP_005357.2 "A138S,D40Y,E130K,I94L,M36T,Q4P,S191R,S251R" "0,0,0,0,0,0,0,0" 4110 7959 sw3226;dbsnp30158;dbsnp30159;dbsnp30160 MAGAC_HUMAN;NP_001159859.1;NP_001159858.1;NP_005358.2 "E57D,I172F,N254S,R51G,S138T,V279I" "0,0,0,0,0,0" 4111 7959 sw3227;dbsnp29831;dbsnp29832;dbsnp29833 MAGB1_HUMAN;NP_002354.2;NP_803134.1;NP_796379.1 "C76F,G172S,R12H,R197G,R267C,R326C,V178I,Y123N" "0,0,0,0,0,0,0,0" 4112 9734 sw322;dbsnp14728;dbsnp14729;dbsnp14730 CDC7_HUMAN;NP_001127892.1;NP_003494.1;NP_001127891.1 "A38E,A38T,E209D,F162L,G112W,I208M,I267T,I60F,I99V,K212T,K441R,N226S,Q106R,Q23P,S335N,S498A,T472I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8317 5493 sw3230;sws376;dbsnp17907 RANG_HUMAN;NP_002873.1 "A145V,D10Y" "0,0" 5902 12938 sw3231;dbsnp15657 TNR4_HUMAN;NP_003318.1 "G68R,I165T,L98P,P157L,R10C,R185G" "0,0,0,0,0,0" 7293 11325 sw3232;spmut1068 KI2L1_HUMAN "A9V,D184N,F66Y,H203R,K237E,P135L,P175T,P37R,R266C,V111L,V5F" "0,0,0,0,0,0,0,0,0,0,0" 3802 7486 sw3234;dbsnp10940 KI2L3_HUMAN;NP_056952.2 "A304T,C269Y,C270S,F66Y,H192Q,H245Y,H34Q,H71R,I258V,L15W,L32R,M157R,N307D,P135L,P229L,P37R,Q56E,R152W,R162T,R203H,R242I,R267C,R267L,R318H,R62T,S227R,S320F,T221I,V276A,V9A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3804 7486 sw3236;dbsnp10955 KI3L2_HUMAN;NP_006728.2 "A108T,A228P,A299D,A378P,C404R,E158D,G450S,G73S,I252T,K439Q,L113V,L206F,L422P,M373I,P132T,P40A,R166H,R298H,R34W,R41Q,R96P,R99H,S415C,T397M,V454F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3812 7486 sw3237 KI2S2_HUMAN "K237E,K254N" "0,0" 3804 7486 sw3238;dbsnp11124 KI2S4_HUMAN;NP_036446.3 "A205S,A276S,A95E,D271N,E281G,G102S,G24E,H37P,H71R,I255L,I7S,K254N,K65M,L111F,N178H,N68D,P105T,P186L,P241L,P89R,P92H,S103C,S151T,S290R,T146S,V25A,V93D,Y98D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3809 7486 sw3239;dbsnp21932 AFAM_HUMAN;NP_001124.1 "A352E,A352V,E357G,F14V,L258P,N200I,N200Y,Q211K,R27Q,R395H,S157T,T281S,T404S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 173 5146 sw323;dbsnp11383 UPK1A_HUMAN;NP_008931.1 "A4V,A9V,E202K,G223S,G71S,I155T,I250M,M257T,R88C,S33A,T95M,V153L,V182M,V98L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11045 11738 sw3248;dbsnp17218 ABCG1_HUMAN;NP_004906.3 "A210T,F668L,G246S,G358R,S17N,S181L,T24M" "0,0,0,0,0,0,0" 9619 4286 sw3249;dbsnp23063 PPIC_HUMAN;NP_000934.1 "A72P,G158S,H160L,K86R,N136K,N190D,N190S,T189A,V207A" "0,0,0,0,0,0,0,0,0" 5480 12604 sw324;spmut1411;dbsnp1618;hgmd0613_1071 ODPX_HUMAN;NP_003468.2 "D370V,E214Q,F445V,I377V,K488E,L197M,N270S,R123Q,R181Q,R189H,R23C,R24G,R444K,S245L,T101A,T225M,V326L,Y16S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8050 6629 sw3250;dbsnp1182;dbsnp1183 VDAC2_HUMAN;NP_003366.2;NP_001171752.1 "A24V,K172I,K172R,T7I" "0,0,0,0" 7417 10675 sw3254;sws380;dbsnp10253 MP2K4_HUMAN;NP_003001.1 "N234I,N342S,S16R" "0,0,0" 6416 8600 sw3255;dbsnp6 KI67_HUMAN;NP_002408.3 "A1059V,A1493D,A2070V,A2171V,A2188G,A2796V,A2846T,A872V,D1252E,D1428E,D170E,D2579V,D2751N,D2760G,D663G,E1107D,E1403V,E1968D,E2109V,E2658G,E3102G,E497D,G1042S,G1226V,G2023E,G216E,G2196C,G3174R,H158R,I2101T,I2205V,I631L,K1144E,K1756E,K2986E,K3217E,K3235R,K977N,L1166P,L1221V,L1470W,L1806V,L1951I,L2200F,L2290S,L2486P,L2565F,L339R,L854V,N104S,N2363S,N3097D,P1444S,P1622L,P1877L,P1944H,P1988A,P2086R,P2107L,P2204A,P2390S,P2608L,P2636L,P2669S,P2842S,Q1863L,Q2084P,Q2904R,Q2926K,Q574P,R123H,R1817T,R1876Q,R1940W,R2379L,R2379Q,R2503W,R2549C,R2554C,R2607H,R2649H,R2664K,R2786Q,R2845H,R290H,R3013G,R3013L,R3114I,R595C,R633P,R633Q,R832Q,R832W,S2793N,S289L,S575N,T1120S,T1247I,T1484A,T1849A,T2337N,T2389R,T2720P,T2743P,T2781I,T2868S,T3007M,T3150S,T435M,T708A,V1363L,V1400L,V1559M,V2006A,V2248I,V2262L,V323M,V3242I,V676G,V702A,W238R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4288 119 sw3259;spmut1701;dbsnp17687 RAGP1_HUMAN;NP_002874.1 "A134V,A233T,A309G,E133Q,G291S,I108V,Q340E,R401G,R412G,R412W,V18M,V266G" "0,0,0,0,0,0,0,0,0,0,0,0" 5905 5307 sw325;dbsnp6574 S28A1_HUMAN;NP_004204.3 "A190S,A230V,A256S,A26D,A429T,A55T,A584T,D521N,E34G,G520S,I326T,I85T,N409S,N627S,P16L,P44T,Q237K,R147H,R510C,R594S,R620H,S13C,S43N,S546P,V189I,V279I,V338A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9154 13461 sw3260;spmut1731;dbsnp3260;dbsnp3261 RECQ1_HUMAN;NP_002898.2;NP_116559.1 "C270Y,C321Y,D495H,F300I,K487T,K544M,T134I,T29M,V102I,V136I,V178E,V372I" "0,0,0,0,0,0,0,0,0,0,0,0" 5965 4597 sw3261;dbsnp3518 NOP2_HUMAN;NP_001245237.1 "A672P,D137N,L73S,L760F,P571T,Q737R,R102Q,R167Q,R313Q,T140M,W180C,Y442C" "0,0,0,0,0,0,0,0,0,0,0,0" 4839 2932 sw3262;dbsnp13103 GPR3_HUMAN;NP_005272.1 "A27G,A27P,R222H,R325H,V311L" "0,0,0,0,0" 2827 9375 sw3263;dbsnp18661;dbsnp18662 GPR1_HUMAN;NP_001091669.1;NP_005270.2 "A293G,C349R,E338G,I307V,S124G,T7I,V50L" "0,0,0,0,0,0,0" 2825 9537 sw3264;dbsnp12195 GPR4_HUMAN;NP_005273.1 S295N 0 2828 9356 sw3265;spmut8 5HT3A_HUMAN "P391R,R409Q" "0,0" 3359 6381 sw3267;dbsnp18014;dbsnp18015 IF2M_HUMAN;NP_002444.2;NP_001005369.1 "A240S,I685V,K139I,K89T,L341F,M690L,R478H,R601C,R601H,T59N,V549L,V556I,Y114H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4528 3809 sw3268;spmut197;dbsnp24515 BAG6_HUMAN;NP_004630.3 "A156P,A274V,A48V,A728V,G78E,M172T,M361V,M955V,P1034L,P472A,P481L,Q190E,S625P,V894L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7917 1619 sw3269;dbsnp13571 GSTM5_HUMAN;NP_000842.2 "A67T,I64M,I70V,K173N,L114Q,L179P,N107K,R145W,R187C,R187H,R78C,S217G,W147R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2949 12429 sw3270 NSF_HUMAN T476M 0 4905 3664 sw3274;dbsnp5616 BKRB1_HUMAN;NP_000701.2 "A216V,A250V,D34V,F19L,G241R,H141Y,L191V,P41L,R243C,R317Q,R352W" "0,0,0,0,0,0,0,0,0,0,0" 623 9583 sw3275;dbsnp24887 IEX1_HUMAN;NP_003888.2 "A127P,A142V,P110L" "0,0,0" 8870 13794 sw3276;sws381;dbsnp4061;dbsnp4062 SO1A2_HUMAN;NP_602307.1;NP_066580.1 "A187T,E172D,E648K,I13T,I183T,I281V,I355V,I449M,I561V,I91T,L323P,N128Y,N135I,R168C,R168H,S405C,S405F,T224A,T475M,T668S,V416D,V416I,Y566H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6579 4366 sw3277;spmut1262;dbsnp9059 MP2K3_HUMAN;NP_659731.1 "A311T,A84T,D208V,D54E,G226S,G244V,I169T,I52T,L215V,L215W,M223I,M90I,P40T,R152W,R175W,R26T,R293H,R42Q,R55T,R94L,R96W,S68P,T222M,T333M,T39I,V251I,V339M" "0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 5606 8600 sw3278;spmut233;dbsnp29659 BRCC3_HUMAN;NP_077308.1 "I74V,Q303P,R167W" "0,0,0" 79184 10497 sw327;dbsnp27487 MATN2_HUMAN;NP_002371.3 "A338V,A56V,A599T,A692T,D586N,G14A,K356E,K664R,L830V,M942V,R263T,R893W,S907N,T187M,T686R,T855M,V610I,V932I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4147 2300 sw3280;hgmd0613_535 RL21_HUMAN "F15S,R32Q" "0,1" 6144 13717 sw3281;dbsnp12088 RL28_HUMAN;NP_000982.2 R66L 0 6158 13563 sw3282;sws382 RS9_HUMAN L25F 0 6203 13092 sw3283;sws383;dbsnp23220 MAP1B_HUMAN;NP_005900.2 "A1082T,A2326V,A796T,A796V,D591E,D591N,E1828D,E869G,F1838L,I17V,I594V,I59V,I923T,K1976T,K710R,K886R,L867R,P1036L,P1266S,P1296L,P1439L,P1634R,R1079Q,R2077H,R2208H,S1345A,S1433C,S1917R,S2020T,S977G,T2049A,V106I,V1142M,V1251F,V1676M,V962I,Y2057F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4131 255 sw3285;dbsnp24586 UTRO_HUMAN;NP_009055.2 "A1114V,A1717S,A1898G,A1974T,A2875T,A946V,D138G,D2040Y,D2240N,D2408E,D2987V,E2130K,G1047R,G1862E,G2060D,G2716D,H2200Y,H910R,I1744L,I2215V,I2227V,I284T,K1464R,K1878N,K679N,L1880I,L601P,M1040I,M2934V,M483L,M56I,N2202S,N847H,P1893L,P2982S,Q1416R,Q1923H,Q256L,R1287C,R1597I,R1625K,R1708H,R1718H,R1833H,R1833P,R1842K,R191G,R1967W,R2064C,R2279S,R2639K,R2859H,R3260C,R831W,R877Q,R885H,S145L,S1561C,S1665N,S1889L,S2052R,S2407G,S3182P,S48N,T164S,T1897P,T2222A,T2914I,V1460I,V2720M,W2561R,Y1148C,Y2355H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7402 107 sw3286;dbsnp6834 IQGA1_HUMAN;NP_003861.1 "A548G,D344N,E1326D,E534D,G1521E,K80N,K891Q,L1232F,M1231I,N1352S,N1449I,N631K,P1411S,R1487K,R870Q,S256A,T642I,V1294I,V20I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8826 683 sw3287;dbsnp18727 3HAO_HUMAN;NP_036337.2 "G235R,I37V,R175Q,R266Q,R65Q,T209S,T42S,W10C,W264S,Y214C" "0,0,0,0,0,0,0,0,0,0" 23498 11173 sw3289;dbsnp10261 GALR1_HUMAN;NP_001471.2 "A97V,E271A,I265F,P342L,R150G,R195C,S334N,S68N,V223F,V249I,W15C" "0,0,0,0,0,0,0,0,0,0,0" 2587 9680 sw328;sws10;dbsnp13386 EAA5_HUMAN;NP_006662.3 "A119V,A199T,D137N,E213K,E399K,G240D,K162M,L315P,M232T,M283T,M64V,P179R,Q537R,R160C,R478G,R478W,R483Q,R87H,T125M,V106M,V209I,V90I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6512 5678 sw3290;dbsnp22212 CASA1_HUMAN;NP_001881.1 "A117V,M1T" "0,0" 1446 13262 sw3291;sws385;spmut1443 PA24A_HUMAN R651K 0 5321 3616 sw3292;sws386;dbsnp13159 RPGP1_HUMAN;NP_002876.2 "A107T,A555S,A556T,E395G,G325R,G96S,L447M,R604Q,T183A,V221M,V578M" "0,0,0,0,0,0,0,0,0,0,0" 5909 4262 sw3294;dbsnp8521;hgmd0613_128 GLR_HUMAN;NP_000151.1 "A461V,F303C,G40S,G440S,G442V,H416R,I128M,P114A,R428Q,V323I" "0,0,0,0,0,0,0,0,0,0" 2642 7059 sw3295;dbsnp18641 SCTR_HUMAN;NP_002971.2 "A122P,A245T,A292T,D110N,F411S,G264V,G393W,L312F,M84T,N128K,R135W,R299C,R339C,S130F,V125I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6344 7764 sw3296;dbsnp1871 OMP_HUMAN;NP_006180.1 "G36R,P6L,R26W,T81P" "0,0,0,0" 4975 13657 sw3297;dbsnp8677 OR3A1_HUMAN;NP_002541.2 "F254L,F31L,F34I,G211D,M166V,N175S,N45S,R125L,R125Q,R93H,R93L,S78G,V176M,V224M,Y181H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4994 9706 sw3298 OR3A4_HUMAN "E103Q,I120V,I42V,N175S,P168T,R237K,S193A,S86R,V300I,Y181H" "0,0,0,0,0,0,0,0,0,0" - 9706 sw3299;sws387;dbsnp8693 OR1E2_HUMAN;NP_003545.1 "C27R,D109Y,L138P,L139M,M130L,M145V,P147S,S146T,S152A,V153L,V207M,V59M" "0,0,0,0,0,0,0,0,0,0,0,0" 8388 10316 sw32;dbsnp17616 SYCE3_HUMAN;NP_001116697.1 "D2Y,E57K,L88P,V67I" "0,0,0,0" 644186 14771 sw3300;dbsnp8612 OR3A3_HUMAN;NP_036505.2 "C178G,E20K,K317E,L132F,M287V,T48I,W158L" "0,0,0,0,0,0,0" 8392 9706 sw3301;dbsnp9346 OR1G1_HUMAN;NP_003546.1 "C127Y,F33L,H131Y,N65S,Q88H,R235W,S239F,T57I,V145M" "0,0,0,0,0,0,0,0,0" 8390 9535 sw3302;dbsnp9362 OR3A2_HUMAN;NP_002542.3 "D130A,D130E,G316W,H185D,L190V,L196V,R238H" "0,0,0,0,0,0,0" 4995 9706 sw3303;dbsnp6684;hgmd0613_474 AL1A3_HUMAN;NP_000684.2 "A470T,D436N,D449N,H41Q,K450R,M386V,V163M" "0,0,0,0,0,0,0" 220 6337 sw3304;dbsnp14107 V1BR_HUMAN;NP_000698.1 "G191R,H138Q,H224Q,K65N,L326S,Q301E,R14W,R364H,S267G,T122S,V73M,W187R" "0,0,0,0,0,0,0,0,0,0,0,0" 553 8057 sw3305;dbsnp23317;hgmd0613_825 CDX1_HUMAN;NP_001795.2 "P130R,R182W" "0,0" 1044 11582 sw3306 MT4_HUMAN "G48D,W31R,Y30C" "0,0,0" 84560 14888 sw3307;dbsnp11725 UCRI_HUMAN;NP_005994.2 "E108K,S6A" "0,0" 7386 11391 sw330;spmut1676;dbsnp12912 QSOX1_HUMAN;NP_002817.2 "A294S,A29V,A526T,E104D,G200A,H399Y,H444R,N114S,N591H,N660K,P583T,P597L,R216H,R256M,R296C,R552W,R605P,R692W,V467M,W357C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5768 3636 sw3312;dbsnp16895 ATPO_HUMAN;NP_001688.1 "I189V,K73R,K98R,N107K,P81L,R11W,R85C,T105I" "0,0,0,0,0,0,0,0" 539 12673 sw3314;dbsnp26875 CBPA2_HUMAN;NP_001860.2 "E82G,I172V,L381M,R237W,R386H,V67I,V67L,W191G,Y316C" "0,0,0,0,0,0,0,0,0" 1358 7840 sw3315;dbsnp3847 GLIP1_HUMAN;NP_006842.2 "D163E,D266N,G176R,R211Q,R230L,R82W,T4A" "0,0,0,0,0,0,0" 11010 11560 sw3316;dbsnp3324;dbsnp3325;dbsnp3326;dbsnp3327 S6A12_HUMAN;NP_001116320.1;NP_001116319.1;NP_001193860.1;NP_003035.3 "A366T,C10R,E20K,E357K,E611Q,K110E,P598S,V222I,W494S" "0,0,0,0,0,0,0,0,0" 6539 4740 sw3317;sws391;dbsnp27942 NPBW1_HUMAN;NP_005276.2 "A174T,A39V,I47T,P193S,P33S,R146Q,R319C,Y135F" "0,0,0,0,0,0,0,0" 2831 10069 sw3318;sws392;dbsnp16356 NPBW2_HUMAN;NP_005277.2 "A103V,A317T,A73V,L10H,P40L,P42L,Q206R,R153H,R213C,R240Q,R72T,V225M" "0,0,0,0,0,0,0,0,0,0,0,0" 2832 10069 sw3319;dbsnp24507 PPCE_HUMAN;NP_002717.3 "A110S,L351V,M185V,T637S,V706I" "0,0,0,0,0" 5550 3969 sw331;dbsnp30016;dbsnp30017 P2Y10_HUMAN;NP_938147.1;NP_055314.1 N3H 0 27334 9921 sw3322;sws393;dbsnp21915 GBRA4_HUMAN;NP_000800.2 "A19T,L26M,M1K,P113L,R466Q,T355A,T492I" "0,0,0,0,0,0,0" 2557 5782 sw3323 IREB2_HUMAN "I580T,V159L" "0,0" 3658 2261 sw3324;dbsnp19297;dbsnp19298 AT5G3_HUMAN;NP_001002258.1;NP_001680.1 "G93E,I65V" "0,0" 518 13012 sw3325;dbsnp18867 REG1B_HUMAN;NP_006498.1 "A79V,D94A,E80D,E90D,N68I,R109H,R44H,V98I" "0,0,0,0,0,0,0,0" 5968 13608 sw3328;sws394;dbsnp11421 RFX2_HUMAN;NP_000626.2 "A148T,A86T,E5K,E696K,F355V,G156V,G318S,R271H,R610Q,R702L,T118I,T531M,V329M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5990 2186 sw3330;dbsnp296 PI42A_HUMAN;NP_005019.2 "L327M,L7I,N251S" "0,0,0" 5305 8134 sw3332;dbsnp1535 COPD_HUMAN;NP_001646.2 "A6S,F186L,K309N,R257H,R312Q,R434Q,S251F" "0,0,0,0,0,0,0" 372 6449 sw3333 AL3B2_HUMAN "A50T,H203R,H361R,R276W,S220G,S302R,S52N" "0,0,0,0,0,0,0" 222 6518 sw3334;dbsnp17002;dbsnp17005 ERG7_HUMAN;NP_002331.3;NP_001001438.1 "A251V,A269T,G207A,G522R,H310L,H310P,H310R,L642V,M215I,P688L,R116C,R175Q,R347H,R614W,R622Q,R718C,T287M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4047 3766 sw3335;dbsnp27934 PP2BC_HUMAN;NP_005596.2 "A501V,K43Q,K460R,M325I,M490L,R163Q,V385I,V414M" "0,0,0,0,0,0,0,0" 5533 6215 sw3337;dbsnp15792 GSH0_HUMAN;NP_002052.1 "E141Q,I209M,S104L" "0,0,0" 2730 11392 sw3339;sws395;dbsnp2192;hgmd0613_516 IRK5_HUMAN;NP_000881.3 "E147K,G151E,G151R,G387R,L168R,M210I,P384R,Q282E,R39H,R41C,R41H,S418L,T158A" "0,1,1,1,0,0,0,0,0,0,0,0,1" 3762 6632 sw3340;dbsnp10730 GIPR_HUMAN;NP_000155.1 "A207V,E252D,E288G,E354Q,G198C,I378M,L100F,L262V,R101H,R131S,R136W,R190Q,R316L,V99F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2696 7059 sw3341;dbsnp19096 IRK3_HUMAN;NP_002230.1 K40R 0 3760 6632 sw3342;spmut967;dbsnp16968 INAR2_HUMAN;NP_997468.1 "C271Y,E184K,E492K,F10I,F10V,F8S,G245R,I196V,K42N,P346S,Q498R,S22I,S392R,T204R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3455 6389 sw3344;dbsnp16950 TPC10_HUMAN;NP_003265.3 "A642V,A662T,D305E,G1232S,G983S,I633M,K343M,L502F,L671F,M897I,P324S,R1026W,R375Q,S1209N,S997P,T814M,V1010I,V1061M,V257E,V726M,V732M,V875M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7109 1253 sw3345;dbsnp10314 SPB10_HUMAN;NP_005015.1 "A113E,A113V,A186T,A186V,D360N,D69Y,E163K,G135D,I231T,I41M,I99T,L95V,N371S,P140S,Q200E,R246C,S3A,T132I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5273 8639 sw3346;sws396;dbsnp24281;dbsnp24282 PRC2A_HUMAN;NP_004629.3;NP_542417.2 "A1283T,A1289S,A1405P,A37T,D1766G,D1766V,D742E,D82V,E974Q,F2083S,G1019V,G1285A,G1415A,G1416S,G1544D,G1744A,H1075Y,H1470D,H1470Y,L1503P,L1895V,M1632I,N1231D,P106L,P110S,P112Q,P1178L,P1217R,P1342L,P1342S,P1354L,P1448L,P1515L,P1531A,P1531S,P1594R,P1687L,P1702L,P1759R,P2000S,P2006S,P2037S,P2130L,P231S,P515L,P559S,P57R,P606L,Q1847R,Q694K,R1058Q,R1101C,R1104W,R1152S,R1156Q,R1427Q,R1563Q,R1740H,R186K,R2075W,R2102H,R232Q,R296H,R477C,R483W,R804C,R804H,R853C,R862H,S1219Y,S1407N,S1619R,S1808F,S1905P,S1972A,S671C,T1291R,T2093M,T2093R,T2103I,T544K,T797I,V1293I,V1362I,V147I,V1696I,V1774M,V1775M,V961A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7916 353 sw3349;dbsnp22053 NMU_HUMAN;NP_006672.1 "A18E,E79G,F148L,I174V,R165W" "0,0,0,0,0" 10874 13472 sw334;dbsnp5719 FOXN3_HUMAN;NP_001078940.1 "A304P,A415T,D397N,E388A,H365Q,R292Q,R346Q,S386N,V87I,Y337H" "0,0,0,0,0,0,0,0,0,0" 1112 6836 sw335 IPO5_HUMAN "E525K,E549K,L286I,T969I,Y905C" "0,0,0,0,0" 3843 1676 sw3350;dbsnp27780 PTSS1_HUMAN;NP_055569.1 "G72S,T268A,T423N,Y400H" "0,0,0,0" 9791 7141 sw3351;dbsnp3310;hgmd0613_2386 K2C6C_HUMAN;NP_775109.2 "G111D,G230R,G233D,G499S,G538A,G544S,G88R,G97R,I334F,I523V,L245M,R15H,R16Q,R16W,R182Q,R222M,R234H,R260C,R326H,R386H,S143N,S227N,V481I,V486I,Y515S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286887 4648 sw3352;dbsnp13184 NEST_HUMAN;NP_006608.1 "A1594D,E609Q,E927V,G1159R,G1171S,G1407R,G1479S,G419S,K830R,L351M,L560P,N1555K,P1101L,P1275L,P1568L,Q1022K,Q1559E,R1133S,R1405G,R745T,R950M,S1016N,S1161N,S1466G,T954M,V1105L,V130A,V815I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10763 710 sw3355;dbsnp7138;hgmd0613_886 IDHP_HUMAN;NP_002159.2 "D225N,I98T,R140G,R140Q,R261H,T435M,V335I" "0,0,1,1,0,0,0" 3418 7550 sw3356;spmut1183;dbsnp20128 MASP1_HUMAN;NP_001870.3 "D545G,G163S,G410D,G426E,G437R,G679R,H537D,K440R,L304I,N225S,R119Q,R127C,R288Q,R453H,R596M,S510G,T21I,T379I,V22M,V327I,V568A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5648 3806 sw3357;dbsnp27537 NOV_HUMAN;NP_002505.1 "C15F,E121Q,G318E,K170R,L149V,N97K,R233H,R42Q" "0,0,0,0,0,0,0,0" 4856 9489 sw3358 B3A3_HUMAN H157P 0 6508 1255 sw3359;dbsnp23288 SL9A3_HUMAN;NP_004165.2 "A611V,C799R,G12E,R283H,R474Q,R522Q,R604Q,T643M,T643R,T720A,V213I,V266M,V567M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6550 2633 sw3361;dbsnp11343 CD97_HUMAN;NP_510966.1 "A103P,A319V,A41T,A737V,A830V,E392K,E724G,I666M,M381V,N180S,N200S,N454T,P58L,P71L,R187C,R189H,R367Q,R367W,S289T,S631N,T141P,T524P,T59M,V485M,V715I,Y674H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 976 3004 sw3362;dbsnp26322;dbsnp26324 DPOD2_HUMAN;NP_001120690.1;NP_001243808.1 "L342S,L465M,L65M,N303S,P121L,R109Q,V238I" "0,0,0,0,0,0,0" 5425 6598 sw3363;spmut844 HCAR3_HUMAN "G350S,L198F,M317I,M346I,P173T,R253H" "0,0,0,0,0,0" 8843 8853 sw3364;dbsnp3956 PAXI_HUMAN;NP_001074324.1 "A127P,A127T,P245Q,R394Q,S73G,Y581C" "0,0,0,0,0,0" 5829 5085 sw3365;dbsnp23627 CAMLG_HUMAN;NP_001736.1 "G100S,T108A,V78I" "0,0,0" 819 10951 sw3366;spmut1172;dbsnp15051 MAPK2_HUMAN;NP_116584.2 "A173G,A361S,G51V,I202T,N288S,R119Q,T215P,T25A" "0,0,0,0,0,0,0,0" 9261 8578 sw3367;dbsnp29986;dbsnp29987;dbsnp29988;dbsnp29989 DNSL1_HUMAN;NP_001009934.1;NP_006721.1;NP_001009933.1;NP_001009932.1 "D227A,N14S,Q170H,Q276R,T98M,V122I,V280I" "0,0,0,0,0,0,0" 1774 10813 sw3368 AL9A1_HUMAN C116S 0 223 6351 sw3369;dbsnp20042 TGM4_HUMAN;NP_003232.2 "E100D,E313K,E413D,E437Q,I376V,K156R,M475V,Q347K,R214G,R300G,R372C,R372H,R431W,S249T,S317R,T247I,T639M,V409I,V47G,W233C,W269R,Y244H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7047 4226 sw336;dbsnp11362 RPOM_HUMAN;NP_005026.3 "A409V,A444V,A912V,C174F,D870N,E555A,E947K,F148L,F400L,H429R,I1198L,I316V,L1199S,M109I,M323I,M482V,P38S,Q322L,Q47H,R1083C,R1173C,R131Q,R159C,R253W,R256Q,R447Q,R481P,R598H,R759H,S1193F,T656K,T880M,V417M,V60M,V78M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5442 1335 sw3370;dbsnp16387 SPIT3_HUMAN;NP_006643.1 "F54S,G43S,L77S,S21L" "0,0,0,0" 10816 14763 sw3371;dbsnp20483;dbsnp20484;dbsnp20485 CX3C1_HUMAN;NP_001328.1;NP_001164642.1;NP_001164643.1 "E13D,T280M,T57A,V122I,V147I,V249I" "0,0,0,0,0,0" 1524 8865 sw3374;dbsnp19112 NRAM1_HUMAN;NP_000569.3 "A291T,A318V,D149N,D543N,G498S,I158T,L292P,Q30R,R394Q,R397C,R419Q,S164L,V294I,V350M,V443A,V443M,V484L,V484M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6556 5270 sw3375;sws399;dbsnp4293;dbsnp4295 NRAM2_HUMAN;NP_001167597.1;NP_001167598.1 E399D 1 4891 5270 sw3376;dbsnp2302;hgmd0613_1434 MTR1B_HUMAN;NP_005950.1 "A234T,A74T,G24E,G339S,I353T,K235Q,K243R,L60R,L66F,N130S,R138C,R231H,R330Q,V124I,V65A,Y188C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4544 9357 sw3377;dbsnp14668 NASP_HUMAN;NP_002473.2 "A239V,A379V,D301N,E155G,E35G,G264R,G360R,G702S,I611V,N597K,P372T,P739L,P750L,Q260R,R728Q,S176G,S692C,V11L,V309M,V620G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4678 3301 sw3379;dbsnp8831;hgmd0613_1156 FAS_HUMAN;NP_004095.4 "A2029V,A2040S,A2460T,A462T,A860V,D1000N,E1130K,E1958K,E489K,E719K,E939K,G1096R,G479V,G571E,G592S,I1888V,L1069P,L1962F,L2390R,N1193S,P1325L,P1527L,P1779L,P617L,P707L,Q2213R,R1349Q,R1462Q,R1694H,R1824W,R1930C,R1931Q,R1934C,R1953Q,R2125Q,R2125W,R2177H,R2185Q,R522H,S1398A,S1719G,S1804R,V1078M,V1152G,V128M,V1483I,V1913M,V2005A,V2256M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2194 240 sw337;sws12;spmut582 EF2K_HUMAN "D609H,Q361R,R433W" "0,0,0" 29904 3827 sw3382;dbsnp13607 TCPG_HUMAN;NP_005989.3 "A421S,I195V,L391F,S24P" "0,0,0,0" 7203 5913 sw3384;dbsnp26674 AMPH_HUMAN;NP_001626.1 "A473G,A484S,E614D,K218E,K496T,M376I,P277S,R48W,R693C,T586M,V185I,V499F" "0,0,0,0,0,0,0,0,0,0,0,0" 273 4117 sw3386;spmut2268 UB2R1_HUMAN D227H 0 997 12166 sw3387;dbsnp18872;dbsnp18873 INPP_HUMAN;NP_002185.1;NP_001122400.1 "C337W,Q350H,R380Q,T228A,V355M" "0,0,0,0,0" 3628 8601 sw3388;dbsnp30064 DHE4_HUMAN;NP_036216.2 "A329V,A538T,D414G,F299L,R274C,R395K,R60L,S498A,T154P,V86G" "0,0,0,0,0,0,0,0,0,0" 2747 5717 sw3389 CENPF_HUMAN "D272G,E2011A,K1539R,Q250L" "0,0,0,0" 1063 122 sw3390;hgmd0613_1053 UBE2A_HUMAN "G23R,R11Q" "1,1" 7319 13877 sw3392;sws402;dbsnp17465 PPM1F_HUMAN;NP_055449.1 "A260V,E107D,G15E,L420R,Q449E,Q7K,R132C,R237H,R388H,S14T,S325C,T19I" "0,0,0,0,0,0,0,0,0,0,0,0" 9647 7501 sw3393;sws403;dbsnp20061 DGKG_HUMAN;NP_001337.2 "A31G,A31V,D634N,G520R,I318F,K425M,L458M,M663V,N673K,P146S,R150W,R316K,R370W,S102N,T142S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1608 3278 sw3395;dbsnp26687 HXA1_HUMAN;NP_005513.1 "E189A,H146N,H65P,H73R" "0,0,0,0" 3198 10012 sw3396;dbsnp6492 MA2A2_HUMAN;NP_006113.2 "A233V,A620V,A846S,E696K,F751V,G546A,G546D,H791Q,I897V,K202E,L1048M,L720I,L720V,N81K,P1043S,P618S,P731L,Q412R,R1039H,R1039L,R1039P,R1146C,R123L,R123Q,R283H,R415Q,R728C,R741Q,R805C,S341T,S665F,S692T,T729M,T93M,T93R,V685M,V995M,Y912H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4122 1554 sw3397;dbsnp3737 PRI1_HUMAN;NP_000937.1 "D5A,V376I" "0,0" 5557 8148 sw3398 PRI2_HUMAN "C287Y,D204G,D435G,E181K,G259S,P465S,Q265L,Q446H" "0,0,0,0,0,0,0,0" 5558 6482 sw3399;spmut270;dbsnp1958 CASP4_HUMAN;NP_001216.1 "D47N,D52E,E164K,E284D,E341D,E3G,F330L,F374S,P151L,P226A,P226T,R116T,R344Q,V30M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 837 7644 sw339;dbsnp5650 EMAL1_HUMAN;NP_004425.2 "A377V,G109D,H552N,H749R,S556P" "0,0,0,0,0" 2009 2179 sw3402;spmut442;dbsnp30743 CXCR3_HUMAN;NP_001495.1 "A363T,E4Q,K324N,R292Q" "0,0,0,0" 2833 8286 sw3403;spmut1627 PRLHR_HUMAN "D302G,I283V" "0,0" 2834 9191 sw3404;dbsnp20323 GPR15_HUMAN;NP_005281.1 "F159I,G63S,L54R,M112V,P37S,R100S,R65Q" "0,0,0,0,0,0,0" 2838 9412 sw3405 ARL4D_HUMAN T91N 0 379 12939 sw3406;dbsnp8094 CTCF_HUMAN;NP_006556.1 "E631K,H345R,K344E,P643S,R339W,R448Q,V551I" "0,1,1,0,1,1,0" 10664 3810 sw3407;spmut333;dbsnp27818 CEBPD_HUMAN;NP_005186.2 "K91N,Q217L,R248W" "0,0,0" 1052 11505 sw3408;dbsnp8519 PSB3_HUMAN;NP_002786.2 "I82T,K68E,M34L,T196N,T196S" "0,0,0,0,0" 5691 12850 sw3409;spmut1198;dbsnp20432 MCM2_HUMAN;NP_004517.2 "A386V,A396T,A701V,A727T,D275N,D68E,E141D,E166Q,E93A,G501R,I485T,I858T,L135F,R118Q,V312L,V667M,V810I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4171 2588 sw3410;sws405;dbsnp13001 TSP3_HUMAN;NP_009043.1 "D372N,L900V,P325T,P66R,Q831H,R102Q,R916H,S279G,T724M,V806I" "0,0,0,0,0,0,0,0,0,0" 7059 2280 sw3413;dbsnp5405 ACOT2_HUMAN;NP_006812.3 "D159E,E91G,G230S,H475R,L267M,R16S,R186W,R236W,Y276H" "0,0,0,0,0,0,0,0,0" 10965 6944 sw3414;dbsnp26064 VPS41_HUMAN;NP_055211.2 "A187T,A444T,C647R,E432K,E6V,H336R,I464T,L713F,R416C,R416G,R611H,R843H,S471I,T146P,T52R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27072 2872 sw3415;dbsnp5963 TMEDA_HUMAN;NP_006818.3 "E59G,R152G,S64Y" "0,0,0" 10972 12546 sw3416;dbsnp5976 NUMB_HUMAN;NP_001005743.1 "A570G,D642E,G595D,H265R,N336S,V387I,V451I" "0,0,0,0,0,0,0" 8650 4580 sw3417;dbsnp18807 CLK1_HUMAN;NP_004062.2 "D444N,E459G,L167I,L57F,M440T,N99D,P307S,R110G,R118G,R449C,R465K,S101I,S128L,S36G,S61F,T7I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1195 4713 sw3418;dbsnp6780 CLK3_HUMAN;NP_001123500.1 "A113T,Q607R,R212H,R486C,R628W,S277G" "0,0,0,0,0,0" 1198 4713 sw341;spmut1437;dbsnp1355 P3C2A_HUMAN;NP_002636.2 "A300V,C908F,D719E,D777N,E568Q,F133L,H548Q,I1155V,I214V,I90M,K1481R,K28E,K532R,N1669S,N378K,P640T,R22T,S586N,S672G,T1415A,T204I,T683A,V528M,Y73C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5286 654 sw3421;dbsnp20132 TIG1_HUMAN;NP_996846.1 "D158V,D42G,H68R,I149M,I93L,L161F,L218F,N142S" "0,0,0,0,0,0,0,0" 5918 10999 sw3422;dbsnp24711 NU153_HUMAN;NP_005115.2 "A658V,A827T,D610A,D623E,D717E,D889E,D90N,E419A,F652Y,G1451W,G32E,I248V,I569V,I650V,N1049S,N1124S,N1220S,N402K,N503S,P229T,P478L,P821L,S1214N,S1392T,S818P,S818T,S836C,T1064A,T1202A,T1266A,T1388A,T761R,V1097M,V553A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9972 863 sw3424;dbsnp29059 RGS3_HUMAN;NP_652759.3 "D810Y,G103V,G541S,G987S,H942Y,L795V,P759L,Q140H,R1092H,R1181C,R1181H,R129K,R606C,R809Q,R932H,S835G,T808N,V1079L,V1138I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5998 1425 sw3425;dbsnp15591 RGS4_HUMAN;NP_005604.1 "A195S,E151K,G190V,K192E" "0,0,0,0" 5999 10820 sw3426;spmut1759 RGS7_HUMAN "M137L,Q409H" "0,0" 6000 6742 sw342;spmut1568;dbsnp22042 PLK4_HUMAN;NP_055079.3 "A226T,E830D,G6E,G862R,I801V,N449D,P317L,R146H,S232T,S592F,T828M,T865A,W519S,Y86C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10733 2235 sw3430;dbsnp12191 GSK3A_HUMAN;NP_063937.2 "L461F,Q109E,S2N,V104I" "0,0,0,0" 2931 6945 sw3431;sws407;spmut2061;dbsnp24386 STK19_HUMAN;NP_115830.1 "A148T,A331V,A39D,A42V,P101R,Q195E,S311G" "0,0,0,0,0,0,0" 8859 9231 sw3432;dbsnp26404;dbsnp26405 TAF6_HUMAN;NP_647476.1;NP_005632.1 "A204T,A466S,C36S,G671S,S264A" "0,0,0,0,0" 6878 3934 sw3434;dbsnp135;dbsnp136 5NTC_HUMAN;NP_001127845.1;NP_036361.1 "I497F,L392F,Q136R,Q84R,T3A" "0,0,0,0,0" 22978 5664 sw3436;spmut1285;dbsnp6378 MTHFS_HUMAN;NP_006432.1 "E198K,R74Q,T107I,T202A,V119L" "0,0,0,0,0" 10588 12897 sw3437;sws408;dbsnp8796 DNLI3_HUMAN;NP_039269.2 "D340N,K898T,P986S,R224W,R264W,R30C,R867H,R954H,S887F,T927M,V327L" "0,0,0,0,0,0,0,0,0,0,0" 3980 2070 sw343;dbsnp11447 SYT5_HUMAN;NP_003171.2 "E4D,G142A,R111Q,R58Q,T34A,V27M" "0,0,0,0,0,0" 6861 8113 sw3440;dbsnp501;hgmd0613_823 ENTP1_HUMAN;NP_001767.3 "E142Q,G445R,V293I,V9M" "0,0,0,0" 953 6262 sw3443;dbsnp18987 HNMT_HUMAN;NP_008826.1 "C82Y,I288T,M1T,T105I" "0,0,0,0" 3176 11041 sw3444;sws410;dbsnp28600 GNAQ_HUMAN;NP_002063.2 "E191K,E355D,R183Q,R256K" "0,0,0,0" 2776 9110 sw3446;dbsnp9361 MEOX1_HUMAN;NP_004518.1 "A55T,D2Y,H193R,N238S,P234T,S168G,S27L" "0,0,0,0,0,0,0" 4222 11818 sw3447;dbsnp26210 MEOX2_HUMAN;NP_005915.2 "G141R,H69N,I287L,M59L,P21T" "0,0,0,0,0" 4223 10774 sw3448;spmut2042;dbsnp7382;dbsnp7383;dbsnp7384;dbsnp7385 ST1A1_HUMAN;NP_001046.2;NP_803565.1;NP_803566.1;NP_803878.1 "E151D,E151Q,E282K,F247L,G165R,H149Y,K22R,M196I,N235T,N239S,P100L,P19L,Q177R,R213H,R37Q,R37W,T227M,V223M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6817 10972 sw3449 ST1A2_HUMAN "I7T,K282E,N235T,N239S,P19L,Y62F" "0,0,0,0,0,0" 6799 10972 sw344;dbsnp27448 GFRA2_HUMAN;NP_001486.4 "E15D,L462Q,P443S,S284N" "0,0,0,0" 2675 7319 sw345 P85B_HUMAN "S234R,S313P" "0,0" 5296 3800 sw3450;dbsnp5480;hgmd0613_1296 MMP14_HUMAN;NP_004986.1 "A165D,A37P,A4T,D273N,E248K,G73S,I233V,M355I,P8S,R302W,R431H,R6K" "0,0,0,0,0,0,0,0,0,0,0,0" 4323 5375 sw3452;dbsnp294 NPY4R_HUMAN;NP_005963.3 "A81T,A99S,I303M,L158V,L287P,M116V,M90T,N318D,Q121P,R236C,R239Q,R239W,R240C,R246C,R246H,R256Q,V247M,V271M,V276M,V40M,V45I,V54M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5540 9093 sw3457;dbsnp10386;dbsnp10387 SPB8_HUMAN;NP_002631.3;NP_942130.1 "A208V,A291G,A330T,E189K,E242K,H359R,K158N,L148P,L85W,L92V,P102S,R339W,R68Q,T304A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5271 8998 sw3460;dbsnp22855 PDLI4_HUMAN;NP_003678.2 "A203T,G138R,G259C,M280T,R118G,R142C,V184I,V310E" "0,0,0,0,0,0,0,0" 8572 10142 sw3461;dbsnp17365 F10A1_HUMAN;NP_003923.2 "E246K,E66Q,M297I,N292S" "0,0,0,0" 6767 9215 sw3462;dbsnp1158 MXI1_HUMAN;NP_005953.4 "E152A,I202T,R169H" "1,0,0" 4601 10987 sw3463;spmut1515;dbsnp3482;dbsnp3483;hgmd0613_691 PEX5_HUMAN;NP_001124497.1;NP_001124498.1 "E65D,M272T,M634I,N526K,R220Q,R333H,R344W,R393Q,S600W,T197M,T425I,V202L,Y522H,Y620H" "0,0,0,1,0,0,0,0,1,0,0,0,0,0" 5830 4548 sw3464;spmut624;dbsnp12643 ERF_HUMAN;NP_006485.2 "A415V,P349L,R205H" "0,0,0" 2077 5868 sw3465;spmut643;dbsnp26507 ETV1_HUMAN;NP_004947.2 "R163Q,S100G,S244T" "0,0,0" 2115 7514 sw3466;spmut2344;dbsnp11819 VASP_HUMAN;NP_003361.1 "A104T,A26V,A85T,E368A,G105S,N158H,Q140H" "0,0,0,0,0,0,0" 7408 8974 sw3470;spmut322;dbsnp23796 CDK7_HUMAN;NP_001790.1 "G163A,H135R,I63R,T285M" "0,0,0,0" 1022 9762 sw3471;dbsnp8508;dbsnp8509 TOB1_HUMAN;NP_005740.1;NP_001230806.1 "A136S,A271S,K319R,N199S,P277A,P49S,Q173R,Q70E,Y50N" "0,0,0,0,0,0,0,0,0" 10140 9788 sw3473;dbsnp4005 KNTC1_HUMAN;NP_055523.1 "D11E,D1526N,E738D,H748R,K245N,L1247P,L1511F,L317F,P1830L,P810S,R1888Q,S305A,T121A,T1506M,T198A,T2195A,T449N,V2021G,V720G,Y895C,Y895F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9735 340 sw3474;spmut324;dbsnp29443 CDK9_HUMAN;NP_001252.1 "F59L,G231A,T87I" "0,0,0" 1025 9162 sw3475;sws413;dbsnp21859;hgmd0613_1531 LRBA_HUMAN;NP_006717.2 "A1090G,A1967S,A1967T,A2282G,A2336S,A2704T,A892T,D2119H,D2119N,D2169N,E1088Q,F1531V,G1117V,G1230D,G1659E,G18R,G58A,I117V,I1287V,I2232T,I505V,I578V,I65T,I724V,L1644V,L263V,L2713F,L406F,M1190V,M2370I,M467V,M704I,N1040S,N1248S,N1367S,N1677S,N815S,N852S,P1136L,P1652L,Q2295H,R1305H,R1558S,R1981C,R1997C,R2825W,R2862C,S1596N,S1671L,S2809L,S835G,T1251A,T1887A,T2307N,T2533P,T2625A,V1111L,V1292I,V1619L,V2087M,V737I,Y591H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 987 164 sw3476;dbsnp18045 R144A_HUMAN;NP_055561.2 "D179N,T4A" "0,0" 9781 10809 sw3479;dbsnp21136;dbsnp21137 RL14_HUMAN;NP_003964.3;NP_001030168.1 "A138S,K23R,P144L,T43S" "0,0,0,0" 9045 12632 sw347;dbsnp13625;dbsnp13626;dbsnp13627 TRAF5_HUMAN;NP_001029082.1;NP_665702.1;NP_004610.1 "A200V,A385E,A536T,G20S,K44E,L358V,N186H,Q310E,R145Q,R251H,R437H,S158R,T232M,T435P,V120G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7188 5734 sw3480;dbsnp17055 TCPQ_HUMAN;NP_006576.2 "H4Q,K260R,R520K,V147I,V409I,V463L" "0,0,0,0,0,0" 10694 5869 sw3481;dbsnp18492 TCPD_HUMAN;NP_006421.2 "A362P,C337S,D207N,I112V,N366S,R483Q" "0,0,0,0,0,0" 10575 5999 sw3483;dbsnp115;dbsnp116;dbsnp117 ANX11_HUMAN;NP_665876.1;NP_665875.1;NP_001148.1 "E369K,G38R,G416R,I278V,I281T,I457V,L337H,P174L,P35A,P8L,R191Q,R210Q,R230C,R371H,T244M,T321N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 311 6560 sw3484;sws414;dbsnp20462 FXR1_HUMAN;NP_005078.2 "A173S,A614V,D429N,D590N,H573R,K578E,P598T,Q612L,T597A" "0,0,0,0,0,0,0,0,0" 8087 4338 sw3485;dbsnp9731 FXR2_HUMAN;NP_004851.2 "Q252H,R483Q,R591P,W90G" "0,0,0,0" 9513 4338 sw3486 GRAM_HUMAN R221G 0 3004 11761 sw348;dbsnp14063;hgmd0613_2469 AGRIN_HUMAN;NP_940978.2 "A1912V,A375S,A43T,A487V,A756T,A897V,A996E,D1785N,D505N,E1086K,E150A,E1883K,E514K,E665K,E728V,G510S,G719S,H128R,L1088F,L1493F,N832K,P1240L,P1289L,P1451L,P165L,P1997L,P465L,P770L,P846S,Q1135R,Q353R,Q666E,Q852R,R1178Q,R1190H,R1699C,R1734H,R1915Q,R400W,R524W,R688W,R834Q,S1909T,T1026N,T1118K,T1819I,T654I,V1666I,V471M,V554M,V913M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375790 403 sw3490;dbsnp23154 FABP6_HUMAN;NP_001436.1 "A32V,H58R,L21H,M60I,M75I,M75V,R33H,S55Y,T79M,V123M" "0,0,0,0,0,0,0,0,0,0" 2172 13427 sw3493 SCNND_HUMAN "C532Y,E380Q" "0,0" 6339 3201 sw3495;dbsnp14618;dbsnp14621;dbsnp14622 RT29_HUMAN;NP_004623.1;NP_001186778.1;NP_387506.1 "C395S,D157N,G5E,Q358H,S71F,S71Y,V240F,V345I" "0,0,0,0,0,0,0,0" 7818 8620 sw3498;dbsnp20512 ZNF80_HUMAN;NP_009067.2 "D253A,D6N,E186K,G111R,G11D,H155D,P104S,R178L,R201H,V57M" "0,0,0,0,0,0,0,0,0,0" 7634 4279 sw3499;dbsnp29592;hgmd0613_1576 ZNF81_HUMAN;NP_009068.2 "A213E,A3V,G117V,I221T,I499V,N157S,S179N,S185L" "0,0,0,0,0,0,1,0" 347344 2882 sw34;dbsnp28874 FA22F_HUMAN;NP_060031.1 "A589G,E389D,G731R,L126F,N370K,P29S,P339L,P387S,R176G,S137C" "0,0,0,0,0,0,0,0,0,0" 54754 2725 sw3500;dbsnp7627 MMP15_HUMAN;NP_002419.1 "A264T,D538N,D596G,E293K,G609R,L200P,P350L,R190W,R541H,R622W,T643I" "0,0,0,0,0,0,0,0,0,0,0" 4324 4380 sw3501;dbsnp10861;dbsnp10862;dbsnp10863;dbsnp10864;dbsnp10869 ZNF83_HUMAN;NP_001099021.1;NP_001099020.1;NP_001099019.1;NP_060770.3;NP_001099022.1 "A477V,D404N,D496G,E293V,G285A,G435E,H271N,H271R,H392R,K290R,L472R,N357S,R141I,R244H,R448W,S96N,T119M,T70I,T90R,Y373S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55769 3138 sw3502;dbsnp28354;hgmd0613_1013 SMCA2_HUMAN;NP_003061.3 "A1188P,A1201V,D1158V,D1205G,D1546E,D1573N,D851H,E1224D,E852D,E852K,G1202C,G1416A,G752A,G881R,G881V,H854N,H854R,H939Y,I1506F,K755R,L1135P,L946F,L946S,M70L,P33S,P883L,Q225P,Q226P,Q228P,Q229P,Q230P,Q232P,R1105C,R1105P,R1159G,R1159L,R1159Q,R1162H,R1213W,R855G,S1146R,T59S,T756I,V1403M,V1567L,Y978F" "1,1,1,1,0,0,1,0,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,0,0,1,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,0,1,0,0,0" 6595 663 sw3503;spmut1971;dbsnp12592;dbsnp12593 SMCA4_HUMAN;NP_001122316.1;NP_003063.2 "A1605P,A26T,G148R,L921F,M1011T,M1036I,R1157G,R13Q,R885C,T859M,V561E,V766G,Y372H" "0,0,0,1,1,0,1,0,1,1,0,0,0" 6597 663 sw3505 SSRD_HUMAN G144R 0 6748 13484 sw3508;spmut1436;dbsnp29681 P2RY4_HUMAN;NP_002556.1 "A152T,I247V,K34R,L79S,N178T,P191L,P303L,P352T,Q353R,R318H,S20N,S234A,V168M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5030 9034 sw3509;sws420;spmut232 BRCA2_HUMAN "C1290Y,C315S,D1420Y,D1513N,D1902N,D2238E,D2723G,D707Y,D728A,D935N,E1036K,E1593D,E1901K,E2089D,E2275G,E2856A,E462G,F1524V,F2293L,G1771D,G2274V,G2353R,G25R,G2748D,G3076E,G405R,H1561N,H2074N,H2415N,H2440R,H372N,I1929V,I2490T,I2627F,I2944F,I3103M,I3412V,I729M,I982L,K1445T,K1690N,K2729N,K3257R,K327E,L2480V,L2653P,L2686P,L2792P,L3101R,L613R,L929S,M192T,M784V,N108H,N1147S,N1279S,N1805S,N2706S,N289H,N60S,N886I,N987I,N991D,P2096L,P3063S,P3300S,Q2421H,Q2456E,R118H,R2034C,R2108C,R2336Q,R2502H,R2659K,R3276S,R448H,S1106R,S1172L,S1979R,S2835P,T1414M,T1679I,T1887M,T2031A,T225A,T2515I,T3357R,T3374I,T431I,T630I,T64I,V1643A,V1804A,V2118L,V2138F,V2969M,V3244I,V355L,W31C,W31R,Y42C" "0,1,0,0,0,0,0,0,1,1,1,0,1,1,1,0,1,1,1,1,1,1,1,1,0,1,0,0,1,0,0,1,0,1,0,1,0,1,0,1,1,1,0,1,0,1,0,0,0,1,0,1,0,0,0,0,0,0,0,1,0,0,0,1,1,1,1,1,1,0,0,0,1,1,0,1,1,1,0,0,0,1,1,1,1,1,1,0,1,1,1,0,1,1,0,0,0,1,1,1,1" 675 108 sw350;dbsnp18614 MEIS1_HUMAN;NP_002389.1 "F358V,R272H" "0,1" 4211 7066 sw3511;dbsnp29771 RENBP_HUMAN;NP_002901.2 "A210V,A221T,A280D,A353T,D10G,D284G,N310K,Q169R,R103Q,R152Q,R54H,V33M" "0,0,0,0,0,0,0,0,0,0,0,0" 5973 8004 sw3513;spmut845;dbsnp30791 HCFC1_HUMAN;NP_005325.2 "S1164P,S2004I,T127M" "0,0,0" 3054 407 sw3514;sws421;spmut983;dbsnp29657 IRAK1_HUMAN;NP_001560.2 "A651V,C203S,F196S,G369E,G619S,R194H,R366C,R638W,S532L,S691F,T113I,T398M,T625M,V642M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3654 3947 sw3515;spmut277;dbsnp25912 CAV2_HUMAN;NP_001224.1 "D162N,F13L,K86E,Q130E,V148I" "0,0,0,0,0" 858 13676 sw351;dbsnp5999 EXOC5_HUMAN;NP_006535.1 "D299N,E10D,E353D,G545R,N244T" "0,0,0,0,0" 10640 3994 sw3521;dbsnp21793;dbsnp21795 GPM6A_HUMAN;NP_005268.1;NP_963885.1 "I97S,V242L" "0,0" 2823 10209 sw3522;dbsnp20647;dbsnp20648 CCR3_HUMAN;NP_847899.1;NP_001828.1 "C218S,F248V,G21D,I222V,L351P,P349L,P39L,R239Q,R275Q,T86I,V147A" "0,0,0,0,0,0,0,0,0,0,0" 1232 9085 sw3523;dbsnp21277 CCR4_HUMAN;NP_005499.1 "C178S,G324S,L130V,L21Q" "0,0,0,0" 1233 9413 sw3525;dbsnp20453 CCR8_HUMAN;NP_005192.1 "A27G,C43S,R131M,S110F,S312L" "0,0,0,0,0" 1237 9538 sw3526;dbsnp20936 CCR9_HUMAN;NP_112477.1 "A231T,D110N,F86L,I92V,M284V,P102S,V61M" "0,0,0,0,0,0,0" 10803 9216 sw3529;dbsnp29585 ARSD_HUMAN;NP_001660.2 "A282D,A84V,C238F,F223I,F223L,F240C,G221S,G409E,G409R,L166Q,M176K,M564T,P293S,Q318H,S157F,S224C,V477I,V500I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 414 5225 sw352;dbsnp23443 ELL2_HUMAN;NP_036213.2 "A298T,A313T,D328E,I58V,L75F,P293L,P293T,P440A,S197G,V443I" "0,0,0,0,0,0,0,0,0,0" 22936 4692 sw3535 CLCN6_HUMAN E198G 0 1185 2777 sw3539;dbsnp29956 PLXA3_HUMAN;NP_059984.2 "A105V,A253V,A267T,A419T,A575T,A578V,A91V,A920S,D443N,D863E,E452Q,G1334E,G229S,G384S,G413S,G504R,K1139Q,K438N,L63V,N547D,P1485L,P58S,P653L,P680S,R107H,R1359C,R137C,R1406C,R1593C,R1603H,R24H,R350Q,R350W,R423H,R433H,R473Q,R543Q,R64W,R89H,S114T,S671F,T32M,V27M,V560I,V640I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55558 491 sw353;dbsnp24558;hgmd0613_1526 NPT4_HUMAN;NP_006623.2 "A100T,A139D,A139S,A17T,G161V,G201R,P28T,P300L,R38C,T149I,V179F,V44I" "0,0,0,0,0,0,0,0,0,0,0,0" 10786 6704 sw3545;dbsnp30151;hgmd0613_866 AFF2_HUMAN;NP_002016.2 "A982T,F1090I,G547D,I1030L,I206T,L1185M,P166S,P689S,P886A,R927H,S89T,T444A,T620A,V246M" "0,0,0,1,0,0,0,0,0,1,0,0,0,0" 2334 1146 sw3546;spmut1626;dbsnp29871 PRKX_HUMAN;NP_005035.1 "I232V,M126V,V321M,V43A" "0,0,0,0" 5613 8633 sw3547;sws424;dbsnp22471 AFF1_HUMAN;NP_005926.1 "A285V,E819A,F34L,H714Y,I214M,I833M,M1062I,P153T,P209A,P269L,P791L,P877L,P90L,P943S,Q343P,R1075H,R784S,S344T,S620C,S634F,S872L,T647M,V704I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4299 1366 sw3548 AFF3_HUMAN S358N 0 3899 1277 sw3549;sws425;dbsnp29591 GUC2F_HUMAN;NP_001513.2 "A1010V,D343N,E794K,G223E,G256R,G434R,I160N,K181R,L284P,L304P,M824V,N495H,N945S,P973T,Q105H,Q380H,R230W,R296Q,R305Q,R628Q,R681C,R978Q,S40C,T713M,T914I,V677L,V74L,V891G,Y308C,Y324H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2986 1687 sw354;dbsnp24530 BT3A1_HUMAN;NP_008979.3 "A196V,A238T,F9L,G160E,G198R,K405E,K66R,L227H,P193R,P456T,R15H,R282T,R442Q,S224N,V152I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11119 5358 sw3551;dbsnp30198 TKTL1_HUMAN;NP_036385.3 "A370S,A8V,G296S,I152T,I152V,I531V,L24F,R317K,S345N,T368A,T428M,V550I" "0,0,0,0,0,0,0,0,0,0,0,0" 8277 4793 sw3553;dbsnp14143 HDGF_HUMAN;NP_004485.1 "A158T,G177R,G205D,L162M,P201L,R168H,V140F" "0,0,0,0,0,0,0" 3068 11793 sw3555;dbsnp4817 LUM_HUMAN;NP_002336.1 "L12S,L199P,P323L" "0,1,0" 4060 9944 sw3556;dbsnp12891;dbsnp12892 PRELP_HUMAN;NP_958505.1;NP_002716.1 "D142N,D142Y,G151S,G33R,M157V,N334S,N348H,R206K,R34H" "0,0,0,0,0,0,0,0,0" 5549 8936 sw3557;spmut294;dbsnp23260 CCNH_HUMAN;NP_001230.1 "C84F,K138R,M54V,N128K,R28L,T291M,V270A,V270D" "0,0,0,0,0,0,0,0" 902 10317 sw3558;dbsnp6069 MAT1_HUMAN;NP_002422.1 "A278S,D282A,K84Q,L109F" "0,0,0,0" 4331 10663 sw3559;spmut1343;dbsnp13621 NEK2_HUMAN;NP_002488.1 "C410Y,D277E,G134D,N189S,N354S,R190H,V137I" "0,0,0,0,0,0,0" 4751 7665 sw355;dbsnp13642 ZN593_HUMAN;NP_056955.2 "P53L,R6Q" "0,0" 51042 14178 sw3560;dbsnp5187;dbsnp5188 NEK3_HUMAN;NP_002489.1;NP_689933.1 "A387V,D461N,E276D,E305D,E477K,H23L,P170L,P60R,Q94R,R122C,R122H,R259G" "0,0,0,0,0,0,0,0,0,0,0,0" 4752 6541 sw3561;sws426;dbsnp20064 NEK4_HUMAN;NP_003148.2 "E422K,E763D,F567L,I274V,K209E,N414D,P225A,P250L,P421L,P728L,Q456E,R239G,R490Q,R830C,S164G,T357I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6787 2949 sw3562;dbsnp23097;dbsnp23098 CCNG1_HUMAN;NP_004051.1;NP_954854.1 "F179L,H93Q,K30R,L205F,N178H,R275Q" "0,0,0,0,0,0" 900 9811 sw3563;dbsnp21197 UB2E1_HUMAN;NP_003332.1 E25D 0 7324 12810 sw3565;dbsnp10368;hgmd0613_1111 MYOM1_HUMAN;NP_003794.3 "A1423V,D1408N,E247K,E600V,E704K,G341A,H382Q,I960T,M1453L,M1453T,N1524D,N446K,R1103Q,R483H,S181P,T215M,V1038I,V22L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8736 656 sw3566;dbsnp14432 6PGD_HUMAN;NP_002622.2 "A268S,A268T,A271S,A271T,D246N,D82H,G95C" "0,0,0,0,0,0,0" 5226 6946 sw3567;dbsnp8778 IMA2_HUMAN;NP_002257.1 "A157V,A523T,D23N,E458G,G365S,K453N,N86S,P165R,P216S,Q520R,R117Q,R117W,T255S,T430P,V506D,V506I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3838 6146 sw3568;dbsnp19940 IMA1_HUMAN;NP_002255.3 "P532T,S73N,T52I" "0,0,0" 3836 6005 sw3569;dbsnp22227 GDS1_HUMAN;NP_001093897.1 "E521G,G89R,K314E,R449H,V105M" "0,0,0,0,0" 5910 5049 sw3571;dbsnp27454 CTR2_HUMAN;NP_001008539.3 Q547L 0 6542 4095 sw3572;spmut899;dbsnp1065;dbsnp1066;dbsnp1067;dbsnp1068;dbsnp1069;dbsnp1070 HNRPF_HUMAN;NP_001091678.1;NP_001091677.1;NP_004957.1;NP_001091676.1;NP_001091675.1;NP_001091674.1 "I222V,K87R,R232W,S21T" "0,0,0,0" 3185 7617 sw3573;spmut2054;dbsnp3647 STAT2_HUMAN;NP_005410.1 "C246S,G825C,I464V,L220P,M594I,P709L,Q371E,Q66H,Q826H,R88Q,S501I,T448M,V728M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6773 2893 sw3574;sws430;spmut2131;dbsnp5970 TF2AA_HUMAN;NP_056943.1 "A109P,N170S" "0,0" 2957 9068 sw3576;spmut1069;dbsnp843;hgmd0613_1218 KIF11_HUMAN;NP_004514.2 "F144L,H526Q,H718L,L1042F,L682V,N569S,N651S,N838H,N910S,P642A,Q602H,R234C,R944C,S235C,T972A,V627L" "1,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0" 3832 1869 sw3577;dbsnp28422 VAV2_HUMAN;NP_001127870.1 "D667N,G819S,G850S,G854S,H292R,I666M,I818M,K515R,M528I,M594V,P661L,R664Q,R816H,R838Q,S110A,S739G,T870M,V162I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7410 2723 sw3578 ZN133_HUMAN S193T 0 7692 4491 sw3579;dbsnp11844 ZN136_HUMAN;NP_003428.1 "E109D,I236V,V337I,Y107C" "0,0,0,0" 7695 4664 sw357;dbsnp5198 IMA3_HUMAN;NP_002258.2 "K121R,P291S" "0,0" 3839 6146 sw3580;dbsnp3692 ZN140_HUMAN;NP_003431.2 "A386V,R335G" "0,0" 7699 6363 sw3581;dbsnp11142 ZN132_HUMAN;NP_003424.3 "A323S,E288V,E575Q,E86K,G203D,L642P,N442S,P191T,P252L,P570L,Q225K,R563S,R679T,T678N,Y655H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7691 4025 sw3582;dbsnp11813 ZN134_HUMAN;NP_003426.3 "A46T,I30T,S207R" "0,0,0" 7693 6073 sw3584 ZN137_HUMAN "Q181H,R112Q" "0,0" - 5100 sw3586;dbsnp18443 ZN142_HUMAN;NP_001099007.1 "A1313T,A1358V,A1680T,A541S,A541T,C1541Y,E1014K,G15R,K141Q,L652V,L956H,N488K,P104T,R319H,S369N,S751G,T1662P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7701 653 sw3587;dbsnp2315 ZN143_HUMAN;NP_003433.3 "A56G,E561Q,G461D,I193T,M45T,S337F,S495N,V36M,Y144F" "0,0,0,0,0,0,0,0,0" 7702 4714 sw3588;dbsnp20442 RBM5_HUMAN;NP_005769.1 "A593V,G398V,G729S,G788A,K163N,R695K,S685N" "0,0,0,0,0,0,0" 10181 3111 sw3589;dbsnp26372 CHIO_HUMAN;NP_004058.1 "D336N,E417K,H204R,I321T,P438S,V388I" "0,0,0,0,0,0" 1124 7237 sw358;spmut2063;dbsnp19202 STK25_HUMAN;NP_006365.2 "Q343P,Q64H" "0,0" 10494 7711 sw3591;sws432;dbsnp23844 HXK3_HUMAN;NP_002106.2 "A153V,A477D,A71E,A733G,D279N,D291Y,E635K,E797D,G175D,G246D,G281R,G284R,G442W,G722D,G904S,G97E,L54I,N624D,P236L,P301S,Q578R,Q600H,Q783H,R104C,R10W,R207W,R481C,R481H,R505Q,R549H,R644W,R708H,R73Q,R746K,R876H,R886Q,R922H,S122R,S379L,T174M,T82S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3101 2477 sw3592;dbsnp14788 EFNA3_HUMAN;NP_004943.1 "V190M,V71A" "0,0" 1944 12163 sw3593;dbsnp23064 EFNA5_HUMAN;NP_001953.1 "D179N,N55K" "0,0" 1946 12357 sw3594;dbsnp9422;hgmd0613_999 RM12_HUMAN;NP_002940.2 "C45R,S105P" "0,0" 6182 13002 sw3595;spmut497;dbsnp22346 DGKQ_HUMAN;NP_001338.2 "A438T,D576N,D730G,G566C,M858V,P27L,P886L,R349Q,R803Q,R930Q,S939G,V489M" "0,0,0,0,0,0,0,0,0,0,0,0" 1609 2376 sw3596;dbsnp422;dbsnp424;hgmd0613_757 AK1C2_HUMAN;NP_995317.1;NP_001345.1 "A70V,C206F,C206Y,D71H,F46Y,G313V,H222Q,H47R,H90Q,I79V,L172Q,N280K,N300T,Q60H,S87C,V122I" "0,0,0,0,0,0,1,0,1,1,0,0,1,0,0,0" 1646 10233 sw3599;dbsnp1931 NAR1_HUMAN;NP_004305.2 "L257P,P105L,P126R,P245L,P245R,R102H,R136H,R170H,R170P,R187Q,R192W,R89H,S300R,S97R,T101I,T101S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 417 10214 sw359;dbsnp30819 USP9Y_HUMAN;NP_004645.2 "A1060T,A1705S,E65D,N2528H,P1035S,R211C" "0,0,0,0,0,0" 8287 221 sw35;dbsnp14339 PRS38_HUMAN;NP_898885.1 "A123D,A31T,A66V,H126L,I224N,I288V,L61P,M204V,P207L,P67R,R159H,R255H,R53Q,S165Y,V77M,V7I,V84I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339501 10236 sw3600;dbsnp25980;dbsnp25981 BIEA_HUMAN;NP_000703.2;NP_001240752.1 "A105V,A134T,A3T,D52N,D82E,G20S,L104S,L37V,P5T,Q56R,R277C,Y72C" "0,0,0,0,0,0,0,0,0,0,0,0" 644 10952 sw3601;sws435;spmut1565;dbsnp7928 PLK1_HUMAN;NP_005021.2 "F230L,L261F,L332V,L463H,N297D,P499L,R354H,R518H,R581C,R599H,S595L,V530M" "0,0,0,0,0,0,0,0,0,0,0,0" 5347 5099 sw3602;spmut455;dbsnp28505 DAPK1_HUMAN;NP_004929.2 "A461S,C540Y,D1007Y,D994E,E1005Q,G1405V,I622M,K689R,K978N,L1008P,M1272I,M941T,N893K,P591L,R1010C,R977W,S1346N,S519A,T1018A,V416I,V625M,V658L,Y993C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1612 933 sw3603;dbsnp21790 NUDT6_HUMAN;NP_009014.2 "A255V,C114R,R209Q,T257I" "0,0,0,0" 11162 10498 sw3604;dbsnp7540 NUBP1_HUMAN;NP_002475.2 "A287T,D193N,E3A,I285S,P39A,P5R" "0,0,0,0,0,0" 4682 10390 sw3607;dbsnp12050 FOSB_HUMAN;NP_006723.2 "G290D,G33S" "0,0" 2354 9945 sw3609;spmut1298;dbsnp8064 MVD1_HUMAN;NP_002452.1 "A204T,A357V,G365S,L315P,L354V,N278H,R153P,R154W,T50K" "0,0,0,0,0,0,0,0,0" 4597 8579 sw360;dbsnp14093 BCL9_HUMAN;NP_004317.2 "A1366P,A383T,E478Q,G302D,G506R,L797F,L896P,M1211I,P1073L,P1095S,P113S,P1166L,P1300L,P31A,P332L,P516A,P516S,P533A,P671S,R1225P,R1225Q,R152K,R272C,R782K,R782T,S19G,S904A,S904T,T1083N,T167A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 607 947 sw3610;dbsnp23814 PGTB1_HUMAN;NP_005014.2 "A3S,D65E,I103V,P104S,R8S" "0,0,0,0,0" 5229 9035 sw3611;dbsnp14562 COPA_HUMAN;NP_004362.2 "A255T,G828E,G844D,I164V,K793N,L521F,M332V,N439S,R1083L,R745H,S489F,S895A,T146A,V1040G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1314 1330 sw3612 CATC_HUMAN E401K 0 1075 7336 sw3614;spmut1114;dbsnp17488 LIMK2_HUMAN;NP_005560.1 "A265T,D45N,E218K,E221K,G35S,N126S,P296R,P328A,R213C,R216Q,R307H,R381H,R418C,R418H,S605C,V535I,Y111F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3985 4209 sw3617;dbsnp17366;hgmd0613_1570 CLH2_HUMAN;NP_009029.3 "A1482T,A199V,E1087K,E691K,I1394T,K205R,K637R,K941R,M1316V,N1023I,N1195S,P61L,R1039W,R1046C,R1620H,R1620P,R945H,V1592L,V1592M,V44F,Y279C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8218 666 sw3619 ITA8_HUMAN "I993V,Q581P,R748H,S577F,V216L,V567L,V994A" "0,0,0,0,0,0,0" 8516 1847 sw361;dbsnp13741 LAD1_HUMAN;NP_005549.2 "A155P,A515T,A56S,E165G,K323E,L161F,L243P,M395R,P279Q,P357S,P63L,R311S,R461Q,R99Q,S39F,S39T,S64N,T274A,T285A,T503S,V433M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3898 6359 sw3620;spmut1238;dbsnp17464 MK12_HUMAN;NP_002960.2 "D230N,E163K,E269K,H231Y,L265V,P61L,R189Q,R202C,R76C,T103M,T244M,T278I" "0,0,0,0,0,0,0,0,0,0,0,0" 6300 9253 sw3621;dbsnp17067 SC5A3_HUMAN;NP_008864.3 "A490T,M301T,M639V,Q468H,Q566K,T50A,T648M,V370M,Y472C" "0,0,0,0,0,0,0,0,0" 6526 3892 sw3622;sws436;spmut2241;dbsnp16971;dbsnp16972 TTC3_HUMAN;NP_003307.3;NP_001001894.1 "A1133E,A1665G,A1834V,A413V,C1168R,D1259N,D1268G,D1526A,D1751H,E1301Q,E1743K,E401K,E59Q,E786Q,F1117L,F382L,H1598R,I69M,K1253E,K1253Q,L1355F,L1692F,L353V,L633V,M840T,N1128H,P1154S,P1305T,P1677S,Q2017H,Q654H,R1074W,R1809W,R1832C,R608C,R924H,S1063T,S1651N,S1775T,T206S,V1303L,V1461M,V1642G,V23L,V23M,V412G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7267 413 sw3623;sws437;dbsnp17542 SMTN_HUMAN;NP_008863.3 "A13V,A25G,A494V,A547P,A559V,A580T,E46Q,E774Q,G449S,G455D,L18V,L426P,M703T,N311D,P237L,R29L,R326W,R469H,R493Q,R511C,R511H,R538Q,R637W,R642C,R642H,R857H,S531N,T210P,V261L,V330L,V692M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6525 2100 sw3625;dbsnp791;dbsnp792 SC24C_HUMAN;NP_004913.2;NP_940999.1 "A828V,G147S,I374V,L934P,M387T,P109S,P255A,P255S,Q604R,R204P,R222Q,R595W,R868H,S225L,S937F,T870M,V3I,V3L,V959I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9632 1732 sw3626;spmut2118 TCP4_HUMAN S11G 0 10923 14292 sw3628;dbsnp3155 ICLN_HUMAN;NP_001284.1 "E155K,H157R,M218T,Q20H" "0,0,0,0" 1207 12178 sw362;sws15;dbsnp12972;hgmd0613_771 FAAH1_HUMAN;NP_001432.2 "A356V,A476G,A518T,G110E,H370R,P129T,R243C,R243H,R295Q,Y135C" "0,0,0,0,0,0,0,1,0,0" 2166 5424 sw3631;dbsnp22994 SYRC_HUMAN;NP_002878.2 "E7Q,F397Y,I74V,R135G,R316C,S122F,V328I,V376E,V3I,V498I,Y259C" "0,0,0,0,0,0,0,0,0,0,0" 5917 4480 sw3632;dbsnp27465;dbsnp27467 VMAT1_HUMAN;NP_001129163.1;NP_003044.1 "A101P,A117T,A450V,A74V,E133D,E252K,F82C,F84S,G140R,H223R,I136T,I164M,I168T,I202T,L385P,L392V,Q10R,R11Q,R11W,R138L,R365W,S424P,S98T,T499S,T4P,V249I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6570 6206 sw3634;spmut180;dbsnp24293;dbsnp24294 ATX1_HUMAN;NP_000323.2;NP_001121636.1 "A717V,C661S,G258C,G42A,G467S,G715S,H209Q,H211Q,I130L,I143V,I730V,P337S,P753S,R403C,S186C,S779T,T101M,T32S,V813I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6310 3112 sw3635 HAP1_HUMAN "A488V,F483L,M441T,R437W" "0,0,0,0" 9001 4357 sw3636;spmut177;dbsnp4663;dbsnp4664 ATN1_HUMAN;NP_001007027.1;NP_001931.2 "A622G,A929T,D941E,G250S,H482Q,H503Q,K236Q,M339I,P179L,P215L,Q495H,Q502H,R943H,S358C,V244L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1822 1447 sw3638 PMS2_HUMAN "K541E,N775S,P470S" "0,0,0" 5395 2815 sw3639;dbsnp3523 CACB3_HUMAN;NP_000716.2 "K262T,R128W,R24H,R397W,R423H,V44I,V60E" "0,0,0,0,0,0,0" 784 5161 sw3641;dbsnp27415 MYOM2_HUMAN;NP_003961.2 "A1045S,A1045T,A1200G,A130G,A1446T,A1463T,A197V,A219V,A33E,A382D,A394T,A786T,A938T,C648Y,D1094E,D124N,D748N,E1284D,E494K,E81K,G1107A,G578W,G665R,G724S,G792S,G929A,H672Y,I681L,K1127N,K1267I,K1399Q,K1421N,K35E,K539N,L1022F,N1381K,N721S,N869S,P1176R,P541L,P998Q,R1003H,R123C,R159W,R590Q,R69S,R88S,S269L,S466R,S523N,S601Y,S740L,S800I,S87I,S991F,T1172K,T1172M,T1302A,T1404I,T182M,T304M,T515A,T515S,T563M,T676M,T676S,T718M,T776M,T77M,T820M,V1168A,V177M,V184M,V321L,V363I,V401M,V610G,V701I,W1378L,Y353F,Y927C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9172 873 sw3642;sws438;dbsnp113 LIPR1_HUMAN;NP_006220.1 "A174P,A271V,E414D,L461P,N61D,S163A,S163F,T54I,V123M,V264M,W356L" "0,0,0,0,0,0,0,0,0,0,0" 5407 7208 sw3643 OAZ1_HUMAN "A147V,G44D,R32L,S50F,S53F" "0,0,0,0,0" 4946 12358 sw3646;dbsnp5878 HSP72_HUMAN;NP_068814.2 "A3V,C191S,E111Q,G193D,K496E,K570R,L574V,M62V,N551K,Q523R,S435T" "0,0,0,0,0,0,0,0,0,0,0" 3306 4658 sw3647;dbsnp4010 BCAT1_HUMAN;NP_005495.2 "E321K,E348K,G330S,I365V,T59M" "0,0,0,0,0" 586 8629 sw3648;dbsnp5014 AT12A_HUMAN;NP_001667.4 "A678T,A838V,D589E,E377G,E801K,G394E,G515S,I205V,I457S,L663F,M688L,N454H,P1009L,P196H,P863L,Q711K,R227Q,R32K,R517H,R955W,S327Y,T101M,T234M,T263A,T393I,V1016M,V186I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 479 1921 sw364;dbsnp2103 UPK2_HUMAN;NP_006751.1 "A39V,A47S,G93D,H52N,P50H,P50R,R152C,R63W,R8W,S68I,T160M" "0,0,0,0,0,0,0,0,0,0,0" 7379 13278 sw3650;spmut1728;dbsnp11374 RD23A_HUMAN;NP_005044.1 "D58E,G145D,G84R,Q261R,R179Q,T131A,T131K,T200M" "0,0,0,0,0,0,0,0" 5886 8401 sw3651;spmut1729;dbsnp28592 RD23B_HUMAN;NP_002865.1 "A249V,T269R" "0,0" 5887 8401 sw3652;sws440;spmut610;dbsnp21520 EPHB3_HUMAN;NP_004434.2 "A315T,E85Q,G911R,I560V,I579V,I601L,P303S,R401Q,R440C,R518C,T613I,T926N,V571M,V580I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2049 1872 sw3653;sws441;dbsnp22368 EPHA5_HUMAN;NP_004430.4 "A672T,E330Q,E528Q,H959R,N81T,R238Q,S235A,S673T,Y506C" "0,0,0,0,0,0,0,0,0" 2044 1872 sw3654;sws442;spmut611;dbsnp26785 EPHB4_HUMAN;NP_004435.3 "A14T,A198P,A198T,A371V,A453T,A453V,A492T,A882T,A955V,D576E,E890D,G382S,G462R,G893R,P208L,P231S,P67L,R535Q,R678H,V113I,V228I,V420I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2050 1872 sw3655;sws443;spmut609;dbsnp21651 EPHB1_HUMAN;NP_004432.1 "A912T,D879Y,G152R,M18V,M847T,R367G,R485S,R608W,R973W,T387M,T87S,T981M" "0,0,0,0,0,0,0,0,0,0,0,0" 2047 1872 sw3656;sws444;dbsnp19263;hgmd0613_1202 EPHA4_HUMAN;NP_004429.1 "N318S,N899K,P441T,R198H,R269Q,R953K,T974I,V97L,V986I" "0,0,0,0,0,0,0,0,0" 2043 1872 sw3657;dbsnp29634;dbsnp29635;dbsnp29636 ARSF_HUMAN;NP_001188467.1;NP_001188468.1;NP_004033.2 "D59H,E276G,H527Y,I200V,R179C,R335K,R395W,S239Y,S440L,T132M,W362C" "0,0,0,0,0,0,0,0,0,0,0" 416 5225 sw3659 GALC_HUMAN "A21P,G41S,I305V" "0,1,0" 2581 4213 sw365;sws16;dbsnp20370 CHL1_HUMAN;NP_001240316.1 "A593T,A677T,D304A,E1035D,E486K,G1081A,G1081V,G744R,H472L,I1034V,K464N,L17F,L281F,L583F,P1143L,P707S,Q624R,R623T,S30A,S369A,S553N,T287A,T36A,T485A,T564A,T959S,V12I,V224A,V300I,V519L,Y52C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10752 1349 sw3661;dbsnp15329;hgmd0613_2036 PRRX1_HUMAN;NP_073207.1 "F113S,P214S,R62Q,S104G,S200R" "1,0,0,0,0" 5396 11857 sw3662;dbsnp2147;dbsnp2148 PTN5_HUMAN;NP_008837.1;NP_116170.3 "E19D,E410K,H561R,P170A,R283H,R30K,S66P,T140M,T399N" "0,0,0,0,0,0,0,0,0" 84867 5616 sw3665;dbsnp4367 EMP1_HUMAN;NP_001414.1 "A14T,G131S,H119D,S57N,T126M,V11G" "0,0,0,0,0,0" 2012 13778 sw3666;dbsnp10727 EMP3_HUMAN;NP_001416.1 "G33E,I125V,R162Q" "0,0,0" 2014 13658 sw3667;dbsnp21883 UDB15_HUMAN;NP_001067.2 "A330V,A398V,A480T,F181I,F181V,F277V,F507Y,H282P,H282Q,I381V,K523T,K527R,L170P,M138V,R269C,R460Q,R470C,T347S,T352I,T504A,V195I,V443I,Y85D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7366 6125 sw366;dbsnp1914;dbsnp1915 VMA5A_HUMAN;NP_055437.2;NP_001123614.1 "A184T,A371T,A714G,D635E,E205K,H11Y,H759R,I612V,M450L,N592D,P476L,P602S,R226Q,R506K,R547H,R562K,R636H,R757C,R757H,R84C,S159A,S202G,S499I,V228M,V779L,Y660C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4013 3308 sw3671;dbsnp24851 AIF1_HUMAN;NP_001614.3 "D40E,G14R,I67T,I90L,L86I,S2N,S38G,T82A" "0,0,0,0,0,0,0,0" 199 14224 sw3672 S12A3_HUMAN R871H 1 6559 1980 sw3673;dbsnp9591 DRG2_HUMAN;NP_001379.1 "S224T,T194M,V193I" "0,0,0" 1819 9263 sw3674;dbsnp27503;dbsnp27504 GEM_HUMAN;NP_005252.1;NP_859053.1 "E247K,H38Y,H42Q,R258M,R268H,R43C,R43G,T126M" "0,0,0,0,0,0,0,0" 2669 10686 sw3675;dbsnp8403;dbsnp8404 RAD_HUMAN;NP_001122322.1;NP_004156.1 "G112C,Q66P" "0,0" 6236 10686 sw3676 NR1H2_HUMAN S2F 0 7376 7383 sw3677;sws446;dbsnp10729 APOC4_HUMAN;NP_001637.1 "G52D,G68E,K110T,L36P,L96R,Q126L" "0,0,0,0,0,0" 346 14293 sw3679;sws447;dbsnp16038 XPO2_HUMAN;NP_001307.2 "A575T,I754V,K67Q,K782R,M235T,Q287H,Q957H,S35P,V968L" "0,0,0,0,0,0,0,0,0" 1434 2232 sw367;spmut1512;dbsnp17287 PESC_HUMAN;NP_055118.1 "A404T,A411T,D367V,D370H,E251K,G304R,N80S,R132W,R176G,R179C,R313C,R495G,R495W,R83H,T264S,V368I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23481 5294 sw3683;spmut1464;dbsnp23287 PAR2_HUMAN;NP_005233.3 "F59L,G52R,I198V,L360F,M159I,N30S,R270L,R270P,R270Q,S21F,S373F,T291A,T291S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2150 8640 sw3684;dbsnp3691 INHBC_HUMAN;NP_005529.1 "A206S,R257H,R322Q,T166P,V138A" "0,0,0,0,0" 3626 9601 sw3686;dbsnp3722 NCKPL_HUMAN;NP_005328.2 "D66H,E603G,G749S,H73Y,I58V,L867V,M246L,P939S,R1090S,R152Q,R546H,R926W,S402L,T391A,T730M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3071 1609 sw3687 AF17_HUMAN A198T 0 4302 1741 sw3688;dbsnp11463 ELL_HUMAN;NP_006523.1 "A74V,D243N,K267R,N587S,P500A,R362C,R387W,R445H,R548Q,S297N,T235M" "0,0,0,0,0,0,0,0,0,0,0" 8178 4892 sw3689;dbsnp20072 BRPF1_HUMAN;NP_004625.2 "D473E,E1111G,G1117E,H1193Q,H779P,M1063I,R842Q,T829M" "0,0,0,0,0,0,0,0" 7862 1361 sw368;dbsnp24465 DLL1_HUMAN;NP_005609.3 "A448T,A619V,C583R,E331K,F543L,G205R,R502C,R502G,R661C,S687F,T610M,V395M,V444M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 28514 3848 sw369 CAC1A_HUMAN "A21V,E918D,E993V,G1105S,P2394S" "0,0,0,0,0" 773 239 sw3690;spmut272;dbsnp275;dbsnp277 CASP7_HUMAN;NP_203125.1;NP_001218.1 "D255E,D267A,D4E,F181L,G12E,P227L" "0,0,0,0,0,0" 840 9994 sw3692;spmut271;dbsnp22108 CASP6_HUMAN;NP_001217.2 "A109T,A34E,E35K,N73T,R43M,R65W,T182S" "0,0,0,0,0,0,0" 839 11019 sw3694;sws449;spmut545 DSRAD_HUMAN R100G 0 103 1340 sw3696;dbsnp16532 CADH4_HUMAN;NP_001785.2 "A33T,T27I" "0,0" 1002 2517 sw3697;dbsnp7312 CAD11_HUMAN;NP_001788.2 "A475V,F495L,H161Y,I691M,M275I,S373A,T255M,V347L,V478I" "0,0,0,0,0,0,0,0,0" 1009 3205 sw3698;dbsnp23465 CAD12_HUMAN;NP_004052.2 "D162H,E349D,E34Q,E86K,I284V,I475T,L757P,P223S,P364S,S529P,T21I,V418F,V497M,V68M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1010 3205 sw3699;dbsnp7758 CAD13_HUMAN;NP_001248.1 "A103V,A376T,A565S,D78N,E367Q,G113R,K624R,L121S,L643R,M352V,N382S,N39S,R246W,R65C,T290M,T670M,V112I" "1,0,0,0,1,1,0,0,0,0,0,0,1,1,0,0,0" 1012 3522 sw36;dbsnp6480 FSD2_HUMAN;NP_001007123.1 "E720K,K333T,V611A" "0,0,0" 123722 3618 sw3702;dbsnp5804 FOXA1_HUMAN;NP_004487.2 "A342V,A83T,G72A,G87E,L148V,Q185R,Q23H,S448N" "0,0,0,0,0,0,0,0" 3169 7163 sw3703;dbsnp11995 FOXA3_HUMAN;NP_004488.2 "A296T,G91R,P276A,R110W,R111W,W161C" "0,0,0,0,0,0" 3171 9652 sw3704;dbsnp27825 TPD52_HUMAN;NP_001020423.1 "D52Y,E56K,E57K,K120R,R109W,Y9H" "0,0,0,0,0,0" 7163 12451 sw3705;sws450;dbsnp17077 PKNX1_HUMAN;NP_004562.2 "Q79L,R126H,T210P,T216A" "0,0,0,0" 5316 7169 sw3706;dbsnp21046 SEC13_HUMAN;NP_899195.1 "A248T,E98K,I231V,N154S,R27H,S172L" "0,0,0,0,0,0" 6396 10343 sw3707;spmut1359 NH2L1_HUMAN T19N 0 4809 14276 sw3709;dbsnp8729 CCL23_HUMAN;NP_665905.1 "A49V,F85L,R92H,R92L,V106M" "0,0,0,0,0" 6368 14138 sw370;dbsnp28250;dbsnp28251 SDCB1_HUMAN;NP_005616.2;NP_001007068.1 "A68P,K124R,N69S,P26T,R67C,R67H" "0,0,0,0,0,0" 6386 10910 sw3713 SH3BG_HUMAN D50N 0 6450 12142 sw3715;spmut2078;dbsnp17206 SUMO3_HUMAN;NP_008867.2 "P38S,P94L" "0,0" 6612 14604 sw3716;dbsnp26069;dbsnp26070 EIF3B_HUMAN;NP_001032360.1;NP_003742.2 "D325E,D793E,E278K,E786K,N191S,P709R,Q194H,S64P,V657I" "0,0,0,0,0,0,0,0,0" 8662 3116 sw3719;dbsnp17636;dbsnp17638 BID_HUMAN;NP_001187.1;NP_001231496.1 "E120D,E120G,H162Q,M148T,M194T,R123Q,S10G" "0,0,0,0,0,0,0" 637 12111 sw371;dbsnp17978 MPP10_HUMAN;NP_005782.1 "A639T,D140N,D284E,E229D,E634K,E69A,H283D,I234T,I240T,I516N,K291E,L425M,N154S,R115C,R115H,R595Q,S305N,S41Y,V165I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10199 4256 sw3720;dbsnp258 GFRA1_HUMAN;NP_005255.1 "D14A,G382A,L329M,L371R,S460Y,T252A,T252M,T366A,Y85N" "0,0,0,0,0,0,0,0,0" 2674 7295 sw3721 DLX1_HUMAN S136C 0 1745 11037 sw3722;dbsnp26803;hgmd0613_1333 DLX5_HUMAN;NP_005212.1 "A89D,H279Y,Q178P,R231H,S234R,V80A" "0,0,1,0,0,0" 1749 11117 sw3723;sws451 TPTE_HUMAN K386E 0 7179 5822 sw3724;dbsnp16949 RRP1_HUMAN;NP_003674.1 "A270V,D67E,I194V,K326R,K360T,P268L,T186M" "0,0,0,0,0,0,0" 8568 7387 sw3725;dbsnp3471 SYMC_HUMAN;NP_004981.2 "A683D,A683G,D605N,E463G,I285T,K898T,L744F,P134S,P206L,P249L,P329H,P891S,R118W,R301C,R376Q,R483C,R706C,R727Q,R816H,S209N,T227I,T32I,T32S,T797I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4141 2612 sw3727 CATW_HUMAN "Q218R,S139G" "0,0" 1521 9069 sw3728;spmut2117;dbsnp5954;dbsnp5955 TCL1A_HUMAN;NP_068801.1;NP_001092195.1 "R52H,R93H,V103M,V11I,V56I" "0,0,0,0,0" 8115 14487 sw3729;dbsnp6018 DPOE2_HUMAN;NP_002683.2 "H84P,I348T,I497V,L275I,L456V,P108L,P150L,P514L,Y472H" "0,0,0,0,0,0,0,0,0" 5427 6176 sw372;dbsnp16041 NOP56_HUMAN;NP_006383.2 "A432T,A456V,D138G,E524D,I121V,M236T,M475T,N205S,P98S,R212H,V576A,V576D,V576G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10528 5204 sw3730;dbsnp1913 P2RX3_HUMAN;NP_002550.2 "A383V,A71T,R145Q,S390L,S59L" "0,0,0,0,0" 5024 8641 sw3731;dbsnp5512 68MP_HUMAN;NP_004885.1 "I9L,I9V,R39Q" "0,0,0" 9556 14852 sw3732;dbsnp16559;hgmd0613_1546 ATP5E_HUMAN;NP_008817.1 "E30K,T29K,Y12C" "0,0,1" 514 14932 sw3733;dbsnp11738 LEG4_HUMAN;NP_006140.1 "P120L,R284H,T16M,T264N,V74A" "0,0,0,0,0" 3960 10318 sw3735;dbsnp1072;dbsnp1073 CTBP2_HUMAN;NP_001077383.1;NP_001320.1 E47D 0 1488 2163 sw3736;dbsnp17442;hgmd0613_948 NDUA6_HUMAN;NP_002481.2 "A35V,H134Y,S21N" "0,0,0" 4700 13830 sw3737;dbsnp25414;hgmd0613_1088 PEX3_HUMAN;NP_003621.1 "E266D,G138E,Q82R,R54Q,V69L" "0,1,0,0,0" 8504 9132 sw3738;dbsnp12955 PER3_HUMAN;NP_058515.1 "A1007T,A18S,A715V,A763V,C1176S,D854H,E1052K,E1052Q,E571Q,E831K,F97V,H1020Q,H1149R,H416R,H764R,H984Y,I1069M,L1030S,L664F,L827P,L829W,M1028T,N564T,P414A,P835S,P856A,Q45K,Q931K,R741W,S1012L,S1081C,S704N,S750N,T1010I,T1025A,T1040I,T1111I,T1168A,T519A,V419M,V639G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8863 1417 sw373;dbsnp20340 CXCR6_HUMAN;NP_006555.1 "D25A,E3K,K177N,V239A" "0,0,0,0" 10663 9850 sw3743;dbsnp22296 NETR_HUMAN;NP_003610.2 "A606S,D819E,G13R,G175S,G608D,I727V,L10V,P147L,R55T,R797C,R797H,R833Q,S820C,V424I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8492 2735 sw3744;dbsnp7547 CLD6_HUMAN;NP_067018.2 "C84R,I143V,M29V,R209Q,V130L,V220I" "0,0,0,0,0,0" 9074 10807 sw3745;dbsnp16938 CLD8_HUMAN;NP_955360.1 "A94V,G20D,M97T,P216L,S151P,S208R,T129A,T205I,T25A" "0,0,0,0,0,0,0,0,0" 9073 12435 sw3746;dbsnp17135 CLD17_HUMAN;NP_036263.1 "A82T,E78K,Q193R,R203C,R61W,R81Q,V42A" "0,0,0,0,0,0,0" 26285 12435 sw3747 BACE1_HUMAN "C481R,V265A" "0,0" 23621 6633 sw3748;dbsnp5756 EP3B_HUMAN;NP_071755.1 "D51G,L5V,M141I,R43Q,R90Q" "0,0,0,0,0" 64184 13971 sw3749;dbsnp21004 CLD18_HUMAN;NP_057453.1 "A195T,G159D,I133V,K257R,M149L,V88I" "0,0,0,0,0,0" 51208 11671 sw3751 NRG3_HUMAN K552N 0 10718 3876 sw3752;dbsnp16925 RBM11_HUMAN;NP_658983.3 "D196N,E267K,H233R,I105T,L116V,N130S,R273Q" "0,0,0,0,0,0,0" 54033 11251 sw3753;dbsnp17015 PIGP_HUMAN;NP_710148.1 "I100F,I90V,L18W,P3S,R136S,S63F,T9A,V42I,Y118C" "0,0,0,0,0,0,0,0,0" 51227 13762 sw3754;dbsnp16915 GLPT_HUMAN;NP_061837.3 "A404T,D247N,F530L,G314D,S415C,V112M,V176I,V224I,V305I,V414I,V61I" "0,0,0,0,0,0,0,0,0,0,0" 54020 6088 sw3755;dbsnp17081 HUNK_HUMAN;NP_055401.1 "E625K,G541E,K495R,L697P,M472I,M648T,P535L,P630S,R157W,R427Q,R591C,S595G" "0,0,0,0,0,0,0,0,0,0,0,0" 30811 3927 sw3756;sws454;spmut1940;dbsnp16929 SIK1_HUMAN;NP_775490.2 "A264T,A294V,A615V,A725V,D142N,F292Y,G15S,M405I,P358A,P420L,P696L,R430W,S367L,V434L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150094 3326 sw3757;dbsnp16999 PRD15_HUMAN;NP_071398.3 "A168V,A540T,E1144D,E599K,G124D,G541S,G903R,K969R,L647P,N893D,P1438R,P176S,P297L,P347L,R366G,R724Q,S1481P,S697L,T1197M,T1376S,T474I,V1342I,V1409M,V266L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63977 813 sw3758;spmut2313;dbsnp17017 UBS3A_HUMAN;NP_061834.1 "A546V,C327S,D121E,D430E,D466E,I539V,I658V,L28F,M553L,P332L,P577L,Q286R,R324L,R324Q,R402H,S18G,S372R,T144M,T336M,V168I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 53347 4468 sw3759;dbsnp17042 TAK1L_HUMAN;NP_064537.1 "I112V,P64S,V116M,V54A,Y50C" "0,0,0,0,0" 56911 12074 sw375;dbsnp17639 MFNG_HUMAN;NP_002396.2 "A112V,A151V,C23G,D128E,L30V,N204S,P294L,R174W,R228W,R302C,R7G" "0,0,0,0,0,0,0,0,0,0,0" 4242 8995 sw3760 RIPK4_HUMAN "I462N,N562Y" "0,0" 54101 3020 sw3761;dbsnp16907;dbsnp16908 WDR4_HUMAN;NP_387510.1;NP_061139.2 "A259V,F357L,K71N,L235P,M346V,P155A,P266S,R341C,R390Q,S182T,T199I,V196M,V281L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10785 8334 sw3763;dbsnp17078 JAM2_HUMAN;NP_067042.1 "P142T,S183F,S286R,Y27C" "0,0,0,0" 58494 10911 sw3764;dbsnp5764 SYJ2B_HUMAN;NP_060843.2 "L100S,N15S,N26T,R142Q,R4K,V9I" "0,0,0,0,0,0" 55333 13156 sw3765;dbsnp8544 GEMI4_HUMAN;NP_056536.2 "A579G,D2E,D929N,E593V,F182L,F782L,H873Q,I502V,I739T,L714I,M992V,N571S,P749L,Q258R,Q450E,R1033C,R684Q,S1023R,T529S,V376A,V824F,V913I,Y1002H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50628 1864 sw3767;dbsnp22332 KLF3_HUMAN;NP_057615.3 "N233T,P85L,P85R,R207S,V153I,V167I" "0,0,0,0,0,0" 51274 9789 sw3768;dbsnp19958;dbsnp19959;dbsnp19960 PCBP4_HUMAN;NP_127501.1;NP_127503.1;NP_001167571.1 "G198S,N96Y,S372A,T383I" "0,0,0,0" 57060 8520 sw376;dbsnp20316 CCBP2_HUMAN;NP_001287.2 "A248V,A293T,F212S,G131D,G218A,L311V,R320H,S172C,V41A,Y373F,Y373S" "0,0,0,0,0,0,0,0,0,0,0" 1238 8907 sw3770;dbsnp7645 CORO7_HUMAN;NP_078811.3 "A174V,A31T,A403T,D920E,G168A,G311E,G519A,L257S,L854F,P677R,P740S,R178Q,R193Q,R202Q,R630G,R630Q,R630W,R69H,R870L,R907Q,T245M,V339L,V339M,V419M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79585 1909 sw3771;spmut1989;dbsnp27904;dbsnp27905 SNX16_HUMAN;NP_690049.1;NP_071416.2 "E182K,E281G,N48S,P98L,R89G" "0,0,0,0,0" 64089 9810 sw3772;dbsnp21077 SELB_HUMAN;NP_068756.2 "A435V,E539K,F463L,F581C,P152S,P223L,P40Q,R285Q,R347Q,R591H,V420I,V504M,V91F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 60678 5181 sw3773;dbsnp13168 CXA9_HUMAN;NP_110399.2 "C320S,D311G,G450S,G8R,L422F,P405S,S337N,S464P,T451I,V497I" "0,0,0,0,0,0,0,0,0,0" 81025 6390 sw3774;dbsnp5444 KCNKA_HUMAN;NP_066984.1 "A438V,A512T,K70Q,P528L,Q228K,R477W,R526Q,T249M,V52A" "0,0,0,0,0,0,0,0,0" 54207 5953 sw3776;dbsnp13725 SESN2_HUMAN;NP_113647.1 "A260V,H309Y,P228S,R274W,R36W,R437Q,R448H,T320A,V50M" "0,0,0,0,0,0,0,0,0" 83667 5835 sw3777;dbsnp2308 SESN3_HUMAN;NP_653266.2 "E244D,I227T,N231S,R71C,T37K,V465I" "0,0,0,0,0,0" 143686 5835 sw3779;dbsnp25057 OR2B6_HUMAN;NP_036499.1 "A106P,E204V,G300S,I126V,Q270R,R20G,V117I" "0,0,0,0,0,0,0" 26212 9497 sw377;sws18;dbsnp23142 GBRP_HUMAN;NP_055026.1 "D269N,D376N,F391L,G57C,N55S,R200H,R293C,R91H,T155M,T343I,V10M,V349A" "0,0,0,0,0,0,0,0,0,0,0,0" 2568 7761 sw3780;dbsnp9766 OR4D2_HUMAN;NP_001004707.1 "A236S,C97S,F114L,L187F,L29I,N5D,P266L,R122H,R21Q,R260W,R290K,T263A,T38I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 124538 10502 sw3781;dbsnp2488 O10A3_HUMAN;NP_001003745.1 "E269K,F20V,G109R,G253S,M154T,M228K,M257K,N172S,P21H,T160A,T279M,T282N,W162S,Y132H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26496 10475 sw3782;dbsnp24670 O12D2_HUMAN;NP_039224.2 "A241V,A262E,A274T,C70F,C70Y,F113L,F266S,H173Y,I179M,I179V,L11P,L120R,L56P,N165K,N285K,S104F,S121C,S242P,S85P,V132G,V159I,V27M,V47F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26529 10509 sw3783;dbsnp19103 LOXL3_HUMAN;NP_115992.1 "G329S,I615F,N266S,P181L,P27A,R106H,R106L,R354Q,R375C,R375H,V374L" "0,0,0,0,0,0,0,0,0,0,0" 84695 3416 sw3784;dbsnp14294 PROK1_HUMAN;NP_115790.1 "M10L,R48W,R55W,V67I" "0,0,0,0" 84432 14583 sw3787;dbsnp21055 MLF1_HUMAN;NP_071888.1 "A143T,D11G,D76G,G60C,M78I,N250K,P226T" "0,0,0,0,0,0,0" 4291 10903 sw3788;dbsnp22927 ATS12_HUMAN;NP_112217.2 "A23V,D1393E,D173H,D426N,E1422Q,G48S,G738R,K100E,K1517R,L298F,L499Q,L9F,N1012S,N1468S,P1025S,P1038L,P1244A,P1414T,P30H,Q110E,R1000Q,R1079C,R1398W,R297Q,R508C,R638Q,R705K,R856C,R856H,S1115L,S1591P,T1201I,T1241A,T1495I,T154M,W1177R,Y439D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81792 737 sw378;dbsnp26338 PODXL_HUMAN;NP_001018121.1 "A371T,D433E,E426K,G112S,G396S,I55S,K547R,M522V,P298A,P390L,P451L,S194L,S253L,S273L,T126P,T60R,T93R,V358I,V540I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5420 5718 sw3790;dbsnp17035 FAM3B_HUMAN;NP_478066.3 "D157N,G195D,M182I,V14M" "0,0,0,0" 54097 12223 sw3791;dbsnp17120 F165B_HUMAN;NP_478062.1 "A28V,K51R" "0,0" 54065 14916 sw3793;dbsnp9224 RHBL3_HUMAN;NP_612201.1 "P404R,R195H,V255M" "0,0,0" 162494 7806 sw3795;sws458;dbsnp20661 RTP1_HUMAN;NP_714919.2 "A212G,F257L,G136D,I253V,M37I,Q181R,Q229E,R174C,S222N,V106L" "0,0,0,0,0,0,0,0,0,0" 132112 11622 sw3796 NALP6_HUMAN "M163L,Y361F" "0,0" 171389 2652 sw3797;dbsnp10845 NAL11_HUMAN;NP_659444.2 "A1020V,A188S,C548R,C792G,E154D,E174K,E556K,E736K,H189Q,I58V,I977L,L335V,L922I,N17D,N233D,N774S,P438L,Q388R,R32C,R351Q,R907Q,S1025L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 204801 1969 sw3798;dbsnp12100;hgmd0613_2306 NAL12_HUMAN;NP_653288.1 "A629D,A629V,D1002N,D142N,D898Y,E355K,E419G,E619K,F402L,G39V,G683R,G729R,H304Y,K743Q,K770T,N712S,P319R,R138W,R206C,R206H,R318G,R343W,R451H,R859Q,R867C,R919W,T179I,T860S,V187M,V541L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91662 1850 sw3799;dbsnp10908 NALP5_HUMAN;NP_703148.4 "A1097T,G1185S,H584P,M459I,M912T,N1023S,N965K,R1195Q,R136Q,R562H,R761L,R796W,S1108C,T241N,V1181I,W275R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126206 1419 sw379;sws19;spmut686;dbsnp28916 FCN1_HUMAN;NP_001994.2 "G241R,G43D,N289S,P78L,R124Q,R160Q,R160W,R93Q,R99H,S201N,S268P,T150M,V14L,Y126H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2219 10237 sw37;dbsnp23654 PL8L1_HUMAN;NP_001025040.1 "C11S,F91L,I166M,I65V,R40K,S29T,T172A" "0,0,0,0,0,0,0" 153770 13413 sw3800 CU094_HUMAN C49Y 0 - 14906 sw3801;dbsnp10456 STAR6_HUMAN;NP_631910.1 "D113N,E159K,R212H,W74R" "0,0,0,0" 147323 12526 sw3802;dbsnp5023 DAOA_HUMAN;NP_758958.3 "G60R,K62E,R30K" "0,0,0" 267012 13857 sw3803;dbsnp5414 TPPP2_HUMAN;NP_776245.2 "A108T,E136Q,G107D,N93K,R133L,R146W,T113I,T44R" "0,0,0,0,0,0,0,0" 122664 12561 sw3804 ATS20_HUMAN "K876M,R1000H,S1273F" "0,0,0" 80070 462 sw3805 T2R38_HUMAN "A262V,A49P,I296V" "0,0,0" 5726 10070 sw3806;dbsnp26732 T2R39_HUMAN;NP_795362.2 "D107N,F142S,G317E,K197E,S193F,S253N" "0,0,0,0,0,0" 259285 9946 sw3807;dbsnp26528 T2R40_HUMAN;NP_795363.1 "S187Y,V23L" "0,0" 259286 9946 sw3808;dbsnp26537 T2R41_HUMAN;NP_795364.2 "E75K,L242F,P127L,S235Y" "0,0,0,0" 259287 10708 sw3809;dbsnp3881 T2R31_HUMAN;NP_795366.2 "A227V,D176E,D45H,L162M,L162V,L237F,L98P,M132I,M132V,P259L,P276R,Q143H,Q217E,R298T,R35W,T83A,V240I,W281C,Y76C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259290 10420 sw380;dbsnp14345 CYR61_HUMAN;NP_001545.2 "A36V,R334W,S316C" "0,0,0" 3491 8949 sw3810;dbsnp3806 T2R46_HUMAN;NP_795368.2 "I278M,K305R,L228M,T16I,V87G,Y85S" "0,0,0,0,0,0" 259292 10420 sw3811;dbsnp4054 T2R19_HUMAN;NP_795369.1 "C106Y,C264Y,E159K,F290C,F290S,F290Y,G282R,H205R,I225V,I240T,K109T,K126Q,K258N,L102F,L252P,L261F,M209T,P136R,R152S,R299C,R299H,R299L,R39Q,V129L,V267L,V32I,W295C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259294 10420 sw3812;dbsnp3974 T2R20_HUMAN;NP_795370.2 "F252S,G135E,H143Q,H148N,I236V,I270V,K79E,M172I,R255L,V13A,V141I,V162I,V70G,W88L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259295 10420 sw3813;dbsnp3570 T2R50_HUMAN;NP_795371.2 "A61S,C203Y,F118L,G164E,Q210H,R124G,S127N" "0,0,0,0,0,0,0" 259296 10420 sw3814;dbsnp24336 GPX6_HUMAN;NP_874360.1 "A45D,D161G,E136D,F13L,P157S,Q58H,Q6L,V140M,V188A,Y53H,Y72N" "0,0,0,0,0,0,0,0,0,0,0" 257202 12410 sw3815;dbsnp12242 SELV_HUMAN;NP_874363.1 "K284R,R104Q,R80W" "0,0,0" 348303 9763 sw3816;dbsnp17348 Z280A_HUMAN;NP_542778.1 "E160K,F486L,F79L,G249A,I310V,K71N,L276F,M383T,N136S,N246S,N278D,P143T,R488S,S110L,S110W,S162C,T415M,T513I,T526M,Y137S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 129025 5959 sw3817;dbsnp16072 BPIB3_HUMAN;NP_872599.1 "A215S,A412T,D260E,D301N,G66C,H334Q,L194H,L235F,L328P,M125R,P449S,R423H,S394L,S59L,T166M,T290M,V141L,V186M,V228M,V251M,V435M,V63M,Y369C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 359710 7076 sw3818;dbsnp16214 BPIB4_HUMAN;NP_872325.2 "A165V,A387T,D199G,D573E,F527L,G132D,G167W,G192S,G206W,G215V,G309R,I229V,I268V,K277N,L191R,L563F,L609I,M490T,N320T,P405L,P472L,P71S,P73Q,R104G,R149Q,R289Q,R69P,T285M,T29M,T382M,T533I,V568L,V605M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 149954 4979 sw3819;dbsnp2012 DCDC1_HUMAN;NP_861523.2 "E225K,E7G,K277E,R276W,R285K,T239M,T69A,V83M" "0,0,0,0,0,0,0,0" 341019 9554 sw3820;dbsnp11373 LIRA4_HUMAN;NP_036408.3 "A317T,A390S,D313G,D313N,G372R,G397S,H408L,H408Y,H438D,I155V,M450V,N402D,P27L,R20W,R266H,R366H,R399C,R399H,R399L,R472G,S473N,T124I,T335A,V301L,V416M,V452M,Y404H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23547 4574 sw3821;dbsnp20774 ZN445_HUMAN;NP_852466.1 "A676T,E124K,E957G,G836V,H909N,I702V,I906T,K758E,M423I,P202S,Q670H,R372G,R631T,R85K,R908S,S391L,S470A,S488N,S582A,S712R,Y428C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 353274 1976 sw3822;dbsnp24771 MCCD1_HUMAN;NP_001011700.2 "A70T,E42K,G58R,R15C,S45N,T44A,T53M" "0,0,0,0,0,0,0" 401250 14412 sw3823;dbsnp17038 KR122_HUMAN;NP_859012.1 "A116V,A16M,A16T,A16V,A23T,P112S,S143P,S29C,S29P,S29R,V106M,V133I" "0,0,0,0,0,0,0,0,0,0,0,0" 353323 13997 sw3824;dbsnp16927 KR10A_HUMAN;NP_859016.1 "A181T,C126S,C30S,D83A,D83N,E121K,E28A,E28D,K111M,Q129P,R18Q,R237C,R237H,S37C,T72P,T86S,V101E,V101M,V106E,V106M,V116M,V158M,V204M,V206I,V20D,V234M,V98A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 353333 8561 sw3825;dbsnp27483 DEFB1_HUMAN;NP_005209.1 "A48V,C67S,F24C,K63T,V38F,V38I,Y35C,Y35S" "0,0,0,0,0,0,0,0" 1672 14886 sw3826;dbsnp5547;dbsnp5548;dbsnp5549 RNAS9_HUMAN;NP_001001673.2;NP_001103826.1;NP_001103827.1 "A100V,C123R,E138K,F148S,H9P,K41T,K50Q,L23P,R177H,R68H,R97C,S204L,S204P" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390443 12752 sw3829;spmut590;dbsnp27837 EIF3E_HUMAN;NP_001559.1 "A185V,D322E,I177T" "0,0,0" 3646 7666 sw382;dbsnp29722;dbsnp29723 PIR_HUMAN;NP_001018119.1;NP_003653.1 "C106F,D232N,G223D,P129L,P214T,R23T,R97W,V228A" "0,0,0,0,0,0,0,0" 8544 11091 sw3830;dbsnp12654 NANO2_HUMAN;NP_001025032.1 "G60A,H68Q,R26Q,R73C" "0,0,0,0" 339345 14117 sw3831;dbsnp17072 KR123_HUMAN;NP_941970.2 "H17R,P8Q,V54M" "0,0,0" 386683 13997 sw3832;dbsnp16921 KR101_HUMAN;NP_941964.2 "A21D,A260P,C252R,C9R,D159A,D159E,D159S,D159Y,H30P,M246V,P280L,P39L,R241Q,V101M,V8I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 386677 8561 sw3833;dbsnp16917 KR102_HUMAN;NP_941966.1 "A117P,N15D,P107T,P177L,P190S,P64S,R141H,R241G,S11R,S78L,V191I" "0,0,0,0,0,0,0,0,0,0,0" 386679 8561 sw3834;dbsnp16918 KR103_HUMAN;NP_941969.2 "A209V,C170Y,G212S,I174V,P39L,T3A,T3M" "0,0,0,0,0,0,0" 386682 8561 sw3835;dbsnp16924 KR105_HUMAN;NP_941967.2 "A244V,C4S,D20N,F183C,P167L,P207L,P30H,P58S,R268P,V191I,V235L,Y247C" "0,0,0,0,0,0,0,0,0,0,0,0" 386680 8561 sw3836;dbsnp16920 KR106_HUMAN;NP_941961.2 "A227T,C124Y,C68S,G16S,H309Q,P300S,P74S,V159I,V341I" "0,0,0,0,0,0,0,0,0" 386674 8561 sw3837;dbsnp16919 KR104_HUMAN;NP_941960.1 "D31A,G285C,I159V,P69R,R62C,S11G" "0,0,0,0,0,0" 386672 8561 sw3838 KR107_HUMAN "M116V,Q220K,S290T,T325A,Y129C" "0,0,0,0,0" 386675 8561 sw3839;sws459;dbsnp16926 KR108_HUMAN;NP_941968.2 "C128Y,C134G,C155Y,C254S,H26R,I137L,P106L,R251C,R251H,S207F,V132L,V24M" "0,0,0,0,0,0,0,0,0,0,0,0" 386681 8561 sw383;dbsnp7696 CCL22_HUMAN;NP_002981.2 "A29T,D2A,P61L,Y40H" "0,0,0,0" 6367 14731 sw3840;dbsnp17065 KR109_HUMAN;NP_941963.2 "A152V,A242T,G214S,P200S,P274L,P87L,R236C,R257C,R278C,R52H,T34P,V231M,Y182C,Y89C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 386676 8561 sw3841;dbsnp16934 KR10B_HUMAN;NP_941965.2 "A12T,C221R,P270L,R269C,R279C,S130F,S220N" "0,0,0,0,0,0,0" 386678 8561 sw3842;dbsnp17121 KR10C_HUMAN;NP_941972.1 "C236Y,G226S,P146Q,P69S,P71A,R57C,S83L" "0,0,0,0,0,0,0" 386685 8561 sw3844 GBRL2_HUMAN V51A 0 11345 14438 sw3845;dbsnp16739 ROMO1_HUMAN;NP_542786.1 "A28P,A4T,G9R" "0,0,0" 140823 14828 sw3846;dbsnp4168 MYL6_HUMAN;NP_066299.2 "G84S,T103P,T85I,T85P,V145L" "0,0,0,0,0" 4637 12791 sw3848;dbsnp1396 ZP1_HUMAN;NP_997224.2 "D107N,E415K,G241E,L384M,P182A,P360T,R71Q,T158I,V247M,V324M,V93I" "0,0,0,0,0,0,0,0,0,0,0" 22917 4715 sw3850 DSS1_HUMAN D17G 0 7979 14875 sw3851;dbsnp6339 PSA6_HUMAN;NP_002782.1 "A233S,K45Q" "0,0" 5687 11990 sw3852;dbsnp29479 RAB14_HUMAN;NP_057406.2 "A4T,T203I" "0,0" 51552 12581 sw3853;dbsnp21038 SMS_HUMAN;NP_001039.1 "A11V,E78K,N61T" "0,0,0" 6750 14449 sw3856 PFD3_HUMAN M123V 0 7411 13029 sw3859;dbsnp5798 DAD1_HUMAN;NP_001335.1 "A83T,Q86E" "0,0" 1603 14502 sw385;dbsnp8077 NET3_HUMAN;NP_006172.1 "D32N,K461R,P425S,R221H,R342Q,R359Q,R415C,Y244D" "0,0,0,0,0,0,0,0" 4917 5089 sw3860;dbsnp14354;hgmd0613_1035 TGFB2_HUMAN;NP_003229.1 "H2R,P119L,R91H,S261N,S275G,V207L" "0,0,0,0,0,0" 7042 7731 sw3862 RL37_HUMAN G81E 0 6167 14695 sw3863;spmut2077 SUMO2_HUMAN D16N 0 6613 14604 sw3864;dbsnp22328 UBP46_HUMAN;NP_073743.2 "A81V,V96I" "0,0" 64854 9202 sw3865;hgmd0613_817;hgmd0613_1547 CALM_HUMAN M73T 0 808 13693 sw3866;sws465;dbsnp9413 PRS8_HUMAN;NP_002796.4 "R258W,S395N" "0,0" 5705 8458 sw3867;dbsnp13288 RS8_HUMAN;NP_001003.1 "L199F,R110G" "0,0" 6202 12779 sw3868;dbsnp4315 BTG1_HUMAN;NP_001722.1 "N139S,Q141E" "0,0" 694 13525 sw3869;dbsnp29258 RL7A_HUMAN;NP_000963.1 "A203T,A24V,P14L" "0,0,0" 6130 11561 sw386;dbsnp24278 TRI38_HUMAN;NP_006346.1 "E90G,G421R,I165T,P463Q,R53S,S21G,S327Y,T295N,V132I,Y197C" "0,0,0,0,0,0,0,0,0,0" 10475 7293 sw3870;spmut634;dbsnp14480 ERR3_HUMAN;NP_001429.2 "A64T,R204H,T50M" "0,0,0" 2104 6498 sw3872;dbsnp29392 RS6_HUMAN;NP_001001.2 "A40T,K221R,K23R,R51Q" "0,0,0,0" 6194 11930 sw3873;dbsnp18149 VISL1_HUMAN;NP_003376.2 "A65G,K172R" "0,0" 7447 13130 sw3874;dbsnp25652 H2B1C_HUMAN;NP_003509.1 "A10V,A22V,G27S" "0,0,0" 8339 14189 sw3878;dbsnp25701 RL10A_HUMAN;NP_009035.3 "M1V,T154P,V172M" "0,0,0" 4736 12585 sw387;dbsnp24786 E2F3_HUMAN;NP_001940.1 "A376T,A401S,D389N,E432D,G344R,M394L" "0,0,0,0,0,0" 1871 7294 sw3880;spmut1786;dbsnp27820;dbsnp27821 RL8_HUMAN;NP_150644.1;NP_000964.1 "I98V,R128L,R128Q" "0,0,0" 6132 11762 sw3883;dbsnp23600 SKP1_HUMAN;NP_733779.1 "D83G,F14L" "0,0" 6500 13659 sw3884;dbsnp26676 GBG1_HUMAN;NP_068774.1 "E50K,E50Q,F64L" "0,0,0" 2792 14857 sw3887;dbsnp17983 TYB10_HUMAN;NP_066926.1 "E25D,M7R" "0,0" 9168 14938 sw3893 HBG1_HUMAN "A129T,A54D,D23G,D44N,D74H,D74N,D80N,D81N,D81Y,E122K,E6K,E7G,E7Q,G73R,H98R,I76T,K62E,P37R,Q40R,R41K,T13R,V135M,W38G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3047 13966 sw3896;spmut441;dbsnp17129 CXAR_HUMAN;NP_001329.1 "A251V,P356S,R328H,S323R,S346G,T94K" "0,0,0,0,0,0" 1525 9295 sw3897;dbsnp21727 F193A_HUMAN;NP_001243595.1 "A675V,D1088N,E1098D,I1115V,K1015R,M192V,N175S,N967S,P256L,P25A,P424Q,P441L,P571L,P735S,R196Q,R839K,R916C,R923Q,S1199L,S264L,S389G,S581L,T110A,T1123A,T151N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8603 1242 sw3899;dbsnp21806 NOP14_HUMAN;NP_003694.1 "A20V,A524V,C572F,D251N,E359K,E775K,E775Q,G169S,H563Q,L380S,L749F,M272K,P752L,Q208H,Q716R,R329H,R697C,R751Q,R769Q,R825W,S782C,T493R,T558A,V344G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8602 2853 sw3900;dbsnp30026 IGBP1_HUMAN;NP_001542.1 "H108R,I203T,Q103H,R106Q,R20K,R275Q,T264I" "0,0,0,0,0,0,0" 3476 9923 sw3901;dbsnp16295;dbsnp16296;dbsnp16297 SHPS1_HUMAN;NP_001035111.1;NP_001035112.1;NP_542970.1 "A158V,A20P,A389E,A389P,A389T,A463T,A486L,A57V,D40E,D95E,E190Q,E220G,E77K,F134L,G109S,G357S,G75A,I372F,I61N,K214N,K439E,L44S,L96F,L96P,L96S,N100D,N100E,N100K,N81H,P339S,P353L,P460L,P482S,P491L,Q163D,Q236R,Q261L,Q443R,R107S,R125Q,R219H,R251Q,R276T,R370Q,R54H,S367P,T181S,T249A,T50S,T52I,V132A,V132M,V132T,V198L,V201I,V222I,V263M,V271I,V302F,V302L,V379G,W68R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140885 6578 sw3903;dbsnp11298 CP4F2_HUMAN;NP_001073.3 "A16P,A224S,A269D,A476T,A483G,E129K,E517Q,G185V,K479R,K479T,L278F,L341V,L519M,P97T,R146H,R257C,R276C,R400C,R46L,R490H,S100G,S2F,S7Y,V433M,W12G,W131L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8529 6107 sw3905;dbsnp20232 RBM6_HUMAN;NP_005768.1 "A382V,C1057S,D234G,E333K,E405A,G390S,H60L,K853E,N721S,N721T,P172L,R1016C,R1016H,R650H,S1034Y,S353F,T468I,T530A,Y75C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 10180 1646 sw3906;dbsnp4929 GPC5_HUMAN;NP_004457.1 "A155V,A265V,E555Q,H331Y,P259L,P259R,Q329R,S186I,S355N,T379M,T91M,Y151H" "0,0,0,0,0,0,0,0,0,0,0,0" 2262 5522 sw3907;dbsnp29658 GBRE_HUMAN;NP_004952.2 "E435D,E52K,F245L,G278A,G66S,H372Y,P421L,P437L,R34C,R438C,R452G,R472H,R479L,S102A,S63R,V103I,V502F,Y38C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2564 6542 sw3909;dbsnp2721;dbsnp2722 IF4G2_HUMAN;NP_001166176.1;NP_001409.3 "A150V,E554A,L236M,S653T" "0,0,0,0" 1982 2575 sw3910;dbsnp26;dbsnp27;dbsnp28 RPP38_HUMAN;NP_892117.1;NP_001091059.1;NP_006405.2 "A114V,A181G,E88D,F236S,I212T,I86V,K68E,L239P,P8L,R250G,S202R,T47M,T95I,V171I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10557 11217 sw3913;dbsnp9643 CNTP1_HUMAN;NP_003623.1 "D1114G,D1140N,E129D,G945S,L6P,P473A,P800A,P993L,R526Q,R834H,R935H,S1091R,S42Y,T299S,V1130L,V522L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8506 1008 sw3914;sws468;dbsnp26051 SRPK2_HUMAN;NP_872633.1 "H612Q,K259E,K259Q,L615I,L681F,P43L,P515T,S486F,S608N,T426P" "0,0,0,0,0,0,0,0,0,0" 6733 4088 sw3916;dbsnp3437 PHC1_HUMAN;NP_004417.2 "A202P,A249V,A704T,G909E,M658V,P781S,R355Q,R911H,T693A,T711I,V1000D" "0,0,0,0,0,0,0,0,0,0,0" 1911 2092 sw3917;dbsnp12043 KC1G2_HUMAN;NP_001310.3 "A363V,E194G,E208Q,F189L,G320V,I196T,K113N,K159R,R207S,R217C,T151A,T223M,T355A,T367I,V173L,Y206C,Y206H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1455 7494 sw3919;dbsnp8580 S35B1_HUMAN;NP_005818.1 "I281V,K312N,R81H,T54S" "0,0,0,0" 10237 10344 sw3922;dbsnp17428;dbsnp17429;dbsnp17430;dbsnp17431;dbsnp17432 PRAME_HUMAN;NP_996836.1;NP_006106.1;NP_996839.1;NP_996837.1;NP_996838.1 "D304E,I196T,K224R,L47F,L47M,M218V,M360L,N204S,N435S,R24G,R24W,R263C,R459S,V112D,V359D,W7R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23532 6483 sw3923;dbsnp25088;dbsnp25091;dbsnp25092 BT3A2_HUMAN;NP_001184176.1;NP_001184175.1;NP_008978.2 "A182T,N181D,P240L,R167T,R211K,S307N,V78M" "0,0,0,0,0,0,0" 11118 5358 sw3924;dbsnp23190 IRX4_HUMAN;NP_057442.1 "A119T,A121T,G143S,R165C,V297I,Y221H" "0,0,0,0,0,0" 50805 6324 sw3925;dbsnp7419 IRX3_HUMAN;NP_077312.2 "G47A,L422P,Q479H" "0,0,0" 79191 6634 sw3926;spmut819;dbsnp8 GSTO1_HUMAN;NP_004823.1 "A140D,A236V,C32Y,E208K,M29T,N168S,R7K,S86C,T163I,Y239C" "0,0,0,0,0,0,0,0,0,0" 9446 12058 sw3927;dbsnp7974 X3CL1_HUMAN;NP_002987.1 "A235D,A240V,A311D,A62V,G266S,P234S,P241L,P309H,P3L,R11H,R246H,S208R,T172M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6376 8642 sw3928;dbsnp26169 PO6F2_HUMAN;NP_009183.3 "A245V,A447G,E639K,G409S,L500M,N202S,P199L,P273L,Q192H,T676P" "0,0,0,0,0,0,0,0,1,0" 11281 4153 sw392;dbsnp28414 F16P2_HUMAN;NP_003828.2 "A163T,E145K,I289T,L279P,S211N,T224A,T224S,V86L,Y216C" "0,0,0,0,0,0,0,0,0" 8789 9922 sw3931;dbsnp25969 RELN_HUMAN;NP_005036.2 "A1574T,A2371T,A2696T,A26V,A3147T,A985G,C1422Y,D1452N,D2012E,D2982N,E1699K,E2174K,E47K,F1451S,F1944C,F2836L,G1280E,G1363R,G1822A,G1843V,G1975S,G2115S,G2153D,G2480S,G3244S,H189Y,H2093P,H3175P,H812D,I1217M,I3114V,I495V,K1987N,L1734V,L639I,L816F,L997V,M2185L,M3339T,M709V,N1159K,N1238H,N1446S,P1066L,P1703R,P1990L,P534S,P638L,Q9P,R1198L,R1787W,R2423H,R2955C,R334H,R3452K,S1719L,S2513C,S2527Y,S2932Y,S600F,S630R,T1369S,T139S,T1873I,T20M,T2321M,T3215A,T978A,V1153I,V1203M,V1470I,V1762I,V1941A,V2372M,V359I,W1970G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5649 106 sw3932;dbsnp2079;dbsnp2080 ST5_HUMAN;NP_005409.3;NP_998783.1 "A197S,C131Y,D399E,I620T,I938T,K316N,P147A,P80R,R158G,R513Q,S657F,S774G,T153A,T364I,V1038I,V883A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6764 1593 sw3933;sws471;spmut1623;dbsnp27574 PRKDC_HUMAN;NP_008835.5 "A1237T,A1441T,A1619G,A2095V,A3431S,A6S,C2469R,D1588V,D3226N,D3244N,D3544Y,E3085D,E3352K,F2043Y,F446L,F649L,G1314V,G1319S,G1705S,G3149D,G3404E,G3936S,I1106V,I2137M,I2803V,I3434T,I680M,K2702E,L1190V,L1279F,L1532F,L1707Q,L3073F,L3200F,L3230V,L3562M,L3584F,L3800I,M333I,M3932V,N1071S,N3459S,P2110L,P3201S,P3702L,P3836L,P695S,Q1603H,Q2971R,R2598Q,R2619H,R2753Q,R2773G,R2899C,R3734G,R3872I,R4075K,R509C,S2023P,T3198S,T3599S,T3635S,T605S,V1195I,V1337I,V1479L,V2888L,V3373M,V3937M,V420I,V521L,Y1560C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5591 71 sw3934;dbsnp18452 ADA17_HUMAN;NP_003174.3 "A748V,H78D,I50V,K162E,L60I,P18L,P491S,R202G,S747L,V673I" "0,0,0,0,0,0,0,0,0,0" 6868 3065 sw3935;dbsnp29669 SRPX_HUMAN;NP_006298.1 "E144K,G75V,K116R,M395L,P225S,R142Q,R200Q,S299I,S413F,T328M,V199A,V201M" "0,0,0,0,0,0,0,0,0,0,0,0" 8406 7320 sw3936;dbsnp5905 ARGI2_HUMAN;NP_001163.1 "A146D,E345K,G240R,H16R,R132Q,R351C,R4W,T339S,V318M" "0,0,0,0,0,0,0,0,0" 384 9555 sw3937;spmut240;dbsnp14551 BTG2_HUMAN;NP_006754.1 "G4R,S147G,V153M" "0,0,0" 7832 13525 sw3938;dbsnp13338;dbsnp13339 ELF3_HUMAN;NP_004424.3;NP_001107781.1 "A87T,G162D,I90V,L121I,N104S,Q317K,R126Q,R205Q,T70A,T70M" "0,0,0,0,0,0,0,0,0,0" 1999 9181 sw3939;spmut1396;dbsnp7489 NTHL1_HUMAN;NP_002519.1 "A246T,A264T,D239Y,I176T,N98D,P125S,P58L,Q141H,R100C,R100H,R21W,R33K,S234L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4913 10607 sw393;spmut2278;dbsnp16552 UBE2C_HUMAN;NP_008950.1 "G25D,R129G,Y126F" "0,0,0" 11065 13370 sw3940;dbsnp19786 CCL20_HUMAN;NP_004582.1 "V47M,Y36H" "0,0" 6364 14711 sw3941;dbsnp6477 MAP1A_HUMAN;NP_002364.5 "A1470T,A1690S,A1752V,A1881P,A1912V,A2251V,A2613D,A335S,A353S,A357S,D1032N,D1245N,D1461N,D1482N,D2327V,D2465N,F72L,G1714V,H2214Y,I1102T,I2461T,K1605N,K1927E,K336T,K364Q,K485Q,L1621V,L2180M,N1078S,P1827A,P2349L,P2362R,Q1487P,Q1553H,R1185H,R2445C,R2472P,R290H,S1000F,S1938R,S2056R,T1277A,T2405I,T830A,T894S,V1077I,W1650C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4130 175 sw3942;dbsnp3936 CRADD_HUMAN;NP_003796.1 "E15K,E19K,E43K,G128R,I35V,L51I,R170H,R185Q,T37M" "0,0,0,1,0,0,0,0,0" 8738 12974 sw3944 DRB3_HUMAN "A169T,A212P,A87E,D57E,D57N,E38Q,F66L,F66N,F66S,F66Y,G102A,G113R,G115A,G115V,K41T,L37S,L39Y,L67A,L67V,L96F,L96I,N106T,Q178H,R103Q,R218S,R40C,R40L,R40S,R58I,R68S,R84L,S89H,S89Y,T80R,V114A,V193F,V236M,V86A,V86D,V86S,Y55F,Y55L,Y59H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3125 11408 sw3945;dbsnp24969 PRR3_HUMAN;NP_079539.2 "G61S,R87W" "0,0" 80742 13204 sw3946;dbsnp8820 CCL8_HUMAN;NP_005614.2 "A14V,C59R,E49V,H89N,K69Q,P19L" "0,0,0,0,0,0" 6355 14658 sw3947;dbsnp24477 PHLD_HUMAN;NP_001494.2 "A345T,A3P,D275E,D674N,D755A,E574K,G396S,G752R,H610R,I350V,I751T,K663T,L17V,M694V,N103S,N422S,Q57R,R101Q,R181C,R351K,R449W,S452L,S497T,S677T,T698I,V30I,V461M,W182C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2822 2956 sw3948;sws472;spmut1156 M3K9_HUMAN R497Q 0 4293 1665 sw394;sws20;dbsnp3655 ACACB_HUMAN;NP_001084.3 "A137G,A498T,A644T,A651T,D1481V,D1751H,D2409E,D2409N,E1815K,E1923Q,E2260K,E261K,E588V,G1317S,G1898R,G2305S,G255V,G624E,H1091R,I1122V,I2030V,I552V,K2148N,K234N,M2358V,M835V,N1760S,P1686R,P43L,Q1257E,Q1755R,Q45R,R1365C,R1586H,R1786Q,R1786W,R1798H,R189Q,R2046Q,R2250M,R2306Q,R2329H,R2331C,R294W,R465Q,R584C,R615W,R939S,T1553A,T2027I,T2060M,V1788M,V1996M,V2141I,V957M,V958M,Y1282C,Y2192C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 32 258 sw3950 NUCB2_HUMAN Q338E 0 4925 7388 sw3952 DLK1_HUMAN "D108G,Q73L,R101G,S260N,V104M" "0,0,0,0,0" 8788 8924 sw3954;dbsnp23399 BASP1_HUMAN;NP_006308.3 "A204G,A214V,A76V,T224N" "0,0,0,0" 10409 12386 sw3955;dbsnp24341 SIM1_HUMAN;NP_005059.2 "A371V,D431E,D707H,D707Y,H515R,I128T,L175F,P352S,P352T,S622P,T361I" "0,0,0,0,0,0,0,0,0,0,0" 6492 3467 sw3957;sws473;dbsnp13533 F189B_HUMAN;NP_006580.2 "F126Y,F97S,G527V,L488P,L534F,P253Q,R536H,R549H,R555C,R646H" "0,0,0,0,0,0,0,0,0,0" 10712 4396 sw3958;dbsnp20210 TMF1_HUMAN;NP_009045.2 "C448Y,D409G,D798H,F310I,L1041F,P103Q,Q430E,Q682R,Q8K,R688C,S239N" "0,0,0,0,0,0,0,0,0,0,0" 7110 1742 sw395;dbsnp132 ACOD_HUMAN;NP_005054.3 "A333T,C326F,M224L,P48R" "0,0,0,0" 6319 9440 sw3962;dbsnp3509 RT35_HUMAN;NP_068593.2 "A136T,A186P,A8E,A8V,G43R,L6I,T18S,T227K,Y27C" "0,0,0,0,0,0,0,0,0" 60488 10319 sw3963;dbsnp6864 RT11_HUMAN;NP_073750.2 "A135V,Q51H,R10W,S103G" "0,0,0,0" 64963 13093 sw3964;dbsnp12827;dbsnp12828 RT21_HUMAN;NP_061870.1;NP_114107.1 "L75V,Q85R,R43W,R50C,R51Q" "0,0,0,0,0" 54460 14784 sw3965;dbsnp7887 RT34_HUMAN;NP_076425.1 "E146Q,L109F,L33I" "0,0,0" 65993 12567 sw3966;dbsnp19073 RT09_HUMAN;NP_872578.1 "E264K,G336R,N82S,R245Q,S13L,S23G" "0,0,0,0,0,0" 64965 8658 sw3967;dbsnp3274 RET5_HUMAN;NP_113679.1 "D19N,E70Q,G113R,M115L,R81Q,W110R" "0,0,0,0,0,0" 83758 13043 sw3968;sws474;dbsnp6448 ATL3_HUMAN;NP_997400.2 "A1058V,A1473S,C1688R,C814Y,D126E,D189G,E893K,G713R,H146R,I1331R,I1625M,K242E,L1233F,L1382H,L1397P,L1674F,L290V,L869F,M1558T,N1516I,P582L,P705L,P705R,P821S,R1481Q,R1512Q,R1560C,R1560H,R1679H,R206W,R255Q,R59H,R618W,R787W,R855H,R864K,R981W,T1370A,T1418I,T1660I,T644M,T90A,T90P,V1366F,V432A,V661L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57188 648 sw3969;dbsnp6645 LACTB_HUMAN;NP_116246.2 "G16R,I302F,I302V,K255Q,M5L,R469K,S319C" "0,0,0,0,0,0,0" 114294 5881 sw396;dbsnp10600 DLGP1_HUMAN;NP_004737.2 "A302V,I717T,R648Q,R816Q" "0,0,0,0" 9229 2438 sw3970;dbsnp7871 COG7_HUMAN;NP_705831.1 "A136T,A29V,A325T,A618T,D93A,H381P,H381R,H393R,I284F,L425M,R313K,R573Q,R731H,T605M,V175L,V302M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91949 3442 sw3971;dbsnp28998 OX26_HUMAN;NP_937823.1 "E26Q,E80G,G89R,L68H,M1L,P102L,P47L,R132C,R135W,R57Q,R87H" "0,0,0,0,0,0,0,0,0,0,0" 347148 14147 sw3973 HPCA_HUMAN E21D 0 3208 12967 sw3974;dbsnp6380;dbsnp6381 SERF2_HUMAN;NP_001018118.1;NP_001186806.1 "D40Y,G24R,M1L" "0,0,0" 10169 13546 sw3975;sws476;dbsnp16730 ALEX_HUMAN;NP_001070958.1 "L397V,R147K,R147S,R314W,V113A" "1,0,0,0,0" 2778 1952 sw3976;dbsnp17468 RHG08_HUMAN;NP_001017526.1 "A358V,D183Y,D98H,E190K,E317K,E402Q,E406K,G255V,G290R,G333R,G422S,H177Q,I405M,L239F,N80Y,P207L,P415L,P418R,Q269H,R205Q,R257H,R330C,R335C,R339W,R350C,R350L,R361Q,R431S,R441Q,R441W,R463C,R53W,R82W,S327R,S363N,T249M,T445M,T448P,V331L,V347I,V348I,V388A,V388L,Y172C,Y346C,Y74C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23779 5774 sw3979 ENTK_HUMAN "E134Q,E641K,K77R,N660H,P732S,S545C,T65I,Y828C" "0,0,0,0,0,0,0,0" 5651 2026 sw397;dbsnp3857 SOCS2_HUMAN;NP_003868.1 "E7G,S52N" "0,0" 8835 13000 sw3980;dbsnp23083 DAB2_HUMAN;NP_001334.2 "D631N,E4K,G380R,H116Y,I430V,P335S,P725T,Q523H,R296C,S634N,T505I,T586I,T587A,V210D,V412I,V544I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1601 3443 sw3981;spmut1295 MUC5A_HUMAN L4897P 0 4586 32 sw3982;dbsnp20504 FBLN2_HUMAN;NP_001989.2 "A311T,C55W,D305V,E123K,E202Q,G1114R,G214V,H144R,I45V,L342P,N387T,N839K,P409L,R349H,S361G,T854A,V250A,V493I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2199 1334 sw3983;dbsnp17470 IDD_HUMAN;NP_005128.1 "D509Y,G135R,G442S,H427Q,R162L,R38H,R491W,R540C,R85W,S95L,T193S,V102G,V102M,V473A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9993 5840 sw3986;spmut1551 PKD1_HUMAN "A1926V,A3954P,A442P,A88V,D2604N,F4155V,F594Y,G1952D,G3139V,G3651S,G4102E,H3311R,I2646T,L1114R,L2696R,L4106P,L727P,L727R,L87M,M2760T,M2764T,M3023V,P1786L,P2674S,P36H,P4124S,P572S,P61L,P738R,Q3005E,R1995H,R2392P,R2515Q,R2746P,R2888G,R2985G,R3039C,R3750Q,R739Q,S2534G,S2569C,S2889R,S2958L,S3562N,S4190F,S99I,T1242M,T1649M,T1734K,T2422K,T2582M,T2977N,V1943I,V3057M,V3138M,V3285I,V4058A,W3603R,Y325C,Y698D" "0,1,1,0,0,1,1,0,0,1,0,0,1,0,1,0,1,1,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,1,1,1,0,0,1,1,0,0,0,1,1,0,0,1,0,0,0,0,1,1,0,1,1,1" 5310 65 sw3988;dbsnp29640 ZXDA_HUMAN;NP_009087.1 "G353D,G376S,M286V,N760D,P47L,R202G,S687N,S756N,T732A,T793A" "0,0,0,0,0,0,0,0,0,0" 7789 2844 sw3989;dbsnp29641 ZXDB_HUMAN;NP_009088.1 "A736T,D764N,N760S,Q204H,T755A,T791R,V290M" "0,0,0,0,0,0,0" 158586 2844 sw398;dbsnp18396 NCKP5_HUMAN;NP_997246.2 "C429R,D1675N,F857S,G1384V,G1800E,G1858R,H465Y,I1381S,I977T,K1553I,L1379F,L35Q,M1009V,N1093Y,P1224S,P1260Q,P776Q,R1588Q,R1807C,R250Q,R860Q,S600T,T1613M,T988S,V1403A,V236L,V604M,V937I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 344148 478 sw3991;dbsnp29729 RHG04_HUMAN;NP_001657.3 "A104V,A118E,A205T,A311V,D356N,E44K,G506E,P666L,P702L,P910L,R679Q,R889H,S824R,V225M,V772L,V871M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 393 2158 sw3993;dbsnp30330;dbsnp30331 FAM3A_HUMAN;NP_068578.2;NP_001164603.1 "A216V,I21M,R53Q,V14I,W213C" "0,0,0,0,0" 60343 12319 sw3995;dbsnp7700;dbsnp7702 ZN200_HUMAN;NP_003445.2;NP_932354.1 "D198G,H322Y,I222V,K212E,L115V,P22L,R392Q,S265Y,T140M,T41I" "0,0,0,0,0,0,0,0,0,0" 7752 8680 sw3996;spmut412;dbsnp12334 CP4F8_HUMAN;NP_009184.1 "E216Q,G45C,G93D,P447Q,R353P,R49Q,T152M,Y125F" "0,0,0,0,0,0,0,0" 11283 6107 sw39;dbsnp27991 F92A1_HUMAN;NP_660312.2 "E275G,R222Q" "0,0" 137392 11116 sw4000;dbsnp23609;dbsnp23613;dbsnp23614;dbsnp23615 2ABB_HUMAN;NP_001120853.1;NP_858061.1;NP_858060.1;NP_004567.1 "A191S,G36V,H261Y,N236S" "0,0,0,0" 5521 7525 sw4001;dbsnp30283 EM55_HUMAN;NP_002427.1 "D253E,E448Q,K68E,S13G,S210F,S214T,T16M,V228M,V61F" "0,0,0,0,0,0,0,0,0" 4354 7277 sw4003;dbsnp5 TFAM_HUMAN;NP_003192.1 "E219K,Q100E,S12T" "0,0,0" 7019 11991 sw4006;sws480 VIGLN_HUMAN "S61A,W1264L" "0,0" 3069 1236 sw4008;sws482;dbsnp8901 CDK3_HUMAN;NP_001249.1 "E73D,I124T,L138V,M264T,R214H,T226I,V154M" "0,0,0,0,0,0,0" 1018 5556 sw4014;spmut1357 NFKB2_HUMAN "A392G,E14K,G351R,G452R" "0,0,0,0" 4791 2613 sw4015;spmut1562;dbsnp6442 PLCB2_HUMAN;NP_004564.2 "E1095G,E435K,G712R,H312Q,M635I,N324I,P664L,P844R,R598H,Y48H" "0,0,0,0,0,0,0,0,0,0" 5330 1467 sw4016;dbsnp6975 DHSO_HUMAN;NP_003095.2 "A153D,A255S,A255T,A312V,D103Y,H286R,L348I,N269T,P357L,Q239L,R131Q,R91C,V282I,V322F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6652 9490 sw4017;dbsnp15435 HNRPU_HUMAN;NP_114032.2 "F712L,T292I,V633A,V633D" "0,0,0,0" 3192 3058 sw4019;dbsnp11113 PSG9_HUMAN;NP_002775.3 "A176T,A212S,E130K,G285R,H397R,I211M,I325T,K197E,K209R,L18V,L319I,L319V,L350H,L4F,N322D,N322Y,N349I,P237S,P30Q,Q309E,Q374L,Q377P,Q41L,R12C,R166H,R313Q,R313W,R315Q,R386T,S106C,S226I,S299N,S8P,T119N,T198I,T37M,V189M,V300D,V396L,Y150S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5678 7855 sw401;sws24;dbsnp16304 PTPRT_HUMAN;NP_008981.4 "A1096P,A209T,A29P,A707T,A707V,A813T,D905G,E438K,F1407L,F248S,F74S,I395V,K218T,L708P,L761V,M1237L,M76V,N1106I,N344K,N510K,Q965K,R1190W,R1324L,R1358Q,R1384H,R453C,R617Q,R771I,S536L,T1346M,T605M,V1127G,V1247M,V648G,V933L,V998A,Y1329F,Y280H,Y412F" "1,1,0,1,1,0,1,0,0,1,1,1,1,1,0,1,0,1,0,1,1,1,1,0,0,1,0,1,0,1,1,0,1,1,0,0,1,1,1" 11122 874 sw4020;dbsnp11117 PSG4_HUMAN;NP_002771.2 "A175P,A225V,A40G,G206V,G376R,I417T,I66M,K267E,L75V,P335R,P3T,Q11H,Q179L,Q373H,R12H,R12L,R220Q,R313Q,S150Y,S177R,S240P,S340L,T201A,T232N,T37M,V18L,V286A,Y392H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5672 4058 sw4021;dbsnp11137 PSG6_HUMAN;NP_002773.1 "A258T,D128N,E252Q,E347Q,E362Q,E47K,G131R,G183V,G316S,G317A,G389R,G86S,H122Y,H85D,I167T,I210T,I289T,I318L,I318T,I404S,I66S,K196E,K253N,K402M,L155F,L180W,L181M,L257S,L351S,M161T,M188R,M72I,N154S,N185S,N198S,N267D,N321D,N321Y,N386K,P148S,P236Q,P280L,Q113R,Q87K,R165L,R191S,R312Q,R344H,S143L,S143P,S364F,S405F,T300S,T324I,T385S,T73R,T99A,T99R,V100A,Y202C,Y202F,Y315F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5675 7855 sw4022;dbsnp24584;dbsnp24585 ECT2L_HUMAN;NP_001181966.1;NP_001071174.1 "A594T,E351K,E527K,F4L,G342R,M304V,Q483H,R143C,R189I,T881A,V217M,V320I,V570A,V75G,W440G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 345930 2589 sw4023;dbsnp3374 B4GN1_HUMAN;NP_001469.1 "A124D,A294T,A516V,E243G,G172R,G265R,K350E,L35V" "0,0,0,0,0,0,0,0" 2583 6089 sw4024;dbsnp28729 CAC1B_HUMAN;NP_000709.1 "A1908D,A862S,E1436K,E1500K,F76L,G165V,G1923S,L1157F,N167K,P1074L,R450C,T996A,V1509M,V2297M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 774 292 sw4025;dbsnp11122 PLIN5_HUMAN;NP_001013728.2 "A329T,A343V,A6V,C255R,P413L,R306W,V147M" "0,0,0,0,0,0,0" 440503 7342 sw4027;dbsnp18436 SPTB2_HUMAN;NP_003119.2 "A501V,D1331E,D1411H,D204E,E1023D,F694Y,K657E,N1226S,N449S,N588S,N873D,P2321S,Q1822R,R328H,T2107A,T2159M,T2320M,V2334I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6711 271 sw4028;spmut565;dbsnp16313 E2F1_HUMAN;NP_005216.1 "A102T,G200S,G393S,P346S,R252H,R323K,T311N,V276M" "0,0,0,0,0,0,0,0" 1869 7815 sw4030;dbsnp18712 SCN7A_HUMAN;NP_002967.2 "A1313V,A431D,D1657G,I407V,K735R,M600L,M958I,N1060S,N538S,R1516K,R1634H,R683Q,T41N,V1596L,V657A,Y562C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6332 661 sw4031;dbsnp24725 CD83_HUMAN;NP_004224.1 "A13D,E203Q,N86S,R182Q,R95Q,S102L" "0,0,0,0,0,0" 9308 12851 sw4032;spmut1839;dbsnp17180 RUNX1_HUMAN;NP_001001890.1 "L29S,R174Q,R206H,S431R,S433R" "0,1,0,0,0" 861 6275 sw4033;dbsnp12759 RELB_HUMAN;NP_006500.2 "C315G,M281K,T396M,V216I" "0,0,0,0" 5971 5425 sw4034;dbsnp20402;dbsnp20404 IL5RA_HUMAN;NP_783853.1;NP_000555.2 "A232G,A5V,D305N,I129V,I249T,I375T,N62Y,R59S,S359L,S397N,V262A,V67M,W322L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3568 8149 sw4036;dbsnp6947 GALK2_HUMAN;NP_002035.1 "I182V,I51V,K333N,L316M,N83S,P418H,T400S" "0,0,0,0,0,0,0" 2585 7433 sw4039;dbsnp12929 DIAC_HUMAN;NP_004379.1 "A155T,D310Y,I123L,I242F,I271T,L382P,R10L,R169H,R169S,R277Q,R277W,V274I" "0,0,0,0,0,0,0,0,0,0,0,0" 1486 8889 sw403;dbsnp4301 T194A_HUMAN;NP_001124435.1 "C330S,I154T,I217V,K75Q,P435S,R433Q" "0,0,0,0,0,0" 23306 7690 sw404 ASTN1_HUMAN G1270R 0 460 1161 sw4041 CAP1_HUMAN "C229G,C236G,C247G,I245S,S256A,Y249D" "0,0,0,0,0,0" 10487 7058 sw4042;dbsnp27781 DEF5_HUMAN;NP_066290.1 "A17S,I6V,L88I,Q40K,R2S,R62T,R71H,R75H,R75L" "0,0,0,0,0,0,0,0,0" 1670 14694 sw4043 TSPY1_HUMAN "I216F,P195R" "0,0" 728137 10687 sw4044;sws486;dbsnp3740 K22O_HUMAN;NP_056932.2 "A283T,A359T,A39G,D268G,E356K,F106L,G587S,M342L,N2S,R202W,R358H,R35C,R412W,R466H,R486C,R486H,R624C,R77W,S196F,S236F,T629M,V158L,V160I,V474I,Y576C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51350 4648 sw4045;dbsnp1692 IFM3_HUMAN;NP_066362.2 "H3Q,P70T,V31M" "0,0,0" 10410 14198 sw4046;dbsnp1333 IFM2_HUMAN;NP_006426.2 "I121L,I121V,M41T,V33A" "0,0,0,0" 10581 14198 sw4047;dbsnp18146 ILRL1_HUMAN;NP_057316.3 "A153V,A176T,A216T,A433T,A469T,A78E,A7S,A80V,E483D,G215R,I136N,I329N,I329V,L551S,M352I,N411T,N519I,P144S,P58L,Q501K,Q501R,Q507H,R396H,T180I,T549I,V249F,V249I,W251S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9173 5754 sw4048;dbsnp7407 LAT1_HUMAN;NP_003477.4 "A203T,D223V,G41D,L370V,N230K,P6L,Q501L,T286M,V378M,V396I" "0,0,0,0,0,0,0,0,0,0" 8140 6059 sw4049;dbsnp13915 NC2B_HUMAN;NP_001929.1 E171D 0 1810 13432 sw4051;dbsnp21132 CAC1D_HUMAN;NP_001122312.1 "A1285T,C493S,D2097N,E1624D,E1673K,G460S,I1121V,I805T,N1234S,P1298S,R1013Q,R1332S,R1672Q,R1793Q,R1825Q,R1979P,R1979Q,R2146K,R506H,R910H,T1998N,V1898I,V823M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 776 345 sw4056;spmut2383;dbsnp20251;hgmd0613_1246 XPC_HUMAN;NP_004619.3 "A472D,A472G,A499V,A878G,C514S,F287C,G734A,K481N,K511Q,K86R,K928Q,L16V,L48F,M513I,P334H,Q632E,Q939K,R314Q,R492H,R671H,R687S,T689M,W690S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,1" 7508 2391 sw4057;dbsnp14752 PO5F1_HUMAN;NP_002692.2 "A141V,A293P,A293S,A293T,L226F,L226I,L226V,M357L,P65L,T118I,T322A,T351I,V117I,V30I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5460 9414 sw4058;spmut2013;dbsnp11877 SPIB_HUMAN;NP_003112.2 "A104P,G21D,V127G,Y58C" "0,0,0,0" 6689 11643 sw405;dbsnp4502 CUX2_HUMAN;NP_056082.2 "A757V,E1283K,G1337D,V1472L,V27F,V27I" "0,0,0,0,0,0" 23316 850 sw4063;sws488;dbsnp14299 ROR1_HUMAN;NP_005003.2 "A349T,G624R,L690P,Q907R,R351H,R90H,S436L,T518M,V744I,Y646C" "0,0,0,0,0,0,0,0,0,0" 4919 2370 sw4065;dbsnp2526;dbsnp2527 TAGL_HUMAN;NP_001001522.1;NP_003177.2 "E19K,N182S,Q178H,V31G,V60M,V77L,Y70H" "0,0,0,0,0,0,0" 6876 12940 sw4066 AK17A_HUMAN P194S 0 8227 4118 sw4067;dbsnp21910 MYL5_HUMAN;NP_002468.1 "E170G,E172D,F88S,K171E,R15W,T86I" "0,0,0,0,0,0" 4636 12417 sw4068;spmut1212 MEF2A_HUMAN "G283D,N263S,P279L" "0,0,0" 4205 6278 sw4069;dbsnp22100 NAAA_HUMAN;NP_055250.2 "A269G,A33V,F334L,N107K,P94L,R153H,S225N,T223I,V151I" "0,0,0,0,0,0,0,0,0" 27163 9446 sw406;dbsnp18942 TXND9_HUMAN;NP_005774.2 "A5T,E2G,H139R,I214L,L14Q,M39V,Q38R" "0,0,0,0,0,0,0" 10190 12407 sw4071;dbsnp21897;dbsnp21898;dbsnp21899;dbsnp21900;dbsnp21901 GCYA3_HUMAN;NP_001124156.1;NP_001124155.1;NP_001243378.1;NP_000847.2;NP_001124154.1 "E57A,K10Q,K53E,P651R,R68Q,V25I,V633M" "0,0,0,0,0,0,0" 2982 4166 sw4073;sws490;spmut1081;dbsnp19180 KPCE_HUMAN;NP_005391.1 "A333V,A654T,P389R,R510Q,T563M" "0,0,0,0,0" 5581 3726 sw4074;sws491 RHD_HUMAN E193K 0 6007 8229 sw4075;dbsnp26151 ODO1_HUMAN;NP_002532.2 "A660V,D920N,H3Y,N1021K,N820Y,R27I,V1018I" "0,0,0,0,0,0,0" 4967 2014 sw4076;dbsnp7338 TNR17_HUMAN;NP_001183.2 "A153T,A54V,C165S,C59F,C59Y,E176D,F75L,F75V,I65V,M149R,N81S,T52M" "0,0,0,0,0,0,0,0,0,0,0,0" 608 13280 sw4077;dbsnp21850 CENPE_HUMAN;NP_001804.2 "A109G,D2694N,E1303Q,E1622Q,E1679K,E1721Q,E1925D,E2273K,E604V,F1535L,F2303I,G1425E,G1425R,H1365L,I1402V,I2191T,I2191V,I2310V,K1355E,K1480E,K1592Q,K2230I,K2430N,K32T,K638E,K834N,K871R,L2432F,L573V,M1177L,N2539D,N391Y,P69S,Q1269E,Q1608H,Q2408K,Q2443R,Q2578E,R1429S,R1597S,R1930H,R2068T,R208K,R2629Q,R303C,R967Q,S1581R,S1911T,S2325C,S851A,T1250S,T1268I,T1736A,T2090M,T2512I,T808A,T914N,Y2146C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1062 192 sw4078;dbsnp6878 KIF23_HUMAN;NP_612565.1 "F515L,I230M,N98S,P34T,Q77R,T51I,V26I,V742L,V761M,V92L,Y60H,Y73C" "0,0,0,0,0,0,0,0,0,0,0,0" 9493 2284 sw4079;dbsnp13605 CNTN2_HUMAN;NP_005067.1 "A145T,A60T,D552E,F298L,G719R,H962Q,K822Q,L169F,L437V,M75V,N659D,N662K,P366L,P469T,P607L,R235Q,R657W,S711L,T316I,T945N,V1024I,V1029M,W758C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6900 1938 sw4081;dbsnp27684 NRG1_HUMAN;NP_039258.1 M463K 0 3084 4643 sw4083;dbsnp16216 SEMG2_HUMAN;NP_002999.1 "A176V,A93T,D456A,D566V,E463K,E541K,E552Q,G368R,H279Y,H70L,I508F,K58E,N216S,N344D,Q43K,R292H,R417C,R417H,S10Y,S274N,S347L,S530P,T57A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6407 5377 sw4084;dbsnp10895 ZNF45_HUMAN;NP_003416.1 "A187T,A321T,E19K,E323K,G160R,G282R,H270P,L179F,P163R,P303R,R255K,R504K,T271M,T299A,V489A,Y276H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7596 3221 sw4086;spmut108;dbsnp29155 APBA1_HUMAN;NP_001154.2 "S184A,S414L" "0,0" 320 2984 sw4087;dbsnp10340 DSG1_HUMAN;NP_001933.2 "A581T,A706T,D406E,D538N,D572N,D707E,D772N,D828N,G1008E,G245V,G687R,G870S,G972S,G978V,I1027T,I14F,I613M,I739T,I739V,K537R,L287F,L539V,L821Q,M1015V,M11V,M665I,N493T,P187L,P496L,Q81H,R712C,S541P,S850A,S931P,T395S,T498N,V1045M,V328A,V564I,V853I,Y528S,Y841F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1828 1901 sw4088;dbsnp27119 SP4_HUMAN;NP_003103.2 "A348G,N306S,P286R,Q197K,T344N,T554A" "0,0,0,0,0,0" 6671 3321 sw4089;spmut2006;dbsnp18188 SP3_HUMAN;NP_003102.1 "A114T,A81G,N354T,N385T,R723Q,S345G,T164A,T323S,T353A" "0,0,0,0,0,0,0,0,0" 6670 3352 sw408;dbsnp11407 G3PT_HUMAN;NP_055179.1 "A93S,D110N,E152A,E37Q,M201V,R92H,S2L,V243M,Y386H" "0,0,0,0,0,0,0,0,0" 26330 8423 sw4091 MUC3A_HUMAN "A2338V,H2517N,H2517Y" "0,0,0" 4584 230 sw4092;dbsnp12901 ID3_HUMAN;NP_002158.3 "E86Q,L22P,R28Q,S111A,S49T,T105A" "0,0,0,0,0,0" 3399 14413 sw4093;spmut826;dbsnp24338 H11_HUMAN;NP_005316.1 "A68E,K140R,K36E,K37N,K67N,L65F,S115F,S12F,S42F,T152I,T99I" "0,0,0,0,0,0,0,0,0,0,0" 3024 12409 sw4096;dbsnp28683;dbsnp28684;dbsnp28685;dbsnp28686;dbsnp28687 GCNT1_HUMAN;NP_001091104.1;NP_001481.2;NP_001091103.1;NP_001091102.1;NP_001091105.1 "A119E,I152V,I169V,P368L,R87W,S158C" "0,0,0,0,0,0" 2650 7805 sw4097;dbsnp13528 GUC2A_HUMAN;NP_291031.2 "C112S,C115Y,G61S,L6P,N55K,N86K,S7F,W15R" "0,0,0,0,0,0,0,0" 2980 14470 sw4099;sws496;spmut2155 TIE2_HUMAN "P883A,Q346P,V676I" "0,0,0" 7010 1643 sw409;sws25;dbsnp26793 DC1I1_HUMAN;NP_004402.1 "K221N,K26N,L199M,N582T,Q47P,Q76E,V336I,V607I" "0,0,0,0,0,0,0,0" 1780 4634 sw4100;sws497;dbsnp12007 M3K10_HUMAN;NP_002437.2 "E619G,P168Q,P878S,T321M" "0,0,0,0" 4294 2314 sw4101;dbsnp3412 FKBP4_HUMAN;NP_002005.1 "A374G,E45A,K222R,N197K,Q333H,Q454H,R157H,T436P,T448P,V219M,V366M" "0,0,0,0,0,0,0,0,0,0,0" 2288 7412 sw4103 MUC2_HUMAN "G832S,I2154T,L58P,P1689L,P1768H,Q2653L,Q2653P,S1619R,T2524P,T2524S,V116M" "0,0,0,0,0,0,0,0,0,0,0" 4583 25 sw4104;dbsnp11872 NUCB1_HUMAN;NP_006175.2 "D101Y,E344K,E358D,L12P,M338V,P412Q,R110Q,R399Q,R87P,R87Q,V457L" "0,0,0,0,0,0,0,0,0,0,0" 4924 7388 sw4105;dbsnp1887 RASF7_HUMAN;NP_003466.1 "A275V,A302V,A323V,P304L,P313S,P319L,P89A,R156Q,R308Q,V67A" "0,0,0,0,0,0,0,0,0,0" 8045 9133 sw4107;sws500;dbsnp3280;dbsnp3281 RL6_HUMAN;NP_000961.2;NP_001019833.1 "A196V,H211Q,H227R,K139N,K221Q,K237E,L174P" "0,0,0,0,0,0,0" 6128 11139 sw4108;spmut411;dbsnp13315 CP4AB_HUMAN;NP_000769.2 "F434S,G206D,G278R,H117Y,H260R,I458M,I491M,K276T,L131F,L506F,N226S,P385L,P428L,P87A,R143Q,R250H,R250L,R254H,R348Q,R477H,R505H,R74L,R74Q,S230C,S331F,S353G,T362I,T471M,V185F,V35A,Y158C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1579 6325 sw4109;sws501;dbsnp24936 AKA12_HUMAN;NP_005091.2 "A1083V,A1182T,A1449T,A1557G,A167P,A225T,A987S,D1532E,D72N,D782A,D963N,E1355K,E1600D,E1689D,E271G,E354K,E591K,E920G,F613L,G1286R,G703V,G731V,G799C,G799S,I170T,K117E,K216Q,K875N,L1392S,L1421V,N1379K,N82K,P1183R,P218T,P239S,P254L,P619H,R1038W,R1296L,R245C,R308H,S1162L,S741R,S887C,T1016I,T105I,T1506I,T878A,V1096I,V1582M,V377A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9590 569 sw410;dbsnp4430 CTRO_HUMAN;NP_009105.1 "A1794T,A603V,A8T,A8V,E1423K,G15V,G7E,I1681V,I1933V,K1188N,K647R,L183F,L58F,M1330T,N1122S,P1251L,Q192E,Q32K,R1387H,R151Q,R48Q,R9Q,S308C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11113 392 sw4110 PAX2_HUMAN "A160T,A334V,G24E,G25V,G76S,G84S,L33R,L69P,P130H,P130S,R117P,R71T,S175T,S387N,S61I,S61N,T164N" "0,0,0,1,1,1,1,1,1,1,1,1,0,0,1,1,0" 5076 7587 sw4111;dbsnp14786 FHR3_HUMAN;NP_066303.2 "D287G,F34C,G18A,H35N,H71Y,I269V,I312F,Q240H,R142C,Y100C" "0,0,0,0,0,0,0,0,0,0" 10878 5451 sw4112;spmut562 DYST_HUMAN Q2332R 0 667 5 sw4114 CREM_HUMAN Q270R 0 1390 9383 sw4116;dbsnp26635 GNA12_HUMAN;NP_031379.2 "F242L,F350L,L140P,Y121H,Y330H" "0,0,0,0,0" 2768 8951 sw4117;dbsnp27199 CAV1_HUMAN;NP_001744.2 "I150V,P132L,V155F,V155I,Y148C" "0,1,0,0,0" 857 13394 sw4119;spmut1246;dbsnp1421 MLL1_HUMAN;NP_005924.2 "A30G,A3422V,A3489V,A3608V,A53V,E2986K,E502K,E502Q,G3513E,G909D,I3437V,I3569S,K2658N,K3666R,K609R,L3614P,L394M,L989F,M604V,N248S,P2354R,P3112S,P3430T,Q1975P,Q2387R,Q3203K,R1627Q,R2188Q,R427W,S1325N,S1337L,S2319T,S2392P,S2432C,S3773A,T2059I,T2230I,T3463A,V3714I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4297 78 sw411;dbsnp10778 COPE_HUMAN;NP_009194.2 "A235T,D105H,R85H,S13C,T117I,Y127H" "0,0,0,0,0,0" 11316 10684 sw4121;dbsnp5540 TNAP2_HUMAN;NP_006282.2 "Q282E,R479K,S448R,S58T,T481M,T565I,T580M" "0,0,0,0,0,0,0" 7127 4543 sw4124 ROM1_HUMAN "A265T,G118A,P60T,T108M" "0,0,0,0" 6094 9621 sw4125;dbsnp17052 TFF2_HUMAN;NP_005414.1 "D126N,Q7P,R3W,T40M,V66L" "0,0,0,0,0" 7032 14256 sw4126;dbsnp10724 UPAR_HUMAN;NP_002650.1 "D297A,E55G,G94E,K220R,L317P,M268V,N179S,N281K,P210L,R105Q,R159H,T86A" "0,0,0,0,0,0,0,0,0,0,0,0" 5329 10013 sw412;dbsnp11787 OR7AH_HUMAN;NP_112163.1 "A237T,A69S,G257S,G96D,I221V,I46T,M136T,N84D,R226C,R226H,S112R,V37A,Y94C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 26333 9535 sw4130;dbsnp24524;hgmd0613_461 TAP1_HUMAN;NP_000584.2 "A430V,D697E,D697G,E592K,G131A,G131V,G307R,G479C,G77R,I393V,I428T,L170V,L191P,L655V,P576L,P67S,Q321P,Q492K,Q768R,Q788K,R589C,R708Q,R719Q,S346C,S346F,S753T,T244M,T295S,T594M,V222M,V304L,V518L,V578I,Y309C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 6890 3152 sw4132;dbsnp13004 FHR1_HUMAN;NP_002104.2 "A296D,A296V,C317R,E175Q,H157Y,K165E,L159V,Q242E,T205M,V45F,Y304H" "0,0,0,0,0,0,0,0,0,0,0" 3078 1332 sw4134;dbsnp18398 CEBPZ_HUMAN;NP_005751.2 "A615V,D509N,E19D,F601I,H452R,I238V,K303R,K966Q,L253I,N218S,N639S,P15S,P627L,R790H,V102A,V102I,V671I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10153 1876 sw4135;spmut1038;dbsnp14679 KCNC4_HUMAN;NP_004969.2 "C520Y,D318Y,E278D,E569K,G333S,K541E,L481Q,R516Q,R572W,S577P,V269M,V287I" "0,0,0,0,0,0,0,0,0,0,0,0" 3749 3540 sw4136;dbsnp11702 ZNF85_HUMAN;NP_003420.2 "A378G,C204R,C431W,F270S,G184R,G59V,I251T,I586M,K293R,K60T,M185V,Q84R,R115I,R269Q,R26Q,T139I,T177R,T225M,T266A,T303N,T393A,T46A,T46I,T526N,Y314C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7639 1203 sw4137;dbsnp26384 ZN117_HUMAN;NP_056936.2 "C83Y,K112N,L208H,T188S" "0,0,0,0" 51351 1203 sw4138;dbsnp26522 ZNF92_HUMAN;NP_689839.1 "A122V,E414A,G570D,K124E,K149Q,K398N,K500T,Q492R,R178H,R178S,R477G,R527H,T467A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 168374 1203 sw4139 PRB3_HUMAN "P186Q,P53C" "0,0" 5544 8251 sw4141 GLGB_HUMAN "I334V,T265S" "0,0" 2632 4057 sw4142;sws505;spmut713;dbsnp1354 FOLH1_HUMAN;NP_004467.1 "A365T,E102Q,H475Y,K308N,L268F,N132S,N140S,P160A,R190W,R281H,S155L,S717R,V627L,Y733S,Y75H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2346 3608 sw4143;sws506;spmut943 IF4G1_HUMAN "A502V,G686C,I806V,L1233P,M432V,N1257S,P1229A,P71S,R1197W,R1205H,S1164R,T161A,T829S,Y311C" "1,1,0,0,0,0,0,0,1,1,1,0,0,0" 1981 728 sw4148 TLE3_HUMAN A229V 0 7090 3429 sw4149;dbsnp21885 HGFA_HUMAN;NP_001519.1 "A218S,E226D,E46Q,F192I,F231L,G214C,G549S,G574R,K566R,L83F,P14L,P648S,P84R,R190W,R363H,R509H,R644Q,S514L,S80R,T474M,T632S,V225M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3083 4529 sw414;dbsnp11128 NCAN_HUMAN;NP_004377.2 "A1039T,A1254V,A595T,A693T,A70T,A836V,E588Q,L18F,P1274S,P816S,P92S,R1119H,R1119L,R1194C,R214H,R214L,S838N,T666M,V548L,Y678S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1463 1126 sw4150;sws508;spmut1083;dbsnp306 KPCT_HUMAN;NP_006248.1 "D306V,D354N,I214V,L304S,L9F,P27L,P330L,R600Q,S479C,V157I" "0,0,0,0,0,0,0,0,0,0" 5588 4026 sw4153 1B40_HUMAN "Q204E,V127L,W171L" "0,0,0" 3106 7735 sw4154;spmut73;dbsnp1128 AK1C1_HUMAN;NP_001344.2 "I49T,K39R,L40W,L54F,L54V,M1I,N280K,Q172L,R170C,R170H,S221T,S221Y,V122I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1645 10233 sw4156 RON_HUMAN "G356D,P95T,R1304G,R185C,S1195G,Y1360C" "0,0,0,0,0,0" 4486 982 sw4157;dbsnp30068 PLP2_HUMAN;NP_002659.1 "A148S,A91S,R6C,T122M,T145N" "0,0,0,0,0" 5355 13878 sw4159;dbsnp6473 UBE3A_HUMAN;NP_000453.2 R62H 0 7337 2736 sw415;dbsnp9351;dbsnp9352;dbsnp9353;dbsnp9354 GBGT2_HUMAN;NP_001185685.1;NP_113686.1;NP_001185683.1;NP_001185684.1 "L11F,Q17R" "0,0" 2793 14857 sw4160;spmut557;dbsnp29281 DYN1_HUMAN;NP_004399.2 "D744N,F258L,I242T,L16M,N529S,P861H" "0,0,0,0,0,0" 1759 2769 sw4161;dbsnp26034 PTN12_HUMAN;NP_002826.3 "E706K,I471V,K61R,T573A,V14I,V262L,V322I" "0,0,1,0,0,0,0" 5782 3358 sw4162;dbsnp10804 LPPL_HUMAN;NP_001819.2 "A28V,M81L,N65K,R61C,S92G" "0,0,0,0,0" 1178 14048 sw4165;sws511;dbsnp11552 LIPS_HUMAN;NP_005348.2 "A194V,A94T,D519N,F575I,G340S,G742R,K497N,N499H,P146S,P190T,P369L,P963R,P99S,Q127H,R217L,R217Q,R333Q,R392H,R404C,R56K,R611C,R810Q,R852H,R938S,S177T,T405P,V1014M,V745L,Y100H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3991 1794 sw4166;dbsnp10844 ZNF91_HUMAN;NP_003421.2 "A386T,E1103K,E521K,F182L,F455I,H89D,I86V,L1164P,L1164V,P881L,R1011I,R1033Q,T282S,T32I,T336A,T694S,T896A,Y112H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7644 1203 sw4167;sws512;spmut1084;dbsnp15005 KPCZ_HUMAN;NP_002735.3 "A516T,D203N,E576K,R171H,R49H,R504Q,R84H,Y126D" "0,0,0,0,0,0,0,0" 5590 5180 sw4169;dbsnp28763;hgmd0613_1592 NMDZ1_HUMAN;NP_015566.1 "E662K,G445A,I540M,V204M" "1,0,0,0" 2902 2375 sw416;dbsnp2114 BORG1_HUMAN;NP_006770.1 "G47S,I191F,N176S,P159S,R22W,V185M" "0,0,0,0,0,0" 10435 12740 sw4170;spmut1080;dbsnp20325;dbsnp20326;hgmd0613_1479 KPCD_HUMAN;NP_006245.2;NP_997704.1 "A405T,C415Y,E317K,E373D,F375S,L410F,M494V,N348S,R300Q,R483W,R569C,V593M,V72L,Y334C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5580 4308 sw4171;dbsnp26470 CALD1_HUMAN;NP_149129.2 "A293P,A324E,D122N,E283K,E326K,E369Q,E385K,E77K,H397R,H501N,I671V,K287Q,K346R,K475R,M257I,M317I,P764L,R136K,R159K,S171F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 800 3265 sw4172;dbsnp27545;hgmd0613_1984 COEA1_HUMAN;NP_066933.1 "A1126V,A1197T,A1385T,D189G,E1345K,G744S,I1373T,I952T,L1627F,L713F,M1235I,M413I,N1257S,N563H,N924S,P1659A,P855L,Q1613E,Q627P,R1546H,R844W,S458N,T1583A,T586A,T636A,T813M,V1189I,V1342L,V150L,V922I,Y629C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7373 564 sw4174;dbsnp27968 ACHB3_HUMAN;NP_000740.1 "A147T,D191N,H329Y,H405Q,K451E,L60S,L60W,R45C,T158R,V368M,Y225C" "0,0,0,0,0,0,0,0,0,0,0" 1142 7236 sw4175;dbsnp28921 FOLC_HUMAN;NP_004948.4 "A489V,F13L,I22V,R466C,R85W,S499F,S528T,V437D" "0,0,0,0,0,0,0,0" 2356 5308 sw4176;dbsnp7915 STP2_HUMAN;NP_005416.1 "Q39H,R101C,R131W" "0,0,0" 7142 14118 sw4177;dbsnp7506 ZP2_HUMAN;NP_003451.1 "A716T,F448I,F493I,G36V,H74Q,I154V,P553L,V530I,V563M,W73L" "0,0,0,0,0,0,0,0,0,0" 7783 3658 sw4179 LRC63_HUMAN "K281R,M137V,M206V,T282A" "0,0,0,0" 220416 5405 sw417;dbsnp10807 AP3D1_HUMAN;NP_003929.4 "G541R,I1072V,K850N" "0,0,0" 8943 1544 sw4180;dbsnp6434 CTSL2_HUMAN;NP_057480.2 "A244V,N430S" "0,0" 51496 7278 sw4181;dbsnp1892 CCD67_HUMAN;NP_857596.2 "C513R,E440G,E440K,E440Q,L159I,L159V,M520T,Q504K,S175F" "0,0,0,0,0,0,0,0,0" 159989 5090 sw4182;dbsnp19898 ITIH3_HUMAN;NP_002208.3 "A858V,G523R,K49E,M439V,M477I,M757I,P640L,Q315K,R377Q,R825Q,S216Y,T340M,T751A,V684I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3699 2549 sw4183 AT5G2_HUMAN "M141K,S58I" "0,0" 517 13012 sw4186;dbsnp20674 P2R3A_HUMAN;NP_002709.2 "A171S,C239W,D67G,D67N,D745N,E241K,E381K,F1125S,F322S,G78R,I249V,I564V,K290E,L1097H,L160S,L193V,L377V,M1011I,M1011V,M231I,M71V,N108S,N313K,N405H,P370R,P437L,P481A,P695L,R1007Q,R23C,R347L,R347Q,R588Q,R711Q,S1084L,S260R,S642G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5523 1555 sw4187;dbsnp19756 GFPT1_HUMAN;NP_001231639.1 "D366Y,D43V,I121T,M509T,M510T,M79T,R111C,R403H,R452H,R514W,R530W,T15A,T15M,V199F" "1,1,1,1,1,0,1,1,1,1,1,1,1,1" 2673 4080 sw4189;dbsnp21802 EXOS9_HUMAN;NP_005024.2 "I288V,I366V,K257E,L14P,R161Q,S425T" "0,0,0,0,0,0" 5393 7477 sw419 CXL11_HUMAN N55S 0 6373 14724 sw4190;dbsnp18647 ADO_HUMAN;NP_001150.3 "A1083G,A493G,A659T,A878S,E1160K,E933K,H1297R,I598N,K854R,L523F,M225R,N1135S,Q314R,R388Q,R429Q,R802C,S1271L,S531T,T1246M,Y1164C,Y1215H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 316 1089 sw4191;dbsnp5420 PSME1_HUMAN;NP_006254.1 "D85E,I212F,L231M,L231V,N50S,R198W,S55N,T244K" "0,0,0,0,0,0,0,0" 5720 11918 sw4192;dbsnp21818;hgmd0613_1356 SUH_HUMAN;NP_005340.2 "A456V,A484T,D334H,I408V,K291E,M296K,P425S,Q420R,R419Q,T197R,T489S" "0,0,0,0,0,0,0,0,0,0,0" 3516 6659 sw4193;dbsnp27741 P5F1B_HUMAN;NP_001153014.1 "E238Q,G176A,G176E,G176V,G267E,K182M,K182R,K182T,L33R,L69F,N214D,N214H,N214Y,P119T,P313L,P339A,Q228H,R157M,S335P,V117I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5462 9414 sw4194;spmut2256;dbsnp6454 TYRO3_HUMAN;NP_006284.2 "A815V,A831T,C690R,E343K,E489K,G251S,G353S,G542S,G675R,G68R,G842D,I346N,L819M,P21L,P277L,P314L,R416C,R487K,R750C,R824G,T178M,V545G,V669L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7301 2661 sw4196;dbsnp8856 CCG1_HUMAN;NP_000718.1 "E213A,E221K,G130R,G196S,I72V,R164S,R206P,V125I" "0,0,0,0,0,0,0,0" 786 12490 sw4197;dbsnp1614 APLP2_HUMAN;NP_001633.1 "D632N,E222D,E223K,E226D,E351Q,E594Q,E86V,G191R,G341S,H534Q,I208T,Q205R,Q428L,R488H,R498H,R569C,T614A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 334 3493 sw4199;dbsnp11917 ST2A1_HUMAN;NP_003158.2 "A261T,A63P,K227E,L50V,N230I,P208S,W152G" "0,0,0,0,0,0,0" 6822 11185 sw41;dbsnp25051 ZC12D_HUMAN;NP_997243.2 "E51K,L411F,P325Q,P53L,P74L,R491C,V193I" "0,0,0,0,0,0,0" 340152 6175 sw4200;dbsnp17028;dbsnp17029 GABPA_HUMAN;NP_002031.2;NP_001184226.1 "A291V,E345K,M259I,T450M" "0,0,0,0" 2551 7502 sw4202;dbsnp24714 TNFC_HUMAN;NP_002332.1 "A111P,A122D,A122V,G70E,L83V,L87F,Q212R,S84R" "0,0,0,0,0,0,0,0" 4050 12031 sw4203;dbsnp18628;pmd901.2;pmd902.2;pmd4094.2;hgmd0613_1068 PAX8_HUMAN;NP_003457.1 "A189T,C57Y,F329L,L62R,Q40P,R31H" "0,1,0,1,1,1" 7849 7587 sw4204;dbsnp55 ZN33A_HUMAN;NP_008905.1 "C498Y,C613F,D804H,E239D,E69K,G614R,H208Q,H327Y,I156V,I728T,K115E,K634N,N723I,N723T,P124L,P268L,Q140H,Q413R,Q549E,Q619R,Q785R,R93W,T708I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7581 3138 sw4205;dbsnp41 ZN33B_HUMAN;NP_008886.1 "A714V,D216E,E184G,E473D,H343L,H356R,K137I,K374E,L522V,L682F,N250Y,N696S,Q208P,R145C,R461T,S132Y,T576M,V298M,Y749C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7582 3138 sw420;dbsnp20508 GP171_HUMAN;NP_037440.3 "A38V,F191L,I283V" "0,0,0" 29909 10409 sw4211;sws517;dbsnp14344 TNR9_HUMAN;NP_001552.2 "A169V,A176D,A56T,K115N,P167L,Q108E" "0,0,0,0,0,0" 3604 11800 sw4212;dbsnp3829 CKAP4_HUMAN;NP_006816.2 "A348P,A348T,E238G,G579D,K206Q,L352V,L580V,R378C,R394K,S179P,S179T,S382A,T242M,T555A,V416M,Y483C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10970 5110 sw4213;sws518;dbsnp21823 AMPE_HUMAN;NP_001968.3 "A20T,A526P,E172Q,F951S,I32V,L144V,Q213R,R159S,R437H,R437S,R788L,R788Q,R925G,S861R,V218A,Y544F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2028 2295 sw4214;dbsnp13577 COGA1_HUMAN;NP_001847.3 "A840S,G745S,G874R,I1443V,K398R,M1466R,P1026L,P1158S,P866S,P909L,Q27H,R418Q,T62K" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1307 730 sw4215;spmut2410;dbsnp6563 ZO1_HUMAN;NP_003248.3 "D1347A,H1110R,I790V,N1549S,N1605S,N471S,P930L,R1083C,R118H" "0,0,0,0,0,0,0,0,0" 7082 589 sw4216;sws519;dbsnp13326 TRHY_HUMAN;NP_009044.2 "A686G,D1255E,E1144K,E1357G,E1625Q,E493Q,E494Q,E650K,E98K,F238L,K1902Q,L1258V,L549R,L63R,L790M,P1158R,Q1535E,R1251P,R1251W,R1312K,R1354L,R1354P,R1368L,R1444P,R1529W,R1541H,R1894T,R552S,R783M,V237L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7062 455 sw4218;dbsnp3553 NKG2E_HUMAN;NP_002252.2 "A106T,C155S,H113P,R112L,R135S,S167N,S2N,W19P,W19R,W19S" "0,0,0,0,0,0,0,0,0,0" 3823 11767 sw4219;dbsnp13198 DERM_HUMAN;NP_001928.2 "E121K,G85R,L3P,P140L,R138K,R138S,S69P,S69T,S83I,V201I,V39M" "0,0,0,0,0,0,0,0,0,0,0" 1805 12941 sw421;dbsnp13967 LCE2B_HUMAN;NP_055172.1 "C72S,G54S,I51S,P22A,P25L,P25S,R83Q,S59I" "0,0,0,0,0,0,0,0" 26239 14422 sw4220;dbsnp27329;dbsnp27330 SPAG1_HUMAN;NP_757367.1;NP_003105.2 "A69T,A815D,D903N,E331K,G133D,G199A,H827Y,K755N,L138P,M521T,M529T,M777I,M777T,M839L,R211H,R293W,S905L,Y531H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6674 2454 sw4222;spmut201;dbsnp12199 BAX_HUMAN;NP_620116.1 "G108V,G11E,G39R,G39V,G67R,M38I" "1,1,0,0,1,0" 581 12577 sw4223;spmut1197;dbsnp14502 MCL1_HUMAN;NP_068779.1 "A227V,E173D,L144P,M120V,M231L,V299L" "0,0,0,0,0,0" 4170 9653 sw4225;dbsnp3963;hgmd0613_1478 DPOE1_HUMAN;NP_006222.2 "A1420V,A1712V,A186V,A2040V,A252V,A31S,A678V,A724V,C1935Y,D287E,E1240K,E1399Q,E1577A,E2140K,F695I,F837S,G2256R,I2255F,K1550R,K1857R,K355R,L2274V,N1396S,N1921K,N336S,P1207L,P282S,P697R,P697S,P99L,R1111L,R1284Q,R1294H,R1382C,R1382H,R1508H,R1839C,R1879H,R2017C,R2159C,R2165H,R259H,R260Q,R266L,R446Q,R47W,R685W,R712H,S1116G,S1353G,S1391C,S549P,T2273S,V1016M,V1512I,V1887M,Y1395C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5426 306 sw4228;dbsnp5821 SOS2_HUMAN;NP_008870.2 "A208T,D773H,E507D,H508Y,L183F,L672I,L789S,N1257D,P1205L,P1318S,P191R,S1097P,S483N,T1084A,W1248C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6655 1101 sw4229;sws520;spmut40;dbsnp20527 ACK1_HUMAN;NP_005772.3 "D526V,F1016L,K71R,P507S,P674S,P725L,P802L,P887H,R1038H,R247H,R505Q,R538W,R748Q,R877H,R99W,S102L,S522I,S699G,S985N,T152M,T829N,V890M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10188 1767 sw422;dbsnp25076 ENPP3_HUMAN;NP_005012.2 "D346Y,E400K,E516Q,F721L,G44R,I23R,K473R,K723E,L29P,M287V,M35I,N744H,P153L,P402L,P511T,P775A,R392K,R407Q,R840C,S111R,S583G,S786N,T106N,T301I,V620M,V858I,Y548C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5169 2463 sw4230;sws521;spmut1135;dbsnp3602 LRP1_HUMAN;NP_002323.2 "A1564T,A217V,A3634T,A775P,D2039N,D2080N,D2632E,D3219N,D4301N,D4491H,E4536G,G1215E,G2546S,G2962S,G3015S,G3725E,G3832A,G4297S,G4379S,I3945F,N166D,N1978K,N2472S,Q1859H,Q2900P,R1070Q,R1625H,R1993W,R2150Q,R2613Q,R2864H,R2995H,R3328C,R3947Q,R4111H,R46Q,R770W,S3977L,T2041M,T2114A,T227M,T2308M,T4077R,T780I,V1959L,V1959M,V2015I,V2059L,V2449M,V2788I,V2836A,V3909I,V772I,Y4054F,Y754F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4035 47 sw4231;dbsnp2493 RHG01_HUMAN;NP_004299.1 "E194K,L263F,R369C,R369H,S196R" "0,0,0,0,0" 392 5774 sw4232;dbsnp16378;hgmd0613_493 CP24A_HUMAN;NP_000773.2 "A332T,A510V,C303S,C380Y,D202H,E206K,E322K,K178R,L148P,L409S,M245I,M374T,P25A,R157Q,R157W,R159Q,R344H,R367Q,R396W,R439H,R481C,T248R,V158A,V457I" "0,0,0,0,0,0,1,0,1,1,0,0,0,0,0,1,0,0,1,0,0,0,0,0" 1591 6402 sw4233 ACTN3_HUMAN "C628R,Q776R,R523Q" "0,0,0" 89 2368 sw4235;dbsnp12030 AES_HUMAN;NP_001121.2 "A168E,A168S" "0,0" 166 3429 sw4236;dbsnp13233 SRSF4_HUMAN;NP_005617.2 "E253D,G338A,G356S,H260R,Q438E,R289W,R367C,R371C" "0,0,0,0,0,0,0,0" 6429 6757 sw4238;dbsnp16059 TGM3_HUMAN;NP_003236.3 "A106T,A468V,A673V,D622G,E583D,G161S,G650E,G654R,H417D,I163L,K562R,L687M,L687V,N78S,R269L,R269Q,R656W,R665Q,R665W,S249N,T13K,V216I,Y442F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7053 4023 sw423;dbsnp314 ABLM1_HUMAN;NP_002304.3 "R54C,R73H,V78I" "0,0,0" 3983 3377 sw4240;dbsnp14087;dbsnp14088 QOR_HUMAN;NP_001880.2;NP_001123514.1 "E183K,E310K,F123L,I176V,P66S,Q280R,R55H,S264L" "0,0,0,0,0,0,0,0" 1429 10160 sw4241;sws523;dbsnp930 CACB2_HUMAN;NP_963890.2 R70H 0 783 4481 sw4242;dbsnp16977;hgmd0613_466 I10R2_HUMAN;NP_000619.3 "A243S,E25K,K47E,P318L,V148M" "0,0,0,0,0" 3588 10264 sw4244;spmut1853;dbsnp28080;dbsnp28081;dbsnp28082;hgmd0613_1535 S20A2_HUMAN;NP_006740.1;NP_001244109.1;NP_001244110.1 "A400T,A480T,E575K,G304S,G498R,M645K,N178S,R181Q,R254Q,S601L,S601W,T527M,T532I,T595M,V185L" "0,0,1,0,1,0,0,0,0,1,1,0,0,1,0" 6575 4276 sw4245;spmut785;dbsnp3749 GOGA3_HUMAN;NP_005886.2 "A1211V,A26V,A370V,A499V,A563V,D1238N,D295N,E1182K,E1236K,E1388K,G1478S,G70E,H826Y,K1185R,K1187N,K1221E,K1316N,L1047V,L1318V,M888I,N380S,P264L,P58L,P79Q,Q1312H,Q576R,R1243Q,R1375H,R797S,R895W,S1190N,S1354L,S333W,S569L,S81C,S81P,T627A,V1328I,V1420M,V890A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2802 830 sw4246;dbsnp28658 GOGA2_HUMAN;NP_004477.3 "A101V,A775V,C934S,E704D,E710D,K546R,L549V,L78P,M429V,N957D,P973A,P973S,Q79E,R665C,R686W,R755H,R762S,R902G,R955H,S607R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2801 2098 sw4247;dbsnp6458 LOXL1_HUMAN;NP_005567.2 "A160P,G153D,I542V,P333R,R141L,S159A,S161L,T166S,T567A" "0,0,0,0,0,0,0,0,0" 4016 5497 sw4248;dbsnp20129 ECHP_HUMAN;NP_001957.2 "A274T,A294V,A325G,A336T,G101E,G355S,H8Y,I203S,I41R,I41V,I646M,I689T,K338R,K598T,K605R,L129I,L255V,L365V,L715S,N706I,Q685K,R424C,R483Q,R556G,R602Q,R602W,R64H,R684G,S328L,S703F,S721G,T283A,T335A,T606P,T75I,V303A,V303I,V40G,V472I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1962 3849 sw4250;dbsnp23674 ADCY2_HUMAN;NP_065433.2 "A438T,M698L,M968V,S681C,T180A,T711A,V1049I,V146M,V147L,V163I,V981I" "0,0,0,0,0,0,0,0,0,0,0" 108 1747 sw4251;dbsnp11225 CP4F3_HUMAN;NP_000887.2 "A269D,A476E,C89Y,F266L,F461L,F84L,H96Q,I271T,I67N,M191V,N449I,P54L,R148C,R188H,R255L,R257H,R274W,R47H,V118I,V118L,V270I,V398I,Y106C,Y163C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4051 6107 sw4252;dbsnp11328 PDE4C_HUMAN;NP_000914.2 "D144N,D654H,H460Y,L694P,N384S,P308A,R105Q,R289Q,R344Q,R344W,S131L,Y128C" "0,0,0,0,0,0,0,0,0,0,0,0" 5143 2686 sw4253;spmut1493;hgmd0613_667 PDE4D_HUMAN "F226S,P225T,S190A,T587P" "1,1,1,1" 5144 2686 sw4254;dbsnp10335 DSC1_HUMAN;NP_077739.1 "A209E,C848F,E672G,G740R,I200T,K130R,K476R,L827P,M322I,M659R,M659T,N521T,P38L,P451S,S93F,T746M,T817M,V109A,V460I,V702I,Y318H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1823 2609 sw4256;dbsnp27583 SG11B_HUMAN;NP_057596.1 "A79P,D89G,G37R,H73P,P93S,R60W,R77Q,R85K,V88M" "0,0,0,0,0,0,0,0,0" 10407 14207 sw4257;dbsnp9474 CLM6_HUMAN;NP_006669.1 "D167G,R10W,R118Q,T71I,V163M" "0,0,0,0,0" 10871 10889 sw4258;dbsnp21701 PPID_HUMAN;NP_005029.1 "D196V,G335E,L302I,R114W,R49C,V177I" "0,0,0,0,0,0" 5481 9192 sw425;dbsnp23580 CHD1_HUMAN;NP_001261.2 "A1334T,E669V,H1561Y,I1345V,N1122S,P264S,P264T,R1560P,R1560Q,R1638W,T1650M,V1521A,V96I,Y774F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1105 540 sw4260;dbsnp27361;dbsnp27362;dbsnp27363;dbsnp27364 FGL1_HUMAN;NP_963847.1;NP_671736.2;NP_963846.1;NP_004458.3 "E250K,F5I,G119A,G90R,G90W,H151Q,H289Y,I72V,M114V,P105L,P221R,Q53R,R34T,R38L,R43Q,R43W,T121S,T12P,T15I,W256L,Y111H,Y140F,Y293C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2267 10608 sw4262;spmut2037;dbsnp1551 SSRP1_HUMAN;NP_003137.1 "E458Q,I201V,I584V,L225V,N545S,P127S,R27H" "0,0,0,0,0,0,0" 6749 3980 sw4263;dbsnp8008 RBL2_HUMAN;NP_005602.3 "A527V,A94S,E575Q,I459V,I572V,I868M,K501T,R829S,S929R,Y210C" "0,0,0,0,0,0,0,0,0,0" 5934 1589 sw4264;sws526 CAMP2_HUMAN "P958L,R1028P" "0,0" 23271 845 sw4265 SPIR1_HUMAN Q249P 0 56907 3555 sw4266;dbsnp9015 SLFN5_HUMAN;NP_659412.3 "A304V,A774V,A797V,C495R,D32E,D460E,E641D,K59R,M1I,N447S,P698A,P787L,R34H,R655G,T145M,V277I,V754L,W313R,Y472C,Y703H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162394 2611 sw4267;dbsnp11180 ZN844_HUMAN;NP_001129973.1 "A308P,C230R,D492N,E305G,G109R,H294Y,I211M,I642M,K167R,K226E,K356E,M584L,M604I,N266S,P406A,R146H,R353G,R362K,S322G,S347F,T276A,T498K,T632K,V113M,V329A,V658I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284391 4407 sw4268;dbsnp4978 MZT1_HUMAN;NP_001065243.1 "S5G,T37I" "0,0" 440145 14814 sw4269;dbsnp7802 ACSM1_HUMAN;NP_443188.2 "A176P,D268E,D397N,G434S,H238Y,H240Y,H313N,I272M,I479V,I515T,I564T,K258R,K62Q,M221L,N449S,R193P,R200Q,R566Q,R97H,T278S,V101I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116285 5321 sw426;dbsnp6979 CHD2_HUMAN;NP_001262.3 "A1134T,G1574A,H1684Q,K203R,L271M,N364S,P1603S,Q256H,R1588W,S1407T" "0,0,0,0,0,0,0,0,0,0" 1106 540 sw4270 ACS2A_HUMAN "A561T,S513L,T336A,V335L,V337G" "0,0,0,0,0" 123876 5321 sw4271;dbsnp18749 S38AB_HUMAN;NP_001186077.1 "A194T,A4T,D239V,F47S,L254W,M345V,R116Q,S104P,V295L" "0,0,0,0,0,0,0,0,0" 151258 8459 sw4272;dbsnp18740 CB054_HUMAN;NP_001078906.1 "A170T,I388V,L309P,R180S,R382C,V42M" "0,0,0,0,0,0" 79919 7640 sw4273;dbsnp11607 ZN616_HUMAN;NP_848618.2 "C414Y,C52S,D81A,H451R,I514V,I765V,K603R,K752R,N621S,N64S,P50S,Q344K,R147H,R336Q,R485I,R507C,R512W,R513I,R540Q,R645C,R645H,R649K,R672W,R757C,T3I,T3S,Y80C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90317 2403 sw4274;dbsnp11239 ZN543_HUMAN;NP_998763.2 "A112P,A112T,A520T,C201G,E287V,G559R,L246H,L522R,L98F,M573V,P226A,P282L,P310L,P55A,Q107R,R143W,R193C,T230A,T495M,V439D,Y423C,Y507C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 125919 4825 sw4275;spmut1393;dbsnp23327;hgmd0613_1842 NSUN2_HUMAN;NP_060225.4 "C758R,D731E,G255S,H177Y,K46R,N730D,P39L,P760Q,P760R,R305C,R767Q,V426G,V627I,V715I,V715L,V732M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54888 3458 sw4276;sws527;spmut517;dbsnp10923 DMPK_HUMAN;NP_004400.4 "D69N,L423V,L527R,P337R,R493C,S298C,T225M,T544M,V192M,Y151C" "0,0,0,0,0,0,0,0,0,0" 1760 4710 sw427;dbsnp8600;hgmd0613_1178 GOSR2_HUMAN;NP_004278.2 "E14K,E183K,G144W,L130F,P3T,R50C,R67K,T108P" "0,0,1,0,0,0,0,0" 9570 12681 sw4280;spmut604;dbsnp17283 EP300_HUMAN;NP_001420.2 "A2165V,A922V,E1013G,G164R,G211S,G663V,I997V,L1600V,L827P,M2130I,M247V,M289V,N251S,P1222H,P1986L,P2221Q,P886S,P925T,Q2223P,Q2306R,S106G,S1650Y,S1716T,S507G,S697R,S919N,T1890S,T2174S,V1271I" "0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0" 2033 261 sw4281;dbsnp1407 AHNK_HUMAN;NP_001611.1 "A1650T,A2114T,A2624D,A3200V,A3742G,A4032P,A5326V,C2806Y,D1340G,D1377G,D1785G,D2038E,D2164V,D2785H,D3133N,D3312E,D4102H,D4102N,D4304G,D4631G,D4642E,D4997V,D5419N,D862E,E1964K,E2176D,E3245K,E5254D,F2300L,F885I,G1015E,G1083E,G1631S,G1669E,G1766V,G2339E,G2434D,G2527D,G2655V,G2658V,G3331V,G3501R,G393E,G4273S,G4284V,G4561D,G467R,G5242R,G5282V,G5336C,G5496E,G5592S,G766D,G803R,G914V,G962V,H2040Q,H241R,H4587Y,I1548M,I3435T,I3868V,I4165V,I4613V,I5483T,K1208R,K1438N,K1481R,K1666R,K1763R,K2019N,K2247T,K2493E,K2691R,K2920M,K2952R,K313T,K4038R,K4041R,K433R,K4633R,K537Q,K5765T,K712R,K730E,K879R,K935R,L1278V,L2970W,L3226F,L3907V,L4286F,L4414V,L5561S,L5561V,L875P,M1352L,M1392I,M1532I,M1572V,M1857I,M2776I,M3212T,M3221V,M3477R,M4449K,M4461V,M4611V,M4711L,M483R,M820I,M880L,M887V,M939L,N2192H,N3587S,N3637S,P1090S,P1260L,P1497R,P2129S,P2237T,P2439L,P2521R,P3555T,P3905H,P3943A,P4024R,P4033S,P4033T,P411L,P4189S,P4798S,P4928A,P4935L,P5234L,P5260L,P5390T,P5409S,P5416L,P5450S,Q1814L,Q3003K,Q3142R,R1063K,R1272P,R320H,R3351H,R606G,S1445N,S212L,S3326N,S3724P,S4516N,S5214R,S5807F,T1576M,T476A,T4999I,T5415A,T5796M,T635M,T81M,V1098F,V1274A,V1373D,V1476A,V1826L,V1956L,V2086A,V2131I,V2137L,V289I,V2977M,V3125L,V3190I,V3795A,V4210L,V5075M,V5440M,V5682F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79026 12 sw4283;dbsnp18105 R51A2_HUMAN;NP_001092688.1 "C533Y,E605K,E683G,G1037D,N599S,Q490H,R1121Q,R976H,S760I,T488I,T531I,V876L" "0,0,0,0,0,0,0,0,0,0,0,0" 729475 1527 sw4284 ZN763_HUMAN Y327H 0 284390 3684 sw4286 EGFEM_HUMAN "G59D,P157L" "0,0" - 13074 sw4288;spmut685;dbsnp22990 FCHO2_HUMAN;NP_620137.2 "A125S,A516V,M371V,S448P,V247A" "0,0,0,0,0" 115548 3144 sw4289;dbsnp9304 ARL16_HUMAN;NP_001035114.1 "E173G,S10R,V40A,V65A" "0,0,0,0" 339231 13030 sw428;sws28;spmut991;dbsnp29708 IRS4_HUMAN;NP_003595.1 "A1009S,A1158T,D1230Y,G579V,G589V,G644S,G662E,H879D,L34F,N508K,P636L,R1044P,R1220L,R411Q,R444G,R444W,V400I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8471 1260 sw4290 CB080_HUMAN "C130R,R82H,S152G" "0,0,0" 389073 13120 sw4291;dbsnp8572 CQ074_HUMAN;NP_783861.3 "D312N,N114S,Q376R,R333W,R489K,S108A,S327L,V43M" "0,0,0,0,0,0,0,0" 201243 6635 sw4292;dbsnp2157 CCD15_HUMAN;NP_079280.2 "A680V,C813R,E37K,G529D,P488H,Q870R,R770H" "0,0,0,0,0,0,0" 80071 2330 sw4293;dbsnp11297 SYCN_HUMAN;NP_001073937.1 L111M 0 342898 14180 sw4294;dbsnp20716 LMOD3_HUMAN;NP_938012.2 "A560V,E148D,G163S,G293D,G429E,I263T,K219M,K438M,L85M,M84I,N139S,P382S,P552H,Q397R,Q409R,R83H,T169M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56203 5680 sw4299;dbsnp18787 SCRN3_HUMAN;NP_078859.2 "C54G,D18N,K136Q,L321I,N417K,S290C,S325I,V179A" "0,0,0,0,0,0,0,0" 79634 7885 sw42;dbsnp28836 FRMD3_HUMAN;NP_777598.3 "D485Y,I173F,I173V,R520W,S509L" "0,0,0,0,0" 257019 5169 sw4300;dbsnp6493;dbsnp6494 CGNL1_HUMAN;NP_001239264.1;NP_116255.2 "A1156T,A596T,A818V,A862V,D1295G,D344G,D712N,E478V,E545V,E840D,G396V,H322D,I1120V,I1134T,I114V,I466V,K1119R,K661R,L1101M,L1101V,L309S,L366F,L848F,M1017V,M1270V,M691T,N90S,P208L,Q507H,R1015C,R369G,R369K,R420P,R884S,S439N,S459F,T380P,T511A,T568A,V1215G,V1298I,V440L,Y15N,Y403H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84952 1163 sw4301;dbsnp8578 FP100_HUMAN;NP_079437.5 "A223S,A264V,A694P,A741G,C560Y,D121N,D137G,E457K,G575S,G670S,P660L,P666T,Q478R,Q818H,R165Q,R373Q,R373W,R412G,R428H,R577Q,R664W,S106G,S511R,S558L,S617L,T376I,T817A,T853M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80233 2708 sw4304;dbsnp11848;dbsnp11849;dbsnp11850 ZN816_HUMAN;NP_001189386.1;NP_001189385.1;NP_001026835.1 "A147S,C287Y,C539Y,C542F,E422K,E442Q,E590Q,F322S,G185S,H125R,H500D,H639R,I80N,I98T,K236R,K258N,K264R,K314R,K376T,L440V,L524V,R23C,R304H,R329G,R408H,S162L,S162W,S214C,S382L,S383F,T89M,V405I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 125893 2403 sw4308;dbsnp13709;hgmd0613_1211 GALT2_HUMAN;NP_004472.1 "D314A,N60S,Q216H,R132W,R245H,R502Q,V534M,V554M" "1,0,1,0,0,0,0,0" 2590 5530 sw4309;dbsnp10565 GALT1_HUMAN;NP_065207.2 "N541S,P510T,Y414D" "0,0,0" 2589 5697 sw430;dbsnp28951 TOR1B_HUMAN;NP_055321.1 "A54T,E301D,P184S,R206C,R295C,S133R" "0,0,0,0,0,0" 27348 9985 sw4310 AP1B1_HUMAN T777A 0 162 2337 sw4311;dbsnp17773 MN1_HUMAN;NP_002421.3 "A260V,E1184Q,G19D,N863D,P495L,P635Q,Q382H" "0,0,0,0,0,0,0" 4330 1131 sw4312;dbsnp21956 BST1_HUMAN;NP_004325.2 "A120T,A77V,E53K,G239R,I101V,L129V,P87S,R125H,R145Q,V272M" "0,0,0,0,0,0,0,0,0,0" 683 10435 sw4313;spmut239;dbsnp12691 BST2_HUMAN;NP_004326.1 "N49S,V143F,Y8H" "0,0,0" 684 13355 sw4314;dbsnp10935;dbsnp10936;hgmd0613_417 FUT2_HUMAN;NP_001091107.1;NP_000502.4 "A104V,A49V,A80T,D172N,G193S,G258S,G301R,I140F,R138C,R202Q,V217L" "1,0,0,1,0,0,0,1,1,0,0" 2524 9290 sw4316;dbsnp28074;dbsnp28075 SIA4A_HUMAN;NP_003024.1;NP_775479.1 "A34T,A91T,A91V,N111S,N332S,V16G" "0,0,0,0,0,0" 6482 9667 sw4317;dbsnp15840;hgmd0613_1486 SIAT6_HUMAN;NP_006270.1 "A13D,D370Y,R261Q" "1,1,0" 6487 7698 sw4318;dbsnp19565;hgmd0613_1183 KIF1A_HUMAN;NP_004312.2 "A1550P,A255V,D1556E,R604C,T46M,T99M" "0,1,0,0,0,1" 547 552 sw4319;dbsnp26679;dbsnp26680 SCRN1_HUMAN;NP_055581.3;NP_001138985.1 "I309V,Q338R,R64T,S189N" "0,0,0,0" 9805 7885 sw431;dbsnp11428 TMG2_HUMAN;NP_000942.1 "G116C,L159V,P22S,R104Q,R65Q" "0,0,0,0,0" 5639 12912 sw4320;dbsnp9317 K0195_HUMAN;NP_055553.3 "A620T,A706T,D1287G,E923D,G85R,I1040T,I790V,N1202S,N1214K,N482S,P1212S,P442L,R115L,R122L,R244C,R380C,R795H,R92H,R92L,S100L,S1231L,S225P,T1086S,V1209F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9772 1058 sw4322;dbsnp1969 NU160_HUMAN;NP_056046.1 "A219S,A40P,A40S,A40T,A784T,C886S,G991S,I669V,I835M,K332N,L41V,M1381V,P1201S,P281L,P635L,R1095H,S800P,T351A,T791A,V1216F,V1216I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23279 924 sw4323;dbsnp20912 SCAP_HUMAN;NP_036367.2 "I1010V,K229R,P262L,R1248H,R267Q,R857C,S597T,T472M,V798I" "0,0,0,0,0,0,0,0,0" 22937 1205 sw4324;sws529;spmut2027;dbsnp17487 SRBP2_HUMAN;NP_004590.2 "A1003V,A104V,D437E,D533N,G595A,G595S,G730V,M536L,P856L,R371K,R612C,R635C,R860S,S1017N,S526P,V623M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6721 1579 sw4325;dbsnp7302 TBL3_HUMAN;NP_006444.2 "A701V,A779T,D206N,D267N,E294Q,E746K,E746V,G305S,M210V,P234L,P288L,P450R,Q293R,Q34R,R140Q,R185Q,R401H,R665Q,R690Q,R726Q,S457P,T173M,T296A,T35I,V198L,V235M,V306M,V427I,V57M,V792M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10607 3153 sw4326;dbsnp7517 TF3C1_HUMAN;NP_001511.2 "C853Y,D1782G,D882N,E1876K,E2077K,F1959S,I892V,K765I,N716S,P857L,Q1889E,Q834R,R1480H,R1630H,R1630P,R1763C,R1858G,R2048W,S1672A,S2059L,S2074R,S827G,T1777A,T875M,V1571I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2975 373 sw4327;spmut1035;dbsnp619 KCMA1_HUMAN;NP_001154824.1 "A138V,A154S,A220D,D434G,D800Y,H30Q,M706L,R1225W,R754C,R754H" "0,0,0,1,0,0,0,0,0,0" 3778 1320 sw4328 HYAL1_HUMAN E268K 1 3373 7849 sw4329;dbsnp24731 PNRC1_HUMAN;NP_006804.1 "G15C,P149R,P169S,P252L,P39S,T54S" "0,0,0,0,0,0" 10957 10215 sw432;dbsnp5737;hgmd0613_1305 ABCD4_HUMAN;NP_005041.1 "A128V,A304T,A4P,D489N,E368K,H578R,I166T,L47F,Q59R,R136W,R251C,R348Q,R348W,R471W,R579Q,T350R,V172I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5826 5061 sw4330;dbsnp27654 ASPH_HUMAN;NP_004309.2 "A161T,E216G,E308D,G177R,G468R,P282S,R354M,R753H,T577I,T658A" "0,0,0,0,0,0,0,0,0,0" 444 3534 sw4332;spmut78;dbsnp6430 AKP13_HUMAN;NP_009131.2 "A1002T,A1014S,A1407T,A192V,A2387G,A2801T,A537V,A554G,A593G,A663T,D1086N,D1138G,D1138Y,D1206E,D1419H,D155G,D2043N,D619A,D720Y,E1106G,E1261K,E1621D,E1628G,E1628K,E2363D,E2530K,E2706G,E2758K,E334K,E689K,E689V,E757G,E994K,G1267R,G191R,G225R,G2457S,G344E,G380A,G624V,H2366Q,H997Q,I1248V,I1694V,I276V,I886V,K2788N,K526Q,K596E,L215V,M1216T,M452T,M487I,N1711S,N2167S,N2202S,N2410K,P1062A,P1209L,P1398S,P1527S,P1846S,P2392R,P2708L,P2800H,P2800R,P489L,P527R,P603R,P651S,P878L,Q2367R,Q2628E,Q2760E,Q584K,R2615Q,R2678W,R2736W,R329Q,R42H,R574C,S1525G,S1540R,S2179N,S2460F,S331F,S525N,S851F,S921C,S935F,S944P,T339S,T478A,T560I,T837M,V1644A,V376M,V845A,V845G,V897M,W494R,Y1512C,Y2205F,Y33H,Y824F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11214 171 sw4333;dbsnp19318;dbsnp19319;hgmd0613_600 FBLN3_HUMAN;NP_001034438.1;NP_001034437.1 "D49A,G116S,I220F,R345W,R387Q" "0,0,0,1,0" 2202 6784 sw4335;dbsnp30038 TROP_HUMAN;NP_001034794.1 "D1328N,F949V,G1120S,H799P,L170S,R65W,S738G" "0,0,0,0,0,0,0" 7216 935 sw4337;spmut312;dbsnp13467 CDC20_HUMAN;NP_001246.2 "A140V,G375E,R479L,R479Q,S282A,S282F,V361I,V402M" "0,0,0,0,0,0,0,0" 991 6688 sw4338;dbsnp14903 ZP4_HUMAN;NP_067009.1 "A114T,A114V,D264G,D264V,I296V,N470H,P295S,P437L,P453L,P494L,R191Q,R201Q,R252Q,R416C,S205L,S277G,S293P,S504L,T50M,V348M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57829 5983 sw4339;dbsnp22303 PO4F2_HUMAN;NP_004566.2 "A140T,D139E,I40T,N387K,P131L,P184S,P95L" "0,0,0,0,0,0,0" 5458 8402 sw433;dbsnp3233 EI24_HUMAN;NP_004870.3 "D30G,H197Y,I196D,P195W,R59W,T319A,V199H" "1,1,1,1,0,1,1" 9538 9897 sw4341 GRSF1_HUMAN D277Y 0 2926 7003 sw4342;sws530;dbsnp4446 M3K12_HUMAN;NP_006292.3 "D843N,G628R,G640D,G640S,P336L,R688Q,S691I,T653P,V848I" "0,0,0,0,0,0,0,0,0" 7786 2253 sw4343;sws531;dbsnp3940 CNTN1_HUMAN;NP_001834.2 "A668E,E824G,M417I,N457D,R187Q,R324K,R571Q,R977C,S215G,S775N,V32I,V798L,V929I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1272 1938 sw4344;dbsnp27430;dbsnp27431 CAD17_HUMAN;NP_004054.3;NP_001138135.1 "A269V,A822T,D693G,E734D,E739A,G392V,G586V,H327R,I446T,K115E,L199M,L647F,N176S,N456S,P33S,Q23R,R499C,R499H,R607G,R745C,T606K,V274A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1015 3021 sw4346;dbsnp3638 SFSWA_HUMAN;NP_004583.2 "A348V,A880T,A883V,A887E,D455N,E538G,G432R,G512S,G556E,L122F,L136F,L421P,L52Q,N404D,P749L,R551W,R830C,R841Q,R906S,S563G,T565A,V149M,V189I,V456I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6433 2331 sw4347;dbsnp8723 CHD3_HUMAN;NP_001005273.1 "A1523T,A3V,E1581D,E589D,I1589V,P23S,Q1579E,R108Q,R1682Q,R1987Q,R343H,T141A" "0,0,0,0,0,0,0,0,0,0,0,0" 1107 397 sw4348;sws533;dbsnp8154;dbsnp8155;hgmd0613_509 NMDE1_HUMAN;NP_001127879.1;NP_000824.1 "I161M,K221R,K270E,N1076K,N615K,Q1265H,R1451S,R970Q,T1064A,T141M,V1444I,V452M,V967L" "0,0,0,0,1,0,0,0,0,0,0,0,0" 2903 852 sw434;dbsnp23030;dbsnp23031;dbsnp23032 ENC1_HUMAN;NP_001243504.1;NP_001243503.1;NP_003624.1 "I256S,K520N,T473N,V542M" "0,0,0,0" 8507 5279 sw4351;spmut2196;dbsnp6405 TP53B_HUMAN;NP_005648.1 "A1170G,A1471S,A798S,C1159Y,D225A,D353E,D841G,D980E,E1014G,E1137K,E737D,G1488W,G412S,I1174V,K1136Q,M648V,M716V,N1792S,P1482S,P909L,Q699R,R1314C,R1442Q,R1449Q,R1508Q,R1748C,S294P,S320C,S877P,T1020A,T357M,T548A,T610M,V1026A,V1916I,V487I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7158 441 sw4352;sws534;dbsnp12885 OVGP1_HUMAN;NP_002548.3 "A171T,D332E,E676Q,G468R,G528S,H529Y,H604Q,M477T,M479V,P519T,P526S,P585A,R571H,R641H,S511P,S536G,S541T,T415M,T503S,T504P,T518S,T523A,T533S,T603I,Y514H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5016 4287 sw4353;dbsnp20005;dbsnp20006 HYAL2_HUMAN;NP_149348.2;NP_003764.3 "I418L,S18A" "0,0" 8692 7142 sw4354;dbsnp20319 IFRD2_HUMAN;NP_006755.4 "E368D,L160F,R502Q,Y280C" "0,0,0,0" 7866 6543 sw4355;dbsnp25281;dbsnp25282 TRI26_HUMAN;NP_003440.1;NP_001229712.1 "A401S,D159N,E393D,E427G,G402S,G86V,P89L,Q197H,R94W,T218M,V136I,Y403F" "0,0,0,0,0,0,0,0,0,0,0,0" 7726 6000 sw4356;sws535 ZN155_HUMAN "I157F,K379R,R251H" "0,0,0" 7711 4016 sw4357;dbsnp21832;dbsnp21833 AIMP1_HUMAN;NP_001135887.1;NP_004748.2 "I236T,K121N,P198S,P79A,T104A,T117A" "0,0,0,0,0,0" 9255 10001 sw4358;dbsnp11136 ILF3_HUMAN;NP_036350.2 "A488T,A488V,A501S,D50H,G706A,N680S" "0,0,0,0,0,0" 3609 2625 sw4359;spmut1395 NTCP2_HUMAN S171A 0 6555 9701 sw435;dbsnp3370;hgmd0613_1072 MLL2_HUMAN;NP_003473.3 "A2657V,A476T,A4942G,C323Y,C5109F,D3419G,G3290D,G5428D,L2245V,L3591I,M3349V,M3398V,M3777I,M3870I,P1191L,P2382S,P2400A,P2557L,P2948L,P3665A,P443Q,P594Q,P692T,P813L,P881L,Q1361H,R2460C,R4357S,R4825W,R5179H,R5214H,R5224H,R5340L,R83Q,S4010P,T1246M,T2959N,T5464M,V3438M,Y5210C" "0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,1,0,0,0,0,1,0,1" 8085 17 sw4360 LRMP_HUMAN L241W 0 4033 5766 sw4361;sws536;spmut1665;dbsnp1725 PTPRJ_HUMAN;NP_002834.3 "A293T,A951V,E872D,G446A,G471S,H451R,H861Q,I1235T,I1319V,I470M,I505V,N1186K,N192S,N278D,P445L,R326Q,R418H,R425H,R712W,R894H,S635R,T1091M,T1169I,T467M,T499A,V372I,V414I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5795 1092 sw4362;dbsnp3541 KLRB1_HUMAN;NP_002249.1 "C31F,E103K,E19K,I168T,I66M,S128G" "0,0,0,0,0,0" 3820 12436 sw4363;spmut1655;dbsnp21776 PTN13_HUMAN;NP_542414.1 "A1429T,A2179T,D1042Y,E1625K,E1795K,F1356L,G289S,I1522M,I2458V,K1303R,L1419P,L1955P,L473F,L90V,M2443I,R2205Q,R323H,R558Q,S1744P,T1188I,T2161A,T2381I,V1868F,V449L,V797I,W1274C,Y2081D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5783 244 sw4364;dbsnp3505 EPS8_HUMAN;NP_004438.3 "A705T,A806S,D186A,D761E,F444L,H35R,I521T,I700T,L784F,P626T,R194K,R519C,R656H,T726I,T732M,V635I,V744I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2059 3078 sw4365;dbsnp7266 TRAP1_HUMAN;NP_057376.2 "A608S,A649V,D185E,D395E,D685N,E192K,E462D,E572K,F283L,I253F,I253V,L371V,L638M,Q165E,R128H,R307G,R340H,R37W,R388Q,R469C,R469H,R47Q,R491Q,R602Q,R658H,R692C,R692H,R692P,R703Q,S259C,S259F,T535S,T579M,Y444N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10131 4042 sw4366;dbsnp16457 BFSP1_HUMAN;NP_001186.1 "A296V,A592V,D656E,E375D,G345S,G46A,H176Y,I271T,L135F,M140V,N383S,R275C,T246A,V504M,V646M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 631 4419 sw436;dbsnp702 TRDMT_HUMAN;NP_004403.1 "D226E,G89D,H101Y,I60V" "0,0,0,0" 1787 8772 sw4370;dbsnp439;hgmd0613_1975 ANK3_HUMAN;NP_066267.2 "A1630V,A2004V,A2023T,A4301S,A721S,A754V,D2319N,D2775H,E314K,E3352G,E3563G,F1574L,G2845E,G423S,H2885Q,H4370L,I1202M,I2158T,I2572T,I3117V,I4257V,K1467R,K2306E,K2318R,K2906N,K3123R,K3348E,K3651N,K3942R,N2643S,N3789S,N4272K,P1489S,P1669L,P1777S,P2191A,P2191T,P2490L,Q2185H,Q2996H,Q3343E,R1998W,R2328C,R2579K,R2614H,R4369Q,S1826C,S2409P,S3697C,S3751G,S4342R,T128A,T1299M,T1609M,T1861M,T3046S,T3333S,V2758I,V3228L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 288 60 sw4371;dbsnp20179 DLG1_HUMAN;NP_001091894.1 "D666E,K140R,P899L,R278Q,R552H,R694C,R797Q,S143P,V377I,V717L" "0,0,0,0,0,0,0,0,0,0" 1739 2212 sw4372;spmut2093;dbsnp2023 TAF10_HUMAN;NP_006275.1 "I92T,T61M" "0,0" 6881 12568 sw4373;dbsnp6707 MYO1E_HUMAN;NP_004989.2 "A159P,A221V,A891V,D185G,D571E,E346Q,E753K,E862K,G795R,H379D,I489T,I531M,L539M,N105T,N938D,P1049H,R326W,T876R" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4643 1688 sw4374;dbsnp7522 NFAC3_HUMAN;NP_775188.1 "A1059S,D738E,E94A,H316R,I1026V,I476V,I785V,L100S,L153P,P105T,P136L,P382S,P524L,P955A,Q911H,R138W,R369W,S269T,S459F,S75L,T3A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4775 1799 sw4375;dbsnp9633 ABR_HUMAN;NP_068781.2 "A62T,D30N,K517R,P637L" "0,0,0,0" 29 1226 sw4378;spmut1358;dbsnp28663 NFX1_HUMAN;NP_002495.2 "A471V,H1091D,H731Y,L1104S,N287S,N498S,P1086Q,P1087L,P760S,P859L,P859R,P866L,Q942E,R1032Q,R487C,S207T,S573L,S915P,V1000I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4799 1654 sw437;dbsnp10564 RIOK3_HUMAN;NP_003822.2 "L336V,L47V,R394Q,R441Q,R441W,R462Q,S20R,S447L" "0,0,0,0,0,0,0,0" 8780 6323 sw4380;sws538;dbsnp24756 GRIK2_HUMAN;NP_068775.1 "I567V,M867I,P205S,Q621R,R543H,S297W,T317M,V766I,Y571C" "0,0,0,0,0,0,0,0,0" 2898 2501 sw4381;sws539;dbsnp14252 GRIK3_HUMAN;NP_000822.2 "A266T,G817R,P410S,R352Q,R423Q,S310A,S620C,T176P,T388M,V746I" "0,0,0,0,0,0,0,0,0,0" 2899 2501 sw4382;dbsnp13358 IL24_HUMAN;NP_006841.1 "H125R,L10P,L180V,S101L,V131L,Y124H" "0,0,0,0,0,0" 11009 12821 sw4383;sws540;dbsnp16984 TIAM1_HUMAN;NP_003244.2 "A1569T,A163V,D1023V,D913H,E1567D,E204K,F165V,G1539D,G247R,G247V,K1469R,K573R,K886R,L819H,Q1078E,Q844H,R1007H,R1448W,R1549H,R23C,R31H,R871Q,S703C,S988T,T109I,T216M,T473M,T647M,T779M,V1083M,V112I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7074 740 sw4384;dbsnp10774 ECH1_HUMAN;NP_001389.2 "D284N,E41A,G217R,G239S,S8C,V246M,Y55C" "0,0,0,0,0,0,0" 1891 10191 sw4385;dbsnp5876 RHG05_HUMAN;NP_001025226.1 "A1406T,A652T,D952N,E1423K,I17V,I678M,I767T,I840V,K595E,L1264V,L1367F,M1476V,M454I,N1451S,N953S,R1170G,R635W,S1218Y,S1436F,S683F,T1003A,T1097K,T437I,V1268I,V1477G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 394 822 sw4386;dbsnp18131 PLA2R_HUMAN;NP_031392.3 "A370E,A434T,A653P,C501F,D813G,G1106S,G88S,H189R,H300D,H605P,I279V,K652N,K940R,M292V,N238S,N295S,N433S,P125R,P177S,P600L,P600Q,P807L,P952S,Q187R,R142Q,R404H,R887C,S284N,S979N,T1238A,V1403A,V631M,V680L,W1328G,W341C,Y499C,Y665C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22925 877 sw4387;sws541;dbsnp5507 AKAP6_HUMAN;NP_004265.3 "A1492V,A2051T,A2284S,A337V,A731T,D2209H,D310N,E2168D,E2267D,E892K,F2171Y,G1092V,G1112E,G2257R,G239W,H460Y,I864T,L1810M,L240P,M1302I,M592V,N139S,N2035D,N2127S,N408S,N558D,P431S,Q1554P,Q639K,R1500C,R1724C,R513L,R862G,R862W,S1489N,S1563Y,T1516A,T2210A,T322A,T888N,V1201A,V142L,V1433M,V1522I,V1853A,V6M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9472 299 sw4389;dbsnp5652 STRN3_HUMAN;NP_001077362.1 "A16T,F639L,M715T,N471S,Q169P,R367K,S197A,V648I" "0,0,0,0,0,0,0,0" 29966 3231 sw438;spmut965;dbsnp10542 IMPA2_HUMAN;NP_055029.1 "A88T,R148Q,R158W" "0,0,0" 3613 10003 sw4390;spmut2068;dbsnp16491 STK4_HUMAN;NP_006273.1 "H162N,I355T,K16R,N253S,P416L,R282K,R310Q,R332L,R332Q,T353A,V312M" "0,0,0,0,0,0,0,0,0,0,0" 6789 6820 sw4391;spmut705;dbsnp8554 FLII_HUMAN;NP_002009.1 "A1158T,D1184N,D585N,E364V,F1143Y,H1252Y,I1040V,L245V,M1021T,N994S,P723L,R1243H,R206Q,R237W,T151A,V85M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2314 1233 sw4392 PSG7_HUMAN H65Y 0 5676 7855 sw4394;dbsnp8669;dbsnp8670 COASY_HUMAN;NP_001035994.1;NP_079509.5 "A395T,G399R,I556V,P268S,S55Y,V83F" "0,0,0,0,0,0" 80347 5234 sw4395;dbsnp24879;hgmd0613_1452 TRDN_HUMAN;NP_006064.2 "D419E,E135K,G516A,H144Y,I276V,I438N,I438S,I540M,K250N,K317E,K396N,L201V,L470M,Q543K,R632K,S339N,T128S,T59R,V404G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 10345 3788 sw4396;spmut217;dbsnp23939 BIRC1_HUMAN;NP_004527.2 "A161P,A161S,A161T,C203F,C203S,C203Y,H17N,L34M,L34V,R63S,V535M" "0,0,0,0,0,0,0,0,0,0,0" 4671 974 sw4397;spmut2204;dbsnp29109;dbsnp29110 TRAF1_HUMAN;NP_001177874.1;NP_005649.1 "A284T,M139T,N275S,P138S,P46L,R129W,R195H,R342Q" "0,0,0,0,0,0,0,0" 7185 8252 sw4398;dbsnp7301 RM28_HUMAN;NP_006419.2 "A242T,A247V,D160E,E83Q,G47E,H27Y,H4R,L14V,P40S,R130Q,R252T,Y230C" "0,0,0,0,0,0,0,0,0,0,0,0" 10573 11782 sw4399;sws543;spmut31;dbsnp8934;dbsnp8935 ACACA_HUMAN;NP_942136.1;NP_942133.1 "A2271V,D1007E,D273Y,K2127R,L1405V,L2168V,M1211V,N1866S,Q604H,Q68L,R266H,R838W" "0,0,0,0,0,0,0,0,0,0,0,0" 31 273 sw439;sws31;dbsnp11097 MP2K7_HUMAN;NP_660186.1 "A195T,E116K,L259F,N118S,R138C" "0,0,0,0,0" 5609 8169 sw43;dbsnp29690 MAGBG_HUMAN;NP_001093391.1 "C128Y,H161R,L38F,M248K,M248V" "0,0,0,0,0" 139604 10290 sw4400;spmut1497;dbsnp7340 PDIA2_HUMAN;NP_006840.2 "A188T,A197T,A316S,A316V,D483V,E116G,E185K,G352V,G460S,H130Y,M93V,P382A,P39S,P502S,R138Q,R207Q,R388Q,R473Q,T115M,T119R,T286M,T481S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64714 6207 sw4402;dbsnp5024 IFT88_HUMAN;NP_783195.2 "A637S,A85T,C672S,D817A,H690Q,K517E,L125F,M383I,N211S,P91S,Q230H,S214G,S455N,S671G,T93A,V414L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8100 3013 sw4403;dbsnp19203 SPP24_HUMAN;NP_008875.1 "A101T,D42N,E172K,F151S,S38F,T9M,V120M" "0,0,0,0,0,0,0" 6694 12713 sw4404;dbsnp11289 ZN154_HUMAN;NP_001078853.1 "G122V,H57R,L182V,P384L,S164N,T157I" "0,0,0,0,0,0" 7710 2862 sw4405;spmut2307;dbsnp20328 UBP4_HUMAN;NP_003354.2 "D367E,D925E,I846V,K545R,K811R,L105I,N424S,R827C,S764T,V564M,Y620C,Y630C" "0,0,0,0,0,0,0,0,0,0,0,0" 7375 2262 sw4406 CAF1A_HUMAN "A923V,D167V,K850R,M239V,S950A" "0,0,0,0,0" 10036 2301 sw4407;dbsnp17153 CAF1B_HUMAN;NP_005432.1 "A63V,K506Q,P415L,R28G,R498W,T507M,V16A" "0,0,0,0,0,0,0" 8208 5698 sw4408;spmut2206;dbsnp5538;dbsnp5539;hgmd0613_1045 TRAF3_HUMAN;NP_663777.1;NP_003291.2 "A188T,M129T,R118W,R150H,R321Q,T244S" "0,0,1,0,0,0" 7187 5571 sw4409;dbsnp27702;hgmd0613_1405 KLF10_HUMAN;NP_005646.1 "A316T,C170W,K58N,P112S,P269S,Q10H,R186I,S249F,S363A,T189S,V220A" "0,0,0,0,0,0,0,0,0,0,0" 7071 7004 sw440;dbsnp8046 CDIPT_HUMAN;NP_006310.1 "A65V,R199C,S137L" "0,0,0" 10423 12672 sw4410;dbsnp28860 MTAP_HUMAN;NP_002442.2 "A218V,F184V,R187H,V56I" "0,0,0,0" 4507 11218 sw4411;dbsnp21906;dbsnp21907 REST_HUMAN;NP_001180437.1;NP_005603.3 "D649G,D847G,D952G,E671D,E692D,E829G,E853Q,G101D,G92R,I747M,K762Q,M701I,N390S,P123A,P689S,P735S,P736S,P776A,P797L,P815S,R645W,S539P,S750T,V547A,V626I,V670M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5978 1723 sw4412;dbsnp14370 RLF_HUMAN;NP_036553.2 "A873T,C1686Y,E1286G,E1784D,F994S,G957D,H1676L,I1521M,I255V,L1487V,P1054S,P1608A,P1608T,P1629L,P867H,P935L,Q1685E,Q1735P,R1622C,R38C,R668K,S1384I,S1399P,S260C,S573F,T1853A,V932A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6018 473 sw4413;sws544;spmut21 AAPK1_HUMAN M10L 0 5562 5699 sw4414;dbsnp2784 NR1H3_HUMAN;NP_005684.2 "G138D,G52V,K328E,L192S,R415Q,S440C" "0,0,0,0,0,0" 10062 7534 sw4415;dbsnp1440 LIPA1_HUMAN;NP_003617.1 "A1153T,A758V,D362G,G558R,L1072F,M678V,N1070D,N98S,P151S,P683R,P695L,Q29H,R508K,R750L,R750Q,S692F,T609A,T956A,V71I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8500 1263 sw4416;spmut254;dbsnp8560 CACO2_HUMAN;NP_005822.1 "E222K,G140E,G227R,P389A,T273A,V248A" "0,0,0,0,0,0" 10241 7653 sw4420;dbsnp26473 AIMP2_HUMAN;NP_006294.2 "A129G,G209S,I92V,L166I,P37A,R65C,V6L" "0,1,1,0,0,0,0" 7965 10391 sw4421;dbsnp29834 RFA4_HUMAN;NP_037479.1 "A33T,G217R,N50D,V156M,Y9C" "0,0,0,0,0" 29935 11672 sw4422;spmut661;dbsnp2848;hgmd0613_1113 FADD_HUMAN;NP_003815.1 "A207V,C105W,E206K" "0,1,0" 8772 12780 sw4423;spmut1263;dbsnp7074 MP2K5_HUMAN;NP_660143.1 "A427V,A428T,H118R,P128S,R125Q,Y223C" "0,0,0,0,0,0" 5607 7625 sw4424;dbsnp8954;dbsnp8955;dbsnp8957 MK07_HUMAN;NP_620603.2;NP_002740.2;NP_620602.2 "A611V,A621V,A808G,G550A,P589S,P616L,R329C,R343H,R535H" "0,0,0,0,0,0,0,0,0" 5598 3108 sw4425;dbsnp9446 S13A2_HUMAN;NP_003975.1 "A310P,F254L,I550V,L44F,M45L,N586T,P182Q,P385S,T481M,V31I,V477M,V501I,V80L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9058 4686 sw4426;sws545;spmut2067 STK3_HUMAN F418C 0 6788 6820 sw4429;dbsnp20834 PSMD2_HUMAN;NP_002799.3 "A176T,D280N,D7E,E313D,K623R,N724Y,N905S,V597M" "0,0,0,0,0,0,0,0" 5708 2569 sw4430;dbsnp21853 MMRN1_HUMAN;NP_031377.2 "C985Y,D268N,D768N,E518K,G883D,H699Y,I1057M,I672M,K411R,K80T,N1075K,N114I,P278L,Q897K,R1227L,R715K,T578S,T58A,T664A,T805A,T830I,T964R,V109E,V435I,V435L,V44I,V516L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22915 1336 sw4431;dbsnp13860 MYBPH_HUMAN;NP_004988.2 "A114G,A49G,D240N,G31R,K4E,P47S,Q48H,R133Q,R219Q,R223C,R249H,R319H,V250M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4608 7060 sw4434;dbsnp28398 PAPP1_HUMAN;NP_002572.2 "A280V,A678P,E254K,E373K,E705V,F802L,H365N,L1451P,P1351A,P324L,P325L,Q1401K,Q1612H,R1232H,R1315C,R1315H,R1388W,R654K,S1007N,S1224Y,S148P,S1513P,S5I,S944R,T686A,V1383M,V155M,V449M,V846M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5069 703 sw4435;dbsnp3414;hgmd0613_510 NMDE2_HUMAN;NP_000825.2 "A1267S,A1267T,A1414S,A271V,R1422Q,R682C,R938H,S407N,S882A,V1167I" "0,0,0,0,0,1,0,0,0,0" 2904 852 sw4436;dbsnp9018 GPS2_HUMAN;NP_004480.1 T306A 0 2874 10216 sw4438;dbsnp23085;hgmd0613_1430 M3K1_HUMAN;NP_005912.1 "C443S,D590Y,D806N,G616R,L189P,L189R,N255S,S1039P,S92N,S939C,T896A,V906I" "0,0,0,1,1,1,0,0,0,0,0,0" 4214 809 sw4439;sws548;dbsnp22393 KGP2_HUMAN;NP_006250.1 "F671L,H106R,H10R,H204R,H340R,K288N,L453F,M180I,P93L,R722G,T22S,T23S" "0,0,0,0,0,0,0,0,0,0,0,0" 5593 3501 sw443;spmut353;dbsnp1409;dbsnp1410;dbsnp1411 CHK1_HUMAN;NP_001107593.1;NP_001265.2;NP_001107594.1 "E223V,I471V,Q403R,R156Q,V312M" "0,0,0,0,0" 1111 7073 sw4440;spmut1956;dbsnp27699 SLAP1_HUMAN;NP_001039021.1 "E112D,P15T,P19L,V129G,Y143C" "0,0,0,0,0" 6503 10518 sw4441 KLRD1_HUMAN S25A 0 3824 13371 sw4442;dbsnp6334;dbsnp6335 SRSF5_HUMAN;NP_001034554.1;NP_008856.2 "A160S,R201C" "0,0" 6430 6757 sw4444;sws550;dbsnp24240;hgmd0613_511 GRM1_HUMAN;NP_000829.2 "E741D,G1036V,G1054D,G861S,G884E,P1015S,P1069L,P1071R,P1072A,P729T,R285K,R358K,S1167Y,S34Y,S593P,S993P,V308I,V929I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2911 1387 sw4445;dbsnp6092 PD2R_HUMAN;NP_000944.1 "A253G,A97V,E301A,F159L,G172R,G192S,G198E,R237H,R332Q,R55H,R7C" "0,0,0,0,0,0,0,0,0,0,0" 5729 9447 sw4448;dbsnp20085 SEM3F_HUMAN;NP_004177.3 "A474G,G15R,I186V,L503M,Q123R,R451Q,R456C,R655S,S19P,V119I,V689I" "0,0,0,0,0,0,0,0,0,0,0" 6405 3315 sw4449;dbsnp1857 STX3_HUMAN;NP_004168.1 "E83D,G276S,I63V,N90K,Q15R,R261W,S285P,S65C,V286I,Y60H" "0,0,0,0,0,0,0,0,0,0" 6809 11118 sw444;dbsnp27421 TR10B_HUMAN;NP_003833.4 "A67V,G159V,G19D,I95V,P314L,P32L,P63R,R257C,T197M,T282N,T408M,V191A,V191G,V229G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8795 7762 sw4452;dbsnp18198 NMI_HUMAN;NP_004679.2 "A105T,E307K,F148L,G189R,I265V,S16L,Y225C" "0,0,0,0,0,0,0" 9111 10709 sw4454;dbsnp15702;dbsnp15704;dbsnp15706 KCAB2_HUMAN;NP_003627.1;NP_001186790.1;NP_001186789.1 E88K 0 8514 8185 sw4455;sws553;spmut1653;dbsnp25006 PTK7_HUMAN;NP_002812.2 "A320T,A393T,A393V,A777V,E745D,E766Q,G207D,G360E,H274R,H783R,M746L,P1029T,P345L,P698L,P698R,Q624E,R1038Q,R1042H,R269H,R276H,S353R,T410S,T675M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5754 1819 sw4456;dbsnp24219 SKP2_HUMAN;NP_005974.2 "I222T,L87I,P85L" "0,0,0" 6502 8058 sw4457;dbsnp14808 PABP4_HUMAN;NP_003810.1 "A114V,E242K,I260V,Y382F" "0,0,0,0" 8761 4486 sw4458;sws554;spmut176 ATM_HUMAN "A2274T,A2420P,A3006P,A350T,D140H,D2625Q,D2725G,D2725V,D2870N,E2164K,E2423G,F2732L,G2287A,G2695A,I1407T,I352T,K3018N,L1910H,L2492R,L2722R,L2890V,M1040V,M1321I,N1650S,N1983S,N504S,P1382S,R2486G,R250Q,R924W,S2218C,S49C,T2396S,Y332C" "1,1,1,1,0,1,1,1,0,1,1,1,0,1,1,1,1,1,0,1,1,1,0,0,0,0,0,1,0,0,1,0,1,1" 472 141 sw445;dbsnp15154 GBRD_HUMAN;NP_000806.2 "E177A,P384S,R220C,R220H,T401M,V259I" "1,0,1,0,0,0" 2563 7547 sw4461;dbsnp17568 BIK_HUMAN;NP_001188.1 "A145V,E19K,L142P,L143P,L148P,R76C,T26I" "0,0,0,0,0,0,0" 638 13718 sw4462;dbsnp26498 CRFR2_HUMAN;NP_001874.2 D2N 0 1395 7695 sw4463 SGCG_HUMAN "G69D,N287S" "1,0" 6445 10625 sw4464;dbsnp5419 MTA1_HUMAN;NP_004680.2 "A612T,A75V,P454A,S136L,V372I,V556M" "0,0,0,0,0,0" 9112 3914 sw4465;sws555;dbsnp11338 PTPRS_HUMAN;NP_002841.3 "A991V,C1457R,C27Y,E495K,E853A,G1136S,G1674C,H1221N,K40R,P1255A,P1467L,P548L,R1206Q,R1384Q,R1608Q,R1608W,R835C,R929C,S1852L,T80M,V113A,V1249M,V1488I,V1776M,V1889I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5802 453 sw4467;dbsnp18729 LY10_HUMAN;NP_009168.4 "E516K,G412R,L356F,M512T,R558C,S55N" "0,0,0,0,0,0" 11262 2786 sw4469;spmut338 CENPR_HUMAN I30V 0 23421 12618 sw446;dbsnp14696 FPGT_HUMAN;NP_003829.2 "A449V,C296R,D213V,K279E,P210S,P448L,P8Q,Q17E,S532C,T108P,T518A,Y117C" "0,0,0,0,0,0,0,0,0,0,0,0" 8790 5205 sw4470;dbsnp11318 ZN177_HUMAN;NP_001166121.1 "A272T,D94G,D94V,H310P,H310R,I295F,K271T,K65E,K72N,M98V,P151L,S304T,S64C,T112M,V281I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100529215 6995 sw4471;dbsnp5724 2A5G_HUMAN;NP_002710.2 N17S 0 5527 5119 sw4472;dbsnp9580 MPP3_HUMAN;NP_001923.2 "D557E,H427R,R585G,S206Y" "0,0,0,0" 4356 5331 sw4473;spmut1492;dbsnp2839 PDE3B_HUMAN;NP_000913.2 "A87V,D165E,E1015K,E1092Q,E414D,E606A,I671M,L248P,M583T,P23L,P43L,R783Q,S26C,S26G,V496I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5140 1685 sw4474;dbsnp29450 PHLP_HUMAN;NP_005379.3 "K218N,L4F,N64S,R149W,R68H" "0,0,0,0,0" 5082 10831 sw4475;dbsnp17721 JIP2_HUMAN;NP_036456.1 "C529W,E80G,G203A,P743L,R747C" "0,0,0,0,0" 23542 3066 sw4477;dbsnp5240 MB211_HUMAN;NP_005575.1 "A6V,M274V,S70P,V41I" "0,0,0,0" 4081 9448 sw4478;dbsnp13707 TARB1_HUMAN;NP_005637.3 "A1014S,A425T,A484T,A863V,D1113E,D513G,D672H,D672N,F997L,G655R,H1349Q,H864P,I1359V,I1461V,K1122R,L1351F,L221P,L833I,M477I,N743S,P1181A,R1338C,R154G,S392T,S430F,S678G,T1038I,T166A,T600A,V614L,V953M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6894 711 sw4479;dbsnp11773 ZN211_HUMAN;NP_942152.1 "A205T,A314V,A67V,D110N,I560T,L356F,M1V,P95R,R360H,R528C,T532M,T69M" "0,0,0,0,0,0,0,0,0,0,0,0" 10520 2862 sw4480 MYO7A_HUMAN "D2142N,F1992I,G1740S,I205V,L16S,V597I,Y1719C" "0,0,0,0,1,0,1" 4647 332 sw4481;dbsnp2594 RM49_HUMAN;NP_004918.1 "R50C,T4I,T9A,V124M" "0,0,0,0" 740 13609 sw4482;dbsnp24641 BT1A1_HUMAN;NP_001723.2 "A213T,D100N,D503E,E274K,E292D,G524E,H138P,I220T,N439K,P521S,R350C,R92C,S191F,T123M,V303A,V396I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 696 6191 sw4483;dbsnp13913;dbsnp13914;hgmd0613_1159 ORC1_HUMAN;NP_001177747.1;NP_004144.2 "A372V,A471T,A857V,C469R,C469Y,E127G,F89S,K456E,L488M,M816T,Q180H,R105Q,R19S,R396W,R441M,R549C,R666W,R720Q,R721Q,S269L,S440P,T466M,T607A,V190M,V772I" "0,0,0,0,0,1,1,0,0,0,0,1,0,0,0,0,1,1,0,0,0,0,0,0,0" 4998 2820 sw4484;dbsnp18571 ORC2_HUMAN;NP_006181.1 "D374E,M106K,R521Q,T132M,T485N" "0,0,0,0,0" 4999 5456 sw4485;dbsnp7439 MSLN_HUMAN;NP_037536.2 "A518V,A538V,A560T,A72V,E113K,E199Q,E310K,G497E,G76S,L118V,L248P,M601V,N402D,N496D,P111T,P470L,P541L,P566L,P616L,Q257H,R139H,R249Q,R309H,R309P,R565H,R575Q,S243P,S606L,T513M,V483I,V555M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10232 4797 sw4487;dbsnp7406 SNTB2_HUMAN;NP_006741.1 "D424E,M138I" "0,0" 6645 5984 sw4488;spmut2386;dbsnp23411 XRCC4_HUMAN;NP_071801.1 "A247S,A56T,D103N,E142Q,I134T,I336T,L75S,N137K,N326H,Q240P,S12C" "0,0,0,0,0,0,0,0,0,0,0" 7518 9986 sw4489;dbsnp17994 PPIG_HUMAN;NP_004783.2 "D445E,D642Y,H409R,N699D,Q637E,R488G,R565G,R600T,S257G,S658C,S658F,V272L" "0,0,0,0,0,0,0,0,0,0,0,0" 9360 3574 sw448;dbsnp6881 GBB5_HUMAN;NP_057278.2 "A213V,K189N,V121M,V131G,V240I,V8F,V8I" "0,0,0,0,0,0,0" 10681 8679 sw4490;sws557;dbsnp22923;hgmd0613_694 TCOF_HUMAN;NP_001128715.1 "A1081T,A1237T,A1390V,A221P,A374S,A378V,A41V,A464T,A657T,A665P,D1432G,E345G,E622K,G1280R,G1431A,G321R,I575V,K1064R,K1335R,M1207K,N109S,P1176R,P1472L,P434S,P516L,P730S,P749S,R667Q,R77H,S1201F,S1201Y,S410L,S696R,S922L,T1179S,T750A,V595I,V597I,V839I,V887A,W53R,Y1206C" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 6949 847 sw4491 S39A6_HUMAN E119D 0 25800 3566 sw4492;spmut1426;dbsnp4121 OS9_HUMAN;NP_006803.1 "A363V,E511G,I202T,K303N,R398W,R430Q,R649Q,S454L,T5R" "0,0,0,0,0,0,0,0,0" 10956 4400 sw4493;spmut786;dbsnp20794 GOGA4_HUMAN;NP_002069.2 "A1074V,A2006V,A933T,D47E,E1193D,E1575G,E2126G,H1673R,I1215V,I1794T,K1197R,K1261T,K1337E,K1606E,K598E,K613R,K716E,K971Q,L1383F,L16F,L1877F,L1928V,M1793K,M2221I,N1552S,N599I,Q1028K,Q559H,Q823P,Q864R,R1169W,R1776H,R2058S,R2066C,R388C,R68W,R700H,S1190F,S60F,S797C,T1538A,T58I,V1611G,V633D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2803 320 sw4494;dbsnp13810 ADA15_HUMAN;NP_997080.1 "A301V,A542T,A543V,E216K,G485E,H80L,K191T,L240M,M316L,M316V,N563K,P193A,P294H,P294L,P419T,P502Q,P767L,P769S,Q50P,R106W,R124Q,R396Q,R474C,R718H,R745Q,S714G,T732P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8751 2808 sw4495;dbsnp27831 TUSC3_HUMAN;NP_006756.2 I65V 0 7991 9249 sw4497;sws559;spmut1813;dbsnp10417 ROCK1_HUMAN;NP_005397.1 "C1264R,C1264Y,G760A,K222E,L1097F,N16S,Q1217E,Q703H,Q827R,R1262Q,R683W,S108N,T1112P,T347M,T773S,V1285I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6093 1000 sw4498 MDS1_HUMAN P120S 0 2122 1313 sw4499;dbsnp19292 FZD5_HUMAN;NP_003459.2 "P103R,P216L" "0,0" 7855 5332 sw449;spmut1330;dbsnp10265 NDC80_HUMAN;NP_006092.1 "A605P,E348D,G28D,G428V,S66A,V122L" "0,0,0,0,0,0" 10403 4670 sw450 KIF3C_HUMAN Q370R 0 3797 3264 sw4500;dbsnp16441 NFAC2_HUMAN;NP_775114.1 "A778V,A838P,D907G,G293A,H446R,M832I,P239S,P848L,P889L,R411W,R651C,R741C,R741G,S326N,T599M,T612N,V51L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4773 2466 sw4501;sws560;dbsnp9244 TNK1_HUMAN;NP_001238831.1 "G571R,R461Q,R461W,R539C,R626Q,S546C,S94L,T514K,V278I,V598M" "0,0,0,0,0,0,0,0,0,0" 8711 4408 sw4502;dbsnp9380 TOP3A_HUMAN;NP_004609.1 "A461T,C596Y,D202N,D459N,D742N,E587Q,E629K,G739R,H499P,I280M,L584R,N773D,P385S,P757L,R135Q,R341K,R405C,S960L,T743S,T812I,V904I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7156 2102 sw4503;dbsnp30019 DRP2_HUMAN;NP_001930.2 "A147T,A426V,A99T,F175C,Q334E,R840H,S475N,S60R,V447I,V68L" "0,0,0,0,0,0,0,0,0,0" 1821 2296 sw4504;dbsnp11125 MADCA_HUMAN;NP_570116.2 "A327V,D234N,E247D,G378R,P232S,P238L,P238Q,P246Q,P262Q,P300H,R346Q,S248P" "0,0,0,0,0,0,0,0,0,0,0,0" 8174 8937 sw4505;dbsnp18934 IL18R_HUMAN;NP_003846.1 "G423R,N232I,N232K,R210H,S310N,S505Y,T139I,T170M,V186M" "0,0,0,0,0,0,0,0,0" 8809 5970 sw4508;dbsnp10909 SNPC2_HUMAN;NP_003074.1 "D105E,E93K,L118V,P113S,R262C,S193L,S193W,T292P" "0,0,0,0,0,0,0,0" 6618 10035 sw451 NRP1_HUMAN V179A 0 8829 2475 sw4510;dbsnp1919;dbsnp1920 BIRC3_HUMAN;NP_001156.1;NP_892007.1 "A384V,K260R,N130T,R401K,V386M" "0,0,0,0,0" 330 4934 sw4511;dbsnp2695 BIRC2_HUMAN;NP_001157.1 "A506V,K516E,M453I,M453V,N35S,P549S,R241Q,R300H,T55A" "0,0,0,0,0,0,0,0,0" 329 4934 sw4512;dbsnp1451 PICAL_HUMAN;NP_009097.2 "A21V,A411P,F641L,H465R,I34M,Q579E,S383F,T158P,W578C" "0,0,0,0,0,0,0,0,0" 8301 4566 sw4516;dbsnp14964 MTX1_HUMAN;NP_002446.2 "G51R,K190N,K266N,L254I,M154R,R237Q,R291H,S199L,T63S" "0,0,0,0,0,0,0,0,0" 4580 7279 sw4517;dbsnp21829 NAR3_HUMAN;NP_001123488.1 "A193T,D291G,F386S,G303D,I102T,I102V,M99K,P152T,S363L,T205P" "0,0,0,0,0,0,0,0,0,0" 419 8812 sw4521;dbsnp4283 AQP6_HUMAN;NP_001643.2 "A12T,A144G,A144V,A247S,A3S,R127G,R136W,R166C,R166G,R245W,R47H,S24I,T34S,V234I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 363 11231 sw4522;spmut1609 PPR1A_HUMAN "E109G,G147D" "0,0" 5502 13523 sw4523;sws563;dbsnp25142 PRP4B_HUMAN;NP_003904.3 "A901S,G204D,H57R,H78R,I584V,I83V,K358E,Q37R,R286H,R457H,R464S,S394G,S422G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8899 2080 sw4524;dbsnp16793;dbsnp16794 SERC3_HUMAN;NP_006802.1;NP_945179.1 "A431G,D232G,P429L,T437A,V458I" "0,0,0,0,0" 10955 7143 sw4526;sws565;spmut1779;dbsnp25286 RIPK1_HUMAN;NP_003795.2 "A160T,A203S,A404S,A438V,A443V,A569V,A652V,E234K,F28L,G158S,H445Q,M547T,N52S,Q398H,S166R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8737 4358 sw4527;sws566;dbsnp26813 KCC2B_HUMAN;NP_001211.3 "E510K,S447T" "0,0" 816 4409 sw4528 KCC2G_HUMAN S36P 0 818 4409 sw4529;dbsnp22430 KCC2D_HUMAN;NP_001212.2 "D167E,Q463E,T493I" "0,0,0" 817 4409 sw4530 NDF1_HUMAN T45A 0 4760 8944 sw4532;spmut2327;dbsnp7335 ULA1_HUMAN;NP_003896.1 "H32Y,N115S,R309H,S101F,T510S" "0,0,0,0,0" 8883 6069 sw4533;spmut2120;dbsnp3820 TDG_HUMAN;NP_003202.3 "F279L,G199S,G347R,G381E,K90E,M176V,N397H,P336S,P379H,P79T,V367L,V367M" "0,0,0,0,0,0,0,0,0,0,0,0" 6996 8378 sw4534;dbsnp14873 LAPM5_HUMAN;NP_006753.1 "E240K,P135S,R126Q,R226K,R226T,R4C,R4G,T21A,T249A" "0,0,0,0,0,0,0,0,0" 7805 11644 sw4535;dbsnp1563 DGKZ_HUMAN;NP_001099010.1 "A909T,D629N,E267D,G69C,L702F,M755V,P192S,P257T,Q1109R,Q21R,R436H,S274N,S947A,T1076R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8525 1666 sw4536 IQGA2_HUMAN "D527E,I724V,K532E,L629F,N1184S,P479R,R1052I,R1379W,R714W,T894I,V455A" "0,0,0,0,0,0,0,0,0,0,0" 10788 683 sw4537;dbsnp29594 MTR1L_HUMAN;NP_004215.2 "I606V,T38I,T532A" "0,0,0" 9248 4946 sw4538;spmut2057;dbsnp2756;hgmd0613_1024 STIM1_HUMAN;NP_003147.2 "P538S,R615H,R643H,S524F,S613Y,T504M" "0,0,0,0,0,0" 6786 4215 sw4539;dbsnp23211 SEM5A_HUMAN;NP_003957.2 "A1003V,D1029N,D425V,D758Y,G859S,G932R,I497T,P533L,P551S,P600A,R280H,S293N,S792L,S956G,T267N,T27M,T27R,V246L,V321I,V360M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9037 1405 sw453;sws32;dbsnp17302;dbsnp17304 APOL1_HUMAN;NP_003652.2;NP_001130012.1 "A394G,D337N,E150K,E260K,G231R,G270D,G96R,L158F,L266R,M228I,N176S,N264K,R112C,R255K,R284H,R305Q,S365L,V353E,Y389N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8542 8308 sw4540;spmut1991;dbsnp6523 SNX1_HUMAN;NP_003090.2 S115Y 0 6642 5741 sw4541;dbsnp4142 KRR1_HUMAN;NP_008974.5 "A13S,I113V,K159R,K381R,P43S,Q293H,R134Q" "0,0,0,0,0,0,0" 11103 8952 sw4542;dbsnp2125 OR5I1_HUMAN;NP_006628.1 "C143S,C191G,F76S,I210N,I217M,I27V,L307I,L50S,M156V,P184L,P289L,R6G,S313F,V306I,Y75C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10798 9361 sw4543;dbsnp26159 OR2F1_HUMAN;NP_036501.2 "E196K,F274L,H137R,I162V,L14P,M200V,R122C,R122H,R131Q,R170S,R170T,T240M,T57A,V158M,V39M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26211 10147 sw4545;sws567;dbsnp20559 DNSL3_HUMAN;NP_004935.1 "A268G,I165M,N96K,R178H,R206C,R22K,R285K,R92W,Y261C" "0,0,0,0,0,0,0,0,0" 1776 10753 sw4546;dbsnp4158 PWP1_HUMAN;NP_008993.1 "A360V,D105G,E173D,E468K,I378V,L288F,M286T,Q159R,R34H,R456Q,R85G" "0,0,0,0,0,0,0,0,0,0,0" 11137 6636 sw4548;spmut438;dbsnp966;dbsnp967 CUL2_HUMAN;NP_003582.2;NP_001185706.1 "L338V,M335I,N109S" "0,0,0" 8453 3489 sw4549;dbsnp18665;hgmd0613_1082 CUL3_HUMAN;NP_003581.1 "D13H,D413G,K459R,R184S,R46H,V567I" "0,1,1,0,0,0" 8452 3418 sw454;dbsnp22398 HS3S1_HUMAN;NP_005105.1 "E93Q,K295R,P22T" "0,0,0" 9957 10706 sw4550;dbsnp5020 CUL4A_HUMAN;NP_001008895.1 "A335V,E201K,G607A,K644R,M101V,Q283R,R215L,R71Q,S205N,T180I,V129A" "0,0,0,0,0,0,0,0,0,0,0" 8451 2537 sw4553;dbsnp17140 DYR1A_HUMAN;NP_001387.2 "A679P,Q681H,R559H,T356A,Y415F" "0,0,0,0,0" 1859 3494 sw4555;dbsnp23803 5HT4R_HUMAN;NP_000861.1 "C372Y,G15R,M187T,R231W,S27L,T24M" "0,0,0,0,0,0" 3360 7991 sw4556;dbsnp30376;hgmd0613_713 FHL1_HUMAN;NP_001153174.1 "A316T,T313M" "0,0" 2273 10320 sw4557;dbsnp1841;hgmd0613_789 I10R1_HUMAN;NP_001549.2 "D291G,D358N,E25D,E454K,G105S,G141R,I224V,L61V,P295L,P353S,R107Q,R212Q,R261W,R351G,R412Q,R412W,S159G,S420L,T46A,T84I,V113I,V233G,V233M" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 3587 5439 sw4558 ITA7_HUMAN "A696V,I457V,L506M" "0,0,0" 3679 1477 sw4559;dbsnp18569 AAMP_HUMAN;NP_001078.2 "A88T,A88V,E53G,E71K,I250V,R185Q,S20G,S359L,V163G" "0,0,0,0,0,0,0,0,0" 14 7875 sw455;dbsnp18345 GDF8_HUMAN;NP_005250.1 "A292G,A55T,E274K,I177L,I225T,I348T,K153R,L249P,M129R,R371G,R65H,R88Q" "0,0,0,0,0,0,0,0,0,0,0,0" 2660 8442 sw4560;spmut86;dbsnp5402 ALKB1_HUMAN;NP_006011.2 "A252T,E359K,E379K,M135I,M324L,P357S,V173I,V329G" "0,0,0,0,0,0,0,0" 8846 8813 sw4564;dbsnp18234;hgmd0613_1487 MOGS_HUMAN;NP_006293.2 "D239N,D527E,E236Q,F652L,G222R,G785S,I415M,P293S,R486T,R495P,R495Q,R613Q,R708H,V673I" "0,0,0,1,0,0,0,0,1,0,0,0,0,0" 7841 2985 sw4565;dbsnp14206 AT1A4_HUMAN;NP_653300.2 "A316V,A397T,D685H,E297K,G387D,G724R,G83D,H241R,I468V,L1013F,L904Q,M541R,M586I,N368D,N482K,N538D,P232A,P600S,Q175H,R263W,R361W,R393C,T282M,T646M,V146I,V150I,V65M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 480 1921 sw4566;dbsnp20082 CD166_HUMAN;NP_001618.2 "G229D,L315M,M367I,N258S,N91S,P84L,R360S,T301M,V253M,V352M,V546I" "0,0,0,0,0,0,0,0,0,0,0" 214 5363 sw4567;dbsnp4983 TBA3C_HUMAN;NP_005992.1 "A330V,A442G,D392V,M398K,N293S,T253M,T361M,V182M,V440M,V75L" "0,0,0,0,0,0,0,0,0,0" 7278 7568 sw4569;dbsnp13780 LAMC2_HUMAN;NP_005553.2 "A111P,A200E,A546D,A796V,D136V,D247E,E66K,G278R,G421E,G599V,I440V,I447V,I839S,L679F,P595Q,P808A,R115Q,R165C,R170L,R295Q,R295W,R347H,R457C,R717Q,R857P,R857Q,R894H,S264N,S608I,S733T,S925T,T1069M,T124M,T297A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3918 1436 sw456;sws33;dbsnp28997 UN13B_HUMAN;NP_006368.3 "A773T,D1239N,D179E,D238E,E1232D,F1096L,G1223E,R1049W,R1124Q,R1524L,R1585H,R221G,R39C,R86H,S675A,T1431I,T205I,V1214I,V1578A,V763G,Y461C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10497 639 sw4570;sws570;dbsnp17373;dbsnp17374;dbsnp17375;dbsnp17376 THOC5_HUMAN;NP_001002879.1;NP_001002878.1;NP_001002877.1;NP_003669.4 "E339Q,H255R,I556V,L45V,S358G,S666N,T475S,V523M,V525I,V579I" "0,0,0,0,0,0,0,0,0,0" 8563 4245 sw4571;dbsnp174;dbsnp175;dbsnp176 NCOA4_HUMAN;NP_005428.1;NP_001138735.1;NP_001138734.1 "A483T,C350R,E298V,F154L,G441E,K447R,L561P,M187T,N248S,P474R,Q470R,R562Q,S495L,S94L,T229I,V337M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8031 4591 sw4572;dbsnp3932 APOF_HUMAN;NP_001629.1 "A178G,C100F,I311T,R113H" "0,0,0,0" 319 10240 sw4573;sws572;dbsnp29749 SHRM2_HUMAN;NP_001640.1 "A255T,A292V,A410V,A440T,A547T,A832V,A858G,A932S,A953T,D434G,D624N,D942E,G1088A,G1285V,G211S,G448R,G493V,G661S,G820R,I1475V,I821L,L1607F,L732Q,L818R,P437S,P509Q,P527L,R1070H,R1196G,R167C,R517C,R517H,R534Q,R747C,R868Q,S1425L,S713P,T137A,V75I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 357 716 sw4575;sws574;dbsnp28625 SPTN1_HUMAN;NP_003118.2 "A1428G,A1846V,A504V,I1300T,M653V,N1527S,N385S,Q1400L,Q425R,R1526H,R2435Q,R320H,S1587R,S435A,V1268A,V444I,W131R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6709 251 sw4576;spmut599;dbsnp27543 ENPP2_HUMAN;NP_001035181.1 "D404E,G57E,H596Y,N577S,P43L,P690S,R439K,R4K,R536C,R585W,R711W,R844C,R99C,R99H,S493P,S726L,T616S,V757M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5168 2526 sw4577;dbsnp14535 NOG2_HUMAN;NP_037417.1 "A342S,A486T,A676T,E185K,F633L,I412T,K200N,L224I,M32I,Q452H,R428Q,R453T,R682Q,S234C,S670L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29889 3770 sw4579;dbsnp13438 PKP1_HUMAN;NP_000290.2 "A140T,A463V,C161Y,C467R,D276Y,D377N,D388N,G415D,G541S,G81R,I196V,K151N,K260M,K260N,K699M,L295V,L338M,N182H,N524D,P424Q,R116H,R202H,R466C,R51W,R550H,R602H,R705W,Y88C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5317 3637 sw457;dbsnp14862 SH21B_HUMAN;NP_444512.2 "I36T,N122K" "0,0" 117157 14212 sw458 TR10C_HUMAN "I229T,T199N" "0,0" 8794 11717 sw4582;sws575;spmut1652;dbsnp16719 PTK6_HUMAN;NP_005966.1 "A31V,A436T,E411D,G321R,H363Y,P450L,R125Q,R243Q,R243W" "0,0,0,0,0,0,0,0,0" 5753 7574 sw4584;dbsnp24820 BYST_HUMAN;NP_004044.3 "A117V,A246T,E103K,E214D,I434V,L69F,P426S,R180Q,R368Q,R85C" "0,0,0,0,0,0,0,0,0,0" 705 7816 sw4585;dbsnp18003;dbsnp18004;dbsnp18005;dbsnp18006 C1D_HUMAN;NP_001177192.1;NP_001177194.1;NP_006324.1;NP_775269.1 "E80K,S127P" "0,0" 10438 14070 sw4586;sws578;spmut253;dbsnp3457 CAC1C_HUMAN;NP_955630.2 "A2169T,A39V,A48D,A752T,D1996N,E1948K,G37R,G402S,G406R,G490R,I1315V,I391L,K1893R,M1869V,P1868L,Q1999R,Q84R,V1755I" "0,1,0,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0" 775 330 sw4587;dbsnp11692 CAYP1_HUMAN;NP_004049.1 "A85G,A85V,D2G,F179L,G155R,P88T,R12Q,R18H,R31H,R39G,R47W,V113M" "0,0,0,0,0,0,0,0,0,0,0,0" 828 12786 sw4588;dbsnp29156 CALI_HUMAN;NP_005884.2 "C133F,E98K,I253T,N132S,N230D,R260C,R264Q,R273Q,R441W,R485W,S267N,S354Y,S75N,T232M,V14L,V14M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 881 5296 sw4589;dbsnp27842 PDE7A_HUMAN;NP_001229247.1 "G76E,P400L,R404C,R456K,S459L,T59S" "0,0,0,0,0,0" 5150 6963 sw4590;sws579;spmut275;dbsnp26010 CASP_HUMAN;NP_001904.2 "A422G,A464T,A65G,E169K,E192K,I545F,I545V,K546Q,L525V,R560Q,R560W,V99I" "0,0,0,0,0,0,0,0,0,0,0,0" 1523 805 sw4592;sws581 NFYC_HUMAN T297I 0 4802 7434 sw4593;spmut1064;dbsnp668 KGP1_HUMAN;NP_001091982.1 "A341V,H494Y,I249V,L437M,L99I,N267S,Y474F" "0,0,0,0,0,0,0" 5592 4198 sw4594;dbsnp11722 CEAM7_HUMAN;NP_008821.1 "A263V,E237K,F120I,M1R,N116D,V125F,Y236H" "0,0,0,0,0,0,0" 1087 4058 sw4596;dbsnp26335 CDK13_HUMAN;NP_003709.3 "G1032S,I1374T,I695T,L403F,P356A,Q103R,R1366H,R410Q,R700L,S340F,S624G,S676N,T494A,T500A,T670R,T727I,V1062M,V1170M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8621 810 sw4597;spmut953;dbsnp6704 IL16_HUMAN;NP_757366.2 "D258Y,D775G,H1176R,I717V,K1092N,K490R,L941R,N1147K,N172S,P1015A,P434S,R195W,R319H,R6H,R882W,R889Q,S1027T,S906L,S961G,S996L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3603 1103 sw4598;dbsnp2985 CKAP5_HUMAN;NP_001008938.1 "A23T,A969T,G886A,K491E,N846S,P1362S,S1138C,T1008I,T1914M,T773I,T821A,V93I,Y785C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9793 410 sw4599;sws582;spmut1032;dbsnp21430 KCC1A_HUMAN;NP_003647.1 "E361K,G3E,Y85C" "0,0,0" 8536 7081 sw459;dbsnp846;hgmd0613_1565 RPC1_HUMAN;NP_008986.2 "A77S,C724Y,D1094N,D372N,E1216K,E577K,F558L,G672E,G734S,I897N,I980V,K1131R,K575M,K713N,M1353V,M852V,N1269S,N775I,R1005C,R1245Q,R484W,R582H,R582L,R606T,R769W,R998H,S636Y,S936T,V1188L,V1188M,Y1022H" "0,1,0,1,0,0,1,1,0,1,0,0,0,0,0,1,0,1,1,0,0,0,0,0,0,0,1,0,0,0,0" 11128 998 sw45;dbsnp14247 TTC24_HUMAN;NP_001099139.2 "A158S,A258D,A87T,D241N,E231G,I522N,N550S,P107S,P532A,R115Q,R31Q" "0,0,0,0,0,0,0,0,0,0,0" 164118 5376 sw4600;spmut392;dbsnp7339;hgmd0613_751 CNGB1_HUMAN;NP_001288.3 "A961S,D951E,G1039R,G1163E,G238S,G884R,G993V,K911R,L147R,L479I,L700F,L745I,N731K,P1186S,P344L,P493L,R100H,R737C,R86Q,T461M,V469G,V535A,V952M" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1258 1275 sw4601;sws583;dbsnp29605 CO4A6_HUMAN;NP_001838.2 "A1255S,A1276P,A1276T,A887T,G462R,G465D,G65A,G664S,G792S,I1162V,K790N,L1362P,L728V,M97L,N1110K,N964I,P1083S,P109L,P1126S,R461L,R461Q,R560Q,R630H,R681Q,R937H,S1651N,S455A,S455P,S551G,V1117A,V886F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1288 625 sw4604;dbsnp13578 CO9A2_HUMAN;NP_001843.1 "A336E,G232S,G259S,G30R,L11F,L188M,L335V,M182V,M384L,P126T,P661L,P661T,Q326L,Q326P,Q326R,Q326W,T246M,V526M,V581I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 1298 2490 sw4605;dbsnp30079 RB33A_HUMAN;NP_004785.1 "L6V,M102T" "0,0" 9363 12179 sw4606;dbsnp28708 CYLC2_HUMAN;NP_001331.1 "A319E,A34T,A93V,D146Y,D201H,D330N,G164V,G184D,G208D,G211A,K190E,K26I,K26Q,L92V,L99I,P98T,R42Q,R71H,R71L,T297M,V303D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1539 9707 sw4607;dbsnp21679 CCNI_HUMAN;NP_006826.1 "R75G,R75W,T319S,V207I,Y334C" "0,0,0,0,0" 10983 9036 sw4609;sws584;dbsnp5597 NID2_HUMAN;NP_031387.3 "A1083V,A1235T,A483G,A789T,A865T,A878T,D313G,D756G,D765N,D837E,D886N,E1351Q,E602D,G1170A,G118R,G453D,G635V,G690V,G760V,H1327Y,H539Y,H870R,I930V,K1296R,M1155I,N1124S,N202D,P1034T,P22Q,P240S,P354H,P413L,P529S,P759L,Q793H,R1152W,R1197H,R493K,R493T,R628H,R699C,R775Q,R811C,R830Q,R866Q,R866W,R957Q,S250T,S431L,S656P,S936R,T462M,T475I,T567M,T632A,V350M,V547M,V726M,V77L,Y1367H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22795 1022 sw460;dbsnp25134 TAAR5_HUMAN;NP_003958.2 "A40D,D114V,L195M,L39P,R132C,R313Q,R330C,R330H,S95P,T115N,T272M,T67M,V87L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9038 9962 sw4610;dbsnp12832 LRP8_HUMAN;NP_004622.2 "D353H,D46E,I356T,I356V,I611L,M725R,P798L,Q25R,Q607R,R300H,R551Q,R656W,R736Q,R952Q,S653T,T137P,T744M,T805S,V453M,W466C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7804 2263 sw4612;spmut454 DAG1_HUMAN "S14W,T192M" "0,1" 1605 2635 sw4614;dbsnp17699 DGCR6_HUMAN;NP_005666.2 "A117V,L115I,L115V,P217A,R131H,R147Q" "0,0,0,0,0,0" 8214 12527 sw4616;dbsnp28693;dbsnp28694;dbsnp28695 TRI14_HUMAN;NP_150089.1;NP_055603.2;NP_150088.1 "Q138R,S234N,T225M,V208A,V208I,V219M" "0,0,0,0,0,0" 9830 7721 sw4617;sws586;spmut1062;dbsnp12719;dbsnp12720 KEAP1_HUMAN;NP_987096.1;NP_036421.2 "D236H,D349N,G333C,G350S,G364C,P412S,Q284L,R15Q,V167F,V369A" "0,0,0,0,1,0,1,0,1,0" 9817 4855 sw4618;dbsnp14062 URB2_HUMAN;NP_055592.2 "A134T,A199T,E1125K,E1440A,E594V,G1320R,I416M,I66V,I743V,K681I,K858E,K858Q,L583V,L648F,M576I,M847L,P593S,R1111C,R1111H,R1306L,R1408Q,S1492L,S156L,S492L,S642L,T1003M,T218M,T268R,V1400M,V281M,V778G,Y913C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9816 796 sw4619;dbsnp11763 DHX34_HUMAN;NP_055496.2 "A127V,A347V,A416T,A470D,A622T,A817T,A837T,A941E,A941V,E274Q,G117D,G747D,G807S,H404Y,I576V,K251N,L946F,N288K,P300R,P86S,R1000Q,R1083C,R13Q,R151H,R159Q,R170C,R17W,R632W,R669C,R670W,R734C,R919H,R949C,R956W,S1060R,S624R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9704 1569 sw4620;dbsnp46 EIF3A_HUMAN;NP_003741.1 "A531G,D984E,D984N,D993E,E386K,K694N,K777Q,L744V,M1042L,P1327S,P267L,Q769E,R1046W,R803K,R939H,R986W,S1262A,T189M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8661 1013 sw4621;dbsnp23041;dbsnp23042 DELE_HUMAN;NP_055588.3;NP_001136075.1 "A247T,A338V,A95T,E159K,E159Q,F128L,G54D,G60D,K223E,P192S,R161T,R295G,R468C,S235P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9812 6391 sw4622;dbsnp27429 EFR3A_HUMAN;NP_055952.2 "E566G,G358R,G801E,I197M,I625V,I665V,I786V,K265N,N365D,P715S,S675G,S680P" "0,0,0,0,0,0,0,0,0,0,0,0" 23167 3084 sw4623;dbsnp15707 UBP2L_HUMAN;NP_055662.3 "A642V,Q482H,V414A" "0,0,0" 9898 1761 sw4624;spmut1885 SCRIB_HUMAN P454S 1 23513 685 sw4625;dbsnp3385 GIT2_HUMAN;NP_476510.1 "A552V,D124E,F430L,N338S,N387S,R412W,S706N,V438E,V678I" "0,0,0,0,0,0,0,0,0" 9815 3525 sw4626;dbsnp8988 SREC_HUMAN;NP_003684.2 "A425V,A537T,A599V,A720V,D533N,E304K,E307K,E639D,G316E,G626S,G667S,G748V,K617T,P273L,P565L,P828L,R618K,R662W,R738Q,R812K,S373T,S611R,V821A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8578 3033 sw4627;spmut952;dbsnp14009 IKKE_HUMAN;NP_054721.1 "A371T,A602V,D532Y,E128K,E515D,G660E,I543M,L465F,P713L,R187Q,R252Q,R80W,T483M,V418M,V449M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9641 3906 sw4628;dbsnp17324 TTL12_HUMAN;NP_055955.1 "D573N,D633E,F542L,H130Q,K289Q,L109V,N95S,R144H,R389Q,R597Q,R84W,S402C,T183A,T319I,V297L,V297M,V464L,V464M,Y488C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23170 4650 sw4629;dbsnp1395 DPOA2_HUMAN;NP_002680.2 "G583R,H430Y,I502F,K26R,S588N,V389M" "0,0,0,0,0,0" 23649 5155 sw462;dbsnp13509 CAN9_HUMAN;NP_006606.1 "A102V,A104T,A239T,A479V,A525D,A531T,A661G,D164N,E342K,E582K,E643D,F131I,G287R,H254R,H327Q,I234T,I251T,K322Q,L416R,M573I,M611I,R156S,R277W,R368L,R458W,R522W,S122R,S395G,T352M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10753 3796 sw4630;dbsnp7454 DOC2A_HUMAN;NP_003577.2 "E364K,G48S,K207Q,K312T,P376L" "0,0,0,0,0" 8448 4129 sw4631 DOC2B_HUMAN R209L 1 8447 4129 sw4632 DOCK1_HUMAN A1793T 0 1793 511 sw4633;dbsnp5247 TFDP1_HUMAN;NP_009042.1 "A243V,D401N,Q53H,R209S,V334M" "0,0,0,0,0" 7027 7654 sw4634;dbsnp20865 TFDP2_HUMAN;NP_001171610.1 "I64T,P81S,Q263R,R227W" "0,0,0,0" 7029 7654 sw4635;spmut1943;dbsnp16985 SIM2_HUMAN;NP_005060.1 "A565S,A63V,A70T,D134N,E334K,G65E,H143P,H143R,L483M,T141M,V76D" "0,0,0,0,0,0,0,0,0,0,0" 6493 3467 sw4637;dbsnp19337;dbsnp19338;dbsnp19339;dbsnp19340 FHL2_HUMAN;NP_001441.4;NP_001034581.1;NP_963849.1;NP_963851.2 "A37S,D274N,K167M,R113C,R177Q,V29M" "0,0,0,0,0,0" 2274 11201 sw4638;dbsnp22392 DPYL1_HUMAN;NP_001304.1 "G147R,G147S,I546L,K270E,M215I,S442F,V461I,V482I" "0,0,0,0,0,0,0,0" 1400 4210 sw463;sws35;spmut1753;dbsnp23685 RGRF2_HUMAN;NP_008840.1 "A1209T,A127T,A775V,G791S,L713W,S753P,S839Y,T801M,T900A,V811A,Y861H" "0,0,0,0,0,0,0,0,0,0,0" 5924 1221 sw4640;spmut935;dbsnp9130 ICT1_HUMAN;NP_001536.1 "E171D,G86S,L77F,R141H,R141S,R155Q,R8L,R8P,T122M" "0,0,0,0,0,0,0,0,0" 3396 12827 sw4642;dbsnp5837;hgmd0613_762 DYHC1_HUMAN;NP_001367.2 "A1765V,C4556Y,D1991N,D3902N,E1518K,H306R,H3822P,H4029Q,I153V,I584L,K2401N,K671E,L3508I,P3922L,P4470S,R2398C,T3981R,V137I,V1750M,V1787A,V2660G,V959I,Y970C" "0,0,0,0,1,1,1,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,1" 1778 46 sw4643;dbsnp1821 NPAT_HUMAN;NP_002510.2 "D1067N,G1194C,I295L,I483L,I744F,K1353N,L1036I,L399M,L540F,L973V,M810T,N1216D,N999K,P1046L,P1123S,Q1191R,Q596R,Q967E,R112Q,S1386C,T816A,V447M,V575I,V608A,V621I,V987A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4863 943 sw4644;dbsnp13541 E2F2_HUMAN;NP_004082.1 "D338N,D427N,F403C,G205R,P310L,Q226H,R203I,S33G,T202I,T265I" "0,0,0,0,0,0,0,0,0,0" 1870 7817 sw4645;dbsnp27577 LY6D_HUMAN;NP_003686.1 "A100T,A105T,A10T,L96P,V37I" "0,0,0,0,0" 8581 14277 sw4646;dbsnp10720 IL27B_HUMAN;NP_005746.2 "A174V,P51L,T222S,V201I" "0,0,0,0" 10148 12336 sw4648;sws589;dbsnp20259 IF4A2_HUMAN;NP_001958.2 "N281K,Q76R,Q93H" "0,0,0" 1974 8362 sw4649;dbsnp13029 ELOA1_HUMAN;NP_003189.2 "A45T,A516V,A714T,E112G,E548A,E647K,H275Y,I739V,K326R,L162P,L406S,N314D,P124H,P309L,R279H,S731G,T145M,T452I,V324I,V624A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6924 3223 sw464;spmut1880;dbsnp13395 SCAM3_HUMAN;NP_005689.2 "D6N,I239N,L38R,P55A,P55S,R131Q,V235A,V242D" "0,0,0,0,0,0,0,0" 10067 9728 sw4650;spmut1890;dbsnp3677 SELPL_HUMAN;NP_002997.2 "A205E,A205P,A208G,H350R,L329Q,M199L,M209L,M209T,M274V,M62I,P136L,P215A,P216S,P246S,P255T,P390L,Q135P,R347H,R38Q,R40W,S273F,T104M,T157M,T264A,T278I,V137A,V305I,V354M,Y307H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6404 7986 sw4651;dbsnp24686 MAP7_HUMAN;NP_003971.1 "A615T,D675N,E537K,G341D,H102P,I257N,M429T,P279T,P649L,R128Q,R159H,R326C,R328Q,R488Q,R518S,R526P,R558W,R94Q,S200C,S435L,T646R,T673P,V361I,V361L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9053 3375 sw4652;dbsnp10871 EMR1_HUMAN;NP_001965.3 "A298V,A57T,A669V,C130R,C197S,D174N,E184D,F691C,G463E,G92R,I424V,I539V,I621V,K496Q,M663T,N254S,P721L,P880T,R2L,R628C,R852Q,S140R,S241C,T368M,T389M,T398M,T885M,V121I,V589I,V724L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2015 2687 sw4653;dbsnp29264 NUCG_HUMAN;NP_004426.2 "R184H,R245L,S12L,S185R,T246I,V195I" "0,0,0,0,0,0" 2021 10927 sw4654;dbsnp9124 FLOT2_HUMAN;NP_004466.2 "A328T,E196D,T170M,V75G" "0,0,0,0" 2319 7981 sw4655;spmut2213;dbsnp8602 TRI25_HUMAN;NP_005073.2 "A189V,A254T,D595N,K184E,P358L,P409Q,R315Q,S376F,S428R,T185A,V89G" "0,0,0,0,0,0,0,0,0,0,0" 7706 4798 sw4656;dbsnp26423 ENR1_HUMAN;NP_001007254.2 "C192Y,D167G,G472R,G566R,I475T,L522P,N481S,N569S,R252G,T90I,Y236C" "0,0,0,0,0,0,0,0,0,0,0" 2086 5091 sw4657;spmut663;dbsnp27377;dbsnp27378;dbsnp27379 FAK2_HUMAN;NP_004094.3;NP_775268.1;NP_775266.1 "A864V,A890V,D100N,D607N,E970K,G326V,G414E,G414V,K838T,L808P,Q359E,R10Q,R388Q,R429H,R698H,T264N,T65M,V527M,V546M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2185 2071 sw4658;sws590;dbsnp26242 FASTK_HUMAN;NP_006703.1 "A436V,V58I" "0,0" 10922 5852 sw4659;dbsnp26172 FGL2_HUMAN;NP_006673.1 "G53E,S91I" "0,0" 10875 7784 sw465;dbsnp29662 PPE1_HUMAN;NP_006231.2 "E130A,F635I,G366D,G443S,I273V,K367T,M469I,M91L,N225S,T313M" "0,0,0,0,0,0,0,0,0,0" 5475 4554 sw4660;spmut707;dbsnp26253;hgmd0613_776 FLNC_HUMAN;NP_001449.3 "A1318V,A193T,A2537T,D1580G,D693A,E1128K,E1663D,E534K,G1760S,G2094R,G505A,G507R,K2135R,K2637Q,M251T,N390S,R1159Q,R1241C,R1567Q,R1860C,R2203P,R526Q,S2626N,T1599A,V452M" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 2318 186 sw4662;dbsnp10806 MYPC2_HUMAN;NP_004524.3 "A179S,A446T,A553V,A629T,D282N,E29K,E551D,G514S,G52S,M663T,R1089H,R1089P,R1121W,R387Q,T171M,V341I,V489I,V624I,V72M,W471C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4606 1580 sw4663;dbsnp22083 FRG1_HUMAN;NP_004468.1 "A148D,D193N,D218E,D227Y,E38K,I132T,K66E,K66R,L14F,L231P,P195Q,R106S,R128C,T19A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2483 11742 sw4664;spmut779;dbsnp8782 GNA13_HUMAN;NP_006563.2 "E138Q,I149V,T365S,V141I,V221L" "0,0,0,0,0" 10672 8951 sw4667;dbsnp17528 GGTL2_HUMAN;NP_954578.2 "A12S,A38T,D17H,D75N,E70G,G35W,P32L,P67L,R146Q,R152Q,T112M,T31M,V33D,V64I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91227 5509 sw4668;dbsnp2734;dbsnp2735 LRC32_HUMAN;NP_001122394.1;NP_005503.1 "A10D,A407P,A407T,A460S,C648S,E231K,E231Q,E470G,G311A,L223V,L473V,L7M,Q659P,R125H,R358C,R446C,R518Q,R518W,S603T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2615 4458 sw4669;spmut748 GAS6_HUMAN "F41L,R659Q,S231Y" "0,0,0" 2621 3869 sw466;dbsnp22139 PPE2_HUMAN;NP_006230.2 "C102R,E172K,E412K,F93C,I51L,M481L,R118C,R118S,R249P,R36H,R388Q,R553K,R608L,R639H,R86C,R86H,S120R,S575C,T168I,V394L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5470 3583 sw4670 GCKR_HUMAN "G256S,P446L" "0,0" 2646 4844 sw4671;dbsnp9097 CSHL_HUMAN;NP_072101.1 "A14G,A186T,A3P,A3T,D141E,E96K,F83L,H108R,M210I,R117W,R214C,R45G,S92P,T127I,T129A,V211M,V27I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1444 11791 sw4673;dbsnp1685 CAPR1_HUMAN;NP_005889.3 "A263D,N606S,Q588H,R616H" "0,0,0,0" 4076 3981 sw4674;spmut803;dbsnp19069 GRB14_HUMAN;NP_004481.2 "A422V,F152S,F90I,G217V,H507Y,I144T,I158T,I164V,I454F,K408R,N374K,P301A,P367S,S114I,T129R" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 2888 5203 sw4675;dbsnp9627 BECN1_HUMAN;NP_003757.1 "A103V,E220K,I403T,Q258H" "0,0,0,0" 8678 7588 sw4676;dbsnp10112 NF2L1_HUMAN;NP_003195.1 "D63H,E334G,G303R,R684H,R731G,S497T" "0,0,0,0,0,0" 4779 3431 sw4677 RBM39_HUMAN A2V 0 9584 6126 sw4678;dbsnp8850 IRK12_HUMAN;NP_066292.2 "A185V,A230T,A28T,A3V,A58T,C123F,D173N,D252N,D402E,E139K,E239K,E289Q,E378K,E380K,E430G,E56A,F263L,F281L,G110V,G145S,G32R,I100V,I249V,I262S,L211F,M302I,M71I,N33K,P156L,P245L,Q192H,R118Q,R149C,R261H,R285W,R313C,R356C,R356H,R39Q,R40H,R43H,R45C,R6Q,S15L,S266L,S343L,S371R,S405I,T142N,T290M,T354M,V159I,V297I,V36L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3768 7681 sw4679;dbsnp6045 EP3A_HUMAN;NP_006674.2 "A79S,E32Q,G62C,G62S,R78H,S3T,V129I,V133I" "0,0,0,0,0,0,0,0" 10876 13971 sw4680;dbsnp24924 CASL_HUMAN;NP_006394.1 "A271S,D178N,E331K,G374S,G439R,G582S,H504R,H565R,K174N,L556I,P136Q,P226L,P304L,Q706H,R415W,R487Q,T577M,Y223C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4739 3008 sw4681;dbsnp21702;dbsnp21703 SPRL1_HUMAN;NP_004675.3;NP_001121782.1 "A49D,D575E,E297D,E400Q,E50G,G189R,G328S,G507R,H106D,H172R,I305M,I383T,P129R,S179T,T119I,T34M,T350N,T419A,V253E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8404 4434 sw4682;dbsnp21737 FAT1_HUMAN;NP_005236.2 "A131V,A1564T,A3739V,A636T,D1060H,D2274E,D2905N,D4129N,D4218G,D4497N,E1141D,F1186S,F614L,G19A,H1273R,H809R,H891D,I2718V,K4059N,L4348I,M1149T,M2845I,M3586T,N126D,N1330S,N1605D,N1662S,N4134S,N4492S,P1614L,P3800H,Q2933L,Q2933P,R1064G,R1268Q,R1795Q,R2567H,R26Q,S1168L,S1909N,S2338R,S2806N,S3554A,S404R,T1585M,T2002P,T2369P,T3623M,V1079I,V129L,V2089I,V3147G,V3334A,V3719M,V482I,V679I,V862L,V912I,Y1250C,Y3949C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2195 48 sw4683;dbsnp575 HABP2_HUMAN;NP_004123.1 "A251V,A329T,A329V,E236K,E393Q,F546S,G460A,G519S,G534E,I407S,I492N,L29V,R122L,R122W,R167W,S166F,S277L,S300F,S32I,T143A,T321M,V281I,V90I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3026 5681 sw4685;spmut871;dbsnp10235 HIC1_HUMAN;NP_001091672.1 "P370A,P646S,R725G" "0,0,0" 3090 3757 sw4686;dbsnp20305;dbsnp20306 HLTF_HUMAN;NP_620636.1;NP_003062.2 "A427V,D269G,E362Q,G730D,I435T,I762V,I804T,K824T,L318P,N311S,P814S,R376H,R819H,S378A,S378T,T900S,V419I,Y195C,Y332C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6596 2072 sw4687;dbsnp8801 K1H2_HUMAN;NP_002269.3 "A255T,D371E,E151D,G28S,G28V,I171T,L124M,M438T,N402S,P258L,P427L,P427T,Q72R,R20W,R280C,R280H,R317C,R317H,R369Q,R397Q,R428C,R57W,S222Y,S49L,T321M,T339M,T395M,T419I,T99I,V283M,V385I,V426M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3882 7606 sw4690;spmut1860;dbsnp2301 S29A2_HUMAN;NP_001523.2 "D5Y,L176I,N68K,P94L,R52G,V208L" "0,0,0,0,0,0" 3177 7464 sw4691;dbsnp26469 GBX1_HUMAN;NP_001092304.1 "A194T,K237R" "0,0" 2636 9338 sw4692;dbsnp19917 PDIA5_HUMAN;NP_006801.1 "A342D,A365T,A440G,A469T,A73E,A73G,A73V,C231S,C456W,H428L,K129E,M379I,P303A,T391M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10954 6326 sw4693;spmut507;dbsnp9648 DHX8_HUMAN;NP_004932.1 "A1069G,K147R,N308S,R1218L,R176Q,R200Q,R207Q,R209H,V1017I,V71I" "0,0,0,0,0,0,0,0,0,0" 1659 1358 sw4695;spmut1200;dbsnp18621 MCM6_HUMAN;NP_005906.2 "E35V,E806K,G679D,I506V,N361S,Q237E,Q48E,R189K,R217Q,R222C,R55S,R92Q,R92W,S40R,T259I,T357I,V226I,V734M,Y805C,Y810H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4175 3085 sw4696 HS902_HUMAN "C312Y,T235A" "0,0" 3324 2876 sw4697;dbsnp3702 ITPR2_HUMAN;NP_002214.2 "A1898V,A453V,E1143D,M1570V,R1180Q,R988K,S2045C,V1419I,Y1392H" "0,0,0,0,0,0,0,0,0" 3709 193 sw4698;dbsnp24625 ITPR3_HUMAN;NP_002215.2 "A1101V,C1738Y,D1338E,D742E,E1456K,E2398Q,G1029V,G530R,I1591T,I1710L,I2503T,I407V,K2530E,L1552V,L2436V,L374W,N980K,R1819H,R1850Q,R1857C,R2606Q,R527C,R667Q,R915L,T1463P,T695M,V1071F,V1172I,V1937I,V2295M,Y1842H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3710 197 sw4699;dbsnp10289 DSC3_HUMAN;NP_001932.2 "A223V,A28D,A441V,D312E,E499K,G492S,G830S,K180Q,N239S,N629K,P273L,P469L,P740S,Q476L,R102K,R199W,R279H,R27S,S120L,S78T,S803C,S803F,T894A,V303I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1825 2609 sw469;dbsnp27686 OPLA_HUMAN;NP_060040.1 "A879V,A900V,G584C,L347V,M268L,R31Q,R400H,R459C,R501Q,R581C,R658L,R924C,S284R,V340I,V545M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26873 1185 sw46;dbsnp18401 DYTN_HUMAN;NP_001087199.1 "A305V,E203V,L287P,M535T,P122R,Q474K,S143A,T157I,Y241C" "0,0,0,0,0,0,0,0,0" 391475 5438 sw4700;dbsnp12447 ZN266_HUMAN;NP_006622.2 "C92G,D356E,G84E,H195R,M287T,N364Y,P519L,R202H,V80I,Y296H" "0,0,0,0,0,0,0,0,0,0" 10781 3551 sw4701 ZN267_HUMAN "C350Y,M257V" "0,0" 10308 3674 sw4702;dbsnp4038;dbsnp4042 ZN268_HUMAN;NP_001159353.1;NP_003406.1 "A176P,C418Y,C530Y,C726F,H942D,L851F,M141L,R18Q,R56H,S791R,T175M,T297S,T587A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10795 2356 sw4703;dbsnp11439;dbsnp11440 ZN234_HUMAN;NP_006621.1;NP_001138296.1 "C324R,G602E,L130F,R123Q,V16I,V208M" "0,0,0,0,0,0" 10780 4016 sw4704;dbsnp11301 ZN235_HUMAN;NP_004225.3 "D714V,E170Q,G305C,H296P,H393D,H49Y,I256S,M87V,Q142E,Q283H,R313C,S104P,S379G,T594N,T684M,T89S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9310 2540 sw4705;dbsnp26134 ZN273_HUMAN;NP_066971.2 "A153V,E461D,G268D,G454E,H256N,H308R,K282N,N248Y,S274Y,S440R,T341A,V441A" "0,0,0,0,0,0,0,0,0,0,0,0" 10793 1203 sw4706;spmut1319;dbsnp8548;dbsnp8549;dbsnp8550 NBR1_HUMAN;NP_005890.2;NP_114064.1;NP_114068.1 "A112V,A919S,D584Y,E716D,H923R,M623V,M921T,R312H,R857K,T127N" "0,0,0,0,0,0,0,0,0,0" 4077 2255 sw4708;dbsnp20348 ITIH4_HUMAN;NP_002209.2 "A108V,A342V,C10G,G249R,G418S,G893S,I85N,I86N,L791P,M714I,N311T,P698T,P919L,Q669L,R689H,R745W,R753H,R910H,S220C,V118I,V402M,V421I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3700 2430 sw4709;dbsnp28979 I11RA_HUMAN;NP_001136256.1 "G231D,G231V,P221R,P65T,R179C,R261H,R296W,R395W,R416C,S245C,S43F" "0,0,1,0,0,0,1,0,0,1,0" 3590 8103 sw4710;dbsnp30164 I13R2_HUMAN;NP_000631.1 "I276T,W111R" "0,0" 3598 8975 sw4711;dbsnp179 I5P1_HUMAN;NP_005530.3 "A131T,A131V,D274N,E149Q,K45R,R221Q,R334C,S322L" "0,0,0,0,0,0,0,0" 3632 8335 sw4713;dbsnp21166;dbsnp21167;dbsnp21168 PLSI_HUMAN;NP_001138791.1;NP_001165783.1;NP_002661.2 "D322H,D322N,D343V,I146M,Q528E,R402Q,S216L,S245P,V236A,V526I" "0,0,0,0,0,0,0,0,0,0" 5357 4804 sw4714;spmut987;dbsnp10753 IRF3_HUMAN;NP_001562.1 "A277T,A379T,D154H,E377K,I220S,I220T,R194Q,R380Q,R96Q,S427T,T75A,V363M,Y107F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3661 7562 sw4715 IRK11_HUMAN "A18G,E10K,E23K,I148S,L355P,S385C" "0,0,0,0,1,0" 3767 8050 sw4716;dbsnp29797 TM187_HUMAN;NP_003483.1 "A156T,E42K,M78V,R138Q,S70L,V21M,V33L,W5S" "0,0,0,0,0,0,0,0" 8269 11673 sw4717;dbsnp9222 K0100_HUMAN;NP_055495.2 "A329V,A694G,A936S,C1561Y,C207R,D833A,F1091L,G114V,G1555D,G435E,H1174Y,H1266R,H137Q,H986Q,K555R,L1007V,L3V,L838P,M676L,N1018S,N1306S,P1514S,P725A,P725L,P725T,R1037C,R1663H,R2060G,R215W,R36Q,R940C,R951H,S1294N,S424F,T1508A,T226I,V1516G,V288M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9703 323 sw4718;spmut637;dbsnp3475 ESPL1_HUMAN;NP_036423.4 "A1152T,A116V,A1462T,A1514T,A1653T,A1671V,A25D,A464V,G1234S,G1337V,G1342R,G1453D,G1510R,G1685C,H1078N,H1078R,I1136V,I1488M,K1435M,L1277V,L80V,L862M,M693I,N918S,Q1237H,Q724E,R1320C,R1329S,R1479G,R1561Q,R2037H,R236T,R596Q,R699Q,S1399N,S1564P,S39N,S466G,S614R,T1157A,T2073M,V1164G,V1383L,V1721M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9700 368 sw4719;spmut1207;dbsnp24680 MDC1_HUMAN;NP_055456.2 "A1500T,A1734T,A333V,D134N,D1667E,D1855E,D403H,D403N,E1024V,E1509D,E1536A,E1536V,E251K,E371K,F214L,G532E,G787R,H131Y,I426T,I536M,L1207P,L2060F,M1316T,N1233S,P1100A,P1125H,P1177S,P1283T,P1346L,P1494L,P1718L,P1745R,P1776S,P1873A,P386L,P530L,P69S,Q1185K,Q1545R,Q738R,R1019G,R1079C,R1079H,R1299Q,R1513Q,R1554W,R1644S,R179C,R179G,R1883Q,R1904Q,R1943Q,R1994S,R2054Q,R268K,R33W,R842S,R917S,S1112F,S1180P,S1358T,S1540P,S1915C,S533L,S586A,T1201P,T1664S,T2089N,T341A,V111M,V1186A,V1465L,V1791E,Y1266S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9656 383 sw471;dbsnp12451 FFAR3_HUMAN;NP_005295.1 "A256V,A49T,D158N,G133D,G212R,L227V,L31V,M307V,N77S,Q44R,Q7H,R126Q,R174W,R206C,R206H,R322L,R45C,R45H,S254C,S346N,V223L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2865 9758 sw4720;spmut1023;dbsnp28458;dbsnp28459;dbsnp28461 KANK1_HUMAN;NP_001243806.1;NP_001243805.1;NP_055973.2 "A1255T,A1258S,A654D,A664V,A942D,A990T,C551W,D50V,D824G,E1276K,E432Q,E587G,E601K,G1294S,G789V,G860A,G896R,H210Q,I1055T,I1216T,I18V,K1314R,K321R,K453E,K6E,K832N,M506T,M663T,N1156S,N1293S,N206K,N697S,N901S,N96S,P1332L,P142L,P553R,P69L,Q211H,Q552R,R1044W,R1124H,R1152C,R363M,R368Q,R420S,R667H,R66K,R67Q,S198F,S464A,S879P,T116A,T171A,T673S,T688M,T968I,V286E,V413I,V534M,V639I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23189 1064 sw4721;dbsnp18400 TTLL4_HUMAN;NP_055455.3 "A1196D,A290T,A345P,A852S,D1005G,E34Q,E898K,G518S,H914R,I1190F,L1126F,L364P,N17S,N464S,N582S,N803S,P435T,Q386H,Q47H,R1037C,R119C,R120C,R378W,R418H,R707H,R882Q,S1083A,S138L,S199P,S395L,S524G,S950R,T1138I,T228M,T298A,T511I,V1064E,V1101M,V570I,V583I,Y213C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9654 1422 sw4722;sws592;spmut1215;dbsnp29148 MELK_HUMAN;NP_055606.1 "A550T,I581V,K219R,K26R,K545I,M195I,M254V,Q181K,R333K,T348I,T56M,V540A" "0,0,0,0,0,0,0,0,0,0,0,0" 9833 4581 sw4724;sws593;dbsnp16422 NCOA6_HUMAN;NP_054790.2 "A1130T,A163V,A1929T,A524G,F52L,G848S,H1561Y,H371Q,I1439T,I1995V,M1631V,N200S,N955S,P1262L,P1862L,P186S,P239R,P512L,P526L,P740A,Q86R,S1123T,S1171L,S1913N,S1913T,T1402A,T1618A,T1627A,T1978A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23054 393 sw4725;sws594;dbsnp7581 GSE1_HUMAN;NP_055430.1 "A580T,D1108E,D912H,E1138D,E770V,E953K,E978K,G42S,G444S,H6Y,L185V,L326F,L404V,L675M,L693I,M267L,P1003L,P1075S,P170A,P238S,P656L,Q805H,R1153Q,R558H,R816K,R836Q,R956Q,S429L,V1129I,V936A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23199 1367 sw4726;dbsnp17062 DIP2A_HUMAN;NP_055966.2 "E213K,G697S,I1137T,I428T,P191A,P333L,P798L,P931S,R285C,R602Q,S174P,S372N" "0,0,0,0,0,0,0,0,0,0,0,0" 23181 757 sw4727;dbsnp14 RRP5_HUMAN;NP_055791.1 "A1465V,A1584V,A1741V,A623S,A780S,D1816G,D1871A,E1578D,E699K,F1767S,G157R,H1359N,I733T,K1102E,K1524Q,K1829R,K1857R,K45E,K646E,L1216F,L1621V,M1804V,N104S,P1453S,P541S,R1175Q,R1610L,R436Q,S397N,T1012S,T1089I,T1514M,T1787M,T264M,T305M,T320I,V1292I,V307M,V334I,V596I,V596L,V899A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22984 509 sw4728;dbsnp16450 PSF1_HUMAN;NP_066545.3 "E35G,M36V,R83C,V97I" "0,0,0,0" 9837 13052 sw4729;dbsnp75 BMS1_HUMAN;NP_055568.3 "A214V,A729S,A864T,D397V,D768N,E1052D,E591K,F106L,F1237L,G781C,G781S,H1218R,I537F,I537V,I942V,I943V,K652R,K674E,M261V,M884V,N799S,P246L,P254L,Q363R,Q419E,R1007Q,R1068K,R1130Q,R1130W,R237H,R38W,R863H,S552P,V1141I,V587L,Y283C,Y905F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9790 1200 sw472;spmut67;dbsnp13745 AIM2_HUMAN;NP_004824.1 "C304Y,E186D,E32K,I8M,K126E,T262R" "0,0,0,0,0,0" 9447 9830 sw4731;spmut2287;dbsnp7490 UBP10_HUMAN;NP_005144.2 "M200V,P227S,P371H,S203P,T297R,V204L" "0,0,0,0,0,0" 9100 3224 sw4732 K0087_HUMAN S85N 0 9808 14119 sw4733;spmut746;dbsnp1675 GANAB_HUMAN;NP_938148.1 "H850Y,L453R,L74F,M594V,N306S,N420S,P552L,R11K,R11T,R154W,R173Q,R309C,R400C,R461W,R863H,R914H,T75A,V467I,V88M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23193 2256 sw4734;spmut1746;dbsnp20854 RFTN1_HUMAN;NP_055965.1 "A193T,D259G,E248K,E37K,E507G,E577G,L132F,P135L,R460M,S171L,S486Y,V159I,V421I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23180 5440 sw4735;dbsnp8044 MBTP1_HUMAN;NP_003782.1 "D799G,D984N,E81G,G981S,I6T,I833V,K27T,N148S,N281H,N544S,R130Q,R160C,R24K,R887H,R907W,R90G,S550C,S550F,S954C,V145I,V821L,Y54C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8720 1886 sw4736;dbsnp4236 SSPN_HUMAN;NP_005077.2 "F176L,S186N,T134M,T234M,V228I" "0,0,0,0,0" 8082 12050 sw4739;dbsnp14244 COG2_HUMAN;NP_031383.1 "E258K,I346V,I534N,K125E,L158Q,L463F,N270S,N304K,R288H,R510C,T511S,V589I" "0,0,0,0,0,0,0,0,0,0,0,0" 22796 3719 sw473;dbsnp17131;dbsnp17132 BACH1_HUMAN;NP_996749.1;NP_001177.1 "A285T,C270G,C472Y,D201E,D201Y,D409G,E243D,G471A,I440V,I464M,I498F,M210L,S314P,S4N,T301A,V51M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 571 3734 sw4741;dbsnp2822 PTCA_HUMAN;NP_005599.1 "A119T,A73V,G128E,R146Q,R146W,T155M" "0,0,0,0,0,0" 5790 12828 sw4742;dbsnp7661;dbsnp7662 MVP_HUMAN;NP_059447.2;NP_005106.2 "D262H,D262N,D885G,G865V,R154Q,R233W,R27H,R300C,R300G,R456C,R507C,R56C,R623W,R651Q,R766Q,R84C,R893C,V53I,V635I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9961 2647 sw4743;sws596;dbsnp18618;dbsnp18619 STAT4_HUMAN;NP_003142.1;NP_001230764.1 "E128V,I115V,L269I,R240Q,R584W,T446I" "0,0,0,0,0,0" 6775 3626 sw4746;dbsnp13868 HLX_HUMAN;NP_068777.1 "A235V,A387G,P356L,Q125H,R393Q,S116P,S397R,T404I" "0,0,0,0,0,0,0,0" 3142 6868 sw4747;dbsnp9801 CBX2_HUMAN;NP_005180.1 "A452V,K283N,L193M,P471A,P98L,R443P,S411T" "0,0,0,0,1,1,0" 84733 6098 sw4748;sws597;dbsnp20140 GOGB1_HUMAN;NP_004478.3 "A2218G,A2218V,A244T,A2769V,A3102V,A851S,C1462R,C1713F,D3036G,D3162V,D952G,E1265A,E1272G,E2039A,E2051Q,E2157V,E572K,G1765D,H2259R,H35Y,I1238T,I2490V,K137R,K1677R,K2060R,K2449R,L382F,L510V,L848F,L931H,N3145S,N792S,P1160L,P1249S,Q117K,Q2458R,Q961R,R1187H,R1214P,R1987Q,R2149C,R2475H,R2587Q,R3077H,R3227H,S1355N,S1802P,T1276I,T1329A,T1517I,T3209I,T3209R,T387A,T831N,T911S,V328A,V561I,Y1212C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2804 116 sw4749;spmut273;dbsnp18179 CASP8_HUMAN;NP_203519.1 "D285H,I144M,I298V,K148R,R248W,S186R,S219A,S219T" "0,0,0,0,1,0,0,0" 841 6024 sw474;dbsnp13468;hgmd0613_1220 MGST3_HUMAN;NP_004519.1 "G15C,P48S" "0,0" 4259 13876 sw4750;dbsnp11816 ZN846_HUMAN;NP_001071092.1 "A346T,C450Y,H356L,H412L,R330P,R330Q,R461H,R461P,Y492C" "0,0,0,0,0,0,0,0,0" 162993 4677 sw4751;dbsnp20809 CC043_HUMAN;NP_001071125.1 "H20Y,M71T,R64W,V186M,V99A" "0,0,0,0,0" 255798 12649 sw4752;dbsnp12170;dbsnp12174 FXYD3_HUMAN;NP_001129483.1;NP_005962.1 "A45T,G40S,K3R,N27S" "0,0,0,0" 5349 14033 sw4753;dbsnp8298;hgmd0613_1591 KIF22_HUMAN;NP_015556.1 "A58V,D447N,D594N,I33T,P148L,P148S,R149L,R149Q,R149W,R232Q,R317C,R350C,R466Q,S357T,S377I" "0,0,0,0,1,1,1,1,0,0,0,0,0,0,0" 3835 4420 sw4754;spmut1214;dbsnp13718 MEF2D_HUMAN;NP_005911.1 "G475R,G476V,P434S,S306L,S508L" "0,0,0,0,0" 4209 6278 sw4755;dbsnp20320 GRM7_HUMAN;NP_000835.1 "G745E,I495V,M738V,R190Q,S521L,Y433F" "0,0,0,0,0,0" 2917 2488 sw4756;dbsnp26667 GRM3_HUMAN;NP_000831.2 "G475D,R352W" "0,0" 2913 2717 sw4757;dbsnp24342 GRM4_HUMAN;NP_000832.1 "D648N,I410M,L169F,R13Q,R270H,R44H,T532A,V797I,V905I" "0,0,0,0,0,0,0,0,0" 2914 2488 sw4758;dbsnp3590 CHD4_HUMAN;NP_001264.2 "A1383T,A13V,D140E,E139D,G276C,H474Y,I1655V,S1648L,T48S" "0,0,0,0,0,0,0,0,0" 1108 397 sw4760 MYPC3_HUMAN "A416S,D604N,E758D,I1130T,L544M,L668H,P1002Q,P161S,R833T,R833W,V189I" "1,1,1,1,0,1,1,1,1,1,0" 4607 1216 sw4761;dbsnp28500;dbsnp28502 PTGR1_HUMAN;NP_001139580.1;NP_036344.2 "A27S,G228S,I238V,I326V,K163M,K194E,R280C,T144A,T202I,V169A,V189I" "0,0,0,0,0,0,0,0,0,0,0" 22949 10161 sw4762;dbsnp24559 NPT1_HUMAN;NP_005065.2 "I184V,M44I,R167Q,R169Q,S76N,T269I,V48M" "0,0,0,0,0,0,0" 6568 7255 sw4763;dbsnp28559 ZN169_HUMAN;NP_919301.2 "E78K,I279M,N216Y,P72L,Q449R,Q596H,R187H,R191S,R269S,R338W,R381C,S152L,V347M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 169841 5101 sw4764;dbsnp5610 NFAC4_HUMAN;NP_004545.2 "D714G,E602K,F741L,G160A,I620T,L748P,N516H,P322L,S246N,S800P,T226N,T494M,T645M,V423I,V451I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4776 2258 sw4765 KI3S1_HUMAN R166H 0 3813 7486 sw4766 KI2S1_HUMAN "L111V,R91K" "0,0" 3806 7486 sw4767;sws598;dbsnp25972 GPNMB_HUMAN;NP_001005340.1 "A354T,C190Y,D141Y,D252N,D445E,E209D,F292L,G75E,I509V,L4F,N197H,N197K,P18L,P324L,P326L,R547C,S195C,S294F,S538R,V176I,V229A,V231L,V231M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10457 5523 sw4768;dbsnp9131 NMDE3_HUMAN;NP_000826.2 "A1211T,A776V,A8T,E1064Q,G1180R,G20R,G489S,I657V,L1204V,L65F,P64L,R1209S,R401Q,R47H,S418G,S911R,T1196I,V34M,V446M,V490I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2905 1096 sw4769;dbsnp18330;dbsnp18331;dbsnp18332 ZN638_HUMAN;NP_001239541.1;NP_001014972.1;NP_055312.2 "A1617T,A1912V,A780P,C1198R,C555S,E1196G,E866D,G1467R,H363P,H513R,I1108V,I110V,I315V,I728V,K1850E,K782E,K839R,L1561V,L696V,M262V,N1710S,N980S,P27S,R1446M,S1462N,S628G,T1816A,T821K,V1726M,V1868L,V559I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27332 439 sw4771;dbsnp114 NOLC1_HUMAN;NP_004732.2 "D137E,D330E,D524N,G412V,K184E,N46S,P202L,R683Q,S456P,S580L,V577I" "0,0,0,0,0,0,0,0,0,0,0" 9221 4081 sw4772;dbsnp1642 NUMA1_HUMAN;NP_006176.2 "A1102T,A2049T,A262V,A794G,D1795N,D632N,E1123G,E1153D,E809D,E873K,F1336V,G1801S,G410S,G978S,H74P,I1920T,I52N,K242R,L1707S,L1763P,L344V,M108I,N477S,P2088L,Q1089E,Q1135H,Q772L,R1070H,R1154W,R1636W,R1681C,R1762H,R1809Q,R1987C,R2044Q,R257H,R311C,R443G,R443Q,R597M,R643W,R724G,R7W,R918C,R972Q,S1105P,S2047L,S801N,T1838K,T1838M,V1825M,Y1836H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4926 371 sw4773;dbsnp27596 ODFP1_HUMAN;NP_077721.2 "F243L,K17N,N219S,N225S,P136S,P223T,R34Q,S210N,S216N,S222N,S228N,S89I" "0,0,0,0,0,0,0,0,0,0,0,0" 4956 11911 sw4774;sws600;dbsnp24779 COJA1_HUMAN;NP_001849.2 "A1012S,A277G,A352G,D852N,E496G,F332C,G1112S,G295R,G406E,I183V,K560N,K924N,P1094L,P1125T,P165A,P324A,P538L,P636Q,P719L,P733S,P736T,P793A,R1138H,R161Q,R169C,R602H,R752W,V910F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1310 1575 sw4775;dbsnp13819 NR1I3_HUMAN;NP_001070948.1 V133G 0 9970 9506 sw4776 NR1D2_HUMAN "L386M,P21H,P288R,Q282K" "0,0,0,0" 9975 5426 sw4777;dbsnp18100 PSME4_HUMAN;NP_055429.2 "E1134K,E1155D,E31D,G332S,I1383M,I83V,I872V,K232R,L725F,N1679S,N838D,S1371T,T1750A,T1825A,V1639M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23198 531 sw4779 NWD1_HUMAN D1541V 0 284434 764 sw477;dbsnp15851 WNT9A_HUMAN;NP_003386.1 "A260T,L292V,R271W,R312S,R357H" "0,0,0,0,0" 7483 9294 sw4780;sws601;spmut1933;dbsnp25101 SHPRH_HUMAN;NP_001036148.2 "A66S,C1453R,F592C,F92Y,N1028Y,Q438R,R1184C,S460F,S60N,V1280M" "0,0,0,0,1,1,0,1,0,0" 257218 659 sw4781;dbsnp3323 T132D_HUMAN;NP_597705.2 "A1052T,A367P,D460H,D554G,E436Q,G162R,G553R,H12L,L849F,L878F,L90Q,P3L,S831L,T349M,V450I,V489I,V742G,V767I,V892E,V92A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 121256 1689 sw4783;dbsnp13200 CLCA4_HUMAN;NP_036260.2 "A59T,C210F,D443V,G381E,M449L,P43S,S303R,S492G,V810L" "0,0,0,0,0,0,0,0,0" 22802 2502 sw4784;dbsnp4002;dbsnp4003 K2C72_HUMAN;NP_542785.1;NP_001139697.1 "A395T,A469T,D366E,E127K,E154D,E218K,E315K,G194R,G73S,G83R,K104N,M114T,N171D,Q326E,R126Q,R300C,R377W,R405W,R428L,R66P,S81R,T369M,V236A,V327F,Y264C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140807 4648 sw4785;sws602;dbsnp4226 NAA25_HUMAN;NP_079229.2 "A138S,A138T,I581V,I627V,K876R,L426F,L915I,M638V,N111S,P110T,R275Q,R723Q,S817G,T836I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80018 2228 sw4786;dbsnp8080 CP072_HUMAN;NP_054836.2 "N221S,R122Q,R139H" "0,0,0" 29035 11363 sw4787;sws603;dbsnp23378 FAKD3_HUMAN;NP_076996.2 "A361V,A550T,E459G,E459Q,G623S,K431Q,K56R,L3F,N282D,N93S,R477Q,V55F" "0,0,0,0,0,0,0,0,0,0,0,0" 79072 4459 sw4788;dbsnp2320;hgmd0613_2348 HECAM_HUMAN;NP_689935.2 "D128N,D211N,D29E,G89D,G89S,L23H,M218V,N324S,P148S,Q284R,R288C,R3T,R92Q,R92W,R98C,S196Y,T247I,V87I" "1,1,0,1,1,1,0,0,1,0,1,0,1,1,1,1,0,0" 220296 8253 sw4789;dbsnp20201;dbsnp20203 MELT_HUMAN;NP_001161384.1;NP_078897.2 "D336N,E466K,F240L,I253F,I349M,L329V,M207I,M275I,M319V,N512I,N512K,N815S,P717A,P96L,R122Q,R220W,R365Q,R500K,R786Q,S208C,S271C,S501L,S522P,S602N,T158N,T537I,V263G,Y510H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79674 3014 sw478;dbsnp9230 WNT9B_HUMAN;NP_003387.1 "A126T,E152K,G29R,M106T,Q47R,R222H,R69W,R94Q,S174R,S244L,T234M" "0,0,0,0,0,0,0,0,0,0,0" 7484 9294 sw4790;dbsnp19150 CB085_HUMAN;NP_776182.2 "A451V,D64N,G101E,G277C,I218T,L311P,P107L,R484C,V490I" "0,0,0,0,0,0,0,0,0" 285093 5524 sw4791;dbsnp4462 T132B_HUMAN;NP_443139.2 "A658V,L913M,Q251L,R808L,T656A,V413I" "0,0,0,0,0,0" 114795 1689 sw4792;dbsnp18570 CND2_HUMAN;NP_056156.2 "A623T,G740E,I99V,N513S,P277L,P625R,R221G,V33M,V384I,V539A" "0,0,0,0,0,0,0,0,0,0" 23397 3687 sw4793;spmut1453 PAF_HUMAN E79K 0 9768 14524 sw4794;dbsnp25403 FL2D_HUMAN;NP_004897.2 "E84D,T82S,V381I" "0,0,0" 9589 8659 sw4795;dbsnp7515 HERP1_HUMAN;NP_055500.1 "P157S,P325A,R354T,R50H" "0,0,0,0" 9709 8773 sw4797;dbsnp3357 CND1_HUMAN;NP_055680.3 "A2G,A574T,E1383K,E538Q,F543V,I1170T,I634T,I63M,K580R,N1335S,P3H,P497R,P836L,Q83E,R1100H,R1218L,R583Q,R91H,S1258Y,T1321S,T635P,V1267G,V23L,V337M,V797M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9918 979 sw4798;dbsnp10073 SUZ12_HUMAN;NP_056170.2 "D290G,N216I,Q411H,S726N,T679I,V71M" "0,0,0,0,0,0" 23512 3707 sw4799;dbsnp19912 EXOS7_HUMAN;NP_055819.2 "C238Y,R169Q,S246T,T5A,V274L" "0,0,0,0,0" 23016 11066 sw47;dbsnp7495 CCD78_HUMAN;NP_001026907.2 "A37T,E128D,G406R,G412R,G8D,I61M,K238Q,N322K,R103Q,R192Q,R246Q,R297C,R348Q,R397H,R414Q,T185M,T268M,V115L,V146L,V66I,W252R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124093 7800 sw4800;sws604;spmut2181;dbsnp23270;dbsnp23273;dbsnp23276;dbsnp23277 TNIP1_HUMAN;NP_006049.3;NP_001245383.1;NP_001239320.1;NP_001239319.1 "A146V,A260V,G178S,H540Y,I374T,K217E,M187V,N95S,P103S,P151A,P539S,P553L,Q214K,R233Q,R263Q,R263W,R34G,R356Q,R409H,V16M" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 10318 4729 sw4801;sws605;spmut33;dbsnp9683 ACAP1_HUMAN;NP_055531.1 "A707T,G402A,I63T,R212Q,R212W,R424W,R533W,R68C,S734N,T306N" "0,0,0,0,0,0,0,0,0,0" 9744 3693 sw4802;dbsnp8763;dbsnp8765;hgmd0613_1171 U5S1_HUMAN;NP_004238.3;NP_001245282.1 "C476R,G773V,L637R,N969S,P53S,R262W,V45I" "1,0,1,0,0,1,0" 9343 2229 sw4803;dbsnp20785;hgmd0613_1748 SYLM_HUMAN;NP_056155.1 "D518N,D580Y,E831D,E868K,H324Q,K727N,R113Q,R605C,V735I" "0,0,0,0,0,0,0,0,0" 23395 2600 sw4804;dbsnp18129 R3HD1_HUMAN;NP_056176.2 "A464T,A978V,G924R,H651R,I310L,I33T,M270V,P661L,Q490R,Q632P,R1027H,R660C,S884R,T348S,T377I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23518 1716 sw4805;dbsnp21875 HERC3_HUMAN;NP_055421.1 "A743V,E946Q,I793V,M933L,T958A,V409I,V820L" "0,0,0,0,0,0,0" 8916 1866 sw4807;dbsnp17609 JOS1_HUMAN;NP_055691.1 "R53W,S48R" "0,0" 9929 12916 sw4808;spmut1717;dbsnp18916;hgmd0613_1616 RB3GP_HUMAN;NP_036365.1 "E760G,F755L,I276V,I305V,L223F,M907I,N598S,P436L,P934A,P934S,P934T,R336C,R869G,R892S,S62T,T409I,Y442C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22930 2152 sw480;dbsnp14660;dbsnp14661 RGS13_HUMAN;NP_002918.1;NP_658912.1 "K72R,L150F,M65I,P45L,R4Q" "0,0,0,0,0" 6003 13738 sw4810;dbsnp7280 SYK_HUMAN;NP_005539.1 "E92Q,F239L,G179A,I274M,L105H,M292V,N57S,N90S,P16R,R393Q,R420C,T595S" "0,0,0,1,1,0,0,0,0,0,0,0" 3735 4851 sw4811;spmut1905;dbsnp15470 SETB1_HUMAN;NP_001138887.1 "A1021V,A1191T,A824G,A824P,E992D,L583M,N236S,P447S,P506S,P529L,P977L,Q80H,R1018L,R1074C,R1075C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9869 1180 sw4812;dbsnp27627 LRC14_HUMAN;NP_055480.1 "A335V,A408V,A470T,G437D,L108V,Q152L,R459C,R48C" "0,0,0,0,0,0,0,0" 9684 6785 sw4814;dbsnp27631 RRS1_HUMAN;NP_055984.1 "D296N,G321D,K126R,L39M,M222T,N267Y,Q116H,R191L,V274I" "0,0,0,0,0,0,0,0,0" 23212 9296 sw4815;dbsnp20189;hgmd0613_575 IQCB1_HUMAN;NP_001018864.2 "A427E,C434Y,E481K,F142L,G532R,I393N,L108F,L568P,M187K,N517Y,R435C" "0,0,1,0,0,0,0,0,0,0,0" 9657 5156 sw4816;dbsnp29974 ARHG6_HUMAN;NP_004831.1 "C57R,E524Q,L739M,M457V,Q297H,R121H,T156M,T501M,V229I" "0,0,0,0,0,0,0,0,0" 9459 3395 sw4817 K0040_HUMAN Q26K 0 9674 13858 sw4818;dbsnp14637 KIF14_HUMAN;NP_055690.1 "A1099T,A330T,A89T,D1415V,D51N,E116K,E1338V,G1612E,G1615S,G58R,K314R,K74E,K928T,M1092V,M458V,M578I,N553S,P1633A,Q1207R,Q1376E,R1028Q,R1197G,R699H,R734Q,S1270R,T395M,V363I,V365L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9928 689 sw4819;sws607;dbsnp29140 BRD3_HUMAN;NP_031397.1 "A172V,A255V,K435Q,K655R,R441H,S254L,S447P,V174M" "0,0,0,0,0,0,0,0" 8019 1044 sw481;dbsnp21924 RGS12_HUMAN;NP_937872.1 "A332T,A377V,A797V,D321E,G1411R,G331S,G453V,I225V,K74E,M277L,N1124S,N148D,N68S,P594L,P696S,P842L,Q1097H,Q554R,R101H,R1251W,R633Q,R660C,S143F,S16A,S207L,S455N,T644M,V291M,V304M,V460M,V56M,W537C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6002 901 sw4820;dbsnp5121 POSTN_HUMAN;NP_006466.2 "A484V,D293E,F799S,G453R,I15T,P186S,R228H,T323M,T339I,V684M,V814M" "0,0,0,0,0,0,0,0,0,0,0" 10631 2994 sw4821;dbsnp8822 ACOX1_HUMAN;NP_009223.2 G101S 0 51 4477 sw4823;spmut1434;dbsnp11274;dbsnp11275;dbsnp11276 OZF_HUMAN;NP_001093109.1;NP_001093108.1;NP_009076.2 R8K 0 7705 3684 sw4824;spmut579 EEA1_HUMAN K810Q 0 8411 963 sw4826;dbsnp17962 PDIA6_HUMAN;NP_005733.1 "A364V,A402D,G145R,K214R,K437R,P397L,V407F,V421M,V48L,W54R" "0,0,0,0,0,0,0,0,0,0" 10130 7765 sw4827;dbsnp11060;dbsnp11061;dbsnp11062 PA1B3_HUMAN;NP_002564.1;NP_001139411.1;NP_001139412.1 R214G 0 5050 12302 sw4828;dbsnp24653 RAGE_HUMAN;NP_001127.1 "C144W,C301S,G309R,G397R,G82S,L159F,P293L,Q100R,R314H,R369Q,R48Q,R77C,S391L,W271R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 177 8163 sw4829;dbsnp18235 PLCL1_HUMAN;NP_006217.3 "A278V,D159G,D445N,E611V,G675D,H755Y,K1077R,L841F,M462V,M604I,M604V,P454S,Q142E,Q368R,R129H,R535S,R580Q,R933W,R979Q,S1079G,S546F,S586F,S937N,V210M,V34M,V570I,V667I,W214L,W684C,Y823F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5334 1636 sw482;dbsnp24904 NCTR3_HUMAN;NP_667341.1 "A103T,A136T,C108S,F36L,L140F,L19R,P38S,R174S,R84H" "0,0,0,0,0,0,0,0,0" 259197 12934 sw4830;dbsnp18418 PDCD1_HUMAN;NP_005009.2 "A215V,A263T,L138Q,R264C,V239M" "0,0,0,0,0" 5133 11140 sw4831;dbsnp19197 PDK1_HUMAN;NP_002601.1 "A134T,D137E,I245S,N176H,N412T" "0,0,0,0,0" 5163 7836 sw4833;spmut1579;dbsnp14744 PMVK_HUMAN;NP_006547.1 "A52S,D75H,R42W,V125M,V131I,V96A" "0,0,0,0,0,0" 10654 13131 sw4834;dbsnp8124 CDK10_HUMAN;NP_443714.3 "C358Y,N168S,P96L,R342H,R57W,S136L,V177M" "0,0,0,0,0,0,0" 8558 3248 sw4835;sws610;spmut1077;dbsnp5623 KPCD1_HUMAN;NP_002733.2 "A481T,G169W,G641S,H891R,I734M,I808V,K478Q,M341L,M97I,N886S,P679L,R677M,R825K,R908H,S225P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5587 2542 sw4836;dbsnp16122 PLCB4_HUMAN;NP_877949.2 A1154V 0 5332 1433 sw4838;dbsnp27351 PCM1_HUMAN;NP_006188.3 "A176D,A685S,A691S,E1326D,E395K,G871V,H483Y,I1698L,I613S,K1701N,L371F,M597V,N1131H,N1865D,N455S,R1251H,R1764S,R914Q,S159N,S159R,S600P,T1543I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5108 414 sw4839;dbsnp8014 NOMO1_HUMAN;NP_055102.3 "A1196T,E1081K,E263K,G1198S,G1206S,G868R,I1141F,I1144F,I404V,K392R,K458N,L1185M,M493V,M580V,N490D,Q1199P,Q482R,R1190W,R1195G,R1195H,R366H,T478M,V1111F,V445M,V583A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23420 1238 sw483;sws39 CSKP_HUMAN "D710G,P396S,R28L,Y268H" "1,1,1,1" 8573 2452 sw4840 PON2_HUMAN C311S 0 5445 9532 sw4841;dbsnp26300;hgmd0613_530 PON3_HUMAN;NP_000931.1 "A179D,D107N,E146K,F206S,G2E,G324D,H160R,M136I,M247T,M88V,V166M,V272A" "0,0,0,0,0,0,0,0,0,0,0,0" 5446 9532 sw4842 TCAL1_HUMAN R5C 0 9338 13758 sw4843;sws613;spmut2066;dbsnp25866 STK38_HUMAN;NP_009202.1 "D145N,K267R,V106F" "0,0,0" 11329 7296 sw4844;dbsnp11111;dbsnp11112 PSG5_HUMAN;NP_002772.3;NP_001123486.1 "A166P,A166T,A263V,A269E,D74A,E170D,F279S,I291M,L144M,L144P,L18V,N141T,N154K,N234S,P196L,P3T,P7T,Q281L,R195Q,R227H,R252C,S156L,T135I,T168I,T208M,T232S,V231L,Y258D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5673 7855 sw4845;dbsnp3897 PTPRR_HUMAN;NP_002840.2 "E611K,I313V,I80T,K314R,P40L,R134W,R155C,R155H,R187H,R414C,V106E,V206I,V239I,V386F,V386I,V439I,V534I,Y249H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5801 4507 sw4846;spmut1659;dbsnp28719 PTPA_HUMAN;NP_821068.1 "K218T,K28R,L349V,L55I,R208Q,S357L" "0,0,0,0,0,0" 5524 9474 sw4847;dbsnp16982 PWP2_HUMAN;NP_005040.2 "D151N,D189N,D25N,D479N,E174K,E319D,E319K,E644K,F551I,F628S,G839R,H867R,L764F,M765T,N574D,N869T,P125S,P747R,P747S,R239Q,R635P,R884P,S341L,T438S,T539A,V73A,V85A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5822 2503 sw4848;spmut1312 NADC_HUMAN "A158V,T195A" "0,0" 23475 10928 sw4849;spmut1689;dbsnp9107 RABE1_HUMAN;NP_004694.2 "E640G,M628I" "0,0" 9135 2817 sw4850;sws614;dbsnp2773 RCN1_HUMAN;NP_002892.1 "A121T,A153T,D73Y,E303A,G219R,G262R,I116V,Q74E,R188P,T71N" "0,0,0,0,0,0,0,0,0,0" 5954 10108 sw4851;dbsnp10561 RBP1_HUMAN;NP_006779.1 "A617V,I173V,I322V,Q634E,R208Q,T155A" "0,0,0,0,0,0" 10928 4530 sw4853;dbsnp9248 K1H1_HUMAN;NP_002268.2 "A234D,A234G,A234V,A377E,A377G,A377V,A39G,A82E,A82G,A82V,C44W,E96D,N280K,P384H,P384L,P384R,P404L,P404Q,P404R,R202H,R202L,R202P,R208H,R208L,R208P,R223Q,R276G,T374K,T374M,T374R,V341L,V341M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3881 7606 sw4855 E2F5_HUMAN G18A 0 1875 8313 sw4856 L2GL1_HUMAN "Q550H,S148G" "0,0" 3996 1845 sw4857;dbsnp14429 LRC41_HUMAN;NP_006360.3 "G405W,L242F,P361S,R506H,R598Q,R686H,V609I" "0,0,0,0,0,0,0" 10489 3128 sw4858;dbsnp28357 TTF1_HUMAN;NP_031370.2 "A290S,A348G,A454V,A885V,D570H,E245D,E35K,E473K,G360V,I474T,I63V,K17Q,K538R,M293I,M307I,N228H,N465K,P358L,R229Q,R229W,R401Q,R763W,S227N,S253P,S283F,T233A,T270A,T510S,V303A,V314L,Y231F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7270 2583 sw4859;sws617;dbsnp24799 EPHA7_HUMAN;NP_004431.1 "A245T,A625T,E715Q,I138V,N361K,P278S,Q675P,R20C,R371Q,T945M,V326I,V662L,W802R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 2045 1872 sw485;sws41;dbsnp22385 EREG_HUMAN;NP_001423.1 "A17G,C141F,P167L,Q62H,R145G,R147Q" "0,0,0,0,0,0" 2069 13557 sw4860 TOM20_HUMAN "P117L,V134L" "0,0" 9804 14011 sw4862;dbsnp8254 SF3B3_HUMAN;NP_036558.3 "G908R,I310V,I996V,R128G,S659L,S794N,S794T" "0,0,0,0,0,0,0" 23450 1368 sw4863;dbsnp28621 K0020_HUMAN;NP_055693.4 "D363N,D450E,E457Q,H288Q,H497Q,I264V,I529V,L126P,L625S,M387V,M526I,R124G,R289P,R456Q,R480Q,S13N,S492C,T414S,T519I,T635A,V297L,V585I,Y257N,Y399C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9933 4603 sw4864;dbsnp5659 DLGP5_HUMAN;NP_055565.3 "C364R,E162K,E450Q,E753Q,F681I,G116R,G69E,I14M,K156Q,P177S,P53S,P768S,Q215R,Q324H,T445S,T469I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9787 2921 sw4865;dbsnp22057 TLR1_HUMAN;NP_003254.2 "D207A,D605Y,G522R,H118Y,H305L,H352N,H720P,I460V,I57M,I75T,K677N,L144P,L443I,L443V,L631R,N124D,N248S,P315L,P733L,R80T,S122A,S298F,S44P,S599F,S602I,T565S,V542A,V587G,V651A,V674A,W616R,Y554C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7096 3137 sw4866;dbsnp6553 RYR3_HUMAN;NP_001027.3 "A611V,D1678G,E1380G,E1767K,E4704K,G2270E,I2314M,I3000V,I358T,I642V,I731V,K916T,M1807I,N2497S,N2647Y,N2794S,N3849H,P3085R,P3986S,R1641C,R261S,R3485Q,T924A,V109A,V4123M,V494I,V610I,Y693C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6263 35 sw4867;dbsnp13603 KS6A1_HUMAN;NP_002944.2 "A289V,G385S,K335T,P368A,R510W,V234I" "0,0,0,0,0,0" 6195 3662 sw4868;dbsnp14681 SYCP1_HUMAN;NP_003167.2 "C385W,E691A,E78D,E805D,H519N,K684R,L583V,N216S,N513D,N918H,P860S,T179I,Y87C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6847 2202 sw486;sws42;dbsnp26797 TFEC_HUMAN;NP_036384.1 "D34N,G100S,P43S,Q6H" "0,0,0,0" 22797 6190 sw4873;dbsnp13921;hgmd0613_1006 STIL_HUMAN;NP_003026.2 "A1145V,A357T,A86V,D1143N,G787S,H156R,H968R,H984R,L485F,N865T,P1012R,P1193L,R1231Q,R352H,S379F,S673G,S76L,S951N,V1022L,V788I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6491 1188 sw4875;sws621;dbsnp24301;hgmd0613_1556 SKIV2_HUMAN;NP_008860.4 "A1071E,A1071G,A1071V,D887N,G1153R,G546A,G546D,G552R,H447R,I164V,M1084I,M214L,N459S,Q151R,Q60R,R1001W,R1144W,R324W,R562H,R606C,R970C,T109S,V1238G,V341G,V569M,V917M,V918I,W814C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 6499 1294 sw4877 CDSN_HUMAN "D527N,G145S,L56F,M18L,N143S,S150N,S202F,S401G,S408A,S410L" "0,0,0,0,0,0,0,0,0,0" 1041 6147 sw4879;dbsnp28372 SURF2_HUMAN;NP_059973.3 "K197R,K236T,L98P,P205S,P255S,R147Q,R221Q,R244C,S213G" "0,0,0,0,0,0,0,0,0" 6835 11783 sw488 ML12B_HUMAN E141G 0 103910 9059 sw4880;dbsnp660 TAF5_HUMAN;NP_008882.2 "S130A,S283T,S409N" "0,0,0" 6877 3213 sw4881;dbsnp24292 TAF11_HUMAN;NP_005634.1 "D2H,L48F,S155F,T68R,V191I" "0,0,0,0,0" 6882 11735 sw4882;spmut2097;dbsnp24098 TAF7_HUMAN;NP_005633.2 "D248E,I131M,N275S,N38S,S178R,S34A" "0,0,0,0,0,0" 6879 7360 sw4883;dbsnp7985 TERF2_HUMAN;NP_005643.1 "A375T,E456K,L377V,P280Q,Q463E,S413G" "0,0,0,0,0,0" 7014 6660 sw4884 MARE2_HUMAN Y162C 0 10982 10217 sw4885;spmut2123;dbsnp4163 TEAD4_HUMAN;NP_003204.2 "A141T,A56T,D70E,G161E,L284F,P239L,P323S,P45L,R156H,R268C,R287Q,R351C,R360C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7004 7580 sw4886;sws624;dbsnp28974 TESK1_HUMAN;NP_006276.2 "C499Y,E265D,G574S,N332S,P410S,P533S,P552S,R164W,R185W,R433C,R536W,S353A,S501L,T492A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7016 4834 sw4887 TAF1C_HUMAN "C91Y,H518Y,R357H" "0,0,0" 9013 2778 sw4888;dbsnp14772;dbsnp14773 TAF1A_HUMAN;NP_005672.1;NP_001188465.1 "I98M,L23F,R326H,R435Q,S391N,T261P,Y443C" "0,0,0,0,0,0,0" 9015 7589 sw4890;dbsnp10409 TGIF1_HUMAN;NP_733796.2 "E131Q,H16Y,P289S,S18L,S53F,S9P" "0,0,0,0,0,0" 7050 8559 sw4891;dbsnp27508 NCOA2_HUMAN;NP_006531.1 "D584G,G1363R,M1282I" "0,0,0" 10499 876 sw4892;spmut512;dbsnp3036 DIXC1_HUMAN;NP_001033043.1 "A32V,A470V,G652D,K300R,R446W,R521C,R641W,Y483S" "0,0,0,0,0,0,0,0" 85458 4246 sw4893;dbsnp28443 OR1Q1_HUMAN;NP_036496.1 "A183T,A36T,A44T,G300R,I163M,I37T,P175L,Q24R,T240A" "0,0,0,0,0,0,0,0,0" 158131 9419 sw4895;dbsnp9277 OR4D1_HUMAN;NP_036506.1 "H155Y,L174I,P129T,R54Q,S217F" "0,0,0,0,0" 26689 9711 sw4896 OR8G1_HUMAN A247V 0 26494 9775 sw4897;dbsnp14584 OR1C1_HUMAN;NP_036485.2 "A67V,C179R,M277L,T209M" "0,0,0,0" 26188 9535 sw4898;dbsnp3502 TRBP2_HUMAN;NP_599150.1 "G97A,R354H,S251F,V151A" "0,0,0,0" 6895 9276 sw4899;spmut1911;dbsnp2429 SF01_HUMAN;NP_004621.2 "G372V,S357T,S396G,V39A" "0,0,0,0" 7536 4345 sw48;dbsnp12968 HFM1_HUMAN;NP_001017975.3 "D770N,G257C,H1151Q,H116Y,I117V,I1362V,I872V,I939V,K202E,K493Q,L2P,M432V,P1190S,P1214A,R297W,S115P,T305A,Y206C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 164045 925 sw4900;dbsnp5506 TRIPB_HUMAN;NP_004230.2 "A128S,A1709T,A1963T,D1413A,D884G,E1107D,E1696K,E1713Q,E1749A,E430G,E506A,E712K,G1827S,H1884R,H789R,H914P,I1040V,I1159V,K103Q,K1766N,K73E,L427S,L759Q,M1503V,M1886T,M39L,N1202H,N1967S,N701S,P1877T,Q1248R,Q1357K,R1576H,R1752K,R1926H,S1355T,S1927L,S530N,S635C,T1846I,V1779I,V795L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9321 438 sw4901;dbsnp4336 OASL_HUMAN;NP_003724.1 "A135D,E28K,G144E,I178L,I418V,L500V,L7V,M128V,N341I,R211C,S176G,T150M,V348M,Y174C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8638 6403 sw4902;dbsnp8830 MED1_HUMAN;NP_004765.2 "A937V,E1491Q,G674S,G938S,K1020R,M1209V,M1546V,P1562L,P753T,R41H,S1025N,S1167F,S1240G,S1386T,S984L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5469 752 sw4903;dbsnp4 JHD2C_HUMAN;NP_116165.1 "A272T,D2400E,D568V,E1028Q,E2531K,E2535D,E394D,I1833V,K1700R,K637R,M591V,N1393Y,N525D,P1980L,Q2035H,Q2035P,R368Q,S320N,S464T,T1394S,T516S,T650I,V1575A,Y75H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221037 231 sw4904;dbsnp12049 IKBB_HUMAN;NP_002494.2 "A38V,G119R,P158S,R339W" "0,0,0,0" 4793 9514 sw4905;spmut2218;dbsnp26171 TRIP6_HUMAN;NP_003293.2 "A353V,E274D,E444K,L296F,P143L,R111Q,R117Q,R85S,R89C,T103M,V230I" "0,0,0,0,0,0,0,0,0,0,0" 7205 7077 sw4906;dbsnp8363 TRYB1_HUMAN;NP_003285.2 "A116I,A18V,A85T,D162N,E126Q,E129K,G23V,G245D,G52D,H136R,H51R,H51Y,I118T,N132K,N3S,P170S,P53R,P78L,Q221K,R15P,R168P,R216Q,R28Q,T115I,T141A,T141M,T215S,V133I,V205I,V29A,V76L,Y263N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7177 11364 sw4908;sws625;dbsnp14224 PTN14_HUMAN;NP_005392.2 "A90T,E189G,E716A,G592S,G801R,G857D,H475R,I924V,K920Q,M775I,P488L,P797L,R1113W,R132Q,R491W,R668C,R728Q,R728W,R877Q,S418N,T1046R,T1068M,T1075I,T351M,T59M,T629M,T670M,V505F,V886A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5784 1463 sw4909;dbsnp5074 T22D1_HUMAN;NP_904358.2 "A243T,A26T,A899T,D969V,E807K,I226V,L87R,P1049S,P29L,P652S,P80S,S762L,T319N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8848 1809 sw490;dbsnp22951 LECT2_HUMAN;NP_002293.2 "G63E,I24T,I58V,P69A" "0,0,0,0" 3950 13899 sw4910;spmut1143;dbsnp6361;dbsnp6362 LT4R1_HUMAN;NP_001137391.1;NP_858043.1 "L346F,S125T" "0,0" 1241 9602 sw4912 PI5PA_HUMAN S333I 0 27124 2085 sw4914;sws626;spmut1413;dbsnp5621;dbsnp5622 OGR1_HUMAN;NP_001171147.1;NP_003476.3 "R128G,R53Q,T18A,T361M,V144G" "0,0,0,0,0" 8111 9297 sw4915;sws627;spmut1303;dbsnp20493;hgmd0613_2225 MYLK_HUMAN;NP_444253.3 "A128V,A1300T,A1527V,A1754T,A1826V,A557T,A701T,D1329E,D1462G,D1682H,D1682N,D82G,D914E,E1009D,E1399K,E921K,G1639S,G439R,H1081R,K281R,L1395P,L496V,L861P,M1236V,M405V,N491S,P147A,P147S,P147T,P160R,P21H,P336L,P443S,P652A,Q133H,R1250C,R1450Q,R1450W,R23S,R378G,R378H,R506G,R538W,R544Q,R607G,R705H,R845C,R898Q,S1341P,S1759P,S1768G,T1085A,T1814I,T276A,T692M,V1213M,V261A,V709M,V877M,W656C,Y1410C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 4638 474 sw4916;spmut2090;dbsnp17706 TAB1_HUMAN;NP_006107.1 "D206N,D224E,L152P,L152R,P368L,R187H,R463H,R6K,T253R,T446I,V180I" "0,0,0,0,0,0,0,0,0,0,0" 10454 6579 sw4917;dbsnp6560 HERC1_HUMAN;NP_003913.3 "A1978S,A1998S,A2816T,A3165S,A3228T,A663G,D3708N,E3722D,G1125D,G1411V,G1696A,G3517R,H1447N,I2220V,I2704V,I4394V,K1038T,L1088F,L1278F,L1552F,L1682V,L2307M,N923S,P2668S,P3596S,Q3728R,R3704H,S1572A,S1775Y,S3152F,T1995A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8925 37 sw4918;dbsnp11514 AAAT_HUMAN;NP_005619.1 "A383T,A429V,E253K,E253V,F336L,I453L,M541T,P17A,P221R,S177I,V469I,V512L" "0,0,0,0,0,0,0,0,0,0,0,0" 6510 5971 sw4919;sws628;spmut1237;dbsnp17734 MK11_HUMAN;NP_002742.3 "E339D,R275H" "0,0" 5600 9253 sw491;spmut869;dbsnp9685 HGS_HUMAN;NP_004703.1 "A733S,E400D,L238P,L95V,M428V,M631V,Q247E,S243Y,T7S,V674M" "0,0,0,0,0,0,0,0,0,0" 9146 3386 sw4920 GPR19_HUMAN V189I 0 2842 8275 sw4921;dbsnp10323 CD226_HUMAN;NP_006557.2 "A228T,E19K,E242K,I140V,M42T,R171H,R279K,R330C,R330H,S307G,V134A" "0,0,0,0,0,0,0,0,0,0,0" 10666 9987 sw4922;dbsnp10006 EFNB3_HUMAN;NP_001397.1 "G174A,P306H,R166Q,S315C" "0,0,0,0" 1949 9899 sw4923;sws629;dbsnp18924 SPEG_HUMAN;NP_005867.3 "A1124G,A1135V,E2528A,G2299C,G2472D,H3079R,I2324N,L2604F,P1103L,P2189H,P2189L,P2189R,P2261L,P2687T,R1055Q,R1234W,R1340Q,R1621C,R1643L,R206H,R2502G,R2790G,R934C,R966Q,Y1276C,Y1659C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10290 117 sw4924;dbsnp25548 ZN192_HUMAN;NP_006289.2 "G296S,P163L,Q407R,R53S,S42N,V578I" "0,0,0,0,0,0" 7745 5441 sw4925;dbsnp3165 MPPD2_HUMAN;NP_001575.1 "G206D,H67R,S165L" "0,0,0" 744 11000 sw4926;dbsnp12921 CH3L2_HUMAN;NP_003991.2 "A182V,F106L,G290R,G300A,H254P,N126D,R318W,V184I,W218R" "0,0,0,0,0,0,0,0,0" 1117 8795 sw4927;dbsnp16479 TOM34_HUMAN;NP_006800.2 "R293K,S172G,V122I,W158S" "0,0,0,0" 10953 10664 sw4928;spmut1326;dbsnp18030 NCOA1_HUMAN;NP_003734.3 "A857T,E685A,I1356L,I591T,M1154T,N1332S,N466K,P1272S,P794A,Q457K,R572S,S1183Y,S474P,S999F,T377N,V1238I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8648 915 sw4929;sws631;spmut1963 SMAD2_HUMAN "D450E,L440R,P445H,R133C" "1,1,1,1" 4087 7256 sw492;sws43;spmut183 AURKA_HUMAN "F31I,G11R,M373V,P50L,S104L,V57I" "0,0,0,0,0,0" 6790 8518 sw4930;hgmd0613_1425 SMAD1_HUMAN V3A 1 4086 7251 sw4931;dbsnp22386;hgmd0613_1534 MSMO1_HUMAN;NP_006736.1 "E5Q,I203T,K99R,N124S,V204M" "0,0,0,0,0" 6307 11020 sw4932;dbsnp14737;dbsnp14738 TBCE_HUMAN;NP_003184.1;NP_001072983.1 "A149G,E409G,G94E,I85V,K190T,M305I,P466L,P64L,P72S,R135W,R526Q,S333T,T65K,V132I,V205A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6905 6177 sw4933;spmut2111 TBCC_HUMAN "A279T,E86D,G157D,P169S,P180S,V65A" "0,0,0,0,0,0" 6903 9764 sw4934;dbsnp27843 UB2V2_HUMAN;NP_003341.1 "D40H,E36G,E68G,N144D,P71L,P78Q,R81G,T84A" "0,0,0,0,0,0,0,0" 7336 9207 sw4936;dbsnp27895 ACHA6_HUMAN;NP_004189.1 "K26N,K408E,N447S,N46K,Q437R,S43P,V476I,V55I" "0,0,0,0,0,0,0,0" 8973 6759 sw4939;spmut1784 RK_HUMAN "C514S,E136Q,M522T,N330S,P391H,R438H,S536L,T298M,V380D" "0,0,0,0,1,0,0,0,1" 6011 5631 sw493;dbsnp21903;dbsnp21904 CLGN_HUMAN;NP_004353.1;NP_001124147.1 "A160S,D147V,E206K,E398A,K250E,K532T,K559T,P270S,R352W,S554G,T479S,V105L,V290I,V75F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1047 5019 sw4942;dbsnp10370;dbsnp10371 UT2_HUMAN;NP_001229621.1;NP_009094.3 "A194V,A880T,C379R,D663N,G443S,G451R,G662D,G757S,G77R,G85D,I132V,I322T,I734V,L718I,M382I,M564I,M624T,N717K,N877D,P39A,P449T,R510Q,R586Q,R896H,S29R,S468L,T37I,V304M,V478I,V672I,V750I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8170 2495 sw4943 SCN9A_HUMAN "C710Y,E1171Q,E406K,E519K,I695M,I750V,L1134F,L1278V,M932L,W1161R" "1,1,1,0,0,0,0,0,0,0" 6335 418 sw4944;dbsnp13095 CAC1E_HUMAN;NP_001192222.1 "A1684V,A1955T,A702T,D1214E,D859E,G403A,G994R,G998S,H1018R,H754Y,L1243F,M523I,P813L,R2003C,R2003H,R2052Q,S2145F,V184M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 777 292 sw4945;dbsnp28961;dbsnp28962 F1892_HUMAN;NP_004807.3;NP_001121080.1 "A435V,E245K,P173H,P322S,R261K,R263Q,R323W,S400L,T230I,T233I" "0,0,0,0,0,0,0,0,0,0" 9413 7590 sw4946;sws634;spmut652;dbsnp26280 EZH2_HUMAN;NP_001190176.1 R685H 1 2146 3605 sw4947;dbsnp7503 ZFHX3_HUMAN;NP_008816.3 "A113T,A2126T,A2556V,A3294V,A3374V,A62V,A782V,A884P,A884T,A997S,C2924W,D592E,E2366D,E460Q,F2901L,G1035S,G1583C,G585S,H47Q,K3420R,K3689E,K521N,L1344W,L1824V,L379V,M1535I,M1931V,M899L,M899V,N1236T,N1602S,N2691S,N957S,P104L,P1905L,P3212L,P3257T,P3275L,P3421A,P3678L,Q1753E,Q1852P,Q2014H,Q2103R,Q2564R,Q2759H,R1114Q,R306Q,R569C,R990C,S146G,S1517L,S1519L,S1676G,S2903G,S310R,S3177L,S3356T,S3606Y,S544L,S72A,T1651M,T2608A,T2610K,T2768S,T428P,T803I,V1817L,V227I,V577I,V617I,V777A,V949I,Y3310S,Y3344C,Y865C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 463 89 sw4948;dbsnp21888;hgmd0613_1066 ZN141_HUMAN;NP_003432.1 "A46G,A46T,C55S,F463L,G129D,I70T,K124E,K358N,K60E,K69E,N355S,P74S,R163C,R349K,R365P,S352L,T165A,T325S,V65L,V71A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7700 1203 sw4949;dbsnp11979 ZNF77_HUMAN;NP_067040.1 "A476D,C144F,C167Y,C3S,G460R,G64R,H132Q,I5V,L20W,P15S,P179S,P224H,Q57E,R257W,S175A,S52G,T317M,V186I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58492 4815 sw494;spmut1308;dbsnp3797;dbsnp3798 MYPT1_HUMAN;NP_001137357.1;NP_002471.1 "C116W,E828D,G604A,K734N,T305P,T548A" "0,0,0,0,0,0" 4659 1982 sw4950;dbsnp28822 ZNF79_HUMAN;NP_009066.2 "A365T,A46G,E100K,E166K,G367V,P34S,Q492P,R51G,S308R,S401N,T31I,T58P,V165M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 7633 6696 sw4952;dbsnp2117 HSPB2_HUMAN;NP_001532.1 "G111S,G149S" "0,0" 3316 13325 sw4953;dbsnp1504 GRIK4_HUMAN;NP_055434.2 "A167G,A338G,A664T,E666D,E723G,H23Q,H403R,I265V,I710V,M400R,M690I,M824T,N595T,R208W,R3C,S622N,V475I,V528I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2900 2182 sw4955;dbsnp130 CCDC6_HUMAN;NP_005427.2 "P446L,P470T,R295H,V239A" "0,0,0,0" 8030 7126 sw4957;spmut1349;dbsnp18217 NF2L2_HUMAN;NP_006155.2 "A72T,K219R,L309F,P406S,R43Q,R517K,S99P,V268M" "0,0,0,0,0,0,0,0" 4780 5074 sw4958;dbsnp8161 E2F4_HUMAN;NP_001941.2 "E398K,K76N,T293P" "0,0,0" 1874 8313 sw4959;dbsnp22241 IBP7_HUMAN;NP_001544.1 "E228G,E281K,K95R,L11F,R78G,V265A" "0,0,0,0,0,0" 3490 11232 sw495;dbsnp6514 S27A2_HUMAN;NP_003636.2 "A63V,D175H,I262V,K48Q,P70L,Y610C" "0,0,0,0,0,0" 11001 4908 sw4960;sws636;dbsnp29597 CNGA2_HUMAN;NP_005131.1 "A160G,D118H,E120K,E465Q,E663K,G113V,G318D,H445Y,I577S,K553R,N15T,R274H,V361I,W139L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1260 3532 sw4963;sws638;dbsnp14013 KCA10_HUMAN;NP_005540.1 "A163D,A215D,D114N,D17G,D72E,G27D,G433E,I92V,K117E,L262V,L388P,M419I,N254S,N501S,R153C,R373Q,R466Q,R482G,S258N,V220M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3744 4561 sw4964;dbsnp20191 S15A2_HUMAN;NP_066568.3 "A609G,A609P,A609V,K290R,L350F,M704L,N538D,N590S,P409S,R492H,R509K,R57H,S640G,Y694H,Y73C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6565 3789 sw4965;sws639;dbsnp688 AINX_HUMAN;NP_116116.1 "D149H,H347R,I431L,L376F,S456F,T92S" "0,0,0,0,0,0" 9118 6689 sw4967;dbsnp3434 PROL4_HUMAN;NP_009175.2 "Q120R,R106Q,R96Q" "0,0,0" 11272 14181 sw4969;dbsnp28704 PSMD5_HUMAN;NP_005038.1 "A17S,A31G,D220N,E21G,I289L,L72H,R341H" "0,0,0,0,0,0,0" 5711 6580 sw496;sws44;dbsnp21836 GAK_HUMAN;NP_005246.2 "A401T,A786T,D1297N,D787Y,E816K,E825K,E983K,G1163V,H281Y,I413V,K1265R,L1218R,N467S,P1113L,P1137L,P1139R,P720S,P966L,Q1078P,Q1120H,Q877R,R1123Q,R164Q,R461Q,R464S,S1073T,S1168N,S1300L,S144L,T1051M,T1109M,V351M,V580M,V603M,V643I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2580 1145 sw4970;sws640;dbsnp23439 GBRA6_HUMAN;NP_000802.2 "I381T,P404S,Q237R,Q85H,T187M,V108I,V269I,V347A" "0,0,0,0,0,0,0,0" 2559 5782 sw4971;dbsnp12484 GRIK5_HUMAN;NP_002079.3 "D195G,M352V,P275L,R38H,R582H,R832M,S104P,V527M,V560I" "0,0,0,0,0,0,0,0,0" 2901 2182 sw4972;sws641;spmut1558;dbsnp10780 PKN1_HUMAN;NP_002732.3 "A197E,A294V,I718V,L555I,M1L,R436W,R520Q,R635Q,V901I" "0,0,0,0,0,0,0,0,0" 5585 2354 sw4973;spmut1559;dbsnp14614 PKN2_HUMAN;NP_006247.1 "A197E,E94D,Q655R,R371K,R51Q,W983R,Y273C" "0,0,0,0,0,0,0" 5586 2165 sw4974;dbsnp9569 ASIC2_HUMAN;NP_001085.2 "D354G,I309T,S100A" "0,0,0" 40 5640 sw4976;spmut478;dbsnp2632 DDB1_HUMAN;NP_001914.3 "L427F,N1049S,T887M" "0,0,0" 1642 1584 sw4977 HLF_HUMAN I253F 0 3131 10975 sw4978;dbsnp4205 GP162_HUMAN;NP_062832.1 "G450R,G565A,G573E,R214G,R363Q,R380W,R410Q,R459G,R527Q" "0,0,0,0,0,0,0,0,0" 27239 5297 sw497;dbsnp7324 ZN263_HUMAN;NP_005732.2 "C310S,L303V,P144T,P295A,P307S,P30Q,R368Q,R646Q,S218I,S249C,V534I" "0,0,0,0,0,0,0,0,0,0,0" 10127 4241 sw4980;dbsnp1298 RM23_HUMAN;NP_066957.3 "A122T,A34V,D81N,G152R,G32S,P142L,R11Q,R144W,R30W,T106M,T106R,V147L" "0,0,0,0,0,0,0,0,0,0,0,0" 6150 13859 sw4981;dbsnp10840 CDC37_HUMAN;NP_008996.1 "E145K,G360E,I271V,K93R,R235P,R92H,V295I" "0,0,0,0,0,0,0" 11140 9019 sw4982;dbsnp6486 B2LA1_HUMAN;NP_004040.1 "C19Y,E117D,G82D,N39K,S119A" "0,0,0,0,0" 597 13455 sw4983;dbsnp1387 PCSK7_HUMAN;NP_004707.2 "A102T,A237V,A558T,G205S,G779R,H708Y,L688V,N468S,P777L,R441W,R504H,R700M,R711Q,S161I,S550R,S689N,V373A,V492M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9159 3316 sw4984;sws643;spmut541;dbsnp27511 DPYL2_HUMAN;NP_001377.1 "A118T,A193T,A267S,D214Y,H289N" "0,0,0,0,0" 1808 4210 sw4985;dbsnp11913 PSG3_HUMAN;NP_066296.2 "A63T,G128V,G17R,G306R,H191P,I290N,K199N,K412E,L18V,L23S,L30P,L30S,L374Q,M189V,N198T,N248S,P171R,P214T,P3L,P3T,P93R,Q194K,R114W,R12C,R12H,R252T,R397G,S119F,S177G,S405I,S406C,T10I,T201A,T301R,T325I,V231F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5671 7855 sw4987;sws644;spmut1034;dbsnp23896 KCC4_HUMAN;NP_001735.1 "A413V,D178N,D247N,D284N,Q465R,Q466E,T443A" "0,0,0,0,0,0,0" 814 7144 sw4989;dbsnp12911 DUFFY_HUMAN;NP_002027.2 "A100T,G42D,L203Q,L67F,R89C,S152F,S326F,V219I" "0,0,0,0,0,0,0,0" 2532 9956 sw4990;dbsnp627 VACHT_HUMAN;NP_003046.2 "A13P,A261P,A520E,G360C,I426V,R11Q,R29W,T177M" "0,0,0,0,0,0,0,0" 6572 6099 sw4991;dbsnp4185 C3AR_HUMAN;NP_004045.1 "E279K,L333P,P332L,S357N,S449F,V136A,V398L" "0,0,0,0,0,0,0" 719 6964 sw4992;spmut1150;dbsnp2368 M3K11_HUMAN;NP_002410.1 "A282G,D151V,E377D,G717C,G717R,I696V,P252H,P540S,P607A,P692R,R730H,S604F,T605K" "0,0,0,0,0,0,0,0,0,0,0,0,0" 4296 2914 sw4995;dbsnp17547;dbsnp17549 ZNF74_HUMAN;NP_001243453.1;NP_003417.2 "E117K,K623N,L624F,T398P,V249M" "0,0,0,0,0" 7625 4651 sw4996;dbsnp22069 CCNG2_HUMAN;NP_004345.1 "E28G,H12Q,L229V,L4V,N193S" "0,0,0,0,0" 901 9811 sw4997;dbsnp23461;dbsnp23462 TAF9_HUMAN;NP_003178.1;NP_001015892.1 "D262H,P167S,Q210H,T6M" "0,0,0,0" 6880 11600 sw4999;dbsnp169;dbsnp170;dbsnp171;dbsnp172 ZN239_HUMAN;NP_001092754.1;NP_001092752.1;NP_001092753.1;NP_005665.2 "A172G,C209G,D193N,D266E,D26G,E56K,I448S,N84D" "0,0,0,0,0,0,0,0" 8187 7435 sw499;dbsnp28699 PI51B_HUMAN;NP_003549.1 "A415T,D434G,E219Q,N532S,P505L,R437W,V191I,V486G" "0,0,0,0,0,0,0,0" 8395 4394 sw4;dbsnp18767 FR1L5_HUMAN;NP_001106853.1 "I1989V,I337T,L1463I,L484V,M1054T,Q1554H,Q255K,R361Q,R379H,S2005L,S2082T,T682A,V1338L,V375I,W1185G,W647R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90342 381 sw500 ARHGA_HUMAN V700I 0 9639 1032 sw5000;spmut262 CALRL_HUMAN N8Y 0 10203 6520 sw5001 LPAL2_HUMAN T91M 0 - 51 sw5003;spmut199;dbsnp24511 BAK_HUMAN;NP_001179.1 "A28V,L163V,R42H,S69R,V52A" "0,0,0,0,0" 578 12714 sw5005;spmut1982;dbsnp9662 SNAT_HUMAN;NP_001079.1 "A129T,A13S,A163V,E161K,E54K,I118T,R15C,R29H,T31I,T3M" "1,0,0,0,0,0,0,0,0,0" 15 11874 sw5007;sws645;dbsnp28675 NTRK2_HUMAN;NP_001018074.1 "G309R,G545V,N338Y,Y783C" "0,0,0,1" 4915 2974 sw5008;spmut1409;dbsnp23741;dbsnp23742;hgmd0613_957 OCLN_HUMAN;NP_001192183.1;NP_002529.1 "A151V,A152V,F219S,L233S,P24A,V157F,V157I,V255E" "0,0,1,0,0,0,0,0" 100506658 6255 sw5009;dbsnp25210 MEA1_HUMAN;NP_055438.1 "A152V,A183D,E35D" "0,0,0" 4201 13263 sw5010;dbsnp9066 CCL14_HUMAN;NP_116739.1 "G71S,K61E,S25F,S4P,V74I" "0,0,0,0,0" 6358 14549 sw5015;sws647;spmut1173;dbsnp21158;dbsnp21159;dbsnp21160 MAPK3_HUMAN;NP_001230854.1;NP_004626.1;NP_001230855.1 "D276Y,G11C,G94S,R282C,R65L" "0,0,0,0,0" 7867 8578 sw5016;dbsnp16040 PTGIS_HUMAN;NP_000952.1 "D211N,E154A,F171L,G182R,H229D,K227T,M288V,P38L,P500S,R197C,R208H,R219C,R236C,R252W,R275Q,R379S,R495H,S118R,S242F,V460M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5740 6661 sw5017;dbsnp19712 TBR1_HUMAN;NP_006584.1 "G173S,H289Q,V356M" "0,0,0" 10716 4251 sw5018;dbsnp24870;hgmd0613_2495 MOG_HUMAN;NP_996532.2 "F212L,I169F,I174V,P72H,R115W,R130Q,S133C,V171L" "0,0,0,0,0,0,1,0" 4340 11880 sw5019;spmut1500;dbsnp26784 PDK4_HUMAN;NP_002603.1 "A17V,D109G,K284N,L19M,M134V,R323W" "0,0,0,0,0,0" 5166 7836 sw501;sws45 ZN646_HUMAN "I774M,R1318Q" "0,0" 9726 538 sw5020;dbsnp6460 MK06_HUMAN;NP_002739.1 "D616H,E520D,F610S,L290V,L410P,M178V,R256C,S428P,T624S" "0,0,0,0,0,0,0,0,0" 5597 3870 sw5021;dbsnp13787 GUC2B_HUMAN;NP_009033.1 "P11T,P78S" "0,0" 2981 14514 sw5022;dbsnp8695 CCL15_HUMAN;NP_116741.1 "I24T,L31F,N45D,P80T,P99L,S75C" "0,0,0,0,0,0" 6359 14138 sw5024;spmut937 IF16_HUMAN "D103H,T723S" "0,0" 3428 3317 sw5025;dbsnp6225 CDKN3_HUMAN;NP_005183.2 "C79Y,D169V,D94V,F78L,I108V,K195I,L95F,N187S,N91K,Q8R,S159F,T127I,W31R" "1,0,1,1,1,1,1,1,1,0,0,0,1" 1033 12694 sw5026;dbsnp25221 ZN187_HUMAN;NP_001104509.1 "C196S,E135V,E83K,H328R,K188Q,N15S,Q34R,R220S,R358K,R462K,R73Q,Y59C" "0,0,0,0,0,0,0,0,0,0,0,0" 7741 7032 sw5029;dbsnp240 DUS5_HUMAN;NP_004410.3 "A220M,A220T,A220V,A55S,A85S,E154D,H224R,I293M,K294R,P322L,P363L,S368L,T369A,T369P,V141L,Y31C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1847 8910 sw502;dbsnp22973 PDZD2_HUMAN;NP_835260.2 "A1084T,A1406V,A1649V,A422T,D1154H,D1343E,D1510N,D2747N,D6N,E1178G,E1421D,G1910R,G2356R,G2408S,G2545S,G2681S,G884S,H1286N,H292R,I1507V,I2369T,I608V,K2646E,M1049V,M2158I,N1213D,N1774I,N696S,N732H,P1292L,P1370S,P1868L,P226T,P2282L,P2776S,Q1258K,Q2275H,Q2275R,Q494R,R1796S,R215Q,R2235W,R2247Q,R2372G,R2667Q,R2716Q,R829H,S1106F,S1208N,S1270L,S1309L,S1850N,S2146L,S2822A,S321I,S702L,S840P,T1274A,T1425M,T1684A,T1911M,T2455M,T56M,T718N,V1014I,V1121M,V2352A,V2529I,V2597M,V726I,Y160F,Y187C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23037 168 sw5030;spmut410;dbsnp11768 CP2AD_HUMAN;NP_000757.2 "D158E,E194K,E194V,E324G,F453Y,G479V,I168V,K379Q,K419E,K88R,P261A,Q360K,R101Q,R129P,R257C,R25Q,R274C,R381W,R403S,R494C,R64S,R77W,T134N,T214P,T258R,V323L,V80M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1553 6755 sw5031;dbsnp28273 DECR_HUMAN;NP_001350.1 "D287G,K333N,S26N" "0,0,0" 1666 10014 sw5033;dbsnp30438;hgmd0613_536 AT2B3_HUMAN;NP_001001344.1 "A1173V,A467T,A72T,D641N,E497D,F1014L,G296R,I198M,I232L,I392S,I516V,M840T,R1122H,R1170H,R188Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 492 1258 sw5034;dbsnp17419 THTR_HUMAN;NP_003303.2 "E102D,E228G,P285A,R206C,S241L,V198A" "0,0,0,0,0,0" 7263 10486 sw5036;dbsnp24520 GSTA3_HUMAN;NP_000838.3 "A208T,G36E,I71L,M63I,N151S,N73D,R113Q,R13W,S202T,T193M" "0,0,0,0,0,0,0,0,0,0" 2940 12488 sw5037;dbsnp10333 LAMA3_HUMAN;NP_937762.1 "D1548G,E1354K,F177S,G399A,L873V,P1208T,R999Q,T796N,V1206A,W1518C" "0,0,0,0,0,0,0,0,0,0" 3909 113 sw5038;dbsnp28607 CAH9_HUMAN;NP_001207.2 "G79R,L83P,M435I,P283S,Q326R,R131W,R73S,V33M" "0,0,0,0,0,0,0,0" 768 7413 sw5039;dbsnp1597;dbsnp1598;dbsnp1599 MAON_HUMAN;NP_001155058.1;NP_006671.2;NP_001014811.1 "A418T,G503S,K324N,S85G,V141M,V311I" "0,0,0,0,0,0" 10873 5092 sw503;sws46 SPTN2_HUMAN S825G 0 6712 271 sw5040;dbsnp5541 RTN1_HUMAN;NP_066959.1 "A343P,D326Y,D652V,E101G,E177K,G247E,H774Q,I264L,I357V,Q617L,R272H,T124A" "0,0,0,0,0,0,0,0,0,0,0,0" 6252 1441 sw5041;sws648;dbsnp26852 PHKG1_HUMAN;NP_006204.1 "A279V,A47T,E194K,E331K,F113S,F230L,L379F,P61L,R323C,R330Q" "0,0,0,0,0,0,0,0,0,0" 5260 8188 sw5042;dbsnp24626 MEP1A_HUMAN;NP_005579.2 "A247V,D516E,D540G,E627K,G716S,G724R,H386R,K396R,L395F,M634V,R476G,R483T,R518Q,T227A,T606S,T726M,T76K,V469L,V712M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4224 3649 sw5043;dbsnp10287 MEP1B_HUMAN;NP_005916.2 "A468V,I116M,P222L,P695L,Q386R,R132Q,R179I,R405C,R683C,S546P,V326M" "0,0,0,0,0,0,0,0,0,0,0" 4225 4064 sw5044;sws649;dbsnp26120 PPR3A_HUMAN;NP_002702.2 "A1050S,A931E,C231Y,D905Y,E406A,E748K,F997C,F99L,G45S,G612E,G639C,G962D,I1087V,I572V,L882H,M1095T,M941T,N1015S,N476D,N476K,P756L,P828A,R210C,R627K,R761Q,R880S,R883S,S395A,V451M" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5506 1650 sw5045;dbsnp5617 PCKGM_HUMAN;NP_004554.2 "A477P,A477T,A581T,D64N,E629K,G406S,G586R,G586S,I268V,I590V,L516M,N91K,P123L,P441L,R244W,R31Q,R469C,R521H,R560Q,R561Q,R561W,S476T,T360I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5106 4693 sw5046;dbsnp5662 PTN21_HUMAN;NP_008970.2 "A144T,A150V,A299V,A500T,D430H,D821E,G1002S,G696R,G790R,H600Q,H697R,K906N,L385F,N1101S,P1102L,P1103L,P419L,P747L,P786A,Q142R,R1138S,R213T,R748H,S1099N,S820L,V41L,V426I,V764L,V936A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11099 1463 sw5048;dbsnp21114 DUS7_HUMAN;NP_001938.2 "A395T,E184G,S235N" "0,0,0" 1849 8171 sw504;sws47 MAST4_HUMAN "A77P,P2201L,Q923R,R1957W,S2293C" "0,0,0,0,0" 375449 206 sw5050 HCDH_HUMAN "A40T,L86P" "1,0" 3033 10131 sw5051;dbsnp19259 PTPRN_HUMAN;NP_002837.1 "A343V,A593V,A782V,L285F,P327L,P392L,Q356H,R633H,R761W,R901C,S419R,S77F,V475I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5798 2187 sw5053;spmut2323;dbsnp19506 UGPA_HUMAN;NP_006750.3 "D84V,G131S,M268I,N179S,R3G,T42A,V104M,V143L" "0,0,0,0,0,0,0,0" 7360 6502 sw5054;dbsnp8645 AOC3_HUMAN;NP_003725.1 "A408S,A582T,A749V,D272N,G700S,H167Y,H203R,I371T,P308L,R329Q,R426H,R441W,R463G,R566Q,R604C,R78Q,T5K,T5R,V171L,V171M,V352I,V431M,Y317H,Y406N,Y473N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8639 3495 sw5056;dbsnp26962 VATF_HUMAN;NP_004222.2 "A80T,G24V,G5V,R4M" "0,0,0,0" 9296 13988 sw5057;dbsnp24155;hgmd0613_2322 LTC4S_HUMAN;NP_665874.1 "A128T,R142Q" "0,0" 4056 13918 sw5058;sws652;spmut328;dbsnp24165 CDO1_HUMAN;NP_001792.2 "L156M,N175S,T45I" "0,0,0" 1036 12956 sw5059 CGT_HUMAN "I368M,P226L" "0,0" 7368 5972 sw5060;dbsnp3512 TRXR1_HUMAN;NP_001087240.1 "D365G,R267Q,R306S,T436M" "0,0,0,0" 7296 4598 sw5061;dbsnp25019 TPD53_HUMAN;NP_003278.1 "E2Q,I67T,R62K,S28P" "0,0,0,0" 7164 12451 sw5062;dbsnp18202 IMMT_HUMAN;NP_006830.2 "A294V,E435K,G37V,P124A,P124S,R484H,R525C,T431M" "0,0,0,0,0,0,0,0" 10989 3535 sw5063;dbsnp10931 F187B_HUMAN;NP_689694.1 "A49V,C160R,E170K,E303G,G183V,P3S,Q210H,Q315H,R241G,S23N,V216I" "0,0,0,0,0,0,0,0,0,0,0" 148109 9217 sw5064;dbsnp24919 IMPG1_HUMAN;NP_001554.2 "A386D,D211N,D216N,D793N,E709G,G424E,G463V,H518D,K569R,L322F,L649F,L740F,M1K,M439I,P410T,R580C,R58K,R59Q,R704W,R711H,S761N,T339N,T44A,T76A,V240I,Y349C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3617 3232 sw5065;dbsnp9117 RHG44_HUMAN;NP_055674.4 "K207R,V463M" "0,0" 9912 3098 sw5066;dbsnp27456 LONF1_HUMAN;NP_689484.3 "D406N,D662N,E330D,F631L,I265L,L289F,T758N,V110I" "0,0,0,0,0,0,0,0" 91694 3420 sw5067;dbsnp5451 EX3L4_HUMAN;NP_001071062.1 "A376S,D93E,G188A,H99Q,L185H,P712L,Q675R,Q685E,R143Q,R250W,R30W,R560C,R563W,R646Q,R77Q,R77W,T73M,V297M,V632M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91828 3859 sw5068;dbsnp5831 SYT16_HUMAN;NP_114120.2 "A536T,D33G,E214K,G343E,N82I,R131L,R229H,S514L,V10A" "0,0,0,0,0,0,0,0,0" 83851 4636 sw5069;dbsnp21965 CD026_HUMAN;NP_848592.2 "A40S,L121V,P30L,R109H,S93P,V91A,Y110H" "0,0,0,0,0,0,0" 152816 14237 sw506;dbsnp17671 PLXB2_HUMAN;NP_036533.2 "I1213V,I823V,K1384N,K318E,M959V,P1203L,R1538W,R463Q,R634H,S665C,T421I,T812A,V935I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23654 534 sw5070;dbsnp7999 KCD19_HUMAN;NP_001094385.1 "A798V,E675K,E750K,S140T,S732N,V391M" "0,0,0,0,0,0" 146212 2455 sw5072;dbsnp11583 FA98C_HUMAN;NP_777565.3 "C227G,T240K" "0,0" 147965 9681 sw5073;dbsnp23564;dbsnp23565 TIGD6_HUMAN;NP_001230182.1;NP_112215.1 "A73T,E443Q,I407V,I466T,L260P,L74F,L74V,N306K,N339T,N6D,Q327R,R59W,R67W,R9H,V268M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81789 6279 sw5075;dbsnp243 LIPR3_HUMAN;NP_001011709.2 "A145V,A380G,A380T,E367K,F332L,F450Y,L113M,L2F,Q370R,R281Q,R329T,R382G,S158F,S273Y,S289G,T232N,V216I,V381I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119548 7257 sw5076;sws653;dbsnp18043;dbsnp18044 GEN_HUMAN;NP_001123481.1;NP_872431.3 "D652A,E330K,E884D,I203V,K812R,K839E,K882E,N143S,P250L,R302H,R898C,S189N,S310N,S509W,S873R,S877Y,S92T,T680I,T817A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348654 2570 sw5077;dbsnp13070 COOA1_HUMAN;NP_690850.2 "A61E,A61V,D1512V,E340K,E462K,G1393S,G1423R,G1641S,G657V,G849A,H1513P,H354Y,I293T,K360R,M481L,M481V,P1067R,P151L,P460R,P546S,P623A,P731S,P896H,R641H,R7K,S1530N,T328K,V95M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 255631 624 sw5079;dbsnp20454 T183B_HUMAN;NP_001073277.1 "D95N,E132G,G35C,G6S,H108R,H108Y,M193V,N61S,R146C,R175Q,R205Q,R361Q,V39M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 653659 9070 sw507;dbsnp3951 RIMB2_HUMAN;NP_056162.4 "A113V,A133P,A133T,A275V,A502T,A77G,D69N,D724N,D888N,D993N,E609K,E975K,F476L,G258S,G880V,G893A,H592D,H635N,I296V,M342V,N343I,N520S,P593R,Q381R,R648W,R807H,T242M,T500N,V287M,V581I,V691I,V972I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23504 1885 sw5080;dbsnp7504 CP088_HUMAN;NP_001013009.2 "A266V,R28Q,R422W,V276A" "0,0,0,0" 400506 7436 sw5081;dbsnp2522 SC5AC_HUMAN;NP_848593.2 "C340F,K31N,M330I,P315L,V143L,V349M,V510L,V8I" "0,0,0,0,0,0,0,0" 159963 4935 sw5083;dbsnp6634;hgmd0613_2506 DOXA2_HUMAN;NP_997464.2 "L155V,P275L,Q245H,R100G,T256I" "0,0,0,0,0" 405753 6952 sw5084;sws654;dbsnp18766 LONF2_HUMAN;NP_940863.3 "A585T,A651T,D409H,H482N,L183P,L426P,S315P,T393A,Y247C" "0,0,0,0,0,0,0,0,0" 164832 3575 sw5085;dbsnp28793 MSMP_HUMAN;NP_001037729.1 "D86N,G116V,Q106K,R111P,T80M" "0,0,0,0,0" 692094 14100 sw5087;dbsnp2603 INSC_HUMAN;NP_001027024.3 "A415D,D329N,D333N,I416S,N444D,Q450R,R149W,R36H,R417H,R515H,V283I" "0,0,0,0,0,0,0,0,0,0,0" 387755 5427 sw5088;dbsnp7800 LRC36_HUMAN;NP_060766.5 "C376Y,E101A,E498K,G509S,G701S,P566L,R222P,R259C,S744G,V635M" "0,0,0,0,0,0,0,0,0,0" 55282 3576 sw5089;dbsnp12039 IZUM4_HUMAN;NP_001034935.1 "A161V,A2T,C228R,F38L,G169D,P215S,R131C,R198G,S148L,S160L,T182M,W177G,Y137F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 113177 12291 sw508;dbsnp5729 KHNYN_HUMAN;NP_056114.1 "D251G,G599E,G614D,H613R,K261T,K491R,Q220K,W270L" "0,0,0,0,0,0,0,0" 23351 4285 sw5090;dbsnp1425 T132A_HUMAN;NP_821174.1 "A969V,E824K,F857L,G598S,M836I,P774L,R110Q,R176H,R278Q,R330H,R481W,R699H,T357A,V460M,V691A,V706I,V859M,W897C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54972 2010 sw5091;dbsnp10496 TM241_HUMAN;NP_116322.3 "G9S,L131F,T43A,T43M" "0,0,0,0" 85019 10953 sw5093 1B82_HUMAN D186G 0 3106 7735 sw5094 1B67_HUMAN "A93R,E100V,E69G,I76V,I90K" "0,0,0,0,0" 3106 7735 sw5097 1C16_HUMAN "C157W,H153D" "0,0" 3107 7735 sw5099 2B1G_HUMAN R101A 0 3123 11408 sw509;dbsnp5562 TCPR2_HUMAN;NP_055659.2 "A1215T,A235V,A386T,E661K,F268L,G1331R,I683V,L597F,L684V,M1203I,N548K,N583I,P439S,P601L,P838L,Q252K,Q845E,Q981K,R980T,S1092L,S1129Y,S777N,T208I,T595M,V320I,V516M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9895 964 sw50;dbsnp18757 NBAS_HUMAN;NP_056993.2 "A1209P,A2074T,C1009S,C125G,C1453W,C1453Y,D1013E,D2264H,D365H,D844N,E1278G,E1966A,E2269K,F2130L,G703A,H1616R,H1704Y,H706Y,I1459V,I243V,I450V,K655R,L252F,L917S,M1608V,N394S,P131L,P1889T,Q1581K,Q44E,R1004Q,R1073C,R1131H,R1280Q,R1446Q,R1638H,R1697L,R1995Q,R2311H,S1178N,S1252Y,S1382G,S1478F,T1310A,T1410A,T2276M,T2280A,V1432I,V2350M,V568I,V592I,V949L,Y1023H,Y1951C,Y557H,Y932C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51594 276 sw5100 MICB_HUMAN "A383T,D105G,D136H,D136N,D75N,D88G,E215K,E39G,G291S,I121M,K80E,P68H,R279K,T212I,V300A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4277 8925 sw5101;dbsnp24239 MICA_HUMAN;NP_000238.1 "A101T,A383T,C59Y,C64R,D373A,E108G,F7L,G137R,G198S,G229S,G91E,H179L,H179R,K148E,K196E,K94Q,L145V,M152V,M174V,M98R,N79D,N79T,P294A,Q114R,Q274R,Q54L,R128K,R279S,R29P,R329C,R84T,R87G,R87K,S238T,S291G,T147S,T204R,T236I,T33M,T356M,T377A,T47A,V165I,V199I,V244L,V328I,V49G,W233R,W253S,W37G,W37R,Y231C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100507436 8925 sw5102;spmut371;dbsnp3340 CL12B_HUMAN;NP_001123470.1 "A8V,C140G,I55T,T6N,V116L" "0,0,0,0,0" 387837 11344 sw5104;dbsnp8838 K0753_HUMAN;NP_055619.2 "D444N,E375D,E375G,H201Q,I926M,K400E,K586E,L466P,P566L,Q896R,T445M,V501M,V79A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9851 2249 sw5106;dbsnp1582 QSER1_HUMAN;NP_001070254.1 "G744S,I1337T,N1018S,N1304D,N501T,Q644R,R1101C,V385I" "0,0,0,0,0,0,0,0" 79832 602 sw5107;dbsnp7545 CL16A_HUMAN;NP_056041.1 "D352N,G906E,S982N,S982T,T914P" "0,0,0,0,0" 23274 1881 sw5109;dbsnp21968 K1109_HUMAN;NP_056127.2 "A1311G,C1732R,D1951E,D3074E,E1282G,E3733D,I978T,M1388V,M2237V,M2983I,P192R,R2222W,S2521R,S316G,T4352A,T4786A,Y2549C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84162 33 sw510;dbsnp7367 SET1A_HUMAN;NP_055527.1 "A1264V,A755T,D1012Y,D2N,D639N,E124K,N50S,P1118R,P1136L,P1183A,P1411L,P596L,P626S,P937L,R1288C,S1013L,S341F,S356T,T271A,T274M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9739 634 sw5110;dbsnp8049;hgmd0613_1725 ZN423_HUMAN;NP_055884.2 "A1047V,A1113T,A41V,A434V,D491N,E838G,G1094S,G544V,G887S,L1068M,N629S,P390L,P98R,Q1284P,R1115W,R617Q,T1018M,T987M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23090 1195 sw5111;dbsnp6690;hgmd0613_2468 KIF7_HUMAN;NP_940927.2 "A571T,A997D,D52N,E629K,E779Q,E987K,G1005R,G1213S,G174R,G725S,H1115Q,L759P,N87H,P1315L,P1315S,P1333Q,P632L,Q834R,Q994R,R1021C,R1066C,R1068W,R1262W,R1266Q,R1305Q,R154Q,R641G,R687G,R702Q,R746W,R826W,R850L,R891T,R892H,S1075L,S1281I,S215R,S958I,T1109M,T1261N,T954M,V828M" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,1,0,1,0,0,1,0,0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 374654 1075 sw5112;dbsnp17349 ISX_HUMAN;NP_001008494.1 "A158V,A206T,G238V,P49S,P57S,R112H,R83Q,S28G,T182M" "0,0,0,0,0,0,0,0,0" 91464 12004 sw5113;dbsnp20015 RHG31_HUMAN;NP_065805.2 "G533R,G803S,I1115L,P221L,P274S,P567L,S712F,T1380I,T679I,T727I,V1366M" "0,0,0,0,0,0,0,0,0,0,0" 57514 910 sw5114;dbsnp13373 CCD27_HUMAN;NP_689705.2 "A305T,E583K,E583Q,G117S,G157E,K110E,K21E,L403P,L646R,M267T,M497I,N505H,P284S,P390L,Q477E,Q54E,R104K,R19W,R43C,R474W,R79Q,S163L,S214N,S294L,S580Y,S95L,T353M,T462M,T466M,T91M,W356R,W550R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148870 4522 sw5115;dbsnp7653 MTHSD_HUMAN;NP_001152849.1 "G19D,G315R,L45V,Q269E,R243C,S296C" "0,0,0,0,0,0" 64779 8926 sw5116;dbsnp9494 ODFP4_HUMAN;NP_694552.2 "M1T,N63T,R12K,R27K,R77C,V98M,W34R,Y139C" "0,0,0,0,0,0,0,0" 146852 11763 sw5117;dbsnp23057 CE064_HUMAN;NP_775938.1 "A57T,I40L,P122S,P90S,R101W,R37C" "0,0,0,0,0,0" 285668 14238 sw5118;dbsnp10907 FA83E_HUMAN;NP_060178.2 "G244S,P311L,R216H,R372H,T91A" "0,0,0,0,0" 54854 7038 sw5119;dbsnp8703 K1C24_HUMAN;NP_061889.2 "A115T,A223S,C415Y,G107R,G250D,G387A,K429E,M267I,N146S,N204S,N465D,R252Q,R366C,R366H,W418R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 192666 6208 sw511;dbsnp20874 TRNK1_HUMAN;NP_055646.2 "A1972T,D1223H,E1090G,E2737A,F2460L,H1051Y,H619R,I1185F,I2870V,K725N,M341V,N1476S,P153L,P703L,P871T,Q556R,Q697R,R1904H,R233H,S463G,T1268M,V1151L,V284A,Y537C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9881 156 sw5120;spmut16 AAK1_HUMAN "G835D,I59V,K509Q,P725T,P771R,Q533H,T694M,V603A" "0,0,0,0,0,0,0,0" 22848 2281 sw5121;dbsnp9341 CQ058_HUMAN;NP_858041.2 "E31V,I92V" "0,0" 284018 14696 sw5122;spmut1073;dbsnp16255 KIZ_HUMAN;NP_060944.3 "C293F,G601D,H139Q,H592Q,I309V,K548E,M170R,M236T,N257D,N333D,N575D,R86C,S321P,T129I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55857 4339 sw5123;dbsnp22376 CCD96_HUMAN;NP_699207.1 "E279G,E96K,K296N,K435N,R523W" "0,0,0,0,0" 257236 5767 sw5124;dbsnp1438 MPEG1_HUMAN;NP_001034485.1 "A13V,A467T,P316S,P405T,P490L,P552L,Q694R,S224F,T164I,T73A" "0,0,0,0,0,0,0,0,0,0" 219972 3907 sw5125;dbsnp3568;hgmd0613_1740 WASH7_HUMAN;NP_056090.1 "D17N,D639N,H822R,Q381K,R293Q,R721H,R821W,T152M,T599S,V323L,V901I,Y38H" "0,0,0,0,0,0,0,0,0,0,0,0" 23325 1495 sw5126 CK036_HUMAN "E6A,G142V,S135F" "0,0,0" 283303 13763 sw5127;dbsnp6443 CO027_HUMAN;NP_689548.2 "I141M,K456R,L368F,P427L,R391H,S329G,S6C,V93G" "0,0,0,0,0,0,0,0" 123591 6110 sw5128;dbsnp18583 SPKAP_HUMAN;NP_001136116.1 "A1328T,A295V,D1369N,D1504N,D233G,E1591K,G316E,G384R,G425R,G803S,H847Q,K612R,K617E,L1106P,L447P,N1266S,N195D,P277H,Q1265R,Q1435K,Q307P,Q382K,Q867R,R1419P,R49H,R816C,R893H,S1603R,S347F,S532G,S769F,S781N,T1599M,T780M,V157I,V1658L,V1658M,V663I,V90M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80309 642 sw5129;dbsnp11799 EX3L2_HUMAN;NP_612635.3 "D362E,N173D,P364A,R102H,R165Q,R169H,R75C" "0,0,0,0,0,0,0" 90332 8403 sw5130;sws655;dbsnp26263 ABCB5_HUMAN;NP_848654.3 K224R 0 340273 1125 sw5131;dbsnp23313 SHRM1_HUMAN;NP_001166171.1 "A593T,E592K,G649S,P180L,P440L" "0,0,0,0,0" 134549 2881 sw5132;dbsnp12951 SC5A9_HUMAN;NP_001011547.2 "A224V,A512V,A600V,A644E,G103R,G516R,I269M,L182S,L382R,L474V,M207T,M337V,P584L,R244W,R263W,S307L,S310R,T217M,V124I,V152M,V389M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200010 4033 sw5133;dbsnp26447 HYAL4_HUMAN;NP_036401.2 "A346S,A394T,A394V,C12R,I25V,L400V,M1V,P395L,P99L,R477Q,R83K,S404G" "0,0,0,0,0,0,0,0,0,0,0,0" 23553 6983 sw5134;dbsnp22965 SWAHA_HUMAN;NP_787069.3 "F545L,G94S,H325Q,P131L,R124P,V465I" "0,0,0,0,0,0" 134548 5853 sw5136;dbsnp9111;hgmd0613_2099 CTC1_HUMAN;NP_079375.3 "A227V,G414A,G503R,G721A,I1005V,I820V,L1142H,P599S,R840W,R975G,R987W,S83T,V259M,V665G,V871M" "1,0,1,0,0,0,1,0,1,1,1,0,1,1,1" 80169 1369 sw5137;dbsnp17478 SGSM1_HUMAN;NP_001035037.1 "A469T,G107V,G400D,I991V,L115V,P480L,R873K,S215L,T802P,V451L" "0,0,0,0,0,0,0,0,0,0" 129049 1562 sw5138;dbsnp10831 CS055_HUMAN;NP_001034976.2 "A325V,A427T,D17V,E471K,E66D,K365N,S240L,S302R,S474F,V166M" "0,0,0,0,0,0,0,0,0,0" 148137 7005 sw5139;dbsnp8990 TSR1_HUMAN;NP_060598.3 "A552T,D142N,E367D,H750Q,K199E,K727Q,N719S,P586A,Q411E,R314G,R497Q,R600C,S386G,T653P,T778I,V145I,V554G,V567I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55720 3179 sw5140;dbsnp16402 RGPA2_HUMAN;NP_065076.2 "C1262S,D540H,E189G,L1089F,L1357R,N1488S,P532L,Q592H,Q741L,R1605K,R969Q,S1392N,S492N,S519P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57186 506 sw5141;dbsnp26111 D19L1_HUMAN;NP_056098.1 "F362L,G502V,L81F,R118W,V137I" "0,0,0,0,0" 23333 3536 sw5142;dbsnp20984 ZXDC_HUMAN;NP_079388.3 "A126V,A53E,N552K,P562L" "0,0,0,0" 79364 2844 sw5143;spmut2257;dbsnp544 TYSD1_HUMAN;NP_775826.2 "D542A,E546D,G260R,G483E,H477Y,P562L,P562R,R396H,R539H,R543C,S20N,S478T,T65A,V461M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219743 5597 sw5144;dbsnp20036 TMM44_HUMAN;NP_001159777.1 "A240V,G301S,H24N,L307V,P147L,P411L,Q284R,R232C,R232G,R232H,R232S,R302C,R422Q,S159L,S277L,Y183C,Y94H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93109 7103 sw5147;dbsnp8985 KIF19_HUMAN;NP_694941.2 "A222T,A804T,D608N,E490K,L550P,L937P,R372Q,R388Q,R392W,R397W,R437W,R446C,R471W,R512L,R807H,R891W,R974Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124602 2117 sw5149;dbsnp9385 SMTL2_HUMAN;NP_001108446.1 "A162T,A260T,D382N,E461K,F175L,H194P,R191W,R459H,R76H,W251R" "0,0,0,0,0,0,0,0,0,0" 342527 7389 sw514;dbsnp24845 SYNJ2_HUMAN;NP_003889.1 "A1186T,A60V,D1024N,D1040N,D329N,E1080D,E1468G,E16K,G1037R,G712E,L707F,M534T,M534V,N526D,P1108S,P1112H,P1113T,P1213L,P1326L,P965L,Q1259H,R1079Q,R1181Q,R139H,R383Q,R392Q,R422H,R90G,R982Q,T1060N,T656M,V1075M,V1377I,V301M,V373I,V420L,V632I,V951M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8871 833 sw5150;dbsnp26004 VWC2_HUMAN;NP_940972.2 "A120G,E321Q,Q256P,S91R" "0,0,0,0" 375567 10265 sw5151 TUSC1_HUMAN N123D 0 286319 12695 sw5152;dbsnp1521 ATG2A_HUMAN;NP_055919.2 "A1533P,A241T,A279V,A404V,A627V,A663T,A857V,D396N,D723Y,D854N,E1262D,E1623K,G110V,G948R,L1702F,P656Q,P656R,Q1016H,Q562H,R1036H,R1212H,R1281H,R1621C,R1839C,R233H,R394C,R400L,R566H,R646C,R646H,R729H,S1534P,V1028M,V1611L,V175I,V1825I,V664M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23130 461 sw5153;dbsnp26943 ZN800_HUMAN;NP_789784.2 "A204T,D99G,I318V,L102V,P103S,P444H,R277H" "0,0,0,0,0,0,0" 168850 4435 sw5154 HKDC1_HUMAN "D54G,L204P,N917K,T124I,W721R" "0,0,0,0,0" 80201 2477 sw5155;dbsnp19943 KBTB5_HUMAN;NP_689606.2 "A499T,C617R,D80H,G425S,K291T,L33F,L580I,N345S,R38W,R612Q,T570M,V452A,V514M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 131377 4893 sw5157;dbsnp1488 C19L2_HUMAN;NP_689647.2 "D594G,G537R,H443Y,H445Q,I835T,K686Q,P210T,P685S,Q147H,Q190H,Q570P,Q763R,R21Q,R284W,R46C,V162I,Y764C,Y894C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 143884 2641 sw5158;dbsnp3886 WSCD2_HUMAN;NP_055468.2 "A306T,A50V,D241N,E307D,R203Q,T266I,T286N,V546M" "0,0,0,0,0,0,0,0" 9671 5484 sw5159;dbsnp26449 COSA1_HUMAN;NP_001032852.2 "A189G,A472P,A530V,E433D,G182E,G360V,G383R,I239V,I437M,P677T,Q882L,R297L,R741Q,S1114I,T1039M,T327S,T903A,T903N,Y135H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340267 1638 sw515;dbsnp3852 ZBT39_HUMAN;NP_055645.1 "A310V,A514V,A706V,C276R,I359L,K375R,P206L,P689A,R160L,R160Q,R338W,R569Q,V557I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9880 3946 sw516 SYNEM_HUMAN "F1462C,G462S,R338W,R946W" "0,0,0,0" 23336 763 sw5161;dbsnp23501 KIF4B_HUMAN;NP_001092763.1 "A252T,D317V,E494Q,I220V,I465L,I816L,K851E,L437F,M522I,N81D,Q448R,R1029H,R580L,R680H,T757I,V112A,V441A,V755I,Y684C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285643 1328 sw5162;dbsnp12815 CR1L_HUMAN;NP_783641.1 "A221V,A395S,C207Y,G263V,G497E,H431Y,I139V,I455V,I554T,L491P,N402D,R116G,R128Q,R97C,S133L,V500I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1379 245 sw5163;dbsnp17387 F211B_HUMAN;NP_997527.2 "A183V,E308K,G130A,P81L,R115L,R226C,R266Q,S110L,S140R" "0,0,0,0,0,0,0,0,0" 388886 10523 sw5165 SKOR2_HUMAN F947C 0 652991 2103 sw5166;dbsnp6497 PRTG_HUMAN;NP_776175.2 "A749T,E104D,E561D,G580S,I1062L,K157R,K977T,L1150F,M116V,N1025Y,P13S,P419L,T236A,V636L,V826L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283659 1556 sw5167;dbsnp11761 ZN284_HUMAN;NP_001032902.1 "C250Y,E577K,K546E,R275Q,R407I,Y33H" "0,0,0,0,0,0" 342909 4016 sw5168;dbsnp12261;hgmd0613_599 CEA16_HUMAN;NP_001034302.2 "A349T,E118K,F15L,S103L,S180F,T140P" "0,0,0,0,0,1" 388551 8036 sw5169;dbsnp27756 KLH38_HUMAN;NP_001075144.2 "A199T,C504Y,D15N,E412K,G310S,G394R,H98R,I334V,K508E,N352Y,P368S,R346K,V267I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 340359 5393 sw5170;dbsnp27748 FR1L6_HUMAN;NP_001034201.2 "A840T,D1110E,F2S,F310L,G943W,I135T,I87K,R1720Q,R1851Q,S375I,S805F,S946T,T1617I,T591I,V1030M,V994G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 654463 520 sw5171;dbsnp17570 GAB4_HUMAN;NP_001032903.1 "A281T,A519V,E414D,I147M,L273P,P370L,Q469P,S526N,W206C" "0,0,0,0,0,0,0,0,0" 128954 5498 sw5172;dbsnp3995 S4A8_HUMAN;NP_001035049.1 "D206E,D312A,I898V,N412S" "0,0,0,0" 9498 1383 sw5173;spmut2340;dbsnp21934 UVSSA_HUMAN;NP_065945.2 "A175V,A328T,A678T,A688T,C32R,C345F,D148E,D209Y,D288N,D405N,E37D,G355R,G574S,G598E,P205T,P600L,P620L,Q317H,R115W,R19Q,R239Q,R246Q,R246W,R330C,R337W,R391H,R445W,R498Q,R498W,R550W,R611W,R691Q,S34F,S6L,T194M,T214M,V293M,V454G,V631L" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57654 3982 sw5175;dbsnp24406 DRB5_HUMAN;NP_002116.2 "A102G,A103E,A103G,A103L,A103P,A103V,A133S,A169P,A169S,A169T,A244T,A29S,A87D,A87E,D31G,D59G,D59H,D59V,D66A,D66N,D66V,D66Y,D70N,D86G,D86N,D86V,D99E,D99G,D99H,D99N,D99Q,D99R,E125D,E125Q,E167K,E216Q,E43K,F47L,F55I,F55L,F55Y,F69Y,F96I,F96L,G115V,G154A,G30R,G30V,H110Y,H260Q,H45Y,H57L,H57Q,I248L,I60F,I60V,K127E,K14E,K14M,K14N,K14Q,K14R,K14T,K14V,K251R,K41T,K5R,L28F,L28S,L67V,M12L,M20T,N149S,N62H,P212A,P212L,P25R,Q178H,Q38R,Q39E,Q39H,Q39L,R100A,R100G,R100K,R100S,R100T,R101G,R134K,R195Q,R33Q,R35C,R54Q,R54W,R77Q,S164G,S24F,T106N,T135A,T137P,T186I,T210M,T262K,T80R,V114A,V188M,V204L,V209L,V209M,V232I,V265L,V73L,V73M,Y107D,Y107F,Y107S,Y107V,Y11N,Y42C,Y42F,Y42H,Y42S,Y61H,Y76F,Y89S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3127 11408 sw5178;dbsnp16501 DB116_HUMAN;NP_001032820.1 "D86Y,Q19L,S28T" "0,0,0" 245930 14619 sw517;dbsnp29063 ZBTB5_HUMAN;NP_055687.1 "A246V,A257T,A74T,D300G,I214V,N243D,N282H,R139H,V389A" "0,0,0,0,0,0,0,0,0" 9925 4294 sw5182;dbsnp100 BTBDG_HUMAN;NP_653188.2 "A444V,A50V,C58Y,E231K,E68Q,G331D,H439P,I423M,Q472R,R14Q,R14W,R21W,R314Q,R318Q,R342W,T485I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118663 6544 sw5183;dbsnp6498 CO032_HUMAN;NP_694585.1 "A17T,I115V,L85F,S46T" "0,0,0,0" 145858 13395 sw5184;dbsnp6778 F214A_HUMAN;NP_062546.2 "E724Q,K649E,K668E,Q135R,T597M,T610A,V207A,V560I" "0,0,0,0,0,0,0,0" 56204 1795 sw5185;sws656;dbsnp7827 MYLK3_HUMAN;NP_872299.2 "A104V,E481K,E768A,G269S,I654V,S536T,S70T,S818F,T817N,V180L,V485M" "0,0,0,0,0,0,0,0,0,0,0" 91807 3092 sw5186;dbsnp9318 ZN750_HUMAN;NP_078978.2 "A142T,A441T,A657G,A662T,D432H,D99N,G277R,M235V,M673K,M673V,N435K,N93D,P288L,P564L,Q392R,R158Q,R664G,S461N,T122N,V478I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79755 3850 sw5187;sws657;dbsnp18372 LRRF1_HUMAN;NP_001131024.1 "D546H,E258G,E421Q,E609K,E748K,G313R,H227N,H783D,K633E,M394V,N418S,N499K,P645L,P734L,P734S,Q275R,R690T,R779G,R79C,S228R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9208 3154 sw5188;dbsnp10422 CR021_HUMAN;NP_113634.3 "P140S,S31W,T132A" "0,0,0" 83608 12528 sw5189;dbsnp13998;hgmd0613_2023 P3H1_HUMAN;NP_071751.3 "G349R,M549I,P506R,Q644K" "0,0,0,0" 64175 3182 sw518;dbsnp9216 PUR4_HUMAN;NP_036525.1 "A1225T,A183V,A466T,A557T,A616T,A782V,A827V,E434K,F1314C,F481Y,L127F,L621P,M166V,N1175S,N361S,N887S,P19S,P367L,P585R,P617S,Q1269H,R206H,R596Q,T548I,V1238I,V1238L,V241M,V343M,V661M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5198 1088 sw5190;dbsnp5710 TRM5_HUMAN;NP_065861.2 "A398T,A428V,A45V,E131V,E294A,E367Q,H179N,I24V,L255P,N245S,P487S,R212Q,S157C,S217P,S409R,T494M,V33I,V384I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57570 6484 sw5191;dbsnp2450 EMAL3_HUMAN;NP_694997.2 "D417G,D470G,Q620K,R190H,R269H,S893Y,V379L" "0,0,0,0,0,0,0" 256364 2631 sw5192;dbsnp4921;dbsnp4922 RA1L2_HUMAN;NP_001011724.1;NP_001011725.1 "F34S,G203D,G224S,G227S,G258E,N215D,N261S,Q12E,R218C,V45L,Y289C,Y305C" "0,0,0,0,0,0,0,0,0,0,0,0" 144983 9027 sw5194;dbsnp4277 RFX4_HUMAN;NP_998759.1 "A52T,A562T,A693V,R322W,R476W,R708H,S257C,S687N,S698A" "0,0,0,0,0,0,0,0,0" 5992 3666 sw5195;spmut1138;dbsnp6650 LRRK1_HUMAN;NP_078928.3 "A1803T,A1814T,A461T,D1927G,E2002K,G1938D,G1938E,I224V,K203E,L1824F,L416M,M102I,M1735V,P1796H,P543S,P703L,R1850C,S1847N,S1855A,S940C,T1883M,V697I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79705 419 sw5196;dbsnp7446 GFOD2_HUMAN;NP_110446.3 "A150T,A289T,D58N,D58Y,E47D,G231V,G87D,R325C,S333F,V83L" "0,0,0,0,0,0,0,0,0,0" 81577 8811 sw5197;dbsnp18802;hgmd0613_2155 F161A_HUMAN;NP_115556.2 "C404Y,E273K,E652K,I107M,I236V,L378R,Q385E,Q525K,R380Q,T66I" "0,0,0,0,0,0,0,0,0,0" 84140 3911 sw5198 NBPF1_HUMAN "A510T,C591G,H712D,I20M,K726E,N31K,Q734P,Q850K,R663C,V612M" "0,0,0,0,0,0,0,0,0,0" 55672 98 sw5199;dbsnp5986 ACOT6_HUMAN;NP_001032239.1 "A13V,E166K,H52R,I70V" "0,0,0,0" 641372 6944 sw519;dbsnp26090 NACAD_HUMAN;NP_001139806.1 "A1019V,A1056V,A601V,A841V,C1152F,C1507S,D1105E,D438E,D612E,E652D,E98V,G1049A,G3R,G633D,I625L,I825L,K591E,L105V,L665I,L745I,N1555K,P587S,P857S,P865L,P865T,P897S,Q1321P,Q158P,Q966H,R1427Q,R7C,S211L,S734L,S894L,T1060P,T1404S,V498A,V580I,V580L,V641A,V961M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23148 766 sw51;sws2;dbsnp9064 CQ066_HUMAN;NP_689994.2 "F52L,G229V,G257R,H325Y,H546Q,I117N,I424V,I568T,K33N,M312T,P63L,Q420H,R176H,R432H,R544Q,R563Q,S125N,S273L,S480F,S541L,T141I,T533M,Y3C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256957 5545 sw5200 PTHD3_HUMAN "A224G,C407G,D473G,L152P,M521T,M584I,R372K,T126A" "0,0,0,0,0,0,0,0" 374308 3459 sw5201;dbsnp22282 SOAT_HUMAN;NP_932069.1 "G109S,G294R,H364Q,I114V,L204F,R185T,S38A,S6F,T168A,V199I" "0,0,0,0,0,0,0,0,0,0" 345274 9037 sw5204 CEA21_HUMAN "M198V,T121N" "0,0" 90273 11021 sw5205;dbsnp13778 MA7D1_HUMAN;NP_060537.3 "G522R,L170M,Q729E,Q729K,R104W,R110P,R110Q,R181Q,R201Q,R433W,R531G,R531S" "0,0,0,0,0,0,0,0,0,0,0,0" 55700 2950 sw5206;dbsnp11501 ZN792_HUMAN;NP_787068.3 "A295T,A570G,D370N,D41N,D95G,E214K,G453D,K317R,L269F,M43T,N425D,Q118K,R140H,R177Q,R525W,V631F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126375 4770 sw5207;dbsnp28522 UAP1L_HUMAN;NP_997192.2 "A319V,E234K,E44K,L494V,P373S,V211F" "0,0,0,0,0,0" 91373 6252 sw5208;spmut1555;dbsnp3367;dbsnp3368 PKHG6_HUMAN;NP_001138328.1;NP_060643.2 "A286T,A35T,D468E,D663N,G254A,H8Y,I244T,L410V,M201T,P542S,P635H,R220Q,R256W,R275Q,R41Q,R52H,R607C,R607H,R609C,R731C,R75Q,Y43N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55200 3285 sw5209;dbsnp18211 CB076_HUMAN;NP_001017927.2 "I46V,K116R" "0,0" 130355 14310 sw520;dbsnp21764 ATS3_HUMAN;NP_055058.2 "A420D,G25V,G298R,N585S,N942S,N98S,P1097S,P1148L,P513T,R1196C,R137W,R138K,R565Q,R943H,S1074P,S1122N,V153M,V395I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9508 1342 sw5211 UBP41_HUMAN "N325S,Y130C" "0,0" 373856 9170 sw5212;dbsnp17066 KR251_HUMAN;NP_001122070.1 "S40P,Y68C" "0,0" 100131902 14620 sw5213;dbsnp17054 KR192_HUMAN;NP_853639.1 "C19F,G29R,G32C,Y5H" "0,0,0,0" 337969 14805 sw5214;dbsnp17053 KR198_HUMAN;NP_001092689.1 A61T 0 728299 14805 sw5215;dbsnp17068 KR202_HUMAN;NP_853647.1 "V17G,Y13C,Y7H" "0,0,0" 337976 5250 sw5216 KRA63_HUMAN Y51S 0 337968 14539 sw5217;dbsnp17023 KR194_HUMAN;NP_853641.1 "G45R,R50H,Y48C,Y54C" "0,0,0,0" 337971 14805 sw5218;dbsnp17031 KR151_HUMAN;NP_853654.1 "C136Y,L43M,P124L,T40A" "0,0,0,0" 254950 13456 sw5219;dbsnp16954 KR134_HUMAN;NP_853631.1 "A59T,F10I,G96D,G96S,N4Y,R13H,R154H,R67H,R93H,W56R" "0,0,0,0,0,0,0,0,0,0" 284827 13456 sw521;sws49 DCLK1_HUMAN R292H 0 9201 3335 sw5220;dbsnp17001 KR271_HUMAN;NP_001071179.1 "A99V,C95Y,G83R,L176P,L18F,R156C" "0,0,0,0,0,0" 643812 12807 sw5221;dbsnp8644 ADPRM_HUMAN;NP_064618.3 "E337G,L202F,L92R,M96V,R324K,R42W,V22I" "0,0,0,0,0,0,0" 56985 9851 sw5222;dbsnp1893 DHAK_HUMAN;NP_056348.2 "A185T,A334G,A474V,A502V,D497N,G192R,G292R,L146P,L316H,M304I,R115Q,R122W,R227H,R291H,R35L,R373Q,R410C,R567W,V200I,V352G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26007 5483 sw5223;dbsnp9760 LSM12_HUMAN;NP_689557.1 "E112D,P77R,V173L" "0,0,0" 124801 13075 sw5224;spmut2108;dbsnp29586 TBC25_HUMAN;NP_002527.1 "A455T,N277S,N277T,R263H,R635H" "0,0,0,0,0" 4943 4184 sw5225;dbsnp10818 RGL3_HUMAN;NP_001030300.2 "A164V,A252G,A689T,D85N,E699Q,F682L,G363R,G626R,I328L,L196S,M117L,P115S,P162H,P541L,Q649R,R338Q,R500Q,R524H,R615C,R697W,V78G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57139 3910 sw5226;dbsnp7796 IPIL2_HUMAN;NP_001030013.1 "C237S,H245L,H429Q,P286S,P522S,R342L,R400H,T6I" "0,0,0,0,0,0,0,0" 162073 6054 sw5227;dbsnp10857 ZN528_HUMAN;NP_115799.2 "A28V,D387G,E406K,E448K,G443A,G560E,K150T,K283E,L115V,N507Y,Q286P,Q540R,R365H,R405G,S419N,S478Y,T57S,Y353H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84436 4814 sw5228;dbsnp16909 KR221_HUMAN;NP_853651.1 "L26H,L26R,Y29C" "0,0,0" 337979 14935 sw5230;dbsnp27728 ADCK5_HUMAN;NP_777582.3 "G118A,L79F,Q96R,R177W,R17S,R521Q,V568L" "0,0,0,0,0,0,0" 203054 5406 sw5231 WDR72_HUMAN "K399Q,K781E,L819F,M100V,Q479H,S833A" "0,0,0,0,0,0" 256764 1701 sw5233;dbsnp12109 OD3L2_HUMAN;NP_872383.1 "A273S,R112W,R287C,T275M,V135A" "0,0,0,0,0" 284451 11119 sw5234;spmut909;dbsnp7698 HSDL1_HUMAN;NP_113651.4 "N260S,P248S,R16S,S327C,T114M" "0,0,0,0,0" 83693 10143 sw5237 ZN718_HUMAN "K140N,K140R,R413H,S297Y" "0,0,0,0" 255403 1203 sw5238;dbsnp16615 TTLL9_HUMAN;NP_001008409.1 "C78R,G398E,G71R,I214L,R181C,T274M,Y76C" "0,0,0,0,0,0,0" 164395 7785 sw5239 T10IP_HUMAN "A210V,R237S,R305P,S292N,V521M" "0,0,0,0,0" 254187 5755 sw523;dbsnp20913 ERC2_HUMAN;NP_056391.1 "H240Q,N10S,N353I,N542S,N807T" "0,0,0,0,0" 26059 2294 sw5241 S2552_HUMAN L239I 0 147407 10929 sw5242;dbsnp9649;dbsnp9650 SP6_HUMAN;NP_954871.1;NP_001245177.1 "A346V,E337Q,Q97K,V156I" "0,0,0,0" 80320 9071 sw5243;sws662;dbsnp23245 UD3A2_HUMAN;NP_777574.2 "A344T,A436T,D140N,F93L,G494W,G61S,H322L,M39I,N52S,P389L,R445C,V511I,Y474C,Y74N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 167127 6234 sw5244;dbsnp3344;hgmd0613_2210 K2C71_HUMAN;NP_258259.1 "A13T,A400T,D146N,E118K,E122K,E437G,G42S,G493R,G90R,I355F,K217R,P450A,R305C,R468Q,R468W,R523Q,R523W,S349L,T459S,V107I,V212I,V285I,V464G,V472F,V487E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 112802 4648 sw5245;dbsnp1448 MOGT2_HUMAN;NP_079374.2 "C313Y,I288V,L121M,L7F,M9V,N237S,P196H,R136C,R13H,S297L,T200M,T35I,T94N,V210I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80168 10025 sw5247 GON4L_HUMAN Q1539E 0 54856 321 sw524;dbsnp13162 ARHGB_HUMAN;NP_055599.1 "A475T,D20G,E823K,F332L,G1353R,G222D,H1427R,I838V,K452R,M1090I,M1424L,P1097S,R211W,R447H,R73Q,S1372P,S1416G,S1505C,T1513I,V1092I,V1422A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9826 768 sw5250;dbsnp26160;dbsnp26161;dbsnp26163 T176B_HUMAN;NP_001094782.1;NP_001094781.1;NP_054739.3 "A108T,A134T,D52V,E63Q,F171L,G40E,P156A,P55S,R180W,S18T,S56F,S94R,T70A,V23I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28959 11480 sw5252;dbsnp629 TBB8_HUMAN;NP_817124.1 "A110T,A313V,C303R,H105R,I169V,I4L,I9T,I9V,K103E,K213R,L130P,L345F,M113T,Q134H,R276Q,R359W,S78L,W101S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347688 7569 sw5253;dbsnp22900 AX2R_HUMAN;NP_001014301.1 "F177L,I27M,Q119R,R186W" "0,0,0,0" 389289 13121 sw5254;dbsnp6920 F174B_HUMAN;NP_997329.2 S116L 0 400451 13739 sw5255;dbsnp20604 KBTBC_HUMAN;NP_997218.2 "D594E,N98K,Q219H,Q22K,S459N,V304L" "0,0,0,0,0,0" 166348 4865 sw5256 CA177_HUMAN Y205H 0 163747 8200 sw5257;dbsnp10930 ZN568_HUMAN;NP_940941.2 "I148L,M437T,Q642R" "0,0,0" 374900 4652 sw5258;dbsnp26475 AMZ1_HUMAN;NP_597720.1 "A172V,A288G,A288P,A389T,C246S,E201K,E235K,E313K,E421D,G159S,G361S,I312T,L250P,P394L,R290W,R291Q,R409W,R439C,R491H,S162T,S456R,S460N,S488L,T444M,V204I,V227A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 155185 6697 sw5259;dbsnp8976 ZACN_HUMAN;NP_851321.2 "A107T,A152T,E124K,F27S,G344E,K326N,L216P,L292M,N322K,N39D,P165H,R257W,R95C,S169N,T229M,V203I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 353174 8336 sw525;dbsnp5860 MRRP3_HUMAN;NP_055487.2 "A229V,A414G,A434D,D458N,E228K,H492R,K385N,N437S,Q54R,R421C" "0,0,0,0,0,0,0,0,0,0" 9692 5361 sw5261;dbsnp1962 CC153_HUMAN;NP_001138490.1 "G135R,K189E,K8N,L197P,M98V,R101H,R113Q,R137Q,R187K" "0,0,0,0,0,0,0,0,0" 283152 12743 sw5263 ZN404_HUMAN H233Y 0 342908 4279 sw5264;dbsnp20878 TIGIT_HUMAN;NP_776160.2 "A162T,G244D,H223R,I33V,K82M,T164N" "0,0,0,0,0,0" 201633 12032 sw5265;dbsnp6943 AKD1A_HUMAN;NP_874362.3 "A141V,E120Q,G180D,K355E,L147M,L259Q,N476D,P238R,R210Q,R366C,R366H,R405Q,R87C,S270L,S413Y,T161M,T505M,V320M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348094 6256 sw5266;dbsnp22333 RN212_HUMAN;NP_001124506.1 "A152G,G214R,S121R,T248A,V263I" "0,0,0,0,0" 285498 10930 sw5267 CL036_HUMAN "A76E,I84V,P38L" "0,0,0" 283422 14120 sw5268;dbsnp23576 S36A2_HUMAN;NP_861441.2 "A348V,A445V,C108Y,D171G,D471N,G317A,G87V,H129Y,H144Y,L77I,R202Q,R219W,R320W,R372W,S26G,S304F,T196I,T264S,T416N" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 153201 6581 sw526;spmut950;dbsnp297 IKKA_HUMAN;NP_001269.3 "I307V,N733S,P685L,S126C,V155A,V268I" "0,0,0,0,0,0" 1147 3554 sw5270;dbsnp23106 S36A3_HUMAN;NP_861439.3 "A114D,A81T,E39K,E415D,G18R,G83E,I261T,K167E,L203S,L413I,P185S,R190H,R390H,S421F,V170M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285641 6459 sw5271;dbsnp14014 MMEL1_HUMAN;NP_258428.2 "A99T,D701E,D708N,E323Q,G706S,H741Y,H763Q,I678T,K596N,M258L,M518T,P368T,Q302R,R125Q,R230H,R246Q,R274W,R289W,R414I,R556Q,R685Q,R728Q,S742G,T761M,V456I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79258 3369 sw5272;dbsnp793 FUT11_HUMAN;NP_775811.2 "A45V,D400G,L10V,P178L,P41T,R398Q,S51A,T187S,V391I,V8A" "0,0,0,0,0,0,0,0,0,0" 170384 6807 sw5274;dbsnp25163 SPAS1_HUMAN;NP_659463.1 "D102V,E268D,G140E,G8R,H219Q,K134T,R142C,T137M,V95I" "0,0,0,0,0,0,0,0,0" 221409 10852 sw5275;sws664;dbsnp8666 CLM2_HUMAN;NP_852114.2 "A201T,A86T,G158R,K19T,L4F,P140S,T133A" "0,0,0,0,0,0,0" 342510 12852 sw5276;dbsnp22950 SV2C_HUMAN;NP_055794.1 "D543N,E277K,F237S,N565K,S332F,T482S" "0,0,0,0,0,0" 22987 3685 sw5277;dbsnp13348;dbsnp13349 SLNL1_HUMAN;NP_001161719.1;NP_659427.3 "A30T,A43T,A46V,D299N,D340N,G255S,L318F,P3S,R128S,R144T,R191W,R229P,R276H,R322H,T48S,V344A,W364R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200172 8436 sw5278 GLYR1_HUMAN "H459Q,N103D,Y531C" "0,0,0" 84656 5792 sw5281;dbsnp14939 ZN642_HUMAN;NP_940896.2 "E12K,E157K,E328V,F226Y,F308L,I238T,L100V,N235H,R471H,T270N,V113L,V52I" "0,0,0,0,0,0,0,0,0,0,0,0" 339559 6076 sw5282;dbsnp1609;dbsnp1610 ZBED5_HUMAN;NP_001137139.1;NP_067034.2 "A17V,A354V,I480V,N199S,P180T,P565T,P77S,Q47R,R410G,T15K" "0,0,0,0,0,0,0,0,0,0" 58486 4134 sw5283;dbsnp27605 F135B_HUMAN;NP_056996.2 "D846N,G922D,I477V,I845V,K853E,K876E,L918F,P482L,P568S,P976L,Q806E,R884C,R884H,S578N,V1142I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51059 971 sw5284;dbsnp3415;dbsnp3416 MTER3_HUMAN;NP_001028222.1;NP_079474.2 "A31V,A81G,E128Q,K54N,L14V,P24A,V198I" "0,0,0,0,0,0,0" 80298 8890 sw5285;dbsnp18499 TTC31_HUMAN;NP_071937.4 "A129T,A28V,G36C,G402D,H349R,L438H,P212S,P432S,P452R,R253C,S139N,T205P,V325M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64427 6327 sw5286;dbsnp23691 CE022_HUMAN;NP_060826.2 "A183V,D405E,L390S,L423V,N287S,R12P,R424H,T235P,V127A" "0,0,0,0,0,0,0,0,0" 55322 7722 sw5287;dbsnp21811 MAP9_HUMAN;NP_001034669.1 "A264T,D3H,H294N,I144K,I220T,I32V,I424V,K227N,K499R,L332P,L381M,M146V,N601D,P215T,P391L,R177W,S363P,S384C,S97P,T241A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79884 4615 sw5288;spmut343;dbsnp18908 CERKL_HUMAN;NP_001025482.1 L232F 0 375298 5720 sw5290;dbsnp1822 1A1L2_HUMAN;NP_001027025.2 "A556V,C529R,G322D,M1I,R50G,R73H,T292P,V236M,V45M" "0,0,0,0,0,0,0,0,0" 390110 5572 sw5291;dbsnp18655;dbsnp18657 GTDC1_HUMAN;NP_001158101.1;NP_001006637.1 "D171E,D253G,E24V,E397K,G275D,H183R,H294R,H443R,I163T,I330N,L190R,M130T,M137I,M200V,P400R,P436L,Q22K,Q233K,S136F,T250S,V127F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79712 7437 sw5292 SV421_HUMAN I9N 0 51111 2692 sw5293;dbsnp26515 F188B_HUMAN;NP_115598.2 "A355V,C465Y,D183A,G527R,L260P,L53R,M655V,N729S,P169L,P220S,R246W,R324K,R36C,S200Y,S262L,S392L,T322M,Y228C,Y546C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84182 3542 sw5294;dbsnp20621 SL9C1_HUMAN;NP_898884.1 "A1057S,C989R,F628C,F986L,G826S,H202R,H673Y,I1131S,I158V,I286V,I348M,I364V,I856N,L331F,M844V,N676S,Q1081K,Q732K,R602H,S188R,S768I,S932L,T203I,T424A,T705I,V1058A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285335 1489 sw5295 HYDIN_HUMAN "A3291P,A3739T,A4026T,D2570N,E2306G,E2937K,E2994G,E4160Q,G2558E,G4520S,H4270Y,I1077V,I1534V,I2694S,K2530E,K2589R,K4088R,K4412E,L2502S,L3316P,M3869R,M4552L,N2445I,N4606K,N724D,P2455Q,P2932L,Q2242R,Q2276R,R1892H,R1952Q,R2087C,R2298G,R2939K,R3811H,R451P,R4869Q,S4363C,T3116R,T4005A,T584N,T690A,V1228L,V1718M,V2099M,V3742I,V3840L,V3899M,Y3269D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54768 28 sw5296;dbsnp19246 C27C1_HUMAN;NP_001001665.3 "F160C,G361R,T359M,Y34H" "0,0,0,0" 339761 9163 sw5297;dbsnp23523 CC152_HUMAN;NP_001128320.1 "I12M,R251H,T233I" "0,0,0" 100129792 11819 sw5298 PCDP1_HUMAN "M795I,V637I" "0,0" 200373 2957 sw5299;dbsnp9009 CCD40_HUMAN;NP_060420.2 "A378T,A630V,A8P,E382K,E80V,G48S,L752P,P751T,R370H,R870C,R967H,R967L,V1114M,V775M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55036 1576 sw52;dbsnp3400;dbsnp3401 TESP1_HUMAN;NP_001129502.1;NP_001092285.1 "D483N,E496K,G141R,H511P,I287V,P389S,Q331R,Q462K,R19H,R475Q" "0,0,0,0,0,0,0,0,0,0" 9840 6277 sw5300;dbsnp27906 MCMD2_HUMAN;NP_775789.3 "A530E,A530V,A531G,A56V,A9V,C578G,I87S,I87V,I98V,L322V,M130T,M137K,P524S,Q423H,R148T,R215C,R336H,S583A,T94M,V435A,Y40C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157777 4258 sw5301;dbsnp8720 HSF5_HUMAN;NP_001073908.1 "A309G,D212N,E369K,G507E,N329T,P531L,S473N,V188I" "0,0,0,0,0,0,0,0" 124535 5182 sw5302;dbsnp27536 FBX43_HUMAN;NP_001025031.2 "P139L,P139R,S23N,V324A,V368A" "0,0,0,0,0" 286151 3996 sw5303;dbsnp7639;dbsnp7640;dbsnp7641;hgmd0613_2403 ACSF3_HUMAN;NP_001120686.1;NP_777577.2;NP_001230208.1 "A17P,E359K,G361S,G366R,G480S,G90D,H248R,I200M,K462T,L2P,M198R,M266V,P243L,P285L,R286W,R39H,R434P,R434Q,R469Q,R471Q,R471W,R49C,R558W,T358I,T479N,V372M" "0,1,0,0,1,0,0,0,1,0,1,0,1,0,0,0,0,0,0,1,1,0,1,1,0,0" 197322 5467 sw5304;dbsnp1540 CDON_HUMAN;NP_001230526.1 "A535T,A686V,D1275H,D619H,E162K,G259R,G364R,H1086Q,I1244N,I798V,K66R,N1055S,P249L,P351A,P647L,P689A,R1187C,R437H,R540T,R616Q,R760Q,R806W,R821H,S1064G,S1064N,S463P,S875G,S940R,T684S,T790A,V1176I,V476I,V691M,V75I,V780E,V795I,V975I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,1,1,1,0,0,1,0,1,0,0" 50937 1189 sw5305;dbsnp3664 ANO6_HUMAN;NP_001020527.2 "A128T,C364W,D858N,E16D,I32F,L780I,M554I,M728T,M886V,P818L,R425Q,R648L,R648Q,R896Q,V892L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196527 2429 sw5307;dbsnp20019 FIL1L_HUMAN;NP_878913.2 "A85V,A884P,N1097K,R1038Q,R168H,S343T,S464N,S629C" "0,0,0,0,0,0,0,0" 11259 1599 sw5308;dbsnp21699 ACSF4_HUMAN;NP_861522.2 "A643D,A643T,A705V,A747V,C946Y,D157V,D243Y,D414G,D650N,E112G,E178G,E415V,H190D,H197L,H701N,H8Q,I456V,I61V,I787V,K368R,P359S,P734L,P93R,R223L,S255R,S974P,T264P,T865A,V631I,V774I,Y1030D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 132949 1719 sw5309;dbsnp28451 SVEP1_HUMAN;NP_699197.3 "A2750E,A2750V,D2022E,D2638N,D2702G,D359E,D54G,D693E,E1810A,E2531K,E3412Q,F3161I,G2293D,G2293V,G332A,G428S,H3338R,I1157V,I2922V,I3426V,I617V,I637V,K1416Q,K899R,L1330M,L1648V,L2754S,L3506F,M1444L,P3230T,P444L,Q1352R,Q581H,R1953K,R229G,R3484C,R492Q,R997H,R997P,S1846T,S1896C,S2048P,S2092G,S3127P,T1878I,T1975K,T2607A,T3301I,T3559M,V507I,V775I,W2661R,Y1063H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79987 97 sw5310;dbsnp6291;hgmd0613_2139 DNAL1_HUMAN;NP_113615.2 "L139V,N150S" "0,1" 83544 13164 sw5311;dbsnp23001;dbsnp23002 CTXN3_HUMAN;NP_001041717.1;NP_001120857.1 "E17K,E17V,L71M,M23I" "0,0,0,0" 613212 14817 sw5312;dbsnp27883 AARD_HUMAN;NP_001020528.1 "A86T,F113S,G96R,G96S,I45S" "0,0,0,0,0" 441376 13812 sw5313;dbsnp3276 RM51_HUMAN;NP_057581.2 "H69Y,L117F,L38F,L38V,M102I,P29L" "0,0,0,0,0,0" 51258 14278 sw5314;spmut1856;dbsnp2472 S22A6_HUMAN;NP_004781.2 "A190T,A256V,I226N,I226T,L7P,N60K,P104L,R293W,R50H" "0,0,0,0,0,0,0,0,0" 9356 5632 sw5315;dbsnp4044 TM119_HUMAN;NP_859075.2 "I72T,L62F,P60L" "0,0,0" 338773 11219 sw5316;dbsnp4387 BCL7A_HUMAN;NP_001019979.1 "K131R,N120T,S173C" "0,0,0" 605 12311 sw5317;dbsnp732 MSS51_HUMAN;NP_001019764.1 "D186N,G321V,G343R,L417P,R297C,R297H,R376C,R6Q,S113N,S118F,S360F,S411A,S444P,T322I,V218A,V386I,V83E,V83L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118490 7402 sw5318;dbsnp20366 AT135_HUMAN;NP_940907.2 "A611T,A677V,A756T,A955D,C306W,C484Y,D748N,E107K,E133Q,F570C,G1190R,G739S,I1053V,I163S,I775M,K1204Q,K344E,M132L,N186K,P296L,P55T,P640L,Q1015H,Q938K,R696C,R696H,R712C,S396N,S96Y,T779A,V1131A,V41M,V440M,W53R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 344905 1365 sw5319;dbsnp20695;hgmd0613_2159 AT134_HUMAN;NP_115655.2 "A10T,C582S,D79N,H61R,I181M,I194T,I707V,L1123F,L482F,M577V,P1166L,P426T,Q164K,R365K,R779S,S514G,T641A,V1001M,V1041I,V353A,V364A,Y954H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84239 1365 sw531;dbsnp27764 ANGP2_HUMAN;NP_001138.1 "A311V,D270H,L386F,T260S,T299M,V333I" "0,0,0,0,0,0" 285 6706 sw5320;dbsnp24447;dbsnp24449 SYTL3_HUMAN;NP_001229313.1;NP_001229323.1 "A435D,D474N,H479R,L587Q,M207T,N236S,P414S,P493S,Q220H,Q593H,R404Q,R429C,R454W,R47W,R565H,R81W,T401M,V540I,V69L,V69M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94120 5021 sw5321;dbsnp16227 PAP1L_HUMAN;NP_001118228.1 "A185V,A263T,E180A,S212A,S492G" "0,0,0,0,0" 80336 4486 sw5322;dbsnp21948 TIGD2_HUMAN;NP_663761.1 "C202Y,G157D,H475R,I366V,K313N,K313R,K354E,Q415R" "0,0,0,0,0,0,0,0" 166815 6209 sw5323;dbsnp22077 TM155_HUMAN;NP_689612.2 "A11V,P76H,R118G,R42S,R62H" "0,0,0,0,0" 132332 14239 sw5324;dbsnp18560 GREB1_HUMAN;NP_055483.2 "A115V,A1172G,A1236T,A268G,A522V,A632T,D1416N,D1687N,F238L,F359L,G1143D,G277S,H130Q,K379E,L1814V,N1464S,N77T,P1179T,P128L,P272L,P347L,P790L,Q1709R,R1164C,R1180Q,R419W,R973Q,S261P,S604I,T246M,T409M,V122A,V346M,Y1463C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9687 452 sw5325;dbsnp24334 FNDC1_HUMAN;NP_115921.2 "A783P,D1090H,D1180E,D793N,D866A,E463Q,G596S,G829E,G999S,L1261P,M454V,P122S,P1246R,P491L,Q1003E,Q1280R,Q314H,R1382Q,R1793Q,R667Q,S1059T,S1820N,S955N,T1504K,T1554M,T1574A,T438A,T732P,V1113L,V1272I,Y1056S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84624 492 sw5326 SL9B1_HUMAN Q33H 0 150159 6030 sw5327;dbsnp18478 VWA3B_HUMAN;NP_659429.4 "D1223E,D365N,I1103M,I513T,L677V,Q1195E,R1245K,R181W,R416C,S382L,T1277I,T212M,V315A,V358G,V885M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200403 1174 sw5328;dbsnp3746 CCD38_HUMAN;NP_872302.2 "A141T,A521S,E499K,F533C,F77L,G313S,I385T,K27N,K59E,L409S,L409V,M142V,M227V,N541K,P537T,R299C,R493Q,R52C,S244P,T381I,V203L,V36F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120935 5633 sw5329;dbsnp18624 MORN2_HUMAN;NP_001138922.1 E48K 0 729967 14829 sw532;dbsnp4183 NPFF_HUMAN;NP_003708.1 "N79S,R109C,S49F,W88R" "0,0,0,0" 8620 14499 sw5330;sws667;spmut1459 PAN2_HUMAN "I179L,S32N" "0,0" 9924 1415 sw5331;sws668;dbsnp406 S39AC_HUMAN;NP_001138667.1 "A416T,D332N,F435L,L460F,N268T,Q286L,Q342R,R243C,R35T,S36G,S370G,T244M,T371M,V111G,V304I,V591M,V623M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221074 4154 sw5332;dbsnp20212 ZCPW2_HUMAN;NP_001035522.1 "A255G,I242V,I331M,K303R,L202Q,N23S" "0,0,0,0,0,0" 152098 9515 sw5333;dbsnp17046 KR132_HUMAN;NP_853652.1 "C157F,C56S,Q47H,R13C,R26C,R82H,S74R,S7C,T45I,Y142C" "0,0,0,0,0,0,0,0,0,0" 337959 13456 sw5334;sws669;dbsnp13515 RHG29_HUMAN;NP_004806.3 "E314Q,G1255D,I1119V,I513T,I986T,L598F,N265K,P1192L,Q893P,R1008K,R531K,R798Q,R955H,S913L,S999Y,V875I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9411 1249 sw5335;dbsnp5788 CN177_HUMAN;NP_872366.2 "E11K,E11Q,M27I,R3W,S100L,V33A" "0,0,0,0,0,0" 283598 14325 sw5336 CE027_HUMAN R85C 0 202299 14712 sw5337;dbsnp11203 Z585B_HUMAN;NP_689492.3 "D743G,G112R,G294R,H681Q,I231L,I259M,I539T,L417Q,L46P,P152H,Q317P,Q80P,Q9R,R389K,S117F,S647A,V467I,Y466F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92285 3452 sw5338;dbsnp4059 CL068_HUMAN;NP_001013657.3 "D179E,E140D,S110G,T24I" "0,0,0,0" 387856 13094 sw5339;sws670;dbsnp8101 SBK1_HUMAN;NP_001019572.1 "A261S,N250T,R12H" "0,0,0" 388228 8059 sw533;dbsnp26040 ARC1B_HUMAN;NP_005711.1 "D149Y,D232N,K37N,M350R,N17K,S364L" "0,0,0,0,0,0" 10095 9156 sw5340;dbsnp14364 CA227_HUMAN;NP_001019772.1 "E36K,I8T" "0,0" 149643 14679 sw5341;sws671;spmut1488;dbsnp578 PDCD4_HUMAN;NP_055271.2 "I36V,P413L,Q322R,Q400E,R189K,S48Y" "0,0,0,0,0,0" 27250 7218 sw5342;dbsnp8878 SEZ6_HUMAN;NP_849191.3 "A330V,C416G,G614S,L756V,M148V,M806T,P48T,Q854R,R523H,T546A,V300M,V55I,V592A,Y736N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124925 2128 sw5343;sws672;dbsnp20767;dbsnp20768 FND3B_HUMAN;NP_073600.3;NP_001128567.1 "A452S,A618V,E1066D,E714K,E989D,G147E,G167A,G224V,M1080V,Q842E,R454Q,R932Q,S308G,T1021M,T1046N,T179S,T633I,V1077I,V864I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64778 1406 sw5344;dbsnp27806 TIGD5_HUMAN;NP_116251.4 "D573N,E548K,E603K,I413N,M568I,S442G,V592M,V642M" "0,0,0,0,0,0,0,0" 84948 4671 sw5345;spmut427;dbsnp14400 CRTC2_HUMAN;NP_859066.1 "G651E,G8E,M147V,R379C,R379H,R659C,T13M" "0,0,0,0,0,0,0" 200186 4135 sw5346;dbsnp3477;dbsnp3478 LRC23_HUMAN;NP_001128689.1;NP_964013.1 "K203R,L266F,N65H,R124L,T113N,V317E" "0,0,0,0,0,0" 10233 9831 sw5347;spmut341 CEP55_HUMAN "C236R,H378L,H57Q,T99A" "0,0,0,0" 55165 7321 sw5348;spmut1270;dbsnp10310 MPPE1_HUMAN;NP_075563.3 "A133V,A268P,D202V,E216D,E83G,G262E,K394N,M336L,R138Q,R173C,R232Q,R284Q,R393C,T304M,V197M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65258 8660 sw5349;sws673;spmut1674;dbsnp19248;dbsnp19249 QORX_HUMAN;NP_671713.1;NP_004872.2 "D84N,E195D,E223K,N271K,T201M" "0,0,0,0,0" 9540 10090 sw5350;dbsnp22295 CD017_HUMAN;NP_115525.2 "A100D,A351T,E72G,E91K,G64E,G66D,R22K,R358W,S154C,S161C,S161N,S195P,S85P,T278I,T327A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84103 9449 sw5351;dbsnp3163 HIKES_HUMAN;NP_057485.2 "I44V,P47A,R104Q" "0,0,0" 51501 13031 sw5352;dbsnp7277 ACSM3_HUMAN;NP_005613.2 "A183T,D270H,E44Q,F233L,G101V,G460E,H302Y,H545P,I21V,K367N,L100P,P242L,P308T,S216R,S351N,V442I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6296 5321 sw5353;dbsnp12967 IF44L_HUMAN;NP_006811.2 "A104T,E74G,G232E,G273R,G273V,H33P,H73R,I235T,M335K,M390I,N59S,R148C,R148H,R148L,R296C,R296H,R46H,V217I,V230I,Y188H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10964 7551 sw5354;dbsnp16007 KLH12_HUMAN;NP_067646.1 "D354V,P72L" "0,0" 59349 5573 sw5355;sws674;dbsnp24392 CTL4_HUMAN;NP_079533.2 "A175T,A391P,D123V,E278Q,G128E,I404V,L313V,M326V,M687V,P256T,P397S,P623L,Q386E,R215G,R493C,R535H,R6L,S300T,V187I,V39I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80736 3970 sw5356;dbsnp22262 PDLI3_HUMAN;NP_055291.2 "D239N,S299N,V127M" "0,0,0" 27295 9318 sw5357;dbsnp26363 ZN394_HUMAN;NP_115540.2 "A135V,A215V,A224V,E305D,G555E,Q8R,R181G,R229H,R556C,R560H,T325M,T62A" "0,0,0,0,0,0,0,0,0,0,0,0" 84124 5665 sw5358;spmut1557;dbsnp13811 PKHO1_HUMAN;NP_057358.2 "L299P,L395F,P21A,P400L,R229C,R279Q,R285C,R285H,R307Q,V144I" "0,0,0,0,0,0,0,0,0,0" 51177 8404 sw5359;dbsnp27814 PAR10_HUMAN;NP_116178.2 "A779V,E565K,E635D,E665Q,E829D,G158S,G281R,G468V,G810E,I249V,L395P,M421I,P328A,P692S,P880L,R197C,R235W,R548H,R615W,R680W,R753C,R753H,R849H,S507G,T333A,V630A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84875 2001 sw535;spmut1209;dbsnp14124 MDM4_HUMAN;NP_002384.2 "A8T,D153G,I175T,K280N,K374Q,P388A,T406I" "0,0,0,0,0,0,0" 4194 6837 sw5360;spmut499;dbsnp2352 DHB12_HUMAN;NP_057226.1 "M295T,P245S,S280L,T200A" "0,0,0,0" 51144 10609 sw5362;dbsnp26529;hgmd0613_1880 AGK_HUMAN;NP_060708.1 "E111Q,H248Y,I335T,K6R,N10S,P376L,P376Q,T139R,T268N,T363M,V3M" "0,0,0,0,0,0,0,0,0,0,0" 55750 8104 sw5363;dbsnp27663 TYW2_HUMAN;NP_060426.2 "A128T,A321S,G15R,G257R,L126M,L126V,R97K,T87M,V18M,W28R" "0,0,0,0,0,0,0,0,0,0" 55039 7626 sw5364;dbsnp20146 PLA1A_HUMAN;NP_056984.1 "F399L,K452E,N395K,P375A,R110H,R379C,S23I,S284N,T103A,T112M,V152E,V445M" "0,0,0,0,0,0,0,0,0,0,0,0" 51365 7465 sw5366;dbsnp4078 CCD92_HUMAN;NP_079416.1 "A253T,H28Q,R281H,S70C,V289I" "0,0,0,0,0" 80212 10109 sw5367;dbsnp12041 KLH26_HUMAN;NP_060786.1 "N286S,R305H,S325L,T345A,V542L,V542M,Y531F" "0,0,0,0,0,0,0" 55295 4969 sw5368;spmut225;dbsnp15039;dbsnp15040 BOREA_HUMAN;NP_060571.1;NP_001243804.1 "I227F,K12N,L177W,Q105H,R114Q" "0,0,0,0,0" 55143 11271 sw5369;spmut1979;dbsnp3714;dbsnp3715;dbsnp3716 SMUG1_HUMAN;NP_055126.1;NP_001230717.1;NP_001230716.1 "C23S,G15V,R105W,R71G,S48L" "0,0,0,0,0" 23583 11481 sw536;dbsnp25593;hgmd0613_2490 RPAC1_HUMAN;NP_976035.1 "A200T,A342V,A39V,A3V,F288S,L184V,M212V,M65V,R141C,R148Q,R22H,R279Q,R279W" "0,0,0,0,0,0,0,0,0,0,0,1,1" 9533 9759 sw5370;dbsnp18930 CB057_HUMAN;NP_689827.2 "E168K,G220E,M376T,P141L,P239T,P385L,P87S,Q79R,R373C,R386C,S261P,S315N,V11L,V122A,V34I,V73A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165100 8681 sw5371;dbsnp18860 T4S20_HUMAN;NP_079071.2 "A27V,I28T,K223T,L89F,N125S,P29T,R75S" "0,0,0,0,0,0,0" 79853 12337 sw5372;dbsnp18476 FAKD1_HUMAN;NP_078898.3 "A750V,C446G,C46Y,D48N,D498H,D530E,E384Q,G54D,H600D,H600L,K45T,M467V,R811H,S35N,S64A,T551A,T827A,V260M,Y122H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79675 2915 sw5373;dbsnp19271 FBLN7_HUMAN;NP_694946.2 "G364S,P87A,T86N,V119M,V99E" "0,0,0,0,0" 129804 7786 sw5374;dbsnp19736 ANR39_HUMAN;NP_057550.3 "A113T,G130S,R46Q,S62L" "0,0,0,0" 51239 13305 sw5375;spmut118;dbsnp18719 APRV1_HUMAN;NP_690005.2 "G176E,G87R,G89R,R338Q,R52Q,R97Q,T49A,V102I" "0,0,0,0,0,0,0,0" 151516 9832 sw5376;dbsnp18366;dbsnp18367;dbsnp18368 TM177_HUMAN;NP_001098668.1;NP_085054.2;NP_001098669.1 "A137T,C79R,D113G,D267E,G29A,G29V,H35Q,I32V,K81R,P31L,P82H,R261C,R261H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 80775 10629 sw5377;dbsnp18409 CB083_HUMAN;NP_064546.3 "E104Q,I10N,S45L,S60R,V83I" "0,0,0,0,0" 56918 13919 sw5378;dbsnp18673 CB053_HUMAN;NP_848648.2 "D207G,P142L,P40S,P50R,P59L,P67L,R194G,R222C,R223H,R257W,R259H,S112C" "0,0,0,0,0,0,0,0,0,0,0,0" 339779 8337 sw5379;dbsnp18567 H1BP3_HUMAN;NP_071905.3 "A388T,G273R,K221N,K69T,P181L,P224L,P224S,P348R,P92L,P92Q,R106W,R12Q,V260M,V39M,V63I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64342 8749 sw5380;spmut2094 TAF1B_HUMAN "A6S,E462D,R292H,T351A,T487M,V282I" "0,0,0,0,0,0" 9014 5298 sw5384;dbsnp9177;hgmd0613_715 WDR81_HUMAN;NP_001157281.1 "A1178T,A1277T,A1744V,A773V,C1409G,C1494Y,E29D,G1278S,G1615R,H153Q,L1275M,L1482P,L1593P,M1535V,P1540H,P1772S,P1861L,P309R,P652L,P652R,P856L,Q1477E,Q1695E,R1230C,R1304H,R1501Q,S1149R,S1320I,S1586L,T1687M,V1193A,V1531M,V1721I,V349L,V928M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124997 458 sw5385;dbsnp18140 SGOL2_HUMAN;NP_689737.4 "A1006V,E1066G,E343A,G756R,G9D,H1143R,I1099T,I496V,I916M,L1056V,N660S,N874K,R97C,S1219P,Y962C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151246 1243 sw5386;sws676;dbsnp19111 CCD93_HUMAN;NP_061917.3 "E266D,K571N,P228L,R179C,R179H,R213C,R428H,R456Q,R476Q,R561H,V124G,Y465H" "0,0,0,0,0,0,0,0,0,0,0,0" 54520 4785 sw5387;dbsnp10994 M17L2_HUMAN;NP_116072.2 M72V 0 84769 12829 sw5389;dbsnp18484 Z385B_HUMAN;NP_689733.3 "A182S,A293G,M409L,S242G,S83I,T260S" "0,0,0,0,0,0" 151126 7179 sw538;sws52;spmut2156;dbsnp26766 TIF1A_HUMAN;NP_056989.2 "D872E,I320T,N796S,Q564K,R1009S,S762N,T657M,V440I" "0,0,0,0,0,0,0,0" 8805 1895 sw5390 CC157_HUMAN "D51N,P191L,S587A" "0,0,0" 550631 3591 sw5392;dbsnp5981 EAPP_HUMAN;NP_060923.2 "A95T,N279S,Q168E,R239Q" "0,0,0,0" 55837 11186 sw5393;dbsnp19954 PYDC2_HUMAN;NP_001076777.1 "Q81R,S4F,S4Y,T60P" "0,0,0,0" 152138 1848 sw5394;sws677;dbsnp18244 YSK4_HUMAN;NP_079328.3 "C351G,C627R,E676Q,E812G,F86L,G52D,H486L,I1199T,I126L,I470V,I956M,K724T,K727N,N950D,N950S,P265L,P785S,Q1309H,Q768R,R1185C,R1185H,R1272G,R139Q,R139W,R675Q,R696C,R885Q,S460G,S690L,S808C,S879R,T128M,T438I,V142D,Y380H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80122 1109 sw5395;dbsnp22161 OCAD2_HUMAN;NP_001014446.1 "G142R,G147R,L89V,R44Q,R7H,V61I,Y102H" "0,0,0,0,0,0,0" 132299 13831 sw5396 CB027_HUMAN P203L 0 408029 12898 sw5397 SFT2C_HUMAN R38G 0 84826 12633 sw5398;hgmd0613_568 ECAT1_HUMAN "A201G,E97Q" "0,0" 154288 12586 sw5399;dbsnp20620 NADL2_HUMAN;NP_996898.2 "G68S,I128M,L677S,M194T,M437T,P385S,P622R,Q203H,Q640R,V125I,V420F,V432L" "0,0,0,0,0,0,0,0,0,0,0,0" 254827 3249 sw53;dbsnp3717 CL069_HUMAN;NP_001013720.2 "C49R,D108V,K75R,V176I" "0,0,0,0" 440087 12434 sw5400;dbsnp7680;dbsnp7682;dbsnp7683;dbsnp7684 PKHG4_HUMAN;NP_056247.1;NP_001123201.1;NP_001123200.1;NP_001123199.1 "A833S,D1102H,D525G,E756G,E876Q,G398D,H853Y,M137I,N989S,P293A,P527A,P829R,Q560H,Q623R,R1064H,R201W,R255P,R334Q,R430Q,R557K,R631W,R749Q,R830H,R939H,R972C,S104T,S1090T,S1159L,T412I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25894 1443 sw5401;sws678 BRDT_HUMAN "K336T,P542A,P696L,R6Q,S2F" "0,0,0,0,0" 676 2338 sw5402 SY14L_HUMAN T97M 0 401135 4931 sw5404;sws679;spmut2179 TNI3K_HUMAN "A785G,D151H,D833Y,F309L,I686T,P263L,T637M,V510L" "0,0,0,0,0,0,0,0" 51086 2407 sw5405 SPRN_HUMAN T7M 0 503542 13900 sw5406;dbsnp10294 CR034_HUMAN;NP_001098998.1 "A184T,A42T,D420N,D601N,H705Q,H712R,K667I,L49I,L600F,L600R,L629I,M295T,R472W,R566Q,R647C,R758H,R758L,R82Q,T862A,V465E,V737L,W405C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374864 2787 sw5407;dbsnp29051;dbsnp29052 ODFP2_HUMAN;NP_001229282.1;NP_702911.1 "A31P,A35T,S22N" "0,0,0" 4957 2651 sw5408;dbsnp11903 YIF1B_HUMAN;NP_001034761.1 "D221H,P20R,P56S,S86R" "0,0,0,0" 90522 10548 sw5410 TTMP_HUMAN G144S 0 79669 11922 sw5411;dbsnp25921 NOM1_HUMAN;NP_612409.1 "A278E,A646S,D257E,D395Y,D623N,E248K,E496Q,F714L,G534R,G586S,H122P,I435M,I622M,I729M,K809N,L593V,M723V,P104L,Q649L,R24G,R608H,R779C,R779H,R82C,S205I,S625G,T327M,T495A,T606M,V468I,V477M,V478A,V635A,V692I,V804L,V812M,Y707C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64434 2830 sw5412;dbsnp11258 ZN805_HUMAN;NP_001018857.2 "E543Q,G68E,G81D,I531V,K322R,N206S,R564G,R74G,V195A,V195I" "0,0,0,0,0,0,0,0,0,0" 390980 4825 sw5414;dbsnp20463 DALD3_HUMAN;NP_001009996.1 "C277F,Q299R,R462Q,R507Q,V364I" "0,0,0,0,0" 55152 5943 sw5415;dbsnp14731 ZC12A_HUMAN;NP_079355.2 "A13G,G492S,G547D,L590F,P100L,P123S,P32L,P346H,R170Q,R33S,R357Q,V240M" "0,0,0,0,0,0,0,0,0,0,0,0" 80149 5147 sw5416;dbsnp13500 FILA2_HUMAN;NP_001014364.1 "A2050T,A2083G,A2279T,C298R,C298S,D3N,E1274K,E1992D,E245K,E723K,G1065R,G1140D,G1165C,G1234E,G137E,G1435R,G1603R,G1814A,G1963V,G1977S,G2008A,G2008V,G2055R,G2077A,G2142R,G2277S,G243E,G422R,G422S,G646R,G669R,G962D,H1249R,H1632Y,H1674P,H1901Q,H1982Q,H2039P,H2087R,I2147T,L168F,L41F,P1964H,Q1368K,Q2239H,Q507H,Q657E,Q906K,Q931H,R104C,R104H,R1072H,R107Q,R276Q,R403H,S1759P,S1761P,S1870P,S1972T,S268A,S319T,S336A,S691F,S801L,S895T,S953L,S953P,S958Y,T1627S,T476I,T902S,V1183L,V11I,V1888A,Y881S,Y907S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388698 270 sw5417 UROL1_HUMAN M559T 0 89766 904 sw5418;dbsnp20455 IGS11_HUMAN;NP_001015887.1 "A264T,E333D,I53V,L164F,P39T,R426W,R87Q,S306L,S388N,V196I,W268R" "0,0,0,0,0,0,0,0,0,0,0" 152404 7923 sw5419;dbsnp18792 CMPK2_HUMAN;NP_997198.2 "C153Y,E448G,G421D,K433R" "0,0,0,0" 129607 7607 sw541;dbsnp22854 CETN3_HUMAN;NP_004356.2 V10L 0 1070 13511 sw5420;dbsnp1435 CAR16_HUMAN;NP_001017534.1 "A56D,D27H,D3N,E39D,E41D,E46K,E8K,F13L,H15R,K11Q,K42I,K4M,L128M,M17L,M40I,M40T,N167I,Q37K,R163Q,R33S,S81R,V5I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114769 8500 sw5421;sws680;dbsnp23810 DJC21_HUMAN;NP_001012339.2 "A219V,D320N,E124Q,E433K,E439K,N516S,Q421E,R339Q,V342M" "0,0,0,0,0,0,0,0,0" 134218 5476 sw5422;spmut1919;dbsnp20708;dbsnp20713 SGOL1_HUMAN;NP_001186181.1;NP_001012410.1 "A31S,D209H,K492Q,P321S,Q322P,R518H,S180F,T556I,V171A,V452A,Y309C" "0,0,0,0,0,0,0,0,0,0,0" 151648 5666 sw5423;spmut35;dbsnp11664 ACBG2_HUMAN;NP_112186.3 "A399V,A589V,D13E,E626Q,F408L,G129R,G568R,G584D,G586D,H392D,I461T,K152R,L127I,L70H,L70P,M645K,M645T,N621D,P601R,R104C,R205K,R583Q,R624K,R650S,R91W,S96Y,T558M,V143A,Y365C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81616 4410 sw5424;dbsnp19951 PRRT3_HUMAN;NP_997234.3 "A331S,G584R,G725V,H145N,L233F,L860I,P144R,Q138E,R334G,S213P" "0,0,0,0,0,0,0,0,0,0" 285368 2177 sw5425;spmut2412;dbsnp18118 ZRAB3_HUMAN;NP_115519.2 "C877Y,E541K,E637V,G899D,I67M,L713F,M304T,R546Q,R601Q,R914H,S123L,T830N,V605M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84083 1783 sw5426;spmut636;dbsnp10549 ESCO1_HUMAN;NP_443143.2 "C216F,E324K,H444Y,H583R,L276P,L276V,N191S,P432S,R137H,S325P,T221M" "0,0,0,0,0,0,0,0,0,0,0" 114799 2958 sw5427;dbsnp26464 ZN789_HUMAN;NP_998768.2 "C87Y,D148N,E120A,G84S,H275R,R174K,R241Q,S308N,S424P,T245M,T77A,V305M,Y150C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 285989 8037 sw5428;dbsnp19037 FBX48_HUMAN;NP_001019851.1 "E117K,T16I" "0,0" 554251 13813 sw5429;dbsnp22324 ARSJ_HUMAN;NP_078866.3 "S325F,S565R" "0,0" 79642 5148 sw542;dbsnp20630 CTDSL_HUMAN;NP_001008393.1 "A92T,D183E,D243N,K106R,N127S,R201C,S121P,S89N,V132G" "0,0,0,0,0,0,0,0,0" 10217 11338 sw5430;dbsnp5672 RNS13_HUMAN;NP_001012264.1 "A150V,C93W,S113F,S139A,T6I,Y124C,Y142C" "0,0,0,0,0,0,0" 440163 13795 sw5431;dbsnp5592 RNS10_HUMAN;NP_001012993.1 "D113E,E36D,S131N,T31A,T64I" "0,0,0,0,0" 338879 12608 sw5432;sws681 VWA2_HUMAN "A9T,E131G" "0,0" 340706 3567 sw5433;dbsnp17569 XKR3_HUMAN;NP_787074.2 "F255L,H442N,L173H,P232L,S152L,T143M" "0,0,0,0,0,0" 150165 7414 sw5434;dbsnp6882 TP8L3_HUMAN;NP_997264.2 "A38T,A58P,H227L,N224H,R197Q,W25C" "0,0,0,0,0,0" 388121 11042 sw5435;dbsnp19085 NMS_HUMAN;NP_001011717.1 "M1T,M1V,P6S" "0,0,0" 129521 13860 sw5436;dbsnp21826 PIGG_HUMAN;NP_001120650.1 "A141V,A36T,A507V,A53D,A567T,A656V,C610R,E644K,E650K,F8L,F932S,G41R,I210V,I881T,L463V,P543R,P744L,R458H,R735Q,R742W,S126R,S484L,S55Y,V242M,V441L,V441M,V521M,V699I,V731I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54872 2169 sw5438;sws682 BCORL_HUMAN "F111L,G209S" "0,0" 63035 628 sw5439 ZMAT1_HUMAN "Q536R,R214K" "0,0" 84460 4716 sw543;dbsnp20256 VILL_HUMAN;NP_056957.3 "A755G,D218E,D808E,E280Q,E836K,F610L,G112R,I699T,K573N,L740F,N453K,R22Q,R410H,R798Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50853 2855 sw5440;dbsnp29958 TAF7L_HUMAN;NP_079161.3 "D52N,E290A,E61K,L34P,R322W,R458H,S308G" "0,0,0,0,0,0,0" 54457 7360 sw5441;dbsnp30119;dbsnp30120 MUML1_HUMAN;NP_689636.3;NP_001164491.1 "A156T,G95D,I382V,S219C" "0,0,0,0" 139221 4106 sw5443;dbsnp1956 PP6R3_HUMAN;NP_001157633.1 "A697S,A842V,E725Q,K146Q,P78S,R582G,R582Q,S852G,S853N,T718M,T858I" "0,0,0,0,0,0,0,0,0,0,0" 55291 2721 sw5444;dbsnp18660 DCA17_HUMAN;NP_079276.2 "H185Q,I305V,W344R" "0,0,0" 80067 6294 sw5445;sws683;dbsnp5590 FSCB_HUMAN;NP_115511.3 "A281V,A348P,A392T,A642T,A668S,D423E,D796N,E824D,H195Q,K251R,L368V,L380P,L685P,N144S,P119S,P227L,P409S,R385Q,R438G,S684P,V714I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84075 3059 sw5446;dbsnp21896 DDX6L_HUMAN;NP_001012985.1 "A583T,A818S,C336Y,C831R,C831Y,D469N,E1222D,I728V,M1646V,N1488D,N355K,P1285S,R1387Q,R641Q,S1080C,S710L,V409L,V754A,Y1181C,Y959C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91351 626 sw5447;dbsnp29721 FA47C_HUMAN;NP_001013758.1 "A162T,A373T,A716P,A925P,C197F,D917V,E174D,E333D,E600K,G61A,K106E,L246F,L474I,N648D,N924T,P1014S,P175H,P389H,P538S,P646L,P647S,P668L,P764L,R296P,R33C,R362H,R415C,R451C,R506P,R631C,R794H,S760C,T265A,T817I,V459M,V543I,Y181H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 442444 1960 sw5448;dbsnp18457 FIGN_HUMAN;NP_060556.2 "A557D,K565R,R448C,S96L" "0,0,0,0" 55137 3526 sw5449;dbsnp11972 ZN766_HUMAN;NP_001010851.1 "C95Y,N134S,Q402E,S141N,V198L" "0,0,0,0,0" 90321 4814 sw544;sws53;dbsnp26496 EPHB6_HUMAN;NP_004436.2 "A178V,A221V,A662V,G122S,G260A,H184Q,I993V,K971N,P282H,P282R,R151H,R309Q,R413C,R499Q,R763Q,R813H,S170T,S324A,S332L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2051 2021 sw5452;dbsnp3868;hgmd0613_2160 COQ5_HUMAN;NP_115690.3 "A152T,D160G,H132R,S6G,V309A" "0,0,0,0,0" 84274 10218 sw5453;dbsnp11605 ZN667_HUMAN;NP_071386.3 "A312V,A610V,C100G,G168E,G561R,G87R,I14M,I402T,K260R,K285E,N176T,N241S,N263D,P134L,R81C,T540A,W30R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63934 5022 sw5455;dbsnp30024 RGAG4_HUMAN;NP_001019626.1 "G418V,S420R" "0,0" 340526 5560 sw5456;sws684;dbsnp18514 MDH1B_HUMAN;NP_001034934.1 "A173V,E489D,E510D,I6L,L86P,R206C,R329K,R33Q,T515A,V320F,V51M" "0,0,0,0,0,0,0,0,0,0,0" 130752 6341 sw5457 AG10B_HUMAN "A84G,I446V,S383N" "0,0,0" 144245 7145 sw5458;dbsnp28519 CRUM2_HUMAN;NP_775960.4 "A1156T,A295S,A351T,A554V,A912T,D755N,E187D,E485Q,E792D,G159A,H157Q,H746Q,L1222P,M145T,P1023A,P116L,P1217L,P406L,P433L,P46L,P840R,R1249Q,R246H,R477C,R534Q,R606Q,R610L,R610W,R69W,R93H,T1110M,T122P,T90N,V709A,V97L,W498C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286204 1194 sw5459;dbsnp7136 EMC4_HUMAN;NP_057538.1 "A9G,I138T,P98T,S36G" "0,0,0,0" 51234 13306 sw545;dbsnp5257;hgmd0613_679 SMAD9_HUMAN;NP_001120689.1 "A163T,G342R,H337Q,K43E,L22P,N307S,R263Q" "0,0,0,1,0,0,0" 4093 7251 sw5460;dbsnp2186 M4A13_HUMAN;NP_001012417.2 "G3D,H126Q,I7V,P58L,V108I" "0,0,0,0,0" 503497 13879 sw5461;dbsnp25002 ZN311_HUMAN;NP_001010877.2 "C363Y,C513W,E524K,E524Q,E77K,K190R,K219E,K511Q,M562I,N220K,P50L,P651L,Q244H,Q350R,R177Q,R345H,R435Q,R486C,R486P,T590K,T664I,V64M,Y443H,Y499C,Y499S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 282890 4411 sw5462;dbsnp16054 ZN831_HUMAN;NP_848552.1 "A890V,A912V,G600D,G845R,K629R,L1022F,R1310H,S1513P,S200F,T1234S,T1377A,V496G,V622G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 128611 664 sw5463;dbsnp8277 NOMO2_HUMAN;NP_001004060.1 "D490N,K428E,K458N,K480E,M494T,N726K,P420L,R418H,S225N,T243A,V493M,V580M" "0,0,0,0,0,0,0,0,0,0,0,0" 283820 1238 sw5464;dbsnp7723;hgmd0613_645 SYEM_HUMAN;NP_001077083.1 "E349K,E349V,S457G" "0,0,0" 124454 6235 sw5465;dbsnp534 MET10_HUMAN;NP_997719.2 "A40V,A98T,R50Q,R67Q,Y283S" "0,0,0,0,0" 399818 11067 sw5466;dbsnp30117 AKAP4_HUMAN;NP_003877.2 "A673G,A673V,A719E,A852T,C516Y,D161N,D684N,D848N,E503D,E94Q,G296D,H233R,H680R,I270T,K550T,K614R,M423T,P107S,Q553R,Q764H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8852 2873 sw5467 PYY3_HUMAN T28I 0 - 14691 sw5468 CF100_HUMAN G41E 0 729583 14907 sw5469;dbsnp14180 OR2BB_HUMAN;NP_001004492.1 "D200E,D300G,F210L,G223D,I130S,L289F,M89I,N179D,N290H,N46S,P214S,R227W,S12P,S12Y,S53F,T167M,T293I,V162M,V165I,V188M,V198M,Y98C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127623 9497 sw546;dbsnp27648 ADEC1_HUMAN;NP_055294.1 "G461R,I44R,I81T,K95R,L89V,M121T,N235K,N366I,N444S,P421S,P439S,T40M,T451M,V280A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27299 7199 sw5470;dbsnp14202 PPM1J_HUMAN;NP_005158.5 "A50V,G368S,G488R,I291T,L213F,L498V,L75M,R329T,R372Q,R408Q,R474Q,R479H,T459R,V236I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 333926 6413 sw5471 MTUS2_HUMAN L1071Q 0 23281 1018 sw5472;dbsnp13258 MIA3_HUMAN;NP_940953.2 "A736T,A896V,E488K,E881G,G1659C,H462Y,I834V,K1723E,K482E,K482Q,K605R,M1320V,P1862S,T120M,T367S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375056 479 sw5473;dbsnp29715 FA47A_HUMAN;NP_981953.2 "A377S,F50L,F569L,G531R,Q169H,R505H,V232E" "0,0,0,0,0,0,0" 158724 1960 sw5474;dbsnp29963 CX066_HUMAN;NP_001013421.1 "A99T,P233L,P281S,S202N,S327R,T345M" "0,0,0,0,0,0" 347487 9384 sw5475;dbsnp14408 O10J3_HUMAN;NP_001004467.1 "E319G,G270R,H24R,I175M,I69V,L52P,Q235R,R123C,R183T,R305C" "0,0,0,0,0,0,0,0,0,0" 441911 10162 sw5476;dbsnp30579 FA70A_HUMAN;NP_060408.3 "G65R,P151S,P345Q" "0,0,0" 55026 9682 sw5478;spmut1752;dbsnp29233 RGPS1_HUMAN;NP_055451.1 "G383C,S290N,T331I" "0,0,0" 9649 5365 sw5479;dbsnp5140 NHLC3_HUMAN;NP_001012772.1 "A305V,D316Y,D49E,E295Q,I77T,L15F,L221R,L45R,T256A" "0,0,0,0,0,0,0,0,0" 387921 9735 sw547;dbsnp24272 UBD_HUMAN;NP_006389.2 "A99G,C160S,C162F,E120K,I68T,L51S,S95P,T123M,V12I" "0,0,0,0,0,0,0,0,0" 10537 13617 sw5480;dbsnp30172 WDR44_HUMAN;NP_061918.3 "A289T,I113M,K501R,T296A" "0,0,0,0" 54521 2539 sw5481;dbsnp30157 DOC11_HUMAN;NP_653259.3 "A1191S,A225V,G1662R,H113D,I1332T,I813F,K1756R,K812N,L957M,M1986I,N370D,P783S,Q258R,Q866R,R1366W,R1729C,R237C,S842L,T1670I,T1809M,T285A,V114M,V1645I,W529L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139818 387 sw5482;dbsnp28802;dbsnp28803 FGD3_HUMAN;NP_149077.2;NP_001077005.1 "A466G,P140L,P91R,R321W,V275I" "0,0,0,0,0" 89846 3828 sw5483;dbsnp549 MEIG1_HUMAN;NP_001074305.1 "A14G,K9T,P51L,P51R,S12N" "0,0,0,0,0" 644890 14773 sw5485;dbsnp28876 PRC2B_HUMAN;NP_037450.2 "A1276V,G400S,I129M,K1418N,L1112P,L1675P,M1044T,M417V,N567D,P465L,P981L,P981R,Q2188R,Q631H,R256H,S1630T,S166P,S980R,T936S,V2106I,V261I,V80I,W1236L,W1236S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84726 324 sw5486;dbsnp13836 KLF17_HUMAN;NP_775755.3 "F352L,I35N,N156S,P194R,P224A,P255L,Q80H,R152S,S57T" "0,0,0,0,0,0,0,0,0" 128209 8814 sw5487;dbsnp30271;hgmd0613_2339 AMER1_HUMAN;NP_689637.3 "A264T,A278S,A29T,D233Y,F159L,G62V,H104R,H134P,K292N,M719I,Q414H,R646P,R646Q,R679W,T625A,Y599C" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0" 139285 1600 sw5488;dbsnp112 RRP12_HUMAN;NP_055994.2 "A1066T,A1231V,A505T,A784T,C517Y,D189N,G1113S,G1145S,H981R,I454V,K1124R,L519Q,R1153Q,R1281Q,R581Q,S745G,T219I,T595N,V457L,V457M,V701M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23223 1172 sw5489;dbsnp28667 WDR38_HUMAN;NP_001038941.1 "A193G,C199G,F16L,H172R,R177Q,R70H,S156L,S52N,T164I" "0,0,0,0,0,0,0,0,0" 401551 10549 sw548;dbsnp24899;dbsnp24900 ZBT22_HUMAN;NP_001138810.1;NP_005444.4 "A171T,E591G,G250A,P415S,P444Q,R196Q,T310A,T403A,V247I" "0,0,0,0,0,0,0,0,0" 9278 4747 sw5490;sws685;dbsnp13057 TOIP1_HUMAN;NP_056417.2 "D383N,M146T,P24A,P276R,Q293H,Q52L,R192W,S143F,T119I" "0,0,0,0,0,0,0,0,0" 26092 5364 sw5491 SYAM_HUMAN "A484D,I339V,L155R,M850V,R592W" "0,0,1,0,1" 57505 2159 sw5492;dbsnp24330 TCTE1_HUMAN;NP_872345.2 "A145T,E157A,E310K,E463K,F261S,G149C,G434S,H384L,H53R,I283L,I374L,I430T,N23S,P35L,R133C,R133P,R185Q,R347C,R474Q,R59C,R59H,V76M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 202500 6637 sw5493;dbsnp28404 CI117_HUMAN;NP_001012520.2 "D383N,D96H,P496S,Q75H,V84A,Y483S" "0,0,0,0,0,0" 286207 6295 sw5494 TOR2A_HUMAN K203E 0 27433 10365 sw5496 SOLH1_HUMAN "C31R,P177T,R37Q" "0,0,0" 402381 8869 sw5497 GGED1_HUMAN "G53S,N35D" "0,0" 139793 14503 sw5498;dbsnp28778 ZN484_HUMAN;NP_113674.1 "E64D,F106V,F253L,G502D,H269P,H680R,H764R,K643N,K699T,S76T,V830L,Y804C" "0,0,0,0,0,0,0,0,0,0,0,0" 83744 2882 sw5499;dbsnp12022 ZN506_HUMAN;NP_001092739.1 "H126Y,T189P" "0,0" 440515 1203 sw549;dbsnp25332 RGL2_HUMAN;NP_004752.1 "G201A,G201E,G627V,G705E,H726Q,H726R,L80W,M117T,N210S,P326R,P598L,P763A,R214W,S589T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5863 3387 sw54;dbsnp9315 CQ104_HUMAN;NP_001138552.2 "A610V,C679G,E935K,G229R,K596Q,L223F,M311L,N320T,N472S,N474S,P29L,R659S,R757H,T649M,V481I,V872I,Y634C,Y712H,Y726H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284071 2327 sw5501;dbsnp13705 CA141_HUMAN;NP_001013696.1 "A58T,E379K,E85G,G345R,M145R,M284V,Q144R,V189I" "0,0,0,0,0,0,0,0" 400757 8580 sw5502;dbsnp16585 GNAS1_HUMAN;NP_536350.2 "A210P,A210S,A436D,A550T,M162V,P186A,P376L,P459R,R16L" "0,0,1,0,0,0,0,1,0" 2778 1952 sw5503;sws686;dbsnp24982 DOP1_HUMAN;NP_055833.2 "A1794T,A2026T,D884Y,E2368Q,I1565V,I1664V,I1714V,K1673R,L1801F,L1858S,M1485T,M1487I,N1840S,N696S,P1182T,P1189A,Q1781L,R263Q,R596Q,S1085G,S1251T,S1277P,S1313C,S1322N,S527T,S600C,T1245I,T1843N,T2025N,T394I,V656I,Y162C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23033 252 sw5504;dbsnp16290 F209B_HUMAN;NP_001013668.2 "E129A,E84K,G135S,N47S,Q74K,R149K,Y18C" "0,0,0,0,0,0,0" 388799 13526 sw5505;dbsnp16146 F209A_HUMAN;NP_001012989.2 "L95F,M117K,M137V,M152R,Q74K,R135G,R146K,S169I,V159I,V159L,V66A,W165R" "0,0,0,0,0,0,0,0,0,0,0,0" 200232 13526 sw5506;dbsnp16391 SIRB2_HUMAN;NP_001116434.1 "A217V,E215A,G153E,L304F,S260I,T102I,T172I,V291M,V41G" "0,0,0,0,0,0,0,0,0" 284759 9852 sw5507;dbsnp13767 MIIP_HUMAN;NP_068752.2 "A344T,E38K,F199L,H280Q,K167E,K99N,M364V,N14I,P142S,P251L,P266L,P381S,R171C,R244C,R247W,R314W,R385W,R70Q,S288L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60672 8831 sw5508;dbsnp24834 MET24_HUMAN;NP_001116836.1 "D167N,H245R,L281F,W301C" "0,0,0,0" 728464 9277 sw5509;dbsnp29783;dbsnp29784;dbsnp29785;dbsnp29786 GASP1_HUMAN;NP_055525.3;NP_001092880.1;NP_001092881.1;NP_001171656.1 "A315G,A403S,A44P,C594Y,D1359Y,D980G,E916A,G659D,G721E,G827R,I1177L,I562M,I779V,L791P,M1299T,M370L,P1093S,R595G,W272C,Y246C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9737 985 sw550;dbsnp24290 WDR46_HUMAN;NP_005443.3 "E576D,K117R,P457S,R273C,S124Y,T94A,V341A" "0,0,0,0,0,0,0" 9277 5020 sw5510;dbsnp16100 K1755_HUMAN;NP_001025035.1 "A15E,A633V,C383S,C73Y,D156N,E1043K,E744K,E757K,E940K,G646S,I566T,K339N,L1005P,M454V,P415L,P553S,Q61K,R1045W,R1150C,R1171C,R255Q,R575H,R663W,R760S,R842C,R845C,R898L,T524I,T953M,V376A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85449 1420 sw5511;sws687 EPHAA_HUMAN "A956T,L630P" "0,0" 284656 2077 sw5512;dbsnp4250 CLLU1_HUMAN;NP_001020404.1 "A16T,I73V,S9F,T106M" "0,0,0,0" 574028 14391 sw5513;dbsnp14715 S27A3_HUMAN;NP_077306.1 "A310T,A50V,A646S,A722T,C579W,D615G,G110A,G293R,G450R,H630Q,I422T,L641M,P662S,R439H,R444W,R452H,R518Q,R586H,R665W,R719Q,T680S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11000 3778 sw5515;spmut496;dbsnp29899 DGKK_HUMAN;NP_001013764.1 "D1118N,D470N,H249Y,I1137T,I259V,I669F,K663T,P1203S,R640Q,R906C,T954M,Y246C" "0,0,0,0,0,0,0,0,0,0,0,0" 139189 1227 sw5516 COL12_HUMAN "G606S,I487V,K91E,S522P" "0,0,0,0" 81035 3681 sw5517;dbsnp9091;dbsnp9093 CYTSB_HUMAN;NP_001230368.1;NP_001028725.1 "A266T,A955G,D592A,D769N,E719K,I12S,K234E,M293L,M508T,R46Q,R511C,S274R,S692R,T222M,T99S,V776M,V881M,Y1004C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92521 1827 sw5518;dbsnp22255 CD158_HUMAN;NP_001036249.1 "A468D,A725S,E232D,E458A,E482K,I297V,K805N,Q751E,R134Q,R389K,R829C,R829H,S97N,V326I,V481I,W6C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339965 1684 sw5519;dbsnp24238 NKAPL_HUMAN;NP_001007532.1 "A282T,A84V,E365A,E398G,H162Y,K178N,K224E,N80I,P3S,R42C,S23F,T152N,Y96C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 222698 8277 sw5520;dbsnp18800 CDKL4_HUMAN;NP_001009565.1 "E39K,F228C,H118Y,R307C,R53H,S14F,S288Y,S38P" "0,0,0,0,0,0,0,0" 344387 6789 sw5521;dbsnp18615 P4R3B_HUMAN;NP_001116436.1 "E138D,F210S,I503V,N184H,Q407E,R442H,R703C,S293T,S29F,T652I,T808A,V371L" "0,0,0,0,0,0,0,0,0,0,0,0" 57223 2901 sw5522;dbsnp30066 SPXN4_HUMAN;NP_001009613.1 K48N 0 441525 13356 sw5523;dbsnp29962 SPXN3_HUMAN;NP_001009609.1 "K23T,K43N,V89I" "0,0,0" 139067 13356 sw5524;dbsnp30471 SPXN2_HUMAN;NP_001009615.1 "T61M,T8I" "0,0" 494119 13356 sw5525;dbsnp9378 FBX47_HUMAN;NP_001008777.2 "A433T,I260V,K29E,N426S,Q106K,Q209R,Q23H,Q263L,R195C,V268F" "0,0,0,0,0,0,0,0,0,0" 494188 7552 sw5526;dbsnp8706 WIPI1_HUMAN;NP_060453.3 "A191V,K79N,L406P,M229I,Q379P,R308H,T31I,Y223C" "0,0,0,0,0,0,0,0" 55062 7515 sw5527;dbsnp28857 ENTP8_HUMAN;NP_001028285.1 "A458S,E422D,E428K,G84A,L62P,Q494R,R5Q,T54M,V317I,V340I" "0,0,0,0,0,0,0,0,0,0" 377841 6743 sw5528 CATL3_HUMAN S123G 0 - 12569 sw5529;dbsnp739 O3FA1_HUMAN;NP_859529.2 "L120M,Q273R,R270H,R67C,V48M" "0,0,0,0,0" 338557 9038 sw552;dbsnp4411 GP182_HUMAN;NP_009195.1 "A371G,A85V,C349R,L33P,R164H,R328Q,V54M" "0,0,0,0,0,0,0" 11318 8502 sw5530;dbsnp27749 NTCP5_HUMAN;NP_001010893.1 "A404S,F301L,F322L,F61L,I143N,I287T,I88V,K292R,L247P,P296A,S300N,S47T" "0,0,0,0,0,0,0,0,0,0,0,0" 347051 7801 sw5531;dbsnp30056 K2022_HUMAN;NP_001008537.1 "E288G,H1134Q,I105L,I1112T,I1251M,M1237L,M1271T,N116S,N934S,P1416S,P159S,P51T,R1412C,R772H,R989Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340533 803 sw5532;dbsnp20869 RTP2_HUMAN;NP_001004312.2 "A68P,A84E,E9D,G100S,H69Y,L197F,N34S,Q82R,R151H,S4C" "0,0,0,0,0,0,0,0,0,0" 344892 11622 sw5533;dbsnp3317 CL12A_HUMAN;NP_612210.4 "A61V,C133R,D9E,G25S,I21V,K244Q,M1T,N101S,R40C" "0,0,0,0,0,0,0,0,0" 160364 11376 sw5534;dbsnp14739 TCHL1_HUMAN;NP_001008536.1 "A193G,A19G,C789R,D108G,E277K,G42E,G532E,I672V,N167Y,P649A,Q233K,T280I,T673I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 126637 2590 sw5535;dbsnp14007 TDIF2_HUMAN;NP_055412.2 "A430V,E309D,G477E,P233S,R749Q,T341A,Y676F" "0,0,0,0,0,0,0" 30836 3556 sw5536;dbsnp28915 ACER2_HUMAN;NP_001010887.2 "A134V,N267T,Q9K" "0,0,0" 340485 11365 sw5537;dbsnp14277 RBG1L_HUMAN;NP_055672.3 "D15H,E67K,K252R,S277G" "0,0,0,0" 9910 1823 sw5538 PA2GC_HUMAN Q139R 0 391013 13928 sw5539 TTC38_HUMAN F243L 0 55020 7219 sw5540;dbsnp24280 FA26F_HUMAN;NP_001010919.1 "D165H,D169G,E293K,G80R,H277P,M254I,N156K,N310K,T100A,V12F,V280A" "0,0,0,0,0,0,0,0,0,0,0" 441168 10524 sw5541;dbsnp13089 CA173_HUMAN;NP_001002912.4 "A1022G,A1229V,A1354P,A1429V,A811S,D1463H,D303G,E1213G,E1276D,E1485Q,E561D,E823K,E853V,E929G,F352L,G1177E,G1477R,G319R,G421R,G854A,G931R,H691R,I278V,I636V,K757E,L1056V,L730M,L883F,L916F,M357I,N1120S,P264A,P407L,P527L,Q337R,Q647E,R100Q,R1082S,R1465K,R308W,R555H,R59W,R82H,S581L,T1115I,T1115K,T245P,T450N,T768I,V1528M,V804I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127254 792 sw5542 CBWD5_HUMAN "E288D,H387R,I360L,K389Q,T147A,V303M,Y338C" "0,0,0,0,0,0,0" 445571 8682 sw5543;sws689 LRRK2_HUMAN "A716V,C228S,E2395K,G2385R,K871E,L1870F,R1067Q,R1723P,R50H,V1598E" "0,0,0,0,0,0,1,0,0,1" 120892 235 sw5544;dbsnp20982 PPM1L_HUMAN;NP_640338.2 "A262S,L26V,R178Q,T167I" "0,0,0,0" 151742 9415 sw5545 CA167_HUMAN "C1295S,P453S,R1215H,R1451G,R544Q,R602W,R800C,R944H,S848I,W782R,W955R" "0,0,0,0,0,0,0,0,0,0,0" 284498 870 sw5546 CI141_HUMAN "L8F,Q37R,W220G" "0,0,0" 101928638 12320 sw5547;spmut1145;dbsnp24430 LY66F_HUMAN;NP_001003693.1 "A107T,E94Q,E98Q,G266D,L286F,M233V,P34Q,P39S,R103Q,R153H,R167K,R201L,V123I,V148L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259215 10931 sw5548;dbsnp13657 SNP47_HUMAN;NP_444280.2 "G119R,G394S,I113V,L178Q,P248S,P29S,R163P,R163Q,R360G,R381C,R385C,R39C,R48G,S76L,T40I,V154M,V442I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116841 7322 sw5549;dbsnp1170 VAX1_HUMAN;NP_001106175.1 "D72N,P40R,R152S" "0,0,0" 11023 10036 sw554;dbsnp13257 KMO_HUMAN;NP_003670.2 "A388V,I14V,I442M,N251S,N482S,R414H,R452C,T47N,V474M,V5A" "0,0,0,0,0,0,0,0,0,0" 8564 6897 sw5551;dbsnp428 CJ120_HUMAN;NP_001010912.1 "A269T,A99T,D306V,G88R,L279I,L279Q,M203V,R175Q,R96S,S38Y,T20K,V164I" "0,0,0,0,0,0,0,0,0,0,0,0" 399814 10015 sw5552;dbsnp29370 HIAL1_HUMAN;NP_115947.2 "I124V,L207F,N390S,V406L,V426A,W230S" "0,0,0,0,0,0" 84641 6545 sw5553;dbsnp1020 AGAP8_HUMAN;NP_001071154.1 "E440K,G601S,L420V,P369S,Q567H,R492H,R494Q,S532T,T536M,W570R" "0,0,0,0,0,0,0,0,0,0" 728404 4207 sw5554;dbsnp29006 NU188_HUMAN;NP_056169.1 "A1419V,A1525V,A895T,D1280G,D1578E,E1260D,G1256D,I1358V,L1232P,L1304V,L1367V,L47H,L666F,M1747L,N1587K,N1619S,P645L,R1274Q,R1325H,R1745Q,R198S,R202H,R264W,R624C,S581P,T1346A,V205A,V262I,Y478H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23511 586 sw5555;dbsnp28950 PHYD1_HUMAN;NP_001094346.1 "D223Y,G172S,R222W" "0,0,0" 254295 10948 sw5556;dbsnp24373 CF010_HUMAN;NP_006772.3 "A433T,C30R,E462D,G117R,G145R,G169R,G479V,I150F,I186V,I315V,K400Q,L100F,L266W,L481P,M313I,P128L,P161L,P181L,P211R,P274S,Q232R,Q387E,R241T,S170P,S227P,S229F,T431S,Y36H,Y69C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10665 5634 sw5557;dbsnp24592 MUC21_HUMAN;NP_001010909.2 "A120V,A135V,A180V,A207V,A21S,A315V,A342V,A357V,A360V,A387T,A387V,A390V,A420V,A432V,D139E,D154E,D319E,E161G,E169G,E229D,E244D,E259D,E274D,E289D,E349D,E349G,E379D,E409D,G253S,G266E,G268S,G326E,G364E,G371E,G401E,I282T,I282V,K2E,N220Y,N298S,N313S,N433S,P128L,P128T,P248L,P248T,P293A,P293T,R191G,S129F,S163G,S200F,S250R,S265I,S295R,S328G,S328N,S336I,S355N,S373N,S403N,S85R,T113P,T203P,T323A,T323I,T323P,T338A,T352I,T353A,T353I,T353P,T367A,T367M,T372A,T392N,T97I,V285A,V57F,V57I,V98A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 394263 5598 sw5559;dbsnp24242 SYVM_HUMAN;NP_065175.4 "A557D,A564V,A965T,E863D,G203R,G64R,H26Y,H893Y,I697T,M141I,P777L,R1049Q,R205T,R834C,R851C,R902L,R917Q,S151P,S466G,S505F,S8Y,T637A,V680L,V765L,V765M,W449R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57176 1743 sw555;dbsnp16109 LAMA5_HUMAN;NP_005551.3 "A1021V,A1180S,A1585V,A1908T,A213V,A2183T,A2213T,A2488T,A2630T,A3160T,A3205T,A3293V,A3623V,A530V,A575V,A592S,A863V,D1042Y,D1904E,D1905N,D2062N,D2372H,D2372N,D3071N,D3585Y,E1178D,E2269K,E2378D,E2967Q,E3576K,E567K,E597K,F152L,F1807S,F2061L,F762C,G1322S,G1434A,G1439D,G1876V,G2156E,G2159A,G2380S,G2741R,G2865R,G3345V,G3614R,G411S,G795S,H1717Y,H2036R,H2431L,H2841Y,K1367E,K812T,L1099F,L2867F,L3535F,M1258T,M2472I,N140H,N3626S,N479S,P1566L,P1586L,P1749L,P2889S,P3075L,P317L,P3536S,P3597L,P975L,Q1536R,Q2827K,R1121C,R1156Q,R1390Q,R1436H,R1627C,R1667W,R1679W,R1770G,R1770W,R1838Q,R1894C,R1894H,R1903K,R2053H,R2180Q,R2193C,R2193H,R2226H,R2351Q,R2371C,R2371H,R2373Q,R2404C,R2404H,R2456H,R2527H,R2659Q,R279Q,R2800H,R2953C,R299C,R3079W,R3165Q,R3180C,R3317H,R3454W,R3565W,R3582Q,S1469A,S1611N,S2138I,S3365G,T1671M,T1753M,T2296M,T2689M,T2836I,T3126I,T315M,T3566M,T401A,T474M,T709I,T774I,T956A,V1324M,V1345M,V1705M,V1735M,V1757I,V1900M,V232M,V2440I,V2657M,V889M,Y3002H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3911 90 sw5560 CA170_HUMAN W20R 0 84808 4107 sw5561;dbsnp14358 ZBT41_HUMAN;NP_919290.2 "D286G,D327Y,D847N,E876V,R826H" "0,0,0,0,0" 360023 2567 sw5562;dbsnp13895 ZMYM1_HUMAN;NP_079048.3 "E493G,G236S,I967L,K220E,K992R,R1092H,R454Q,S398G,T293M,V373L,V73M" "0,0,0,0,0,0,0,0,0,0,0" 79830 1577 sw5563;dbsnp25030 DACT2_HUMAN;NP_999627.2 "A73S,C713S,D388N,E351G,G243R,G268D,G723R,L517P,P198S,Q731E,R697H,R84W,T192N,T541P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 168002 3413 sw5564;dbsnp14027 CE170_HUMAN;NP_055627.2 "G1109A,G213S,G432A,G638E,K742E,M1275V,P1051L,Q599K,R876Q,T738I" "0,0,0,0,0,0,0,0,0,0" 9859 748 sw5566;dbsnp13549 PR15B_HUMAN;NP_116222.3 "A173V,E144K,E363G,E469D,E544K,G46R,I415V,K589E,N308S,P26S,Q55H,R261K,S152L,S165G,S629C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84919 3937 sw5567;dbsnp14608 ODR4_HUMAN;NP_060317.3 "A270T,D364G,E55Q,G446A,I389M,K167R,K306Q,R109H,S251C" "0,0,0,0,0,0,0,0,0" 54953 7503 sw5569 ZN678_HUMAN K144E 0 339500 1203 sw5570;spmut1984;dbsnp28806 SNPC4_HUMAN;NP_003077.2 "A1371V,A1412S,A309V,A619V,A734V,D40G,D44N,E177K,E239K,E66K,E997K,F449L,F794L,G1342R,G500R,H514Q,H799Q,K962T,M379V,P1045L,P1144T,P1155L,P1200S,P1207L,P1448S,P850L,P850R,P932A,P941S,Q1179P,R1352Q,R1387H,R1467W,R665C,R729Q,R729W,R737Q,R980S,S1400R,T1421M,T1424A,T579A,V711M,V748M,V768I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6621 868 sw5571;dbsnp28805 DNLZ_HUMAN;NP_001074318.1 "A154T,A163V,E142K,G102S,I97V,N120D,P101S,P169H,S178T" "0,0,0,0,0,0,0,0,0" 728489 13396 sw5572;spmut1374 NOL9_HUMAN "I420V,R10W,S58A,W50R" "0,0,0,0" 79707 4059 sw5573;sws691;dbsnp14512 CA101_HUMAN;NP_001124429.1 "F654L,I442V,I630T,K334R,N818H,R197K,R70H,R948H,S738W,T350N,T446I,T56S,T66K,Y23F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 257044 2332 sw5574;sws692;dbsnp28546 FRPD1_HUMAN;NP_055722.2 "A1025T,A225V,A44T,A686S,A797D,A961V,D1238Y,D1548N,E1053Q,E1519A,F762L,G1092E,G827E,G88V,H1274R,M1426T,N46I,P1137L,P1178L,P715L,P734L,R133H,R1345C,R1345S,R257H,R383H,R55Q,S32L,S690N,S805N,S823R,T1005A,T1147I,T1562M,T50N,T64S,T6P,V1124I,V1217I,V466I,V468A,Y846D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22844 754 sw5575;dbsnp24917 NHSL1_HUMAN;NP_065197.1 "A1577P,A480T,A826T,C1554R,C524G,F394L,G1585S,G549R,I222V,I399V,M305V,P1285S,P1289A,P758R,Q1601R,R1492Q,R21H,R255Q,R260H,R848T,S1148T,S1265L,S424F,V1085M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57224 720 sw5576;dbsnp28471 CI050_HUMAN;NP_955382.3 "D51G,E278K,G186R,G201S,G243S,K415R,K430E,N192S,P223S,Q406H,R248K,R292C,R292G,R312Q,R381Q,R403Q,S316T,S340P,W372R,W52S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375759 7925 sw5577 CF141_HUMAN "P235L,Q137E" "0,0" 135398 12033 sw5578;dbsnp14377 LRAD2_HUMAN;NP_001013715.2 "D201N,N134T,P157T,S188N" "0,0,0,0" 401944 11435 sw557;dbsnp12068;dbsnp12069;dbsnp12070 RT12_HUMAN;NP_203526.1;NP_203527.1;NP_066930.1 "G5S,H8R,R23W,V125I" "0,0,0,0" 6183 14115 sw5580;sws693;dbsnp24921 CE85L_HUMAN;NP_001035940.1 "A7V,D166V,D253N,K220T,M640V,M655L,P104L,P251T,Q532H,R398W,S137G,T119I,T127A,V436I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 387119 3159 sw5581;dbsnp14253 HYI_HUMAN;NP_001177809.1 "A99S,C248S,D239N,D268E,G101D,M185I,R202W,R253Q,S18P,Y96C" "0,0,0,0,0,0,0,0,0,0" 81888 11326 sw5582;dbsnp28831 CI129_HUMAN;NP_001092278.1 "A120V,G118R,G92S,L84S,R130H,R191H" "0,0,0,0,0,0" 445577 1664 sw5583;dbsnp28504 F120S_HUMAN;NP_942138.2 "K241E,L22F,N236S,R198L,S211N,T244I" "0,0,0,0,0,0" 158293 11784 sw5584;dbsnp14923 MORN1_HUMAN;NP_079124.1 "A173T,A422T,G252S,G449E,H330Y,I206V,L124V,N139S,P222Q,R161Q,R171H,R253W,Y201S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79906 6712 sw5585;dbsnp14449 C2D1B_HUMAN;NP_115825.1 "A103G,A187G,A226T,A346S,A346T,A398V,A461T,A738P,E397K,F445L,F730L,G199S,G768S,H491D,H680Y,L588M,M35T,M455I,P223L,P279L,P512R,Q287E,Q493E,R403W,R652Q,T107M,T351I,V112I,V18M,V272I,V502L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200014 2845 sw5586 CA220_HUMAN P3L 0 400798 14182 sw5588;dbsnp12942 CA111_HUMAN;NP_872387.2 "A69V,D78E,G255S,R217H,R29H,S140L,S46C" "0,0,0,0,0,0,0" 284680 11674 sw5589 TTC18_HUMAN "N944D,W849L" "0,0" 118491 1651 sw5590;dbsnp498;dbsnp499;dbsnp500 MARH8_HUMAN;NP_659458.2;NP_001002265.1;NP_001002266.1 "F67S,P56L,P92S,V21L,Y266H" "0,0,0,0,0" 220972 11068 sw5591;dbsnp5131 CC122_HUMAN;NP_659411.2 "A38T,E273K,I269T" "0,0,0" 160857 11409 sw5592;dbsnp24321 FA83B_HUMAN;NP_001010872.1 "A449V,A966V,E607G,E718Q,E722K,H356Q,H504Y,K295T,K640T,K708E,N410S,Q288R,Q647H,R208Q,S435R,S729T,T3S,T733A,T907N,V294M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222584 2064 sw5593;dbsnp25103 CF132_HUMAN;NP_001157918.1 "A414V,F981L,K4N,L194S,L515P,L631F,R599I,R76Q,S260A,T68M,V765M,Y1177C" "0,0,0,0,0,0,0,0,0,0,0,0" 647024 1454 sw5594;dbsnp13334 UBX11_HUMAN;NP_892120.2 "A474V,A92S,C486S,E165G,G24E,G490C,G490S,L207F,L312R,N279S,P501S,P509S,S494C,V423M,Y150C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91544 6296 sw5595;dbsnp24950;hgmd0613_1932 SYRM_HUMAN;NP_064716.2 "D367G,E370Q,I331V,K291R,K52I,M342I,P546L,R146S,R273L,R273P,T148A,V235M,Y252N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57038 5442 sw5596;dbsnp14340 DCST1_HUMAN;NP_689707.2 "A126T,A199V,D361H,F414L,I521T,I80M,M512L,M512T,R163C,R163P,R304C,R360W,S249F,S454R,T158I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 149095 4027 sw5597;dbsnp14218 AXDN1_HUMAN;NP_653297.3 "A70V,A71T,A742V,A748V,A868T,A949T,D948G,E991Q,I522L,K435R,L150V,L323F,M43T,N596S,Q585K,Q993E,R421K,R574L,T627M,V237E,V314L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126859 2059 sw5598;dbsnp679 CJ091_HUMAN;NP_775812.1 "A142D,A89T,E130K,E144G,R96W" "0,0,0,0,0" 170393 14012 sw5599;dbsnp15315 THEM4_HUMAN;NP_444283.2 "K98N,L17R,M169V,R81H,S38C,S72P" "0,0,0,0,0,0" 117145 12119 sw559;dbsnp24329 S22A2_HUMAN;NP_003049.2 "A297G,A384S,F161L,G439E,I401M,I552N,K432Q,M165I,M1V,P54S,P67L,R400C,R463K,S270A,T201M,Y544D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6582 5751 sw55;dbsnp20208 CCD66_HUMAN;NP_001135419.1 "A323T,A556V,A668P,D702H,E592K,E592Q,E835V,E941G,G74D,I53F,I760F,K205Q,K205R,L836S,M365V,N176T,N853K,Q306R,Q383R,Q468R,R460Q,R676Q,R884P,R884Q,T446S,T806I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285331 2352 sw5600 EYS_HUMAN "A2757P,D1662V,E2503K,I1451T,I1999V,K938R,N2151S,P1739L,Q2945E,R1515W,R551L,S1517G,S1915G,T135L,T1664I,V136F,V2040D,W1484R,W1837S" "0,0,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0" 346007 128 sw5601;dbsnp28526 FKB15_HUMAN;NP_056073.1 "A1069S,A106T,A847S,D448N,H413Q,K947E,L434F,L697I,N87H,P993T,R305H" "0,0,0,0,0,0,0,0,0,0,0" 23307 1363 sw5602;dbsnp13380 AKND1_HUMAN;NP_689976.2 "A104V,C654S,C654Y,D762N,D783N,E167G,E3K,E86K,G321R,G523E,G582V,H255Y,H423Q,K226N,L352V,L803V,N45I,N616K,R608H,R608L,S108N,S232A,S309L,S353F,S61N,T10K,T10M,T190K,V453I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254268 2995 sw5603;sws694;dbsnp13558 ZEP3_HUMAN;NP_078779.2 "A1354V,A13T,A1628T,A2023P,A2132T,A2160T,A43S,D1852G,D2109A,D2231N,E1575Q,E1822K,E2139K,E336K,G1698S,G1915S,G2208E,G2272R,G783S,H2162Y,H575R,I151N,L157I,P1032R,P1079T,P127S,P1380T,P1567S,P1727L,P1962S,P1980Q,P2338L,P2376S,P2404R,P407T,P534A,P770L,P873L,P875S,Q1087H,Q1594L,R1681H,R1983H,R2001Q,R2082Q,R2206W,R2236Q,R2241Q,R838C,R967C,S1057T,S1679R,S252L,S436T,S618L,T1366M,T1587M,T1910M,T2339A,T74M,V2015M,V35I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 59269 269 sw5604;sws695;dbsnp14049 DDX59_HUMAN;NP_001026895.2 "A50P,C453Y,E179G,E268K,H171Y,I107V,I405V,I475V,L129W,L316I,N411S,N519S,P446L,R418H,S472R,S513N,S84T,V464A,Y166C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83479 4925 sw5606;dbsnp736 UTF1_HUMAN;NP_003568.2 "G73R,R237H" "0,0" 8433 9875 sw5607;dbsnp28679 CI114_HUMAN;NP_057474.2 "A63V,E31K,E59K,I369T,P90L,R200W,R374W,T130R,V140I,V340I" "0,0,0,0,0,0,0,0,0,0" 51490 9072 sw5608;dbsnp755 CJ128_HUMAN;NP_001010863.1 "D67H,P83L,P89S,V16A" "0,0,0,0" 170371 14584 sw5609;dbsnp24939 TRML2_HUMAN;NP_079083.2 "A68T,D23E,D23G,G150R,G19C,G66D,I283V,L251F,L79M,Q128K,R69Q,S144G,S248R,T129S,T193A,V25A,V285I,V50M,V54F,Y43C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79865 10366 sw560;spmut1854;dbsnp24389 S22A1_HUMAN;NP_003048.1 "C88R,C88S,F41L,G220A,G220V,G38D,G401S,G465R,I421F,I542V,L160F,L23V,L85F,L85V,M408V,M420V,M440I,N71S,P283L,P341L,R287G,R342H,R488M,R488T,R61C,S14C,S14F,S189L,S291P,V400L,V461I,V461L,V519F,V519I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6580 5780 sw5610;dbsnp13799 OTUD3_HUMAN;NP_056022.1 "A333T,A394T,D227A,N321S,R347Q" "0,0,0,0,0" 23252 8621 sw5611 AKCL1_HUMAN R50H 0 340811 14105 sw5612 CCYL2_HUMAN "I288V,R176Q,V57E" "0,0,0" 414194 9385 sw5614;dbsnp461 ARMC4_HUMAN;NP_060546.2 "A1041S,D204E,D425Y,D995N,E69Q,G288V,G495D,G781V,G960D,I343T,K332R,K552Q,N935K,N978S,R413G,R413Q,R570Q,R666Q,R787C,S1029F,S191P,S195C,S426N,T9M,V295L,V979M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55130 1922 sw5615;spmut1268;dbsnp432 MPP7_HUMAN;NP_775767.2 "A106T,A406T,A72V,D238N,I216T,K322R,P359L,P65L,R325H,S90N" "0,0,0,0,0,0,0,0,0,0" 143098 5468 sw5616;dbsnp24993 TM63B_HUMAN;NP_060896.1 "A812T,I494M,R394C,T814M,V307M" "0,0,0,0,0" 55362 3022 sw5617;dbsnp13640 LRIF1_HUMAN;NP_060842.3 "A438T,I477V,I641M,K636N,L681I,P734L,Q285E,S599P,S685N,T612I" "0,0,0,0,0,0,0,0,0,0" 55791 3453 sw5618;dbsnp24697 MRP7_HUMAN;NP_001185863.1 "A123V,D1109N,D208E,D706Y,G323S,G51S,I948T,K864E,L1046F,L325F,L847M,L894F,N342S,N437D,P162T,P163A,R1023Q,R1132Q,R1256W,R1295W,R171H,R261H,R374H,R458W,R654C,R965H,S1097G,T1195M,T1238I,T539M,T926P,V1116M,V436I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89845 841 sw5619;dbsnp13794 CAF17_HUMAN;NP_001010867.1 "A182S,A345T,F284S,G211S,I327T,P164L,T200I" "0,0,0,0,0,0,0" 200205 9516 sw561;dbsnp22269 ACOX3_HUMAN;NP_003492.2 A645T 0 8310 4072 sw562 CXX1_HUMAN S152W 0 8933 12761 sw5621;dbsnp99;hgmd0613_692 RBM20_HUMAN;NP_001127835.1 "A117V,D888N,E1223Q,E725K,G232D,P1089A,P173T,P638L,R1221C,R634Q,R636H,R636S,R641Q,R673Q,S161R,S236P,S637G,S75L,T1015I,T177I,T484I,V1111M,V535I,W768L,W768S" "0,1,0,0,0,0,0,1,0,1,1,1,0,0,0,0,1,0,0,0,0,0,1,0,0" 282996 1338 sw5622;sws696;dbsnp4939 TMTC4_HUMAN;NP_001073137.1 "C457Y,G262S,G462S,H689R,I356T,T454M,T6A,T722S,T79P,V125I,V286L,V286M,V392I,V419I,V612M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84899 3521 sw5623;spmut2401;dbsnp654 ZFY27_HUMAN;NP_653189.3 "A21V,G138V,G191V,L80F,P11L,P27A,S43F,V82I" "0,0,1,0,0,0,0,0" 118813 8263 sw5624;dbsnp876 SFRP5_HUMAN;NP_003006.2 "A136T,D103N,D118Y,D273A,G250S,G7A,K212N,K289E,R218W" "0,0,0,0,0,0,0,0,0" 6425 10469 sw5625;dbsnp673 CJ114_HUMAN;NP_001010911.1 "R73P,R98L,V74I" "0,0,0" 399726 14148 sw5626;dbsnp25052 CF052_HUMAN;NP_001138492.1 "A13D,A13V,R30T" "0,0,0" 347744 13880 sw5627;dbsnp25143 GCNT6_HUMAN;XP_932622.4 "A242V,E82G,G366R,P316L,R334H,T135M,V80A" "0,0,0,0,0,0,0" 644378 8774 sw5628;sws697;dbsnp12914 UBR4_HUMAN;NP_065816.2 "A177S,A2996V,A3047T,A3895T,C3430S,D2398Y,E1324D,F4134V,G2745A,G4924R,G5163S,G894V,H1598L,I2017V,I2653V,I3550V,I4885V,K989Q,M4867L,M844V,N2330S,N2784K,N3738S,P1190L,P4207L,P4746L,P5021L,P800S,Q1111H,R2995W,R5055H,R671Q,S1103N,S1343F,S5028R,S893N,T1107A,T1272I,T2922A,T4810M,T789A,V1310I,V1923I,V4397L,V474I,V5084M,V955I" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23352 24 sw5629;dbsnp24566 SYC2L_HUMAN;NP_001035364.2 "E574K,G122R,I333M,K112N,N647D,P486L,P672S,S134L,V94I" "0,0,0,0,0,0,0,0,0" 221711 3129 sw5630;dbsnp13665 ARTN_HUMAN;NP_476432.2 "Q19R,T26I" "0,0" 9048 12373 sw5631;dbsnp24466 STXB5_HUMAN;NP_001121187.1 "A793S,I263V,L412V,M754I,N436S,Q1079L,Y1018C,Y502C" "0,0,0,0,0,0,0,0" 134957 1549 sw5632;dbsnp13776;dbsnp13777 SWT1_HUMAN;NP_060143.4;NP_001098988.1 "G141V,H536R,I148V,I156V,K182N,K182R,K303E,L638F,N821D,Q274E,S43Y,T558A" "0,0,0,0,0,0,0,0,0,0,0,0" 54823 2614 sw5633;dbsnp24360 CF118_HUMAN;NP_659417.2 "A103V,A151V,A309G,A347V,C462Y,E4K,G271E,G453V,I256M,L287P,P325L,P325Q,P33L,Q323K,R166L,R385Q,R53W,T116M,T18M,T301M,T328M,V273D,V363L,Y458H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 168090 7220 sw5634;dbsnp158 SKT_HUMAN;NP_062536.2 "A145G,A1507T,A528T,A593V,A641V,A887T,A914P,C436Y,E1297D,G1288V,H1162Q,I1411V,I484V,K591R,M1200V,N1859S,N252S,P1216L,P1362A,P1434Q,P459L,P614H,P878T,Q1515H,Q669R,R1454W,R403Q,R46C,R508H,R808H,S16L,S1813N,S802G,S900P,T1300M,T1342R,T1462I,T1498A,T1745M,T179M,V1021L,V319M,V637M,V892M,Y101C,Y982C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56243 456 sw5635;dbsnp28476 K1984_HUMAN;NP_001034463.4 "D129A,D174N,E220G,I188T,L113R,L144M,M293T,M38T,M457I,N421T,R242Q,R520W,T288I,T69S,V430L,W342R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84960 6070 sw5636;spmut1768 RHG21_HUMAN "A1726T,E1628K,T1593A,V1610A" "0,0,0,0" 57584 448 sw5637;dbsnp29174 CAMP1_HUMAN;NP_056262.3 "A146G,A476V,C1164R,L569F,P236S,P363L,P557L,P632L,S1204N,T127I,T466N,T732S,V1076M,V1221I,Y399H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157922 734 sw5638;dbsnp24456 GP110_HUMAN;NP_722582.2 "A378V,F242L,G462A,I227T,I381M,I571M,I642T,I787V,M573I,Q448H,R426Q,R443K,R443T,R463H,R624C,R624L,S248C,S484L,S96R,T13I,T201I,T649I,T658I,T721M,T803P,V45F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 266977 2560 sw5639;dbsnp14686 ZN648_HUMAN;NP_001009992.1 "A184T,E112K,E42K,H290Y,L441P,M1K,N111K,N527D,P365R,S348A,S436F" "0,0,0,0,0,0,0,0,0,0,0" 127665 5574 sw5640;dbsnp25156 RM02_HUMAN;NP_057034.2 "A2V,G179R,G279R,I74V,L217V,M33V,P299S,R51H,S300F,T73A" "0,0,0,0,0,0,0,0,0,0" 51069 10754 sw5641;dbsnp584 CC147_HUMAN;NP_001008723.1 "D840E,E156D,E441V,F154S,G594W,H437R,K351E,M759V,N398S,Q297E,Q804H,R320H,R549Q,R696C,S496T,T868N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 159686 2758 sw5642;dbsnp590 CJ062_HUMAN;NP_001009997.2 "E121D,E44K,G114E,I150T,R10I,R186W,R221H,S212N" "0,0,0,0,0,0,0,0" 414157 12473 sw5643 AVPI1_HUMAN A41G 0 60370 13972 sw5644;dbsnp13356 AT7L2_HUMAN;NP_699171.3 "A323V,N504S,P495S,R195S,R406Q,R630H,R672W" "0,0,0,0,0,0,0" 127002 3860 sw5645;spmut461;dbsnp28978 DCA12_HUMAN;NP_056212.1 "A222V,A303V,D181E,Q138P,R131Q,V255G" "0,0,0,0,0,0" 25853 7343 sw5646;dbsnp28390 UBAP2_HUMAN;NP_060919.2 "A756V,F869C,G471E,H1080Y,K464N,L667I,M39V,M762I,N143S,N309H,N606S,P1084S,P349S,P429L,P908A,P908S,R14Q,R441Q,R625K,R834W,S1053L,S543L,S568L,S597F,S728N,S751F,V160A,V594I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55833 1658 sw5647;dbsnp28497 GNTK_HUMAN;NP_001001551.2 "A74V,E107G,G48A,G76R,K185T,R58W,V130A" "0,0,0,0,0,0,0" 414328 13227 sw5648;dbsnp24994 CF070_HUMAN;NP_060811.1 "H371R,H81Y,I92V,L530P,M482I,N388D,Q118R,Q89K,R494G,R502H,R576H,S540G,S659I,T505A,T86N,V188A,V416I,Y221N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55780 4288 sw5649;dbsnp24395 F162B_HUMAN;NP_001078949.1 "A120T,I114T,Q71H" "0,0,0" 221303 13677 sw564;spmut1239;dbsnp25451 MK13_HUMAN;NP_002745.1 "A282V,A300T,E49K,R360Q,S41L,T244M" "0,0,0,0,0,0" 5603 9253 sw5650;spmut792;dbsnp24792 GPC6A_HUMAN;NP_683766.2 "A224S,A224T,A902P,D371N,F464Y,F657L,F771L,F771Y,H282R,I144R,I254T,I599T,I768M,I843T,K772E,K772T,L600F,M788L,N510H,P528S,P704S,P91S,R187Q,R382G,S885Y,S886G,S924L,T679M,T712M,V237M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222545 2456 sw5651;dbsnp758 CJ025_HUMAN;NP_001034469.2 "F60L,I63N,P61L,R38H,W42C" "0,0,0,0,0" 220979 14377 sw5652;dbsnp13180 KPRP_HUMAN;NP_001020402.1 "C113R,C413S,G241E,G538V,H373Q,P257R,P402L,P404L,P438A,P444L,P470S,P500S,P532T,Q101P,Q14H,Q14P,R168H,R312C,R419H,R461H,R492T,R496S,V107I,V18I,V37A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 448834 5428 sw5653;dbsnp13166 XP32_HUMAN;NP_001019850.1 "A164V,C172Y,C74R,L173V,M234V,R176W,S26T,T159P" "0,0,0,0,0,0,0,0" 100129271 11912 sw5654;dbsnp13517 LCE1C_HUMAN;NP_848128.1 "C106Y,C16Y,C67F,S59G" "0,0,0,0" 353133 14422 sw5655;dbsnp14300 LCE1D_HUMAN;NP_848129.1 "G45R,G69S,N59S,P12L,R78H,R84H,S107G,S88N,S88R,T21P" "0,0,0,0,0,0,0,0,0,0" 353134 14422 sw5656;dbsnp14392 LCE1E_HUMAN;NP_848130.1 "C118G,G102D,G111S,G58D,G61V,G72R,P90T,S42F,S47N,S59G,S92N" "0,0,0,0,0,0,0,0,0,0,0" 353135 14422 sw5657;dbsnp564 IFT1B_HUMAN;NP_001010987.1 "A102S,A150P,A150V,D91E,E176K,E461K,G180R,H391Y,I302V,I473T,K8N,L188P,M108T,R133H,R368C,S246R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 439996 6967 sw5658;dbsnp28939 KIF24_HUMAN;NP_919289.2 "C518R,D1240E,D50E,E1158D,E1177D,E1300K,E252G,E981Q,G1047V,G1364R,G591V,H1078Q,H991Y,L1206R,M140V,P1066R,P1269L,Q1330R,R1009K,R109G,R1261T,S1068L,S1145T,S566F,S670C,S837F,S891C,T1040S,T1077K,T294I,W218L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347240 1035 sw5659;dbsnp14309 F132A_HUMAN;NP_001014980.1 "A180V,C231R,G14R,L261V,P105S,Q262P,R81Q,S194L,T168M,V286I" "0,0,0,0,0,0,0,0,0,0" 388581 10814 sw565;spmut182;dbsnp20103 ATX7_HUMAN;NP_000324.1 "G782R,I573V,K264R,M641V,N325S,P663S,R544H,S71A,V862M" "0,0,0,0,0,0,0,0,0" 6314 2364 sw5660;dbsnp13839;dbsnp13840 LITD1_HUMAN;NP_061952.3;NP_001158307.1 "A421T,A502V,A539V,D287H,D397E,E101G,E428D,E483G,E536K,F276L,I22T,I37T,I61V,I628R,K329N,K500R,L860V,P39S,P549T,R27S,R504C,R504G,S298N,S842G,T613I,V226I,V246A,V309M,V365I,Y849D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54596 2799 sw5661;dbsnp13684 KANK4_HUMAN;NP_859063.3 "A970T,A987V,D459V,D955N,E353K,G671R,G701S,H171R,H822R,I325M,P250L,P286L,R448Q,R517K,R653C,R756W,R964H,T283M,T410M,T768A,T865I,V241I,V412M,V666A,V840A,V935L,Y801H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 163782 2123 sw5663;dbsnp28733 TSTD2_HUMAN;NP_640339.4 "A109D,D309V,D507N,K272R,P506T,R350K,R406H,R487H,R83Q,S433C,S468A,S50L,S50W,Y411H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158427 6378 sw5664;dbsnp407 GP158_HUMAN;NP_065803.2 "A1180P,A425G,A83T,A882T,E1035K,E1037Q,E271G,G854D,H360R,I1209V,L459F,N982S,P109L,P1121A,P60T,P934S,R448W,R480H,R525W,R980T,S1048Y,Y87F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57512 1377 sw5665;dbsnp28439 RAD26_HUMAN;NP_001010895.1 "D136E,F211S,G147E,L391F,L66V,M1V,P429T,P7S,P90S,Q138E,S427F,V470F,V592A,V65I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375748 3948 sw5666;dbsnp28470 PPR26_HUMAN;NP_055626.3 "A288T,A455P,A6T,A717V,A790V,A81T,D1180N,D57N,D935N,E806K,E903K,G1142S,G523S,G576S,G62D,G651D,G822S,G992V,K206E,K251R,L12F,M434I,M434T,N299K,N834D,P198S,P436R,P461L,P515L,P87L,P938L,Q665R,Q815R,R1174Q,R290C,R290H,R326C,R346K,R381L,R520H,R603K,R61Q,V283I,V98A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9858 1395 sw5668;dbsnp14350;dbsnp14351 HENMT_HUMAN;NP_001096062.1;NP_653185.2 "E166A,M361I,N358D,R230Q,R230W,R384H,T129A,T129M,V12I,V39I" "0,0,0,0,0,0,0,0,0,0" 113802 8724 sw5669 RBM26_HUMAN V718D 0 64062 2081 sw5670;dbsnp28402 CI066_HUMAN;NP_689782.2 "A160T,A200S,D294Y,L264R,L43R,N114D,P240S,R178Q,R231G,R47G,S184A,T23I,V198A,V288A,V34A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157983 10976 sw5671;dbsnp28388 IER5L_HUMAN;NP_982258.2 "D245E,P105S,Q61H" "0,0,0" 389792 8504 sw5672;dbsnp14117 ATD3B_HUMAN;NP_114127.3 "A199P,A296V,A332T,A374T,A519T,A574V,A71S,C606R,D474H,D474N,E200K,G609S,G620E,M410V,M525V,M619V,P476L,P642S,P643L,Q220R,Q538P,R244W,R298W,R403W,R579C,S216A,S586F,T228M,T255A,T292M,T338A,T377I,V270I,V381M,V485A,V7I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83858 4604 sw5674;dbsnp14238 TEDM1_HUMAN;NP_741997.3 "D194E,L54P,M172I,S117P,Y130H" "0,0,0,0,0" 127670 11410 sw5675;dbsnp14741 LCE3A_HUMAN;NP_848518.1 "R59C,S78N" "0,0" 353142 14422 sw5676;dbsnp14368 LCE4A_HUMAN;NP_848133.1 "E54G,G95V,I18V,M1K" "0,0,0,0" 199834 14422 sw5677;dbsnp15192 LCE2A_HUMAN;NP_848515.1 "C20Y,C3Y,D104G,D86N,Q8E" "0,0,0,0,0" 353139 14422 sw5678;dbsnp14348 LCE2D_HUMAN;NP_848517.1 "C92Y,P30T,P42T,S88C" "0,0,0,0" 353141 14422 sw5679;dbsnp13082 TTC22_HUMAN;NP_001107580.1 "A510V,G382R,I304V,K351E,L14V,L366P,R229H,R235Q,R246Q,R300C,R352W" "0,0,0,0,0,0,0,0,0,0,0" 55001 5561 sw5680;dbsnp14178 SL9C2_HUMAN;NP_848622.2 "A1104V,A396T,A505G,I219V,I229T,I660K,I973V,L1015F,Q1075E,Q404K,Q453K,R526C,R796H,R934S,T1043N,T33M,T481M,V1102I,V246I,V392I,V962F,V962I,W118C,Y310F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284525 1644 sw5681;dbsnp5038 UT14C_HUMAN;NP_067677.4 "A652T,E453D,G85V,I170V,I579M,K247E,K253E,K723E,N300Y,P547S,R319H,R571T,R58Q,R759H,S342N,S471F,T101A,V109D,V570M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9724 3436 sw5682;dbsnp944 CODA1_HUMAN;NP_001123575.1 "D405Y,D97Y,H531Q,P120S,V525M" "0,0,0,0,0" 1305 3899 sw5683;spmut2245;dbsnp14643 TUT4_HUMAN;NP_056084.1 "D1347N,D796Y,H1488L,L896F,N103D,P1354L,P1477A,Q317L,S678L,T189I,V1555L" "0,0,0,0,0,0,0,0,0,0,0" 23318 691 sw5684;dbsnp14032 DEP1A_HUMAN;NP_001107592.1 "G203D,I404R,K804E,L755F,P418S,P8L,R626Q,R753K,T278P,T642M,Y699C,Y771S" "0,0,0,0,0,0,0,0,0,0,0,0" 55635 3134 sw5685;dbsnp25248 QN1_HUMAN;NP_055710.2 "A1393V,A84P,C266S,D1065N,D1068V,D307A,E1075G,E272Q,E348Q,E790D,G692E,I146T,K1029N,K216E,K553R,K643Q,L1052P,L769V,M77I,P327S,Q128K,Q400R,Q88L,R1116K,R1209K,R1385W,R744Q,R857C,R988C,S342C,S362G,S93G,T419A,T785I,V756I,Y515C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22832 975 sw5686;dbsnp5029 FRY_HUMAN;NP_075463.2 "A1320T,A2090V,A2558T,C1324S,D2643N,G1247E,G1968S,K2181R,R2484C,R2734Q,S2382I,T2327A,T2449A,V1341I,V1724M,V2362I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10129 147 sw5688;dbsnp15511 B2L15_HUMAN;NP_001010922.1 "D90N,F151L,I87T,R149W" "0,0,0,0" 440603 13660 sw5689 ATPF1_HUMAN S62G 0 64756 9639 sw568;dbsnp6175;hgmd0613_1276 SPTC2_HUMAN;NP_004854.1 "G169A,G382V,I504F,K391R,R399Q,T555M,V359M" "0,1,1,0,0,0,1" 9517 5650 sw5690 OGRL1_HUMAN S47P 0 79627 7575 sw5691;dbsnp13524 CP4AM_HUMAN;NP_001010969.2 "C230S,C231R,D240N,F236V,G130S,G61R,H57Y,K121R,K276T,K33N,L428P,L506F,L509F,L72I,M232V,M491I,N152Y,N427S,P385L,P438L,P512A,R11C,R126W,R143Q,R144W,R435H,R471T,R505C,S226N,S414F,T81A,V185F,Y104F,Y104S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284541 6325 sw5692;dbsnp13550 LCE5A_HUMAN;NP_848525.1 "C24W,C40Y,E63K,G107A,G107V,P37T,S84C" "0,0,0,0,0,0,0" 254910 14422 sw5693;dbsnp13191 M3KL4_HUMAN;NP_115811.2 "C784G,D419N,D420N,E563D,E741D,G642R,K758N,N565S,P843S,P982L,R766W,R892Q,R892W,R977C,S597F,S621A,S792P,S937N,T622S,T900I,V728I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84451 1956 sw5694;sws698;dbsnp24960 TTBK1_HUMAN;NP_115927.1 "D316N,D694N,D741E,E744D,E760A,G623A,K1145R,L1184S,P613L,P649R,Q719P,R1044C,R1078Q,R1100C,R700Q,R976P,R976Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84630 1127 sw5695;spmut2010 SPD2A_HUMAN "L1073P,R1035Q" "0,0" 9644 1610 sw5697;dbsnp24769;dbsnp24770 FHL5_HUMAN;NP_065228.4;NP_001164278.1 "C225F,D24Y,G191D,R204G,R35H,R60W,S243R,V211M" "0,0,0,0,0,0,0,0" 9457 11201 sw5698;dbsnp24842 LGSN_HUMAN;NP_057655.2 "A486D,A486V,D442G,F270L,G333E,G46E,L314S,N137H,N26Y,N54S,P227H,Y186H" "0,0,0,0,0,0,0,0,0,0,0,0" 51557 6485 sw5699;dbsnp16298 CT194_HUMAN;NP_001009984.1 "D57G,F265L,R115H,R577G,S1071F,S598R,T481P,T86M,T896M,V1150M,Y116C,Y458C" "0,0,0,0,0,0,0,0,0,0,0,0" 25943 1490 sw56;spmut2258;dbsnp18921 TYW5_HUMAN;NP_001034782.1 "S50G,Y77C" "0,0" 129450 10520 sw5700;dbsnp16226 SE1L2_HUMAN;NP_079505.1 "G477R,G477S,H687Q,I18T,I193V,I446T,L374R,M634K,Q589H,R75C,R75H,T621M,V261G,V473I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80343 4185 sw5701;dbsnp14022 THMS2_HUMAN;NP_001099026.1 "E126K,F111L,K511E,R205Q,S603G,V291I,V431L" "0,0,0,0,0,0,0" 9473 4659 sw5703;dbsnp25507 NAGT1_HUMAN;NP_699200.2 "A214P,L182F,Q293P,Q425R,S165L,S33T,S93P,T147A,T476M" "0,0,0,0,0,0,0,0,0" 91749 6342 sw5704;dbsnp25036 ZC21B_HUMAN;NP_001013645.1 "G11D,K64T,P6S,R121C,V63L" "0,0,0,0,0" 153918 12491 sw5705;dbsnp16170 SIRBL_HUMAN;NP_001129316.1 "I42V,L301V,T248A,T51I" "0,0,0,0" 10326 6578 sw5708;dbsnp24695 HDGL1_HUMAN;NP_612641.2 "D134E,T87M" "0,0" 154150 11885 sw5709;sws699;dbsnp24319 PXDC1_HUMAN;NP_899229.2 "E205Q,L132V,P189Q,Q184H" "0,0,0,0" 221749 12303 sw5711;dbsnp14151 TMCO4_HUMAN;NP_859070.3 "A132G,A196V,A435V,A534G,A550T,E75G,G199R,G227R,G274S,G481S,G530E,H59R,L145F,L45V,N364S,Q338R,Q72K,R184W,R189H,R39P,R478H,T221M,T555I,T555S,V138I,V398A,Y130C,Y190C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 255104 4748 sw5712;dbsnp14172 AHDC1_HUMAN;NP_001025053.1 "A1256T,A157V,A935T,C1341G,P204T,P278S,R96C,S1191N,T943P,V471M,V504M" "0,0,0,0,0,0,0,0,0,0,0" 27245 732 sw5713;dbsnp24938 BIG3_HUMAN;NP_065073.3 "A1571T,A219V,A465G,A65G,A704V,E413D,E439K,E498V,G1381R,G32S,H1519Y,K1996E,K2031R,M1314I,M246T,N1253K,N2118S,P1383L,R1760T,R2159H,R457S,R757Q,S500N,S689A,S691P,T491M,V1598M,V1837G,V2120M,V696L,Y587C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57221 348 sw5714 VP13D_HUMAN I1624T 0 55187 59 sw5715;dbsnp17329 PR14L_HUMAN;NP_775837.2 "A197T,A629T,A878T,C1132F,D1367Y,D963N,D980G,E1003K,E1316K,E408A,G1006R,G1051V,G317S,H1507R,I1541L,I775V,K712Q,L1395F,L1928H,L740P,M1443T,M1594R,M1922V,M1931V,M2133R,M876I,N455S,N462S,P1744L,P946L,Q313E,R1345Q,R1380Q,R1864Q,R427H,S1151P,S1221L,S1415L,S221R,S425I,T1484R,T555S,T961I,V1071M,V1784I,V186E,V186L,V795I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 253143 357 sw5716;dbsnp17319 EFCB6_HUMAN;NP_073622.2 "A1038V,A1059V,D1018N,D758N,D780N,D860N,E1223K,E288G,E443K,E685K,F643L,H1477P,H400Y,H767Y,I569M,I63T,I821L,K438E,K640R,L644F,N1050S,N1227Y,N236T,P1150S,P706L,P711L,Q1365R,Q553E,R1164T,R1219S,R1316S,R1318Q,R1326C,R193Q,R199G,R425I,R523C,R642Q,R800W,S384A,S93N,T1053M,T1182P,T1213M,T122S,T351A,T541M,T680A,V1257M,V1337M,V166A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64800 824 sw5717;dbsnp14343 NBPFE_HUMAN;NP_056198.1 "A32T,D265N,E121D,E851K,E889Q,G276S,G916V,I861V,K269N,M334I,M578T,M653T,M847I,N843S,P202T,P873T,P920T,R52L,R571C,R646C,S151C,S243G,S844G,S844I,S864L,S867L,T170A,T905M,V854I,V897L,W264C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25832 98 sw5718;dbsnp17691 MEI1_HUMAN;NP_689726.3 "D1258Y,E657Q,G768D,K1049E,S853T,T1033I,T949A,Y632C" "0,0,0,0,0,0,0,0" 150365 1217 sw571;dbsnp9218 LX15B_HUMAN;NP_001132.2 "A311V,A416D,D163G,D235E,F628Y,G15R,G275R,G657D,I676V,L257F,P77A,Q443R,Q656P,Q656R,R252H,R361H,R417W,R461Q,R486H,R635Q,S525N,S636N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 247 4307 sw5721;dbsnp28603 ZN658_HUMAN;NP_149350.3 "A284T,A370T,E114G,E29D,E939Q,G1000R,G408V,G822R,G906R,P79S,P97L,R1038M,R19Q,R395Q,R678I,S105T,S278T,S68Y,S976C,T31M,T918S,V342L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26149 1857 sw5722;dbsnp14337 OR2G6_HUMAN;NP_001013373.1 "C160G,G152S,I158M,M105L,M258L,M59V,S93G,V248I,V48I" "0,0,0,0,0,0,0,0,0" 391211 9497 sw5723;dbsnp14149 CROCC_HUMAN;NP_055490.3 "A1073V,A108T,A246P,A39T,A439V,A800V,D208E,D41G,D463Y,D586H,E1037Q,E1048V,E1319D,E1779D,E1809A,E560Q,E562Q,E785K,E907G,G1471R,G1810S,G199R,H273Q,L297F,L298P,L556F,M724V,N420S,N481K,P1504L,P493L,P511S,Q182R,Q302E,R101C,R1097P,R1154H,R1164H,R1174Q,R1512Q,R1512W,R1573Q,R157H,R1590H,R1725W,R1746Q,R1746W,R1795G,R1805Q,R1875C,R1908C,R1975Q,R205Q,R266H,R274L,R295L,R347W,R352Q,R36W,R372Q,R377H,R377L,R539G,R675H,R691H,R757C,R7G,R918W,R92H,S1744G,T1361A,T209A,V1110M,V1885A,V26I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9696 416 sw5724;sws701;dbsnp30242 TM164_HUMAN;NP_115603.2 "I189V,S204N" "0,0" 84187 10932 sw5725;spmut1221;dbsnp10548 MEX3C_HUMAN;NP_057710.3 "S496A,T412P" "0,0" 51320 4492 sw5726;dbsnp577 HECD2_HUMAN;NP_877497.2 "D109E,D411N,P19A,S61T,V139I" "0,0,0,0,0" 143279 3397 sw5727;dbsnp1789 CBPC2_HUMAN;NP_079059.2 "A891V,C185Y,D368G,E74Q,G517R,H136L,I183V,I439V,I90R,L176R,L480P,L66F,M671I,P384A,R128Q,R349H,R620W,S110N,T333P,Y656S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79841 2605 sw5728;dbsnp7837 MCAF2_HUMAN;NP_079273.2 "A161T,A543T,G49S,H552R,I418V,I438M,M286I,M405I,N401K,R23Q,S115L,S279R,S44N,S502C,S527L,S533L,T537I,T682M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80063 4252 sw5729;dbsnp3990 CL060_HUMAN;NP_787070.2 "I56F,I56V,K51R,K65R,N103K,R39C,T169I" "0,0,0,0,0,0,0" 144608 12005 sw5730;dbsnp12126 RAIN_HUMAN;NP_060275.2 "A638V,D943N,P420L,Q947R,R601C,R843C,R936G" "0,0,0,0,0,0,0" 54922 2264 sw5731;sws702;dbsnp18239 RIF1_HUMAN;NP_060621.3 "A1023G,A863T,C2068G,D1507N,E1620K,E1882G,F447L,F447V,G836S,H2009Y,H483R,I1629M,I2137V,I221V,I224V,I465V,I757V,K1303N,K519E,K637R,K876E,L1877S,L2418V,M1398T,M2165R,M850V,N1241D,N1577S,N2021Y,N391S,P1828S,P403L,P407L,R1686G,R1686Q,R202Q,S1308Y,S1557L,S1633Y,S2265I,T368R,T986A,V1362M,V1862I,V193I,Y1097C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55183 253 sw5733;dbsnp11831 ZN468_HUMAN;NP_001008801.1 "C182F,E499G,E98K,F215L,G124D,G477R,G6S,H374R,I153V,I15V,I432T,K232I,L146S,L510F,M210L,N470D,P112S,P151L,Q163E,Q458E,R135H,R394C,S59L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90333 2403 sw5734;dbsnp29017 F108B_HUMAN;NP_001020951.1 "Q169K,R154K,T73P" "0,0,0" 51104 9399 sw5735;sws703 OBSCN_HUMAN "A1090T,A1101P,A1601T,A3389V,A4823S,A51T,D3426E,E6473Q,G1121R,G804S,H1156Q,L1133V,Q1248H,R3834G,R5598Q,S1091T,T1566M,V1508D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84033 4 sw5736;dbsnp13843 CE350_HUMAN;NP_055625.4 "A1338T,A2915T,D2246H,D522G,D592G,D774G,E224K,E2377K,E945Q,F2612S,G1213V,G457E,H1462R,H278L,I1905M,I1961M,K2324E,K2735N,K2968E,L1357V,N1814H,N190S,N2449S,N3016D,N579S,P386S,P398A,P796R,R1541K,R1890C,R275W,R77G,R892T,S1242N,S1517A,S1958F,S68C,T1088I,T1445A,T1446A,T1446I,T1811A,T2044P,T2462P,T2979I,V1241M,V2503M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9857 133 sw5737;sws704;spmut1273 MRCKA_HUMAN "A1148T,A1469V,A1699V,A1712V,I1418K,I537T,R1211H,T1618A,T231M,T780M,V1317I,Y790C" "0,0,0,0,0,0,0,0,0,0,0,0" 8476 604 sw5738;dbsnp15121 RPRD2_HUMAN;NP_056018.2 "E868K,L1428F,M351V,P772S,V786I" "0,0,0,0,0" 23248 886 sw5739;dbsnp13859 MOSC1_HUMAN;NP_073583.3 "A166T,C246S,D247H,G153S,L15H,M187K,M268I,P189L,R107H,R107L,R191H,R305Q,T165A,V96L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64757 9963 sw5740;dbsnp434 AXA82_HUMAN;NP_001621.2 "A134V,A177G,A177V,N192K,P176A,P176L,S166G,S166R" "0,0,0,0,0,0,0,0" 244 4347 sw5741;dbsnp13119 SYDE2_HUMAN;NP_115560.1 "A254T,D19N,E118G,E911D,I271T,I484M,M956V,Q175P,R417Q,S169R,S422L,S699P,V1157I,V188I,V545I,V569I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84144 1432 sw5742;dbsnp13894 LRC38_HUMAN;NP_001010847.1 "D191E,K292E,L276F,V107M" "0,0,0,0" 126755 11001 sw5743;dbsnp14428 ANGE2_HUMAN;NP_653168.2 "K419R,N444I,N77H,P97S,Q431K,R192Q,R44S,T520S" "0,0,0,0,0,0,0,0" 90806 5923 sw5744;dbsnp13014 WDR78_HUMAN;NP_079039.4 "A84E,C33W,G16A,G26D,H401P,I196T,L372P,N571Y,P134T,R424H,R832Q,S370T,S490R,S842F,V95M,W621G,W712C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79819 2906 sw5745;dbsnp13898 KLD7A_HUMAN;NP_689588.2 "A453E,A626P,A670T,G337A,G49R,G567R,G94S,H273N,K748E,K748R,L482V,M524I,P141R,P155T,P159S,P165S,P713L,Q16K,Q515R,R126W,R160S,R194P,R227C,R84K,S642L,T147P,T351P,T421N,V21L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127707 3389 sw5746;dbsnp13379 FNDC7_HUMAN;NP_001138409.1 "A420V,A698T,F668Y,G259V,G313D,G515V,G54A,I146V,I365V,L382F,N367S,N560K,P685L,R224L,S154N,S309N,T488M,T682S,T720I,V353A,V381M,W307S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 163479 3758 sw5748;dbsnp14121 MYOM3_HUMAN;NP_689585.3 "A63E,A69G,D258H,D528G,D892A,E55K,F1041L,G1119S,G662R,G854S,I1066T,I434V,K1432R,M344T,P853S,Q435R,R1124Q,R193W,R41L,R775Q,S295L,T266M,V165I,V894M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127294 921 sw5749;dbsnp13761;dbsnp13763;dbsnp13764 HHAT_HUMAN;NP_001164051.1;NP_060664.2;NP_001116306.1 "A269D,C188R,D383G,E165G,G333R,G448E,G449D,G49R,N450S,R131W,R250H,R312H,R323C,R403W,S182N,T371I,W486L,Y23C" "0,0,0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0" 55733 6769 sw574;dbsnp6009 RA51B_HUMAN;NP_598193.2 "F82C,K243R,L172W,M120T,M121T,P365R,S175R,S250A,V207L,V9M,Y180C" "0,0,0,0,0,0,0,0,0,0,0" 5890 8908 sw5750;dbsnp13283 MYOME_HUMAN;NP_055459.4 "A1066T,A1245T,A167T,A1709S,A1742S,A1757T,C708R,C708Y,D1180E,D1812E,D1910E,D2033N,D2099N,D2185V,D525N,E1005G,E1670K,E1949D,E1970K,E2001G,E391A,E410V,E56Q,F1013I,F2128L,G1130E,G2182S,G306R,H1598R,H2046Q,H2299R,H482R,I1478V,I1676F,I2015V,I2181V,I257F,I49T,I612T,I720M,K1266E,K1359E,K143E,K1454E,K2028R,K2288Q,L1272F,L1565P,L1727P,L1800I,L2346M,M311T,M537V,M783I,N13S,N150S,N1782S,N2065K,N2302I,P1172A,P155R,P2039A,P2341L,P695H,Q1033P,Q1269R,Q2060H,Q2060K,Q249R,R1217C,R1226C,R125W,R1318H,R1355Q,R1466G,R1489W,R1504Q,R1590Q,R171K,R1852W,R1857C,R1857H,R1867C,R187K,R1881H,R1978H,R2052Q,R2117W,R2145T,R2178H,R2291Q,R25L,R295C,R295G,R295H,R360T,R401Q,R419L,R681H,R870W,R927C,S1205P,S1265N,S1770R,S1829F,S1941Y,S2134C,S21I,S275L,S536T,S915G,T1322R,T1403N,T1680P,T2297A,T2297I,V1371I,V1736E,V513M,W1396R,Y1388D,Y1388H,Y2020C,Y37H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9659 280 sw5751;dbsnp15198 CBPC6_HUMAN;NP_116174.3 "E216K,G34V,S180N,V443M" "0,0,0,0" 84871 6602 sw5752;dbsnp14406 P210L_HUMAN;NP_997191.2 "H759P,H783Y,I1886V,I440T,K486E,P613L,R247H,T468I,T99M,V1196I,V1322M,V1491I" "0,0,0,0,0,0,0,0,0,0,0,0" 91181 497 sw5753;dbsnp30067 DC121_HUMAN;NP_848565.2 "D19G,H455Y,V60L" "0,0,0" 139170 7343 sw5755;sws706;dbsnp24581 ZN318_HUMAN;NP_055160.2 "A1113D,A1580T,A966V,D1737G,D2226A,E1970D,F1704Y,G2119D,G2122V,I722T,K1115R,K536R,L419P,L870V,P1002S,P1446L,P1456A,P776L,R1034C,R233Q,R526C,R526H,R632C,R633C,R84P,S1364L,S2243F,S407I,S407T,T1292I,T1583I,T1690I,V1797A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 24149 308 sw5756;dbsnp517 F1711_HUMAN;NP_001010924.1 "D810N,E473G,G383S,G697A,H458R,I643M,P465S,P635L,R556Q,S844L,T166N,V132I,V262L,V492M,Y327C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221061 2662 sw5757;dbsnp28475 FA69B_HUMAN;NP_689634.2 "A371T,D360N,E387K,G59S,K142R,M180I,P171L,R30C,R327H,R352K,S158G" "0,0,0,0,0,0,0,0,0,0,0" 138311 7926 sw5758;dbsnp472;dbsnp473 SMBT2_HUMAN;NP_001025051.1;NP_001018049.1 "A293T,C121S,E52D,H350R,M347V,N648I,P285S,P498L,P675R,Q701H,R400Q,S672A,V613I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57713 2642 sw5759;dbsnp24496 CF057_HUMAN;NP_660310.2 "P75S,Q46R,R57C" "0,0,0" 135154 14552 sw575;dbsnp5521 CTGE5_HUMAN;NP_005921.2 "E360Q,E542G,G701D,G738R,G768A,H447R,I446M,I699V,K205N,K243Q,K250E,M192I,N375S,P40S,P521A,P609L,Q162R,R407W,R715G,T193A,V251L,V6A,V72G,Y11D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4253 3150 sw5760;dbsnp13900 ADCL3_HUMAN;NP_001096640.1 "C195F,D29N,L71M,L97S,M250I,P280L,R129W,R36H,S47P,V67I" "0,0,0,0,0,0,0,0,0,0" 126767 8448 sw5761;dbsnp13563 ARHGG_HUMAN;NP_055263.2 "A367S,A79V,C526S,D233N,D603E,E229D,E681K,H370Y,M547T,N380D,Q312H,R119Q,R190Q,R283Q,R523Q,V137M,V579M,V693M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27237 3983 sw5762;dbsnp25108 CDKAL_HUMAN;NP_060244.2 "E165K,K484R,P409L,P409R,P55R,R39Q" "0,0,0,0,0,0" 54901 5429 sw5763;spmut1014;dbsnp24431;dbsnp24433 K0319_HUMAN;NP_001161847.1;NP_055624.2 "A311T,A356T,A359V,E563Q,G567S,G919A,I454T,I478M,L321P,M590V,P126T,R722W,R76C,R892Q,S157A,S264T,S508L,S703N,S773G,S9F,T142P,T704M,V54L,V774A,Y1013C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9856 1813 sw5764;dbsnp245 ATRN1_HUMAN;NP_997186.1 "C943R,G591R,I390V,N530S,P348A,P613L,Q941L,S989N,T937I,T937P" "0,0,0,0,0,0,0,0,0,0" 26033 939 sw5765;dbsnp800 PPRC1_HUMAN;NP_055877.3 "A1192V,A1244P,A1340G,A261V,A287P,C1188R,C471S,C818R,E57A,H1524N,K465R,L1228I,L83V,M875T,P1025L,P1036A,P1048S,P1122S,P1353L,P834R,R1288Q,R1428H,R1436W,S1202P,S536G,V822I,V909A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23082 674 sw5766;dbsnp24981 TM244_HUMAN;NP_001010876.1 "E86G,F111V,F80L,N60I,N62K,T73I,V84F" "0,0,0,0,0,0,0" 253582 14279 sw5767;spmut1309;dbsnp12957 MYSM1_HUMAN;NP_001078956.1 "A6G,C200S,E825K,K194E,K306T,R722C,R722S,T264A" "0,0,0,0,0,0,0,0" 114803 3039 sw5768;dbsnp14735 CCD30_HUMAN;NP_001074319.1 "A556D,E78K,G146E,G146V,G719D,H772N,H772R,I49M,I658M,R422K,S607R,Y311C" "0,0,0,0,0,0,0,0,0,0,0,0" 728621 3327 sw5769;dbsnp29021 GARL3_HUMAN;NP_115669.3 "A663T,A752S,A978P,D576E,H108R,L415M,N336S,P637S,R35P,R935W,R937Q,S917L,S954N,T361I,V522M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84253 2053 sw576;dbsnp5415 TM9S1_HUMAN;NP_006396.2 "I175M,L18M,L420V,R182W,R215H,R216W,R221C" "0,0,0,0,0,0,0" 10548 5062 sw5771;dbsnp14205 NTM1B_HUMAN;NP_001129579.1 "A72G,I127M,M66T,R13C,R209Q,S150P,S247R,S279G,V272M,V79I" "0,0,0,0,0,0,0,0,0,0" 149281 11220 sw5772;dbsnp30065 DC122_HUMAN;NP_001013650.1 "H147Q,L320V,R400K,T258I" "0,0,0,0" 340578 7343 sw5773;dbsnp28767 FOCAD_HUMAN;NP_060264.3 "A1683T,A1778V,A446S,A802V,C1195Y,D1011G,D1667N,D366N,D742V,E1112A,E721K,G1288R,G465A,G465R,I1055V,I523V,I705V,K1668E,K1792N,K702E,L109I,L1145V,L166S,L964V,M1068V,M940L,P1379S,P1499S,P163T,P790R,Q1155E,Q1749H,Q379H,Q867R,R1546Q,R1628W,S1253N,T1373A,T1373P,T1373S,T240I,T409N,T718S,T779I,V1085M,V1160I,V1606I,V234I,Y1014C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54914 558 sw5774;dbsnp28432 GP107_HUMAN;NP_001130029.1 "A189P,A599T,D81E,D91A,L229V,P592A,R288W,T304I,V600M" "0,0,0,0,0,0,0,0,0" 57720 5131 sw5775;dbsnp28709 HACD4_HUMAN;NP_001010915.2 "L91F,T36A,V119I" "0,0,0" 401494 12292 sw5776;spmut2096;dbsnp190 TAF3_HUMAN;NP_114129.1 "A751V,I330F,N442S,P653A,S349T,T265A,V696A,V696L" "0,0,0,0,0,0,0,0" 83860 2435 sw5777;sws707;dbsnp811 TCRGL_HUMAN;NP_777597.2 "E133Q,E529K,G322E,I155V,L212F,M248R,P205L,P339L,P339Q,Q566K,R574Q,S203C,T397A,V137I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256536 5322 sw5778;dbsnp29018 SNX30_HUMAN;NP_001013012.1 "D83H,E126K,I245M,P125A,P125Q,R378Q" "0,0,0,0,0,0" 401548 7818 sw577;dbsnp22454;dbsnp22455 INP4B_HUMAN;NP_003857.2;NP_001095139.1 "D171E,E2D,G554S,I314V,Q616H,S673G,T621M,V594A,V748I,Y311F" "0,0,0,0,0,0,0,0,0,0" 8821 2470 sw5780 F208B_HUMAN "A630D,C499G,I807V,K2288R,P1578S,R1075P,S2404N,S724Y,T1782I,V1206M,V1679A" "0,0,0,0,0,0,0,0,0,0,0" 54906 265 sw5781;dbsnp13439 FA46C_HUMAN;NP_060179.2 "A297T,D171N,E299K,H67Q,I281V,T149I,V16M,V353I" "0,0,0,0,0,0,0,0" 54855 7727 sw5782;dbsnp24796 MLIP_HUMAN;NP_612636.2 "A157T,D231E,D242V,G152A,G152V,H279R,I132T,I59V,L264F,L431F,P376S,R6H,S281C,S320T,S324C,T208S,T21M,V159I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90523 7438 sw5784;dbsnp14764 CA168_HUMAN;NP_001004303.3 "C463Y,D492H,E2Q,E311D,E522K,I125M,I572L,K400N,L290F,M440V,P270S,P278S,P279L,P280L,P280R,P453S,R318T,R62C,S236R,S35Y,S56P,S725R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199920 3801 sw5785;dbsnp25541 KHDR2_HUMAN;NP_689901.2 "A125T,A250V,G308A,P333L,R218Q,R326H,T222I,T296A,Y305C" "0,0,0,0,0,0,0,0,0" 202559 7713 sw5786 LYPL1_HUMAN "I131M,L197V" "0,0" 127018 12180 sw5787 SPAT1_HUMAN V153L 0 100505741 7819 sw5788;dbsnp648 LIPN_HUMAN;NP_001095939.1 "D370Y,E258K,F374V,L252F,R354S,S132L,T244N" "0,0,0,0,0,0,0" 643418 8082 sw5789;dbsnp186 LIPK_HUMAN;NP_001073987.1 "F196L,I391T,M331I,S36N,T329A" "0,0,0,0,0" 643414 8082 sw578;dbsnp8953 CHAD_HUMAN;NP_001258.2 "A342D,G189R,K48R,L191V,Q25K,R312Q,R321L,T350I" "0,0,0,0,0,0,0,0" 1101 9441 sw5790;dbsnp14023 CDCP2_HUMAN;NP_963840.2 "A178T,A329E,A406G,G139D,G244R,G372R,G411V,H339Y,L10M,L431P,P111L,R213H,R282H,T434M,V403L,Y293H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200008 7608 sw5791;dbsnp28538 CI084_HUMAN;NP_775792.3 "D1165E,E1042K,E1174G,E1340G,E1408K,G1152R,H416R,I1162T,I49T,I649T,I723M,I746V,I758L,L197P,L968P,M734L,N1380K,N809K,Q1117E,Q628H,R1258H,R1258P,R1368H,R1425C,R282C,R788K,R98K,S196L,S783T,T226S,V40F,V51E,V51I,Y932C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158401 911 sw5792;dbsnp13404 IER5_HUMAN;NP_057629.2 "E103K,G16S,P285S,Q202R,R194G,R92H,V168A,V168I" "0,0,0,0,0,0,0,0" 51278 10219 sw5793;dbsnp13127 PEAR1_HUMAN;NP_001073940.1 "D343N,F228L,G1017V,G203E,G281C,G797R,G913R,G937C,I759V,M255V,N446S,N476D,N848K,N903D,N903S,P1004T,P172L,P172Q,P208A,R73W,R885H,R939L,R967Q,S155L,S234P,S381F,S802C,T341I,T36A,V501A,W781R,Y95C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375033 1953 sw5794;dbsnp24588 RET1L_HUMAN;NP_570970.2 "C232Y,D177V,D99N,E154Q,E173K,F151L,I191T,L106R,L121P,L231F,M157V,M180T,M1V,M85T,P207T,P76H,P76S,P76T,R26G,R27G,T147I,T38I,V52I,V74I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 154064 10037 sw5795 CJ112_HUMAN "D562A,D809G,E812K,H1087Q,I573V,K1033E,K653N,L1049I,M1173T,M1379R,P1261S,S1307N,T917M,V713A,V958I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340895 866 sw5797;dbsnp28427 CI131_HUMAN;NP_976044.2 "A569G,A759T,A761V,C444Y,E130K,E382D,E540D,E6G,F426S,G301D,I591T,L173P,L285F,L288R,L437V,M15I,N231S,N422D,P339L,P725S,P916S,R187H,R55K,R795Q,S1013L,S623T,S860F,T326S,W222L,Y834H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 138724 1784 sw5798 CM033_HUMAN R59G 0 84935 10792 sw5799;dbsnp28711;dbsnp28713 TUT7_HUMAN;NP_001171988.1;NP_078893.2 "A40V,C417Y,D1374G,K1446R,K737E,K937E,L806S,N780S,R345G,R560Q,S966N,T188I,T18S,T288I,T530M,T666I,V326L,V908M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79670 1256 sw57;dbsnp13065 MBPHL_HUMAN;NP_001010985.2 "A118S,A23V,D107Y,D269N,F326S,G212S,H312Y,I64T,N103S,R102Q,R117C,R122C,R126C,R218H,R289Q,R65W,V206I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343263 1498 sw580 HMGB3_HUMAN "E56Q,T51A" "0,0" 3149 12631 sw5800;dbsnp16451 CT094_HUMAN;NP_001009608.1 "A105V,G11R,G260E,K176E,R205K,R317Q,R97C" "0,0,0,0,0,0,0" 128710 8425 sw5802;dbsnp385 ANR22_HUMAN;NP_653191.2 "E73G,Q148P,R177I,R23W,T86I,Y79H" "0,0,0,0,0,0" 118932 13150 sw5803;dbsnp528 LIPM_HUMAN;NP_001121687.1 "I257N,K86R,L229F,L274S,R418W,T346M,W18R" "0,0,0,0,0,0,0" 340654 8082 sw5804;dbsnp29285 NXNL2_HUMAN;NP_001155097.1 "P46L,R134Q,S76C,V156L" "0,0,0,0" 158046 13796 sw5805;dbsnp14060 TDR10_HUMAN;NP_001091945.1 "A263T,M115T,R181Q,R250C,V192I,V215I" "0,0,0,0,0,0" 126668 9278 sw5806;dbsnp13830 K1614_HUMAN;NP_066001.1 "A1012T,H214Y,L64P,L671F,L801F,N1078D,P1128L,P267L,Q793P,R301C,R377H,R740W,S326F,T750I,T980A,V1111M,V608L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57710 1448 sw5807;sws708;dbsnp733 JKIP3_HUMAN;NP_001098991.1 "A624S,A654V,E695K,E769K,M493V,M564T,N668K,R768C,R768L" "0,0,0,0,0,0,0,0,0" 282973 2933 sw5808 DEN4C_HUMAN "N1107H,T1030A,V991G" "0,0,0" 55667 668 sw5809;dbsnp24461 LR16A_HUMAN;NP_060110.4 "A639G,D1105N,E1363A,G1046V,G1202S,I478V,I895V,K944N,N1117S,P545L,R115T,R1345W,R59Q,R725C,R725S,V77I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55604 1030 sw5810;sws710;dbsnp14885 ZMYM4_HUMAN;NP_005086.2 "G1228R,I105V,I518V,L384F,L67M,L759F,N723S,N89S,R1267C,R152Q,R248I,T313A,V1378I,V452I,V982M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9202 779 sw5811;dbsnp12965 DUS27_HUMAN;NP_001073895.1 "A121D,A423S,A505T,A671T,A809V,A88G,D1067N,D319N,D877N,E265D,E853A,I657V,K257E,K855Q,K872E,M795T,Q1153R,Q367P,R1059C,R120Q,R204Q,R373P,R399P,R399Q,R466H,R865C,R901H,S470L,S473L,T1124N,T676M,V134L,V917I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92235 1532 sw5812 CJ122_HUMAN E38Q 0 387718 13240 sw5813;dbsnp58 CJ113_HUMAN;NP_001010896.2 "D110H,K135R,M14T,M152I,N39S,P101Q,P109Q,R62W,R72G,S41P" "0,0,0,0,0,0,0,0,0,0" 387638 13814 sw5814;dbsnp5022 MT21C_HUMAN;NP_001010977.1 "G15R,G259V,I128T,L109F,N152S,N46S,R72P,S228G,V190I" "0,0,0,0,0,0,0,0,0" 196541 11601 sw5815;dbsnp649 ARMC3_HUMAN;NP_775104.2 "A192S,D248E,E345G,E819D,I445V,I628V,I838T,M505I,M725T,M828I,P164Q,R184Q,R432H,R626Q,R834Q,S608P,V531I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219681 2759 sw5816;dbsnp202 LIPJ_HUMAN;NP_001010939.2 "D77Y,E159Q,F200V,I210V,I26S,I342V,M230L,N251K,P216S,Q289H,S110G,S70C,Y234H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 142910 8082 sw5817;dbsnp4935 F194B_HUMAN;NP_872348.2 "E178K,E260V,E349D,E63D,E99G,G141E,G495A,G87E,H453R,H453Y,I529T,L303P,L661F,M367V,P439R,Q273K,R226H,R226L,R459Q,R565C,S174T,S291L,S600I,T427I,T435S,T540A,V469A,V653F,Y103C,Y356S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220081 4108 sw5818;spmut2338;dbsnp5043 USPL1_HUMAN;NP_005791.3 "A392S,A522P,E1010K,E173G,H841R,I265L,I553T,I583V,I7T,K753R,K817M,L431F,L531S,L588V,L786I,L851V,N399H,N454K,N680S,N87K,P1004L,P384S,P5L,P842S,R558C,S1055C,S157T,S739C,S950N,T1043S,T731I,T956A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10208 1744 sw5819;dbsnp28444 BSPRY_HUMAN;NP_060158.2 "A261P,G340R,G373S,K156N,P384L,Q293H,T374I" "0,0,0,0,0,0,0" 54836 8542 sw581;dbsnp8657;hgmd0613_1083 FOXN1_HUMAN;NP_003584.2 "A283V,A599P,A619P,C586Y,H265P,H516L,I278V,L519Q,P242S,P430L,P430S,P566Q,P628H,P7L,R128W,R411W,R69C,S553G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8456 4601 sw5820;dbsnp446 F16B1_HUMAN;NP_065991.3 "F631L,I392T,L408I,N483S,P291T,Q322R,R208C,R208H,R721Q,V425I" "0,0,0,0,0,0,0,0,0,0" 57700 3473 sw5821;dbsnp16307 CST9_HUMAN;NP_001008693.2 "F58L,F58Y,L48F,M46V,M82R,R72C,S2L" "0,0,0,0,0,0,0" 128822 13740 sw5822;dbsnp23753 PAPD7_HUMAN;NP_008930.1 "G396S,K123E,N326S" "0,0,0" 11044 4092 sw5824;dbsnp3800 K2C79_HUMAN;NP_787028.1 "A393V,D217Y,E364V,F195L,G46D,G86E,H266R,H49R,K406R,L81S,N64K,Q180E,R137Q,R139H,R161Q,R203Q,R30C,R356W,R367C,T104M,T271N,T527M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338785 5134 sw5825;dbsnp14771 BTBD8_HUMAN;NP_899065.2 "C21R,F85L,H254R,I264M,K136R,V60I" "0,0,0,0,0,0" 284697 9020 sw5826;dbsnp29616 F104B_HUMAN;NP_612371.2 "D74N,E101K,I53L,L85F,N105S,N18S,N76T,S50N,S60G" "0,0,0,0,0,0,0,0,0" 90736 14461 sw5827;dbsnp21081 RN123_HUMAN;NP_071347.2 "A1216V,A49V,E32G,E739G,G1199A,K596E,L452F,P51R,R1207Q,R255C,R329C,R387Q,R443C,R613W,R854H,R937W" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63891 1138 sw5829 FBW10_HUMAN "A821T,I23N,R372G" "0,0,0" 10517 1887 sw582;spmut1931;dbsnp1560;hgmd0613_791 SHIP2_HUMAN;NP_001558.3 "A1083G,A1114G,A1245S,A212T,H858P,K303N,L632I,L996M,N982S,P1071H,P123L,P952S,R209H,R209P,S448L,T213A,T569M,T805M,V721M,Y777S,Y815S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3636 1257 sw5830;dbsnp1838 ANO1_HUMAN;NP_060513.5 "A976S,E48K,F608S,G498E,G983R,R307H,V43G,V529M,V62G" "0,0,0,0,0,0,0,0,0" 55107 2095 sw5831 2B1D_HUMAN "G113R,L97R,R77L,R77W,V79L" "0,0,0,0,0" 3123 11408 sw5832;dbsnp6695 CD276_HUMAN;NP_001019907.1 "A231V,A279T,A358T,D36A,G508R,G510R,P185S,P315L,P97L,Q137L,Q169R,R111S,R127W,R267H,R329S,R387Q,T160M,T378M,V408M,V429M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80381 6072 sw5833;sws711;dbsnp20759;dbsnp20760 AL2CL_HUMAN;NP_001177636.1;NP_667340.2 "A212T,A298V,C386F,D339N,E45Q,E530V,G494S,G730S,H155P,H941R,I176T,N549S,P376L,Q29R,R130W,R482H,R607W,R634C,R733Q,S949F,T182A,T749R,V208L,V382M,Y930H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259173 2318 sw5834;dbsnp7512 ZKSC2_HUMAN;NP_001012999.3 "A166V,A574V,A876T,D335E,D679N,D699N,D699V,E615D,G778D,G855S,K356R,L253F,P590S,P942L,P947S,R189L,R431H,R431L,R762H,R878Q,S371R,S528R,S871G,T289S,T515S,V152A,V265M,V644L,W288R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342357 2250 sw5835;dbsnp11655 TSH3_HUMAN;NP_065907.2 "A65T,A685T,C277F,E469G,E493K,L1078F,P585L,P687L,S58G,S819L,T340N,T706A,V445M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57616 1781 sw5837 F205B_HUMAN "D203E,N72K,V229M" "0,0,0" - 1099 sw5838;dbsnp9280 RN213_HUMAN;NP_001243000.1 "A1041T,A1041V,A1355T,A2443V,A2473T,A2874T,A2914T,A3006T,A3193V,A324G,A3468V,A3481V,A3800V,A3801V,A4399T,A4589V,A4882V,A5021V,C3008R,D1331G,D1500N,D2331N,D2554E,D2554N,D3308G,D3731G,D4013N,D4166N,D4193H,D4273N,D4414G,D4863N,D5160E,E1272Q,E168K,E203D,E2760K,E2912D,E3005K,E3010D,E35K,E3915G,E4950D,E5176G,E5184A,F306S,G2611R,G2735S,G3484S,H4691R,H708D,I209N,I2240V,I2417S,I2520L,I3257V,I3318V,I4535T,K4732E,K4732T,K605N,L133M,L2738V,L4093H,L4283I,L4649V,L4752H,L4752P,L4901F,L907V,M1928I,M2011T,M270T,M321T,M3546V,M3789T,M3891V,M4324I,M49V,N2327D,N394D,N3962D,N921K,P1243L,P15L,P1721L,P173T,P2976Q,P375L,P4250T,P4531L,P4608S,P4730T,P61L,P706S,P729L,Q1133K,Q1234R,Q2184R,Q469H,Q5180H,Q742E,R1983W,R2115H,R2285T,R2613H,R2649K,R2704Q,R2704W,R2709T,R3290S,R3447K,R3480W,R3796G,R4019C,R4060C,R4062Q,R4062W,R4317Q,R4417H,R4499Q,R4810K,R4822T,R4889H,R5092Q,R5151H,R673Q,R941L,S102C,S164P,S2108L,S2334N,S3274L,S3496L,S4389G,S4814R,T1315M,T1636M,T1661M,T2104R,T2182M,T2941M,T3243A,T4444I,T4638I,T688M,T808M,T919K,V1195M,V1469L,V2052M,V2097I,V2130I,V3423A,V3838L,V3941I,V4292M,V4453I,V4513M,V4567M,V4765M,V5028I,V817I,W4677L,Y4981H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57674 22 sw5839;dbsnp22405 AP1AR_HUMAN;NP_061039.3 "P139S,T197A,T297I,V49A" "0,0,0,0" 55435 10815 sw5840;dbsnp23175 EGFLA_HUMAN;NP_001192230.1 "A408S,A930V,D254N,D546E,D922N,D943G,E431K,E672D,E804D,G454R,H576N,K295Q,L591F,Q84R,R111H,R227C,R227S,R246C,R26P,R444Q,R529Q,R674H,R767Q,R897W,R927Q,S749L,T190S,T320M,T473M,T49M,T847K,T847M,T96I,T96S,T97M,V35L,V671M,V745M,V88M,W229R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133584 2036 sw5842;dbsnp10979 KANK2_HUMAN;NP_001129663.1 "A393G,A490T,A554V,A653V,G118S,G471S,M369V,M401T,M838V,N609K,P324L,Q201K,Q563R,R197W,R380C,R559L,R633H,R727Q,R751Q,S217L,S425L,S848L,V447M,V4I,V502M,Y111C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25959 2841 sw5843 NSN5C_HUMAN "A90V,C272R,K303R,W47S" "0,0,0,0" - 7213 sw5844;dbsnp5606;dbsnp5607 WDR25_HUMAN;NP_001154948.1;NP_078791.3 "A124T,A204T,G61E,H149R,H67P,K59R,P46S,R133C,R206H,R299Q,R413L,S20L,T119M,V157I,W88R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79446 5924 sw5845;dbsnp6821 F154B_HUMAN;NP_001008227.1 "A340G,D86Y,F188L,P34L,P359S,R31C,S371P,S56L,S8G,T115A,W225R,Y369S,Y57C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 283726 8622 sw5846;dbsnp9736 WSCD1_HUMAN;NP_056068.1 "A161V,A202V,D152A,D152N,D537N,E544K,F20L,G216D,H212Y,N270S,P51T,R14Q,R303W,R554W,T301I,V273M,V408I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23302 5484 sw5847;spmut2055;dbsnp19104;dbsnp19106 STEA3_HUMAN;NP_001008410.1;NP_060704.2 "A184T,A211G,G169S,L267P,M5V,R126C,R330H,R389K,R63C,T216I,T474M,V224I,V232I,V56G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55240 6703 sw5848 F91A1_HUMAN "C800Y,I704V" "0,0" 157769 2976 sw5849;dbsnp22266 LAR1B_HUMAN;NP_060548.2 "E767K,H504Y,I520M,K570N,K603R,M195V,M471V,M582V,P333A,P462R,P897L,P901S,R157Q,R221H,R660H,R871H,S900F,T687A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55132 6267 sw584;dbsnp13692 MOT5_HUMAN;NP_004687.1 "A185T,A78S,E221A,I59F,K238M,M66K,N264H,S371A,T348M,V46M,V471A" "0,0,0,0,0,0,0,0,0,0,0" 9122 6884 sw5850;dbsnp21983 CP135_HUMAN;NP_079285.2 "A559T,D800H,E378G,E923K,I689V,I769L,I769V,I936V,L1089I,M582V,M991V,N972D,R112H,R1138S,R22C,R436Q,R454G,R471K,S407N,S997L,T265I,T265P,T2A,V213A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9662 1585 sw5851;sws712;dbsnp22941 TBC9B_HUMAN;NP_942568.2 "A1095T,A1104V,A1240T,D1222Y,D223N,D896E,E1090K,E819K,F692S,G1130A,G910E,K1119T,K370E,L240P,L247V,L650P,L650Q,M1004T,P464R,P930L,Q1136R,R807Q,R841C,R999W,S229C,S776R,T350S,T948I,V1177M,V169M,V200M,V48M,V706I,Y998C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23061 1240 sw5852;dbsnp11698 MAP1S_HUMAN;NP_060644.4 "D1006H,E907K,G320C,G500R,G937R,L372V,N259S,P538Q,P707L,P850L,R1005H,R498C,R563S,R769W,R861H,R868G,S111P,S411C,V50F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55201 1858 sw5853 CBPZ_HUMAN "I486T,L5P" "0,0" 8532 4567 sw5854;dbsnp14745 RUAS1_HUMAN;NP_001034606.1 "H133Q,R231S" "0,0" 284618 12194 sw5855;spmut569;dbsnp7308 E4F1_HUMAN;NP_004415.2 "A118D,A118T,A385T,A648E,A684T,G365R,K579R,Q748R,R167H,R740Q,T622M,V122M,V355I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1877 3322 sw5856 2ABD_HUMAN G358S 0 55844 7525 sw5857;dbsnp4263 AR6P4_HUMAN;NP_061164.2 "G228E,K225R,K239N,K239R,K247T,P115L,P88A,R303Q,R355Q" "0,0,0,0,0,0,0,0,0" 51329 9416 sw5858;dbsnp26380 ATG9B_HUMAN;NP_775952.4 "A791V,A804V,E825Q,I858M,P147L,P166L,R12K,R141W" "0,0,0,0,0,0,0,0" 285973 2471 sw5859;dbsnp14363 KAZRN_HUMAN;NP_963922.2 "A677S,A677T,A706T,L194P,Q86K,R209Q,R601C,R688Q,R763C,S712N,T220M,T604M" "0,0,0,0,0,0,0,0,0,0,0,0" 23254 3405 sw585;dbsnp23808 HDAC3_HUMAN;NP_003874.2 N411S 0 8841 6871 sw5860;dbsnp18351 A16L1_HUMAN;NP_110430.5 "E307K,G303S,R219Q,R258Q,T300A" "0,0,0,0,0" 55054 5051 sw5861;dbsnp9286 B3GNL_HUMAN;NP_001009905.1 "A102T,A341T,E151K,P194L,P259S,R152Q,R221C,R230C,R275Q,S104R,S13R,S185L,V222M,V330I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146712 9386 sw5862;spmut1825;dbsnp9582 RPGP2_HUMAN;NP_055900.4 "D17N,G522C,I197N,K671Q,L202M,M625L,R208Q" "0,0,0,0,0,0,0" 23108 3779 sw5863;dbsnp26411 MUC17_HUMAN;NP_001035194.1 "A1413V,A1468V,A1515P,A1606T,A1844E,A1852T,A1858P,A1868P,A1880V,A1902T,A2081D,A2096T,A2414T,A2434T,A2775P,A292V,A3235T,A3318G,A3534V,A4144T,A427T,A941V,C1375R,C1375Y,D2384G,D2423A,D2502G,D2748E,D4312N,D4334N,D832G,E1412G,E1570D,E1853D,E1883D,E1942K,E3267D,E4171G,E940G,F2310L,G1040E,G1088C,G1307S,G1427V,G144D,G1618D,G1688E,G1913C,G1913S,G2022S,G2048R,G2376S,G2474S,G272E,G2856D,G2867E,G3151D,G3279R,G3932R,G4155E,G863E,G911D,G920R,H2417L,H4035R,I1130T,I1443V,I1506T,I1519M,I1663V,I1857M,I1872M,I1943T,I2269R,I2446M,I2603T,I2625T,I2780T,I3060S,I3241T,I3639L,K227Q,K2846E,L1003F,L1112P,L1299S,L1348P,L1578V,L1950P,L2109V,L2358I,L2516P,L3066F,L3379S,L374F,L926F,M1047T,M1807T,M226I,M226T,M2407T,M2487V,M2997T,M3174T,M3330T,M3806I,M929T,N1469S,N1717T,N2194T,N2337S,N3545H,N49S,P1066T,P1225S,P1249A,P1319L,P1321T,P1479A,P1631L,P1681Q,P1814S,P1849L,P1851T,P1956A,P2221R,P2303L,P2319S,P2408L,P2467L,P2716A,P2716S,P281T,P2T,P3057L,P3159S,P3351T,P3410L,P3469L,P3508T,P3528L,P3659H,P3935A,P447L,P571L,P925R,P935L,P978L,Q1564P,Q1903E,Q1903P,Q3553P,Q4187H,Q4212E,R1046H,R1111T,R1728H,R2159G,R2199H,R2342S,R3009T,R3567H,R4333Q,R4482Q,R50H,R903H,R942S,S1057F,S1083P,S1097R,S1100G,S1237N,S1242T,S1267R,S1277I,S1333T,S1533N,S156N,S1619T,S1694N,S1788L,S1812N,S1846I,S1846T,S1866R,S1866T,S1914N,S1961P,S196L,S2052N,S2059F,S2175T,S2216R,S2224G,S2228N,S224G,S2352G,S2494T,S2634P,S2785A,S2799R,S3260I,S3285G,S3285I,S3285N,S3299N,S3457N,S3535N,S355L,S3646L,S3673N,S389R,S486P,S526Y,S775N,S861T,T1006I,T1059M,T1069P,T1093A,T1093I,T1159I,T1170M,T1193P,T1241P,T1246N,T1246S,T1256I,T1262S,T1273A,T1288K,T1291S,T1305S,T1423N,T1474A,T1541P,T1557A,T1573A,T1666N,T1686S,T1723N,T1778N,T1796I,T1808N,T1855I,T1855S,T1867P,T1884A,T1886S,T1945S,T2054M,T2155A,T2180I,T2190K,T2308S,T2355I,T2432A,T2557I,T2611A,T2702K,T2754I,T2808R,T2820K,T2820M,T2842A,T2947N,T2975A,T2987I,T3016I,T3056M,T3099N,T3193I,T3205A,T3206A,T3284I,T3292P,T339M,T3453S,T3580S,T3682S,T3766M,T3934I,T4027M,T4107M,T4143S,T4152I,T415A,T4269I,T484S,T511I,T688S,T707N,T707S,T879S,T894K,T959A,T982A,T982M,T983N,V1106L,V1106M,V1191L,V1309M,V1421A,V1480A,V1540D,V1715I,V1845G,V2172L,V2296A,V2463I,V2463L,V2631G,V2858I,V3677A,V4247M,V583A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140453 54 sw5864;dbsnp26143;dbsnp26144 STEA4_HUMAN;NP_078912.2;NP_001192244.1 "A122T,G75D,G75V,R277H,R318L" "0,0,0,0,0" 79689 7415 sw5865;dbsnp28537 OLM2A_HUMAN;NP_872293.2 "A208T,A330P,A365G,A393V,E379K,E527K,N98D,Q273R,R172H,R197H,R391T,R400W,R425Q,T25A,T309A,T606M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 169611 4568 sw5866;dbsnp13855 OLM2B_HUMAN;NP_056256.1 "A12S,D403V,D637E,E182D,L269P,N213S,N652S,P266A,P289L,P560S,Q411H,R226C,R288W,R347Q,R367W,R488Q,R86W,S372Y,S379L,S384R,S399L,T149A,T456I,V306F,V678L,W470R,W470S,Y10C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25903 3610 sw5867;dbsnp27564 SLIP_HUMAN;NP_001010906.1 "A186V,D190G,D302E,H330Q,L405Q,P12L,Q328R,R23P,R492W,S180G,S41P,S474N,T24M,T678M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389643 3239 sw5868;dbsnp10439 TPGS2_HUMAN;NP_056291.2 "D120E,D124N,G281S,R47C" "0,0,0,0" 25941 10853 sw5869;spmut868 HGNAT_HUMAN I280R 1 138050 4445 sw586;dbsnp14612 NVL_HUMAN;NP_002524.2 "C359G,D234V,G7E,H316R,I201V,I204V,I779V,I839V,N637H,N653T,P727R,Q247R,R152Q,S853P,V295I,V404I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4931 2856 sw5870;sws713 HEAT8_HUMAN "E316G,H182R,H618R,K455R,S312F,T352M,V290M,V509A,Y306D" "0,0,0,0,0,0,0,0,0" 374977 1121 sw5871;dbsnp13045 DIEXF_HUMAN;NP_055203.4 "D344N,E635K,G111D,H577Q,K18E,K19N,L636M,P239S,P277R,Q67E,R332C,R437Q,R607H,T639A,T714M,V416I,V545L,V732M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27042 3557 sw5872;dbsnp20385;dbsnp20386;dbsnp20387 GL8D1_HUMAN;NP_001010983.1;NP_060916.1;NP_690909.1 "A80T,A80V,R210H,T278N,V207A" "0,0,0,0,0" 55830 9182 sw5873;dbsnp21673 SE1L3_HUMAN;NP_056002.2 "G364E,I401V,I554V,L729F,M226T,P1122S,Q107R,V96I,W1054C" "0,0,0,0,0,0,0,0,0" 23231 1620 sw5874;dbsnp22326 LRC66_HUMAN;NP_001019782.1 "G342A,L404V,P295T,R138C,V542M" "0,0,0,0,0" 339977 2713 sw5876;dbsnp26258 TENS3_HUMAN;NP_073585.8 "A664V,E1034K,G187D,G679S,I1132F,P1099S,P509S,Q600H,Q825P,R329P,S361N,S504L,S976P,T1050A,T1072M,T1296M,T377P,T511P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64759 908 sw5877;dbsnp22256 HAUS3_HUMAN;NP_078787.2 "A75V,E143K,G518E,I435V,I586T,L387V,R399Q,S183C,T448I,Y402C" "0,0,0,0,0,0,0,0,0,0" 79441 5102 sw5878;dbsnp9140 SLN13_HUMAN;NP_653283.3 "A50T,A523T,C259W,C487S,D115G,D152N,D642V,E306Q,E652K,F237S,F492L,G114D,G422R,G456E,I475V,K658N,M431I,N124S,N4S,P433L,P635T,Q743R,R489C,R489H,R489L,R590H,R643G,R647Q,R651W,R682G,R871T,S235F,S253C,T675I,V789M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146857 2611 sw5879;dbsnp2582 SPT2_HUMAN;NP_919261.2 "E148K,I101V,K215R,K617R,K680R,N271S,P435R,P472S,R301C,R447Q,R685H,S253F,S317F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 144108 4216 sw587;spmut205;dbsnp11882 BCAT2_HUMAN;NP_001181.2 "E177K,F139L,G74S,I383F,K374E,Q100E,R325W,R333W,T186R" "0,0,0,0,0,0,0,0,0" 587 8629 sw5880;dbsnp14315 DEN2C_HUMAN;NP_001243333.1 "A155T,C127Y,C42W,D170G,D2E,E775K,G397S,H474R,I56L,N163Y,R362G,R458G,R638C,S223P,S687F,T226M,V180F,Y315H,Y833H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 163259 2442 sw5881 C102B_HUMAN "A429P,C346F,E370G,K153N,K298R,N425K" "0,0,0,0,0,0" 79839 6428 sw5882 MBLC2_HUMAN T128A 0 153364 11290 sw5884;dbsnp28844 ANKS6_HUMAN;NP_775822.3 "A220T,D313N,E178K,E490K,N522S,P585T,R222W,V644I" "0,0,0,0,0,0,0,0" 203286 2762 sw5885;dbsnp6410 PA24F_HUMAN;NP_998765.3 "A433T,C554Y,G30V,G323R,G727E,H602Q,H773Y,I401L,I553M,K717R,L252V,L458F,M740V,P549R,P799R,R449Q,R502C,R608Q,R629H,R744H,R814Q,R820Q,S635G,S732I,V109I,V247M,V816G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 255189 2902 sw5886;dbsnp20039 K2018_HUMAN;NP_001009899.2 "A1966S,A1966V,A907E,E975K,L249F,P222A,S1818G,S871N,V2200A,V337L,V454E,V776L,V943G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 205717 318 sw5887;sws714;spmut2400 ZFY26_HUMAN "A1122V,C1457Y,K429E,P1103L,R2411H,S1071N,S1891N,T898S,T951M" "0,0,0,0,0,0,0,0,0" 23503 232 sw5888;dbsnp18364 CB016_HUMAN;NP_115642.3 "A660E,C1687R,D505V,G1220A,G166V,H1559Y,H1647R,I1146S,I767T,I774V,L1217S,N112H,N1613S,Q1643E,R1645S,R1804K,R357G,R994T,S1500F,S1665P,T655S,V563A,V685A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84226 433 sw5889 CRBG3_HUMAN "N926H,R433H,Y761C" "0,0,0" 131544 2018 sw588;dbsnp11400 SIGL5_HUMAN;NP_003821.1 "D79E,F322S,G442D,I241N,K475Q,M215V,P499A,Q263R,R358W,T487P,V72A" "0,0,0,0,0,0,0,0,0,0,0" 8778 5820 sw5890;dbsnp8977 RNF43_HUMAN;NP_060233.3 "A148G,G754A,I47V,L418M,P192L,P231L,P569S,P686R,Q324K,R117H,R127Q,R221Q,R337Q,R343H,R529W,R531H,T685N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54894 3328 sw5891;sws715;spmut725 FRPD2_HUMAN T1021K 0 143162 1151 sw5892;dbsnp11534 ZN626_HUMAN;NP_001070143.1 "C464Y,E500K,H499Y,K171N,K180N,K417R,L52M,M65T,N31D,N68H,Q89E,R444K,R445I,S38G,S90N,T280M,T46A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199777 1203 sw5893;dbsnp11280 ZN772_HUMAN;NP_001019767.1 "C182W,E239D,E239K,E382K,G137V,M218L,R479C,T148I,V18I" "0,0,0,0,0,0,0,0,0" 400720 5214 sw5894;dbsnp11430 ZNF57_HUMAN;NP_775751.1 "A400P,D22Y,E35K,E365D,G187R,G510R,H103R,M497I,P292L,P419A,P419S,R230W,R297K,R324Q,R408Q,S56A,S56Y,T150M,T223N,T357M,T387M,T413M,T443M,V43I,Y308C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126295 4815 sw5895;dbsnp13723 LEMD1_HUMAN;NP_001185979.1 "G60A,I73T,P25S,R99C,R99H,V154M,V39I,W91G" "0,0,0,0,0,0,0,0" 93273 13341 sw5896;dbsnp735 DUPD1_HUMAN;NP_001003892.1 "A130T,D66N,E25K,M24T,R151H,R209C,S137R,V84M,V94A,Y63C" "0,0,0,0,0,0,0,0,0,0" 338599 12529 sw5897;dbsnp9333 KCD11_HUMAN;NP_001002914.1 "G22S,G81E,V94I" "0,0,0" 147040 12293 sw5899;dbsnp27669 CDCA2_HUMAN;NP_689775.2 "C235R,E903K,G163S,G569V,G650D,I114T,I606V,I877V,K284E,K754T,L265F,L513F,L525W,P43L,P784T,R106C,R110W,R640H,R640P,R721C,R884S,S713T,S955L,T177I,T50I,V463I,V62I,V717I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157313 2015 sw58;dbsnp8707 CQ102_HUMAN;NP_997337.2 "D3G,G98R,R155K,R54Q,R88G" "0,0,0,0,0" 400591 13587 sw5900;dbsnp322 C19L1_HUMAN;NP_060764.3 "C160Y,F146Y,G86E,N73S,P259L,R523H,R526Q" "0,0,0,0,0,0,0" 55280 6009 sw5901;dbsnp27770 VIR_HUMAN;NP_056311.2 "A1355T,A81T,E231Q,I753V,M1005V,M611V,P145L,P806S,R268Q,R780H,S1138L,S427C,S862F,T1732A,V1519L,V240G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25962 553 sw5902 CYTSA_HUMAN V951M 0 23384 1667 sw5903;dbsnp3755 CL073_HUMAN;NP_001129042.1 R45C 0 728568 14869 sw5904;dbsnp8680 K1C40_HUMAN;NP_872303.2 "C265Y,E286D,F85S,M303T,R235H,S102N,S406L,T153M,T37A,T388M,V213L,W390R" "0,0,0,0,0,0,0,0,0,0,0,0" 125115 7606 sw5905;dbsnp9268 K1C39_HUMAN;NP_998821.3 "C391S,E226K,E478K,E96K,G201S,G427A,I150T,I393F,L383M,Q57P,Q57R,R280C,R317H,R412C,R456Q,S423F,S86N,T341M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390792 6821 sw5907;dbsnp523 Z518A_HUMAN;NP_055618.2 "A410T,A555T,A744V,D126N,E146D,H812R,I1254F,I700V,K1015T,K123R,M978V,N946H,N946K,P1150R,P513T,Q1184H,R1142S,R1328Q,R339K,S549R,S612G,S714P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9849 854 sw5908;dbsnp9142 HEAT6_HUMAN;NP_071353.4 "A1121T,A71V,D625H,G260R,H1138Y,I484V,L1107P,M281V,M511T,M766I,M863I,N1180S,N208S,P15L,P200L,P808S,R1069Q,R420C,S1006L,S390C,S396N,S458P,V599I,V662L,V80F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63897 1478 sw5909;dbsnp18135 SL9A4_HUMAN;NP_001011552.2 "D63H,G116S,G142C,G664R,G784S,I351V,I581V,L17P,N665I,R640K,S585F,T619R,T673I,T731I,V7M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389015 3132 sw590;spmut2173;dbsnp16973 TMPS2_HUMAN;NP_005647.3 "A28T,D491N,E329Q,G74R,H18R,K449N,L91P,L91Q,P375S,P41L,S254C,T75I,V160M,V39G,V415I,V65I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7113 6159 sw5910;dbsnp11987 Z324B_HUMAN;NP_997278.2 "G281R,G75R,Q132R,R161Q,S63G,T516I" "0,0,0,0,0,0" 388569 5800 sw5911;dbsnp22049 WWC2_HUMAN;NP_079225.5 "A1089V,A1189T,A773S,D330G,D904H,I852V,L765S,L926I,M684I,N1084S,N845S,N845T,N945S,P954L,Q1131H,R1016K,R1082L,R450Q,R450W,R795Q,R979C,T420S,V361I,V816F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80014 1438 sw5912;dbsnp27623 SCAR3_HUMAN;NP_057324.2 "E347K,F467L,H120R,M325T,P551S,R130Q,R423Q,R450H,T199K,V428I,V473M,V55M,V69M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 51435 5064 sw5913;dbsnp1864 TRI68_HUMAN;NP_060543.5 "C442Y,L40F,N77S,P3S,R193Q,R457G,R457H,S274N,Y466C,Y466S" "0,0,0,0,0,0,0,0,0,0" 55128 6913 sw5914;dbsnp2045 KDM4D_HUMAN;NP_060509.2 "A371V,A471S,E357G,G452V,L497V,N262S,P429R,P457A,R408Q,S355R,S484L,S484W" "0,0,0,0,0,0,0,0,0,0,0,0" 55693 1727 sw5915;dbsnp611 MDSP_HUMAN;NP_001007272.1 "G122R,K73R" "0,0" 51207 11078 sw5916;dbsnp11807 IGFL4_HUMAN;NP_001002923.1 "K91E,L25P,R60Q" "0,0,0" 444882 14342 sw5917;dbsnp2359 NB5R2_HUMAN;NP_057313.2 "A201V,D148A,D231H,D231N,E15A,G226V,I9V,L163W,M152L,N209D,P19S,Q55H,R123C,R202K,T244M,V228L,V81M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51700 10056 sw5918;dbsnp3387 REP15_HUMAN;NP_001025045.1 "E206D,E57D,K80R,L9V,N101D" "0,0,0,0,0" 387849 12195 sw5919;dbsnp24916 URFB1_HUMAN;NP_060224.3 "A257T,E930Q,H821Y,I1362V,K404N,K854E,L579F,M1098T,M91R,P1189S,P1436T,P286L,Q454R,Q984H,R1380K,R827C,R847G,S376N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54887 917 sw591;dbsnp16916 NCAM2_HUMAN;NP_004531.2 "D347N,L350P,R137Q" "0,0,0" 4685 2982 sw5920;dbsnp18687 SP5_HUMAN;NP_001003845.1 "A75T,E360V,T74S" "0,0,0" 389058 8623 sw5921;dbsnp12004 ZN787_HUMAN;NP_001002836.2 "A234D,G379A" "0,0" 126208 8938 sw5923;spmut1561;dbsnp27981;dbsnp27983 PLAG1_HUMAN;NP_001108106.1;NP_002646.2 "K93M,P410S,P458T,T146A" "0,0,0,0" 5324 6662 sw5924;dbsnp9192 LEG9C_HUMAN;NP_001035167.2 "A8T,C6S,D48A,G5S,L312F,Q201R,Q206R,R272H,R333H,S12N,S165Y,T199M,V126M,V15I,V184M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 654346 9517 sw5925;dbsnp26314 PVRIG_HUMAN;NP_076975.2 "A258V,N81D,P162L,R195Q,R199C,R241C,R49Q,W77C" "0,0,0,0,0,0,0,0" 79037 10241 sw5926;dbsnp6924 MCTP2_HUMAN;NP_060819.3 "A60T,A695T,A877T,D839N,E180A,G179R,I825L,L847F,L864P,P191T,P602L,R340H,R343Q,R39Q,R39W,R47H,R66Q,R872Q,V548I,Y719C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55784 2724 sw5927;dbsnp23456 MCTP1_HUMAN;NP_078993.4 "N680K,R438G,R438K,R612K,S797I,Y794F,Y956H,Y991H" "0,0,0,0,0,0,0,0" 79772 2113 sw5928;spmut688;dbsnp14147 FCRL6_HUMAN;NP_001004310.2 "C434Y,D428N,E185K,E268G,G160D,H212Y,L146F,L262I,M102T,N280S,R123Q,R78H,S293F,S293P,S427G,S84T,T67I,V330L,V359M,Y371C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343413 7876 sw5929;dbsnp21009 IQEC1_HUMAN;NP_055684.3 "E26K,E369D,E408G,G50S,H376Y,I483M,I683V,P640S,P958L,R291H,R443K,R457Q,R80W,S319L,T283I,V882I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9922 848 sw592;dbsnp3472 IPO8_HUMAN;NP_006381.2 "A877D,A941V,C664R,E627Q,I640V,I6F,K591R,M113I,N953D,Q184P,Q874H,R1002Q,R181H,R879K,V241I,V499I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10526 1947 sw5930;sws716;dbsnp2021 MRCKG_HUMAN;NP_059995.2 "A1048T,A1491S,A537D,E170D,E170Q,G1185E,K467N,K586E,L211M,P168L,P380L,P724T,Q1103H,Q1135R,R1237W,R1306C,R313H,R444Q,R457Q,R488W,R647W,S955L,T1295I,T362P,T473M,V1078M,V201I,V340M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55561 776 sw5931;sws717 DMKN_HUMAN D427A 0 93099 7078 sw5932;dbsnp11600 ZN470_HUMAN;NP_001001668.3 "A525T,C567R,G589S,H587Y,I642T,K254R,K680E,P118L,R385L,R491W,S67C,T418I,V23L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 388566 2996 sw5933 GL1AD_HUMAN A127P 0 81488 5847 sw5934 SUMO4_HUMAN M55V 0 387082 14604 sw5935;dbsnp5542 TTLL5_HUMAN;NP_055887.3 "A1223S,A1251V,A149V,A164S,A164T,A328V,A592T,A877T,E203D,E586V,F1267S,G1132E,H1140R,K1214N,K275R,L879F,M31T,N633D,P1231T,P176S,R174Q,R409Q,R638C,R964Q,R989C,S1049G,S92G,S984C,T1142I,T144I,T338I,T958A,V1133G,V1268A,V224M,V443M,Y126S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23093 1202 sw5936;dbsnp7670 VASN_HUMAN;NP_612449.2 "E384A,G435A,G435S,G94E,P10L,P76L,R135H,R161Q,R216H,R297C,R366Q,T146M,V50L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 114990 4340 sw5937;dbsnp26125 SFRP4_HUMAN;NP_003005.2 "A8P,C69G,F2V,I29M,M1T,P316Q,P320T,R340K,T189M" "0,0,0,0,0,0,0,0,0" 6424 9765 sw5938;dbsnp7903 CPIN1_HUMAN;NP_064709.2 "A34E,G292R,Q52E" "0,0,0" 57019 10611 sw593;dbsnp9133;dbsnp9134 MOT7_HUMAN;NP_004685.2;NP_001167637.1 "E217D,E221V,F204I,F394Y,G89R,H481R,I121T,I431M,P261L,P274H,Q112K,R328H,R328S,R87C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9120 6233 sw5940;dbsnp8982 XAF1_HUMAN;NP_059993.2 "C105F,C153R,E188K,E85G,G139R,M123T,N77S,R108Q,R132H,R219I,R287Q,S69Y" "0,0,0,0,0,0,0,0,0,0,0,0" 54739 10832 sw5941;dbsnp18507 IPIL1_HUMAN;NP_001008949.1 "A65T,E145K,E415Q,G280R,G88R,H521D,I504N,K336E,L478P,M92I,R202Q,R206H,R260C,R357C,R360C,R441H,R459Q,R53C,S428C,T463M,V370L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150771 5642 sw5942;dbsnp7269 CTRB2_HUMAN;NP_001020371.3 "A250T,L6V,W5L" "0,0,0" 440387 11599 sw5943;dbsnp13313 P20D1_HUMAN;NP_689704.4 "A198T,A332V,D158N,E218K,E78D,G31R,G346R,H33Y,H84R,I149V,I174F,I237T,I380T,M248T,P281Q,R153W,R29G,S258C,V138E,V416I,V419I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148811 6617 sw5944;spmut1095;dbsnp11559 LAIR1_HUMAN;NP_002278.1 "A33V,A77G,D215N,E63D,M1V,P127R,P140L,P3L,P98L,R188S,S30Y,S92R,T250M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3903 11156 sw5945;dbsnp1800 TM225_HUMAN;NP_001013765.1 "C196R,E189K,I137T,M1V,M26V,N134S,Q10P,R201H,R219H,V148I" "0,0,0,0,0,0,0,0,0,0" 338661 12437 sw5947;dbsnp24995 RET1G_HUMAN;NP_001001788.2 "D144N,D305N,H268Q,M1T,R223K,S68N,T214A,T70R" "0,0,0,0,0,0,0,0" 353091 10037 sw5948;dbsnp5733 ISM2_HUMAN;NP_954993.1 "A94T,C410Y,E267D,E327K,G266E,G314R,K387E,K58R,L146Q,N232D,P133A,P137L,P185R,P234L,P96R,R477C,S223L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 145501 5531 sw5949;dbsnp18093 ASTL_HUMAN;NP_001002036.3 "A169V,E319K,I79F,K277Q,N266K,Q222R,R159H,R204C,R204H,R245W,R291K,V187A,W346L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 431705 7927 sw5950;dbsnp2033;dbsnp2034;dbsnp2035 SIGIR_HUMAN;NP_068577.2;NP_001128526.1;NP_001128525.1 "G391R,G59A,H371N,P115R,Q304P,Q312R,S107F,S80Y,S81T" "0,0,0,0,0,0,0,0,0" 59307 8379 sw5951;spmut1313;dbsnp1923 NADE_HUMAN;NP_060631.2 "A573T,A8T,D342N,G704S,M591I,P297L,Q204H,R279W,R381W,R638Q,T393A,T414S,V380M,V454I,V74L,V86M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55191 4028 sw5952;dbsnp10270 ELP2_HUMAN;NP_060725.1 H806P 0 55250 2657 sw5953;dbsnp3161 LTOR1_HUMAN;NP_060377.1 "E37K,P25S,S73L" "0,0,0" 55004 13695 sw5954;dbsnp1532 GLYAT_HUMAN;NP_964011.2 "M272T,M2I,M65T,N156S,N85K,N85T,P216T,R131H,S17T,V217L" "0,0,0,0,0,0,0,0,0,0" 10249 10954 sw5955;sws719;dbsnp21042 TWF2_HUMAN;NP_009215.1 "A179V,Q156K,Q76R,R21W,R72C" "0,0,0,0,0" 11344 9503 sw5956;dbsnp17603 CV042_HUMAN;NP_001010859.1 "A110V,A81D,E217K,K220N,L73P,M120I,P70L,R82H,R85H,T152M,T69M,V139E,V141A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 150297 11886 sw5957;dbsnp17594 GRAM4_HUMAN;NP_055939.1 "G175R,S159I,S44L,T216I,V40L" "0,0,0,0,0" 23151 5443 sw5958;spmut1904;dbsnp17449 SESQ2_HUMAN;NP_001002034.2 "A167V,A188G,D257E,R97C,V236M" "0,0,0,0,0" 150368 11718 sw5959;dbsnp17300 WBP2L_HUMAN;NP_689826.2 "A254T,C170F,D121G,F140C,G272R,L128V,P207T,Q285H,Q5E,S150R,T247A" "0,0,0,0,0,0,0,0,0,0,0" 164684 10665 sw5960;dbsnp17747 ASPH2_HUMAN;NP_065170.2 "F229V,H332N,N235S" "0,0,0" 57168 9218 sw5961;dbsnp17698 CV025_HUMAN;NP_690870.3 "A17T,A225T,D125N,D211H,D245E,E200K,E210K,R140Q" "0,0,0,0,0,0,0,0" 128989 11345 sw5962 OVOS2_HUMAN "L587V,S789L,T211M,V1328A" "0,0,0,0" 144203 934 sw5963;dbsnp22136 JADE1_HUMAN;NP_955352.1 "A769V,E104D,L403R,N386S,N662S,R345G,R641H" "0,0,0,0,0,0,0" 79960 2942 sw5964 SN12L_HUMAN "C462Y,L307S" "0,0" 100506736 4910 sw5965;dbsnp24857 SNR48_HUMAN;NP_689764.3 "E291G,E9A,G3D,N63S,P45L,R281Q" "0,0,0,0,0,0" 154007 9924 sw5966;dbsnp2014 OR5MA_HUMAN;NP_001004741.1 "A223S,I273M,I305T,I313T,T206N,V147M,V69L" "0,0,0,0,0,0,0" 390167 10525 sw5967;dbsnp1398 OR4CB_HUMAN;NP_001004700.2 "A237T,F254V,F59L,G35R,L15I,L53Q,M192T,P165S,P169H,P19R,P8T,R120C,R120H,R129H,R258C,R51Q,R51W,S240T,S85P,T277P,T73N,V271I,V292E,W147S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219429 9203 sw5968;dbsnp26320 OR2A2_HUMAN;NP_001005480.2 "F280L,L104F,L210P,M310T,Q5K,Q87K,V260D" "0,0,0,0,0,0,0" 442361 10436 sw5969;dbsnp1369 O52W1_HUMAN;NP_001005178.1 "A69P,H239P,H239R,L254Q,L87P,M123V,P51L,R308Q,T266A,T302S,Y264C" "0,0,0,0,0,0,0,0,0,0,0" 120787 10392 sw596;dbsnp26383 TNC18_HUMAN;NP_001073964.2 "A1193G,A1242T,A1267G,A998T,D2910E,E1404D,E1740Q,G1685A,G1844D,G2029V,G2874D,G821S,N1596T,N1676D,P2358R,P2393L,P2393Q,P2393R,P2424A,S1814I,S1827L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84629 151 sw5970;dbsnp2197 O4A47_HUMAN;NP_001005512.2 "A192D,A234V,G14D,G39R,G54D,G82D,I104L,L211F,L226F,L25I,L31F,M255I,N200S,Q232R,S236P,T237N,V141L,V145M,V47I,Y58S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403253 9203 sw5971;dbsnp14658 O10K2_HUMAN;NP_001004476.1 "A116S,A182V,A208T,D180N,F28S,G143V,G253S,G96V,L222F,L39R,M288I,N265S,P210R,R122C,S19F,S93P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391107 10021 sw5972;dbsnp18910 OR6B2_HUMAN;NP_001005853.1 "C179R,E4K,L223P,Q268L,R122C,R227C,R261Q,S217P,T279A" "0,0,0,0,0,0,0,0,0" 389090 10111 sw5973;dbsnp11370 O7E24_HUMAN;NP_001073404.1 "I64V,P242S,S193F" "0,0,0" 26648 9806 sw5974 ST6B1_HUMAN E167V 0 391365 10793 sw5975;dbsnp18414 ST1C3_HUMAN;NP_001008743.1 "A88T,C144R,E203K,G179R,I4T,M194T,M62T,R301H,S109P,T247I,Y136N,Y148C,Y202H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 442038 10725 sw5976;dbsnp3763 CAPR2_HUMAN;NP_001002259.1 "K237R,K466N,M334T,M519V,P114S,P610R,Q365K,Q779K,R215Q,R373H,S109N,S655L,S71L,S937L,T650A,V989I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65981 1634 sw5977;dbsnp9765 MRM1_HUMAN;NP_079140.2 "A134V,C120S,F168L,P98S,S305N" "0,0,0,0,0" 79922 9585 sw5978;dbsnp26065 IQCE_HUMAN;NP_689771.3 "A546V,A552G,H101N,L666V,P686L,R317H,R383L,R383Q,R511C,R587H,R635K,R71Q,S234R,T596A,T690M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23288 4119 sw5979;dbsnp13331 TYW3_HUMAN;NP_612476.1 "E32A,M121V,R110Q,R198G,S155R" "0,0,0,0,0" 127253 11719 sw597;dbsnp28652;hgmd0613_836 COPT1_HUMAN;NP_001850.1 P25A 0 1317 13162 sw5981;dbsnp13181 NB5R5_HUMAN;NP_001026842.2 "D10N,E223Q,G110S,R19P,R19Q,R236H,R241C,R47K,T308A" "0,0,0,0,0,0,0,0,0" 606495 10526 sw5982;dbsnp19300 SPOPL_HUMAN;NP_001001664.1 "D349N,K31N,R45Q,S236N" "0,0,0,0" 339745 8750 sw5983;dbsnp14211 CCSAP_HUMAN;NP_660300.3 "A123V,A166T,A238P,K168N,S173P" "0,0,0,0,0" 126731 11482 sw5984;spmut1317;dbsnp26333;dbsnp26334 NAPEP_HUMAN;NP_001116310.1;NP_945341.3 "G299A,L378V,M340V,R153H,R167H,V137M" "0,0,0,0,0,0" 222236 8725 sw5985;dbsnp1381 PKHA7_HUMAN;NP_778228.3 "A248V,L1077Q,L241I,N431S,N776D,P116L,Q279R,R1060C,R227H,R315W,S563T,S689R,T236R,V693I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144100 1652 sw5986;dbsnp1574 DEN5A_HUMAN;NP_056028.2 "A110T,D497H,E224Q,F1218L,G267R,I952V,K477E,K485E,N277S,R1078Q,R48K,R602Q,S445L,V222M,V247I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23258 1190 sw5987 CA055_HUMAN M312I 0 163859 7576 sw5988;sws720;dbsnp6739 TTBK2_HUMAN;NP_775771.3 "A649S,F711L,H1175R,K1241T,L8P,P1122R,P760S,R120Q,R500P,T1062I,T1084M,T313A,V1097A,V440M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146057 1298 sw5989;dbsnp27621 GRHL2_HUMAN;NP_079191.2 "K9I,K9R,R183Q,S101R,S230N,V152M,V415I,V591A" "0,0,0,0,0,0,0,0" 79977 4846 sw598;dbsnp8726 MRP3_HUMAN;NP_003777.2 "A1270E,A1513D,A528G,A86V,E258K,E285K,E408G,G11D,G1423R,G811S,H68Y,K1344E,L1352F,L548Q,L69V,M904I,N1092S,N1092T,P1300L,P1412T,P920S,Q1365R,Q436K,R1166C,R1286G,R1292Q,R1297H,R1324H,R1348C,R1381S,R1445H,R1483Q,R153H,R291W,R419H,R905K,R923Q,R99Q,S1003G,S314I,S314T,S346F,S607N,T1470A,T809M,V145A,V765L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8714 791 sw5990;dbsnp10789 LAIR2_HUMAN;NP_002279.2 "E23A,F115Y,G78S,G97R,H112Q,H87R,P130L,P130Q,S123T,S40P" "0,0,0,0,0,0,0,0,0,0" 3904 11156 sw5991;dbsnp25121 PTCRA_HUMAN;NP_612153.2 "A183T,A281T,C252R,H116Q,H124L,R187C,R189Q,S238F,V106I,Y76C" "0,0,0,0,0,0,0,0,0,0" 171558 10966 sw5992;dbsnp26465 ZN425_HUMAN;NP_001001661.1 "A529T,D166V,D204N,E446A,F451C,F535L,F563L,G644R,K281T,K589E,M642T,P273A,Q331R,R210Q,R210W,S750P,T598I,W453R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 155054 3592 sw5993;dbsnp18537 ANO7_HUMAN;NP_001001891.2 "A174T,A22E,A360V,A470T,A494V,A632V,A759T,C397Y,D156E,D70N,E194D,E226K,E392K,E43K,E630Q,E912K,F250Y,G242R,I740L,R108Q,R108W,R149H,R187H,R239H,R465W,R522H,R578C,R741H,R79S,V160I,V435E,V435M,V604I,V67I,Y440N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50636 2415 sw5994;dbsnp3636 NCKX6_HUMAN;NP_079235.2 "I36V,L246V,L358F,L401M,L460F,P93S,R222C,R445W,V529I" "0,0,0,0,0,0,0,0,0" 80024 5349 sw5995;sws721;dbsnp3882 STYK1_HUMAN;NP_060893.2 "D388G,E89K,L237S,P68S,R110W,R210W,R379H,R71G,S204G,V330F,V400L" "0,0,0,0,0,0,0,0,0,0,0" 55359 8105 sw5996;dbsnp14932 CPZIP_HUMAN;NP_443094.3 "A344V,E316D,G367V,K41E,P141S,P282L,P56A,P56H,P5S,Q384R,Q412R,R241K" "0,0,0,0,0,0,0,0,0,0,0,0" 92241 8254 sw5998;dbsnp4416 K2C80_HUMAN;NP_872313.2 "A261T,I175T,I299M,I55V,Q230E,R114H,R144C,R150Q,R364S,S176F,S297R,S445L,S448L,V238I,Y132C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144501 7553 sw599;dbsnp5008 MRP4_HUMAN;NP_005836.2 "A227G,C171G,E500K,E757K,E936Q,F877S,G187W,G487E,I1085M,I625M,I866V,K293E,K304N,K498E,K827R,L18I,M184K,M184T,M744V,P403L,P667L,P78A,Q1314L,Q1314R,R1220Q,R531Q,R820I,T1142M,T1142R,T145M,T356M,V1071F,V1071I,V1071L,V1228M,V381I,V776I,V854F,V860M,V900L,Y556C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10257 1115 sw59;dbsnp27354 DEND3_HUMAN;NP_055772.2 "A1165V,A416V,D626E,G997R,H466Q,K17E,K353N,L708V,M1012V,P1111L,P1116S,P606T,Q364R,R1138Q,R347W,R99Q,S143N,S963L,V37M,V827I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22898 1424 sw5;dbsnp21767 TM129_HUMAN;NP_001120738.1 "L83I,R241Q,T147S,T192M,T192R,T231A,V101M,V207M,Y112F,Y112N" "0,0,0,0,0,0,0,0,0,0" 92305 9353 sw6001;dbsnp2816 KRA56_HUMAN;NP_001012416.1 "C120G,C6F,C80F" "0,0,0" 440023 11311 sw6002;dbsnp2210 KRA53_HUMAN;NP_001012726.1 "C21Y,C73S,G106C,G27S,G76V,K191N,S198G,S223F,S83C,Y28C" "0,0,0,0,0,0,0,0,0,0" 387266 11311 sw6003;dbsnp20341 PDE12_HUMAN;NP_808881.3 "A424T,D144E,D305E,R23W,V117A" "0,0,0,0,0" 201626 5028 sw6004;dbsnp3654 B4GN3_HUMAN;NP_775864.3 "A192T,A595V,A967V,E441D,E600G,G59S,G752V,G887A,H536Y,I506V,K351Q,K411R,L282F,M836T,P818T,Q362R,Q481H,Q564E,R119W,R121C,R265Q,R342C,R476Q,R493Q,R641Q,R641W,R693H,R705C,R721H,R724W,R768Q,R857H,R950Q,R992H,R993H,S210I,S491P,V787M,V823I,V971M,W61C,Y435H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283358 2118 sw6005;dbsnp1803 HPHL1_HUMAN;NP_001092142.1 "A508V,D920E,E1022K,F15S,H604R,L1137F,N251D,R219W,R381C,R432Q,T175I,V47A,Y37N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 341208 1389 sw6006;dbsnp21857 CD040_HUMAN;NP_999876.2 "A175G,E161G,E171G,G165A,I44L,I44V,N100S,P195A,R116S,R54S,R91C,T68A,V186A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 401137 12547 sw6008;dbsnp1371;dbsnp1372 PRR5L_HUMAN;NP_001153639.1;NP_079117.3 "A316D,A41T,D344N,F108C,H14R,I342V,I93V,P330S,R334W,R3H,T139A,V11I" "0,0,0,0,0,0,0,0,0,0,0,0" 79899 9232 sw6009;dbsnp23094 R7BP_HUMAN;NP_001025046.1 "I255V,R17S" "0,0" 401190 11764 sw600;dbsnp11034 CCL25_HUMAN;NP_005615.2 "H101R,R45H,R50W,T104M,T23A" "0,0,0,0,0" 6370 13917 sw6010;dbsnp23422 FSTL4_HUMAN;NP_055897.1 "D459N,E353D,G580V,H273P,L603F,L652V,N191S,N394S,P709S,P784L,R158H,R176C,R587C,R699H,R699L,R824W,S396N,S401T,T757M,V464I,W788C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23105 2917 sw6011;dbsnp18052 CAN13_HUMAN;NP_653176.2 "A219G,A280T,F506L,H249Y,I596T,Q349K" "0,0,0,0,0,0" 92291 4381 sw6012;sws723;dbsnp21976 TET2_HUMAN;NP_001120680.1 "A308T,A912G,C1396W,D1242R,D1242V,E1073V,E1318G,F1287L,F868L,G1869W,G355D,G429R,H1778R,H1817N,H8D,H924R,H949R,I1175V,I1762V,K1299E,K1299N,L1721W,L1872P,L34F,M1595V,M1701I,N767D,P1367S,P1723S,P174H,P1962L,P29R,P363L,P399L,Q1084P,Q810R,R1167T,R123H,R1261L,R1302G,R2000K,R571H,S1767N,S817T,V1900A,V218M,Y867H" "1,0,1,0,1,0,1,1,0,1,0,0,0,0,0,0,0,1,0,1,1,0,1,0,0,0,0,1,0,0,1,0,0,1,0,0,1,0,1,1,0,0,0,1,0,0,0" 54790 424 sw6013;dbsnp1417 TEN4_HUMAN;NP_001092286.2 "A229T,E506Q,E975K,G2577C,I458V,L368V,L484H,N649K,N965S,P485S,P935R,R14Q,R2638Q,R2697T,R320C,S1939R,S509N,T580P,T930I,V2614M,V396I,V438L,Y2108C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26011 180 sw6014;dbsnp6847 Z280D_HUMAN;NP_060131.2 "A778V,G785A,G914V,K781I,M707V,P533L,Q895R,S52G,S603N,V186G,V568I,V845I" "0,0,0,0,0,0,0,0,0,0,0,0" 54816 2188 sw6015;dbsnp5176 NAA16_HUMAN;NP_078837.3 "A786P,D112G,E344G,L453V,M51I,Q207E,S38L" "0,0,0,0,0,0,0" 79612 2805 sw6016;spmut87;dbsnp4324;dbsnp4325;dbsnp4326 ALKB2_HUMAN;NP_001138846.1;NP_001138847.1;NP_001001655.1 "A212V,I141V,P229A,P41L,R203H,T128M,V244I" "0,0,0,0,0,0,0" 121642 11675 sw6017 AR26L_HUMAN K265T 0 - 10368 sw6018;dbsnp29968 CX057_HUMAN;NP_060485.4 "G649V,I593M,L458H,R700H,R804Q,T229S,V153A" "0,0,0,0,0,0,0" 55086 2863 sw6019;dbsnp28368 K1161_HUMAN;NP_065753.2 "D53E,F385Y,M176I,M355R,N4I,P551S,Q109P,R199S" "0,0,0,0,0,0,0,0" 57462 3928 sw601;dbsnp10973 RPA34_HUMAN;NP_036231.1 "A372V,D394N,E225K,E319K,E353D,F12L,K174N,K259T,K373E,K503Q,P137S,P229S,P38S,Q504K,R77Q,T282A,T296M,T344M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10849 6464 sw6020;dbsnp11474 PHLB3_HUMAN;NP_942147.3 "A465V,E244D,G103R,P17L,P506Q,Q239R,R173C,R187W,R252W,S418Y" "0,0,0,0,0,0,0,0,0,0" 653583 4694 sw6021;dbsnp11265 LRC8E_HUMAN;NP_079337.2 "D484E,E181G,E181K,E390K,E401K,E716K,H513R,I38T,L760V,M190T,M37I,P160L,P404S,P454R,R242H,R490H,R618C,R630Q,R790Q,T259M,V359I,V433I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80131 3240 sw6022;dbsnp4954 CCD70_HUMAN;NP_112580.2 "A134S,A233V,A50P,I206V,R126C,R126H,R27W,R37C,R73Q,R7Q,V17L" "0,0,0,0,0,0,0,0,0,0,0" 83446 12273 sw6023;dbsnp26523 ZN498_HUMAN;NP_660090.2 "H105R,P199S,P325A,R103W,R96C,T340I" "0,0,0,0,0,0" 221785 5925 sw6024;dbsnp25031 S18B1_HUMAN;NP_439896.1 "F90S,G274V,I410M,I71N,P223L,R11L,S30P,S381N,V204I" "0,0,0,0,0,0,0,0,0" 116843 7466 sw6027 TRNP1_HUMAN W27R 0 388610 12387 sw6028;dbsnp22895 CE045_HUMAN;NP_057259.2 "A174T,D253N,E121K,Q231R,Q264E,Q42R,Q97R,R154G,S48A,V165M" "0,0,0,0,0,0,0,0,0,0" 51149 9833 sw6029;spmut25;dbsnp17327 ABC3H_HUMAN;NP_001159475.1 "E178D,F107L,G105R,K121E,K121N,K140E,M66V,R171G,R18H,R18L,T35M" "0,0,0,0,0,0,0,0,0,0,0" 164668 12957 sw6030;dbsnp27281 RHBD2_HUMAN;NP_001035546.1 "A324V,R85H" "0,0" 57414 9319 sw6031;dbsnp8996 C144L_HUMAN;NP_001004306.1 "A101V,C193Y,D111N,D39G,D70N,E33G,E61K,E83K,G13E,G30R,G82D,H176R,H202Q,K17R,K211R,L47S,L72P,N56K,P189L,P18L,R110K,R9Q,S217Y,T155M,T160P,T179N,V20I,V58I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339184 944 sw6032;dbsnp17660 CHADL_HUMAN;NP_612490.1 "D721N,E365K,N120S,P685L,Q710R,R696L" "0,0,0,0,0,0" 150356 3502 sw6033;dbsnp22040 SAPL1_HUMAN;NP_001078851.1 "A268S,A374E,A41S,A517T,A521V,A59T,A73T,A82V,D236N,G169R,G44R,P99S,R123H,V296M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 768239 6280 sw6034;dbsnp644 PWP2B_HUMAN;NP_612508.3 "E95K,G205D,P286L,P368S,P86R,R213C,R362Q,R459G,R524Q,R89C,R98G" "0,0,0,0,0,0,0,0,0,0,0" 170394 5267 sw6035;dbsnp667 REEP3_HUMAN;NP_001001330.1 Q171R 0 221035 11776 sw6036;dbsnp18763 RETST_HUMAN;NP_060220.3 "A432V,A476G,A533V,A586T,G226E,G384S,G536R,G579S,N367K,P559T,P65L,R133H,R369C,R395Q,R457Q,R604W,S584N,V218M,V343M,V424I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54884 5023 sw6037;dbsnp7742 ACSM5_HUMAN;NP_060358.2 "A395V,A420V,C135Y,D177N,D400N,D449G,D455E,D462E,D472N,E182K,G235R,H23R,H360R,K25Q,K386T,L282F,M217V,P126L,P144L,P237A,P237T,P352R,P352S,P74R,Q159H,Q336P,R124W,R137P,R137W,R325Q,R341K,R65Q,R72H,S264F,S339G,T308N,T533M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54988 5321 sw6038;dbsnp2641 CK063_HUMAN;NP_079082.2 "D561H,D654E,G661R,H18P,H472L,H486R,I667T,I757L,R428G,T741S,Y164C" "0,0,0,0,0,0,0,0,0,0,0" 79864 3379 sw6039;dbsnp26573 RINT1_HUMAN;NP_068749.3 "A130T,A138V,F668S,H126Y,H613Y,L341V,L439F,L660I,M342T,P759L,R256G,S40C,T785P,Y178H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60561 3271 sw6040;dbsnp18245 TM214_HUMAN;NP_060197.4 "E426Q,V351M" "0,0" 54867 4174 sw6041;dbsnp23424 UD3A1_HUMAN;NP_689617.3 "C121G,D196Y,D418N,N250Y,N405H,R259W,R364H,R411W" "0,0,0,0,0,0,0,0" 133688 6234 sw6042;dbsnp4066;hgmd0613_2398 D19L2_HUMAN;NP_776173.3 "A41V,I524F,I590F,L99R,M37V,N175H,N725H,P164S,P241L,P489L,P81L,R10W,R132C,R290H,R455L,S17I,S51A,S750I,S750N,V232I,V757I" "0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 283417 3536 sw6043;dbsnp11368 MFS12_HUMAN;NP_778148.2 "A84T,G395S,I203V,R243H,R476C,Y182H" "0,0,0,0,0,0" 126321 6022 sw6044 CB055_HUMAN S315C 0 343990 2275 sw6045;dbsnp14699 GP153_HUMAN;NP_997253.2 "A194T,A222T,A299V,D208N,D75N,G347D,G368R,I334V,R209H,R226Q,R227H,R342H,R73H,V201M,V402M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 387509 5029 sw6046;spmut2081;dbsnp10851 SWAP1_HUMAN;NP_787067.2 "D171G,G15V,L10V,L118I,L45F,M48V" "0,0,0,0,0,0" 126074 12338 sw6047;dbsnp26627 UFSP1_HUMAN;NP_001015072.2 "D120A,G64E,G64V,L47V" "0,0,0,0" 402682 14049 sw6048;dbsnp22290 NIPA3_HUMAN;NP_997213.1 "A97T,I324V,N381S,P274L,P43T,T403A,V376I" "0,0,0,0,0,0,0" 152519 7276 sw6049 CV040_HUMAN "L70R,V5A" "0,0" 150383 14354 sw604;dbsnp14196 MSH4_HUMAN;NP_002431.2 "A148V,A60V,A90T,A97T,E162K,E840D,I355V,I494V,K753N,L35I,N180K,N94D,S914N,T410M,T865A,Y589C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4438 2402 sw6051;dbsnp22207 RWDD4_HUMAN;NP_689895.2 I124L 0 201965 13205 sw6052;dbsnp20412 CC017_HUMAN;NP_056227.2 "A390T,D59G,E101K,E133K,F357I,I424V,N317S,P31S,P352S,R477W,S344Y,S490P,T476A,V291M,V297I,V49I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25871 5584 sw6053;dbsnp6636 ZN774_HUMAN;NP_001004309.2 "E176K,I182T,I307V,N83H,N83S,P322L,P65L,R469C,S40T,T86I,V147I,Y165C" "0,0,0,0,0,0,0,0,0,0,0,0" 342132 6947 sw6054;dbsnp10834 ZN544_HUMAN;NP_055295.2 "C223S,D577N,D97V,G386V,G656D,G656R,H203D,H678Y,I245T,L171S,N523K,P117T,Q315H,Q700R,R456I,R540Q,R558T,R698W,R708W,T180A,T46I,T485M,T599N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27300 3915 sw6055;dbsnp28070 ESRP1_HUMAN;NP_060167.2 "A159T,L129F,R582Q,S404R,Y196C" "0,0,0,0,0" 54845 3813 sw6056;dbsnp20562 CC025_HUMAN;NP_997190.1 "A223T,E66G,F205L,G378R,G461V,H280R,L409M,L511P,L529P,P36L,P541S,Q178P,R197H,R215G,R338C,R338H,R340W,R487M,R57Q,R58G,R64H,S110L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90288 5525 sw6057;dbsnp26076 F71F2_HUMAN;NP_001012457.3 "D114V,I251V,I4M,P112T,R136W,S87P,T182I,V70G,W67R" "0,0,0,0,0,0,0,0,0" 346653 9812 sw6058;dbsnp11901 IIGP5_HUMAN;NP_062558.1 "D135N,D459H,E337D,G324D,G375S,G445S,L126V,V276I,V338I,V417M" "0,0,0,0,0,0,0,0,0,0" 56269 7344 sw6059;dbsnp27561;dbsnp27562;hgmd0613_663 TTI2_HUMAN;NP_001095871.1;NP_079391.2 "A503T,C484Y,E63G,G397E,K495R,L425R,N46S,P40S,R344Q,R344W,R355C,R43Q" "0,0,0,0,0,0,0,0,0,0,0,0" 80185 6503 sw605;dbsnp29830 MAGB2_HUMAN;NP_002355.2 "E167Q,E61K,G318R,N26S,R16L,T103A,Y124H" "0,0,0,0,0,0,0" 4113 9734 sw6060;dbsnp3883 H3C_HUMAN;NP_001013721.2 "A111V,C34Y,G13S,H39P,H39R,K122E,P66H,R129Q" "0,0,0,0,0,0,0,0" 440093 14150 sw6061;dbsnp22312 TAPT1_HUMAN;NP_699196.2 "E465K,G166C,N522S,S549P" "0,0,0,0" 202018 5585 sw6063;spmut1608;dbsnp24703;dbsnp24704 PPR18_HUMAN;NP_001128342.1;NP_597728.1 "A408T,D321G,G277V,G339R,P289S,P318L,P356L,R130W,R222G,R601C,R601P,V219L" "0,0,0,0,0,0,0,0,0,0,0,0" 170954 4990 sw6066;dbsnp19442 MZT2B_HUMAN;NP_079305.2 "A118V,A122V,R155Q,S112G,T154A" "0,0,0,0,0" 80097 13764 sw6067;sws724;dbsnp9703 PTRF_HUMAN;NP_036364.2 "E193Q,K243N,S56R,V119D,V153F,Y308C" "0,0,0,0,0,0" 284119 8796 sw6068;dbsnp3495 ZCHC8_HUMAN;NP_060082.2 "A276T,A593S,M663V,P672A,S658R" "0,0,0,0,0" 55596 4010 sw6069 CH074_HUMAN "I222V,L15F" "0,0" 203076 11002 sw606;dbsnp29737 MAGB3_HUMAN;NP_002356.2 "A218V,I112T,R107H,R15C,R3Q,S106P,S54P,V288I,V75I,W306C" "0,0,0,0,0,0,0,0,0,0" 4114 9734 sw6071;dbsnp21075 RUSD3_HUMAN;NP_775930.2 "A173P,A181P,D34H,H315Y,Q126R,R132Q,R224H,R23G,R267C,R349C" "0,0,0,0,0,0,0,0,0,0" 285367 9625 sw6072;dbsnp20258 ADCL2_HUMAN;NP_997248.2 "A186S,A186V,H111D,L168F,L260F,L343I,L387I,R54H,Y109C" "0,0,0,0,0,0,0,0,0" 344752 8562 sw6074;dbsnp5558 M18BP_HUMAN;NP_060823.3 "A212S,A212T,C164R,D195N,D27N,D529G,D565V,E286D,E540A,E583D,E851Q,G847V,H986L,K113R,K248E,K534R,N282T,N669I,N795D,P333L,P347R,Q208E,R355Q,R510Q,S729P,S894P,T310A,T330I,T559A,V42I,V567I,V621I,Y1124H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55320 1621 sw6075;sws725;dbsnp13253 MAST2_HUMAN;NP_055927.2 "A1463T,D1221E,D1551G,D388E,G1468A,G1703E,I659M,K1197R,K1673R,L1637F,L300H,L69F,P1525S,R1246L,R222H,R873H,R991L,T1608I,T328P,V1282L,V1304M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23139 563 sw6076;dbsnp18879 DHX57_HUMAN;NP_945314.1 "A1014P,E1184A,F1097L,G1153R,G35E,G49S,H430Y,I264T,I274V,I553V,I687T,K256E,M245V,N587S,P1027T,P140T,P589A,Q1018R,R1023Q,R27K,R612H,R71K,S410F,S433G,S465F,S82G,T1368M,V491A,V662I,V717I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90957 1005 sw6077;dbsnp23363;dbsnp23364 ERAP2_HUMAN;NP_001123612.1;NP_071745.1 "A120P,A861V,C421Y,D114Y,D682H,E146K,F38L,G661V,G743D,H634R,I588F,K392N,L411R,L669Q,L837S,L952P,N85S,P214L,Q295L,Q65E,Q912R,R205H,R751C,S289A,T347M,V239A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64167 2285 sw6078;dbsnp3639 MBOA5_HUMAN;NP_005759.4 "F63L,I111V,I217T,I349T,M107T,R105Q,V114I,V477M" "0,0,0,0,0,0,0,0" 10162 6886 sw6079;dbsnp18413 PLB1_HUMAN;NP_694566.4 "A1318V,A650T,A987V,D295V,D377N,D861N,E1045K,E1198G,E1221A,E1345D,E1414K,F467L,G1131R,G1262D,G821R,G859D,H879D,K92R,M708V,M828T,N809S,N812I,N870S,N904Y,P1323T,P236T,P527A,Q1326H,Q146E,Q483H,Q698H,Q982K,R1052W,R1111Q,R1372H,R1445Q,R1445W,R269G,R547Q,R574G,R882C,R882H,R909W,R952W,S68F,T1375A,T245A,T680M,T811M,V1420I,V149L,V212I,V212L,V414I,V559I,V900M,W164C,Y285C,Y340C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151056 890 sw607;sws61;spmut778;dbsnp29818 GLYG2_HUMAN;NP_003909.2 "A270V,A321V,D89N,G160R,H313R,H7Y,I411T,I481M,P398T,Q457R,R373C,S456P,T226M,V298I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8908 6630 sw6081;dbsnp13244 PMF1_HUMAN;NP_009152.2 "A103V,M137I,Q75R,R149Q,R149W,R150C" "0,0,0,0,0,0" 11243 12538 sw6082;dbsnp16403 ZN343_HUMAN;NP_077301.4 "H571L,I285M,L129F,N208S,P260L,P520L,P548L,Q512R,R499G,R560G,R560W,T451A,T458M,T486I,T514M,V210M,Y5H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79175 2645 sw6084;spmut1093;dbsnp8852 L2GL2_HUMAN;NP_001026973.1 "A1019G,A173T,A589T,A681T,A744T,F479L,F918L,G1001S,G1011A,G679R,G860R,L490P,M67V,P42L,P488L,P639S,P751L,P759S,P790L,Q482R,Q544H,R1004C,R162H,R18Q,R458W,R45H,R572H,R698C,R748H,R754Q,R892W,R944C,S171L,S727F,S746F,T26M,T77M,V223M,V259M,V814I,V902I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3993 1845 sw6085;dbsnp11478 C2D1A_HUMAN;NP_060191.3 "A189V,A814S,A906S,A906T,G676V,G781A,G781E,G781V,I412V,I545T,P844S,P84L,R302Q,R584Q,S327L,T339P,T580I,T635S,T801M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54862 2333 sw6086;dbsnp3282 LTMD1_HUMAN;NP_056231.3 "D231G,G296D,L139F,L180S,R223H,R323Q,V24I,V84I" "0,0,0,0,0,0,0,0" 25875 9144 sw6087;dbsnp26074 MET2B_HUMAN;NP_060866.2 "C124R,D239N,E169K,I136L,L25M,N129H,R302Q,T332M,V266I,V315M,V68I" "0,0,0,0,0,0,0,0,0,0,0" 55798 8451 sw6089;dbsnp13407 CA094_HUMAN;NP_001128206.1 "A213D,A326D,D302E,G574V,G581R,K437R,L111F,L394F,M510T,N441I,N463S,P192L,P382L,P409L,Q235E,R555Q,Y438H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84970 5157 sw608;spmut1755;dbsnp13354 RGS16_HUMAN;NP_002919.3 "D179Y,D197A,H137R,H137Y,N52K,Q116E,R160C,R178W" "0,0,0,0,0,0,0,0" 6004 12913 sw6090 TAF2_HUMAN "E686K,P8L,S1122N,S447T,T1139A" "0,0,0,0,0" 6873 1423 sw6092;dbsnp6708 WDR93_HUMAN;NP_064597.1 "A80T,D590E,F566S,I197V,L66H,R19Q,R649H,S254T,T29I,T352M,T598A,V527M,Y136H,Y476F,Y591S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56964 4202 sw6093;dbsnp1492 XRRA1_HUMAN;NP_892014.1 "A207V,A229V,E128K,F3L,I631T,K480E,Q645E,R471H,R58S,S332F,S534N,T154A,T473R,V274I,V521M,V546I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 143570 3272 sw6094;dbsnp14051 CEP85_HUMAN;NP_073615.2 "A542T,A547T,D411V,G136S,H208Y,L405F,L684V,Q296R,Q668H,R48H,S19I,S213N,S556A,T155A,T9A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64793 3503 sw6095 KCC1B_HUMAN Q262H 0 139728 8032 sw6096;dbsnp22238;hgmd0613_2263 ANM10_HUMAN;NP_612373.2 "A311V,A388G,A388T,C290Y,C747Y,E226K,E286G,G185E,L111V,P338L,P426A,P746S,Q336L,Q467R,R737H,S483G,T234M,T842I,V775I,V777I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90826 2927 sw6098;dbsnp7761 CP046_HUMAN;NP_689550.2 "A285V,A80S,D101H,D293N,D46N,E96K,G262D,I288T,I63T,K357E,P140R,P213L,P388S,S109F,T77S,W84R,Y335H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 123775 8683 sw6099;dbsnp5209 NEK5_HUMAN;NP_954983.1 "A151T,A544T,C531R,D550Y,E205G,E552K,F643L,H233R,K255Q,K617N,L136F,L190F,M601V,P226L,P334Q,Q211H,R290H,R428H,R474C,R474L,R96W,V690I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341676 3997 sw609;dbsnp17741 GSC2_HUMAN;NP_005306.1 "L138Q,R47C" "0,0" 2928 12848 sw60;dbsnp20790 TMM89_HUMAN;NP_001008270.1 "A63T,D130N,I81M,P61T,R89W,R90Q,R90W,R91H,S24L" "0,0,0,0,0,0,0,0,0" 440955 13736 sw6101;dbsnp14587 FBX42_HUMAN;NP_061867.1 "A509T,G435S,M639T,P471A,S11N,T598A" "0,0,0,0,0,0" 54455 3900 sw6102;sws728;dbsnp4329 SCYL2_HUMAN;NP_060458.3 "D923N,E663K,I615M,M321V,P357L,S744I,T712A,T716S,T720S,T745A,V594I,V63G,V888M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55681 2436 sw6103;dbsnp18494 TTC27_HUMAN;NP_060205.3 "A441S,A518S,G483R,N298H,N794S,Q735R,R165H,R227Q,R444H,R525H,R586H,R682Q,S836I,T205I,T498M,V612I,V642I,Y476C,Y502H,Y652F,Y69H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55622 2937 sw6104;dbsnp56 ACSM6_HUMAN;NP_997204.2 "C40S,E19G,E404A,I223T,K227R,R113Q,R155H,T371M,V176M,V472I" "0,0,0,0,0,0,0,0,0,0" 142827 7006 sw6105 PDXD2_HUMAN "L429F,L429R,M209V" "0,0,0" - 3302 sw6106;dbsnp3248 PLBL1_HUMAN;NP_079105.4 "L529V,P129T,P26Q,P534A,P546S,R438Q,R524H,T189P,V265I,V377A" "0,0,0,0,0,0,0,0,0,0" 79887 5793 sw6107;dbsnp27894 FUT10_HUMAN;NP_116053.3 "A260D,A260V,E31D,G101E,I131V,L181V,L368V,L457R,L59F,Q27R,Q465K,R371P,T165I,V20I,Y268H,Y350H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84750 7020 sw6108;dbsnp23347 F173B_HUMAN;NP_954584.2 "A105V,A107V,L229M,T75M,V114A" "0,0,0,0,0" 134145 12274 sw6109;dbsnp6794 WDR73_HUMAN;NP_116245.2 "A26T,D334G,D334V,G298V,R249H" "0,0,0,0,0" 84942 9021 sw610;spmut975;dbsnp27244 INSI1_HUMAN;NP_005533.2 "A27T,I122V" "0,0" 3638 11323 sw6111;dbsnp9273 GGT6_HUMAN;NP_001116362.1 "A289S,A34V,A58V,L35P,P401S,P442L,R40W,V290M" "0,0,0,0,0,0,0,0" 124975 6786 sw6113;dbsnp19936 RL22L_HUMAN;NP_001093115.1 "K43Q,T65I,V97F" "0,0,0" 200916 14378 sw6114;dbsnp25133 CF058_HUMAN;NP_001010905.1 "C308G,F15C,I51V,N299S,T212S,T284S,V172I,Y74C" "0,0,0,0,0,0,0,0" 352999 10144 sw6116;spmut1560;dbsnp28375 PKN3_HUMAN;NP_037487.2 "A180E,D337H,E351K,G450S,K678R,P553T,Q210R,Q352R,R212C,R425Q,R425W,R515H,R598W,S306R,V404L,V772I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29941 2665 sw6117;dbsnp6586 CO026_HUMAN;NP_775799.2 "C148G,L21P,M54V,P284S,S237N" "0,0,0,0,0" 161502 10833 sw6118;dbsnp27779 CH047_HUMAN;NP_775820.2 "E141K,E166K,E226D,E278K,H287R,K103N,L62I,L84V,P115L,P216L,P301L,Q244P,R59H,S100F,V88I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 203111 9111 sw6119;dbsnp128;dbsnp129 ANR16_HUMAN;NP_001009941.1;NP_061919.1 "H312R,Q353R" "0,0" 54522 9387 sw611;dbsnp26646 NUPL2_HUMAN;NP_031368.1 "D391N,G337E,G349D,G94V,I153V,K392N,L319P,N56S,Q36R,S62T" "0,0,0,0,0,0,0,0,0,0" 11097 8079 sw6120;dbsnp14183 TMM81_HUMAN;NP_976310.1 "A225V,F100S,N45S,Q255R,R118W,R125Q,R77Q,V127I,V62I" "0,0,0,0,0,0,0,0,0" 388730 11801 sw6121;dbsnp19461 F171B_HUMAN;NP_803237.3 "E61K,L221V,P250S,P803Q,R306W,R524C,R95H,V302I" "0,0,0,0,0,0,0,0" 165215 3052 sw6122;dbsnp7719 PDXD1_HUMAN;NP_055842.2 "A147V,A180T,A310V,E733Q,F405L,G145E,I82M,L428V,M448T,N38D,N608T,P205H,P301L,P784L,Q66H,R337C,R458W,S416L,S533N,S721N,T697I,V162I,V269G,V381G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23042 3302 sw6123;dbsnp11487 ZN530_HUMAN;NP_065931.3 "C493Y,D41N,E236Q,E74A,G171R,G174R,G262S,G525R,H110Q,H509Y,H569Y,I192V,R40H,R558H,S124P,S52Y,S69T,T169M,T64A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348327 2862 sw6124 ZN549_HUMAN I8N 0 256051 4695 sw6125;dbsnp7341 K1609_HUMAN;NP_065998.3 "A256G,A435T,C267R,D172E,E233D,E438Q,H97Q,I220V,I286V,L249V,N159S,N39S,N423T,N52D,P414L,P59L,Q434R,R10L,R161Q,R444C,R71W,S396L,S443L,S44F,T130A,T354M,T386M,V121M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57707 7467 sw6126;sws731;dbsnp4443 CCD62_HUMAN;NP_958843.2 "E422K,K429E,M361T,P526A,Q63R,R237Q,R27W,R62W,T141M,T394K,T646M,V532M,Y313F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84660 4227 sw6127 TRI40_HUMAN "E215K,K142Q" "0,0" 135644 11743 sw6128;dbsnp14053;dbsnp14054 LRC8B_HUMAN;NP_056165.1;NP_001127948.1 "A418D,C799Y,D288N,K490R,N689S,Q419K,R301H,R469H,V108I" "0,0,0,0,0,0,0,0,0" 23507 3186 sw6129;dbsnp9489 CB5D1_HUMAN;NP_653208.2 "F20L,G5D,L206F,P31S,R197W" "0,0,0,0,0" 124637 12359 sw612;spmut385;dbsnp22137 CLOCK_HUMAN;NP_004889.1 "E380K,G235E,G673R,H542R,I169V,L395I,M611V,M682L,R82Q,S171P,S208C,V249A" "0,0,0,0,0,0,0,0,0,0,0,0" 9575 2920 sw6130;dbsnp22817 TM154_HUMAN;NP_689893.1 "S174L,S93F,T121I" "0,0,0" 201799 13307 sw6132;dbsnp29719;dbsnp29720 CSAG1_HUMAN;NP_705611.1;NP_001096046.1 "F46L,K62R,P54R,V68I,V68L,Y28F" "0,0,0,0,0,0" 158511 14834 sw6133;spmut1747;dbsnp7744 RFWD3_HUMAN;NP_060594.3 "A297T,G164R,I564V,I770T,K259E,M149V,M767V,P265S,Q412K,R392K,R673Q,R756C,S361F,T187N,T90N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55159 3414 sw6134;dbsnp1473 PGM2L_HUMAN;NP_775853.2 "E505D,H527Q,L14P,N608I,P226L,R529Q,T522I,V531F,V531I,V531L" "0,0,0,0,0,0,0,0,0,0" 283209 4878 sw6135;dbsnp6754 AAGAB_HUMAN;NP_078942.3 "H134R,I132L,N228D,T193I" "0,0,0,0" 79719 10527 sw6136;dbsnp7397 PRS54_HUMAN;NP_001073961.1 "D42N,E45K,E75K,K210N,N99K,P196A,P353H,R374K,S182G,S394N,T209M,T295A,V189M,V240I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221191 8684 sw6138;dbsnp17045 KR261_HUMAN;NP_981950.1 "C3Y,G121S,G61S,N5K,P188T,S104A,S26Y,T84I,V88M" "0,0,0,0,0,0,0,0,0" 388818 12744 sw6139;dbsnp13059 ATAS1_HUMAN;NP_001138946.1 "A199V,D104E,P87S,S143F" "0,0,0,0" 374973 12830 sw613;spmut346;dbsnp19045;dbsnp19046 CFLAR_HUMAN;NP_001120655.1;NP_003870.4 "A349S,A459V,D376V,L203I,M120V,R303Q,S285N" "0,0,0,0,0,0,0" 8837 7000 sw6140;dbsnp24984 CXB7_HUMAN;NP_940970.1 "E50D,F206L,F29C,F5S,G148A,K49R,L109F,M83I,R32C,T177M,T20I,V43M" "0,0,0,0,0,0,0,0,0,0,0,0" 375519 11427 sw6141;dbsnp8981 TMM88_HUMAN;NP_981956.1 "L44F,L66V,V100G,V31I,V58I" "0,0,0,0,0" 92162 13741 sw6142 TBA3E_HUMAN "A126V,A449E,S101N,S162G,W402R" "0,0,0,0,0" 112714 7568 sw6143;dbsnp11562 PONL1_HUMAN;NP_079101.3 "A150T,E113K,H34Y,H476Q,L39S,L97F,M8I,P140A,P47A,R405H,R44W,V505I" "0,0,0,0,0,0,0,0,0,0,0,0" 79883 6439 sw6144;dbsnp11739 ZN613_HUMAN;NP_001026891.2 "A56V,D565A,D611V,D84N,G181C,I135R,K93E,P27S,R375C,R375H,R419Q,S163F,S235R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79898 4947 sw6145;dbsnp23495 TT23L_HUMAN;NP_653326.3 "A119T,E28K,H135P,H22R,K247N,K67E,K75N,N153D,R325K,T150M,T290I,V130F,V353F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 153657 9388 sw6146 RG9D3_HUMAN "V234G,V242A" "0,0" 158234 10499 sw6147;dbsnp11576;dbsnp11577;dbsnp11578;dbsnp11579 ZN790_HUMAN;NP_001229729.1;NP_001229730.1;NP_996777.2;NP_001229731.1 "G350R,G428R,H154R,H188R,I610S,K442E,N587S,Q189H,Q301R,R489C,T486S,V12I" "0,0,0,0,0,0,0,0,0,0,0,0" 388536 4730 sw6149;dbsnp23324;hgmd0613_1701 TTC37_HUMAN;NP_055454.1 "A1077D,A1450S,A589T,D1283N,E1069D,E1314K,G1335D,G251R,K287R,L1485R,L1505S,L437V,L759F,L867V,M773L,N1396S,P1270A,R1296S,R137Q,R768H,T1292S,T562M,V1081I,V44I,V693I,Y1067H" "1,0,0,1,0,0,0,1,0,1,1,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 9652 765 sw6150;dbsnp17552 CV043_HUMAN;NP_057533.2 "E201D,I4T,N10S,R113Q" "0,0,0,0" 51233 12339 sw6151;dbsnp4971 BORA_HUMAN;NP_079084.2 "D151N,E178K,S210L,S308F" "0,0,0,0" 79866 5700 sw6152;spmut2329;dbsnp6844 ULK3_HUMAN;NP_001092906.1 "A124T,G282E,K445R,R101H" "0,0,0,0" 25989 7164 sw6154;dbsnp21044 SHQ1_HUMAN;NP_060600.2 "C134Y,D11E,D175Y,E433D,E541K,F72C,G63R,I169V,I209V,R563H,S140I,S27F,S489N,S9G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55164 5457 sw6155;dbsnp18718 KCD18_HUMAN;NP_689600.2 "A216G,A333V,A349G,A413V,C390S,E9K,G336C,K380R,V227A,V227G,V297L,Y147C" "0,0,0,0,0,0,0,0,0,0,0,0" 130535 8015 sw6157;dbsnp10948 LIRA6_HUMAN;NP_077294.2 "A318T,A4T,D248V,F409L,F409Y,G149R,H290Y,H405Y,L69W,M117T,M317I,M417V,M88I,N122S,N314D,N474S,P288R,Q472K,Q59R,R143Q,R205Q,R20H,T187N,T201I,V206L,V21M,V341M,V459L,Y400C,Y400F,Y400H,Y400R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79168 4574 sw6158;dbsnp29750;dbsnp29751;dbsnp29752;dbsnp29753;dbsnp29754;dbsnp29755;dbsnp29756;dbsnp29757 BHLH9_HUMAN;NP_001136000.1;NP_001135999.1;NP_001135998.1;NP_001135997.1;NP_001136002.1;NP_001136001.1;NP_001135996.1;NP_085142.1 "A129S,A154V,C318R,E411G,I119T,I219V,N189K,P238L,S132G" "0,0,0,0,0,0,0,0,0" 80823 5882 sw6159;dbsnp28239 TMM65_HUMAN;NP_919267.2 "G112R,I97V" "0,0" 157378 12120 sw615;dbsnp5814 NKX28_HUMAN;NP_055175.2 "A42V,D16A,P26S,Q36E,S4F" "0,0,0,0,0" 26257 12140 sw6160;dbsnp23091 TTC33_HUMAN;NP_036514.1 "E97K,I233V,L69M,T224S,V102M,V14F" "0,0,0,0,0,0" 23548 11645 sw6161;dbsnp26344 KLD10_HUMAN;NP_055812.1 "D183G,E295G,I274V,L437I,S2L" "0,0,0,0,0" 23008 7723 sw6162;dbsnp18475 MYO7B_HUMAN;NP_001073996.1 "A1167V,A1263T,A457T,D1946N,E1647D,F1858V,F1858Y,F633S,G21S,H405Y,I1283V,K1605Q,K736N,L1152V,L1411F,M1268V,Q2105R,R1264Q,R1277H,R1312Q,R1729Q,R1892Q,V1012I,V1530I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4648 370 sw6163;dbsnp20997 CC019_HUMAN;NP_057558.3 "D103N,D143N,E185G,K257T,M230I,P158S,P327L,R122H,R174C,S159N,T436M" "0,0,0,0,0,0,0,0,0,0,0" 51244 7258 sw6164;dbsnp23468 FBX38_HUMAN;NP_995308.1 "A894T,L311I,P781S,Q1007K,Q822R,R818K,S592P,S716G,V1183I,V238I,Y114H" "0,0,0,0,0,0,0,0,0,0,0" 81545 1455 sw6165;dbsnp28331 KCNV1_HUMAN;NP_055194.1 "D22G,R321C" "0,0" 27012 6663 sw6166 NCEH1_HUMAN L343M 0 57552 7633 sw6167;dbsnp26519;dbsnp26520 FIGL1_HUMAN;NP_001036227.1;NP_071399.2 "A250V,A33T,D171H,D98G,G28R,H216Y,I236T,I273V,K473Q,L184F,L422W,M112I,M581T,P397S,Q256L,T448S,T609I,V137M,Y261C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63979 4326 sw6168;spmut2208;dbsnp21236 TRAT1_HUMAN;NP_057472.2 "A111T,D137G,I185T,P124S,P124T,R38Q,R85Q,S148P,V147I" "0,0,0,0,0,0,0,0,0" 50852 13241 sw6169;dbsnp8113 SPSB3_HUMAN;NP_543137.2 "P303L,R342G,R345W,S171L,S80F,T66S" "0,0,0,0,0,0" 90864 9540 sw616;dbsnp7879 SOCS1_HUMAN;NP_003736.1 Q210H 0 8651 12711 sw6170;dbsnp9150 TRI65_HUMAN;NP_775818.2 "A205V,C95Y,G182S,G364R,G366S,I416T,L509P,P487R,Q218R,R221W,R282W,R331C,R348H,R418W,S250L,V222G,V488I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 201292 6361 sw6171;dbsnp26091 POZP3_HUMAN;NP_036362.3 "A43V,C157S,L153P,R176H,T183R,T30I,V178M" "0,0,0,0,0,0,0" 22932 1284 sw6172;dbsnp9126;hgmd0613_2078 RHDF2_HUMAN;NP_078875.4 "A122T,A249T,A314T,A361V,A67S,A709V,D528Y,G346R,G540S,G9R,I186T,K525E,M591V,N751K,P189L,P208L,R109H,R160H,R204K,R264Q,R348Q,R495W,S10R,S256L,S292F,V11M,V89I" "0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 79651 2857 sw6173;dbsnp5987;dbsnp5988 CN043_HUMAN;NP_001036783.1;NP_919254.2 "A86V,D895N,E953V,I354V,P162T,P245Q,P30S,P554L,P595A,Q766H,R456Q,R492W,R763Q,R964Q,S925C,S925G,T893M,Y178C,Y178F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91748 1918 sw6174;dbsnp26776 BRAT1_HUMAN;NP_689956.2 "A145V,A658T,A716V,C289S,D142N,D276N,D347N,D431N,E522Q,E681K,G182E,G576A,G576R,G576S,G623S,G663D,L321R,L600F,M295V,P503S,Q496R,R20G,R243H,R285Q,R367C,R610W,R621Q,R644Q,R737W,R785W,S121R,T233M,T349M,T440S,T809P,V319I,V546L,V56L,V56M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221927 3086 sw6175;dbsnp2062 LRFN4_HUMAN;NP_076941.2 "A357V,A370P,A379P,A416T,D444N,I448V,R266H,R69H,V340A" "0,0,0,0,0,0,0,0,0" 78999 3297 sw6176;dbsnp7902 WDR59_HUMAN;NP_085058.3 "D119E,E881K,G803C,L368V,N229S,N533K,P201T,P274A,R738Q,R906Q,R910H,S564P,S629N,T524A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79726 2217 sw6177;spmut470;dbsnp494 DCR1A_HUMAN;NP_055696.3 "A274G,A828V,D317H,E357G,E59D,G475E,G582W,G71D,H764R,I859F,I881T,K202M,K58E,P287L,P316L,P459L,Q92R,R276H,R368Q,S623P,S83R,T1015S,T309S,T500N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9937 1939 sw6178;dbsnp29825 FOXR2_HUMAN;NP_940853.1 "A42G,F228L,H277Y,P67A,R27K,V286A" "0,0,0,0,0,0" 139628 10630 sw6179;dbsnp14269 CNST_HUMAN;NP_689822.2 "C31Y,G319V,L563F,L87S,N251S,P114S,Q183R,Q288R,Q456E,R399C,S28N,T329P" "0,0,0,0,0,0,0,0,0,0,0,0" 163882 3829 sw6180;dbsnp9288 CC137_HUMAN;NP_954981.1 "E207G,G274R,H127Q,K50N,R177W,R229Q,R282W" "0,0,0,0,0,0,0" 339230 11120 sw6181;dbsnp9312 CQ101_HUMAN;NP_078924.1 "P272R,R298C" "0,0" 79701 10123 sw6183 DR4L2_HUMAN L17M 0 10901 11258 sw6184;dbsnp27643 ATAD2_HUMAN;NP_054828.2 "C1362R,D250N,D264E,D266E,D270N,D275E,D276E,E263D,E278D,E283D,I1280T,K1047E,L1147P,R654C,R847H,R913H,S410G,V1046A,V864M,Y1173C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29028 999 sw6185;dbsnp5735 TMED8_HUMAN;NP_998766.1 "D121N,P15H,Q5K,S12P" "0,0,0,0" 283578 10266 sw6187;dbsnp21786 ZNT9_HUMAN;NP_006336.3 "A114V,E84D,L353S,M266V,M331V,M50V,P52S,R204M,R372W,R82I,S16F,T444S,T97A,V71I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10463 5575 sw6188;dbsnp9200;hgmd0613_550 GP179_HUMAN;NP_001004334.2 "A1806T,C1381R,D126H,D218E,E1369Q,E1630Q,E868D,G1498S,G170R,G2039W,G455D,H603Y,K1150E,K1227R,L1855V,L454P,P1283S,P1784T,P1977H,P231S,Q1176E,Q1869E,R1098W,R1436W,R168Q,R320Q,R493H,R753Q,R884W,S1152P,S307R,T2165K,T2165M,V1487M,Y220C" "0,0,1,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 440435 277 sw6189;dbsnp7980 CEMP1_HUMAN;NP_001041677.1 "A107G,A62E,K55E,P214L,R225C,S177A,T238K,T27P" "0,0,0,0,0,0,0,0" 752014 11972 sw619 GPR42_HUMAN "C45R,N346S,R44Q,V227L,V256A,W174R" "0,0,0,0,0,0" 2866 9758 sw6190;dbsnp14663 GTR7_HUMAN;NP_997303.2 "A65E,A6V,C385S,E377K,F436L,F474I,G382S,H393R,I336N,I439M,K470Q,R224C,R257H,R261Q,R261W,T235A,T247M,T59N,V135I,V289M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 155184 6440 sw6191;dbsnp23186 AMPQ_HUMAN;NP_776161.3 "A35S,A693V,D342E,D377N,D608A,D812E,E487K,F593L,G123R,G620V,H813R,I741M,L54S,L689F,L806I,M264V,N346T,N600D,P195L,P45T,Q205H,R328C,R328H,R601W,R63S,S555G,T138S,V478L,V640F,V936I,Y451C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 206338 2145 sw6192;sws732;dbsnp14380 SPG17_HUMAN;NP_996879.1 "A1412T,A172P,A2003G,C1321F,C806F,D747E,D973G,E1201V,E158V,E1745A,F1912L,G1021R,G2133D,G2213E,H1631Y,H2160Q,H221Q,I1556T,K1747E,K876E,L2036Q,N208S,N28S,P1348L,P1711S,P1753L,P2116Q,P489R,Q562E,R143Q,R144W,R1497C,R1656Q,R1890T,R2218H,R467W,S21A,S2221F,S888Y,S906P,T1162I,T121P,T1253P,T1590N,T195P,T739S,T82I,T82K,V2009M,V462I,Y1792C,Y431D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200162 328 sw6194;dbsnp20631 MO2R2_HUMAN;NP_001008784.2 "R113L,T215I" "0,0" 344807 9721 sw6195;dbsnp5789 DEGS2_HUMAN;NP_996801.2 "A195V,A57T,G137S,N94S,R147H,R147S,S8N,V182M" "0,0,0,0,0,0,0,0" 123099 10321 sw6196;dbsnp18848 FIGLA_HUMAN;NP_001004311.2 "A4E,S141T" "0,0" 344018 12548 sw6197;dbsnp4081 GP133_HUMAN;NP_942122.2 "A458T,A743T,A779V,D453N,D870N,E413K,I569V,M695T,M851T,Q405P,R199C,R540C,R624C,R868H,S265Y,S464A,S523L,T484M,V184I,V209M,V270A,V508M,V777M,W174S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283383 2744 sw6198;dbsnp823 BL1S2_HUMAN;NP_776170.2 "D14H,S13R" "0,0" 282991 14050 sw6199;dbsnp24337 SCND3_HUMAN;NP_443155.1 "C178G,G13R,H980Y,I893L,L664W,M155V,N1027I,N1027K,Q465K,R1064Q,R113W,R778Q,T942A,V812I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114821 1117 sw61;dbsnp25334 COLL1_HUMAN;NP_001010886.1 "A103T,F15C,F15S" "0,0,0" 340204 14390 sw62 CC162_HUMAN I84T 0 - 2574 sw6200;dbsnp23230 RICTR_HUMAN;NP_689969.2 "A713G,D1074G,D1454G,H418Y,M455T,P1668L,R873H,R907C,R910C,S837F,T1029A,T1266K,T1695I,Y565C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 253260 633 sw6201;spmut2259;dbsnp27687 U17L2_HUMAN;NP_958804.2 "A341V,A403V,A47T,C357S,C473G,D3E,D496H,E244K,E91V,G395D,H162L,K234Q,K40N,K438R,K66E,L291I,L62F,Q182K,R111Q,R423H,S358G,S45C,T512A,V183A,V295M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 377630 5710 sw6202 BRWD3_HUMAN K1288R 0 254065 298 sw6203;dbsnp11648;dbsnp11649 CS048_HUMAN;NP_954858.1;NP_954857.1 "A90T,G104E,L63V,P103L,R84C,V7I" "0,0,0,0,0,0" 84798 14439 sw6204;dbsnp14815 ATRAP_HUMAN;NP_065083.3 "A143V,G22D,M56V,R130C,R130S,R86H" "0,0,0,0,0,0" 57085 13820 sw6205 POTEB_HUMAN "A242T,A568T,A568V,C64W,C68R,H30D,K511E,M43V,M535K,N88D,Q286E,R524H,T77K" "0,0,0,0,0,0,0,0,0,0,0,0,0" 100996331 1801 sw6206;spmut1929;dbsnp6871 SHC4_HUMAN;NP_976224.3 "D42H,D447G,G234R,H361R,H627P,K244E,N324S,N376S,N52D,P80L,Q147P,Q400H,R392W,S532R,V151G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 399694 4799 sw6207;dbsnp23365 ZN474_HUMAN;NP_997200.1 "A211S,A277V,A354T,C171W,E155K,E46D,H259P,I223T,I238V,I27N,I67M,K242E,L320S,M249I,M249T,P261T,P85A,Q334E,R173H,R292Q,R90H,R95Q,S199P,S274C,S305C,S35N,S78L,T233P,V96L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133923 9320 sw6208;dbsnp5560 TSSK4_HUMAN;NP_777604.2 "E103G,H33Y,N153H,N216S,N316T,Q196R,R147W,S38L,T327M,V145M,V98I,Y89C" "0,0,0,0,0,0,0,0,0,0,0,0" 283629 9953 sw6209;dbsnp1663 F111B_HUMAN;NP_945185.1 "G218D,G684D,M441R,N540S,P731A,R373Q,T455P,T638M" "0,0,0,0,0,0,0,0" 374393 3751 sw6210;dbsnp5832 TBPL2_HUMAN;NP_950248.1 "E120K,I183V,P23R,R31P,R57S,S20F,T90I,T90R" "0,0,0,0,0,0,0,0" 387332 9094 sw6211 SAMD1_HUMAN E340D 0 90378 6010 sw6212 SMRD3_HUMAN P170S 0 6604 6117 sw6213;dbsnp9002 SARM1_HUMAN;NP_055892.2 "A68S,A719V,E416K,E431K,G456V,K602N,P23R,P332Q,S480A,T385N,V203E,W42L,Y501H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23098 3840 sw6214;dbsnp2188 S22AP_HUMAN;NP_955384.3 "C269R,G448A,K87M,M486V,R300T,R342C,R434H,R434P,R89C,S250G,S266C,V198I,V198L,Y32H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 387601 5798 sw6216;sws733;dbsnp29859 NHS_HUMAN;NP_938011.1 "A230T,A356T,D1369N,D910V,E890G,F1319L,F756S,G1289V,H1329R,H923L,K468R,M566T,P1161L,P216A,P551S,R1103K,R1260H,R562H,R677Q,S1458G,S1458N,S1510T,S1535T,S1590T,S367L,T1241M,T760M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4810 702 sw6217 CASC1_HUMAN A633E 0 55259 3864 sw6218;dbsnp28399 CC171_HUMAN;NP_775821.2 "A1266V,C581F,C821Y,D846G,E530D,E619Q,E690G,F1291L,F762S,G796R,I17N,I304T,K1069R,K477Q,L1175R,L311I,M1187I,N495I,R100W,R1121Q,R622S,R92G,S121T,S65N,S6A,S928T,T263S,T5I,T966M,V421M,V74A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 203238 1113 sw621;sws63;dbsnp9078 PER1_HUMAN;NP_002607.2 "A1108P,A1108S,A1108T,A1196V,A850D,A962P,A998T,C510G,D329G,E191K,H833R,L1045I,N55S,P37S,P859A,P859S,P963L,P969A,R1052C,R1189W,R246Q,R352W,R363W,R450H,R574Q,R968H,R994H,S296C,T463K,V1027I,V240I,Y181S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5187 1182 sw6220;dbsnp18919 AMP1D_HUMAN;NP_954697.1 "D92N,G14V,G172R,H161R,Y183H" "0,0,0,0,0" 254042 10016 sw6221;dbsnp10435 ANR12_HUMAN;NP_056023.3 "A405P,C1478S,C1648Y,D367G,E1002V,E390D,E394D,E927D,F841L,G989S,H814Q,I94T,K906R,L1751V,L580I,L770V,L998S,M1509I,N1438D,P1793L,P277A,P324L,S1639R,S171T,S1758P,S463T,S46T,S606G,S791R,S818I,S818N,S818T,S875L,T1371A,T1624P,T1703A,T507I,T531S,T736A,T840N,V1362L,V1395M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23253 395 sw6222;dbsnp16373 SPIT4_HUMAN;NP_848550.1 "A30E,G73S" "0,0" 391253 14660 sw6223;dbsnp26602 WBS28_HUMAN;NP_872310.2 "A70D,G137S,G67V,I14N,Q52R,R55W,W78R" "0,0,0,0,0,0,0" 135886 11583 sw6225;dbsnp1999 PLET1_HUMAN;NP_001138496.1 "E192G,F165S,L141P,L20M,L20V,S142P,T36I" "0,0,0,0,0,0,0" 349633 12808 sw6226;dbsnp7840 TEPP_HUMAN;NP_955535.2 "H42Y,S233N,S260N,T138I" "0,0,0,0" 374739 10918 sw6227;spmut428;dbsnp6774 CRTC3_HUMAN;NP_073606.3 "A357T,A475G,D593E,E146K,G150E,G201R,H59R,K174N,L346S,N495S,Q504H,Q82K,S301N,S72N,W229G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64784 4926 sw6228;dbsnp11596 CRTC1_HUMAN;NP_056136.2 "A500S,P327S,R106W,R322H,T286A,T328A,V311I" "0,0,0,0,0,0,0" 23373 4592 sw6229;dbsnp14727 SAS6_HUMAN;NP_919268.1 "A259V,A260V,E187G,E233K,E256D,R612H,T524S" "0,0,0,0,0,0,0" 163786 4508 sw6230;dbsnp6770 CSPG4_HUMAN;NP_001888.2 "A1362V,A2210D,A445V,A488T,A67T,A684V,D281N,E2197K,E441D,E441K,G475R,H751R,I298T,L65R,M679V,N2250S,N275K,N292S,N547K,N685T,P1138T,P1740T,P486L,Q795R,R1025Q,R1128H,R1520W,R1557H,R1621H,R1684Q,R1703H,R1742C,R1757W,R182W,R1842Q,R1980H,R2247Q,R246W,R247L,R333C,R365Q,R450W,R641W,R660Q,R660W,R734W,R82C,R856Q,R874H,S1291L,S687L,S698N,T1147M,T122M,T2184M,T2261N,T305M,V1249I,V264M,V657M,V693M,V741M,V901G,Y1248C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1464 296 sw6231;sws735;dbsnp14704 KCNT2_HUMAN;NP_940905.2 "C413W,E810K,I624V,K429N,S640L,V737L" "0,0,0,0,0,0" 343450 1326 sw6232;dbsnp3322 CLC2A_HUMAN;NP_001124183.1 "E139Q,G136D,S35R,S73P" "0,0,0,0" 387836 13473 sw6233;dbsnp25415 MOXD1_HUMAN;NP_056344.2 "A152T,D330N,E256K,E376K,E488Q,G229S,I278V,K539E,R444C,T137M,T503M" "0,0,0,0,0,0,0,0,0,0,0" 26002 4991 sw6234;dbsnp18196 CP20A_HUMAN;NP_803882.1 "E392K,I320T,I353M,L346F,L423H,R220Q,S118G,S97L,V315L,V78M" "0,0,0,0,0,0,0,0,0,0" 57404 7361 sw6235;dbsnp24902 SFTA2_HUMAN;NP_995326.1 N37S 0 389376 14835 sw6236;dbsnp6662 SPESP_HUMAN;NP_663633.1 "G191E,H134Q,I233S,L133F,T100I" "0,0,0,0,0" 246777 9654 sw6238;dbsnp11948 PCSK4_HUMAN;NP_060043.2 "A221T,A224T,A456V,D264N,E262K,E277K,F563L,G364R,H703Y,I161V,L510V,M129I,P586L,P747A,Q81E,R266H,R280W,R90H,S246N,S708W,T119M,T267M,T592I,T641A,V116M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54760 3256 sw6239;dbsnp4951 KDEL1_HUMAN;NP_076994.2 "I114V,K263R,P66S,R149W,R313H,R474Q,R479M" "0,0,0,0,0,0,0" 79070 6525 sw623;dbsnp24800 FABP7_HUMAN;NP_001437.1 "N104S,T61M" "0,0" 2173 14196 sw6240;dbsnp27451 PRS55_HUMAN;NP_940866.2 "A140G,A212V,D156N,E278D,F4V,G15R,G37E,G70A,L301P,M225I,P328S,P341A,P44R,P46A,R187C,R21Q,S271T,T179R,V123M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 203074 9603 sw6241;spmut1139;dbsnp28560;dbsnp28561;dbsnp28562 LRSM1_HUMAN;NP_001005373.1;NP_612370.3;NP_001005374.1 "D90N,G196S,I157V,L306R,N318D,N412K,Q322R,Q409E,R190Q,R272W,R400Q,R704H,S183L,V659M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90678 3851 sw6242;dbsnp1445 NXPE4_HUMAN;NP_001071107.1 "A451V,C251S,I315V,M249T,R141K,T205I,T57R,V385A,Y398H" "0,0,0,0,0,0,0,0,0" 54827 5703 sw6243;dbsnp26326 F180A_HUMAN;NP_995327.1 "A32P,D122N,Q150P,S108R,V96I" "0,0,0,0,0" 389558 13485 sw6244;dbsnp22401;dbsnp22402 F198B_HUMAN;NP_001121896.1;NP_057697.2 "A315V,D476G,G141E,G432S,H361R,L172V,Q9H,R284G,R306C,T2I,V162A,Y506H" "0,0,0,0,0,0,0,0,0,0,0,0" 51313 6185 sw6245;dbsnp22050 PARM1_HUMAN;NP_056208.2 "G108A,G99S,S127L,T120A,V173I,V264M" "0,0,0,0,0,0" 25849 10650 sw6246;dbsnp5004 TMCO3_HUMAN;NP_060375.4 "A443T,A445T,F527L,I75V,K132R,Q173R,Q48R,R136W,T570M,V470G,V533I,V67I,Y485C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55002 4296 sw6248;dbsnp29069 SUSD1_HUMAN;NP_071931.2 "E590K,G285D,H524Q,H88Y,I191T,N402S,P602R,Q201E,R263C,R343C,R415S,R416H,R603C,S229Y,T175I,T195M,V370M,V64I,V72F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64420 3638 sw6249;dbsnp10898 KIRR2_HUMAN;NP_954649.2 "A142V,A170T,A685V,C103S,E327K,G38W,H580Y,K538R,K591E,P399Q,Q497R,R111C,R19S,R205Q,R302S,S556N,V353M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84063 3998 sw624;dbsnp17461 P2RX6_HUMAN;NP_005437.2 "A415T,A60T,C161S,G439R,G81V,H152Y,H154R,L23M,Q233H,R242H,S429R,V38G,V50M,V84I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9127 7738 sw6250;dbsnp6452 LCTL_HUMAN;NP_997221.2 "A240T,G167S,K129T,N292D,P119H,P531A,Q160K,R203W,R23Q,R357H,S31C,S31P,S361R,T212M,T52M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 197021 5586 sw6251;dbsnp12108 LYPD4_HUMAN;NP_775777.3 "H203Y,M53V,Q58P,S85Y,T184S,V109I" "0,0,0,0,0,0" 147719 11992 sw6252;dbsnp10880 LYPD5_HUMAN;NP_001026919.2 "A90P,E192K,M1R,M3V,N167S,P47A,P47R,S151A,V172A" "0,0,0,0,0,0,0,0,0" 284348 11887 sw6253;dbsnp23651;dbsnp23652 ISK6_HUMAN;NP_001182219.1;NP_995313.2 "P36T,S11Y" "0,0" 404203 14823 sw6254;spmut1107;dbsnp19029 LCLT1_HUMAN;NP_872357.2 "I290V,N82S,R244H,T50I" "0,0,0,0" 253558 8289 sw6256;dbsnp22080 ENPP6_HUMAN;NP_699174.1 "A418T,D357N,R232H,R333Q,S291C,S419G,T162M,T99N,V235I" "0,0,0,0,0,0,0,0,0" 133121 7766 sw6257;dbsnp23289 CE046_HUMAN;NP_996849.2 "F18I,S4L,Y22C" "0,0,0" 389336 14785 sw6258;dbsnp2204 MPZL3_HUMAN;NP_938016.1 "D122N,D228V,G45A,M155V,R71H,V159M,V168G,V172M" "0,0,0,0,0,0,0,0" 196264 12224 sw6259;spmut600;dbsnp9321 ENPP7_HUMAN;NP_848638.2 "A17V,D272N,E400K,G28S,G354S,K104N,L193V,L4P,N402S,R158Q,R158W,R221Q,R221W,R238S,R393W,T201M,V219G,V398M,V444M,V49M,V83I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339221 7439 sw625;sws64;spmut1059;dbsnp29773 KDM6A_HUMAN;NP_066963.2 "A30T,C468R,E834D,H1060L,I270V,L615V,N777K,Q271H,Q497H,R922K,T581A,T584M,T726K" "0,0,1,0,1,0,0,0,0,1,0,0,0" 7403 912 sw6260;dbsnp28705 LCN15_HUMAN;NP_976222.1 "A80V,G7S,K164E,S118C,S152A,V39M" "0,0,0,0,0,0" 389812 13281 sw6261;dbsnp7810 EST3_HUMAN;NP_079198.2 "A151T,A402T,A481D,A523V,E191K,G169E,G231S,G298E,I213N,I555V,K490E,M144I,P445L,R179C,R367W,T224I,V129I,V383M,Y160H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23491 5532 sw6262;dbsnp21133 TM207_HUMAN;NP_997199.1 "A12V,C33R,G112E,G49R,I100V,L57V,M38R,P22L,R87S" "0,0,0,0,0,0,0,0,0" 131920 13998 sw6263;dbsnp14012 HIPL2_HUMAN;NP_079022.2 "G276R,H391D,I261S,K538T,L263V,L487M,R167H,R287L,R287P,R394Q,R423C,R423H,R434C,R434L,R695C,R695H,R76H,S705I,T551M,V197M,V241E,V241M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79802 3339 sw6264;dbsnp23704 ARSK_HUMAN;NP_937793.1 "I60V,K490N,L381S,P337L,Q525R,R26P,S328G,S444L,Y229F" "0,0,0,0,0,0,0,0,0" 153642 6042 sw6265 PRS57_HUMAN P143L 0 400668 11221 sw6266;dbsnp2490 OLFL1_HUMAN;NP_940876.2 "A108G,A259T,C343Y,E113V,M70R,N387T,P23L,R193Q,R258Q,R340H,R97W,T118I,T26A,T288P,T53M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283298 8543 sw6267;spmut655;dbsnp22272;hgmd0613_2283 F175A_HUMAN;NP_620775.2 "A239T,A348T,D373N,K227T,M299I,Q122E,R252Q,T141I,V306A" "0,0,0,0,0,0,0,0,0" 84142 8405 sw6268;dbsnp23558 CWC27_HUMAN;NP_005860.2 "A255E,A295V,E153K,E412D,E414Q,P256A,Q7P,V245L" "0,0,0,0,0,0,0,0" 10283 7165 sw6269;spmut1416;dbsnp5206 OLFM4_HUMAN;NP_006409.3 "A10S,A218D,G64D,I29V,L22V,L506M,Q172E,R101C,S36P,Y422N" "0,0,0,0,0,0,0,0,0,0" 10562 6466 sw626;dbsnp10905 FFAR2_HUMAN;NP_005297.1 "E106Q,I46V,L211H,R301H,R35Q,S251N,T306R,V221M,V240M" "0,0,0,0,0,0,0,0,0" 2867 10136 sw6270;dbsnp8992 DHR13_HUMAN;NP_653284.2 "A212P,A212T,D199H,L336Q,P146A,Q271R,R130W,R164H,R191Q,R209Q,V205A" "0,0,0,0,0,0,0,0,0,0,0" 147015 9039 sw6271;dbsnp2363 LAYN_HUMAN;NP_001245319.1 "E66K,E86K,F169L,H155R,I163V,N293K,P269S,S339L,S348N,V14M" "0,0,0,0,0,0,0,0,0,0" 143903 8939 sw6272;dbsnp11491 VSTM1_HUMAN;NP_940883.2 "A186T,A232G,D122N,L124F,S163G,S189P,S197L" "0,0,0,0,0,0,0" 284415 12196 sw6273;sws736;dbsnp22157 AMTN_HUMAN;NP_997722.1 "A109T,G177V,G88E,H129Y,N45S,P18S,R15W,R171H,S50P" "0,0,0,0,0,0,0,0,0" 401138 12764 sw6274;dbsnp23298 BTNL8_HUMAN;NP_001035552.1 "C415G,E229K,E94G,L243R,P299L,R162Q,R209W,R54Q,S176F,S62G,S6G,T143A,T326K,V21G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79908 6664 sw6275;dbsnp9194 CQ099_HUMAN;NP_001156547.1 "H78Q,M265V,P27S,P56L,R21Q,R43H,T48N,V28A,W101R" "0,0,0,0,0,0,0,0,0" 100141515 11584 sw6276;dbsnp412 PXDC2_HUMAN;NP_116201.7 "A74V,I458V,N104H,R173H,V189I,V396I,V82I" "0,0,0,0,0,0,0" 84898 6148 sw6277;dbsnp7422 CP089_HUMAN;NP_689672.4 "G170R,G215A,G334S,L296S,P318S,R53S,S322C,Y363H" "0,0,0,0,0,0,0,0" 146556 8544 sw6278;dbsnp24571 CF015_HUMAN;NP_054789.2 "A145P,A83P,G240V,G291D,G48R,K165E,L40F,M232I,N43D,P61L,R177L,R302C,R4S,V5M,V81A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29113 10267 sw6279;sws737 F131A_HUMAN C52R 0 131408 9286 sw628 ENK7_HUMAN "C97Y,V272I,V348I,V534I" "0,0,0,0" - 5679 sw6280;dbsnp11794 IGFL3_HUMAN;NP_997276.1 "C73G,R67C,T66S" "0,0,0" 388555 14326 sw6281;dbsnp27846 LYPD2_HUMAN;NP_991108.1 "A7V,C28Y,L54F,N46S,R57W,R5Q" "0,0,0,0,0,0" 137797 14327 sw6282;dbsnp24579;dbsnp24580 PI16_HUMAN;NP_001186088.1;NP_699201.2 "K68R,L416V,P122T,P182L,P364S,P423L,S296G,T262A,T29A,T50P" "0,0,0,0,0,0,0,0,0,0" 221476 7345 sw6284;dbsnp7935 SE6L2_HUMAN;NP_963869.2 "D518N,E530K,E778K,G340S,G860S,P23S,R263Q,R386H,R455Q,R74P,T220M,T352N,V193I,V273I,V729I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26470 2479 sw6285 MFSD7_HUMAN S170P 0 84179 5682 sw6286;dbsnp21049;dbsnp21050 TM108_HUMAN;NP_001129941.1;NP_076432.1 "A106T,G148V,P386A,P84L,Q76P,R132C,R211W,T357M" "0,0,0,0,0,0,0,0" 66000 5485 sw6287;sws739 K1324_HUMAN "I86V,L1009P,T623P" "0,0,0" 57535 1985 sw6288;dbsnp9492 CLM9_HUMAN;NP_660316.2 "D221N,E288K,G27A,G71D,N287K,P128R,P158R,P22S,R82C,R85H,T228A,V311A,V311L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 146894 10091 sw6289;dbsnp23581 BTNL9_HUMAN;NP_689760.2 "D3E,G511R,H25R,I111M,K304N,L442V,P8L,R313W,S351F" "0,0,0,0,0,0,0,0,0" 153579 6055 sw6290;dbsnp11396 TD26_HUMAN;NP_061157.3 "A5T,R147Q,R172W,R59W" "0,0,0,0" 55908 13003 sw6295;dbsnp6699;dbsnp6700;dbsnp6701;dbsnp6702 ISLR2_HUMAN;NP_001123610.1;NP_001123609.1;NP_065902.1;NP_001123608.1 "A392D,A392V,L529I,R648H,S137F" "0,0,0,0,0" 57611 3659 sw6296;dbsnp20289 LRRN1_HUMAN;NP_065924.3 "A618S,A618T,E689D,G114R,G440S,G495R,L395V,N59S,Q706R,R185C,R288Q,R330C,R510Q,S335R,T190I,T441M,T551M,T702P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57633 3908 sw6297;dbsnp25065 TRML4_HUMAN;NP_937796.1 "A2S,P48L,S136F,T146K,T168I,W73R" "0,0,0,0,0,0" 285852 12958 sw6298;dbsnp4217 CLC9A_HUMAN;NP_997228.1 "A107G,A16T,R185C,R238K,S204P,V127F" "0,0,0,0,0,0" 283420 12097 sw6299;dbsnp20962 TM14E_HUMAN;NP_001116700.1 L82P 0 645843 14328 sw629;dbsnp8687 SGSM2_HUMAN;NP_001091979.1 "A775V,C50F,C79S,D968V,G209C,G2S,H329R,H641Y,H87Q,I784T,L63M,N807S,P217R,P472L,P763L,R110W,R238K,R244S,R374Q,R622Q,R64C,R959Q,T789P,V312I,V319M,V698M,V996I,Y416C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9905 1893 sw6300;dbsnp23045 F151B_HUMAN;NP_991111.2 "E118Q,I155T,R126H,S96I,T85A,V109A" "0,0,0,0,0,0" 167555 11346 sw6301;dbsnp8660 ABH15_HUMAN;NP_937790.2 "G147D,P97R,R413Q,R448Q,R448W,S152T,S429N,T302A,T334A" "0,0,0,0,0,0,0,0,0" 116236 7238 sw6302;dbsnp9250;dbsnp9251 TMM92_HUMAN;NP_694961.2;NP_001161687.1 "A4T,G130D,S90N,S90T" "0,0,0,0" 162461 13743 sw6303;sws740;dbsnp25096 GFRAL_HUMAN;NP_997293.2 "C101G,E256K,E29Q,M370T,P217R,Q184R,R120L,R33C,S222G,S387P,T295N,V108M" "0,0,0,0,0,0,0,0,0,0,0,0" 389400 8702 sw6304;dbsnp11565 IZUM2_HUMAN;NP_689571.2 "R139C,R171C" "0,0" 126123 12509 sw6305;dbsnp30187 ITIH6_HUMAN;NP_940912.1 "A1026S,A1290V,A996D,D357N,E1095K,E692K,F324Y,G1170A,G387R,G464V,I852T,I908L,M37V,P1025T,P212A,P948L,R1240H,R1264K,R1297C,R131C,R154W,R43H,R440L,R446P,R450Q,R561C,R580H,R585C,R834Q,S11T,S206T,S292N,S677F,T396M,T696S,T754M,V97G,W1041S,Y702N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347365 1140 sw6306;dbsnp27360 RSPO2_HUMAN;NP_848660.3 "A133V,E66D,G205E,H149L,L186P" "0,0,0,0,0" 340419 12051 sw6307;dbsnp7815 TMC5_HUMAN;NP_001098718.1 "A355T,A413D,A520E,F792I,I729T,I837F,M547I,P72A,R380K,R415W,S20P,S285I,S328N,S411Y,S967T,T608M,V283M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79838 2086 sw6308;dbsnp8650 CLM4_HUMAN;NP_001108624.1 "R158S,S6A,T139A,V89M" "0,0,0,0" 100131439 11096 sw6309;dbsnp27462 UNC5D_HUMAN;NP_543148.2 "D914G,R219K,R433H,R728K,V390I" "0,0,0,0,0" 137970 2319 sw630;dbsnp8678 ZZEF1_HUMAN;NP_055928.3 "A2327V,A2421T,D1851V,E1073K,E2369Q,E2498Q,F447L,G2309E,G2833D,H1256Y,H1597R,H1951Y,H2423P,I1021V,I2014V,I397M,K427R,L159I,L1959P,L1972P,L2303P,N193Y,N2475S,N351S,P1691R,P2051S,P869S,Q2086R,Q2232L,R1035C,R1459H,R1929H,R2440W,R2909L,S1437A,S1971I,T2795M,T2925A,T2925M,T345M,T563S,V30A,V959A,Y2301H,Y255C,Y356C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23140 152 sw6310;dbsnp20488 LRC31_HUMAN;NP_079003.2 "A324E,E300K,L322F,L378F,S44F,T58I" "0,0,0,0,0,0" 79782 5807 sw6311 CEA20_HUMAN T87I 0 125931 5188 sw6312;dbsnp25411;dbsnp25412 DLK2_HUMAN;NP_996262.1;NP_076421.2 "A84G,D233N,D261V,G301R,L326M,L367H,P364Q,R181W,R219H,R334Q,S240N,T159M" "0,0,0,0,0,0,0,0,0,0,0,0" 65989 8927 sw6313;dbsnp15163;hgmd0613_1914 ATL4_HUMAN;NP_061905.2 "A193P,A969D,D849E,E44K,G208S,G336D,G730C,H785R,L769V,L78F,M838V,P128S,P195L,P381R,P763L,P763R,Q227K,R1028H,R1060H,R147Q,R250Q,R307Q,R309Q,R470H,R637W,R781C,R801W,R896Q,R901H,R98W,S1026R,S268F,S696L,S760L,T223S,T990M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54507 1804 sw6314 LEU7_HUMAN A83V 0 220107 12510 sw6315;dbsnp21779 FAT4_HUMAN;NP_078858.4 "A2368E,A4718G,A4886G,A4977T,A807V,D2672V,D2826N,D4283N,D4327G,E1134D,E4255K,E4374K,G3524D,G62A,H3215Y,H3808R,I1435V,I1759V,I2946V,I3462V,I3602L,I4112M,K1996R,K2160E,K3828E,L2594S,L3731P,M3518I,N2351S,N2762H,P1079L,P1851L,P247T,P4972S,Q1228E,Q1257E,Q1991K,Q453L,R175L,R2840H,R3522W,R4022Q,R4022W,R4214H,R4726K,R4887K,R606T,S2420C,S2451I,S2624R,S3752G,S3800F,S3873N,S4456L,S4710C,T1866M,T2032A,T2244M,T2409S,T2939A,T3616M,V1407I,V2017A,V2245I,V4471I,V806M,V986D,Y1931C,Y3199C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79633 34 sw6316;dbsnp614;hgmd0613_2452 CP26C_HUMAN;NP_899230.2 "A208P,G16A,H256Q,L106V,L255V,R238Q,R245Q,T62S,V498M" "0,0,0,0,0,0,0,0,0" 340665 6257 sw6317;dbsnp21845 PCD23_HUMAN;NP_060109.2 "A1151T,A1171V,A1521S,A1891G,A2743T,A479T,A61V,A768V,A867P,C47R,D1609N,E12K,E1595K,E1595Q,E1624K,F1588S,F2143L,F2425S,G1842D,G2160S,G2265R,G99R,H174R,H2633Y,H441Q,I1412T,I1703V,I1826F,I1885K,K2475R,K278E,L1059F,L136P,L843V,M1530V,M604I,M633I,N1615S,N2522H,N833S,N897S,P2614L,P2676L,P2824A,P2842L,P870L,Q1639R,Q648H,R1347Q,R1438L,R1438W,R2237C,R2237H,R2563S,R2589W,R503L,S1205L,S1546P,S2117A,S2303N,S344L,T1480R,T1518P,T1701I,T2112M,T2578I,T2731I,T2881M,T371A,V1461I,V153A,V1680I,V1693M,V170M,V2007A,V2203I,V447A,V451L,V470G,V573F,V827I,V852G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54798 1034 sw6319;dbsnp12256;dbsnp12257 ZN562_HUMAN;NP_001123504.1;NP_001123503.1 "E238D,E260K,F134S,F153L,F178L,F185S,K205E,R98W,V193A" "0,0,0,0,0,0,0,0,0" 54811 6908 sw631;spmut151;dbsnp18609 ASAP2_HUMAN;NP_003878.1 "A489T,E748D,F681L,L614P,M927V,P786L,P786R,P868L,P931S,T431M" "0,0,0,0,0,0,0,0,0,0" 8853 1633 sw6320;spmut1194;dbsnp3706 MCAF1_HUMAN;NP_060649.3 "E278K,G147R,K530R,M573I,N311S,N348I,N514K,N529S,P1011S,P1071S,P129A,Q883K,R1188Q,R857K,S502L,S734N,S837P,T758A,T860A,V681A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55729 1231 sw6323;dbsnp2434;hgmd0613_1862 PACS1_HUMAN;NP_060496.2 "F302L,K313R,K840N,M657L,N715S,R733Q,V129I,V213M,V499L,V499M,V548M" "0,0,0,0,0,0,0,0,0,0,0" 55690 2265 sw6324;dbsnp3644 DPPA3_HUMAN;NP_954980.1 "E51Q,L56V,Q158R,S134G" "0,0,0,0" 359787 13744 sw6326 GDPD4_HUMAN N396K 0 220032 4866 sw6327;dbsnp2251 MUC6_HUMAN;NP_005952.2 "A1640S,A1704P,A1706V,A2325T,A364T,E431K,F1978I,G1413R,G395R,G534S,H1528Q,H1534L,H1607L,H1750R,H1833Q,I1502M,I1857T,K1597Q,K1941N,L1673P,M1648T,M1872T,M2064I,N1179S,N1476I,N1548K,N1562T,N1937T,P1364T,P1501T,P1578S,P1613L,P1634H,P1716S,P1794T,P1873Q,P1906L,P1919H,P1963T,P2049L,Q1735H,Q1821H,R1553G,R1555G,R1555S,R2352W,R87Q,S1642P,S1708P,S1768N,S1768T,S1958T,T1498I,T1670P,T1806S,T1807S,T1822A,T1854M,T1861A,T1861P,T1911M,T1922I,T1964I,V1616I,V1761A,V2046I,V619M,V876I,Y1826D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4588 264 sw6328;dbsnp25966 NPSR1_HUMAN;NP_997055.1 "A134T,C197F,C197W,G66R,I315T,I371V,N107I,Q344R,R122Q,R146S,R354Q,S143G,S241R,S47Y,T18M,T212I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 387129 9060 sw6329;dbsnp9128 MPRIP_HUMAN;NP_958431.2 "A657T,D1001E,E525K,L599V,P286L,P327Q,R549H,R698W,R705K,S328C,S790T,T123M" "0,0,0,0,0,0,0,0,0,0,0,0" 23164 1949 sw632;dbsnp19377 TET3_HUMAN;NP_659430.1 "M1119V,P1247T,P294S,R577Q,T411I,V455M" "0,0,0,0,0,0" 200424 680 sw6332;dbsnp2088 HEPN1_HUMAN;NP_001032647.2 "H61L,W37R" "0,0" 641654 14774 sw6333;dbsnp20511 IGS10_HUMAN;NP_849144.2 "A1194T,A2249D,A2406V,A252V,A748T,D1488N,D1802V,D2277G,D2614N,D795N,E142D,E161K,E2368A,E574K,E960Q,F1325L,F186L,F2002L,G2394S,G588S,G709V,H2579Y,I1192V,I1311V,I1436T,I1536T,I1583T,I1904L,I2153V,I2187T,I2420T,I2523T,I458V,K1246T,K1286E,M1594I,M664T,N1705S,N1954Y,N2082S,N349S,N58S,P1704S,P1997L,P461L,P571S,P746R,P787L,Q1348K,Q667K,Q888P,R1009C,R1021Q,R1032Q,R118Q,R1355S,R156H,R156L,R1684T,R2216Q,R2476W,R722Q,R826S,R826T,S1199A,S1396F,S1879A,S292N,S843C,T1238A,T124I,T1266S,T1370I,T1538I,T486I,T590P,T951K,V1490M,V1522I,V1995I,Y150D,Y1875H,Y2045H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285313 208 sw6334;dbsnp3277 CL054_HUMAN;NP_689532.1 "L89W,M66L,P86S,R62W" "0,0,0,0" 121273 14295 sw6335;dbsnp26730 SOSD1_HUMAN;NP_056279.1 "N135S,Q189H" "0,0" 25928 12831 sw6336;dbsnp29117 NELF_HUMAN;NP_001124441.1 T480A 1 26012 6127 sw6337;dbsnp9445 ZPBP2_HUMAN;NP_955353.1 "A118T,D161G,E196V,F256I,H197Y,I205M,K114N,K284E,M1T,P68A,Q19K,Q335E,S173I,T69I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124626 9947 sw6338;dbsnp20653 FBW12_HUMAN;NP_996985.2 "A287T,A82G,D431N,E398K,H238R,M186V,P6L,R166Q,R166W,S121N,T99K,T99M,V273D" "0,0,0,0,0,0,0,0,0,0,0,0,0" 285231 7323 sw633;dbsnp5982 FLRT2_HUMAN;NP_037363.1 "A222G,A503V,G153R,G538S,L107I,L133V,R280Q,R486Q,S23F,S392G,T407M,T435S,V350I,V67I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23768 4479 sw6340;dbsnp14635 RPTN_HUMAN;NP_001116437.1 "A108T,D237Y,D455H,D563N,E707G,G159S,I57N,K163R,L9F,R154G,R230Q,S161P,S320G,S485F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126638 3323 sw6341;spmut2201;dbsnp5028 TPTE2_HUMAN;NP_954863.2 "G377A,H174R,I444V,K39E,L33R,M231V,P475S,R227C,R400G,S434L,S434W,V298M,V367I,V50A,Y272C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93492 5822 sw6342;dbsnp27391 PNCB_HUMAN;NP_660202.3 "A57V,D323G,D411N,E443Q,L305V,R156C,R332C,R73Q,T416K,T416M,V303A,V353I,V400M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 93100 6011 sw6343;spmut552;dbsnp14102 DUSTY_HUMAN;NP_056190.1 "C641R,D926Y,G71S,I909T,K328T,L432V,L64F,L86Q,R154H,R592Q,R736W,R739W,S916F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 25778 2437 sw6346;dbsnp4238 SYT10_HUMAN;NP_945343.1 "A505V,F339L,H488P,K113N,S172I,T420S,V124I,V124L" "0,0,0,0,0,0,0,0" 341359 6236 sw6348;dbsnp465 DNMBP_HUMAN;NP_056036.1 "A878V,C1413W,D165E,E265K,E2K,E598K,E81D,G1380S,G435R,H339R,K661R,L732V,M1070T,M831T,N1297S,N373K,N914K,P1424L,P1463L,P22L,P477L,P612L,P820L,R1052W,R1101Q,R1256H,R1467Q,R288K,R703W,S466A,S482C,S550L,S593L,T1382I,T1462M,Y1518C,Y479C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23268 755 sw634;dbsnp16148 TTI1_HUMAN;NP_055472.1 "A162T,A534S,A671V,A979T,D285N,E250K,G366C,I415T,I445T,K751E,L370V,L526F,L576P,R1028K,R450H,R519Q,R707L,R869C,S402F,T596M,Y697H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9675 1754 sw6351;dbsnp2623 S36A4_HUMAN;NP_689526.2 "A322V,D344Y,F329C,H330R,I378V,L144P,L209I,L354V,L429I,P376H,Q180H,R152W,R302C,S114R,S139G,S195N,T162A,T479A,Y368C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120103 6581 sw6353;dbsnp18862;dbsnp18863 THADA_HUMAN;NP_001077422.1;NP_071348.3 "A1007G,C1605F,C1605S,C1605Y,C1668G,C1668R,C1668S,C1869S,E1618Q,E442D,E63G,F431L,I1842V,L1443F,P1451S,R1353S,S697C,S823L,T1187A,T1385A,T1385S,T351A,V196I,V699I,V699L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63892 450 sw6354;dbsnp15321 KAT3_HUMAN;NP_001008661.1 "I212T,I26M,L154P,L380Q,P382L,R331C,S206P,S23F,T215I,V412I,W326C" "0,0,0,0,0,0,0,0,0,0,0" 56267 7504 sw6355;dbsnp26379 T184A_HUMAN;NP_001091089.1 "A18V,A229T,A66G,G39E,S317F,S390G" "0,0,0,0,0,0" 202915 8314 sw6356;spmut1938;dbsnp10457 SIG15_HUMAN;NP_998767.1 "F141L,F273L,G217C,S178G,S178R" "0,0,0,0,0" 284266 10192 sw6357;sws743;dbsnp9463 SPNS3_HUMAN;NP_872344.3 "A239T,A269T,A330S,A458T,A47G,A7V,E237K,E287K,G236R,G293R,P41L,P512R,R110C,R172C,R442C,R444P,R477W,S150L,T352I,V166M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 201305 6441 sw6358;dbsnp6883 GLDN_HUMAN;NP_861454.2 "A521T,A90V,D351N,K405T,L158V,P140L,P147L,P279R,R262Q,R455K,S141N,S265N,T283I,Y367H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342035 5823 sw6359;dbsnp27913 SCAR5_HUMAN;NP_776194.2 "A119V,A131V,A304V,A45T,D316H,N3S,R43W,R471H,T174M" "0,0,0,0,0,0,0,0,0" 286133 6744 sw635;sws65;spmut1576;dbsnp20927;dbsnp20928 PLXB1_HUMAN;NP_001123554.1;NP_002664.2 "E348K,L810F,M1293T,P1326L,P1346H,P396S,P435S,R1031C,R1087C,R1171H,R1747H,R272H,R331Q,R389W,S310L,S454R,S722L,S753L,V1487M,V219A,V219M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5364 366 sw6360;dbsnp7776;dbsnp7777 IL34_HUMAN;NP_001166243.1;NP_689669.2 "E123Q,E238K,G16A,G239S,P232L,S195T,V17M,Y57H" "0,0,0,0,0,0,0,0" 146433 12075 sw6361;sws744;dbsnp3306 PZRN4_HUMAN;NP_001158067.1 "A442D,A573E,C624R,E517K,E808K,G429S,I652T,K531E,K636Q,K821R,L766F,R350H,R421Q,R51L,R638Q,R754C,S974N,Y833C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29951 1839 sw6362;dbsnp23543 CCNI2_HUMAN;NP_001034869.1 "A91P,A95T,F166S,F255L,L247P,P268T,P57L,S342N,S357P" "0,0,0,0,0,0,0,0,0" 645121 9219 sw6363;sws745;dbsnp9298 LMTK1_HUMAN;NP_001073864.2 "A1332T,A541T,E1160K,E407Q,F1266S,G703C,P1192S,P884L,R793S,S27F,S815R,S923L,T118M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9625 1025 sw6365;spmut1060;dbsnp26158 KDM7_HUMAN;NP_085150.1 "D392Y,D596Y,D799G,H794Y,N705S,N873K,R644C,R644S,R839S,V535G" "0,0,0,0,0,0,0,0,0,0" 80853 2386 sw6366;dbsnp21886 DTHD1_HUMAN;NP_001164171.1 "A24S,G26R,G78V,K277N,K316N,L176Q,M487T,M487V,P663T,R246H,R423W,R552C,R557Q,R662H,R704S,R749H,T121A,V179D,V184G,Y608H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401124 3353 sw6367 C3P1_HUMAN "D230N,D251G,L262R,Q172R" "0,0,0,0" - 9340 sw6369 ZN730_HUMAN G365E 0 100129543 1203 sw636;dbsnp2004 RRP8_HUMAN;NP_056139.1 "A145P,E232G,K77Q,M347I,P25S,P329S,P340A,R191W,R298P,R321H,R38C" "0,0,0,0,0,0,0,0,0,0,0" 23378 7462 sw6370;sws746;dbsnp24298 KIF6_HUMAN;NP_659464.3 "A492D,E353D,E665G,G787R,I63V,L351R,M301V,M522L,N328Y,P510S,R113H,R363C,R512H,R551K,R613W,S35G,V73I,W719R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221458 3117 sw6371;dbsnp28826 ZN782_HUMAN;NP_001001662.1 "C375R,C567Y,E20D,E219Q,G680R,M490I,N246S,Q146H,R130P,R165H,R321H,S376P,S491A,T210S,T289A,V45I,Y271C,Y366C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158431 3138 sw6372;sws747;dbsnp14228 SPOC1_HUMAN;NP_653170.3 "A1157V,A773T,C136Y,G50R,G813R,I606V,L249V,P1089S,P1176S,P189L,P289R,Q355R,R233H,R436W,R625Q,R71W,R92Q,T109A,T291I,T349A,T778M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90853 1372 sw6373;sws748;dbsnp11932 WDR88_HUMAN;NP_775750.3 "A104T,A171G,C310R,C440S,D206E,E416K,F95L,R355Q,R355W,S372I,T107P,T429N,V224I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 126248 7166 sw6374;dbsnp27604 ZN517_HUMAN;NP_998770.2 "A241D,A241G,E477Q,G211R,L31R,P6L,S29R,S64Y,V181M" "0,0,0,0,0,0,0,0,0" 340385 6808 sw6375;dbsnp5759 SYNE3_HUMAN;NP_689805.3 "A683D,A923V,A927V,A92S,A956S,E488D,H650Q,I946V,K670M,K700N,N771I,N958S,P559T,P55S,R220Q,R288Q,R328W,R377C,R391W,R394W,R675Q,R741S,R864H,R911W,S379L,S892F,T33M,T497M,T668M,V61L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 161176 2208 sw6377;dbsnp11500 ZN813_HUMAN;NP_001004301.2 "A62T,D93V,E78G,I168F,K552N,N593H,P606S,R231K,R568C,S146L,Y192C,Y439F" "0,0,0,0,0,0,0,0,0,0,0,0" 126017 2403 sw6379;sws749;dbsnp29568 M3K15_HUMAN;NP_001001671.3 "A192T,A628T,A876G,D226H,D448V,D956N,G365W,G786R,G838S,G949S,H1218Q,H706P,I1052T,I841V,M274V,N1029H,P744L,P850L,P995L,Q1125L,Q1251E,R1302S,R494C,R508Q,R554K,R918Q,S199N,S456G,S691F,S993L,T1276P,V710F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389840 1026 sw637;dbsnp22997 PJA2_HUMAN;NP_055634.3 "A402T,A687T,A688V,A705T,D130H,D130N,D465E,E176G,K449R,M49V,Q297R,S494F,Y168C,Y422C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9867 3995 sw6380;dbsnp26030 MACC1_HUMAN;NP_877439.3 "A151V,A352G,D428E,D790N,E689A,E728A,E755K,G582R,H798D,H798Y,I14M,I37S,I380T,K321Q,L31V,L646M,M783R,N819Y,P356L,P356Q,P50L,R10W,R132I,R190C,R759Q,R804T,S515L,V555L,V652F,W68C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 346389 2883 sw6381;dbsnp28781 BNC2_HUMAN;NP_060107.3 "A1006V,A923V,D911E,D930G,G797R,G922D,G995R,H768Q,I601V,I920M,I974V,L414V,L550V,L908P,L908R,M429I,P306A,P33L,P382A,P606L,P623H,R720Q,R913H,S22G,T56R,T587A,T782A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54796 1717 sw6382;dbsnp14607 ETV3L_HUMAN;NP_001004341.1 "A264V,E31K,G15S,G263A,H56L,L79F,M318V,P130R,P237L,R151Q,R151W,R335H,R55H,S199R,S19A,S231F,S32L,T183S,T190A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440695 9389 sw6383;dbsnp7750 DEFI8_HUMAN;NP_997397.1 "A283V,A475T,L35I,N188S,Q90E,R201C,S247F,V417M,W18R" "0,0,0,0,0,0,0,0,0" 54849 6442 sw6384;dbsnp11551 ZN574_HUMAN;NP_073589.4 "E492G,G433D,M102L,P419L,P705T,Q245H,Q68R,R291C,R291H,R332Q,R490Q,R650Q,R785Q,S298N,T711S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64763 2632 sw6385;dbsnp23647 ZFP2_HUMAN;NP_085116.2 "I347V,N301K,Q113H,Q274P,Q289R,Q457E,R142G,R458I,T461M,V358M,V70A,Y312C,Y410C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 80108 2403 sw6386;dbsnp13188 GBP6_HUMAN;NP_940862.2 "A203T,A302V,A331S,A365S,A408D,A573T,D520V,D598Y,E254G,E443D,E471K,E99K,F172C,G102D,L344F,M355R,M355V,M581V,N24K,R159S,R48C,R523H,T278I,T348M,T70M,V11I,V163A,V300L,V428F,V83M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 163351 4696 sw6387 D19P2_HUMAN "M66V,N333I" "0,0" - 3536 sw6388;dbsnp4052 Z705A_HUMAN;NP_001004328.1 "A83T,E68K,H166Y,H2P,K142Q,P143R,R134C,R154H,R186H,R189W,T126A,T223K,T223M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 440077 6583 sw6389;dbsnp1537 CCD81_HUMAN;NP_001149946.1 "E198A,E443K,H303Q,H370Y,K258Q,K610E,L558R,M140V,P500A,P500H,Q551H,R414Q,R455S,R575Q,R621P,R649W,S417I,T291N,Y449C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60494 4569 sw638;sws66;dbsnp5933 SI1L1_HUMAN;NP_056371.1 "A14P,E1410D,F929L,H351R,I1185T,I266V,L914V,M1089I,M386L,M386V,N882S,N898S,P1256S,P56T,P57H,R1042L,R1578Q,R40Q,R6Q,T143I,V1002L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26037 557 sw6391;dbsnp11175 ZN836_HUMAN;NP_001096127.1 "E355G,E99D,G644S,M219I,N809S,R11G,R293W,R902H" "0,0,0,0,0,0,0,0" 162962 2403 sw6393;dbsnp22280 NFXL1_HUMAN;NP_694540.3 "A601V,G690R,P246L,P459A,Q134H,R140C,R432C,R569H,S177L,T907A" "0,0,0,0,0,0,0,0,0,0" 152518 2550 sw6394;dbsnp26419 ALKMO_HUMAN;NP_001004320.1 "A419T,D9V,F279L,F371V,G144R,G238C,I200F,I337L,I337M,I426V,L395V,P218L,P326L,Q31R,Q8E,R133C,S151F,S280Y" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 392636 7668 sw6395;dbsnp27670 ZN704_HUMAN;NP_001028895.1 "A170V,A35S,P351L,V105M" "0,0,0,0" 619279 8338 sw6396;dbsnp24651 MBOA1_HUMAN;NP_001073949.1 "F412L,I336T,I450V,I97V,L54S,M115I,P279L,R55G,T100S,T370M,Y19C" "0,0,0,0,0,0,0,0,0,0,0" 154141 6297 sw6397;dbsnp5983 BAKOR_HUMAN;NP_055739.2 "A461V,L141I,N131K,V59I" "0,0,0,0" 22863 6809 sw6398 ZN600_HUMAN "C209R,M2V,T13R" "0,0,0" 162966 2403 sw6399;dbsnp3808 DBX2_HUMAN;NP_001004329.2 "G319C,I279V,M171V,R157W,S179C,V339I" "0,0,0,0,0,0" 440097 9925 sw639;dbsnp24735 ZBT24_HUMAN;NP_055612.2 "A518T,A53V,C408G,D558N,E244K,E244Q,G568S,I563T,M584L,R413C,R49Q,V354M" "0,0,1,0,0,0,0,0,0,0,0,0" 9841 4098 sw63;dbsnp21760 T131L_HUMAN;NP_056011.3 "A1392P,A598T,A836T,A969T,C1082R,D292G,D326N,D553G,H279D,I604V,I648F,M645T,M715V,N1116I,N1254D,N1254S,N768I,P1573L,P45R,R1319W,R418C,R753H,R842C,S1110Y,S1173C,S176L,T1590P,T339A,T991A,V1065I,W871R,Y1125C,Y249C,Y789H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23240 722 sw6400;dbsnp8639 KRBA2_HUMAN;NP_998762.1 "A302V,D275N,I204T,K290N,M212K,N424I,P93S,Q454E,R158H,R427W,S273R,S68N,T435M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 124751 6810 sw6401;dbsnp11980;dbsnp11981 ZN497_HUMAN;NP_940860.2;NP_001193938.1 "C307W,E222A,G105C,H174Q,H492Q,R453L,S228R" "0,0,0,0,0,0,0" 162968 6698 sw6402;dbsnp16325 GCNT7_HUMAN;NP_542182.1 "C18R,C53R,D267E,D352E,G61E,N425H,P269S,R339G,R343W,R430H,Y150C" "0,0,0,0,0,0,0,0,0,0,0" 140687 7944 sw6403;dbsnp20430;hgmd0613_1735 NBEL2_HUMAN;NP_055990.1 "A1597T,A1856T,A1877G,A786T,E1833K,E2747K,E643V,G1403D,G2553E,H2263Y,I682F,I86V,L388P,P2100L,R1456H,R156H,R1614H,R1660C,R1839C,R2530Q,R386G,R447H,R511G,S2054F,S2269L,W677R" "0,0,0,0,1,0,1,0,0,1,1,1,1,1,0,0,0,0,1,0,0,0,0,0,1,1" 23218 183 sw6404;dbsnp20431 FGD5_HUMAN;NP_689749.3 "A515T,A828T,D180E,D193N,D43E,E941K,E941V,G1361A,G403R,H600Y,P1427S,P634A,Q204H,R102C,S1342P,S1342T,S177N,V979I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152273 881 sw6405;dbsnp27851 LRC69_HUMAN;NP_001123362.1 "P267S,Q45H,T64I,V299I" "0,0,0,0" 100130742 9736 sw6406;dbsnp6750 GDPP1_HUMAN;NP_001013679.2 "A53T,E9K,G241E,K113R,K68E,M37T,P264T,Q385H,R137H,R260H,R79H,S271R,T307I,W164C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390637 8891 sw6407 RBM44_HUMAN D51H 0 375316 1892 sw6409;dbsnp18110 TM182_HUMAN;NP_653233.3 "E100K,I208M,W223R" "0,0,0" 130827 12340 sw640;dbsnp10462 SIA8C_HUMAN;NP_056963.2 "K91T,S253T" "0,0" 51046 8970 sw6411;dbsnp11736;dbsnp11737 D19L3_HUMAN;NP_997208.2;NP_001166245.1 "A283T,G667D,I10V,I520V,L440F,M350V,P237L,V449M" "0,0,0,0,0,0,0,0" 147991 3909 sw6412;dbsnp11630 WDR87_HUMAN;NP_114157.3 "A1499S,A1655V,A2537V,A2657T,A513T,D418N,E1362G,E1419A,E1543V,E2131K,E2342D,E2789K,E383K,G1384E,G602A,H1192N,H1339Y,H2225Q,H2449R,H2570L,H463L,H496Y,H705R,K1064Q,K2061R,K2149E,L126P,L217F,L647H,M1420V,M1450T,M1791K,M2160I,M2230I,N1885K,P1311L,P1316S,P2781L,P2826L,Q2819R,Q820P,Q899E,R1019Q,R1033G,R1583Q,R1949W,R2109H,R2141Q,R2141W,R2701H,R2737Q,R2737W,R2834S,R2843Q,R340Q,R351H,R457Q,R92Q,S1161L,S451A,S859G,S859I,T1868N,T2084N,T2464A,Y837H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83889 162 sw6413;sws750;dbsnp28875 CI171_HUMAN;NP_997300.1 "G105S,G137R,G282D,K244Q,L128P,P198H,P32L,P61L,R172G,R184H,R191Q,R294C,V267M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 389799 10393 sw6417 YV012_HUMAN "G3R,R77C" "0,0" 400891 8775 sw6418;dbsnp20593 DYH12_HUMAN;NP_848599.3 "A1193S,A1437T,D1549N,D224E,D286V,F1600S,F332L,G2503V,G2893S,G2995R,H1545L,H1545Y,I1749V,I30T,I53S,I854V,I869F,K1754N,L183I,L2622F,M119T,M211T,M578R,N1308S,N187D,N298S,N54T,N766S,P165Q,P2478L,Q2390R,R1062L,R1207C,R1309G,R1568T,R1748C,R1748H,R1943C,R777H,S139N,S2745N,S857L,T1763I,T231A,T3076A,T467P,V1206I,V1275M,V32A,Y1704H,Y2740F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 201625 135 sw6419;dbsnp3380 PKHG7_HUMAN;NP_001004330.1 "D18N,D99G,E157V,F244V,L217M,M212T,Q279K,Q279R,R115Q,R326S,R8K,S93T,T253M,T34S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440107 8999 sw6420;dbsnp11642 ZN493_HUMAN;NP_787106.4 "G10V,H44R,L18S,M65L,N45D" "0,0,0,0,0" 284443 1203 sw6421;dbsnp30004 ZCH16_HUMAN;NP_001004308.2 "A150V,D162Y,F184L,H60R,I213V,L27P,N204D,R260Q,R291K" "0,0,0,0,0,0,0,0,0" 340595 10651 sw6422;sws751;dbsnp22129 CD050_HUMAN;XP_003118572.1 "A187T,E87Q,G227R,G36S,I177V,K63E,M1L,P271L,R17P,R3W,R83W,R86W,S263G,S263R,T201M,T212I,V199L,V199M,V213L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389197 11347 sw6423 ZN818_HUMAN E14K 0 - 14149 sw6424;dbsnp13098 RN207_HUMAN;NP_997279.2 "A275V,A421T,A46T,A577T,A95V,G603A,N573S,Q439H,Q533K,Q620K,R539C,T381M" "0,0,0,0,0,0,0,0,0,0,0,0" 388591 4749 sw6425;dbsnp11409 CTSRG_HUMAN;NP_067008.3 "D740N,E1002K,G954R,G954W,I737V,L276P,L29P,L363F,M1137T,N595T,P1149S,P877S,R212Q,R659L,S650R,T1042M,T618P,T985M,V1076M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57828 1528 sw6426;dbsnp1579 OTOG_HUMAN;XP_291816.8 "A1112V,A1146T,A1375P,A1399G,A1832V,A2006V,A2037V,A2271T,A242T,A2593V,A318D,A360T,A391D,A881D,A919T,C2920Y,D2635N,D2721N,D812N,D813G,E225D,F463L,F478C,G145S,G2456S,G850R,H1072Y,H312R,I2361V,K2842N,L1548F,L1794P,L2735P,L814Q,M1935T,M273I,N459S,P1001L,P1129L,P1240L,P1646L,P1647L,P732S,Q2194H,Q2463H,Q2621K,R1075Q,R1237H,R1350W,R1353Q,R1425Q,R1428Q,R1602S,R1624H,R1763H,R2072H,R2096W,R2310H,R2365C,R2479H,R2524H,R2556Q,R2750Q,R2802H,R2838C,R2897C,R441W,R44Q,R579Q,R626W,R920L,S2241N,S692P,T1947M,T1955M,T2794M,T375S,T621M,T659M,V2121A,V2345M,V269I,V307M,V767I,W2909S,Y989C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340990 157 sw6427 CO039_HUMAN "A119P,G491D,G945D,S536A" "0,0,0,0" 56905 1913 sw642;dbsnp24066;hgmd0613_950 NDUS4_HUMAN;NP_002486.1 "A2E,K151R,R16Q,S5P,T174P,V27D" "0,0,0,0,0,0" 4724 13454 sw6431;dbsnp29009 QSOX2_HUMAN;NP_859052.3 "A280V,A461V,A649T,G207D,K126E,K295R,M466V,R116H,R190C,R422Q,R524W,T352M,V441A,V609I,V666M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 169714 4090 sw6432;dbsnp24596 MMS22_HUMAN;NP_940870.2 "A1143T,A711P,A7P,E917D,F577L,G368R,H1192Q,H502L,I1027T,I420T,I511V,I620V,I826V,M911V,N419D,P1015L,P1152L,R708H,R858S,S759P,T564M,T667A,V393I,V814I,V875A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 253714 1302 sw6433;sws752;dbsnp26407 CC129_HUMAN;NP_919276.2 "A32D,A481V,A490V,A497D,A549P,C642R,C808W,C809Y,D1039N,D537E,D988N,E908G,G355E,G817R,H377R,H887Y,M979T,N769K,P1017S,P1034R,Q756R,R181C,R201H,R914H,S220G,S596F,S861Y,V783I,Y89C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 223075 1849 sw6434 FA83H_HUMAN Q201H 0 286077 1483 sw6435 DMP46_HUMAN L147V 0 - 12530 sw6436;dbsnp12111 RINL_HUMAN;NP_940847.1 "D134E,E137D,G68W,H84R,P102L,P105R,P288L,R329Q,T197I" "0,0,0,0,0,0,0,0,0" 126432 5606 sw6437;dbsnp21261 ZN662_HUMAN;NP_997287.2 "G216R,H382R,I297L,N176S,N391K,P79R,P84L,R265H,R409C,S112A,T292M,W117S" "0,0,0,0,0,0,0,0,0,0,0,0" 389114 7564 sw6438;dbsnp273 WDFY4_HUMAN;NP_065996.1 "A1301V,A1833S,A1938V,A2204T,A2505V,A2657T,A3022T,C2226Y,C234Y,D2501E,D502E,E1138D,E2158D,E2158K,E2420K,G1342R,G1572R,G2034S,G2428A,I3039V,K2591E,K356N,L2839M,M1734T,M198I,M1993T,P3117S,P3118L,P983L,Q2382H,R1097C,R1702C,R1816Q,R2211W,R229Q,R2434C,R2469Q,R2502Q,R2975Q,R418Q,R638C,S1528P,S214P,S2181P,S2527N,S2838R,S37P,S944F,T1529S,T2525P,T2676M,T276M,T278I,T553S,T938I,V133M,V1359I,V1677M,V1837A,V2688I,V2718M,V795A,Y2053H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57705 124 sw6439;dbsnp10833 R9BP_HUMAN;NP_997274.2 "A223V,A91E,A96S" "0,0,0" 388531 12225 sw6440;dbsnp21840 ZBT49_HUMAN;NP_660334.3 "A292T,A348T,A396T,A642V,C294R,E346K,E609K,G650S,G663R,G701D,M682T,P627A,R217I,T251M,T373M,T556A,V122L,Y320S,Y652C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 166793 3474 sw6441;dbsnp19277 RBM43_HUMAN;NP_940959.1 "A12D,A12G,I259V,I335V,K134N,R194K,T240I,T94I,V34L" "0,0,0,0,0,0,0,0,0" 375287 9491 sw6442;dbsnp734 F196A_HUMAN;NP_001034851.1 "A147V,A339V,C313G,D221N,F175S,G226R,N140K,P201L,P448T,R232P,R232Q,R73W,R85H,T117M,V99I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 642938 7021 sw6443 CP085_HUMAN E145D 0 - 13973 sw6444;dbsnp12002 CAN12_HUMAN;NP_653292.2 "A112T,C287R,C597W,D310N,D91V,G190S,G210A,G351R,G351W,G605R,H606Y,L571F,N174D,R196Q,R229C,R28Q,R667C,R679Q,S226F,T334A,T665P,V168M,V211M,Y249N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147968 3881 sw6445;dbsnp18896 MFSD6_HUMAN;NP_060164.3 "A758T,E777A,I54T,P180S,P754S,R164C,R205G,T190S,V255I" "0,0,0,0,0,0,0,0,0" 54842 3279 sw6446;dbsnp29066 LCNL1_HUMAN;NP_997393.3 A68T 0 401562 13643 sw6447;dbsnp29961 PPR3F_HUMAN;NP_149992.3 "D593G,F351S,G683D,R165H,Y265C" "0,0,0,0,0" 89801 3219 sw6448;dbsnp11412 ARHGI_HUMAN;NP_001124427.1 "A1033T,A1075V,A1122T,A705T,D968N,G1140R,G181R,G658S,I426L,I446V,L379V,N1019S,P169Q,P220S,Q701R,R113C,R276Q,R325C,R670H,R752Q,S798L,Y265F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23370 1496 sw644;sws67;dbsnp468 ADA12_HUMAN;NP_003465.3 "D787E,E66K,G48R,G48W,G519S,G712E,G878E,I908V,K170R,L889V,M662V,N597S,P888S,P893S,R176W,R297H,R71Q,S499T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8038 2566 sw6450;dbsnp21959 TBCD9_HUMAN;NP_055945.2 "E779K,E7K,I906V,N1045S,Q327H,R853W" "0,0,0,0,0,0" 23158 1240 sw6451 ZN826_HUMAN C148Y 0 - 13414 sw6452 YR005_HUMAN R88W 0 400661 14240 sw6453 YP015_HUMAN "E330Q,Q100R,Q183H,T368A,V275A,V345I,W419R" "0,0,0,0,0,0,0" 400499 5841 sw6454;dbsnp22263 RASF6_HUMAN;NP_958834.1 "A306G,A351V,E134K,E134V,E325D,F135L,I247M,L27P,L328R,M35T,P177S,Q71K,S163P,T365A,T367A,V123I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 166824 9220 sw6455;dbsnp26468 CDHR3_HUMAN;NP_689963.2 "A476T,A798S,A9T,C529Y,L506F,N380S,P752T,Q61H,R603C,R627C,T532S,V447I,V55M,V712M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222256 2693 sw6456;dbsnp29822 CX022_HUMAN;NP_689845.2 "A561T,C345R,C440R,F964L,H634Y,I255M,I390M,I67L,I686V,M779L,R41Q,R870W,S538L,S565L,T322A,T768S,V236M,V801M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 170063 2203 sw6457;dbsnp7850 FA92B_HUMAN;NP_940893.1 "D211E,D55N,E22K,F275V,G26E,L125R,N61K,P62S,Q106E,T238S,V86I" "0,0,0,0,0,0,0,0,0,0,0" 339145 10776 sw6459 YD002_HUMAN "I232T,S390L,S518C" "0,0,0" 55345 375 sw6460;dbsnp22037 K1211_HUMAN;NP_065773.1 "A92T,A993V,E117K,E138D,E310K,E434Q,G299R,I1090V,L269I,N609S,P654L,R655P,R710Q,R927H,S776L,S96P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57482 1329 sw6461;dbsnp24758 K0408_HUMAN;NP_055517.3 "D355Y,E327K,E79Q,F650L,I78T,P278S,P300S,P395S,P504S,P509T,Q317K,R188Q,R660H,S331L,S61R,T249M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9729 4125 sw6462;dbsnp18811 CC108_HUMAN;NP_919278.2 "A215V,A342S,A497T,A624T,A813V,D1234G,E1567K,E1804K,E1846K,E316A,F1473L,F1718C,F1894S,G1743S,G1758R,G36D,H528Q,I1320F,I1419V,I142L,K803R,K806M,L1205F,M66L,N1858S,N937S,P1729R,P398L,P632A,P655S,P695S,Q1251H,Q221E,R1027C,R1318Q,R1545Q,R760G,R760Q,S1075F,S1656P,S1699N,S702N,T1050A,T292M,T634A,T941M,V1213M,V137M,V1487A,V1493A,V653I,V672I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 255101 466 sw6463;dbsnp26493 UBN2_HUMAN;NP_775840.3 "D255E,D405G,D607E,K279R,L421Q,L943S,M402V,M979T,N778I,P1209Q,P1308A,P191R,Q886E,R156P,R173W,R192H,R981H,S424L,S725G,S921A,T1316A,V142L,V304G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254048 1071 sw6464;dbsnp5439 CE128_HUMAN;NP_689659.2 "A451V,D170E,D264N,F842L,H328R,H732R,I682L,K472R,K606I,K620Q,K620R,K720E,K882R,L245M,L55P,Q443R,R14H,R150W,R16L,R16Q,R222Q,R222W,R751H,V1059M,V354A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 145508 1733 sw6465;dbsnp28818 F75E1_HUMAN;NP_849150.3 "A1094V,A148T,A264G,A736V,D1202G,D652A,D682E,D704E,E1214K,E449K,G1023E,G1303D,G14D,G700R,G96R,G980R,K586E,K686N,L252P,L263V,L374V,L769V,M65R,P1186Q,P1304R,P1409R,P194S,P234S,P248R,P503S,P52L,P661S,P868L,P924L,P924R,P93T,Q1147E,Q1192K,R1344H,R1350H,R436C,R688K,R786H,R786L,R884W,R945Q,S487T,S51T,S645R,S917N,T1197M,T208S,T335P,T671M,T801I,V1019E,V1019M,V409M,V860I,W577G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286234 909 sw6467;dbsnp20961 CC062_HUMAN;NP_940964.1 "E110K,G205S,N142D,R19G,R66G,V60M" "0,0,0,0,0,0" 375341 11542 sw6468;dbsnp489 BCAP_HUMAN;NP_689522.2 "A73S,A83S,C256Y,D457G,E21K,E551K,G579R,I471N,K638R,M771V,N168K,P7L,Q77L,T726I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118788 3173 sw6469;dbsnp27463 CH086_HUMAN;NP_997295.1 "E199Q,H112Q,I130F,I15F,I217M,L94P,R80C,R80H,R81H" "0,0,0,0,0,0,0,0,0" 389649 12474 sw646;sws69;dbsnp20004 IRAK2_HUMAN;NP_001561.3 "A290V,A573S,D108N,D431E,D469N,D574H,E501G,I99V,L329V,L358M,L392V,L439V,L503I,L74F,L78M,Q391K,R147T,R214G,R312G,R43Q,R566W,S47Y,T508M,V203M,V71I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3656 4845 sw647 PHF1_HUMAN T42S 0 5252 5582 sw6472;dbsnp3473 DEN5B_HUMAN;NP_659410.3 "E786D,H487N,I610M,R1028Q,R52K,V250A" "0,0,0,0,0,0" 160518 1190 sw6473;dbsnp18113 F179A_HUMAN;NP_954974.2 "A55T,A936V,D475Y,E586K,G210S,G527R,G761R,G944V,I441V,I739T,L177P,L401H,L968M,Q265R,Q362R,R404Q,R404W,R67H,R724C,R772W,R897C,R905C,T941A,V535A,V764M,V852A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165186 2027 sw6474;dbsnp23325 LHPL2_HUMAN;NP_005770.1 "A188T,G150S,G95D,I102V" "0,0,0,0" 10184 12360 sw6475;dbsnp28374 PLPL7_HUMAN;NP_689499.3 "A358V,A861V,D1050N,D126E,E367K,E368D,E408K,G1123E,G286S,G286V,G387S,G536R,G931A,G951S,H405D,H902R,L993M,P1248S,P908L,Q364E,R236C,R236H,R245Q,R323Q,R323W,R399H,R784W,R816C,R982Q,S306I,S380L,T242A,T484M,T613M,T69I,T991M,V127M,V486A,V737E,V803A,V824M,W1055R,W874S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375775 1024 sw6476;dbsnp3637 FGD6_HUMAN;NP_060821.3 "A13T,A403V,A786T,E1184D,E1393K,E276G,E756K,H753Y,I7M,K1062R,K329R,K46Q,M109V,N264D,N548I,P206S,Q257R,R1002C,R1141K,R327C,R560W,R752L,S1416L,S196F,S228Y,T45A,V178I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55785 937 sw6477;dbsnp28996 CI139_HUMAN;NP_997394.1 "G180V,G60S,K168E,P116A,P7S,R31H,R37W,R4Q,S17L" "0,0,0,0,0,0,0,0,0" 401563 13165 sw6479;dbsnp22111 GRIN3_HUMAN;NP_938022.2 "A205T,A342E,A378V,A496S,A50V,A535E,D23N,G104A,G197E,G416V,H71P,I473M,L39V,L463P,M389L,P390S,Q470H,R406W,R439K,R746K,R761Q,R768H,S180G,S213T,S364R,S382P,S472P,S526R,S616R,S751R,S773A,T134P,V446A,V68F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285513 3398 sw6480;dbsnp18752 ESPNL_HUMAN;NP_919288.2 "A172T,A574S,A872V,A955T,C179R,E181D,G239R,G560R,I568V,K876E,Q492E,Q829R,R167Q,R351C,R521H,R5Q,R653W,V146I,V221I,V610M,V761A,Y176S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339768 2090 sw6484;sws754;dbsnp13399 TTL10_HUMAN;NP_001123517.1 "A131T,A259V,C84R,C97R,D503N,G112R,G25S,G578D,H295Q,I384V,K467T,L265R,L428V,M430K,P99L,R121Q,R233Q,R233W,R235Q,R235W,R359Q,R400C,R400G,R445C,R83W,S448N,S53L,V249A,V378M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254173 4341 sw6486;dbsnp17596 I17EL_HUMAN;NP_001001694.2 "C299Y,G70R,H108Y,L333P,P262L,P330L,R320H,R67W" "0,0,0,0,0,0,0,0" 400935 9988 sw6487;dbsnp18831 ASB18_HUMAN;NP_997721.2 "A104T,A127P,G261S,H407N,R289C,R429C,T41M,V100G" "0,0,0,0,0,0,0,0" 401036 7280 sw6488;dbsnp1722 MICLK_HUMAN;NP_116256.2 "A305T,D369E,F312L,G323R,N287S,P390T,P41L,R222C,R351Q,R557Q,R66Q,R671C,R68Q,S313G,T471P,V70I,Y93S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84953 4120 sw6489;spmut1476;dbsnp25875 PAXI1_HUMAN;NP_031375.3 "M1013V,R483C,Y188S" "0,0,0" 22976 1822 sw648;spmut796;dbsnp18469 GPR39_HUMAN;NP_001499.1 "A378T,A437S,A50V,H379R,I301L,M43L,N212S,R262G,R390C,S423C,S78L,T261R" "0,0,0,0,0,0,0,0,0,0,0,0" 2863 7521 sw6491;dbsnp7364 ANKS3_HUMAN;NP_597707.1 "A404T,A593P,A593T,C168G,D407G,G25E,G650R,K517R,L228P,M20V,M215R,R16C,R286W,R403H,R629C,R654Q,S111G,S582L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124401 4523 sw6492;dbsnp22708 KCTD8_HUMAN;NP_938167.1 "F137Y,K152R,P329L,P41S" "0,0,0,0" 386617 7146 sw6493;sws756 NEK10_HUMAN "F50L,L701V" "0,0" 152110 1502 sw6494;dbsnp25165 RFPLB_HUMAN;NP_001013756.2 "C49Y,D96H,G144S,G234D,N112S,N257D,R205C,R94W" "0,0,0,0,0,0,0,0" 442247 11623 sw6495;dbsnp8832 STXB4_HUMAN;NP_848604.3 "C120R,D401G,G92R,I106L,I281M,L349P,L493F,N280S,P143S,R490H" "0,0,0,0,0,0,0,0,0,0" 252983 5794 sw6496;dbsnp26345 KCP_HUMAN;NP_001129386.1 "A433T,A553G,A648V,C418Y,D1374E,D623V,G1198S,G47E,G906S,H1246R,I223V,K397E,N1286I,N1286S,N177S,P1128R,P1419S,P818S,R108C,R1422H,R217P,R239W,R62Q,V1087M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375616 820 sw6497;dbsnp21852 TM11F_HUMAN;NP_997290.2 "A271V,A4T,A4V,D124N,D365H,P172S,P322L,P370S,R15Q,R169K,R210K,R29W,R429Q,S202Y,S318F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 389208 7802 sw6499;dbsnp18883 MBOA2_HUMAN;NP_620154.2 "G489E,L442F,P464S,R356Q,T501A,V233I,Y222C" "0,0,0,0,0,0,0" 129642 6297 sw649;dbsnp24619;dbsnp24620 MSH5_HUMAN;NP_002432.1;NP_751898.1 "C580G,I313V,K603R,L377F,L85F,M159L,P29S,P722L,P786S,Q292H,R351G,R451H,V206F,Y202C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4439 3006 sw64;dbsnp25983 SSPO_HUMAN;NP_940857.2 "A1067V,A1207V,A1885P,A2113V,A2551V,A2602V,A2923V,A3583D,A412S,A4399T,A4542T,A753T,C1459Y,C1486R,C1868Y,C3077Y,C3892W,C4423S,C4596Y,C4650F,C4678Y,C697Y,D1254G,E2422K,E253K,E30K,E314K,E4941K,F4971L,G1102E,G1977R,G2143D,G2255S,G2618S,G2717C,G3020A,G3047S,G3114E,G3269R,G3409E,G3571D,G3791D,H3390Q,H4116P,H4164R,H4760D,H4787R,I648T,K3094R,L1273P,L1793P,L2891V,L398M,L4052V,L4834P,L616V,M2449V,M2452T,N2159S,N3512S,P1211R,P1341L,P1448Q,P1453R,P2060L,P2131L,P2171L,P2319L,P3223L,P3423L,P3770R,P4402S,P4457L,P4794L,P4832L,P4995L,P679S,Q146R,Q2218L,Q3101H,Q3194R,Q3683K,Q4107H,R1071P,R1158Q,R1258Q,R1264H,R1717W,R1797L,R1882C,R1957C,R2481Q,R2514C,R2541Q,R2657H,R2758Q,R27C,R2981H,R3037W,R3063C,R3208W,R3273W,R3460W,R3499Q,R3674H,R3682C,R3907H,R3909C,R4099C,R4220C,R4222H,R4330C,R4497C,R4508Q,R458C,R4651Q,R4651W,R4692C,R4960Q,R5042H,R807P,R967H,S1272P,S1424G,S1498C,S1778P,S199L,S2493L,S2507F,S3669F,S4028I,S4722F,T1755A,T1827I,T1995I,T2017M,T2776M,T3028A,T4424M,T4865M,T961M,V2191E,V298M,V539M,V91A,V928F,W3904R,W4256R,W4999R,Y77C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23145 26 sw6501;sws757;dbsnp20361 XIRP1_HUMAN;NP_919269.2 "A1054T,A1061V,A1145T,A1210V,A1608V,A1807T,A353V,A607S,A722V,C241Y,D1665G,D3N,E110D,E1620K,E361K,E386K,E599K,E666K,G1443S,G1604R,H965P,I1724V,L1701P,M1784I,M897T,P1046A,P1255S,P1258T,P182T,P581T,P859L,P876A,P995A,Q1707H,Q1832R,Q346R,Q754P,R1275H,R1341G,R145S,R1658Q,R206H,R320Q,R352Q,R431T,R551Q,R66H,R673S,R695C,R776Q,R776W,R818Q,R836C,S1354L,S219L,S463I,S808L,T1228I,T1406M,T1534M,V1148M,V1175I,V118M,V1501M,V153A,V1729L,V1768M,V662I,V680M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165904 532 sw6502;dbsnp6609 VP13C_HUMAN;NP_065872.1 "A1583T,A1687V,A2317S,A3717D,A81V,D3036N,D3715Y,D487V,D622E,E2008D,G2496R,G2994V,G2994W,G3616D,H2380R,I1132V,I1257V,I1417L,I1495V,I1804V,I1830S,I1830T,I2272T,I245T,I2789T,I3726V,I600V,K171E,K2808R,K3496R,L2157F,L3204S,M1866T,M1879R,M1989V,N1955H,N3027S,P2433R,P2504L,P309A,Q1749L,Q3705R,Q757R,R153H,R2421S,R2482H,R2542C,R2730C,R2785C,R3058C,R3176C,R3176G,R3203G,R3607H,R3652Q,R800S,R974K,S1592Y,S1841F,S2282F,S270L,S2904L,S2913N,S490P,S565T,T1412A,T1485A,T1522S,T2749M,T368A,T533N,T542M,T766N,T933A,V2322M,V2426I,V2621I,V2791M,V80F,Y1302C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54832 86 sw6503 ACD11_HUMAN "R157H,V362L" "0,0" 84129 3359 sw6504;spmut2303;dbsnp18794 UBP34_HUMAN;NP_055524.3 "A1410V,C277R,D2348N,E1996K,E2915Q,H2064Q,I714T,L1663R,L3500F,M661T,N1502S,R508S,S3432P" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9736 100 sw6505;spmut2301;dbsnp4092 UBP30_HUMAN;NP_116052.2 "D145H,E7K,H357R,M403K,N471S,P336L,R179H,R182Q,R206H,T414A" "0,0,0,0,0,0,0,0,0,0" 84749 6362 sw6506;dbsnp7492 UBP31_HUMAN;NP_065769.3 "A552T,D1269N,D445Y,G1085R,G1193R,I538T,K1017N,L314P,P1012L,Q285R,Q532H,Q659H,R1185L,R1197Q,R1205H,R1309C,R931L,S1038N,S1111L,S1338P,S1340G,S16N,T1288M,T505S,V948M,V963A,Y371C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57478 1065 sw6507;dbsnp22024 UBP53_HUMAN;NP_061923.2 "E892D,I81L,L743I,N504Y,N554S,P617S,P969T,Q530R,S962R" "0,0,0,0,0,0,0,0,0" 54532 1810 sw6508;sws759;dbsnp215 UBP54_HUMAN;NP_689799.3 "D1231N,D1667N,E1672Q,G1017E,G1367D,G1514A,G1578S,H1276R,H1361R,H1381Y,H1435P,K1246E,K329R,K976E,P1057S,P1669S,Q111E,R1451C,R761Q,R864H,S1164F,S1189C,S435N,S958L,T281M,T600S,V959A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 159195 657 sw6509;dbsnp25003 UBP45_HUMAN;NP_001073950.1 "A14T,A680V,C115W,C85Y,D710N,F349C,I418T,K650N,K67E,M262V,M398I,N399S,N483D,N778S,Q516H,Q652R,R521T,S538L,T372M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85015 3118 sw6512;dbsnp23227 CHSS3_HUMAN;NP_787052.3 "D764G,G615E,G629R,H533R,I464M,P482T,Q365K,S799L,S856R,V349A,V499I,Y285F" "0,0,0,0,0,0,0,0,0,0,0,0" 337876 2703 sw6513;dbsnp25955 CR3L2_HUMAN;NP_919047.2 "D107G,E433K,G211S,M31K,P70L,S446L,T374M,V130I" "0,0,0,0,0,0,0,0" 64764 6298 sw6514;dbsnp3436 IKIP_HUMAN;NP_963906.1 "G265S,I179T,K171R,S112T,V206A,V211L" "0,0,0,0,0,0" 121457 9051 sw6515 TALAN_HUMAN T62A 0 22891 7370 sw6516;dbsnp496 ZN365_HUMAN;NP_055766.2 "A337S,V329L" "0,0" 22891 7370 sw6517;sws760;dbsnp27850 PREX2_HUMAN;NP_079146.2 "A1523P,C56Y,D312N,E1598K,H230Y,I1218V,K63R,K787E,M1298L,N1327K,N210S,P1599L,Q1390E,R117H,R1215Q,R1230Q,R1394W,R155W,R427K,R746S,S1488L,S552R,S977L,T706S,T991A,V678L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80243 681 sw6518;dbsnp20057 5HT3D_HUMAN;NP_001157118.1 "A171G,E412K,F44V,G379S,K109E,L372V,L432M,P166A,P363S,R172W,R225H,R435H,R90Q,S72F,S79F,V267A,V308A,V448D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200909 6973 sw6519;dbsnp61 F10C1_HUMAN;NP_660289.2 "E100K,K170R,K258Q,L32S,R16H,R26S,S251F,S283R,T78R,V81I" "0,0,0,0,0,0,0,0,0,0" 118924 10528 sw651;dbsnp11294;dbsnp11295;dbsnp11296 KLK10_HUMAN;NP_665895.1;NP_002767.2;NP_001070968.1 "F69L,L149P,N276S,R110C,R152H,S50A,V147L,V153I,V258L,Y259H" "0,0,0,0,0,0,0,0,0,0" 5655 11339 sw6520;dbsnp551 CJ071_HUMAN;NP_001128668.1 "A1269T,A200T,A339E,A54V,D45G,D461A,D741G,D883N,E1008K,E1321K,E933K,F698S,F958Y,G1084A,G1317V,G1337S,G541D,H666Q,K1306T,N208K,N571I,P1322L,P315T,P376T,P379A,R1182Q,R1366S,R320L,R38W,R61G,S1079T,S183C,V1254I,V297I,V522G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118461 926 sw6521;dbsnp10674;dbsnp10676;dbsnp10677 KCTD1_HUMAN;NP_001129677.1;NP_945342.1;NP_001245150.1 "L107W,R237W,V248I" "0,0,0" 284252 2801 sw6522 H32_HUMAN "A128V,M91T" "0,0" 653604 14150 sw6523;spmut339;dbsnp21771 CENPU_HUMAN;NP_078905.2 "A169V,A279T,E264Q,G16R,G16S,I157T,I214M,I41V,K272E,L398M,P9A,R19C,R405Q,S215P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79682 8201 sw6525;dbsnp14859 ILDR2_HUMAN;NP_955383.1 "E186V,Q36R,R295C,S347N,V181M,V202I" "0,0,0,0,0,0" 387597 4704 sw6526;dbsnp4284 LARP4_HUMAN;NP_443111.4 "A9S,F351L,N502T,Q706R" "0,0,0,0" 113251 3841 sw6527;dbsnp9355 TMUB2_HUMAN;NP_001070142.1 "N182S,R228H,R228P" "0,0,0" 79089 10369 sw6528;dbsnp6496 NCKX5_HUMAN;NP_995322.1 "A116G,A236G,D265H,I381L,L481S,P366T,Q277E,R259C,T111A" "0,0,0,0,0,0,0,0,0" 283652 6665 sw652;dbsnp17475 CTR4_HUMAN;NP_004164.2 "A224T,A304E,A349T,D225E,F608Y,G228S,I8T,L383R,M50V,Q435H,Q443R,R265W,R570C,R588Q,S417T,S473G,T28I,V237I,V452I,V62M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6545 4742 sw653 HXC11_HUMAN "A222V,P130S" "0,0" 3227 10770 sw6531;dbsnp26126 H2AV_HUMAN;NP_036544.1 "I119T,Q125R" "0,0" 94239 14756 sw6532 FKB9L_HUMAN V125G 0 360132 5379 sw6533 ZN767_HUMAN "A131T,H31R,Q38R,T134A" "0,0,0,0" 79970 3031 sw6534;dbsnp11616 FBN3_HUMAN;NP_115823.3 "A1840V,A2233V,A2491G,A2582V,A347T,C1616Y,C319W,D1030N,D1196N,D1292G,D2278H,D2278N,D662N,D868N,D911V,E1850K,E1889K,E2610D,E434K,E492K,G1101E,G1122V,G1143S,G119A,G1311A,G1392A,G1614S,G1785S,G1801R,G1826D,G2202R,G2616R,G2651S,G2744R,G372R,G445S,G526S,H1251Y,H1966D,H2353Y,H2479R,H2540Q,H278Y,H460R,I150F,I1812V,I240T,K2677E,K933Q,L1904F,L1904P,L308V,M2240T,M266I,M371I,M371T,N1431I,N1685S,N1869K,N2005S,N2005T,N239S,P1958H,P2069A,P2174L,P238L,P2576S,P2728L,P2789Q,P329L,P374R,Q1209R,R1033L,R1083W,R1178Q,R1350C,R1400Q,R1488Q,R1525W,R1671Q,R1806Q,R1810Q,R1853W,R1953C,R2335C,R2471C,R2471H,R2736W,R2765Q,R2767Q,R279Q,R303H,R413Q,R46W,R473Q,R48Q,R595C,R935L,R981Q,S1293G,S1293N,S2314N,S2521N,T1792P,T1939N,T2096P,T2469P,T440I,T614I,T74I,T998M,V1161I,V1326I,V1370M,V1580I,V2594I,V45M,V542I,V59M,V938F,V938I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84467 159 sw6536;dbsnp3574 H1FNT_HUMAN;NP_861453.1 "A23V,L108P,R136S,R174Q,R195Q,R84G,S237F,T38S" "0,0,0,0,0,0,0,0" 341567 11802 sw6537;dbsnp20507 UTS2B_HUMAN;NP_937795.2 "G35R,R111Q,S21I,T96M" "0,0,0,0" 257313 14414 sw6538;dbsnp29323 S35D2_HUMAN;NP_008932.2 "A184S,F252L,Q234K,V102F" "0,0,0,0" 11046 9533 sw6539;dbsnp28380 NOL8_HUMAN;NP_060418.4 "A234S,D64N,D841E,E988D,G1021S,G470E,I178M,I691T,K165R,K479N,P511S,R161C,R161H,R667K,S406P,V748L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55035 1509 sw6540;spmut2036;dbsnp9011 SSH2_HUMAN;NP_203747.2 "A1114G,A539D,A956V,D235N,E545K,E970Q,G1312S,G1398S,H1086L,H1285D,H1300Q,H884R,I472V,L1286I,M676V,N1067S,N901H,P34L,P863S,R1394C,R1394H,R66W,R896H,S743L,S938G,T1320I,T1320N,T811R,V1001F,V1158L,V699M,V763A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85464 950 sw6541;dbsnp2492 B4GN4_HUMAN;NP_848632.2 "A67E,A67G,A67V,A99T,D439N,D439V,F426Y,G305R,G852E,G88V,M93I,N430S,P431S,Q71R,R881W,R89W,S227N,S255L,V1028I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338707 1943 sw6542;dbsnp19231 ASXL2_HUMAN;NP_060733.4 "A497T,A796V,D86E,D961G,K127R,L1308F,L731P,P1305L,P1310L,P1320T,P780L,P824A,R1075Q,S1334A,S1398L,T1210P,T1242P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55252 927 sw6544;spmut629 ERN2_HUMAN "A318T,H858Y,L410F,L504F,R118C,R184C,R271Q" "0,0,0,0,0,0,0" 10595 2220 sw6545;dbsnp18610 CEP68_HUMAN;NP_055962.2 "A105V,C357S,E473Q,F367Y,G39R,G57E,G74S,I143V,L397P,N356K,P233A,R264G,R27G,R410H,R414T,R461W,R462C,S173L,S684R,V607A,W56L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23177 3543 sw6546;dbsnp433 VKIND_HUMAN;NP_689856.6 "A1057V,A1216T,A128S,A1332T,A296T,A538T,A550S,C1444R,C603Y,D384N,E143D,E436G,G1059R,G1358V,G231R,G581S,K1112R,K1361R,L717P,N546D,P501S,P983L,P983S,R1027Q,R1038W,R1055W,R156Q,R458Q,R46W,S155G,S313C,V1063M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85442 587 sw6547;dbsnp24928 BT2A1_HUMAN;NP_008980.1 "C374F,C374S,G451A,L294V,L518F,M194V,M1I,M62V,N507S,P149S,R124C,R124H,R378Q,R68Q,S14C,S3P,T36A,T48M,T510M,V141I,V207M,V434M,V482M,W178C,W178L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11120 5325 sw6548;dbsnp299 COX15_HUMAN;NP_510870.1 P409Q 0 1355 8380 sw6549;dbsnp24147 DDX46_HUMAN;NP_055644.2 "E207Q,T269R" "0,0" 9879 1977 sw6550;spmut1774;dbsnp13974 RHOU_HUMAN;NP_067028.1 "F124L,I201V,P184T,S68R,T121A" "0,0,0,0,0" 58480 11744 sw6551;dbsnp25990 TRIL_HUMAN;NP_055632.2 "A347T,A687T,E474Q,G369D,K725E,N240S,R522L,R619H,V736A" "0,0,0,0,0,0,0,0,0" 9865 3135 sw6552;dbsnp20906 F194A_HUMAN;NP_689607.2 "A455S,D336N,D442G,D88E,E27D,E27V,E53G,G433R,G9V,H133R,K555N,L426V,L634F,N496S,R158C,R158H,R352L,R458Q,R549C,R604H,T267S,V111E,V41E,V48E,V501L,Y77D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 131831 4446 sw6553;dbsnp20541 MRRP1_HUMAN;NP_060289.2 "K164N,P56R,Y289C" "0,0,0" 54931 8521 sw6554;dbsnp20537 DPPA4_HUMAN;NP_060659.3 "I55V,M1T,Q35L,S226F" "0,0,0,0" 55211 10777 sw6555;dbsnp10556 CHST9_HUMAN;NP_113610.2 S122N 0 83539 7706 sw6556;sws763;dbsnp25147 NB5R4_HUMAN;NP_057314.2 "G21A,G49E,H223R,N249S,P267A,P316S,P340T,Q187R,R140H,S282P,T180I,T271I" "0,0,0,0,0,0,0,0,0,0,0,0" 51167 6281 sw6557;dbsnp15560;dbsnp15561 LRC8D_HUMAN;NP_001127951.1;NP_060573.2 "C786S,E74K,R112G,R812H,S371Y,V595L" "0,0,0,0,0,0" 55144 2846 sw6558;sws764;spmut591;dbsnp3006 EIF3M_HUMAN;NP_006351.2 "C125F,D307V,G37R,H205L,H205R,Q346R,Q79R" "0,0,0,0,0,0,0" 10480 9112 sw6559;dbsnp8082 CP059_HUMAN;NP_079384.2 "A347V,E418K,R206Q,R346K,R422C,S259I,S340L" "0,0,0,0,0,0,0" 80178 7890 sw655;dbsnp1897 ZW10_HUMAN;NP_004715.1 "E80K,I77M,L228F,M281K,Q532R,R562H,R82C,S213L,T573I,V324I,V578L" "0,0,0,0,0,0,0,0,0,0,0" 9183 3368 sw6560;dbsnp11841 ZN765_HUMAN;NP_001035275.1 "C372Y,D191H,E78G,H374R,R402H,S389G,V376L" "0,0,0,0,0,0,0" 91661 2403 sw6561;dbsnp24844 CENPQ_HUMAN;NP_060602.2 "A230V,D266G,G63R,T58A" "0,0,0,0" 55166 11520 sw6562;dbsnp28868 CD37L_HUMAN;NP_060383.2 "C35Y,D27H,L188I,S291F" "0,0,0,0" 55664 9964 sw6563 ZN771_HUMAN D207N 0 51333 10470 sw6564;dbsnp13687 SYPM_HUMAN;NP_689481.2 "A13T,L21R,N235S,P364R,R28S,R55W" "0,0,0,0,0,0" 25973 7104 sw6565;dbsnp17716 CV029_HUMAN;NP_078903.3 "D123Y,E256K,F171L,G74R,G74S,N135I,N20Y,P156A,P91S,R116H,R90Q,T60M" "0,0,0,0,0,0,0,0,0,0,0,0" 79680 9321 sw6566;dbsnp28847 FA73B_HUMAN;NP_116198.2 "A152S,A152V,A159V,A454T,D202N,E78K,G212S,P515S,R243C,S368N,V100A" "0,0,0,0,0,0,0,0,0,0,0" 84895 5226 sw6567;dbsnp4829 RSRC2_HUMAN;NP_075388.2 "H88R,R123K" "0,0" 65117 7877 sw6569;spmut446;dbsnp6748 CYFP1_HUMAN;NP_055423.1 "A1003V,A385T,A532P,D822N,G820D,G820S,G903S,H261N,I476V,I795V,K1185E,K260R,R1101L,S293P,Y1181C,Y777C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23191 1210 sw656;sws71 PROD_HUMAN "A167V,A455S,A58T,G444D,P30S,Q521E,Q521R,R431H,R453C,T466M" "0,0,0,0,0,0,0,0,0,0" 5625 5129 sw6570;dbsnp333 MCM10_HUMAN;NP_877428.1 "A195P,A341V,A418V,A542V,D69N,G239E,G271S,G352W,H374Q,H536R,K134R,K669R,P829L,R407H,R445C,R630Q,T241M,T389S,T541S,T742K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55388 2737 sw6571;dbsnp23417 DOK3_HUMAN;NP_079148.2 "A49V,D270N,G22R,L60P,L60R,N374S,N394S,R121W,R12P,R229H,V74L" "0,0,0,0,0,0,0,0,0,0,0" 79930 6724 sw6574;dbsnp7362 PCAT2_HUMAN;NP_060309.2 "A385T,M163I,S2I,T449M,V128I,V306I,V89I,V89L" "0,0,0,0,0,0,0,0" 54947 5926 sw6575;dbsnp10444 ENOF1_HUMAN;NP_059982.2 "A114V,A404T,D31E,I150V,L438F,M145T,P188L,Q235H,R254C,S7F,V122M,W126G,Y428S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55556 7599 sw6576;dbsnp22653 MAEA_HUMAN;NP_001017405.1 "G60S,R34C,S66C,S66F" "0,0,0,0" 10296 8661 sw6577;spmut733;dbsnp5957 G2E3_HUMAN;NP_060239.2 "A636T,I113V,I642V,P321T,P328L,R232H" "0,0,0,0,0,0" 55632 4029 sw6578;dbsnp20627 EPMIP_HUMAN;NP_055620.1 "A360S,V333F,V417G" "0,0,0" 9852 5052 sw6579;sws765;dbsnp694 DHX32_HUMAN;NP_060650.2 "A251V,A439V,A529P,D301A,E271D,E290A,E36D,R16C,V430L" "0,0,0,0,0,0,0,0,0" 55760 3675 sw657;dbsnp6744 SPIT1_HUMAN;NP_857593.1 "A469T,C121S,G443S,H390Y,P337L,P405L,Q245K,R381H,R418H,R89H,S460N,T142R,V279I,V479M,V511I,Y123C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6692 6143 sw6580;spmut2099;dbsnp10197 TAOK1_HUMAN;NP_065842.1 "A855T,M998I,R433H" "0,0,0" 57551 2104 sw6581;spmut1742;dbsnp825 RFIP2_HUMAN;NP_055719.1 "D158E,F152V,K26R,L222F,N430I,P437L,S382N,T275K,V262G" "0,0,0,0,0,0,0,0,0" 22841 6443 sw6582;dbsnp16233 FAKD5_HUMAN;NP_068598.1 "A2S,A698V,D713G,E103K,I288T,I310V,I377V,I380R,L494V,L91S,P496L,P742S,Q159H,Q243H,R256C,R694K,R727W,V101I,V672I,V759A,Y130C,Y228C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60493 3485 sw6583;dbsnp6792 ATBD4_HUMAN;NP_542381.1 "A22G,D46N,G41E,K193N,P236R,R123H" "0,0,0,0,0,0" 89978 11543 sw6584;dbsnp29064;dbsnp29065 LIGO2_HUMAN;NP_689783.1;NP_001245211.1 "A268D,A496V,E53D,L373M,M605I,P385T,R389L,R507H,S205G,T259A,V325L" "0,0,0,0,0,0,0,0,0,0,0" 158038 4913 sw6585;dbsnp25947 EEPD1_HUMAN;NP_085139.2 "A358S,A472V,D422N,L159V,N292K,N32S,N521K,P416S,P550T,S343N,V336I,V337A" "0,0,0,0,0,0,0,0,0,0,0,0" 80820 5562 sw6586 KDM3B_HUMAN "A256T,S1201N" "0,0" 51780 579 sw6588;dbsnp1959;dbsnp1960;dbsnp1961 GRP2_HUMAN;NP_722541.1;NP_001092140.1;NP_001092141.1 "A313V,A85T,D6G,G331R,G493A,P386L,P405L,R168H,R593C,R593H,S489C,V423M" "0,0,0,0,0,0,0,0,0,0,0,0" 10235 5030 sw658;dbsnp1916 TREA_HUMAN;NP_009111.2 "A558P,A561P,D76G,F54L,G525D,I328T,K140R,M360T,R125C,R486Q,R486W,T389A,Y449H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 11181 5362 sw6591;dbsnp21995 OTOP1_HUMAN;NP_819056.1 "A432V,A43V,D309E,E568D,G536A,I241V,I336M,I595L,K493T,K611N,L104M,L552F,Q516H,R338C,R420P,R449Q,V218I,V287I,V313L,V321M,V329G,V434M,W106R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133060 4999 sw6592;spmut2071;dbsnp9785 STRAA_HUMAN;NP_001003787.1 "L170V,P35L,P64S,R13W,R395H,S60I,T161I" "0,0,0,0,0,0,0" 92335 7928 sw6594;dbsnp17426 MICA3_HUMAN;NP_056056.2 "A1055V,D1075N,E1983Q,M1437T,M750L,P11A,P1551L,P1653T,Q1245R,Q618H,R1118H,R1118P,R1307G,R1345C,R745Q,S1192P,T1276I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57553 425 sw6595;dbsnp7804 NLRC3_HUMAN;NP_849172.2 "A69V,A829D,A929T,D716E,E293D,G374R,G432S,G82R,G931R,I286M,M337T,P199L,P434L,R667H,S345T,S482N,V567M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 197358 1843 sw6596;dbsnp3572 T2R42_HUMAN;NP_852094.1 "A311P,F196S,G255W,H116R,H246Q,I56V,L314W,N304K,N304S,R292Q,Y175F,Y265C" "0,0,0,0,0,0,0,0,0,0,0,0" 353164 10550 sw6597;dbsnp615 PTF1A_HUMAN;NP_835455.1 "A3V,S263P,T284N" "0,0,0" 256297 10193 sw6598;dbsnp8847 OTOP3_HUMAN;NP_839947.1 "A17V,D560Y,E257K,E490K,F339S,G102C,H148D,I535V,L477V,N249H,R145C,R146Q,R317C,R412C,R448C,R474Q,R495H,R524Q,R64Q,S199P,S531A,T173N,V435M,V98M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347741 5183 sw6599;sws767;dbsnp9242 OTOP2_HUMAN;NP_835454.1 "A206T,E311K,E433K,E524A,G318R,G378D,G465R,G465W,S386T,T45M,T522R,V537I" "0,0,0,0,0,0,0,0,0,0,0,0" 92736 5651 sw659;sws72;dbsnp5624 EFS_HUMAN;NP_005855.1 "A140D,A496T,D399N,E237K,G161S,G528S,P397A,P397R,P398L,P67S,P87L,Q444R,R156Q,R175W,R328Q,S265F,T7A,V100M,V34I,V454M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10278 5661 sw6602 SSX9_HUMAN "C72R,S97P" "0,0" 280660 12355 sw6603;dbsnp29850 SSX7_HUMAN;NP_775494.1 "C102R,D182E,D182N,E185K,L43S,P145R,Q80E,S181R" "0,0,0,0,0,0,0,0" 280658 12355 sw6604 SSX6_HUMAN "K138Q,R90C" "0,0" - 12355 sw6605;spmut1862;dbsnp26955;dbsnp26956 S29A4_HUMAN;NP_694979.2;NP_001035751.1 "A138T,A37E,A519T,A519V,D29G,D59E,D64N,G317S,G319S,G414D,G439A,L301V,L344M,M24L,N124K,P303L,P429T,R256C,R329W,V79E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222962 6128 sw6606;dbsnp18933 TCF23_HUMAN;NP_786951.1 "G133D,R146H,R25Q,T40S" "0,0,0,0" 150921 12650 sw6607;dbsnp6649;hgmd0613_2367 STRC_HUMAN;NP_714544.1 "E1604Q,E1727Q,G1562D,H1298R,L1640F,P1117S,R1521Q,R1521W,T1478P,V1467I,V1589I,W1367C,W1734R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 161497 573 sw6608;dbsnp24840 GSTA5_HUMAN;NP_714543.1 "M1I,S154T,T193M,V55I,Y74C" "0,0,0,0,0" 221357 12488 sw6609;dbsnp28906 CI021_HUMAN;NP_714542.1 "H200D,I203V,P4L,R197S,R83K" "0,0,0,0,0" 195827 12411 sw660;sws73;spmut1151;dbsnp21146;dbsnp21147 M3K13_HUMAN;NP_001229243.1;NP_004712.1 "A96V,D865G,D947H,E44K,E58D,E712K,G35E,M544V,P519A,R517G,R585Q,R915H,S649P,S651T,S694L,V60M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9175 2253 sw6610;spmut2233 TS1R3_HUMAN C757R 0 83756 2884 sw6612;dbsnp14216 CTSR4_HUMAN;NP_937770.1 "A187V,A215V,A250V,A407S,A71V,A93P,A93T,D436N,G331D,G33E,G427E,H50R,I293V,I299N,I80V,L124F,L145P,M83V,N177D,Q444H,Q77R,S328I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 378807 7167 sw6613;dbsnp311 MOT9_HUMAN;NP_919274.1 "A203V,A497G,D461E,F501V,T258K,V16L,V54I" "0,0,0,0,0,0,0" 220963 6487 sw6614;dbsnp22297 PRS48_HUMAN;NP_899231.2 "C53Y,L118S,R290C,S160A" "0,0,0,0" 345062 10194 sw6615 OVCH1_HUMAN "G754R,I444T,K330E,L557V,P881A,P934S,R133C,S672F,W228G" "0,0,0,0,0,0,0,0,0" 341350 1604 sw6616;dbsnp8142 PRS41_HUMAN;NP_001128558.1 "A53S,E169K,F233C,L141V,N160D,Q132R,S286G,V267M,W229R" "0,0,0,0,0,0,0,0,0" 360226 10437 sw6618;spmut1132;dbsnp13102 LPPR4_HUMAN;NP_055654.2 "A18S,A32V,Q2K,R345T,V139A" "0,0,0,0,0" 9890 3496 sw661;dbsnp16062 B4GT5_HUMAN;NP_004767.1 "A363P,A74S,D368H,D368N,E104G,G61S,I132T,I51M,Y371D" "0,0,0,0,0,0,0,0,0" 9334 8829 sw6620;dbsnp29593 H2BWT_HUMAN;NP_001002916.2 "A28T,E137K,G78R,P69S,R123H,R126C,R126L,R87W,S19L,T138I" "0,0,0,0,0,0,0,0,0,0" 158983 11759 sw6621;spmut1863;dbsnp23569 S36A1_HUMAN;NP_510968.2 "F362L,I187M,P25L,P354L,R141C,R141G,R40C,V169A,Y453C" "0,0,0,0,0,0,0,0,0" 206358 6459 sw6622;dbsnp29022 ERMP1_HUMAN;NP_079172.2 "D171N,H103Q,I419V,L432V,N338T,N486D,R193T,R272H,R34G,R770K,S44N,T654S,Y394C,Y803C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79956 2591 sw6623;dbsnp23498 GRIN1_HUMAN;NP_443131.2 "A308V,A531T,A535G,A539G,D6E,E151G,E233V,E441Q,E456Q,G236V,G311R,G337A,G359R,G549S,G86C,K589R,M300V,P121T,P563R,P906L,S174L,S277F,S357P,T450S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114787 2078 sw6624;dbsnp26208 ZCCHV_HUMAN;NP_064504.2 "A288T,A288V,A384T,A599T,D481A,F584L,H565Q,I574V,K674E,Q160R,Q701E,R270T,R295C,R295H,R385C,R485K,R577Q,R577W,R628W,R715H,R791H,S127F,S872L,T316P,T851I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56829 2606 sw6625;dbsnp18874 TRPM8_HUMAN;NP_076985.4 "K153E,M462T,N821S,P560S,R1081Q,R247T,R360C,R364H,R585K,R950W,S419N,T374I,T374N,T489I,T64M,T64R,T732I,V915M,Y191C,Y251C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79054 1697 sw6626;dbsnp29716 GGEE2_HUMAN;NP_997222.1 "L5V,P84R,S9T,V90G" "0,0,0,0" 203569 14252 sw6627;sws768;dbsnp29581 NRK_HUMAN;NP_940867.2 "A1121P,A694T,A993E,D1499N,D971G,E579G,E617K,E679G,G1471A,G1516D,H1276L,L1489F,M1472L,P1106S,P1194S,P426A,Q355H,R727H,S927N,V358M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 203447 750 sw6628;dbsnp6436 TICRR_HUMAN;NP_689472.3 "A1277T,A1281P,C1833R,G1200S,K1616T,L1605V,L1770F,P1544S,P1666L,P309S,Q1399E,R1276W,R1384Q,R1523C,R1628C,R1785H,R1885C,R287C,R402W,R628C,S1323T,S1718T,S1837T,S1884T,S923C,T1190M,T1732M,T1848S,V1357F,V1373I,V1835L,V747A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90381 477 sw6629;spmut642;dbsnp6482 ETUD1_HUMAN;NP_078856.4 "A991T,E478D,I617V,K711R,L496F,M756I,P881T,R1009Q,R537M,V1010I,V198L" "0,0,0,0,0,0,0,0,0,0,0" 79631 1655 sw662;dbsnp1522 SNUT1_HUMAN;NP_005137.1 "A326V,E318K,G485A,I120M,R245C,R299Q,R373Q,R410G,R590H,R590L,S463A" "0,0,0,0,0,0,0,0,0,0,0" 9092 3212 sw6630;dbsnp28599 MAMC2_HUMAN;NP_694999.3 "A372P,D108E,E76K,G63R,K355E,L10F,L422F,M243V,M667T,R183C,R371W,R625Q,S294N,S473R,V220M,V338M,V646A,W116R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256691 4203 sw6632 ZN551_HUMAN "N218S,R550W" "0,0" 90233 4025 sw6633;dbsnp30289;dbsnp30290 HDX_HUMAN;NP_001170950.1;NP_653258.2 "A133T,A193T,F397S,N557S,P392S,R119K,R394Q" "0,0,0,0,0,0,0" 139324 4167 sw6634 ZN550_HUMAN I359T 0 162972 4825 sw6635;dbsnp23467 CE043_HUMAN;NP_001041714.1 "K58Q,L23F,V11I,V26I" "0,0,0,0" 643155 14858 sw6637;dbsnp18496;dbsnp18497 ATG9A_HUMAN;NP_076990.4;NP_001070666.1 "A663V,G238R,G813E,H145L,Q659H,R146Q,R169H,S592G,T775A,V108I" "0,0,0,0,0,0,0,0,0,0" 79065 2966 sw6639;dbsnp21557;dbsnp21558;dbsnp21559 PARPT_HUMAN;NP_001171646.1;NP_056323.2;NP_001171647.1 "N372T,N479S,N526S,P136R,R406S,R521C" "0,0,0,0,0,0" 25976 4509 sw6640;dbsnp149 CJ118_HUMAN;NP_060487.2 "F149S,H178R,L891R,Q271K,R179Q,S139N,T542I,T85I,Y141H" "0,0,0,0,0,0,0,0,0" 55088 2621 sw6641 ARMC9_HUMAN "I180V,L108F" "0,0" 80210 3104 sw6642;dbsnp21432 PRIC2_HUMAN;NP_942559.1 "H811Q,K820R,R148H,R308Q,R336H,R336L,S731G,V153I,V605F" "0,0,1,0,0,0,0,1,1" 166336 2934 sw6643;dbsnp3349 ANR33_HUMAN;NP_001123487.1 "E248D,G262E,V261I" "0,0,0" 341405 7559 sw6644;dbsnp20817 SAMD7_HUMAN;NP_872416.1 "D277N,E220D,G178R,I314T,Q285E,S200N,S283L,T412I,T424S" "0,0,0,0,0,0,0,0,0" 344658 7655 sw6645;sws769;dbsnp27778 ZN572_HUMAN;NP_689625.2 "E416D,G380E,K317T,N171K,P60T,S284T,S308C,S448C,T323I,V500I,Y257C" "0,0,0,0,0,0,0,0,0,0,0" 137209 6149 sw6646 CP062_HUMAN "A506V,N186I,Y32C" "0,0,0" 57020 1889 sw6647;dbsnp14994 POGZ_HUMAN;NP_055915.2 "A1288V,A890V,E1365D,H1363Q,I1379V,I364V,N136S,P930R,R502K" "0,0,0,0,0,0,0,0,0" 23126 966 sw6648 MIER3_HUMAN "D126G,N414K" "0,0" 166968 5842 sw6649;dbsnp4051 CA2D4_HUMAN;NP_758952.4 "D916N,H471Q,H696R,I327V,M747V,P39R,R863H,S503N,T869M,V235M,V47M" "0,0,0,0,0,0,0,0,0,0,0" 93589 1594 sw664;spmut2144;dbsnp8120 TGFI1_HUMAN;NP_001035919.1 "A29V,A76P,L90V,N232S,P142L,P142R,Q129H" "0,0,0,0,0,0,0" 7041 7385 sw6650;dbsnp12886 NT2NL_HUMAN;NP_982283.2 "A115T,E226Q,F203L,P113L,P188H,R225G,R52Q,R74Q,S181R,S65L,S67P,T158I,T196S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 388677 254 sw6651;dbsnp14366 OR2W3_HUMAN;NP_001001957.2 "A34T,A64T,C169S,C88R,C88Y,E196D,G239S,M272K,M275T,P283L,P53T,R122Q,R122W,R142Q,R179C,V190I,V199I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343171 9497 sw6652;spmut2399 ZFY16_HUMAN "A35E,I192T,I598T,S1055G,T1519N" "0,0,0,0,0" 9765 786 sw6654;dbsnp3985;dbsnp3986;hgmd0613_2246 UBE3B_HUMAN;NP_904324.1;NP_569733.2 "A970S,D963N,F60L,F96L,L126F,R346Q,R41Q,R537W,S280P" "0,0,0,0,0,0,0,0,0" 89910 1828 sw6655;dbsnp11651 ZN571_HUMAN;NP_057620.3 "A227T,D594N,E252D,F400I,G319D,G387A,G415R,G480V,H273Y,I412V,I523V,K170M,K593E,L573H,P222S,Q189H,Q237R,R130W,R234C,R458H,R485C,R494I,R550K,S44P,S568G,T551S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51276 4677 sw6656;dbsnp9205 K1C28_HUMAN;NP_853513.2 "A279T,A286T,A302T,A350T,A41D,A62V,C47R,E180K,E365K,G126R,G456S,G52D,I292V,L439I,N7S,R131H,R392C,S34T,T155S,V189L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162605 6208 sw6657;dbsnp8725 K1C27_HUMAN;NP_853515.2 "A237T,A284T,A352S,E144K,E217K,E365K,G16R,G193S,G406V,I191L,I305T,L311F,R273K,S415A,S52T,T387I,T447I,V86G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342574 6208 sw6658;dbsnp9359 K1C26_HUMAN;NP_853517.2 "A151V,D189N,D206N,E316Q,G17E,G350R,I158L,K116R,Q113R,R93H,S451F,T86I,V231D,V240M,W118R,Y220H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 353288 6208 sw6659;dbsnp9551 K1C25_HUMAN;NP_853512.1 "A165T,A336G,D166N,E195Q,E239A,G66A,K222N,R267H,R72W,S54L,T17A" "0,0,0,0,0,0,0,0,0,0,0" 147183 6208 sw665;sws75;dbsnp20360 SRGP3_HUMAN;NP_055665.1 "F511L,G848A,G848V,I628V,P667H,Q324L,S405N" "0,0,0,0,0,0,0" 9901 1714 sw6660;dbsnp14870;dbsnp14871 RD3_HUMAN;NP_898882.1;NP_001158160.1 "D165A,D195V,E11K,E23D,G35R,G57V,K130M,R167K,R47C,R68W,R8W,T28M,W6R" "0,0,0,0,0,1,1,0,0,0,0,0,0" 343035 13076 sw6661;dbsnp17381 PIWL3_HUMAN;NP_001008496.2 "A543E,C412R,F880S,G774E,H86P,I477V,I666V,L324V,N329K,P186L,P375S,Q126E,Q21H,R10Q,R137H,R15H,R173C,R185W,R256H,R564G,R589C,R64G,R662Q,R878C,R8C,S184F,T877P,V124M,V204M,V418M,V471I,V641M,V660I,Y274H,Y855C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440822 2704 sw6662;dbsnp2338 PIWL4_HUMAN;NP_689644.2 "A370P,A9P,C505F,I729T,K167R,K256Q,L436M,M355V,M588V,N426S,Q327L,Q78R,R329Q,T335S,T486N,V302I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 143689 2885 sw6663;dbsnp6896 MYCPP_HUMAN;NP_005839.3 "G980R,H1301Y,L284P,R762S,T1574I" "0,0,0,0,0" 10260 482 sw6664;dbsnp7945 TMC7_HUMAN;NP_079123.3 "F386L,G254E,G437D,H141P,H57Q,K100T,K482Q,R59W,S125N,T351I,T355S,T635I,T70A,V662L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79905 3852 sw6665;dbsnp9100;dbsnp9101 TMC6_HUMAN;NP_009198.4;NP_001120670.1 "A280T,A380V,A445V,A449T,A665T,A794P,G191D,K235R,L153F,P502L,P639L,P795L,R104C,R398H,R405H,R491C,R583Q,S200F,T314M,T329I,V359L,W125R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11322 3174 sw6666;dbsnp10812 TMC4_HUMAN;NP_001138775.1 "G17E,G456D,H103Y,K74R,L390I,L488M,M184T,N174K,P396S,Q689E,R249H,R422W,R50Q,S237A,T373I,V295L,V427I,Y163C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147798 3949 sw6668;sws770;dbsnp27479 CSMD3_HUMAN;NP_937756.1 "A1729V,D1479E,D1746N,D488H,D678N,E13D,G1370D,G1589R,G2237D,H2730Q,I1914V,I219M,I2737V,I3643T,I718N,I876V,K997E,L3384R,L3488P,M1442T,M729V,N130D,N3208I,N3621H,N48D,P1081T,P16L,P2576L,P786L,Q2521R,Q3439H,R1020H,R1228Q,R2168Q,R497I,R683H,S1899L,S249N,S3091P,S416F,T3204M,T363S,T75A,V168I,V3000L,V948I,Y1643C,Y2068C,Y3189F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114788 88 sw6669;dbsnp13009 CSMD2_HUMAN;NP_443128.2 "A1711T,A1999V,A2117V,A2744G,A3048T,E1760D,E2042K,E2119K,E858D,G1174R,G2191S,G2714V,G3270W,G3287E,G456S,G465D,H538R,I1756V,I309T,I348V,K701R,L1264V,L167P,L2661R,L2661V,M2554V,N1119S,N2666S,N2701S,N491S,N881S,P1779S,P3341S,P87A,Q2514R,Q308K,Q61R,R2066Q,R2096K,R2254Q,R2254W,R2274H,R2637H,R2797Q,R2804H,R2868Q,R3249Q,R3259W,R3436T,S3406F,T1791A,T2718S,T3469A,V1057L,V1827M,V2108G,V2251I,V644I,V696I,Y1743F,Y2107H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114784 104 sw666;dbsnp11025 ZN264_HUMAN;NP_003408.1 "C208F,C55Y,D87N,E157G,G166D,G179R,G69E,H185Y,N290S,P286L,R181T,R183H,S506N,T24S,T366N,T499M,Y539C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9422 4825 sw6670;dbsnp10974 TMPS9_HUMAN;NP_892018.1 "A187V,A218V,A415T,A456T,A497G,A543T,D250N,E938K,G1033S,G363S,G798R,H1038P,I131V,I617T,K16N,K656E,L98F,Q635R,R112Q,R221G,R272W,R306Q,R369G,R417H,R428C,R577Q,R73W,R74W,S30T,S360T,S659T,S746L,S793N,T1044I,T252K,T252M,T4A,T722M,T758M,T763R,T86I,V279I,V622M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 360200 1859 sw6672;spmut1047;dbsnp45 KCNKI_HUMAN;NP_862823.1 "A198G,A233E,A233V,A34V,C110R,E255K,F372L,F58Y,R10G,R165W,S231P,V272A,V346I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 338567 8911 sw6673 LFG1_HUMAN S107N 0 2907 9183 sw6674;spmut1186;dbsnp16542 MAVS_HUMAN;NP_065797.2 "A208E,C79F,C79S,G194R,G396S,G413S,Q198K,Q93E,R218C,R239C,R65W,S409F,T163M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57506 5985 sw6676;dbsnp7380 PK1L3_HUMAN;NP_853514.1 "A1384V,A1545T,A1720T,A471D,D1330G,D587A,G1283E,G277S,H571Q,I120F,I688M,K274E,L1236S,L131V,M237V,N344I,P26Q,P357S,Q655R,R1059C,R1063C,R1531Q,R1533C,R1572H,R1576G,R377H,R481T,R789Q,S1176R,S1574T,S16T,S211P,S276C,S489I,S706R,T1372I,T1446A,T1718M,T429S,T669S,V270L,V291I,V538I,V593M,V632I,V678M,V733I,V903I,Y1474C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342372 605 sw6677;dbsnp18404 CLAP1_HUMAN;NP_056097.1 "A1136V,A289V,I233T,N733S,R1217H,R4L,R641H,R754C,T274I,Y30C" "0,0,0,0,0,0,0,0,0,0" 23332 787 sw6678;dbsnp14585 BNIPL_HUMAN;NP_612122.2 "G209S,N253D,R189H,R275C,R321H,R86C,R93Q,S226N,S65N,T3A" "0,0,0,0,0,0,0,0,0,0" 149428 9492 sw6679;dbsnp23856 DHX29_HUMAN;NP_061903.2 "A348S,D259E,D309A,E431D,H577Y,K807Q,L490I,M317I,N542D,P630H,Q96P,S1259F,T948A,Y210C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54505 1033 sw667;dbsnp26564 AP5Z1_HUMAN;NP_055670.1 "A469V,H195R,L375Q,Q111H,S94C,V700M,Y596S" "0,0,0,0,0,0,0" 9907 3161 sw668 CP110_HUMAN "I252M,R69S" "0,0" 9738 2057 sw6681;dbsnp5524 LRP10_HUMAN;NP_054764.2 "A501S,A575T,M139V,P377R,R231W,R48W,R562H,R600H" "0,0,0,0,0,0,0,0" 26020 3938 sw6682;spmut401;dbsnp5363 COMD6_HUMAN;NP_987091.1 "D33N,H52N" "0,0" 170622 14684 sw6683;dbsnp25132 TRM11_HUMAN;NP_001026882.2 "A232S,A232T,C5S,D244G,E362G,I306V,L230Q,P435L,R422W,T378M" "0,0,0,0,0,0,0,0,0,0" 60487 7346 sw6684;dbsnp25237 HDDC2_HUMAN;NP_057147.2 "R64C,R64G" "0,0" 51020 12874 sw6685;dbsnp28917 HAUS6_HUMAN;NP_060115.3 "A194S,A325G,A615V,D723Y,E677D,G113S,H674Q,H92Y,I209T,K378E,N271H,N790S,P678S,Q324R,R322C,R710Q,S2G,S552T,S761I,T779S,V370F,Y221C,Y336C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54801 2305 sw6686;dbsnp2226 KDEL2_HUMAN;NP_714916.3 "K501N,P144L,R248Q,R319L,T341P" "0,0,0,0,0" 143888 6525 sw6687;dbsnp26215 F220A_HUMAN;NP_001032240.1 "A174V,A18T,G237S,G71R,K217N,N254I,P110A,P146L,P162L,R116Q,R127Q,V161L,V198M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84792 11453 sw6688 GL6D1_HUMAN A282E 0 360203 10688 sw6689;dbsnp18293;hgmd0613_2088 TT21B_HUMAN;NP_079029.3 "A294S,A327S,A636T,A744P,D1041N,D1284H,D1305G,D242N,D424E,D755Y,F60Y,H566R,H645R,I1208S,I624V,I78M,K157E,K66R,K846R,L1002V,L473F,L699V,L795P,L911V,M1011T,M1011V,M1186V,M280V,M844V,N320K,N721H,N752S,P1266L,P209L,P463S,P753L,Q222L,Q412R,Q869R,R1044Q,R1222Q,R1311G,R1311H,R411G,R616C,R628H,R672W,R863W,R867C,R867H,R939Q,R939W,R981H,R991H,R998I,S524C,S546F,S591N,S724T,T1103R,T231S,T276A,V1075L,V1139A,V201M,V559G,W150R,Y1035C,Y1167C,Y1236C,Y255C,Y347C" "0,1,0,0,1,0,0,0,0,1,1,1,0,1,0,0,1,0,0,1,0,0,1,0,1,0,1,0,1,0,0,0,0,1,0,1,0,0,1,0,0,0,0,1,0,0,0,0,1,1,0,0,0,0,0,0,0,1,0,1,1,0,0,0,0,0,1,0,1,0,1,1" 79809 1132 sw6690;dbsnp6833 R114L_HUMAN;NP_001035826.1 "N58S,V148M" "0,0" 283677 11562 sw6692;dbsnp1932 P4HA3_HUMAN;NP_878907.1 "D299G,D400N,D505H,I93V,R156Q,R388H,R409C,R419W,S378L" "0,0,0,0,0,0,0,0,0" 283208 5927 sw6693;dbsnp7929 HEAT3_HUMAN;NP_891552.1 "D478Y,E618K,E632Q,E672K,G405R,H332P,I205V,I370T,I515V,M286T,M291I,R302S,R337K,R642S,S528C,S551T" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55027 4269 sw6694;dbsnp3272 KI21A_HUMAN;NP_001166935.1 E569A 0 55605 667 sw6695;dbsnp26461 GLTL5_HUMAN;NP_660335.2 "C124R,D180Y,E183G,G206A,G401S,H94R,R398Q,R413H,T158M,T299I,V196I,Y143C" "0,0,0,0,0,0,0,0,0,0,0,0" 168391 5042 sw6696 AAT1_HUMAN A207P 0 89876 3463 sw6697;dbsnp24387 CF201_HUMAN;NP_001078870.1 "C77F,D25V,D25Y,G73R,G73W,L9I,N117K,P32T,R20P" "0,0,0,0,0,0,0,0,0" 404220 14082 sw6698;sws771;dbsnp636;dbsnp638;dbsnp639;dbsnp640 ZN438_HUMAN;NP_877432.1;NP_001137240.1;NP_001137239.1;NP_001137238.1 "A253T,E642K,E711Q,E789D,G27S,G618D,G745R,L693V,M554T,N777S,P173S,P175A,R651H,T552A,V494M,V511I,V575M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220929 3040 sw669;dbsnp3843 ADCY6_HUMAN;NP_056085.1 "A674S,E1022K,G1086V,I385F,I423M,I547T,L677M,P582L,R120C,R138H,R29Q,R34Q,R571W,R588C,R635H,R663W,R965H,R966C,S133L,S133W,V871I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 112 1250 sw66;sws4;dbsnp3491 SBNO1_HUMAN;NP_001161328.1 "D1160E,D684N,E715G,G237V,I704M,M1060V,N774S,P132L,P132Q,P1351L,P826S,S1159N,S375L,S728N,S729N,T184I,T829I,V1330M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55206 990 sw6701;sws772;dbsnp18287 Z804A_HUMAN;NP_919226.1 "A1062T,A1108T,A180T,A622G,C325F,D479G,E389G,E542K,E783D,F1131L,F823S,G1152R,G545S,H747R,I409V,I492V,I698T,K600R,K658Q,K807Q,L1081V,L497P,L656F,L992P,N327T,N759D,N839S,P1207S,Q261L,Q317R,R124K,R154Q,S1013C,S521C,S738G,T544I,T707I,T707K,T707R,V1047I,Y5C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91752 1396 sw6702;sws773;dbsnp13032 SPT21_HUMAN;NP_940948.1 "E261Q,E49K,G343V,H305P,H305Q,I53L,L182S,L78F,N234S,N334K,N390K,P119L,P139A,P151L,Q184R,Q67E,R196W,R227C,R467Q,S228G,T23M,T256M,V255L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374955 7221 sw6703;dbsnp28536 AKNA_HUMAN;NP_110394.3 "A1016T,A414E,A606V,A715T,E942K,G130R,G149R,G149S,G670R,G719V,I1348V,I553V,L544V,P1046L,P1056R,P1373L,P317L,P624L,P691S,P829S,Q1081R,Q1097R,R1105H,R1119Q,R1216Q,R326Q,R506C,R530Q,R600W,R647H,R9H,R9L,S1303P,S1312N,S485N,T662I,T688M,V870M,V962M,Y1327C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80709 918 sw6704;sws774;dbsnp2501 RIC3_HUMAN;NP_001193600.1 "C130Y,D312N,D352N,G121A,G172A,G266R,K25R,P101S,P135S,P57H,R192Q,V197F,Y218C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79608 9221 sw6706;dbsnp15989 VN1R5_HUMAN;NP_776257.1 "L165I,L4S,R350C,S54T" "0,0,0,0" 317705 9493 sw6707 VN1R4_HUMAN "A52V,D220N,R58L" "0,0,0" 317703 8685 sw6709;dbsnp18279 ANKAR_HUMAN;NP_653309.3 "A1104T,A1245V,A1427D,A647T,C623Y,D60N,D879N,E106D,E106K,F483L,G1050V,G1065A,G1065D,G144R,G533V,G992E,H379L,H433R,H539L,I675V,K1363E,K191T,K558R,L1077F,L1420P,L94P,L94R,L957F,M1380I,M502I,M999T,N242K,N271D,P324L,P391S,Q1419L,R1159C,R1272H,R176H,R519C,R802H,R802L,T206A,T682A,V1039A,V1086G,V776A,Y1262S,Y438S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150709 930 sw6710;dbsnp662 WAPL_HUMAN;NP_055860.1 "D1060E,D500Y,E1099Q,I55V,N179S,P492A,Q105H,Q374R,R1045Q,R354W,S503F,V124I" "0,0,0,0,0,0,0,0,0,0,0,0" 23063 1449 sw6711;dbsnp8997 VMO1_HUMAN;NP_872372.1 "A173T,A195V,D188N,S124L,T26A,T77S" "0,0,0,0,0,0" 284013 12917 sw6712 R3HCL_HUMAN "H656R,S113P" "0,0" 27291 3273 sw6713;dbsnp1939 SPT19_HUMAN;NP_777587.1 "A50V,G66D,V67I" "0,0,0" 219938 13589 sw6715;dbsnp12900 I2BP2_HUMAN;NP_892017.2 "A254V,N345S,R173C,S78P,V299A" "0,0,0,0,0" 359948 5309 sw6716;dbsnp6710 TMC3_HUMAN;NP_001074001.1 "A113T,C893Y,D1099N,D849V,F1034L,F774S,G214S,N486K,P183S,P374T,Q24R,Q49H,R1012K,R111C,R14W,R270Q,R393C,V196I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 342125 1712 sw6717;sws775;dbsnp5810 AB12B_HUMAN;NP_001193602.1 "A252E,F334L,G167D,H300R,M273T,M43T,P335A,R320C,T202A" "0,0,0,0,0,0,0,0,0" 145447 9359 sw6718;dbsnp25976 SDK1_HUMAN;NP_689957.3 "A1587V,A1679T,A2028V,A208G,A2136T,A317V,A364V,A566V,A685T,D1016N,D197E,E1249Q,E1286K,G1013S,G1945A,G441R,H1641R,I1638V,I295V,K514E,L1918M,L249V,L988V,L996R,N1893S,N2103S,N211H,N613S,P1092R,P1726L,P1898Q,P1931L,P367L,P911L,Q419E,R1018C,R1091W,R1317W,R1395Q,R140H,R346H,R500G,S1686R,S2120P,S354F,S58P,S619L,T1027M,T1366M,T1438I,T1588A,T1769P,T1919M,T2188K,T567M,V1051M,V1175M,V1229I,V1540I,V202I,V2109M,V437A,V543I,V721I,V728I,V855I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221935 337 sw6719 MUC19_HUMAN "A1462S,A783T,A867T,C827Y,D219H,E1178A,G133E,G712S,G743W,I567T,I694M,L426F,N1037S,R207L,R731H,S1186R,S642F,T1104A,T199K,V206I,V259I,V285I,V299I,V909A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283463 11 sw671;sws76;dbsnp10425 CTIF_HUMAN;NP_055587.1 "A63V,I413M,L294V,P82L,P82Q,R298C,R298H,R351W" "0,0,0,0,0,0,0,0" 9811 5138 sw6720;spmut537;dbsnp21972 DPOLN_HUMAN;NP_861524.2 "A683V,D177Y,E182K,F711L,G183V,G258V,G336S,K542R,M310L,P265S,P315S,P577L,P812L,Q121H,Q124E,R201G,R253C,R425C,R523Q,S502G,S827F,S895L,T224A,T408K,T506M,T618A,V305M,V34A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 353497 2615 sw6721;dbsnp674 AB1IP_HUMAN;NP_061916.3 "A158T,A449T,A617T,K513N,M11I,R429W,S337F,T404A" "0,0,0,0,0,0,0,0" 54518 4412 sw6722;dbsnp22377 TM144_HUMAN;NP_060812.2 "D157G,I239F,I58V,T105P,T242I" "0,0,0,0,0" 55314 9790 sw6723;sws776;dbsnp20087 WDR53_HUMAN;NP_872433.1 "E181Q,G299D,H338P,H9Q,T34M,T6M" "0,0,0,0,0,0" 348793 9475 sw6724;dbsnp2398 PPR32_HUMAN;NP_659454.2 "A121V,A408G,A69V,E178K,E317Q,G200S,H249R,L194F,L254P,P73L,Q141R,R116Q,R165W,R310Q,R44H,S382T,T22M,T238N,V49L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220004 8038 sw6725;dbsnp4105 BN3D2_HUMAN;NP_859059.1 "D8G,G66E,L107F,P30L,R142Q,R227Q,S288R,V82M" "0,0,0,0,0,0,0,0" 144233 11043 sw6726;dbsnp12865 BMP8A_HUMAN;NP_861525.2 "A361T,E278K,M106V,M84V,N360D,R270K,R293H,R298Q,S276T,Y307S" "0,0,0,0,0,0,0,0,0,0" 353500 8540 sw6727;dbsnp24762 KCD20_HUMAN;NP_775833.2 "G169S,G382R,L12S,R215L,S171T,S85N,T120M,V379A" "0,0,0,0,0,0,0,0" 222658 7110 sw6728;dbsnp9068 GP142_HUMAN;NP_861455.1 "C318G,E29V,G412C,H132N,L50V,P454L,R112Q,R124Q,R256C,R267W,R276H,R351Q,R373W,R426Q,R86H,S284T,T130M,V154M,V157A,V157I,V208A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 350383 7362 sw6729;spmut1992;dbsnp7429 SNX20_HUMAN;NP_878274.1 "A272V,G303S,H73Y,P28Q,P35L,P37Q,Q24H" "0,0,0,0,0,0,0" 124460 10500 sw672;dbsnp27558 MTSS1_HUMAN;NP_055566.3 "I604T,M64I,N305I,P435L,P703Q,R381W,R459W,R73K,T725A" "0,0,0,0,0,0,0,0,0" 9788 3564 sw6730;sws777;dbsnp851 ARHG8_HUMAN;NP_001040625.1 "A498V,A529V,A553V,D565N,E520K,R394Q,R469C,R497Q,R591Q,T417I,V547I" "0,0,0,0,0,0,0,0,0,0,0" 10276 5184 sw6731;dbsnp26041 ADCK2_HUMAN;NP_443085.2 "A137V,A217P,A614V,D609N,G248D,L42F,P124S,P622L,P626L,R390C,R390H,R602P,R67Q,R98H,S307P,S483F,S66G,V418L,V418M,Y117C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90956 4835 sw6733;spmut242 BTLA_HUMAN "I124V,P267L,R157S" "0,0,0" 151888 11121 sw6734;dbsnp3539 CCD91_HUMAN;NP_060788.3 "A36T,D121G,G172A,I237V,K242N,M261V,Q197E,Q403K,S130F,T264K,V314M" "0,0,0,0,0,0,0,0,0,0,0" 55297 7741 sw6735;dbsnp8004 RBBP6_HUMAN;NP_008841.2 "D43H,G499S,I1661V,K1208I,K1441R,P342S,R1182H,R1280W,R1516K,R784S,R879C,S1398I,S363P,T1452M,T456N,V1698I,V555A,Y763H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5930 566 sw6736;dbsnp7559 NECA2_HUMAN;NP_061938.2 "A220T,A256T,E98Q,G233S,G280D,H225Q,H321L,K361N,L137V,L353V,M283K,N175S,P219L,Q308H,R307C,R385W,T105M,T235S,T314A,V325M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54550 8872 sw6737;dbsnp14065 RHG30_HUMAN;NP_001020769.1 "A585V,A644G,D363N,D797H,D848G,E863K,F70L,G639R,G738E,I365T,K129R,L208F,L591P,L591V,L619P,P1053Q,P1053R,Q213R,R1016W,R1017Q,R1084C,R308Q,V345M,Y807H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 257106 1705 sw6738;spmut1926;dbsnp22045 SH3R1_HUMAN;NP_065921.2 "A507T,A634V,D152H,G59V,G771S,I453V,M530V,P601S,P655S,P663S,P780A,S650R" "0,0,0,0,0,0,0,0,0,0,0,0" 57630 2671 sw6739;dbsnp24439 FGD2_HUMAN;NP_775829.2 "D36E,E231K,E293D,E447D,F387L,G58R,H38R,K104N,Q32H,R171Q,R508Q,R608Q,R638W,S561N,S69T,T55M,V57I,V61M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221472 4531 sw673;dbsnp7563 ATMIN_HUMAN;NP_056066.2 "A753T,A815V,D322N,E215K,G721V,I375L,K305E,K390R,M513I,Q741H,R254G,S240P,S714C,T461I,T660A,V521I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23300 3071 sw6740;dbsnp25047 UBE3D_HUMAN;NP_944602.1 "C257Y,D315N,L359F,R211C,R211H,R378C,R69C,S192Y,S381Y,T174P,V348I,V379M" "0,0,0,0,0,0,0,0,0,0,0,0" 90025 8815 sw6742;dbsnp7896;hgmd0613_2316 PRRT2_HUMAN;NP_660282.2 "A214P,A287T,D147H,E23K,G176E,G237R,G305R,P138A,P215R,P216H,P216L,P45S,R245H,R266W,R308C,S317N,V338A,W281R" "0,1,0,0,0,0,1,0,0,0,0,0,0,1,1,1,0,1" 112476 8713 sw6743;dbsnp26589 TCPR1_HUMAN;NP_056210.1 "C801S,L6V,M342V,N473S,P944L,S733Y,V458M" "0,0,0,0,0,0,0" 25851 1513 sw6744;dbsnp28378;dbsnp28379 RABEK_HUMAN;NP_005824.2;NP_001167623.1 "A175P,D313G,F285L,G202R,H73Y,I223V,I301L,M333I,P129Q,P58A,R113Q,R193Q,R47T,R60G,S316P,S95C,T67P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10244 9164 sw6745;dbsnp18466 MTER2_HUMAN;NP_872307.2 "C307R,D347E,D354E,D364E,D365N,D378E,E343D,L339V,M189T,N356D,R116W,R322Q,R41C,T331I,T45A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 130916 8953 sw6746;dbsnp17513 DNJB7_HUMAN;NP_660157.1 "C84R,D177G,E166K,E41A,K202N,P145T,R62W,Y127D" "0,0,0,0,0,0,0,0" 150353 10238 sw6747;dbsnp17385 PLPL5_HUMAN;NP_620169.1 "D138N,E160K,F150L,L140F,R165C,R328W,R331G,T200I,T218I,V363G,W286R,W375C" "0,0,0,0,0,0,0,0,0,0,0,0" 150379 7960 sw6748;spmut921;dbsnp30351 HUWE1_HUMAN;NP_113584.3 "A2896V,A3557V,A969T,G2265S,I212V,I682V,N4274S,N483S,Q623H,R2981H,R4013W,R4187C,T1028A,V1987A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10075 61 sw6749;dbsnp22071 ANR37_HUMAN;NP_859077.1 "A44T,F46L,G147R,P34L,T152S" "0,0,0,0,0" 353322 13765 sw6750 PKHH3_HUMAN Q547H 0 79990 3266 sw6751;dbsnp23037 HTRB2_HUMAN;NP_775760.3 "D1529G,D648V,D941E,E468V,E906K,F890L,G149E,I51T,K617N,K687R,L1179P,L263I,M11V,M781V,N918K,R330Q,R526H,V362I,V496I,W191R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133558 746 sw6752;dbsnp3333 K2C1B_HUMAN;NP_778253.2 "A10T,D336N,E147Q,E354K,G109R,G220C,G46C,L431M,P32S,Q341R,Q450R,R183Q,R339Q,R339W,S264G,S322F,T367M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374454 4648 sw6753;dbsnp28929 CNTRL_HUMAN;NP_008949.4 "A13E,A2074D,A2236T,A357T,A889T,D541V,E1322D,E1937K,E807G,E807K,F1057V,G1657E,G500S,I1407V,I39V,K1807R,K2067R,K318T,L35V,L422V,L954S,M1146V,M2228T,N1272S,P1214A,P1214S,P216L,Q1534P,Q1928E,Q2128H,Q734R,R1058L,R1350W,R1440P,R1776Q,R2025W,R2233C,R430K,R509H,R805C,R812C,S1724A,S320N,T1891N,T824A,V56I,V800I,Y236C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11064 295 sw6754 CTU1_HUMAN A107V 0 90353 9708 sw6755;spmut1672;dbsnp21091 PXK_HUMAN;NP_060241.2 "A525V,A535V,C425R,D60A,E534K,I426V,K167N,K481R,N474I,T213I" "0,0,0,0,0,0,0,0,0,0" 54899 5444 sw6756;dbsnp25390 FLIP1_HUMAN;NP_056502.1 "E436Q,G1210A,G1210V,H833N,K1124N,K213T,K368R,K495E,L282F,M1032V,M377V,M865R,P1003S,R1119Q,R1159H,R44K,R4Q,S443N,S475N,T1126M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27145 1386 sw6757;dbsnp16358 DB128_HUMAN;NP_001032821.1 "C24S,G73D,H62Y,I84T,I88T,K27N,M1K,V14I" "0,0,0,0,0,0,0,0" 245939 14732 sw6759;dbsnp22308 CLNK_HUMAN;NP_443196.2 "D70H,P178S,P31L,S65G" "0,0,0,0" 116449 7982 sw675;dbsnp6530 AQP9_HUMAN;NP_066190.2 "A159V,R219Q,T279A,V176I" "0,0,0,0" 366 10973 sw6762;dbsnp20773 DPPA2_HUMAN;NP_620170.3 "A157S,D281H,M185T,R131Q,S232L" "0,0,0,0,0" 151871 10912 sw6763;dbsnp26466 ZN467_HUMAN;NP_997219.1 "D333N,H129Q,H258R,H322Y,P217L,P217R,P425L,P57L,T324A,V419M" "0,0,0,0,0,0,0,0,0,0" 168544 5195 sw6764;dbsnp9135;dbsnp9136;dbsnp9137;dbsnp9138;dbsnp9139 SLN11_HUMAN;NP_001098058.1;NP_001098057.1;NP_689483.3;NP_001098060.1;NP_001098059.1 "A523T,A816T,C487S,F223I,I667T,K196R,K253N,K652E,N301D,N658K,P433S,P70T,R291C,R436P,R436Q,R489C,R489L,R590H,R689Q,R855W,S269C,S713N,T154A,V121F,V881I,Y822C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91607 2611 sw6765;spmut2397;dbsnp28360 ZER1_HUMAN;NP_006327.2 "D732E,E742D,L136I,R101H,R101L,R35Q,T539I" "0,0,0,0,0,0,0" 10444 3468 sw6766 CK096_HUMAN "F151S,P352S,R110S,R144C,S47P,T26A" "0,0,0,0,0,0" 387763 7856 sw6767;dbsnp6545 ZSCA2_HUMAN;NP_870992.2 "E590A,F160L,H196P,K391E,Q170H,Q208R,R114Q,R157H,R346Q,S191T" "0,0,0,0,0,0,0,0,0,0" 54993 4980 sw6768;dbsnp10843 B3GN8_HUMAN;NP_940942.1 "A191V,A360E,D365G,E24K,F70L,R269Q,R2H,R30W,R326H,R342Q,R376W,R394S,S137G,S186F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374907 8643 sw6769;sws780;dbsnp18674 GALT5_HUMAN;NP_055383.1 "A940V,C854Y,D652A,D678A,G146R,G387E,I55M,L702R,P279L,P77L,P801A,P892S,Q489H,R443H,T179S,V630A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11227 2392 sw6770 DPCA2_HUMAN C91R 0 - 13506 sw6771;dbsnp13901 S1A7A_HUMAN;NP_789793.1 "A84T,A93V,D71E,E28D,G22R,G25D,Q101R,R23H,T4S,Y20H" "0,0,0,0,0,0,0,0,0,0" 338324 14518 sw6772;dbsnp9815;hgmd0613_2426 NEK8_HUMAN;NP_835464.1 "A497P,D400E,H425Y,H664Q,I307T,K639Q,L330F,M413L,R140L,R260H,R294C,R300Q,R349H,R349L,S382L,T667M,V303M" "1,0,1,0,0,0,1,0,0,0,0,0,0,0,0,0,0" 284086 4144 sw6773 PRNT_HUMAN T50S 0 149830 14725 sw6775;dbsnp2127 MRGRE_HUMAN;NP_001034254.1 "C270G,G159S,G15S,I59V,P209L,R204G" "0,0,0,0,0,0" 116534 10631 sw6776;dbsnp20530;dbsnp20531 PHLB2_HUMAN;NP_001127911.1;NP_001127910.1 "A318S,C349R,D290E,E144V,F786L,I1024V,K41R,L488V,M641T,N1132D,N825S,P190L,P191L,P191R,P940S,P941S,Q780E,R237G,R505I,R880K,R953W,S46I,S529T,S848T,S932N,Y1198C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90102 1271 sw6777;spmut788 GP126_HUMAN "K230Q,Q1127R,S123G" "0,0,0" 57211 1281 sw6778;dbsnp853 GP123_HUMAN;NP_001077378.1 "A171P,A183S,G545W,G72S,Q214L,R428Q,Y180C" "0,0,0,0,0,0,0" 84435 5683 sw6779;dbsnp13727 SDCG8_HUMAN;NP_006633.1 "A372G,A372V,A61P,A61S,D501H,E378D,E530K,P93L,Q460H,R365K,T191I,T329M,V322I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10806 3939 sw678 ZN208_HUMAN L1165H 0 7757 1203 sw6780;dbsnp14077 DHDDS_HUMAN;NP_995583.1 "K113N,K42E,R258Q,R47Q,S303L,V253M" "0,1,0,0,0,0" 79947 10054 sw6781;sws781;dbsnp2963 SYT9_HUMAN;NP_783860.1 "A482V,A7V,I238V,L353V,R166W,V154M" "0,0,0,0,0,0" 143425 6236 sw6782;dbsnp20589;hgmd0613_732 ILDR1_HUMAN;NP_001186728.1 "A76V,H500Y,I413T,L380F,L395S,P264R,Q352H,R221C,R433Q,R442H,R453Q,R463C,R97Q,S154L,S435R,T273A,T27M,W388R" "0,0,0,0,0,0,0,0,0,0,1,0,1,0,0,0,0,0" 286676 5896 sw6783;dbsnp5915 GLRX5_HUMAN;NP_057501.2 A146T 0 51218 13779 sw6784;dbsnp24553;dbsnp24554;dbsnp24555 CF001_HUMAN;NP_001008703.1;NP_001008704.1;NP_848603.2 "C18R,C83R,G130D,G150A,M141I,P91T,R63C,T22N" "0,0,0,0,0,0,0,0" 221491 13745 sw6785;dbsnp21970 TM11B_HUMAN;NP_872308.2 "D325A,I242V,I410N,L166P,P373S,R251Q,R287H,S152P,T17A,T307A,T348S,W196R" "0,0,0,0,0,0,0,0,0,0,0,0" 132724 8255 sw6786;dbsnp25028 DAAM2_HUMAN;NP_001188356.1 "A1054T,A167T,A939V,D29G,D836N,E75A,G18R,I856T,K776T,N439K,P198S,Q600R,R105H,R172H,R4C,R617H,R990L,T482M,V893L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23500 1788 sw6787;spmut2304 UBP37_HUMAN L979S 0 57695 2189 sw6788;dbsnp10540 K1328_HUMAN;NP_065827.1 "D515H,G349V,K454Q,R383C,R406Q" "0,0,0,0,0" 57536 5458 sw6789;sws782;dbsnp10472 ALPK2_HUMAN;NP_443179.3 "A1245T,A1551S,A1650V,A1978T,A202T,C853R,D1263E,D360N,D524G,E1485K,E1892D,E1969K,E320K,F863L,G1063V,G1264S,G1928E,G286C,G810S,H1032Q,H1174P,H1767Y,H436Q,H719Q,I1451T,I2112T,I2157V,K1134N,K1577E,K1712R,K1729E,K1730E,K2T,K762R,K829N,L1057V,L1148V,L1296V,M1441V,N916K,P1171T,P1449S,P1850L,P295L,P540L,P826T,Q1428R,Q1579R,R1331W,R136S,R1694Q,R1884C,R1913C,R1915H,R1935S,R386W,R765C,R825T,S1009A,S1156T,S1246Y,S388L,S775P,S884L,S977T,T1008R,T1172M,T397I,T875P,T891I,V1079G,V1211I,V520M,V776L,Y978H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115701 350 sw6791;dbsnp2265 LUZP2_HUMAN;NP_001009909.2 "A281V,E153A,E308Q,P299S,R165H,S89A" "0,0,0,0,0,0" 338645 9766 sw6793;spmut2112;dbsnp21704 TBCD1_HUMAN;NP_055988.2 "K1000T,Y685S" "0,0" 23216 1507 sw6794;dbsnp26912 WDR86_HUMAN;NP_938026.2 "C320R,D83G,G205S,G313S,M355T,P375L,R338C,S153G" "0,0,0,0,0,0,0,0" 349136 9073 sw6795;dbsnp10990 ZN554_HUMAN;NP_001096121.1 "C329Y,D250N,E190G,G237E,P38S,V211I" "0,0,0,0,0,0" 115196 6012 sw6796;sws783;dbsnp29909 DDX53_HUMAN;NP_874358.2 "A107S,A5T,D486N,E164K,G499V,H38R,I134V,M381I,R355S,R391M,R415H,R616Q,S27N,V62A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 168400 4609 sw6797;dbsnp1653;dbsnp1654 TRPT1_HUMAN;NP_001028850.2;NP_001153862.1 "A88T,F3L,G16S,H172R,I153T,L98F,N196D,P121L,R170W,R221C" "0,0,0,0,0,0,0,0,0,0" 83707 11806 sw6798;spmut1634;dbsnp13996 PRUNE_HUMAN;NP_067045.1 "A448V,C135Y,G397R,G397S,H108Y,H19R,I130M,I214V,P353R,S15F,S321F" "0,0,0,0,0,0,0,0,0,0,0" 58497 7527 sw6799;dbsnp5543 RM52_HUMAN;NP_848026.1 "A2V,F9L,G5E,G5V,K104R,R55H,V19A" "0,0,0,0,0,0,0" 122704 14355 sw679;spmut1780;dbsnp27514 RIPK2_HUMAN;NP_003812.1 "A263V,H16Y,I259T,K313N,L268V,M172T,N104D,N104H,S459L,T411S" "0,0,0,0,0,0,0,0,0,0" 8767 5981 sw67;dbsnp26110 LAMB4_HUMAN;NP_031382.2 "A1648V,A1700S,A1709D,C518F,D250A,E1444K,E1628G,G1465V,H1510Y,H234Y,H772Q,I1482L,L1633P,L460P,M44T,N866S,P1379L,P212T,Q474L,Q574H,Q731H,R1132G,R117T,R1612S,S630T,T1350N,T41M,T571M,V591F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22798 578 sw6801;dbsnp6260 SETD3_HUMAN;NP_115609.2 "A319T,D335N,M252T,N278D,R564S,T70S" "0,0,0,0,0,0" 84193 5206 sw6802;dbsnp6192 ACOT1_HUMAN;NP_001032238.1 "A189T,G276A,M186I,R266H,T249M,V275A" "0,0,0,0,0,0" 641371 6944 sw6803;dbsnp5476 CN037_HUMAN;NP_001001872.2 "A148T,A391V,D630G,E335D,P294A,P563L,P74S,Q542E,Q613E,R740C,R741Q,S734G,T115A,T345I,T651S,T96I,V21I,V528F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 145407 3415 sw6804 TTC6_HUMAN "A98T,I87S,T140I,T376S" "0,0,0,0" 319089 6299 sw6805;dbsnp5530 RBM23_HUMAN;NP_001070819.1 "D184N,D353H,D353N,F428L,M334V,R81W,R99H,T42S" "0,0,0,0,0,0,0,0" 55147 6126 sw6806;dbsnp5571 LPP60_HUMAN;NP_001073933.2 "A249V,A66D,C95R,L96V,S344R" "0,0,0,0,0" 374569 5515 sw6807;dbsnp5582 SPA11_HUMAN;NP_001073920.1 "D194H,E230A,L160F,M387I,P149S,Q294R,R146Q,R223C,T406S" "0,0,0,0,0,0,0,0,0" 256394 8106 sw6808;sws784;dbsnp5763 NOP9_HUMAN;NP_777573.1 "A518T,E112Q,E94A,E94K,G199E,G311S,H87Y,L425F,P51S,Q355R,R225W,R413C,R541C,S148N,S308N,S7F,T176M,T217I,T252S,T510M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 161424 4731 sw6809;sws786 PB1_HUMAN "A1098S,A256T,E1287Q,E160A,E206K,E226G,E922Q,G1177S,G1414E,G1503C,G340A,I228V,I233T,K925Q,P1079Y,Q1560H,Q90E,R1120Q,R1647C,R202C,R66G,R678C,T56A,T895S,V49L,Y144F,Y893C" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,1,1,1,1,0,1,1,1,1,1" 55193 652 sw680;dbsnp11363 ZN749_HUMAN;NP_001018855.2 "A405T,E101K,G370S,G500D,H769L,H98Y,I771R,K539E,L453V,P285L,Q243R,S709L,V147M,V557A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388567 3378 sw6811;dbsnp1918;hgmd0613_2043 TM135_HUMAN;NP_075069.3 "A354V,D425E,D58E,G218R,G430A,I388V,K295E,P193H,P9R,R241K,T194A,Y203H" "0,0,0,0,0,0,0,0,0,0,0,0" 65084 7440 sw6812;dbsnp24426 RSPH3_HUMAN;NP_114130.3 "A154V,E484K,G518D,H473P,L503R,M439T,N201S,N354K,P155R,P246R,P92S,Q521R,R213Q,R213W,R223Q,R362Q,R398Q,R461H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83861 5684 sw6813;dbsnp1993 OAF_HUMAN;NP_848602.1 "F148C,H210R,R217H" "0,0,0" 220323 11411 sw6814;dbsnp23801 MARH3_HUMAN;NP_848545.1 "R5H,R68Q" "0,0" 115123 11839 sw6815;dbsnp11401 ZN329_HUMAN;NP_078896.3 "H131R,N182D,N196S,N42H,P514S,R353Q,R8W,S174L,S523G,S99N" "0,0,0,0,0,0,0,0,0,0" 79673 5973 sw6816;dbsnp21943 SL9B2_HUMAN;NP_849155.2 "A152S,A216V,F357C,G117R,I159T,I292V,I427T,L132W,P415A,Q167H,Q167R,S178N,T218I,V161A,V186I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133308 6030 sw6817 TBC26_HUMAN "A206V,G234S" "0,0" 353149 5855 sw6818;sws787;dbsnp11299 ZN546_HUMAN;NP_848639.2 "A253V,A61V,C527R,E427G,E666K,G503A,H347P,K308E,L452F,L652F,P664H,Q201R,R243T,R430Q,R545I,R676W,R816C,S577R,T653M,T821I,V193I,V298E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339327 2996 sw6819;dbsnp27824 LYRIC_HUMAN;NP_848927.2 "A78S,L103V,R199K,R343L,S294P,T317A,V307F,V54M" "0,0,0,0,0,0,0,0" 92140 5378 sw6820;dbsnp18806 LRRT1_HUMAN;NP_849161.2 "A395T,D107G,G338S,I295V,N330S,V465G" "0,0,0,0,0,0" 347730 6258 sw6821;sws788;spmut2167 TLK2_HUMAN "A108G,A95G,E54D,H6R,R109L,R262Q" "0,0,0,0,0,0" 11011 3432 sw6822;dbsnp23578 SO6A1_HUMAN;NP_775759.3 "A27V,F164L,I172V,I582V,K381R,K710E,L601F,P527A,Q199P,R567T,R646Q,R646W,T423I,T654R,V128I,V324I,V607A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133482 3882 sw6825 ZN598_HUMAN "A608T,C725S,S453Y,T637M" "0,0,0,0" 90850 2592 sw6826;sws791;dbsnp6075 KTN1_HUMAN;NP_001072989.1 "A1341V,D1016G,D178V,D224N,D628N,E620A,E667Q,G267V,I1307T,I756T,K1348E,K64N,K708I,K708N,K809E,K823R,L307S,P49A,Q655R,Q866R,S1009N,T232A,T329A,V282M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3895 1055 sw6828;dbsnp835 CUZD1_HUMAN;NP_071317.2 "A546E,E43D,G156S,H554R,I149V,I285T,L21V,M1I,N169S,R231H,R539H,R596W,S31R,S55G,T96I,V246M,V373A,Y112C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50624 5053 sw6829;dbsnp25982 GTD2A_HUMAN;NP_775808.2 "E488K,H252R,H514N,K605N,K830Q,L497R,P445S,R716C" "0,0,0,0,0,0,0,0" 84163 2349 sw682;dbsnp27170 RASL2_HUMAN;NP_008920.5 "A130G,D113E,M352V,R123W,R432P,S5C,T108M,Y731C" "0,0,0,0,0,0,0,0" 10156 3185 sw6830;dbsnp20801 ZN589_HUMAN;NP_057173.2 "R292C,T12A,T216R" "0,0,0" 51385 9322 sw6831;dbsnp26139;hgmd0613_2346 ABCAD_HUMAN;NP_689914.2 "A1514V,A1792T,A2178E,A2223P,A3142V,A4T,D3443N,D4084V,E652K,E741A,E799K,F1540L,F2271L,G2349R,G3402R,G3779R,H1416R,H3609P,I1298V,I1331M,I1434V,I1444V,I1889K,I2608R,I2723M,I4577V,I4841V,I767S,K1098E,K2306T,K2436R,K2871T,L1630V,L2212S,L4047V,L4085P,L425Q,L4464M,N1088Y,N2033D,N3184S,N4277D,P4335A,P506L,Q2726R,Q4302R,R1076H,R1755S,R2484K,R2674W,R4043C,R4454C,R4843C,R555H,R648G,R847I,S2154L,S2537A,S780N,S895N,T1508I,T2839S,T4550A,V1057L,V2933M,V2944I,V4425L,V4482L,V941L,Y3851F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 154664 30 sw6832;spmut1354 NFE4_HUMAN "A45D,Q116R" "0,0" 58160 13372 sw6833;spmut1379;dbsnp29112 NOXA1_HUMAN;NP_001242996.1 "A107T,G457S,L137I,L99R,P286L,Q471R,R116W,R188W,R459W,R466H" "0,0,0,0,0,0,0,0,0,0" 10811 6959 sw6835;spmut639;dbsnp8603 EST1A_HUMAN;NP_060045.4 "A1374T,A972T,C278F,D231H,D275G,D313G,E1189K,E1192A,E1194G,E1242K,H1233R,H1294R,H858N,K294Q,K995R,L350V,M359V,N1281S,N276D,N341T,N575S,P233L,Q174K,Q92L,R1264Q,R279H,R291P,R351H,R404H,R984C,S687R,T471M,T523A,T523M,T91I,V1229G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23293 954 sw6836;dbsnp1507 NLRX1_HUMAN;NP_078894.2 "A19T,A726T,A793E,A843S,D925H,E192K,G307R,G307S,G4D,L124P,L193V,P137L,P63S,R125L,R219H,R252W,R26H,R403H,R471W,R547W,R68W,R707H,R743C,R944Q,S14P,S300G,T459M,T792R,V303M,V351L,Y330D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79671 2209 sw6837;dbsnp1475 CCD84_HUMAN;NP_940891.1 "R309C,T102I,V195L,W244G" "0,0,0,0" 338657 10092 sw6838;dbsnp14127 UBP48_HUMAN;NP_115612.4 "D251N,E135K,I796V,I799L,K446R,M128T,N224S,S125C,S525T" "0,0,0,0,0,0,0,0,0" 84196 1961 sw6839;dbsnp27126 TRI74_HUMAN;NP_942150.1 "C19S,P84L,V128I,W13R" "0,0,0,0" 378108 6887 sw6840;dbsnp20043 OSTA_HUMAN;NP_689885.4 "C103S,I272V,R146K,R241H,V202I" "0,0,0,0,0" 200931 9900 sw6841;sws792;dbsnp21765 N4BP2_HUMAN;NP_060647.2 "A277P,D611N,E118K,E635V,E861V,F1392V,G1737R,H927P,I622T,K1641R,M196V,M882I,N174S,N880S,P908S,P992Q,R593H,R841Q,S101I,S1223I,S1353R,T1587A,T1713S,T425N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55728 576 sw6842;dbsnp26659 CAPS2_HUMAN;NP_060424.9 "A298T,D1088N,M630I,M828V,T1094I,T1233M,T654S" "0,0,0,0,0,0,0" 93664 1063 sw6843;dbsnp26224;dbsnp26225;dbsnp26226 DTX2_HUMAN;NP_001096065.1;NP_001096064.1;NP_065943.2 "A245V,A258V,A94T,G384E,H441R,H441Y,I346T,M92T,N248S,P189L,Q622H,R174C,R215C,R281H,R354H,R365C,T339K,T421A,T421I,V128I,V226A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 113878 4879 sw6844 ITIH5_HUMAN "F925S,N207H" "0,0" 80760 2377 sw6845;sws793;dbsnp921 ST32C_HUMAN;NP_775846.2 "A454T,E467G,E467K,R470C,T334A,V266I,V315I" "0,0,0,0,0,0,0" 282974 6899 sw6846;dbsnp27767 FA83A_HUMAN;NP_116288.2 S431F 0 84985 7878 sw6847;dbsnp4224 NT5D3_HUMAN;NP_001026871.1 "A266E,G538R,M263T,P534S,R156W" "0,0,0,0,0" 51559 5745 sw6848;dbsnp16286 ZBT46_HUMAN;NP_079500.2 "A545V,G192R,G543R,T11A,V211L" "0,0,0,0,0" 140685 5280 sw6849;dbsnp444 FA35A_HUMAN;NP_061927.2 "A255T,A677V,E353G,F132L,K221E,L554F,M272V,R747H,S118F,S244G,S550C,T128I,Y537C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54537 3005 sw6850;dbsnp4162 AACS_HUMAN;NP_076417.2 "A470V,C425R,E14V,E564K,E564Q,I118V,K152N,L279V,N26S,R462Q,S612F,S655L,T322A,V236L,W340L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65985 4349 sw6851;dbsnp4227 ADR2_HUMAN;NP_078827.2 "A385S,C246W,Q39R,T307P" "0,0,0,0" 79602 8873 sw6854;dbsnp13010;dbsnp13011 LUZP1_HUMAN;NP_001136018.1;NP_361013.3 "A566D,A896V,D868N,G458S,L340V,Q461K,Q954R,R1006Q,R1061W,R257K,R281C,R751W,R876Q,R921W,R955K,S1034N,S317A,S440N,S651C,T491I,T727A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7798 1796 sw6855;dbsnp11619 PNML1_HUMAN;NP_060685.2 "A423S,C295Y,C97Y,D123G,D20E,E327K,L79M,P319S,R126H,R169S,R240C,R406Q,R406W,R431C,S80T,V158M,V196M,V350M,V66I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55228 7787 sw6856;dbsnp11495 ZN429_HUMAN;NP_001001415.2 "D288E,H195Q,H555Q,H650Y,I390V,R324W,T140N,T435I,V120I" "0,0,0,0,0,0,0,0,0" 353088 1203 sw6857;dbsnp27974 F16B2_HUMAN;NP_073586.5 "A311T,G667R,L684F,R631P,R631Q,T315A" "0,0,0,0,0,0" 64760 3676 sw6858;spmut245;dbsnp3958 C163A_HUMAN;NP_004235.4 "C38S,G56S,H117R,I342V,L1135I,M884V,N1104Y,N642K,Q964L,R1044C,R562C,S1124N,S570N,T1072I,T498M,T901M,V1066I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9332 898 sw6859;dbsnp20397 MORC1_HUMAN;NP_055244.3 "A395T,D462E,D602Y,D719H,D783G,E576G,E953K,F451V,F470I,H836Y,K273N,K322M,L786V,M478V,M649I,N955S,R315G,R475I,R518C,R518H,S767N,S788F,S982C,S982W,T153P,T679I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27136 2166 sw6860;dbsnp11837 S2542_HUMAN;NP_848621.2 "L312M,P9L,S39P,V100M,W132R" "0,0,0,0,0" 284439 10438 sw6861;dbsnp19995 PIGZ_HUMAN;NP_079439.2 "A124V,A206V,A266T,A274V,A337V,A511T,M467I,M487I,N288K,P200R,P207L,P22L,R155H,R340Q,R360W,R529H,T201I,T275M,V417A,V531M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80235 5430 sw6864;dbsnp87 NRAP_HUMAN;NP_932326.2 "A1055T,A1112V,A1270T,A132S,A1643S,A1678G,A282T,A344T,A647S,A674S,A674V,A82V,A917T,A940T,D1243V,D1569N,D484N,D966G,D966V,E1444K,E865K,F1069L,G1283S,G422E,G592D,H1246Q,I1060V,I1183V,I581T,I834T,K1105R,K1726E,K1726N,K1726T,L1011F,L1531P,L1684Q,M1022V,M1337T,N519I,P977S,Q186E,Q360R,Q988P,R1080Q,R1550W,R1566C,R1680W,R215W,R419H,R627G,R775Q,R884C,S1567G,S490L,V208A,V208G,Y249C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4892 608 sw6865;dbsnp28765 KIF27_HUMAN;NP_060046.1 "E433K,E997D,G658E,H1053R,I109V,I210V,I213V,I65V,I987V,K925N,L998F,M1147V,M735V,N1036D,N1043I,N23S,Q756H,R1164Q,R260W,R300Q,R717C,R939C,R990H,S321F,S388R,S612C,S651A,T316A,V1380I,V313I,V559L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55582 980 sw6866;sws795;dbsnp7854 EX3L1_HUMAN;NP_848611.2 "E432K,G232R,G509A,H260R,H449R,I385V,N579S,P144L,P44L,Q561E,Q73L,R123G,R167Q,R225H,R242G,R30Q,R43W,R566Q,R60H,S634G,V202A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283849 3650 sw6867 IQGA3_HUMAN "D645N,H770Y,P1097S,Q1061H,R391G,R663C,V410L" "0,0,0,0,0,0,0" 128239 683 sw6868;dbsnp9654 S47A2_HUMAN;NP_690872.2 "A561T,A73V,F314L,G14D,G429R,G81R,K106N,L112P,P162L,P454T,R578H,T541I" "0,0,0,0,0,0,0,0,0,0,0,0" 146802 5111 sw6869;dbsnp8076 ZCH18_HUMAN;NP_653205.3 "A116V,A368T,A41V,A55V,A723T,A824V,A915D,G175R,G913S,P92R,R381C,R381H,R440H,R455C,R560Q,R573L,R753M,R858Q,R90Q,S550C,S636L,S774L,T611I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124245 2320 sw686;dbsnp21950 AN32C_HUMAN;NP_036535.1 "A15V,A23V,A36G,E188K,E189D,E204G,H171Q,I57V,K112R,K133E,K62M,L105P,L24M,Q137K,R71K,S200G,V215I,V72D,Y140H,Y90N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23520 11529 sw6870;sws796;dbsnp26492 TAXB1_HUMAN;NP_006015.4 "H243R,H429Q,L307I,Q336R,Q546H,R395C,R395G,R712H,S58N,T520A,V170F,V505I" "0,0,0,0,0,0,0,0,0,0,0,0" 8887 3295 sw6871;dbsnp5826 PACS2_HUMAN;NP_056012.2 "A166V,A341T,A742T,A887P,D266E,D577N,I881V,L493S,P710L,S61A,T185A" "0,0,0,0,0,0,0,0,0,0,0" 23241 2265 sw6872;dbsnp3598 CAND1_HUMAN;NP_060918.2 "A1209V,A952V,N599K,N603S,P1187S,R364K,S242I,S242N,S714N,T570P,V803A" "0,0,0,0,0,0,0,0,0,0,0" 55832 1319 sw6874;dbsnp10413 TXND2_HUMAN;NP_001091999.1 "A225P,A366T,A461T,A547T,D133V,E146D,E341K,F444V,G342R,G357D,I239T,I314L,K385E,K391N,P159H,P171L,P231A,P234T,P255S,P318L,P369H,R487T,S285P,T351A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84203 5795 sw6875;dbsnp11721 VS10L_HUMAN;NP_001157394.1 "A578D,D166V,M356I,N3T,R592Q,R615P,R627H,R806S,S715F,S853P,T205I,V297M" "0,0,0,0,0,0,0,0,0,0,0,0" 147645 2788 sw6876;dbsnp2529 FJX1_HUMAN;NP_055159.2 "M153L,R415H,V207M" "0,0,0" 24147 7820 sw6877 IQCH_HUMAN V932L 0 64799 1992 sw6878;sws797;dbsnp27945 HOOK3_HUMAN;NP_115786.1 "K529R,K529T,L454I,N56K,Y670S" "0,0,0,0,0" 84376 3803 sw687;sws79;dbsnp22214 GRID2_HUMAN;NP_001501.2 "A196E,A21V,A491V,F316V,F398S,F974Y,I97T,K673M,M193V,N302T,P678A,S667F,T68M,V490I,V740I,W18R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2895 2074 sw688 SYNJ1_HUMAN L1545P 0 8867 719 sw6880;dbsnp10290;hgmd0613_2394 RTTN_HUMAN;NP_775901.3 "A2149T,C1113S,C1113Y,C2013F,D212A,F1761S,G1111A,H1742R,H935R,I214T,I641V,K245R,M1617T,N1715D,N555K,P1112S,P306S,P76L,S126A,S1687C,T1398M,T486M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25914 325 sw6881;dbsnp18195 SESD1_HUMAN;NP_835224.3 "D185N,N447S,P8T,R574Q,V563A,Y49F" "0,0,0,0,0,0" 91404 4109 sw6882;dbsnp24414 S22AG_HUMAN;NP_149116.2 "A200V,A426E,E232G,E72Q,G481S,H49R,I503V,L555P,M409T,R182Q,S191N,S375L,S480R,S70N,V252A,V431I,V432I,V61I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85413 5459 sw6883;spmut126 ARHGP_HUMAN "C253Y,G397R" "0,0" 115557 4929 sw6884;dbsnp27579 TSYL5_HUMAN;NP_277047.2 "A118T,A21S,A288P,H357Y,I365V,N242S,P136L,R348C,S275N,S279G,T120S,V129M" "0,0,0,0,0,0,0,0,0,0,0,0" 85453 8238 sw6885;dbsnp25127 LRP11_HUMAN;NP_116221.3 "A208V,A456V,D319N,G442R,I432T,L186F,L211R,M353V,P92R,R351H,T281M,T295I,V258G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84918 6666 sw6886;dbsnp15605 CP4Z1_HUMAN;NP_835235.1 "A377G,M155V,P393L,P50S,R137C,R176H,R225C,R281H,R396C,S267C,S267F" "0,0,0,0,0,0,0,0,0,0,0" 199974 6325 sw6887;dbsnp10415;dbsnp10416 ZSC30_HUMAN;NP_001159484.1;NP_001106205.1 "I378S,M209V,Q238P,R223W" "0,0,0,0" 100101467 6082 sw6889;dbsnp10847 NAL13_HUMAN;NP_789780.2 "A860V,C941R,D293G,E104K,E104Q,E147K,E166K,E644K,F419I,F498S,G529V,I513T,K350E,K682N,L1004F,L287W,L71I,M566T,N781S,N930H,N991S,Q247R,Q26R,R205H,R392Q,S263F,T535I,T721M,V239A,V954M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126204 1927 sw6890;sws799;dbsnp10848 NALP8_HUMAN;NP_789781.2 "A234T,A543V,A724E,A724V,A726T,A992E,E258K,H185Q,I12L,I12V,I752M,I942M,K236R,K640R,K937R,L64F,P25L,P892L,Q268R,Q367E,Q865R,R118C,R237C,R237H,R429Q,R617Q,R651W,R690C,R789H,T323M,V116L,V271M,V48M,V571M,V782A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126205 1906 sw6891;dbsnp9119;dbsnp9120;dbsnp9121;dbsnp9122;dbsnp9123 AMZ2_HUMAN;NP_001028743.1;NP_001028744.1;NP_057711.3;NP_001028741.1;NP_001028742.1 "D233N,E349K,H146Q,H331R,L22V,N142S,N30D,V141L" "0,0,0,0,0,0,0,0" 51321 9417 sw6892;dbsnp4869 KCMB4_HUMAN;NP_055320.4 "I192V,V199I" "0,0" 27345 12745 sw6893;dbsnp9584 MET16_HUMAN;NP_076991.3 S479N 0 79066 5652 sw6894 CB084_HUMAN Y140C 0 653140 12832 sw6895 LIPB1_HUMAN V148L 0 8496 2065 sw6896;dbsnp9776;dbsnp9777;dbsnp9778;dbsnp9779 S2611_HUMAN;NP_001159819.1;NP_001159820.1;NP_001159821.1;NP_775897.3 "A249T,A259V,A293G,A545T,E534K,G274R,G352S,G452S,G566R,K326R,L30V,M86L,P182A,P182L,Q568H,R335C,R557C,S298F,S356C,T441S,V410I,Y122C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284129 5065 sw6897;spmut1363;dbsnp26103 NIPA_HUMAN;NP_057562.3 "A176G,I305V,M169I,P42L,Q8R,R185G,R185S,R351Q,R363H,R416Q,R494Q,S289L,T206I,T271A,T28N,V14I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51530 6618 sw6898;dbsnp24396 UN93A_HUMAN;NP_061847.2 "A220V,A327T,E231A,F404L,G149S,G152D,G178E,K128Q,M403I,M403T,P436L,R388C,R6K,T118A,T118M,V292I,V295M,V308M,V409I,V417I,V445A,Y387H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54346 7454 sw6899;dbsnp25128 OSTM1_HUMAN;NP_054747.2 "L52F,R266Q" "0,0" 28962 10038 sw689;dbsnp1862 FIBP_HUMAN;NP_942600.1 "D230G,G216A,G216D,I41M,L359R,M351V,P73S,R143Q,R152W" "0,0,0,0,0,0,0,0,0" 9158 9316 sw68;dbsnp26006 CPED1_HUMAN;NP_079189.4 "A337V,A551G,D395E,E441K,E708G,G654S,H1002Y,I326T,K619N,K949T,L448S,P139L,P225S,Q321H,R941H,S735L,S866F,T739M,T81A,Y107C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79974 1995 sw6902;dbsnp2190;hgmd0613_2131 MTMRD_HUMAN;NP_112224.1 "A694V,E679K,G775S,H1523Q,I1277M,I1565V,K1602R,L1098V,P1366S,P303L,Q1216E,Q733E,R1508C,R1686S,S1685W,T1097N,V1371L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81846 524 sw6903;dbsnp4492 RASF3_HUMAN;NP_835463.1 "D206H,E88G,N107S,N98D,R232H" "0,0,0,0,0" 283349 12164 sw6904;dbsnp27412 PKHL1_HUMAN;NP_803875.2 "A2086T,A69S,A957E,D2598G,D3437G,D3607E,D708N,D797E,F558V,G1145A,G1223V,G2594E,G3270S,G4176E,H1528Y,H2822Y,H3050Q,H3803R,H923R,I164V,I1872L,I3411V,I578L,K2074R,L3605F,L3862F,L4236S,L423R,M265T,N1005S,N1362H,N2764T,N362S,P1430L,P1832S,Q702P,R1514S,R2572Q,R413H,S3598R,T1066A,T1192A,T1349N,T1539R,T2253I,T3104I,V1607I,V1637L,V1965L,V2453A,V2777I,V3080I,V3182A,V4220I,W373C,Y1638C,Y440H,Y943H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93035 68 sw6905;sws800;dbsnp7329 NLRC5_HUMAN;NP_115582.4 "A155T,C500R,D1257N,E1417K,E142V,G1005C,G1346S,G835S,H857R,K1326N,L1114F,L1598I,M968L,N907D,P1696Q,P191L,P453L,Q1105K,Q115R,Q1360H,Q1466R,Q427H,Q687K,R1104H,R1126C,R1300H,R1430H,R152Q,R1734H,S1645G,S1846G,S210L,S692I,S833N,S906R,T1354M,V1455A,V499I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84166 512 sw6906;spmut347 CHD1L_HUMAN "A885S,R25P" "0,0" 9557 2627 sw6907;dbsnp14251 MPRA_HUMAN;NP_848509.1 "E71K,G272R,R15Q,S131C,T322M,T64M,V227M,Y48C" "0,0,0,0,0,0,0,0" 164091 9767 sw6908;dbsnp22957 FCSD1_HUMAN;NP_258260.1 "A551T,D661A,H268R,L101F,N173H,N344K,P303L,P681L,Q358P,R668K" "0,0,0,0,0,0,0,0,0,0" 89848 4168 sw6909;dbsnp28523 IFNE_HUMAN;NP_795372.1 "K145N,K188N,N43S,P207L,Q46H,T106M" "0,0,0,0,0,0" 338376 12781 sw690;dbsnp13290 IF4G3_HUMAN;NP_003751.2 "A1085G,A1085V,A477T,D1185E,E1200D,G1026S,I279V,I446V,M1327T,M548L,P429A,P496A,P81H,Q378R,Q500H,R1092W,R515W,R980K,S549N,T1113M,V1038L,V257I,V439I,V540A,V604F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8672 712 sw6910;dbsnp23215 GPBP1_HUMAN;NP_075064.1 "I57V,L183S,N193S,R122G,R319C,R78K,T223A" "0,0,0,0,0,0,0" 65056 7012 sw6911;dbsnp271 CJ047_HUMAN;NP_694988.3 "A117T,A412V,D83N,E203K,G223R,G30S,L94M,L94V,P92L,R35Q,R40H,R6W" "0,0,0,0,0,0,0,0,0,0,0,0" 254427 7857 sw6912;dbsnp4548 CL040_HUMAN;NP_001026918.2 "C345Y,E22D,E92Q,I13L,K468M,S402C,T563A,V586I" "0,0,0,0,0,0,0,0" 283461 4570 sw6913 TMPSC_HUMAN "A127T,E62K,Y19H" "0,0,0" 283471 9709 sw6914;dbsnp19351 TT30A_HUMAN;NP_689488.3 "A88G,I661V,K577R,N537D,P130S,P279H,R217H,R220H,R237C,R237H,S178A,T180K,T273A,V158I,V236I,V446I,Y622H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92104 4421 sw6915;dbsnp6631 TRI69_HUMAN;NP_892030.3 "A190V,D12N,D15N,D441G,I399F,K104R,L178F,N239K,Q301H,Q315K,T161M,T261K,T261M,V31A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140691 6667 sw6916;dbsnp7926 LDHD_HUMAN;NP_705690.2 "E449K,R233K,R341C,R443S,S331Y,S388P,Y86C" "0,0,0,0,0,0,0" 197257 6526 sw6917;spmut1952;dbsnp8994 SKAP1_HUMAN;NP_003717.3 "G161S,G74R,I63T,R322H,R43Q,R43W,S206R,S242G" "0,0,0,0,0,0,0,0" 8631 9450 sw6918;spmut2171;dbsnp23157 TM173_HUMAN;NP_938023.1 "A21T,A262T,A313T,E38K,G151V,G158E,G230A,H232R,L126I,P11L,Q359R,R220H,R293Q,R375L,R71H,V194L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340061 9000 sw6919;dbsnp19857;hgmd0613_558 COA5_HUMAN;NP_001008216.1 "A53P,R71K,R71T" "1,0,0" 493753 14859 sw691;sws80;dbsnp17561 TBX1_HUMAN;NP_542377.1 "A393T,T350M" "0,0" 6899 6737 sw6920;dbsnp17829 AROS_HUMAN;NP_919307.1 "E124A,P22S,T82K,V108M" "0,0,0,0" 91582 14151 sw6921;dbsnp5944;dbsnp5945 HEAT4_HUMAN;NP_976054.2;NP_001207413.1 "A468D,A635T,C14Y,C661F,E449K,G912E,I499S,K521E,L295M,L634H,M855I,N381K,P163H,P527L,R112W,R158Q,R158W,R238C,R509W,R511Q,R564G,R564Q,R564W,R759C,R814Q,S1016T,T138S,V660A,V838M,W643G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 399671 1997 sw6922;dbsnp9733 CDR2L_HUMAN;NP_055418.2 "D269A,D300E,H421Q,M257I,R428W,V144M,V302I" "0,0,0,0,0,0,0" 30850 7297 sw6923;dbsnp19139 TMM17_HUMAN;NP_938017.2 "G26S,R180W,S20T,S22T" "0,0,0,0" 200728 13005 sw6924;dbsnp13401 HORM1_HUMAN;NP_115508.2 "R367K,S268N,S304F,S330T,T267I,V212A" "0,0,0,0,0,0" 84072 8703 sw6925;dbsnp14992 RGPS2_HUMAN;NP_689876.2 "H342Y,N225S" "0,0" 55103 5365 sw6926;dbsnp12091 LSR_HUMAN;NP_991403.1 "D441G,D573Y,E633K,E645Q,G156E,H568Q,P337L,P468R,P549S,S363N" "0,0,0,0,0,0,0,0,0,0" 51599 4599 sw6927;dbsnp6829 LRC28_HUMAN;NP_653199.2 "A262T,E82V,I263V,L72R,R109H,R168H,T8M" "0,0,0,0,0,0,0" 123355 9254 sw6928;dbsnp27551;hgmd0613_1636 TILB_HUMAN;NP_036604.2 "A158S,G388S,I317V,I448T,I466T,I78V,L240S,P288H,P464L,Q192E,R11Q,R11W,T232I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23639 7281 sw6929 CX067_HUMAN R470K 0 340602 6603 sw692;dbsnp26231 MGA_HUMAN;NP_004659.2 "A1260S,A88V,A937T,D61H,E976A,F699L,H136R,I25V,I811T,L1638I,N858D,P1220R,P1424T,Q404H,R1156Q,R1333G,R401C,R729H,S542L,T907M,Y1277C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8972 518 sw6930;dbsnp6665;hgmd0613_1716 CHSS1_HUMAN;NP_055733.2 "E624A,I534L,K351R,L384F,M410T,M442T,P359S,P539R,Q652H,Q653E,R233Q,R244W,R588T,R705P,R705Q,T93S,V799L" "0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 22856 2703 sw6931;sws801;dbsnp27480 ERIC1_HUMAN;NP_997215.1 "A183P,A253T,A94T,D228V,D281E,D367V,E231A,G250C,G310R,G77R,G77S,M410I,P126L,R149Q,R403S,T219I,T293A,T32M,V202M,V21A,Y78C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157697 7707 sw6932 CQ082_HUMAN L186P 0 388407 11888 sw6933;dbsnp15402 FA72B_HUMAN;NP_001094380.1 "G82V,G99E,I131T,P94L" "0,0,0,0" 653820 13933 sw6934;dbsnp807 NUD13_HUMAN;NP_056985.3 "A48V,C5Y,G81D,H264Y,L112R,M273V,R161C,R161H,R211Q,R243C,S334F,T22A,T279I,V24A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25961 9604 sw6935;dbsnp20211 COMD2_HUMAN;NP_057178.2 "D168H,I113L,Q177H,V148M,Y67C" "0,0,0,0,0" 51122 12975 sw6936;dbsnp9498;dbsnp9499;dbsnp9500 MET23_HUMAN;NP_001193913.1;NP_001193912.1;NP_001073979.3 "D166N,E46Q,H57D,L141V,L190P,L59V" "0,0,0,0,0,0" 124512 13166 sw6937;dbsnp26696 F131B_HUMAN;NP_055505.3 "A307T,E205G,R310Q" "0,0,0" 9715 9435 sw6938;dbsnp462;dbsnp463 ZFAN4_HUMAN;NP_777550.2;NP_001121796.1 "D202V,E290K,E391K,E391Q,E551D,G407E,H358Y,I309L,K118T,L30F,L359H,P725S,R462Q,R547W,R586G,S473A,S706N,T301A,T523A,V335I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93550 3811 sw6939;dbsnp3087 SNX32_HUMAN;NP_689973.2 "A248T,A282V,H155N,P403T,R233C,R366Q,S354Y,S59L" "0,0,0,0,0,0,0,0" 254122 8214 sw6940;dbsnp1076;hgmd0613_2265 HOGA1_HUMAN;NP_612422.2 "A148V,A304T,A312T,C257G,D320Y,E315G,G287V,H153R,H62L,M292I,P311S,T185M,W7S" "0,0,0,1,0,0,1,0,0,0,0,0,0" 112817 10220 sw6941;dbsnp21021;dbsnp21022 DYRL1_HUMAN;NP_001182572.1;NP_789785.1 "D186N,P83A,V166I" "0,0,0" 200895 13223 sw6942;dbsnp18700 IQCA1_HUMAN;NP_079002.3 "C693R,D492G,E295K,E307K,G313R,K452R,K8M,M395V,Q362R,R461H" "0,0,0,0,0,0,0,0,0,0" 79781 3079 sw6943;dbsnp26341 CNDG2_HUMAN;NP_060230.5 "A652T,D182G,D952E,E84K,E867D,I247V,K601R,L464F,N614D,R185W,R516W,R697W,S705N,T794M,Y389H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54892 1570 sw6944;dbsnp27636;dbsnp27637 PPR3B_HUMAN;NP_078883.2;NP_001188258.1 "E279G,G186S,G48E,M49T,S41R" "0,0,0,0,0" 79660 11187 sw6945;dbsnp4220 GA2L3_HUMAN;NP_777602.1 "A126S,A551V,D223N,D580N,E222K,G390S,H476P,K670E,L461S,P305S,P395L,P419L,P500T,R18Q,R209Q,S493L,T673I,V335M,V7I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283431 4126 sw6946;dbsnp19110 FBX11_HUMAN;NP_001177203.1 "A112V,E234K,T126S,T296A,T325A" "0,0,0,0,0" 80204 2447 sw6947;dbsnp647 SFR1_HUMAN;NP_001002759.1 "D19G,P28S" "0,0" 119392 12006 sw6948;dbsnp29929 VSIG1_HUMAN;NP_872413.1 "D181V,N94H,T354K,V147I,V183M" "0,0,0,0,0" 340547 8097 sw6949;dbsnp3531 ANKL2_HUMAN;NP_055929.1 "A937T,D426N,E680K,H122Y,P691L,Q148E,R654Q,R720H,S647N,V354L,V506I" "0,0,0,0,0,0,0,0,0,0,0" 23141 2397 sw695 KLF4_HUMAN "L321F,T315S" "0,0" 9314 6425 sw6950;dbsnp11483 CTSRD_HUMAN;NP_689997.3 "E596D,G639R,G94S,H433R,I299V,I322V,M212T,P417S,R748H,S621L,S621W,T504A,T743S,T768M,V563M,V95A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 257062 3225 sw6951 ZN761_HUMAN "I168V,Q603E,S122I,S528G" "0,0,0,0" 388561 1203 sw6952;dbsnp5054 PRSR1_HUMAN;NP_079414.3 "A916S,G779R,L660F,L888V,P275L,P804T,Q889E,R583C,S490C,S847T,T526A,T710I,T728I,V557I,V571A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80209 2365 sw6953;dbsnp6431 PA24D_HUMAN;NP_828848.3 "A649G,A750T,D101A,E469D,E500G,E681K,F490L,G56E,G7V,H210Q,H210R,H729Y,K639Q,L475V,M659V,P10T,P275R,P516L,P516R,Q307K,R121Q,R333W,R573W,R601H,R747G,R783Q,R807Q,S434T,T174I,T570I,V322L,Y627C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283748 3099 sw6954;spmut495;dbsnp5191 DGKH_HUMAN;NP_821077.1 "C329Y,E1186G,G672S,H1106N,Q7P,R85L,R85Q,R907H,T229I,T325K,T533N,T908A,V1201A,V263L,W1151R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 160851 1360 sw6955;dbsnp18253 GKN2_HUMAN;NP_872342.2 "A162V,D65Y,I51V,N35D,S113N" "0,0,0,0,0" 200504 13282 sw6956;dbsnp23452 CTSR3_HUMAN;NP_821138.1 "A145T,C39Y,D206A,D273G,E240K,F65L,I122V,I275L,K294R,L134H,M337V,N204K,R239Q,R5C,S22L,S62L,V124I,V170M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347732 8624 sw6957 NIBL2_HUMAN I229T 0 199786 4099 sw6958;dbsnp1511 CEP57_HUMAN;NP_055494.2 "A9T,E137A,H317Y,I327V,L147S,L191H,Q111H,R226H,R448G,S32F" "0,0,0,0,0,0,0,0,0,0" 9702 6668 sw6959;dbsnp2101 ANGL5_HUMAN;NP_835228.2 "G309R,L98P,M79T,R192W,R269G,R277W,S175P,S303P,T253S,T268M" "0,0,0,0,0,0,0,0,0,0" 253935 8832 sw6960;dbsnp26474 TRI50_HUMAN;NP_835226.1 "A262T,F99C,G409S,L8P,Q147R,R192H,R221Q,R362H,V55L,V55M,W13R" "0,0,0,0,0,0,0,0,0,0,0" 135892 6887 sw6961;dbsnp11842 ZN677_HUMAN;NP_872415.1 "D48H,D56N,E400G,G254E,H79R,N501S,R499C,T314R,T576I" "0,0,0,0,0,0,0,0,0" 342926 5350 sw6963;dbsnp18205;dbsnp18206;dbsnp18207 VRK2_HUMAN;NP_006287.2;NP_001123952.1;NP_001123953.1 "D463A,F502L,G113E,H316Y,I157M,I167V,I214T,I35T,N135S,N196S,N211S,N50D,R358K,T142A,V233I,V496G,Y44H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7444 6504 sw6964;dbsnp23096 CONA1_HUMAN;NP_775736.2 "G102R,G283R,R195Q,R267W,S395T,T287A" "0,0,0,0,0,0" 91522 5986 sw6965;dbsnp23173 Z354C_HUMAN;NP_055409.1 "A372T,E133G,E135K,E248D,E250K,E553K,F546L,L539V,M72V,N172S,R185K,R404Q,V19M,Y524C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 30832 5783 sw6966 NUT_HUMAN "P22L,P985R,R1113H,T781M,T973N,V785E" "0,0,0,0,0,0" 256646 1622 sw6967 BAGE3_HUMAN "Q106R,R95T" "0,0" 85318 14545 sw6968 BAGE2_HUMAN "R106Q,R95T" "0,0" 85319 14545 sw6969;dbsnp23059 CD20B_HUMAN;NP_001163873.1 "C143Y,D31G,E17K,L234V,Q162P,R121C,R14H,R307W,R427C,R503W,S215P,S270I,S496A,S514F,T380I,T8P,T97S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 166979 6328 sw696;dbsnp13155 ARK72_HUMAN;NP_003680.2 "A142T,A229S,A312V,C214Y,E180K,G198S,L123V,P193S,Q157H,R120W,S255N,S290N,V135M,V166M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8574 9442 sw6970;dbsnp7573 GPR97_HUMAN;NP_740746.4 "A274V,A430T,A465V,G396S,G437C,I41N,P117L,P197L,R149C,R149H,R180C,R409C,R5S,T192P,T52A,T84M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222487 5854 sw6972;sws803;dbsnp3337 K2C73_HUMAN;NP_778238.1 "D284N,E322K,E363D,E365G,K111E,K395N,N157S,P96L,R129C,R212C,R508C,R508H,R75Q,S45I,T376M,T468R,V457A,V61M,V94M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 319101 4648 sw6973;dbsnp26401;hgmd0613_1847 HEAT2_HUMAN;NP_060272.3 "A233T,A572V,E478K,H236L,I440S,I563V,K445R,L468P,Q214E,Q855R,R403Q,R560C,R743K,S307R,T669I,V261I,V417I,V632A,Y782C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54919 2864 sw6974 KI18B_HUMAN Q527R 0 146909 2806 sw6975 CD021_HUMAN G451E 0 55345 375 sw6976;dbsnp15365 ECHD2_HUMAN;NP_001185890.1 "A25V,G242S,I237N,L227P,N119D,R115P,R115Q,R150L,R179H,R75Q,V290I" "0,0,0,0,0,0,0,0,0,0,0" 55268 11688 sw6977;dbsnp13260 ERO1B_HUMAN;NP_063944.3 "D129V,F415L,H465Q,I46T,K63N,K63Q,K93R,L411Q,P99R,R386H,S466G,T339A" "0,0,0,0,0,0,0,0,0,0,0,0" 56605 7244 sw6979;dbsnp2534 TMM25_HUMAN;NP_116169.2 "D167N,Q342R,R230Q,R293Q,R293W,R319W,S92I,V356A,W25C" "0,0,0,0,0,0,0,0,0" 84866 9279 sw6980;dbsnp4048 F90A1_HUMAN;NP_060558.3 "A234E,A384T,A91G,D6E,G148R,H119P,K115T,K76N,P295L,P295Q,P334L,P368L,P71Q,R123G,R238P,R343S,R440H,R4C,R4H,S255R,T137A,T348I,T410A,T57S,V254A,V254I,V356A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55138 7324 sw6981 ZN573_HUMAN G166A 0 126231 4111 sw6982;dbsnp5129 DZIP1_HUMAN;NP_945319.1 "C604W,G564D,K647E,M664L,N708H,P657L,P736S,R645T,S140L,S697F,T172M" "0,0,0,0,0,0,0,0,0,0,0" 22873 2789 sw6983;dbsnp17502 Z280B_HUMAN;NP_542942.1 "E256A,N220S,P299L,R84L,S157N,S90I,T354A,V313M,V414I,V522G,V522L,Y126S" "0,0,0,0,0,0,0,0,0,0,0,0" 140883 2188 sw6985;dbsnp15742 PHF13_HUMAN;NP_722519.2 "K121R,K20E,T153R" "0,0,0" 148479 10854 sw6986;spmut1178;dbsnp3788 MARH9_HUMAN;NP_612405.2 "I238L,N11D,Q257H,R312C,T307P" "0,0,0,0,0" 92979 8395 sw6987;dbsnp18735 THNS2_HUMAN;NP_060741.3 R324G 0 55258 6932 sw6988;spmut1504 PDPN_HUMAN A105G 0 10630 12172 sw6989;dbsnp23557 PRGC2_HUMAN;NP_573570.3 "A203P,A890T,D101E,D171G,D820N,D912Y,E446V,E528K,F872L,G109S,G31R,G404R,I906M,P264T,P714L,Q281R,R265Q,R292S,R330W,R372W,R413Q,R421C,R421G,R480Q,R893W,S239N,S256N,S389Y,S500L,T221N,T363M,T753M,V279I,V351M,V473L,V827F,Y21C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 133522 2016 sw698;dbsnp24822 E41L2_HUMAN;NP_001422.1 "A52T,A925T,E70A,E826G,E998Q,G721R,H855R,I648V,K171N,L118V,P350L,P555L,P79L,Q17H,R546W,R724H,R782H,R782L,T223I,T23I,T340A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2037 2089 sw6990;dbsnp11422 P66A_HUMAN;NP_060130.3 "D517N,M437V,N296S,R17Q" "0,0,0,0" 54815 4763 sw6991 POTED_HUMAN "E172Q,G113S,I135V" "0,0,0" 317754 1801 sw6992;sws805;dbsnp20420 MF2L2_HUMAN;NP_055893.2 "C275Y,C691G,D421N,F589S,F772L,G981R,I359L,K417M,M1015T,M29I,N277S,N414D,P479L,P982S,Q378L,R580W,R856C,R911C,S426T,S558L,S593N,S898N,T159M,T796N,T902A,V114I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23101 1678 sw6993;spmut1010;dbsnp1747 JAML1_HUMAN;NP_001091996.1 "A109V,G62R,I322M,I94N,K316N,R119H,R176C,R214H,R214L,S196T,V193A,Y72C" "0,0,0,0,0,0,0,0,0,0,0,0" 120425 8704 sw6994;dbsnp12244 RASL3_HUMAN;NP_075055.1 "A341T,A626V,A899V,G145R,L251V,P825T,R530Q,R594C,V426M" "0,0,0,0,0,0,0,0,0" 64926 2066 sw6995;dbsnp27492 SG223_HUMAN;NP_001074295.1 "A1111T,C288W,D339N,G1222S,G578S,H1077Q,H849R,H859Q,L122I,P193L,P567L,P593A,P660T,P812L,R1311H,R1313H,R137G,R208C,R402Q,R633C,S1001L,S243L,S313R,S576C,V1039M,V139I,V356I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157285 977 sw6996;sws806;dbsnp24819 MYLK4_HUMAN;NP_001012418.2 "C318Y,D194N,E39A,G50R,H358Y,Q373R,T126M,T64M" "0,0,0,0,0,0,0,0" 340156 3092 sw6998;sws807;dbsnp25343 TRML1_HUMAN;NP_835468.1 "D228E,H231P,L11V,L180P,M207T,T280R,V30M" "0,0,0,0,0,0,0" 340205 10632 sw6999;dbsnp20376 MD12L_HUMAN;NP_443728.3 "A2030D,D610Y,E464K,K1226Q,L887F,M1943V,N2130K,P1793A,Q401P,Q903H,R1210Q,R1698Q,R1920Q,S1779P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116931 360 sw699;spmut2148 TGON2_HUMAN "A86G,E322G,K103Q,L10V,Q105P,Q91L,R259W" "0,0,0,0,0,0,0" 10618 7001 sw69;dbsnp26885;hgmd0613_662 ISPD_HUMAN;NP_001094896.1 "A122P,A136V,A216D,G23C,P11R,R116C,R126H,T316K" "1,0,1,0,0,0,1,0" 729920 7570 sw6;spmut568;dbsnp1552;dbsnp1553;dbsnp1554 E2F8_HUMAN;NP_001243301.1;NP_001243300.1;NP_078956.2 "A507E,H362D,H98Q,I674V,N845S,P673R,R386C,S357C,S358T,V497D,Y785S" "0,0,0,0,0,0,0,0,0,0,0" 79733 2785 sw7000;dbsnp13562 HORN_HUMAN;NP_001009931.1 "C804S,D185N,D2820V,D62A,E1054K,E1524K,E1898K,E1994K,E2464K,E352K,E473G,E808D,E958K,G1019R,G1038D,G1051S,G1129S,G1210R,G1233S,G167D,G1680R,G1693R,G1703S,G1729S,G1807S,G1838C,G193S,G1944R,G1965S,G2069S,G2150R,G2173S,G2191S,G2277S,G2308C,G2332R,G2336D,G2461S,G258R,G2620R,G2643S,G2669D,G2669S,G2750C,G2758S,G2789V,G315S,G401S,G427D,G490S,G492R,G579S,G605D,G650S,G676D,G725S,G816V,G818R,G868A,G879D,G881S,G901E,G901R,G912A,G914S,G997S,H2710Y,H273Q,H2748Q,H2819R,H665Q,H791P,L1722S,L2662S,L2688S,L2770P,P2099S,P776H,Q1059L,Q175E,Q1912R,Q2781H,Q376R,Q519P,Q593H,Q826R,Q940H,R1028K,R1037C,R1053Q,R1056H,R122W,R1697H,R1715H,R1953Q,R2057Q,R2071H,R2167C,R2211C,R2382Q,R2447H,R2655H,R2677C,R2761Q,R291H,R413H,R506Q,R545C,R545H,R648S,R662C,R662H,R664Q,R778H,R85H,R882Q,R921Q,R991H,S1008I,S1008T,S1010T,S1018Y,S1036T,S1153T,S1565T,S1623T,S1714N,S1881F,S2155L,S2435G,S245T,S2505T,S2563T,S2625L,S2654N,S2666C,S2754G,S2754R,S2823N,S319T,S319Y,S393T,S431F,S463Y,S485T,S550Y,S680P,S705T,S714T,S721G,S763L,S799T,S802P,S803G,S803R,S809A,S822Y,S853R,S874Y,S878A,S878L,S890P,S937G,S979L,S980Y,T2015A,T798K,V694L,V8I,W132G,Y517C,Y563S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388697 165 sw7001;spmut880;dbsnp14803 HIPK1_HUMAN;NP_938009.1 "A1033V,A1054V,A622T,G310C,G926R,H180R,L1165V,L49P,N580S,Q6R,R1035H,T955I,T980A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 204851 1394 sw7002;dbsnp22106 KLOTB_HUMAN;NP_783864.1 "A747V,D339N,G710R,K815E,L44F,M638I,P65A,Q1020K,R309W,R504G,R728Q,R759T,S9Y,T983A,V1042I,V166A,V639I,Y906H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152831 1923 sw7003;dbsnp23589 CC125_HUMAN;NP_789786.2 "A429V,E318D,E71A,H362R,I153R,L344S,R69I,S48C,T161M,V13M,V164M" "0,0,0,0,0,0,0,0,0,0,0" 202243 6450 sw7004;dbsnp24379;hgmd0613_2393 RFX6_HUMAN;NP_775831.2 "A17E,E130G,E6K,G790E,G800A,H443Y,L610P,M583V,Q851H,R181Q,R578P,R726G,R813T,S217P,S21Y,S743N,T680K,T688A,V329I" "0,0,0,0,0,0,0,0,0,1,0,0,0,1,0,0,0,0,0" 222546 2443 sw7005;dbsnp10808 IL29_HUMAN;NP_742152.1 "E59D,G31E,N188D,P108S,R152W,R87H,T28A,V8M" "0,0,0,0,0,0,0,0" 282618 12959 sw7006;spmut468 DCP2_HUMAN F16L 0 167227 8150 sw7007;dbsnp9258 TMC8_HUMAN;NP_689681.2 "F130L,G342W,G488S,I396V,L305F,N306I,P154H,P524L,P661L,R222W,R455Q,T368M,V131L,V390I,V501I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147138 3820 sw7009;dbsnp12267 I2BP1_HUMAN;NP_056464.1 "A205V,A414D,A414G,M24I" "0,0,0,0" 26145 5351 sw7010;spmut1033;dbsnp828 KCC1D_HUMAN;NP_705718.1 "H290N,I66M,R126C" "0,0,0" 57118 8032 sw7011;dbsnp6451 CERS3_HUMAN;NP_849164.2 "D342G,H294R,L31V,N80D,R370G,R373K,T109M,V237L,V60I,Y45C" "0,0,0,0,0,0,0,0,0,0" 204219 8928 sw7012;spmut261;dbsnp429 CAHM1_HUMAN;NP_001001412.3 "A153T,A172P,A274T,A30T,A50V,A54E,A54T,G146S,G282C,G330D,L86P,M323I,R336C,R84W,R88H,T294M,V117I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 255022 9768 sw7013;dbsnp16261;dbsnp16262 WFDC8_HUMAN;NP_852611.2;NP_570966.2 "D139Y,K45T,M39T,M96T,N137S,P155Q,P48S,R100K,R126S" "0,0,0,0,0,0,0,0,0" 90199 12098 sw7014;dbsnp8867 ABCA9_HUMAN;NP_525022.2 "A491T,D968H,F505L,F929L,G1356C,G1356S,G620S,H1212Y,I1081F,I1201V,I288T,I586L,K1306T,K1415R,L883V,L995F,N1298S,N785S,N92K,P1368L,P1453T,Q1458P,Q1541H,R262Q,R353H,R67G,S780F,T1309I,T1335S,T1470K,T1470M,V601I,Y544N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10350 706 sw7015;dbsnp16388 WFDC3_HUMAN;NP_542181.1 "D47N,G176R,G198S,H36D,N217K,P51L,Q145E,R63L,R81W" "0,0,0,0,0,0,0,0,0" 140686 12304 sw7016;dbsnp16061 WF10B_HUMAN;NP_742003.1 "L12P,L8P,M70V,Y50F" "0,0,0,0" 280664 14767 sw7017;dbsnp17074 KR111_HUMAN;NP_787054.1 "C111S,C131S,P103L,R160Q,R72Q,S78F" "0,0,0,0,0,0" 337880 13661 sw7018;dbsnp12052 RHPN2_HUMAN;NP_149094.3 "A342P,A353T,A353V,A427V,A446T,A455T,G93W,H351Q,H357L,L297F,L385I,L571V,M275I,M417V,Q667E,R434W,R518C,R553W,R70Q,S471G,T238M,T266I,V278M,Y454D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85415 4204 sw7019;sws809;spmut2115;dbsnp11861;hgmd0613_2446 TCAM1_HUMAN;NP_891549.1 "A521T,A568T,A666T,D557N,G245S,G592R,G598W,L275V,Q534K,R180C,R75C,S160F,S186L,T32I,T4I,T623I" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 148022 3950 sw701;dbsnp2752;hgmd0613_1544 B3GN1_HUMAN;NP_006867.1 "F382L,T253S,Y222C,Y222F" "0,0,0,0" 11041 8273 sw702 ADA20_HUMAN F19L 0 8748 3400 sw7020;dbsnp19181 GLT13_HUMAN;NP_443149.2 "D378G,E59D,I180V,K37R,R426H,V397I" "0,0,0,0,0,0" 114805 5697 sw7021;dbsnp4233 RB6I2_HUMAN;NP_829884.1 "A720T,A756E,H77R,I629V,I935V,K458E,K660N,N303S,Q1057R,Q16H,Q886H,R1043H,R253S,R396H,R631H,R736Q,R963Q,S415N,S50G,T1032A,T122A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23085 1671 sw7023;dbsnp29804 TF2LX_HUMAN;NP_620410.3 "A212P,A9P,V197I" "0,0,0" 90316 12099 sw7024;dbsnp20294;dbsnp20295 MINA_HUMAN;NP_694822.2;NP_001035998.1 "A17P,A386T,D270N,H195R,K227Q,K323E,L89R,P140L,P201L,P358L,P63A,V254M" "0,0,0,0,0,0,0,0,0,0,0,0" 84864 7298 sw7025 KRA13_HUMAN "C34S,G92R" "0,0" 81850 13415 sw7026;sws811 MY18B_HUMAN "A2294D,G2395A,G2513S,G44E,H1119Q,I1399V,P177L,Q2347R,R2532Q,S1390F,S1444T,S925L,W1037S,W547C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84700 222 sw7027;dbsnp19685 CREG2_HUMAN;NP_722578.1 "P96Q,R123S,R251H,V159I,V216F" "0,0,0,0,0" 200407 11095 sw7028;dbsnp1894 ZDH13_HUMAN;NP_061901.2 "A404T,G373E,K99R,P575L,R461W,Y392C" "0,0,0,0,0,0" 54503 4880 sw7029;spmut2395;dbsnp4331 ZDH17_HUMAN;NP_056151.2 N383S 0 23390 4771 sw7030;dbsnp8629 SPP2C_HUMAN;NP_787078.2 "A328V,A332P,A332S,A332T,D554E,E209K,E209Q,E646D,E73K,G167W,G620R,H649Q,H77D,H77N,H77Y,I148M,I471V,L134M,L300M,L661R,M626V,P323S,P411A,P627S,P643R,P68S,P88L,Q137K,Q498R,Q653H,R123L,R123P,R123Q,R217H,R303H,R303L,R303P,R307Q,R307W,R342C,R461P,S224A,S224P,S224T,S566N,S601A,S601C,S601F,S601P,S601T,S601Y,T105M,T565S,T580A,T659I,T659N,T659S,V170I,V26L,V26M,V392I,Y46C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162540 4228 sw7031;dbsnp9470 CRLF3_HUMAN;NP_057070.3 "L389P,V202M,V236I" "0,0,0" 51379 7724 sw7032;dbsnp9695 PLDX1_HUMAN;NP_065138.2 "E461K,G255S,I277V,R149Q,R282C,R42L,R462H,R46Q,T303S,T76K" "0,0,0,0,0,0,0,0,0,0" 57125 6148 sw7033;dbsnp8590 CLC10_HUMAN;NP_878910.1 "A203G,C165R,C35R,G275R,G289V,H274Y,L170I,R33C,R3G,R73K,T100M,V186M,V57M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10462 10501 sw7034;dbsnp10749;dbsnp10750;dbsnp10751 TPPC5_HUMAN;NP_777554.1;NP_001035926.1;NP_001035927.1 S52A 0 126003 13206 sw7035;dbsnp3343 TMTC1_HUMAN;NP_001180380.1 "A361V,A409V,D614N,F492I,G190D,L249R,Q732R,R20L,R271W,R278Q,R306G,R515H,R877Q,V117G,V814L,V816G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83857 2705 sw7036;dbsnp24043 CRERF_HUMAN;NP_705835.2 "I423V,Q330R,S7G,T483A,Y220F" "0,0,0,0,0" 153222 4705 sw7037;dbsnp15979 EPHX4_HUMAN;NP_775838.3 "Q49R,Y321F" "0,0" 253152 9360 sw7038;dbsnp2615 T126B_HUMAN;NP_060950.3 "A198V,E230K,G212V,M197V,P156T,R166H,S42F,V28A,Y214C" "0,0,0,0,0,0,0,0,0" 55863 12321 sw7039;dbsnp17462 ABC3F_HUMAN;NP_660341.2 "A108S,A178T,D148E,E151D,E373K,I87L,L107M,N346S,N77K,P166Q,P97L,Q61L,R29G,R48P,S295G,S60F,V231I,Y307C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 200316 8880 sw7040;dbsnp25926 AEBP1_HUMAN;NP_001120.3 "A1031T,A200V,A776V,D430G,D469N,D648E,E1079K,I444L,K1133E,K89N,P1001L,P21L,P273T,P829T,P87L,R453Q,R732C,R745P,T473S,V1148I,V307M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165 1533 sw7041;dbsnp30154 EGFL6_HUMAN;NP_056322.2 "D535N,E376G,E66K,F368S,G114R,G378A,G39A,G39W,I218K,I446T,L508F,N168D,P309R,R103W,R164C,S115I,V75M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25975 5787 sw7042;dbsnp23548;hgmd0613_2359 AT2L2_HUMAN;NP_699204.1 "A209P,A212T,E437V,H126R,M415V,S341N,T173I,V440L" "0,0,1,0,0,0,0,0" 85007 6691 sw7043;dbsnp2369;dbsnp2370 SYT12_HUMAN;NP_001171351.1;NP_808878.1 "A417T,D330G,D58N,L405S,N170H,P267A,R380H,R420Q,V323I,Y273C" "0,0,0,0,0,0,0,0,0,0" 91683 8132 sw7044 LUR1L_HUMAN S62G 0 286343 12305 sw7045;dbsnp23544 CCNJL_HUMAN;NP_078841.3 "H234Y,P134L,S371W,V151I" "0,0,0,0" 79616 7858 sw7047;dbsnp5058;dbsnp5059 LACC1_HUMAN;NP_001121775.1;NP_694950.2 "D59H,G68R,I254V,K38E,K40E,L168S,P108L,P340S,R245Q,Y52C" "0,0,0,0,0,0,0,0,0,0" 144811 7945 sw7048;dbsnp20644 CCD71_HUMAN;NP_075054.3 "A331T,K334R,M107V,P220A,Q317L,W339R" "0,0,0,0,0,0" 64925 7259 sw7049;dbsnp22939 K0825_HUMAN;NP_001139150.1 "A1188T,A851T,F363S,F780V,H678P,I696L,I696M,K46E,L1219M,L323F,L426F,L461R,N1151S,N260D,N732K,N840D,R233K,R418I,R681H,S862T,T1177M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285600 1214 sw704;dbsnp18770;dbsnp18771 WIPF1_HUMAN;NP_003378.3;NP_001070737.1 "A495G,G71D,P11L,P198L,P217L,P346L,P410H,R158K,R438K,S326R,S41N,S91R" "0,0,0,0,0,0,0,0,0,0,0,0" 7456 6601 sw7050;sws812;dbsnp20946 WDR49_HUMAN;NP_849146.1 "A464V,H227Q,H677Q,I164V,I580T,I617T,K463N,K53E,L292S,L651P,Q185P,R10C,R30W,R381G,R469I,V68I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151790 4100 sw7051;dbsnp456 PSTK_HUMAN;NP_699167.2 "C134S,G206R,H40Y,K304M,V94I" "0,0,0,0,0" 118672 9710 sw7052;dbsnp24416 UN5CL_HUMAN;NP_775832.2 "A216T,C221S,D146E,G441S,M368V,N362S,P499R,R192H,R211W,R342C,R432G,S148L,S261F,S435F,T312A,V251I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222643 6343 sw7053;spmut625;dbsnp27540 ERI1_HUMAN;NP_699163.2 "A86T,F122C,L16P,N121S,P24R,S333Y,S56P,T221A" "0,0,0,0,0,0,0,0" 90459 9683 sw7054;dbsnp6529 LYSM2_HUMAN;NP_699205.1 "A176T,G153R,I107V,L197P,N126D,P6A,Q186R,S164F" "0,0,0,0,0,0,0,0" 256586 12634 sw7055;dbsnp11821 DEN1C_HUMAN;NP_079174.2 "A23T,A542V,K671E,M569L,M569V,R377W,R489C,R765Q,S580R,T154K" "0,0,0,0,0,0,0,0,0,0" 79958 3204 sw7056;dbsnp26534 PRR15_HUMAN;NP_787083.1 "P115A,P115S,P115T" "0,0,0" 222171 14257 sw7057;dbsnp19002;dbsnp19003 GRP3_HUMAN;NP_733772.1;NP_001132960.1 "G282S,L56V,Q234R,R103Q,T393A,V105A" "0,0,0,0,0,0" 25780 3235 sw7058;dbsnp11262 VRK3_HUMAN;NP_057524.3 "A293T,A325S,C128G,C288Y,F171L,H304L,I312T,K141R,P105T,R370C,S127R,S170P,S268L,S371G,S59F,T188A,V28I,W65R,Y342C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51231 7127 sw7059;dbsnp29942 PASD1_HUMAN;NP_775764.2 "A756V,D324G,E386K,M258V,N13K,P328Q,P736S,Q213E,Q215R,R537Q,S102A,S238L,T675P,T716I,V293M,V452I,V593I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139135 3421 sw705;sws81 AT8B1_HUMAN A1152T 0 5205 1273 sw7060;spmut391;dbsnp1370 CNGA4_HUMAN;NP_001032406.1 "A488T,C444S,D398E,E553V,G133S,M541R,N296S,Q503H,R108H,R108P,R345Q,R389Q,R498Q,R513H,T157A,Y369H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1262 3532 sw7061;dbsnp20393 SL9A9_HUMAN;NP_775924.1 "A187T,A269T,A603E,C556Y,D496N,G334E,I540V,I589V,L236S,P117T,V95I" "0,0,0,0,0,0,0,0,0,0,0" 285195 3824 sw7062;dbsnp11713 ZN584_HUMAN;NP_775819.1 "H109L,H112Y,H214R,P141L,P142S,R289Q,T301A,T67I" "0,0,0,0,0,0,0,0" 201514 8133 sw7063;dbsnp25963 NUDC3_HUMAN;NP_056147.2 "A5S,D298G,E123K,I167V,R235C,T3A,T3P" "0,0,0,0,0,0,0" 23386 9390 sw7064;dbsnp18502 PKHH2_HUMAN;NP_742066.2 "A1427V,A567T,A578V,E53K,E53Q,E625K,E970D,K426R,L1463F,L386M,M228L,M228V,M324I,M564T,N1217S,P1159Q,P204S,P481A,P481L,P481T,Q153R,Q852H,R1069K,R263Q,R865G,S1385C,T679M,V1342I,V29I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 130271 839 sw7065;dbsnp5456 AHNK2_HUMAN;NP_612429.2 "A1095D,A1175V,A1514V,A1538T,A1638V,A1650E,A2015P,A2472V,A3280D,A3778T,A3995V,A4085V,A4805V,A950V,C1872S,D1485E,D1490E,D2012E,D2111N,D2351N,D2429E,D3176E,D3176N,D3208H,D3793N,D4198N,D552N,D988N,E1148D,E1477G,E1685A,E1856D,E1948K,E2503A,E2723K,E3011D,E3029Q,E4483K,E825D,F1089L,F1663L,F3153Y,F4138L,F4704L,G1014E,G1263S,G1901S,G2253R,G2494R,G2824V,G3154R,G3654E,G5072R,G5139E,G5226S,G5564R,G5752R,G601D,G746A,G812A,H2060Q,H4845Q,I1842M,I2861L,I4071M,K1492R,K1822R,K2410R,K3142R,K3902N,K4232N,K4632Q,L1411V,L1470V,L1486V,L1749S,L2045V,L2146V,L2333P,L2428V,L2430V,L2911H,L3177V,L3564F,L4321V,L4326P,L5028M,M1298I,M1479L,M1624V,M2107V,M2119I,M2119V,M3260T,M3869V,M3961V,M4536L,M852I,M852V,P1136L,P1562L,P1673L,P1711L,P183L,P2014S,P2041L,P2180A,P2261S,P2387S,P2882L,P2986R,P3336L,P4148S,P4478L,P4755S,P4821S,P5397A,P539L,P683L,P744L,Q1639R,Q661K,Q726H,R2482K,R2862S,R3076H,R3241H,R418S,R5196H,R51G,R51W,S1150T,S1176T,S1341F,S2115R,S2175L,S2175T,S2848N,S3510P,S5185A,S820P,S855L,T1208A,T1488A,T3566M,T3849A,T3962M,T4664A,T525A,T5732M,T5732R,V1133I,V1266M,V1670A,V1724M,V1853A,V2437M,V2471L,V2616A,V3083I,V3363A,V3663L,V3796L,V3828M,V4278A,V4424M,V5501M,V856M,V991M,Y5184D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 113146 13 sw7066;dbsnp3950 DYH10_HUMAN;NP_997320.2 "A240T,A2855T,A3076V,A3767T,C1018Y,D1767E,D3052E,D3464E,D3513N,E1186K,E2740K,E3083K,F348L,G756S,H1053Y,H1170R,I1031V,I1760V,I4415V,I480V,K916E,L1631V,L2009M,L2335H,M1518V,M2491V,M368T,M717I,N1100S,N2483S,N985S,P2061L,Q250L,Q530P,R1037C,R1037H,R1764Q,R1865K,R2403W,R2839W,R339H,R3837C,R3837H,R409Q,R4352C,R581Q,R819Q,R995W,S167P,S2615L,S2973T,S3004R,S3208N,S3690L,S447L,S577Y,S823R,T1466M,T1724M,T1986M,T3165M,T332M,T4250K,V1291M,V1896M,V3091I,V3346L,V34M,V374M,V3816F,V773I,V954L,V979I,Y3518C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196385 56 sw7067 TIAM2_HUMAN S1089P 0 26230 640 sw7068;dbsnp28428 AN18A_HUMAN;NP_671728.2 "A277E,A897V,E130K,E838D,E945D,G900A,I574V,I919V,I969V,K914N,K934E,L264R,L560I,L682S,L990F,N484S,Q312H,Q851R,R265Q,R932Q,S727N,T942I,V384E,V902M,Y688C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 253650 2069 sw7069;dbsnp26164 SAM9L_HUMAN;NP_689916.2 "A458S,A522V,A566T,D120V,D169H,E383K,F289S,G1137A,G690D,I327V,L833F,N1504K,N1516T,P123L,Q1010E,R406Q,R638H,S96P,V266I,V361I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219285 743 sw7071;sws814;spmut1157;dbsnp18231 M4K3_HUMAN;NP_003609.2 "A410T,H424Q,H778Q,I532V,M1I,R482G,R744K,T255I,V200L,V322L,V322M" "0,0,0,0,0,0,0,0,0,0,0" 8491 2643 sw7073;dbsnp21005 APRG1_HUMAN;NP_848029.2 "A159T,F32L,G57S,H107Y,M1L,M4V" "0,0,0,0,0,0" 339883 13537 sw7074 NAV3_HUMAN E2200K 1 89795 272 sw7075;dbsnp2084 NAV2_HUMAN;NP_001231892.1 "A1195T,A1411T,A2122T,A286V,A352P,D1642E,D2032N,D2477E,E1041D,E2097K,E707A,F565L,G1088V,G1154S,G166E,G1783A,G375S,G718D,H2068N,I1456V,I2174V,K571M,L1482V,M1982V,P1077A,P2265S,P326Q,P328L,P57R,P600S,P801R,P923S,Q491H,R109K,R1608W,R2201C,R517Q,R611W,R613W,R757W,R857W,S1380N,S1975C,S311N,S398L,T1810P,T1878S,T534M,T650S,T839I,V2223I,V2374I,V676I,Y52C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89797 246 sw7076;sws815;dbsnp20125;hgmd0613_1877 P3H2_HUMAN;NP_060662.2 "E261V,E340K,E408K,F669L,G390E,G419V,G508V,H285Y,N503S,N650K,Q185H,R127C,R297C,S484R,V470I" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0" 55214 3999 sw7077;dbsnp3528 P3H3_HUMAN;NP_055077.2 "G385E,I283T,I685T,M705T,Q289R,Q723K,R304C,R543Q,R599W,T301A,T605P,T635M,Y197N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10536 3735 sw7078;sws816;dbsnp19021 CBPO_HUMAN;NP_775100.1 "D22A,E323K,E332D,I326V,M85I,N187S,P16S,P171A,P93S,S134R,S220N,V320F" "0,0,0,0,0,0,0,0,0,0,0,0" 130749 9113 sw7081;dbsnp27546 SBSPO_HUMAN;NP_694957.3 "F58L,R239L,R248Q,V77L,W186R" "0,0,0,0,0" 157869 11602 sw7082;dbsnp17279 FABD_HUMAN;NP_775738.3 "A303G,E387D,N229S,N300S,P26S,Q376H,R79G,S153T,V227M" "0,0,0,0,0,0,0,0,0" 27349 8797 sw7083;dbsnp20778;hgmd0613_2317 GLCTK_HUMAN;NP_660305.2 "F493C,H490Y,L170V,M128I,N263S,Q472E,R27C,R27H,S283F,T394I,T466I,V264E" "1,0,0,0,0,0,0,0,0,0,0,0" 132158 6237 sw7084;dbsnp11590 CS021_HUMAN;NP_775752.1 "A230S,A443V,A458V,A99T,E653G,F200L,F234L,G116R,K232R,P410S,R125H,R311K,R314Q,R341Q,R342Q,R390Q,R556H,R565Q,R667H,S156G,S269N,S394T,S84L,T172I,T658N,Y31H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126353 4278 sw7085 KSR1_HUMAN "Q661H,S225P,V357A" "0,0,0" 8844 2491 sw7086;dbsnp6849 IGDC3_HUMAN;NP_004875.2 "A697V,A780E,E403K,G662S,P723L,P738S,R224G,R702Q,R711H,T181S,T298M,V417I,V435M,V52I,V751L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9543 3119 sw7087;dbsnp22110 HERC6_HUMAN;NP_060382.3 "C199R,D814A,F343L,L469P,M123T,M745L,R578Q,S209R,T614I" "0,0,0,0,0,0,0,0,0" 55008 2019 sw7089;dbsnp16107 NKAI4_HUMAN;NP_690603.3 "A131D,A39D,C151G,E173D,G53S,K91Q,P188L,R104C,R110L" "0,0,0,0,0,0,0,0,0" 128414 12782 sw708;spmut363;dbsnp19250 CHSTA_HUMAN;NP_004845.1 "A10T,D172E,D258N,E340K,K23T,R242C,S146P,T232I,V20L,V314M,V34A" "0,0,0,0,0,0,0,0,0,0,0" 9486 9510 sw7090;dbsnp10193 ARL17_HUMAN;NP_001034172.3 "A64G,L170I" "0,0" 100506084 13416 sw7091;dbsnp23848 CDKL3_HUMAN;NP_001107047.1 "E550K,K352N,M394T,R478G" "0,0,0,0" 51265 5240 sw7092;dbsnp15020;dbsnp15021 CA210_HUMAN;NP_001158301.1;NP_872323.1 "L14H,N2S,R58H,S12L,T4K,T4R" "0,0,0,0,0,0" 149466 14504 sw7093;sws818;dbsnp34 VSTM4_HUMAN;NP_001026916.2 "A108V,A22V,A262T,A304T,F68S,K243R,R100L,R106W,S67Y,V187M,V33M,V84M,Y178C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 196740 10394 sw7094;spmut114;dbsnp19020 APLF_HUMAN;NP_775816.1 "D222E,D334N,H42L,H42Y,I100V,L336F,N169D,N173S,Q433K,R182K,S224T,S426P,Y82C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 200558 6451 sw7095 ZN695_HUMAN R84K 0 57116 1203 sw7096;spmut1174;dbsnp4348 MAPK5_HUMAN;NP_620777.1 "M67I,R282K" "0,0" 8550 7147 sw7097;dbsnp4944 NNRD_HUMAN;NP_001229810.1 V337G 0 55739 8802 sw7098;dbsnp5953 SPA12_HUMAN;NP_776249.1 "A356D,A373V,G327D,H354Q,I163T,I394V,L203P,M240V,N67K,Q142K,R301C,V304I" "0,0,0,0,0,0,0,0,0,0,0,0" 145264 8290 sw7099;dbsnp12953 ARHGJ_HUMAN;NP_694945.2 "C47R,E238Q,E282K,E713D,G163R,G18D,H130Y,H21Q,N787S,P273T,P460L,R204W,R218L,R633Q,W747R,Y621C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128272 3194 sw709;spmut1967;dbsnp6991;hgmd0613_1396 SMAD6_HUMAN;NP_005576.3 "A319V,A325T,A419V,C484F,K395R,P415L,Q479K,T341M" "0,1,0,1,0,1,0,0" 4091 6722 sw70;dbsnp26758 F221A_HUMAN;NP_954587.2 "A177V,A90T,C95R,H128R,K180N,P261T,P297T,P92L,Q102E,R123H,S199L,S240G,S240I,T62I,Y20H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 340277 10908 sw7100;sws820;spmut1222 MFN1_HUMAN P523R 0 55669 3541 sw7101;dbsnp11426 CTL2_HUMAN;NP_065161.3 "A178T,A405V,A462V,E552Q,F413L,F619L,I35T,I64T,L121F,L153F,N424S,P98T,Q154R,T303M,V230I,V230L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57153 3970 sw7102;dbsnp3498 CCD60_HUMAN;NP_848594.2 "A159D,A159T,A214E,A78T,E314A,G17E,G398D,I46V,L163H,M340L,N280I,R131C,R20Q,R234Q,R470H,R538Q,R67H,S547N,S547R,T115A,T168I,T370N,V393I,V4L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 160777 5843 sw7103;sws821;dbsnp8643 TEX14_HUMAN;NP_001188386.1 "A1321V,A433G,A63V,D119N,D700N,D88G,E1397G,E142D,E1433K,G1088D,I559M,I746V,K1202T,K1390R,K321N,L1426F,M144L,M565I,M666T,M666V,M766T,N786D,P215H,P957L,Q243E,Q430E,Q447R,R1314S,R285T,R6S,S443C,S470L,S915F,T451S,T518A,T727M,T832A,V183M,V264L,V468I,V468L,V494I,Y801C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56155 832 sw7105;dbsnp29637 MA7D3_HUMAN;NP_078873.2 "A610V,E502A,K559R,Q628R,R262C,R611H" "0,0,0,0,0,0" 79649 2729 sw7106;dbsnp17658 CC117_HUMAN;NP_775781.1 "K68E,R147S,S272N,T232I" "0,0,0,0" 150275 11291 sw7107;dbsnp8966;hgmd0613_2344 MFS6L_HUMAN;NP_689812.3 "A209T,A372T,A408T,C66Y,D101A,D574N,G114S,G399S,G501E,I339T,L121F,P214T,P318L,P366S,P485A,R243Q,R319Q,R486H,R517S,R547Q,R74L,S406L,S554L,T374P,T375I,T431M,V514M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162387 5323 sw7108;dbsnp21749 NXP20_HUMAN;NP_612398.2 "A194T,A366V,A561S,A92V,E107K,E398D,G84R,I66V,L116P,L116V,L347S,P201L,R161W,R206W,R367H,R457C,S322P,S40L,S446L,V402M,V443I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92689 5635 sw7109;spmut1556;dbsnp14616 PKHM2_HUMAN;NP_055979.2 "E297D,I32T,R249C,R362G" "0,0,0,0" 23207 2028 sw7110;dbsnp17398;dbsnp17399 FXRD2_HUMAN;NP_079231.4;NP_001095841.1 "D678N,E637D,F179L,F466L,G451S,I336M,I429M,K374R,N308S,Q189H,R221H,R71C,V177I,V420I,V456F,V677I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80020 4229 sw7112;dbsnp13100 WDR63_HUMAN;NP_660155.2 "A308T,D330N,I698V,I758L,P3A,P612L,R798H,R828C,T255M,T674A" "0,0,0,0,0,0,0,0,0,0" 126820 2654 sw7114;spmut755 GCC2_HUMAN "Q1134E,R1298G" "0,0" 9648 658 sw7115;dbsnp21700 GP125_HUMAN;NP_660333.2 "A1094V,A316P,A755V,G1084E,G1303C,G1303S,G528S,I141L,I722V,K509I,K852N,L160I,L798F,M874V,N1214T,N1276H,N1309S,N154S,N965S,P1076S,P18R,P350L,R157Q,R210Q,R378W,R568H,R577W,S289L,S94P,T1082M,T1196R,T208M,V1043M,V1166G,V1202M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 166647 1128 sw7116 SFPA2_HUMAN "L12W,N9T,V50L" "0,0,0" 729238 11628 sw7117;dbsnp143;dbsnp144;dbsnp146 SFTA1_HUMAN;NP_005402.3;NP_001158119.1;NP_001158116.1 "C85R,D73N,I81V,L50V,M13I,M66I,M66T,N210K,N9T,P193S,P5L,P62L,P91A,Q223K,R219W,T110A,V19A,V25I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 653509 11628 sw7118;dbsnp17727 HSC20_HUMAN;NP_741999.3 "I163M,I168L,Q160K,R11Q,Y73C" "0,0,0,0,0" 150274 12226 sw7119;dbsnp9862 STH_HUMAN;NP_001007533.1 "C126R,G28R,I25V,Q7L,Q7P,Q7R" "0,0,0,0,0,0" 246744 14280 sw711;dbsnp26342 XRCC2_HUMAN;NP_005422.1 "A16S,F270V,I221T,N167K,R188C,R188H,S205A" "0,0,0,0,0,0,0" 7516 11269 sw7120 RP1L1_HUMAN "A1285S,A624T,E1324G,E2171K,E2322G,E795K,G1335R,G1420E,G2149V,R136H,R56C,S1585L" "0,0,0,0,0,0,0,0,0,0,0,0" 94137 248 sw7121;dbsnp24780 CC28A_HUMAN;NP_056254.1 "G47R,P82L,S42Y,T271S" "0,0,0,0" 25901 11394 sw7122;dbsnp7462 Z3H7A_HUMAN;NP_054872.2 "D58N,H463N,H57R,H57Y,I331V,I474T,M301T,M364V,N3S,Q835H,R799G,T243S" "0,0,0,0,0,0,0,0,0,0,0,0" 29066 2233 sw7125;dbsnp24785 CUL9_HUMAN;NP_055904.1 "A1953T,A2255T,E1171K,E617K,G1917E,G282E,G282R,G530A,G902R,H2058P,K2291R,L1153I,P1518S,P2325L,P911L,P928L,Q1598K,Q1653E,Q2061R,Q297K,Q359E,R1759W,R2292Q,R2316W,R2389Q,R291K,R969H,S1451I,S1461L,S1467R,S1800F,S2328F,S725L,T1251M,T2180I,T584A,T896M,V1430M,V1479M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23113 238 sw7126;sws822;dbsnp26358 LMTK2_HUMAN;NP_055731.2 "A1147T,A1237G,A1341G,A570V,A862T,D1061N,D1220N,D1283E,E629K,G1066S,G497A,I635M,I693T,L780M,P1317S,P1463L,P30A,P816L,P831A,R234W,R691H,S1401N,S696N,S702P,S910I,S916R,S977R,T1091M,T1228M,T843M,V595I,V624M,V849F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22853 821 sw7127;dbsnp27884 ZNT8_HUMAN;NP_776250.2 "D295E,E44D,L45M,L74R,P359L,R165C,R325L,R325P,R325Q,R325W,V157M,V208L" "0,0,0,0,0,0,0,0,0,0,0,0" 169026 9222 sw7128;sws823;dbsnp16436;dbsnp16437 SULF2_HUMAN;NP_061325.1;NP_001155313.1 "A242T,A76P,A76T,E502K,G688D,H668Q,H677Y,L553M,M218I,M760L,P395L,R281Q,R674H,S236A,S534N,T206M,T600A,V350M,V360I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55959 2768 sw7131;dbsnp24942 UBR2_HUMAN;NP_056070.1 "A1095P,A1095S,A1095T,C837R,D135H,E126K,E172D,F1424L,H651Q,I1456V,M901L,P1473L,R1248T,R1292H,R1371T,R200Q,R332H,S1578G,S15R,S812N,T1462A,T154I,V1106I,V1184I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23304 583 sw7132;dbsnp418 RHG12_HUMAN;NP_060757.4 "F442S,K453N,N660S,R350C,R636Q" "0,0,0,0,0" 94134 2922 sw7133;sws825;dbsnp27440 HOT_HUMAN;NP_653251.2 "A3D,A432T,A457G,C449R,G57A,K341N,L68V,R442G,T212N" "0,0,0,0,0,0,0,0,0" 137872 7260 sw7134;sws826;dbsnp9462 UN45B_HUMAN;NP_775259.1 "A199V,A599S,A599T,A883T,C786Y,D373N,D546V,D732A,D904E,I217N,I852N,K377R,L312F,N326S,N395D,Q407E,R367C,R715G,R715Q,R778Q,V442M,V484A,V60I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146862 2366 sw7135;dbsnp11864 CHERP_HUMAN;NP_006378.3 "A487T,N199H,P42T" "0,0,0" 10523 2519 sw7136;dbsnp17293 SCUB1_HUMAN;NP_766638.2 "A461S,D194E,D817N,E876K,F784S,G311S,G398R,G473R,G673D,I49V,M107R,P435T,Q122R,R571Q,R591W,S475N,S648P,T225M,Y708H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80274 2114 sw7137;dbsnp6691 ZSC29_HUMAN;NP_689668.3 "E204K,E232Q,F660C,G199S,G837R,H790R,I259V,N271K,N607S,P146S,Q297R,Q506L,R104G,R228S,R462W,R563C,R587S,R697W,R806H,R842Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146050 2886 sw7139;dbsnp23138 ANKH1_HUMAN;NP_060217.1 "A133G,F2021Y,G1586S,G228C,K1733Q,L175M,L2179F,N1760S,N197K,N2453S,N813K,P2169S,P2386A,Q143E,Q2316R,R173Q,R2132Q,R389H,T2203P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54882 210 sw713;dbsnp16411 GON2_HUMAN;NP_001492.1 "A16V,A47V,A54T,H17P" "0,0,0,0" 2797 14402 sw7140;dbsnp20001 TRI42_HUMAN;NP_689829.3 "A346V,A565T,A579E,C50W,D502N,F184L,G456S,G528S,K244R,M203V,N137K,N319S,P160S,Q127E,Q397K,R245H,R384C,R468Q,R657Q,S114T,T113N,T563S,V475M,V497A,V630M,V696M,V697A,V7I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 287015 3853 sw7142;dbsnp11242 SUGP1_HUMAN;NP_757386.2 "E69K,G333R,K179R,K474N,P113H,P339S,Q568H,R290H,S248L" "0,0,0,0,0,0,0,0,0" 57794 4637 sw7143;dbsnp11668;dbsnp11669 SUGP2_HUMAN;NP_055699.2;NP_001017392.2 "G129A,G206S,G945V,H195R,I261L,L452I,M552T,M640V,N623S,Q649R,Q722R,R639Q,R881Q,T652P,T697A,T857A,V219A,V969L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10147 1779 sw7144;dbsnp23446 KIBRA_HUMAN;NP_056053.1 "E122D,E862V,E865G,G491S,G866E,K695R,L1108V,M734I,N606S,P274L,P570L,R1039C,R1100Q,R250C,R908Q,S735A,S754N,V280M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23286 1661 sw7145;dbsnp19178 CD302_HUMAN;NP_055695.2 "P212A,R200S" "0,0" 9936 508 sw7146;dbsnp7651 FOG1_HUMAN;NP_722520.2 "A110T,G70A,I230L,K431N,L367F,N972S,P46T,R22G,R298H,T191M,T210M,V240I" "0,0,0,0,0,0,0,0,0,0,0,0" 161882 2087 sw7147;sws827;dbsnp1042 CCAR1_HUMAN;NP_060707.2 "E681G,H989Y,K846M,M747V,P574L,Q72K,R353W,S1149N,T588I,V968I" "0,0,0,0,0,0,0,0,0,0" 55749 1557 sw7148;dbsnp5513;hgmd0613_1968 HOMEZ_HUMAN;NP_065885.2 "A278T,A302T,D538E,E515D,R502Q" "0,0,0,0,0" 57594 5844 sw7149;dbsnp11758 MCEM1_HUMAN;NP_777578.2 "I167V,K170E,K23Q,L175V,R57Q,S56A,T159M,V129I,V143I" "0,0,0,0,0,0,0,0,0" 199675 13228 sw7150;dbsnp658 F178A_HUMAN;NP_060591.3 "F945L,H514R,I149F,I566V,K145R,N1038H,N414S,N633S,P285L,P285S,R1046H,R214K,R388C,S541Y,S907P,V1170I,Y150C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55719 1466 sw7151;dbsnp27469 FBX16_HUMAN;NP_758954.1 "M254I,P287L,R251T,R64H,R75Q,T166S,T255N,T255S" "0,0,0,0,0,0,0,0" 157574 11044 sw7152;dbsnp24961 SCUB3_HUMAN;NP_689966.2 "A505D,A632T,D773N,E848G,E941K,G674V,L342F,L390P,Q317E,R434Q,R579W,R599C,R802H,S410L,T231A,T444M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222663 2114 sw7153;dbsnp5146 SKA3_HUMAN;NP_659498.4 R396M 0 221150 8339 sw7154;dbsnp8588 SACA3_HUMAN;NP_776246.1 "A128T,A87T,C80Y,G212S,H100R,K204N,M182V,P156L,P188L,R12K,T177N" "0,0,0,0,0,0,0,0,0,0,0" 124912 12635 sw7155;dbsnp18040 DJC10_HUMAN;NP_061854.1 "A697P,D76N,H646Q,L19I,L347I,M517L,N346S,R484Q,S227T,T562I,V184I,Y414C" "0,0,0,0,0,0,0,0,0,0,0,0" 54431 3267 sw7156;dbsnp9243 TUSC5_HUMAN;NP_758955.2 "A18P,A18T,E34D,F20C,F20S,H3Y,I106T,M165T,P15A,P15S,S57G" "0,0,0,0,0,0,0,0,0,0,0" 286753 13417 sw7157;dbsnp5838 OR4N5_HUMAN;NP_001004724.1 "A125T,A67T,C260F,C260R,F307L,G213D,G41R,H131R,I257T,L59V,M112V,N191D,Q292R,R290H,S234T,T288M,V27G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390437 10502 sw7158 CAD26_HUMAN P479L 0 60437 2887 sw7159;spmut1232;dbsnp7389 MIRO2_HUMAN;NP_620124.1 "A238V,A454T,A533T,A88T,A88V,E541K,I134M,P340S,P450S,P498R,P586L,Q318R,R245Q,R401C,R425C,R439L,S148L,S375R,S481L,T446M,V131M,V507I,V598L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89941 4163 sw715;dbsnp10877 TNF14_HUMAN;NP_003798.2 "E91K,K214E,L120V,R218H,S32L,S4I" "0,0,0,0,0,0" 8740 12115 sw7160;spmut163 ASXL1_HUMAN "L1325F,L815P,L983R,V751I" "0,0,0,0" 171023 785 sw7161;dbsnp14376 PHC2_HUMAN;NP_932157.1 "A145V,A251V,A548T,D471N,L310V,L531F,M304T,P254S,P361L,P400L,P514L,R367Q,S299R,V440M,V475M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1912 2847 sw7163;spmut516;dbsnp26644;hgmd0613_1929 DMP4_HUMAN;NP_064608.2 "G216R,G379E,G379R,L388R,L88F,N84K,P244L,R549W" "0,1,1,1,0,0,0,1" 56975 5352 sw7164;spmut1280;dbsnp4800;hgmd0613_2460 MSRB3_HUMAN;NP_932346.1 "C89G,P184L" "1,0" 253827 13132 sw7165;dbsnp6978 OD3L1_HUMAN;NP_787077.1 "G238S,L69P,P41L,R136C,R146Q,R206Q,R215H,R234Q,T171S" "0,0,0,0,0,0,0,0,0" 161753 11395 sw7167;dbsnp20679;dbsnp20680 PARP9_HUMAN;NP_001139574.1;NP_113646.2 "A682V,A9T,D830E,E440K,I517V,I586T,I641N,L784P,P781S,R111K,S21L,T330M,T651A,V524M,Y528C,Y831S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83666 2874 sw7169;dbsnp24382 F217A_HUMAN;NP_775834.2 "A258T,C360S,E240Q,G2R,G45V,H126Y,I173V,I98V,K470T,L12P,M442L,M442V,N10K,P32S,Q309P,Q350E,R320Q,R369Q,S217N,S217R,S340R,S357P,S503P,T281I,V431I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222826 6505 sw7170;dbsnp3952 CCD65_HUMAN;NP_149115.2 "A109V,D341Y,D96E,G477S,H133R,H169N,H78L,I183M,I183T,I339T,L425R,N62H,Q227R,R291Q,R294C,R294H,R472H,S446G,V68A,Y408C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85478 6933 sw7171;dbsnp2249 NOXIN_HUMAN;NP_659455.3 "A956T,D726G,D757N,E566D,E715A,I217T,I883V,K557N,L104M,L8I,N640S,P371L,P795R,R191K,R3K,R460S,S394W,T131M,V12I,V130A,V842I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220042 2119 sw7172;dbsnp27901 RB12B_HUMAN;NP_976324.2 "D381E,N864H,P815S,R498C,R605C,R90H,S250F" "0,0,0,0,0,0,0" 389677 2105 sw7173;dbsnp1816 CK035_HUMAN;NP_775844.2 "A44T,A88T,C345S,E110K,E155K,G207R,G279R,G291D,I299V,M193I,N115T,P195S,P290S,Q132P,R223Q,R241W,R260W,R289Q,R304Q,R69K,R71Q,R79P,R79Q,R89Q,T188M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256329 4750 sw7174;dbsnp14242 T183A_HUMAN;NP_612400.3 "A80T,R10M" "0,0" 92703 9070 sw7175;dbsnp25104 PPIL6_HUMAN;NP_775943.1 "H110R,N232D,R200Q" "0,0,0" 285755 9980 sw7176;dbsnp27460 ZC3H3_HUMAN;NP_055932.2 "A228S,E151D,E165K,F149Y,H109N,H403Q,I6M,K401N,K428N,K461R,L243V,P231A,P351L,P415L,P511L,P547L,P591L,P727R,P857S,Q102R,Q916H,R160Q,R168W,R213Q,R213W,R293W,R307W,R528W,R56H,R578C,R578H,R597Q,R636W,R71H,R751H,S251Y,S318L,S399G,S416L,S431P,S452G,S549L,S880T,T503K,V252M,V927F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23144 2353 sw7177 PLPL6_HUMAN K1024R 0 10908 1024 sw7178;dbsnp28535 SMC5_HUMAN;NP_055925.2 "A166S,A791T,C308R,C308Y,E326G,H682R,I136V,I66V,K455Q,N405D,N447S,R733Q,V306I,Y246C,Y893C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23137 1706 sw7179;dbsnp21750 DDX60_HUMAN;NP_060101.3 "A1673S,D1516N,D402N,D808N,G1633R,G280E,G960S,I1056T,I117V,I998V,K563Q,L1460V,M1124T,N1141K,N1617S,P1606L,P764L,R1028Q,S1269N,S509N,T1112A,V1089I,V672M,V731I,V85I,V955M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55601 626 sw717;dbsnp6983;hgmd0613_739 CAH12_HUMAN;NP_001209.1 "A25T,E143K,P212L,P26R,R222Q,T72M,V193I" "0,1,0,0,0,0,0" 771 9550 sw7180;dbsnp29123 PPAC2_HUMAN;NP_982278.3 "G185V,G264S,M8T,R250T,S140W,S293R,S7G" "0,0,0,0,0,0,0" 403313 10977 sw7181;dbsnp26403 MILK2_HUMAN;NP_891554.1 "A180V,A368T,A480P,A530T,A629S,D204Y,D46E,D582E,D91H,G546C,G546S,G583R,K623R,K887T,L179S,L40V,L711V,P403R,P474S,P519L,P584L,P717L,P896L,Q274R,Q704L,R109C,R258Q,R339C,R417W,R5G,R663H,R681W,R835Q,R864Q,S153F,S272F,S475P,S543L,T430A,T522M,T725I,V118L,V594M,V675I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79778 2593 sw7182;dbsnp2711 S15A3_HUMAN;NP_057666.1 "G365V,I349F,L269P,P303Q,P488L,R16P,R197H,R392C,R400W,R575H,Y337C" "0,0,0,0,0,0,0,0,0,0,0" 51296 5394 sw7183;dbsnp3944 DHX37_HUMAN;NP_116045.2 "A1108S,A222G,A424T,A484V,A48T,A529T,D180E,D38E,D566N,E107K,E267K,I1147T,K508N,L1007V,L364M,L467V,M96I,P209T,R1031Q,R1081Q,R458Q,R499Q,R528W,R702Q,R783H,R939H,S169L,S869G,T115A,T625M,V329I,V717I,V971I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57647 1534 sw7184;dbsnp21996;dbsnp21997 CD019_HUMAN;NP_001098099.1;NP_060772.2 "A151T,D187N,D36N,D39E,E244G,E274G,G97S,H191L,H93L,P56S,T133I,W123R" "0,0,0,0,0,0,0,0,0,0,0,0" 55286 10551 sw7185;dbsnp26818 KBTB2_HUMAN;NP_056298.2 "C299R,E189G,L534I,P254R,P301R,Q166K,S594Y,T193P,T404A" "0,0,0,0,0,0,0,0,0" 25948 4867 sw7186 S35F3_HUMAN S231C 0 148641 6851 sw7187;dbsnp22097 TIGD4_HUMAN;NP_663772.1 "A432T,C210Y,I439L,I439V,K137T,P108L,P511L,Q489R,S312F,T220S,T477I" "0,0,0,0,0,0,0,0,0,0,0" 201798 6444 sw7188;dbsnp2339 AMOL1_HUMAN;NP_570899.1 "P380L,P847L,Q124H,R363Q,R936Q" "0,0,0,0,0" 154810 2302 sw7189;dbsnp9077 RRMJ3_HUMAN;NP_060117.3 "A47S,E278K,E278V,E628K,G635S,K681E,N769K,N85S,Q91E,R291Q,R392C,R562P,R730C,R837H,R837L,S356P,S424C,S598F,T348I,V719L,Y456C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117246 2916 sw718;dbsnp8601 AKA10_HUMAN;NP_009133.2 "I44T,I646V,R249H,R590K,S167L,S202C,S231R,S523L,S549G,T525S" "0,0,0,0,0,0,0,0,0,0" 11216 4456 sw7190;dbsnp7606 CC135_HUMAN;NP_115645.4 "A19V,A708V,A709V,C186S,C766R,C776Y,D51N,E21K,I492L,K39N,L120M,M662V,N581K,P433L,P521H,Q440R,Q520K,R277Q,R512C,R525C,R562C,R569Q,R583W,R623C,R632S,R794H,R836H,R841H,R841P,S102P,S580P,S829C,T532M,T628M,T719N,T815M,V241E,V305I,V97M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84229 2745 sw7191;sws829;spmut1362;dbsnp23821 NIM1_HUMAN;NP_699192.1 "D23N,E64Q,G304A,L260I,M320I,N321S,P297L,Q41H,R21W,R43H,T66M,Y152C" "0,0,0,0,0,0,0,0,0,0,0,0" 167359 7837 sw7192;sws830 CQ057_HUMAN M617V 0 124989 2223 sw7193;dbsnp7353 SLX4_HUMAN;NP_115820.2 "A1221V,A1286V,A1294D,A1367T,A227T,A683T,A870V,A916S,A917T,A952T,A952V,C1482Y,E701D,E73Q,E769Q,E787K,E942Q,G1064R,G1349A,G141W,G1534S,G992E,H1290N,H1353N,H689Y,I1421F,I86M,K359N,K458E,K462R,K63N,L671S,M386V,N1553I,N1834S,N240D,N457K,P1122L,P1414L,P1527L,P1677S,P385T,P764A,P929L,P975L,Q1007K,Q1216H,R1060W,R1226W,R1372Q,R1550W,R1761C,R204C,R237Q,R278W,R29C,R29H,R737H,R862Q,S1123Y,S1271F,S1508L,S1716T,S282L,S528R,T156K,T919I,V1257G,V197A,V894G,Y546C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84464 536 sw7194;spmut370;dbsnp18596 CKP2L_HUMAN;NP_689728.3 "E706D,I375V,I54M,K26R,L134R,L19F,L614S,N380S,N404D,N523S,N62S,P379A,R263S,R695Q,R729C,R729H,S129P,S275A,S308G,S519G,T104I,T382R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150468 3660 sw7195;dbsnp844;dbsnp845 MKX_HUMAN;NP_775847.2;NP_001229631.1 "A214G,E179K,N309S,Q319K,R40H,T237R,T281S,V159I" "0,0,0,0,0,0,0,0" 283078 9605 sw7196;dbsnp20952;dbsnp20953 CCD36_HUMAN;NP_835467.2;NP_001128669.1 "D440E,K155R,N7S,P499S,R344G,R422H,T525A,W297G" "0,0,0,0,0,0,0,0" 339834 5207 sw7197;spmut2030;dbsnp15109 SRRM1_HUMAN;NP_005830.2 "G755R,H413R,P335L,R170H,R202C,R427H,R570H,R587H,R651I,R651S,R701Q,S498T" "0,0,0,0,0,0,0,0,0,0,0,0" 10250 2594 sw7198;dbsnp24782 SMAP1_HUMAN;NP_001037770.1 "A212V,A352P,I329T,L19I,L355P,P184L,S142P,T439I" "0,0,0,0,0,0,0,0" 60682 7261 sw7199;dbsnp18076;hgmd0613_2334 DI3L2_HUMAN;NP_689596.4 "A592S,C489Y,I516F,I777V,P12S,R483G,R576H,Y137C" "0,1,0,0,0,0,0,0" 129563 2694 sw719;dbsnp1384 SYT7_HUMAN;NP_004191.2 "E188K,I332N" "0,0" 9066 7045 sw71;dbsnp26106 GSAP_HUMAN;NP_059135.2 "D42N,D484H,F618I,G305E,H47R,I57T,L129W,N544S,P590A,Q219R,Q438R,R778Q,S471F,V649I,W653L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54103 2871 sw7200;spmut2079;dbsnp818 SUV3_HUMAN;NP_003162.2 "D727N,K57R,M756V,P30T,P692L,P692Q,P692R,S2F" "0,0,0,0,0,0,0,0" 6832 3310 sw7201 ZN595_HUMAN A628G 0 152687 1203 sw7202;dbsnp30203 ERF3B_HUMAN;NP_060564.2 "K622Q,N297D,P23L,P23T,P354H,P625Q,V32D" "0,0,0,0,0,0,0" 23708 4726 sw7203;spmut671;dbsnp5564 FANCM_HUMAN;NP_065988.1 "A1714V,E1521D,E309A,E766G,G1014C,H164P,H1886Y,I1460V,I1742V,I2048T,I208M,I587T,I839M,I906F,I912V,I917V,K1662N,K953N,L1543F,L189V,L526V,L57F,L937F,N1253S,N1288S,N1369I,N1876S,N655S,N947T,P1331L,P1812A,P292A,P347L,P90L,P999L,R1099H,R1570C,R18Q,R654W,R756H,R756L,S1079C,S175F,T1600I,T176I,T77A,V1857M,V878L,Y1307C,Y1383D,Y413H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57697 400 sw7204;dbsnp10388 LAS2_HUMAN;NP_775800.3 "C196F,G135E,P252L,R147P,R147Q,S149N,S149R,S339N,S37L,T114S" "0,0,0,0,0,0,0,0,0,0" 162681 9165 sw7205;dbsnp26077 CC146_HUMAN;NP_065930.2 "A204S,E263Q,E621G,E622K,G858D,G901S,I466T,I658M,M820I,M821L,N345S,N815T,R250C,R37P,R37Q,R460C,R460H,R509W,R94C,S4C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57639 2306 sw7206;dbsnp20779 CCD13_HUMAN;NP_653320.3 "A216S,A517V,D55G,E375V,G153R,K623E,K641N,L459F,Q233R,R25W,R287W,R562Q,R573P,R606C,S258L,S319I,S474G,S547T,V252I,V444M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152206 3916 sw7207;sws833;dbsnp10324 ELOA2_HUMAN;NP_057511.2 "A176T,A403S,A446T,C254F,C533F,D105E,D302H,G349E,G505R,G636S,I160R,K218R,L567P,M372I,N115T,P119S,P598S,Q106R,R167H,R167P,R179P,R605K,R84P,R96G,T52M,T6N,T6S,Y386N,Y568F,Y746C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51224 3585 sw7208;dbsnp29925 TEX11_HUMAN;NP_001003811.1 "A698T,D196N,E451K,K130R,M171V,P620R,Q146R,V747I,V763L" "0,0,0,0,0,0,0,0,0" 56159 2393 sw7209;dbsnp1925 LRC56_HUMAN;NP_932341.1 "A124V,D523H,G442R,L128V,L68F,P233L,P305H,P362L,Q182K,R12Q,R19Q,R300H,R415Q,R467Q,R507G,R64P,R64Q,R69Q,R81P,S296F,S431T,T285M,T368P,V219M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115399 5960 sw7210;dbsnp16067 CT196_HUMAN;NP_689717.2 "A141P,A23V,R143C,R154Q,T61A,V159F,V159I" "0,0,0,0,0,0,0" 149840 12853 sw7211;dbsnp10897 ZN440_HUMAN;NP_689570.2 "A99T,F473L,G464E,G521R,K315T,K7R,L43I,M193V,N124S,P423R,P88R,R491C,S544N,S569N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126070 3684 sw7212;dbsnp11759 CC105_HUMAN;NP_775753.2 "A8G,D434E,E388K,G458S,G63R,L227V,M248T,P499T,R22L,S444T,S52R,V245M,V456A,V58M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126402 6690 sw7213;dbsnp5828 REM2_HUMAN;NP_775798.2 "G30R,G96A" "0,0" 161253 9901 sw7214;dbsnp21882 TRM44_HUMAN;NP_689757.2 "A276V,A337T,A743V,C490R,E744A,G224V,G641A,G667R,G80E,I405V,I455V,K410E,L645V,L662V,L710P,L731P,M300L,N210S,P267T,P703L,Q557R,R177C,R352G,R544C,R597C,R660W,R693Q,S239T,S241T,S550R,T197R,T656M,W537C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152992 3544 sw7215;dbsnp14131 CA174_HUMAN;NP_997239.2 "A101S,A211V,A81T,D238N,G147R,P165A,R131C,R131H,R136K,R136T,R19Q,R54Q,S82A,T53R,V195M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 339448 12052 sw7216;dbsnp5732 PSYR_HUMAN;NP_003599.2 "I231L,V110I" "0,0" 8477 9965 sw7217;dbsnp4228 F186B_HUMAN;NP_115506.1 "A727V,D221E,E129K,E553Q,E852D,E858K,F457V,H389P,H587Q,H587Y,H593Y,I753T,M378V,P139L,R255S,R398C,R582Q,R621W,R818Q,R818W,R836Q,R845C,S597C,T213M,T563A,T737M,V397M,W107C,Y447S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84070 2648 sw7218;spmut1899;dbsnp7727;hgmd0613_2301 SEP12_HUMAN;NP_653206.2 "D197N,D37A,E25K,G169E,Q213R,R204Q,T89M,V162M,V222I" "1,0,0,0,0,0,1,0,0" 124404 10621 sw7219;dbsnp8865 SLN12_HUMAN;NP_060512.3 "C168R,F466I,G235E,L530F,L544P,M254V,M278I,M278T,M97T,S385L,S43R,S448P,T361M,V461A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55106 4910 sw721;dbsnp4123 XPOT_HUMAN;NP_009166.2 "A526V,D640G,D649N,E265K,E716D,E735D,I325V,Q494H,Q673K,Q756R,S497C,S702N,V329M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 11260 2274 sw7220;spmut2211;dbsnp1673 TRI22_HUMAN;NP_006065.2 "D155N,L264M,M491I,Q105K,R242T,R321K,R442C,S244L,T232A,T294K" "0,0,0,0,0,0,0,0,0,0" 10346 2945 sw7221;dbsnp11680 ZN100_HUMAN;NP_775802.2 "C322G,E461K,L79V,M8V,P114A,R22S,T389I,T80S" "0,0,0,0,0,0,0,0" 163227 1203 sw7222;dbsnp20907 ZDH23_HUMAN;NP_775841.2 "F333V,H132N,H274R,K247R,R165H,T221A" "0,0,0,0,0,0" 254887 8406 sw7223;dbsnp861 THNS1_HUMAN;NP_079114.3 "A248E,A303S,A323P,A40V,D489N,F498S,G389D,L154P,L52I,P239R,P368T,Q399R,T316I,Y632C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79896 3677 sw7224;dbsnp25257 CF165_HUMAN;NP_001026913.1 "A407E,C66Y,D118G,D620G,D72N,F361L,G170A,H465Y,N268S,R141C,R141H,R154K,R234Q,R239C,R550C,R550H,R584W,R601C,S310T,T92M,V112A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 154313 4881 sw7225;sws836;dbsnp9181 SMYD4_HUMAN;NP_443160.2 "A88V,D181V,F360L,G236S,H511R,I374M,N101D,P382R,P797H,Q227R,R131I,R558W,R562W,R634H,R653Q,T176A,T512I,V23A,V405I,V645I,Y295C,Y727C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114826 3180 sw7226 TEFF1_HUMAN V189I 0 8577 7517 sw7227;dbsnp21389 GRM1C_HUMAN;NP_060047.3 "E549A,I363L,K407E,L602F,L644P,M606V,N652S,R622G,S662R,T20I,V555I" "0,0,0,0,0,0,0,0,0,0,0" 54762 4460 sw7228;dbsnp25160 P20D2_HUMAN;NP_001010853.1 "E69D,K333E,M201T,N316S,N320S,T397M" "0,0,0,0,0,0" 135293 7838 sw7229;dbsnp7356 CP071_HUMAN;NP_631909.2 "A241V,A419T,D301N,E232K,E88D,G460R,N109K,N371D,P143S,P35L,P35S,P362L,P465L,P465R,Q354R,R302C,R330L,R330W,R382W,S190L,S259L,S356F,S399F,T209M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146562 6300 sw7230 OSCAR_HUMAN S229Y 0 126014 11178 sw7231;dbsnp13919 FA71A_HUMAN;NP_705834.2 "A104G,A112E,A189G,A315E,A554D,D133A,G274A,G274R,G319D,G406R,G482V,I318V,K34M,K34T,N22D,N253S,N551D,P8S,Q307R,R140H,R202G,R439H,R441K,R75C,R75H,S14N,T11M,T577M,V197M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 149647 5208 sw7232;dbsnp7611;dbsnp7612 FTSJ1_HUMAN;NP_060818.4;NP_001093112.1 "A684T,C55W,F163Y,F753L,I151L,K439R,L60F,N416S,N512S,N764S,Q541R,R589C,R635W,T608K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55783 3444 sw7233;dbsnp24459 CC170_HUMAN;NP_079335.2 "A269V,A331T,A615D,E345K,E568D,F324S,L256R,N479K,R393K,R470H,R508W,R553Q,V366I,V604I,V683I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80129 3917 sw7235;sws837;spmut2328;dbsnp8592;dbsnp8593 ULK2_HUMAN;NP_055498.3;NP_001136082.1 "A264E,A529T,D500A,D842E,G752R,K907E,N330K,P242S,P311S,P324A,R408S,R881Q,R927Q,T533I,V370M,V886M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9706 1957 sw7236;spmut840;dbsnp25355 HACE1_HUMAN;NP_065822.2 "D399G,I374T,I562V,I603T,M544T,N758I,N758S,P468L,R17H,S404A,V330I" "0,0,0,0,0,0,0,0,0,0,0" 57531 2568 sw7237;dbsnp1382 UBQLN_HUMAN;NP_659490.4 "A22P,A275V,A399G,C171R,D68V,D92V,G259D,G300E,H136Y,I386T,M191T,M429T,P17S,Q143K,Q391K,Q455E,R124W,R213H,R32Q,R375Q,S341L,S51L,V166L,W379G,Y274H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 143630 7105 sw7238;dbsnp5286 EFHA1_HUMAN;NP_689939.1 "A47P,E409D,I333V,I78V,K306M,L288I,Q260L" "0,0,0,0,0,0,0" 221154 7879 sw7239;dbsnp11484 IZUM1_HUMAN;NP_872381.2 "A333V,D63N,P264S,S190L,S277Y,S347L,V108M" "0,0,0,0,0,0,0" 284359 9656 sw723;dbsnp4927 SPY2_HUMAN;NP_005833.1 "D20A,P106S,Q6H,T113A,T122A" "0,0,0,0,0" 10253 10424 sw7240;dbsnp316 TTC40_HUMAN;NP_001186978.2 "A1024T,A1028T,A1328T,A1519T,A1536V,A1543T,A1892V,A1953T,A2143T,A2331T,A2633P,A2654V,A485T,A550V,C1322R,C1529Y,C1948Y,C2125R,D1126G,D1858E,D2178N,D2411N,E1273Q,E1388G,E2249K,E228K,G1763D,G189R,G1920S,G1933A,G2184S,G2691D,G657A,I465L,I799M,K1375N,K191E,K2658Q,L1500F,L1722V,L2486P,L2499F,L605P,M1213T,M1840I,M1840V,M319V,M984I,N1203S,N1367K,N350I,N886S,P1750S,P2018L,P2339S,P283L,P96S,Q1647E,Q215H,R1186C,R1872C,R1928Q,R1952C,R1952H,R1954Q,R2451Q,R2512Q,R2532H,R2591Q,R2657C,R2676H,R2685Q,R281C,R298C,R298G,R351Q,R450W,R473S,R678Q,R979Q,S1313L,S1428F,S1488L,S2540G,S264N,T1445I,T1913A,T422M,T470N,V1049I,V1258A,V129L,V1480I,V1781I,V2268I,V410I,W173R,W1923R,W2662R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54777 189 sw7241;dbsnp17654 ENTD1_HUMAN;NP_689725.2 "G443R,I109T,I548T,I607M,K123R,K159E,K402R,L239P,N489S,S124Y,T169I,T448A,V381A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 150350 5054 sw7242;spmut1794;dbsnp20564 RN168_HUMAN;NP_689830.2 "A128V,A167T,A344T,C326R,C378R,C54G,D103N,E157G,E170K,E177K,E413K,F425L,K387R,N368H,P401Q,P494L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165918 5533 sw7243;dbsnp26133 ZN679_HUMAN;NP_699194.2 "C223S,C245R,E328K,E69G,G166C,H120R,H314P,N222S,R232G,Y212H" "0,0,0,0,0,0,0,0,0,0" 168417 1203 sw7244;dbsnp6870 TBC21_HUMAN;NP_699187.1 "R113Q,R119H,R83Q,S235Y,V203A,V317M" "0,0,0,0,0,0" 161514 9989 sw7246;dbsnp28845 F154A_HUMAN;NP_714918.2 "A422V,C313W,D118G,D131N,G316R,K27E,K315N,K330Q,K345R,K54E,M283V,N385S,N464K,P267S,P364L,P63S,P94L,R123W,R170K,R351C,T103K,T104M,T171I,T312I,T340N,V355I,Y378C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158297 7128 sw7247;dbsnp24331;dbsnp24332 CE57L_HUMAN;NP_776191.1;NP_001077004.1 "C34S,D194E,E340K,E343G,F25C,I253T,K298M,M6V,Q347R,R19K,S124C,V10L,W305R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 285753 7403 sw7248;dbsnp19968 DZI1L_HUMAN;NP_775814.2 "A229V,A551V,A561S,E237G,G595E,K514R,K645E,M610I,N177D,P762S,Q203P,Q360R,R140W,R146C,R146H,R321W,R447C,R495Q,R593H,R628C,R628H,R643W,R745C,S12R,S426F,T545A,V86L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199221 3460 sw725 SPY3_HUMAN A161T 0 10251 11136 sw7250;dbsnp3743 AN13A_HUMAN;NP_149112.1 "E70K,H452Q,L505P,N337S,Q584R,R42Q,S461Y" "0,0,0,0,0,0,0" 88455 5084 sw7251;dbsnp5572 GP135_HUMAN;NP_072093.2 "C301S,D412N,E488K,P416S,Q5P,V314A,V481A" "0,0,0,0,0,0,0" 64582 6760 sw7252;dbsnp23590 CE054_HUMAN;NP_071373.2 "A523S,D483N,H230Q,I482V,I583V,K67R,L380S,L79V,M248K,N64S,R149G,R224G,R288G,S76I,V31M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63920 5209 sw7253 ZN683_HUMAN H204N 0 257101 6224 sw7254;dbsnp1368 RCOR2_HUMAN;NP_775858.2 "L363V,T271R,T514A" "0,0,0" 283248 5803 sw7255;spmut1711;dbsnp28819 RASEF_HUMAN;NP_689786.2 "A521T,A550T,D268Y,G725R,H350Y,K273N,R175H,R237C,R262C,R384K,R404H,R516G,S74A,V480F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158158 3694 sw7257;dbsnp25185 NRSN1_HUMAN;NP_542454.3 "H104Y,I41V,P167L" "0,0,0" 140767 13077 sw7258;dbsnp11493 PRR22_HUMAN;NP_001127788.1 "G65S,P118L,P188H,P366L,Q215L,V231I" "0,0,0,0,0,0" 163154 8107 sw7259;sws838;dbsnp17353;dbsnp17354 TRM2A_HUMAN;NP_073564.3;NP_892029.2 "D426N,D613N,G560S,L214I,S602R,V506M" "0,0,0,0,0,0" 27037 4847 sw7260;dbsnp11174 A16A1_HUMAN;NP_699160.2 "A339P,A348P,A348T,A698D,D459V,D479G,E110K,E755K,G137R,G264E,L224P,L227V,L72Q,P527H,P527R,R132Q,R135Q,R377H,R410C,R486W,R493W,R542Q,R601H,R726W,S16W,S488T,T127S,V139I,V403L,V706A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126133 3195 sw7261;dbsnp7991 CKLF1_HUMAN;NP_851786.1 "R148G,R148K,S10T" "0,0,0" 113540 11177 sw7262;dbsnp13440 K319L_HUMAN;NP_079150.3 "D774V,E308D,G243D,G244R,G64D,I812T,I940V,K3T,K636E,Q837H,R406Q,R777W,T291A,Y303H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79932 1902 sw7263;dbsnp21246 H1FOO_HUMAN;NP_722575.1 "A143T,A149T,A203V,G305D,M225T,N296S,R244M,V6I" "0,0,0,0,0,0,0,0" 132243 9769 sw7264;dbsnp440 RTKN2_HUMAN;NP_660350.2 "A288T,C310Y,E244G,E327K,F229L,G573S,H462R,I598V,K101T,L42F,N362S,P416L,R127H,R345Q,T153A,V55I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219790 5031 sw7265;dbsnp28568 CORA1_HUMAN;NP_116277.2 "A1642T,A265T,A351V,A422T,A593G,D1205Y,D1353E,E1438K,G133S,G316D,G60R,H1031R,I1765L,I359T,I537T,I611F,I759L,L124V,L1669F,L272S,M1808V,M996I,P1116Q,P1360T,P1581T,P437L,P720R,P834L,P953L,P987L,Q1179E,Q120R,R1094Q,R1239W,R1348Q,R1354Q,R1688Q,R1789Q,R349C,R459Q,R552Q,S262Y,S576T,S610L,T1175N,T1293M,T1635M,T298I,T57M,V1419I,V1655G,V207I,V523I,V89I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85301 514 sw7266;dbsnp11665 ZN101_HUMAN;NP_149981.2 "D430H,F116S,H124R,H127R,H146R,H298Y,M121L,P153S,R113H,R224H,T82A,V106M,V208A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 94039 6157 sw7267;spmut1247;dbsnp26820;dbsnp26821 MLL5_HUMAN;NP_061152.3;NP_891847.1 "E1126K,E1388K,G257D,G999C,H1394Q,I903T,N1195S,N1407S,P1292L,P1747A,P1784S,P908S,R1422H,S1424P,S1532N,T487P,Y292S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55904 517 sw7268;dbsnp3358 DCP1B_HUMAN;NP_689853.3 "A324V,A349T,A375V,C369Y,I564M,M528V,N195D,N216S,N339I,P498S,P537L,P569L,R344H,R384C,R384H,S301T,S411C,S511L,T229A,T578S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196513 4948 sw7269;dbsnp15557 S22AF_HUMAN;NP_060890.2 "P349Q,P516T,S92T,T236M,Y266C" "0,0,0,0,0" 55356 5883 sw7270;dbsnp14163 PACE1_HUMAN;NP_851607.2 "A687T,C184R,E134V,E657K,G597A,K477R,M174L,M441V,P637L,Q621L,Q621P,Q621R,R337Q,S446N,V130A,V341L,V341M,V444I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57147 3682 sw7271;dbsnp24370;dbsnp24371 GP116_HUMAN;NP_001091988.1;NP_056049.4 "A192T,A431V,E527K,G181D,G210R,I1221M,I99V,K1083Q,K379M,K550N,L1109F,M856T,N160S,P416A,P58S,R1078H,R1153W,R130W,R51Q,S695T,T1157M,T1322M,T415N,T601I,T604M,T927I,V502A,V53I,V801I,Y513H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221395 1073 sw7272;sws839;dbsnp25095 GP115_HUMAN;NP_722580.3 "C11W,E181D,E337K,F567L,G244W,H246R,H462Y,I234V,I564V,I609V,K541N,M385T,M655T,P565L,Q315R,Q64R,R343H,R343L,R377C,R429Q,R439H,R507C,R507H,R513Q,R693H,S393P,S688C,T155I,V384L,V411I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221393 4121 sw7273;dbsnp18382 GP113_HUMAN;NP_001138640.1 "A368T,A404T,A435D,A784V,A863V,C595R,E140D,G218R,G987R,H599Y,H751Y,I1027V,I782M,L159P,L364V,L483F,L633P,M1023T,N552S,P139H,P765L,P954R,Q205H,R35S,R395H,R575Q,R695Q,R808C,S356N,S653C,V393I,V685L,V900I,V930M,Y366C,Y852C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165082 1785 sw7274;dbsnp29601 GP112_HUMAN;NP_722576.3 "A2900S,A698T,A737S,C1547S,C2445F,D202G,D60N,E1035K,E2505G,F1791L,F229S,G2079A,G3059D,G605R,G711D,H960R,I1964V,I276M,I655V,M2047R,M2578I,P1315S,P1341L,P1545A,P2020L,P2105H,P368H,P634L,P827A,Q810K,R227H,R54Q,R581C,S1233P,S1324Y,S1540P,S1690Y,S2701L,S3015R,S658F,T1118S,T1126I,T1204S,T1213N,T1383M,T1652N,T2404S,T2407M,T423I,T580A,T604K,T614I,T970I,T988M,V1837I,V2029F,V2256A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139378 137 sw7276;dbsnp21138 XRN1_HUMAN;NP_061874.3 "A1652T,A306V,A521V,C601Y,D1137N,G1506S,H1270R,H299Y,I836V,K1494E,K499Q,N1278S,N371S,P1222A,P1251S,P319S,R1177H,S1279R,S674G,V1259A,V238L,V814A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54464 636 sw7277;spmut955;dbsnp11728 IL28B_HUMAN;NP_742151.2 "A14P,A25S,A25T,E171K,E95Q,F179V,G20A,G29R,K70R,L31F,M6T,R134W,R157Q,R180C,R28H,T101M,T108A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 282617 12959 sw7278;dbsnp11729 IL28A_HUMAN;NP_742150.1 "H32R,H76R,T10M,T112A,T6S,Y160H" "0,0,0,0,0,0" 282616 12959 sw7279;spmut2332;dbsnp642 UNC5B_HUMAN;NP_734465.2 "A10S,A10V,A449T,A516T,D407N,E184K,E648G,G334R,G493R,I242V,I821M,L565F,N569S,P434L,P762R,Q820H,R142C,R175H,R401H,R539Q,S218L,S218W,T341M,T793S,V243I,V382M,V394G,V681M,V739M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219699 2319 sw7281;dbsnp17378 RGDSR_HUMAN;NP_705843.1 "D358V,E297K,E29D,E344Q,F446S,G163R,G251R,G413R,H241Y,L110P,M342R,N472D,P408L,P442S,P470S,P71S,Q24R,R129H,R264H,R37C,R87Q,S405L,S457G,T216M,T333M,T353I,T38M,V238A,V378A,Y46H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 266747 7148 sw7282;dbsnp14272 MCLN2_HUMAN;NP_694991.2 "A287G,A504V,G281R,K368I,K370Q,M365V,N254Y,Q288L,R319W,T283S,V20I" "0,0,0,0,0,0,0,0,0,0,0" 255231 5599 sw7283;dbsnp2229 MAML2_HUMAN;NP_115803.1 "G174D,I480M,M1029L,P498S,P896T,Q237R,R207H,R241Q,S1055I,S726I,S733L,V836I" "0,0,0,0,0,0,0,0,0,0,0,0" 84441 1535 sw7284;dbsnp8557 PELP1_HUMAN;NP_055204.2 "E1056K,L553F,P846L,R188K,R208P,T1126S" "0,0,0,0,0,0" 27043 1628 sw7285;spmut318;dbsnp29078 CDK20_HUMAN;NP_001034892.1 "A137T,D155E,G156S,K281R,R158C,R179C,S106N,S86L,V325L,V325M" "0,0,0,0,0,0,0,0,0,0" 23552 9770 sw7287;dbsnp25070 ZDH14_HUMAN;NP_078906.2 "A419T,D333N,P340L,Q16E,T334M" "0,0,0,0,0" 79683 6870 sw7288;dbsnp390 ABI1_HUMAN;NP_005461.2 "A128V,G331A,P280S,S361F,T394I" "0,0,0,0,0" 10006 6506 sw7289 TBC3A_HUMAN P526Q 0 84218 5855 sw7290 ST134_HUMAN S71L 0 - 9215 sw7291;dbsnp5172 R113B_HUMAN;NP_849192.1 "C205Y,D144N,E142Q,G8A,K200R,K35Q,R133Q,R188C,R188H,R255K,S169L,S89R,V92M,Y153H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140432 9844 sw7292;dbsnp5109 H6ST3_HUMAN;NP_703157.2 "E45K,H420L,K265R,K451Q,N141S,R296W" "0,0,0,0,0,0" 266722 7180 sw7293;dbsnp29894 GPR64_HUMAN;NP_001073327.1 "A247D,G9D,H290Q,M415I,N771S,P224S,R158H,R266W,R892Q,S258N,S608N,V802A,Y787H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10149 2037 sw7294;dbsnp21999 WDFY3_HUMAN;NP_055806.2 "A173T,A22T,C1751G,D1049H,I1189T,I2591V,I3032V,I402V,L3124P,P819S,R3496C,R925W,S1153A,S1830F,S1849G,S348N,T1496I,T619M,T761M,Y1327C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23001 102 sw7295 OFCC1_HUMAN "R123Q,S21L,T145I" "0,0,0" 266553 12306 sw7296;dbsnp24645 TC1D3_HUMAN;NP_777570.1 "A84S,I67V,R132H,R28G,R88I,V121A,V187M" "0,0,0,0,0,0,0" 6991 13006 sw7298;spmut904;dbsnp25292 HS3S5_HUMAN;NP_705840.2 "A29T,A93V,I247N,K225Q,L61P,P114S,Q88R,V253I,V269L" "0,0,0,0,0,0,0,0,0" 222537 9771 sw7299;dbsnp22091 WDR17_HUMAN;NP_733828.2 "A1215T,A1295T,A267V,A268S,A487P,A523S,A814T,C913S,D1072N,D957N,E952K,G652D,H316Q,H319R,H967Y,I418V,I423T,I851M,L1042V,L1044M,N298S,N424K,R1157Q,R1194L,R1318Q,S923F,T417S,T590A,V271I,V271L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116966 1122 sw72;dbsnp26007 Z804B_HUMAN;NP_857597.1 "C248Y,D179H,D335Y,D622E,E909K,F634I,G1084D,H1010R,H274R,H748Y,I1232M,I283V,I965V,K396M,K589Q,K952E,L191S,L390M,M1105V,N249Y,N409D,N914H,N949D,P1142L,P369S,P458L,P644R,P644T,Q938K,R182Q,R887S,R920T,R999S,S1193P,S393R,S832L,S840N,T1000N,T1086I,T276I,T685N,T915I,T964A,V1195I,V580M,Y1118D,Y827C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219578 1066 sw7302;sws841;spmut2125;dbsnp9013 TENS4_HUMAN;NP_116254.4 "A432S,A432T,A494T,A580V,A712T,G379S,L179P,R195Q,R390Q,R509Q,S241L,S498N,T327K,T445I,V57M,V601M,V619M,W661R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84951 3918 sw7303;sws842;dbsnp29044 TAF1L_HUMAN;NP_722516.1 "A106V,A1170V,A145D,A1540T,A948T,C1456Y,D141H,D141N,D1686G,D848N,E935K,G256A,G604E,H1057Y,H1390R,I1411V,I1514V,I1766V,I1805V,I532N,K1038N,K1130R,K1731N,K838R,K872R,L795I,M371K,M371V,M615V,M820T,N1784S,P1266R,P1389S,P1557S,P1655S,P1810L,P255L,P544S,P637S,Q171E,Q649R,R1016C,R1356C,R1356H,R1397H,R512W,R600W,R673K,R817K,R845Q,R955K,S1098L,S136W,T1169I,T1677M,T331M,V1312L,W880R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 138474 493 sw7304;dbsnp11582 ABCA7_HUMAN;NP_061985.2 "A196V,A2045S,A414G,A589V,A676T,A877T,A914S,D871H,E188G,F1390L,G1111S,G1190R,G1351S,G1421V,G1448D,G1502V,G1527A,G1770E,G1820S,G215S,G776R,H395R,K1407R,L101R,L190V,L591P,L620P,L85M,N718T,P152L,P1632L,P364R,P486A,P492T,P68A,Q1686R,Q758H,R1007H,R1026C,R1177Q,R1237H,R1349Q,R1385Q,R1397C,R1400H,R1453C,R1453G,R1489Q,R1505H,R1715H,R1780W,R1812H,R1932C,R334W,R433Q,R463H,R463P,R810P,R880Q,R989H,S1723L,S231N,T319A,T849N,T990M,V1244M,V1538I,V1599M,V541M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10347 358 sw7305;spmut220;dbsnp2221 BLID_HUMAN;NP_001001786.2 "A76D,I12M,I29L,L65F,Q96P" "0,0,0,0,0" 414899 14553 sw7306;dbsnp10464;hgmd0613_2351 APCD1_HUMAN;NP_694545.1 "A158V,C503W,E161K,I289V,L9R,R191Q,R344W,R346H,S495C,T288I,T420M,V150I,V351I" "0,0,0,0,1,0,0,0,0,0,0,0,0" 147495 6404 sw7307;dbsnp460 SYCE1_HUMAN;NP_001137236.1 "A204V,A237S,E132D,E346K,H321R,K183R,K42R,L109R,P317A,Q244E,R125G,R78Q,R78W" "0,0,0,0,0,0,0,0,0,0,0,0,0" 93426 9626 sw7308;dbsnp14289;dbsnp14291 CENPL_HUMAN;NP_201576.1;NP_001164653.1 "C245S,D133N,D285G,D58G,I117F,I256V,P26S,R306H,R306L,S76N,V34I" "0,0,0,0,0,0,0,0,0,0,0" 91687 8807 sw7309;dbsnp13966 TMM61_HUMAN;NP_872338.1 "A149V,E40K,G75S,M6V,R207W,T54M" "0,0,0,0,0,0" 199964 12746 sw730;dbsnp16292 FOXS1_HUMAN;NP_004109.1 "A11T,A287D,E15K,E74K,G105S,G223S,G303S,L134F,M259V,N145T,P292A,R110H,R131H,R187W,R286Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2307 10137 sw731 PSCA_HUMAN E39K 0 8000 14352 sw7310 F185A_HUMAN G60A 0 222234 8751 sw7312;sws843;dbsnp13063 CA087_HUMAN;NP_689590.1 "A404P,A406P,D158G,E150K,H137N,H88Y,K403E,L185V,N301D,N316Y,P189A,P189S,P290L,R188C,R220H,R240K,R500Q,R541Q,R541W,R63G,T473M,T493I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127795 5897 sw7313;dbsnp10318 RBFA_HUMAN;NP_079081.2 "A150T,G226S,G258V,K185E,K276Q,N245H,P219A,Q148R,V122M,Y316C" "0,0,0,0,0,0,0,0,0,0" 79863 9834 sw7314;dbsnp21916 LGI2_HUMAN;NP_060646.2 "G61S,Q452R,R101Q,R392C,R444Q,T338M" "0,0,0,0,0,0" 55203 5731 sw7315;dbsnp8015 FUK_HUMAN;NP_659496.2 "A521T,A858T,F1083Y,F228Y,N275S,P701L,R415Q,R571H,R901W,R939Q,R939W,T15P,V146M,V861M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 197258 1771 sw7316;dbsnp7740 IQCK_HUMAN;NP_694940.1 "I192L,L220P,M144L,M1L,T47A" "0,0,0,0,0" 124152 11157 sw7317;dbsnp29598 FMR1N_HUMAN;NP_689791.1 "A142V,A48T,D216E,E39K,M71V" "0,0,0,0,0" 158521 11803 sw7318;dbsnp18379 SPG16_HUMAN;NP_078808.3 "D427N,D56N,D64A,D64G,K425T,P106S,P324T,P63T,Q361H,R182G,R192C,R437C,R550W,R628Q,S356N,T629A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79582 4786 sw7319;dbsnp5063 CLYBL_HUMAN;NP_996531.1 "D28Y,E103D,G190W,I241V,K309M,P191S,T335I,V128I" "0,0,0,0,0,0,0,0" 171425 9902 sw7320;dbsnp6393 OR4N4_HUMAN;NP_001005241.2 "A119D,A78P,C132Y,D311G,D84N,F274L,G108E,H155Y,I286T,K233E,L164I,L198I,L198P,L61F,L86F,M259I,N137K,N5K,P129R,R122C,R128Q,R128W,R182Q,R226H,R304Q,S20C,S72T,T207A,T239M,T276I,V117L,V244A,Y142C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283694 10502 sw7321;dbsnp2596 OR8I2_HUMAN;NP_001003750.1 "A202G,A236V,C110S,C178F,C178G,C178W,D179A,D179N,H175L,I124V,I151V,K139N,Q234P,S172G,S266L,T180P,T248N,T278K,V247A,V83L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120586 10503 sw7322;dbsnp29966 PGAM4_HUMAN;NP_001025062.1 "A38V,E13K,I175T,Q174H,R40C,R86H,R90Q" "0,0,0,0,0,0,0" 441531 11715 sw7323;dbsnp20723 SPICE_HUMAN;NP_653319.1 "D440H,G812R,I590V,K335N,L275V,L759V,L821R,N544T,N679Y,N843K,P19R,Q104R,Q636P,R420C,R472G,S851C,T200M,T239M,T824P,V284M,V36M,Y103H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152185 2865 sw7324;dbsnp5739 TTC5_HUMAN;NP_612385.2 "G424V,Q14H,Q47R,R249W,V336I,Y309C" "0,0,0,0,0,0" 91875 7767 sw7325;dbsnp14617 PUSL1_HUMAN;NP_699170.1 "D262N,H267Q,R103Q,R197W,R218Q,V244M" "0,0,0,0,0,0" 126789 10794 sw7326;dbsnp3992 VSI10_HUMAN;NP_061959.2 "G445R,H435Y,I100T,L521F,T349I,V333M,V439A" "0,0,0,0,0,0,0" 54621 5987 sw7327;dbsnp25416 TAGAP_HUMAN;NP_473455.2 "A345T,A350D,A459P,E147K,E187D,E192K,G346D,G410A,G542D,H284Y,K518T,P347T,P428S,P636A,R131H,S344N,T396S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117289 3771 sw7328;dbsnp21179 SHSA5_HUMAN;NP_057563.3 "A223T,G216R,P162T,P236L,P97S" "0,0,0,0,0" 51246 12121 sw7329;dbsnp663 MMP21_HUMAN;NP_671724.1 "A311T,A454V,A95E,D263E,E349G,F551L,P115Q,R360H,R478G,R55W,S34L,T297M,V191A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 118856 5563 sw732;dbsnp29712 TSN6_HUMAN;NP_003261.1 "A108T,A87T,C221Y,R235C" "0,0,0,0" 7105 11927 sw7330 CPXCR_HUMAN "R131H,Y3S" "0,0" 53336 10834 sw7331;dbsnp13911 CADM3_HUMAN;NP_001120645.1 R162W 0 57863 7915 sw7332;dbsnp2512 O5AS1_HUMAN;NP_001001921.1 "C73F,E306G,F150V,H176R,I173N,I246K,I43L,L245I,M81V,R122H,R122L,S167T,V146M,Y259C,Y310C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219447 10292 sw7333;dbsnp26862 CNPY4_HUMAN;NP_689968.1 "E47Q,G168R,Q66K,R245Q,S80I" "0,0,0,0,0" 245812 11944 sw7334 NPT2C_HUMAN E513V 0 142680 4165 sw7335;dbsnp1831 PORIM_HUMAN;NP_443164.2 "A158T,T99P,T99S,V71M,V86F" "0,0,0,0,0" 114908 12783 sw7336;sws845;dbsnp18313 WDR69_HUMAN;NP_849143.1 "A51T,D312N,G259S,I276T,I351F,L317F,M16T,S42G,T115M,T121S,T177I,T27I" "0,0,0,0,0,0,0,0,0,0,0,0" 164781 8276 sw7337;dbsnp9451;hgmd0613_2226 CNTRB_HUMAN;NP_444279.2 "E694G,H264Y,H480L,I123L,L145P,L637V,M1R,N539Y,P578Q,P702L,R119W,R131Q,R168C,R202L,R280H,R280L,R326Q,R439Q,R513W,R531Q,R53Q,R752C,R860W,R870C,T195I,T230I,V901I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116840 2469 sw7338;dbsnp9034 ABCA6_HUMAN;NP_525023.2 "A1379T,A1535T,A272T,C1059Y,C1359R,E1273K,E454G,G1012W,G507A,H515R,H664R,K490R,L1556I,L1577F,M686I,M698I,M803I,M875I,M978V,N1322S,N241S,N610Y,N688S,P1439S,P422L,R1121H,R1482C,R714G,R939I,S1045F,S1578Y,T1441M,T1581I,T793I,V1276I,V1550M,V282I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23460 706 sw7339;dbsnp27944 LGI3_HUMAN;NP_644807.1 "A198T,A524T,G384S,I119T,M25T,R214W,R433H,R479C,S457L,T139A,T354P,T536M,V400I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 203190 5731 sw733;spmut1614 PRC1_HUMAN A187E 0 9055 4909 sw734 RGS10_HUMAN A94V 0 6001 13344 sw7340;dbsnp1784 OR8H3_HUMAN;NP_001005201.1 "A203V,C103F,D170Y,G269E,I201V,L142P,L47I,M255V,P137S,R293I,R295K,S73N,T16M,T195S,T254I,V158L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390152 10612 sw7341;dbsnp26477 OR6V1_HUMAN;NP_001001667.1 "L164P,M1T,R120H,R161Q,R269K,S237F,V295A" "0,0,0,0,0,0,0" 346517 10577 sw7342;dbsnp11233 LIRA2_HUMAN;NP_001124389.1 "A197G,A307T,C295R,D313N,E63G,G151S,G361A,G383S,H25L,H25N,H472Y,L11F,L135S,L275F,L301F,M233I,N201S,P123S,R165C,R165H,R381C,R381H,R381P,R452C,R48G,S297G,T140A,T6M,V116M,V185M,V331G,V390A,V416L,V459L,V461L,W89G,W89R,Y204H,Y296S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11027 4574 sw7345;dbsnp1785 OR8H2_HUMAN;NP_001005200.1 "A105P,A105V,D170Y,G3C,H120Y,I154M,I47L,K295E,L142P,L37Q,M26I,N7D,N90S,P283S,R165S,T206I,T95R,V158L,V203A,V209A,V284G,V284M,Y169C,Y259H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390151 10612 sw7346 SIX5_HUMAN L556V 0 147912 3704 sw7347;dbsnp21738;dbsnp21739 CD033_HUMAN;NP_775758.2;NP_001093253.1 "F171V,H166R,M107V,N68S,P81L,R40M,S104L,V129M" "0,0,0,0,0,0,0,0" 132321 12976 sw7348;dbsnp30648 FA58A_HUMAN;NP_689487.2 "C183S,E61K,L129R,N98S,R113H,R185S,T242A" "0,0,0,0,0,0,0" 92002 11861 sw7349;dbsnp22739 GBRG1_HUMAN;NP_775807.2 "G403E,I394T,L13F,M391V,S414N" "0,0,0,0,0" 2565 7264 sw7350 BWR1B_HUMAN R133G 0 5003 11840 sw7351;dbsnp13328 CA158_HUMAN;NP_689503.2 "F191L,F191Y,F38V,K44E,M174I,N139S,P109L,P170L,R115C,T45I" "0,0,0,0,0,0,0,0,0,0" 93190 13095 sw7352;dbsnp4412 FXL14_HUMAN;NP_689654.1 "L220V,N102H" "0,0" 144699 8202 sw7354;dbsnp8105 NUP93_HUMAN;NP_055484.3 "D207E,E779K,I583M,Q264E,R388W,R486C,R781H,S404N,S509R,T239M" "0,0,0,0,0,0,0,0,0,0" 9688 3093 sw7355;dbsnp18060 S11IP_HUMAN;NP_443134.2 "A243S,D271N,E513V,G687S,I1085V,R393H,R410G,R628C,R780C,R793C,S752F,V563I" "0,0,0,0,0,0,0,0,0,0,0,0" 114790 1718 sw7356;dbsnp14010 ZN687_HUMAN;NP_065883.1 "A650T,G116R,G259E,G300V,G461R,G636S,K988E,P176L,Q819H,R1115Q,R1154H,R344T,V280I,V591I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57592 1316 sw7357;dbsnp11490 REXO1_HUMAN;NP_065746.3 "A386V,A51S,A742S,A753V,A850V,A878P,A878T,A903T,A923V,G1203S,G670D,I804V,K660N,M1132I,P313T,P321L,R1003Q,R1005W,R214C,R424W,R429W,R916Q,S226C,S759P,S776L,S886G,T295M,V408A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57455 1354 sw7358;sws847;dbsnp14433 LRC47_HUMAN;NP_065761.1 "A5V,P545L,R354C,R583H,S431C,V301M,V579L,V581I" "0,0,0,0,0,0,0,0" 57470 5366 sw7359 S6OS1_HUMAN "S309L,V404I,Y125C" "0,0,0" 317761 5310 sw735;dbsnp9165 ZN207_HUMAN;NP_003448.1 "A224S,M422L,M422V,Q133P" "0,0,0,0" 7756 6767 sw7360;dbsnp26166 DOCK4_HUMAN;NP_055520.3 "E606Q,F1580L,G1101D,K1059T,M326V,N535D,P1718L,P1733A,P1917L,P300H,Q1822K,R106C,R1201L,R1570K,R853H,S1696N,S1755P,S1926L,T87I,V1884M,V1914I,V21I" "0,0,0,1,0,0,1,0,0,0,0,0,0,0,0,0,1,0,1,1,0,0" 9732 443 sw7361;dbsnp24401 THMS1_HUMAN;NP_001010923.1 "A372T,A424T,A601V,D617N,E170G,I630V,K208E,L491H,M36T,S375Y,S467F,V284G" "0,0,0,0,0,0,0,0,0,0,0,0" 387357 4275 sw7362;dbsnp2550 BATF2_HUMAN;NP_612465.3 "G6S,G8E,Q150R,V79M" "0,0,0,0" 116071 11396 sw7363;dbsnp3406 BEST3_HUMAN;NP_116124.2 "A265T,E622G,Q365P,S142L,S624T,T153K,Y43H" "0,0,0,0,0,0,0" 144453 4398 sw7364;dbsnp18072 CLC4F_HUMAN;NP_775806.2 "A28G,D262V,E185G,E494K,E512V,G533D,G555D,H18Q,I586V,K394T,K564R,L516P,M228R,N146S,N251D,N349S,N380H,P545A,Q196H,Q439P,R101Q,R351H,R539C,R7C,T197M,T235M,T407I,V119A,V369A,V498M,V523A,V58L,V74I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165530 5281 sw7365;dbsnp10499 CR026_HUMAN;NP_775900.1 "D154G,I47V,R106C,T189P,V123M,V38A" "0,0,0,0,0,0" 284254 12747 sw7366;dbsnp3641 K2C78_HUMAN;NP_775487.2 "A164D,A164V,A238T,A293T,G224A,G446V,G45R,G46R,G481S,G67E,I281S,L92P,M322T,Q105R,R108W,R21C,R240K,R25H,R274H,R363H,R7Q,S19F,S262N,S401I,T109M,T306I,T400M,T509A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196374 6301 sw7367;dbsnp21709 CRPAK_HUMAN;NP_787114.2 "A116T,A133V,A147T,A200D,A226V,A342T,A395T,A44T,C143R,C174R,C276R,C27R,C27Y,C327R,C89Y,D163H,D225H,D91G,D91H,E165G,E298G,H194D,H194N,H326Q,H326R,H358D,H358Y,H369D,H95P,H95R,H95Y,I190L,L108H,L221I,M122T,M153T,M153V,M215T,M246I,M266I,M286T,M48V,N9H,P111R,P121L,P142R,P173Q,P173R,P208L,P229L,P229S,P285L,P379R,R123W,R130C,R154W,R161C,R161H,R192H,R204P,R219C,R235P,R250H,R255P,R275P,R275Q,R290H,R294C,R314C,R352H,R356H,R367H,R430H,R54H,R58H,R69C,S198P,S217R,S248G,S268G,S288G,T171M,T17K,T17M,T184M,T202M,T273M,V100M,V120M,V151M,V195A,V218A,V420I,V70A,V70I,W185R,W216R,W247R,W349R,W51R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285464 7656 sw7369;dbsnp27502 CAH13_HUMAN;NP_940986.1 "G82D,G99V,L205F,N68S,P84T,S198F,S221F,T178A" "0,0,0,0,0,0,0,0" 377677 11646 sw736;dbsnp21162 NDUB5_HUMAN;NP_002483.1 "D127Y,I57F,T34P,Y133H" "0,0,0,0" 4711 13184 sw7370 THEM5_HUMAN "D197G,L206V,Y55S" "0,0,0" 284486 11973 sw7371;dbsnp9070 S39AB_HUMAN;NP_001153242.1 "A105T,A218G,A287V,G245A,G266A,G74S,R253Q,R38Q,S34N,T111A" "0,0,0,0,0,0,0,0,0,0" 201266 9853 sw7373;dbsnp9246 WDR16_HUMAN;NP_659491.4 "A153V,A161V,A245V,A80T,E336K,G263D,H63Q,I72V,P279S,R170Q,R369Q,R492C,T591I,V139M,V372M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146845 4911 sw7374 YF005_HUMAN "D363G,P419S,V458A" "0,0,0" 100996634 5241 sw7376;dbsnp26859 INT1_HUMAN;NP_001073922.2 "C1633F,D1317G,G52S,H1873Y,P172L,P1818S,V146L,V1497A" "0,0,0,0,0,0,0,0" 26173 343 sw7377;dbsnp11406 SYNE4_HUMAN;NP_001034965.1 "A175P,Q278H,R267W,S224L" "0,0,0,0" 163183 8505 sw7378;dbsnp25037 SCML4_HUMAN;NP_932347.2 "A106T,G158D,G183S,I53T,N105S,P7L,R126Q,R337W" "0,0,0,0,0,0,0,0" 256380 8291 sw7379;dbsnp19050;dbsnp19051;dbsnp19052 PROM2_HUMAN;NP_001159450.1;NP_653308.2;NP_001159449.1 "A146V,D306V,E188K,E275K,E341K,F790L,G256S,G393S,G513S,P381A,Q508L,Q508P,Q508R,R315H,R807C,T179M,V107M,V428M,V829I,Y116C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150696 3009 sw737;spmut160;dbsnp11765 ASNA_HUMAN;NP_004308.2 "D284N,N332S,W8L,Y256F,Y256S" "0,0,0,0,0" 439 9702 sw7380;dbsnp14220 ANR35_HUMAN;NP_653299.3 "A160T,A259T,A731T,C294R,E286G,E661Q,G900E,H740Q,I920T,L471P,L495V,L599P,L613M,N53K,N978D,P428S,Q250H,Q490H,R121C,R16K,R244Q,R246W,R35H,R592Q,R654G,R739P,R893L,S295L,V317M,V473G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148741 2106 sw7381;spmut747;dbsnp23829 GAPT_HUMAN;NP_689900.1 "A83T,C57R,D91G,E110D,R36H" "0,0,0,0,0" 202309 13780 sw7382;spmut1564;dbsnp9800 PLD6_HUMAN;NP_849158.2 "L42P,N173K,R108H" "0,0,0" 201164 11865 sw7383;dbsnp3993 DEPD4_HUMAN;NP_689530.1 "H122R,K119Q,N113S,N269K" "0,0,0,0" 120863 11004 sw7384;dbsnp19282 UNC80_HUMAN;NP_115893.1 "A231T,A878G,D1167H,D1505G,E1146D,G1336S,G133A,H637R,I2564V,P3102L,P341S,Q2734K,Q340H,R131W,R1522Q,R1864W,R2486Q,R3088Q,R3108L,S1068A,S1126R,S312A,S669T,T1311I,T135I,T3185R,V1984L,V2448L,V901I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285175 118 sw7385 CU128_HUMAN V98F 0 150147 13678 sw7386;dbsnp26016 VWDE_HUMAN;NP_001129396.1 "A727V,C1050Y,C1298F,C890F,E313D,E670K,E803K,E869K,F1485C,F292I,F826L,G1009R,G340D,H684Y,H985Q,I283N,K1025N,K1081N,K1315R,K964N,L1131V,L1247I,L45F,L562M,L767V,M742V,N392D,N986S,P1096A,P188L,P25S,Q1256K,R1161C,R1171G,R1573H,R39H,R439K,R96S,S142F,S555N,S607F,S833T,T1032M,T122P,T1423I,T529K,V1176L,V1475I,V1501M,W17S,Y591S,Y804H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221806 741 sw7387;dbsnp27209 ARM10_HUMAN;NP_114111.2 "A330G,A48S,D326E,G230R,H313R,N94H,P190S,S150F,S180G,V260M" "0,0,0,0,0,0,0,0,0,0" 83787 9835 sw7388;dbsnp1206 ZCH24_HUMAN;NP_699198.2 "E43V,Y89D" "0,0" 219654 12100 sw7389;dbsnp272 PYRD2_HUMAN;NP_116098.2 "A293G,A293V,A312V,A533T,A565P,D481N,D577Y,G286A,M461T,P18A,P259L,P428S,P96L,Q315H,R168H,R210H,R22G,T243A,T25M,T352M,W280R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84795 5395 sw738;spmut244;dbsnp19285 BUB1_HUMAN;NP_004327.1 "A226V,A502S,E36D,G20D,H265N,H620P,K279T,K958N,N534D,P648R,S492Y,V581I,V647M,Y259C" "0,0,1,0,1,0,0,0,0,1,1,0,0,1" 699 1770 sw7390;dbsnp2727 PELI3_HUMAN;NP_659502.2 "A307V,E39Q,V287M" "0,0,0" 246330 7222 sw7391;sws849;dbsnp14041 STK40_HUMAN;NP_114406.1 "A10V,A395T,H101N,N357Y,R251H,R3W" "0,0,0,0,0,0" 83931 7859 sw7392;dbsnp16088 ABD12_HUMAN;NP_001035937.1 "A349T,D135E,R257W,R279C,R383Q,V68A,V68M" "0,0,0,0,0,0,0" 26090 8512 sw7393;dbsnp2293 TM86A_HUMAN;NP_699178.1 "A126V,S36L,V215A" "0,0,0" 144110 12122 sw7394;sws850 CLASR_HUMAN K174E 0 11129 4327 sw7395;dbsnp18347 AN36B_HUMAN;NP_079466.3 "A466T,A549T,D520N,E316K,E483G,E496D,E724D,E896G,I480T,K241E,M548I,R1043G,R1050L,R261P,R526T,R703P,S534A,T560K,V117F,V561M,V608D,Y1042C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57730 459 sw7396;dbsnp10782 LTBP4_HUMAN;NP_001036009.1 "A748S,C311G,D752N,E1517Q,G480D,H1612P,M548V,P1037R,P1454Q,P679A,R1251W,R635G,S501T,T1141M,T787A,T820A,V1254M,V194I,Y909S" "0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8425 707 sw7397;dbsnp23572 CE055_HUMAN;NP_612473.1 "G88D,L7W,P2L,P50S,R118G,T37S" "0,0,0,0,0,0" 116349 14415 sw7398 RUSC2_HUMAN "P654L,T73A" "0,0" 9853 804 sw73;dbsnp25935 GTPBA_HUMAN;NP_149098.2 "C88W,K271R,L164F,L55S,M368I,N110S,N113D,P173T,P204L,S78I" "0,0,0,0,0,0,0,0,0,0" 85865 8849 sw7400 MUC20_HUMAN "C3S,G514R,P590L,R666W,S671C,T442I,V18G" "0,0,0,0,0,0,0" 200958 3984 sw7401;dbsnp4079 LRC43_HUMAN;NP_001091989.1 "A218T,G352S,I271V,Q256K,R89C,Y265H,Y344C" "0,0,0,0,0,0,0" 254050 4524 sw7402;dbsnp24808 CF223_HUMAN;NP_694978.2 "G15S,K195N,K48E,L175H,M113I,N242D,P196S,P86S,Q203P,R44K,T19M,T205N,V107M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 221416 12076 sw7404;dbsnp605 CJ111_HUMAN;NP_694976.1 "G125S,G21V,K65M,M25I,M27V,R70K,R85P,T136S,T50A" "0,0,0,0,0,0,0,0,0" 221060 13815 sw7405;sws852;dbsnp532 PGBD3_HUMAN;NP_736609.2 "C282Y,G461R,H8R,Q446E,R382K,T129I,V208G,V383A" "0,0,0,0,0,0,0,0" 267004 5227 sw7407 MT1M_HUMAN T20K 0 4499 14888 sw7408;dbsnp11724 MIER2_HUMAN;NP_060020.1 "D104N,D68N,E19D,P148L,P189S,P464S,Q140R,Q43H,R289W,S142F,S485G,S55T" "0,0,0,0,0,0,0,0,0,0,0,0" 54531 5914 sw7409;dbsnp14694 OR2LD_HUMAN;NP_787107.1 "D174E,F103L,I33V,L156F,L273R,M283V,R265H,S116C,T257I,V193G,V50L" "0,0,0,0,0,0,0,0,0,0,0" 284521 9213 sw7410;spmut1061;dbsnp8056 KDM8_HUMAN;NP_079049.2 "A118T,D299N,D369N,D369Y,E302D,E58K,G38R,I97V,L320P,P27L,R156H,Y398H,Y398N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79831 7511 sw7411;dbsnp11677 LRC25_HUMAN;NP_660299.2 "C285Y,H124Q,M295V,P234T,P294S,R199P,S20N,T8A" "0,0,0,0,0,0,0,0" 126364 10755 sw7412;dbsnp1334 MUC15_HUMAN;NP_663625.2 "D130N,G20R,I184T,N76S,S19W,T202I,T226M,Y204H" "0,0,0,0,0,0,0,0" 143662 9398 sw7413;dbsnp24948 RHG18_HUMAN;NP_277050.2 "D77N,G124R,G32R,K248R,N91S,Q165H,R352Q,R39H,S587L,T23A,T271M,V24A,V24G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 93663 4447 sw7414;dbsnp3313 TMTC2_HUMAN;NP_689801.1 "A134S,A315T,D741Y,E4K,E729K,L612V,P388R,Q347H,Q634R,R139G,R820H,T278A,T577M,V381I,Y443S,Y616C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 160335 2997 sw7416;spmut153;dbsnp24324;hgmd0613_1542 ASCC3_HUMAN;NP_006819.2 "A1124T,A395T,A913G,C1800W,D159N,D300G,E344K,E440K,H2094Y,I1285T,I1285V,I2040V,K710R,L146F,N478S,N490T,Q2083H,R1497T,R1514Q,S1016C,S1995C,V1050I,V1425A,V1930M,Y1203C,Y2176C,Y666C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10973 341 sw7417;dbsnp18625 CLIP4_HUMAN;NP_078968.3 "H361L,H361R,I87V,P234L,P345S,P522R,R486L,R605H,R659Q,S27C,T613P,V425F" "0,0,0,0,0,0,0,0,0,0,0,0" 79745 4036 sw7418;dbsnp1703 EH1L1_HUMAN;NP_001092879.1 "A889G,D569V,E635K,E94G,L1404P,L1481V,Q955L,R230Q,R307Q,T454I,T599I,T648I,V1149L,V133L,V538G,V78M,Y1086C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254102 798 sw7419;dbsnp10059 PLCD3_HUMAN;NP_588614.1 "A570G,C699R,P652L,R488Q,R788P" "0,0,0,0,0" 113026 3296 sw7420;sws854;dbsnp17514 MILK1_HUMAN;NP_203744.1 "A519S,A78T,E731K,F60L,H685R,N850S,P207L,P297A,P500L,P583L,R477C" "0,0,0,0,0,0,0,0,0,0,0" 85377 2809 sw7421;dbsnp5458 G137C_HUMAN;NP_001093122.1 "S27R,V248I" "0,0" 283554 7961 sw7422;dbsnp26670 TM130_HUMAN;NP_001127922.1 "A298V,D307A,E407V,P387L,R276H,R94C,T222M,T77N,V206L,V206M,V294M" "0,0,0,0,0,0,0,0,0,0,0" 222865 7860 sw7424;sws855;dbsnp10447 METL4_HUMAN;NP_073751.3 "A424V,C59R,D267E,E230D,G379V,L163F,N276S,Q310K,V412M,V468L" "0,0,0,0,0,0,0,0,0,0" 64863 7168 sw7425;dbsnp8610 CQ053_HUMAN;NP_076937.2 "A27T,E622Q,I234T,M223V,N497T,N613T,P241L,P297L,P44S,Q279K,R102K,R318Q,R92C,S646G,T126P,V104A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 78995 4616 sw7426;spmut1607;dbsnp22439 PPM1K_HUMAN;NP_689755.3 "A325V,E321K,H286Q,I146V,I224V,N94K,R210Q,T161A" "0,0,0,0,0,0,0,0" 152926 9166 sw7427;dbsnp23110 CMYA5_HUMAN;NP_705838.3 "A1295V,A1333V,A1567E,A1875V,A1961G,A1961V,A471T,D190G,D1917G,D53E,E3503Q,E584A,F1038L,F594L,G1750R,G2324R,G2324S,G2935R,G349D,G591D,H3358Q,I1309V,I1380V,I1713N,I1721V,I3577V,K166R,K2160E,K2383E,K2906N,K3583E,L1669S,L2429F,N4024D,P3380L,P3712S,P4063L,P870L,Q1648R,Q175H,R2708H,R2880H,R3826Q,R3927Q,R790H,S1599A,S1725L,S174R,S1920G,S2012F,S651R,T1049I,T2693I,T2988P,T335I,V1006A,V121L,V1247I,V2262L,V616I,Y2320H,Y3957H,Y64C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 202333 74 sw7428;dbsnp25077 TXLNB_HUMAN;NP_694967.3 "A11T,A534G,A571T,A602P,D535H,E107K,E591K,G117E,G583R,G612S,I527T,K521R,L147P,N494D,N97S,P113A,P158L,P594L,Q264H,Q371R,R177H,S651G,T361A,V114I,V348M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 167838 4230 sw7429;dbsnp20583 VPS8_HUMAN;NP_001009921.1 "A654V,E20D,E953K,H1165Y,I1364T,I83V,I992L,K43R,R1372H,S1319N,S192T,V583I" "0,0,0,0,0,0,0,0,0,0,0,0" 23355 941 sw7430;dbsnp21184 CC023_HUMAN;NP_776187.2 "A494S,E493K,H4P,Q333L,R217H,R242C,S446C,V279M,Y463F,Y88F" "0,0,0,0,0,0,0,0,0,0" 285343 6725 sw7431;dbsnp20358 GLTL2_HUMAN;NP_473451.3 "A432T,A581S,H510Y,L207F,L207V,P151L,P324A,R389Q,R618H,T150I,V68G" "0,0,0,0,0,0,0,0,0,0,0" 117248 4706 sw7432;dbsnp3595 T132C_HUMAN;NP_001129575.2 "A133V,A416V,A504V,A515T,A590T,A929T,D729N,E419K,F799I,G810R,H161R,I323V,L433S,N685S,P168Q,Q915E,R1034Q,R918P,R918Q,S394R,T224S,T402M,T509I,T730S,V232M,V272I,V311I,V444I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92293 1689 sw7433;dbsnp29937;dbsnp29938 STAG2_HUMAN;NP_006594.3;NP_001036216.1 "A133T,H20D,I524V,L669I,N699K,P1134L" "0,0,0,0,0,0" 10735 1237 sw7434;dbsnp2355 FNBP4_HUMAN;NP_056123.2 "A60P,A60S,E125G,I819V,P49R,Q237H,Q257E,S783C,T759S,T794A" "0,0,0,0,0,0,0,0,0,0" 23360 2038 sw7435;dbsnp3851 FBXW8_HUMAN;NP_699179.2 "A377T,E253D,G514R,H189P,M504T,R192Q,R424C,R553Q,S523G,T211A,T536M,T584S,V489I,V563M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26259 5158 sw7436;dbsnp1899 LARG2_HUMAN;NP_689525.3 "C450Y,D234A,E37K,E404K,G637S,H422R,P421T,P424L,Q381E,R546W,R591Q,R677C,R677H,R683C,V492M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120071 3552 sw7437;dbsnp27692 RDHE2_HUMAN;NP_620419.2 "E252A,R62W,S203C" "0,0,0" 195814 10666 sw7438;dbsnp24356;dbsnp24357 PRS35_HUMAN;NP_699193.2;NP_001163894.1 "D176N,F144Y,G413A,N332S,P260L,R224Q" "0,0,0,0,0,0" 167681 8315 sw7439;dbsnp20107 GTPB8_HUMAN;NP_054889.2 "E89Q,K149R,L68V,Q242H,R187Q,R92S,V100A,V96D" "0,0,0,0,0,0,0,0" 29083 11202 sw743;dbsnp4299 GATC_HUMAN;NP_789788.1 S3L 0 283459 14144 sw7440;dbsnp28493 ZCHC7_HUMAN;NP_115602.2 "A354T,D247Y,D87N,G118D,I416T,P371L,R539K,S236A,S62L,V406I,Y285H" "0,0,0,0,0,0,0,0,0,0,0" 84186 5944 sw7442 CD037_HUMAN "C111W,F112V,I178V,K279R,V420A,Y125H" "0,0,0,0,0,0" 285555 7416 sw7443;dbsnp1499 S2545_HUMAN;NP_872362.2 "G58E,M100T,M224V,P96L,R143W,R251Q,R285C,V18F,V40I" "0,0,0,0,0,0,0,0,0" 283130 11141 sw7444;dbsnp10890 LIRB2_HUMAN;NP_005865.2 "A359V,A361V,A556D,A556V,C306W,D314N,D403N,E158V,E161D,E412V,E584K,F326S,H20R,H300Y,I327L,K573E,L459V,N401S,P219L,P375A,P413T,P557S,Q350P,R103H,R253K,R270Q,R322H,R349G,R349W,R550Q,R583G,R95Q,T23A,T318A,T324R,T561I,V134G,V235M,V286L,V470D,V5I,Y205C,Y290H,Y405H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10288 4574 sw7445;sws856;dbsnp26309 TXND3_HUMAN;NP_057700.3 "A544T,C208R,D115N,E247K,I204V,I338T,I469L,I493T,Q76K,R336H,R43K,Y277H,Y432H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 51314 5299 sw7446;dbsnp5926;dbsnp5927 GLTL1_HUMAN;NP_001161840.1;NP_065743.2 "E402V,L431F,M224I,P497S,Q156R,R184H,R197H,R234H,R413C,T108P,V201M,V206I,V338I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57452 5530 sw7447;dbsnp26291 SVOPL_HUMAN;NP_001132928.1 "A22T,A301T,A69D,F385C,G200E,G200R,G431V,G436S,I348T,I474V,M63L,P254L,R206C,R227Q,R227W,R250H,R345Q,R440H,R486Q,R76C,T145M,V245I,V99I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 136306 6811 sw7448;dbsnp585 CPXM2_HUMAN;NP_937791.2 "G592A,G643D,G643V,K577R,N454S,N658K,P741L,Q750R,R129H,R158H,R158L,R204K,R272C,R415Q,R549C,R744P,R744Q,V611L,Y159N,Y180H,Y480C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119587 1533 sw7449;dbsnp22086;dbsnp22087;dbsnp22088 FGRL1_HUMAN;NP_068742.2;NP_001004356.1;NP_001004358.1 "G290S,H450R,P362Q,P464L,R327H,R424L" "0,0,0,0,0,0" 53834 6582 sw744;spmut919;dbsnp29743;dbsnp29744 HTSF1_HUMAN;NP_055315.2;NP_001156752.1 "C471F,D678G,E562K,F730S,G478A,G731R,N526T,N703S,R618K,S40A" "0,0,0,0,0,0,0,0,0,0" 27336 3565 sw7450;dbsnp22109 GUF1_HUMAN;NP_068746.2 "C221S,D202G,D277N,I503V,I95V,K645R,K97E,L417Q,L58P,P245L,Q133R,Q172E,R250C,R390Q,S148I,T329I,T431A,V287I,V620I,V652A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60558 4382 sw7451;dbsnp5102 LNX2_HUMAN;NP_699202.1 "A215T,A409G,D394N,E212D,H104Q,H436D,P204S,S196F,S198P,T199I,V145I,V660M" "0,0,0,0,0,0,0,0,0,0,0,0" 222484 4169 sw7452;dbsnp591 LRC18_HUMAN;NP_001006940.3 "D219E,G7V,I163L,K36R,R31H,T139I,T229M,V136M" "0,0,0,0,0,0,0,0" 474354 11676 sw7453;dbsnp8013 FXL16_HUMAN;NP_699181.2 "A32V,L429P" "0,0" 146330 7022 sw7455;dbsnp14297 MFSD4_HUMAN;NP_857595.3 "G192S,G314A,G462S,L228I,L78Q,R103H,R103L,V196I" "0,0,0,0,0,0,0,0" 148808 6405 sw7456;sws857;dbsnp22027 FSTL5_HUMAN;NP_064501.2 "A504T,D711Y,E17D,E44K,G193E,G395V,I173V,K149N,K177N,K815E,L805F,M453T,N285S,N291Y,R795Q,S248R,V10L,V648I,V835F,Y224C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56884 2917 sw7457;dbsnp24190 LIX1_HUMAN;NP_694966.3 "P21L,R3I" "0,0" 167410 9977 sw7459;spmut745;dbsnp3699 GALT4_HUMAN;NP_003765.2 "D51G,I270T,R557Q,S234Y,V196G,V316I,V506I" "0,0,0,0,0,0,0" 8693 5391 sw7460;dbsnp8846 FBX39_HUMAN;NP_694962.1 "D2E,E6G,I363M,I8F,K294R,L231F,P10S,Q279E,R138C,R26H,R291W,R57Q,R87H,S221T,V227E,V260I,Y166C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162517 7725 sw7461;dbsnp25053 PRR18_HUMAN;NP_787118.2 C136S 0 285800 10978 sw7462 NIN_HUMAN "G1320E,Q1125P" "0,0" 51199 367 sw7463;sws858;dbsnp9043 MINK1_HUMAN;NP_722549.2 "A514T,D967N,I1200V,P775L,R694H,S1184C,S1184R,T629M,V771A,V771D,V771G,V863I" "0,0,0,0,0,0,0,0,0,0,0,0" 50488 1104 sw7464;dbsnp8854 CQ078_HUMAN;NP_775896.3 "D170N,S13F,T152S" "0,0,0" 284099 11366 sw7465;sws859;dbsnp16462 BPIB2_HUMAN;NP_079503.1 "A43T,A63V,D359H,I397F,K31M,L13V,M312V,N185S,N73K,R28Q,R299Q,S287L,V17E,V18I,V197M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80341 7441 sw7466 RN175_HUMAN "I315M,I322N,L307F,M159V" "0,0,0,0" 285533 10195 sw7467;dbsnp21017 ARL14_HUMAN;NP_079323.1 "D83N,G163R,G25R,L58F,P117T" "0,0,0,0,0" 80117 13133 sw7469;sws860;dbsnp13149 CTL3_HUMAN;NP_001107578.1 "A579V,C545R,G69D,H434R,I536V,P163S,R178Q,R476Q,S374L,V362I,V438I,Y51H" "0,0,0,0,0,0,0,0,0,0,0,0" 126969 4556 sw7470;dbsnp9171 KIF2B_HUMAN;NP_115948.4 "A112V,A82T,A86T,C12R,C217W,D129G,D241G,D254Y,D316G,E277K,G128R,G315E,G362D,L620M,M574I,N408S,N488K,P148S,P417S,P91L,R257C,R36C,R437G,R504Q,R552C,T514A,V205L,V387I,W370S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84643 3669 sw7471;dbsnp18597 TT30B_HUMAN;NP_689730.2 "A375V,G144R,H600Y,I234T,I446V,K91T,L604P,Q119R,R117H,R82G,Y90H" "0,0,0,0,0,0,0,0,0,0,0" 150737 4421 sw7472;dbsnp13126 LRC71_HUMAN;NP_653303.2 "A533T,I484L,R483H,S503A,V26A,V513M" "0,0,0,0,0,0" 149499 5701 sw7473;dbsnp10554 ZADH2_HUMAN;NP_787103.1 "C323F,D207A,G168R,R351H,R351L,S317N,T133A,T288I,V366L,Y245C" "0,0,0,0,0,0,0,0,0,0" 284273 9040 sw7474;dbsnp2069 CCD82_HUMAN;NP_079001.2 "D125E,I34V,K128R,K326R,Q149E,Q327R,Q91E,R179Q,R211H,R255C,S131N,S154N,S470R,T108A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79780 5928 sw7475;dbsnp23161 MALD2_HUMAN;NP_001033692.2 "A122T,A72G,A72V,D11Y,D74G,I195M,I270L,I437T,L130H,L300M,M345V,P59L,Q167R,S241N,T33I,V438M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 153562 5721 sw7476;dbsnp27812;hgmd0613_1935 CBPA6_HUMAN;NP_065094.3 "A270V,A424V,F45L,G267R,L413F,N249S,Q207E,R311Q,S173C,V306I" "1,0,0,1,0,0,1,0,0,0" 57094 7821 sw7477 CI100_HUMAN "C5F,H306R" "0,0" 84904 10017 sw7478;dbsnp21993 CBR4_HUMAN;NP_116172.2 "D184H,I130V,I207V,L70M,R16T,S54C,T186M" "0,0,0,0,0,0,0" 84869 12181 sw7479;dbsnp3960 T11L2_HUMAN;NP_689985.1 "A327E,A414G,A414V,A41T,A82S,D261N,E507K,I106L,I267T,L295P,L306F,P235L,R150Q" "0,0,0,0,0,0,0,0,0,0,0,0,0" 255394 6329 sw747;dbsnp30286 ITM2A_HUMAN;NP_004858.1 "A124V,A72V,I84V,R230T" "0,0,0,0" 9452 11620 sw7480;dbsnp10870 ZN808_HUMAN;NP_001034975.2 "A177G,D262N,G321D,H383Y,I891T,K134N,K288E,R523W,R586H,R586S,R754C,S437N,T462I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 388558 2403 sw7481;spmut58;dbsnp413 AF1L2_HUMAN;NP_001001936.1 "A159T,A176T,A772V,A778P,D16N,E229D,E402D,E570K,E726K,G138R,G725D,H762N,K482N,L412F,L701V,L7P,N83S,P285L,R109W,R42W,R769C,S366R,S552N,S559T,S576P,S767R,T242I,T522S,T617M,V543I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84632 3100 sw7483;dbsnp8564 TM199_HUMAN;NP_689677.1 "A37V,E204K,L15S,L166V,R102W,R178W,V122I,V158I,Y86H" "0,0,0,0,0,0,0,0,0" 147007 12784 sw7484;dbsnp8081 OGFD1_HUMAN;NP_060703.3 "C308R,D535E,E264K,H258Y,H441Y,L104M,M56I,M56V,P173S,Q282K,T448I,T509A" "0,0,0,0,0,0,0,0,0,0,0,0" 55239 5961 sw7485;dbsnp7725 ZN276_HUMAN;NP_001106997.1 "D313H,E605D,G560D,I455V,K422Q,R115W,R275W,R351W,T177R,V114I,V486M,W263R" "0,0,0,0,0,0,0,0,0,0,0,0" 92822 4981 sw7486;spmut59;dbsnp22347 AFAP1_HUMAN;NP_940997.1 "A537V,A609V,C713S,D78E,G134A,G490S,K614R,R365C,R393H,R476C,R476S,S310L,S403C,S631R,S664L,T487I,T546M,V518M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60312 3122 sw7487;dbsnp18348 MREG_HUMAN;NP_060470.2 "G15R,P210L,S38F" "0,0,0" 55686 12651 sw7488;dbsnp23686;dbsnp23687;dbsnp23688 ZCHC9_HUMAN;NP_001124508.1;NP_115656.1;NP_001124507.1 "A146T,E233A,K57E,K65N,M235I,N12S,P15A,R113W,R240C,R240G,S232P" "0,0,0,0,0,0,0,0,0,0,0" 84240 11456 sw7489;dbsnp22304 DCLK2_HUMAN;NP_001035350.2 "D600G,F99L,G119C,G358S,I374L,I583V,K429R,N692H,P748R,R372H" "0,0,0,0,0,0,0,0,0,0" 166614 3335 sw748;spmut360;dbsnp8108 CHP2_HUMAN;NP_071380.1 "R127H,R127P,R141H,R48H,R77Q,V186I,V59M" "0,0,0,0,0,0,0" 63928 13050 sw7490;dbsnp27474 OXR1_HUMAN;NP_001185461.1 "A30S,E100G,E67K,K516R,M304I,N254S,N321S,P26L,Q360P,R568K,R65K,T176I,T186P,V160I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55074 2746 sw7491;dbsnp16178 ZGPAT_HUMAN;NP_115916.3 "E478K,E4K,G514S,H487D,K527N,P105L,P105R,P181L,R408H,S287I,S61R,V297M" "0,0,0,0,0,0,0,0,0,0,0,0" 84619 6111 sw7492;dbsnp3989 CERS5_HUMAN;NP_671723.1 "C75R,F67L,I122L,R20C,R379Q" "0,0,0,0,0" 91012 8753 sw7493;dbsnp18701 SRBD1_HUMAN;NP_060549.4 "A180T,A578V,A92G,D382H,F895C,H395L,H395R,K811R,M376V,N70S,N769K,P198L,P822A,Q191H,Q856L,R388W,R478S,R523W,R537C,R66W,R984Q,T361A,T361M,V798F,W161L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55133 2124 sw7494;dbsnp6796;dbsnp6797 DTWD1_HUMAN;NP_001138427.1;NP_064619.2 "E13K,I140V,I30T,L9P,P85L,S25P,Y73C" "0,0,0,0,0,0,0" 56986 10778 sw7495;dbsnp29944 TAB3_HUMAN;NP_690000.2 "L8R,P156R,R710Q,S239L,V646M,W394R" "0,0,0,0,0,0" 257397 3951 sw7496;dbsnp28610 GBGT1_HUMAN;NP_068836.2 "D200N,D322N,E133K,E198Q,E274G,F239L,I111T,I291F,L20F,L79P,P328R,P60S,Q238P,R163Q,R163W,R194T,R236H,R243H,S166G,S21G,T114M,T248I,V90I,Y241C,Y66C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26301 9737 sw7497;dbsnp30124 NKAP_HUMAN;NP_078804.2 "K229T,P115H,R188H,S176C,S176F,S31G" "0,0,0,0,0,0" 79576 8277 sw7498 CD052_HUMAN "A109T,A41T,H76N,S65N" "0,0,0,0" 389203 13573 sw7499;dbsnp28649 SH2D3_HUMAN;NP_733745.1 "A342V,A510V,A52D,A663T,G454R,K667R,L23F,P490S,R387G,R524G,R588W,R592W,S181G,V159A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10044 2831 sw749;dbsnp7369 AP1G1_HUMAN;NP_001119.3 "I419V,P685H,T179S,V195G,V590L" "0,0,0,0,0" 164 3063 sw74;dbsnp25962 WDR91_HUMAN;NP_054868.3 "A30S,D559Y,E368A,N506S,P257L,Q183H,Q280R,Q665R,R196H,T22M,V423I" "0,0,0,0,0,0,0,0,0,0,0" 29062 3635 sw7500;dbsnp29164 ARRD1_HUMAN;NP_689498.1 "E240K,G363C,G363R,N287T,Q184H,Q343R,R234Q,R294Q,R342W,R42Q,S340W,T395A,V332I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 92714 7891 sw7501 DHRSX_HUMAN "E297K,H292R,V247L" "0,0,0" 207063 10145 sw7502;dbsnp3527 CL045_HUMAN;NP_689531.2 "A93V,D19H,G5S,K8Q,S145L,V175I" "0,0,0,0,0,0" 121053 13264 sw7503 FA63A_HUMAN T385K 0 55793 4900 sw7505;dbsnp28356 RM50_HUMAN;NP_061924.1 "L127F,R58Q" "0,0" 54534 13766 sw7506;dbsnp19280 ZC3H8_HUMAN;NP_115883.2 "C240W,G164D" "0,0" 84524 11070 sw7508;dbsnp10894 S2541_HUMAN;NP_775908.2 "A104V,A91V,G144S,L26V,L97P,T219K,T258S" "0,0,0,0,0,0,0" 284427 9193 sw7509;dbsnp18025 CB073_HUMAN;NP_001093866.1 "A271V,G136R,H29N,P254L,R275T,R48C" "0,0,0,0,0,0" 129852 11158 sw750;dbsnp7491 OR1F1_HUMAN;NP_036492.1 "C179W,D111E,F107S,F12V,F75S,G16E,H122R,H131R,K186R,L184P,L87I,M101I,P262S,P58A,S264Y,T209N,T282I,T282S,V126M,Y60H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4992 10504 sw7510;dbsnp9269;dbsnp9270 KKCC1_HUMAN;NP_115670.1;NP_757343.1 "E375G,E422D,H112Y,Q499R,R78W,V347A,V426M" "0,0,0,0,0,0,0" 84254 6312 sw7511;dbsnp22310 TBC19_HUMAN;NP_060787.2 "A81S,I295V,I404V,R166C,S241G,S509F" "0,0,0,0,0,0" 55296 6192 sw7512;dbsnp2318 CK042_HUMAN;NP_775796.2 "A44T,C168F,M1R,P242S,R124H,R154Q,R68Q" "0,0,0,0,0,0,0" 160298 10071 sw7513;dbsnp1585 M4A15_HUMAN;NP_001092305.1 "A150S,A226V,L47R,S20G,V109I" "0,0,0,0,0" 219995 12123 sw7514;dbsnp4273 RNF10_HUMAN;NP_055683.3 "A409V,A666V,D724G,E433D,G387R,I769L,L332F,L580F,P97L,S383L,S383W" "0,0,0,0,0,0,0,0,0,0,0" 9921 3136 sw7515;dbsnp18773 NGEF_HUMAN;NP_062824.2 "D397N,I528M,K51N,M111T,N571K,R248S,R78G,V344I,V348M,V423I,V539G" "0,0,0,0,0,0,0,0,0,0,0" 25791 3971 sw7516;dbsnp241;dbsnp242 FA24B_HUMAN;NP_689857.2;NP_001191293.1 "N45S,P2L" "0,0" 196792 14585 sw7517;spmut1277;dbsnp29628 MS3L1_HUMAN;NP_523353.2 "A340S,A453G,K199Q,N220S,S144R,S2T,S365N,V251I" "0,0,0,0,0,0,0,0" 10943 6282 sw7518 PAR16_HUMAN S280P 0 54956 10333 sw7519;dbsnp22476;dbsnp22477 AADAT_HUMAN;NP_872603.1;NP_057312.1 "T342S,V243I" "0,0" 51166 8039 sw7520 KCD17_HUMAN R51G 0 79734 10370 sw7521;spmut538 DPP10_HUMAN V401I 0 57628 2798 sw7522;dbsnp2070 F16A2_HUMAN;NP_001092264.1 "A541V,G658R,K654Q,L678P,M742I,N308S,P438L,P718L,Q754H,R142P,R459C,R462W,R470C,R564C,R57W,R619L,R727W,R848C,S487C,T491M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84067 2156 sw7523;dbsnp21933 TM156_HUMAN;NP_079219.1 "M188I,M212T,N192K,P28L,S105P,S99L,V272I,Y48C" "0,0,0,0,0,0,0,0" 80008 10955 sw7524 OR2C3_HUMAN "L289V,P68S,R129S,T20A" "0,0,0,0" 81472 9497 sw7526;dbsnp527 CJ012_HUMAN;NP_056467.2 "A148P,A716P,A736T,C1236R,D504G,D697G,E266K,E299G,E396G,E453G,G369R,G969S,H986Y,I535L,K276E,L314P,L360F,N49S,N579S,P401A,P988A,R143Q,R614G,S719L,T231N,T556P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26148 1292 sw7527;dbsnp13216;dbsnp13217 NBPFF_HUMAN;NP_775909.2;NP_001164226.1 "A643T,D237N,D449G,D477A,F69S,G593S,H627Q,I401L,I401V,L399W,P346H,P615Q,Q621L,R610G,R75Q,T239A,V391I,V594M,V603I,V646L,V646M,Y618F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284565 98 sw7528;dbsnp11643 TM86B_HUMAN;NP_776165.3 "A176T,A3T,C14F,H199R,M1V,P221L,S220T" "0,0,0,0,0,0,0" 255043 12412 sw7529;dbsnp16678 DB125_HUMAN;NP_697020.2 "H62Y,I60T,M111I,R16W" "0,0,0,0" 245938 13797 sw752;dbsnp22772;hgmd0613_1543 LIAS_HUMAN;NP_006850.2 "P251S,R15P,R19S,R249H,R315H" "0,0,0,1,0" 11019 9157 sw7530;dbsnp30063 ESX1_HUMAN;NP_703149.1 "E44D,F406S,H9R,K193R,L31F,L375V,R281C,R290C,S280P,T314P,T34I" "0,0,0,0,0,0,0,0,0,0,0" 80712 8460 sw7531;dbsnp3298 SC5A8_HUMAN;NP_666018.3 "A35P,A35S,A35T,F10L,F251I,F251L,F251V,G111R,I28M,K314N,L337F,L337I,L337V,L410M,L410V,M210I,M490I,R609C,R609G,R609S,S255C,S255G,S255R,T557I,T557N,T557S,V193F,V193I,V193L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 160728 4935 sw7532;dbsnp4330 S15A4_HUMAN;NP_663623.1 "A577V,G243S,L427V,M413T,P188L,S279I,V239A,V407L" "0,0,0,0,0,0,0,0" 121260 5394 sw7533;dbsnp25291 MYCT1_HUMAN;NP_079383.2 "A101V,G119S,N211D,N51S,R127G,R133C,T195A,T54A" "0,0,0,0,0,0,0,0" 80177 12227 sw7534;dbsnp30584 IGSF1_HUMAN;NP_001546.2 N381H 0 3547 1082 sw7536;dbsnp11639 LIRA3_HUMAN;NP_006856.3 "A250T,A250V,A422E,D434N,G139R,G216E,G247D,G247V,G251S,L107R,L26I,L277P,L303V,L68P,L86P,N404D,P25H,P25T,P286L,P3S,P411A,Q22K,R179Q,R203H,R268C,R268L,R271P,R271Q,R323H,R331W,S194L,T296R,T409S,T40I,V21M,V330M,W307C,Y301H,Y406H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11026 4574 sw7537;sws862;dbsnp10582 ANR29_HUMAN;NP_775776.2 "D203E,D225A,E229G,G112E,L215I,R287H" "0,0,0,0,0,0" 147463 10835 sw7539;dbsnp26645 WBS27_HUMAN;NP_689772.2 "A150V,A36V,A54T,G161R,P219L,P229L,Q107R,R216W,R240Q,R86W,S171W,V74M" "0,0,0,0,0,0,0,0,0,0,0,0" 155368 12007 sw7540;dbsnp5110 TEX26_HUMAN;NP_689538.1 "K231N,N103S,N25K,P45L,R49H,V44A,Y76C" "0,0,0,0,0,0,0" 122046 11122 sw7541;dbsnp397 CGAT2_HUMAN;NP_061060.3 "A533V,E215K,G542D,I184T,L336V,N350T,N400S,P479S,R489H,R522G,T243M,T527M,V419I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55454 5962 sw7542;dbsnp28445 ATL1_HUMAN;NP_001035362.3 "A1014V,A503S,A643T,D1409G,E990A,G853R,G915D,I434T,K637R,L248P,L35V,L823I,N662S,P1653L,R1125H,R186W,R331H,S1026F,S201L,S242N,T471K,V131F,V170I,V559M,Y337D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92949 577 sw7543;dbsnp2043 ARFG2_HUMAN;NP_115765.2 "A166V,G519S,N103S,P143R,R339H,R339L,R406W,S411N,S520T" "0,0,0,0,0,0,0,0,0" 84364 6283 sw7544;dbsnp11586 EID2_HUMAN;NP_694964.3 "A6T,E60A,G43E" "0,0,0" 163126 12197 sw7545;dbsnp25467;dbsnp25468 SAMD3_HUMAN;NP_001017373.2;NP_001245204.1 "D181N,D460N,E443K,E94K,G69E,I50T,L81V,S11R,T371I,T67I,V14M,Y147C" "0,0,0,0,0,0,0,0,0,0,0,0" 154075 6302 sw7546;dbsnp11727 CC155_HUMAN;NP_653289.3 "D352N,F122L,L116P,R129Q,V54G,V64M" "0,0,0,0,0,0" 147872 5653 sw7547 KTAP2_HUMAN G32V 0 200185 13679 sw7549;dbsnp28956 AMPO_HUMAN;NP_001180258.1 "E548A,E680A,H573R,K104I,K757R,R255Q,R386C,R476H,R594W,R696L,R801W,R808G,S103N,T18A,T475P,V179A,V179I,V511M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84909 3094 sw754;dbsnp14977 DYRK3_HUMAN;NP_003573.2 "A196T,I163M,K330N,K42R,K84E,M239L,N574S,Q549R,R232Q,R248C,R248H,R438H" "0,0,0,0,0,0,0,0,0,0,0,0" 8444 5124 sw7550;dbsnp20908 IQCF1_HUMAN;NP_689610.2 "K57E,Q76K,R114Q,R143H,R152H,R161C" "0,0,0,0,0,0" 132141 12854 sw7551;dbsnp27026 ZFN2A_HUMAN;NP_872297.2 "A116S,C100S,H53L,P45L" "0,0,0,0" 90637 11774 sw7552;dbsnp11896 TTC9B_HUMAN;NP_689692.2 L223P 0 148014 12143 sw7553;dbsnp9482 GTL3B_HUMAN;NP_690878.2 V42I 0 256302 14505 sw7554;spmut929;dbsnp14038 I22R1_HUMAN;NP_067081.2 "A209S,G438E,K544E,L222P,L496I,L91F,M407V,M509K,N80S,P257L,R518G,S130P,S134P,V171F,V205I,V385I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58985 5499 sw7555 CD177_HUMAN "A348T,A3P,F379S,L119F,L251I,R323Q" "0,0,0,0,0,0" 57126 7822 sw7556 CL026_HUMAN Q249K 0 84190 5103 sw7557;sws863;dbsnp13644 MET13_HUMAN;NP_057019.3 "G172D,G365A,H43R,M105V,M359I,R296Q,R449W,R674W,R95W,V181G" "0,0,0,0,0,0,0,0,0,0" 51603 4082 sw7558;dbsnp15678 AN13C_HUMAN;NP_110443.3 "G138V,G97D,T413I,T413S" "0,0,0,0" 81573 5974 sw7559;dbsnp16267 ARFG1_HUMAN;NP_060679.1 "K278E,L200F,N29S,N323S,P305S,P344L,R122G,R288W,R341C,S128L,V184M" "0,0,0,0,0,0,0,0,0,0,0" 55738 8307 sw7560;spmut1948;dbsnp10884 SIR6_HUMAN;NP_057623.2 "A275T,E202K,S46N" "0,0,0" 51548 9541 sw7561;dbsnp12681 CELF5_HUMAN;NP_068757.2 "F65L,V258I,V325M,V343L" "0,0,0,0" 60680 6904 sw7562;dbsnp11063 USBP1_HUMAN;NP_114147.2 "A33T,A43V,A677V,D558Y,E372K,G167R,G75R,M439V,P146L,P17A,P475A,Q212R,R11P,R196H,R612C,R648Q,S260F,V525M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83878 4050 sw7563;dbsnp26060 LRC17_HUMAN;NP_001026862.1 "F331C,G187A,K119E,L220M,M86I,N31K,N99D,P309T,R184Q,R184W,T95I,V435I" "0,0,0,0,0,0,0,0,0,0,0,0" 10234 7742 sw7564;dbsnp14246 CA065_HUMAN;NP_689823.2 "A42T,D511H,E473K,G329D,R25P,R300P,R331W,R380L,R470W,R615C,S603G,V195A,V413M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 164127 4868 sw7565;dbsnp26098;dbsnp26099 ZN655_HUMAN;NP_612503.1;NP_001009960.1 "A416V,C466G,E135K,E203K,E327G,E412K,E52D,P134L,R149G,S12T,S343P,S393L,V73E,Y268H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79027 6200 sw7566;dbsnp28771;hgmd0613_2233 CD2A2_HUMAN;NP_478102.2 "G106R,G116D,P17S" "0,0,0" 1029 13605 sw7567;dbsnp7567 NPW_HUMAN;NP_001092926.2 "D149A,E100Q,P88S" "0,0,0" 283869 13619 sw7568;dbsnp10839 KI3L3_HUMAN;NP_703144.2 "A348P,E373D,G231D,H321N,H321Y,N290T,N56K,R149S,R152H,R166C,R166S,R52H,R77W,V168I,V324A,V324D,W346C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115653 7486 sw7569;sws865;dbsnp5133 KC1AL_HUMAN;NP_660204.2 "A257T,D42E,D84G,E177K,G40S,G80V,K230N,L92V,M204V,P220L,Q222P,R170S,R21W,S5G,V334L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 122011 9310 sw756;sws84;dbsnp18578;dbsnp18580 MYO1B_HUMAN;NP_001123630.1;NP_001155291.1 "A982S,E643K,E969K,H791R,L696S,R628Q,S683T,T1035A,V254M,Y976C" "0,0,1,0,0,0,0,0,0,0" 4430 1598 sw7570;dbsnp13099 EMC1_HUMAN;NP_055862.1 "A750T,L295S,P240L,R404W,R621C,S345T,S347N,S596L,T309M,T390M,V708I" "0,0,0,0,0,0,0,0,0,0,0" 23065 2135 sw7571;dbsnp5829 CN178_HUMAN;NP_777603.1 "G61D,H26Y,P107S" "0,0,0" 283579 14379 sw7572;dbsnp17738 HORM2_HUMAN;NP_689723.1 "A2T,G261D,N305D,V20L" "0,0,0,0" 150280 10710 sw7573;dbsnp9501 EFCB3_HUMAN;NP_775774.1 "D26N,G341R,M364I,N135S,P272A,P272T,R395S,R426K,R428K,S370A,S370F,Y181C,Y338C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 146779 6848 sw7574;dbsnp14785 LRC52_HUMAN;NP_001005214.2 "A257T,D209E,G161S,G289R,L106F,N134K,Q302K,R277C,R297Q" "0,0,0,0,0,0,0,0,0" 440699 10578 sw7575;dbsnp26483 RN148_HUMAN;NP_932351.1 "C110Y,F221L,N64T,T147M" "0,0,0,0" 378925 7994 sw7576;dbsnp29959 ZN645_HUMAN;NP_689790.1 "A251V,D166E,I180N,I243T,I33F,I33N,K49N,P401L,Q312P,Q367L,R122G,R154H,R403W,S287F,V117L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158506 6834 sw7577;sws866;dbsnp5012 AMER2_HUMAN;NP_689917.2 "A288T,A485E,I659M,K670N,L378I,L378V,S537L,T434A,T568I,T578M" "0,0,0,0,0,0,0,0,0,0" 219287 4359 sw7579;dbsnp5230 F216B_HUMAN;NP_872314.1 "R134C,T113I" "0,0" 144809 14101 sw757;dbsnp17579 PM34_HUMAN;NP_006349.1 "H98R,I207V,L230M,M299V,M50V,Q256R,R191W,R248W,V211I" "0,0,0,0,0,0,0,0,0" 10478 10707 sw7580;dbsnp13281 TC1D1_HUMAN;NP_689878.2 "E49D,L143I" "0,0" 200132 13373 sw7581;dbsnp10906 ZN283_HUMAN;NP_862828.1 "C14R,C638R,C638Y,I52L,K354N,L32P,R629H,R646I,T314I" "0,0,0,0,0,0,0,0,0" 284349 4279 sw7582;dbsnp11735 ZN676_HUMAN;NP_001001411.2 "A373D,A373G,C342W,E96K,E96Q,G27A,G27E,G27V,G369E,G529R,H215Y,I302F,I302L,I302V,K295N,K475R,M66K,M66R,M66T,Q114H,S290C,S290F,S290Y,S292W,S515N,T267N,Y163C,Y163F,Y163S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 163223 1203 sw7583;dbsnp26112 P1L12_HUMAN;NP_872401.3 "A3S,G122A,G188E,P144S,P21T,Q64E,T59S" "0,0,0,0,0,0,0" 285877 10956 sw7584;dbsnp19087 DNJ5G_HUMAN;NP_775921.1 "E182K,G27S,H51R,V4G" "0,0,0,0" 285126 13186 sw7585;dbsnp20457 EFHB_HUMAN;NP_653316.3 "A550E,A677S,G271C,G526D,G540D,G99V,I5T,K557Q,M580K,P269S,P501L,P509A,P534S,Q346R,Q663P,R168I,R361Q,R685Q,R733Q,R760Q,R826W,T258A,T382I,T771I,V331I,Y309C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 151651 3015 sw7587;dbsnp24326 ADGB_HUMAN;NP_078970.3 "A1166T,A816S,E395D,E604D,F233Y,H1632R,H253R,H555R,I310T,I772T,K1081N,K299R,R1620Q,R1620W,R848H,S1124L,S315A,T1056I,T1637A,T610I,V1150I,V1495L,V312M,V741I,V891I,W847R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79747 672 sw7589;dbsnp23104 ANR31_HUMAN;NP_001157915.1 "A1598T,C599Y,D1570N,D1609E,D421N,D702N,E1029G,H1160R,I1351V,I1605V,I645V,I913V,K806E,M1517T,N1110H,N192I,N431S,N565S,N664H,P1477L,P265R,P437L,P518L,P609R,Q1825E,R1296Q,R1777K,R433K,R484W,R602H,R758G,S312T,S347T,T1566R,T173A,T173I,T229I,V678A,V821I,Y1688D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256006 507 sw7590;dbsnp18103 CB061_HUMAN;NP_775920.1 "D16E,E62G,F117L,L17M,P123R,Q31R,R160C,T59A,V112L" "0,0,0,0,0,0,0,0,0" 285051 11958 sw7591;sws868;dbsnp7699 PDILT_HUMAN;NP_777584.1 "A26T,A552T,A79V,D446N,F323L,G529E,G52D,G52V,H68Y,I133S,I31S,K107E,K73E,L272F,L475R,L504F,L66V,P415S,R214G,R233L,R364H,R459Q,R527K,S535L,T60S,V146I,V177I,V217I,V401I,V447I,V506F,V562M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 204474 5353 sw7592;dbsnp9113 CNTD1_HUMAN;NP_775749.2 "G303V,G308V,G3R,L240P,P237H,R176Q,T145P,T188M,T22I" "0,0,0,0,0,0,0,0,0" 124817 10146 sw7593;dbsnp8561;dbsnp8562;dbsnp8563 TMM99_HUMAN;NP_001182316.1;NP_660317.2;NP_001182315.1 "I4M,L95R,S66C,T28I,Y79H" "0,0,0,0,0" 147184 11745 sw7594;dbsnp11624;dbsnp11625;dbsnp11627 ZN611_HUMAN;NP_112234.3;NP_001154971.1;NP_001154972.1 "C40F,C652F,E105D,E340G,H585R,K235E,K461N,L19P,L331I,M226L,N234I,N429D,P15A,P188S,P252I,P252L,P252T,R199K,R23H,R27Q,R314H,R3H,R605H,R632C,S44A,S635L,S649C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81856 2403 sw7595;dbsnp18107 TSYL6_HUMAN;NP_001003937.2 "A264V,A37V,A60V,E385K,E96D,G109S,H8Y,K295N,L394P,M1V,P116L,P51L,R136S,R246C,S6I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388951 7812 sw7597;dbsnp26239 CG031_HUMAN;NP_620166.3 "A158T,A249T,C359Y,E13K,G124R,G387C,H300R,H503Y,I146V,L380F,L526I,L542P,M88V,N518D,P143Q,P238Q,P317L,R156C,R556C,R86C,T187S,T197S,T40A,T417A,Y82C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 136895 5268 sw7598;dbsnp24451 FRMD1_HUMAN;NP_079195.3 "A189T,A2V,A303T,A326P,C313Y,C37W,G150R,G423R,H202R,H383Q,L491Q,N85K,Q456E,R228Q,R274C,R274H,R333H,R437C,R509H,S374G,V261M,V417M,V467M,Y310H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79981 5856 sw7599;dbsnp11734 ZN614_HUMAN;NP_079316.2 "E375Q,E459D,G160E,G82R,H115L,H223R,I152V,I568V,N94S,Q74K,T68I,V101M,V415I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 80110 4947 sw759;dbsnp20973;dbsnp20974 HYAL3_HUMAN;NP_001186958.1;NP_003540.2 "A258T,A314T,H113Y,H49P,I305T,I347M,R141H,R178H,R219H,V316M" "0,0,0,0,0,0,0,0,0,0" 8372 8232 sw75;dbsnp26138 KLRG2_HUMAN;NP_940910.1 "A311V,A364T,E45K,G339A,G375S,K152T" "0,0,0,0,0,0" 346689 8400 sw7600;dbsnp24383 M21D1_HUMAN;NP_612450.2 "A167P,A167V,A17G,A48E,E422K,F433L,H437R,L239P,P261H,S393C,T35N,Y483F" "0,0,0,0,0,0,0,0,0,0,0,0" 115004 6259 sw7601;dbsnp23534 ZN366_HUMAN;NP_689838.1 "A574T,A655T,A662G,A739G,E143G,K20E,L112F,L582Q,P117L,P182A,P26S,P51L,Q612L,S361N,T96I,V150I,V269F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 167465 3665 sw7602;dbsnp3540 DDX51_HUMAN;NP_778236.2 "A322V,E134V,G573S,P123R,P249L,Q175K,Q295R,Q406K,Q604R,Q652K,R337G,R41Q,R615K,S260N,S313F,T193I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 317781 4413 sw7603;dbsnp6831 F169B_HUMAN;NP_872368.2 "E129V,S115P" "0,0" 283777 13134 sw7605;dbsnp27707 NKAI3_HUMAN;NP_775959.1 V140I 0 286183 12782 sw7606;dbsnp19268;hgmd0613_2303 ZN513_HUMAN;NP_653232.3 "A97V,C289S,C339R,P232S,P513L,R250Q,R293Q,V261M" "0,0,1,0,0,0,0,0" 130557 5975 sw7607;dbsnp9574;dbsnp9575 CE112_HUMAN;NP_659473.2;NP_001186094.1 "A364G,A401V,A78V,D282H,E49K,E550D,E709K,I694V,K551E,K892T,M726I,Q336E,R587C,R587G,R656Q,R845W,V662A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 201134 2307 sw7608;dbsnp21971 YIPF7_HUMAN;NP_872398.2 "A54T,C242G,G208D,P113T" "0,0,0,0" 285525 11272 sw7609;dbsnp6823 CO054_HUMAN;NP_997328.1 "E77K,I43V,P15H,P62L,R147S,R158T,T59M" "0,0,0,0,0,0,0" 400360 13308 sw760;dbsnp17020 CU002_HUMAN;NP_004919.1 "A255T,E169K,G153S,P193L,Q236R,R117H,R212K,R225Q,S208L,T150I,T182I,V58L" "0,0,0,0,0,0,0,0,0,0,0,0" 755 11780 sw7611;dbsnp11243 ZN615_HUMAN;NP_940882.3 "F166L,F689S,G396E,H198Y,N154S,Q195R,Q615E,R34Q,R476Q,R560C,R727K,T129M,T360I,T365I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 284370 2356 sw7612 CD032_HUMAN P46Q 0 132720 14216 sw7613;dbsnp26757 NAT16_HUMAN;NP_940973.2 "F63S,R257C" "0,0" 375607 9223 sw7614;dbsnp9688 ENDOV_HUMAN;NP_775898.2 "D201N,H141Y,K114R,L124R,R112Q,R231Q,V29I" "0,0,0,0,0,0,0" 284131 11233 sw7615;hgmd0613_2333 AR7EP_HUMAN T180P 0 120534 11703 sw7616;dbsnp29900 ZCHC5_HUMAN;NP_689907.1 "A142T,E152K,E413K,F182L,I426V,L446F,P117S,P89Q,P99L,Q174H,R121W,R438C" "0,0,0,0,0,0,0,0,0,0,0,0" 203430 7106 sw7617;dbsnp26525;hgmd0613_2258 BMPER_HUMAN;NP_597725.1 "G194S,M158I,M484T,N74D,P222S,P370L,P487L,P85L,R555W,S414C,T570P,V363F,V363I" "0,0,0,0,0,1,0,0,0,0,0,0,0" 168667 4217 sw7618;dbsnp13086 GBP7_HUMAN;NP_997281.2 "G45D,G610R,G618R,L185P,L559P,M368I,M55I,P86H,Q231R,R291W,R577Q,S376T,S570L,S638N,T149A,T14I,T70I,V39L,W178C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 388646 4696 sw7619;dbsnp9384 TM105_HUMAN;NP_848615.1 "A20G,G90E,R122W,R44Q,R62W,S107L" "0,0,0,0,0,0" 284186 14258 sw761;dbsnp2662;dbsnp2663;dbsnp2664 G6PT1_HUMAN;NP_001458.1;NP_001157749.1;NP_001157752.1 "A148V,A367T,A373D,C176R,C183R,G149E,G150R,G20D,G339C,G339D,G376S,G50E,G50R,G68R,G88D,H301P,I278N,I331V,L229P,L85P,N198I,N27K,P153L,P191L,Q133P,R28C,R28H,R300C,R300H,S54R,S55R,S81F,V235L,W118R,W246R,Y24H" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,1,1,0,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1" 2542 7578 sw7620;dbsnp24991;hgmd0613_709 PLPL1_HUMAN;NP_001139189.2 "A187T,A231T,A448V,E110K,E249K,E288G,K526N,L389P,L443I,P423H,S329P,S522P,T128M,T362A,T490M,V328A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 285848 6100 sw7621;dbsnp27693 VA0D2_HUMAN;NP_689778.1 "D12H,E295K,F163I,G272R,H270R,K275E,N306K,V203I,V292M" "0,0,0,0,0,0,0,0,0" 245972 9657 sw7622;dbsnp6977 CO056_HUMAN;NP_001034994.1 "I160T,P119S,P151R" "0,0,0" 644809 13696 sw7623;dbsnp18358;dbsnp18359;dbsnp18360;dbsnp18361 AMER3_HUMAN;NP_689911.2;NP_001098663.1;NP_001098664.1;NP_001098665.1 "A178G,A599V,A694T,E180K,E689K,G33R,G788S,G807D,L395F,L434V,P433S,R196Q,R796H,S340P,V313M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 205147 2821 sw7624;dbsnp23566 PRLD2_HUMAN;NP_892005.1 "N99S,V62M" "0,0" 153768 13187 sw7625;dbsnp9283 ANKF1_HUMAN;NP_694960.2 "A366S,D729N,F559V,I21K,I443T,I498V,M141I,Q342L,R405Q,R541Q,S226N,T73M,V445I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 162282 3497 sw7626;dbsnp23126 CE120_HUMAN;NP_694955.2 "E777K,H963Q,I903V,K371R,L602V,L708V,L712F,P369S,Q879H,R260H,R646C,R646G,R815H,R883C,R947H,S728G,T562A,V495A,V936I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 153241 2154 sw7628;dbsnp4434;dbsnp4435;dbsnp4436 LRTM2_HUMAN;NP_001157397.1;NP_001034118.1;NP_001157398.1 "A89T,D161N,G56S,K79R,L182M,V320I" "0,0,0,0,0,0" 654429 9194 sw7629;dbsnp3267 CL029_HUMAN;NP_001009894.2 "D324H,P23L,V238L" "0,0,0" 91298 10268 sw762;dbsnp14856 ANGL7_HUMAN;NP_066969.1 "E51D,K192Q,K345R,P341Q,Q175H,R140H,S30T,T119M,V56A" "0,0,0,0,0,0,0,0,0" 10218 9760 sw7630;dbsnp2605 ANR42_HUMAN;NP_872409.2 "A190V,A355G,L104R,N198D,Q218K,T191M" "0,0,0,0,0,0" 338699 8817 sw7631;dbsnp23405 JMY_HUMAN;NP_689618.4 "A146S,A224V,A592V,A62V,D952N,G151D,H720R,M364L,P824L,Q244H,S121T,Y362D" "0,0,0,0,0,0,0,0,0,0,0,0" 133746 2151 sw7632;sws870 IGS22_HUMAN V414I 0 283284 1114 sw7633;dbsnp30250;dbsnp30251;dbsnp30252;dbsnp30253 F133A_HUMAN;NP_001164582.1;NP_001164581.1;NP_775969.1;NP_001164580.1 "E67K,S115R" "0,0" 286499 11945 sw7634;dbsnp23511;dbsnp23512;dbsnp23513 ZN454_HUMAN;NP_001171561.1;NP_872400.2;NP_001171560.1 "C152R,C152Y,C82S,D166A,K68N,P78L,V141E" "0,0,0,0,0,0,0" 285676 4254 sw7635;dbsnp27813 CH031_HUMAN;NP_775958.1 "L39P,P70T,R92Q" "0,0,0" 286122 14217 sw7636;dbsnp28877 MUT7_HUMAN;NP_060290.3 "A110V,A122S,A160T,A502V,A556T,C545Y,P55T,P626L,R17C,R20Q,R220Q,R268Q,R653C,R787C,R810Q,V336M,V482L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54932 2730 sw7638;dbsnp11653;dbsnp11654 ZN565_HUMAN;NP_001035939.1;NP_689690.3 "A207T,C443F,G112V,H213N,I188T,K174R,Q128P,R160G,S104N" "0,0,0,0,0,0,0,0,0" 147929 4279 sw7639 CH079_HUMAN "Q18H,S111T" "0,0" 57604 7509 sw763;dbsnp10486;dbsnp10487;dbsnp10488;dbsnp10489 ZF161_HUMAN;NP_003400.2;NP_001137295.1;NP_001230633.1;NP_001230631.1 "E77G,Q139R" "0,0" 7541 7604 sw7640;dbsnp6078 ACOT4_HUMAN;NP_689544.3 "A187D,A189D,A189P,A189S,A398T,D201N,G180A,R118W,R57C,S2L,Y190C,Y190N" "0,0,0,0,0,0,0,0,0,0,0,0" 122970 6944 sw7641;dbsnp9172 TM102_HUMAN;NP_848613.1 "A110V,A202G,M149R,R76L,S214A,V150M" "0,0,0,0,0,0" 284114 6507 sw7642;dbsnp626 ASCC1_HUMAN;NP_001185728.1 "D238N,D34H,D34N,D80N,E219Q,E329D,I333V,N318S,R277S,S67T,V3A,Y332C,Y36C" "0,0,0,0,0,0,0,1,0,0,0,0,0" 51008 8581 sw7643;dbsnp1902;dbsnp1903;dbsnp1904;dbsnp1905;dbsnp1906;dbsnp1907;dbsnp1908 EIF1A_HUMAN;NP_001229415.1;NP_001229414.1;NP_001229413.1;NP_001229412.1;NP_115701.2;NP_001229410.1;NP_001229411.1 "D23N,R149C,R48C,S159N,T120A,V93M" "0,0,0,0,0,0" 84285 13620 sw7644;dbsnp29130 CI163_HUMAN;NP_689784.1 "L165V,L5P" "0,0" 158055 12899 sw7646;dbsnp28420 SCAI_HUMAN;NP_001138349.1 A37T 0 286205 4810 sw7647;dbsnp27497 SNX31_HUMAN;NP_689841.3 "A207D,C277W,D428G,D73H,G43C,K169E,L164F,Q309R,R154Q,R166W,R267W,R50W,S418P,V213M,Y63F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 169166 7768 sw7648;dbsnp11246 KRI1_HUMAN;NP_075384.3 "A324T,A490T,A490V,C597Y,D222E,D463N,E185A,E272K,E355Q,E386K,G144R,I367S,K167E,L451P,R194C,R329H,R342W,R699Q,S315L,S322G,S628R,S709P,T5A,V279L,V327M,W587R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65095 3985 sw7649 TAC2N_HUMAN "K151T,S172N" "0,0" 123036 6838 sw7650;sws871;dbsnp22299 TRIML_HUMAN;NP_848651.2 "A230T,C31S,E109K,E132K,E242K,E91Q,G96R,I229V,T100A,T265I,V400I" "0,0,0,0,0,0,0,0,0,0,0" 339976 7239 sw7651 WSDU1_HUMAN "H223D,K215T,R320S" "0,0,0" 151525 7079 sw7652;dbsnp18720 ANR53_HUMAN;NP_001108588.1 "A105G,A202T,A71T,H354R,H431L,L153I,L523P,M243T,M500T,R349H,R349L,R486W,R78H,R87H,Y110D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79998 6129 sw7653;dbsnp20761 TOPZ1_HUMAN;NP_001138502.1 "A1231V,A711V,C43R,E285K,F1015S,F988S,I1243V,K1098R,K796E,L565S,L927P,M738V,N1241S,P673A,P88Q,Q1352R,Q417R,Q483R,R468W,R748L,S408F,T1318I,T626M,T774P,V196I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 375337 647 sw7654 GG6L2_HUMAN "E64G,N54H,R235P,R43G,W191R" "0,0,0,0,0" 283685 4587 sw7655 DAAF3_HUMAN "A278T,D365N,L61P" "0,0,1" 352909 5044 sw7656;dbsnp5848 F181A_HUMAN;NP_612353.3 "A125S,A28T,A315V,G41E,L162M,R116Q,R119W,T30S,V267L" "0,0,0,0,0,0,0,0,0" 90050 9556 sw7657;dbsnp10853;dbsnp10854;dbsnp10856 ZN610_HUMAN;NP_001154897.1;NP_001154898.1;NP_775801.2 "A131S,E292K,H174R,H174Y,H278Y,K267R,K328R,L359I,N115H,Q460H,R216P,R23H,R271C,R298I,R447Q,R457H,S114N,S15L,S357L,T368I,V104M,Y204H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162963 4814 sw7659;dbsnp6444 FSIP1_HUMAN;NP_689810.3 "C402R,D324N,D92A,E374G,E54Q,G528A,G544D,K109R,K277E,L411F,L507P,M360V,M470I,N64D,P541A,P561L,R354H,S35L,T45N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 161835 5396 sw7660;dbsnp10460 LMBL4_HUMAN;NP_775735.2 "G489S,G618D,H450Y,I474T,I583V,N268I,S123N" "0,0,0,0,0,0,0" 91133 3362 sw7661;dbsnp28926 WDR31_HUMAN;NP_001012361.1 "C257S,I203M,L293S,N94K,P113S,Q221H,Q311R,R218Q,V23M,V68M" "0,0,0,0,0,0,0,0,0,0" 114987 9255 sw7662;dbsnp4241 CCD63_HUMAN;NP_689804.1 "A132T,A220S,A27V,A280V,D359E,D373N,D511N,I214M,I481L,K332N,L212S,L310M,L513M,P444L,Q197R,R179Q,R309W,R465H,R544L,V516M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 160762 5636 sw7663;sws872;dbsnp26105 IQUB_HUMAN;NP_849149.3 "A23V,A446V,A682V,D691N,E196K,E62G,K119Q,M668I,P147S,Q235R,R420C,R638Q,R735C,R735P,T525A,V126M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 154865 3280 sw7664;dbsnp22206 TTC29_HUMAN;NP_114162.2 "A276T,G314R,H140Y,L94P,P23L,S455C" "0,0,0,0,0,0" 83894 7107 sw7665;dbsnp4058 CL050_HUMAN;NP_689802.1 "E111D,E124K,G155V,K186N,K403T,L148S,P151A,P270T,Q306R,R248Q,R322H,R327Q,T381I,W292R,Y334C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 160419 8292 sw7666;dbsnp5081 SPERT_HUMAN;NP_689932.1 "E429K,K329E,L400P,P311L,R183S,R209G,R251W,R70H" "0,0,0,0,0,0,0,0" 220082 7627 sw7667;dbsnp27810 CNBD1_HUMAN;NP_775809.1 "D432E,D64N,E422D,F159I,M1T,M257V,N94D,Q69K,Y332C" "0,0,0,0,0,0,0,0,0" 168975 7839 sw7668;dbsnp10910 CS045_HUMAN;NP_940936.2 "C9W,D256G,E454K,F404L,G231R,G29R,G484S,K365R,L500P,L96P,M372V,P14R,P221R,P497S,R466K,R486W,R72C,T244A,V493A,W94R,Y396N,Y434N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374877 6561 sw7669;dbsnp23346 POC5_HUMAN;NP_001092741.1 "A429V,A446T,E82D,H36R,I85T,P113S,S236F,S380F" "0,0,0,0,0,0,0,0" 134359 5486 sw7670;dbsnp9342;dbsnp9343 MARHA_HUMAN;NP_689811.2;NP_001094345.1 "A540V,C309Y,C662Y,D14N,E124K,E742K,F319S,G241E,G587S,G616A,G678S,H351R,H429Y,K242T,M477T,N190K,N416S,P155L,P81S,Q783E,R306C,R47C,S123N,S206L,S493L,T560A,T560I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162333 3155 sw7671;dbsnp11615 THAP8_HUMAN;NP_689871.1 "K112R,K32N,P157S,R185Q,R189W,R70H,T156I,T156N,T269A" "0,0,0,0,0,0,0,0,0" 199745 11397 sw7672;dbsnp2403 A16L2_HUMAN;NP_203746.1 "C319S,L418P,Q70R,R220W,R343G,R343H" "0,0,0,0,0,0" 89849 4927 sw7673;dbsnp6746 CO053_HUMAN;NP_997327.1 "A39V,E2G,L3V,P81A,P81T,R131H" "0,0,0,0,0,0" 400359 13374 sw7676 CA180_HUMAN F96V 0 439927 14356 sw7677;dbsnp11845 ZN579_HUMAN;NP_689813.2 "A161V,A530S,E353D,S529T" "0,0,0,0" 163033 5654 sw7678;dbsnp11005 ANKL1_HUMAN;NP_689576.4 "A219T,A31T,A341T,A428T,A544V,A557D,A71V,C175W,C317Y,E268Q,G250R,H355P,H537R,H592Q,L184W,L503V,L524V,L94Q,P160S,P465L,Q435R,R354W,R415W,R482C,R494Q,R614G,R614Q,S470L,S535C,T223P,T311P,V222I,V447M,V533I,V542M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126549 4970 sw7679;dbsnp11933 ZSCA4_HUMAN;NP_689890.1 "E284D,E387K,E387Q,F263S" "0,0,0,0" 201516 7892 sw767;dbsnp10304 ATP9B_HUMAN;NP_940933.3 "A1044V,A184T,A513D,A513V,A571T,A593T,D504N,D813G,E636Q,G91R,I347L,M732L,Q206L,Q226K,R108Q,R204H,R411Q,R561Q,R682P,R76T,S39G,T796N,V1040I,V644I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374868 1564 sw7680;dbsnp20517 ZBT38_HUMAN;NP_001073881.2 "A809T,D904H,D904N,E211D,G441R,H943L,I808F,P260L,P300A,S319A,T615M,V962M" "0,0,0,0,0,0,0,0,0,0,0,0" 253461 1430 sw7683;sws874;dbsnp13908 CA172_HUMAN;NP_689578.2 "E190G,G383D,K189R,P18L,P67L,Q100R,R101H,R107Q,R107W,R145W,R319H,R87Q,T205A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 126695 8625 sw7684;dbsnp18303 SMYD1_HUMAN;NP_938015.1 "E337K,E476K,F372L,G393D,H405Q,I32T,K418R,Q164P,Q299H,R148L,R320C,R333Q,R37W,R398Q,R398W,R441W,R58S,V396M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150572 6839 sw7685;sws875;dbsnp8033 MLKL_HUMAN;NP_689862.1 "D100E,D100G,E156V,E19K,I445L,L320R,M169L,M1V,Q236R,R146Q,R17Q,R306C,R421H,R82S,S132P,S52T,T364M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 197259 7181 sw7686;dbsnp25294 F184A_HUMAN;NP_078857.5 "A422T,D599N,E77D,F1112Y,H841L,K243R,K957E,Q174H,R196Q,R728W,S972L,V177G" "0,0,0,0,0,0,0,0,0,0,0,0" 79632 1586 sw7687;sws876 AT11C_HUMAN C114W 0 286410 1445 sw7688;dbsnp22986 ZFP62_HUMAN;NP_001166109.1 "D46N,E200Q,E558Q,G567A,I358V,L96M,M34I,R118H,R168H,R637S,R698K,R841Q,T444N,T861I,Y281C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 643836 1203 sw7689;dbsnp15475 SYT14_HUMAN;NP_694994.2 "A134T,G138E,G294D,G439D,R352H,R68G,S133L,V34L" "0,0,0,1,0,0,0,0" 255928 4931 sw768;dbsnp13480 CD5L_HUMAN;NP_005885.1 "A59V,D117E,E38D,P15R,P219S,Q324K,R307C,V264I,V305I" "0,0,0,0,0,0,0,0,0" 922 9729 sw7690;dbsnp6768 UN13C_HUMAN;NP_001074003.1 "A466T,D1698H,D304E,D713N,D863G,G609S,K31E,L1708I,L1955F,L456F,R171H,R2011S,S942L,V1102I,V2196A,V885A,Y760N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 440279 335 sw7691;dbsnp22356 SPAT5_HUMAN;NP_660208.2 "C27S,D213N,D277V,D829Y,E640Q,G299V,I256T,I256V,K349R,R655Q,R879C,S673Y,V123L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 166378 2649 sw7692 CO037_HUMAN V62A 0 283687 14241 sw7693;dbsnp14133 GLIS1_HUMAN;NP_671726.2 "A187G,A82V,D423N,D589G,F157L,G50S,G549S,H378Y,L156P,N603S,P430L,P58S,R119Q,R532Q,R554W,T110A,V343I,Y240C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148979 4912 sw7694;dbsnp612 NHLC2_HUMAN;NP_940916.2 "A285T,A608V,D185N,D372G,D655H,E453G,E562K,F462S,I679V,L238V,L584P,N471S,P404S,Q40R,T383S,V314I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374354 3821 sw7695;dbsnp26245 AVL9_HUMAN;NP_055875.1 "C257R,C257S,H231Y,M413T,N255K,P319S,R439Q,R482K,R601Q,R81S,T425A" "0,0,0,0,0,0,0,0,0,0,0" 23080 4605 sw7696;dbsnp14386 DRAXI_HUMAN;NP_940947.3 "G222R,G245D,G299D,K258E,L37F,R212Q,R322Q,T284S" "0,0,0,0,0,0,0,0" 374946 9684 sw7697;dbsnp2213;dbsnp2214;dbsnp2215 S43A3_HUMAN;NP_060081.1;NP_955361.1;NP_054815.2 "A359V,F327L,G121A,I490T,P53L,R210Q,R277W,R481H,W292R" "0,0,0,0,0,0,0,0,0" 29015 6822 sw7698;dbsnp28697;dbsnp28698 GOLM1_HUMAN;NP_808800.1;NP_057632.2 "G181V,G370E,H217R,N256S,Q322H,R133S,R60K,S246A,S307L,T235I,T44A,V138I,V250A,Y351C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51280 8563 sw7699;spmut2075 SUMF2_HUMAN D51E 0 25870 9485 sw769;dbsnp6476 S28A2_HUMAN;NP_004203.2 "A481S,E172D,E385K,E515Q,F355S,G23W,G509E,H73Q,L12P,L163W,L462F,M479T,M612T,P22L,Q456E,Q8H,R142H,R60W,S245T,S75R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9153 4500 sw76;dbsnp26631 PRS37_HUMAN;NP_001008271.2 "A11T,A95T,D74V,F188L,K104R,P96S,Q84H,T119P,T13A" "0,0,0,0,0,0,0,0,0" 136242 12221 sw77 CC14C_HUMAN "I296L,P238S" "0,0" 168448 5779 sw7700;dbsnp2528 SIDT2_HUMAN;NP_001035545.1 "A644S,L344M,M297I,M807T,N165S,R147W,R235H,R388H,R678W,R710C,S184L,T631M,V10M,V132M,V636I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51092 3023 sw7702;dbsnp21437 PGLT1_HUMAN;NP_689518.1 "F150S,K201R,K75R,P229T,R226Q,S371P" "0,0,0,0,0,0" 56983 8754 sw7703 TM178_HUMAN L107V 0 130733 10933 sw7704;dbsnp23311 PCYXL_HUMAN;NP_076933.3 "A222V,A278V,A316T,A5P,E390D,R104H,R431S,T433M" "0,0,0,0,0,0,0,0" 78991 6761 sw7705;sws877;dbsnp18882 MFSD9_HUMAN;NP_116107.3 "A129S,A376T,A426T,D158G,F54L,G170R,G188V,G5D,G5V,I288T,N131S,P441A,R255H,R313H,V334M,W220R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84804 7129 sw7707;dbsnp1924 AQP11_HUMAN;NP_766627.1 "A35S,G102S,M107T,Q145H,Q145P" "0,0,0,0,0" 282679 11457 sw7708 CK072_HUMAN P22T 0 100505621 11889 sw770;dbsnp14831 OR2T1_HUMAN;NP_112166.1 "H25R,I127V,I195T,M310V,P183L,R222Q,R222W,R363T,S203C,T308S" "0,0,0,0,0,0,0,0,0,0" 26696 9213 sw7710;dbsnp20764;hgmd0613_1752 POC1A_HUMAN;NP_056241.3 "A204T,G79S,H196Y,P50L,Q348H,R177W,R262W,R56C,S28G,T191A,T282M,T362M,V216M,V353M,V85L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25886 7046 sw7711;dbsnp11701 TM145_HUMAN;NP_775904.2 "L256M,P15L,P463A,P463T,P464S,S157F,S467F" "0,0,0,0,0,0,0" 284339 6787 sw7713;dbsnp28743 PPAC3_HUMAN;NP_116117.3 "D54E,G141V,L267V,M112V,R9H,T174M" "0,0,0,0,0,0" 84814 11458 sw7714 SYT8_HUMAN "C120R,F129I,H17Q" "0,0,0" 90019 8564 sw7715;dbsnp23475 S38A9_HUMAN;NP_775785.2 "E94K,H236R,I483V,Q358H,R335H,R9K,S182T,S208P,S440P" "0,0,0,0,0,0,0,0,0" 153129 5667 sw7716;dbsnp12884 SCPDL_HUMAN;NP_057086.2 "A89T,G226V,G418R,I183V,I235V,I79T,P7L,R239Q,R261H" "0,0,0,0,0,0,0,0,0" 51097 7962 sw7717;dbsnp3781 CLC1A_HUMAN;NP_057595.2 "A185T,C161S,G26A,K207E,P272S,R234S,R254H" "0,0,0,0,0,0,0" 51267 11273 sw7719;dbsnp22917;dbsnp22918 RELL2_HUMAN;NP_776189.3;NP_001123501.1 "G196R,G197W,H134Y,L133I,P217T,Q283E,R177H,S128P,S154T" "0,0,0,0,0,0,0,0,0" 285613 10795 sw7720;dbsnp12016 ZN114_HUMAN;NP_705836.1 "A218S,A272T,D233G,H346R,H99N,K115E,L195R,R244Q,T201I,V207A" "0,0,0,0,0,0,0,0,0,0" 163071 8239 sw7721;sws879;dbsnp18024 RN149_HUMAN;NP_775918.2 "D356E,I158M,K244R,L344F,N139S,R13C,R394Q,S9G,V326I" "0,0,0,0,0,0,0,0,0" 284996 8582 sw7722;dbsnp18632 F134A_HUMAN;NP_077269.3 "D526N,E174D,E485V,I317L,L372P,N413S,P419Q,R374H,S417A,T410M,V336I" "0,0,0,0,0,0,0,0,0,0,0" 79137 5945 sw7723;sws880;dbsnp22014 NOA1_HUMAN;NP_115689.1 "A153S,A23V,E326D,G154A,G213A,G49R,I392V,K450R,K680E,P601L,P682S,R307H,R307L,R644Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84273 4091 sw7724;dbsnp7532 NETO2_HUMAN;NP_060562.3 "I35T,N261K,S456T" "0,0,0" 81831 6090 sw7725;dbsnp16256 CT151_HUMAN;NP_543023.2 "A37T,A407D,A408T,A437T,D348N,D74N,E572K,E582K,E607K,G110R,L637R,N115K,P163L,P549R,R126Q,R135Q,R514S,R51W,R614Q,R614W,R62Q,S519C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140893 4436 sw7726;dbsnp3705 NECP1_HUMAN;NP_056324.2 "D224N,S122C,S88F,T84M" "0,0,0,0" 25977 11367 sw7727;sws881;dbsnp21670 CAMKV_HUMAN;NP_076951.2 "E279D,G60S,P472L,T438I,Y491C" "0,0,0,0,0" 79012 6638 sw7728;spmut885;dbsnp18009 HJURP_HUMAN;NP_060880.3 "D519N,E568D,E723G,E76K,G692R,H368R,P459L,R199G,R300S,R349H,S295C,S508F,S548T,S549C,S691F,T4A,T539I,V188M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55355 3627 sw772;sws89;dbsnp30046 PRIC3_HUMAN;NP_006141.2 "E555K,P377L,R175H,R296H,R306C,R343C,R71Q,S527G,S550C" "0,0,0,0,0,0,0,0,0" 4007 4968 sw7730;spmut1289;dbsnp21658 MTMRE_HUMAN;NP_001070993.1 "D173E,P531A,R336Q,R643Q,V465M,Y462C" "0,0,1,0,0,1" 64419 4588 sw7731;dbsnp7768 NF2IP_HUMAN;NP_116204.3 "A341V,R33W,T211M" "0,0,0" 84901 8172 sw7732;dbsnp7673;dbsnp7674 CHST4_HUMAN;NP_005760.1;NP_001159867.1 "H361Q,H386L,H77Q,M89I,R118Q,R289Q,R360C,R42H,R52H" "0,0,0,0,0,0,0,0,0" 10164 8359 sw7733;spmut498;dbsnp26056 DGLB_HUMAN;NP_631918.3 "A103V,A237V,A517V,A656T,I596T,I643V,L456V,P589S,Q664R,R436G,R568C,T223I,T545K,T637N,T84R,V659I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221955 4350 sw7735;dbsnp1390 GLBL3_HUMAN;NP_001073876.2 "D202N,G449S,R163P,V474M,V532A,W53C" "0,0,0,0,0,0" 112937 4557 sw7736;dbsnp581 ZN485_HUMAN;NP_660355.2 "A252T,G106E,H204R,H404R,R210G,R22W,S103P" "0,0,0,0,0,0,0" 220992 7743 sw7737;dbsnp9552 MOT11_HUMAN;NP_699188.1 "D127G,G419R,P443T,R228H,V113I,V282M" "0,0,0,0,0,0" 162515 7182 sw7738;dbsnp3369 GALT6_HUMAN;NP_009141.2 "A115E,A309T,A75T,K138N,K50R,P175Q,R105W,R320Q,S32N,V312I,V423I" "0,0,0,0,0,0,0,0,0,0,0" 11226 4758 sw773;dbsnp3617 NKG2F_HUMAN;NP_038459.1 "I29S,N104S" "0,0" 8302 11767 sw7740;dbsnp16349 APCDL_HUMAN;NP_699191.1 "C30R,C30Y,D434Y,G422R,H279N,P271L,Q244H,R261C,R324Q,R391Q,R54H,R83Q,S471L,T62I,V330L,Y80H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 164284 6639 sw7741;dbsnp5783 KCNH5_HUMAN;NP_647479.2 "A246S,A657G,A745T,D556N,E772G,F448L,G789C,I366M,I527F,K824E,N830S,P884L,T172R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 27133 2149 sw7742;dbsnp1467 DYHC2_HUMAN;NP_001368.2 "F209I,L3762V,R1221K,R2205H,T302P" "1,1,0,1,0" 79659 64 sw7743;dbsnp7600 PDPR_HUMAN;NP_060460.4 "A189T,D103E,I206V,K531E,N662K,Q42E,R427C,R5W,R810C,S536T,T29A,V375L,Y109H,Y110H,Y640F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55066 2718 sw7744 ZBT44_HUMAN K185E 0 29068 5546 sw7745;dbsnp10592 FBX15_HUMAN;NP_001136430.1 "A330D,H266L,I415S,I499V,I502V,L244V,L288V,R373C,Y496H" "0,0,0,0,0,0,0,0,0" 201456 6467 sw7747;dbsnp29344 SMRP1_HUMAN;NP_115985.2 "A21V,P233Q,R53Q,R6C,W110R,W37L,Y213H" "0,0,0,0,0,0,0" 84688 11647 sw7748;dbsnp850 CLRN3_HUMAN;NP_689524.1 "E158K,F75I,G172E,I192V,L186P,N46I,P71Q,S61G,T127M,T174N,T194I,V140F" "0,0,0,0,0,0,0,0,0,0,0,0" 119467 12413 sw7749;dbsnp6556 ARRD4_HUMAN;NP_899232.2 "E217K,P347S,Q139H,R391W,S358P,T235M,T79A" "0,0,0,0,0,0,0" 91947 8203 sw774;dbsnp27978 EXTL3_HUMAN;NP_001431.1 "A550V,L706P,N566S,R100S,R418Q,V442L" "0,0,0,0,0,0" 2137 2500 sw7750;dbsnp20686 K1407_HUMAN;NP_065868.1 "A227V,A415T,A864V,D167G,D187E,E234Q,E373K,E683Q,E696D,E918K,H84N,K30R,K30T,L3P,P546L,Q735H,R214I,R328Q,R374Q,R374W,R398Q,R869S,R896Q,T218I,T218P,T425R,Y806D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57577 2404 sw7752;dbsnp7948 KREM2_HUMAN;NP_757384.1 "A408P,C354Y,G407E,P187R" "0,0,0,0" 79412 7363 sw7753;dbsnp14295 NNRE_HUMAN;NP_658985.2 "A266T,E64A,E75K,T281I,V19L,V68L,V68M" "0,0,0,0,0,0,0" 128240 11142 sw7754;dbsnp26377 GLT11_HUMAN;NP_071370.2 "A18V,D197Y,D597N,E409G,E88D,G586S,H172R,L182V,L255V,P151S,P477S,P50L,Q577R,R263H,R266G,R499H,R58H,V376A,V495L,V575A,V66L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63917 5042 sw7755;dbsnp19154 CC150_HUMAN;NP_001074008.1 "A398T,C358Y,E156K,E427G,K818Q,R589H,S625T,T952A" "0,0,0,0,0,0,0,0" 284992 1707 sw7756;dbsnp9306 SMG8_HUMAN;NP_060619.4 "A16V,A274S,D621E,D87Y,G24R,P27A,P280L,P773L,R356K,S386N,T608I,T945I,V5M,Y135C,Y890H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55181 2142 sw7757;dbsnp5738 CN045_HUMAN;NP_079333.2 "D230V,G439R,K496E,K68N,L423P,M337V,M74L,R183K,R58Q,T258N" "0,0,0,0,0,0,0,0,0,0" 80127 6150 sw7758;dbsnp5851 LR16B_HUMAN;NP_612369.3 "A129T,A253T,A414V,A422T,D1180N,D379G,G1161V,K416R,L1022M,P413L,P873A,Q1319R,R1000C,R1000H,R1062W,R1129C,R1312W,R1359W,R729Q,R882Q,S1040L,S21R,T861I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90668 1029 sw7759 LIPB2_HUMAN R658G 0 8495 2731 sw775;dbsnp26293 ORC5_HUMAN;NP_002544.1 "D194G,G37R,H331R,K343I,K52N,R166C,R70S,T422M,V300L" "0,0,0,0,0,0,0,0,0" 5001 7852 sw7760;dbsnp11388 LS14A_HUMAN;NP_001107565.1 "G440E,M290V,N249S,R238Q,R448Q,S103P" "0,0,0,0,0,0" 26065 7347 sw7761;dbsnp20664 CC020_HUMAN;NP_115513.4 "A176T,A298T,A689V,D65N,E874K,F582L,G249R,G36D,G42D,I226T,I407V,I559V,L422V,M309I,M309V,N453S,Q205R,R522W,R581W,R680H,R814Q,S230Y,T15I,V695M,V88A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84077 2595 sw7762;dbsnp26257 GIMA8_HUMAN;NP_783161.1 "C594R,E109K,E504K,F556L,G257S,G632R,I301T,K150E,L16P,L186F,R135G,R516C,S5G,T376M,T557K,V250I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 155038 4422 sw7763;dbsnp6042 PNMA1_HUMAN;NP_006020.4 "M54V,Q117H,R215P,S243A" "0,0,0,0" 9240 9586 sw7764 HTR7A_HUMAN A38V 0 727957 695 sw7765 BANK1_HUMAN C650R 0 55024 3313 sw7767 CC168_HUMAN "E1879A,L1382P" "0,0" 643677 7 sw7768;dbsnp16384 PEPL1_HUMAN;NP_078939.3 "A235T,K303R,L513V,N193S,P162L,V290I" "0,0,0,0,0,0" 79716 6238 sw7769;sws883;dbsnp19117 EHBP1_HUMAN;NP_056067.2 "D590V,D913Y,F303L,H628R,K755Q,L988V,M1159T,N268Y,P404A,R645H,R863W,R999C,R999H,S659N,T694S,T985I,V74I,Y768C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23301 1333 sw7770;dbsnp18225 CBPC5_HUMAN;NP_068603.4 "A648V,E26D,G202R,G649D,G649S,G800E,G867V,H689P,N370S,N535S,P176L,P529S,P795L,R696K,R792Q,R840H,V144M,V695I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60509 2688 sw7771;dbsnp661 WDR96_HUMAN;NP_079421.5 "A738T,A835S,C191Y,D1529N,D249Y,E1363D,E1540G,E342Q,G98E,H1254Q,I393T,I951T,K741Q,L1542V,L595S,L616F,M1352V,M863T,N280H,N355D,R1044G,R1264W,R1312H,R1477Q,R1477W,R1530C,R571K,R677Q,R954C,R954H,S296L,S564F,T400I,V1061I,V1100M,V1303M,V197M,V310A,V382F,V480I,V634I,V667I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80217 673 sw7772;dbsnp5079 RCBT1_HUMAN;NP_060661.3 "A24V,D198E,E69D,M141V,T500I" "0,0,0,0,0" 55213 5821 sw7773;dbsnp11835 ZN439_HUMAN;NP_689475.1 "A450V,A474G,C331F,H320Y,K249E,L228F,L427S,M1V,P6S,R315I" "0,0,0,0,0,0,0,0,0,0" 90594 3684 sw7774;sws884;dbsnp11240;dbsnp11241 ZN540_HUMAN;NP_001165696.1;NP_689819.1 "A447D,C220Y,D53V,H205R,I596V,L57V,V66M,Y579C" "0,0,0,0,0,0,0,0" 163255 2996 sw7775;dbsnp13374 SIA7C_HUMAN;NP_694541.2 "A228T,F267L,I179V,L223I,L268I,Q210R,R159C,S216N" "0,0,0,0,0,0,0,0" 256435 10756 sw7776 SMC1B_HUMAN "F473V,L1050M,R758Q,S1008A" "0,0,0,0" 27127 1322 sw7777;dbsnp7669 TNR6A_HUMAN;NP_055309.2 "A1948T,A592T,A828T,E1268K,E689G,F761C,G1904E,G1915S,G290S,H1244R,I1085V,I767M,K872N,L932P,L971V,M1334V,M493I,M559V,N1020H,N1489S,N1601D,N1640S,N185K,N611S,N799D,N870S,P312S,P788S,Q100P,Q1112H,S795Y,T1666M,T1711N,T287A,T502S,V884I,Y1681C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27327 445 sw7778;dbsnp40 ZN248_HUMAN;NP_066383.1 "A198G,D86G,D86V,K218E,K218R,N197S" "0,0,0,0,0,0" 57209 3138 sw7779;dbsnp20002 TT21A_HUMAN;NP_665698.2 "A427E,A427V,A987V,D1218N,E1291K,E293K,L1073P,R1055L,R1127Q,R1134Q,R1316K,R290K,R622W,R719H,R719Q,R91Q,S1160R,V108L,V256M,V30L,Y333C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 199223 1132 sw7780;dbsnp18310 PSD4_HUMAN;NP_036587.2 "A338S,A338T,C316R,C365Y,D1026N,E339K,E47K,E98V,G269A,G309S,G349R,G83R,H10R,I658V,K1011R,P235L,P318A,P407T,P456R,P58S,Q780K,R1051Q,R148Q,R594C,R597H,R637Q,S211A,S233P,T295A,V518A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23550 1870 sw7782;dbsnp24429 LY65B_HUMAN;NP_067044.2 "D102N,G152A,L166P,L188V,M1V,R176C,R71G,R80C,S131Y,S37C,V70I" "0,0,0,0,0,0,0,0,0,0,0" 58496 12942 sw7783;dbsnp5135 ARHL1_HUMAN;NP_612439.2 "A344T,A7V,D78V,G41R,L294R,L324R,M61T,R256K,T163I,V55M" "0,0,0,0,0,0,0,0,0,0" 113622 9557 sw7784;dbsnp14148 TMM52_HUMAN;NP_848640.1 "A62V,D108E,D158N,M141K,M141T,M141V,S117C" "0,0,0,0,0,0,0" 339456 12765 sw7785;dbsnp30027 BEND2_HUMAN;NP_699177.2 "E196K,F154L,G580V,I169V,N284T,P113L,Q198H,Q773R,R596H,R745K,S183I,S188F,S521N,S649P,S95G,T377K,V261G,Y406C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139105 3220 sw7786 CE025_HUMAN "H772R,K463R,S221F,S636F" "0,0,0,0" 375484 2760 sw7787;dbsnp8891 TM104_HUMAN;NP_060198.3 "A178T,A207T,A2E,A439T,A452V,L202V,N141S,R101Q,R106Q,R197Q,R204Q,R344H,V399M,V436I,V58M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54868 6726 sw7788;dbsnp27573 RGS22_HUMAN;NP_056483.3 "D101N,E1118G,H943Y,I360V,K4Q,N1243D,P949S,P94L,R1108G,R397M" "0,0,0,0,0,0,0,0,0,0" 26166 1245 sw7789 NSUN7_HUMAN "S308A,T622A" "0,0" 79730 3893 sw778;hgmd0613_1228 NDUS5_HUMAN P96S 1 4725 14571 sw7790;dbsnp22967 SETD9_HUMAN;NP_714917.2 "A25T,C178W,G137V,G3S,K209E,S76T" "0,0,0,0,0,0" 133383 10879 sw7791;sws885;dbsnp28753 SGK71_HUMAN;NP_714921.3 "G535C,I119T,K473E,L433V,L679R,P629L,Q313H,Q33R,R285Q,R568Q,S438R,S634G,T513P,V434L,W529R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 169436 4270 sw7792;dbsnp996 FA13C_HUMAN;NP_937858.2 "A59V,E403Q,E558K,H30Q,K97R,P147S,P269L,P376L,P499S,P65S,P82H,R337C,S212N,S295N,T443I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220965 5333 sw7793;dbsnp927 CPEB3_HUMAN;NP_055727.3 "D413E,D522E,M391L,N131S,R324W" "0,0,0,0,0" 22849 1968 sw7794;dbsnp19918 CHDH_HUMAN;NP_060867.2 "A33T,E40A,L78R,N441S" "0,0,0,0" 55349 5210 sw7795;dbsnp11941 HIPK4_HUMAN;NP_653286.2 "A106T,A106V,A271G,A386T,D430H,D498N,D542N,D544A,E398D,G421S,P535S,R302Q,R481C,S406R,T304I,T304N,T381M,V171M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147746 4959 sw7796;spmut28;dbsnp25014 ABCF1_HUMAN;NP_001020262.1 "A598G,D513E,D762H,D821A,K215E,K305M,N198D,P599L,R396Q,R829W,S166P" "0,0,0,0,0,0,0,0,0,0,0" 23 2928 sw7797;dbsnp24793;dbsnp24794;dbsnp24795 POPD1_HUMAN;NP_001186492.1;NP_671488.1;NP_009004.2 "D304N,I15V,L281P,M127I,M94V,N192D,Q148R,R129Q,R129W,R136H" "0,0,0,0,0,0,0,0,0,0" 11149 9418 sw7798;dbsnp18138 FBX36_HUMAN;NP_777559.3 "C142W,F35C,H58R,H58Y,L86F,P51S,Y82C" "0,0,0,0,0,0,0" 130888 13207 sw7799;dbsnp11751 CS018_HUMAN;NP_689687.1 "A206V,E136A,E200Q,H208Y,I119F,P145S,P165A,T80M" "0,0,0,0,0,0,0,0" 147685 12636 sw7800;dbsnp28842 GLIS3_HUMAN;NP_689842.3 "A322V,C521F,D357E,E360D,G158A,G376R,G749R,G86S,I366V,L6M,L741F,P11A,P127A,P183L,P221S,P301Q,P578L,Q63E,R544C,S143Y,S269P,S559C,S727L,V110F,V3F,V542M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 169792 2434 sw7801;dbsnp4151 ACRBP_HUMAN;NP_115878.2 "F542L,K212R,P19S,Q181R,Q26R,R455G,S128T,S92C,T336A,V176M" "0,0,0,0,0,0,0,0,0,0" 84519 5946 sw7802;dbsnp1702 CTSR1_HUMAN;NP_444282.3 "A308V,E56K,F728S,G133S,G170S,G244R,G316D,G49S,G88C,G88S,Q77H,R230C,R230H,R332Q,R602Q,T730P,V353I,V50M,V652I,W424R,Y154H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117144 3360 sw7803;dbsnp26488 FXL13_HUMAN;NP_659469.3 "A129P,C231S,D148G,D692G,F145S,G313A,G656V,I535V,I74M,L547S,P271L,R220H,R30H,R377H,R491W,R695C,R95W,S493I,V273I,V36I,Y565C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 222235 3741 sw7804;dbsnp28833 TTC16_HUMAN;NP_659402.1 "A115T,A872S,D608N,E317K,E588G,E73K,E849K,F36V,F414V,G406S,G458A,H34P,I749M,I749T,K236N,K246Q,K29R,M405T,P518A,R119Q,R134C,R210Q,R297W,R343S,R450Q,R527P,R532C,S568G,S658P,V315L,Y809C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158248 2752 sw7805;dbsnp23769 CC112_HUMAN;NP_689762.2 "A246T,D259V,D372N,E301Q,E354G,E88D,H32L,K325R,K341N,L428V,Q234R,S144N" "0,0,0,0,0,0,0,0,0,0,0,0" 153733 6163 sw7806;dbsnp4096 FA71C_HUMAN;NP_699195.1 "A112E,A112V,M71V,R30G,R65P,R90Q,S15R,V177A,V196A,V74I" "0,0,0,0,0,0,0,0,0,0" 196472 5208 sw7807;dbsnp26307 CG057_HUMAN;NP_001093629.1 "A74S,D149N,M152T,P124L,P201H" "0,0,0,0,0" 136288 10979 sw7808;sws887;dbsnp17601 FA83F_HUMAN;NP_612444.2 "A427V,D252G,E477K,G353S,G364S,G365D,P283R,P390L,P453S,R189W,R245S,R334C,R416Q,R429P,R436G,T214I,V182M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 113828 6669 sw7809;dbsnp6517 MNS1_HUMAN;NP_060835.1 "C10Y,D386H,E199K,E426G,E429K,I216T,I245T,Q55P,R425H,Y244H" "0,0,0,0,0,0,0,0,0,0" 55329 6745 sw7810;dbsnp5853 NGDN_HUMAN;NP_001036100.1 "A2V,D10H,D149V,E23K,K308I,R221H,R306G,R306W,V15L" "0,0,0,0,0,0,0,0,0" 25983 10529 sw7812;dbsnp29666;dbsnp29667 FA46D_HUMAN;NP_001164045.1;NP_689843.1 "D185E,D185V,E95K,F111L,H45Y,I25V,I27V,K193E,L108P,N32Y,N94I,P34H,T16P,V67I,Y199C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 169966 7727 sw7813;dbsnp20007 CCD54_HUMAN;NP_115989.1 "A235T,G62R,I145N,I213T,K138R,L268I,M112L,P199L,R223H,R327P,R327Q,R38Q,S148F,V325I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84692 10196 sw7814 MCPH1_HUMAN "D314H,P828S,R171S,V761A" "0,0,0,0" 79648 3002 sw7815;dbsnp26598 ZN680_HUMAN;NP_848653.2 "A81P,D297A,D297G,D330G,E207D,E298D,E78A,G442D,N170S,N525D,S132F,Y406F" "0,0,0,0,0,0,0,0,0,0,0,0" 340252 1203 sw7816 SHCBP_HUMAN "M21T,M60R" "0,0" 79801 4351 sw7817;dbsnp4908 FA48A_HUMAN;NP_001014308.2 "F720C,K371R,M154T,M154V,P576R,S498P,T671A,T773M,V553L" "0,0,0,0,0,0,0,0,0" 55578 3370 sw7819;dbsnp25025 ARMC2_HUMAN;NP_115507.4 "A131S,D826G,E266K,H856D,I185V,I630V,M166T,N433D,Q52P,Q581R,R278C,R91H,T546M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84071 2790 sw781;dbsnp10093;dbsnp10094;dbsnp10097;dbsnp10098;dbsnp10099 MFS11_HUMAN;NP_001229464.1;NP_077287.1;NP_001229463.1;NP_001229462.1;NP_001229461.1 "K301M,S127L,S428F" "0,0,0" 79157 7605 sw7820;dbsnp44 PDZD8_HUMAN;NP_776152.1 "A482T,G42S,H803Q,I364L,I531V,I537V,N929T,P297L,P566L,P668S,R897Q,R993Q,T1064I,V806A,V809I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118987 1540 sw7822 CQ047_HUMAN "C546G,G461S,P88T" "0,0,0" 284083 5547 sw7823;dbsnp13322 KLDC9_HUMAN;NP_689579.3 "A282T,A84T,D142N,E35K,G249V,N288S,P306L,R79L,S171R" "0,0,0,0,0,0,0,0,0" 126823 9685 sw7824;dbsnp12197 ZN555_HUMAN;NP_690004.4 "H129Y,H194N,K50N,K515T,N107D,N117D,P137L,Y592C" "0,0,0,0,0,0,0,0" 148254 4815 sw7825;dbsnp14270 CA162_HUMAN;NP_777556.1 "G3S,T123K" "0,0" 128346 13816 sw7826;sws888;dbsnp14968 CA064_HUMAN;NP_849162.1 "G137R,L112F,R71Q,T109P" "0,0,0,0" 149563 13558 sw7827;spmut2227;dbsnp8605;dbsnp8606;dbsnp8607;dbsnp8608 TRPV1_HUMAN;NP_542436.2;NP_542437.2;NP_061197.4;NP_542435.2 "A401T,F589L,F591L,G460A,I585V,M315I,P91S,Q85R,T469I,T505A" "0,0,0,0,0,0,0,0,0,0" 7442 2967 sw7828;sws889;spmut47;dbsnp18876 ACV1C_HUMAN;NP_660302.2 "G216R,I195T,I299V,I355V,I482V,N150H,P121A,S231Y,V289M,V411A,V487I" "0,0,0,0,0,0,0,0,0,0,0" 130399 6788 sw782;spmut1694;dbsnp28108;hgmd0613_1482 RAD21_HUMAN;NP_006256.1 "A544V,D414E,G481R,L451R" "0,0,0,0" 5885 4783 sw7830;dbsnp2228 D108B_HUMAN;NP_001002035.1 "A9T,H45L,I27V,M14V,Q53R,R36G,R36W" "0,0,0,0,0,0,0" 245911 14863 sw7831;dbsnp30244 RGAG1_HUMAN;NP_065820.1 "A1017V,A1131V,A153T,A410S,A504T,G703E,H1381N,H1381Q,I50M,M1014R,M208T,M525L,M538V,M980L,P323L,P777S,P82R,P978L,R1013M,R1159Q,R1271Q,S812F,T499M,T590M,V1010M,V1353I,W1200R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57529 1002 sw7832;spmut1351;dbsnp17709 NFAM1_HUMAN;NP_666017.1 "G261A,H137Y,N187K,P248T,R225C" "0,0,0,0,0" 150372 11483 sw7833;dbsnp20111 CHSTD_HUMAN;NP_690849.1 "A126V,A271V,P146S,R317Q,S50R,S79G" "0,0,0,0,0,0" 166012 9876 sw7834;dbsnp8631;hgmd0613_2313 TRPV3_HUMAN;NP_659505.1 "A32G,A628T,D198N,G573C,G573S,I25V,L473F,L642P,M320V,M479L,M488I,N180K,R117G,R337C,R369W,T264M,T398I,T774I,V132A,V132M,V552M,W692G" "0,0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" 162514 3283 sw7835;dbsnp3731 DP13B_HUMAN;NP_060641.2 "A187V,A433V,D650N,E336K,E358D,G164R,H205R,I529V,K70R,N348D,R339H,R470C,V520L,Y48C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55198 3989 sw7836;sws890;dbsnp250 MYO3A_HUMAN;NP_059129.3 "A1032T,A1349P,A317P,A500V,A520V,A833S,D204N,D271N,D57A,E1010K,E1197K,E22D,H142Y,I1294V,I1489V,I348V,I51N,I610T,I610V,K1488E,N1177S,P1287T,P548H,Q1530L,R1013C,R1313S,R1548H,R319H,S599I,S956N,S956R,T1118A,T1284S,T1311S,T1417I,T178I,V1045M,V1137M,V1195A,V369I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 53904 717 sw7837 EXPH5_HUMAN "C1311R,D1240N,D777N,E137V,E1656K,G1663R,I1735F,L853P,M1147I,M512L,N1967D,N892Y,R118L,R19G,R328Q,S1236A,S676N,T1343A,V525F,V899A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23086 431 sw7838;dbsnp7318 IL27A_HUMAN;NP_663634.2 "D7N,L119P,R128L,S59A" "0,0,0,0" 246778 12053 sw7839;dbsnp20915;hgmd0613_2325 TMIE_HUMAN;NP_671729.2 "A35G,R81C,R84W,R92W,S69F" "0,1,1,1,0" 259236 13798 sw783;spmut72;dbsnp26284 AK1BA_HUMAN;NP_064695.3 "H111R,L79V,M286T,N313D,P223R,P87S,R251H,R269H,R41Q,V76I" "0,0,0,0,0,0,0,0,0,0" 57016 10233 sw7840;dbsnp16259 WFDC9_HUMAN;NP_671731.1 "I12T,M10T,N27T,R62C" "0,0,0,0" 259240 14764 sw7841;dbsnp13755 NAV1_HUMAN;NP_065176.3 "A1285T,A82T,D487N,E1301K,G1396S,H1290D,H525Y,H545Y,I1618T,K1434Q,M347T,N800S,P1429L,P983T,Q937H,S1080Y,S1235F,S1273L,S488N,S490I,T1053M,T711M,T919M,V1527I,V1583L,V904G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89796 505 sw7842;dbsnp22325 SPAT4_HUMAN;NP_653245.2 "F85V,H282R,Q60L,V265F,Y149C" "0,0,0,0,0" 132851 10757 sw7843;dbsnp18277 VATC2_HUMAN;NP_001034451.1 "E234Q,F361L,G308E,I168T,L357P,M264I,N143D,V330M,V44L,V75M" "0,0,0,0,0,0,0,0,0,0" 245973 8005 sw7844;dbsnp27918;hgmd0613_2336 VP37A_HUMAN;NP_689628.2 "A44D,I206F,I213V,K382N,L234I,S42C,T310I" "0,0,0,1,0,0,0" 137492 8644 sw7845;dbsnp22313;hgmd0613_2102 WDR19_HUMAN;NP_079408.3 "G1084S,I352V,L710S,L7P,R1178Q,S536T,V304I,V345G,V372I,V915L,Y901C,Y931S" "0,0,1,1,0,0,0,1,0,0,0,0" 57728 1078 sw7846;sws892;dbsnp26223 MLL3_HUMAN;NP_733751.2 "A1685S,A2223T,A3342S,A3723P,A3748T,A4709D,A779T,D1319H,D1450V,D2092V,D525A,E2834D,E672D,E864G,G313E,G315C,G315S,G845E,G908C,H4466Q,I323V,I4080T,I4084L,I455M,I4602V,I823N,I823T,L1565V,L2653P,L2653V,L291F,L3311F,L4219V,M1895V,M2244T,M3275V,N1385S,N1601S,N2830H,N3505D,N3695S,N567S,N567T,P1863A,P2412T,P2600A,P2616S,P3082L,P309S,P3289L,P3569S,P4273S,P468T,P673S,P860S,Q3051H,Q3051P,Q3478E,Q448H,R1095T,R1890Q,R1916G,R1986Q,R2497C,R2596Q,R380L,R4145H,R526P,R679K,R886H,R909K,S1724I,S1836N,S2025T,S3547P,S3588L,S3660L,S888T,S990G,T1636P,T2008A,T2156P,T316S,T61A,V1163L,V262A,V4644G,V700L,V919L,V920A,W858L,Y2131C,Y2218S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58508 36 sw7848;dbsnp26364 ZMIZ2_HUMAN;NP_113637.3 "G126S,G828R,L408F,T765M,V685M" "0,0,0,0,0" 83637 1832 sw7849;sws893 SYNE1_HUMAN "L4944M,S2030G" "0,0" 23345 2 sw7850;dbsnp9259 UBP32_HUMAN;NP_115971.2 "A1469G,D1330E,D54V,E218G,E793K,G1568R,G478S,H312R,H76Y,I1370S,I253L,Q1321R,R1240C,R1505H,R935W,S1017L,S673N,T1578I,V275I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84669 731 sw7851;dbsnp30651 T185A_HUMAN;NP_115897.1 "C243S,M179V,T77M" "0,0,0" 84548 9658 sw7852;sws894;dbsnp21884 BD1L1_HUMAN;NP_683692.2 "A1369G,A1640T,A1829V,A2087T,A2098V,D2840G,D642N,D784E,E1612K,E1992K,E2395K,E2405K,E289K,E788K,G1500E,G1566E,G2361S,G2448R,G969A,H2729R,H297R,I1209V,I2749T,K2981N,L2099V,L650I,M1120V,M56V,P1183A,P1282L,P2396L,P2508Q,Q1497R,Q1775P,R1074W,R2242Q,R2524H,R2945C,R3024H,S1050N,S1108T,S1313G,T1448A,T1515A,T1858S,T2511P,T429M,V1162I,V1645I,V1844A,V2399M,V2592L,V2944M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 259282 142 sw7853;sws895;dbsnp1761 ANKK1_HUMAN;NP_848605.1 "A239T,A640V,A696T,D280E,D4Y,E376K,E426K,E713K,G318R,G442R,G451R,H367Q,H490R,L366F,N653S,P276L,P596L,R122H,R185Q,R315C,R688C,S670G,T595I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 255239 3475 sw7854;sws896;dbsnp25284 ARI1B_HUMAN;NP_059989.2 "A1840T,A363V,A767T,D1851N,E1687G,E1723A,E652D,G1271E,G1303R,G1351S,G1716E,G246S,G396A,G572R,G856S,G953S,I560V,K1773R,K1898R,K1954R,L1197V,M1241V,M1288V,M1480V,M1486L,M1486T,M2192L,M429V,M521V,M531T,N1659S,N1800S,P1401A,P1411S,P794S,Q1249P,Q1466K,Q2163R,Q82H,Q876E,Q980L,R1506H,R2199H,S1321N,S1661F,S1869C,S497N,S802L,T1573M,V1092I,V1223A,V2103L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57492 315 sw7855;dbsnp5780;hgmd0613_2365 NCKX4_HUMAN;NP_705932.2 "A253G,A460T,A510V,A81V,F254L,G189R,I603V,K552Q,N378K,Q194P,R448H,R585Q,S362N,T78A,V158A,V158G,V219M,V613I,Y300C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 123041 4653 sw7857;dbsnp9213 ENASE_HUMAN;NP_001036038.1 "E731K,G416V,G562R,R124Q,R321H,R385Q,R555H,R659C,S397F,S596N,T623I" "0,0,0,0,0,0,0,0,0,0,0" 64772 3678 sw7858;dbsnp3375 RAI3_HUMAN;NP_003970.1 "A24G,A259S,A259T,C9F,D58G,E280K,G356D,I134V,L112P,R124Q,R339W,S118G,S92G,T182A,T315M,T82I,V255M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9052 9494 sw785;dbsnp29916 SSX5_HUMAN;NP_783729.1 "A129T,E188K,E19Q,I176V,K20N,K39N,N135D,Q184E,R140C,R140H,R140L,R72C,R90C,V168L,Y31H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6758 12355 sw7860;dbsnp27752 BHE22_HUMAN;NP_689627.1 "G225S,P360R,S28A" "0,0,0" 27319 8954 sw7862;dbsnp18532 B3GN7_HUMAN;NP_660279.1 V233I 0 93010 8565 sw7863;dbsnp20682;hgmd0613_1829 I17RD_HUMAN;NP_060033.3 "A608V,A642P,I329M,M549R,N503S,P293L,P566L,P566S,P569S,P670L,R203Q,T255M,T278I,V301M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54756 3708 sw7864;dbsnp20034 GP156_HUMAN;NP_694547.2 "A102T,C445F,C74F,E516D,E686D,G687R,H340R,L145F,R219W,R327C,R441W,R603W,R623W,R757C,R798H,S739C,T202I,T31I,V206M,V223A,Y393C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165829 3120 sw7865;dbsnp25161 MDGA1_HUMAN;NP_705691.1 "K654Q,K691N,L61P,T752P" "0,0,0,0" 266727 2004 sw7866;dbsnp5080 NBEA_HUMAN;NP_056493.3 "A1860V,A569P,I2501V,M181K,S1502G,T1213A,V2784F" "0,0,0,0,0,0,0" 26960 154 sw7867;dbsnp16213 BPIB6_HUMAN;NP_777557.1 "A176T,A342T,A349T,D193E,D71N,G21E,L373Q,M156V,N106D,P149T,R25Q,R296C,R296H,S347G,T16M,V97I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128859 7528 sw7868;dbsnp17482 BPIFC_HUMAN;NP_777592.1 "A283S,D260N,D359N,E218K,E479A,G395R,L214F,M381I,M49L,N113S,N247S,P262L,S166R,S177R,S451P,S86G,V269A,V299A,V302L,V98M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254240 6527 sw7869;dbsnp18754 CC148_HUMAN;NP_620158.3 "A42P,A501V,C257R,E305K,E522K,H295Q,K16Q,K329R,L214S,M157V,P206L,P26S,Q131R,Q290R,Q75P,Q75R,R488Q,R551H,S546A,Y307F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 130940 5257 sw786;sws90;spmut1022 KALRN_HUMAN S196L 0 8997 149 sw7870;dbsnp20635 I17RE_HUMAN;NP_705613.1 R479H 0 132014 4020 sw7871;dbsnp25944;dbsnp25945;dbsnp25946 STEA2_HUMAN;NP_001231873.1;NP_694544.2;NP_001035755.1 "A182S,D40Y,F17C,G214E,I405V,K159T,M475I,Q300R,R456Q,S221G,Y284C" "0,0,0,0,0,0,0,0,0,0,0" 261729 6703 sw7872;dbsnp19453 DNER_HUMAN;NP_620711.3 "A512T,A99G,C540W,D254E,D687N,M627V,N315T,N601I,P309L,P433L,R698Q,S217F,T142I,T142S,T172M,T259S,T415P,V268D,V648M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92737 3727 sw7873;dbsnp14736 BEST4_HUMAN;NP_695006.1 "A10V,C108S,Q331E,R402L,V433L,V61M,Y217S,Y62C" "0,0,0,0,0,0,0,0" 266675 4398 sw7874;dbsnp344 IPMK_HUMAN;NP_689416.1 "M349I,S229I,S27F,S299N,T28A,V381L" "0,0,0,0,0,0" 253430 8256 sw7875;spmut2130;dbsnp529 TET1_HUMAN;NP_085128.2 "A1837S,A1837T,A256V,A341V,A985S,C677S,C832Y,D139N,D1614G,D162G,D344E,E2034Q,E2093K,E995D,G318S,I1123M,K1019E,L166F,M1834K,N1018S,P1345L,P266A,Q51L,Q683E,R1159Q,R1333K,S1793N,S193T,S487L,S570G,S701N,T1421A,T257I,T321A,T87S,V1235L,V128F,V1808M,V435I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80312 365 sw7876;dbsnp27547 COMA1_HUMAN;NP_690848.1 "A1209V,A383V,A938D,D1112N,D500H,E292G,E336K,E528D,E736D,E790G,E950A,G1008R,I680T,K824E,L1018P,L1483H,L977F,M1296V,N1115S,P1000H,P1086A,P1570T,P1589T,P1620L,P541A,P541T,P562L,P610L,P703T,P763L,P869H,P981L,R1039C,R1079Q,R1079W,R1089K,R1173H,R352Q,R362Q,R568Q,R568W,R785Q,S320G,T117M,V519M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 169044 705 sw7877;dbsnp14925 DMBX1_HUMAN;NP_671725.1 "A205P,A297V,A43E,G290A,G290C,P203S,S253F" "0,0,0,0,0,0,0" 127343 8940 sw7878;dbsnp21110 MYRIP_HUMAN;NP_056275.2 "A312T,D154H,D400E,D509N,G602R,H323Q,H62N,K100R,L830F,P324L,P365L,P673S,P807S,R523W,R549Q,R570Q,S388T,V75I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25924 2837 sw7879;dbsnp6399 SEM6D_HUMAN;NP_705871.1 "A670S,G585S,G986A,H698R,N307S,P1016S,Q992E,R517H,R745Q,R762Q,R99Q,S478N,S969T,V251M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80031 1811 sw787;dbsnp24541 DHX16_HUMAN;NP_003578.2 "A463T,A792T,A801D,A801G,D13E,D51N,D566G,E316G,E619A,E619V,F437L,F969S,F969Y,G149E,G306R,K352E,K547R,L502F,L681P,L796M,L796V,N414D,P4A,P972R,P981L,Q349R,R122H,R132G,R132S,R576M,R576T,R868H,R956W,V644A,Y786C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8449 1934 sw7880;sws898;dbsnp20797 KBTB8_HUMAN;NP_115894.2 "C420R,F179L,F242L,I309T,I472L,K391N,L317V,P255L,R219G,V589A" "0,0,0,0,0,0,0,0,0,0" 84541 5123 sw7881;sws899;spmut2182;dbsnp21923 TNIP2_HUMAN;NP_077285.3 "A332T,A396V,Q249H,Q280R,R137Q,R155W,R15H,R211Q,R229C,R317Q,R345Q,R351Q,R73G,S381F,V142I" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0" 79155 7963 sw7882;dbsnp11512 VN1R2_HUMAN;NP_776255.2 "A329T,C38R,D157Y,G118R,H269R,I362F,L278F,N302K,P14A,R312T,S267C" "0,0,0,0,0,0,0,0,0,0,0" 317701 8685 sw7883;dbsnp12086 CADM4_HUMAN;NP_660339.1 "D98N,G209R,M344V,T225A,V120I,V340A,Y159H" "0,0,0,0,0,0,0" 199731 8833 sw7884;sws900;dbsnp3373 S2610_HUMAN;NP_597996.2 "A193T,A493V,A506V,D282E,G156E,G455S,K304N,L236W,L416R,L546V,L64V,M130T,N341K,P414L,P456L,P62S,R518W,S189F,S544N,V532E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65012 5637 sw7885;dbsnp13402 TRI58_HUMAN;NP_056246.3 "A210V,Q237R,R203Q,R409C,T211K,T211M,T374M,T454N,V322I,W3S,Y417C" "0,0,0,0,0,0,0,0,0,0,0" 25893 6900 sw7886;spmut856;dbsnp3557 HELB_HUMAN;NP_387467.2 "A1036T,A960V,D423N,D506G,E172K,E522D,F1013S,F676C,G55D,G631D,G959S,G973A,H717R,I648V,I65V,K615E,L189S,L191P,L267F,P966L,Q523P,R487H,R671C,R877C,S235T,S567L,T575A,T980I,V313I,V385A,Y346H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92797 1762 sw7887;dbsnp29873 PJA1_HUMAN;NP_660095.1 "A429T,D362N,E606D,F639L,L483F,R343H,R402Q,S389G,S432N,V139A" "0,0,0,0,0,0,0,0,0,0" 64219 4660 sw7888;hgmd0613_2373 CASC5_HUMAN "C2338Y,L1190V,R936G" "0,0,0" 57082 290 sw7889 LINES_HUMAN "A331V,E641D,I29V,I541V,R680S,S472T,V406M" "0,0,0,0,0,0,0" 55180 3545 sw788;dbsnp2775 SSA27_HUMAN;NP_006387.1 "L60I,P120S,R192H,R28L,R28Q,T21M" "0,0,0,0,0,0" 10534 12972 sw7890;dbsnp8968 RDM1_HUMAN;NP_663629.1 "C127W,H32R,K158E,P153L,Q77L,R143G,S13N,Y267F" "0,0,0,0,0,0,0,0" 201299 11203 sw7891;dbsnp10678 ELOA3_HUMAN;NP_663628.2 "A302G,E356A,E388G,L375P" "0,0,0,0" 162699 3585 sw7892;sws901;spmut1342;dbsnp20524 NEK11_HUMAN;NP_079076.3 "E451K,E488V,E606K,E629K,I263V,I455V,M339T,M548T,M568K,Q597K,R570C,S213L,S412P,T340M,V30M,V43L,V562A,Y123C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79858 4638 sw7893;dbsnp2239 OR5T1_HUMAN;NP_001004745.1 "H205Q,L94V,M270R,P60L,S164G,S280L,T258N,V95I,Y72C" "0,0,0,0,0,0,0,0,0" 390155 9451 sw7894;dbsnp14367 O2T33_HUMAN;NP_001004695.1 "A169V,A221S,A231G,A253G,G154R,G168S,G297A,G39S,G86R,H225L,H311Q,H48R,H51R,H51Y,I309L,I99F,L30P,M197R,M57I,M57T,M69V,R92H,S135R,S163I,S87N,T277S,V29L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391195 9213 sw7895;dbsnp14234 O2T12_HUMAN;NP_001004692.1 "A160V,A179T,A231G,A41S,A93T,F193S,G247V,G253A,H51R,H51Y,K296N,L12I,L149P,M144L,M197R,M69V,N87S,P103L,R301L,R55G,R55T,R92C,S146C,S39G,T104S,T143N,T19S,W49R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127064 9213 sw7896;dbsnp14177 OR2M7_HUMAN;NP_001004691.1 "A162V,C169Y,C178F,D191N,D271E,F35L,G229R,G306R,I215T,L13I,L143R,S36L,S93T,T57I,V205A,V211F,V281I,V78A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391196 9740 sw7897;dbsnp14150 O2AK2_HUMAN;NP_001004491.1 "A290T,G31D,L188F,L224P,R185S,R187W,R281C,R281H,R285W,S99N,V203M,V30A,V45F,V45I,Y117F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391191 10018 sw7898;dbsnp14219 OR2L3_HUMAN;NP_001004687.1 "A182T,A212G,F199L,H158Y,H226R,I39T,K271R,M139V,P78L,Q169R,S104L,S82P,T202A,V255F,V303L,Y217C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391192 9213 sw7899;dbsnp29595 O13H1_HUMAN;NP_001004486.1 "F62L,I184N,R298Q,S152P,T101M,T26M,Y266S" "0,0,0,0,0,0,0" 347468 10689 sw789;dbsnp11220 GMFG_HUMAN;NP_004868.1 "E122K,E136K,I33T,L14I,P62L,R40W,T15K" "0,0,0,0,0,0,0" 9535 14044 sw78;dbsnp26695 MBLC1_HUMAN;NP_981942.1 "A205T,G150C,H114N,P244A,P244T,P79H,S43C" "0,0,0,0,0,0,0" 255374 11559 sw7900;dbsnp11815 OR7G3_HUMAN;NP_001001958.1 "A231V,A237V,I240V,K2R,L301F,M29V,P25S,S64F,T57N,V247I" "0,0,0,0,0,0,0,0,0,0" 390883 10316 sw7901;dbsnp12260 OR2Z1_HUMAN;NP_001004699.1 "D84N,I101M,I158N,L135F,L250I,M1V,M260L,R138C,R24H,T192S,V113I,Y218C" "0,0,0,0,0,0,0,0,0,0,0,0" 284383 10552 sw7902;dbsnp11670 OR7D4_HUMAN;NP_001005191.1 "A279D,C139R,C139Y,C141Y,D52G,G142A,G227R,H131Q,L144P,L162P,L17F,L292M,M136I,P79L,R88W,S268F,S75C,S84N,T133M,T38M,T57S,Y200N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 125958 10316 sw7904;dbsnp11315 OR7G1_HUMAN;NP_001005192.2 "A156V,A274V,I260V,M59V,P129T,Q220P,R122H,S167F,S249F,V182I,V83A,W141C,Y252C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 125962 9806 sw7905;dbsnp11953 O10H4_HUMAN;NP_001004465.1 "A225D,C148W,F179L,H144R,I230T,I290V,N100K,R236W,R81L,S10C,S272N,T252M,T281A,V69I,Y254H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126541 10444 sw7906;dbsnp6394 OR4M2_HUMAN;NP_001004719.2 "A109V,A261P,A67G,C201G,D121N,F225L,F94L,F94Y,G96E,I200M,I76V,L115I,L211F,M239V,M252K,N236D,N5D,P263Q,Q138E,R186Q,R262H,R284C,R284H,S202C,T124A,T235S,V275L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390538 10502 sw7907;dbsnp5791 O5AU1_HUMAN;NP_001004731.1 "A104S,A170V,A176T,G198S,I25V,I299V,L117F,L78F,M169V,N274K,N93K,P234L,S194L,S290C,T185I,V335M,V80M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390445 9361 sw7908;dbsnp5790 O11G2_HUMAN;NP_001005503.1 "G49D,H22L,I99N,K128N,N12K,P15L,S45G,V116I,V183M,Y328H" "0,0,0,0,0,0,0,0,0,0" 390439 9791 sw7909;dbsnp5472 OR4E2_HUMAN;NP_001001912.1 "H56R,L237V,Q234R,S241L,V118M,V13L,V22M" "0,0,0,0,0,0,0" 26686 9711 sw790;dbsnp14079 MYPT2_HUMAN;NP_002472.2 "A168G,A639S,E510G,E656K,E943V,M276V,Q193R,R500Q,R800W,R804Q,R836K,R857K,T732M,V182I,Y241C,Y549C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4660 2173 sw7910;dbsnp5847 O10G2_HUMAN;NP_001005466.1 "A156T,A213T,A236T,A277V,F108L,H136R,I233R,K5N,L149F,L291R,L67F,M53V,P57L,P57Q,P98L,Q43R,R187P,R209G,R85L,R85W,T294I,V208I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26534 10110 sw7911;dbsnp5934 O10G3_HUMAN;NP_001005465.1 "A272T,D203A,E197Q,I280T,I78V,R166C,R166H,R235Q,R235W,R237Q,R262K,S73G,V248M,V251M,V49L,Y105C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26533 10110 sw7912;dbsnp5836 O11H6_HUMAN;NP_001004480.1 "C259R,G59E,I107T,I5V,L162P,L195F,L32V,M77K,Q42K,R146H,R311L,S7Y,T297R,V179F,V243L,Y236H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 122748 9791 sw7913;dbsnp5980 O11H4_HUMAN;NP_001004479.1 "A77P,D192H,F108L,K246N,P239S,R132G,R244Q,R303H,R321C,T301S,V19M,V59A" "0,0,0,0,0,0,0,0,0,0,0,0" 390442 9791 sw7914;dbsnp5701 OR4M1_HUMAN;NP_001005500.1 "A64T,E11K,E311K,G204D,G232D,H228L,I157T,I259T,I91K,L269V,L309W,L44F,N191S,Q24R,R122H,R122L,R139C,R262H,T116I,V208M,V279I,V279L,Y243C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 441670 9711 sw7915;dbsnp5700 OR4N2_HUMAN;NP_001004723.1 "A125T,A219G,E231K,E4K,F85I,F85L,I158T,I225M,I76T,K89T,L30R,M118R,M81T,N202S,P133S,P58A,R122H,R224H,R80Q,T276K,T7R,V135L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390429 10502 sw7916;dbsnp5932 OR4K2_HUMAN;NP_001005501.1 "A143V,D52N,F102L,G41S,H54L,K6E,K80E,N307I,T202K,T239N,V221A,V221F,V51A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390431 9711 sw7917;dbsnp5978 OR4K5_HUMAN;NP_001005483.1 "A77V,D2Y,H105P,I255T,I264F,I92V,N65K,Q159R,R319K,S117L,V259A,V281I,W260R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79317 9711 sw7918;dbsnp5709 OR4K1_HUMAN;NP_001004063.2 "A188S,C169S,D84V,L249H,M190I,M190K,N172S,R138Q,R304C,R304H,R89C,R89H,S263R,S74C,V184G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79544 9711 sw7919;dbsnp5812 OR4KE_HUMAN;NP_001004712.1 "I217V,L145R,M119V,P281L,Q310K,R21Q,R227T,V152A,V247A" "0,0,0,0,0,0,0,0,0" 122740 9711 sw791;dbsnp6670;dbsnp6671 PLIN1_HUMAN;NP_001138783.1;NP_002657.3 "A271V,A380V,C36F,E293K,I102V,I120V,K210E,L90P,P194A,P75L,R231L,R280W,S348L,T301M,T82I,V156L,V272M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5346 6253 sw792 BAI3_HUMAN N503S 0 577 800 sw7920;dbsnp4104 O10AD_HUMAN;NP_001004134.1 "E112K,F275V,G5S,L37F,M102K,N57K,R123H,R166Q,R170C,S177N,T9P,V8A,W198R,Y279H,Y61H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 121275 10471 sw7921;dbsnp4013 OR6C4_HUMAN;NP_001005494.1 "A153T,E109K,E109Q,I37V,L205F,M83T,M83V,N269I,P227S,Q141K,Q230K,S135N,S70F,T289S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341418 10547 sw7922;dbsnp4035 O10P1_HUMAN;NP_996782.1 "A83T,E197K,H172Q,I215F,M143V,P88L,R140W,R262Q,R273H,R64C,V200M,Y121H" "0,0,0,0,0,0,0,0,0,0,0,0" 121130 10579 sw7923;dbsnp4249 O10A7_HUMAN;NP_001005280.1 "C141R,D52E,F106L,G181C,G291S,G96S,L130F,L39F,L53P,L66V,M164I,M23I,R261G,T160I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 121364 9497 sw7924;dbsnp3991 OR9K2_HUMAN;NP_001005243.1 "A195T,E103A,G258V,K252N,M84T,P287H,R147C,R207H,R211G,R45C,T167I" "0,0,0,0,0,0,0,0,0,0,0" 441639 10019 sw7925;dbsnp2602 OR4D9_HUMAN;NP_001004711.1 "C254S,C51R,H228D,L305P,Q159R,Q25H,R304W,R64C,S75A,T192S,T219M,T89I,Y256C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390199 10502 sw7926;dbsnp2679 OR9Q2_HUMAN;NP_001005283.1 "C179R,G170E,M81L,P26S,V206I" "0,0,0,0,0" 219957 10553 sw7927;dbsnp1679 O52B6_HUMAN;NP_001005162.2 "A167T,H170R,L111H,L275I,L47P,T57A,V288I" "0,0,0,0,0,0,0" 340980 10020 sw7928;dbsnp1815 O52R1_HUMAN;NP_001005177.3 "E60K,F88L,I129T,I197V,K239I,L48F,L64F,L69P,M62T,N201Y,P287T,Q27H,R199H,R237H,R266S,S245A,V159A,Y283F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119695 10163 sw7929;dbsnp1565 O51D1_HUMAN;NP_001004751.1 "A112V,A146V,F75L,G165V,H194Q,I269T,I89V,K93T,L302P,N300S,P267T,Q183R,R135H,R244W,S87F,T281A,T291N,T57S,W236C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390038 10293 sw7930;dbsnp2489 O5AP2_HUMAN;NP_001002925.1 "A105T,D302E,I214L,Q106R,R128H,S236L,V83I" "0,0,0,0,0,0,0" 338675 9361 sw7931;dbsnp2216 O10W1_HUMAN;NP_997257.2 "C245S,D262Y,G164D,G290R,L85F,P120L,R227Q,R263Q,T90N,V292I" "0,0,0,0,0,0,0,0,0,0" 81341 10410 sw7932;dbsnp2111 OR5BH_HUMAN;NP_001005489.1 "G68D,I244T,I45T,L224F,L80I,N17S,P24L,R120H,R163H,R226S,S62C,V295M,Y257H,Y308C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219965 10554 sw7933;dbsnp2245 OR4B1_HUMAN;NP_001005470.1 "C63Y,I219V,T237N,T274K,T274M,T36M,V115M,V122M,V213M,V21M,V32M,V47I,Y285C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 119765 9203 sw7934;dbsnp1711 OR8J3_HUMAN;NP_001004064.1 "D269G,D271E,M1V,M258T,M315V,M39I,N57T,R138Q,T205K,T264I,V208F,V87I,Y123H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 81168 10503 sw7935;dbsnp2106 OR5T2_HUMAN;NP_001004746.1 "A186S,A195T,G135R,H309D,L238V,R214S,S21Y,S229F,T125M,T199I,T64I,V87L,Y112C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 219464 9451 sw7936;dbsnp2597 OR5T3_HUMAN;NP_001004747.1 "A146S,I190T,I255L,I255V,K314E,K340N,K36T,P32L,V113G,W84G" "0,0,0,0,0,0,0,0,0,0" 390154 9451 sw7937;dbsnp2475 OR8H1_HUMAN;NP_001005199.1 "E22V,F61L,G2S,H199Y,I46L,L114F,L221V,L63F,N154D,N89S,N89T,P182S,R130C,R50C,R50L,S214F,S216T,T180M,V23G,Y131H,Y217C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219469 10612 sw7938;dbsnp1796 OR8K1_HUMAN;NP_001002907.1 "A84T,D197E,F170L,I219T,L213F,L217F,M1T,M21V,M256T,N199I,P27T,T10M,V45G,V89I,Y258N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390157 9775 sw7939;dbsnp2263 OR8A1_HUMAN;NP_001005194.1 "A142D,K97E,P146A,S218L,T133R,T214R,T226M,T27A,T320M,V317M,V93I" "0,0,0,0,0,0,0,0,0,0,0" 390275 9775 sw793;dbsnp12018 KLK8_HUMAN;NP_009127.1 "D113N,V154I,V241I" "0,0,0" 11202 10762 sw7940;dbsnp1413 OR8B3_HUMAN;NP_001005467.1 "C212F,E268Q,H20R,L164F,M114I,M39T,S230Y,Y73F" "0,0,0,0,0,0,0,0" 390271 9775 sw7941;dbsnp2326 OR2D3_HUMAN;NP_001004684.1 "A199G,A316V,L200F,L82I,M300V,M75R,R155W,S164F,S228F,V55L,V55M,W165S" "0,0,0,0,0,0,0,0,0,0,0,0" 120775 10147 sw7942;dbsnp2115 O52L1_HUMAN;NP_001005173.2 "A255V,C140R,C161F,C161R,C161S,C161Y,D88N,K183T,P287T,S130L,W297R" "0,0,0,0,0,0,0,0,0,0,0" 338751 10163 sw7943;dbsnp2150 O52E4_HUMAN;NP_001005165.1 "F227L,F257L,F49L,H26N,I199V,I39M,I47V,P12H,R184M,R224K,R228H,R301Q,T139S,V176I,V282A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390081 10296 sw7944;dbsnp2300 O52N2_HUMAN;NP_001005174.1 "A121T,A66V,F240I,G46R,H264R,I159T,K238E,L157F,M228T,N273K,P60S,R172Q,R236H,S190F,S249A,T162N,V210M,V255G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390077 10296 sw7945 O52N4_HUMAN "L167R,N218I,T106I,W209G" "0,0,0,0" 390072 10296 sw7946;dbsnp2252 O56B1_HUMAN;NP_001005180.1 "C106R,G217R,I29T,I86V,L125V,L214F,L302F,L318F,N161H,P62A,R140C,R175H,R323S,S102N,S221N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 387748 10294 sw7947;dbsnp2227 OR4DB_HUMAN;NP_001004706.1 "A143G,F197L,I68N,L301R,R64C" "0,0,0,0,0" 219986 10555 sw7948;dbsnp1389 O10V1_HUMAN;NP_001005324.1 "A67E,F124Y,G3E,I259L,M25V,Q101L,Q123R,R187C,R187H,R235C,R235S,V117A,V93I,Y291H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390201 10410 sw7949;dbsnp2285 O5AN1_HUMAN;NP_001004729.1 "G162A,G223C,G3R,L289F,T247K" "0,0,0,0,0" 390195 10295 sw7950;dbsnp1719 OR5A2_HUMAN;NP_001001954.1 "F103L,G256E,I159T,M302R,P172L,S204T,Y165N" "0,0,0,0,0,0,0" 219981 10295 sw7951;dbsnp2183 OR5A1_HUMAN;NP_001004728.1 "D183N,G210R,H170Q,H59R,I52V,K306T,L29V,N242T,R125Q,R146C,R146H,S2F,T56I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 219982 9361 sw7952;dbsnp1718 OR4D6_HUMAN;NP_001004708.1 "D111A,D96G,E11Q,E309K,F102S,F13L,L164F,L237F,M224L,M263T,M267V,M59V,N203D,N291K,N65K,R21Q,R64W,S151T,S87L,V247M,V252M,V277I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219983 10555 sw7953;dbsnp1731 O52H1_HUMAN;NP_001005289.1 "A227V,A89T,C105F,C242R,G235C,H130R,I122V,L74R,M1I,M283T,P183T,R271H,R278H,S251F,T83A,V224I,V45A,V47I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390067 10020 sw7954;dbsnp1992 O52E2_HUMAN;NP_001005164.2 "A69T,A69V,F151S,G147D,G243D,G30S,H174R,I292V,M261T,M261V,N5D,N5S,R153S,R167W,R228H,R264C,R271H,R271L,V226A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119678 10020 sw7955;dbsnp2316 O51L1_HUMAN;NP_001004755.1 "A179S,A207V,A69S,F111L,G18V,H246Y,I106L,I281M,I281V,L187I,L217F,L222V,N241Y,R124C,R124H,R302C,R302P,S141I,T196I,V10A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119682 10474 sw7956;dbsnp1979 O51A4_HUMAN;NP_001005329.1 "C191Y,D123H,D72N,E59G,G18A,G45C,I273V,L156P,L282P,M187T,M67T,M70I,N167S,Q235E,Q299H,R264C,R264H,R267G,R311W,S218F,T288M,Y134N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401666 9861 sw7957;dbsnp1980 O51A2_HUMAN;NP_001004748.1 "C191Y,D72N,E235Q,G18A,G45C,G59E,K172Q,K289N,K307I,K52N,L16S,M120V,M288T,M67T,P255S,R166T,R264L,S167N,S218F,V116L,V261I,V275A,Y134N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 401667 10474 sw7958;dbsnp2223 O51S1_HUMAN;NP_001004758.1 "A93T,H280P,I57N,L123F,L178R,L216S,L264F,L311V,P101S,P261T,Q60E,R194C,R241G,T52S,V319A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119692 10322 sw7959;dbsnp2551 O51G2_HUMAN;NP_001005238.1 "A94E,C184R,E96Q,G204S,I34T,I53V,L106H,M197L,P165S,R58H,Y173C,Y40C" "0,0,0,0,0,0,0,0,0,0,0,0" 81282 9861 sw795;dbsnp18999 ADCY3_HUMAN;NP_004027.2 "A238T,A553V,M842I,N1000K,R249L,S107P,S17L,S511L,V110M" "0,0,0,0,0,0,0,0,0" 109 1568 sw7960;dbsnp1710 O51G1_HUMAN;NP_001005237.1 "E113K,G259V,I195T,K307R,M112V,M257I,Q303H,R11G,R124H,R236Q,R265H,R302C,S114L,V137I,V281A,V40I,Y125S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79324 10247 sw7961;dbsnp2350 O52B4_HUMAN;NP_001005161.2 "C236R,I106T,I216T,T139I" "0,0,0,0" 143496 10020 sw7962;dbsnp1374 O52K2_HUMAN;NP_001005172.2 "A101V,D193E,D193N,F309V,F89S,G18E,H275L,L229Q,Q300H,R124C,R153Q,R153W,R236H,R302C,R302H,R311G,S141P,T256P,W28R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119774 10163 sw7963;dbsnp1347 O52K1_HUMAN;NP_001005171.2 "A66V,F215L,I19S,I247V,I71T,L15S,L25P,Q52R,R153W,R167C,R302C,T136M" "0,0,0,0,0,0,0,0,0,0,0,0" 390036 10020 sw7964;dbsnp2003 O52M1_HUMAN;NP_001004137.1 "I116M,I258T,M1V,M229I,M67I,P131S,P170L,P32H,R124C,R153Q,R153W,R298H,S195N,S305R,S9L,T79P,V126M,V155L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119772 10472 sw7965;dbsnp1809 O52I1_HUMAN;NP_001005169.1 "A265V,D231N,K184E,L284P,L48I,M167I,P62T,Q238H,R190K,S213P,S80F,T41I,V197M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390037 9659 sw7966;dbsnp2187 OR5DG_HUMAN;NP_001005496.1 "A156T,A162E,A162T,A162V,C99R,E327G,I326F,I326V,L17W,M82T,S277F,T256S,T9I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390144 10197 sw7967;dbsnp2595 OR5L2_HUMAN;NP_001004739.1 "A300V,G108V,G306D,K236R,M45V,M81R,N298K,R141C,R141G,R141H,R141P,T153M,T216S,T254I,V192I,V59M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26338 9361 sw7968;dbsnp1361 OR5DI_HUMAN;NP_001001952.1 "A79S,F169I,H270R,L96I,N136D,R235H,R235L,T161M,V118M,Y36C" "0,0,0,0,0,0,0,0,0,0" 219438 10197 sw7969;dbsnp2019 OR5L1_HUMAN;NP_001004738.1 "H56Q,I192V,I309T,I46F,Q50H,R122C,R122H,R54W,S287P,V117M,V281M" "0,0,0,0,0,0,0,0,0,0,0" 219437 9361 sw796;dbsnp7710 K0513_HUMAN;NP_055547.1 "D13N,D40G,I191T,N75S,N81I,R100H,R202W,R229W,R271W,R353W,R71C" "0,0,0,0,0,0,0,0,0,0,0" 9764 8354 sw7970;dbsnp1360 OR5DE_HUMAN;NP_001004735.1 "A244T,D193N,G191S,G43E,H178R,H254R,L290P,M2V,Q102L,R124H,R236C,R236H,S249A,T272K,V111M,V32G,V38G,W243C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219436 10197 sw7971;dbsnp1362 OR5DD_HUMAN;NP_001001967.1 "A118T,C62Y,L17F,L45M,R124H,R236H,R236L,T114I,V36I" "0,0,0,0,0,0,0,0,0" 390142 10197 sw7972;dbsnp1714 O4A15_HUMAN;NP_001005275.1 "A287V,A325V,H30D,I202F,L329H,P26S,S252C,T304S,T307I,V100A,V100G,W177G" "0,0,0,0,0,0,0,0,0,0,0,0" 81328 9203 sw7973;dbsnp1456 OR4CG_HUMAN;NP_001004701.2 "A203T,C167W,C177F,C238R,C252R,D82G,E189D,K288R,K48T,L259P,L34W,R120H,S201C,S301R,S46T,S93R,T49A,T76A,V152M,V239I,V25L,V262I,V292M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219428 9203 sw7974;dbsnp2156 OR6M1_HUMAN;NP_001005325.1 "G94D,K194N,L61R,M1T,R224C,R224H,R231H,T158I,T276K" "0,0,0,0,0,0,0,0,0" 390261 10112 sw7975;dbsnp2260 OR8D4_HUMAN;NP_001005197.1 "A125S,C120Y,E296D,F102V,F200L,F205S,I48V,I92V,L283P,L55R,M136I,M250R,N206H,R122C,R133K,R227C,R298K,R53H,S239N,S44R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338662 9361 sw7976;dbsnp2181 OR6T1_HUMAN;NP_001005187.1 "A228D,I23T,I251V,I36T,N137T,R64W,S243L,T134N,T87M,V276I" "0,0,0,0,0,0,0,0,0,0" 219874 10323 sw7977;dbsnp2606 O10S1_HUMAN;NP_001004474.1 "A112V,A281T,C85S,G110S,G63S,I230T,K93R,L128P,N55S,P329Q,R136C,R241C,R241S,V309A,V309L,Y190H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219873 10110 sw7978;dbsnp1442 O10G4_HUMAN;NP_001004462.1 "A180T,A90T,A90V,A9V,D231E,D231N,G146C,G146R,G146S,G203E,K295Q,L24P,L30P,M134V,N3K,P181S,P56T,R226Q,R235G,S138N,T115I,T276A,T62I,V195E,V205L,V97M,Y101C,Y217C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390264 10110 sw7979;dbsnp1502 O10G9_HUMAN;NP_001001953.1 "A306T,A90T,A90V,A9V,D201N,D268G,G14V,H228R,I202F,I28V,I47L,K3N,L142I,L204V,M134V,P16S,P24R,Q172R,S136T,S138N,S207L,T4A,T62I,V200L,V246L,V267M,V298L,V84L,Y167C,Y176C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219870 10110 sw797;dbsnp441 GRIN2_HUMAN;NP_055511.2 "A233S,A343V,A356V,E267K,E401G,E54A,E63K,G202W,G288R,L39V,L400P,P158S,P169S,P20A,P304S,P329A,P84S,Q273R,R110Q,R137W,R239K,R242G,R281S,R33Q,R380Q,R40H,R446C,R446H,R5H,R76W,S104G,S183C,S266T,S328C,S4C,T100P,V241M,V348L,V375A,V47M,W91R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9721 7431 sw7980;dbsnp1386 O10G7_HUMAN;NP_001004463.1 "A18V,C244R,F256S,G146S,G20A,I28V,L204I,L6I,N133S,N171S,N194I,N194K,P181S,P24L,Q172R,R138H,R226Q,S139L,T136S,T13M,T276A,T277M,T5S,T90A,V34M,V97M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390265 10110 sw7981;dbsnp2631 OR4CD_HUMAN;NP_001001955.2 "A234V,A2V,C167R,C209F,D266Y,E9D,F249L,F92L,H137Q,H226R,L13S,L185V,S215F,S301C,T181I,V115I,V133I,V218I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283092 9203 sw7982;dbsnp2261 OR8J1_HUMAN;NP_001005205.2 "C169G,C189Y,G36V,I113M,I174N,I201T,I228M,I83M,M114L,M285L,M59T,P26S,T10I,T148I,T7I,Y120C,Y151H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219477 10503 sw7983;dbsnp1802 OR5M9_HUMAN;NP_001004743.1 "A67V,C139G,C187Y,G131D,K270R,L182V,L209V,L243F,L290M,M34T,N204D,P253L,Q184K,T262S,V266I,V97M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390162 10525 sw7984;dbsnp1479 OR5M3_HUMAN;NP_001004742.2 "A201P,A201T,A229E,E230K,E9D,F118S,G163A,G163S,L224R,L84F,M37V,N3S,N55H,R19Q,R260H,S215C,T158S,T16M,V137F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219482 10525 sw7985;dbsnp2162 OR5M1_HUMAN;NP_001004740.1 "A224V,L162I,L17Q,L48Q,R122C,S282T,S3F,T279A" "0,0,0,0,0,0,0,0" 390168 10525 sw7986;dbsnp2801 O5AR1_HUMAN;NP_001004730.1 "A76T,C169Y,F177Y,F94C,I225V,L55P,R293W" "0,0,0,0,0,0,0" 219493 9361 sw7987;dbsnp1418 OR9G4_HUMAN;NP_001005284.1 "A114V,C120Y,F43S,I189V,I62V,I78T,N206D,V222A,V234A,V295M,Y88C" "0,0,0,0,0,0,0,0,0,0,0" 283189 9361 sw7988;sws902;dbsnp1566 OR6Q1_HUMAN;NP_001005186.2 "D100G,D125V,G316A,I146L,I88F,I88T,K82N,L167M,L27F,N275S,R126H,R147C,R238C,T286M,Y173C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219952 10473 sw7989;dbsnp2394 OR1S2_HUMAN;NP_001004459.1 "A138E,A261T,A261V,D204N,G56R,H36Q,I260V,I59T,K249N,P296S,R150W,S243F,T123I,T147I,T268I,V225A,V225I,V225T,Y48H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219958 10269 sw798;dbsnp9038 JIP4_HUMAN;NP_001124000.1 "A281T,D306A,G1180D,H243D,H765Y,K247Q,L618S,N1320S,N694S,N789S,R549S,S194N,S283L,S604Y,T287A,T861I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9043 1147 sw7990;dbsnp2116 O10Q1_HUMAN;NP_001004471.1 "A20V,A318T,E12D,F107C,I226V,L111H,L59H,L67M,L86P,R191C" "0,0,0,0,0,0,0,0,0,0" 219960 10410 sw7991;dbsnp2553 OR9Q1_HUMAN;NP_001005212.1 "A2V,A83T,A99D,F107V,F28C,H56Q,P182L,P183L,R141H,R159L,V145M,V197L" "0,0,0,0,0,0,0,0,0,0,0,0" 219956 10553 sw7993;dbsnp28873 OR1K1_HUMAN;NP_543135.1 "A217T,A84T,A88S,G234V,H182P,L185F,L293I,M102V,R128Q,R273H,S316A,W271R" "0,0,0,0,0,0,0,0,0,0,0,0" 392392 10504 sw7994;dbsnp28622 OR1L4_HUMAN;NP_001005235.1 "A40V,G234R,H141Y,I92V,K23Q,L33F,M1T,P22S,R123Q,S65R,S88T,T39A,T3I,V224I,W140R,Y310H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254973 9419 sw7995;dbsnp28557 OR1B1_HUMAN;NP_001004450.1 "A230T,C263W,G110R,L149S,L34R,M253I,M61V,P268R,R142W,R233H,R240H,R98G,S249P,S3N,V314G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 347169 10439 sw7996;dbsnp28919 OR1L8_HUMAN;NP_001004454.1 "A268S,L15F,L246F,N173H,N173S,R211P,R236C,R3I,R51C,T161K,T27P,V127I,V35L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 138881 9419 sw7997;dbsnp28544 OR1N2_HUMAN;NP_001004457.1 "F194L,G125R,K203R,R139C,R237C,T301M,V244G,W37R" "0,0,0,0,0,0,0,0" 138882 9535 sw7998;sws903;dbsnp28930 OR1N1_HUMAN;NP_036495.1 "A17V,I43M,M134I,P18S,P19L,R163Q,R227Q,R229H,S24T,T85A,V204I,V245I,Y58N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 138883 9535 sw7999;dbsnp28832 OR1J2_HUMAN;NP_473448.1 "A119T,A223G,I221T,P262L,P262Q,R165Q,R165W,R227K,S312F,S64I,T279M,V202L,Y94C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 26740 9535 sw799;dbsnp20715 SUSD5_HUMAN;NP_056366.1 "D565Y,E378D,E416D,F40L,F542L,H324Q,L272S,L52F,R216K,R228K,R287Q,V123I" "0,0,0,0,0,0,0,0,0,0,0,0" 26032 4807 sw79;dbsnp26318 O2A25_HUMAN;NP_001004488.1 "A209P,G208R,S75N,V82A" "0,0,0,0" 392138 10436 sw7;spmut2272;dbsnp22205 UBA6_HUMAN;NP_060697.4 "A224T,D1035G,D527V,D539E,H134R,L679S,M32I,R175H,V1013L,V64I,Y1046H,Y663C" "0,0,0,0,0,0,0,0,0,0,0,0" 55236 1884 sw8000;dbsnp28597 OR1J1_HUMAN;NP_001004451.1 "A314V,E11K,H172Y,I221T,N318S,Q23P,T137S,Y218C" "0,0,0,0,0,0,0,0" 347168 9419 sw8001;dbsnp28547 O13F1_HUMAN;NP_001004485.1 "A119T,C97Y,F12L,F18S,F28S,F94S,G88A,I270M,I270T,I43T,L15R,M101V,R293W,S67T,T254M,V134I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 138805 9738 sw8002;dbsnp28918 O13C3_HUMAN;NP_001001961.1 "A290V,A78T,G32C,K293T,L60P,M229V,M258T,N15S,Y90H" "0,0,0,0,0,0,0,0,0" 138803 9738 sw8003;dbsnp28862 O13C8_HUMAN;NP_001004483.1 "A19D,D6N,F238V,G96R,H20Y,I310K,K175N,R299Q,S84R,V26L" "0,0,0,0,0,0,0,0,0,0" 138802 9738 sw8004;dbsnp28558 O13C5_HUMAN;NP_001004482.1 "A306V,C189Y,D70G,F32L,I134V,I135F,I282V,L199M,L212F,L23H,L69M,L86V,M258T,M290T,N128S,N195S,N5K,P262L,P79S,R122C,S104G,S18F,S229T,S231L,T219M,T246N,T267S,V117M,V142I,W149C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 138799 9738 sw8005;dbsnp28596 O13C2_HUMAN;NP_001004481.1 "F257V,F32L,I151T,I181L,I207L,I280T,K301E,K318R,L23H,L311P,L69M,L86V,M117V,M1I,M287L,P133S,P79S,R122H,R122L,S160T,S18F,S229R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 392376 9738 sw8006;dbsnp28478 O13C9_HUMAN;NP_001001956.1 "A306G,A98S,A98V,E24D,F197L,H17L,K301E,L268I,L39F,M136K,M282I,R122C,R314S,S230P,T91S,V146I,V19G,V36A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286362 9738 sw8007;dbsnp28871 O13J1_HUMAN;NP_001004487.1 "A201V,A301T,F168S,G253S,H133R,R139Q,R89Q,T43I,Y120C" "0,0,0,0,0,0,0,0,0" 392309 10613 sw8008;dbsnp26513 OR9A2_HUMAN;NP_001001658.1 "R165C,R177Q,R298Q,R303C,R53H,S235F,S239P,V256M,Y248C" "0,0,0,0,0,0,0,0,0" 135924 10571 sw8009;dbsnp26510 O2A12_HUMAN;NP_001004135.1 "A223T,H127Y,I149M,L279F,S264N" "0,0,0,0,0" 346525 10436 sw800;dbsnp25024 ZN292_HUMAN;NP_055836.1 "A2156T,D993N,G500V,I1740V,I2574T,N1430S,P164L,S1565G,S1604F,S897L,T1649I,T1676I,V1648I,V2045I,V2435I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23036 187 sw8010;dbsnp23588 OR2Y1_HUMAN;NP_001001657.1 "A299T,F61Y,H65Y,P21L,P21Q,P25H,R128C,R233C,R233H,R268H,R54W,V154M,V200L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 134083 9497 sw8011;dbsnp28922 O13D1_HUMAN;NP_001004484.1 "C63Y,E328D,F21L,G170R,L49F,L59R,L64I,L64V,L76H,L98H,M113V,Q191H,S277L,T142A,T192I,T195K,T225I,V47M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 286365 9738 sw8012;dbsnp20297 OR5H6_HUMAN;NP_001005479.1 "A145P,A46E,C195R,D285N,E27Q,H35Y,I158N,I237M,I55V,L130I,L262F,M56T,N324S,P199S,P42L,Q191K,R251Q,S179L,S88L,S88W,S91P,T123I,T123P,T133S,T272A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79295 10270 sw8013;dbsnp20986 OR5H2_HUMAN;NP_001005482.1 "E16Q,F282S,I230V,I286V,I42M,Q105H,R266C,S153P,S2L,T229I,T43A,V239I,Y256H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79310 10270 sw8014;dbsnp19023 OR6B3_HUMAN;NP_775486.1 "A242T,C179R,C234Y,G306S,R122C,T48I" "0,0,0,0,0,0" 150681 10111 sw8015;dbsnp14747 OR6K6_HUMAN;NP_001005184.1 "C197R,E39D,G32R,G69E,G80D,H10R,H261R,H49Y,I248N,K320R,L83V,P211L,Q128R,R159C,R247Q,S134L,S15R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128371 9836 sw8016;dbsnp14155 O11L1_HUMAN;NP_001001959.1 "A142T,F117L,G108D,G108S,G253R,G52D,I270M,I289V,Q90P,R131H,R138C,R171P,R234W,S275C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391189 10345 sw8017;dbsnp15296 O2T34_HUMAN;NP_001001821.1 "A244T,C132Y,D95Y,F183L,F183S,F261L,L256F,M202T,M277V,P134S,R239C,R239H,R267P,R298C,S247F,T20S,T224A,V155A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127068 9213 sw8018;dbsnp14223 O10T2_HUMAN;NP_001004475.1 "C98Y,D181H,F155L,F65L,F95L,G120E,I137M,I50T,I66T,I78V,K312N,L114F,L245R,L284I,N43S,R168C,R168S,R51H,T193N,V16A,V239A,V289I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128360 10021 sw8019;dbsnp13411 O10R2_HUMAN;NP_001004472.1 "A191T,A257V,A262T,E216G,E31K,L239F,L305P,M28V,P249S,S288T,T295M,T299M,V160M,V194D,V63I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343406 10021 sw801;dbsnp27557 ST18_HUMAN;NP_055497.1 "A550T,A92T,A945E,G839A,N355S,P479L,Q452K,R515C,R794H,S1005G,S294N,S704C,T414M,T41I,T647A,V140A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9705 1912 sw8020;dbsnp15119 OR6Y1_HUMAN;NP_001005189.1 "A224T,C132Y,E195D,F112S,G152R,I118N,I310T,L45V,L74R,M64V,R266L,R266P,T104I,T142I,T2I,V113A,V252I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391112 10111 sw8021;dbsnp13157 O10X1_HUMAN;NP_001004477.1 "A81S,C195F,F180C,F180L,G32D,I60T,L203Q,M117I,R138H,S172P,T90M,V263M" "0,0,0,0,0,0,0,0,0,0,0,0" 128367 10242 sw8022;dbsnp13145 O10Z1_HUMAN;NP_001004478.1 "A231T,H56N,I126V,I249V,K236E,L82F,N294T,S33A,V162F" "0,0,0,0,0,0,0,0,0" 128368 10021 sw8023;dbsnp13002 OR6K2_HUMAN;NP_001005279.1 "A224G,H172Q,I159F,I215N,L156V,P155S,P157A,P157S,Q198K,R236C,R6Q,S250L,S83F,T189A,T53S,V248F,Y35C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81448 9836 sw8025;dbsnp13148 OR6N1_HUMAN;NP_001005185.1 "A10T,C169Y,D271N,F245L,I194T,L29F,L86F,Q261R,R173C,R293H,T190P,T91I" "0,0,0,0,0,0,0,0,0,0,0,0" 128372 9836 sw8026;dbsnp14536 OR6N2_HUMAN;NP_001005278.1 "A109V,A204V,I250V,L274V,L44F,R128P,R128Q,V23F" "0,0,0,0,0,0,0,0" 81442 9836 sw8027;dbsnp14179 OR2L8_HUMAN;NP_001001963.1 "A182T,A202T,C240S,F199L,G196C,H226R,H226Y,I307S,K294R,L104S,L104W,L62R,M143K,M283V,Q219R,R121H,R134H,R134L,R265Q,S214A,T301K,V275F,Y217C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 391190 9213 sw8028;dbsnp13359 O13G1_HUMAN;NP_001005487.1 "G206R,H128R,I132V,I89S,K231N,K46I,M146L,N152S,R224C,V189L" "0,0,0,0,0,0,0,0,0,0" 441933 10711 sw8029;dbsnp14221 OR2G3_HUMAN;NP_001001914.1 "A106V,A300D,D175E,D269N,E180K,I178V,I289V,K229I,L164S,M59V,N65K,P21S,P54L,V258M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81469 9497 sw802;spmut1400;dbsnp3862 NUAK1_HUMAN;NP_055655.1 "G419D,G422V,P543R,R364W,R484H,R520Q,R592H,R595L,R599C,S367L" "0,0,0,0,0,0,0,0,0,0" 9891 4467 sw8030;dbsnp13163 OR2G2_HUMAN;NP_001001915.1 "G242E,L167P,M150V,M92R,N198T,P24A,R236G,R286H,R74G,S79T,V120L,Y126H" "0,0,0,0,0,0,0,0,0,0,0,0" 81470 9497 sw8031;dbsnp13746 OR6F1_HUMAN;NP_001005286.1 "F215L,F28S,G152S,L13P,L249F,P159A,R172H,R261H,V154M,V78A" "0,0,0,0,0,0,0,0,0,0" 343169 10690 sw8032;dbsnp14827 OR2T4_HUMAN;NP_001004696.1 "A104V,A57T,C60S,D102N,D328H,F134V,F135L,G141C,G20E,G259R,G73E,I288V,L100F,L47M,L80P,M150V,M260V,M347I,N31S,N37S,P300S,R325K,V137L,V156M,V186G,Y291C,Y322C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127074 9213 sw8033;dbsnp13507 O2T11_HUMAN;NP_001001964.1 "C119R,C119Y,C304F,D67E,G148R,I88T,M203R,P226R,P55R,Q309R,T279M,T2M,T54I,T54N,V24A,V257L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127077 9213 sw8034;dbsnp13455 OR2T3_HUMAN;NP_001005495.1 "A214T,A237T,A244T,A24S,C132Y,D95Y,F183L,F183S,F261S,G21A,H239R,K300E,L256F,M204T,M233T,M265V,M277V,M64T,R298C,R298H,S247F,S248F,S312P,T202M,V155A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343173 9213 sw8035;dbsnp13458 O2T27_HUMAN;NP_001001824.1 "A146V,C202R,D155N,G235R,G96E,I280T,I51M,K45M,L36V,M164T,P182R,R138S,R307S,S215L,S311L,T279S,V134D,V238G,V78A,V8M,Y120C,Y218H,Y226H,Y290C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403239 9213 sw8036;dbsnp5776 OR4Q3_HUMAN;NP_751944.1 "C264R,F238L,G153D,G65S,I162T,L105I,L260V,L30I,L56F,M113I,M119V,N129K,Q160H,Q184H,T10I,T135A,T228R,V161D,Y259C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 441669 9711 sw8037;dbsnp3805 OR8S1_HUMAN;NP_001005203.2 "A198T,C127R,E11K,G207R,H123R,H175Q,I268T,L283V,L82P,M118I,M48V,N5S,R122C,R128C,R220H,S178N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341568 9452 sw8038;dbsnp1732 OR8U1_HUMAN;NP_001005204.1 "A51T,A9V,F200L,H20L,H20P,H20R,H20Y,I109L,I109V,I282V,K295R,L131M,L288V,M206I,M206T,M206V,Q235H,Q235R,Q293R,R165C,R165G,R165S,S112C,S223F,T137S,T99A,Y290C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219417 9451 sw8039;dbsnp14217 OR2L2_HUMAN;NP_001004686.1 "C96Y,F249L,I125V,L222I,M283V,Q302R,R121H,S202T,T185M,V108G,V160I,V259L,Y217C,Y250C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26246 9213 sw803;dbsnp16945 NPA1P_HUMAN;NP_055640.2 "A1213T,A1700T,A709V,A927T,C78G,D1264H,D1778Y,D2088N,D2247N,D63E,I1391S,K693E,K929M,L1564P,L798P,N1754K,P2071R,P847A,Q1740H,R1578Q,R2231W,R409W,S1557N,S1695L,S1986N,S997L,T1467M,T668M,V1791L,V1968I,V2181L,V431M,V572M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9875 311 sw8040;dbsnp2523 OR5J2_HUMAN;NP_001005492.1 "A125V,F61Y,H229R,H229Y,L47P,M136I,Q50L,R139G,T146I,V83E" "0,0,0,0,0,0,0,0,0,0" 282775 9775 sw8041;dbsnp5904 OR6S1_HUMAN;NP_001001968.1 "D183H,D183N,E199G,I280V,L116M,L187V,L319I,R237H,R296C,R56Q,T243S,T281M,T42I,V156I,V36L,Y125H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 341799 10112 sw8042;dbsnp5603 OR4KF_HUMAN;NP_001005486.1 "A255E,C278R,E112V,I310M,I310V,L304P,M25R,N307K,N89S,R113H,R252H,S117A,S253C,V224L,V239A,V247I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81127 9711 sw8043;dbsnp5979 OR4KD_HUMAN;NP_001004714.1 "C127Y,F102I,F177I,I270N,L106F,N283S,P138A,Q159R,Q292K,R228H,R89C,S18A,V47M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390433 9203 sw8044;dbsnp5589 OR4L1_HUMAN;NP_001004717.1 "A119T,C210G,D2N,D84G,D84N,G109S,G16V,G36C,G36S,I160T,I190T,M101K,M40V,R302Q,R52S,S156T,S238F,S93F,S93P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 122742 9711 sw8045;dbsnp2395 OR5B3_HUMAN;NP_001005469.1 "A181T,A306V,F218L,G247A,G247S,I198F,I198V,I35F,K296R,M266T,M57I,N170S,P30L,R141C,R141H,W49R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 441608 10554 sw8046;dbsnp1727 OR4X1_HUMAN;NP_001004726.1 "A110T,A49V,D246N,G41D,L183M,L195M,L196Q,L92F,P165L,P251L,P282S,R120C,R144G,S225N,T34K,V143M,Y256C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390113 9203 sw8047;dbsnp1996 OR8K5_HUMAN;NP_001004058.2 "D121E,D70E,E11K,F68S,H142R,L256F,L280I,M106T,M118V,R122C" "0,0,0,0,0,0,0,0,0,0" 219453 10503 sw8048;dbsnp1576 OR8K3_HUMAN;NP_001005202.1 "I275M,K262E,L122R,L222F,M257I,N285I,T15M,V159A,V173I,V86I,Y258C" "0,0,0,0,0,0,0,0,0,0,0" 219473 9775 sw8049;dbsnp2269 O52N1_HUMAN;NP_001001913.1 "A101T,A198T,C125Y,F247I,G267W,G268E,K172N,M61V,M75V,R133C,R167C,T108I,T79N,V116L,Y49C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79473 10296 sw804;dbsnp26360 ZN862_HUMAN;NP_001092690.1 "A895T,E1154K,E977K,I178T,L1008H,R56C" "0,0,0,0,0,0" 643641 1506 sw8050;dbsnp1783 O56A3_HUMAN;NP_001003443.2 "M51T,V238L" "0,0" 390083 9304 sw8051 O52E5_HUMAN "D209G,E309K,L234P,T165I" "0,0,0,0" 390082 10530 sw8052;dbsnp2538 O52N5_HUMAN;NP_001001922.2 "A233G,C198F,D241H,F268L,G118D,G122R,G324S,I101S,I223T,L213V,M42V,P138T,R131C,R140H,R243W,S224T,V133I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390075 10296 sw8053;dbsnp2002 O51Q1_HUMAN;NP_001004757.1 "A239D,C153R,F308S,G11D,I137M,L204F,L248I,L273P,M84I,Q85H,R178H,R188C,R188H,R236Q,R265H,S115C,S219F,T146I,V155I,V211M,V57F,Y180S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390061 10474 sw8054;dbsnp1991 O52J3_HUMAN;NP_001001916.2 "C181Y,E59G,G21D,G271A,I194N,I47V,M27I,N211K,P154L,Q141L,R224C,R228C,R301Q,R58Q,T139I,T241M,T77A,V128I,V226I,V39A,Y306C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119679 10530 sw8055;dbsnp2209 O51A7_HUMAN;NP_001004749.1 "E8K,F103L,I255V,I31T,L146F,M40I,M81T,S229Y,V196A" "0,0,0,0,0,0,0,0,0" 119687 10474 sw8056;dbsnp1786 O52I2_HUMAN;NP_001005170.1 "A287T,C9F,D119G,H54P,I178V,I180V,I183V,I289N,I67T,I74L,L235F,L25P,L265S,P30T,R85W,S106L,T167M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 143502 9659 sw8057;dbsnp1983 OR5W2_HUMAN;NP_001001960.1 "A163P,C141G,F215L,F310Y,F39L,H159R,H65R,L304V,M160T,N135K,N42S,R139K,R165C,R189C,V148F,V248G,Y132S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390148 10292 sw8058;dbsnp2332 O4A16_HUMAN;NP_001005274.1 "A246V,A62D,A89P,A89T,C85F,D86E,F111L,F29V,H232R,I148V,I166F,I275T,I32V,I43T,I81T,K22Q,K303M,L105V,L137Q,L161V,L164I,L188I,L268F,L278P,L56P,M147V,M67I,R136Q,S274T,T24A,T24S,V156I,V248F,V248L,W44G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81327 9203 sw8059;dbsnp2397 OR4C6_HUMAN;NP_001004704.1 "A123D,A154T,A305G,E2K,E9A,G308R,I133T,K224Q,L223R,L61I,R120C,R120H,R231W,R288K,T217M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219432 9203 sw805;dbsnp11469 SI1L3_HUMAN;NP_055888.1 "A114D,A1351T,A190G,A341T,C832S,D1299E,D1312N,D148Y,D33E,D351N,D887N,E354D,G1310S,G1371S,G312W,G315A,G542R,L796M,M1215V,M381T,P1244L,P1450A,P230L,P318L,R1006Q,R1077L,R1330L,R1468Q,R1627W,R787H,S472N,S944P,T1180A,T1198M,T1481M,T608M,T941I,T968M,V1441I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23094 571 sw8060;dbsnp2184 OR4S2_HUMAN;NP_001004059.2 "C125R,D82G,E171G,F100L,F105S,I204F,I211F,I80T,L213Q,L41I,M296V,R232C,S217G,S72T,T89S,V195G,V271E,V7I,V81I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219431 9203 sw8061;dbsnp2151 O10A6_HUMAN;NP_001004461.1 "A117T,A117V,A30V,F168S,L287P,L39M,M78T,R122L,R306Q,S247P,S295N,V140G" "0,0,0,0,0,0,0,0,0,0,0,0" 390093 10475 sw8062;dbsnp1720 O56B4_HUMAN;NP_001005181.1 "A109V,G152E,G25D,H250Y,L160P,P277S" "0,0,0,0,0,0" 196335 10294 sw8063;dbsnp2545 OR6X1_HUMAN;NP_001005188.1 "A185V,A229G,F236S,I153T,I268V,M256T,N3H,R120C,R225Q,T190N,T74I,W70C" "0,0,0,0,0,0,0,0,0,0,0,0" 390260 10614 sw8064;dbsnp2167 OR4A5_HUMAN;NP_001005272.3 "A233D,A62V,C95S,D46A,D46V,D68V,E296K,E9V,F105I,F15I,G240R,G240S,I192M,I254M,I75V,K23N,L12F,L219Q,N6S,P127L,P164H,P77S,R120H,S162N,S241I,S312Y,T224A,T285R,T32I,V160M,Y121S,Y161C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81318 9203 sw8065;dbsnp1578 OR5R1_HUMAN;NP_001004744.1 "A186T,A274V,A300T,C103Y,C122R,D121G,F184L,I162T,I7T,L14P,M194V,N172K,P21L,P26L,R165H,R229C,R229H,R54G,S128G,V280M,Y123C,Y132H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219479 9775 sw8066;dbsnp1428 OR9G1_HUMAN;NP_001005213.1 "A132V,A210V,A259S,C53R,C53Y,C98G,E185K,F281L,F61V,G193C,G25V,I12T,I12V,I220V,K231Q,L212F,L286P,M197L,R121S,R169C,R226K,T222I,T62A,T62I,T83I,V117M,V247I,V273A,V279E,V28L,Y112C,Y233C,Y233H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390174 10758 sw8067;dbsnp2015 O5AK2_HUMAN;NP_001005323.1 "A67P,C169Y,G4V,H176R,H65Y,I26T,I289V,K306T,K89R,M92I,S43T,T163K,V103I,V120E,V214I,V303L,V30G,V69I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390181 10667 sw8068;dbsnp1807 OR1S1_HUMAN;NP_001004458.1 "A288V,A82V,C140Y,D204N,F116L,G154S,G246R,G46D,H135R,H184Q,I123T,I268T,I298M,K316E,L206M,L263P,N183D,P142S,Q103R,S227I,S5G,T23P,Y115N,Y73H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219959 10269 sw8069;dbsnp29008 OR1L3_HUMAN;NP_001005234.1 "H155L,I65N,L204Q,L86V,N121D,P324S,R138C,R165W,R25K,R54G,R54Q,S239F,T167I,V106A,V279A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26735 9419 sw806;dbsnp3404 ZC3H1_HUMAN;NP_659419.3 "D1299E,D1418E,E1006K,E108Q,K1807R,L1730F,M821V,P767L,R1552G,R667S,T516A,V547M" "0,0,0,0,0,0,0,0,0,0,0,0" 196441 430 sw8071;dbsnp26181 O2AE1_HUMAN;NP_001005276.1 "I77T,L267V,P167T,R172W,S214F,S286P,T23S,T281M,V95A,Y217C" "0,0,0,0,0,0,0,0,0,0" 81392 10324 sw8072;dbsnp15012 O10J5_HUMAN;NP_001004469.1 "A142V,C188Y,F12L,I196V,I92V,R122H,R233W,T276M,T71M,V134A,Y199F" "0,0,0,0,0,0,0,0,0,0,0" 127385 10162 sw8073;dbsnp14257 O14AG_HUMAN;NP_001001966.1 "C125R,I238T,L199R,L30F,V172A,Y149C" "0,0,0,0,0,0" 284532 10376 sw8074;dbsnp14824 O14CZ_HUMAN;NP_001001918.1 "C208S,D231Y,G203A,G225R,Q141R,R305I,S192R,V256L" "0,0,0,0,0,0,0,0" 127066 10615 sw8075;dbsnp13185 OR2T6_HUMAN;NP_001005471.1 "A146V,A96T,A99T,C23F,C23G,E3K,E89K,H20Q,I92F,K192T,L159P,N21D,R139W,S230L,S243A,T57N,V273D,V34I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 254879 9213 sw8076;spmut174;dbsnp18654 ATLA2_HUMAN;NP_001129145.1 "D420H,E230D,K166E,N272S,P13S,Q218E,R322Q,R443C,R443H,T393I,T477A,V545I,W18R" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64225 5367 sw8077;dbsnp10970 LIRB4_HUMAN;NP_006838.3 "A292V,A373S,A401P,A434G,C330Y,D223G,D352N,E371Q,E393K,F5L,G12R,G172R,G190R,G237V,G381E,H20D,H20L,K362E,K362Q,K362T,N335D,N335H,P17L,P309S,P338S,P378S,Q356H,Q414R,R159Q,R18S,R284H,R289G,R347G,R347W,R367S,S148G,T192I,T52A,V188L,W258R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11006 4574 sw8078;spmut1120;dbsnp10951 LIRB1_HUMAN;NP_006660.3 "A309V,A319T,A93T,D103H,D103N,E163A,E564A,E564K,E564Q,E625K,G350R,G448R,G583E,H301Y,I142T,I235M,I470V,K404N,L459V,L620F,L68P,Q321H,Q401H,Q401L,R175H,S155I,T283A,T372M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10859 4574 sw8079 ARK74_HUMAN "A255T,F322V" "0,0" - 9442 sw807;dbsnp6655 LCMT2_HUMAN;NP_055608.2 "A83S,C149Y,C478S,E197A,G176E,G661R,K472R,L317F,L418F,P223L,Q388H,R141S,T316I,T518A,V352F,V67L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9836 4199 sw8080;dbsnp30105 MSPD2_HUMAN;NP_689794.1 "R490H,S240N,T418I,T444I" "0,0,0,0" 158747 6344 sw8081;dbsnp6395 EXD1_HUMAN;NP_689809.2 "A122G,E284K,G401A,Q83H,R361W,S69R,T489A" "0,0,0,0,0,0,0" 161829 6406 sw8082;dbsnp4028 PLBL2_HUMAN;NP_775813.2 "A204V,A360P,A360T,A548V,Q254R,Q521K,Q54P,R354C,R524C,R62S,S300A,T361I" "0,0,0,0,0,0,0,0,0,0,0,0" 196463 5282 sw8083;dbsnp20215 CEP70_HUMAN;NP_077817.2 "D382N,D478H,F463L,G257V,G497R,L424H,L509H,M1V,N380D,N537S,P362A,Q385H,S12N,S135N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80321 5171 sw8084;dbsnp4055 DDX55_HUMAN;NP_065987.1 "A62T,D171H,E154G,L78I,M247T,N264S,N556S,R263C,R263H,R263L,S350R,S450R,T91I,V101L,V14G,V259A,V477M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57696 5132 sw8085;dbsnp6822 CO043_HUMAN;NP_689661.1 "G11S,H117Q,I101F,I87M,K144E,K95N,P31R" "0,0,0,0,0,0,0" 145645 12531 sw8086;spmut521;dbsnp21196 DNJB8_HUMAN;NP_699161.1 "G106V,M153L,R101Q,R206H" "0,0,0,0" 165721 10291 sw8088 CB063_HUMAN D552Y 0 130162 5324 sw8089;dbsnp8841;dbsnp8842;dbsnp8844;dbsnp8845 SPT22_HUMAN;NP_115987.2;NP_001164169.1;NP_001164168.1;NP_001164166.1 "I160T,L37V,L5V,P163S,P20A,Q155R,R112T,S85F,V148M" "0,0,0,0,0,0,0,0,0" 84690 9341 sw808;dbsnp18474 TRAK2_HUMAN;NP_055864.2 "E390K,I863N,L764P,M739V,N198S,R509W,R76W,R822Q,R93H,S26L,T407I,T528I,T657S,V142I,V404L,V892G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 66008 2528 sw8090;dbsnp16401 CT026_HUMAN;NP_056400.3 "A1110T,A329D,D505E,D94G,D971N,E1172G,E209K,E218K,E553K,E991K,F200L,G1042E,G40E,G556R,H1090R,H254R,H606N,I1178M,I1178V,I1208T,I316V,K1039T,K691R,L1045I,P1234T,P371L,P660L,P74R,R1030Q,R1115C,R382S,R496H,R580H,R590C,R800Q,R8K,S403L,S675N,S719R,V1237I,V273I,V369I,V671I,V866L,V886L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26074 1317 sw8091;dbsnp22292;dbsnp22293;dbsnp22294 SMS2_HUMAN;NP_001129730.1;NP_001129729.1;NP_689834.1 "K54R,N296S,T21M,V95I,Y175D" "0,0,0,0,0" 166929 8319 sw8092;dbsnp28601 TDRD7_HUMAN;NP_055105.2 "A815T,F712L,H421N,I780V,K1004E,K146R,P456L,P822T,P931S,R830C,R830H,R834H,T208A,T285M,V1050A,V150A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23424 1720 sw8093;dbsnp26347 GIMA7_HUMAN;NP_694968.1 "E177Q,G30R,I189V,L97V,R103C,R290K,R83C,T225A,V61F" "0,0,0,0,0,0,0,0,0" 168537 10855 sw8094;dbsnp29816 RHXF1_HUMAN;NP_644811.1 "D177H,D177N,P50A,R172H,V10A,V37I" "0,0,0,0,0,0" 158800 13283 sw8095;dbsnp19284 OTOSP_HUMAN;NP_683764.1 "A32T,D29E,E64K,P7L" "0,0,0,0" 150677 14765 sw8096;dbsnp1978 TPC2_HUMAN;NP_620714.2 "A272T,A287V,A39V,A633T,A642G,D276N,G317V,G387D,G430D,G583S,G734E,K376R,L124V,L564P,M484L,M546I,N618S,R76Q,S681L,V163L,V163M,V219I,V510I,V81I,Y433C,Y665C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 219931 3593 sw8097;sws905;dbsnp9256 B4GN2_HUMAN;NP_703147.2 "A108V,A40D,C466R,D129N,D129Y,E28K,L423V,M337I,M374I,P223A,Q436R,R177K,R183H,R491H,R523W,R542W" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124872 5600 sw8098;dbsnp9141 GA2L2_HUMAN;NP_644814.1 "A164V,A432T,A481T,A540T,A654V,A751D,A850T,E466K,G433R,G47E,G579D,G594R,G649D,H550R,I536N,K402E,L500V,L609S,L609W,L666P,L755V,P16R,P187T,P288L,P375L,P520S,P663S,P864L,Q293H,R248Q,R273C,R344H,R460C,R781P,R781Q,R829W,S399L,T218M,V251M,V541I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 246176 2714 sw8099;dbsnp24564 HUS1B_HUMAN;NP_683762.2 "A84G,C40R,D268Y,H130Q,L100V,Q201R,R108H,R108P,S177G,T105A,V136L" "0,0,0,0,0,0,0,0,0,0,0" 135458 11270 sw809;dbsnp7569 K0556_HUMAN;NP_056017.2 "A1218T,A1240V,A1267T,A363T,A535S,D210Y,D339A,D839G,D937Y,E1183D,E1260K,E1305K,E1342D,E1426K,E364K,E624K,G449S,G679S,H727L,M1582T,N172S,N916S,P220L,P789L,P920L,Q1370R,Q1595E,Q674P,R1184W,R123W,R1324C,R1368Q,R1616W,R230H,R450S,R574W,R85W,R885Q,S637L,S684Y,S70C,S950L,T522M,T751I,V1445M,V1597I,V349A,Y204C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23247 715 sw80;dbsnp26511 GRD2I_HUMAN;NP_001138590.1 "A374V,E462Q,G540S,P753L,Q461R,R109C,R133H,R20Q,R604Q,V435L,V57M" "0,0,0,0,0,0,0,0,0,0,0" 392862 1390 sw8100;dbsnp11714 ZFP28_HUMAN;NP_065879.1 "A43G,A620V,C716W,I234M,K736N,P16R,R395C,R833Q,S141W,S818N,T163S,T322A,T367I,T411I,T808S,T841A,V852G,W382R,Y813C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140612 2780 sw8101;dbsnp24229;dbsnp24231;dbsnp24234 NCOA7_HUMAN;NP_001186548.1;NP_001186549.1;NP_861447.3 "A781V,D942E,E438G,E62D,G533R,I79V,M105V,N329H,P180L,P52Q,R793G,S399A" "0,0,0,0,0,0,0,0,0,0,0,0" 135112 2378 sw8104;spmut966 INADL_HUMAN "A1504P,C744R,E362A,E779K,E780K,G1178S,G303R,I400V,I870M,Q599H,R1282H,V1360L" "0,0,0,0,0,0,0,0,0,0,0,0" 10207 559 sw8106;dbsnp11764 IKBD_HUMAN;NP_640332.1 V29A 0 84807 10580 sw8107;dbsnp16380 CTCFL_HUMAN;NP_542185.2 "A539V,A610T,E50Q,I136S,K188M,L82R,M447V,P115S,Q152H,Q525E,R448H,R51H,S243C,T177A,V329I,V652L,V652M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140690 4448 sw8109;dbsnp2310 KI18A_HUMAN;NP_112494.3 "E622K,H31R,I735V,K253R,M723T,N594S,P334S,P717L,P882L,Q62H,Q645R,T273A" "0,0,0,0,0,0,0,0,0,0,0,0" 81930 2622 sw810;dbsnp11747 MAST3_HUMAN;NP_055831.1 "G861S,G883S,P343A,R203Q,S500L,T196M" "0,0,0,0,0,0" 23031 563 sw8111;dbsnp5971 RNS11_HUMAN;NP_660293.1 "A110V,G88R,P5S,R122C,R129C,R129H,S150N,S21N,T74S" "0,0,0,0,0,0,0,0,0" 122651 12977 sw8113;dbsnp29875;hgmd0613_722 PCD19_HUMAN;NP_001171809.1 "A153T,A262D,D121N,D341E,D377E,D377H,D618N,E199Q,E249D,E414Q,F206C,F206Y,G513R,H203P,I1043F,L1094V,L190R,L25P,L433P,L543P,L81R,N1134H,N232S,N234S,N340S,N557K,P236S,P344R,P561R,P567L,R1107G,R1107H,R958Q,R980C,S276P,T146R,T404I,T808A,V1147I,V191L,V441E,V642M,V72G" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,0,0,1,1,1,1,1,0,1,1,1,1,1,1,1,1,0,0,0,0,1,1,1,0,0,1,1,1,1" 57526 1563 sw8114 SPNXE_HUMAN V68L 0 171489 14606 sw8115;spmut1983;dbsnp15102 SNIP1_HUMAN;NP_078976.2 "A174V,D383G,D386N,E366G,G11R,N193K,R111H,R116Q,R116W,R187W,S35N" "0,0,0,1,0,0,0,0,0,0,0" 79753 8662 sw8116;dbsnp25683 PP14C_HUMAN;NP_112211.1 "P160L,T10A" "0,0" 81706 13621 sw8117;dbsnp11829 ZN461_HUMAN;NP_694989.2 "E354K,H481Y,K410R,N87S,R272H,S395I,Y497C" "0,0,0,0,0,0,0" 92283 4279 sw8119;dbsnp27208 VTM2A_HUMAN;NP_872352.2 "E84K,M1I,N149S" "0,0,0" 222008 12198 sw811;dbsnp13740 CE104_HUMAN;NP_055519.1 "A164S,A686V,A882D,D672G,E184D,E184Q,E209G,E422K,E857K,G18S,G704E,G808E,H390R,I139T,L414I,M204I,R111W,R222W,R656C,R925H,T447M,V485I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9731 2464 sw8120;dbsnp195 EXOC6_HUMAN;NP_061926.3 "D362G,E130D,I695M,K562N,L523V,N425S,S150T,S623F,T10I,T396I,T578I" "0,0,0,0,0,0,0,0,0,0,0" 54536 3140 sw8121;dbsnp10452 CR056_HUMAN;NP_001012734.2 "C34F,R62G" "0,0" 494514 14357 sw8122;dbsnp14390 GABP2_HUMAN;NP_653219.1 "A212V,G314R,G399E,H50R,K315Q,R114H,R386H,S259L,V62I" "0,0,0,0,0,0,0,0,0" 126626 7628 sw8123;dbsnp29214 CI043_HUMAN;NP_689999.1 "A410T,D252G,H331Q,I107V,K321R,K402R,L194S,N108S,N378T,P271A,Q327R,R178Q,R29C,T372M,V338I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 257169 7390 sw8126;dbsnp26971;dbsnp26972 SUN3_HUMAN;NP_001025190.1;NP_689995.3 "A86T,H153R,I127V,K103N,L174H,L177V,N40D,P160L,P37R,P75L,R16H,V61A" "0,0,0,0,0,0,0,0,0,0,0,0" 256979 9495 sw8127;spmut2324;dbsnp15624 UHMK1_HUMAN;NP_787062.1 "A309P,L159V,S126N,V347L,V37L,Y197D" "0,0,0,0,0,0" 127933 8173 sw8128;dbsnp156 FGFP3_HUMAN;NP_689642.3 "A100S,A107T,D226H,E206V,E243K,K196R" "0,0,0,0,0,0" 143282 11746 sw8129;spmut1341 NEIL3_HUMAN "A547S,G520R,H286R,H556R,I346V,P117R,P443L,Q172H,Q471H,R38C,V76M" "0,0,0,0,0,0,0,0,0,0,0" 55247 5075 sw812;dbsnp9350 L37A3_HUMAN;NP_955372.2 "A10T,A1264T,D1453E,E1384G,E1398D,G1097D,G1207R,G1590A,G587E,H1308Q,H168L,H168P,H168R,H399D,K1215E,K1215Q,K151R,M1V,N1099K,P1371S,Q360R,R1311H,S1128L,S1236L,S1379P,S1566L,S159G,S159R,S3F,T1478I,T1593M,V1130I,V1299I,V1375I,W22R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374819 643 sw8130;dbsnp11544 ZN417_HUMAN;NP_689688.2 "A5V,F147L,F147V,G309V,K471T,N495S,P169S,Q11R,R316H,R316L,R41L,S310R,T10S,T431I,V15A,V179I,Y329C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147687 2862 sw8131;dbsnp26367 CP2W1_HUMAN;NP_060251.2 "A181T,D468N,H254Q,L183V,P142L,P316L,P464L,P488L,R186H,R251W,R328H,V432I,V462L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54905 6840 sw8132;dbsnp11593 ZN671_HUMAN;NP_079109.2 "A149V,A31T,C48F,F220S,G225R,G403E,L412F,P237S,Q112H,R60W,T364M" "0,0,0,0,0,0,0,0,0,0,0" 79891 6073 sw8133;dbsnp22116;dbsnp22117;dbsnp22118 MUC7_HUMAN;NP_001138478.1;NP_689504.2;NP_001138479.1 "A161V,A197T,A237V,A274T,D321N,D372E,L249P,N80K,P169T,P209Q,P219S,P223Q,P246Q,P292Q,P298S,Q200E,Q200P,Q346K,S242P,T176S,T291I,T316A,T342S,V260A,V337I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4589 9041 sw8134;sws907 GSDMB_HUMAN T132A 0 55876 8264 sw8135;dbsnp14015 F110D_HUMAN;NP_079145.2 "A125S,H53R" "0,0" 79927 11459 sw8136;dbsnp7574 CKLF2_HUMAN;NP_653274.1 "E61K,G86V,I122T,L116F,R171W,R72W" "0,0,0,0,0,0" 146225 11946 sw8137;dbsnp30165 CX038_HUMAN;NP_659407.1 "E157Q,E309K,Q207R,Q294K,T176A,T210M" "0,0,0,0,0,0" 159013 10411 sw8139;dbsnp5661 RIN3_HUMAN;NP_079108.3 "A668T,E111K,G613A,H215L,H215P,H215R,I117V,I160L,I466L,K577E,M339R,M359V,P187S,P477S,Q251K,R279C,R279H,R427Q,R427W,R468Q,R89Q,R89W,S91N,S950R,T425I,T425M,T638M,V391I,V679I,W63C,Y793H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79890 2161 sw813;dbsnp6549 AT10A_HUMAN;NP_077816.1 "A1179T,A1211V,A1284T,A1397V,A784T,C246Y,D1144V,D975N,E528D,E686K,E834K,F641L,G191R,G476S,I1188V,I367V,K536E,L1429V,L858S,M1054I,M1265I,N711K,P1360L,Q1352R,Q420K,Q420L,R1169Q,R1298S,R1469C,R1469H,R1469P,R170H,R244C,R296C,R296G,R503Q,R504H,R590Q,R689H,R999C,R999H,S353Y,S542G,S562L,S623G,T532M,T962M,V100L,V1198M,V314A,V493L,V593M,V817A,V934M,W1172C,W1228S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57194 827 sw8141;dbsnp5894;hgmd0613_2105 NUBPL_HUMAN;NP_079428.2 "G26V,G56R,H229Y,N198T,V182A" "0,0,0,0,0" 80224 10412 sw8142;dbsnp27527 DPTOR_HUMAN;NP_073620.2 "A66T,G5D,M166V,N148S,N204S,N232S,R345Q,S292N,S389N,S9N,Y140H" "0,0,0,0,0,0,0,0,0,0,0" 64798 8407 sw8143;sws908;dbsnp24966 FBX30_HUMAN;NP_115521.3 "A46S,D64G,H583Q,N300I,N390S,R654H,R96Q,S321L,S382C,T460I,V114I,V375M" "0,0,0,0,0,0,0,0,0,0,0,0" 84085 3661 sw8144;dbsnp24934 S35B2_HUMAN;NP_835361.1 "E426Q,G360R,I165M,L342V,V207I" "0,0,0,0,0" 347734 7910 sw8145 PRR7_HUMAN P127H 0 80758 11398 sw8146;dbsnp10400 ZN519_HUMAN;NP_660330.2 "E86A,F124L,G89S,H431P,H431Y,I257V,K206E,M142I,N167S,Q477E,Q477R,Q507R,R229I,R449Q,R508I,R528C,T114I,T336A,T364P,T539I,V481I,W18R,Y29C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 162655 4279 sw8148;dbsnp5477 GOGA5_HUMAN;NP_005104.2 "A67G,E374K,E546G,F350L,M486V,N380S,Q483H,R281Q,R284Q,S157G,T212N,T61K,T61M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9950 3772 sw8149;dbsnp7585 KLDC4_HUMAN;NP_060036.2 "A38V,D331Y,D415E,D508N,E391K,E416K,E489G,E510K,G130R,G130V,G146E,G146R,G173C,L155V,L402F,L56V,L69V,N434S,P240A,P305S,Q167E,R181Q,R181W,R296Q,R341C,R341G,R357H,S289L,T102I,T229A,V395M,V446I,Y98C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54758 6303 sw8150;dbsnp20373 S7A14_HUMAN;NP_066000.2 "A328D,A737V,C464F,E33D,G330R,G722R,H376D,I211T,I59T,L570F,M516I,T274I,T318M,V174M,V377I,V390L,V514M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57709 3434 sw8151;dbsnp12455 SHKB1_HUMAN;NP_612401.2 "A207T,A274V,I206S,L103F,M358I,P610L,Q507L,R139Q,R240Q,R246W,R658H,S418L,S418W,S457C,S628Y" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92799 3113 sw8152;spmut2270;dbsnp21347;hgmd0613_1135 UBA3_HUMAN;NP_003959.3 "K381I,K9R,P137L,T224M,V24G" "0,0,1,0,0" 9039 7348 sw8154;dbsnp6663 BAHD1_HUMAN;NP_055767.3 "A418S,D182H,E26G,E412K,G453R,G468S,L300Q,N365S,P240A,Q298K,R52C,R5Q,T523A,V293I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22893 3361 sw8155;dbsnp23574 FNDC9_HUMAN;NP_001001343.2 "H50N,I131T,L44H,P109S,P143L,P166A,P166L,P22S,S98N,T57M,V138I" "0,0,0,0,0,0,0,0,0,0,0" 408263 12453 sw8156;dbsnp20100;dbsnp20101;dbsnp20102;hgmd0613_653 S35G2_HUMAN;NP_001091068.1;NP_079522.2;NP_001091069.1 "I137L,K400R,M104I,M61R,R123S,T349I,Y373C" "0,0,0,0,0,0,0" 80723 8340 sw8157;dbsnp4722 ZCRB1_HUMAN;NP_149105.3 "A70T,G3D,P131Q" "0,0,0" 85437 12587 sw8158;dbsnp20410 PIGX_HUMAN;NP_060331.3 "E197D,L74S,P155L,R151C,R154Q,R78C,V190A" "0,0,0,0,0,0,0" 54965 11356 sw8159;dbsnp21846 AT2L1_HUMAN;NP_112569.2 "A296G,E461A,G238S,H490Y,S145F,S185P,T379I" "0,0,0,0,0,0,0" 64850 6691 sw8160;dbsnp11071 ARRD2_HUMAN;NP_056498.1 "A18V,A244T,A254V,D14H,K147R,L135M,L396P,P165S,P309S,R128H,R137L,R137Q,R181H,R192H,R230Q,R262Q,V203I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27106 8437 sw8161;dbsnp21653 FEZF2_HUMAN;NP_060478.3 "G188D,H228D,L195I,P164T,S250W" "1,0,0,0,0" 55079 7122 sw8162;spmut1907;dbsnp7946 SETD6_HUMAN;NP_001153777.1 "A23V,A445V,D340N,E42G,L202R,L438V,Q387R,R185S,R206G,S419C,T426A" "0,0,0,0,0,0,0,0,0,0,0" 79918 7149 sw8163;dbsnp1350 R3GEF_HUMAN;NP_037533.2 "H323Y,K368R,P205R,Q49R,S190P,T26A" "0,0,0,0,0,0" 5866 7089 sw8164;dbsnp9684 TBC16_HUMAN;NP_061893.2 "A157V,A244T,A291T,E162K,E476K,F551L,G167S,G185R,G752A,R114Q,R684Q,R766H,S188L,T128M,T189M,V522M,V527I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 125058 3461 sw8165;dbsnp25987 S2540_HUMAN;NP_061331.2 "F182I,K186Q,M277V,N294T,S247C,T123I" "0,0,0,0,0,0" 55972 9948 sw8167;dbsnp3732;dbsnp3734 PI42C_HUMAN;NP_079055.3;NP_001139730.1 "A300G,K241R,V84A" "0,0,0" 79837 8134 sw8168 PMFBP_HUMAN K650T 0 83449 2020 sw8169;dbsnp3558 WDR66_HUMAN;NP_653269.3 "A358T,A482T,E25K,E61G,F1095S,F940L,G1047D,G66E,H294Q,L445F,L650F,M708T,N286S,P1028Q,Q191R,R109H,R188W,R225Q,R417Q,R860C,T383M,V307I,V870L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144406 1560 sw816;sws93;dbsnp17024 MCM3A_HUMAN;NP_003897.2 "A1102V,A1435T,A1746T,A1795T,A1941V,A268P,A544T,A670T,D1449E,E396K,E531G,E803K,G132E,G1579E,H977D,K28Q,L1870R,L409P,L945V,M1464T,M288V,M907V,N228T,N246T,N247S,P1051L,P115S,P413L,P970L,Q1170H,Q1355R,R1261L,R1314W,R1760Q,R1831C,R333L,S102L,S1076Y,S117T,S1926G,S193P,S316F,S383F,T423A,V1062M,V118A,V1576I,V1776A,Y445N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8888 437 sw8170;dbsnp22119 CC110_HUMAN;NP_689988.1 "E39A,E422K,E805K,F100L,G233E,H725R,I307V,I470V,I614M,L299M,L382M,L596I,L819M,M283T,M540V,N120S,P117A,P209Q,P228S,Q429P,Q669R,S375F,S409F,S817L,V708A,Y476D,Y500D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 256309 3016 sw8172;dbsnp5939 WDR20_HUMAN;NP_653175.2 "C267S,G160S,G444C,N107S,P159H,P410L" "0,0,0,0,0,0" 91833 5137 sw8173;dbsnp20700;dbsnp20701;dbsnp20702;dbsnp20703 ZN502_HUMAN;NP_149987.2;NP_001127912.1;NP_001127913.1;NP_001127914.1 "E243A,H505Y,L28P,N270S,N447Y,P322T,P518S,Q174R,R501H,T147A,T184A,T486S,V199A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 91392 3511 sw8174;sws909 RG9D2_HUMAN R133Q 0 93587 9926 sw8175;dbsnp26261 CG062_HUMAN;NP_689919.1 "C186S,D160N,D48H,E221A,E221K,F22S,G197S,I126V,Y114F" "0,0,0,0,0,0,0,0,0" 219557 11841 sw8176;dbsnp3397 MDM1_HUMAN;NP_059136.2 "A661T,K100N,N184D,P552L,P630S,R172L,R172P,R274H,R489H,S689F,T103I,V134A,V150M,V383I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56890 3929 sw8178;dbsnp27498;dbsnp27499;dbsnp27500 ZN596_HUMAN;NP_001035880.1;NP_775810.2;NP_001035881.1 "C164Y,D25N,G168E,G341R,G425V,H226L,H363Y,L350I,Q93H,S100R,S431C,T136K,V476G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 169270 6583 sw8179 ADA32_HUMAN "D778E,K658N,L327V,Q98R,S160G,T467S" "0,0,0,0,0,0" 203102 3305 sw817;dbsnp6575 F1891_HUMAN;NP_056122.1 "A168T,A435P,A533T,C103S,C115Y,G228S,G314D,H375R,M97V,P373S,R393H,R396C,R416M,V431A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23359 5998 sw8180;dbsnp16169 SUN5_HUMAN;NP_542406.2 "A174T,A313T,E16K,E39D,I120V,M126T,R159Q,R258H,R32Q,T63I" "0,0,0,0,0,0,0,0,0,0" 140732 9001 sw8181;dbsnp24350 RN217_HUMAN;NP_689766.1 "I237V,L262Q,R165H,S119G,V89I" "0,0,0,0,0" 154214 11368 sw8182;dbsnp22949 FA71B_HUMAN;NP_570969.2 "A193T,A374V,A543V,D459H,D459N,K480Q,K57R,L527S,M296T,M564T,N34S,Q138E,R447C,R539K,S337T,S540R,T187P,V424I,V599I,Y15C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 153745 5076 sw8183;dbsnp18620 CB065_HUMAN;NP_620159.2 "E159V,E184Q,H2L,P22A,Q70R,R266Q,R5Q,T195P,T232I" "0,0,0,0,0,0,0,0,0" 130951 6130 sw8184;dbsnp22054 MIEAP_HUMAN;NP_660306.1 "A280G,A280T,C512Y,I57F,K292R,K483R,P260S,P286A,R184C,R184G,R234Q,R267H,R267P,R514C,S176Y,S227P,S390I,T145I,V411I,V71M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 132671 6014 sw8185;dbsnp1 FANK1_HUMAN;NP_660278.3 "C343F,G244E,H189R,I162M,L329V,P12L,R128Q,R134C,R319K,R46S,R84H,S89R,V100I,Y186C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92565 9792 sw8186;dbsnp4094 CCER1_HUMAN;NP_689851.1 "C381Y,D286E,E293K,G17R,I379M,K174R,P265L" "0,0,0,0,0,0,0" 196477 8461 sw8187;dbsnp5096;dbsnp5097;dbsnp5098 ENOX1_HUMAN;NP_060463.2;NP_001121087.1;NP_001229792.1 "E16D,G479R,Q66R,R396H" "0,0,0,0" 55068 4661 sw8188;sws911;dbsnp11486 ACTL9_HUMAN;NP_848620.2 "E401V,F37S,G314D,H200Y,H227N,R159S,R271P,R271Q,R400Q,S192R,V261M,V51A,V52M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 284382 8257 sw8189;dbsnp8870 FNDC8_HUMAN;NP_060029.1 "A127T,A136V,G116V,M126V,M41V,R259H,S36P,V102M" "0,0,0,0,0,0,0,0" 54752 10297 sw8190;dbsnp13527 IFI44_HUMAN;NP_006408.3 "D145V,D418A,E333A,E373K,G239R,G93V,H213Y,I124F,I160M,I267T,L405V,P97S,R303I,R331Q,S256I,S297F,W9R,Y231C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10561 7692 sw8191 O51E1_HUMAN S9N 0 143503 10293 sw8192;dbsnp18163 RM30_HUMAN;NP_660213.1 "A130T,G57S,R78H,S161F" "0,0,0,0" 51263 13697 sw8193;dbsnp2467;dbsnp2468 S22A8_HUMAN;NP_004245.2;NP_001171661.1 "A310V,A369V,A389V,F129L,I260R,I275M,I305F,N198I,R149S,R180C,R277Q,R277W,R513Q,R9H,T212A,V281A,V448I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9376 5632 sw8194;dbsnp10508;dbsnp10509 CR032_HUMAN;NP_001030177.1;NP_001186275.1 "P37H,P67L" "0,0" 497661 14844 sw8195;dbsnp8745 NT5C_HUMAN;NP_055410.1 "D145N,G121R,P122L,P68L" "0,0,0,0" 30833 12368 sw8196;dbsnp19758;dbsnp19759;dbsnp19760;dbsnp19761;dbsnp19762 PHOP2_HUMAN;NP_001008489.1;NP_001186217.1;NP_001186216.1;NP_001186215.1;NP_001186214.1 "D241Y,E62D,K206E,K29R,P32L" "0,0,0,0,0" 493911 12101 sw8198;dbsnp20390 CIP2A_HUMAN;NP_065941.2 "A362T,C58F,D141N,F45L,H314R,I759V,K126R,K611R,K729E,K820T,N745K,P293T,P494L,R229Q,R346H,R680T,S213F,S572A,S690C,T409I,T447A,Y135C,Y556C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57650 2584 sw8199;dbsnp21735 P4K2B_HUMAN;NP_060793.2 "E6K,G346V,Q287H,R283K,R459W,S78P,V449A" "0,0,0,0,0,0,0" 55300 6984 sw81;dbsnp14394 MTMRB_HUMAN;NP_001139334.1 "A603G,E200D,G149S,G249D,L100V,M159V,Q531P,R119H,R231L,R521H,S560F,T493I" "0,0,0,0,0,0,0,0,0,0,0,0" 10903 3978 sw82 SH321_HUMAN S217A 0 79729 3561 sw8200;dbsnp12925 PIFO_HUMAN;NP_857594.2 "H105N,K97N,R80K,S42P" "0,0,0,0" 128344 13151 sw8201;spmut675;dbsnp27799 FBX25_HUMAN;NP_904357.1 "D215H,I46M,N36D,R109Q,R38H,R83C,S113L" "0,0,0,0,0,0,0" 26260 9256 sw8202;spmut1582;dbsnp18098;hgmd0613_2202 PNPT1_HUMAN;NP_149100.2 "A507S,A559G,E230Q,H288Y,I121V,I138V,K315R,M485T,N590D,P165S,S41T,S599T,T150A,V509I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 87178 3329 sw8203;dbsnp17641 CERK1_HUMAN;NP_073603.2 "D186H,G475R,G475W,G67E,H260R,I191V,L306F,L472F,R148Q,R282C,R348Q,T211M,T461M,V338G,V378M,V384I,V89A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64781 6031 sw8204;spmut2017;dbsnp11779 SPP2B_HUMAN;NP_694533.1 "A165V,A331T,A78T,L334V,M1I,P517A,P533L,P584L,Q549L,Q549R,R68H,S574P" "0,0,0,0,0,0,0,0,0,0,0,0" 56928 5242 sw8205;spmut2016;dbsnp6776 SPP2A_HUMAN;NP_116191.2 "A200S,A200V,D427E,G34E,N126D,R281H,T475S,V90I" "0,0,0,0,0,0,0,0" 84888 6304 sw8206;spmut887;dbsnp16119 HM13_HUMAN;NP_110416.1 "A259P,H201Y" "0,0" 81502 8030 sw8207;dbsnp27601 S7A13_HUMAN;NP_620172.2 "E268G,E470K,F123L,F181Y,I174F,I72M,K154E,L270F,L330F,M452T,N45K,N96D,P391H,R380K,S34Y,S397P,V249M,V52I,W98R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 157724 7201 sw8208 ALMS1_HUMAN G1412A 0 7840 69 sw8209;dbsnp28782 NMD3A_HUMAN;NP_597702.2 "D835N,F1029L,G116S,G487R,G487V,I875F,N1062S,N1073I,N549S,P476L,Q925H,R1041Q,R1090H,R1111Q,R480H,R793S,S1017F,V362M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116443 1673 sw820;dbsnp6490 MABP1_HUMAN;NP_001122080.1 "A1448V,D1017A,G1350C,G1428D,G795R,K1444Q,L313V,L525V,P1153L,P1244L,R1108C,R1172C,R1223W,R1240P,R1343S,R1427H,R303C,R334H,R752W,R833W,R977Q,S1094C,S1118L,S1367N,S889L,T1021M,T437I,T663I,V160I,V392I,V480M,V517L,Y204S,Y344C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23005 807 sw8210 PREX1_HUMAN "A1118T,K1340E,Q786H,R696C,S1559T,V1240I,V659M" "0,0,0,0,0,0,0" 57580 681 sw8213;dbsnp18859 PKR1_HUMAN;NP_620414.1 "I379V,L340Q,N36Y,R89C,S40G,V306L" "0,0,0,0,0,0" 10887 8726 sw8214;dbsnp18520 DC2L1_HUMAN;NP_057092.2 "D95A,E172K,E287D,E348Q,F33S,G265S,I230L,L6F,M164T,P58S,T134I" "0,0,0,0,0,0,0,0,0,0,0" 51626 9613 sw8215;dbsnp26204 URGCP_HUMAN;NP_001071131.1 "A262T,A760S,L756F,M779L,P285L,P580L,R432Q,R531Q,S651L,T67A,T697A,V255M" "0,0,0,0,0,0,0,0,0,0,0,0" 55665 2426 sw8216;dbsnp24699 N2DL4_HUMAN;NP_631904.1 "A141T,A152T,F233L,I22T,L60I,R128H,R12H,R194G,R99Q,T142I,V237L,Y82N" "0,0,0,0,0,0,0,0,0,0,0,0" 135250 11624 sw8217;spmut1241;dbsnp27848 MK15_HUMAN;NP_620590.2 "A373P,A459D,A54P,D50Y,E167K,G36S,G385D,H193Y,L128V,L162Q,L424P,L63I,P358L,R213L,R213Q,R260W,R496W,S192P,S505P,T221K,T381P,V39M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 225689 5929 sw8218;dbsnp6080;dbsnp6081;dbsnp6082 MIPO1_HUMAN;NP_001182226.1;NP_620059.1;NP_001182225.1 "Q141L,S275F" "0,0" 145282 7726 sw8219;dbsnp26214 ZN398_HUMAN;NP_733787.1 "A292G,E87D,S294L,S389T,T256S,T414I,T9A,V98M" "0,0,0,0,0,0,0,0" 57541 4672 sw821;spmut1177;dbsnp23650 MARH6_HUMAN;NP_005876.2 "E201K,I501L,N628H,P182L,P622L" "0,0,0,0,0" 10299 2559 sw8220;sws912;spmut1346;dbsnp5850 NEK9_HUMAN;NP_149107.4 "C878Y,D84N,G755S,L962F,P751L,P828T,R249S,R311H,R429H,R786Q,R871Q,S274C,T925A,V240I,V631I,W352C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91754 2190 sw8221;dbsnp11637 ZN675_HUMAN;NP_612203.2 "A410T,E309G,E337G,F240L,K229R,L124V,L383V,N110S,N434S,T307I,T356I,V197A" "0,0,0,0,0,0,0,0,0,0,0,0" 171392 1203 sw8222;dbsnp16339 CHD6_HUMAN;NP_115597.3 "A1205G,A1393T,A151T,A1932T,A2322T,E105Q,E1951K,E2404Q,F2375L,G1519D,G2153S,H1225Q,H1942L,H2161Q,I1975M,L1893F,L1950F,L2416P,L61V,M950I,N14D,N1801S,N1862S,N1899I,P1387L,Q780H,R1434K,R1798I,R2389C,S1491L,S1654F,S2455C,T1897A,T2326S,T2504M,V1366I,V573I,Y1570F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84181 190 sw8223;dbsnp24235 CCHCR_HUMAN;NP_061925.2 "A197V,A367T,A423V,A733V,A86T,E275D,G575C,K546R,K648M,L179Q,L508V,Q486H,Q639H,Q667L,R102Q,R103W,R109W,R134W,R398C,R398H,R417Q,R417W,R524C,R613Q,R627Q,R63W,R656C,S164R,S776C,T114I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54535 2767 sw8224 SG1C1_HUMAN I70R 0 653486 14718 sw8225 CT201_HUMAN G9W 0 198437 13096 sw8228;dbsnp6539 PKHO2_HUMAN;NP_079477.2 "E249G,E305D,G10S,G306V,H385L,L159M,M346I,P290A,P290S,P381A,R142Q,R387H,R408Q,R478Q,R75H,T423A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80301 6841 sw8229;sws913;dbsnp7332 DYH3_HUMAN;NP_060009.1 "A13T,A1560P,A1780V,A2916S,A3098V,A3584D,A360S,A41T,C2586Y,D1457N,D2493N,D3785N,D954N,E1244D,E2757Q,E3457K,E3954Q,E510K,E972K,F987L,G143S,G2193R,H2866R,H3234R,I1036S,I1565M,I1653M,I1790F,I2254T,I2399N,I2782M,I2804V,I3141V,K2949T,K3250R,K3888R,K641N,L2686R,L3376F,L3639I,L3886P,M3081L,M3112I,M3292T,M3861L,M4058V,N3110S,N402S,N427I,P1197L,P2779L,P2867L,P3531L,P382L,Q1449H,Q214K,R1550W,R1576K,R1631W,R1777W,R1787C,R1787H,R1972K,R316C,R3489Q,R3645C,R3704K,R3744W,R3891Q,R513C,R545W,R908S,S1399F,S2879L,S504F,T1752M,T2663M,T640M,V1583I,V1709I,V2527M,V280M,V3680F,V595I,W3454C,Y1599C,Y3294F,Y3450C,Y3615C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55567 72 sw822;spmut2113;dbsnp4930 TBCD4_HUMAN;NP_055647.2 "A101V,A1271T,D303A,E523D,G1039S,H517Y,L1284I,N1206S,P619L,R684G,T1147M,T752I,V1119A,V1163G,V1275A,V819I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9882 1171 sw8230;dbsnp14830 CALL6_HUMAN;NP_619650.2 "G51R,G56V,G87A,L65V,M172T,N144D,R29C,T55M,W60R" "0,0,0,0,0,0,0,0,0" 163688 13342 sw8231;dbsnp30123 MAGE2_HUMAN;NP_619648.1 "A151V,E170K,E265K,E388K,G107E,G291C,M329I,P65R,Q45K,Q60R,R448H,S59Y,S76T,T341A,T341S,V231L,V40A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139599 6239 sw8232;dbsnp29576 MAGC3_HUMAN;NP_619647.1 "A307T,A328T,D140V,D48V,D624E,K228R,K479E,L165M,P108L,P412S,S155P,V342I,V464L,V567F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 139081 4662 sw8233;dbsnp26826 KLF14_HUMAN;NP_619638.1 "A173P,A173S" "0,0" 136259 10325 sw8234;dbsnp22007 HUMMR_HUMAN;NP_116012.2 "A128T,A164V,I133V" "0,0,0" 84709 12124 sw8235;sws915;dbsnp20433 DTX3L_HUMAN;NP_612144.1 "G459V,K460E,K668M,R425K,S204L,T280I" "0,0,0,0,0,0" 151636 3695 sw8236;dbsnp4065 GTR14_HUMAN;NP_703150.1 "A126V,G506E,I195F,P32S,R478H,S102F,Y449H" "0,0,0,0,0,0,0" 144195 6305 sw8237;dbsnp22991;dbsnp22992 MYOZ3_HUMAN;NP_588612.2;NP_001116325.1 "E65D,P22R,R229H,R44C,S161P,S77R,T209N" "0,0,0,0,0,0,0" 91977 11890 sw8238;sws916;spmut236;dbsnp12685 BRSK1_HUMAN;NP_115806.1 "A461S,G749S,L639V,P764A,T531N" "0,0,0,0,0" 84446 3380 sw8239;dbsnp3278 DDX54_HUMAN;NP_076977.3 "A169T,A525V,G6R,G702E,G803S,K772N,L499P,M206L,P416L,P524L,P821L,R521H,R523C,R570H,R572Q,R583Q,R685W,R693Q,R795P,R820H,R868Q,S100F,S104T,S502P,S587G,S71L,V286M,V712A,Y353C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79039 2706 sw823;dbsnp20755 ECE2_HUMAN;NP_055508.3 "A216G,E637K,E732K,F119L,G5R,G68R,G774S,H101Y,L186V,L78F,M616V,P626R,R115Q,R521Q,R571Q,R703H,S747T,T132M,T755M,V127A,V596A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9718 2698 sw8240;dbsnp5923 RNAS8_HUMAN;NP_612204.1 "G101R,G108S,P10S" "0,0,0" 122665 13799 sw8241 NETO1_HUMAN S481N 0 81832 6090 sw8242;spmut811;dbsnp11014 GRP4_HUMAN;NP_733749.1 "E620K,E78K,G165R,I18T,Q120L,R261C,R335G,V145A" "0,0,0,0,0,0,0,0" 115727 4342 sw8243;sws917;spmut857 HELQ_HUMAN "L235P,P585S,V1094M,V35E" "0,0,0,0" 113510 1708 sw8244;sws918;dbsnp13889 CHD5_HUMAN;NP_056372.1 "A1446S,D676N,E1609K,G563R,K688E,M1576I,P480A,P480T,R1621Q,R658K,S1253I,S151L,S1539P,S259C,T157M,T1750M,T478M,V680L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26038 449 sw8245;dbsnp16404 TMC2_HUMAN;NP_542789.2 "A491T,E150K,E370K,E394D,E621K,E800Q,E816Q,F435L,L181Q,L592P,P709L,Q205R,R123K,R336Q,R571W,R663C,R663H,R784Q,S106F,S573C,S589C,T169P,V16L,V710E,W217R,W258C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117532 2580 sw8247;dbsnp6536 DMXL2_HUMAN;NP_056078.2 "A1294T,A1366D,A2382G,D1481G,D1992E,D2016N,D2484G,D447N,E144Q,G2166E,I1317V,I1445T,I568V,I699T,I815T,L2020F,L2408F,M2514V,N123S,N903D,P956T,Q1296R,Q2012P,R1684K,S1287G,S1287I,S1288P,S1396F,S2315P,T497M,T8S,V1312A,V153F,V936I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23312 144 sw8248;dbsnp16158 BPIB1_HUMAN;NP_149974.2 "A458T,D287H,D466V,G210S,G322R,I84V,I94F,K39E,K39R,M62T,P113S,P150L,R142H,R142L,R166H,R166S,S298P,S313I,S479T,T140A,T342I,T464S,V129A,V284M,V338M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92747 6934 sw8249;dbsnp16231 BCAS4_HUMAN;NP_060313.3 "E56D,M71T,R173H,S160T,S160Y" "0,0,0,0,0" 55653 12715 sw824;dbsnp10543 PHLP1_HUMAN;NP_919431.2 "A356T,E777D,F291V,F772C,G1330S,I809V,M759T,N1093S,S1118T,S607F,S659G,T1078M,T1164I,T622A,V1195M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23239 623 sw8250;dbsnp191 DLG5_HUMAN;NP_004738.3 "A1322V,A1600V,A1738T,A1872V,D1607N,D318E,E1135A,E624Q,H172N,H381R,H830Y,K987R,L1192P,L1739P,M1903V,N1674S,P1089L,P1481Q,P1918S,P967S,Q140R,R1072C,R1697L,R782H,S231G,T171M,T361M,T387M,V1294L,V1904I,V671I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9231 471 sw8251;dbsnp7665 KCNG4_HUMAN;NP_758857.1 "A148T,C255Y,C269R,E321K,G121E,G220R,G325R,G372S,G442R,G8W,P117S,P294L,R206W,R427H,R68G,R79Q,R92Q,S460C,T418M,V236I,V308M,V419M,Y260H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93107 6331 sw8254;dbsnp23115 HAVR2_HUMAN;NP_116171.3 "G208A,I171T,I205M,I97M,P277L,Q175R,R140L,R259H,R297H,T101I,T154S" "0,0,0,0,0,0,0,0,0,0,0" 84868 10836 sw8255;spmut383;dbsnp8895 CLM1_HUMAN;NP_620587.2 "A173T,A250T,D104N,D207V,I165L,L254S,P139L,P217L,Q184R,Q218R,R55Q,T282K,V171M,V19A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146722 11096 sw8256;dbsnp22804 GNPI2_HUMAN;NP_612208.1 "P182S,R23C" "0,0" 132789 11132 sw8257;dbsnp18672 MIPT3_HUMAN;NP_056465.2 "D400A,D426E,E132D,E229K,E254D,E260K,G372R,I361T,I386V,K163R,K295N,L88Q,M620I,M620L,N228S,N296T,R139Q,R239W,R269H,R347W,R407Q,R407W,S463R,T416S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26146 4155 sw8258;dbsnp16900 TCP1L_HUMAN;NP_653260.1 "A199V,H145R,M168V,P124S,R194H,R198K,R90Q" "0,0,0,0,0,0,0" 140290 14312 sw8259;dbsnp3346 HCAR2_HUMAN;NP_808219.1 "A135T,F198L,G173A,G173S,M167L,M317I,M346V,N68S,P168L,P31L,Q187L,Q187R,R142W,R311C,T185I,T185S,T327M,V160I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338442 8853 sw825;dbsnp27388;dbsnp27390;hgmd0613_1077 FZD6_HUMAN;NP_001158087.1;NP_003497.2 "A182T,A329V,A388D,A664E,G604R,G635R,H140Y,L16V,M33L,M33V,M345L,Q152E,R405Q,R405W,R511C,R511H,S557F,S620T" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,1,1,0,0" 8323 4022 sw8260;dbsnp18503 OXER1_HUMAN;NP_683765.1 "A368V,G411D,I116T,I404T,L30P,L372I,L407V,M316L,M40I,N361K,P310L,P65S,Q365H,R251C,R280Q,R282C,S398F,T128M,T373M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 165140 8083 sw8261;dbsnp1739 GP152_HUMAN;NP_996880.1 "A314V,A346E,A463V,A51V,C318W,G61R,L158P,L317V,P322L,Q254K,R129C,R129H,R321W,T470M,V309M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390212 7202 sw8262;dbsnp13561 RL3R2_HUMAN;NP_871001.1 "L329S,P30L,R234W,R237Q,R317L,R317Q,T6N,Y309C" "0,0,0,0,0,0,0,0" 339403 9114 sw8263;dbsnp23549 GP151_HUMAN;NP_919227.2 "A140T,A144V,A3V,F23L,G316S,G341R,L106I,L261V,L42F,M201I,P207L,P40L,S219T,T395R,T97M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 134391 8174 sw8264;dbsnp18039 GP148_HUMAN;NP_997247.2 "A130T,A14G,C213S,F159S,I292T,L148V,P312S,R258Q,R323C,R323H,R325Q,R332Q,R76Q,T317P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 344561 9739 sw8265;dbsnp29975 GP119_HUMAN;NP_848566.1 "L236V,M208V,S309L,S322C" "0,0,0,0" 139760 10022 sw8266 LRC8C_HUMAN "D205G,M800I,N468S" "0,0,0" 84230 3186 sw8267;dbsnp13959 ST7L_HUMAN;NP_060214.2 "A455T,A68S,E99Q,G571C,G571D,H106R,I430V,L161F,P219L,P414L,R168G,R376M,R451Q,R4H,T327P,T489M,T70N,T87S,V13I,V291I,Y239C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54879 5338 sw8268;dbsnp29920;dbsnp29922 SYTL5_HUMAN;NP_620135.1;NP_001156807.1 "A445V,D365E,H413Y,I275V,I74F,N98S,P245S,R140Q,R160H,R302C,R302H,R702H,S369P,S53R,T316I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94122 3599 sw826;dbsnp23780 GDF9_HUMAN;NP_005251.1 "D57Y,K67E,P103S,P119L,P374L,P417L,R146C,R376S,R3C,R454C,R58G,S108N,S186Y,S363N,S428T,T121I,T238A,V216M,V402I,Y283C" "0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,1,1,0,0" 2661 7500 sw8270;dbsnp27753;dbsnp27754 CGAT1_HUMAN;NP_060841.5;NP_001123990.1 "A319V,D119V,E333G,E484Q,E488K,F473Y,I240V,L106P,L226F,R14W,R480H,R521P,R77Q,S193N,T205M,T261M,T370M,V137I,V28L,Y143C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55790 5962 sw8271;sws919;spmut1345;dbsnp15173 NEK7_HUMAN;NP_598001.1 "I275M,M8L,R35G,V285I" "0,0,0,0" 140609 9748 sw8272;dbsnp26104 PK1L1_HUMAN;NP_612152.1 "A1022V,A164T,A1650V,A1723T,A1723V,A2020T,A2053T,A2075V,A2082S,A2685T,A2793T,A344V,A460V,A824T,C2626R,D1823N,D812N,E1297K,E2219V,E2410K,F988L,G1421S,G1709R,G211R,G617S,G961S,H1720Y,H313R,H337Q,I1446N,I1647T,I669V,I800T,K1272E,K1607N,L1472V,L2603F,L403P,L653R,M2186T,M2713T,M414V,N398H,N970H,P1278L,P1278Q,P2021L,P2351L,P244L,P547L,P925L,Q2266L,Q2710H,Q759L,R1053P,R1138Q,R1347Q,R1697K,R1703H,R1922W,R2057H,R2281Q,R2317W,R2358C,R2394G,R2458Q,R256C,R2596L,R2711Q,R2711W,R303Q,R82Q,R874Q,R874W,R990Q,S1948P,S1949T,S2473F,S2569T,S889L,T1002P,T1683A,T2038S,T2182N,T879A,T985I,V312F,V670M,V894I,V906I,Y1159H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 168507 166 sw8273;sws920;dbsnp27915 RBCC1_HUMAN;NP_055596.3 "A55V,D221N,H1162Y,I294T,I351V,L934F,M1317I,M1451V,M234T,N1314K,P708L,R1216K,R474H,S1424F,T293A,V1588I,Y178F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9821 738 sw8274;dbsnp14037 ACTT2_HUMAN;NP_536356.3 "A23V,A49T,A6T,G247R,L225W,R77H,V184M,V213M,V86M,Y56H" "0,0,0,0,0,0,0,0,0,0" 140625 9042 sw8275;sws921;dbsnp14733 ASAP3_HUMAN;NP_060177.2 "A430V,A717D,E377A,E669K,E851K,G201E,G767R,I555M,I661V,L901S,P879L,P879Q,Q678K,T303M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55616 2601 sw8276;dbsnp6501 IGDC4_HUMAN;NP_066013.1 "A1190G,A444S,A52P,C1125Y,D243N,E635G,G396S,H82N,I174V,M454T,N301S,P101S,P1161L,P1239S,P739L,R580Q,R683H,R694Q,R840S,R936H,R980H,S803C,T1102A,T1222N,V137I,V196I,V423L,V45M,V837A,W1063L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57722 1278 sw8277;sws922;dbsnp24997 MICA1_HUMAN;NP_073602.3 "A108T,A12S,A12T,A624T,A758E,A758K,A758P,A758S,A758T,D153A,E937V,E948K,G220D,G714S,H122Q,H688N,K870E,L1040F,N494S,N495D,P327T,P825L,R1049C,R116H,R195G,R195H,R305Q,R335W,R408Q,R453C,R516H,R644L,R646Q,R723C,T367M,T899I,V223I,V632I,V863A,Y483S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64780 1831 sw8278 DERP6_HUMAN D303Y 0 23587 10505 sw8279;dbsnp14227 TS1R2_HUMAN;NP_689418.2 "A574T,A649T,A78V,A825T,D433N,D712N,E542K,G404D,H200R,I191V,I234V,I486V,I595T,K476T,L14V,L264M,M249I,P21L,P819L,R270H,R317G,R457Q,R674H,R838K,S212G,S464N,S9C,T629P,V297M,V650M,V656I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80834 2968 sw827;dbsnp11364 NMD3B_HUMAN;NP_619635.1 "A319T,A458T,A77T,A832E,A845T,D173E,E852K,E899K,G798S,I555S,I706V,L396S,M744T,P1039R,P154S,P736A,P737H,P737R,Q1006E,R246H,R404W,R598C,R606H,R610C,R630C,R643C,R816Q,S747L,T157M,T577M,T612A,W414R,Y966N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116444 1925 sw8280;dbsnp27899 S26A7_HUMAN;NP_439897.1 "E485V,F630V,I215V,I24T,I507V,L349F,M526I,R425Q,T521A,V115M,V134M,V381G,V455M,Y571S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115111 4451 sw8281;dbsnp6633 ATS17_HUMAN;NP_620688.2 "A551T,F439L,K183R,K719E,M482T,N1094S,P466L,P783L,Q155H,R181K,R566T,R614P,R864W,S216L,S430P,S717L,S724N,S813T,T446I,T561M,T983M,V898I,Y315F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 170691 1729 sw8282;dbsnp23109 ATS16_HUMAN;NP_620687.2 "A486T,D237N,E863K,F522L,G31E,G572V,G945R,H1203Q,M110V,N790S,P1118S,P211S,P90A,R100W,R789C,R859L,S1032F,S104P,V734I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 170690 1347 sw8283;sws923;dbsnp2367 ATS15_HUMAN;NP_620686.1 "A853T,E582G,G235S,G418R,G93R,K497N,N141S,N511S,N623S,P569T,P815S,R926Q,S772F,S80A,S810A,V536M,V832M,Y442H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 170689 2341 sw8284;sws924;dbsnp23502 ATS19_HUMAN;NP_598377.3 "A58T,E582G,F408L,M1093I,M263V,N550S,P216L,P546L,R32G,S367G,V549I,Y1089F" "0,0,0,0,0,0,0,0,0,0,0,0" 171019 1402 sw8285;sws925;dbsnp7634;hgmd0613_2481 ATS18_HUMAN;NP_955387.1 "A1058T,A946S,A985G,F392V,G1210R,G584R,I956M,K499R,K918E,L1088M,L626I,L769I,L794V,M847I,N469S,N639S,N826H,P114T,P218R,P265L,P834S,Q146H,R1009Q,R1014C,R1053W,R1097C,R1097H,R1097P,R213W,R222W,R827H,R827L,R830C,R873S,S1080R,S1159T,S179L,S660N,V1189I,V201I,V549A,V62I,Y191H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 170692 1347 sw8287;dbsnp10771 ES8L1_HUMAN;NP_573441.2 "A172V,A4T,C485S,D50N,D89N,E475V,G208D,G361R,K669R,L703P,P343L,Q457E,R288G,S692L,V706A,Y684H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54869 3854 sw8289;dbsnp29884 MORC4_HUMAN;NP_078933.3 "A724T,A822V,N326S,P419L,R280C,R355H,R653C,T473I,V489F" "0,0,0,0,0,0,0,0,0" 79710 2400 sw8290;dbsnp1734 SSH3_HUMAN;NP_060327.3 "A277T,A421V,D142N,E239V,G263R,G264R,P390L,R529W,R600H,R642Q,T247M,T65I,T79R,V493A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54961 4493 sw8291;sws926 S3TC1_HUMAN "D291N,L437P,R785C" "0,0,0" 54436 1093 sw8292;dbsnp13034 GRHL3_HUMAN;NP_937817.3 "A267G,D511N,D55E,E566K,M595K,N462S,N484S,P149S,P187L,P455A,P480H,R11Q,R191H,R387C,R490H,R573H,S477L,T454M,V160A,V261I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57822 4836 sw8293;sws927 TBCK_HUMAN "D265N,K489N,Q266E,R66L" "0,0,0,0" 93627 2650 sw8294;dbsnp5753;dbsnp5755 DCA11_HUMAN;NP_001156956.1;NP_079506.3 "A126P,A126T,D240A,D469N,G19D,N107S,R133Q,R207C,R207H,V221I,V489I" "0,0,0,0,0,0,0,0,0,0,0" 80344 5898 sw8296;spmut1927 SH3R2_HUMAN "F16S,F174V,G710A,R267C,R477Q,V687I,W592R" "0,0,0,0,0,0,0" 153769 3790 sw8297;dbsnp23684 UTP15_HUMAN;NP_115551.2 "A172V,E37K,I351M,L297F,L381V,P328S,R332S,R433K,S173G,T31N,T483P,V306I,Y228H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84135 6345 sw8298;dbsnp23053 GPX8_HUMAN;NP_001008398.2 K182R 0 493869 12766 sw8299;dbsnp2112 SPX2_HUMAN;NP_001138762.1 "A284T,A34V,D252E,G268S,I96V,R115H,R293Q,R49C,S125G,V220I,V490L" "0,0,0,0,0,0,0,0,0,0,0" 219855 6568 sw829;dbsnp11227 O10H2_HUMAN;NP_039227.1 "D121N,D225A,D225N,G199S,H6Y,I215V,L40Q,M1L,R131C,R139Q,R80H,R90H,S171F,T273N,V300F,V65A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26538 10444 sw8300;spmut532 DOT1L_HUMAN "G1386S,L726M,V1418L" "0,0,0" 84444 600 sw8301;dbsnp19965 PO210_HUMAN;NP_079199.2 "A1461T,A167V,A297T,A755V,A944P,D1430E,D831H,E1294D,E293K,G1052S,G1093R,G1136S,G1252R,G835S,I437L,I437V,I608V,L1466V,L1752S,M1096I,P1234L,P290L,P453L,P821A,P879S,R1173C,R1173H,R1217W,R1528W,R1556M,R1790H,R1835Q,R786L,R872K,S1420G,S1467L,T1054S,T419M,T853A,V1367A,V1717I,V1772M,V1787M,V629I,V964A,Y998H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23225 499 sw8303;dbsnp23225 GEMI5_HUMAN;NP_056280.2 "A1065V,A1072T,A601V,D1256N,E1153A,E1350K,E1450G,G1103E,K835R,L1114V,L1276V,L734F,L81F,P1155S,P594R,Q463P,Q509H,R1016C,R1129K,R319G,R682Q,R719Q,S1137P,S1430A,S48C,S543G,S604F,S757L,S859Y,T712I,V167L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25929 812 sw8304;dbsnp18399 SNED1_HUMAN;NP_001073906.1 "A1096T,A1362S,A786T,H1299R,L1228P,N977Y,R1214L,R1289Q,R879H,V1100M,V312M,Y976F" "0,0,0,0,0,0,0,0,0,0,0,0" 25992 961 sw8305;dbsnp5469 ARH40_HUMAN;NP_060541.3 "A1416T,A221V,A829T,D582H,E1295K,E764D,G358E,K293E,K61R,L1189S,L1402F,M1312T,P1188H,P1485H,P402S,P491S,R101C,R1062Q,R1244Q,R1419Q,R1447C,R1498Q,R1505Q,R185Q,R284Q,R685C,R823Q,R834C,R834H,R839Q,T1418P,V1108L,V956L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55701 802 sw8306 FBF1_HUMAN "C574S,G65V,P371S,R151G" "0,0,0,0" 85302 1611 sw8307;dbsnp6635 GANC_HUMAN;NP_937784.2 "D443E,D53G,E88K,F222Y,F845S,G880D,H851N,I153M,I166V,I610V,I769N,K238Q,K26R,K441R,L11V,M711T,P473L,P91S,Q186K,Q44R,Q848R,R571C,R643C,R664Q,S288L,S427N,T184S,V109I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2595 2529 sw8308;dbsnp23148 RPGF6_HUMAN;NP_057424.3 "A594P,D1290N,D1441G,D1470V,D1593Y,E863G,I1353V,I765V,L1328V,L309I,L48V,N1557S,Q1452R,R538C,R713K,S162T,S570A,S974T,T1442M,V1559E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51735 724 sw8309;dbsnp9345 WFKN2_HUMAN;NP_783165.1 "A18V,I38V,L25M,M375V,P210H,P324L,R256Q,R31Q,R8P,R8Q,S199F,V233M,V455I,V96M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 124857 5469 sw830;dbsnp11238 O10H3_HUMAN;NP_039226.1 "C308F,F36S,F36Y,I216N,L131Q,L14I,L262F,R140L,R236Q,R236W,R54H,R7S,S293N,V224M,V244I,Y121C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26532 10444 sw8310;dbsnp8849 SMCR8_HUMAN;NP_658988.2 "C586R,G553E,G593C,H163R,I389V,N636S,P108S,P36H,P524L,P548L,P654L,Q333R,Q364P,R556H,R805S,S667I,S672A,V383M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140775 2401 sw8311;spmut1468;dbsnp211 PARD3_HUMAN;NP_062565.2 "A937V,D575N,E107D,G1100R,I415T,K1013R,L1020F,N452D,N922S,P427S,R1003S,R1053T,R1173C,R1173H,R1174Q,R496P,S292T,S417F,S428L,S474T,S801N,T1190M,T401M,V1101I,Y1244C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56288 1059 sw8312 PAR3L_HUMAN Q295K 0 117583 1403 sw8313;dbsnp5805 IPO4_HUMAN;NP_078934.3 "A414V,A513V,A964T,H131Y,P580A,R20C,R369H,R899Q" "0,0,0,0,0,0,0,0" 79711 1782 sw8314;spmut421;dbsnp14403;dbsnp14404;dbsnp14405 CR3L4_HUMAN;NP_570968.1;NP_001242907.1;NP_001242908.1 "A231T,D2N,E265D,G331R,G384R,M111T,N366S,P102L,P35L,P95S,R124K,R387Q,R387W,S388T,S92Y,V351L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148327 8686 sw8315;dbsnp10292 PP4R1_HUMAN;NP_001035847.1 "E43K,H644Y,I470V,Q360P,S593N,S595N,V523I,Y898C" "0,0,0,0,0,0,0,0" 9989 2342 sw8316;dbsnp22768 CX7B2_HUMAN;NP_570972.2 "H27Q,T57I" "0,0" 170712 14818 sw8317 DLRB2_HUMAN H14R 0 83657 14713 sw8319;dbsnp10885 ANR24_HUMAN;NP_597732.1 "A111T,A287V,A66T,D209N,E585K,G558R,K600E,M475I,P240L,R349Q,S684A,T592A,T785S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 170961 1566 sw831;dbsnp11762 OR7C2_HUMAN;NP_036509.1 "G41V,I221T,K294R,Q100H,R122H,S309F,T118M,V225I" "0,0,0,0,0,0,0,0" 26658 10269 sw8320;dbsnp410 AGA11_HUMAN;NP_597704.1 "D387V,E66A,I217V,I431V,I82V,R432G,S320A,T290M,Y31H" "0,0,0,0,0,0,0,0,0" 119385 4207 sw8321;spmut2371;dbsnp6693 WHAMM_HUMAN;NP_001073904.1 "E280K,H736P,H736Q,I205N,I504K,N212S,P588L,Q340K,R345Q,R686H,R698C,V234M" "0,0,0,0,0,0,0,0,0,0,0,0" 123720 3148 sw8322;dbsnp12028 ZN431_HUMAN;NP_597730.2 "A149T,C214F,D3G,K361T,K503R,N498D" "0,0,0,0,0,0" 170959 1203 sw8323 FNIP1_HUMAN G76C 0 96459 1510 sw8324;dbsnp2561 UBS3B_HUMAN;NP_116262.2 "A68T,G380S,I365V,N569S,T341M,V22I,V22L" "0,0,0,0,0,0,0" 84959 4600 sw8325;spmut510;dbsnp6683 DI3L1_HUMAN;NP_001137160.1 "D614G,D790H,D916E,E327G,E872K,E970D,G422E,I143R,I417T,I518V,I967V,L473V,M861I,N747S,R242H,R721Q,R759H,R873C,R928Q,S767L,S994N,V603I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115752 1877 sw8326;dbsnp11614;hgmd0613_2256 ZN526_HUMAN;NP_597701.1 "A427V,F556L,G258S,G414R,G661R,P189L,P298L,P609T,R352Q,R583H,S511F,T35A,T565A,V670M,V94A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116115 4367 sw8327;dbsnp6632 AT8B4_HUMAN;NP_079113.2 "A796T,A882S,C1174Y,C874R,F327S,F436L,G395S,G814V,H452N,I297V,I813T,K1175E,L535F,L946P,N1165K,N225S,P371H,Q1051L,Q441R,R1059Q,R1121C,R13Q,R20G,R953H,R9H,S105N,T784S,T884I,V1008E,V1190G,Y964F,Y991H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79895 1350 sw8328;dbsnp23111 DCNP1_HUMAN;NP_570900.1 "F171L,K119R,K74E,L153V,L26Q,L81V,N97D,R196H,R238G,S135C,S99P,T75P,V143F,V242M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140947 12034 sw8329;dbsnp12580;hgmd0613_2253 GIPC3_HUMAN;NP_573568.1 "A274V,G256D,G46R,G94D,L262R,M88I,R147Q,R189C,T221I,V286I" "0,1,1,1,1,1,0,1,1,0" 126326 10078 sw832;dbsnp11695 AT8B3_HUMAN;NP_620168.1 "A213T,G45R,H1256P,N1262H,R1257H,R641C,R724W,R865L,V1092I,V1169I,V249I,V618I" "0,0,0,0,0,0,0,0,0,0,0,0" 148229 1166 sw833 FADS1_HUMAN P272S 0 3992 6644 sw8330;dbsnp13033 GIPC2_HUMAN;NP_060125.4 "E115G,E188K,L206P,S61F" "0,0,0,0" 54810 10078 sw8331;dbsnp20944 LRC15_HUMAN;NP_570843.2 "A550T,A81T,D410N,E480K,G123C,P286L,Q141K,R317C,R326S,R435H,R83K,S483R,V264I,V471I,V502I,W299R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 131578 5316 sw8332;dbsnp25273 MOT10_HUMAN;NP_061063.2 "D106N,I287V,K508Q,V457I" "0,0,0,0" 117247 4988 sw8333;dbsnp21740 SHRM3_HUMAN;NP_065910.3 "A1557V,A512T,D1506E,D174N,E1507K,E564A,F1617S,G1593S,G1864D,G186R,G279A,G60V,H207Y,H274Y,H601Y,I1883T,L147H,M1585K,N1972D,N80Y,N850S,P1290L,P1464S,P469A,Q1558P,Q1623K,Q770H,Q793P,R1375G,R1430Q,R153C,R314Q,R352Q,R414W,R718Q,R944P,S1118N,S195T,S325A,S367R,S821Y,T1481P,V1054L,V106L,V1620I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57619 427 sw8334;spmut841;dbsnp8604 HASP_HUMAN;NP_114171.2 "A261T,G204D,G283S,I328T,K483I,M706V,N422D,Q301L,R145H,R310W,R326S,R355C,R486L,R82C,S337T,S418P,S453P,T764S,V378A,V76E,Y739H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83903 3226 sw8335;dbsnp6672 AEN_HUMAN;NP_073604.3 "C110Y,C284Y,G100R,G89S,N140D,P15L,R279C,R27Q,R29G,R4Q,S280T,S88C,V172L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64782 10271 sw8336 D104A_HUMAN I10V 0 503618 14866 sw8337;dbsnp7988 CP078_HUMAN;NP_653203.1 "E199K,G121D,G43R,H115R,M194V,P244T,R104Q,R152Q,R175S,R188C,R227Q,R27H,R78Q" "0,0,0,0,0,0,0,0,0,0,0,0,0" 123970 11585 sw8338;sws929;spmut809;dbsnp21037 GRK7_HUMAN;NP_631948.1 "A84E,C113W,C134Y,D402N,D72Y,E309Q,E443G,G328S,I65V,L158F,P460T,R226W,R292Q,R461C,R81H,S115C,S127T,V196G,V196M,V313I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 131890 5796 sw8339;dbsnp19095 DUS19_HUMAN;NP_543152.1 "G67R,H41R,K91E,S108G,S216R,Y100F" "0,0,0,0,0,0" 142679 12588 sw8340;dbsnp1465 GDPD5_HUMAN;NP_110419.5 "A251V,A419T,A480T,M299L,M299V,R369H,R540H,R544Q,V546I,V65I" "0,0,0,0,0,0,0,0,0,0" 81544 5077 sw8341;dbsnp11832;dbsnp11833 ZN473_HUMAN;NP_056243.1;NP_001006657.1 "A115T,A627V,E309G,E811Q,G24R,H657R,N172D,N82S,P256L,P645A,P701L,R223C,R223H,R248Q,R694Q,R777W,S163T,S535N,S59G,S662A,S74G,T164M,T654I,V588M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25888 2763 sw8343;dbsnp497 NOC3L_HUMAN;NP_071896.8 "A342T,A595V,A695T,E415K,E45G,E472A,E479K,E751G,F791S,H800R,I161V,K658T,M370I,N747S,P119A,P194L,P229T,P444R,P67S,Q46K,R125Q,R43Q,R504I,T655S,Y134C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64318 3214 sw8344;dbsnp2193 DDI1_HUMAN;NP_001001711.1 "D323N,D381E,E378G,G103A,G136S,G239E,G252R,L321P,N228T,R208G,R393Q,R87C,S142G,S380L,S63A,T242M,V42I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 414301 8612 sw8345;dbsnp26430 SRB4D_HUMAN;NP_542782.1 "A47T,D307Y,L41P,P293S,P314S,R128H,R462W,R467Q,R505Q,T178M,T295A,V89L,V94I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 136853 5487 sw8346 SCRB1_HUMAN "C511R,G167S" "0,0" 949 5808 sw8347;dbsnp8730 COG1_HUMAN;NP_061184.1 "A183P,A20P,E453Q,G378R,I177V,M357L,N392S,P967R,Q301H,R383Q,R571Q,R805G,R805W,S134L,T350M,V259L,Y744C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9382 2183 sw8348;dbsnp8050 ZDHC1_HUMAN;NP_037436.1 "D352N,P464A,R124Q,S114N,V236M" "0,0,0,0,0" 29800 6914 sw8349;dbsnp2396 GLYL2_HUMAN;NP_659453.3 "E160K,K84I,L13P,L168I,P290L,P82S,R58Q" "0,0,0,0,0,0,0" 219970 11006 sw834;dbsnp11733 OR1I1_HUMAN;NP_001004713.1 "D191G,E8K,F211L,G189C,G302R,H244Y,I282F,I292T,I50F,L14F,M163L,P139R,P139S,P342T,R122H,R131H,R220H,S264T,V206L,V78I,Y252S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126370 9535 sw835 PEPL_HUMAN "A1007V,A572S,E1199Q,E891Q,G1754R,H631Y,Q1573E,R520Q,R589Q,R819S" "0,0,0,0,0,0,0,0,0,0" 5493 581 sw8350;sws930;dbsnp23853 ST32A_HUMAN;NP_001106195.1 K58M 0 202374 6899 sw8351;dbsnp4251;dbsnp4252 FRS2_HUMAN;NP_006645.3;NP_001036020.1 "E236K,K303N,N449D" "0,0,0" 10818 6508 sw8352;dbsnp9646;dbsnp9647 F222B_HUMAN;NP_060652.2;NP_001070966.1 "A380T,D29E,G542S,L471S,R122Q" "0,0,0,0,0" 55731 5655 sw8353;dbsnp10560 ABHD3_HUMAN;NP_612213.2 "D319G,D71E,R3C,S12Y,T131M,Y18F" "0,0,0,0,0,0" 171586 8408 sw8354;dbsnp22160 SCFD2_HUMAN;NP_689753.2 "A313V,A366V,A647P,G13A,G283V,I439V,L169M,L512S,L80P,M308T,N252S,N371K,P157S,R617Q,S224N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152579 4231 sw8355;dbsnp14945 SMAP2_HUMAN;NP_073570.1 "A289T,G319A,G375R,R126Q" "0,0,0,0" 64744 7964 sw8356;dbsnp19719 ZC3HF_HUMAN;NP_060941.2 "D268N,Q55H,R340K,T408P,V342E" "0,0,0,0,0" 55854 8016 sw8357;dbsnp1698;dbsnp1699 TSK_HUMAN;NP_056331.2;NP_001245139.1 "D344E,G180S,P4A,R208C,R251H,R41Q,S112L,S248N,T60A,V162L,V308I" "0,0,0,0,0,0,0,0,0,0,0" 25987 9587 sw8358;dbsnp4291 F216A_HUMAN;NP_037432.2 "R154H,R158H,R225G" "0,0,0" 29902 11412 sw8359;dbsnp5968 RAB2B_HUMAN;NP_116235.2 N212T 0 84932 12581 sw8360;dbsnp3841 CHPT1_HUMAN;NP_064629.2 "D132E,E347K,F162S,G333V,P228L,Y323S" "0,0,0,0,0,0" 56994 8262 sw8361;dbsnp23702 F172A_HUMAN;NP_114431.2 "I272V,S131N" "0,0" 83989 8258 sw8362;dbsnp18470;dbsnp18471 TGFA1_HUMAN;NP_004248.2;NP_001136093.1 "A262T,A734D,A745T,A845T,D265N,H725R,H72Y,H842Q,P210L,R83H,T301R,T8M" "0,0,0,0,0,0,0,0,0,0,0,0" 9392 2832 sw8364;sws934;dbsnp13005 NU133_HUMAN;NP_060700.2 "A199T,E556V,F200S,G1033D,G854D,H950Y,I244M,I294V,M634L,P461L,Q406R,R314K,R61Q,R962H,S152N,S189R,S399F,T106P,T698A,T879A,W904L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55746 1536 sw8365;spmut1487;dbsnp20144 PDC6I_HUMAN;NP_037506.2 "A309T,A719T,A773P,G429S,G778A,K638E,M819V,N550S,P774A,S730L,T432I,V378I" "0,0,0,0,0,0,0,0,0,0,0,0" 10015 2754 sw8366;dbsnp23700 UBTD2_HUMAN;NP_689490.2 M129I 0 92181 12254 sw8368;dbsnp7672 D42E1_HUMAN;NP_660151.2 "D215N,D2N,G320D,K96E,L143V,L385M,N91S,P185L,R87Q,S10T" "0,0,0,0,0,0,0,0,0,0" 93517 8727 sw8369;dbsnp16212 LRRN4_HUMAN;NP_689824.2 "A270T,A703V,D259G,D730N,G347D,H97Y,L148F,P138L,Q403H,R380C,R458Q,R648H,R708L,S451G,T141A,V412M,Y549N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 164312 3696 sw836;dbsnp25999;dbsnp26000 DFNA5_HUMAN;NP_004394.1;NP_001120925.1 "A288E,A288V,A400V,C371G,D312N,D398N,D60G,F445Y,G220S,G373D,I275V,M174T,P142T,V13G,V207M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1687 6723 sw8370;dbsnp29882 S2543_HUMAN;NP_660348.2 "G264E,I110V,P334L,R254W,T270I" "0,0,0,0,0" 203427 9877 sw8371;dbsnp26781;hgmd0613_1987 GATD1_HUMAN;NP_066990.3 "G54S,P257L,R233W" "0,0,0" 57798 11506 sw8372;dbsnp30174 S38A5_HUMAN;NP_277053.2 "D15G,M327L,M451T,V296M" "0,0,0,0" 92745 6548 sw8373;dbsnp19474 CHAC2_HUMAN;NP_001008708.1 "F104C,G177R,I152V,L9P,R82G,T112I,W33R" "0,0,0,0,0,0,0" 494143 13284 sw8374;dbsnp27822 THEM6_HUMAN;NP_057731.1 "E93Q,G200R,P51S,T121N" "0,0,0,0" 51337 12785 sw8375;dbsnp23746 DEP1B_HUMAN;NP_060839.2 "E95K,L23V,R332M,R362C,R36H,R433H,V209I,V395L" "0,0,0,0,0,0,0,0" 55789 6151 sw8376;dbsnp2805 ORAV1_HUMAN;NP_703152.1 "G3S,R17K" "0,0" 220064 14132 sw8377;dbsnp5695 DCAF4_HUMAN;NP_056419.2 "Q7H,R35Q,R35W,R439I,W22C" "0,0,0,0,0" 26094 6746 sw8378;dbsnp25189 SFT2A_HUMAN;NP_660152.1 "I109V,N31K,V22I" "0,0,0" 113402 13730 sw8379;dbsnp7751 NSE1_HUMAN;NP_659547.2 "N47S,S62R,T38R" "0,0,0" 197370 11563 sw837;dbsnp13835 EVI5_HUMAN;NP_005656.4 "A337G,C709W,D82V,H542R,I336V,I343T,Q612H,Q681P,Q691R,R651K,S181N,S630R,S73F,T420M,T547A,V772A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7813 3142 sw838 LY75_HUMAN "D692N,D807E,D884A,E268D,K1321N,K1347R,K486M,T1202S,T1393I,V666A,W20R,Y1391H" "0,0,0,0,0,0,0,0,0,0,0,0" 4065 508 sw8380;dbsnp7631;dbsnp7632 LRC29_HUMAN;NP_001004055.1;NP_036295.1 "A132V,G117S,I173T,L165P,R138Q,R14G,R19Q,R212H,R75Q" "0,0,0,0,0,0,0,0,0" 26231 12475 sw8381;sws935;dbsnp12008 ZN480_HUMAN;NP_653285.2 "C151Y,D72G,G237S,M56V,P177S,P202R,Q362E,R199T,R242H,S163F" "0,0,0,0,0,0,0,0,0,0" 147657 5100 sw8382;spmut2214;dbsnp23284 TRI41_HUMAN;NP_291027.3 R589H 0 90933 4800 sw8383;dbsnp28543 CC107_HUMAN;NP_777583.2 "A118G,A171V,E136D,I220V,M151T,R137C,S190F,S242C" "0,0,0,0,0,0,0,0" 203260 11222 sw8384 HEXDC_HUMAN H232Y 0 284004 5343 sw8385;dbsnp7562 CTF18_HUMAN;NP_071375.1 "A276V,A466S,A745T,C763S,E116K,E233K,F286L,G439R,K244R,P266L,P928L,Q82P,R101Q,R164H,S63F,V178I,V186G,V577M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63922 2210 sw8386;dbsnp10020;dbsnp10021 DCAKD_HUMAN;NP_079095.3;NP_001122103.1 "A214T,N84I,R105W,R108C,R137W,R147W,R152H,R170L,R187C,R47L" "0,0,0,0,0,0,0,0,0,0" 79877 12307 sw8387;dbsnp10483 RN138_HUMAN;NP_057355.2 "E3D,K81R" "0,0" 51444 12008 sw8388;dbsnp5356 N6MT2_HUMAN;NP_777588.1 "A140T,D7N,T193N" "0,0,0" 221143 12652 sw8389;dbsnp23080 TM171_HUMAN;NP_775761.4 "A141V,D274E,F23L,L246P,N139I,N139K,P316H,R86G,R86L,R99G,V236I,V68M" "0,0,0,0,0,0,0,0,0,0,0,0" 134285 10298 sw839 NRP2_HUMAN "E602K,R123K" "0,0" 8828 2423 sw8390 OSCP1_HUMAN "K242E,P31R" "0,0" 127700 8818 sw8391;dbsnp19739 SNR27_HUMAN;NP_006848.1 "R86W,S114F,T81I" "0,0,0" 11017 13817 sw8392;dbsnp21060 STAG1_HUMAN;NP_005853.2 "I115V,Q1132H" "0,0" 10274 1237 sw8393;dbsnp5437 SCFD1_HUMAN;NP_057190.2 "G366R,I619L,I70T,K63R,L240I,T433A,Y348H" "0,0,0,0,0,0,0" 23256 4673 sw8394 TP8L1_HUMAN A118V 0 126282 11042 sw8395;dbsnp26454 LMBR1_HUMAN;NP_071903.2 "E6K,L467V,R421S,T228A" "0,0,0,0" 64327 6842 sw8397;dbsnp27105 CG043_HUMAN;NP_060745.3 "E205K,F202L,G328E,Q416H,R295H,V184I" "0,0,0,0,0,0" 55262 5407 sw8398;dbsnp26308 WDR60_HUMAN;NP_060521.4 "A314V,D498G,E91G,G348E,I799V,N225K,P923Q,Q273R,R489G,T889I" "0,0,0,0,0,0,0,0,0,0" 55112 1834 sw8399;sws936;dbsnp19006 TPC12_HUMAN;NP_057114.5 "A145T,A365T,D212Y,E25V,E49K,F227S,G412S,G415E,G587C,G587S,I482T,I537V,R146H,R641S,S301G,S570L,T421M,T529I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51112 3742 sw83;dbsnp9201 EFCB5_HUMAN;NP_940931.2 "A1120S,A1145D,C396G,C800F,D1488Y,D176E,D462E,E1301K,E837K,F1004V,G1271S,G621A,G993R,K278I,L237V,M1I,Q481E,R1256C,R1256H,R1274T,R268T,R429Q,R561S,R979Q,S883N,T1123N,T1176A,T1480A,T181A,T771I,V1252A,V312I,V401G,V943G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374786 818 sw8400;dbsnp29589 POF1B_HUMAN;NP_079197.3 "C239S,C444Y,E250K,E296A,E372G,E50D,E566K,H29N,I113V,I298T,M323V,M349L,N458S,P207S,Q214R,Q313H,Q38P,Q434K,Q64R,R315C,R329Q,T105A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0" 79983 5283 sw8401;dbsnp25268;dbsnp25270 BT2A2_HUMAN;NP_001184166.1;NP_008926.2 "A192S,A192T,A336T,A4V,E434D,G203S,H337Q,H382L,K513T,M392I,M506T,P39A,P479S,R109K,R428W,R97Q,S267A,S432T,V270L,V37M,V393E,Y460C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10385 5325 sw8402;dbsnp22617 CD003_HUMAN;NP_001001701.2 "F28L,P32H,R17Q" "0,0,0" 401152 12994 sw8403;dbsnp2566 FACR1_HUMAN;NP_115604.1 "E96K,F507S,I466K,R480C,T264I,V59I" "0,0,0,0,0,0" 84188 6393 sw8404;dbsnp20975 ZDH19_HUMAN;NP_001034706.1 "C165Y,G307R,G66A,H106Q,K227R,P96L" "0,0,0,0,0,0" 131540 10668 sw8405;dbsnp13223 SEN15_HUMAN;NP_443197.1 "D134G,G19D,Q59H" "0,0,0" 116461 13527 sw8407;dbsnp9221 CQ050_HUMAN;NP_660315.2 "D22E,E138R,R63H" "0,0,0" 146853 13475 sw8408;sws937;dbsnp18213 TEKT4_HUMAN;NP_653306.1 "A129V,A246T,A256S,A262D,A287T,A325V,A386G,A386V,D359E,D359N,D359Y,D60N,E259K,E385Q,K102N,L366V,L376I,M109V,M374K,M374T,N373Y,N409K,Q65E,R107H,R107P,R193G,R19H,R245W,R255C,R260H,R267W,R275H,R282G,R294H,R315Q,R351W,R358G,R391C,R424C,R59C,R59S,R64W,R82C,R82G,R94Q,S100G,S349L,T181N,T198I,T21M,T74A,T83M,T90R,V324M,V340I,Y304H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150483 7861 sw8409;dbsnp13371 ABEC4_HUMAN;NP_982279.1 "D300G,F154L,F271S,F351L,I4M,I92V,K331E,N321D,P275S,S196C,S75F,T88S,V210A,V345M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 403314 9257 sw840;dbsnp17022 DSCAM_HUMAN;NP_001380.2 "D1720Y,D232E,I1338M,R234H,T1507I" "0,0,0,0,0" 1826 372 sw8410;dbsnp12898 HMGB4_HUMAN;NP_660206.2 "D136E,E92A,K59R,L102I,N115K,P93L,S46L,V36A,Y170H" "0,0,0,0,0,0,0,0,0" 127540 13242 sw8412;dbsnp6456 APH1B_HUMAN;NP_112591.2 "F217L,R255C,T27A,T27I,V199L" "0,0,0,0,0" 83464 11765 sw8413;dbsnp13405 F151A_HUMAN;NP_788954.2 "A416V,A419T,A84V,D51N,E343D,E343G,G339C,G339S,G526A,G546D,I119T,I19V,K79N,M497T,N87D,N89K,P335A,R158Q,R241S,R527T,R534G,R64Q,R65Q,S281L,S453L,T217P,T324M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338094 5334 sw8414 SPRY4_HUMAN M50T 0 283377 12809 sw8415;spmut1003;dbsnp12887 ITLN1_HUMAN;NP_060095.2 "F52S,G76V,N154S,P205L,Q188H,R170H,R313P,R59L,S102G,V109D,Y312H" "0,0,0,0,0,0,0,0,0,0,0" 55600 10272 sw8417;dbsnp13421 NCUG1_HUMAN;NP_653181.1 "D154N,D154Y,I223V,M384T,N187S,P203S,P245L,R228Q,V94I" "0,0,0,0,0,0,0,0,0" 112770 8462 sw8418;dbsnp18408 CB047_HUMAN;NP_078796.2 "A62V,G114V,L290I,R283Q,R72W,T184I" "0,0,0,0,0,0" 79568 11071 sw8419;dbsnp26429 CG045_HUMAN;NP_660311.1 "A211V,P222L,Q140E,Q183L,R215Q,R88Q,R88W,S167T,T206P" "0,0,0,0,0,0,0,0,0" 136263 12035 sw841;sws95;dbsnp28556 DBC1_HUMAN;NP_055433.2 "A437T,G684S,G713R,M293V,N292S,R316H,R358H,R411Q,R411W,R424H,R607Q,R620H,S347R,S545F,S641L,T221M,T349M,T419P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1620 3331 sw8420;dbsnp11366 ZNRF4_HUMAN;NP_859061.3 "A118V,A157S,D192N,E146K,P37S,R163C,R163H,R78Q,S14T,V100I,V159A,V251M" "0,0,0,0,0,0,0,0,0,0,0,0" 148066 7965 sw8421;dbsnp19189 DNJB3_HUMAN;NP_001001394.1 "D63Y,D85E,D98E" "0,0,0" 414061 10238 sw8422;dbsnp23167;dbsnp23168 CAPSL_HUMAN;NP_653248.3;NP_001036090.1 "F120V,G37S,I199V,M201V,R85Q,W206C" "0,0,0,0,0,0" 133690 12786 sw8423;dbsnp19041 KCNE4_HUMAN;NP_542402.2 "D145E,E141A,G47S,R78W" "0,0,0,0" 23704 13538 sw8424;dbsnp26033 ASZ1_HUMAN;NP_570124.1 "F461L,K216T,K36E,L302I,Q334L,R32Q,R96Q,T187M" "0,0,0,0,0,0,0,0" 136991 7108 sw8425;dbsnp594 TRUB1_HUMAN;NP_631908.1 "E103A,I152T,K58T,N271S,Q239H,R167K,T284M,V44L" "0,0,0,0,0,0,0,0" 142940 9686 sw8427;dbsnp28766 CTL1_HUMAN;NP_536856.2 "A602G,D419V,I436V,P146S,P30S,R105Q,R313C,S644A,T193A,T361S,T502A" "0,0,0,0,0,0,0,0,0,0,0" 23446 4510 sw8428;dbsnp5093 CKAP2_HUMAN;NP_001091995.1 "E441K,E518K,H261Y,H500Y,I323V,L314P,L658F,M236K,N111S,N278D,N387D,P128T,P174A,P174S,P439L,P476S,V503I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26586 4247 sw8429;sws939;dbsnp29880 CCNB3_HUMAN;NP_149020.2 "E1005G,E1176D,E264K,E324D,E959A,G1001R,G1001V,H298R,I991V,K846R,K857Q,R1266H,R1270K,R1283H,R876Q,S1120N,S188T,S717G,T97I,T995N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85417 986 sw8430;sws940;dbsnp23112 ARAP3_HUMAN;NP_071926.4 "A51T,A677T,D218H,E1310K,E67K,G162S,G573R,G762E,H1072Y,H1325Y,I1169M,K1443N,M318I,M400I,P1475L,P185H,P840S,P843R,R1029C,R1177Q,R1343H,R1478Q,R285H,R37W,R599H,R995Q,S222G,S269T,T1290A,T1362I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64411 781 sw8431;dbsnp24535 ICEF1_HUMAN;NP_056368.1 "A230T,A410V,P170S,S184P,S194P" "0,0,0,0,0" 26034 7810 sw8432;sws941;dbsnp26494 GIMA1_HUMAN;NP_570115.1 "R254S,R64K,S89P,T27M,V166M,W73S" "0,0,0,0,0,0" 170575 6460 sw8433;sws942 PHIP_HUMAN "L1093P,N1445T,T1135P,T874I,V663G" "0,0,0,0,0" 55023 298 sw8434;dbsnp655;hgmd0613_1997 HPSE2_HUMAN;NP_068600.4 "A299T,A315T,P468L,R341Q,R352H,V540L,Y211H,Y579F" "0,0,0,0,0,0,0,0" 60495 5243 sw8435;dbsnp3589 STAB2_HUMAN;NP_060034.9 "A1244S,A1244T,A1665T,A1680P,A250V,D1771N,D178N,D2021N,E1006K,E1809Q,E2123K,E2377K,E306K,F2387L,G1597S,G2461E,G675D,G817S,I110V,I591N,K507N,K941R,L1411F,L2401V,M1218V,M611V,N1736T,N2222K,N691D,P2039T,P2170S,P237S,P2449S,P510H,P510R,R1012L,R1012Q,R104C,R104H,R1132H,R1132L,R1200Q,R1200W,R1596C,R2340P,R243Q,R787Q,R881H,S1035P,T2034M,T2052M,T2399M,T2535M,T253M,T411A,V1198I,V2453M,V587I,V896M,Y1172H,Y2519S,Y432S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55576 226 sw8436;dbsnp18954;dbsnp18955;dbsnp18956 NEUR4_HUMAN;NP_001161074.1;NP_001161073.1;NP_001161072.1 "E144K,G301R,G431R,L461P,P303T,P32H,R192Q,R219C,V181M" "0,0,0,0,0,0,0,0,0" 129807 6720 sw8438;dbsnp14243 ITLN2_HUMAN;NP_543154.1 "A177T,A297T,H61P,I198N,N260S,Q171R,R103H,R71H,S143N,S168P,Y202C" "0,0,0,0,0,0,0,0,0,0,0" 142683 10272 sw8439;dbsnp30178 GAB3_HUMAN;NP_542179.1 "E508K,M38L,P237S,S519T,V85M" "0,0,0,0,0" 139716 5318 sw843;dbsnp3378 PLXC1_HUMAN;NP_005752.1 "A564T,C1217R,D1045E,E1499K,E494Q,F1382Y,I439V,K549R,M1262V,N1047S,P360L,P754T,R543W,R554Q,R614S,S369Y,T1072P,T590A,V1529I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10154 761 sw8442;dbsnp11513 MB3L1_HUMAN;NP_660209.2 "E188G,E56Q,G21R,K145T,P120S,P44S,R190C,S99N,T163A,V149I" "0,0,0,0,0,0,0,0,0,0" 85509 13097 sw8444;dbsnp18818;dbsnp18819 IL1FA_HUMAN;NP_115945.4;NP_775184.1 "A51D,I11R,I44T,R23K,R98C" "0,0,0,0,0" 84639 13881 sw8445;dbsnp13193;hgmd0613_2321 EDAD_HUMAN;NP_665860.2 "D114Y,E152K,L122R,M9I,S103F" "1,1,1,0,0" 128178 12637 sw8446;dbsnp9233 ABCAA_HUMAN;NP_525021.3 "A1472T,D677V,E1168K,G1022D,G715V,H372P,H73P,I287V,I783T,K1281N,L1348V,L85V,L971V,M916T,N944S,P203S,P277T,Q1094E,R1216I,R1322Q,R1322W,R1485W,R157K,R332Q,R47H,R615Q,R799H,S127C,S738Y,T1160S,T1186S,T435A,T723I,Y418H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10349 706 sw8447;dbsnp8658;dbsnp8659 ABCA5_HUMAN;NP_061142.2;NP_758424.1 "A1044T,A1315T,A178T,A285V,A831T,A832S,D1260G,D1260N,D817Y,E1587D,G1159R,H1092N,H99R,I1173V,I871N,I871S,I871T,I986V,M753V,M960V,N190S,N768D,Q484R,Q93K,S1508C,S272T,S469A,S90N,T1248M,T846K,V356E,V368M,Y1096C,Y81C,Y947F,Y966C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23461 693 sw8448;dbsnp864 OIT3_HUMAN;NP_689848.1 "A66V,C105F,E58G,N371K,R454Q,R518C,S163R,S237P" "0,0,0,0,0,0,0,0" 170392 5915 sw8449;dbsnp28901 LCN9_HUMAN;NP_001001676.1 "A137V,C90F,G97R,H65Y,M24V,P169Q" "0,0,0,0,0,0" 392399 13433 sw8452;dbsnp1433 PATE1_HUMAN;NP_612151.1 "A74G,I66V,Q47R,V46I" "0,0,0,0" 160065 14311 sw8454;sws943;dbsnp20665 5HT3C_HUMAN;NP_570126.2 "E147G,F427L,G25S,G403V,G405A,M412T,N163K,P340L,P385L,R345S,T159N,T186A,T204K,V327I,V441I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 170572 6973 sw8455;dbsnp18588;dbsnp18589 MT21A_HUMAN;NP_001120867.1;NP_660323.3 "A209P,A84P,T192I,Y177C" "0,0,0,0" 151194 12570 sw8456;dbsnp11944 ZN606_HUMAN;NP_079303.2 "D384N,E509D,H300R,I105V,M20I,S141G,T14M,V40M" "0,0,0,0,0,0,0,0" 80095 3274 sw8457;dbsnp18798 PRR21_HUMAN;NP_001074304.1 "A161S,A296G,A49S,A49T,A63P,C109R,C249R,C277R,C305R,C4S,C67R,C67W,C67Y,F18L,F18S,G31S,G58S,H30Y,H51R,H79R,I42T,K342M,L266I,L266V,L54P,M118T,M314T,M48I,P119A,P13L,P159S,P163R,P91A,R107P,R275P,R53W,R95L,S380A,S45P,S73P,S77A,S86G,S89P,T328P,T70I,V182I,V182L,V322I,V98I,W39C,W39R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 643905 8819 sw8459;dbsnp6619 SCG3_HUMAN;NP_037375.2 "D385G,G143E,G25V,I307T,M233K,M233V,S125N,S362G,T111S,V167A" "0,0,0,0,0,0,0,0,0,0" 29106 7240 sw8460;dbsnp18216 GEMI6_HUMAN;NP_079051.9 "E69A,G140D,T87M" "0,0,0" 79833 13590 sw8461;dbsnp9295 CSKI2_HUMAN;NP_065804.2 "A1088T,A1162S,C173R,D332A,E891G,G1097R,G824S,H428R,K149R,L295F,L432R,L688F,P371R,P727R,P882L,Q5L,R217H,R835C,R835G,R835H,R835P,S385N,T561M,V247A,V410M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57513 1416 sw8462;dbsnp20013 ATRIP_HUMAN;NP_569055.1 "D711N,E338A,K125Q,L513P,M739L,P240L,Q172R,Q681H,R702Q,T523P,T766M,V456M" "0,0,0,0,0,0,0,0,0,0,0,0" 84126 3282 sw8463;spmut2070;dbsnp5646 STON2_HUMAN;NP_149095.2 "A206G,A904T,I850V,L615F,M430V,N697S,P23R,Q321R,R278H,R299H,R425H,R646H,R743H,S167L,S307P,S705T,S851A,T2M,T375P,T694A,V527M,V680M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85439 2497 sw8465;spmut1834;dbsnp18566 RSAD2_HUMAN;NP_542388.2 "A217T,C211R,E103G,L42R,R148Q,T234M,V52I" "0,0,0,0,0,0,0" 91543 9391 sw8466;dbsnp1633 MADD_HUMAN;NP_003673.3 "A1161T,A165V,D73G,E675K,G217D,G734S,L1040F,L1518P,N444D,N598D,P696T,R117H,R1273H,R161H,R764H,R765Q,R855Q,R968G,S1241T,S791N,S935C,S935F,T44N,T878M,T878R,V751M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8567 690 sw8467;dbsnp23166 S100Z_HUMAN;NP_570128.2 "E23A,E23G" "0,0" 170591 14661 sw8469;sws944;dbsnp5584 SYNE2_HUMAN;NP_055995.4 "A2284V,A2347E,A2394T,A2395T,A2723G,A4098D,A4219T,A4907V,A5393V,A5399T,A5540G,A6078S,A6078T,A6155V,A6279T,A6648T,A6698T,D1238A,D229E,D3253H,D5083G,D5283G,D5547G,D5547N,D6450H,D6781N,E2062G,E2085K,E2388K,E3026D,E3143D,E4116K,E4311K,E4524K,E4598K,E4686G,E4913K,E6710K,E6811K,E6815K,E727A,F4843Y,G2801S,G4191D,G6655A,H1729Q,H3309R,H5086Y,H5363R,I1187L,I2564V,I2942V,I3008T,I3423M,I3844V,I4209T,I574T,I6524V,K1845R,K1965E,K3523Q,K3691E,K4931R,K6504N,K6681E,L1839F,L3979V,L4943F,L5186M,L5854P,M1969T,M4331L,N2358S,N2633S,N3130S,N3249S,N3982H,N4187I,N4199S,N4418K,N5073S,N6000K,N685S,P3077L,P4225S,P4733T,P4912A,P5469T,P5531T,P6438L,P6824S,P8S,Q3612R,Q3765R,Q3771H,Q4386E,Q6632L,Q854E,R1393W,R4041C,R4041H,R4894Q,R5149C,R5149H,R5573Q,R5577Q,R5825S,R6379C,R6379H,R6683Q,R6697W,S2359G,S2359N,S2802G,S4126T,S432R,S4974A,S5474T,S5508T,S6449L,T2024I,T2866M,T4617I,T5138M,T5678M,T5808I,T6211M,V2490G,V3827L,V4475A,V5261I,V5265A,V5699L,W4001R,Y4015H,Y5286C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0" 23224 9 sw846;dbsnp27522 DOK2_HUMAN;NP_003965.2 "A152P,A305T,D331H,G4R,L11F,L138S,P274L,R201H,R229W,R266Q,R266W,R61S,S394A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9046 8331 sw8470;dbsnp7838 JPH3_HUMAN;NP_065706.2 "A186D,A274V,G136S,G345S,G715R,H425Q,I376T,P472T,P645L,R365C,R426W,S209T,T175M,T256M,T623R,V199M,V289L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57338 3628 sw8471;dbsnp30240 ASB11_HUMAN;NP_543149.1 "A145T,C146R,D249N,E177K,N92K,P5L,R208W,R296W,S165L,S263G" "0,0,0,0,0,0,0,0,0,0" 140456 10181 sw8472;dbsnp29683 RB40A_HUMAN;NP_543155.2 "E257K,H45L,N162S,P42L,S224F,T70M" "0,0,0,0,0,0" 142684 11261 sw8474;dbsnp13449 ACO11_HUMAN;NP_056362.1 "A328T,D329V,D575E,E553K,G202D,H516Q,L479F,M123I,M212I,P165L,R11W,R20H,R256W,R259H,R313W,R536H,R568S,S131L,S408L,V474I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26027 5055 sw8475 MUC16_HUMAN "K1400N,T10509N" "0,0" 94025 1 sw8476;dbsnp3933 CLC4D_HUMAN;NP_525126.2 "E72G,L18R,L73P,R137G,R138Q,R165H,S32G,W194R" "0,0,0,0,0,0,0,0" 338339 12638 sw8477;dbsnp13459 ASB17_HUMAN;NP_543144.1 "P144L,S247L,S2N,V101A" "0,0,0,0" 127247 10980 sw8478;dbsnp26432 ASB15_HUMAN;NP_563616.3 "A31T,E58K,F458S,G221V,G357A,K66E,M411T,M69I,P57L,Q552R,R417H,S245L" "0,0,0,0,0,0,0,0,0,0,0,0" 142685 5300 sw8479;dbsnp26585;dbsnp26587 CBPA5_HUMAN;NP_001120913.1;NP_525124.3 "R425Q,S378G" "0,0" 93979 7840 sw8480;dbsnp18755 MYO3B_HUMAN;NP_620482.3 "A406T,D1272E,E352Q,E583K,E773G,E798K,G1234R,H316L,I1092V,I275V,K309E,M13V,N267S,N388S,P21S,Q638P,R1082K,R1165C,R185H,R187W,R918Q,R990C,S969C,V1137I,V114F,V770I,V841A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140469 717 sw8482;dbsnp545 ATS14_HUMAN;NP_542453.2 "D184N,E1006K,E1049G,E1049V,E138G,G1084S,G1174R,G1206R,G326R,G728R,G770R,H303R,H79Y,I754T,L590P,L937M,L937V,N941S,P1106L,P1108S,P1113S,P948L,R125W,R149W,R179C,R209Q,R249W,R330C,R344C,R674Q,R776W,R876C,R876H,R898C,S1017N,S1098L,S270L,T1039M,V302A,V395M,Y10F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140766 1342 sw8483;dbsnp6408 DYXC1_HUMAN;NP_570722.2 "A332V,E191G,H264N,K288E,K294M,N38K,N43S,P2S,S420C,V91I,Y306C" "0,0,0,0,0,0,0,0,0,0,0" 161582 8151 sw8484;dbsnp4973 PIBF1_HUMAN;NP_006337.2 "A398T,C484Y,H523N,H713P,I167V,I34M,I51V,I630V,L598R,M73T,N327T,R299Q,R405Q,R469H,T569P,T644M,T71I,V693I,Y503C,Y560C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10464 3546 sw8485;dbsnp18036 DYH7_HUMAN;NP_061720.2 "A2611T,A280T,A514T,D2867Y,D565H,E1525K,E2243D,F3566S,H169P,H3926R,I1020T,I1128T,I1131T,I1854V,I2498T,I2809V,I3046V,I315V,K159E,K675E,K7I,K825E,L3319P,L447S,M2020T,M2828T,M380R,M879I,M950V,N2459K,N3852S,P1422T,P1940L,P1971L,Q99E,R1886Q,R2483Q,R3386H,R3634Q,R3653C,R3983W,R545C,S438N,S632C,S64C,T2114A,T2569I,T3307S,V2581I,Y2054C,Y3907C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56171 72 sw8486;dbsnp26259 AUTS2_HUMAN;NP_056385.1 "A303S,D779N,E204G,G1146V,I289V,L129V,P1006L,P690S,R117C,R1259Q,R327P,S194F" "0,0,0,0,0,0,0,0,0,0,0,0" 26053 1254 sw8487;sws946;dbsnp29991;dbsnp29992 CTR3_HUMAN;NP_001041629.1;NP_116192.4 "L154P,L508V,R282H,R600H,S589T,T378S" "0,0,0,0,0,0" 84889 4095 sw8488;dbsnp21190 BBX_HUMAN;NP_001136040.1 "A260V,A442T,A60V,L105R,M929I,N5S,P576S,R240L,R79Q,R81W,T815M,V797L" "0,0,0,0,0,0,0,0,0,0,0,0" 56987 2387 sw8489;spmut1302;dbsnp25097 MYLIP_HUMAN;NP_037394.2 "G51S,I202L,M229T,N342S,S217R,V339I,V420I" "0,0,0,0,0,0,0" 29116 7669 sw848;dbsnp1179 NCOAT_HUMAN;NP_036347.1 "A550V,E602K,G46E,L555V,M514L,P376S,S601A,V714I" "0,0,0,0,0,0,0,0" 10724 2516 sw8490;dbsnp18842 THAP4_HUMAN;NP_057047.4 "A192E,E207K,G208R,K259E,S117N,S121G,S131L,S132C" "0,0,0,0,0,0,0,0" 51078 5460 sw8491;dbsnp3407 BMAL2_HUMAN;NP_064568.3 "A574V,E296D,G54R,I372T,K203R,N340S,S501G,S74F,S92N,V239E,Y355C" "0,0,0,0,0,0,0,0,0,0,0" 56938 4732 sw8492;dbsnp16357 CTBL1_HUMAN;NP_110517.2 "A455V,L321I,N507D,R544Q,V126L,Y41C" "0,0,0,0,0,0" 56259 5638 sw8493;sws949;dbsnp476 KAT6B_HUMAN;NP_036462.2 "A1217S,D1077E,E360K,G2005D,G555R,H814Y,H936R,M311I,P490S,Q1321L,R1612H,R960W,T1587M,T1960M,V1464M,V1499I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23522 388 sw8494;spmut1900 SEPT1_HUMAN G80V 0 1731 6795 sw8495;sws950;dbsnp22897 ACO12_HUMAN;NP_570123.1 "A403T,E151A,F81S,G278A,I341V,K447Q,L286V,R264C,R320H,S430G,S516T,V230I" "0,0,0,0,0,0,0,0,0,0,0,0" 134526 5768 sw8496;dbsnp19123 CNTP5_HUMAN;NP_570129.1 "A1186T,N27T,R1270C,R148K,S452L,T1195M,T581P,V717A,V863I" "0,0,0,0,0,0,0,0,0" 129684 1153 sw8497;dbsnp5392;dbsnp5393;dbsnp5394 JDP2_HUMAN;NP_569736.1;NP_001128519.1;NP_001128520.1 "E161K,K147R,T13A" "0,0,0" 122953 13338 sw8498;dbsnp16057 RIN2_HUMAN;NP_061866.1 "A643T,A741T,C71Y,D697E,E203D,G29R,M610R,M711K,P143S,P308S,R775K,S197T,V548M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 54453 2369 sw849;dbsnp7530 ADCY9_HUMAN;NP_001107.2 "A267S,E546Q,I531N,I772M,K564Q,L73M,N1154I,N1154S,P1311L,Q1126R,Q757H,R1323Q,R580C,R969H,S661G,T175I,T236A,V1165I,V63F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115 1061 sw84;dbsnp23038 CE049_HUMAN;NP_001083053.1 "E87K,P139S,Q68H" "0,0,0" 134121 13969 sw8500;spmut493;dbsnp17647 DGCR8_HUMAN;NP_073557.3 "A15T,I174V,K588R,K713N,L86I,N725D,R364Q,S373G" "0,0,0,0,0,0,0,0" 54487 3422 sw8501;sws952;dbsnp7650 ZCH14_HUMAN;NP_055959.1 "A558T,A565V,G244A,I54V,P158T,P506S,P931S,R378P,S64T,S83L,T382P,V693M,Y148H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23174 2350 sw8502;sws953;dbsnp9855;dbsnp9857;hgmd0613_701 PI3R5_HUMAN;NP_001136105.1;NP_055123.2 "F522L,G809A,L359S,N537S,P512L,P583L,P629S,P853S,R111Q,R157H,V211I,V561M" "0,0,0,0,0,0,1,0,0,0,0,0" 23533 2715 sw8503;dbsnp2904;hgmd0613_706 TOMT_HUMAN;NP_001138780.1 "A133P,E110K,L16P,R158H,R208Q,R217W,R70Q,R81Q,V118I,V127G,W105R" "0,1,1,1,1,0,0,1,0,0,1" 220074 13138 sw8504;sws954;spmut2164;dbsnp18089 TITIN_HUMAN;NP_001243779.1 "A1081T,A12216T,A1223V,A13377V,A13418T,A13559G,A1385T,A15520V,A16394V,A17528D,A18222T,A1827S,A1827T,A18857V,A1914T,A20198T,A20198V,A20775P,A21179P,A2164T,A21970V,A22045V,A22360T,A22770D,A23220V,A24098G,A24098T,A24608G,A25679T,A25923V,A25959T,A26017T,A28189T,A28295S,A28334V,A2866T,A28948T,A2980T,A29969T,A30052D,A31124G,A31231G,A32423V,A33110P,A33622S,A33622V,A3794G,A391V,A4002T,A445T,A483T,A5211T,A529T,A570V,A6631T,A6637V,A743V,A744T,A7543T,A7992V,A8038E,A8288V,A8505T,A9951P,C31690R,C34277Y,C4592Y,C8398Y,D12639V,D13469N,D15512E,D1696N,D17866N,D17923N,D18035Y,D18332N,D19495G,D20040V,D21013H,D21125E,D2240Y,D2243Y,D23523N,D23872N,D24954H,D25727G,D26808G,D26843Y,D29976E,D30038N,D30299N,D31002Y,D31181A,D31301E,D4427E,D5199Y,D5597V,D6018G,D60Y,D6719N,D7145E,D7145H,D7279H,D8149E,D8427G,E10001K,E10052D,E10699K,E11686G,E13049G,E13428V,E15097K,E18094A,E22968K,E22968Q,E23090K,E24265K,E24753Q,E2512K,E2571K,E26675Q,E30108K,E30825K,E31410K,E33284A,E33419D,E33616K,E33886V,E33918Q,E3714Q,E5646G,E6348D,E6575K,E7827A,E7891K,E7957K,E9300K,E9459K,F1466L,F22041L,F25404L,F26117L,F27754L,F30818I,F6880L,G10305R,G1137R,G12082S,G12310E,G13226R,G1345D,G18109S,G19947R,G20248V,G21428S,G21925R,G23908S,G2392S,G2513R,G25182A,G27728V,G28021S,G28430D,G28717E,G28993E,G30887D,G30887S,G31732S,G32510R,G32637V,G33315D,G4238W,G4303D,G5531E,G6178A,G6512S,G6551R,G6741D,G8874R,H12383R,H1824Y,H23424R,H2508R,H25165R,H33061D,H33364Y,H3822R,H4589Q,H7333L,I10205V,I12735V,I13399M,I13430T,I13569N,I1393V,I14677T,I15228T,I15404T,I15418V,I1544V,I15837M,I16090T,I16629M,I16739T,I17637V,I17723M,I18964T,I20269T,I2118T,I21408V,I22261T,I23350T,I2372V,I2448V,I24503T,I24584T,I24781T,I25260V,I25663V,I2580M,I26134V,I2622V,I27509L,I27755T,I27929V,I28132L,I28572T,I28675T,I28884T,I28884V,I28986V,I29090V,I30412T,I30856T,I31081F,I31419L,I31712T,I32294V,I32299T,I32558V,I33577T,I33899T,I34103V,I34306N,I3762V,I3877F,I3965L,I6690F,I7202L,I7737L,I787T,I8256L,I8474T,I9401T,I9954V,K11120T,K11124E,K1129R,K1201E,K12620N,K12679E,K13495N,K16067I,K16877R,K22306N,K22682E,K25842Q,K27346R,K30010N,K3154R,K33568Q,K8008E,K8331E,K8892E,K9744Q,L10467V,L13073P,L1387P,L1443P,L15705P,L17001Q,L17918Q,L18419H,L20451F,L22408P,L23889F,L24024R,L25548V,L28256F,L28998V,L29479P,L30211P,L32226V,L34315P,L3590V,L4283F,L4283V,L6456F,L9196F,M13886K,M1557I,M2610I,M27448T,M29210R,M32610V,M4190T,M6085V,M6399K,N15021T,N17060D,N18939S,N19059D,N24119S,N25879K,N29259S,N3026I,N31156S,N3171S,N6803T,N7339D,N8486S,P10250H,P10296Q,P10558L,P10738L,P12329S,P14208T,P14338L,P16662Q,P17167S,P1744L,P18221L,P18633L,P21403S,P22584L,P2279A,P23074L,P23372S,P23660T,P25332A,P25720A,P26910T,P28690S,P31246A,P31246T,P31553L,P31846S,P3236L,P324S,P32659L,P3350L,P33620L,P3491S,P3637S,P3673L,P4678R,P6164S,P6926L,P757L,P8577L,Q23324H,Q25238K,Q3191E,Q32281H,Q34066L,Q466R,Q4871P,Q8225H,R10208S,R10566K,R10668P,R10701Q,R10779H,R11283H,R1159L,R12798C,R13096L,R13442Q,R13601K,R14069H,R14090C,R14131Q,R1416C,R1421W,R14267H,R1431W,R1441C,R1441P,R14491C,R14491S,R15186Q,R15582Q,R15620Q,R15700Q,R1572Q,R16058H,R16409C,R16424P,R16574C,R16574P,R16577Q,R1658G,R1664W,R16917H,R17114C,R17321Q,R17423T,R1752H,R17683Q,R17838H,R18012W,R18107Q,R18164T,R18726Q,R1890C,R19000Q,R19368Q,R19396C,R19568Q,R19597C,R19665H,R19751C,R19963Q,R1998H,R19992Q,R20057C,R20331H,R20359K,R20488H,R20529H,R20564K,R20928Q,R2120Q,R2120W,R21730C,R21747Q,R21838Q,R21995C,R21995H,R22142H,R22149H,R22357H,R22555C,R22627H,R23306C,R2354H,R23716C,R2439H,R24521K,R24571K,R24798H,R24799C,R24799H,R2490L,R25211C,R25659H,R25922H,R26053C,R26165Q,R26316K,R26477C,R2654K,R27155H,R27652C,R27864H,R279W,R28168Q,R28538H,R28682K,R29419C,R29787G,R30107C,R30478K,R30726C,R30897H,R30907H,R30946H,R31107C,R3113H,R3120Q,R31330H,R31330P,R31513C,R3163C,R3163H,R31724Q,R31825H,R32097C,R32097H,R32323H,R3265S,R32830Q,R328C,R32934C,R32953H,R32996Q,R33041H,R33218Q,R3363H,R3367Q,R3388Q,R360T,R4084Q,R4525K,R4991Q,R6731Q,R674S,R7228Q,R740L,R7977G,R8329C,R9048W,R9121Q,R9172Q,R922C,R922H,R9638Q,R999C,S1249L,S1291L,S12923T,S1295L,S1400T,S14092N,S14996N,S14999T,S15629I,S1625C,S16381P,S1772G,S17901P,S17981Y,S181N,S18632Y,S20075L,S20726P,S20894R,S21585G,S22368T,S23652C,S23807N,S26694A,S27824F,S2831N,S29684L,S30042G,S30125F,S30251I,S30526F,S31113C,S33430C,S3419N,S3799Y,S4463N,S4465N,S6117N,S6943Y,S7409L,S8108N,S867G,S8987P,T12771A,T12860S,T14160I,T14321A,T14340M,T1488M,T15344I,T1580M,T17797I,T18422R,T19367I,T19762I,T2014A,T20179I,T20179K,T20490A,T20892N,T21353I,T22460N,T22670A,T23939K,T23939M,T24239A,T24508S,T24980K,T24980M,T25821K,T26143M,T29698I,T30674I,T30729N,T32855A,T3295M,T33387M,T33955I,T4215P,T4640S,T4697S,T5454S,T5942S,T6342M,T811I,T8526M,T9621S,T9818I,V10150I,V1034M,V10435I,V1057A,V11521M,V1202A,V12189I,V12469A,V13297A,V1353L,V14109I,V15354F,V16419I,V1649I,V16575M,V17384I,V17483I,V1766I,V18081A,V18437M,V18523L,V18847M,V1889F,V19581A,V19849L,V19956M,V20718I,V21661I,V22140I,V22160I,V22939A,V23113A,V23891A,V24133I,V24547A,V24658D,V24963I,V26045I,V26083G,V27442F,V27629I,V2772M,V2812L,V2823F,V28420I,V29070M,V2930I,V29660I,V30076I,V31725I,V31886I,V32219I,V32248I,V3250G,V3261M,V32832I,V32922A,V33213L,V33536M,V335M,V3368A,V33935A,V34115A,V4032M,V498I,V5118M,V54M,V7481M,V8284F,V8343I,V8432I,V8826F,W14583R,W2126L,W976R,Y1300C,Y14745C,Y23933H,Y27080H,Y3970C,Y4342C,Y5366C" 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PLSLGPNIEIIHEGLDYYALHIRDTLPEDTGYYRVTATNTAGSTSCQAHLQVERLRYKKQEFKSKEEHERHVQKQIDKTLRMAEILSGTESVPLTQVAKEALREAAVLYKPAVSTKTVKGEFRLEIEEKKEERKLRMPYDVPEPRKYKQTTIEEDQRIKQFVPMSDMKWYKKIRDQYEMPGKLDRVVQKRPKRIRLSRWEQFYVMPLPRITDQYRPKWRIPKLSQDDLEIVRPARRRTPSPDYDFYYRPRRRSLGDISDEELLLPIDDYLAMKRTEEERLRLEEELELGFSASPPSRSPPHFELSSLRYSSPQAHVKVEETRKDFRYSTYHIPTKAEASTSYAELRERHAQAAYRQPKQRQRIMAEREDEELLRPVTTTQHLSEYKSELDFMSKEEKSRKKSRRQREVTEITEIEEEYEISKHAQRESSSSASRLLRRRRSLSPTYIELMRPVSELIRSRPQPAEEYEDDTERRSPTPERTRPRSPSPVSSERSLSRFERSARFDIFSRYESMKAALKTQKTSERKYEVLSQQPFTLDHAPRITLRMRSHRVPCGQNTRFILNVQSKPTAEVKWYHNGVELQESSKIHYTNTSGVLTLEILDCHTDDSGTYRAVCTNYKGEASDYATLDVTGGDYTTYASQRRDEEVPRSVFPELTRTEAYAVSSFKKTSEMEASSSVREVKSQMTETRESLSSYEHSASAEMKSAALEEKSLEEKSTTRKIKTTLAARILTKPRSMTVYEGESARFSCDTDGEPVPTVTWLRKGQVLSTSARHQVTTTKYKSTFEISSVQASDEGNYSVVVENSEGKQEAEFTLTIQKARVTEKAVTSPPRVKSPEPRVKSPEAVKSPKRVKSPEPSHPKAVSPTETKPTPTEKVQHLPVSAPPKITQFLKAEASKEIAKLTCVVESSVLRAKEVTWYKDGKKLKENGHFQFHYSADGTYELKINNLTESDQGEYVCEISGEGGTSKTNLQFMGQAFKSIHEKVSKISETKKSDQKTTESTVTRKTEPKAPEPISSKPVIVTGLQDTTVSSDSVAKFAVKATGEPRPTAIWTKDGKAITQGGKYKLSEDKGGFFLEIHKTDTSDSGLYTCTVKNSAGSVSSSCKLTIKAIKDTEAQKVSTQKTSEITPQKKAVVQEEISQKALRSEEIKMSEAKSQEKLALKEEASKVLISEEVKKSAATSLEKSIVHEEITKTSQASEEVRTHAEIKAFSTQMSINEGQRLVLKANIAGATDVKWVLNGVELTNSEEYRYGVSGSDQTLTIKQASHRDEGILTCISKTKEGIVKCQYDLTLSKELSDAPAFISQPRSQNINEGQNVLFTCEISGEPSPEIEWFKNNLPISISSNVSISRSRNVYSLEIRNASVSDSGKYTIKAKNFRGQCSATASLMVLPLVEEPSREVVLRTSGDTSLQGSFSSQSVQMSASKQEASFSSFSSSSASSMTEMKFASMSAQSMSSMQESFVEMSSSSFMGISNMTQLESSTSKMLKAGIRGIPPKIEALPSDISIDEGKVLTVACAFTGEPTPEVTWSCGGRKIHSQEQGRFHIENTDDLTTLIIMDVQKQDGGLYTLSLGNEFGSDSATVNIHIRSI 7273 0 sw8506;dbsnp21157 KLHL6_HUMAN;NP_569713.2 "D159N,D226E,E237A,I518V,L213M,M313I,R244Q,R308H,R87H,V615L,V619M" "0,0,0,0,0,0,0,0,0,0,0" 89857 4894 sw8507;dbsnp22098 ARAP2_HUMAN;NP_056045.2 "A1508T,D10N,E753Q,E888V,F1006L,G1561S,G364E,I264M,I532V,K384N,N943H,P159S,P89L,Q1698K,Q1701H,Q891P,R1221I,R1230H,R1430Q,R151C,R1523Q,R1631Q,R399Q,R498H,R642Q,S116R,S860T,T227S,V446F,V446I,V846L,Y1471H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116984 638 sw8508;dbsnp2503 CK040_HUMAN;NP_653264.1 "F100S,G197W,L191Q,R176L,T141M" "0,0,0,0,0" 143501 12589 sw8509;dbsnp26536 CTTB2_HUMAN;NP_219499.1 "A127T,D1423E,E9K,G1563R,G576R,K1619Q,L1213V,M326I,N1038S,N246T,P1586L,Q1148K,Q648E,R1324H,S1505P,S1607P,T1571A,V1035M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83992 676 sw850;spmut2353;dbsnp27419 VINEX_HUMAN;NP_005766.3 "D355E,E239G,G264A,G584D,H422Y,I271T,I556T,P255L,P525S,P73L,Q162H,R148W,R39W,R517W,R541C,R550H,R566C,R655Q,R9C,T573A,V233A,V236A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10174 4356 sw8510;dbsnp2128 ROBO4_HUMAN;NP_061928.4 "A128T,A213T,C757S,E708D,G25V,G272S,G662D,L105P,L563F,L698M,P160L,P252L,P639S,P718L,P760L,P824R,Q103P,Q293P,Q54R,R144W,R329W,R380C,R492W,R494Q,R560C,R606H,R669Q,R669W,R776C,R776H,S592N,S761R,S895F,S895P,T724I,V833I,W956R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54538 2082 sw8511;dbsnp14000 DNS2B_HUMAN;NP_067056.2 "C321Y,K47R,Q3H,R327Q,R51K" "0,0,0,0,0" 58511 9392 sw8512;dbsnp1994 OR8D1_HUMAN;NP_001002917.1 "A50T,C127W,F102V,F103L,F68L,I201T,L194P,R229H,R234L,S254F,S7Y,V69I" "0,0,0,0,0,0,0,0,0,0,0,0" 283159 9775 sw8513;dbsnp1721 OR5P2_HUMAN;NP_703145.1 "C213S,E182K,F247V,G19D,G7R,N318D,R118H,R27Q,S133F,S307C,S36C,T275I,V212I,Y145C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120065 10346 sw8514;dbsnp1379 OR5P3_HUMAN;NP_703146.1 "F193L,F251L,F277L,H229R,I307M,K272E,L131F,L82P,P58A,P93S,T158K,T21I,T246S,V248I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120066 9361 sw8515;dbsnp13803 LZIC_HUMAN;NP_115744.2 "A147P,G104D" "0,0" 84328 13167 sw8516 PMGT1_HUMAN "E250V,M623V" "0,0" 55624 3631 sw8519;dbsnp29163 AQP3_HUMAN;NP_004916.1 "I292M,V43M" "0,0" 360 11045 sw851;dbsnp20542;dbsnp20543 B4GT4_HUMAN;NP_003769.1;NP_997708.1 "A344S,C208F,G343D,Q116E,V128I" "0,0,0,0,0" 8702 9809 sw8520;dbsnp25241 ASM3A_HUMAN;NP_006705.1 "E234D,E381A,G215V,H16Y,I264S,N72K,P161S,P385L,R343H,V167G" "0,0,0,0,0,0,0,0,0,0" 10924 7529 sw8521;dbsnp14072 ASM3B_HUMAN;NP_055289.2 "A168T,G276R,K79N,N256I,N256S,R252Q,R252W,R268H,R381H,R418C,T245M,V263A,V269I,Y129H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27293 7487 sw8523;sws956;spmut2051;dbsnp30362;dbsnp30364 STAR8_HUMAN;NP_055540.2;NP_001135976.1 "A328T,A328V,A54T,D416H,D921N,E348D,E67D,G425R,K226N,L965F,P387L,P466S,P872S,R123C,R125H,R327Q,R557K,R580H,R745C,V630I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9754 1699 sw8524 S14L1_HUMAN "A97G,T188P,V37M,Y98H" "0,0,0,0" 6397 3889 sw8525;dbsnp25338;dbsnp25339 S39A7_HUMAN;NP_001070984.1;NP_008910.2 "D87N,E280G,F154S,F54L,G124R,H250R,T283P" "0,0,0,0,0,0,0" 7922 7223 sw8526;sws957;dbsnp25371 DHB8_HUMAN;NP_055049.1 "A104V,A174V,G258D,H190R,L128H,M1V,M206T,R185W,R193H,T131A,V210L" "0,0,0,0,0,0,0,0,0,0,0" 7923 11677 sw8527;dbsnp19315 TRIB2_HUMAN;NP_067675.1 "A102S,H4R" "0,0" 28951 9168 sw8528;dbsnp6413 PIGB_HUMAN;NP_004846.4 "G404A,I68L,K551T,L484S,M162T,P263R,S502G,W299L" "0,0,0,0,0,0,0,0" 9488 5784 sw8529;dbsnp17355;dbsnp17357;dbsnp17359;dbsnp17360;dbsnp17361 CPT1B_HUMAN;NP_689451.1;NP_001138607.1;NP_001138609.1;NP_689452.1;NP_004368.1 "A627E,E531K,E729K,G320D,H445L,I66V,R285H,R563Q,R601Q,S427C,S664Y,S772R,Y428C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 1375 3724 sw852;dbsnp24954 TDRD6_HUMAN;NP_001010870.1 "A1751P,A491V,A555T,C1017Y,C1546R,C1975G,C440Y,C73R,D1077G,D899N,E1346K,E1444K,E308Q,E953Q,F1063V,F1305L,F1387L,F242L,F619L,G314C,H632R,I1410V,I795M,K1432R,K1700E,K1919E,L1189W,L1544F,L1588V,L1890P,N1186S,N1399S,N1724H,N1824D,N1875D,N2076S,P1874L,P231L,Q1014E,Q1421R,Q1484R,Q1880R,Q832K,R192Q,R270H,R519I,S414P,S762F,T1269R,T1719I,T398A,T727A,T734P,V1349A,V1598I,V173M,V1872L,V781A,Y1653C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221400 380 sw853 NEMF_HUMAN S257C 0 9147 1793 sw8530;dbsnp8946 TCPW_HUMAN;NP_006575.2 "A228T,A433D,D442Y,E263G,G247A,G60D,R17Q,S9P,V176L,V235I,V291I,V333M,V48A,V87F,V87I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10693 6109 sw8531;dbsnp16204;dbsnp16205 PSMF1_HUMAN;NP_006805.2;NP_848693.2 "D73G,F36C,G255R,H174R,P141L,P190L,R133H,R156W,R242H,S215F,V192A" "0,0,0,0,0,0,0,0,0,0,0" 9491 11460 sw8532;dbsnp13294;dbsnp13295 PIGC_HUMAN;NP_714969.1;NP_002633.1 "H83Y,K110N,P266S,R226W,T130I" "0,0,0,0,0" 5279 10934 sw8533;dbsnp598 GBF1_HUMAN;NP_004184.1 "A962T,E504D,G1693S,I268T,K1045E,M375T,R808H,V1196M,V1348M,V1494F,V1494L" "0,0,0,0,0,0,0,0,0,0,0" 8729 516 sw8536;dbsnp14556;hgmd0613_1746 NICA_HUMAN;NP_056146.1 "D509N,E77D,F534L,N417D,N417Y,N580S,P211R,S67I,V75I" "0,0,0,0,0,0,1,0,1" 23385 3986 sw8537 SNX19_HUMAN "D396E,L618F,L878R,N753S,S407G,V361L" "0,0,0,0,0,0" 399979 2139 sw8538;dbsnp20467 TOPB1_HUMAN;NP_008958.2 "A1003T,C981Y,G1203A,H526Q,I364L,K457Q,K856E,N1042D,N1042S,N1042Y,N955S,P1048L,R1013Q,R309C,R851H,S747N,S817L,S960Y,V637I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11073 801 sw8539;dbsnp23386 RT27_HUMAN;NP_055899.2 "A24V,G284D,P253S,Q396E,R82Q,S197R,T291A,Y34H" "0,0,0,0,0,0,0,0" 23107 8293 sw8540;dbsnp26591;dbsnp26592;dbsnp26593 ELMO1_HUMAN;NP_055615.8;NP_001193409.1;NP_001193411.1 "C457S,I362S,M444I,P496L,V37I,V585F" "0,0,0,0,0,0" 9844 3425 sw8541;sws958;spmut200;dbsnp21156 BAP1_HUMAN;NP_004647.1 "A95D,C91W,E314K,E315A,E685V,G178V,N344S,P302L,S596G,T423K,T613M,V476A,V616E" "1,1,0,1,1,1,0,0,0,0,0,0,0" 8314 3791 sw8542;dbsnp27709;dbsnp27710 PHYIP_HUMAN;NP_001092805.1;NP_055574.3 "R21S,S168R" "0,0" 9796 9074 sw8544;dbsnp395;dbsnp396 TICN2_HUMAN;NP_001231879.1;NP_055582.1 "A17T,A271V,D375N,E279K,E33D,G233S,G353S,H119Y,I102T,K293E,M110I,P234L,R97L,S260R,T268M,T85I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9806 8060 sw8545;dbsnp13113;dbsnp13114 P55G_HUMAN;NP_003620.3;NP_001107644.1 "D338Y,N283K,N317S,N344S,P44L,R325C" "0,0,0,0,0,0" 8503 3800 sw8546;dbsnp23435 AP3S1_HUMAN;NP_001275.1 "A152T,N145S,P158L,P22R,S183N" "0,0,0,0,0" 1176 8712 sw8548;dbsnp19870 UBXN4_HUMAN;NP_055422.1 "D59N,P451T,S458R" "0,0,0" 23190 6509 sw8549;dbsnp24565 PHF3_HUMAN;NP_055968.1 "A152S,A405V,A854T,A890P,D1600Y,E1092D,E432K,E759K,E833A,F793L,G233R,G758S,G894V,H1834Y,H1976R,K1210R,K148R,K487E,L1805F,N254T,N472K,Q1609H,Q474H,R1674Q,R1920C,S1792T,T356P,T884A,V525I,V643M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23469 404 sw8550;dbsnp8052 CCL17_HUMAN;NP_002978.1 "K5N,V67M" "0,0" 6361 14726 sw8551;dbsnp23541 MAML1_HUMAN;NP_055572.1 "A796V,A987V,E553K,G513S,L161R,N800T,P420L,P824L,P905A,R142Q,R190H,R570Q,S1007N,S428T,S438G,S583N,T595I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9794 2042 sw8552;dbsnp27517;dbsnp27518 NDRG1_HUMAN;NP_001128714.1;NP_006087.2 "A11T,A150S,M111L,M67V,N220K,R343H,R363H,T356A" "0,0,0,0,0,0,0,0" 10397 8705 sw8553;spmut1727;dbsnp19833 RCD1_HUMAN;NP_005435.1 "A112T,I143T" "0,0" 9125 10880 sw8554;dbsnp23292 DOCK2_HUMAN;NP_004937.1 "A1401S,A1765V,A1816S,A454T,D1233Y,D1558A,F1047C,I980T,K1801R,K863E,L1250F,L880M,M1511I,M211V,M535V,N1652S,N439S,P1676L,P1676R,Q30H,R1722Q,R1782C,R214W,S1659T,S1746T,S953F,T1279M,T1779S,T1809A,T251M,V1360M,V532M,V879I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1794 539 sw8555;dbsnp20184;dbsnp20185 TBCD5_HUMAN;NP_055559.1;NP_001127852.1 "A671E,C96Y,G733S,I696V,L625V,L95F,Q273R,Q667H,Q736K,S44F,S732T,V542I,V618L,Y375C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9779 3107 sw8556;dbsnp6786;hgmd0613_1700 ZN592_HUMAN;NP_055445.2 "A29P,A576V,D310Y,G1046R,G1223S,G176R,G239R,K1003R,K1083N,K230Q,L1263P,L900F,P1238L,P136R,P172L,P172R,R350H,R937C,R977W,S298G,S926N,T1079M,T670M" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9640 1239 sw8557;dbsnp9324 MY18A_HUMAN;NP_510880.2 "A1571T,A958V,E1288G,E1288V,R1257Q,R1736H,T935I" "0,0,0,0,0,0,0" 399687 399 sw8558 GCN1L_HUMAN Y2155D 0 10985 198 sw8559;dbsnp10466 ZN516_HUMAN;NP_055458.1 "A164S,A164V,C610R,D587N,F1069L,G239S,K158N,L243R,N4S,P943L,V790M" "0,0,0,0,0,0,0,0,0,0,0" 9658 1519 sw855;dbsnp15411 FOXD2_HUMAN;NP_004465.3 "A368P,A65T" "0,0" 2306 6738 sw8560;dbsnp11218 HMHA1_HUMAN;NP_036424.2 "A426V,A886P,E1014A,E1014Q,E1090G,E259D,G1019R,G1073S,G1092S,H614Q,H693Q,M515I,P978L,R139H,R848H,S439G,T1124I,T1124P,T209M,T501I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23526 1546 sw8561;dbsnp7892 PRP16_HUMAN;NP_054722.2 "A1142G,D19N,D280N,D66E,E301K,E392G,I983V,R289H,R59Q,S969F,T1217A,T1221M,T16S,T308M,T492M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9785 1339 sw8562 NU205_HUMAN "E1356Q,P33S" "0,0" 23165 420 sw8563;dbsnp5784 TTC9A_HUMAN;NP_056166.1 "C214F,P103A" "0,0" 23508 12143 sw8564;dbsnp8753 APBP2_HUMAN;NP_006371.2 "H77R,K325R,R27H,S561N" "0,0,0,0" 10513 5335 sw8565;dbsnp24438 ANS1A_HUMAN;NP_056060.2 "A343T,A355D,D416N,H550Y,L694S,Q297H,R578G,R578H,R848K,T473A,V788I,V925L" "0,0,0,0,0,0,0,0,0,0,0,0" 23294 1605 sw8566;dbsnp18797;hgmd0613_1621 PXDN_HUMAN;NP_036425.1 "E182K,G1363E,Q1261R,R1129H,R1198Q,T1375I,V1022M,V1284L,V1288M" "0,0,0,0,0,0,0,0,0" 7837 859 sw8567;dbsnp23867 SGCD_HUMAN;NP_001121681.1 S150A 1 6444 10625 sw8568;sws960;spmut559;dbsnp4355 DYRK2_HUMAN;NP_006473.2 "A499V,F455Y,H245N,N295S,R451Q,S98G" "0,0,0,0,0,0" 8445 5124 sw8569 LPAR1_HUMAN N77S 0 1902 9315 sw856;spmut295;dbsnp4219 CCNT1_HUMAN;NP_001231.2 "A227P,A394V,A489V,D235N,E399G,H362R,H519R,M71T,R572H,S305A,S637L,T558A" "0,0,0,0,0,0,0,0,0,0,0,0" 904 3818 sw8570;dbsnp27507 FAN_HUMAN;NP_003571.2 R850T 0 8439 2355 sw8571;spmut793;dbsnp14692 GPI8_HUMAN;NP_005473.1 "L339R,T16A,V13A" "0,0,0" 10026 8687 sw8572;dbsnp4900 TF3A_HUMAN;NP_002088.2 "A19V,F111L,H86L,V245L" "0,0,0,0" 2971 9298 sw8573;dbsnp4913 RT31_HUMAN;NP_005821.2 "D279H,D279N,E291K,M351I,P293S,T241M,T62I" "0,0,0,0,0,0,0" 10240 8688 sw8574;dbsnp8746;dbsnp8747;dbsnp8748 AKAP1_HUMAN;NP_003479.1;NP_001229831.1;NP_001229832.1 "A18V,A218T,A291T,A685T,A822T,C102Y,D297E,E301K,G241A,G316S,G323S,I883L,K673Q,P818L,R124C,R124L,R374H,S330G,S847G,S886F,T521I,V33G,V60M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8165 2602 sw8575;sws961 SORL_HUMAN "A528T,Q1074E,V1967I" "0,0,0" 6653 336 sw8576;dbsnp14001 RSCA1_HUMAN;NP_006502.1 "C191W,E169K,F62L,G431V,H185R,H595R,H71D,I193V,L449Q,M1T,M27V,N205I,N271S,P560S,R31C,R471H,R471L,R47H,S304F,S454L,T291A,T430R,T436S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6248 4949 sw8578;dbsnp5452;dbsnp5453 PGTA_HUMAN;NP_878256.1;NP_004572.3 "D243V,G340S,N124S,T420A" "0,0,0,0" 5875 5587 sw857;spmut243 BUB1B_HUMAN "M15T,P378S,R349Q,T40M" "1,0,0,0" 701 1894 sw8580;sws962;spmut1666;dbsnp13655 PTPRU_HUMAN;NP_005695.3 "A670T,A873V,A877T,D906G,G841S,I1248V,K379T,N940S,P1188L,Q813R,R1202W,R296H,R471L,R61Q,R633Q,R808C,R860W,T1021N,T287A,T60N,V843F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10076 903 sw8581;spmut1799;dbsnp4803 RND1_HUMAN;NP_055285.1 "I94S,P44R,R181W,V200I" "0,0,0,0" 27289 12044 sw8582;dbsnp14399 PRCC_HUMAN;NP_005964.3 "P136S,P286A,P379T,Q172P,Q380E" "0,0,0,0,0" 5546 6823 sw8583;sws963;dbsnp19978;dbsnp19979;dbsnp19980;hgmd0613_1451 TFG_HUMAN;NP_001182407.1;NP_006061.2;NP_001007566.1 "A211V,G389D,P354A,S153A,T330A,T364P,V222I,V43F" "0,0,0,0,0,0,0,0" 10342 8583 sw8586;dbsnp10545 TAF4B_HUMAN;NP_005631.1 "A152T,A152V,I249V,N539S,P574L,P574T,Q332R,Q394H,T369N,T460I,V438L,Y710H" "0,0,0,0,0,0,0,0,0,0,0,0" 6875 2818 sw8587;dbsnp13156 TENR_HUMAN;NP_003276.3 "A128S,G293S,G646R,H414Y,I17V,M102I,N180H,P1342L,P526L,P647A,R1007Q,R643K,R775H,R803G,R944P,S302N,T1116M,T113I,T1147I,T166A,T383M,T592A,T921A,T996I,V515I,V669I,V732A,Y1017F,Y203H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7143 1053 sw8588;dbsnp24915 TF2H4_HUMAN;NP_001508.1 "G25A,R285C,R337Q,R453H,T208A" "0,0,0,0,0" 2968 7364 sw8589;dbsnp8682 KRT35_HUMAN;NP_002271.3 "C441Y,P443A,R27C,S36P" "0,0,0,0" 3886 6821 sw8590;dbsnp17988;hgmd0613_777 SFRP3_HUMAN;NP_001454.2 "A30S,E263K,I98T,M291T,N193S,R200W,R232Q,R324G" "0,0,0,0,0,0,1,0" 2487 9765 sw8591;dbsnp24572;dbsnp24574 RREB1_HUMAN;NP_001161816.1;NP_001003698.1 L1285V 0 6239 599 sw8592;dbsnp25863 HDAC2_HUMAN;NP_001518.3 "K404R,R230C,Y315H" "0,0,0" 3066 6871 sw8593;sws964;dbsnp22314 CDKL2_HUMAN;NP_003939.1 "A279S,A411V,H493R,I132T,I261M,M197T,N65S,S381T,V139A,V234A,V410M,Y253C,Y77S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 8999 6789 sw8596;spmut534 DPF3_HUMAN R177H 0 8110 8305 sw8597;dbsnp15463 PROX1_HUMAN;NP_002754.2 "E301G,H336P,H584R,R280H,R280P" "0,0,0,0,0" 5629 3728 sw8598;dbsnp8573 SC65_HUMAN;NP_006446.1 "F254L,Q186R,R314H" "0,0,0" 10609 7823 sw859;dbsnp28442 ISK4_HUMAN;NP_055286.1 "R4C,S43F,T62M,V7I" "0,0,0,0" 27290 14793 sw85;dbsnp17710;dbsnp17711 LRP5L_HUMAN;NP_001129244.1;NP_872298.1 "A25T,A40P,E59K,G173R,G242S,I186V,P100T,R104H,R188W,T239A,T239S,T27M,T61M,T91M,V214L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91355 718 sw86 PI4P2_HUMAN E223Q 0 - 5239 sw860 TLR5_HUMAN "F616L,F822L,L769F,N143T,N592S,P112A,Q181K,T82I" "0,0,0,0,0,0,0,0" 7100 2843 sw8600;spmut1027;dbsnp27666;dbsnp27667;dbsnp27668 KAT6A_HUMAN;NP_001092883.1;NP_006757.2;NP_001092882.1 "A1442T,D395E,E112D,E1361G,I1729L,K343N,K355N,L134S,M1931V,M482K,P1160S,P1651L,Q1285H,Q1636H,R1131H,R1278C,R845C,R971C,V1193I,V1502M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7994 422 sw8601;dbsnp5199 N42L2_HUMAN;NP_055702.1 "A112T,G209V,G452D,H79R,I291V,P87H,R525Q,T30A,T76K,V276E,W268C,Y117C,Y272H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10443 3594 sw8602;spmut784 GOGA1_HUMAN "L317V,N220S,T425M" "0,0,0" 2800 3462 sw8603 IRK9_HUMAN A366V 0 3765 6632 sw8604;dbsnp5434;dbsnp5436 IOD2_HUMAN;NP_000784.2;NP_054644.1 "A81D,L4H,T92A" "0,0,0" 1734 10676 sw8605;dbsnp8902 EVPL_HUMAN;NP_001979.2 "A350V,A929V,C758S,D145N,D444E,D736E,E1162K,E1209K,E1562D,E879Q,E961D,G169R,H1934Q,H446Q,I1686F,I1686V,I1986T,K1189E,K1521R,K756R,L692I,L692V,L769P,L890F,N49S,P1453L,P1814S,Q1295R,Q433R,Q451K,Q75R,R1195C,R134C,R134H,R154H,R1561Q,R1741H,R1952H,R1990Q,R1990W,R2001C,R297P,R336S,R498H,R533Q,R719L,R829H,R85H,R882K,R930W,S1748Y,S763R,S852R,T1168M,T1490I,V1001M,V1196I,V1539L,V1931M,W1483R,Y1520H,Y168C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2125 409 sw8607;sws967;dbsnp26456 NRCAM_HUMAN;NP_001032209.1 "A1285T,A260T,E111Q,E900G,G494R,G999S,I301V,K902T,N619S,P453A,P545A,R853C,R897H,R897L,S495N,S519N,T678A,V854A,Y554H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4897 1157 sw8608;dbsnp10041;hgmd0613_1495 HXB13_HUMAN;NP_006352.2 "G84E,R217C,T41M" "0,0,0" 10481 8828 sw8609;dbsnp28641;dbsnp28642 COR2A_HUMAN;NP_438171.1;NP_003380.3 "A144T,A145T,A211V,D27H,D27N,D37N,G269S,H81Q,K462N,L497I,Q115R,R205W,R296H,R339C,R425Q,R495L,R8Q,T122M,T380M,T466I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7464 6210 sw8610;spmut1025;dbsnp20995 KAT2B_HUMAN;NP_003875.3 "I255L,M467V,N386S,P713T,R653W,S689T" "0,0,0,0,0,0" 8850 2992 sw8611;sws968;dbsnp2298 NELL1_HUMAN;NP_006148.2 "A153T,A248S,A248T,E270D,E382D,F211V,G483S,G526S,G638A,G638E,H52Y,L457S,P311L,Q195R,Q715H,R193C,R193H,R354W,R387H,R775W,R82Q,R82W,V287I,V509M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4745 2794 sw8612;spmut1826 RPGR_HUMAN "A262G,G566E,I431V,I75V,N345D,R425K,S76I,T533M" "1,0,0,1,0,0,0,0" 6103 1547 sw8613;sws969 SHIP1_HUMAN H1169Y 0 3635 1451 sw8615;dbsnp11689 HAS1_HUMAN;NP_001514.2 "A430V,A92V,C14R,L250F,L321F,R21W,R259W,R268Q,R396W,T490A,V415M" "0,0,0,0,0,0,0,0,0,0,0" 3036 5445 sw8616 B2CL2_HUMAN Q133R 0 599 10077 sw8617;spmut2098;dbsnp18439;dbsnp18440 TANK_HUMAN;NP_004171.2;NP_001186064.1 "C75W,D379N,G136S,G292R,K109E,P358L,Q113E,R394G,R394Q" "0,0,0,0,0,0,0,0,0" 10010 8040 sw8618;dbsnp14595 KIFA3_HUMAN;NP_055785.2 "E516D,F434C,F755L,L86R,S513A,T36A,V33L" "0,0,0,0,0,0,0" 22920 3275 sw8620;sws971;spmut274;dbsnp18342 CASPA_HUMAN;NP_116756.2 "E53K,G318E,I406L,K305E,L285F,M473I,P228L,P444S,R21H,S239C,S519R,V410I,Y446C" "0,0,1,0,1,0,0,0,0,0,0,1,0" 843 6247 sw8621;spmut1891;dbsnp28965 SEM4D_HUMAN;NP_006369.3 "A327T,A72T,A75T,E335D,G340R,G592D,G693R,I27M,I452T,L532V,L728F,M1I,P703S,R294Q,R562W,S282F,S403L,S731N,T31I,V248L,V530M,Y436C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10507 2819 sw8622;dbsnp22423 ATOH1_HUMAN;NP_005163.1 "D138E,E45Q,G270R,H237Q,P225R,R273G" "0,0,0,0,0,0" 474 9558 sw8623;dbsnp6713 NEO1_HUMAN;NP_002490.2 "C1321Y,D106G,D1259H,D99N,M1204V,N1298Y,N168S,N394D,N394Y,P181L,P534L,R1130C,R1192H,S1203C,S304N,T1319R,T371I,T886A,V751I,V963I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4756 887 sw8624;dbsnp12269;dbsnp12270 KLK6_HUMAN;NP_001012982.1;NP_002765.1 "D148G,H206Q,I11T,L46F,R78W,R91W,T234M" "0,0,0,0,0,0,0" 5653 10762 sw8625;spmut1695;dbsnp23125 RAD50_HUMAN;NP_005723.2 "A232D,A512S,D637E,D855Y,E468K,G469A,H1041R,I1085V,I94L,K446E,K616E,K973M,R1038G,R1152Q,R193W,R224H,R327H,R726H,R883C,T191I,V127I,V315L,V697A,V842A,Y964H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10111 1142 sw8626;dbsnp28692 OSTF1_HUMAN;NP_036515.4 "D209N,D209Y,L159F,L160V,N48S,Q157H" "0,0,0,0,0,0" 26578 12653 sw8627;spmut1275 MRP2_HUMAN "F562L,Y39F" "0,0" 1244 780 sw8628;sws972;spmut124;dbsnp11464 ARHG1_HUMAN;NP_004697.2 "L287P,L357R,N640T,P375L,P909T,R253W" "0,0,0,0,0,0" 9138 2449 sw862;spmut2235;dbsnp13649 TSN1_HUMAN;NP_005718.2 "M230I,S38F,T142N,V215M,V87M" "0,0,0,0,0" 10103 12093 sw8630;dbsnp17715 UFD1_HUMAN;NP_005650.2 P130A 0 7353 10712 sw8631;spmut1735 RENT1_HUMAN A69S 0 5976 1632 sw8632;dbsnp8051 RL3L_HUMAN;NP_005052.1 "A260P,A260T,A338G,A51T,A75V,A94T,G12R,G187S,G296R,H354Y,H42Y,P291L,P401L,R138Q,R174W,R200Q,R226Q,R242W,R277C,R378H,S212T,T44M,V262M,V360M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6123 8438 sw8634;sws973;dbsnp22397 CDS1_HUMAN;NP_001254.2 "G48A,H124N,I366F,I43T,L190V,L99F,P140L,P435A,S356G,S424N,V318E" "0,0,0,0,0,0,0,0,0,0,0" 1040 7391 sw8639;dbsnp9196 FGF11_HUMAN;NP_004103.1 "P95A,R163C,R163G" "0,0,0" 2256 12438 sw863;dbsnp14346 TSN2_HUMAN;NP_005716.2 "D134E,F99S,G39R,R118L,R82W,V209A" "0,0,0,0,0,0" 10100 12508 sw8641;sws974;dbsnp11920 M4K1_HUMAN;NP_009112.1 "N811S,P312T,P351S,P361L,Q419H,R70W" "0,0,0,0,0,0" 11184 3017 sw8642;dbsnp20557 SMRC1_HUMAN;NP_003065.3 "A181T,D370V,M582I,N1071D,N163S,P1075H,P1075L,R299Q,Y454C,Y454D" "0,0,0,0,0,0,0,0,0,0" 6599 1384 sw8643;sws975;spmut1660;dbsnp26084 PTPR2_HUMAN;NP_002838.2 "A164V,A197G,A355V,A369T,A751V,A791V,A85T,D384N,E190K,E214K,E507K,G144S,G207R,G323R,L388H,M477I,P367S,P478S,P759L,Q1015H,R213H,R349G,R372H,R528W,R535C,S140T,S208P,S247G,S325N,S463L,T203I,V133I,V343M,V84G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5799 2045 sw8644;dbsnp2038;dbsnp2039 BAD_HUMAN;NP_004313.1;NP_116784.1 "A107S,W154C" "0,0" 572 13574 sw8645;dbsnp13867 EXTL1_HUMAN;NP_004446.2 "D94N,E281K,G250A,G607D,H379N,P206L,P621Q,R163H,R251C,R263C,R263H,R279C,R279H,R285C,R520Q,R667G,S17F,S28C,S79R,V310F,V69I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2134 4309 sw8647;sws976;dbsnp27910 KCNB2_HUMAN;NP_004761.2 "E657G,H688R,N287S,N83H,P856L" "0,0,0,0,0" 9312 2551 sw8648;dbsnp13387 PRG4_HUMAN;NP_005798.2 "A672V,A750T,A906V,D1121N,D1123A,D220A,E403K,E481K,E655K,E687K,G1190D,I1272T,K272I,K410N,K442E,K796E,L632P,N1130S,N187T,P1050A,P1322S,P214R,P404R,P461T,P469T,P783S,P839H,Q1074H,R1053C,R1183H,R180W,R62K,R925H,S815T,T1296M,T238M,T361I,T478A,T604A,T704P,T736S,T821I,T837A,T920I,T987I,V1349M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10216 973 sw8649;dbsnp12829 TNR14_HUMAN;NP_003811.2 "A117T,G174E,H200Y,K17R,V20I,V241I" "0,0,0,0,0,0" 8764 11223 sw864;sws98;dbsnp18153 UD19_HUMAN;NP_066307.1 "A508P,C183G,C3Y,E460D,G305E,K129N,L471M,M33T,P361L,P448L,R208W,R400H,R439C,R88W,S141C,S485C,S485F,V167A,V265E,V265M,Y176H,Y261H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54600 6067 sw8650;dbsnp21090;hgmd0613_1403 SO2A1_HUMAN;NP_005621.2 "A281T,A302P,A396T,A500T,A639V,E123K,E165D,F557S,G222R,G255E,M539V,N462S,P162A,P283S,P431A,P431T,R445C,R582Q,S506T,V228I,V525M,Y613H" "0,0,0,0,0,0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0" 6578 4663 sw8651;dbsnp28744 SNPC3_HUMAN;NP_001034786.1 "C11Y,C27Y,E398A,I227M,M1I,N28S,N28T,N368H" "0,0,0,0,0,0,0,0" 6619 8356 sw8653;dbsnp24022 TNPO1_HUMAN;NP_002261.3 "D34E,V847I" "0,0" 3842 2623 sw8654;dbsnp3839 NEP1_HUMAN;NP_006322.4 "A34G,D86G,F167L,S225F,T235I" "0,1,0,0,0" 10436 12036 sw8655;dbsnp28671 NINJ1_HUMAN;NP_004139.2 "A110D,A61T,N60S" "0,0,0" 4814 13882 sw8656;spmut988;dbsnp1664 IRF7_HUMAN;NP_001563.2 "A258V,D204N,G214E,H195L,K179E,Q412R,R126W,R37H,T208I" "0,0,0,0,0,0,0,0,0" 3665 6380 sw8657;spmut773;dbsnp14872 GLMN_HUMAN;NP_444504.1 "A146T,D20N,D43A,D91N,G40R,H319P,I300T,I48M,L336S,L494F,M286V,M387V,N490S,Y353H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11146 5211 sw8658;spmut1026;dbsnp2415 KAT5_HUMAN;NP_006379.2 "P78T,P84R,P84S" "0,0,0" 10524 5900 sw8659;sws978;dbsnp21600 DVL3_HUMAN;NP_004414.3 "D132G,T198I,W433L" "0,0,0" 1857 3737 sw865;dbsnp19155 KBTBA_HUMAN;NP_006054.2 "A271T,G133D,I66T,L288R,L305F,M481V,S3F,V218M,V396L" "0,0,0,0,0,0,0,0,0" 10324 4893 sw8660;dbsnp20349;dbsnp20351 NAT6_HUMAN;NP_001186947.1;NP_001186945.1 "R145S,R145W,R222W,T207S,V119I" "1,0,0,1,0" 24142 10702 sw8661;dbsnp13671;dbsnp13672;dbsnp13673 IGSF2_HUMAN;NP_004249.2;NP_001243035.1;NP_001243038.1 "A327T,A374V,A436S,D759V,G157S,G228V,L362P,L955F,M415V,N225S,N556D,N704S,Q100R,Q470H,R518Q,R622H,R747G,R833H,R886C,R933L,R933Q,R988C,R992W,S202F,S525R,T1008A,T126N,T631S,V70D,V839I,V965I,Y651D,Y819C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9398 2022 sw8662;spmut2184;dbsnp14523 TNR25_HUMAN;NP_003781.1 "A14V,A59G,D159G,D237N,P254R,R198K,R23Q,R32K,R370L,R381H,T223I" "0,0,0,0,0,0,0,0,0,0,0" 8718 8027 sw8663;spmut1133;dbsnp20762;dbsnp20763 LPP_HUMAN;NP_001161143.1;NP_005569.1 "A290G,C262R,E298G,E411K,E426K,G17S,G309D,G573S,I356V,I601V,P167L,P186H,P363S,R268Q,R295H,R388C,R418G,R600H,S151P,S155L,S246L,S259P,T146A,T212M,Y346H,Y495C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4026 5000 sw8664;dbsnp2145;hgmd0613_2501 EXT2_HUMAN;NP_997005.1 "A202V,C85R,D158E,D227N,E530K,E576K,I380T,L152R,M174L,M370I,M42V,M87R,N99I,P341L,P450L,R179S,R223P,R322H,R393Q,R95H,S237L,T170I,T587M,V120I,V340I,V363M,V512L,V638I" "1,1,0,1,0,1,1,1,0,0,0,0,0,0,0,1,1,0,0,0,1,0,1,0,0,0,0,0" 2132 3600 sw8665 NAR4_HUMAN N265D 0 420 10544 sw8667;dbsnp19970 TATD2_HUMAN;NP_055575.3 "D404N,G113E,H217R,M416T,N578S,P116L,P224A,P358L,P86S,R67W,R76H,S308C,S719N,V256I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9797 3509 sw8668;sws979;dbsnp8783 AT2A3_HUMAN;NP_777615.1 E1036G 0 489 1890 sw8669;dbsnp23134 BHMT1_HUMAN;NP_001704.2 "A250S,G199S,G372C,P197S,R108Q,R239Q" "0,0,0,0,0,0" 635 8463 sw8670;dbsnp5490 RNAS6_HUMAN;NP_005606.1 "C4S,K97R,L3P,P131L,P43L,P6L,Q113L,R89Q,S96A" "0,0,0,0,0,0,0,0,0" 6039 13799 sw8671;sws980;dbsnp507 WNT8B_HUMAN;NP_003384.2 "C11S,V43A" "0,0" 7479 9627 sw8674 1B38_HUMAN "E82G,I104T" "0,0" 3106 7735 sw8675;spmut894;dbsnp13661 HMR1_HUMAN;NP_001522.1 "A77V,D79V,E241K,H39R,L173Q,P203S,R31H,R63Q" "0,0,0,0,0,0,0,0" 3140 9878 sw8677 2B1C_HUMAN "E88Q,E98G" "0,0" 3123 11408 sw8678;dbsnp12224 SCAM4_HUMAN;NP_524558.1 "A49T,P199L,S161L" "0,0,0" 113178 12240 sw8679;dbsnp664 UCN3_HUMAN;NP_444277.2 "A149T,E77K,G89R,R91G" "0,0,0,0" 114131 13698 sw867;dbsnp10767 PLIN3_HUMAN;NP_005808.3 "A119V,A215T,A96V,D332V,D4N,F221L,G171S,I56V,L107I,Q284E,R238H,R393H,T412I,V237I,V275A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10226 7874 sw8680;dbsnp30109;dbsnp30110 TCAL3_HUMAN;NP_116315.1;NP_001006934.1 "G180S,G82D,P175S,Q178R,Q87E" "0,0,0,0,0" 85012 12843 sw8681;dbsnp29881 FATE1_HUMAN;NP_149076.1 "A10V,E100Q,I34T,R109H,R43Q,S125R" "0,0,0,0,0,0" 89885 13309 sw8682;spmut1365;dbsnp23841 NKD2_HUMAN;NP_149111.1 "M144K,Q387H,R197H,R209K,R315W,R33L,R386C,R41Q,T127M,T257K,T417M" "0,0,0,0,0,0,0,0,0,0,0" 85409 7577 sw8686;dbsnp10113 SMCE1_HUMAN;NP_003070.3 "G360D,N356S,V319I,Y73C" "0,0,0,0" 6605 8357 sw8687;dbsnp1638 PRDBP_HUMAN;NP_659477.2 "A104T,A22P,G163R,G213A,L158P,L228Q,L255F,R59H,R59L,R8P" "0,0,0,0,0,0,0,0,0,0" 112464 11678 sw8688;sws983;dbsnp22132 FBXW7_HUMAN;NP_361014.1 "E115K,P160L,R133G,R20G,R465C,R505L,S668G,T144R" "0,0,0,0,1,1,0,0" 55294 4011 sw868;dbsnp3885 MOT2_HUMAN;NP_004722.2 "E447V,F346V,N201S,N477K,R86Q,S219I,S299F,S299T,T445S" "0,0,0,0,0,0,0,0,0" 9194 6656 sw8690;dbsnp11384 CS010_HUMAN;NP_061980.1 "D86A,G12R,H53Q,S169L,T36R" "0,0,0,0,0" 56005 13486 sw8691;dbsnp19350 DIRC1_HUMAN;NP_443184.1 "C88G,L92S,N45Y,S51A" "0,0,0,0" 116093 14595 sw8692;dbsnp3785;dbsnp3786 S38A4_HUMAN;NP_060488.2;NP_001137296.1 "G29R,I202V,M287T,P411A,R452Q,T366M,T373M" "0,0,0,0,0,0,0" 55089 5884 sw8693;dbsnp25146 ZKSC4_HUMAN;NP_061983.2 "K29E,L22F,R309K,R498W,S33F" "0,0,0,0,0" 387032 5916 sw8694;dbsnp3858 L12R1_HUMAN;NP_477517.1 "D191N,D191Y,G162D,K141R,R45Q,S41C" "0,0,0,0,0,0" 118426 13053 sw8695;dbsnp25313 I22R2_HUMAN;NP_443194.1 "E190K,F14V,G133R,L16P,N106T,P181Q,Q245R,S74T,T149M" "0,0,0,0,0,0,0,0,0" 116379 11625 sw8696;dbsnp14375 TMM54_HUMAN;NP_277039.1 "A68V,A77T,L110F,L159F,S216C" "0,0,0,0,0" 113452 12492 sw8697;dbsnp27556 MAL2_HUMAN;NP_443118.1 A92T 0 114569 13434 sw8698;spmut1539;dbsnp16674 PIGT_HUMAN;NP_057021.2 "A354V,A473T,D257A,R178Q,R209H,R356Q,S412R,T269M,T457K,T457M,V123L" "0,0,0,0,0,0,0,0,0,0,0" 51604 5446 sw8699;dbsnp25073 TAAR8_HUMAN;NP_444508.1 "A37V,D328A,G149V,I192T,Q11R,S153N,T232S,V145M,V211D" "0,0,0,0,0,0,0,0,0" 83551 9712 sw869;dbsnp23210 RAD1_HUMAN;NP_002844.1 "A33G,E281G,G114D,H39Q,T104S,Y203C" "0,0,0,0,0,0" 5810 11229 sw8700;spmut677;dbsnp27736 FBX32_HUMAN;NP_478136.1 "G89A,N56S,R244W,R302Q,T224A" "0,0,0,0,0" 114907 11662 sw8701;dbsnp27548 TOP1M_HUMAN;NP_443195.1 "A233V,A64T,D319H,D319N,E140D,E45K,P396T,Q171R,Q35R,R111Q,R198C,R241H,R344C,R457P,R525W,R585Q,T247M,T485M,V256I,V338L,Y104C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116447 3472 sw8702;dbsnp5578 RL36L_HUMAN;NP_000992.1 "I66V,L33F" "0,0" 6166 13851 sw8703;spmut2215;dbsnp13743;hgmd0613_2175 TRI63_HUMAN;NP_115977.2 "A218V,A48V,D338Y,E269K,K237E,P57L,R196Q" "0,1,0,0,0,0,0" 84676 5871 sw8704;dbsnp5064 ARL11_HUMAN;NP_612459.1 "C148R,E164K,G65V,H186R,H186Y,K10N,L120M,P131L,S22L" "0,0,0,0,0,0,0,0,0" 115761 13054 sw8705;dbsnp17739 OSBP2_HUMAN;NP_110385.1 "D458Y,D613N,F204L,K121E,L137F,M760V,P629H,R423Q,S642R,S673T,T482R" "0,0,0,0,0,0,0,0,0,0,0" 23762 2520 sw8706;dbsnp17523 LMBL2_HUMAN;NP_113676.2 "A607S,C531Y,I7V,L301V,R300W,R34P,R673H,V337A,V562L" "0,0,0,0,0,0,0,0,0" 83746 4037 sw8707;spmut1340;dbsnp27788;dbsnp27789 NEIL2_HUMAN;NP_659480.1;NP_001129218.1 "A35T,D114Y,E305K,G249S,G26A,H168Y,L98P,P123L,P304T,P69A,Q21E,R103Q,R103W,R257L,T70S,V108I,V297F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 252969 10093 sw8708;spmut848;dbsnp17674 HDA10_HUMAN;NP_114408.3 "A103V,A139V,A536T,A85V,E535D,G133R,G553S,G584C,K80E,M333V,N612D,P395R,P483L,Q586R,R216Q,R411L,R496W,T418M,V429I,V544I,V544L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83933 4383 sw8709;dbsnp23099 RRF2M_HUMAN;NP_115756.2 "A475V,D576E,E594G,E608V,E735G,F609I,F609Y,G738D,H60N,I15V,I627T,I728T,K334R,N629D,N64S,P425H,Q312E,R412C,R573H,R744G,R744Q,R774Q,S300C,S662T,V235M,V327L,Y357C,Y363C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84340 3371 sw870;dbsnp24345 DPOLZ_HUMAN;NP_002903.3 "C2426R,D1203N,D1713N,D1812H,E2015V,E2104K,F405Y,G1923R,I1327V,I2075M,I2115S,I559V,K1158N,K1232I,K1540E,L54V,M1483K,M354V,M693T,N1335S,N1405S,N2252S,N2672S,P1031L,P1339T,P1791S,P2679L,P434T,P823L,Q1309H,Q1426R,Q1469P,Q231H,Q397P,R1970H,R2562C,R2762Q,R962Q,S1220L,S1253G,S1302T,S1576L,S1724T,S1869I,S2607T,S389T,S633G,T1224I,T1284P,T1372A,T496A,T818A,V1187I,V3064I,Y1156C,Y2113C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5980 131 sw8710;dbsnp16353 SNX21_HUMAN;NP_219489.1 "A112G,A154T,A36T,D117N,F175L,H179P,R13Q,R3G,V226M,Y148C" "0,0,0,0,0,0,0,0,0,0" 90203 9134 sw8711;spmut2265 UB2E3_HUMAN W201R 0 10477 12810 sw8713;spmut683;dbsnp28884 FBXW5_HUMAN;NP_061871.1 "A131T,A171T,A179V,D150G,D211G,E228K,E340K,F159L,F474I,K347R,M453T,R183H,R208C,R208H,R237Q,R237W,R341H,R458G,R458W,R508Q" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54461 5601 sw8714;dbsnp25549;dbsnp25550 MCHR2_HUMAN;NP_001035269.1;NP_115892.2 "C216S,R152Q,R63K" "0,0,0" 84539 9903 sw8715;dbsnp11429 NCLN_HUMAN;NP_064555.2 "E214D,H494R,K551R,V558L" "0,0,0,0" 56926 5639 sw8716;dbsnp8984 TEKT1_HUMAN;NP_444515.1 "A140S,A228P,D273G,D386N,E68K,I146V,N234K,R232Q,R254C,S190L,T249I,T249R,V332I,V407L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83659 8204 sw8717;dbsnp17405 MKL1_HUMAN;NP_065882.1 "A396T,A434T,D661N,E126K,L649I,M876I,P180A,P306H,P344L,P634S,P717S,R378Q,S191T,S648G,T305N,T485M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57591 2427 sw8718;spmut1577;dbsnp16693 PMEPA_HUMAN;NP_064567.2 "E128D,P268L" "0,0" 56937 10739 sw8719;dbsnp18533 LFG3_HUMAN;NP_071435.2 "A289T,L170F,P21L,P43L,P8R,R159C" "0,0,0,0,0,0" 64114 10633 sw871;sws99;dbsnp28638;hgmd0613_1288 JAK2_HUMAN;NP_004963.1 "A377E,C480F,D1096E,D584E,E577K,E846D,G127D,G417S,G571S,H587N,I136L,K191Q,K244R,K346R,K539L,K607N,L113V,L383V,L393V,N1108S,N337D,N986K,R1063H,V617I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0,0,0,0,0,0,0,1" 3717 1618 sw8721;dbsnp20569;dbsnp20570 NXPE3_HUMAN;NP_001127928.1;NP_659474.1 "G319R,H423Q,N26S,N430S,T507I,T527S" "0,0,0,0,0,0" 91775 5702 sw8722;dbsnp11546 GTPB3_HUMAN;NP_116009.2 "A162T,M335I,P119L,P362S,P392R,Q316R,R189C,R368H,V250A,V418M,Y205C" "0,0,0,0,0,0,0,0,0,0,0" 84705 6229 sw8723;dbsnp26287 TBRG4_HUMAN;NP_004740.2 "A22S,A267V,A624V,G442S,I437V,L366P,M621V,N98H,P57L,V227I" "0,0,0,0,0,0,0,0,0,0" 9238 4787 sw8724;dbsnp14042 MOSC2_HUMAN;NP_060368.2 "A176V,A3S,G244S,M231L,M334L,R46S,S141F" "0,0,0,0,0,0,0" 54996 9963 sw8725;dbsnp2542;dbsnp2543 TR19L_HUMAN;NP_116260.2;NP_689408.1 "A267V,A315T,A332V,D39H,G333R,G400R,I224T,M363V,N220S,P212R,P384S,Q252E,R152Q,R338P,R422W,S257R,T256M,T343N,V367E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84957 7946 sw8726 CA182_HUMAN S54L 0 128229 14329 sw8727;dbsnp2130 G3ST3_HUMAN;NP_149025.1 "A221D,E410A,R131C" "0,0,0" 89792 7929 sw8728;dbsnp2230 CK052_HUMAN;NP_542390.2 "R114P,T23R,V56L" "0,0,0" 91894 14358 sw8729;dbsnp21448 F162A_HUMAN;NP_055182.3 "A50V,S3N" "0,0" 26355 13832 sw872;dbsnp16147 CST8_HUMAN;NP_005483.1 "A142P,A52V,K97Q,R92C,R92H,S93R,T29I,V31L" "0,0,0,0,0,0,0,0" 10047 14045 sw873 ANM3_HUMAN S508N 0 10196 6108 sw8730;dbsnp13881 SLAF9_HUMAN;NP_254273.2 "A32V,D164H,E181K,I127L,I97F,V86M" "0,0,0,0,0,0" 89886 11123 sw8732;dbsnp27858 T53I1_HUMAN;NP_150601.1 "C75R,H219Q,Q193R" "0,0,0" 94241 12125 sw8734;dbsnp14743 ADC_HUMAN;NP_443724.1 "A253V,A288S,E225K,H188N,K229R,M387T,N72K,P148S,Q120H,T27S,V323M,V361F,V367M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 113451 7393 sw8735 EMID2_HUMAN P427L 0 136227 7744 sw8739;sws987;dbsnp23418 JKIP2_HUMAN;NP_055605.2 "R122H,R142W,V106I" "0,0,0" 9832 3145 sw8740;dbsnp7442 NTAN1_HUMAN;NP_775745.1 "A192P,E171K,H283N,I268V,R133T,S287P" "0,0,0,0,0,0" 123803 10652 sw8741;dbsnp27874 KIFC2_HUMAN;NP_665697.1 "E174K,G394R,G67E,I202F,P185S,P784L,Q200H,R324H,S166F,T180A" "0,0,0,0,0,0,0,0,0,0" 90990 2977 sw8743;dbsnp14695 FUBP1_HUMAN;NP_003893.2 "A408E,I399K,I402V,Q81H,T326I,T530A,Y438C" "0,0,0,0,0,0,0" 8880 3962 sw8744;dbsnp2506 TTC17_HUMAN;NP_060729.2 "D123N,E329G,G813V,I145L,K890E,N270H,N528S,N685S,N950S,R892H,S297N,Y992H" "0,0,0,0,0,0,0,0,0,0,0,0" 55761 1581 sw8745;dbsnp19033 SOSB2_HUMAN;NP_001026886.1 "E157G,N5S,T154S" "0,0,0" 64859 12719 sw8746;dbsnp7289 CLUA1_HUMAN;NP_055856.1 "A107V,A68S,D362N,G131C,I134T,K200E,K307Q,N411S,R401W,T338P,T75N,V196F" "0,0,0,0,0,0,0,0,0,0,0,0" 23059 8316 sw8747;dbsnp2419;dbsnp2420 MRGRF_HUMAN;NP_001091985.1;NP_659452.3 "K16R,R75G" "0,0" 116535 9837 sw8748;dbsnp11604 TM143_HUMAN;NP_060743.2 "A105S,A242V,D143N,G222V,L283V,L9F,P159T,P426L,P426R,Q151R,Q195R,R121W,S92T" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55260 7417 sw8749;dbsnp7282 ACD_HUMAN;NP_001075955.1 "D123N,F531S,G394E,P543L,R113Q,S247L,T280I,T291A,T301M,V518A,V94I" "0,0,0,0,0,0,0,0,0,0,0" 65057 5930 sw8750;dbsnp24458 ZUFSP_HUMAN;NP_659499.2 "E469G,F221L,I484T,K316R,K392E,K77I,N379D,N503K,N79H,R537W,S132N,V228L" "0,0,0,0,0,0,0,0,0,0,0,0" 221302 5447 sw8751;dbsnp2565 ESAM_HUMAN;NP_620411.2 "A386V,G115V,G275S,I290V,N11S,P25L,P96T,R107W,R206H,R273C,V376M" "0,0,0,0,0,0,0,0,0,0,0" 90952 8798 sw8752;dbsnp18029 CC74A_HUMAN;NP_620125.1 "A153V,A367V,E360K,E54K,E81K,F59L,G122R,G302R,H86R,I90R,N357Y,P127R,R141W,R151H,R161C,R161H,R267Q,R294Q,R361G,R372C,R375G,S201P,S333A,T159I,T322M,T329I,V200I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90557 8977 sw8753;sws988;dbsnp15066 TM125_HUMAN;NP_653227.1 "A112D,A136T,A146T,S120G,V123M" "0,0,0,0,0" 128218 12549 sw8754;dbsnp13525 PBIP1_HUMAN;NP_065385.2 "A202S,C594Y,D48N,E166A,E179D,E321K,G189R,G356D,G357D,G451E,G451V,L338H,L404Q,R144C,R163W,R314Q,R499Q,R543K,R655C,S469F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57326 3773 sw8755;dbsnp24906 CC90A_HUMAN;NP_001026883.1 "S108G,T216A" "0,0" 63933 9453 sw8756;dbsnp13493 F131C_HUMAN;NP_872429.2 "D170H,E226D,K48E,K96R,M105T,P123R,P259L,P260L,Q187R,R107Q,R245W,R74C,S215I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 348487 11274 sw8757;dbsnp21429 K1143_HUMAN;NP_065747.1 "I139M,P31T,Q6R,S115G" "0,0,0,0" 57456 13833 sw8758;spmut567;dbsnp3309 E2F7_HUMAN;NP_976328.2 "A78V,D120G,D324A,F72L,G570E,H854Q,K693E,K886R,M626V,P275R,R38P,R645T,S214N,T165N,V310G,V3L,V522M,V844M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144455 2552 sw8759;dbsnp4237 VP33A_HUMAN;NP_075067.2 "C163Y,H440Y,I256L,I92L,R116C,S496N,V114L" "0,0,0,0,0,0,0" 65082 5185 sw8760;dbsnp9640 RAB37_HUMAN;NP_001006639.1 "G41S,S19C" "0,0" 326624 11789 sw8762;dbsnp9157 EME1_HUMAN;NP_689676.2 "A423T,A466P,D326N,E69D,E86G,F435L,F63L,G13A,I350T,I49V,K5N,N189K,P245Q,Q196R,R217K,R317Q,R452Q,R533C,R552C,V347I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146956 5372 sw8763;dbsnp9681;hgmd0613_2004 FKB10_HUMAN;NP_068758.3 "D143N,E516K,G318V,I436T,I455V,K197R,P277A,P277T,P519L,R556H,S419L" "0,0,0,0,0,0,0,0,0,0,0" 60681 5379 sw8764;dbsnp4392 MT21B_HUMAN;NP_056248.2 "G97A,I176T,R207Q,S28L" "0,0,0,0" 25895 12414 sw8765;dbsnp4082 R51A1_HUMAN;NP_001124334.1 "E109G,G311R,K68Q,M136V,P10A,S227C,S310F,S36F,S36Y,V163I,V258A,Y95C" "0,0,0,0,0,0,0,0,0,0,0,0" 10635 9606 sw8766;dbsnp1461 TM45B_HUMAN;NP_620143.1 "H72Q,I17T,M127T,M1L,S160N,T59I,V58I" "0,0,0,0,0,0,0" 120224 11369 sw8767;dbsnp27538 CLD23_HUMAN;NP_919260.2 "P232S,V210M" "0,0" 137075 11046 sw8768;spmut81;dbsnp12768;dbsnp12769 AKTS1_HUMAN;NP_001092103.1;NP_001092102.1 "A47P,D106H" "0,0" 84335 11785 sw8769;dbsnp11245 LENG9_HUMAN;NP_945339.2 "E261A,E262A,E291K,E375K,G231E,G381E,G442E,G490A,G490E,G490V,G8R,H153R,I380T,L392I,M1K,R319C,R499P,R55S,S436N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94059 6640 sw8770 RGMA_HUMAN D415E 0 56963 7446 sw8771;dbsnp7390 TM159_HUMAN;NP_065155.3 "E154D,F97L,G107S,I92V,L106F,S93Y" "0,0,0,0,0,0" 57146 13699 sw8772;dbsnp30414 SH3K1_HUMAN;NP_114098.1 "G561S,P382L,Q541E,R650Q,S567T,V139I,V395I" "0,0,0,0,0,0,0" 30011 4423 sw8773;spmut419;dbsnp2757 CR3L1_HUMAN;NP_443086.1 "A411T,D200V,D93N,E484D,P174L,R439H,T514N" "0,0,0,0,0,0,0" 90993 6332 sw8774;dbsnp16125 SO4A1_HUMAN;NP_057438.3 "A532T,D25H,G489S,G544S,H191R,L329F,L99F,P512S,P94S,R206K,R206M,R450G,R450W,R70Q,S693L,T301A,T538M,T540M,V679I,V78I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 28231 3861 sw8775;dbsnp2040 PF21A_HUMAN;NP_001095272.1 "A316T,A671V,E584A,I604V,N115S,R347H,T650I,T650N,V493I" "0,0,0,0,0,0,0,0,0" 51317 4271 sw8776;dbsnp10480;dbsnp10481 SKA1_HUMAN;NP_001034624.1;NP_659497.1 "D80N,G107V,H86L,H86R,V230M,V91I" "0,0,0,0,0,0" 220134 11804 sw8777;dbsnp12054 TMIG2_HUMAN;NP_653216.2 "A109T,A202P,A64V,F191L,G108R,G275A,P138L,P240S,P248L,Q33K,R144W,R54Q,R56C,R86W,S88C,T50P,V154L,V167M,V195I,W168L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 126259 11234 sw8778;dbsnp11462 ESPB1_HUMAN;NP_071425.3 "C100W,D170N,D215N,E199K,F186S,G61S,L205P,P185L,P185T,R73C,S166R,T117M" "0,0,0,0,0,0,0,0,0,0,0,0" 64100 12476 sw8779;sws989;dbsnp1615;dbsnp1616 S22AI_HUMAN;NP_899056.2;NP_002546.3 "A204T,A6T,G220S,G292V,G62C,M416T,R12Q,R222Q,R22Q,R236Q,R309Q,R389C,R389H,R5Q,R86C,R86H,S358P,V328I,V395I,V399L,W324C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0" 5002 8061 sw877;dbsnp2516 LPXN_HUMAN;NP_004802.1 "E310Q,I218V,P148T,P27L,P57L,R325W,R339C" "0,0,0,0,0,0,0" 9404 5085 sw8781;spmut1546;dbsnp27445 PINX1_HUMAN;NP_060354.4 "E315A,K192E,K323R,Q206H,Q50H,R215I,R9W,S254C,T220A" "0,0,0,0,0,0,0,0,0" 54984 10198 sw8782;dbsnp5916;dbsnp5917 I27L1_HUMAN;NP_660292.1;NP_996832.1 "G10D,G35S,M1I,V14A" "0,0,0,0" 122509 14243 sw8783;dbsnp13697 TADA1_HUMAN;NP_444281.1 "D135N,R198Q,R325H" "0,0,0" 117143 10023 sw8784;dbsnp777 F149B_HUMAN;NP_775483.1 "A167S,A449P,G571R,I55F,R541C,S90F,V221I" "0,0,0,0,0,0,0" 317662 5380 sw8785;dbsnp23563 F105B_HUMAN;NP_612357.4 "M155L,N311S,Q115H,S227N" "0,0,0,0" 90268 9607 sw8786;dbsnp20970 FAM3D_HUMAN;NP_620160.1 "A118S,D148N,G138R,P60S,R35C,R35H,R87H" "0,0,0,0,0,0,0" 131177 12319 sw8787;dbsnp23630 CC127_HUMAN;NP_660308.1 "A86T,C219G,G208S,R60H,R61Q" "0,0,0,0,0" 133957 11704 sw8788;sws990;spmut1917;dbsnp28158;dbsnp28159 SGK3_HUMAN;NP_037389.4;NP_001028750.1 "D133G,E234G,H156N,I446S,L355P" "0,0,0,0,0" 23678 6199 sw8789;dbsnp13006 SELR1_HUMAN;NP_075565.2 "G182A,K219R,R48Q" "0,0,0" 65260 12308 sw878;dbsnp2374 CTND1_HUMAN;NP_001078927.1 "A200S,K881T,R464C,R915K,S171F,S905Y,Y217C" "0,0,0,0,0,0,0" 1500 2245 sw8790;dbsnp14181 ZN669_HUMAN;NP_079080.2 "C78Y,E76D,E80K,G460S,I242V,L405V,L5P,L82F,P26L,R239G,R270G,R6H,R6S,S128F,S400R,V154I,V461L,Y418C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79862 7325 sw8791;dbsnp13096 ZBT8A_HUMAN;NP_001035531.1 "E405G,G177V,G418A,I332V,I379T,K271E,R147H,R361C,R361S,V22I" "0,0,0,0,0,0,0,0,0,0" 653121 7745 sw8792;dbsnp7904 CENPT_HUMAN;NP_079358.3 "G381R,P115L,R122G,R39Q,S8R" "0,0,0,0,0" 80152 5668 sw8793 ZN775_HUMAN T428A 0 285971 6032 sw8794;dbsnp854;dbsnp855 PTER_HUMAN;NP_001001484.1;NP_109589.2 "E97G,G126R,I235L,M271I,P42L,R138G,R138W,R204W,R214Q,R282H,T146A" "0,0,0,0,0,0,0,0,0,0,0" 9317 9687 sw8795;dbsnp20758 TAM41_HUMAN;NP_620162.1 "I179V,N116S,P40S,R191G,S151P,V272M,Y91C" "0,0,0,0,0,0,0" 132001 10506 sw8796 ATG2B_HUMAN "I1567T,N1124D,Q1383E" "0,0,0" 55102 386 sw8797;spmut1872;dbsnp27952 SARAF_HUMAN;NP_057211.4 "K65N,P226S,P78T,R281K,V42I" "0,0,0,0,0" 51669 9927 sw8798;dbsnp5462 PLD4_HUMAN;NP_620145.2 "A109V,A307E,C16R,E27Q,F343L,G368S,I440V,K7E,V135M" "0,0,0,0,0,0,0,0,0" 122618 6546 sw8799;dbsnp12145 LENG1_HUMAN;NP_077292.1 "A65S,E233D,E95D,E97K,R205Q,R224W,R242Q,R256C,S176R" "0,0,0,0,0,0,0,0,0" 79165 11603 sw879;dbsnp6664;hgmd0613_1258 NCKX1_HUMAN;NP_004718.1 "E101V,E776Q,G839S,I471S,L313V,M623R,T37S,T400P,V268A,V311L,V608I,W922R" "0,0,0,0,0,0,0,0,0,0,0,0" 9187 1715 sw8800;dbsnp16675 TBC20_HUMAN;NP_653229.1 "N79S,T320M" "0,0" 128637 8522 sw8801;dbsnp25117 ZBTB9_HUMAN;NP_689948.1 "A12V,A268P,A274G,D132G,L43V,S155F" "0,0,0,0,0,0" 221504 7150 sw8802;dbsnp9502 MID49_HUMAN;NP_631901.2 "D14N,E323A,G174R,G272D,G324E,G410S,H79Q,I409V,R343Q,R354Q,S56N,V390M,V93A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 125170 7307 sw8803;spmut506;dbsnp8911 DHX58_HUMAN;NP_077024.2 "D179N,D475N,G608V,G616W,H137Y,H92R,N461S,Q187R,Q425R,Q546R,R224H,R334C,R473W,R523Q,R523W,R654H,R69H,R87C,R95Q,S176F,T136M,T76A,V129M,W8C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79132 4289 sw8804;dbsnp13138 FGGY_HUMAN;NP_060761.3 "A347S,A60V,D371H,F168L,G267V,G380D,G473S,I362V,K304R,L134V,L246V,N327H,N43K,Q331R,R436H,T286M,V191M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55277 5492 sw8805;dbsnp8102 ARMC5_HUMAN;NP_001098717.1 "A558T,D130E,F14Y,G323A,I170V,L156F,P559L,Q408R,S226T,S717N,V287I" "0,0,0,0,0,0,0,0,0,0,0" 79798 2408 sw8806;spmut744;dbsnp18816 GALM_HUMAN;NP_620156.1 "A258G,E94K,G142R,N190Y,P322A,R131H,Y201C" "0,0,0,0,0,0,0" 130589 9854 sw8807;dbsnp29726;dbsnp29727;dbsnp29728 SYTL4_HUMAN;NP_001167539.1;NP_001123368.1;NP_542775.2 "D252G,H481R,I36F,I420V,L574V,M646I,R279C,R661H,V500L" "0,0,0,0,0,0,0,0,0" 94121 4360 sw8808;dbsnp27733;dbsnp27734;dbsnp27735 ZN707_HUMAN;NP_001094069.1;NP_001094068.1;NP_776192.2 "M3V,P96H,T196M" "0,0,0" 286075 9184 sw8809 RUND1_HUMAN "E566K,L397M,V4I,W160R" "0,0,0,0" 146923 4992 sw880;dbsnp29040 CC14B_HUMAN;NP_201588.1 "G380R,I302T,I341T,L447F,R272H,S461P,T290I" "0,0,0,0,0,0,0" 8555 5779 sw8810;dbsnp20099 ULK4_HUMAN;NP_060356.2 "A1261V,A542T,A715T,I224V,K39R,K569R,L105M,L412V,L570F,L603S,L844M,M358V,N139K,N796S,P391S,P788A,Q639E,S1260N,S223N,S348G,S417P,S640A,T366S,T415M,V1126A,V18A,V686I,V851I,V963M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54986 1215 sw8811;dbsnp3876 CL043_HUMAN;NP_075046.1 "A168V,G44R,M31V,N227K,Q59H,R142H,R142P,R162Q" "0,0,0,0,0,0,0,0" 64897 11648 sw8812;dbsnp23330;dbsnp23331 ROP1L_HUMAN;NP_001188395.1;NP_114122.2 "A113V,L219S,L55F,N103K,P156R,S189Y,T167M,T187R" "0,0,0,0,0,0,0,0" 83853 12323 sw8813;spmut469;dbsnp2697 DCPS_HUMAN;NP_054745.1 "A184T,D3N,D76V,E29D,G226D,G73E,P326R,R257W,R264Q,R315H,S290A,Y177C" "0,0,0,0,0,0,0,0,0,0,0,0" 28960 9966 sw8814;dbsnp28530 SDCG3_HUMAN;NP_001034796.1 "A253V,D236E,E176G,I193M,L157V,P167L,R304Q,V379M,V428I" "0,0,0,0,0,0,0,0,0" 10807 7862 sw8815;spmut219;dbsnp16157 BIRC7_HUMAN;NP_647478.1 "A187G,A227V,C255F,E223Q,G112S,H164R,P204S,R206T,R244Q,R292H,R33H,R60W,R90H,T74I,V260M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79444 10913 sw8816;dbsnp27439 CH044_HUMAN;NP_062553.1 "F148S,Q131R,S106P" "0,0,0" 56260 13746 sw8817;dbsnp22389;dbsnp22390 INT12_HUMAN;NP_001135943.1;NP_065128.2 "G372V,T323A,V282F,V282I" "0,0,0,0" 57117 7365 sw8818;dbsnp12895 NSUN4_HUMAN;NP_950245.2 "I325T,I365V,L18F,N128K,R146G,T51A" "0,0,0,0,0,0" 387338 8912 sw8819;spmut1765;dbsnp7622 RHDF1_HUMAN;NP_071895.3 "A27V,A299V,H58Y,I673V,L442M,L756I,P296L,P765L,R206C,R239Q,R265Q,R265W,R308C,R597W,R82C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64285 2866 sw881;dbsnp29577 MAGC1_HUMAN;NP_005453.2 "A139T,A229P,A264P,A434T,C25Y,C747F,D541E,F155S,F206S,F252S,F260S,F276L,F276S,F354L,F365S,F381L,F400S,G377V,G73R,H327Q,H397Q,H467Q,H562Q,H709Y,I114S,I178L,I213L,I353L,I410T,L141V,L210S,L211V,L248I,L283I,L318I,L337P,L386V,L388I,L424F,L443V,L494P,M1T,P189T,P194A,P232L,P232S,P239R,P239S,P274R,P274S,P288S,P299A,P302L,P323S,P334A,P369A,P407L,P850S,Q222H,Q257H,Q292H,Q566R,Q93R,R1029H,R1057W,R204P,R917W,S13R,S171F,S177N,S185R,S205F,S217F,S240A,S241F,S253P,S258R,S267F,S267P,S287F,S293R,S309C,S309P,S311F,S406C,S450C,S484P,S647N,S797N,S841I,S853C,T151I,T221S,T224P,T256S,T364A,T905I,V1085A,V162A,V162L,V176L,V281L,V307G,V447G,Y453S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9947 1574 sw8820;dbsnp27965 CHM4C_HUMAN;NP_689497.1 "A232T,R152Q,R184H" "0,0,0" 92421 11589 sw8821;spmut2158;dbsnp22127 TIFA_HUMAN;NP_443096.1 "D110A,L148V,P176L,S144P,T19M,V117I" "0,0,0,0,0,0" 92610 13285 sw8822;dbsnp27980;hgmd0613_2268 CTHR1_HUMAN;NP_612464.1 Q44P 1 115908 12054 sw8823;dbsnp12168 ZN653_HUMAN;NP_620138.2 "A291T,A329T,A382V,E299D,E352K,G349V,G385S,G427R,K54R,P215L,R46Q,V251M,V279M,V354M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115950 4971 sw8824;dbsnp1937 RUSD4_HUMAN;NP_116184.2 "A209V,A324T,D58G,E155D,G333V,I188L,N239Y,P222L,P4L,P4S,Q44R,R151W,R235Q" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84881 9043 sw8825;dbsnp9915 ACSF2_HUMAN;NP_079425.3 "A145V,A235D,A34V,E448K,G75V,M161V,P334H,V232M,V316M,V416M,V93I" "0,0,0,0,0,0,0,0,0,0,0" 80221 4972 sw8826;dbsnp26238 GCC1_HUMAN;NP_078799.2 "A122V,A204V,A274T,C87W,E598A,N430S,N649S,Q262R,R267K,R297C,R591C,R618C,R739H,R86W,V67E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79571 3407 sw8827;dbsnp11730;dbsnp11731 CC124_HUMAN;NP_001129675.1;NP_612451.1 "A160V,E138Q,P114S,R206C" "0,0,0,0" 115098 12477 sw8828;dbsnp2222;hgmd0613_1828 FXRD1_HUMAN;NP_060017.1 "A300G,A343P,H380R,I138F,K42Q,L391V,N430S,P7L,R228Q,R252C,V145I,V231I" "0,0,0,0,0,0,1,0,0,0,0,0" 55572 6901 sw8829;spmut1421 OPTN_HUMAN "K213H,K322E,M98K,P201S,S216R,T357P" "0,0,0,0,0,0" 10133 5455 sw8830;dbsnp4948 GCP3_HUMAN;NP_006313.1 "D478G,G241C,M243V,T208S,T271S" "0,0,0,0,0" 10426 2576 sw8831;dbsnp7667 S7A6O_HUMAN;NP_115554.2 "D194N,E257D,G45D,N127S,R5G,S116A,V217M,V24M,Y220C" "0,0,0,0,0,0,0,0,0" 84138 10669 sw8832;dbsnp28841 NTNG2_HUMAN;NP_115925.2 "R183G,R45H,T346A" "0,0,0" 84628 6003 sw8833;dbsnp20633;dbsnp20634 ZN501_HUMAN;NP_001245209.1;NP_659481.2 "I147V,M17V,R60C" "0,0,0" 115560 1987 sw8834;dbsnp22233 DDT4L_HUMAN;NP_660287.1 "S161F,T133A,V110M" "0,0,0" 115265 13122 sw8835;dbsnp30010;dbsnp30011;dbsnp30012;dbsnp30013;dbsnp30014 GASP2_HUMAN;NP_612446.1;NP_001004051.1;NP_001171803.1;NP_001171804.1;NP_001171805.1 "A128G,E21D,G47A,K753E,M720I,P546S,P807L,Q823K,R109H,R173S,S289G,T707S" "0,0,0,0,0,0,0,0,0,0,0,0" 114928 2978 sw8836;dbsnp12085 RCN3_HUMAN;NP_065701.2 "A232D,H193Q,H56R,L271V,N283K,R132H,R170Q,R250G,R250W,T244M,V155M,V204M" "0,0,0,0,0,0,0,0,0,0,0,0" 57333 10108 sw8837;dbsnp3853 CRCM1_HUMAN;NP_116179.2 "N223S,R91W,S218G" "0,1,0" 84876 10837 sw8838 HAVR1_HUMAN S51L 0 26762 9332 sw8839;spmut1368;dbsnp20917 NMD3_HUMAN;NP_057022.2 "A451T,D326V,E6K,K412N,M268V,R146G,S11R,S490P,V96L" "0,0,0,0,0,0,0,0,0" 51068 6604 sw883;dbsnp23683 HCN1_HUMAN;NP_066550.2 "A670V,A724T,M376I,P42S,T394P" "0,0,0,0,0" 348980 1410 sw8840;dbsnp11628 ADCK4_HUMAN;NP_079152.3 "A291V,F167L,G231R,G7D,H174R,H174Y,M115T,R63G,R63W,R78C,T318M,T352R,T462M,V236M,Y455C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79934 4612 sw8841 RN183_HUMAN "R114Q,T82A" "0,0" 138065 13135 sw8842;dbsnp8075 ZG16B_HUMAN;NP_660295.2 "D71N,G48C,M133V,T50S" "0,0,0,0" 124220 12787 sw8843;dbsnp27729 RMD1_HUMAN;NP_057117.2 "A2S,E294Q,I169V,K52N,Q130K" "0,0,0,0,0" 51115 10556 sw8844;dbsnp10785;dbsnp10786;dbsnp10787 FXYD5_HUMAN;NP_659003.1;NP_001158077.1;NP_054883.3 "D26V,R176H,R45Q,S32L,S35A,T81M,T91I,V117I" "0,0,0,0,0,0,0,0" 53827 13397 sw8845;dbsnp23708 TMCO6_HUMAN;NP_060972.3 "F103L,L158I,L87V,Q68E,T299S,V439I" "0,0,0,0,0,0" 55374 6790 sw8846 ECHD3_HUMAN "A151T,A69T,D162N" "0,0,0" 79746 10796 sw8847;dbsnp14960;dbsnp14961;dbsnp14962 LRC39_HUMAN;NP_001243315.1;NP_653221.1;NP_001243316.1 "I121L,I165T,N209H,R231Q,R41Q,T326N,W72R" "0,0,0,0,0,0,0" 127495 9934 sw8848;dbsnp13675 SHSA4_HUMAN;NP_937792.2 "E72K,G55A,I159M,P162S,P177L,P184S" "0,0,0,0,0,0" 149345 13032 sw8849;dbsnp17368 DGC14_HUMAN;NP_073210.1 "A31V,A423V,E234K,K61E,K93E,P99L,R412W,S473W,S7A,V336M" "0,0,0,0,0,0,0,0,0,0" 8220 7080 sw884;dbsnp17626 GALR3_HUMAN;NP_003605.1 "A364V,C70S,C70Y,D3A,P53A,Q349R,R342G,S14R" "0,0,0,0,0,0,0,0" 8484 8859 sw8850;spmut388;dbsnp23792 CMBL_HUMAN;NP_620164.1 "A150T,I128T,I238T,P87A,R101G,V129M,Y155C" "0,0,0,0,0,0,0" 134147 12009 sw8851;dbsnp1709 NXPE2_HUMAN;NP_872301.2 "D247Y,H260N,I276T,I446V,I495T,N118S,N351I,S290Y,T12S,T217I,T229I,T271A,T532M,V103A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 120406 5703 sw8852;spmut631;dbsnp4383 ERP27_HUMAN;NP_689534.1 "A36T,E122K,F52L,I167M,K267N,V159I,V271L" "0,0,0,0,0,0,0" 121506 11413 sw8853;dbsnp2840 VWCE_HUMAN;NP_689931.2 "A58S,A827T,G586R,G917R,M392V,P438S,P643L,P842R,R396G,R768W,R919H,R949Q,S200T,S477Y,S792L,T788K" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 220001 2308 sw8854;dbsnp27897 WDR67_HUMAN;NP_663622.2 "A1065T,A458T,A811T,A985S,D70E,E442G,E977Q,G12C,G73E,H317Y,I539V,N885H,Q512H,Q63E,Q718K,R227Q,R262H,R414H,R777K,R779C,R94H,S36C,S436C,T1021I,T182I,T616M,V709F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93594 1835 sw8855;dbsnp6653;hgmd0613_2287 FMT_HUMAN;NP_640335.2 "A201T,C387R,I283V,K300E,K377Q,L306F,R266C,V5A" "0,0,0,0,0,0,0,0" 123263 8820 sw8856;dbsnp16156 BPIA2_HUMAN;NP_542141.1 "A175T,D237N,G43R,I181L,K113E,M1I,Q66R,R221C,V236I,V236L" "0,0,0,0,0,0,0,0,0,0" 140683 11931 sw8857;spmut127;dbsnp20920;dbsnp20921 ARHGQ_HUMAN;NP_001238891.1;NP_056410.3 "F203S,F9I,L60F,L60P,L791P,N687K,V29L" "0,0,0,0,0,0,0" 26084 2764 sw8858;dbsnp1965 M4A6E_HUMAN;NP_640342.1 "I6V,T10A,V47F" "0,0,0" 245802 11846 sw8859 DYH11_HUMAN "A3474T,D1640G,E34L,E34V,I2682V,L3715V,M1316V,M4172V,Q639R,R3004Q,S2641N,S3765P,S654C,T1038A,T4177I,V1023A,Y2593H" "0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0" 8701 52 sw885;sws100;spmut450;dbsnp18147 CYTIP_HUMAN;NP_004279.3 "C264R,D37N,E214G,L203I,M255I,N133H,P230S,Q83E" "0,0,0,0,0,0,0,0" 9595 9443 sw8860;dbsnp27801 ZBT10_HUMAN;NP_001099009.1 "A638E,E227G,E835Q,M174I,P50T" "0,0,0,0,0" 65986 2765 sw8861;dbsnp30034 PABP5_HUMAN;NP_543022.1 "I108T,K12R,N314S" "0,0,0" 140886 4486 sw8862;dbsnp8555 RM38_HUMAN;NP_115867.2 "A201V,A260P,D371H,E118Q,F273L,P241L,R114Q,R136Q,R261Q,R99W" "0,0,0,0,0,0,0,0,0,0" 64978 8976 sw8864;dbsnp20058 RTP4_HUMAN;NP_071430.2 "A204D,A65T,C169Y,D109H,G41V,H180Y,Q44K,S168N,T131M,T79I,W8G" "0,0,0,0,0,0,0,0,0,0,0" 64108 11993 sw8866;spmut626;dbsnp18511 ERLEC_HUMAN;NP_056516.2 "D332E,E169A,E384K,H246D,I313V,N393H,P442S,T394I,V318L" "0,0,0,0,0,0,0,0,0" 27248 6948 sw8867;dbsnp12143;dbsnp12144 CLIP3_HUMAN;NP_001186499.1;NP_056341.1 "D175V,K456T,K499R,S157I" "0,0,0,0" 25999 5885 sw8868;dbsnp20689 T4S19_HUMAN;NP_612470.2 "A30P,N197S,Q8P,V162I,V68L" "0,0,0,0,0" 116211 12088 sw8869;dbsnp28700;hgmd0613_2276 RRFM_HUMAN;NP_620132.1 "A21S,I159L,K256R,L19F,L78F,M216V,M45V,R212H" "0,0,0,0,0,0,0,0" 92399 11649 sw887 FMO6_HUMAN "V127I,V257I" "0,0" - 5716 sw8870;dbsnp24372 NGBR_HUMAN;NP_612468.1 "A227G,D179E,K214E,K216R,N175Y,P169R,Q283H,T219K" "0,0,0,0,0,0,0,0" 116150 11022 sw8871;dbsnp27761 MTER1_HUMAN;NP_057026.3 "E396G,H213D,I8M,K211Q,L20F,L283I,M122V,N51S,P118Q,Q157E,R147G,R29H,R32G" "0,0,0,0,0,0,0,0,0,0,0,0,0" 51001 8240 sw8873;sws991;spmut1418;dbsnp14765 OMA1_HUMAN;NP_660286.1 "D365Y,D450V,E238D,E272G,F211C,H69Y,I294V,I329L,L122W,M252T,M501T,N284S,N67K,P117L,T496M,T522M,V55I" "0,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,0" 115209 6225 sw8874 KLRG1_HUMAN W58R 0 10219 13078 sw8875;dbsnp23431 SPDLY_HUMAN;NP_060255.3 "A225V,A463T,D206N,D357N,E351V,G475R,I5V,L586S,N519Y,N8D,P481L,Q25R,R154L,R203L,R207W,R20Q,R338K,R393Q,R402W,R453S,S349T,S352P,Y508H,Y55C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54908 5078 sw8876;dbsnp2022 ELP4_HUMAN;NP_061913.3 "I300L,L113S,P191Q,R407L,S394T" "0,0,0,0,0" 26610 8062 sw8877;spmut1944;dbsnp871;hgmd0613_1617 SIR1_HUMAN;NP_036370.2 "A712T,C671S,D3E,E536K,H170R,I731V,M595T,Q357H,R341H,V484D" "0,0,0,0,0,0,0,0,0,0" 23411 3639 sw8878;dbsnp30709 YIPF6_HUMAN;NP_776195.2 "D108H,F202L,R47Q" "0,0,0" 286451 12199 sw8879;dbsnp11023 HOOK2_HUMAN;NP_037444.2 "A678T,A683V,E260G,E657K,G10R,H488Q,R344S,R594Q,V445L,V445M" "0,0,0,0,0,0,0,0,0,0" 29911 3883 sw8881;spmut147;dbsnp8848 ARSG_HUMAN;NP_055775.2 "A11V,D496N,I493T,L279V,M276T,P177S,P213S,R264Q,R326G,R384W,R385H,R398W,R521H,T236S,T444M,V256M,W274R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22901 6211 sw8882;dbsnp11707 ZN837_HUMAN;NP_612475.1 "A242T,A358V,D17V,P250L,P258L,Q153R,S65Y,Y347C" "0,0,0,0,0,0,0,0" 116412 6112 sw8883;dbsnp17591 PF21B_HUMAN;NP_612424.1 "A140T,A357T,F98L,G127C,G127R,G127S,I228V,R471C,R90Q,S56N,T102A,T115I,T214S,T520I,V238G,V283I,V50L,V524I,V84I,Y328C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 112885 6113 sw8884;dbsnp318 KBP_HUMAN;NP_056449.1 "A490T,C265Y,E23G,E301K,E84D,G66S,H245Y,M173T,R186H,T184A" "0,0,0,0,0,0,0,0,0,0" 26128 4895 sw8885;dbsnp25010 F120B_HUMAN;NP_115824.1 "A421P,A859T,C511G,D370Y,D406G,D430G,D442G,G454D,L645V,M355T,M379T,P373S,P433A,R488W,R833W,R854C,S361P,S405T,S431P,S455P,S469P,T331M,T357S,T391I,T796M,Y428C,Y440C,Y452C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84498 2561 sw8886;dbsnp13877 KTI12_HUMAN;NP_612426.1 "A61S,D191E,G112D,G234D,H198R,H73N,I114N,L282V,P113A,P126A,P206T,P238R,S200A,T189S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 112970 9559 sw8887;dbsnp25975 RT24_HUMAN;NP_114403.1 "L153F,R113W,W97R" "0,0,0" 64951 13591 sw8888;dbsnp18194 RM53_HUMAN;NP_444278.1 "A4S,K25E,T32N,T36A" "0,0,0,0" 116540 14515 sw8891;dbsnp5671 RNF31_HUMAN;NP_060469.4 "E139K,E5K,Q622L,V1061I" "0,0,0,0" 55072 1814 sw8892;spmut350;dbsnp3772 CHFR_HUMAN;NP_001154816.1 "A240V,A497V,C350S,E286K,F536S,G270R,P166L,P215S,Q93R,R202P,R289K,R348W,R504C,S244L,T595M,V465I,V580M" "0,0,0,0,1,0,1,0,0,1,0,0,0,0,0,0,0" 55743 4437 sw8893;dbsnp2099 SAAL1_HUMAN;NP_612430.2 "F124C,F189S,G38S,G42E,I315V,L219F,P95L,Q317H,R176K,R453C,S41R,S426G,V20E" "0,0,0,0,0,0,0,0,0,0,0,0,0" 113174 7130 sw8894;dbsnp20731;dbsnp20732 CCD51_HUMAN;NP_078937.3;NP_001243893.1 "F360S,M266V,Q323R,R165C,T81S" "0,0,0,0,0" 79714 8358 sw8895;dbsnp27568 MFSD3_HUMAN;NP_612440.1 "D305V,D312E,D405N,G292R,G332R,L252V,L349P,L361F,L367V,M311T,M343I,R290C,R345C,V245I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 113655 8341 sw8896;dbsnp9480 F18B2_HUMAN;NP_660344.2 "A175T,C189W,D12A,L271Q,S135P,S256R,T150R" "0,0,0,0,0,0,0" 201158 11348 sw8897;dbsnp24944 RRP36_HUMAN;NP_149103.1 "A78G,E163D,Q77R,R102Q,R252G,T64M" "0,0,0,0,0,0" 88745 11720 sw8898;dbsnp30169;dbsnp30170 C1GLC_HUMAN;NP_689905.1;NP_001011551.1 "A143V,D131E,E152K,S101N" "0,0,1,0" 29071 10440 sw8899;dbsnp26366 RBM33_HUMAN;NP_444271.2 "A836V,A936T,H969R,M695T,P612Q,P631L,P742S,S473R,T574A,V759L" "0,0,0,0,0,0,0,0,0,0" 155435 1505 sw889;dbsnp17680 TOM1_HUMAN;NP_005479.1 "A378V,A408T,A432V,K48R,M264V,R456Q,R84H,V268I" "0,0,0,0,0,0,0,0" 10043 6536 sw88;dbsnp7598;dbsnp7599 CL18A_HUMAN;NP_001129686.1;NP_872425.2 "A137T,A24T,A24V,D421N,E122K,G99S,L100P,L113Q,L2P,T148S,T151M,V118A" "0,0,0,0,0,0,0,0,0,0,0,0" 348174 7491 sw8900;spmut546;dbsnp25264 DTBP1_HUMAN;NP_115498.2 "G214D,I246M,P272S,P296S,R221Q,R292G,R54S" "0,0,0,0,0,0,0" 84062 9628 sw8901;dbsnp19941 HBAP1_HUMAN;NP_078886.2 "A449D,D380G,H24R,I409V,L243V,Q108R,R229H,S64A" "0,0,0,0,0,0,0,0" 79663 6872 sw8902;spmut520;dbsnp7444 DNJA3_HUMAN;NP_005138.3 "A156V,A455T,C55R,H74Q,H74R,N75Y,P378A,R303Q,R340Q,T375M" "0,0,0,0,0,0,0,0,0,0" 9093 7007 sw8903;dbsnp21856 TMA16_HUMAN;NP_060822.2 "I176T,Q65P,R12Q,S97N" "0,0,0,0" 55319 12900 sw8904;spmut653;dbsnp12134 F125A_HUMAN;NP_612410.1 "A187V,C106Y,D249N,G191V,P153R,R164Q,V259M" "0,0,0,0,0,0,0" 93343 11414 sw8905;dbsnp18468 PTCD3_HUMAN;NP_060422.4 "A156T,A2V,D223G,D384G,D395N,D395V,D682N,F447L,G11C,I363T,L43P,P138L,P640A,R164G,R24Q,S681G,V70I,Y457C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55037 4176 sw8907;dbsnp2194 MYEOV_HUMAN;NP_620123.2 "A89V,C145Y,G270V,G271R,M219L,M219V,P284T,P296L,R187W,R198Q,R204C,R241L,R77W,R79H,S224L,V159A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26579 10581 sw8908;dbsnp1562 CK024_HUMAN;NP_071733.1 "A116V,A150T,A242V,G97D,G97V,P226L,P248R,P277L,P344L,R176W,R334W,T311I,T323M,T361I,T393N,T64I,V396M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 53838 7610 sw8910;dbsnp8576 SAT2_HUMAN;NP_597998.1 "A9T,E23K,R126C,R22L" "0,0,0,0" 112483 13539 sw8911;dbsnp13935;hgmd0613_2309 ALG14_HUMAN;NP_659425.1 "A11T,E204A,N61S,S38I,V14M,V16G" "0,0,0,0,0,0" 199857 12610 sw8912;dbsnp886 ZN503_HUMAN;NP_116161.2 "G143S,N509K,P499S,S557T" "0,0,0,0" 84858 4626 sw8913;dbsnp17406 I17RA_HUMAN;NP_055154.3 "A367V,A680S,D363N,D583H,E226Q,E607K,G349A,H471R,P562Q,Q155H,R143C,R218H,R580H,R625H,S726A,T498I,T51M,V301I,V392L,V93M,W320R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23765 2793 sw8914;dbsnp13857;hgmd0613_2189 DISP1_HUMAN;NP_116279.2 "A1247S,A1247T,E103D,E103K,E1323K,G1070D,G1311S,G902E,I1329V,K247E,L1239P,M1096T,N1281I,Q928R,R1078H,R1132Q,R756Q,S1152G,S1163G,T1209A,T1330M,T441M,T92S,V1079M,V1261M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84976 797 sw8915;dbsnp14136 RRNAD_HUMAN;NP_057081.3 "P462S,V400L" "0,0" 51093 7109 sw8916;dbsnp399 PHIPL_HUMAN;NP_115815.2 "E19A,R5H,V342L" "0,0,0" 84457 9074 sw8917;spmut484;dbsnp3425;dbsnp3426 DDX11_HUMAN;NP_001244073.1;NP_689651.1 "A380T,A381V,A453S,A572V,A607P,C864R,C951R,D480G,E122D,F451L,F483Y,G638R,H565Y,H85R,I39S,I566V,P182L,P368S,P821A,Q567E,R140Q,R213G,R284H,R32W,R522Q,R586C,R791Q,R856H,S741R,T575M,W966C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1663 2236 sw8918;dbsnp7168 LIGO1_HUMAN;NP_116197.4 "N274I,S183F,T398M" "0,0,0" 84894 4913 sw8919;dbsnp17463 P3IP1_HUMAN;NP_443112.2 "L15F,T251S,T260A" "0,0,0" 113791 11626 sw891;dbsnp15819 PRA10_HUMAN;NP_001034450.2 "A119S,C138Y,C265R,D302H,D309N,D363A,E110G,E157K,E338Q,F168C,G402R,G403R,H144R,H336N,H385R,I299T,I433V,K352E,K357E,K422R,K99I,L155Q,L291F,L394V,L419I,L430F,M141T,M391T,P294L,P413H,P447H,P447T,R120K,R326H,S117C,S183N,S301C,S314P,S63R,T114A,T159I,T27I,T306A,V121A,V455A,V468L,V468M,Y290C,Y421N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343071 6996 sw8921;dbsnp2642 CDCA5_HUMAN;NP_542399.1 "E123K,G179R,S156Y" "0,0,0" 113130 11866 sw8922;dbsnp18125;dbsnp18127;dbsnp18128 ELMD3_HUMAN;NP_001128495.1;NP_001128493.1;NP_001128494.1 "A133T,A289T,D188N,I85S,R150G,R150W,R303Q,R325L,R66C,S105G,T70I" "0,0,0,0,0,0,0,0,0,0,0" 84173 8787 sw8923;spmut1339;dbsnp6737 NEIL1_HUMAN;NP_078884.2 "C136R,D252N,E181K,E41Q,G245R,G83D,I182M,K242R,P190L,P190R,P321A,R159Q,R323G,R339Q,S82C,T278I,T335S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79661 7090 sw8924;spmut2049;dbsnp633 STALP_HUMAN;NP_065850.1 "A210T,A318V,D427Y,E204K,S196N,S256G" "0,0,0,0,0,0" 57559 7841 sw8925;spmut1864;dbsnp9710 S47A1_HUMAN;NP_060712.2 "A465V,C497F,E330V,G288S,G424R,L125F,R319Q,R482W,R545Q,T159M,V122I,V279D,V338I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55244 5548 sw8926;dbsnp18516 GLT14_HUMAN;NP_078848.2 "A187T,A242D,A463T,A47T,A486T,D157N,D158N,P409A,Q469K,R396H,R68C,R68S,R82Q,T140M,V326I,V69I,V9L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79623 5744 sw8927;dbsnp6304 DTD2_HUMAN;NP_542395.1 "M104R,R6W" "0,0" 112487 13575 sw8929;dbsnp2066;dbsnp2067 SIPA1_HUMAN;NP_694985.29;NP_006738.3 "A106S,A920V,C307Y,D814G,E174D,G921V,H809Y,L992Q,P876T,R1007Q,R1014Q,R1015L,R1015Q,R372Q,R80Q,S182F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6494 1929 sw892;dbsnp13917 PRAM4_HUMAN;NP_001009611.1 "C168Y,C216R,C393S,C76R,C76Y,D22E,D85E,E138Q,F300V,F380I,G145E,G423S,H124R,I436N,K217N,L19V,L33Q,L414V,L454F,M1V,M43L,M43T,N205S,N383H,N442K,R195H,R270C,R270H,R419Q,S281P,V110I,V117F,V204A,V412L,W6R,Y249S,Y276S,Y459C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 400735 5743 sw8930;spmut158;dbsnp18783 ASIC4_HUMAN;NP_878267.2 "A231T,A37V,A425T,A535T,E149G,G471R,G472A,G622R,I391V,I46T,P162A,P614Q,P637T,R193H,R587C,R616L,V160A,V619A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55515 4617 sw8932;dbsnp9290 SCRN2_HUMAN;NP_612364.2 "A2V,E123K,E186K,E273Q,G54R,K103R,M323V,Q330R,R284C,R343Q,R347Q,R375Q,R77C,S411G,T102M,T298R,V106A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 90507 7885 sw8934 TRM61_HUMAN V66A 0 115708 11124 sw8935;dbsnp24394 PERP_HUMAN;NP_071404.2 "A24S,C91S,G42V,G59R,P143R,P174L,T134I,Y147D" "0,0,0,0,0,0,0,0" 64065 13123 sw8936;spmut358;dbsnp10178 CHMP6_HUMAN;NP_078867.2 "A190D,A195S,G55S,M87T" "0,0,0,0" 79643 12943 sw8937;dbsnp22196 PGM2_HUMAN;NP_060760.2 "A34T,A368T,E488D,F434L,F600S,G10D,I185V,K604E,N345S,P202L,R366C,R558H,R72H,T489A,V102M,Y569C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55276 4878 sw8938;dbsnp7392 FA86A_HUMAN;NP_958802.1 "A141T,A142V,A146S,A146V,A168V,A231T,A231V,A95V,D188E,E124K,E151K,E288Q,E319D,G169R,H272D,H81Q,L47V,M257K,N204S,P64Q,R180H,R182Q,R264W,R270W,R285H,S123C,T121A,T160A,T160S,T289M,T329I,V230I,V233I,V280M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 196483 10140 sw8939;dbsnp12963;dbsnp12964 CERS2_HUMAN;NP_071358.1;NP_859530.1 "A66V,E115A,R105Q,R116H,V267I" "0,0,0,0,0" 29956 8928 sw893;dbsnp13296 PRAM2_HUMAN;NP_075390.1 "A128T,A349T,A349V,A368T,A393T,C235G,C302Y,C375R,C375Y,E296K,E308G,E357K,E83K,F150L,F316Y,F430L,F444V,G14V,H219R,H86R,I153L,I204M,I347V,I391M,K193T,K223R,K346R,L122V,L210R,L310M,L73F,M28I,M28V,N187S,N293I,N293K,N297H,N304Y,N426D,P456L,P458S,R140M,R334H,R33S,R399H,R41M,R424C,R424G,R94H,S183G,S24A,S328R,S386R,S45R,S68W,T141A,T141M,T233N,T301A,T53M,T72R,V355M,V67G,W98R,Y225C,Y225H,Y245S,Y329F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65122 6996 sw8940;dbsnp18180 CC104_HUMAN;NP_542398.3 "D243G,E6D,I246F,I295T,N132S,T324I" "0,0,0,0,0,0" 112942 9855 sw8941;dbsnp11492 DUS3L_HUMAN;NP_064560.2 "C54Y,D429H,D609N,K52T,R185G,R207L,R326H,R508H,V279M" "0,0,0,0,0,0,0,0,0" 56931 4589 sw8942 NUD11_HUMAN S39N 0 55190 11088 sw8943;dbsnp11567 P2Y11_HUMAN;NP_002557.2 "A87T,D340G,E186K,R276W,R307W,S124N,S166G,S349N,V149A,V272M,V5I,Y261C" "0,0,0,0,0,0,0,0,0,0,0,0" 5032 3260 sw8944;dbsnp1316;hgmd0613_2181 BSCL2_HUMAN;NP_116056.3 "A185T,A198V,A212P,G211R,L363P,N88S,P303L,R392H,S280F,S382F,S90L,V86I" "0,0,1,0,0,1,0,0,0,0,1,0" 26580 7371 sw8945;dbsnp3010 RM48_HUMAN;NP_057139.1 "E6G,G55R,G55S" "0,0,0" 51642 12696 sw8946;dbsnp11708 ZN274_HUMAN;NP_598009.1 "D314N,D413A,D97Y,E387Q,H553D,K527Q,P226S,Q150R,R168C,R485K,V147I" "0,0,0,0,0,0,0,0,0,0,0" 10782 4558 sw8947;spmut184;dbsnp8776 AURKB_HUMAN;NP_004208.2 "A157T,A294T,A52V,G212R,H100Q,I304T,M298T,P325S,R284C,R95Q,T179M,V103M,Y8F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9212 8518 sw8948;dbsnp9382 CEP95_HUMAN;NP_612372.1 "A811V,D383N,M165I,M690T,P225S,R660Q,S820F" "0,0,0,0,0,0,0" 90799 3087 sw8949;dbsnp11154 ZN799_HUMAN;NP_001074290.1 "C593R,F457C,G44V,H494R,L252P,M214T,S108R,T142M,T304I,Y237C" "0,0,0,0,0,0,0,0,0,0" 90576 4664 sw894;dbsnp13542 HNRCL_HUMAN;NP_001013653.1 "A277V,D121G,D232H,D255G,D265N,D81V,E212G,E250D,F115L,H235R,I204V,K216R,L148I,L148V,M229L,M229T,N22H,P134L,Q208H,R117W,R99G,V130I,V258D,V5I,Y105C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 343069 10730 sw8950;dbsnp6587 CALL4_HUMAN;NP_219501.2 "G103R,R28C,T154K,T36R" "0,0,0,0" 91860 13055 sw8952;dbsnp30041;dbsnp30043;dbsnp30044 TRM2_HUMAN;NP_079193.2;NP_001161442.1;NP_001161444.1 "G337R,R315L,S12R" "0,0,0" 79979 6584 sw8953;dbsnp18174 FAH2A_HUMAN;NP_057128.2 "L2V,M198T,R93W,T176I,V12A" "0,0,0,0,0" 51011 10557 sw8954;dbsnp14342 TOE1_HUMAN;NP_079353.3 "C309G,E381K,I81T,P366S,P460L,R341H,S26A,S276T,T25A,T25S,V20L,V240M,V36I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 114034 6468 sw8955;dbsnp26805 CDA7L_HUMAN;NP_061189.2 "E118K,R143Q,R187S,R59C" "0,0,0,0" 55536 7505 sw8956;sws997;dbsnp17346;hgmd0613_2358 SREC2_HUMAN;NP_699165.2 "A665T,A681P,A819G,A837G,C258Y,D378E,D523N,D777E,H522L,P174S,P661L,S554L,T425S,V778L" "0,0,0,0,1,0,0,0,0,0,0,0,0,0" 91179 2772 sw8957;sws998;dbsnp8012 CP058_HUMAN;NP_073581.2 "E403V,E464K,H424Q,R313H,R409W,T309I,V467I,Y185C" "0,0,0,0,0,0,0,0" 64755 7241 sw8958;dbsnp16108 DDX27_HUMAN;NP_060365.7 "A20V,A715V,A721T,A73V,D411Y,E203K,E504G,E504V,G206A,G206V,G766S,M105V,R194P,R194Q,R507W,R508C,S414F,T298I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55661 3241 sw8959;dbsnp6613 ACBG1_HUMAN;NP_055977.3 "A673V,D87N,E194V,E533K,E542K,E663Q,H158Y,H228L,M633V,M670K,M670T,P240L,P51L,R3H,R666W" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23205 3842 sw895;dbsnp30502;hgmd0613_1654 CCD22_HUMAN;NP_054727.1 "A430T,A48T,D546N,F301L,R234C,R270Q,R384C,R388H,S387R,S51A,T17A,T357S,V171M" "0,0,0,0,0,0,0,0,0,0,1,0,0" 28952 4826 sw8960 ZDH12_HUMAN "P69S,Q172L" "0,0" 84885 11544 sw8961;dbsnp13266 PGCB_HUMAN;NP_068767.3 "A103V,A180G,A19E,A19V,A34D,A600T,E504K,G525E,L595I,P368S,P489L,P907T,R105G,R706L,S356L,S484T,T497P,V839L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63827 2553 sw8963;dbsnp1808 MTNB_HUMAN;NP_057041.2 "C76Y,D20N,D54N,G47R,H23R,M181V,R7W" "0,0,0,0,0,0,0" 51074 12077 sw8964;dbsnp28119 ZC21A_HUMAN;NP_057094.2 "L4M,P252S,S279F,T156A,T163P" "0,0,0,0,0" 51101 10273 sw8965;dbsnp12178 LIN37_HUMAN;NP_061977.1 "A16V,M188L,P172S,R227Q" "0,0,0,0" 55957 11994 sw8966 S41A3_HUMAN T62A 0 54946 6528 sw8967;dbsnp23516 TIMD4_HUMAN;NP_612388.2 "D176N,G180R,G374S,M317I,M341T,P91L,R147C,S218P,S44Y,T170K,T179I,V172M,V240A,V365M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91937 9022 sw8968;spmut337 CENPN_HUMAN "E288K,E84D,Q223R" "0,0,0" 55839 9928 sw8969;dbsnp9061 MYO19_HUMAN;NP_001157207.1 "C678R,E700K,H650R,H956R,L475I,L863F,N176S,N6S,Q203H,S158F,V536L,W784R,Y149C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 80179 2237 sw896;dbsnp30270 PRAF2_HUMAN;NP_009144.1 "E168V,K148R,L56F,N151H" "0,0,0,0" 11230 13390 sw8970 S39AD_HUMAN E28G 0 91252 9185 sw8971;dbsnp14498 S2544_HUMAN;NP_055470.1 "R141C,R75Q,S52I" "0,0,0" 9673 10558 sw8972;dbsnp8009 ZN764_HUMAN;NP_219363.2 "A139V,A332V,C42R,D105G,E116K,G181R,G378R,L151R,L84Q,P144S,R52Q" "0,0,0,0,0,0,0,0,0,0,0" 92595 8426 sw8974 P121A_HUMAN A1215G 0 9883 1284 sw8975;dbsnp27513 TONSL_HUMAN;NP_038460.4 "A1188V,A215V,A478V,A714V,A893T,D590N,D650E,E481K,F1173C,F1174L,G1170S,G486V,G493R,G493S,K237R,L201V,P1276L,P565S,P949Q,Q287H,R186K,R238W,R270K,R373H,R544H,R620P,R620Q,R812W,R875P,S1172G,V386M,V488M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4796 1019 sw8976;dbsnp27665 NTAQ1_HUMAN;NP_060494.1 "A52G,D99N,E37D,F116I,I32V,N93S,R134C" "0,0,0,0,0,0,0" 55093 12855 sw8977;dbsnp11460 PX11C_HUMAN;NP_542393.1 "C91W,K76E,P161L,P161R,T159M" "0,0,0,0,0" 92960 12102 sw8978 PDLI5_HUMAN "A345T,S319L" "0,0" 10611 4852 sw8979 CREL1_HUMAN M13V 0 78987 8124 sw8980;dbsnp1570 ACY3_HUMAN;NP_542389.1 "D66N,E149K,F205L,P55A,R62H,R8Q,V281M,V28I" "0,0,0,0,0,0,0,0" 91703 10413 sw8981;dbsnp22085 SFRP2_HUMAN;NP_003004.1 "A45V,P31A" "0,0" 6423 10981 sw8982;spmut1894;dbsnp20810 SENP5_HUMAN;NP_689912.2 "E117K,G350D,H303Y,H380R,L119P,L340F,L453F,N153S,N83S,P324A,R552Q,V422M,V510I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 205564 3568 sw8983;dbsnp2436 CCD34_HUMAN;NP_110398.1 "A105T,C33R,D91E,D92E,E114G,E264A,G39S,H192N,I319V,I345V,N298S,P53S" "0,0,0,0,0,0,0,0,0,0,0,0" 91057 9135 sw8984;dbsnp25918 CG055_HUMAN;NP_932068.2 "K40R,S8A" "0,0" 154791 7448 sw8985;dbsnp3803 PED1B_HUMAN;NP_612380.1 "A28G,E428D,L316Q,P429A,R10Q,R404H" "0,0,0,0,0,0" 91523 7507 sw8986;dbsnp11743 DOCK6_HUMAN;NP_065863.2 "A1442T,A1632V,E1549K,G1202D,G1698W,G665R,P250L,P555L,R1041C,R1173W,R1283H,R1305C,R1526P,R254C,R323L,R666H,R826C,T182N,V1420L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57572 401 sw8987;dbsnp20022 OXND1_HUMAN;NP_612390.1 "I239T,R13Q,R13W,R59Q,R82C,S64A,T144M" "0,0,0,0,0,0,0" 92106 10616 sw8988;dbsnp25916 T176A_HUMAN;NP_060957.2 "G111D,H24R,L187F,Q25K,R109W,R141Q,S156L,T122A,T208A,V84I" "0,0,0,0,0,0,0,0,0,0" 55365 12228 sw8989;dbsnp11285 ZN419_HUMAN;NP_078967.3 "A33T,E141Q,E340K,G213D,I114S,I124V,I336V,R363H,R53H" "0,0,0,0,0,0,0,0,0" 79744 6458 sw8990;dbsnp22094 NAF1_HUMAN;NP_612395.2 Y493S 0 92345 6762 sw8991;dbsnp11387 REEP6_HUMAN;NP_612402.1 "A150D,D157N,E9D" "0,0,0" 92840 13197 sw8992;dbsnp17656 SGSM3_HUMAN;NP_056520.2 "D151N,H279Q,K146N,L384F,Q447K,Q649E,R441C,R598Q,R634Q,W20R" "0,0,0,0,0,0,0,0,0,0" 27352 3619 sw8993;spmut483;dbsnp16049 DDRGK_HUMAN;NP_076424.1 "A303T,R145W,R164L,R65W" "0,0,0,0" 65992 10559 sw8994 DHTK1_HUMAN "F20L,I607M,N350D,R308L,Y272D" "0,0,0,0,0" 55526 2504 sw8995;dbsnp18670 HES6_HUMAN;NP_061115.2 "E21D,R218Q" "0,0" 55502 12455 sw8998;dbsnp4852;dbsnp4853;dbsnp4854;hgmd0613_2190 COX14_HUMAN;NP_116290.1;NP_001244062.1;NP_001244063.1 "M19I,R41C" "1,0" 84987 14920 sw8999;dbsnp27186 WBS16_HUMAN;NP_110425.1 "R30G,R398L" "0,0" 81554 7326 sw899;spmut939;dbsnp18630 IF2P_HUMAN;NP_056988.3 "A723S,A80S,I873M,K3E,K522I,K522R,K522T,R360G,R694Q,S337G,S588C,S588G,T626N,V925L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9669 1356 sw89;dbsnp1545 VP37C_HUMAN;NP_060436.4 "G295D,H220R,L198S,P214R,R64C,R64S,S143F,S261A,T8N,T8S,V182D,V215M" "0,0,0,0,0,0,0,0,0,0,0,0" 55048 9534 sw900 ZG16_HUMAN "S32G,T162S" "0,0" 653808 13588 sw9000;dbsnp2313 SYNM_HUMAN;NP_078954.4 "F280L,K300R,N336K,N361S,N87T,P214T,R250Q,R348W,R9P,R9W,S264C,S69C" "0,0,0,0,0,0,0,0,0,0,0,0" 79731 7061 sw9001;dbsnp13748 GPTC3_HUMAN;NP_071361.2 "A342G,A517G,C46S,E39D,E400K,G312R,N234S,P186T,Q35R,R200W,R231C,R302L,R401H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 63906 6212 sw9002;dbsnp79 KAZD1_HUMAN;NP_112191.2 "A152V,C76G,G236D,G255A,N277S,R252H,R256H,R71W" "0,0,0,0,0,0,0,0" 81621 10779 sw9003;dbsnp20743 SUCB2_HUMAN;NP_003839.2 "P411T,T396A" "0,0" 8801 7778 sw9004;sws999;dbsnp13831 IGS21_HUMAN;NP_116269.3 "A234T,D191N,G365R,P35A,P35T,Q333E,R160H,R245H,R272H,R354W,T243M,T349M,T379M,V181G,V62G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84966 7263 sw9006;dbsnp19071;dbsnp19072 GMPPA_HUMAN;NP_995319.1;NP_037467.2 "A72T,H162Q,P365L,P64S,R272Q,S21F,V156A" "0,0,0,0,0,0,0" 29926 8152 sw9007;dbsnp5658 APOP1_HUMAN;NP_115750.2 "N88S,P27A,P72Q,V16A" "0,0,0,0" 84334 12833 sw9008;dbsnp109 DYDC2_HUMAN;NP_115748.1 "G143S,P123R,R25Q,V24F" "0,0,0,0" 84332 13418 sw9009;dbsnp25704 FA46A_HUMAN;NP_060103.2 "D132H,G46S,R112L,S79N,T313A" "0,0,0,0,0" 55603 7727 sw9010;dbsnp11127 ZN414_HUMAN;NP_115746.2 "G292V,L150P,P77S,Q65R,S119N,S304F" "0,0,0,0,0,0" 84330 8806 sw9012;dbsnp20739 NGLY1_HUMAN;NP_060767.2 "D280H,H536Q,I445L,I527V,Q591R,R503H,S602P,V184F,V581I" "0,0,0,0,0,0,0,0,0" 55768 4544 sw9013;dbsnp23727 CE004_HUMAN;NP_115761.2 "I115V,M146T,Q285E,R133H,R66K" "0,0,0,0,0" 10826 10072 sw9014;dbsnp10998 SHD_HUMAN;NP_064594.3 "A117T,D103N,E206A,E327K,G138S,N270K,N270S,P177A,V141M" "0,0,0,0,0,0,0,0,0" 56961 9904 sw9015;dbsnp12926 NSL1_HUMAN;NP_056286.3 "A187D,A72T,I108V,M254V,P265L,S4F" "0,0,0,0,0,0" 25936 11252 sw9016 CBPB2_HUMAN "A169T,I347T" "0,0" 1361 8084 sw9017;dbsnp4047 PAWR_HUMAN;NP_002574.2 "E202A,G137A,I193V,I199M,P42L,P78R" "0,0,0,0,0,0" 5074 9905 sw9018;dbsnp24682 ADTRP_HUMAN;NP_116133.1 "F97Y,K116R,T132S,V124M,V202I" "0,0,0,0,0" 84830 11965 sw9019;dbsnp30329 RBM41_HUMAN;NP_060771.3 "E12V,E130Q,H376Y,P304L,R131H,R343Q,V370I" "0,0,0,0,0,0,0" 55285 8317 sw901;spmut2210;dbsnp4956;dbsnp4957;dbsnp4958 TRI13_HUMAN;NP_005789.2;NP_434698.1;NP_998755.1 S355T 0 10206 8387 sw9020;dbsnp7724 MRP9_HUMAN;NP_150229.2 "A102E,A263G,A357T,D26N,E1191A,E690V,F1349L,G1157R,G1159R,G260V,G266R,G734D,I1000V,I1187T,I352S,I352T,I416V,I9L,K894M,L224P,N587Y,P34T,Q1148E,R1117C,R122C,R17W,R18W,R69Q,R94Q,S1050P,S1162L,T649M,T798I,T887M,T989S,V114M,V159I,V74I,V850A,V867I,Y1013H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94160 1050 sw9022 TPD55_HUMAN F118L 0 89882 14083 sw9023;dbsnp14604 KIRR1_HUMAN;NP_060710.3 "A78S,A78T,A80T,I503V,R158Q,R586C,R586S,S573L,S654N,T282M,V39M,Y687F" "0,0,0,0,0,0,0,0,0,0,0,0" 55243 3547 sw9024;dbsnp17134 CYYR1_HUMAN;NP_443186.1 "D2N,E121Q,M86T,P111S,P134L,R95H,T44M,V96M" "0,0,0,0,0,0,0,0" 116159 13834 sw9025;dbsnp6929 CELF6_HUMAN;NP_443072.3 "M40T,N336H,R152P" "0,0,0" 60677 6904 sw9027;dbsnp3501 PIWL1_HUMAN;NP_004755.2 "K491N,L575P,Q52P,R144K,R527K,S341T,T310A,Y32D" "0,0,0,0,0,0,0,0" 9271 2704 sw9028;dbsnp19962 LRIG1_HUMAN;NP_056356.2 "A1050T,A550T,A902V,A957T,D1001N,D217N,D361H,D971V,E329K,E96K,G233E,G376S,G553R,G926S,G926V,G993A,H286R,H606Q,L1025S,L24V,L843P,M505I,M615V,N866S,N999K,P1031R,P163L,P721L,P732L,P967S,Q1053P,R574C,R702C,R723C,S1021Y,T152R,T283M,T604M,T688S,T717A,V359I,V597A,V753M,V805I,V930I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26018 1660 sw9029;dbsnp2089 M4A14_HUMAN;NP_115986.3 "A121V,A324V,G359V,G46R,G584R,G69V,I201F,I89T,M405T,M465K,N177Y,P250S,P286S,P326Q,P610L,P617L,P676S,Q451R,Q612H,R480I,R480T,R499M,T211R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84689 4280 sw902;dbsnp29570 DIAP2_HUMAN;NP_006720.1 "A83P,A83S,A83T,D438Y,F425L,G550D,L426V,L599F,N762I,R1072C" "0,0,0,0,0,0,0,0,0,0" 1730 1435 sw9031;sws1004 COG3_HUMAN N747S 0 83548 3041 sw9032;dbsnp9549 CK5P3_HUMAN;NP_788276.1 "A196V,D271N,D282N,E173K,G172D,G273E,I409T,L258I,L324V,Q456R,V21G" "0,0,0,0,0,0,0,0,0,0,0" 80279 6547 sw9033;dbsnp249 LOXL4_HUMAN;NP_115587.6 "A259T,A657T,C122G,D405A,E77K,G113R,I588T,K182T,P372T,Q248H,Q465E,R101H,R136S,R154Q,R188W,R293C,R323Q,R365Q,R379C,R385W,R422H,R445C,R445S,T484K,T484M,T81I,Y576S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84171 3416 sw9034 MPP4_HUMAN "G44S,V562I" "0,0" 58538 4722 sw9035;dbsnp801 AKCL2_HUMAN;NP_001035267.1 "C52G,D35H,D35N,E21K,E319G,F172L,G49V,I307V,K86R,L186W,P110R,P184S,Q203E,S248Y,T68N,T73P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83592 9824 sw9036;dbsnp13051 SC16B_HUMAN;NP_149118.2 "A929S,D335E,F738S,G523E,G730R,H292R,H41D,I385V,N1031S,P433L,P864A,Q845H,R227C,R325T,R34Q,R863T,S782F,S840T,S873N,T492M,V839E,V83L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89866 1852 sw9037;dbsnp2739 MAP6_HUMAN;NP_149052.1 "A389T,D423G,E584K,E584Q,I247M,M543I,M543V,M587I,M598I,M642T,P647L,R740H,S532L,S589P,S591P,S600P,S663F,V693G,V798A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4135 3123 sw9038;dbsnp18722;dbsnp18723 SIAT2_HUMAN;NP_115917.1;NP_001135823.1 "A91V,D190E,D191E,F30Y,G154R,H184Q,I341V,I414V,K109E,L511V,L52P,N337H,R172Q,R179K,S122T,T230I,T392S,Y29F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84620 6152 sw9039;dbsnp9189 ZN594_HUMAN;NP_115919.1 "C682F,I171T,L339F,L639F,Q166H,Q559H,R452C,V199G" "0,0,0,0,0,0,0,0" 84622 3162 sw9040;dbsnp7414;hgmd0613_682 ZN469_HUMAN;NP_001120936.1 "A1041T,A1223V,A2362P,A2710T,A290V,A331V,A3542T,A491T,D2749V,D2902Y,E3026A,E3367D,E3630Q,E935K,G1914R,G1983D,G2000S,G2358R,G2633S,G3350R,G3415V,G47S,G497R,H2298Q,H2848R,H3774Q,H3892L,K1162E,L1427V,L1475V,L2670Q,L3616F,M2640V,M2974L,P1130S,P1189L,P1283S,P1372T,P1420L,P1668L,P1741L,P1777H,P3299L,P3463R,P858T,R1042Q,R2129K,R2239Q,R2853H,R3014H,R3317H,R366S,R3828H,R707C,R766Q,S1264T,S3468R,S357P,S539C,T1499M,T3636A,T3896M,V1464M,V318M,V3591L,V3591M,V3675M,Y1441C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84627 81 sw9041;dbsnp26254 RADIL_HUMAN;NP_060529.4 "D239N,H412D,L938P,P284S,P946L,R242Q,R270Q,R682Q,S886G,T968A,V838M,Y565C" "0,0,0,0,0,0,0,0,0,0,0,0" 55698 1800 sw9043;dbsnp16646;dbsnp16647 ELMO2_HUMAN;NP_573403.1;NP_877496.1 "E695D,L224F,P183S,Q422P,R86C,V217L,V217M" "0,0,0,0,0,0,0" 63916 3425 sw9044;dbsnp10628 TMX3_HUMAN;NP_061895.3 "I168V,I423T,N293S,P61S,V309I,V333I,W7R,Y277F" "0,0,0,0,0,0,0,0" 54495 7506 sw9045;dbsnp5813 HIPL1_HUMAN;NP_001120730.1 "K603E,R194H,V692A" "0,0,0" 84439 3339 sw9046;dbsnp11612 ZN333_HUMAN;NP_115809.1 "A146T,A197T,A251E,A537V,A581E,D230N,E120A,G484W,R128W,R24G,R360H,R410W,S137F,T141M,T645I,V11M,V4I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84449 4424 sw9047;dbsnp28810 ZN462_HUMAN;NP_067047.4 "A2181T,D1752N,E1421K,E1833K,E256D,G355D,H2452L,K2052R,L359W,M382V,M404V,N1397H,N1828S,N1995S,N785S,N880S,P1187S,P1355L,P1438L,P2464S,P549L,S522N,S522T,T1026A,T1260M,T193A,T2133I,T2133N,V317I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 58499 241 sw9048;dbsnp5060;dbsnp5061;dbsnp5062 CHAP1_HUMAN;NP_001157617.1;NP_115812.1;NP_001157616.1 "A220P,A252V,A586S,K226R,K591R,L568V,M671I,P309L,P491L,P604R,R13H,R272W,R555Q,V296A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 283489 3130 sw9049;dbsnp3890 LRIQ1_HUMAN;NP_001073379.1 "A1135T,A912T,C83Y,D533H,E1032A,E363K,E619K,G1141D,G1186E,G558R,G808A,G829V,I1074M,I1422M,I29N,I555V,K248Q,K705I,M1337V,N627I,N718K,Q178E,Q373P,R1151H,R1578C,S835G,T1209P,V1009I,V135I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84125 614 sw9050;dbsnp25000 LMBL3_HUMAN;NP_115814.1 "G116R,K468R,P561L,P612L,R107K,T183N,T644P,T746A" "0,0,0,0,0,0,0,0" 84456 3362 sw9051 CC136_HUMAN Q1049E 0 64753 1541 sw9052;dbsnp9173 NEUL4_HUMAN;NP_115818.2 "A736G,A893V,C1230S,E1091V,G1120R,L1227F,M1418V,P214H,P862A,Q1019H,R1372Q,R1382H,R1406H,R935S,V193M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84461 767 sw9053;dbsnp1309 ZFP91_HUMAN;NP_444251.1 "P92S,R153C,R169Q,S207G,V37I" "0,0,0,0,0" 80829 5549 sw9054;dbsnp583;hgmd0613_2201 CDHR1_HUMAN;NP_149091.1 "A212T,A243V,A40T,A617T,E146K,E598K,F181S,F452L,H186Y,H53Q,H625D,I341V,N623S,P532A,P812S,R15L,R162S,R313K,R378Q,R636C,R636H,R636L,V183M,V492L,V54I,V619L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92211 2838 sw9055;sws1006;dbsnp2005 PCD16_HUMAN;NP_003728.1 "A1631G,A2867T,A486V,A516T,A559S,A619T,E2806V,G992E,H2729L,I780V,K1152R,L1835F,L2172Q,L919F,P1562L,P1856H,P1961L,P197L,P199R,P234R,P2616A,P2707S,P3266L,R1062G,R1229H,R1971H,R1991H,R1991S,R2024C,R2045C,R2078H,R2078L,R2091T,R2141Q,R2359C,R235Q,R2403W,R2455Q,R2462Q,R2755H,R2827P,R2871W,R2962Q,R318W,R387H,R474C,R498Q,R850C,R985W,R999Q,S2379I,S415R,S560F,S667C,T1088I,T1255M,T1949M,T1980S,T2160I,T2483I,V127I,V2156E,V2331I,V2398F,V2920M,W1053S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8642 115 sw9056;dbsnp5854 CLMN_HUMAN;NP_079010.2 "A223G,A98T,A98V,D536N,E245D,E276K,E357K,E705D,E771A,G213S,I900F,M833I,P124A,P158A,P346Q,P401T,P963L,R334H,S87L,V489F,Y928C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79789 2099 sw9057;dbsnp2140 M4A4A_HUMAN;NP_683876.1 "K52E,L191I,M178V,P63T,Q28R,T213I" "0,0,0,0,0,0" 51338 12144 sw9058;dbsnp24642;dbsnp24643 PGBD1_HUMAN;NP_115896.1;NP_001171672.1 "A797V,C298Y,D346N,D595E,E277K,F208L,G244E,G244R,G35S,G7D,H193R,H665R,H806D,I564V,I678V,K396N,M592I,N12S,N398S,P256L,Q248E,Q91R,R239Q,S747L,T223I,T25A,V187L,V227I,Y2C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84547 3149 sw9059;dbsnp25349;hgmd0613_2188 SRAC1_HUMAN;NP_116250.3 "C7W,E416K,F47I,I30T,I420T,L554V,M466L,P21L,R306Q,R31G,R645C,S543T,S563C,T147M,V8I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84947 4545 sw905;dbsnp14048 ETBR2_HUMAN;NP_004758.3 "A410T,G441R,G90D,G90R,K91R,P81A,R2Q,R336Q,V361M,V414L" "0,0,0,0,0,0,0,0,0,0" 9283 6979 sw9060;dbsnp14500 MAEL_HUMAN;NP_116247.1 "D42E,N206I,N206S,N360S,N402S,P212H,P324L,R133H,S41A,V388A" "0,0,0,0,0,0,0,0,0,0" 84944 7880 sw9061;dbsnp4490 FACR2_HUMAN;NP_060569.3 "A48S,F326S,G10S,I329T,K176N,R459C,R480C,V115G" "0,0,0,0,0,0,0,0" 55711 6393 sw9062;dbsnp28267;dbsnp28268;hgmd0613_714 RN170_HUMAN;NP_001153695.1;NP_112216.3 "A38V,M188V,R199C,S125N" "0,0,1,0" 81790 11747 sw9063;dbsnp6417 ZFY19_HUMAN;NP_001070736.1 "E379Q,L72V,P11L,P190L,P244L,R210H,R325Q,R398C,S376A,S381N" "0,0,0,0,0,0,0,0,0,0" 84936 7183 sw9064;dbsnp4388 RITA_HUMAN;NP_116237.1 "H219D,H219Y,M185L,M185V,P90S,R192C,R196Q,R86K,S113W,T143R,T210P,T220K,V5M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84934 11507 sw9065;sws1007 ZN668_HUMAN "A447V,G304E,V25L" "0,0,0" 79759 4676 sw9066;dbsnp12161 ZBT45_HUMAN;NP_116181.1 "A177T,A263T,A3T,D293E,G326R,R17H,R274Q,R394H" "0,0,0,0,0,0,0,0" 84878 6452 sw9068;dbsnp20193 GP128_HUMAN;NP_116176.2 "A731T,D358N,F705L,G397S,G403D,H770R,I235V,I584V,I64V,K151E,K425R,L212I,L331V,L378I,Q373R,R409H,R409P,R411C,R756H,S660N,T314M,T352A,T542P,T645S,T66I,T768N,V700F,Y126C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84873 3233 sw9069;sws1008;dbsnp23759 CLP1L_HUMAN;NP_110409.2 "E380K,R230C,S37P,T537M,V207L,V207M,V222M,V275M" "0,0,0,0,0,0,0,0" 81037 6015 sw906;dbsnp11066 BRD4_HUMAN;NP_490597.1 "A371G,D542N,E1270D,P37S,P731H,P731L,R1097H,R669H,S563N,T598S" "0,0,0,0,0,0,0,0,0,0" 23476 1044 sw9070;spmut2190;dbsnp27656 TOPK_HUMAN;NP_060962.2 "E220D,E2K,K87M,L113F,M241L,N107S,S23L" "0,0,0,0,0,0,0" 55872 10347 sw9071;dbsnp21844 CABS1_HUMAN;NP_149113.3 "K263N,K76Q,Q93R,T15A,T211I,W298G" "0,0,0,0,0,0" 85438 8689 sw9072;dbsnp26446 F71F1_HUMAN;NP_115988.1 "E242K,R275T,R301C,R61Q,R61W,S228L,V93I,W132R" "0,0,0,0,0,0,0,0" 84691 9812 sw9073;dbsnp9678 PRAC_HUMAN;NP_115767.1 "A4V,D40N" "0,0" 84366 14921 sw9074;dbsnp23440;dbsnp23441;hgmd0613_2166 MEG10_HUMAN;NP_115822.1;NP_001243474.1 "C326R,C774R,G329R,G522R,G885E,I863V,M87V,N242S,N508S,P692T,P897L,Q1096H,R1072K,R1072S,R151Q,R349H,R541L,R576C,R71W,T149P,T293A,T715K,V206I" "1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0" 84466 1587 sw9075;sws1009;dbsnp2802 NTKL_HUMAN;NP_065731.3 "D645N,D682N,P479L,Q663H,T627M,V125M,W755S" "0,0,0,0,0,0,0" 57410 3156 sw9076 MSLNL_HUMAN "A139T,D463V,S597G" "0,0,0" 401827 4060 sw9078;dbsnp16085 KCNS1_HUMAN;NP_002242.2 "E494K,G507R,I489V,Q508R,Q524P,R193S,R466C,R475C" "0,0,0,0,0,0,0,0" 3787 6193 sw9079;dbsnp24679 O10C1_HUMAN;NP_039229.3 "A3E,D270Y,F161L,F250L,F60L,G151R,I245M,L255I,L85P,M100V,M246L,M246V,M310R,M310V,P160S,P174Q,P261A,P286R,P309T,P57S,R121C,R138W,R226L,R233S,R260L,R88Q,R89S,S74A,T202I,T307M,Y34C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 442194 10475 sw907;dbsnp30132 OPHN1_HUMAN;NP_002538.1 "A45T,E276D,L465F,L673F,L677M,M693I,P686S,R594C,T301M,T600M,V39I" "0,0,0,0,0,0,0,0,0,0,0" 4983 2748 sw9080;dbsnp16101 Z512B_HUMAN;NP_065764.1 "A408T,A453T,A778S,G53S,K834N,M372V,R178G,R470W,R785C,R877W,V270I,V288M" "0,0,0,0,0,0,0,0,0,0,0,0" 57473 2653 sw9081;spmut389 CNDP1_HUMAN "G6R,I113V" "0,0" 84735 6529 sw9082;dbsnp2725 PKNX2_HUMAN;NP_071345.2 E110K 0 63876 7169 sw9084 HRSL5_HUMAN S31G 0 117245 11292 sw9085;sws1010;dbsnp878 CXD4_HUMAN;NP_699199.2 "A90V,G132D,G248E,L87F,P108S,P266L,T151P,T288M,V44I" "0,0,0,0,0,0,0,0,0" 219770 9195 sw9086;dbsnp25425 EXOC2_HUMAN;NP_060773.3 "A866S,D439N,F738L,N195T,P640L,T440M,V587I" "0,0,0,0,0,0,0" 55770 2472 sw9087;dbsnp10427 CNDP2_HUMAN;NP_060705.2 "G379S,I319V,P35L,R180Q,T403A,T428M,Y126H" "0,0,0,0,0,0,0" 55748 6529 sw908;dbsnp26167 RAMP3_HUMAN;NP_005847.1 "A77T,G20R,G26D,M33L,P85S,W56R" "0,0,0,0,0,0" 10268 13945 sw9090;dbsnp23140 ZFR_HUMAN;NP_057191.2 "D1053N,I520T,M466V,P713L,R669K,T463A,V461I" "0,0,0,0,0,0,0" 51663 1805 sw9092;dbsnp16486 F210B_HUMAN;NP_543011.2 "A161V,P126S,T168M" "0,0,0" 116151 13136 sw9094;dbsnp27610 F167A_HUMAN;NP_444509.2 "H26Y,H56Q,H91Q,P22A,P63L,R145H,R76C,S99T,T107S,T128M" "0,0,0,0,0,0,0,0,0,0" 83648 12654 sw9095;dbsnp27582 S35G5_HUMAN;NP_473369.1 "A143T,A36T,A43V,C117Y,C234S,C255F,E338D,F224L,G136C,G136R,G176E,G46D,G52V,I100M,K276E,L213V,L307P,M300V,P56R,Q123H,R211H,R30C,R90H,S252R,T190I,V140I,V140L,V305A,W103R,Y188C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83650 9941 sw9096 BT2A3_HUMAN "G79D,N300S,V148I" "0,0,0" - 5325 sw9097;dbsnp7668 WDR90_HUMAN;NP_660337.3 "A1027T,C1137Y,C1555R,C813Y,E1671V,E658K,H899Q,L1201F,L229F,M453V,P1001T,P250L,P745L,R1492H,R1600W,S1398N,S165T,V1368M,V537A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 197335 590 sw9098;sws1011;dbsnp4911 SPAC7_HUMAN;NP_660291.2 "E117K,G140S,P66L,P79L,R133H,R25Q,V111D" "0,0,0,0,0,0,0" 122258 13079 sw9099 CD036_HUMAN "S18N,S36Y" "0,0" 132989 14440 sw909;dbsnp24495 NSMA_HUMAN;NP_003071.2 "F113L,F326L,H124R,K229M,K307Q,P3L,R265S,T135S,V223I,V50A" "0,0,0,0,0,0,0,0,0,0" 6610 8080 sw90;dbsnp12037 CC151_HUMAN;NP_659482.3 "A470S,F557C,F58S,G501S,L142V,R545P,R85Q,T205I,T49P" "0,0,0,0,0,0,0,0,0" 115948 5193 sw9100;dbsnp14549 SPT17_HUMAN;NP_620151.1 "C333Y,M165I,M1T,M86L,M94V,N16S,N288I,P186S,R254C,R254H,R57G,T200I,V124I,V14A,Y105C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128153 9393 sw9101;sws1012;dbsnp28527 SUSD3_HUMAN;NP_659443.1 "A250T,G174R,G240E,K136E,Q177H,Q222K,R137W,R200C" "0,0,0,0,0,0,0,0" 203328 11805 sw9103 ALM1L_HUMAN N52S 0 - 69 sw9104;sws1013;spmut1182;dbsnp11964 MARK4_HUMAN;NP_001186796.1 "E205Q,P518L,R25H,R345Q,R377Q,R490Q" "0,0,0,0,0,0" 57787 3250 sw9105;dbsnp20893 KCNH8_HUMAN;NP_653234.2 "E984Q,I709T,L358M,N897T,P989S,Q179K,Q893R,R418Q,R495C,R768T,S1056N,S167G,V1092A,V855L,V898I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 131096 1692 sw9106;dbsnp5808 LLR1_HUMAN;NP_689542.2 "F70L,I96N,R168Q,R229W,S149I,T136A,T223A,V29A" "0,0,0,0,0,0,0,0" 122769 8294 sw9107;dbsnp15797 B3GT6_HUMAN;NP_542172.2 "E174D,L153I" "0,0" 126792 10164 sw9109 EP400_HUMAN T1308I 0 57634 129 sw910;dbsnp13501;dbsnp13503 B4GT2_HUMAN;NP_003771.1;NP_001005417.1 "G338R,Q122H,V178I" "0,0,0" 8704 8570 sw9111;sws1014;spmut1066;dbsnp16252 KI16B_HUMAN;NP_078980.3 "A1059T,D738Y,D793H,E816K,E816Q,G481D,G509R,G810R,H1022R,I1029T,I133V,I665V,K999N,L1101F,L746Q,L82V,M1027T,N1119S,N585T,R1007Q,R1033T,R1219K,R132W,R583H,R632L,R780W,R803W,R824S,S1138N,S149N,T1024I,T33M,T81I,V198I,V844I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55614 996 sw9112;sws1015;dbsnp6389 ALPK3_HUMAN;NP_065829.3 "A1137G,A1531V,A1557D,A1557T,A1694T,A1873V,A1878G,A501T,A516T,C710G,D421N,E1013K,E1427G,E929D,G1094R,G1191R,G1519D,G579E,G663D,G782R,H65R,L1118P,L1622P,L631P,M1588V,P1299L,P435S,P440S,P975S,Q1323R,Q602R,Q928R,R1021Q,R1045Q,R1412W,R1415C,R1665G,R1849W,R1907Q,R255Q,R336H,R541C,R59G,R732Q,R836L,S264R,T1068M,T317M,T338I,T414S,T673I,T761M,V245M,V310M,Y497C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57538 480 sw9113;dbsnp14746 FCRL2_HUMAN;NP_110391.2 "D497N,E434D,I202N,I202T,L260M,P160S,P443A,R131W,R254H,R299H,S238C,S357F,T217S,V313L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79368 6510 sw9114;dbsnp14603 FCRL1_HUMAN;NP_443170.1 "E426D,I209V,I310M,P351T,P3L,R162H,R416K,S345R,T200I,V124M,V380F" "0,0,0,0,0,0,0,0,0,0,0" 115350 6510 sw9115;dbsnp13639 ANM6_HUMAN;NP_060607.2 A194V 0 55170 9095 sw9116;dbsnp1788 MRGX4_HUMAN;NP_473373.2 "A182S,A182V,D169N,F8L,I65L,K298T,L83S,N245S,N25K,P269L,P3S,S150F,S29N,T21S,V124I,V142M,Y54C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117196 10148 sw9117;dbsnp2118 MRGX3_HUMAN;NP_473372.3 "A41T,A70V,C82R,D72N,K25N,L198R,N169D,N16H,N16K,P299S,R134H,R18C,R58W,T180I,T298P,W236R,W307C,W307R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117195 10148 sw9118;dbsnp2325 MRGX2_HUMAN;NP_473371.1 "F195C,F78L,H259Y,L31V,L55P,M324V,N16H,N62S,N62T,P238A,R140C,R290W,S313R,V108A,V43I,W243R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117194 10148 sw9119;dbsnp2348 MRGX1_HUMAN;NP_671732.3 "A298V,A46T,F273L,G193V,H133R,H137R,I36V,L51V,M103I,R131S,R55L" "0,0,0,0,0,0,0,0,0,0,0" 259249 10148 sw911;dbsnp26292 HUS1_HUMAN;NP_004498.1 "C44Y,D221E,D269N,L43F,Q147K,S126G,T196S" "0,0,0,0,0,0,0" 3364 11270 sw9120;dbsnp28344;dbsnp28345;dbsnp28346 IFT74_HUMAN;NP_001092693.1;NP_001092692.1;NP_079379.2 "F224L,I55L,I55M,K85R,N355T,T110A,T597I,V579M,Y358S" "0,0,0,0,0,0,0,0,0" 80173 5133 sw9121;dbsnp14749 VATG3_HUMAN;NP_573569.1 "E54Q,I44T,M106V,R17Q,R32Q,T77A" "0,0,0,0,0,0" 127124 14423 sw9122;dbsnp13902 PGRP4_HUMAN;NP_065126.2 "A325T,D301N,G154S,G192V,I13L,P3L,Q92R,R253C,S167L,S205R,V213I" "0,0,0,0,0,0,0,0,0,0,0" 57115 9136 sw9123;dbsnp13141 PGRP3_HUMAN;NP_443123.1 "A119D,A272V,A293V,A35T,A84P,E138G,G126S,G251S,I103T,M232V,N226K,P33S,Q146P,R68Q,R68W,V177L,V252M,V75I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114771 9136 sw9124;spmut1936;dbsnp11231 SIG10_HUMAN;NP_149121.2 "A226V,C377R,G312R,G365S,K314R,L362F,N210D,N292D,P175A,P251S,P262L,P262T,P305T,P311R,Q144K,Q530H,R205S,R239K,R247H,R320H,R334Q,R520S,S297L,S445P,T51I,T603K,V104A,V242I,V340L,V436I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89790 4093 sw9125;dbsnp8744 TRI47_HUMAN;NP_258411.2 "A277T,A418T,E500A,F502V,R187W,R269Q,R527C" "0,0,0,0,0,0,0" 91107 4717 sw9126;spmut1897;dbsnp6437;dbsnp6438;dbsnp6439;dbsnp6440;dbsnp6441 SENP8_HUMAN;NP_001165582.1;NP_001165581.1;NP_001165580.1;NP_001159812.1;NP_660205.3 "H121Y,S114N,T207A,V51I" "0,0,0,0" 123228 12697 sw9127;dbsnp29835 CX058_HUMAN;NP_689974.2 "A146P,A29T,M180I,Q21R,R187H,R233C,R244S,R24C,V7A" "0,0,0,0,0,0,0,0,0" 254158 10094 sw9128;dbsnp5839;dbsnp5840 DHRS1_HUMAN;NP_001129522.1;NP_612461.1 "A175P,P193T,T241I" "0,0,0" 115817 10582 sw9129;dbsnp9459 TEX34_HUMAN;NP_689556.2 "A184T,E294K,L77P,R173Q,R287Q,T282A,V142L,V142M,Y78H" "0,0,0,0,0,0,0,0,0" 124783 8913 sw912;dbsnp24189 PFD1_HUMAN;NP_002613.2 "E74D,M67R" "0,0" 5201 14376 sw9130 CH048_HUMAN "L285M,S28F" "0,0" 157773 10414 sw9131;dbsnp26079 DJC30_HUMAN;NP_115693.2 "A67T,F167L,G34R,L12V,P14L,T48K,Y51C" "0,0,0,0,0,0,0" 84277 12415 sw9132;dbsnp21752 CD045_HUMAN;NP_689756.2 "A46V,G93E,L174P,P178S,R134H,S75G,Y73H,Y84C" "0,0,0,0,0,0,0,0" 152940 13243 sw9133;dbsnp19278 TSC21_HUMAN;NP_689883.1 "D24N,I16V,L83F,P133L,P177S,R171Q,T37M,T95M,Y68H" "0,0,0,0,0,0,0,0,0" 200523 13358 sw9135 FA81B_HUMAN "A187V,P275S,R150G,R239Q" "0,0,0,0" 153643 7554 sw9136;dbsnp4017;dbsnp4018 CL042_HUMAN;NP_001092806.1;NP_940923.2 "A146S,E11D,F127L,P182R,Q106E,R337H,S263R,S36N" "0,0,0,0,0,0,0,0" 374470 9420 sw9137;dbsnp5801 PPR36_HUMAN;NP_758953.1 "A48T,D84H,F267L,F389S,G75C,K109E,M177V,M31K,N146T,P379H,R110Q,R276C,R313H,T376M,T83I,V208A,V339A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 145376 8108 sw9139;dbsnp18840 CB048_HUMAN;NP_872432.1 "G146R,P90L,S29L,W119S" "0,0,0,0" 348738 13747 sw9140;dbsnp14324 CA074_HUMAN;NP_689698.1 "C194Y,F185C,F185S,L146F,R206Q" "0,0,0,0,0" 148304 11508 sw9141;dbsnp28727;dbsnp28728 CI072_HUMAN;NP_060795.1;NP_001242983.1 "C215R,L393F,L393I,M299T,N207S" "0,0,0,0,0" 203228 6985 sw9142 CL028_HUMAN "A118S,M210L,S88L" "0,0,0" 196446 11370 sw9143 CC111_HUMAN "Q168R,T505K" "0,0" 201973 5685 sw9144;dbsnp24440;dbsnp24441;dbsnp24442 ZN323_HUMAN;NP_112161.3;NP_001230170.1;NP_001128688.1 "A128P,G365E,K205R,P124L,R222Q,R286W,R61Q,T50S" "0,0,0,0,0,0,0,0" 64288 5016 sw9145;dbsnp13789 CCD17_HUMAN;NP_001108410.2 "A130V,C452G,G447W,I557V,L207W,N529S,P353L,S361L,S580N,V470I" "0,0,0,0,0,0,0,0,0,0" 149483 4882 sw9146;dbsnp7548 ZN597_HUMAN;NP_689670.1 "E320K,F290L,G12E,H369R,K316N,L199V,M348L,N272K,P101T,P90A,T30S,V235I" "0,0,0,0,0,0,0,0,0,0,0,0" 146434 8063 sw9147;dbsnp18627 CC74B_HUMAN;NP_997193.1 "A255G,A255V,E276K,E281G,E345K,H257Y,K357E,K98E,L296F,N104D,P127R,P201S,P46L,R151H,R161C,R161H,R267Q,R346H,R374C,R377H,R377P,T169M,V309A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91409 8977 sw9148;dbsnp29686 MAGBA_HUMAN;NP_872312.2 "A44T,F50S,G197D,M90T,P40H,R65Q,V328I" "0,0,0,0,0,0,0" 139422 9734 sw9149;dbsnp19395;dbsnp19396 RMD2_HUMAN;NP_001164263.1;NP_001164262.1 "E81K,G259D,I115M,N6S" "0,0,0,0" 151393 5520 sw9150;dbsnp695 CJ090_HUMAN;NP_001004298.2 "A153T,A32V,D262N,D531E,F483S,G215E,H390R,H82Y,I315V,L2R,L487I,M57I,R134H,R300K,R586H,R590L,R590Q,R590W,R64G,T143M,V503F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118611 4083 sw9153;dbsnp7603 TEKT5_HUMAN;NP_653275.1 "A245S,A320V,A59T,C261R,D255G,D286H,E177D,E371Q,E435G,G202E,H196R,I237T,L415P,M239T,N403K,N60D,Q134K,Q315R,Q96E,R449W,R45C,S11G,S146L,S313C,T171M,T363M,V27I,V61I,Y36C,Y89C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146279 6915 sw9154;dbsnp5666 KAD7_HUMAN;NP_689540.2 "A220V,D104Y,D417N,E236K,E616K,E668K,F553I,H273R,I266V,K199R,K360E,K385E,K660N,L152P,L673P,N389K,R102Q,R552Q,R623W,S382G,T69S,T81M,V521I,V646M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 122481 3855 sw9155;dbsnp20597 CC030_HUMAN;NP_689752.2 "D195E,D473E,D99G,E192K,G312S,I323V,K476M,M182T,M194I,N45T,Q193H,Q257R,Q35R,R196H,R260H,R269S,R366H,R481C,S244N,S270C,S447L,T274I,V232I,Y388C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152405 6043 sw9156 TBATA_HUMAN R237Q 0 219793 9629 sw9157 MAGBI_HUMAN P40S 0 286514 9734 sw9158;dbsnp11688 CC114_HUMAN;NP_653178.3 "A199T,A499S,A509T,A521T,E207K,F562S,G249R,G632R,L371M,P457L,P468L,R244H,R25H,R329H,R368Q,R405Q,R405W,R46W,R52P,S38N,S638L,S639N,S639R,T89M,V649I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93233 4368 sw9159 YP010_HUMAN "R171S,R37H" "0,0" 642696 13098 sw9160;dbsnp26673 LRGUK_HUMAN;NP_653249.1 "A34T,A661V,C743R,D302Y,D584V,E778K,F638I,G122V,G275V,G297V,H796Q,I252V,K608N,L98S,M678T,P399L,Q31R,R120H,R18T,R433C,R528H,R552C,R552H,R674Q,R682C,R781W,S560P,S740F,S74L,S807G,V142I,V533L,Y630C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 136332 3060 sw9162;dbsnp553;dbsnp554 CCDC7_HUMAN;NP_659460.3;NP_001021554.1 "A194E,D259V,E283D,E440D,G103R,G431V,H252N,K148Q,K449T,L390F,M278T,M51T,P18L,R209C,R231G,S14L,T22A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79741 4818 sw9163;dbsnp1946 DNHD1_HUMAN;NP_653267.2 "A1552S,A2129G,C2510S,D125H,D317G,D317N,D3313N,D622A,D987G,E845K,F2041L,F262V,F403L,G2206E,G2206R,G3155S,G769R,H1392L,H1441N,H2225R,H2861N,H2861Y,H395R,H418Y,H471D,I2800V,I3016V,I3041T,I331F,I4666T,K1896N,L1484M,L2987P,L4041M,L846M,M2015T,N694S,N803Y,N840S,P1130A,P3807L,P893L,P894L,Q279P,Q39R,Q560E,Q697R,Q725K,R1108H,R1156W,R1157Q,R1300C,R1358C,R1456H,R1582W,R1808C,R186Q,R1873H,R1913H,R2072K,R2222L,R2233C,R2233H,R2476C,R2476H,R3244Q,R3255Q,R3321Q,R3433C,R370H,R3830H,R387Q,R4048Q,R4311C,R66Q,R749C,R854Q,R979H,S16P,S16T,S2037G,S2352R,T3358S,T3599M,T984I,V1016M,V1697A,V2204I,V2268F,V2374M,V240E,V300M,V4709A,Y431C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 144132 40 sw9164;dbsnp18814 CC138_HUMAN;NP_659415.1 "C89R,D59V,D99Y,E250V,G453D,H637Q,L549R,M445T,P385L,Q11H,R115K,R312T,S366L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 165055 4425 sw9165;dbsnp10541 CCD11_HUMAN;NP_659457.2 "E294K,K203R,R102H,R165H,R231C" "0,0,0,0,0" 220136 6407 sw9166;dbsnp9007 CCD42_HUMAN;NP_653282.2 "A144T,D184N,Q120H,Q268H,R104L,R104W,R128C,R136W,R16W,R22Q,R75C,T263M,T51P,W303R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 146849 10507 sw9168;dbsnp28639 KAD8_HUMAN;NP_689785.1 "D130G,E315K,E464Q,I5T,K476N,L121Q,P328S,R339C,R367C,R388Q,T169K,T461S,T4A,V227G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 158067 7023 sw9169;dbsnp18119 CC164_HUMAN;NP_659475.2 "A356V,A391V,A474T,A575V,D658E,E365K,E467Q,E64G,K357E,K638T,L498V,N708H,Q303H,Q674L,Q716P,R527S,S584T,S659L,S702I,S72T,T331I,V633F,V734M,W141G,W399R,Y58H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92749 3697 sw9170 CA147_HUMAN "G213A,P233S,T259M" "0,0,0" 574431 11484 sw9171 CL066_HUMAN "A443S,M139I" "0,0" 144577 7670 sw9173;dbsnp4146 CQ10A_HUMAN;NP_653177.3 "N106S,P231S,P79H" "0,0,0" 93058 11974 sw9174;sws1016;spmut1392;dbsnp28308 NSE2_HUMAN;NP_775956.1 "F126C,V66A" "0,0" 286053 11975 sw9175;dbsnp11694 JSPR1_HUMAN;NP_653217.1 "G150A,G45S,M1I,P267S,R233Q,V92A" "0,0,0,0,0,0" 126306 10113 sw9176;dbsnp27863 PCMD1_HUMAN;NP_443169.2 "A323G,D311N,N312I,P274R,P342S,S302R" "0,0,0,0,0,0" 115294 9404 sw9177;sws1017 CE034_HUMAN T32S 0 375444 4718 sw9178;dbsnp6773 CBPC4_HUMAN;NP_689549.2 "A18V,E99K,G593S,G971S,H1059R,K962E,L629V,L706F,M501I,N1050S,P223L,P417L,Q1010R,R112C,R650C,R80H,S328C,S435P,V162M,V210I,V709A,V802I,V849M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 123624 1836 sw9179;dbsnp16376 FA65C_HUMAN;NP_543019.2 "A187T,C566S,D264Y,D318G,D387N,D445H,E415D,E561K,G155S,G17E,K594M,L580P,M334T,R239W,R292Q,S491L,V742M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140876 2362 sw9180;dbsnp9004;hgmd0613_1830 FA20A_HUMAN;NP_060035.2 "F402L,G338S,G65S,L496F,L530S,N332K,N389S,R156Q,R176G,R176Q,R176W,R276Q,R392W,R411Q,T504I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54757 5352 sw9181;dbsnp16524 HS12B_HUMAN;NP_443202.3 "E221K,G444R,K420R,K439T,R251C,R264W,R270H,R275C,V23L,V299M,W91R" "0,0,0,0,0,0,0,0,0,0,0" 116835 4205 sw9182;dbsnp30805 H6ST2_HUMAN;NP_671704.3 "F530S,K127N,R514H" "0,0,0" 90161 4646 sw9183;dbsnp10846 NALP4_HUMAN;NP_604393.2 "A144T,A427T,A491T,A717T,A859T,A914P,A914T,C659Y,D203G,D250N,E323A,E383D,F458L,G638R,G94A,H734Y,I340S,K128N,L774M,P212L,P390L,P390Q,Q925L,R109H,R420Q,R708H,R805H,S200N,S617G,S617R,S808N,S920N,T162M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147945 2130 sw9184;dbsnp516 ZN488_HUMAN;NP_694579.1 "A65G,A72V,C230R,C277S,D289N,E38K,G270V,P106L,P12L,P249S,R285H,R43W,R67W,S145G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 118738 9906 sw9185;dbsnp16306 ZSWM3_HUMAN;NP_542790.2 "A256V,A456G,A476T,E597D,H319R,L41F,N364H,Q609L,R291W,R445Q,R673C,R87G,V259A,Y10F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 140831 4110 sw9186 WDR65_HUMAN D523Y 1 149465 1199 sw9187;sws1018;dbsnp11822 ZN560_HUMAN;NP_689689.2 "A205V,A567T,C195F,C350R,D80G,G418D,G652V,M763R,N364D,P388L,R275H,R532H,S268G,V13M,Y628C,Y630C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 147741 3286 sw918;dbsnp2593;hgmd0613_1237 SCN2B_HUMAN;NP_004579.1 "P210L,R47H" "1,0" 6327 12629 sw9190;dbsnp25141 CF195_HUMAN;NP_689767.2 "A44T,I2F,M33V,P43S,P95L,R120G" "0,0,0,0,0,0" 154386 14296 sw9192;dbsnp20145 CEP63_HUMAN;NP_079456.2 "A172S,G14S,G15E,G325R,I146T,I220S,I569L,K553E,M92T,N190S,N223S,N385K,Q185H,R444Q,R65G,R680C,S651L,T302S,T620I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80254 4051 sw9193;dbsnp8649 CQ077_HUMAN;NP_689673.2 "E41K,G139E,G53D,L239F,P206S,P235A,P23A,R184G,R47S,S56F,T11I,T198I,V147M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 146723 12055 sw9195;dbsnp22048 YTDC1_HUMAN;NP_001026902.1 "H183R,P604L,R136Q,S118A" "0,0,0,0" 91746 3812 sw9196;dbsnp8251 COG8_HUMAN;NP_115758.3 "A2V,E296K,I548T,I7S,L517R,P530L,P531S,T561M,V129A,V193A" "0,0,0,0,0,0,0,0,0,0" 84342 5001 sw9197;dbsnp7965;dbsnp7966;dbsnp7967 ZNF48_HUMAN;NP_689865.2;NP_001201838.1;NP_001201835.1 "A65V,D109V,D47G,D92H,G299R,I224V,P173Q,Q21R,R14G,R255W,R507P,T262M" "0,0,0,0,0,0,0,0,0,0,0,0" 197407 4936 sw9198;dbsnp19057 WDR92_HUMAN;NP_612467.1 "A281T,G54R,H267P,I324V,K298E,M241V,P7S,S310C" "0,0,0,0,0,0,0,0" 116143 9496 sw919;spmut1195;dbsnp25303 MCE1_HUMAN;NP_003791.3 "G262D,H576Q,P414L,R594H,V253I,V503L" "0,0,0,0,0,0" 8732 5170 sw91;dbsnp26032 CG063_HUMAN;NP_001034795.2 "P459L,R306C,S22R,S854R,T825M,T885K,T885M,V490M,V714I,Y78S" "0,0,0,0,0,0,0,0,0,0" 79846 2382 sw9200;dbsnp22016 F218A_HUMAN;NP_694572.1 "H54R,P46A,P46L,R131S" "0,0,0,0" 152756 13781 sw9201;dbsnp7977 CP055_HUMAN;NP_694570.1 "E28K,H124Y,K16N,R113Q,R123W,S45L,T129I,T97M,V23A,V2L" "0,0,0,0,0,0,0,0,0,0" 124045 14102 sw9202;dbsnp26653 CG026_HUMAN;NP_076972.2 "A187V,N67D,N67Y,R126G,R245C,S29T" "0,0,0,0,0,0" 79034 7611 sw9203;sws1020;dbsnp22529 JKIP1_HUMAN;NP_653321.1 "D477N,D586E,K251R,S2L,T16M" "0,0,0,0,0" 152789 2933 sw9204;sws1021;dbsnp8006 ZN75A_HUMAN;NP_694573.1 "A111T,V84A" "0,0" 7627 6474 sw9205;dbsnp11228 ZN681_HUMAN;NP_612143.2 "C371Y,D84H,H388P,H472R,H496R,H548Q,K171N,K336R,K479R,K525E,L295S,R250G,R284C,R367K,S139R,S225L,S266L,T137S,T277I,Y103H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148213 1203 sw9206 CL055_HUMAN "L562F,P11S,T558A" "0,0,0" 144535 3131 sw9207;dbsnp11504 ZN714_HUMAN;NP_872321.2 "H212Q,H243Q,H391Y,H415Y,I129M,I473L,I473V,I474V,K220Q,K332R,K470E,P452S,R230K,T273A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148206 1203 sw9208;dbsnp11966 MBOA7_HUMAN;NP_077274.3 "A229T,A458S,E4K,F261L,P265S,P466R,R378W,R455Q,V415L" "0,0,0,0,0,0,0,0,0" 79143 7170 sw9211;dbsnp3810 ZN641_HUMAN;NP_689533.2 "I85V,Q363P,R428W,S231C,T265R,W226C" "0,0,0,0,0,0" 121274 7803 sw9212;dbsnp23455 S6A18_HUMAN;NP_872438.2 "A4D,C12S,C501Y,D393V,D600H,F555L,G101A,G496R,G79S,G99R,I169F,M196I,M404V,M409I,N317D,P478L,P564Q,R164Q,R252W,S280L,T32I,T390M,T91M,W438R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 348932 4746 sw9215;spmut1775;dbsnp9379 RILP_HUMAN;NP_113618.2 "A352T,A68S,A81T,G284S,L391V,P235A,P335S,R245L,R245W,R281Q,R295W,R349Q,Y271S" "0,0,0,0,0,0,0,0,0,0,0,0,0" 83547 8566 sw9216;dbsnp27769 TSNA1_HUMAN;NP_659440.2 "A366V,E240K,E452A,F18L,G395W,G61R,G9A,K487T,P288L,P46L,P97H,Q27R,R15C,R166C,R179H,R189Q,R270Q,R324C,R331H,R55C,R55P,T118A,V224M,V268I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 203062 6429 sw9217;dbsnp8721 ZN830_HUMAN;NP_443089.3 "E169K,E334K,F135L,H99Q,I16V,R76G,S154T,S93P" "0,0,0,0,0,0,0,0" 91603 9167 sw9218;sws1022;dbsnp10585;dbsnp10586 F210A_HUMAN;NP_001092271.1;NP_689565.2 "E167K,E67D,I169T,L56W,N161T,Y39N" "0,0,0,0,0,0" 125228 11436 sw9219;dbsnp12669;dbsnp12670;dbsnp12671 ZN583_HUMAN;NP_689691.2;NP_001153333.1;NP_001153332.1 "E405V,F324I,M544V,R194Q,V401I" "0,0,0,0,0" 147949 4254 sw921;dbsnp10892 LIRA1_HUMAN;NP_006854.1 "A319T,A337T,A439G,C397Y,C98Y,D112E,E262G,F99Y,G399S,H103D,I39T,I77L,K224R,L220P,M418V,N169K,P286H,P429L,Q279E,R12G,R191H,R263C,R289C,R289P,R323P,R368C,R368H,S137L,S153G,S251G,S298Y,T343I,V149M,V387L,V5L,W307C,Y291H,Y301H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11024 4574 sw9220 CH049_HUMAN "I81V,R26G,R95G" "0,0,0" 606553 12324 sw9221;dbsnp9666 TTC25_HUMAN;NP_113609.1 "A18G,H471R,P4S,R114Q" "0,0,0,0" 83538 4352 sw9222;dbsnp11959 ZN582_HUMAN;NP_653291.1 "K224N,R69T,V300L,V49I" "0,0,0,0" 147948 6363 sw9223;dbsnp25050 BROMI_HUMAN;NP_689943.4 "A736V,A739T,E1232A,H1223Y,H270R,I280V,I430L,I599V,L242S,P202A,Q1189R,R152C,R82Q,S157F,S505C,T1180I,T375K,T632I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 221322 1262 sw9224;dbsnp11497 ZN285_HUMAN;NP_689567.3 "A28S,A466G,A466V,A60G,C190R,C190Y,C374S,D26N,E220G,E585K,G350W,G480R,G520D,H101D,H334R,H442Q,I114V,I507T,K285E,K61T,K78E,L578P,M171V,N121K,N208S,N208T,N31K,N528H,N528S,R536G,R582K,R80K,S140N,V15G,Y288C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26974 4680 sw9225;dbsnp24805 KLH32_HUMAN;NP_443136.2 "D146G,E578V,K298E,N129S,R178C,R5C" "0,0,0,0,0,0" 114792 4914 sw9226;dbsnp26701 RUN3B_HUMAN;NP_612147.1 "E206G,L440P,L47M,R345S" "0,0,0,0" 154661 7151 sw9227;dbsnp12353 ZN599_HUMAN;NP_001007249.1 "A121V,A80T,C146S,D13N,E480V,G342S,H385D,K265N,L178F,L178V,M554V,Q219K,R216W,R237C,R237H,R307Q,R351C,S209T,T349M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 148103 4825 sw9228;dbsnp22211 SCLT1_HUMAN;NP_653244.2 "D104E,E149D,E243K,E354D,G413D,I394V,M256I,Q562K,R458H,R503K,S441C" "0,0,0,0,0,0,0,0,0,0,0" 132320 4186 sw9229;dbsnp27990;hgmd0613_2420 CH037_HUMAN;NP_808880.1 "I171R,K174R,M146L,P19A,P19T,Q182R,R131H,R177W,R201H" "0,0,0,0,0,1,0,1,0" 157657 12811 sw922;dbsnp11095 LIRB3_HUMAN;NP_006855.2 "A489V,A4T,E576K,E90Q,G149R,G373R,H151D,H375P,H405Y,H409L,H534Y,H631Y,L129Q,L628V,L69W,M555I,M88I,Q539H,R20H,R367C,R465L,R525G,R578K,R59Q,S122N,S561P,S590P,T187N,T2M,T582A,T6A,V21M,V325I,V341M,V574A,W205Q,W348R,Y400F,Y400H,Y400R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11025 4574 sw9233;dbsnp30596;hgmd0613_2392 PTHD1_HUMAN;NP_775766.2 "A470D,E479G,F836L,H359R,I173V,L73F,N497K,P251L,T653S,V195I" "1,1,0,1,1,1,0,0,0,1" 139411 2672 sw9235;sws1023;dbsnp9266 ASB16_HUMAN;NP_543139.4 "A200T,A218V,A234T,A47T,E223G,G166R,L411P,N294S,Q210R,Q63H,R132Q,R132W,R144C,R153Q,R428Q,R428W,R54H,S331A,S425I,T201K,T240I,T249A,W391C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92591 7530 sw9236;dbsnp22767 NP1L5_HUMAN;NP_715638.1 "D170E,E142K,E154Q" "0,0,0" 266812 13326 sw9237;spmut1477;dbsnp9667 PCFT_HUMAN;NP_542400.2 "A335D,D156Y,G147R,G338R,N419S,P425R,R113C,R113S,R376Q,R376W,R63S,S318R,T295A" "1,1,1,1,0,1,1,1,1,1,0,1,0" 113235 7418 sw9238;dbsnp4021 HUTI_HUMAN;NP_689648.2 "A296T,K216N,N354K,P360H,S3G,V231I,V347I" "0,0,0,0,0,0,0" 144193 8017 sw9239;dbsnp11410 ANR27_HUMAN;NP_115515.2 "E167Q,G408D,N984K,N999Y,P371R,P761R,Q204E,Q204P,R1017W,R21C,R875W,S628F,S657G,T878M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84079 1897 sw923;dbsnp10962 LIRB5_HUMAN;NP_006831.1 "A541T,A555P,A555T,D111Y,D247G,D530H,G12R,G297S,G536R,H289D,H289N,H289Y,I323R,I323T,I519T,L560F,P109L,P321H,P321T,P364L,P549S,P586T,Q556R,R287P,R495C,R542P,R575G,V21M,V537G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10990 4574 sw924 ABCB7_HUMAN "F346I,R315G,V581A" "0,0,0" 22 3581 sw9240;sws1024;dbsnp14590 LRRC7_HUMAN;NP_065845.1 "G1144S,H1054Y,M1023V,N293S,N635K" "0,0,0,0,0" 57554 788 sw9241;sws1025;dbsnp14385 KCC1G_HUMAN;NP_065172.1 "E259Q,M322R,R20Q,R61W,S10G,S129L,V329I" "0,0,0,0,0,0,0" 57172 7081 sw9242 CLIC6_HUMAN D632G 0 54102 4043 sw9243;dbsnp13412;hgmd0613_2127 PVRL4_HUMAN;NP_112178.2 "D334V,F53L,L146M,N489D,P104T,P107L,P463A,R443C,R493W,T185M" "0,0,0,0,0,0,0,0,0,1" 81607 6469 sw9244;dbsnp1326 MUS81_HUMAN;NP_079404.3 "A410T,L189F,N390H,Q481H,R139Q,R180P,R301C,R350W,R37H,R431H,S115F,S470L,T299M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 80198 5824 sw9245;dbsnp4201 FOXN4_HUMAN;NP_998761.2 "M1I,P137L,P152S,P360T,P394L,Q480H,R316C,R316H,V336M" "0,0,0,0,0,0,0,0,0" 121643 6364 sw9246;dbsnp536 PRAP1_HUMAN;NP_660203.3 "A47T,D108H,E54G,G81S,H101R,K69R,P116L,P53L,P53S,V102I" "0,0,0,0,0,0,0,0,0,0" 118471 13901 sw9247;dbsnp11748 BIRC8_HUMAN;NP_203127.3 "A156T,A225T,A225V,D127N,E76G,F11S,H196Y,K129N,L165S,R120G,R182C,R182H,S224N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 112401 6711 sw9249 SPB11_HUMAN "A51E,I181A,I181T,I293T,M148T,P303S,R188W" "0,0,0,0,0,0,0" 89778 8747 sw9251;sws1027;dbsnp13179 FCRL3_HUMAN;NP_443171.2 "A312D,A552T,C497R,D61N,E634K,G296R,G297R,G604E,I378V,L146S,L307F,L42P,L495P,M1K,M305I,N28D,N721S,P660L,R279C,R293L,R337H,S503F,S566Y,S703C,S708R,V489M,V586I,V93G,Y415F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115352 3752 sw9252;dbsnp24589 COLA1_HUMAN;NP_110447.2 "A158T,A747D,A946G,G560S,I495T,L277P,L821P,N338K,P490T,P583R,P777T,P827A,Q156L,R517H,S591P,T343M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81578 2297 sw9253;dbsnp1947 ARAP1_HUMAN;NP_001035207.1 "A375V,A529T,A72G,A754V,F452L,G295R,G317R,I1191F,P1322S,P254L,P314A,Q1047E,Q837H,R1068Q,R1073Q,R1073W,R358Q,R422H,R766W,R907Q,T699M,V1225I,V1408L,V1408M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116985 899 sw9254;dbsnp6478 CTSR2_HUMAN;NP_742093.1 "A3P,A3S,E8G,F367L,I124T,L218V,Q228P,Q228R,R19C,R225H,R358Q,R513H,S281L,S385L,S407T,T384M,T430R,V148L,V57I,W307S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117155 6131 sw9255;dbsnp10537 SPB12_HUMAN;NP_536722.1 "G90R,H59Y,K227E,N289T,N338S,R373Q,S294L" "0,0,0,0,0,0,0" 89777 8490 sw9256;dbsnp1149 AGAP4_HUMAN;NP_597703.2 "C662Y,E533V,G37E,H66Q,I650T,K342R,K661E,Q448L,R484C,R492H,R542Q,R610C,T488N,T536M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 119016 4207 sw9257;dbsnp21955 QRFPR_HUMAN;NP_937822.2 "E23Q,F61V,G250C,G388R,G52S,H149Q,H257R,H293R,H413R,I232S,L344S,L34F,L410F,R22Q,R371W,R72C,S90N,T404A,V69G,V70L,V79D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84109 7930 sw9258;dbsnp29684 GP101_HUMAN;NP_473362.1 "E308D,E368K,G31S,L376P,P432S,R276K,R381C,T293I,V124L,V238I,V298I,V409M,V423M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 83550 6511 sw9259;spmut798;dbsnp22191 GPR78_HUMAN;NP_543009.2 "A330T,G4S,P167L,P167R,R201S,R235C,R236C,R311Q,R318C,R342H,V18M" "0,0,0,0,0,0,0,0,0,0,0" 27201 9342 sw925;spmut1233 MITF_HUMAN R310K 1 4286 6190 sw9260;dbsnp16622 NECA3_HUMAN;NP_112509.3 "H250Q,P254L,P362A,P362S,V109L" "0,0,0,0,0" 63941 8663 sw9261;dbsnp26783 CASD1_HUMAN;NP_075051.4 "A692T,E276D,F563L,L32V,N388D,N641H,Q540H,R306Q,R386S,R623H,S190T,T345I,T723I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 64921 3234 sw9262;spmut980;dbsnp24986;dbsnp24987 IP6K3_HUMAN;NP_001136355.1;NP_473452.2 "A240E,A240V,A308V,A351T,E337G,E347K,E347Q,G15R,G163R,M12V,R133C,R366C,R46Q,R60W,S156L,S355G,T109M,V16M,V277M,V312I,V31M,Y378S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 117283 8381 sw9263;dbsnp20792 DCBD2_HUMAN;NP_563615.3 "D388N,D723N,I144M,I672F,I672V,R456H,R572Q" "0,0,0,0,0,0,0" 131566 3408 sw9264;dbsnp24422;hgmd0613_2217 IL17F_HUMAN;NP_443104.1 "E126G,H161R,R72H,S18L,S95L,V130I,V155I" "0,0,0,0,1,0,0" 112744 13662 sw9265;spmut1524;dbsnp10972 PGRP2_HUMAN;NP_443122.3 "A126V,A366T,G234V,H464Y,M270K,Q363P,R288Q,R293Q,R394Q,R434H,R434L,R476W,R99Q,T257N,T46A,V457L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114770 5471 sw9266;dbsnp18355 MOGT1_HUMAN;NP_477513.2 "A13T,E328K,M172L,N249S,S163P,S165A,V142L,Y87C" "0,0,0,0,0,0,0,0" 116255 10025 sw9267;dbsnp2648 DGAT2_HUMAN;NP_115953.2 "G250D,G318S,M361I,P345L,R268C,R297Q,R317G" "0,0,0,0,0,0,0" 84649 8834 sw9268;dbsnp1743 ARHGH_HUMAN;NP_055601.2 "A1299V,A1465D,A2018T,A335T,A524V,C1776Y,E1792K,E579K,E579Q,E938K,G1363E,G1704S,G1719S,G1879S,G450E,H1015L,I236T,L428M,L722F,M775T,P1995A,P1995T,P355L,P807R,P896L,P915L,Q1130E,Q805E,R1915Q,R1974H,R2037Q,R371H,R388L,R392C,R604H,S1037C,S1037F,S239Y,S317T,T1386N,V1210A,V1863M,V1883M,V978F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9828 394 sw9269;dbsnp18500 INP4A_HUMAN;NP_001127696.1 "F779Y,G767E,T604A" "0,0,0" 3631 2196 sw926;spmut2028 SRGP2_HUMAN R874G 0 23380 1815 sw9270;dbsnp11488 ZIM3_HUMAN;NP_443114.1 "D95G,E28K,G205R,G313E,G387E,G78D,H217D,I379V,K249R,L69M,N157D,N433K,P159L,Q252R,R430Q,R430W,R7K,V463I,V74L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114026 7171 sw9272;dbsnp17421 TSSK2_HUMAN;NP_443732.3 "C245S,D220N,D308E,E244K,G289A,K27R,M61V,Q193P,R114C,R160C,R226C,R237H,R33H,S213P,T280M,V204M,Y197C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23617 9258 sw9273;dbsnp2552 M4A10_HUMAN;NP_996776.2 "D233N,I130N,K49Q,L132F,L78P,P219L,Q235K,S105A,T164K,T164M,V220A" "0,0,0,0,0,0,0,0,0,0,0" 341116 11545 sw9274;spmut1378;dbsnp6579 NOX5_HUMAN;NP_078781.3 "A256V,E44K,E520A,F66L,G11A,G588R,K523N,K611E,K734E,K97I,L380F,M95K,M95V,N699K,P143A,P466T,R297W,R465Q,R530H,R576H,R712H,R759G,S282R,S404F,S74N,T299M,T356M,V446M,V735A,Y487C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79400 3476 sw9275;dbsnp16640 DB118_HUMAN;NP_473453.1 "A67V,C34R,D40G,I56V,R52Q" "0,0,0,0,0" 117285 14359 sw9276;dbsnp14742 SPRR4_HUMAN;NP_775103.1 "P45S,R8Q" "0,0" 163778 14830 sw9277;spmut687;dbsnp13523 FCRL4_HUMAN;NP_112572.1 "A389T,A390T,A9V,E204D,E76K,G268C,K457R,N255S,P12S,Q215R,Q351E,R412C,R413W,R60Q,S6P,V452A,Y493C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83417 6394 sw9279;dbsnp13530 ADCYA_HUMAN;NP_060887.2 "A182D,A681V,C1510W,C1521Y,C1551R,C253Y,D47N,D965E,E1407G,E7A,G1079R,G1198R,G385S,H746Y,I697V,I709V,L802M,M473T,N1181S,N1438S,N1590I,N1608D,N714S,P1027S,P1353L,R1207W,R176C,R465H,R914C,R968P,R968Q,T234M,V1358L,V564A,Y462C,Y555C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55811 721 sw927;dbsnp13876 PLXA2_HUMAN;NP_079455.3 "A1443T,A267T,A595T,A805G,A805S,E369G,G251V,H837R,I774F,M1213V,M1391L,P31S,P618H,P97A,Q57R,R1878Q,R205Q,R46H,R5Q,S122Y,S842F,T1151A,T950N,V1536M,V1751M,V445L,V623I,V81L,V952M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5362 491 sw9280;dbsnp24807 TREF1_HUMAN;NP_277037.1 "C834S,D1183N,D1187N,D968E,E575K,G119D,G75D,G75S,I759M,N1019T,N523S,P1082R,P272Q,P556R,Q1149H,R451H,R98C,S350P,S412N,S599F,S668T,S87G,T365A,T431A,T998M,V69I,V766I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55809 1421 sw9281;dbsnp15032 TSSK3_HUMAN;NP_443073.1 "A140T,I251S,I71V,R133Q,S235L,V198M" "0,0,0,0,0,0" 81629 11521 sw9282;dbsnp14055;dbsnp14056 GBP5_HUMAN;NP_001127958.1;NP_443174.1 "A119V,A301T,E321D,E321Q,E321V,E448K,E4Q,H91N,I235V,M514I,R48H,S171R,S426Y,S465F,S52P,T35M,V584I,Y53F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115362 4696 sw9283;dbsnp13040 GBP4_HUMAN;NP_443173.2 "A625V,D190Y,E375Q,E546K,E551D,E551G,E551K,G14V,G499A,H371L,I379V,K125E,L549M,M542I,M545I,M545L,R244Q,R427Q,R521K,R72H,V119L,W459R,Y541N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 115361 4696 sw9284;dbsnp22114 SORC2_HUMAN;NP_065828.2 "D351E,G345R,R697H,S484I,S716P,T681M,T695M,T745I" "0,0,0,0,0,0,0,0" 57537 1529 sw9285;dbsnp11263 SIG12_HUMAN;NP_443729.1 "A526V,A82V,G218R,G37D,H217Q,H398Y,I497V,K508Q,M274I,P347L,P546Q,P550L,P81H,P81T,R528W,R72Q,T160I,T341I,T478M,V266E,V400F,V438L,V516M,Y494S,Y586C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89858 5196 sw9286;dbsnp11601 ZN317_HUMAN;NP_065984.3 "A269G,D14N,D338G,G160S,G340V,G484S,N260S,Q19H,T166A,V414I" "0,0,0,0,0,0,0,0,0,0" 57693 5197 sw9287;dbsnp21985 KLHL5_HUMAN;NP_057074.3 "G508S,I10L,M687L,P232S,R282H,R36H,R36S,S693C" "0,0,0,0,0,0,0,0" 51088 3569 sw9288;dbsnp14235 AQP10_HUMAN;NP_536354.2 "A216V,A292D,H123Y,N54S,R15Q,V66I" "0,0,0,0,0,0" 89872 10838 sw9289 DUX5_HUMAN "A60V,P118L,Q119P,S180A,S180T" "0,0,0,0,0" 26584 6926 sw928;dbsnp13072 IGSF3_HUMAN;NP_001007238.1 "D1020E,D1021E,D1021V,D1022E,D1025N,D254N,E1008K,E670V,G763S,G824E,G998A,H759Q,I619T,N626S,N961S,P310S,P440Q,P440S,Q1073R,Q490H,R230C,R343W,R443H,R629C,R651W,R660Q,S51P,S631I,S723L,T33M,V900M,W575R,Y654C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3321 1385 sw9290;spmut1337;dbsnp10708 NED4L_HUMAN;NP_001138439.1 "P355L,S497R" "0,0" 23327 2211 sw9291;dbsnp25217;hgmd0613_1538 SYGP1_HUMAN;NP_006763.2 "D201E,G1048W,G991R,I1115T,I683V,P1283L,R127W,R749Q,R785P,S788P,T1310M,T790N" "0,0,0,0,0,0,0,0,0,0,0,0" 8831 1076 sw9292;dbsnp30600;dbsnp30601;dbsnp30602;dbsnp30603 PNMA5_HUMAN;NP_443158.1;NP_001171853.1;NP_001096620.1;NP_001096621.1 "A297T,G236E,N107H,P388A,R282C,R349W,R96C,V274M" "0,0,0,0,0,0,0,0" 114824 7629 sw9294 F193B_HUMAN P816S 0 54540 2607 sw9295 K1920_HUMAN V431I 0 - 296 sw9296;dbsnp9010 RN157_HUMAN;NP_443148.1 "A624T,C638S,C638Y,D262N,E455D,E596V,G208R,P464L,P80H,R165Q,R652Q,S31N,S356T,T139M,V410I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114804 4281 sw9298;dbsnp22938 PKH4B_HUMAN;NP_443141.3 "A1219G,A1219V,A353V,A432V,A660V,A72T,A98P,D31E,E731K,G120E,G1211V,G131C,G149S,G18R,G566R,G655S,G738R,H848R,K901R,L482P,L767I,L790P,M838T,P580L,P733S,Q388R,R1076Q,R1136Q,R1146G,R1267H,R1269C,R1269H,R166P,R166Q,R220H,R346H,R597H,R671G,R67Q,R822W,R882H,R921Q,R921W,R939H,R968L,S297T,S39N,S57G,S682F,T1190I,T669P,T760I,V1061I,V1162I,V125I,V163M,V203I,V37A,V895M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 153478 1228 sw929;dbsnp13747 SDC3_HUMAN;NP_055469.3 "A198T,A282T,A397T,A96P,A96T,D303N,E323A,R98C,T197M,T329I,V208I,V429I" "0,0,0,0,0,0,0,0,0,0,0,0" 9672 7720 sw92;dbsnp6043 PSB11_HUMAN;NP_001093250.1 "A203T,G49S,H42R,R115Q,R169C" "0,0,0,0,0" 122706 10851 sw93 KRBA1_HUMAN H320R 0 84626 1981 sw9300;sws1032;dbsnp22123;hgmd0613_1615 NEK1_HUMAN;NP_036356.1 "A463V,A577T,A598T,D1180N,E724G,G408R,I10F,K576E,K745N,L144F,L76V,N717K,P287A,Q343R,Q516K,Q854R,Q883E,R355G,R509G,V685M,V98I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4750 1193 sw9301 CSMD1_HUMAN G3312W 0 64478 88 sw9302 LMTK3_HUMAN L929V 0 114783 846 sw9303;dbsnp11661 PLIN4_HUMAN;NP_001073869.1 "A1027V,A1124T,A466T,A598T,A826E,A826G,A826V,A974T,D310G,F653L,G1146E,G263S,G329S,G428S,G714D,I734V,K302R,K335R,K761N,K860N,L432V,M298V,M331V,M430V,M802T,N354D,N431H,N849D,Q72E,Q72K,R1134C,R434K,S1069R,S312N,S312T,S659G,T304S,T345S,T421A,T510S,T553M,T774S,V1179I,V124A,V124G,V173I,V333L,V498L,V592M,V917I,V92M,V998I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 729359 1056 sw9304 TRNT1_HUMAN P23L 0 51095 7881 sw9305;sws1033;spmut1973;dbsnp7602 SMG1_HUMAN;NP_055907.3 "A1209S,A167V,A2602T,A35T,A588S,A952G,D160N,D320G,F1016L,G2258S,G2889S,G465S,H546R,I1332V,I612K,K3041R,L777M,M2345K,N1103H,N151Y,N603S,N832D,N969S,P1275R,P2899A,Q1292P,Q2730E,R1029Q,R126C,R1418T,R2635C,R812C,S1358P,S144C,S745F,S753C,S809C,T1072S,V1706I,V2391I,V829I,Y2684C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23049 94 sw9306;spmut152;dbsnp5679 ASB2_HUMAN;NP_057234.2 "A170T,A221T,A366P,A56V,C405Y,E196K,I509M,N184D,N201S,P160S,P292L,P572L,Q123K,R200C,R32W,R555Q,S20T,V537I,Y462H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51676 4744 sw9307;dbsnp19061 AL2SB_HUMAN;NP_631902.2 "A198E,E387K,E72D,F382L,G372E,R162C,R222C,R93P,V43L,V80L" "0,0,0,0,0,0,0,0,0,0" 130540 7671 sw930;dbsnp14175 AUXI_HUMAN;NP_055602.1 "A220T,A515V,C441S,I192V,L429F,M76L,R225C,R562H,S663L,S671N,T695S" "0,0,0,0,0,0,0,0,0,0,0" 9829 2240 sw9310;dbsnp19462 TM237_HUMAN;NP_001037850.1 "A366S,D155A,R192H" "0,0,0" 65062 8427 sw9311;dbsnp11676 CIB3_HUMAN;NP_473454.1 "D154E,F112L,G139A,G139E,R137L" "0,0,0,0,0" 117286 13229 sw9312;dbsnp17427 DERL3_HUMAN;NP_001002862.1 "A157V,A211V,F149L,M100L,P152L,P233L,T94K" "0,0,0,0,0,0,0" 91319 12156 sw9313;spmut88;dbsnp1684 ALKB3_HUMAN;NP_631917.1 "D189N,D228E,E75Q,G39C,H153D,I72V,N226S,P268L,R164C,R5T" "0,0,0,0,0,0,0,0,0,0" 221120 11175 sw9315;dbsnp9191 GSDMA_HUMAN;NP_835465.2 "D29N,E130K,G200D,R18Q,T314N,V128L,V242F,V336A" "0,0,0,0,0,0,0,0" 284110 7672 sw9316;dbsnp27372 RHG07_HUMAN;NP_872584.2 "D1327Y,D84N,E1199V,E56G,F257I,H998Q,I716T,K309M,L325P,L81V,N255D,N712S,P1455H,P241A,P241T,P282S,P567L,Q1184L,Q254H,Q317H,Q320H,R27C,R27H,R338C,R351Q,R351W,R388W,R723H,R730Q,S1209C,S1349L,S666C,T260I,T417I,T738M,T959A,V1025A,V1371L,V791M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10395 795 sw9317;dbsnp25212 PP1RA_HUMAN;NP_002705.2 "E525D,E771D,G576A,G623D,H751P,R173P,S764N,T217A,V662L" "0,0,0,0,0,0,0,0,0" 5514 2394 sw9318;dbsnp2620 DEPD7_HUMAN;NP_001070710.1 "A192T,K299E,T464I,V38I" "0,0,0,0" 91614 6453 sw9319;dbsnp4349 S38A2_HUMAN;NP_061849.2 "A35V,H499R,L224F,L344F,M467V,N127S,N23S,N48K,P31S,R412H" "0,0,0,0,0,0,0,0,0,0" 54407 6548 sw931;dbsnp14229 K0494_HUMAN;NP_055589.1 "G294E,K410E,L207I,L337P,N324T,R426T,R67Q,S43F" "0,0,0,0,0,0,0,0" 9813 6739 sw9321;spmut164;dbsnp8829 ATAD5_HUMAN;NP_079133.3 "A326V,A625P,D140N,D990V,E135G,F1324L,F1402L,G1434A,I339T,K483E,K779N,L1030F,M454V,N1767S,N699H,P332L,P87S,Q426R,Q576P,R1162H,R1448C,R249K,R835C,S1355C,S1780L,T35S,T500I,T758I,Y1419H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79915 530 sw9322;dbsnp8506 TEFM_HUMAN;NP_078959.3 "I308L,I348V" "0,0" 79736 9421 sw9323;dbsnp29800 ACRC_HUMAN;NP_443189.1 "C48Y,C4Y,D170E,D206N,D211N,D661H,E13D,K218N,K218R,P14S,P466S,R471H,R664C,R686H,S28R,T429P,T662I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 93953 4156 sw9324 PRAM_HUMAN "F76V,Q73P" "0,0" 84106 3894 sw9325;dbsnp7880;hgmd0613_1879 VPS35_HUMAN;NP_060676.2 "A737V,D620N,E431K,E65G,G51S,I241M,K382R,L774M,M57I,P316S,R524W,R54W,T82R,V602D" "0,1,0,0,0,1,0,0,0,1,1,0,0,0" 55737 3242 sw9326;sws1035;dbsnp21892;dbsnp21893 ALPK1_HUMAN;NP_079420.3;NP_001095876.1 "A1160G,C818Y,D647E,D845H,E1101K,E910D,G565D,G681D,G870S,G940V,H1008P,H369L,H642R,K383E,K779R,L1117P,L320M,L441F,M523I,M732I,M861T,N175D,N916D,P293Q,P660L,P935L,Q67R,R1084Q,R1231H,R873I,R973C,S187R,S622F,S710F,T292M,T458A,V296M,V602I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80216 1299 sw9328;sws1036;dbsnp27742 KPSH2_HUMAN;NP_149117.1 "A176S,A325S,G211R,G72D,I336V,Q132H,Q132R,R114Q,R118C,R148Q,R158Q,R308H,R375K,R79K,S241G,S266R,T225A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85481 8054 sw9331;sws1038;dbsnp1810;dbsnp1811 1A1L1_HUMAN;NP_115981.1;NP_001120691.1 "A347P,C15S,D134E,D59N,E218K,E287K,P421L,R225C,R331H,R368Q,R370H,R489C,V288A,V459F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84680 5572 sw9332;dbsnp7321 XPO6_HUMAN;NP_055986.1 "F846S,H255Q,H751Q,R1019Q,T542M,V1029L" "0,0,0,0,0,0" 23214 1639 sw9333;spmut870;dbsnp22372 HHIP_HUMAN;NP_071920.1 "G236E,I156T,L178F,P405T,R635S,R674C,R674G,S224N,T449M,V341I,V404M,V669G" "0,0,0,0,0,0,0,0,0,0,0,0" 64399 4074 sw9334;dbsnp2694 PANX3_HUMAN;NP_443191.1 "A55T,E146K,G95R,H91R,K108R,K149T,R296W,R334P,T208A,V80M,Y226N" "0,0,0,0,0,0,0,0,0,0,0" 116337 8755 sw9335;dbsnp2161 OR5BC_HUMAN;NP_001004733.1 "A114E,A245S,A308T,C141R,C141S,C141Y,C177G,D87E,E173D,E20K,G304E,I197F,I44T,T55S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390191 10554 sw9336;dbsnp2122 OR5B2_HUMAN;NP_001005566.1 "A245E,F83L,K307N,L46Q,L53I,M200T,N292K,T192S,V208A,V248I,V302G" "0,0,0,0,0,0,0,0,0,0,0" 390190 10554 sw9337;dbsnp14122 OR2M2_HUMAN;NP_001004688.1 "A237T,C189Y,C235R,C235Y,H316Q,M228I,M273L,N19T,R220G,R293C,S87C,Y290C" "0,0,0,0,0,0,0,0,0,0,0,0" 391194 9740 sw9338;dbsnp23358 OR2V2_HUMAN;NP_996763.1 "A34V,D122N,H221R,I127V,I155M,L209P,L64F,R310K" "0,0,0,0,0,0,0,0" 285659 9213 sw9339;dbsnp26321 O2A14_HUMAN;NP_001001659.1 "R219C,S133I,S164R" "0,0,0" 135941 10436 sw933;dbsnp11584 LRP3_HUMAN;NP_002324.2 "C254Y,C770S,D697E,E760D,P213L,Q389E,R113H,R596H,S574P,V708A" "0,0,0,0,0,0,0,0,0,0" 4037 3441 sw9340;dbsnp26319 OR2A5_HUMAN;NP_036497.1 "A202S,A223G,A255T,E10D,E173K,F102S,F252S,I126V,M1I,R122W" "0,0,0,0,0,0,0,0,0,0" 393046 10436 sw9341;dbsnp2137 OR4CC_HUMAN;NP_001005270.1 "C177Y,D307G,D309E,E22G,I204L,R258C,T190I,V171I,V250M,V269L,V283L" "0,0,0,0,0,0,0,0,0,0,0" 283093 9203 sw9342;dbsnp12009 OR7D2_HUMAN;NP_787079.1 "E88K,L115P,M277L,T197M,V247I" "0,0,0,0,0" 162998 10316 sw9343;dbsnp1501 OR5MB_HUMAN;NP_001005245.1 "A118V,C140S,L287M,P282L,S171N,S2A,T38I,V280L" "0,0,0,0,0,0,0,0" 219487 10525 sw9344;dbsnp2109 OR8B4_HUMAN;NP_001005196.1 "C140F,C178R,D179E,E22G,I205N,Q185H,W240C,Y131H" "0,0,0,0,0,0,0,0" 283162 9775 sw9345;dbsnp1408 OR8B2_HUMAN;NP_001005468.1 "A255V,C112R,H20R,L164F,L27F,L287F,M39T,N94Y,R100W,R24W,S273F,S93T,T47I,V275L,V40A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26595 9775 sw9346;dbsnp3970 OR6C1_HUMAN;NP_001005182.1 "C130Y,H165D,L142F,L161F,M206T,R120H,R291K,S230G,S289R,S311R,T222I,V246I,V74I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 390321 10547 sw9347;dbsnp2357 O52B2_HUMAN;NP_001004052.1 "F105Y,H10R,I27L,R236Q,R268H,R302C,R308W,V150I,V70I" "0,0,0,0,0,0,0,0,0" 255725 10020 sw9348;dbsnp2124 O52E6_HUMAN;NP_001005167.1 "A238T,C242G,C64F,F170Y,F48L,H263Q,I159V,I39V,L217I,M199R,R124C,R174C,S95P,T77M,V111I,W133R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 390078 10530 sw9349;spmut1460;dbsnp1693 PANX1_HUMAN;NP_056183.2 "E390D,F116V,F72S,I272V,K155N,Q5H,R217C,R217H,T396M" "0,0,0,0,0,0,0,0,0" 24145 8018 sw934;sws105;spmut1283;dbsnp7918 MTG16_HUMAN;NP_005178.4 "A348T,A634V,E429G,F226L,H369Y,P78T,P95H,Q163R,R103P,R103Q,R326H,R370Q,R421C,R74Q,T98M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 863 4453 sw9350;sws1040;dbsnp13521 FCRL5_HUMAN;NP_112571.2 "H976R,P963L" "0,0" 83416 2120 sw9351;dbsnp24109 ZN300_HUMAN;NP_443092.1 "C203Y,G119S,L167V,P520R,Q336H,Q596H,R541Q,V346G" "0,0,0,0,0,0,0,0" 91975 4520 sw9352;dbsnp23362 SNX18_HUMAN;NP_443102.2 "E571D,K593T,R581S,S470C,T624I,Y141C" "0,0,0,0,0,0" 112574 4816 sw9354;spmut1466;dbsnp10981 PAR4_HUMAN;NP_003941.2 "A120T,A370V,F296L,F296V,M113V,P243L,P310L,R215Q,T39M" "0,0,0,0,0,0,0,0,0" 9002 8892 sw9355;dbsnp25072 TAAR6_HUMAN;NP_778237.1 "A228V,A72V,C186Y,C291Y,G165S,I231T,I37T,S89C,V265I,V326I,Y173C,Y173H,Y99C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 319100 9712 sw9356;dbsnp25099 TAAR9_HUMAN;NP_778227.3 "A266T,A278T,E174K,F215I,R130K,S335L,S335P,V214M" "0,0,0,0,0,0,0,0" 134860 9712 sw9357;dbsnp25032 TAAR1_HUMAN;NP_612200.1 "L42M,R23C,R23H,S49L,T252A,Y173H" "0,0,0,0,0,0" 134864 9929 sw9358;spmut2203;dbsnp17802 TR13C_HUMAN;NP_443177.1 "G64V,H159Y,P146S,P21R,R106Q" "0,0,0,0,0" 115650 13286 sw9359;sws1043;dbsnp12027;hgmd0613_1730 CIC_HUMAN;NP_055940.3 "A412V,A851V,G459S,G939A,L286Q,L986V,P1138L,P620S,P742S,P748H,P858S,P893S,R492W,S535F,S982G,T860A" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0" 23152 725 sw935;dbsnp21710 WDR1_HUMAN;NP_059830.1 "H248R,I185V,V265M,V268M,V415I,V61A" "0,0,0,0,0,0" 9948 5063 sw9361;spmut2326;dbsnp23402;dbsnp23403;dbsnp23404 UIMC1_HUMAN;NP_001186226.1;NP_057374.3;NP_001186227.1 "A242S,A586S,C511R,F376S,G596E,G704A,M353T,P435L,Q666P,R15W,R671H,S142Y,S380P,T603A,T60M,Y564H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51720 3884 sw9363;spmut1858;dbsnp24418;dbsnp24419;hgmd0613_2220 S26A8_HUMAN;NP_001180405.1;NP_443193.1 "A290S,D809N,E635K,E812K,E856G,E907K,H59Q,I148V,I498V,I639V,M936K,N542S,P618L,P912S,R68S,R71L,R816Q,R87Q,R880Q,S230N,V578A,V734M,V73M" "0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0" 116369 2238 sw9364;dbsnp26382 G3ST4_HUMAN;NP_078913.3 "A350V,A467V,F105S,G436A,G436D,G94R,P238R,R120C,R353Q,R353W,R358Q,R66W,S285Y,S344G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79690 6903 sw9365;dbsnp11050 KCNA7_HUMAN;NP_114092.2 "A180V,M418T,P187S,P189R,P442S,R310H,R337W,V330I" "0,0,0,0,0,0,0,0" 3743 4561 sw9368;dbsnp11434 OXLA_HUMAN;NP_690863.1 "A169T,A202V,A501S,M524V,N54S,N92D,R28H,R55W,T106M,V149M,V530M" "0,0,0,0,0,0,0,0,0,0,0" 259307 5287 sw936;dbsnp19241 FZD7_HUMAN;NP_003498.1 "A487V,G196E,G24D,G24S,S166L" "0,0,0,0,0" 8324 4620 sw9370;sws1045;dbsnp3538 KKCC2_HUMAN;NP_006540.3 "A567V,C123Y,I365M,N118K,R363C,R363G,R38W,R492H,S10N,T85S" "0,0,0,0,0,0,0,0,0,0" 10645 5301 sw9371;spmut2149;dbsnp27318 TGS1_HUMAN;NP_079107.6 "A108P,A153V,A59V,D150N,E581K,E63Q,E789K,F754C,G368A,G394R,I160V,I16T,I511T,I706V,K123E,L87V,N435T,P227T,P299S,Q221P,Q467R,R847Q,S115F,S265L,S85N,T407A,T407S,T595A,V515L,V576I,V672I,V693I,Y163C,Y587C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 96764 2878 sw9372;dbsnp27609 NUDC1_HUMAN;NP_116258.2 "A148T,E340D,I119V,I180T,I269V,I362T,L252F,N394H,N426S,R99Q,Y200C" "0,0,0,0,0,0,0,0,0,0,0" 84955 5369 sw9373;dbsnp23393 LAP2_HUMAN;NP_001240626.1 "G1089V,H1045Y,H806R,I119V,I41T,I621T,I88V,K1207E,K746E,K914R,L304V,M609T,N1035S,N1087S,N181S,N277T,P1091S,S1112L,S274L,T197M,T322I,T359R,T990S,V1326I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55914 957 sw9374;dbsnp10497 CTGE2_HUMAN;NP_758441.2 "E149D,I324V,I682M,I682V,T677I,V696M" "0,0,0,0,0,0" 64693 3150 sw9375 GCP6_HUMAN "A884V,I624M,L104P,L567S,S1364C,T1377A,V1232M,V1621L" "0,0,0,0,0,0,0,0" 85378 550 sw9376;dbsnp6955 GCP5_HUMAN;NP_443135.3 "A44T,E62K,E662D,G667S,G870R,H237R,I61K,Q231H,R428G,R776H,T475M,T974A,V258I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 114791 2005 sw9377;spmut710;dbsnp28479 FNBP1_HUMAN;NP_055848.1 "M429T,R293H,S490N" "0,0,0" 23048 4950 sw9379;sws1047;dbsnp27870 TRIB1_HUMAN;NP_079471.1 "E350K,E360A,E360D,R298C,S173R,T215M,V267I,V341I" "0,0,0,0,0,0,0,0" 10221 9168 sw937;dbsnp419 SLIT1_HUMAN;NP_003052.2 "A1238D,A451S,A82V,A853T,D1208N,G155R,N1016S,N700K,P824L,R1465Q,R1489Q,R687W,S427F,S541Y,S662F,T939P,V789M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6585 789 sw938 SLIT3_HUMAN "E994G,G618S,P1064A,R395Q,R810Q,V371A" "0,0,0,0,0,0" 6586 789 sw9380;dbsnp5911 PCX1_HUMAN;NP_055797.2 "A1068P,A258T,A458V,A594T,D100G,D235G,E438G,E466D,G1273C,G2189S,H2237R,H2312P,I1168T,I550N,L1435F,L1454W,L809I,L814I,N78T,R102G,R113S,R1261Q,R207Q,R673H,R706S,R782H,S162L,T1234M,T166I,T1876A,T2052N,T389M,T471S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22990 291 sw9382;dbsnp7542;hgmd0613_1705 IF140_HUMAN;NP_055529.2 "A1070V,A1422T,A451V,A686G,C525S,D165A,D603N,D640N,E1452K,E147D,G275R,G704S,H556R,I1248T,I446V,L1058S,L514H,L777R,M444T,P670L,P670S,Q1331H,R1128H,R1403Q,R1425Q,R1433C,R1440H,R253Q,R279P,R280Q,R280W,R60K,R621Q,R884Q,R982W,S1181L,S289R,S561N,V108M,V1292A,V398F,V398I,V398L,V611I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9742 882 sw9383;dbsnp7718 LMF1_HUMAN;NP_073610.2 "A431D,F279L,N147K,P562R,R364Q,S203P,V164A" "0,0,0,0,0,0,0" 64788 5588 sw9384;dbsnp7372 PRR25_HUMAN;NP_001013660.1 "A97V,E175K,L282F,P249L,P99L,T92S" "0,0,0,0,0,0" 388199 8545 sw9385 CP013_HUMAN L136P 0 84326 12865 sw9387;sws1048;dbsnp14134 KS6C1_HUMAN;NP_036556.2 "A208S,A261T,A407V,A546P,D483V,E256D,E96K,G490V,I901M,L204V,L853F,N575S,P319L,P424L,P42T,P561R,P824S,P824T,R22G,R285C,Y768C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26750 1837 sw9389;dbsnp16580 PRPK_HUMAN;NP_291028.3 "A25T,R123Q,T129A,T135I,T145A,Y106S" "0,0,0,0,0,0" 112858 11842 sw9390;sws1050;dbsnp9664 PIGS_HUMAN;NP_149975.1 "A19S,A344S,A462T,A490T,A494G,D340N,D460G,E149K,L204V,R185C,R185H,R219Q,R252W,R253H,S224T,V328M,V472I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94005 5769 sw9391;dbsnp20199 CSRN1_HUMAN;NP_149016.2 "A159S,A489G,A489V,A564T,L478F,P170T,R116C,R225W,R41C,T298A,V453I" "0,0,0,0,0,0,0,0,0,0,0" 64651 5284 sw9392;dbsnp12944 CLCC1_HUMAN;NP_001041675.1 "A332V,A494T,A534T,E507Q,G418D,I160L,I315T,M247K,M247T,P496A,R215C,R375Q,R375W,R377W,S368R,S519C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23155 5825 sw9393;dbsnp27422 PEBP4_HUMAN;NP_659399.2 "A138P,A222V,A88G,D122N,E104G,E211G,K125E,Q221P" "0,0,0,0,0,0,0,0" 157310 12388 sw9396;spmut2029;dbsnp25407 SRPK1_HUMAN;NP_003128.3 "A114S,F591C,I72T,K305N,K506R,R649Q,Y365C" "0,0,0,0,0,0,0" 6732 4532 sw9397;sws1053;dbsnp18241;dbsnp18242 SMC6_HUMAN;NP_001135758.1;NP_078900.1 "A691T,D1089E,D946H,I1046M,K928Q,R403Q,R464G" "0,0,0,0,0,0,0" 79677 1748 sw9399 ABHD1_HUMAN "D137E,P54Q,W371C" "0,0,0" 84696 8491 sw939;dbsnp13182 MEGF6_HUMAN;NP_001400.3 "A1483T,A313V,A749V,C410W,G1137A,G1536S,G239S,H1413Y,L688P,M115T,P180L,P45L,P482L,P587L,P898L,R1287H,R1364H,R224Q,R359H,R916L,S131G,S651W,T828I,V738M,W1392R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1953 784 sw9400;dbsnp11314 ZN347_HUMAN;NP_115973.2 "E657Q,K352R,K779E,M117V,N264D,P27L,P288T,R301C,R385H,R672G,R672Q,R721H,R756W,S221A,T501I,V440I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84671 2403 sw9401;dbsnp17501 TCPQM_HUMAN;NP_055221.1 "C206Y,D103N,D103Y,G469E,H252N,M232V,N475K,P256L,P344T,P527A,Q353K,R133Q,R56W,R91W,S149Y,S537Y,T138M,T258M,T70M,W320R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 150160 5733 sw9403 KCD15_HUMAN G64S 0 79047 2801 sw9404;dbsnp1950 TSN18_HUMAN;NP_570139.3 "G69S,M241V,R78H,T39I,V133I" "0,0,0,0,0" 90139 11947 sw9405;dbsnp26952 TM209_HUMAN;NP_116231.2 "H505R,P117Q,P469R,T182I,T378A,T93A" "0,0,0,0,0,0" 84928 5669 sw9406;dbsnp11032 ZN607_HUMAN;NP_116078.4 "A653P,C116R,C628G,C628R,E608K,F123L,K531R,L548P,R433H,R469G,R496H,R70H,S2A,S2F,S375T,S528T,S657N,S661N,T493A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84775 4111 sw9407;dbsnp11682 FIZ1_HUMAN;NP_116225.2 "G410D,T391A,V302L" "0,0,0" 84922 6727 sw9408;dbsnp26786;dbsnp26787 ORAI2_HUMAN;NP_116220.1;NP_001119812.1 "A15P,G20S,P17S" "0,0,0" 80228 10990 sw9409;dbsnp28798 CK5P2_HUMAN;NP_060719.4 "A1577V,A183P,A235T,A307S,A860E,A920V,C19R,E289Q,E517V,F885L,G138S,H1175Y,I1227F,I1818M,I968V,L1542F,L1718V,L868V,N1229S,N1330I,N603I,P1012A,P1651S,Q1205H,Q1392R,R1045T,R1408G,R1607S,R1868W,R80L,R953H,S1578L,T360I,T878M,T980I,V12L,V1540L,V1709A,Y1734C,Y668C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55755 494 sw940;dbsnp1970;hgmd0613_918 LRP4_HUMAN;NP_002325.2 "A1203V,A1238T,C1017R,C160Y,D137N,D449N,D529N,G333R,H596R,I1086V,I1603V,I1728V,K680Q,L1722H,L314S,L473F,M1786K,N1022D,N1207S,N501H,P1251L,Q1611K,Q377R,R1136Q,R1170W,R1425Q,R1538W,R1646L,R1646Q,R263H,R373W,R457C,R610C,R611H,R86H,S1315L,S1460F,S1554G,S1853N,S1887C,T410I,T461P,W1186S,Y1792H" "0,0,1,1,1,1,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0" 4038 484 sw9410;dbsnp19481 ATOH8_HUMAN;NP_116216.2 "A312T,L150P,P183A,R162H,S267C,S267T,T42A,Y40C" "0,0,0,0,0,0,0,0" 84913 10371 sw9411;dbsnp11532 CP2S1_HUMAN;NP_085125.1 "A360V,D354N,G397C,L189F,P466L,R101Q,R166H,T471P,V104I,V67L" "0,0,0,0,0,0,0,0,0,0" 29785 6585 sw9412;dbsnp11527 ZN382_HUMAN;NP_116214.2 "C217G,C217S,E168G,G246E,M1V,T231A,T547M" "0,0,0,0,0,0,0" 84911 4963 sw9413;dbsnp18663 IWS1_HUMAN;NP_060439.2 "A390V,D41N,E240G,E86G,G550S,I798T,S377R,T721A,V425I" "0,0,0,0,0,0,0,0,0" 55677 3095 sw9414;dbsnp6857;dbsnp6858;dbsnp6859 SIN3A_HUMAN;NP_056292.1;NP_001138829.1;NP_001138830.1 "I288V,K2N,M1156L,P279L" "0,0,0,0" 25942 1220 sw9415;dbsnp10978 CEP89_HUMAN;NP_116205.3 "A372T,A533T,A707V,E499D,H779L,L554S,P218A,Q272R,R102Q,R146Q,R194W,R494C,R494H,R64Q,R691W,S153G,S643G,V398A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84902 3330 sw9416;dbsnp305 AEDO_HUMAN;NP_116193.2 "G25W,P266S,P39A" "0,0,0" 84890 11485 sw9417;sws1055;dbsnp30266 MA7D2_HUMAN;NP_689993.2 "E136K,E358D,E406K,F271L,K286R,M171T,M45T,N182S,P157L,R222Q,T296I" "0,0,0,0,0,0,0,0,0,0,0" 256714 3430 sw9419;dbsnp2297 RSF1_HUMAN;NP_057662.3 "A1082G,A507T,D1190E,D282G,E304D,E644K,I154V,I351V,I606M,K1234T,L205V,M1156V,P228S,P694S,P712S,Q420L,R1163Q,S475A,S475P,S543F,S704R,Y1253H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51773 916 sw941;dbsnp9641 AOC2_HUMAN;NP_033720.2 "A657D,A82T,D380G,D740N,E183D,E427D,E685K,H49Q,I5V,L137V,L729F,N198D,P141L,R273Q,R69C,T692I,Y22C,Y355C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 314 3495 sw9420;sws1056;dbsnp23525 RUFY1_HUMAN;NP_079434.3 "C351F,H298Q,L522M,R510Q,S705A,V384I" "0,0,0,0,0,0" 80230 4001 sw9421;spmut1191;dbsnp27768 MBOA4_HUMAN;NP_001094386.1 "A162T,A352S,A55T,A70T,C138W,E139K,F346S,F35S,F416L,F7S,G178S,G231E,G231V,G276C,G283R,L108Q,L108R,L29I,L424F,N435T,P112S,P417S,Q211R,Q329R,Q387R,R189H,R208S,R315Q,R316Q,R379I,R38H,S154C,T46A,V349G,V53M,V61M,W5R,Y15F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 619373 7863 sw9422;dbsnp24858 KCNKH_HUMAN;NP_113648.2 "A89T,D50Y,H324D,L319P,M253L,R100C,R296Q,S21G,V222M,Y308C" "0,0,0,0,0,0,0,0,0,0" 89822 10095 sw9423;dbsnp25216 KCNKG_HUMAN;NP_115491.1 "A275G,A39G,A39V,D159A,D299H,F215L,G146R,G85S,I208L,L172V,L49M,P301H,R160H,R163C,V137M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83795 10361 sw9424;sws1057;dbsnp13142 MINT_HUMAN;NP_055816.2 "A1779T,A185T,A2510V,A2800T,A3222P,A3327V,A970V,D1363E,D1786A,D2007E,D303G,E1517V,G2022S,G2157V,G2294R,G3464A,G553S,K1609N,L1091P,L1091V,L3058V,L808V,N1856S,N2360D,N2593S,P1007T,P1296A,P1728L,P2158L,P2240L,P2984S,P3456L,R1143C,R1475Q,R1959G,R733C,R807P,R810Q,R824C,S1189P,S2139T,S2426F,S2553G,S260N,S3207C,S3223R,T2983M,V1022M,V1637A,V2023M,V2690M,V2704M,V3569G,Y184C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23013 93 sw9425;dbsnp9573 CDRTF_HUMAN;NP_001007531.1 "A100T,A103V,C5S,L147P,L162I,P91S,R24Q" "0,0,0,0,0,0,0" 146822 11262 sw9427;dbsnp4996 SETB2_HUMAN;NP_114121.2 "E117G,G416R,I425T,K408I,K534E,Q537K,R526Q,V473M" "0,0,0,0,0,0,0,0" 83852 3885 sw9428;dbsnp345 MMS19_HUMAN;NP_071757.4 "A558V,A68G,D355E,E859D,G1029D,G235D,G790D,K441R,L553P,L827F,M365V,N688S,P682S,Q409P,Q434E,R306H,R334H,R551W,R865H,R983H,R98W,V197I,V526I,Y618C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64210 1983 sw9429;spmut2325;dbsnp12047 UHRF1_HUMAN;NP_001041666.1 "A638T,D240H,E379K,L713F,R685K,T642M,V137A,V196M" "0,0,0,0,0,0,0,0" 29128 3170 sw942;dbsnp479;hgmd0613_1569 LDB3_HUMAN;NP_009009.1 "A371T,A532P,A698T,D673N,I345M,P101L,P324S,Q512P,R487H,S189L,S349T,T206I,T351A,V118M,V55I,V635I" "0,0,0,1,1,0,0,0,0,1,0,1,1,0,0,0" 11155 3768 sw9430;dbsnp6820 RMD3_HUMAN;NP_060615.1 "Q33H,R250S,V376G" "0,0,0" 55177 7203 sw9433 MUC4_HUMAN "G37D,S585A,T161A" "0,0,0" 4585 20 sw9437;dbsnp3442;dbsnp3444 NELL2_HUMAN;NP_001138580.1;NP_006150.1 "I467M,K149R,M777T,N232S,N347D,P512L,P595L,P631L,R122W,R130C,R257Q,R452C,R723S,S371N,V125I,V5I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4753 2794 sw9438;dbsnp28348 PSB7_HUMAN;NP_002790.1 "D17H,D17Y,S222N,V39A" "0,0,0,0" 5695 11327 sw9439;dbsnp21772 CD006_HUMAN;NP_005741.1 "A71V,E65D,G56E,I43T,N15K,Q6E" "0,0,0,0,0,0" 10141 14733 sw944 ZN623_HUMAN N126D 0 9831 6040 sw9440;dbsnp27644 GML_HUMAN;NP_002057.1 "C34W,M10T,N97D,R46T,R54C" "0,0,0,0,0" 2765 13767 sw9443;dbsnp29609 NP1L3_HUMAN;NP_004529.2 "D44G,K309R,K331N,P224A,S341L,S64G,T158A,T181I,Y493C" "0,0,0,0,0,0,0,0,0" 4675 6549 sw9444;spmut314;dbsnp25098 CDC5L_HUMAN;NP_001244.1 "A457T,L720F,P439L,P591R,S332F,T117A,Y459C" "0,0,0,0,0,0,0" 988 3196 sw9445;dbsnp24339 NOTC4_HUMAN;NP_004548.3 "A1115D,A1314V,A1439T,A610G,A610V,C1191R,C815G,C945Y,D1695N,D272G,D404V,D680N,D970N,E317Q,E513D,F64I,G1200E,G1213R,G1371S,G1872R,G247R,G487R,G534S,G564R,G583E,G835V,G942R,K117Q,K851R,M1930I,P1049L,P1068S,P1357L,P204L,P206L,P919L,Q284H,Q587R,Q63H,Q763H,R1113H,R132H,R1346P,R230H,R234Q,R373W,R585C,R937S,S100N,S1165P,S244L,S809I,S925R,T320A,T320S,T725I,T768A,V342M,V600I,V600L,V681M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4855 423 sw9446;dbsnp23191 CD180_HUMAN;NP_005573.2 "D259N,F648L,G545V,I223V,L271P,L328V,M267T,N406S,N53K,P578L,R472Q,S413N,S99R,T430A,T487M,T489A,V20L,V356M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4064 4469 sw9447;dbsnp20756 STAC_HUMAN;NP_003140.1 "C358Y,D13A,G14E,I274V,M69R,N262S,P103L,P25L,R168Q,R212T,R53Q,T313I,Y294H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6769 8546 sw9448;dbsnp9410 SDF2_HUMAN;NP_008854.2 "A15T,A180V,F108L,G100A,G100D,M191T,P111L" "0,0,0,0,0,0,0" 6388 12519 sw9450;sws1060 AGAP2_HUMAN "A651V,E767V,G1124V,G507S,N939D,R518G,S1022P,T568I,V455A,V947M" "1,1,0,0,1,1,1,1,1,1" 116986 1439 sw9452;dbsnp29108;hgmd0613_1335 S1PR3_HUMAN;NP_005217.2 "I265T,P7L,R153H,R243Q,R307W,R321L,R321P,R321Q,R8H,T167M" "0,0,0,0,0,0,0,0,0,0" 1903 8935 sw9457;spmut2002;dbsnp13579 SORT_HUMAN;NP_002950.3 "D358Y,E444Q,E447G,I124V,K302E,N357S,P15S,R193H,S424F,S574A,S746N,T371I,T438M,T561M,V650M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6272 3027 sw9458;dbsnp26551;dbsnp26552;dbsnp26553 GPER_HUMAN;NP_001091671.1;NP_001496.1;NP_001035055.1 "A104G,A195T,A244V,D368E,P16L,R299H,S373R,S5F,V10M" "0,0,0,0,0,0,0,0,0" 2852 9096 sw9459;spmut1110;dbsnp5639;dbsnp5640 LGMN_HUMAN;NP_005597.3;NP_001008530.1 "D72N,H404R,K273Q,N211T,P417L,R350C,S395C,T332M,V18I,V294I,V409I,V67I" "0,0,0,0,0,0,0,0,0,0,0,0" 5641 7893 sw945;dbsnp26526;hgmd0613_1759 PTCD1_HUMAN;NP_056360.2 "A209T,A428T,A44V,A696T,D336Y,E220K,G538E,G694R,I468T,L18P,P15H,P356L,P412S,P434L,P435A,Q22R,R103C,R113L,R113W,R117W,R132Q,R168Q,R235W,R301W,S505F,T457M,V620G,Y605C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0" 26024 3622 sw9460;dbsnp28797 PLIN2_HUMAN;NP_001113.2 "A111T,G165R,L281F,L72V,N359D,N359S,P10L,P10Q,R167W,R93K,S251P,T146I,T324M,V286I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 123 7824 sw9461;spmut1252;dbsnp3476 MMP19_HUMAN;NP_002420.1 "F158L,F158S,G399R,G484R,H189Y,P245S,P488T,P83L,R103C,R126Q,R161C,R19Q,R456Q,S164L,T143N,T480I,T480N,T491M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4327 6512 sw9462;dbsnp7583 MPH6_HUMAN;NP_005783.2 "D134G,E85Q,I125V,I58V,R8K" "0,0,0,0,0" 10200 13719 sw9463;dbsnp3563 MPP9_HUMAN;NP_073619.2 "A141S,A280V,A926D,G125S,H647R,I142M,M29L,N852K,Q541R,R1010Q,R10I,R529H,S534N,S8R,T200I,T295A,V327I,V661M,Y935H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10198 1978 sw9464;spmut1282;dbsnp26530 MTERF_HUMAN;NP_008911.1 "A231T,A294T,G304V,I332V,P242A,R251Q,S185L,T65I" "0,0,0,0,0,0,0,0" 7978 8603 sw9465;sws1061;spmut1152;dbsnp9449 M3K14_HUMAN;NP_003945.2 "G17V,H674Y,P928H,S140N,T255M,T706A,T764A" "0,0,0,0,0,0,0" 9020 2357 sw9466;dbsnp8863 NUP88_HUMAN;NP_002523.2 "A619S,D431Y,D581G,G65S,K680N,K695E,K695M,N289S,N733S,P473L,P493L,T497I,T525I,V60A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 4927 3688 sw9467;sws1062;dbsnp21094 PI3R4_HUMAN;NP_055417.1 "A471S,D393N,E367K,F273L,G1043V,H1055L,I1035L,I1035V,L699V,M1025L,M1192V,R342H,R347W,S1313T,T388I,V448I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 30849 1054 sw9468;dbsnp3295 P2RX4_HUMAN;NP_002551.2 "A6S,G240E,K298T,L22F,M109K,R231H,S242G,V150I,V161A,V288I,V71M,Y292H,Y315C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5025 8510 sw946;dbsnp26211 COBL_HUMAN;NP_056013.2 "A1015P,A1043V,A564T,A628V,A655P,D577A,D721N,D927N,E480D,G534S,H1160Y,H601Y,H919Q,K880E,N160H,N774H,P147L,P526L,P792L,P811L,P813L,R1158H,R333Q,R353G,R53H,R875H,R951S,S1033G,S513F,T627M,T800M,V293M,V417I,V607I,Y891C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23242 1248 sw9471;sws1064;dbsnp27565;dbsnp27566;dbsnp27567;hgmd0613_1722 POP1_HUMAN;NP_055844.2;NP_001139332.1;NP_001139333.1 "A163T,A163V,A4T,E460A,G25D,G583E,G86R,I447V,K522N,K810E,K910R,L524F,L994V,N658D,P318L,Q47R,Q74R,R137Q,R241Q,R830W,S127L,S267F,S65C,S65F,S780L,T189M" "0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10940 2006 sw9472;dbsnp9198 MNT_HUMAN;NP_064706.1 "A109T,A348V,A533T,G218R,G559A,K365T,L296M" "0,0,0,0,0,0,0" 4335 5381 sw9473;dbsnp4015 SCAFB_HUMAN;NP_004710.2 "A1321T,D623G,D870Y,F657Y,G350S,G520D,I584M,K1347E,L668P,M316V,N1011D,N1328D,N548D,N685T,P1269S,P787R,P814R,R843Q,R847H,S1058Y,T780P,V1261L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9169 878 sw9474;dbsnp14514 ZN238_HUMAN;NP_006343.2 "A404T,E132G,T206S" "0,0,0" 10472 6121 sw9476;dbsnp25405 TEAD3_HUMAN;NP_003205.2 "S156P,T254M" "0,0" 7005 7580 sw9477;dbsnp12818 TI17A_HUMAN;NP_006326.1 "V113I,V14M" "0,0" 10440 13528 sw9478;dbsnp6980 NECD_HUMAN;NP_002478.1 "F121S,I216M,P88L,R137S,S317G,V318A" "0,0,0,0,0,0" 4692 10372 sw9479;dbsnp7488 SPS2_HUMAN;NP_036380.2 P269A 0 22928 7630 sw947;sws107 ASTN2_HUMAN V70I 0 23245 1083 sw9480;dbsnp9112 CCL13_HUMAN;NP_005399.1 "A5S,K80M,M13I,N29S" "0,0,0,0" 6357 14658 sw9481 CDX2_HUMAN P293S 0 1045 10583 sw9483;spmut1580;dbsnp7690 PMYT1_HUMAN;NP_004194.3 "A373V,E103Q,E257D,E351K,P417R,R140C,R151Q,R246H,R448W,R457W,R477G,R477Q,R477W,R486Q,R85W,S429I,V445A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9088 6692 sw9484;dbsnp3542 EPYC_HUMAN;NP_004941.2 "A309E,D185H,D235N,E47A,E83G,H274Q,I49V,L213S,L284F,N267K,R151C,R199S,S150C,T277M,T277R,V322L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1833 10348 sw9486;dbsnp14139 KIF2C_HUMAN;NP_006836.2 "A136P,A683V,E626V,I446T,I449L,I88V,M1K,R698P,R698Q,T639S" "0,0,0,0,0,0,0,0,0,0" 11004 3830 sw9488 CGRE1_HUMAN A212V 0 10669 10457 sw9489;dbsnp5884 CGRF1_HUMAN;NP_006559.1 "C117Y,R185W,S103N,T331I,V194M" "0,0,0,0,0" 10668 10096 sw948;dbsnp27563 CPNE3_HUMAN;NP_003900.1 "A381V,D20A,D470G,D83N,E252D,I400V,P367Q,R383Q,R406K,T129M,T209A,T412M,V212M,V404M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8895 5873 sw9490;dbsnp24633 ZN184_HUMAN;NP_009080.2 "A22V,A27S,E106Q,H430Q,N214D,R681W,T650I" "0,0,0,0,0,0,0" 7738 2800 sw9491;spmut794;dbsnp27811 GPR20_HUMAN;NP_005284.2 "G313S,G334S,H230R,L285F,P268H,R260C,R337H,R81C,R81H,T108M" "0,0,0,0,0,0,0,0,0,0" 2843 9476 sw9492;spmut1154;dbsnp25129 M3K5_HUMAN;NP_005914.1 "D1315N,F16L,G1006R,I1214T,I1250V,I708V,K950N,L113R,Q531H,S952P,T1314I,T407M" "0,0,0,0,0,0,0,0,0,0,0,0" 4217 1026 sw9494;spmut693;dbsnp1474 FEZ1_HUMAN;NP_005094.1 "D123E,E358Q" "0,0" 9638 8756 sw9497;dbsnp3348 ATX2_HUMAN;NP_002964.3 "A727T,E813G,L107V,M986V,N491S,P1108S,P742A,P954S,R755G,S248N,T955P,V1233I,V545I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6311 1141 sw9499 KI2L4_HUMAN "D271N,N371H,V87L" "0,0,0" 3805 7486 sw949;dbsnp17407 ZBED4_HUMAN;NP_055653.2 "A425V,A59P,D14E,E382V,G510R,G55S,G62S,I420V,M1150T,M947L,P349R,P379L,P625L,R110Q,R584Q,R935H,V241I,V411M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9889 1503 sw94;dbsnp13071 RGSL_HUMAN;NP_001131141.1 "D23N,D754E,E5D,I591V,I670S,I683V,I799F,K354N,K362R,K588Q,M711I,N153S,R218H,R245Q,R425H,R726H,R865H,R905W,S852N,S987F,W256C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 353299 1792 sw9501;spmut399;dbsnp10566;dbsnp10567 COM1_HUMAN;NP_002885.1;NP_976036.1 "C485R,D871E,E281D,E716K,H387Y,H456R,K291E,K357N,P246A,R110Q,R589H,R839Q,T675I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5932 2628 sw9502;sws1066;dbsnp16989;dbsnp16990;dbsnp16991 IRK15_HUMAN;NP_002234.2;NP_733932.1;NP_733933.1 "E99D,G98C,G98D,I6V,M30L,T105N" "0,0,0,0,0,0" 3772 8994 sw9504;dbsnp24323 COCA1_HUMAN;NP_004361.3 "A461P,D1139G,D1315N,E2160V,G2283E,G3058S,I1738T,I2596V,I402N,K1445R,N1538S,Q3048H,R1742H,R2021Q,R3028H,T1469P,T1770A,T2197I,V2143L,V2480M,V2746A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1303 140 sw9505 SGMR1_HUMAN "Q2P,R211Q" "0,0" 10280 12469 sw9509;dbsnp8575;hgmd0613_748 CDC6_HUMAN;NP_001245.1 "D295N,R378H,T238A,T299M,T323R,V147L,V280A,V441I" "0,0,0,0,1,0,0,0" 990 5686 sw9510;dbsnp18565 NPAS2_HUMAN;NP_002509.2 "A690T,A720T,G54A,H406D,P822L,R357Q,S471L,S616N,T211A,T394A" "0,0,0,0,0,0,0,0,0,0" 4862 2920 sw9511;dbsnp10401 SNAG_HUMAN;NP_003817.1 "K281N,P92S" "0,0" 8774 10617 sw9512;dbsnp12454;hgmd0613_1230 NRTN_HUMAN;NP_004549.1 "A59T,A96S,R3C,R53L,R97G" "0,0,0,0,0" 4902 13033 sw9514;dbsnp9622 M3K3_HUMAN;NP_002392.2 A435G 0 4215 4514 sw9515;dbsnp5670 ATP5S_HUMAN;NP_001003803.1 "A104V,D109N,L197I,M17K,P18L,R72C" "0,0,0,0,0,0" 27109 12639 sw9516;dbsnp6781 APBA2_HUMAN;NP_005494.2 "A137V,A57V,A632T,D555E,G12S,L311P,M475V,P168L,P22T,R211H,R52Q,S144L,S55N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 321 2984 sw9517;dbsnp13576 GPA33_HUMAN;NP_005805.1 "D20N,K165N,P284L,P314L,R229S,R307K,T161N,T203I,V119F,V139M,V19I" "0,0,0,0,0,0,0,0,0,0,0" 10223 10415 sw9518 MIPEP_HUMAN "A137V,R340Q,R453H,S488G" "0,0,0,0" 4285 3940 sw9519;sws1070;dbsnp17446;hgmd0613_651 ACON_HUMAN;NP_001089.1 "A768S,A768T,E760K,G240A,G553R,I655F,L74V,S112R,T761M" "0,0,0,0,0,0,0,1,0" 50 3363 sw951;dbsnp17086 ICOSL_HUMAN;NP_056074.1 "E238K,H112L,R79H,T159P,V128I" "0,0,0,0,0" 23308 10810 sw9521;dbsnp7857 COQ7_HUMAN;NP_057222.2 "E162K,G80W,H182R,R65C,T103M,V79I,W115R" "0,0,0,0,0,0,0" 10229 12590 sw9522;sws1071;spmut1859;dbsnp25478;dbsnp25479;dbsnp25480;dbsnp25481;dbsnp25482 S29A1_HUMAN;NP_001071645.1;NP_001071644.1;NP_001071643.1;NP_004946.1;NP_001071642.1 "A430T,A62P,E391K,E391Q,I147T,I216T,N81S,Q61E" "0,0,0,0,0,0,0,0" 2030 7468 sw9524;spmut2232;dbsnp1775 TS101_HUMAN;NP_006283.1 "M167I,N27S,R374G" "0,0,0" 7251 8799 sw9525;spmut365;dbsnp6803 CIB1_HUMAN;NP_006375.2 "I106T,S44T,T103M" "0,0,0" 10519 13152 sw9526;dbsnp16533;dbsnp16534;dbsnp16536;dbsnp16537 CPNE1_HUMAN;NP_690902.1;NP_690903.1;NP_690904.1;NP_690905.1 "A406T,E98G,G517V,I81V,L62R,N137S,N314S,P347R,P347S,P520R,P535L,Q211R,R262C,R384H,R46L,R471C,R487C,R67H,T206I,T260A,V31I,V31L,V345F,Y386C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8904 5873 sw9527;dbsnp19863 TCPH_HUMAN;NP_006420.1 "G377S,R53K,T259A" "0,0,0" 10574 5947 sw9528;sws1072;dbsnp26761 SMO_HUMAN;NP_005622.1 "A235V,D25G,D473H,E578K,I279T,P641A,P647S,P743T,R144H,R168H,R173C,R173H,R772C,S590T,V270I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6608 3306 sw952;dbsnp11458 LIPA3_HUMAN;NP_003651.1 "A563S,P793T" "0,0" 8541 1431 sw9530;dbsnp12870 EBP2_HUMAN;NP_006815.2 "A160S,N290I,P76R,R223C,R223H,R242W" "0,0,0,0,0,0" 10969 9401 sw9531;spmut133;dbsnp11084 ARI3A_HUMAN;NP_005215.1 "A171T,A404V,E152K,G556S,G79S,K320E,P36H,R412C,R494Q,R564Q" "0,0,0,0,0,0,0,0,0,0" 1820 5228 sw9532;spmut99 ANM1_HUMAN "K78M,L158F" "0,0" 3276 8709 sw9533;dbsnp24311 H2B1L_HUMAN;NP_003510.1 "K13R,L4P" "0,0" 8340 14189 sw9534;dbsnp23176 SC6A7_HUMAN;NP_055043.2 "G338S,L183F,L345V,M514L,Q205P,R475G,R475W,R481K,R530H,R574W,R587W,T469M,T69N" "0,0,0,0,0,0,0,0,0,0,0,0,0" 6534 4733 sw9536;dbsnp6550 GBRG3_HUMAN;NP_150092.2 "T352A,V47M" "0,0" 2567 7264 sw9537 SPAG8_HUMAN A69T 0 26206 6652 sw9538;dbsnp25219;dbsnp25220 PLCA_HUMAN;NP_006402.1;NP_116130.2 P30S 0 10554 11224 sw9539;dbsnp24662 EGFL8_HUMAN;NP_085155.1 "A204E,D146G,G12S,G277C,P191L,Q41R,R202G,R202W,R224L,R261G,R86K" "0,0,0,0,0,0,0,0,0,0,0" 80864 11023 sw953;spmut878;dbsnp3725 HIP1R_HUMAN;NP_003950.1 "A1023V,A243V,A382T,A531V,A676T,A811T,A911T,C938F,D124E,D512N,D773Y,E369K,E619K,I373S,I381V,K404Q,K516Q,N943S,P1048S,R212H,R252W,R413L,R601W,V499M,V782M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9026 1825 sw9540;dbsnp18676 PTN18_HUMAN;NP_055184.2 "A328P,G400W,G422R,H302D,M193V,M210I,R198H,R271Q,R331H,S37L,V211L,V49M,V95M,Y426C,Y62C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26469 7404 sw9541;dbsnp22135 SMR3A_HUMAN;NP_036522.3 "C42R,G28R,P132L,P64S" "0,0,0,0" 26952 14183 sw9544;dbsnp27961 ADAM2_HUMAN;NP_001455.3 "A202T,A637V,D520G,D591V,E128Q,E357K,F380I,G10W,G12S,G347D,G401R,I51L,K683N,L479P,M587I,P262S,R15W,R34W,R674H,S352I,T212M,T281S,Y639C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 2515 3743 sw9545;spmut369;dbsnp29839;dbsnp29841;dbsnp29842 CITE1_HUMAN;NP_001138359.1;NP_001138358.1;NP_004134.2 "G119R,H96Q,I147V,S65L,T186I" "0,0,0,0,0" 4435 12565 sw9547;dbsnp5465 TEP1_HUMAN;NP_009041.2 "A184T,A1934S,A1948V,A2256T,A2310S,A359T,A370S,A553G,A929V,A966T,C1468Y,C1638R,C2067Y,C692Y,D1269G,E1253G,E2368K,E374K,E948K,F1561V,F1808L,G1091R,G1304R,G1408R,G1780R,G1965S,G2080A,G427D,H1432Y,H239R,H2562R,H321Y,H932Q,H993R,I2322M,I2486M,K1955R,K368R,K434N,L1196F,L1542P,L2487P,L2624P,L469P,M262T,N307K,P1141L,P1159H,P1442L,P522S,R1015W,R1055C,R1073H,R1086W,R1155Q,R1237Q,R1340Q,R1351Q,R1366C,R1386W,R1555C,R1555G,R1555H,R1579W,R1622Q,R1646W,R1661Q,R1772Q,R1919C,R2044W,R2058W,R2263W,R323Q,R386Q,R500W,R541C,R608Q,R933H,S106F,S116P,S1195P,S1436N,S1447T,S195T,S2149N,S510L,S876P,T137M,T2468A,T2514I,V1675A,V2214I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7011 205 sw9548;dbsnp29106 OMD_HUMAN;NP_005005.1 "C353W,D200G,E212G,G2V,H358R,I282T,K84N,P257L,R46H,S221N,T368A,V136M" "0,0,0,0,0,0,0,0,0,0,0,0" 4958 8135 sw9549;dbsnp26107 SEM3C_HUMAN;NP_006370.1 "A645G,D672G,F302S,I601V,L9F,P230S,R453Q,T588A,V10F,V321A,V337M" "0,0,0,0,0,0,0,0,0,0,0" 10512 3603 sw9550;dbsnp11116 GDF15_HUMAN;NP_004855.2 "A117D,A117T,A271E,H202D,L101V,S134W,S44T,S48T,T90M,V9L" "0,0,0,0,0,0,0,0,0,0" 9518 10691 sw9551;dbsnp29849 VGLL1_HUMAN;NP_057351.1 "A99T,R126Q,R219H,T59I" "0,0,0,0" 51442 11748 sw9553;dbsnp17511 G3ST1_HUMAN;NP_004852.1 "A65T,E10K,E237K,E71D,G190S,I344V,R168H,R244G,R329H,R335H,R340L,R76H,V29M,V34M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9514 8085 sw9554;dbsnp11104;hgmd0613_2114 B9D2_HUMAN;NP_085055.2 "I11M,R125Q,S101R" "0,0,1" 80776 13457 sw9555;dbsnp20205 P2Y13_HUMAN;NP_795713.2 "A113D,A298T,A338S,A4T,R290G,T179M" "0,0,0,0,0,0" 53829 9561 sw9556;dbsnp17291 APOL4_HUMAN;NP_663693.1 "A244G,A319E,E322K,I9V,M159V,M1K,R223H,R259C,R278H,R290Q,S326L,V12L" "0,0,0,0,0,0,0,0,0,0,0,0" 80832 8539 sw9557;hgmd0613_1089 NIPS1_HUMAN E245K 0 8508 11181 sw9558;dbsnp19012;dbsnp19013;dbsnp19014;dbsnp19015 DHRS9_HUMAN;NP_001135742.1;NP_001135743.1;NP_005762.2;NP_954674.1 "D286H,E312A,I27T,R18H,R78C,R92S,S274N,Y130C,Y256C" "0,0,0,0,0,0,0,0,0" 10170 10416 sw9559;dbsnp11750 DHB14_HUMAN;NP_057330.2 "A56T,D62G,D62Y,G16W,I77V,N31D,R130W,R27C" "0,0,0,0,0,0,0,0" 51171 11486 sw955;spmut1527;dbsnp28955 PHF2_HUMAN;NP_005383.3 "A628T,D808N,I47T,K671T,P480L,P73L,R749H,S1058L,S725L,S840N,T56P,V449I,V462M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 5253 1726 sw9560;sws1076;dbsnp22035 CND3_HUMAN;NP_071741.2 "A64P,A687V,A994T,E682K,E772G,E858K,K526T,K937E,M248I,M248L,M581I,P379L,T851A,T957I,V180A,Y391C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64151 2046 sw9561;dbsnp27121 CG025_HUMAN;NP_076959.2 "D243N,G265E" "0,0" 79020 7033 sw9562;dbsnp2105 RBM4B_HUMAN;NP_113680.1 "A281T,A358S,D112G,E93V,G321S,R225Q,Y229H" "0,0,0,0,0,0,0" 83759 9330 sw9563;dbsnp20870 RETNB_HUMAN;NP_115968.1 "L89M,P20L,S5F,V30I" "0,0,0,0" 84666 14525 sw9564;dbsnp22188 TICN3_HUMAN;NP_058646.2 "A25V,D431E,H182L,I112V,I408T,I436N,R115W" "0,0,0,0,0,0,0" 50859 7793 sw9565;dbsnp18765 KCNS3_HUMAN;NP_002243.3 "A188T,A382V,H48R,I189V,M448I,R163Q,R447W,R9C,R9H,T450A,V225L,V239I,Y121C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 3790 6824 sw9567;dbsnp28888 PD1L2_HUMAN;NP_079515.2 "F229S,I241T,M7T,Q79E,S178R,S58T,V160I" "0,0,0,0,0,0,0" 80380 11415 sw956;dbsnp14398 ZC11A_HUMAN;NP_055642.3 "A539T,C636S,E779A,G628E,K441R,L182V,M466V,P341L,R373H,R507W,S630L,T185A,T463I,T640N,V138I,V651M,V702A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9877 3143 sw957 K0664_HUMAN A633V 0 23277 1150 sw9570;dbsnp11455 GRWD1_HUMAN;NP_113673.3 "A195V,H148R,H75R,P345Q,R225W,R319Q,V146M,V168L,V226M,V353M" "0,0,0,0,0,0,0,0,0,0" 83743 7657 sw9571;dbsnp20820 CC026_HUMAN;NP_115735.2 "E138G,E256K,E86Q,N126S,R107C,S267R,V166I" "0,0,0,0,0,0,0" 84319 11294 sw9572;dbsnp16417;dbsnp16418;dbsnp16419 F110A_HUMAN;NP_113612.1;NP_001035812.1;NP_997004.1 "A133P,A200V,A227V,C248F,E44D,L284I" "0,0,0,0,0,0" 83541 10982 sw9573;dbsnp11456 ECSIT_HUMAN;NP_057665.2 "A87V,C299R,E408K,G406R,P259T,R102C,R278C,R315M,V337M" "0,0,0,0,0,0,0,0,0" 51295 7931 sw9574;dbsnp15536 MEP50_HUMAN;NP_077007.1 "L332F,S238F,S48I" "0,0,0" 79084 9856 sw9575;spmut875;dbsnp1348;dbsnp1349 HINFP_HUMAN;NP_056332.2;NP_945322.1 "A493V,D57N,G450E,G474D,K352R,L40M,N468S,N471S,P4S,S78C" "0,0,0,0,0,0,0,0,0,0" 25988 6365 sw9576;dbsnp9596;hgmd0613_2111 SOST_HUMAN;NP_079513.1 "C167R,V10I,V21L,V21M" "1,0,1,1" 50964 12674 sw9578;dbsnp10763;dbsnp10764;dbsnp10765 KXDL1_HUMAN;NP_076974.2;NP_001165419.1;NP_001165420.1 "E176K,G164S,P157A,R83H,T168R,V10L" "0,0,0,0,0,0" 79036 13435 sw9579;dbsnp17297;dbsnp17298 APOL2_HUMAN;NP_663612.1;NP_112092.1 "A265T,I245V,M153I,R182C,R78K" "0,0,0,0,0" 23780 8308 sw9580;spmut1896;dbsnp20440 SENP7_HUMAN;NP_065705.3 "A874T,D637Y,H1016R,K79Q,L223F,N308S,P732S,Q241H,Q492R,Q612H,Q612K,R4K,R737Q,R904P,T242S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57337 1898 sw9581;dbsnp8704 MBB1A_HUMAN;NP_055335.2 "A1061G,A1123P,A1154G,A1294T,A135G,A191V,A311E,A470P,A567V,A685V,A843D,D1133N,D120H,D204N,D204Y,D751N,D916N,E511G,E745G,F35L,G1143R,G1226R,G334R,G962S,H680Y,H958P,I184V,K1299R,K498R,K529R,K638E,L1142V,M1208L,M761L,P212S,P417R,P9L,Q8E,R1130H,R1146C,R331P,R570H,R636C,R671W,R748S,R808Q,R885C,R906Q,R976Q,R976W,S1045L,T1106M,T1178M,T1269M,T708S,T919I,T987N,V1069M,V250M,V329M,V337M,V673M,V828L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10514 1105 sw9582;dbsnp23789 NUD12_HUMAN;NP_113626.1 "A386T,I235V,K102E,K129E,L250P,Q270L,S7T,V216I" "0,0,0,0,0,0,0,0" 83594 7366 sw9583;sws1078;dbsnp25872 E2AK1_HUMAN;NP_055228.2 "F292L,F368V,I146V,K100T,K132T,K558R,L311V,L319H,P139S,R117T,R134K,R145H,R291C,R347H,R403W,T493I,V239M,W392R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27102 4801 sw9584;dbsnp14298 SGIP1_HUMAN;NP_115667.2 "A308T,D730N,E112Q,K131R,K575E,L371Q,P161Q,P320L,R368C,R368H,R774T,V671I" "0,0,0,0,0,0,0,0,0,0,0,0" 84251 3042 sw9585;dbsnp23536 ANR32_HUMAN;NP_115666.2 "A1042D,A171S,C993F,C993Y,D206G,G716R,I67T,K299N,M17T,R138Q,S288R,V836G,Y556C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84250 1865 sw9586;dbsnp23434 PSD2_HUMAN;NP_115665.1 "A672V,D301E,E325K,F68L,G107A,G199C,G21D,G21S,G256E,G256V,G257R,G29E,G363R,G517S,I200T,P221S,P297S,P769R,R224C,R237C,R31Q,R51M,V133M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84249 3435 sw9587;dbsnp16606;hgmd0613_2040 LPIN3_HUMAN;NP_075047.1 "D199A,D476Y,D95E,E190K,E539K,E781Q,G524S,G647S,K715Q,M337I,P588S,Q121E,Q679H,R146H,R181K,R20Q,R259W,R522W,R61W,R783C,R790Q,S118L,S226L,T624P,V132I,V355L,V777G,W110C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64900 2894 sw9588;dbsnp16243;hgmd0613_1839 FERM1_HUMAN;NP_060141.3 "A534T,D665A,E213K,I160T,N156S,P521T,R100H,R255C,R526G,R526K,R535W,R98H,S400P,V241A,V543M,W559R" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,1" 55612 4194 sw9589;dbsnp16539 CT144_HUMAN;NP_543015.1 "Q141L,Q62R" "0,0" 128864 13861 sw958;dbsnp20428 CAND2_HUMAN;NP_001155971.1 "A1225P,A1225S,A1225T,A576V,D344G,E276Q,E331V,G294D,G851C,H655R,H858L,H858P,H858R,L845F,L965V,M497V,P476L,Q408H,Q408R,R366Q,R768C,S32L,S365L,S491R,S533A,S533P,V77A,V88A,V990I,V990L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23066 1319 sw9590;dbsnp16299 FA83C_HUMAN;NP_848563.1 "A364T,A663G,E134K,E670A,F72L,G703D,G703V,L394V,L596F,M81T,N652S,P623S,R195W,R196H,R295L,R385C,R621Q,R626Q,R645C,R661H,R672W,R719W,S405P,S559P,V520L,V520M,Y600H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 128876 3640 sw9591;dbsnp16582;hgmd0613_2216 CT072_HUMAN;NP_443097.1 "G301R,H281R,N268I,P81R,R178W,R220Q,S15C,T265I,T329M" "0,0,0,0,0,0,0,0,0" 92667 9813 sw9592;dbsnp16340 BPIA3_HUMAN;NP_848561.2 "A32P,A41E,D132H,D132N,D166N,F148V,H22Q,I108M,P201L,Q46R,R157W,V136I" "0,0,0,0,0,0,0,0,0,0,0,0" 128861 11820 sw9593;dbsnp20135 GORS1_HUMAN;NP_114105.1 "A127G,A127V,A31V,D317Y,G225S,N318S,P206H,R101C,R106H,S109R,S139L,S263C,S432N,T151R,T425M,V302I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64689 7769 sw9594;dbsnp8802 HSPB9_HUMAN;NP_149971.1 "F8S,K100N,K100R,Q2P" "0,0,0,0" 94086 13748 sw9596;dbsnp20520;hgmd0613_2069 FYCO1_HUMAN;NP_078789.2 "A1384G,A679V,A936T,D1078E,E238A,E994K,F517I,G321A,G630R,H727N,K1108E,K1108R,L1376P,M374T,N1001D,N1001K,N1131T,P1260R,Q1071R,Q468K,R1140Q,R1439H,R15Q,R236Q,R250L,R250Q,R250W,R282H,R290H,R339Q,R355W,R442Q,R447C,R492W,R615W,R652Q,R765H,R871Q,R89C,S1008R,S148L,S216F,S662F,S669N,T1323M,T1422M,T1440I,T381M,T480M,V151A" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79443 861 sw9597;dbsnp5966 ODC_HUMAN;NP_085134.1 "D49N,G171R,P272S,P33S,R61Q,T143I,V26L,V89A,W299C" "0,0,0,0,0,0,0,0,0" 89874 10881 sw9598;sws1079;dbsnp3988 CSTN3_HUMAN;NP_055533.2 "A15S,A168S,D119N,I710L,K500N,L426Q,P952S,Q642E,Q642H,S209G,S935L,S940F,T951N,V397I,V856M,Y214C,Y522H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9746 2176 sw9599;dbsnp16654 NEUL2_HUMAN;NP_542787.1 "E211K,K276T,M204T" "0,0,0" 140825 11188 sw959;dbsnp20024 T22D2_HUMAN;NP_055594.1 "A118P,A419T,A562G,A568S,G497S,L88V,P472S,P746T,Q479H,Q758K,S525F,S671L,V147L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 9819 3357 sw95;dbsnp22956 AN34B_HUMAN;NP_001004441.2 "H55Q,I149V,I391T,K408E,L156S,L242P,R24C,S102A,S402F,T302A,V338A" "0,0,0,0,0,0,0,0,0,0,0" 340120 6401 sw96 TM189_HUMAN W7G 0 387522 9207 sw9600;dbsnp16342 SPT25_HUMAN;NP_542175.1 "P11S,P94L,R173Q,R199Q,R88Q,R97K,V169I" "0,0,0,0,0,0,0" 128497 12389 sw9601;dbsnp16320 ZSWM1_HUMAN;NP_542170.3 "A347V,D474N,I156V,L108I,P8L,R101Q,R110Q,R188Q,R284H,T261S" "0,0,0,0,0,0,0,0,0,0" 90204 6916 sw9602;dbsnp16102 OCSTP_HUMAN;NP_542452.1 "A407T,G184D,G356D,H562P,H562R,L214R,P565S,R183Q,R423L" "0,0,0,0,0,0,0,0,0" 128506 5602 sw9604;sws1080;spmut404;dbsnp1944;dbsnp1945 COR1B_HUMAN;NP_001018080.1;NP_065174.1 "A165V,A418T,D472N,E123Q,E454D,P421L,R476L" "0,0,0,0,0,0,0" 57175 6859 sw9605;dbsnp3363 CCD77_HUMAN;NP_115734.1 "D351G,D351N,E46K,F192L,F388V,K421E,M335T,Q115E,Q242H,Q98R,R391S,S25R,V24I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84318 6873 sw9607;dbsnp7352 PIGQ_HUMAN;NP_683721.1 "A117V,C592R,C668R,C668Y,D149E,D167N,E683V,H522Q,L501F,P518L,P601A,Q434H,R251Q,R502Q,R519C,R53Q,R675P,S418C,T14A,T14M,V12I,V373M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9091 3518 sw9608;dbsnp2311 BUD13_HUMAN;NP_116114.1 "A22S,E111K,I238V,I324M,P148L,P327S,P408L,R120C,R144C,R181C,R181H,R194H,R242I,R253G,R481M,S388C,S412R,Y318N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84811 4928 sw9609;dbsnp7466 CPPED_HUMAN;NP_060810.2 "A19D,C197R,E140K,G44E,H290P,I65S,K241R,K81Q,K98N,N56S,T105M,T284I,V72I,V86I,Y168F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55313 10560 sw9610;spmut2358;dbsnp9665 VPS25_HUMAN;NP_115729.1 "I76V,V167I" "0,0" 84313 13436 sw9611;sws1081;spmut1922;dbsnp11705 SH23A_HUMAN;NP_005481.2 "A39T,D196N,D223G,I136T,L205F,M155T,N32D,P229L,P452S,R142T,R157Q,R157W,R199G,R215Q,R237Q,R427G,S173T,S201F,S316N,V235M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10045 5472 sw9612;dbsnp9680 RM45_HUMAN;NP_115727.4 "A31V,G298V,I106M,I212L,K54N,N154D,R219W,R227Q,V266I" "0,0,0,0,0,0,0,0,0" 84311 10731 sw9613;dbsnp6899 MESP1_HUMAN;NP_061140.1 "A53P,L61R" "0,0" 55897 8637 sw9614;sws1082;spmut1149;dbsnp1098 LZTS2_HUMAN;NP_115805.1 "A352T,A564V,A648T,E646Q,G40R,K458R,P45L,R168W,R299W,R46C,R562W,R612H" "0,0,0,0,0,0,0,0,0,0,0,0" 84445 4384 sw9615;sws1083;spmut249;dbsnp14707 CAB45_HUMAN;NP_057260.2 "A34V,A355G,A355V,D70E,E337G,E52D,E53D,E55D,N50D,R37W,R98Q,V177I,V298M,V48A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51150 9362 sw9616;dbsnp1820 PAAF1_HUMAN;NP_079431.1 "A209G,A53V,C139S,D350V,G174D,G218D,G36A,P242S,V148L" "0,0,0,0,0,0,0,0,0" 80227 8757 sw9617;dbsnp1489 FDXA1_HUMAN;NP_612387.1 "C407Y,D160N,F385L,I467T,I87N,T28A,T475P,V114I" "0,0,0,0,0,0,0,0" 91893 4856 sw9618;dbsnp3593 WIBG_HUMAN;NP_115721.1 "E102D,E66Q" "0,0" 84305 12875 sw9619 NUD22_HUMAN "L263P,Q260R" "0,0" 84304 10797 sw961;spmut1056;dbsnp13046 KDM4A_HUMAN;NP_055478.2 "A482E,F501L,M374V,M427T,Q407R,R596C,R98C,S641T,S742G,V743I,V877G,V988M" "0,0,0,0,0,0,0,0,0,0,0,0" 9682 1844 sw9620;dbsnp20369 CHCH6_HUMAN;NP_115719.1 "A95S,H213Y,K165Q,L101F,P48S,R150C,R151C,R191H,S13T,S13Y,V196I,Y208H" "0,0,0,0,0,0,0,0,0,0,0,0" 84303 12229 sw9621;dbsnp324;dbsnp325 AIFM2_HUMAN;NP_001185625.1;NP_116186.1 "D288N,G2V,G324D,K225R,L94R,M135T,M157V,R221Q,R253C,R357W" "0,0,0,0,0,0,0,0,0,0" 84883 9137 sw9622;dbsnp24314;dbsnp24315 ZKSC3_HUMAN;NP_077819.2;NP_001229823.1 "C485R,F34L,G33V,H246Q,I447T,K200A,K200E,K200T,K405R,R300S,R3T,T518A,V119M,V189M,V474G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80317 5916 sw9624;dbsnp11411 GPTC1_HUMAN;NP_060495.2 "A128P,A863V,D631E,E201K,E386K,E909K,G674R,G784E,H724R,K220T,K641Q,L476P,L520S,L728S,M489I,N589D,N857T,P139S,R48Q,R80G,S251L,W323R,Y321C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55094 2428 sw9626;dbsnp25365 RIOK1_HUMAN;NP_113668.2 "A362T,G515E,I207V,K451E,M105V,M314I,R114Q,R519C,R519H,T564M,V375I" "0,0,0,0,0,0,0,0,0,0,0" 83732 5576 sw9627;dbsnp28369 CBWD1_HUMAN;NP_060961.3 "A8T,A8V,G139R,H177P,I166V,L178S,L88V,N355S,N363I,P3L,S115N,T218M,Y50H" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55871 8682 sw9628;dbsnp27453 UTP23_HUMAN;NP_115710.2 "H170P,H170R,K10R,K195Q,P215L,P215Q,P215R" "0,0,0,0,0,0,0" 84294 11932 sw9629;dbsnp23179 PELO_HUMAN;NP_057030.3 "K239R,L221M,V351I" "0,0,0" 53918 8893 sw962;dbsnp20538 DJC13_HUMAN;NP_056083.3 "A1421V,A1463S,A2057S,A423V,D1932E,E1291G,E1740Q,E426G,F1487C,G1001A,I1605V,I1929L,K779R,L2170W,M2225I,N1952T,P1515S,R1400Q,R1462H,R1516C,R1516H,R1588H,R1872Q,R903K,S1482R,S790Y,T1895M,V1995I,V1995L,V60A,Y1673C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23317 319 sw9630;dbsnp12101;dbsnp12102 WDR83_HUMAN;NP_001093207.1;NP_115708.1 "G278S,G99A,R304Q,V300I" "0,0,0,0" 84292 10533 sw9631;dbsnp11697 S39A3_HUMAN;NP_653165.2 "F100L,G194R,M138T,P257L,R169H,R39H,V202M,V260M" "0,0,0,0,0,0,0,0" 29985 10561 sw9632;dbsnp11178 ZN649_HUMAN;NP_075562.2 "A469T,E259Q,E464K,E80G,G352D,I349S,I418T,I73L,S476G,T148M" "0,0,0,0,0,0,0,0,0,0" 65251 4947 sw9633;dbsnp19916 LXN_HUMAN;NP_064554.3 "A13V,H53R,I187T,M113V,Q63K,Q81R,R214H,R48K,T134M,V136I,V16M" "0,0,0,0,0,0,0,0,0,0,0" 56925 12494 sw9634;dbsnp21281 S35A5_HUMAN;NP_060415.1 "A363V,G257E,L193P,N247I,R145H,S116A,S31P,S70P,S87P,V333I,Y249C" "0,0,0,0,0,0,0,0,0,0,0" 55032 8064 sw9635;dbsnp28783 NPS3B_HUMAN;NP_060846.2 "A159G,A94P,E190K,E201G,G182A,H61N,K154E,L131P,R206H,R40C,R96Q,T178K,Y37F" "0,0,0,0,0,0,0,0,0,0,0,0,0" 55335 11976 sw9636;dbsnp9347 TTYH2_HUMAN;NP_116035.5 "A118V,A262T,A409E,D423E,G489C,G501R,H85D,H85Y,I407M,L138V,L389W,M196T,P11H,R156Q,R156W,R237C,R493C,S265A,T419I,V106I,V181I,V497M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 94015 6074 sw9637;dbsnp22382 TM175_HUMAN;NP_115702.1 "A149T,A326G,D371Y,G307R,I78T,L220F,L405V,L82V,M341T,M393T,N113T,N284D,P14L,P165A,Q65P,R174C,R335H,R370H,R414W,T58M,V153M,V285A,V300M,V88M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84286 6586 sw9638;dbsnp18510 NOL10_HUMAN;NP_079170.2 "D635N,F353V,F645C,K471R,R565H,R576W,T586A,V3F,Y144S" "0,0,0,0,0,0,0,0,0" 79954 4187 sw9639;spmut1398;dbsnp14638 NTPCR_HUMAN;NP_115700.1 "A92S,G106E,G66E" "0,0,0" 84284 13168 sw963;dbsnp24672 PHAR2_HUMAN;NP_055536.2 "D2N,H185R,I449V,P165S,T217I" "0,0,0,0,0" 9749 4641 sw9640;dbsnp14248 TMM79_HUMAN;NP_115699.1 "D144G,E155K,L10M,L301P,P365L,P42L,R127C,R148C,R195C,R275W,R31Q,R31W,S104T,T2I,V147M,V322I,V49M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84283 8706 sw9641;dbsnp26288 HERP2_HUMAN;NP_071768.3 "A108T,A185V,H157Y,H200L,H66Y,I26V,M6L,R101G,V134M" "0,0,0,0,0,0,0,0,0" 64224 8464 sw9642;dbsnp14208 SPEB_HUMAN;NP_079034.3 "G105R,H201Q,N237K,N86S,R140Q,T229M" "0,0,0,0,0,0" 79814 9608 sw9643;dbsnp18827;dbsnp18828;dbsnp18829;dbsnp18830 CB088_HUMAN;NP_001035986.1;NP_001035985.1;NP_001035984.1;NP_115697.2 T56I 0 84281 14719 sw9644;dbsnp2341 BTBDA_HUMAN;NP_115696.2 "G386R,R368K,R38H,S199F,T145A" "0,0,0,0,0" 84280 7110 sw9645;dbsnp10792 RTBDN_HUMAN;NP_001074466.1 "G198A,P202T,R104Q,R32C,R4S,R78L,V173M" "0,0,0,0,0,0,0" 83546 11686 sw9646;dbsnp9701 TACO1_HUMAN;NP_057444.2 "G145S,H68Y,I296T" "0,0,0" 51204 10935 sw9647;dbsnp28480 HDHD3_HUMAN;NP_112496.1 "D223V,E142D,G146E,H181R,R140W,R54S,T11M" "0,0,0,0,0,0,0" 81932 11891 sw9649;dbsnp381 GCP2_HUMAN;NP_006650.1 "A111T,A293V,A372V,A601V,A609T,A796T,A809T,A898T,F699L,I193T,P204L,R333C,S344L,T149M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10844 2432 sw9650 CQ080_HUMAN H395N 0 55028 5032 sw9651;dbsnp10076 FA64A_HUMAN;NP_001182157.1 "R121W,R176Q,S129N,S199C,V112G,V116L,V116M,V40I" "0,0,0,0,0,0,0,0" 54478 11948 sw9652;dbsnp4396 ESYT1_HUMAN;NP_056107.1 "E646K,E7K,I251T,I352T,L161V,L598W,L863F,M262L,M262V,P167L,P811L,Q206H,Q839K,R1003H,R266Q,R471P,R471Q,R530L,R530Q,R764C,S941L,T553P" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23344 1681 sw9653;dbsnp11424 ZN577_HUMAN;NP_116068.2 "A171T,A84V,E159G,E373K,F111L,I404K,I62V,K246E,R123C,R234K,R256Q,R346C,R357S,R431C,S263L,T207S,T375I,Y270C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84765 6917 sw9654;dbsnp15063 S2533_HUMAN;NP_115691.1 L242I 0 84275 10373 sw9655;dbsnp12379 FEM1A_HUMAN;NP_061178.1 "A249V,E248G,G246E,H500Y,L201M,S454N,V522I" "0,0,0,0,0,0,0" 55527 4385 sw9656;dbsnp28958 UBAC1_HUMAN;NP_057256.2 "E161K,E374D,H49Y,I350M,K338E,K338M,K338Q,K338R,P333L,P363A,T239M,T266P" "0,0,0,0,0,0,0,0,0,0,0,0" 10422 8492 sw9657;dbsnp7403;dbsnp7404 TM204_HUMAN;NP_078876.2;NP_001243470.1 G57A 0 79652 12416 sw9659;dbsnp22315 NAA11_HUMAN;NP_116082.1 "A6T,L19F" "0,0" 84779 12222 sw965;dbsnp13924 ATS4_HUMAN;NP_005090.3 "A232T,A392V,A77T,D304N,E105K,E95K,F800V,G146E,G682R,G682S,G76D,K670T,L223V,M369V,N418S,P341L,P400A,P465L,P552T,P720A,Q626R,R410C,R447L,R567C,R637Q,R829Q,R830W,R836K,S100P,T169I,T4I,T564A,T576A,T809M,T91A,V802M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9507 2983 sw9661;dbsnp3304 EFC4B_HUMAN;NP_116069.1 S391L 0 84766 3774 sw9662;dbsnp11984;hgmd0613_2101 FUZZY_HUMAN;NP_079405.2 "A34S,A407G,A413D,D354N,G175D,M51V,T335N,T400I" "0,0,0,0,0,0,0,0" 80199 8205 sw9663;dbsnp25122 CNPY3_HUMAN;NP_006577.2 "A220T,D217G,M145I,S231I" "0,0,0,0" 10695 11306 sw9664;dbsnp317 MTG1_HUMAN;NP_612393.2 "C145Y,C51G,G64A,I293L,I293V,L46Q,P328S,P334S,R65C,V206M" "0,0,0,0,0,0,0,0,0,0" 92170 10039 sw9666;dbsnp11147 HAUS8_HUMAN;NP_219485.1 "A326G,A326V,A341V,A50V,G83R,P372L,P399L,R345W,T157M,T364M" "0,0,0,0,0,0,0,0,0,0" 93323 8382 sw9667;dbsnp10762 ALKB7_HUMAN;NP_115682.1 "E153K,R191Q,R196W" "0,0,0" 84266 12511 sw9668;dbsnp17351;dbsnp17352 THAP7_HUMAN;NP_085050.2;NP_001008695.1 "A115P,A115S,E69Q" "0,0,0" 80764 10670 sw9669 UPK3B_HUMAN "Q293R,W319R" "0,0" 80761 10395 sw966;dbsnp16676 CREST_HUMAN;NP_945173.1 "A155T,A321T,A322T,G220S,M189I,P114S,P87S" "0,0,0,0,0,0,0" 26039 8216 sw9670;dbsnp13128 SYT11_HUMAN;NP_689493.3 "D188G,G231V,H41R,N71H,Q43R,Q48H,V403I" "0,0,0,0,0,0,0" 23208 7932 sw9671;dbsnp4056;dbsnp4057 TCHP_HUMAN;NP_001137324.1;NP_115676.1 "A234V,A302V,A371T,E417K,E93K,K127R,K236R,Q18H,Q393R,R340Q,R420C,R420G,R444H,R463Q,S44P,Y140C" "0,0,0,0,1,0,0,0,0,0,0,0,0,0,1,0" 84260 6699 sw9672;sws1085;dbsnp303 WAC_HUMAN;NP_057712.2 "A49T,H240Q,N546S,P464L,P472T,Q487P,S242R,S534G,T195A,T309A,T531S,Y95C" "0,0,0,0,0,0,0,0,0,0,0,0" 51322 4618 sw9673;dbsnp16091;dbsnp16092 DIDO1_HUMAN;NP_149072.2;NP_001180298.1 "A1293V,A1307V,A1332T,A1689V,A471P,A556T,A793G,E1498A,E204K,E448D,E939K,G1717D,G493R,G58S,H1707L,K339R,K569Q,L1706V,L1831F,M544T,N2080S,N687S,P1220L,P1220Q,P13L,P1984L,P257L,P276L,P616L,P7L,Q1167H,R1201H,R1845C,R187H,R985H,S1541P,S1708C,S650L,T1288A,T1339S,T1568A,T792M,V132M,V1743G,V1837A,V961I,Y1024C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11083 322 sw9674;dbsnp9053 NAT9_HUMAN;NP_056469.2 "C56R,Q78R" "0,0" 26151 12812 sw9675;dbsnp11052 IER2_HUMAN;NP_004898.2 A133V 0 9592 12478 sw9676;dbsnp12132 LRFN3_HUMAN;NP_078785.1 "A14V,A264V,A271V,A549S,P400S,P522H,P533S,R479G,V320A,V611L" "0,0,0,0,0,0,0,0,0,0" 79414 3297 sw9677;dbsnp11467 FAP24_HUMAN;NP_689479.1 "G10A,I192T,R95L,R95Q,S126F,S158L,T212M,V163M" "0,0,0,0,0,0,0,0" 91442 12640 sw9678;dbsnp25082 LRRC1_HUMAN;NP_060684.4 "C334G,G114R,I193V,L375S,S16I,V59I" "0,0,0,0,0,0" 55227 685 sw967;dbsnp21964 ANR17_HUMAN;NP_115593.3 "G2428E,H2560Y,I1673M,I1800F,L912P,M1419V,P2130A,P2280T,P2408L,P2589A,R2091S,T111I,T2577P,V1166M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26057 210 sw9680;dbsnp12147 FSD1_HUMAN;NP_077309.1 "A127T,E363K,G307S,L232V,M32I,P210L,T311M,T88M" "0,0,0,0,0,0,0,0" 79187 6141 sw9681;dbsnp28447 WDR85_HUMAN;NP_620133.1 "A193V,A443V,D419G,D87A,E209K,G158R,H104N,H295Q,R120C,R346C,R350Q,T323M" "0,0,0,0,0,0,0,0,0,0,0,0" 92715 7555 sw9682;dbsnp16474 CABL2_HUMAN;NP_112492.2 "A408T,M167I,R272Q,S277P,T428K,V381L" "0,0,0,0,0,0" 81928 4765 sw9683;dbsnp9025 TBCD_HUMAN;NP_005984.3 "E1097G,F1095L,G943V,L1185P,M617T,M856V,R772C,S923N,T117R,V840M" "0,0,0,0,0,0,0,0,0,0" 6904 1440 sw9684;dbsnp15158 NDC1_HUMAN;NP_060557.3 "A93V,F542L,G154D,I106L,I106V,I38N,I55M,K430N,N187D,S141R,T629I" "0,0,0,0,0,0,0,0,0,0,0" 55706 4328 sw9685;dbsnp7891 TM208_HUMAN;NP_054906.2 "D82Y,L102P" "0,0" 29100 13487 sw9686;dbsnp16655;dbsnp16656 TTPAL_HUMAN;NP_001034288.1;NP_077307.2 "A278G,D282E,G313S,Q97K,R66L" "0,0,0,0,0" 79183 9857 sw9687;dbsnp24951 FUCO2_HUMAN;NP_114409.2 "A233E,A43T,F243L,H371Y,I310L,M356V,M442T,M442V,N219I,R374Q,V380I" "0,0,0,0,0,0,0,0,0,0,0" 2519 7265 sw9688;dbsnp5481 DHRS4_HUMAN;NP_066284.2 "A31T,A4T,D128A,D259E,H2R,I126L,P202Q,P202S,R12W,R26H,R64Q,T75M,V73A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 10901 11258 sw9689;dbsnp6020;dbsnp6021 THTPA_HUMAN;NP_001119811.1;NP_077304.1 "A70S,G71C,H176R,R200H" "0,0,0,0" 79178 12325 sw968;dbsnp7320 AT2C2_HUMAN;NP_055676.2 "A138T,E627K,E79V,G411S,G780W,G868D,I150M,I741L,L604Q,L907P,M165L,M466L,R797W,R897S,R938T,S267N,T856P,V102M,V351M,V375I,V646M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9914 2225 sw9690;dbsnp14726 ZN692_HUMAN;NP_060335.2 "A171T,P230R,P232L,P256L,P305L,R144W,T152M,T234S" "0,0,0,0,0,0,0,0" 55657 6230 sw9691;dbsnp15720 RSG1_HUMAN;NP_112169.2 "E86G,G163V,P208L,R160H,T191I,V227I" "0,0,0,0,0,0" 79363 11749 sw9692;sws1086;dbsnp17615 LMF2_HUMAN;NP_149977.2 "A412T,D288A,D592E,D592G,G603R,I237V,L326F,M508V,N272T,P499S,P520L,P593T,P97S,Q653H,R249H,R251C,R300H,R503H,R561H,S542T,S608N,T201I,T479K,T479M,T479R,T517A,T594M,V323I,V377L,V498A,V557I,Y452C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91289 4012 sw9695;dbsnp18307 CENPO_HUMAN;NP_077298.1 "A129T,F178C,K14R,L148F,L197P,L62P,N100S,P232L,Q34R,R196W,V257L" "0,0,0,0,0,0,0,0,0,0,0" 79172 10856 sw9696;dbsnp28681 NAP1_HUMAN;NP_057565.3 "H428R,I145M,N123S,Q79L,S7P,V252A,V266M,V324M" "0,0,0,0,0,0,0,0" 51531 7746 sw9697;dbsnp2766 CK084_HUMAN;NP_612480.1 "E58Q,P252T,P314A,Q283H,Q70H,R351C,R351H,R99Q,V204I,V43M" "0,0,0,0,0,0,0,0,0,0" 144097 8955 sw9698;dbsnp26624 MYL10_HUMAN;NP_612412.2 "A39T,D177N,G24E,K151N,M129L,M129V,M46T,R189C,R32W,T112S" "0,0,0,0,0,0,0,0,0,0" 93408 12417 sw9699;dbsnp7628 ADAT1_HUMAN;NP_036223.2 "A241G,D409A,G211R,H167N,I226V,I254T,K273M,P225A,P248S,Q417R,R377C,S296F,S42C,T203N,T242P,V392F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23536 6619 sw969;dbsnp27231;hgmd0613_2236 DNJB6_HUMAN;NP_490647.1 "F89I,F93L,P96R,S321L,S321P" "1,1,1,0,0" 10049 10238 sw9700;spmut1243;dbsnp14538 MKNK1_HUMAN;NP_003675.2 "D308N,E419K,G236D,K49Q,L158V,P265L,R446Q,R93Q" "0,0,0,0,0,0,0,0" 8569 7299 sw9701;dbsnp27333;hgmd0613_1854 TMM70_HUMAN;NP_060336.3 "A34P,D259E,I244V,L116V,L23F,N228K,T127A,T250A,V194M" "0,0,0,0,0,0,0,0,0" 54968 11705 sw9702 SPON2_HUMAN "E122A,L40P,R38G,V242L" "0,0,0,0" 10417 10114 sw9703;sws1087;dbsnp12084 ZSA5A_HUMAN;NP_077279.1 "D157Y,D257E,E381K,G108S,G337V,H180R,H203R,N287S,P258L,P325L,P354L,R120Q,R322S,S282L,S305T,V109M,V38G,V38L,V416I,Y468H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79149 6679 sw9704;dbsnp13219 RPC3_HUMAN;NP_006459.3 "D223H,E184G,H243R,K192T,K198E,K532T,Q371E,R367H,R84Q,S33C,V323A,V58I" "0,0,0,0,0,0,0,0,0,0,0,0" 10623 6075 sw9705;dbsnp19972 ABHEA_HUMAN;NP_056222.2 "C61W,D159N,L230R,M30R,R155W,R227G,R32Q" "0,0,0,0,0,0,0" 25864 11461 sw9706;dbsnp12035 HNRL1_HUMAN;NP_008971.2 "E121K,E125K,G791S,G91C,N103S,R468C,T807I,Y137C" "0,0,0,0,0,0,0,0" 11100 2858 sw9707;dbsnp13060 MSTO1_HUMAN;NP_060586.2 "C443R,D531N,E311K,I421V,K529R,L108F,P476S,Q98R,T324I,V288M,Y278C" "0,0,0,0,0,0,0,0,0,0,0" 55154 5550 sw9708;spmut1486;dbsnp21644;dbsnp21645;dbsnp21646 PDC10_HUMAN;NP_665858.1;NP_665859.1;NP_009148.2 "D102A,V192I" "0,0" 11235 12698 sw970;dbsnp19942 XYLB_HUMAN;NP_005099.2 "A236S,C252W,D133N,D139E,D57H,D85E,G51S,N348D,P534T,P535L,R429Q,S160R,S468L,T485I,T60M,V228I,V22G,V25L,V487M,Y262N,Y461C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9942 6041 sw9710;dbsnp13408 CC28B_HUMAN;NP_077272.2 "G155R,R25W" "0,0" 79140 11394 sw9711;dbsnp27532 DERL1_HUMAN;NP_077271.1 "I171V,Y154C" "0,0" 79139 11892 sw9712;dbsnp18971 EFHD1_HUMAN;NP_079478.1 "K186R,R106Q,R71Q,S201L" "0,0,0,0" 80303 12133 sw9713;spmut914;dbsnp2094;dbsnp2095;dbsnp2096 HTAI2_HUMAN;NP_006401.3;NP_001091992.1;NP_001091991.1 "A101V,A116T,A99G,D108Y,G134V,K153E,L144I,R106S,S197R" "0,1,0,1,1,0,1,1,0" 10553 11354 sw9714;dbsnp8540;dbsnp8541;dbsnp8542;dbsnp8543;hgmd0613_1867 WAP53_HUMAN;NP_060551.2;NP_001137462.1;NP_001137463.1;NP_001137464.1 "A522G,E117A,E410D,E494Q,F164L,G408D,G435R,G536R,H376Y,N187T,P11S,P136R,P359S,P501S,R307W,R398W,R513G,R68G,S16A,V63M" "0,0,0,0,1,0,1,0,1,0,0,0,0,0,0,1,0,0,0,0" 55135 5870 sw9715;dbsnp21808 BDH2_HUMAN;NP_064524.3 "A230V,A23P,E29D,M109T,N105I,N70S,R107H,R199Q,R199W,S125P,T12M" "0,0,0,0,0,0,0,0,0,0,0" 56898 12010 sw9716;dbsnp7408 MET22_HUMAN;NP_077014.2 "A219T,A366T,C232Y,D290H,E375K,I398V,V374G,W59S" "0,0,0,0,0,0,0,0" 79091 8506 sw9717;dbsnp13218 CA063_HUMAN;NP_064713.3 "D17N,E239G,R102G,R135G,R157K,R157S,R163W,V216A,Y147H" "0,0,0,0,0,0,0,0,0" 57035 11097 sw9718;dbsnp11264 ZN426_HUMAN;NP_077011.1 "A456T,A4V,G105E,G230E,R378C,T173I,T219A,T441M,W118G" "0,0,0,0,0,0,0,0,0" 79088 3286 sw9719;dbsnp6044 EFC11_HUMAN;NP_660274.1 "A15V,D31G,E153Q,E19A,E77K,T45A" "0,0,0,0,0,0" 90141 13663 sw9720;dbsnp9730 TRAF4_HUMAN;NP_004286.2 "A173T,A265V,P70L,R178G" "0,0,0,0" 9618 7204 sw9722;dbsnp14434 CA050_HUMAN;NP_077002.2 "H146Y,H48Y,I112T,I166T,T178M" "0,0,0,0,0" 79078 12978 sw9723;spmut1290;dbsnp11785 MTNA_HUMAN;NP_001026897.1 "A97G,D307N,E130G,E290K,F78C,G208R,G319A,M235V,R350Q,R7C,S12F" "0,0,0,0,0,0,0,0,0,0,0" 84245 9224 sw9724;dbsnp6789;dbsnp6791 CO057_HUMAN;NP_001074261.1;NP_443081.1 K2I 0 90416 13106 sw9726;dbsnp11302 WDR18_HUMAN;NP_077005.2 "A172T,I161T,I239M,I62V,L213F,R253T,R410H,S385I,V264I" "0,0,0,0,0,0,0,0,0" 57418 7911 sw9727;dbsnp20153;dbsnp20154 THUM3_HUMAN;NP_001107564.1;NP_056268.2 "A454V,D196V,D343E,E100Q,G497R,K237E,R459Q,S138N,T452I,V96A" "0,0,0,0,0,0,0,0,0,0" 25917 6530 sw9729;dbsnp16291 CP250_HUMAN;NP_009117.2 "A1238D,A1323T,A1933E,A2181G,A227T,A334V,A568T,A636T,D2006N,E1202K,E1202V,E2071K,E287K,E737K,E881K,G362A,H2053Y,H2129R,K925N,L2103V,L2323V,M161T,M2315V,N2120D,Q1072E,Q1175K,Q1544H,Q17K,Q86R,Q995H,R1441Q,R176C,R1857C,R1857H,R189H,R1992C,R2291H,R434T,R488C,R519Q,R985Q,T707M,V1588L,V613F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11190 262 sw9730;dbsnp13319 MECR_HUMAN;NP_057095.2 "A114V,A277V,E179K,F96L,F96S,R227K,R258L,T372A" "0,0,0,0,0,0,0,0" 51102 9138 sw9731 CNPD1_HUMAN "I262T,L292P,L383P,P366L,R344T" "0,0,0,0,0" 27013 8383 sw9732;dbsnp16136 EDEM2_HUMAN;NP_060687.2 "A456T,D211E,I326V,I329T,K552N,L556F,M378V,P531L,Q249R,R219T,R288W,R292H,R510Q,S522L,S73I,T118A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55741 5448 sw9733;dbsnp26356;dbsnp26357 LRC61_HUMAN;NP_001136400.1;NP_076431.1 "E195K,N143S,N81S,R168H,R177L,R39H,V258I" "0,0,0,0,0,0,0" 65999 11721 sw9734;dbsnp8149 KTNB1_HUMAN;NP_005877.2 "A453S,A453V,D520N,M181V,N383K,P440R,P452S,P600T,R370C,R617Q,T189M,T189R,T523M,T60M,T73A,V316M,V483A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10300 4533 sw9736;dbsnp27434 DCC1_HUMAN;NP_076999.2 "E290A,H376R,I14M,I191S,M180V,Q365K,S76G" "0,0,0,0,0,0,0" 79075 8728 sw9737;dbsnp19158 ASHWN_HUMAN;NP_076998.1 "A222V,D4N,G185D,K188R,P220L,S193F" "0,0,0,0,0,0" 79074 12294 sw9738;dbsnp8287 KIFC3_HUMAN;NP_005541.3 "A709G,E318K,G391V,L740F,N521S,S828L,T667M,V364I,V389G" "0,0,0,0,0,0,0,0,0" 3801 3018 sw9739;dbsnp16500 PHF20_HUMAN;NP_057520.2 "A1007T,A395S,D447N,D626N,G490E,H337R,P160L,P194L,P241L,P413S,R801T,V605M" "0,0,0,0,0,0,0,0,0,0,0,0" 51230 2060 sw9740;dbsnp29801 UT14A_HUMAN;NP_006640.2 "G535A,G535W,N753H,P146A,R272Q,V140I,V256M,V487A" "0,0,0,0,0,0,0,0" 10813 3436 sw9741;dbsnp13323 DUS23_HUMAN;NP_060293.2 "C95S,E124V,G131S" "0,0,0" 54935 13920 sw9743;dbsnp23608 TMED9_HUMAN;NP_059980.2 "P55Q,T16S" "0,0" 54732 12230 sw9744;dbsnp11172 TM147_HUMAN;NP_116024.1 "A196T,L3P,Y132H" "0,0,0" 10430 12456 sw9745;dbsnp5150 NUPL1_HUMAN;NP_054808.1 "A174G,A34T,D244G,G192E,K71N,N113S,R436Q,S166P,V464I" "0,0,0,0,0,0,0,0,0" 9818 5149 sw9746;dbsnp17516 SELO_HUMAN;NP_113642.1 "A645V,D278N,E294K,E630K,E638K,G107S,G611R,P592L,R538L,T167N,V226M,V3A" "0,0,0,0,0,0,0,0,0,0,0,0" 83642 4386 sw9747;dbsnp13 DPCD_HUMAN;NP_056263.1 "D21A,L156S,M94L,P71A,P81L,S56R" "0,0,0,0,0,0" 25911 12901 sw9748;spmut1841;dbsnp14564 RUSC1_HUMAN;NP_001098673.1 "D880Y,G638S,L586V,S171A,S362F,S614F,S644C,S831F,V332I,V493A" "0,0,0,0,0,0,0,0,0,0" 23623 2608 sw9749;dbsnp19926 GNL3_HUMAN;NP_055181.3 "E232K,E478G,E501D,G373R,I216K,L80F,N502K,R18Q,R39Q,S308R,S451T,V367M,V495A" "0,0,0,0,0,0,0,0,0,0,0,0,0" 26354 5857 sw974;dbsnp12163 RTN2_HUMAN;NP_005610.1 "F264L,G390S,P310H,R425Q,S367F,T428K" "0,0,0,0,1,0" 6253 5911 sw9750;dbsnp6488 SPA5L_HUMAN;NP_076968.2 "A267V,A572V,E470Q,G176V,G657D,I466M,N592D,P9L,R119P,R252Q,R620Q,R65Q,S333I,S383L,S574L,S576I,Y738C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79029 3586 sw9751 HRC23_HUMAN "L759P,R1119I" "0,0" - 39 sw9752;sws1088;dbsnp22976 RIOK2_HUMAN;NP_060813.2 "E409D,G349R,G488A,H144R,H144Y,L455S,M244V,N397S,N459S,P464L,R133Q,R145K,R155H,R507H,R74W,S96C,T394I,V175I,V217I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55781 5809 sw9753;dbsnp10461 TIM21_HUMAN;NP_054896.2 "G79S,G91A,P234A,P26L,R174H,T51M,V83G" "0,0,0,0,0,0,0" 29090 11949 sw9754 TIPIN_HUMAN "A111G,A267S,L260P,N270D,N270S,R53P" "0,0,0,0,0,0" 54962 10839 sw9755;dbsnp3741;dbsnp3742 T106C_HUMAN;NP_076961.1;NP_001137314.1 "F107L,R80C,S13F,S175F,T149M,T205M,T62A,T62S,V103F,V132L" "0,0,0,0,0,0,0,0,0,0" 79022 11913 sw9756;dbsnp13888 SARG_HUMAN;NP_076427.2 "A189T,D361H,D500A,E5D,E98K,F514S,G68R,K348Q,N157T,N434S,N586S,P286S,P296S,P530L,P87S,R258G,R486H,R527Q,R558C,R94W,S235N,S248F,S444P,T107A,T107P,T107S,T17S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79098 5125 sw9757;dbsnp23851 MAD3_HUMAN;NP_112590.1 "E185K,L4V,Q114H,R188Q,R75Q" "0,0,0,0,0" 83463 12834 sw9758;dbsnp25066 KIFC1_HUMAN;NP_002254.2 "A490V,A58V,G323A,G581R,H370Y,I99L,P322L,Q556L,R210S,R219Q,R273Q,R273W,R289H,R478W,R521C,R5S,S443C,V320A,V647I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3833 4343 sw9759;sws1089;dbsnp5403 CINP_HUMAN;NP_116019.1 "H126R,I34M,L35V,N53K,R164H" "0,0,0,0,0" 51550 12396 sw9760;dbsnp7921 HIRP3_HUMAN;NP_003600.2 "A496V,C86S,D88N,E252D,E334K,E421D,E532D,G521W,K5E,K80R,P378L,P513T,R460Q,S500G,T207A,V490M,V54G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8479 5756 sw9761;dbsnp24299 THIC_HUMAN;NP_005882.2 K211R 0 39 8645 sw9762;dbsnp29828 F127B_HUMAN;NP_001071640.1 S48C 0 26071 14498 sw9763;dbsnp26352;dbsnp26354;dbsnp26355 REPI1_HUMAN;NP_055189.2;NP_001093166.1;NP_037532.2 P88S 0 29803 4862 sw9764;sws1090;dbsnp6489 RPAP1_HUMAN;NP_056355.2 "A1046T,A1048T,A560V,A965V,D505N,E506K,F928L,G1250A,I635T,K1337E,K165M,L343M,L725Q,N192S,P124A,P1277L,P49L,P817L,Q205H,Q20H,Q825E,R1038L,R1038Q,R1108G,R1297H,R137W,R429Q,R47W,R549C,R582G,R588Q,R638Q,R651H,R881H,S19R,S3L,V1253M,V169A,V183M,V320M,Y1211F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26015 991 sw9765;dbsnp7643 PRR14_HUMAN;NP_076936.1 "A208T,G417S,L459F,P359L,P489H,R358W,R361W,R96Q,T397A" "0,0,0,0,0,0,0,0,0" 78994 5336 sw9766;dbsnp18856;hgmd0613_2050 COL11_HUMAN;NP_076932.1 "A194V,G172S,G204S,H219R,R81H,S169P,T64M,V8A" "0,0,1,0,0,1,0,0" 78989 11199 sw9767;spmut352;dbsnp1299;dbsnp1300;dbsnp1301 CHID1_HUMAN;NP_076436.3;NP_001136146.1;NP_001136147.1 "A338V,L62F,P16S,R2Q,R331Q,R331W" "0,0,0,0,0,0" 66005 8212 sw9768;dbsnp17653 CAR10_HUMAN;NP_055365.2 "A328V,A382T,C463Y,I209N,I553V,K514R,R243Q,R243W,R289Q,R368H,R784P,R784Q" "0,0,0,0,0,0,0,0,0,0,0,0" 29775 1973 sw9769;dbsnp18897 NADAP_HUMAN;NP_060628.2 "G28R,K630N,K765T,L53F,L586I,M427I,P139T,P153H,P153L,P17L,Q592P,R181C,R451Q,R631H,S501T,V36L,V42F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 22950 3243 sw976;dbsnp7549 CAD16_HUMAN;NP_004053.1 "A51T,A536V,A549T,E480K,G385R,H257N,H257Y,K19Q,L191F,N160H,P14L,P816L,R339H,R717H,S576G,S690R,T432M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1014 3036 sw9770;sws1092;dbsnp20574 BOC_HUMAN;NP_150279.1 "A43V,C20Y,C344Y,D302N,E396Q,E490V,K883N,P828R,P840L,P840R,P912S,P994S,Q915H,R494W,R502Q,R566L,R812Q,S778G,T272N,T453A,T675I,T743N,V242I,V388I,V861I,Y704S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 91653 1679 sw9771;dbsnp23787 SPAT9_HUMAN;NP_114158.2 "K209E,L102S,R110C,S194P" "0,0,0,0" 83890 11821 sw9772;dbsnp24453 TTLL2_HUMAN;NP_114155.4 "D338G,E134K,G221R,G3R,G424R,G445S,G568R,H135N,H135R,H318R,I356V,K344T,K441T,L202P,M236T,M587T,N388S,P63S,P96L,Q274P,Q529H,R347C,R425G,R4W,R512W,S129F,S530L,T127A,V559I,V91I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83887 5244 sw9773 SCRT1_HUMAN S133A 0 83482 9713 sw9774;dbsnp17606 APOL6_HUMAN;NP_085144.1 "N173K,R132C,R299M,R44G,T129M,T84I,Y172C" "0,0,0,0,0,0,0" 80830 9838 sw9775;dbsnp17484 APOL5_HUMAN;NP_085145.1 "A226T,E81K,G216R,Q389H,S203R,S406C,S89T,T129N,T272M,T323M,V385I" "0,0,0,0,0,0,0,0,0,0,0" 80831 7894 sw9776;dbsnp16529;hgmd0613_2238 GATA5_HUMAN;NP_536721.1 "A266P,F159L,G166S,G184V,G358S,K218T,K363R,L233P,Q3R,S311L,T326A,T67P,V222I" "1,1,0,1,0,1,0,0,0,0,0,0,0" 140628 8646 sw9777;dbsnp16182 SYCP2_HUMAN;NP_055073.2 "A102V,A560T,A770T,C562W,D274E,D678N,D950N,E1492K,E771A,E790Q,H393L,H393R,I1376V,I32T,I32V,I818V,I951T,I999T,K44E,L1146F,M1003T,M482V,N193S,N809S,P1008L,P523L,P866L,Q962R,R1285H,R346K,R594I,S1335P,S363N,S396C,T353K,T391N,T751I,T857A,V1155A,Y812N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10388 793 sw9778;dbsnp3421 TPSNR_HUMAN;NP_060479.3 "A169V,A42V,C39W,D72N,D80N,G151R,G246E,H112L,H47Y,I387T,M146V,P218L,Q259R,Q427L,R31Q,R460H,T165A,T334M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55080 7242 sw9779;spmut669 FANCJ_HUMAN "C832Y,D1148E,P1034L,P919S,Q540L,R419W" "0,0,1,0,0,0" 83990 1282 sw977;dbsnp2439 ZPR1_HUMAN;NP_003895.1 "A264V,A419V,E237K,E421G,F387L,N207K,R430P,R459Q" "0,0,0,0,0,0,0,0" 8882 7411 sw9780;sws1094 SRBS1_HUMAN "L61P,R74W" "0,0" 10580 1176 sw9781;dbsnp23036 CARD6_HUMAN;NP_115976.2 "A110T,A423S,A575D,A648T,C185Y,C315G,C315R,D426V,F255L,G264E,G932R,I10V,I194V,I576V,L496F,L560S,L728V,L839F,M295V,M395K,P894L,Q685E,Q708E,R368Q,R533C,R533H,R807Q,R93K,S265L,S538R,S857L,S86L,T175S,T972A,V239A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84674 1954 sw9783;sws1095;dbsnp11599 ZN471_HUMAN;NP_065864.2 "C292R,C351S,E625K,F333C,G406D,K494R,M192I,P430R,Q309R,S556C,V475L" "0,0,0,0,0,0,0,0,0,0,0" 57573 2780 sw9785;spmut2239;dbsnp23645 TSSK1_HUMAN;NP_114417.1 "A50T,G288W,G293E,H83Y,P296L,R237C,V233L" "0,0,0,0,0,0,0" 83942 9258 sw9786;sws1097;dbsnp10442 SALL3_HUMAN;NP_741996.2 "A411G,A954V,D797N,F1192L,G868W,L1190P,L377P,L593V,P1252H,P1252T,P818L,R1285C,T533A,V853A,V865M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27164 1119 sw9787;dbsnp1981 LGR4_HUMAN;NP_060960.2 "A480V,D844G,G363C,G672A,K660Q,N233S,Q311H,R156Q,R374C,R684G,R817Q,R941S,S215G,T327A,T709M,Y479H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55366 2334 sw9788;dbsnp20400 OSB10_HUMAN;NP_060254.2 "A473T,E468K,F542L,I399V,N254D,P202L,P592S,R228Q,S223L" "0,0,0,0,0,0,0,0,0" 114884 3486 sw978;dbsnp7819 SNN_HUMAN;NP_003489.1 "G88D,G88S,V17I" "0,0,0" 8303 14772 sw9790;spmut843;dbsnp4400 HCAR1_HUMAN;NP_115943.1 "A110V,D253E,D253H,H43Q,L241F,R78S,S172L,T161A" "0,0,0,0,0,0,0,0" 27198 8853 sw9791;dbsnp29883 GP174_HUMAN;NP_115942.1 "M92I,P88H,S162P,V209F" "0,0,0,0" 84636 10073 sw9793;dbsnp17436 CECR2_HUMAN;NP_113601.2 "A792V,D609N,G1293R,G186R,I1434V,L301V,M1141V,M722V,P1246L,P674L,R1197H,R293H,R685H,R764Q,T1114M,T521S,T801A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27443 853 sw9794;dbsnp8616 TEKT3_HUMAN;NP_114104.1 "A59T,E380K,E410D,G282A,K383R,L127M,L237S,Q129K,R183Q,R310C,R3H,R437C,S113Y,T221M,T363M,V296A,V65M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64518 6843 sw9795;dbsnp23214 SPZ1_HUMAN;NP_115956.3 "A180D,D117G,E302K,E9K,H301D,H301P,I330T,M122I,M170I,N82D,V17L" "0,0,0,0,0,0,0,0,0,0,0" 84654 7947 sw9796;dbsnp23421 ORNT2_HUMAN;NP_114153.1 "A118T,A147V,G159C,G216S,M137T,V181G,V226F,V226I,Y64C" "0,0,0,0,0,0,0,0,0" 83884 10827 sw9797;spmut2104;dbsnp17565 TB10A_HUMAN;NP_114143.1 "G229S,H468R,I341M,P355L,R262C,R262S,R376W,R411H,S25I" "0,0,0,0,0,0,0,0,0" 83874 3158 sw979;dbsnp14005;dbsnp14006 LRRN2_HUMAN;NP_963924.1;NP_006329.2 "A108T,A19T,A600V,D110N,E525K,E88Q,G693R,L518V,L650V,P576L,P692S,P7L,R183C,R210W,R532Q,R698K,S511I,S511N,V22M,V659A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10446 3936 sw9801;dbsnp27288 T120A_HUMAN;NP_114131.1 "P70T,Q86R,T201A" "0,0,0" 83862 9839 sw9802;dbsnp17536 B2L13_HUMAN;NP_056182.2 "A191S,A401T,A467V,E265Q,E383K,E430K,H86R,I46R,I46T,I55V,L107R,P360S,R85H,S429N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23786 6918 sw9803;dbsnp8898;hgmd0613_2056 CAR14_HUMAN;NP_077015.2 "A186T,A779T,C756Y,D176H,D285G,D973E,E138A,E142G,E142K,E164K,E422K,G117S,G714S,H171N,I593N,K78N,L150R,L903V,M617T,N237H,N737S,P506L,R179H,R266C,R38C,R400C,R400H,R547S,R597W,R62Q,R682W,R820W,R826G,R826W,R883H,R962Q,R986C,S200I,S200N,T393M,V110A,V191L,V585I,V705I,V774I,Y205H" "0,0,0,0,0,0,1,1,1,0,0,1,0,1,0,0,0,0,0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79092 2093 sw9804;dbsnp26351;hgmd0613_2165 CAR11_HUMAN;NP_115791.3 "A1047T,A581T,A687V,D1152N,E530D,H527Q,I458S,I544L,N191S,R759Q,R967C,S537T,S694L,S881G,T1020M,T669M,T670M,V1009I,V171M,V659M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84433 1542 sw9807;dbsnp4266 CLC7A_HUMAN;NP_922938.1 "I158T,I223S,L183F,M136R,M247L,S161L" "0,0,0,0,0,0" 64581 11977 sw9808;dbsnp30532 SPNXD_HUMAN;NP_115793.1 "D17E,F59L,F59V,G31R,G8C,K3E,K74N,L42I,L80H,L80V,M91T,P64S,V68L,Y32D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64648 14606 sw9809;spmut1462;dbsnp14716 PAPP2_HUMAN;NP_064714.2 "A1527S,D132V,E414Q,G246D,L1217P,L7V,L996M,P1657R,R337H,S1340A,S1432I,S387T,T171S,V347M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60676 567 sw980;dbsnp6872;hgmd0613_1087 SEM7A_HUMAN;NP_003603.1 "E165K,L78P,L97H,R109C,R207Q,R207W,R460H,R461C,R66W,S115T" "0,0,0,0,1,1,1,1,0,0" 8482 4406 sw9810;dbsnp22060;dbsnp22062;dbsnp22063;dbsnp22064 TLR10_HUMAN;NP_001182036.1;NP_112218.2;NP_001017388.1;NP_001182035.1 "A163S,D258E,F438L,G381D,I369L,I473T,I775F,I775L,I775V,K752R,K96R,L167P,L261V,L428P,L59I,L696F,M1V,M326T,N127S,N241H,N330K,R208H,R208L,R235Q,R469G,R489G,R525W,R762C,R799L,R799P,R799Q,S142P,S214P,S801P,V298I,Y736C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81793 3137 sw9811;sws1100;dbsnp14631;hgmd0613_2126 FHR5_HUMAN;NP_110414.1 "C208R,F192L,F481Y,F539V,G145E,G278S,G471E,K144N,L521I,L529R,M514R,P46S,R356H,R555P,S78P,V379L,Y277N,Y279N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,0" 81494 5564 sw9812;dbsnp14419 TMM59_HUMAN;NP_004863.2 "A46V,L254F,T197A,T263I" "0,0,0,0" 9528 10326 sw9813;dbsnp6761 NUSAP_HUMAN;NP_057443.2 "D100G,H45P,S63A,T328I,T33A,T33N" "0,0,0,0,0,0" 51203 7747 sw9814;dbsnp20981 S26A6_HUMAN;NP_075062.2 "D23H,D637N,F481Y,R180Q,V130L,V206M" "0,0,0,0,0,0" 65010 3527 sw9815;dbsnp11999 CCG6_HUMAN;NP_665813.1 "A142V,C252S,L163V,P247T,R127C,R127H,V176I,Y217H" "0,0,0,0,0,0,0,0" 59285 11706 sw9817;dbsnp27355 TEX15_HUMAN;NP_112561.2 "A1340T,A2131T,A2148V,A582T,A724P,A805V,C104R,D1265E,D1513E,D2138N,D546G,D790E,E1306D,E1966K,E2050K,G2680R,G2692R,H2593R,I1035V,I159F,I2052T,I209V,I2290V,I2301M,I2563M,I277V,I672T,K1439R,K2405E,L107V,L1337V,L1383I,L1570V,L2096V,L2493P,L2571V,L2636F,M1123V,N1250S,N1280S,N1311S,N154S,N1609S,N1837S,N1979S,N2032S,N240S,N429Y,P2514S,P383L,P787L,P848R,Q1631H,Q2326K,Q2665H,R1775T,R2767Q,R937Q,S1350L,S1990N,S2111A,S2740F,S30A,S88L,T2181I,T2696K,T398P,T737S,T897A,T948S,V1266I,V1598M,V2122I,V549A,Y2678C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56154 177 sw9818;dbsnp17401 M10L1_HUMAN;NP_061868.1 "A1179E,A131T,A250T,A482S,A840T,D100G,E171K,F259L,F460L,H608R,I454L,M57L,M980I,N803S,P117L,Q1181R,Q820R,R1081H,R1154Q,R164W,R182C,S189C,S683G,T167M,T18S,V331M,V650I,V841I,Y593C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54456 1391 sw9819;dbsnp4976 RNF17_HUMAN;NP_112567.2 "A542S,A573P,D1620Y,E1380K,E1387G,G1191C,G467S,H667R,I1062V,K346N,K877E,M350V,M609L,N1110K,N367S,P361S,P628L,Q31P,S501G,S653T,S864F,T1482I,V382I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56163 708 sw981;dbsnp23026 HMMR_HUMAN;NP_036616.2 "A255V,A484V,D557H,E277D,E476K,E482A,L595I,N305K,N320K,Q547R,R104W,R332H,R580C,R659H,R92C,S128C,S468G,V368A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 3161 3838 sw9820;sws1102;dbsnp26426 STK31_HUMAN;NP_113602.2 "A393T,A489P,A600T,A780T,E261K,E709K,G410E,G915A,H684R,I277K,K1009T,K268N,K836R,L629V,M1007L,M961V,N53S,N621K,Q446R,Q71H,R385C,R522H,S125F,S623I,T1000M,T1010S,T362P,T510I,V966L,Y585C,Y760C,Y760S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56164 2029 sw9822;dbsnp30037 FHL17_HUMAN;NP_114100.1 "A20P,A48V,E148V,H66Q,L121M,Q120H,R77C,R77H,V47M,Y138H" "0,0,0,0,0,0,0,0,0,0" 53940 12082 sw9823;dbsnp10577 OSBL1_HUMAN;NP_542164.2 "A356T,E331K,E486K,I760V,N165K,N927S,Q174R,S597C,S804N,S810P,T290M,T709I,V831I,Y185C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114876 2343 sw9824;dbsnp17697 CECR5_HUMAN;NP_149061.1 "R200C,R369S,R416C,T179M,T374M,V157A,V232I" "0,0,0,0,0,0,0" 27440 8086 sw9826;dbsnp10552 EMIL2_HUMAN;NP_114437.2 "A1016V,A215T,A324D,A324T,C688S,E210G,E598K,G175E,G359R,G364R,I184K,K274R,L1053F,M259V,P136S,P569S,P784S,P827L,P82R,P893L,P903S,R193Q,R224Q,R534W,R574H,S320R,S585P,T243K,W674R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84034 1882 sw9827;dbsnp10443 AN30B_HUMAN;NP_001138501.1 "E1125V,E987K,F477L,G1207V,L962F,N1025D,N1345K,P543S,P852L,Q1265R,Q1272E,Q1305K,R1255G,R1342H,R1361C,R3S,R843C,S610T,S818P,T1052A,T193A,T294M,T736A,V1070G,V375M,V801I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 374860 994 sw9829;dbsnp27721 MAK16_HUMAN;NP_115898.2 "Q277R,R143C,S197N" "0,0,0" 84549 10857 sw982;dbsnp1829 TBX10_HUMAN;NP_005986.2 "A50D,K101T,P97H,P97L,P97R,Q160H,R204H,R354Q,V87I,Y111N" "0,0,0,0,0,0,0,0,0,0" 347853 6737 sw983 CILP1_HUMAN "A895V,D1101N,G1166S,I395T,K575E,Q979R,S327F,V1168A,W59L" "0,0,0,0,0,0,0,0,0" 8483 1469 sw9830;dbsnp4067 CAYP2_HUMAN;NP_115995.2 "C176R,D179Y,D321Y,D404N,G499S,K225N,K436T,L125F,L362F,S552F,T278A,V481L" "0,0,0,0,0,0,0,0,0,0,0,0" 84698 5737 sw9831;dbsnp19101 S4A5_HUMAN;NP_067019.3 "A536V,E1093K,E979K,G792E,H253Y,I390F,I390V,L1022V,L880V,N672K,P823L,R775Q,S251N,V1053I,V1106I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57835 1595 sw9832;dbsnp29043 TSCOT_HUMAN;NP_149040.3 "A366V,D257N,E231Q,G167S,G327A,I353T,P236R,P271L,Q197H,R9Q,V409I,V420M,V459M" "0,0,0,0,0,0,0,0,0,0,0,0,0" 57864 7111 sw9833;dbsnp25476;dbsnp25477 PACN1_HUMAN;NP_065855.1;NP_001186512.1 "A135S,A334V,Y350H" "0,0,0" 29993 6905 sw9834 SCAPE_HUMAN A1138T 0 49855 983 sw9835;dbsnp12140 TX101_HUMAN;NP_001123483.1 "A38V,G99S,G99V,I176T,T103N" "0,0,0,0,0" 83639 11556 sw9836;dbsnp11641 EMR3_HUMAN;NP_115960.2 "A236V,A476T,E127Q,F523C,G633D,I529L,K25E,L323P,L379V,P574L,R166Q,R385Q,R449W,S224N,T125P,V362M,V617I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84658 4571 sw9837;dbsnp2774 M4A8B_HUMAN;NP_113645.1 "F103L,G87S,I89V,P41L,V10G,V57M,V95L" "0,0,0,0,0,0,0" 83661 11914 sw9838;sws1104;dbsnp21170 GPR87_HUMAN;NP_076404.3 "F68L,L214S,L284V,N12H,R350H,T185A,T205K,T205M,V165I,V260G" "0,0,0,0,0,0,0,0,0,0" 53836 9477 sw9839;dbsnp17423 DGC6L_HUMAN;NP_150282.2 "A117V,E127G,N195K,V115L" "0,0,0,0" 85359 12527 sw9840 ZN717_HUMAN T432I 0 100131827 2534 sw9841;dbsnp16160 ITPA_HUMAN;NP_258412.1 "C57Y,E93G,N78S,P32S,P32T" "0,0,0,0,1" 3704 13099 sw9842;dbsnp16149 CT043_HUMAN;NP_057491.2 "E294V,K110R,M171V,P244S,T159A" "0,0,0,0,0" 51507 10732 sw9844;dbsnp20177 EIF2A_HUMAN;NP_114414.2 "D504G,D74N,E582K,G190V,I533T,T65N,T65S,T97S" "0,0,0,0,0,0,0,0" 83939 5337 sw9845;dbsnp18292;hgmd0613_1887 PECR_HUMAN;NP_060911.2 "A58V,E149K,F297L,G202E,M1T,Q207H,R50H,S266G,V169L" "0,0,0,0,0,0,0,0,0" 55825 10798 sw9846;dbsnp22070 UDB28_HUMAN;NP_444267.1 "A162E,A2T,A69T,C227S,C469R,C469S,D361Y,E52G,G310E,G310V,H458D,I148L,I447R,K83E,L365H,L513V,V442L,V508I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54490 6125 sw9847 KDM5D_HUMAN V1186L 0 8284 769 sw985 GCYB2_HUMAN "M128I,N316H,Y55C" "0,0,0" - 4943 sw9850 MFRP_HUMAN Q514H 0 83552 5422 sw9851;dbsnp3900 DUS16_HUMAN;NP_085143.1 "C341Y,D542A,G574R,K297Q,K52R,S486L,T23M,V363M,V366M,V509M" "0,0,0,0,0,0,0,0,0,0" 80824 4426 sw9852 SHAN3_HUMAN "A198G,A224T,A721T,G1011V,H494Q,I1556V,I245T,P1135H,P1655T,R1299K,R12C,R300C,R537W,S953T,V1334G" "0,0,0,0,0,0,0,0,0,0,0,0,1,0,0" 85358 591 sw9853;sws1105;dbsnp17480;hgmd0613_2223 GNB1L_HUMAN;NP_443730.1 "A25V,A59V,C70R,E30K,M212T,R326C,R37H,R57Q,T284M,T2M,V290L,V290M,W239G" "0,0,0,0,0,0,0,0,0,0,0,1,0" 54584 10221 sw9854;dbsnp12956 SCOT2_HUMAN;NP_071403.1 "A516V,D239E,D267G,D494N,E250D,E480G,F197L,I203V,L285R,L38P,M438I,P456L,P507S,T241M,T499M,T58S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64064 6288 sw9856;dbsnp12868 RM09_HUMAN;NP_113608.1 "E210A,E67G,E95K,G109D,I213V,K61M,K87N,M260V,T224M" "0,0,0,0,0,0,0,0,0" 65005 11546 sw9857;dbsnp21865 RM01_HUMAN;NP_064621.3 "A4G,D229H,E81K,F177S,G56V,P93R,Q119R,T47K" "0,0,0,0,0,0,0,0" 65008 10274 sw9858;dbsnp20278 ACTT3_HUMAN;NP_115876.3 "E234K,K360E,L251V,M133T,P329L,Q117L,R309W,R43H,S335P" "0,0,0,0,0,0,0,0,0" 84517 9169 sw9860;dbsnp13028 LCE3D_HUMAN;NP_115952.1 "G42E,G43V,G74V,G81V,Q4K,Q8K,R65C,S82C" "0,0,0,0,0,0,0,0" 84648 14422 sw9861;sws1106;dbsnp23088;dbsnp23089 CDHR2_HUMAN;NP_060145.3;NP_001165447.1 "A121T,A415G,A721T,A721V,A840T,A896T,C356G,E366K,E367D,E442K,E672K,E789K,G295A,G543S,G564R,G787W,I297S,I97V,L1164M,L576V,L6P,L766P,M212I,M465L,N689S,P481L,Q107H,Q53K,Q551R,R660C,R745Q,R759Q,R759W,R946W,S141N,S281F,T1128M,T557M,T724M,T901M,V1166I,V1282M,V15M,V424A,V457I,V486I,V773I,V794I,V948M,V99A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54825 1149 sw9862;spmut36;dbsnp29915 ACE2_HUMAN;NP_068576.1 "D597E,D630H,E37K,G211R,H378R,K26R,K341R,L731F,N638S,N720D,R716C,S19P,S692P,W459C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 59272 3176 sw9863;spmut1242;dbsnp18983 MK67I_HUMAN;NP_115766.3 "D57N,E163K,E92K,I33V,L14F,P144Q,R164G,R211C,R211H,R73Q,S290R,V49M" "0,0,0,0,0,0,0,0,0,0,0,0" 84365 11024 sw9865;dbsnp27691 GSDMC_HUMAN;NP_113603.1 "A252S,A253E,A331T,D371N,D412N,D54N,E196K,G96C,M359R,M475T,M4R,N63S,P23S,P441L,P491L,R149W,R150K,R46C,S197N,V337D,Y343C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 56169 6513 sw9866;dbsnp17313 SE6L1_HUMAN;NP_066938.2 "A139T,A192G,E424K,G43R,G954A,G954V,M430I,N394S,N956S,P115R,P52L,Q671H,R541H,T381N,T482M,V638G,W185L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23544 2007 sw9867;dbsnp20580 IKBZ_HUMAN;NP_113607.1 "G102A,L545P,P316R,Q236K,Q365L,R610H,R610L,S162G,S58L,T307S,V422G" "0,0,0,0,0,0,0,0,0,0,0" 64332 3895 sw9869;dbsnp21762 FGFP2_HUMAN;NP_114156.1 "F84L,G135V,G193R,G55R,P90S,R101H,R180P,R180Q,R60H,S28N,W207G" "0,0,0,0,0,0,0,0,0,0,0" 83888 12479 sw986;spmut2362;dbsnp10555 VPS4B_HUMAN;NP_004860.2 "I58M,L14V,L376F,L381V,S385P,T360I" "0,0,0,0,0,0" 9525 7691 sw9871;dbsnp2053;dbsnp2054 TRI34_HUMAN;NP_067629.2;NP_001003827.1 "C381Y,D282H,E139D,E142D,F216S,I400M,M269I,N404K,P330T,S425Y,T212M,T276S" "0,0,0,0,0,0,0,0,0,0,0,0" 53840 2945 sw9872;dbsnp16070 PR285_HUMAN;NP_001032412.2 "A1520T,A1646V,A1992G,A284V,A502T,D1060E,D2571N,E1201K,E1463G,E2416K,E929K,G1245S,G1589D,G1981R,G2405D,H1123R,H1570R,H1583Q,L1821R,N2398K,N428K,P2016L,P2274L,P2293T,P2453L,P321L,P426L,P531L,Q2049E,Q2630R,R1190H,R1249C,R1360Q,R1381K,R1422Q,R1444C,R1454C,R1611C,R1636H,R1755W,R1796Q,R1988L,R2023H,R2055H,R2059W,R2393Q,R240C,R2640C,R2640H,R276H,R517C,R584W,R710W,R79C,R959W,R960C,S1152L,S338L,S735N,S754L,S788N,T1546M,T1764M,T1889A,T1904M,T1978M,T2170M,T2566A,T429M,V1308L,V1449M,V1486I,V1574M,V2159A,V2520I,V2641I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85441 200 sw9873;sws1107;spmut2372;dbsnp30367 WNK3_HUMAN;NP_065973.2 "A1713G,A998T,E1501K,I833V,I946T,K1169E,P1694L,P659L,Q704H,R507S,S980F,T1375I,T981S,V848I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65267 561 sw9874 KRA99_HUMAN "C56S,P36S" "0,0" 81870 11919 sw9875;dbsnp8922 KRA94_HUMAN;NP_149461.2 "F152S,G87W,N124S,P36S,R53H,S146Y,T65I" "0,0,0,0,0,0,0" 85280 11919 sw9876;dbsnp9364 KRA92_HUMAN;NP_114167.2 "A41S,C149R,C23S,C56S,C8G,N139S,P36S,P84T,R15K,T65A,T65P,T70I,V72L" "0,0,0,0,0,0,0,0,0,0,0,0,0" 83899 11919 sw9877 KRA41_HUMAN "A134T,H66R,S115R" "0,0,0" 85285 12748 sw9878 KRA47_HUMAN "D18V,S168C,S16G,T68S" "0,0,0,0" 100996750 12748 sw9879;dbsnp8624 KRA45_HUMAN;NP_149445.3 "C125Y,C6R,R122H,R22C,R22H,R67H,R77L,V147M" "0,0,0,0,0,0,0,0" 85289 12748 sw988 ENTP6_HUMAN "K202E,L138V" "0,0" 955 6929 sw9880;dbsnp8638 KRA44_HUMAN;NP_115913.1 "C35S,C40F,C5F,H62Y,P123L,Q109R,Q27K,Q27R,R102C,R154S,S68F,T139I,Y25C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 84616 12748 sw9881;dbsnp8647 KRA43_HUMAN;NP_149443.1 "P122S,P142T,P152S,Q126K,Q126R,Q31L,Q31R,R101H,R96K,R96M,S103T,V2F" "0,0,0,0,0,0,0,0,0,0,0,0" 85290 12748 sw9882 KRA42_HUMAN Y95C 0 85291 12748 sw9883;dbsnp9182 KRA32_HUMAN;NP_114165.1 "I46T,P53L,R27C,R27H,R7C,S8G" "0,0,0,0,0,0" 83897 14680 sw9884;dbsnp21000 LRRC2_HUMAN;NP_078788.2 "A145E,I10L,L117M,P318L,R335L,R337C,R74Q,T83A,V32A,V62I,V7A,Y178S" "0,0,0,0,0,0,0,0,0,0,0,0" 79442 9186 sw9885 S17A9_HUMAN "N228S,T397M" "0,0" 63910 7842 sw9886;sws1108;dbsnp2074 STK33_HUMAN;NP_112168.1 "A437T,A458E,D436E,E98D,I112F,I112V,I295V,K60E,L514P,Q429P,R318H" "0,0,0,0,0,0,0,0,0,0,0" 65975 6408 sw9887;dbsnp23308 NEUL_HUMAN;NP_065777.1 "G140V,G79S,I579M,I80T,K127E,K372R,L686F,M408I,P33A,P704S,R465Q,S137N,S323G,S417G,V315I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 57486 4044 sw9888;dbsnp2497;hgmd0613_2138 ANO3_HUMAN;NP_113606.2 "G239R,L781V,S55F,Y235C" "0,0,0,0" 63982 2178 sw9889;sws1109;dbsnp11744 PBX4_HUMAN;NP_079521.1 "D75V,M177V,R215Q,S67R,T154M,V169I" "0,0,0,0,0,0" 80714 7886 sw9890;dbsnp22964;hgmd0613_2147 AGT2_HUMAN;NP_114106.1 "E424V,G132R,G62V,M442I,P492R,R133C,R133H,R242Q,R311Q,R482C,S102I,S102N,S102T,T212I,V397L,V428A,V431I,V498L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 64902 6409 sw9891;dbsnp27782 TRI55_HUMAN;NP_908973.1 "A489V,D120Y,E140K,E340V,E464K,F441C,F538V,K343I,K343R,K343T,P60L,R235Q,R451W,T450I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 84675 5871 sw9892 BCDO2_HUMAN "I548L,L231P" "0,0" 83875 5431 sw9893;dbsnp26601;hgmd0613_1901 CEP41_HUMAN;NP_061188.1 "A107G,A354P,C240G,I7T,M36T,P206A,Q89E,R179H,R242H,R286Q,R360C,S337P,S355R" "0,0,1,0,1,1,1,1,0,0,1,0,0" 95681 9139 sw9894;dbsnp25351;dbsnp25352 BACH2_HUMAN;NP_068585.1;NP_001164265.1 "A195T,A418T,A437T,A479T,A747V,E157K,E806D,G415E,I579V,L291V,Q552H,R111H,R151P,R311W" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 60468 2951 sw9896;spmut1906;dbsnp20598 SETD2_HUMAN;NP_054878.5 "A1868D,A50T,A848V,D1354N,E902Q,G1967D,I1398T,I2295M,K629E,K772E,L222I,L760P,M1080I,M1889T,N2058S,N719D,P1141L,P167L,P186L,P193L,P1962L,P2057S,P751T,R402Q,R471K,R541Q,R976G,S112L,S1940G,T1033A,T1077A,T1951A,T2037A,T2354A,T592K,T773A,T928R,V267I,V768L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 29072 223 sw9899;dbsnp6692 LDH6B_HUMAN;NP_149972.1 "A83D,A98V,D262E,E274K,E56K,G146S,I326T,K204R,K65N,L338F,L352F,M82L,P259S,P30L,R161Q,R206H,R220C,S118N,T77I,T77S,V14M,V163A,V253M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 92483 8956 sw989;spmut602;dbsnp20086 ENTP3_HUMAN;NP_001239.2 "A496V,E440D,F493I,G435S,L285P,L408P,L505F,P288L,R264Q,R264W,R419H,S295T,T215M,T253M,T69A,V230M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 956 6144 sw98;dbsnp20751 5HT3E_HUMAN;NP_001243542.1 F6S 0 285242 6973 sw9900;dbsnp14975;dbsnp14976 REG4_HUMAN;NP_114433.1;NP_001152824.1 "A130V,E57K,F152L,M112I,N135H,Q106R,W118L" "0,0,0,0,0,0,0" 83998 13768 sw9901;sws1110;dbsnp16081 ADA33_HUMAN;NP_079496.1 "A305V,A365S,C739G,D441E,D742Y,L612H,M590V,M764T,N109S,P336S,P774S,P798L,Q801K,R156Q,R266W,R652H,S614T,T111K,T111M,T178A,T272M,T629I,T701N,V316I,V464M,V710I,W515R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80332 3124 sw9902 ANR60_HUMAN R295C 0 140731 9793 sw9904;dbsnp5158 DOCK9_HUMAN;NP_056111.1 "A1125V,A1192T,A435V,A455T,H703P,I1050V,K1416E,R18W" "0,0,0,0,0,0,0,0" 23348 387 sw9906;dbsnp4309 PITM2_HUMAN;NP_065896.1 "E1051D,G1050S,G447S,L661M,P9L,R1274C,V590M,V646I,W916G" "0,0,0,0,0,0,0,0,0" 57605 1067 sw9907;dbsnp28570 CNTP3_HUMAN;NP_387504.2 "A1208V,A628S,A660S,E581K,E775K,E999G,F212L,G410S,G714V,H330N,K290R,L1044V,M1041I,N1136S,N998S,R598Q,R845H,S505R,S711Y,T282M,Y991C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79937 1153 sw9908;dbsnp27340 NSD3_HUMAN;NP_075447.1 "A41T,R383P,R538K,S754L,T186M,T556A,T556M,V867I" "0,0,0,0,0,0,0,0" 54904 922 sw9909;sws1111;dbsnp29791 PC11X_HUMAN;NP_116750.1 "A1124P,G1047E,I1031N,L1120P,L4F,M34I,M491T,N679K,N754S,P1213L,R1018Q,R1269H,R93H,S1335F,V896A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27328 1072 sw990;dbsnp5956 ENTP5_HUMAN;NP_001240.1 "A45T,K314R,L48S,N42S,Q96R,S44T,T216I,T410M" "0,0,0,0,0,0,0,0" 957 7979 sw991 PROP1_HUMAN N20S 0 5626 12406 sw9910;dbsnp30820 PC11Y_HUMAN;NP_116755.1 "A1320T,E532K,M518T,N1012K,T92A,V47A,V917F" "0,0,0,0,0,0,0" 83259 1072 sw9911;dbsnp10505 CELF4_HUMAN;NP_064565.1 "A435D,F251Y,G388S,V338M" "0,0,0,0" 56853 6904 sw9912 ABCA2_HUMAN "F674V,H583P" "0,0" 20 256 sw9914;dbsnp14529;dbsnp14530 NUF2_HUMAN;NP_663735.2;NP_113611.2 "A158T,R390Q,S229L,S239R,V73A" "0,0,0,0,0" 83540 7327 sw9915;dbsnp2638 TMG4_HUMAN;NP_076986.1 "A31V,C143R,C150R,E33K,L73P,M115T,M221V,P176Q,S151T,S151Y" "0,0,0,0,0,0,0,0,0,0" 79056 12418 sw9916;dbsnp29665 TMG3_HUMAN;NP_076987.3 "A108V,A229T,L180F,N153S,P155L,R124C,R163Q,R170L,R170W" "0,0,0,0,0,0,0,0,0" 79057 12309 sw9917;dbsnp7805 GLIS2_HUMAN;NP_115964.2 "A75S,D80V,G139R,P420L,T492A,V169M" "0,0,0,0,0,0" 84662 6226 sw9918;dbsnp12919 RM37_HUMAN;NP_057575.2 "C366S,I147T,K127R,L322V,L336F,P53L,P53S,R326Q,Y82C" "0,0,0,0,0,0,0,0,0" 51253 8087 sw9919 PUS3_HUMAN "A46S,E460D,Y3D" "0,0,0" 83480 6986 sw9920;dbsnp17751 EVG1_HUMAN;NP_115950.3 "C30S,M136L,P27L,R139W,R185Q,R48C,R48L,T217I,T29N,Y106N" "0,0,0,0,0,0,0,0,0,0" 84645 12591 sw9921;dbsnp9319 ASPC1_HUMAN;NP_076988.1 D487E 0 79058 4621 sw9922;dbsnp9311 OSBL7_HUMAN;NP_665741.1 "A169E,G472R,L215I,M148I,P715Q,Q387K,R141C,R181W,R325Q,R98L,R98Q,T156I,T506S,T714M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114881 2943 sw9925;dbsnp10081;dbsnp10087 RAB34_HUMAN;NP_001243206.1;NP_114140.4 "R232C,V197L" "0,0" 83871 10064 sw9926;dbsnp8816 DPH1_HUMAN;NP_001374.3 "A34D,A7V,I51M,K226R,N57S,P249R,Q46K,R314Q,S389R,T162I" "1,1,0,0,0,0,0,0,1,0" 1801 7708 sw9928;dbsnp16263 CRNL1_HUMAN;NP_057736.4 "C91Y,D844N,F51L,G35R,H100Y,M285R,M285T,N234D,Q111H,Q120K,R52W,R92P,S83T,T158A,V403M,V843I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51340 2907 sw9929;dbsnp7455 TRYD_HUMAN;NP_036349.1 "A127V,A197V,D214N,D225H,G206D,G229S,G59D,L70F,P110L,P158L,P179T,P22L,P22R,R58H,T36M,V138L,V138M,V25A,V83L,V83M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23430 11364 sw992;sws109;dbsnp16303 ZN217_HUMAN;NP_006517.1 "A363V,A886T,C697R,C999G,D889G,D889V,E349K,E914D,K777Q,M410V,P781L,P915S,Q794R,Q931E,R903Q,S769P,S820F,S869P,T43N,T548I,V739I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 7764 1904 sw9930;dbsnp8889 S2539_HUMAN;NP_001137252.1 "A330V,A95V,F247L,S254F,T130I" "0,0,0,0,0" 51629 9454 sw9931;dbsnp25418;dbsnp25419 GPR63_HUMAN;NP_001137429.1;NP_110411.1 "I375V,V21M,Y193F" "0,0,0" 81491 8175 sw9932;dbsnp19957 GPR62_HUMAN;NP_543141.3 "H216R,L367V,S365R,T151P,V313A,V313L" "0,0,0,0,0,0" 118442 9233 sw9933;dbsnp12135 PP12C_HUMAN;NP_060077.1 "A162T,M179L,N514D,P507L,R190Q,R363C,R419C,R646L,R760H,S143T,S306T" "0,0,0,0,0,0,0,0,0,0,0" 54776 3340 sw9934;sws1113;spmut1078 KPCD2_HUMAN "A496V,V835A,W773R" "0,0,0" 25865 2542 sw9935 GSX2_HUMAN G107S 0 170825 10780 sw9936;dbsnp25016 N2DL1_HUMAN;NP_079494.1 "G26E,H31R,L101I,L149F,N144S,R176K,S43F,V97M,W49G" "0,0,0,0,0,0,0,0,0" 80329 10037 sw9937;spmut351;dbsnp13678 CHIA_HUMAN;NP_970615.2 "A283V,A288V,A295T,A32D,A32V,A398T,A476T,D47N,E297K,F354S,F377L,G102R,G317E,G416R,G463R,I339V,K125R,K384R,L241V,N278D,N459K,N45D,P439R,R61M,S411N,T67S,V324G,V432G,W333R" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27159 7082 sw9939;dbsnp14338 EDEM3_HUMAN;NP_079467.3 "H454Q,I820S,P192L,P746S,S2R,S822L,W903L" "0,0,0,0,0,0,0" 80267 2420 sw993;dbsnp16053 BCAS1_HUMAN;NP_003648.2 "A257V,A423T,A84S,E420K,E497G,G255E,G32A,L97F,N3D,Q24K,Q472H,R549Q,S583P,T171M,T309M,T56M,T67M,V163A,V163F,V352M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8537 5346 sw9940;dbsnp14714 NIBAN_HUMAN;NP_443198.1 "A39T,A5P,A66V,A871S,D692N,D761N,D849E,E465K,E814G,F171L,G830S,I432T,K160E,L609P,L609Q,L609R,N379H,P645L,P901S,R221Q,R419H,R426H,R887H,S577G,S577N,S633L,S766N,S856N,T308M,T689N,V537F,V537I,V720M,V93L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 116496 2445 sw9942;dbsnp11145 UBXN6_HUMAN;NP_079517.1 "A31P,A31T,A361V,A413G,A421V,E432Q,G129A,G129V,I221T,L395W,P425L,R195Q,R302P,S427C,V266M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80700 7748 sw9944;dbsnp19994;hgmd0613_1798 IMPG2_HUMAN;NP_057331.2 "A997T,E752Q,F124L,I528V,I545M,K344N,N384S,N415D,P1013L,P1147S,P499T,Q1017R,R131H,R390H,S11Y,S199G,T674I,Y560F" "0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 50939 1308 sw9945;dbsnp26178 S13A1_HUMAN;NP_071889.2 "A151E,A151V,F42L,G189A,I392T,K425E,N174S,P469S,Q157E,R237C,R272C,R277H,T240M,V332A,V44I,Y205C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6561 5198 sw9946;dbsnp12254 TM6S2_HUMAN;NP_001001524.2 "E167K,G307D,L156P,N139K" "0,0,0,0" 53345 9044 sw9947;dbsnp6365 TM6S1_HUMAN;NP_075379.2 "I17T,L48R,P59S,R166Q,R51C" "0,0,0,0,0" 53346 9044 sw9948;dbsnp14580 CD244_HUMAN;NP_001160135.1 "E127Q,G292A,I234V,I9V,L2R,L363R,N89D,P36S,R360C,S323F" "0,0,0,0,0,0,0,0,0,0" 51744 9196 sw9949;dbsnp24540 TRI31_HUMAN;NP_008959.3 "A279G,C48R,D300V,E421K,E421Q,F6L,G348E,H283Q,K236R,L235P,M101I,M1V,M317T,N127D,P17R,Q245R,R118C,R72W,S339T,T287A,V232I,V60I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 11074 8041 sw9950;dbsnp16082 SN_HUMAN;NP_075556.1 "A1321P,A1321T,A1490T,A1519P,A702D,A974V,C1511Y,E1677K,E1677Q,G1438R,G195S,G2S,G310S,G808S,H1381N,H1510Y,H919P,K239R,M1508L,N1251S,N1297D,N92K,R1098Q,R1257W,R1487W,R282C,R464H,R475C,R633K,R733W,R798C,S1215L,S1335Y,S248L,S64L,S73L,S839N,T1388K,V141L,V1424I,V221M,V665F,W59L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 6614 631 sw9951 API5_HUMAN "G493S,M300V,P276S" "0,0,0" 8539 6227 sw9953;dbsnp24460 FOXQ1_HUMAN;NP_150285.3 "E338G,Q61P,T60P" "0,0,0" 94234 8523 sw9954;dbsnp24454 TRI15_HUMAN;NP_150232.2 "A42T,D146E,E370D,E84Q,H429Q,I162V,I29V,K8E,L235V,P109L,P109S,R184Q,R215Q,S132G,S324N,T139M,V415L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 89870 7300 sw9955;dbsnp5665 TRIM9_HUMAN;NP_055978.4 "D613E,D652N,G283R,L653F,P421S,V338I" "0,0,0,0,0,0" 114088 3334 sw9956;dbsnp23017 TRIM7_HUMAN;NP_976038.1 "A18S,A218T,A225T,F226S,F285C,G363S,H376P,P73S,Q95E,R233Q,R385H,S267R,S304F,V258A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 81786 6454 sw9957;dbsnp2813 TRIM6_HUMAN;NP_477514.1 "C290F,E142D,E154K,H339R,L305M,Q189H,R324G,R484C,R485C,R80W,S27C,S27I" "0,0,0,0,0,0,0,0,0,0,0,0" 117854 2945 sw9958;spmut2216;dbsnp2049 TRIM5_HUMAN;NP_149023.2 "C467S,C58Y,D436E,G110E,G249D,G31S,H419Y,H43Y,I461L,P479L,R119Q,R119W,R136Q,R238W,R71W,S470P,V112F,V140L,V320M,V83A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85363 2945 sw9959;dbsnp26729 TRIM4_HUMAN;NP_148977.2 "D413N,K299T,P367S,Q278H,R478C,R95Q,S474C,T201M,V271E" "0,0,0,0,0,0,0,0,0" 89122 6670 sw995;spmut186;dbsnp3668 AVIL_HUMAN;NP_006567.3 "A120T,D41N,G299R,I21T,I250V,I659T,I77T,K204E,L747F,N36S,P322S,R135Q,R184H,R199Q,R94Q,W400C,Y758C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10677 3049 sw9960 NKX62_HUMAN V209A 0 84504 9265 sw9961;dbsnp8556 K1C23_HUMAN;NP_056330.3 "A41S,D300N,D300Y,E312Q,E317K,E378D,G39W,N140S,R200K,S393F,T303A,T307M,T370M,V34I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25984 8109 sw9962;dbsnp18214 IN80B_HUMAN;NP_112578.2 "G113R,G8R,L332F,M341V,P191S,W152G" "0,0,0,0,0,0" 83444 9519 sw9963;dbsnp23301 SPEF2_HUMAN;NP_079143.3 "A540V,A904V,A934P,A999T,D500N,D842N,E116K,E1708D,E655G,G74S,H460R,H83R,I709M,K1482N,K407R,K867Q,M1267L,M1721T,N616K,N71H,P974L,Q275R,R1536Q,R201G,R312W,R366K,R421H,R447Q,S133N,S1737F,Y1416C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79925 546 sw9964;sws1114;dbsnp20955 DCLK3_HUMAN;NP_208382.1 "C462Y,E633D,I566F,R24Q,R288C,R360Q,S133L,S202G" "0,0,0,0,0,0,0,0" 85443 4606 sw9965;dbsnp27630 LRCC1_HUMAN;NP_208325.3 "C90Y,H69Q,K613N,L137F,L780P,R905W,T210A" "0,0,0,0,0,0,0" 85444 1974 sw9966;dbsnp7730 CNTP4_HUMAN;NP_207837.2 "A239G,A476T,A596V,D1155E,D1189G,D1227N,E161K,E483Q,F501Y,G418R,G418S,G534R,G68S,H54Y,I836F,K211E,L276V,L528M,N1300S,N260S,N648T,Q198K,Q350E,Q513H,Q543R,Q786R,R1145K,R156H,R743Q,S1140C,S265N,S455F,T214S,T578A,V1010M,Y380C,Y380F" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85445 1153 sw9967;dbsnp20827 SETD5_HUMAN;NP_001073986.1 "A638T,D678E,E516K,G1114D,G951E,M1137V,N105T,R119I,R767C,R769S,R77H,T1308I,T1308R,T1372I,T1372N,V482A,Y885H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55209 914 sw9969;dbsnp14091 K1751_HUMAN;NP_001073953.1 "A323E,A83T,E370K,G628C,I363V,K378R,K394N,L234F,P441R,R218Q,R365Q,R753G,S50I,T194R,T412M,T636M,V432I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85452 3504 sw9970;dbsnp13929 FAM5B_HUMAN;NP_066988.1 "A218T,G539S,I313T,L390V,P14L,R271C,R271H,R476C,R476H,V289I,V566M,Y71C" "0,0,0,0,0,0,0,0,0,0,0,0" 57795 3331 sw9971;dbsnp10587 ZCHC2_HUMAN;NP_060212.4 "K589E,N518S,P1004L,P959L,T721A,T941A" "0,0,0,0,0,0" 54877 1487 sw9972;dbsnp2163 TB182_HUMAN;NP_203754.2 "A100P,A1349V,A945G,A972T,D1343N,D248N,E477K,E674K,F464S,G1026C,G1221R,G1377V,G32S,G556S,G770R,G816A,H1365R,H1605R,I1126N,K777T,K848R,P1426S,P339R,P372A,P604S,P630T,P96S,Q1097R,R1018Q,R155H,R1661H,R1665C,R181H,R233Q,R233W,R35W,R402Q,R419C,R427Q,R491Q,S1051N,S1416L,S1516N,S714N,T322S,T979M,V1626A,V1626E,V489M,V517I,Y1122S,Y590D" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85456 609 sw9973;dbsnp5457 K1737_HUMAN;NP_219494.2 "A85T,L31F,P381R,T203A" "0,0,0,0" 85457 8604 sw9974;dbsnp9166 UBE2O_HUMAN;NP_071349.3 "A1150T,A1223T,G1207S,N870S,P670S,R408W,R512H,S937L,T1113S,V1162L,V885L" "0,0,0,0,0,0,0,0,0,0,0" 63893 1177 sw9975;dbsnp25288;dbsnp25289 PHAR1_HUMAN;NP_112210.1;NP_001229577.1 "I247M,R118K" "0,0" 221692 5408 sw9976;dbsnp1957 K1731_HUMAN;NP_203753.1 "A1270G,A1939T,A488V,A499E,C614G,D2103E,D625E,E1026K,E179K,E1847D,E2173A,E238Q,E2423Q,E2437V,F755I,F888S,G1441E,H1403Y,I1141T,I1522L,I2404V,K1594Q,K1649T,L1343P,L1459R,L1731M,L358I,M1603T,N2053Y,N2101S,N2559S,N656S,P1685H,P620S,Q1285K,Q1629E,Q2203H,Q602E,Q808E,Q80K,R1580H,R1878Q,R208Q,R2550K,R694S,S1667N,S2091P,S440F,T2124I,T2149A,T2149S,T2591R,T864S,V1449I,V2026L" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85459 214 sw9977;dbsnp22183 Z518B_HUMAN;NP_444270.2 "A761S,A819V,E515K,G16R,G234R,G262A,G410R,G92S,H266Q,I205V,I903L,I916V,K558Q,N116K,N247S,N354S,N503K,N560S,N625I,N838D,P728L,Q253H,R690H,S105P,S523N,S635A,S720Y,V416I,V85I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85460 1806 sw9978;dbsnp18753 TANC1_HUMAN;NP_203752.2 "A410T,A537T,A684V,A761V,G1511S,G1568V,H1825Y,K1176R,L548I,L70M,N251S,P133L,P30S,Q1290R,R1321Q,S471R,S734C,T1573A,T930A,V728M,V992M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85461 429 sw9979;dbsnp22046 FHDC1_HUMAN;NP_203751.2 "A1111D,A172T,A619E,C49Y,C779W,D231N,D465H,D465N,E1028Q,G750R,G847S,L515M,P37L,P726A,R190G,R393Q,R485H,R537H,R573W,R639C,R646Q,S1042A,S1083G,S486C,S605L,S632F,S734C,S809Y,T104I,T82A,T854I,V232M,V642I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 85462 1571 sw997;dbsnp11706 ZN737_HUMAN;NP_001152765.1 "C78G,C78S,K314R,K500E,K507R,K516E,K67R,K92N,N134D,R492C,R498G,T274A,V125L,V9M,Y397H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 100129842 4652 sw9980;dbsnp5127 XPO4_HUMAN;NP_071904.4 "I899L,N149S,T451A" "0,0,0" 64328 1550 sw9981;dbsnp10432 ASXL3_HUMAN;NP_085135.1 "A1574V,E1310A,H470P,I1346V,K361N,K791R,M1415R,M1415V,M1708V,N954S,R1606Q,R989G,V1652M,V653I,V911M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80816 316 sw9982;dbsnp22096 CEP44_HUMAN;NP_001035247.1 "G147S,I175T,I186V,K119Q,L285V,M117T,R11Q,R176H,R72C,R82H" "0,0,0,0,0,0,0,0,0,0" 80817 8615 sw9983;dbsnp10329;hgmd0613_1843 ZN407_HUMAN;NP_060227.2 "A1913T,A2052T,E343K,G512R,L369F,N69S,N972T,P508L,Q1114R,S1259L,S61G,V143F" "0,0,0,0,0,0,0,0,0,0,0,0" 55628 317 sw9984;dbsnp22277 F190A_HUMAN;NP_001138537.1 "E133Q,G382S,I672V,L349I,P477S,R7K,V734A" "0,0,0,0,0,0,0" 401145 2616 sw9985;dbsnp402;dbsnp403 LRC27_HUMAN;NP_001137229.1;NP_085129.1 "A209V,A217T,A496V,D239G,I441T,K427T,N143D,P181R,P233L,P31L,P386L,P459L,Q457P,R166H,R195C,R387Q,R449H,R495Q,T138M,T284M,V189I,V273M,V277I,V445I,Y520C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 80313 6132 sw9986;dbsnp3403 B3GN4_HUMAN;NP_110392.1 "H271R,L87P,P6A,R248H,R268G,R289L,R289Q,R290H,R314K,R350H,R72H,R92H,S83T,V156L,V228M,W357G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 79369 9023 sw9987;dbsnp18986 WDR33_HUMAN;NP_060853.3 "A33S,D1017H,G795V,I82V,M784V,P1040L,P1074L,P574L,P711R,P839A" "0,0,0,0,0,0,0,0,0,0" 55339 1094 sw9989;sws1116;dbsnp5942 BC11B_HUMAN;NP_612808.1 "A700V,E32V,G83S,P229S,P98L,Q609H" "0,1,0,1,0,0" 64919 2644 sw998;spmut1513;dbsnp14420 PEX14_HUMAN;NP_004556.1 "A117S,A150S,A192G,L134V,N201S,P10R,Q125H,R320K,S158R,S70A,V159M,V173F,V173I,V256M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5195 9032 sw9990;dbsnp22284;dbsnp22286 S39A8_HUMAN;NP_001128618.1;NP_071437.3 "A391T,G4R,L449F,N389S,P249A" "0,0,0,0,0" 64116 7699 sw9991;sws1117;dbsnp19275 STRAB_HUMAN;NP_061041.2 "C180W,N54T,P386L,T36A" "0,0,0,0" 55437 8206 sw9992 2B1E_HUMAN "G74R,L56M,Y76F" "0,0,0" 3123 11408 sw9993;dbsnp25094 OR2B2_HUMAN;NP_149046.2 "A183P,A300S,I289M,I39T,M273V,M81I,Q234R,R270Q,S217L,S76G,T77P,Y348F" "0,0,0,0,0,0,0,0,0,0,0,0" 81697 9497 sw9994;dbsnp25277 OR2H1_HUMAN;NP_112145.1 "D63N,K270N,L142P,L299F,L37P,L80P,M149I,M57I,P263L,P281R,Q266H,R137C,R137S,R184Q,S160P,S5I,T161I,T219I,V223M,V2G,V48L,W147R,Y130H,Y192S" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 26716 9497 sw9995 OR2J1_HUMAN L14I 0 442185 9497 sw9996;dbsnp25075 O11A1_HUMAN;NP_039225.1 "A165T,M80T,V223L,Y121C" "0,0,0,0" 26531 10534 sw9997;dbsnp19251 WDR12_HUMAN;NP_060726.3 "D32N,E286G,F300L,F61L,I75V,K42R,M72V,Q60R,Y89C" "0,0,0,0,0,0,0,0,0" 55759 8088 sw9998;dbsnp24733 YIPF3_HUMAN;NP_056203.2 "A342T,A5V,F245L,L326F,M36T" "0,0,0,0,0" 25844 9660 sw9999;dbsnp1987 OR8D2_HUMAN;NP_001002918.1 "H244Q,I279V,L292P,M268V,P21S,P263L,R122H,R20C" "0,0,0,0,0,0,0,0" 283160 9775 sw999;dbsnp1974;dbsnp1975;dbsnp1976 TRIM3_HUMAN;NP_006449.2;NP_150594.2;NP_001234935.1 "E167K,L298R,R620L" "0,0,0" 10612 3438 sw99;dbsnp7779 CNOT1_HUMAN;NP_057368.3 "A1480V,A1625G,A79V,D603A,I509V,L141R,N2204S,R299Q,S1703A,S253N,S767G,T1605A,T1605S,V2152G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 23019 275 sw9;dbsnp20668 ESYT3_HUMAN;NP_114119.2 "D430N,G306R,G416R,G590R,H111Y,H498R,I124M,P170L,P246Q,P289H,P628L,S571R,S671R,T278A,T662S,V172I,V447L,V447M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 83850 2685 sws1000;dbsnp24003 TXD15_HUMAN;NP_078991.3 "P29A,V126I,V175L,V175M" "0,0,0,0" 79770 9425 sws1002;spmut1554;dbsnp26741 PKHA8_HUMAN;NP_001183955.1 "D150E,G268D,K413E,M194V" "0,0,0,0" 84725 6333 sws1005;dbsnp24068 FEM1C_HUMAN;NP_064562.1 "E30D,R471S,V497L" "0,0,0" 56929 4385 sws1019;dbsnp16724 GD1L1_HUMAN;NP_076939.3 "A30D,A344V,E199K,V71M" "0,0,0,0" 78997 8879 sws1029;dbsnp24135 SG3A2_HUMAN;NP_473364.1 N25H 0 117156 14734 sws1030;dbsnp29311 UHRF2_HUMAN;NP_690856.1 "C432F,F286Y,R116H,T195A,V247M" "0,0,0,0,0" 115426 3197 sws1031;dbsnp25258 QKI_HUMAN;NP_006766.1 "P105S,V275F" "0,0" 9444 9880 sws1039;dbsnp17938 PANX2_HUMAN;NP_443071.2 T664A 0 56666 4299 sws1042;dbsnp26965 FER3L_HUMAN;NP_690862.1 "E119K,G85V" "0,0" 222894 13611 sws104;dbsnp10019 ADA11_HUMAN;NP_002381.2 "I285V,P657S,R190Q,R311W,S118T,V168M" "0,0,0,0,0,0" 4185 3024 sws1051;dbsnp14802 TESK2_HUMAN;NP_009101.2 "D370G,R18H,R405C,R455C,S92N,V32M" "0,0,0,0,0,0" 10420 5536 sws1052;dbsnp10070 RSLAB_HUMAN;NP_201572.1 "A180T,P44H,V34I" "0,0,0" 91608 12902 sws1054;dbsnp29331 STRBP_HUMAN;NP_060857.2 V595I 0 55342 2625 sws1058;dbsnp15947 VATO_HUMAN;NP_004038.1 G187A 0 533 12860 sws1073;dbsnp25752 H2B1M_HUMAN;NP_003512.1 "A22T,G14D,M1V,P9S" "0,0,0,0" 8342 14189 sws1074;dbsnp25802 PRRT1_HUMAN;NP_085154.3 "I232V,T201S" "0,0" 80863 10737 sws1077;dbsnp12687;dbsnp12688;dbsnp12689 SYT3_HUMAN;NP_001153801.1;NP_001153800.1;NP_115674.1 "A177T,E147D,G105R" "0,0,0" 84258 5269 sws1084;spmut974;dbsnp9784 INP5K_HUMAN;NP_057616.2 "D284N,G215R,G215S,I448T,P289L,P29R,T305M,V143I,V205I,V341M" "0,0,0,0,0,0,0,0,0,0" 51763 7632 sws108;spmut1489;dbsnp24010 PDCD6_HUMAN;NP_037364.1 "G87D,R100H" "0,0" 10016 13153 sws1091;dbsnp27160 MRI_HUMAN;NP_076938.2 "A49V,A78V,S99L" "0,0,0" 78996 13782 sws1093;dbsnp21195 PHF7_HUMAN;NP_057567.3 "A304E,I184T,K211E,K211R,N375H,R359H,S16P" "0,0,0,0,0,0,0" 51533 8958 sws1098;dbsnp21533 OSB11_HUMAN;NP_073613.2 "I444V,N31K,R703H,T316P,T716A" "0,0,0,0,0" 114885 3486 sws1101;dbsnp12747 AP1M1_HUMAN;NP_115882.1 "H52Q,K96R" "0,0" 8907 7870 sws1115;dbsnp14105;dbsnp14106 ZN436_HUMAN;NP_001070663.1;NP_085137.1 "E247K,G99R,I139M,Q211H,V73A" "0,0,0,0,0" 80818 4250 sws1127;dbsnp19390 BC11A_HUMAN;NP_075044.2 "E202D,E489D,F642C,F673L,K670R,P367L,S783N" "0,0,0,0,0,0,0" 53335 2644 sws1130;dbsnp28816 S2551_HUMAN;NP_219480.1 "C217G,I21M,M89I,R66Q" "0,0,0,0" 92014 10929 sws1131;spmut172;dbsnp25385 ATG5_HUMAN;NP_004840.1 "I65V,M129V" "0,0" 9474 11372 sws1140;dbsnp24037 CENPH_HUMAN;NP_075060.1 "K159R,Q52H,S188G" "0,0,0" 64946 11979 sws1141;dbsnp2658 MS4A5_HUMAN;NP_076434.2 "C194R,C194S,D193N,G51E,I103T,L12P,P9L" "0,0,0,0,0,0,0" 64232 12961 sws1144;dbsnp24578 ZSC16_HUMAN;NP_079507.1 "A272T,L347F,P146L,R102H,R205K" "0,0,0,0,0" 80345 8825 sws1150;dbsnp20781 Z385D_HUMAN;NP_078973.1 "A127V,A24P,K229T,P14S,P245R,P25H,P300L,T388A,V20I" "0,0,0,0,0,0,0,0,0" 79750 7179 sws115;spmut2368;dbsnp5165 WBP4_HUMAN;NP_009118.1 "A66V,G231V,P293A,R32K,T242I,Y321C" "0,0,0,0,0,0" 11193 9076 sws1164;dbsnp27088 LRRC4_HUMAN;NP_071426.1 "D572E,H617R,L372F,P399S,T642N,V596A" "0,0,0,0,0,0" 64101 4560 sws1177;dbsnp30574 IRPL2_HUMAN;NP_059112.1 "A106V,L6F,R566Q,V22A" "0,0,0,0" 26280 4112 sws1189;dbsnp25529 KCNQ5_HUMAN;NP_062816.2 "A670T,G8R,N672K,P740L" "0,0,0,0" 56479 2340 sws1191;dbsnp22531 FBX8_HUMAN;NP_036312.2 "I38S,N123S,T236S" "0,0,0" 26269 10419 sws1198;dbsnp1008 HELLS_HUMAN;NP_060533.2 "D831V,G112S,I728V,I816V,L420V,R53C,R568H,T331M,T512A" "0,0,0,0,0,0,0,0,0" 3070 2981 sws1200;dbsnp19691 GKN1_HUMAN;NP_062563.3 R11H 0 56287 12980 sws1203;spmut1415;dbsnp18992 OLA1_HUMAN;NP_037473.3 "A266T,D379E,P59H,Y254C" "0,0,0,0" 29789 8668 sws1204;spmut440;dbsnp1110 CUTC_HUMAN;NP_057044.2 A118T 0 51076 11417 sws1205;dbsnp16377 ZF64B_HUMAN;NP_955459.2 "E636K,H307R,R555Q,R581C,S627I,V516A" "0,0,0,0,0,0" 55734 4260 sws1214;dbsnp15949 FBX28_HUMAN;NP_055991.1 P237S 0 23219 9237 sws1220;dbsnp21362 OXSM_HUMAN;NP_060367.1 "E419Q,K270R,K380E,N202D" "0,0,0,0" 54995 7420 sws1221;dbsnp12214 T161A_HUMAN;NP_060284.1 "A341T,E162K,G164R,G53R,I455V,L447F,L464F,R98H,S313F,T153I" "0,0,0,0,0,0,0,0,0,0" 54929 7027 sws1223;dbsnp12443 FXL12_HUMAN;NP_060173.1 "E320D,M326I,P282L,R174H,R225C,S115R,S202T,V117L,V264A,V314I" "0,0,0,0,0,0,0,0,0,0" 54850 10245 sws1235;spmut763;dbsnp8755 GGA3_HUMAN;NP_619525.1 "A400P,A512T,E219G,K132R,P501L,R608C,S318G,S321G,S351P,S590L" "0,0,0,0,0,0,0,0,0,0" 23163 3856 sws1243;dbsnp6939 VPS18_HUMAN;NP_065908.1 "A98T,D956N,G200W,I169V,R356Q,R568L,R56H,R608H,R752H,V653M" "0,0,0,0,0,0,0,0,0,0" 57617 2224 sws1244;dbsnp10633 K1468_HUMAN;NP_065905.2 "G50S,H437R,I782V,M668V,P487S,V519I" "0,0,0,0,0,0" 57614 1374 sws124;dbsnp15301 SPF27_HUMAN;NP_005863.1 "A15S,T4A" "0,0" 10286 12440 sws1250;dbsnp30660 KLH13_HUMAN;NP_277030.2 "R263C,T261S,V36M" "0,0,0" 90293 4505 sws1252;dbsnp15619;dbsnp15620 NCDN_HUMAN;NP_055099.1;NP_001014839.1 "P359S,V253M" "0,0" 23154 3795 sws1254;dbsnp29782 MAGC2_HUMAN;NP_057333.1 "E166Q,F137L,T275S,W332R,Y156C" "0,0,0,0,0" 51438 1574 sws1256;dbsnp4599 ABCD2_HUMAN;NP_005155.1 "A9G,D607N,G126C,H585R,R582H,T186I,T63R" "0,0,0,0,0,0,0" 225 3656 sws1257;spmut2221;dbsnp4963 TRPC4_HUMAN;NP_057263.1 "E869K,E953K,I453M,I957V,P879S,R873H,S956G,T259S,Y6H,Y959C" "0,0,0,0,0,0,0,0,0,0" 7223 2174 sws1261;dbsnp19053 SL9A2_HUMAN;NP_003039.2 "D771N,E195K,E810Q,I269V,L366M,P748Q,R656Q,T357S" "0,0,0,0,0,0,0,0" 6549 3132 sws1273;dbsnp14901 HOOK1_HUMAN;NP_056972.1 "A28V,A42G,A75T,H710R,I108V,I489V,I585T,M608I,N586S,R368C,R368H,R401W,S683F,T695N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 51361 3803 sws1274;dbsnp12993 NGAP_HUMAN;NP_004832.1 T3N 0 9462 1204 sws1275;dbsnp30777 MSPD1_HUMAN;NP_062456.1 E23K 0 56180 12677 sws1279;dbsnp3284 APC5_HUMAN;NP_057321.2 "A548V,A630V,A676V,A734V,D72Y,K366R,L451P,M664I,N521S,N61S,P498L,Y358C" "0,0,0,0,0,0,0,0,0,0,0,0" 51433 3570 sws1282;spmut762;dbsnp17888 GGA1_HUMAN;NP_037497.1 "A242P,E405K,R531Q,V145I,V215A" "0,0,0,0,0" 26088 4708 sws1285;spmut680;dbsnp21440 FBXL2_HUMAN;NP_036289.3 N364S 0 25827 7844 sws1291;dbsnp9837 IKZF3_HUMAN;NP_036613.2 "A24V,E360K,G234A,P431L,R412G,R423H,S438A,V255I" "0,0,0,0,0,0,0,0" 22806 6491 sws1292;dbsnp27123 HDAC9_HUMAN;NP_478056.1 I1001T 0 9734 1647 sws1298;dbsnp783 ZMIZ1_HUMAN;NP_065071.1 "D1005N,G693R,Q126L,Q126P,S142N,V687F,V687L" "0,0,0,0,0,0,0" 57178 1832 sws1300;dbsnp16644 TPX2_HUMAN;NP_036244.2 "E507K,K609N,L155V,N79S,R229W,R543P,R543Q,V632I" "0,0,0,0,0,0,0,0" 22974 3641 sws1305;dbsnp22750;dbsnp22751 G3BP2_HUMAN;NP_987101.1;NP_036429.2 Q103R 0 9908 6966 sws1318;dbsnp9979 KCNH4_HUMAN;NP_036417.1 "A922T,R386Q,R586C,R586H,R699C" "0,0,0,0,0" 23415 1692 sws1324;dbsnp8165 NIP7_HUMAN;NP_057185.1 "M159V,P31R,R120G,V83I" "0,0,0,0" 51388 13360 sws132;dbsnp12368 ZN432_HUMAN;NP_055465.1 "A213V,C210Y,D90V,G297R,G577D,K436N,R477Q,R505Q,R533Q,R76Q,S100G,S428T" "0,0,0,0,0,0,0,0,0,0,0,0" 9668 2356 sws1332;dbsnp3212 FACE2_HUMAN;NP_005124.1 "A289S,S48C" "0,0" 9986 10170 sws1335;dbsnp12520 SIGL7_HUMAN;NP_055200.1 "A388V,I232M,M181V,M1L,R198C,V34M,V390M" "0,0,0,0,0,0,0" 27036 5196 sws1336;dbsnp1019 DIP2C_HUMAN;NP_055789.1 "A1100V,A233V,A516V,D246N,E853D,I1388V,I960M,I987M,R802H,T1107M,V1486A" "0,0,0,0,0,0,0,0,0,0,0" 22982 757 sws1337;spmut2045 ST38L_HUMAN G99A 0 23012 7296 sws133;dbsnp28048 TOX_HUMAN;NP_055544.1 "M243V,M433I,N122S,P25A,P379L,P400L,P438L,S91P" "0,0,0,0,0,0,0,0" 9760 6195 sws1343;dbsnp15216 ZN281_HUMAN;NP_036614.1 "A252T,A70D,I428V,M434L,N577D,S683N" "0,0,0,0,0,0" 23528 2636 sws1345;dbsnp30247 ACOT9_HUMAN;NP_001028755.2 "A255T,E303Q,E63G,E99G,H189R,M185I" "0,0,0,0,0,0" 23597 7635 sws1348;dbsnp26779 T22D4_HUMAN;NP_112197.1 "D308N,P102S,R261H,R384W" "0,0,0,0" 81628 8692 sws1355;dbsnp30505 LAS1L_HUMAN;NP_112483.1 "S37L,S37W,V564A" "0,0,0" 81887 3754 sws1359;dbsnp26121 SNX8_HUMAN;NP_037453.1 "A445P,D213N,D213V,F392Y,I414T,P34L,P8R,S244L,T268I,Y391N" "0,0,0,0,0,0,0,0,0,0" 29886 7302 sws136;dbsnp12598 NDUA3_HUMAN;NP_004533.1 "A12G,L9I,P37L,R58C" "0,0,0,0" 4696 14806 sws13;dbsnp27012;dbsnp27013 IFRD1_HUMAN;NP_001541.2;NP_001007246.1 "I172V,K135R,L212V" "0,0,0" 3475 6543 sws144;dbsnp22612 NDST3_HUMAN;NP_004775.1 "D373N,G788R,H804Q,M68I,P118R,R548Q,S174N,V427I" "0,0,0,0,0,0,0,0" 9348 2699 sws14;dbsnp21275 GOLI4_HUMAN;NP_055313.1 "A45V,E432K,E448Q,E502G,G441V,G501E,P471L,Q453R,Q76P,R379Q,R470W,V199L,V231A,V335M,V686I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 27333 4115 sws21;spmut130;dbsnp15149 ARI1A_HUMAN;NP_006006.3 "A1539S,A1927P,A2027P,A2205T,A900S,A900T,E1779G,I692V,L1831V,M890V,N1081S,N1313S,N1705S,N865S,N917S,P1175L,P1568S,P1627A,P1756S,R1906P,R1906Q,S735N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8289 307 sws22;dbsnp7046;dbsnp7047 ISLR_HUMAN;NP_005536.1;NP_958934.1 "G356A,M129T,R290H,R303H,R357C,R392H,V386I,V44M" "0,0,0,0,0,0,0,0" 3671 7984 sws232;dbsnp30634;dbsnp30635 PLST_HUMAN;NP_001129497.1;NP_005023.2 "A554E,E76K,I309V,T539A" "0,0,0,0" 5358 4804 sws233;dbsnp1318;dbsnp1319;dbsnp1320;dbsnp1321 FOLR2_HUMAN;NP_001107006.1;NP_001107007.1;NP_001107008.1;NP_000794.3 "A224D,A89T,C140F,G84S,M86I,W207S" "0,0,0,0,0,0" 2350 11758 sws240;dbsnp3081 MYOD1_HUMAN;NP_002469.2 "D168G,H52Y,P171S,S293N" "0,0,0,0" 4654 10398 sws241;spmut167;dbsnp19341;dbsnp19342 ATF2_HUMAN;NP_001871.2;NP_001243019.1 "I163V,P326L,S438T" "0,0,0" 1386 6564 sws250;dbsnp16876 NEC2_HUMAN;NP_002585.2 "A385V,C18G" "0,0" 5126 4719 sws257;dbsnp17589 XBP1_HUMAN;NP_005071.2 "A7T,C204Y,M139I,N218D,N218Y" "0,0,0,0,0" 7494 9083 sws260;dbsnp25772 TCPA_HUMAN;NP_110379.2 "A332G,I184V,K84E,P4L,T244K,V230I" "0,0,0,0,0,0" 6950 5758 sws26;dbsnp9881 DVL2_HUMAN;NP_004413.1 "A53V,E36Q,G653R,I340V,M399V,P359S,P391A,P688L,R237W,R415Q,R633Q,R77H,T535I,V419I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1856 3737 sws276;dbsnp30729 PGS1_HUMAN;NP_001702.1 "E104K,K86R" "0,0" 633 9011 sws280;dbsnp2875 OSBP1_HUMAN;NP_002547.1 "H571Y,P804L,Q393E,R376H" "0,0,0,0" 5007 2520 sws292;dbsnp4737 IF4B_HUMAN;NP_001408.2 "D531G,D549N,D563E,L471Q,T32A" "0,0,0,0,0" 1975 5011 sws29;dbsnp30562;dbsnp30563;dbsnp30564;dbsnp30565 TMG1_HUMAN;NP_001135867.1;NP_000941.1;NP_001166960.1;NP_001166961.1 "L126P,P134A,V159I" "0,0,0" 5638 12572 sws307;dbsnp18996 PYR1_HUMAN;NP_004332.2 "A1491T,A2135V,A495P,D833N,E1390G,F1644L,P380H,Q1798K,R1181W,R1810Q,R1955W,S1724N,V1500M,V1596M,V2001I,V2115L,V662I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 790 326 sws309;spmut503;dbsnp15730;dbsnp15731;dbsnp15732;hgmd0613_1382 DHI1_HUMAN;NP_861420.1;NP_001193670.1;NP_005516.1 V75E 0 3290 11050 sws321;dbsnp4216 HXC9_HUMAN;NP_008828.1 "A122V,P70L" "0,0" 3225 11438 sws323;spmut789;dbsnp5236 GP183_HUMAN;NP_004942.1 "F224L,H284Y,I32T,L51V,M93I" "0,0,0,0,0" 1880 9396 sws325;dbsnp2838 GCYA2_HUMAN;NP_000846.1 M302V 0 2977 3499 sws332;dbsnp8960 PHB_HUMAN;NP_002625.1 "A17S,R43L" "0,0" 5245 10895 sws337;spmut1816;dbsnp7142 RORA_HUMAN;NP_599022.1 "S252G,V251I" "0,0" 6095 5759 sws34;dbsnp3029;dbsnp3030;dbsnp3031;dbsnp3032;dbsnp3033;dbsnp3034 TSN4_HUMAN;NP_003262.1;NP_001020407.1;NP_001020408.1;NP_001020406.1;NP_001020405.1;NP_001020409.1 "A238T,A98T,C148W,G61S,V231I" "0,0,0,0,0" 7106 12150 sws350;dbsnp17924 VATE1_HUMAN;NP_001687.1 R131Q 0 529 12421 sws377;spmut1316;dbsnp27197 NAMPT_HUMAN;NP_005737.1 E475A 0 10135 6826 sws388;dbsnp26583 5HT5A_HUMAN;NP_076917.1 "A163V,A264T,I299T,P15S,V41M" "0,0,0,0,0" 3361 9501 sws38;dbsnp19460 HAT1_HUMAN;NP_003633.1 "A254G,A314V,H261Y,K280R,R302W" "0,0,0,0,0" 8520 8178 sws397;dbsnp24211 KC1A_HUMAN;NP_001883.4 G24R 0 1452 9310 sws3;dbsnp15153 OR2M5_HUMAN;NP_001004690.1 "A156G,A162E,A162V,A175D,A216T,A237D,C112S,C169R,D180E,D191N,D271H,F200I,G16R,K303E,K80T,L199I,L273M,L292V,M144T,M228V,M258T,Q100R,R220G,R220P,R235H,R293H,T23A,Y104C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 127059 9740 sws401;spmut323;dbsnp5342 CDK8_HUMAN;NP_001251.1 V407A 0 1024 7328 sws412;dbsnp16206;dbsnp16207 RASF2_HUMAN;NP_739580.1;NP_055552.1 "N38I,Q134L,R150H,R151H,R44G,R67H,V182M,V307M" "0,0,0,0,0,0,0,0" 9770 10244 sws415;dbsnp9851;dbsnp9852 RAB5C_HUMAN;NP_958842.1;NP_004574.2 "D67N,G12E,K184N,R196G,R196Q" "0,0,0,0,0" 5878 11934 sws429;dbsnp9842;hgmd0613_1091 DGKE_HUMAN;NP_003638.1 "G20E,N385S,P12L,Q560R,Q79E" "0,0,0,0,0" 8526 5591 sws439;spmut22;dbsnp15741 AAPK2_HUMAN;NP_006243.2 A356S 0 5563 5699 sws445;dbsnp6328;dbsnp6329 IF5_HUMAN;NP_001960.2;NP_892116.2 N189K 0 1983 7935 sws452;spmut850;dbsnp19418 HDAC4_HUMAN;NP_006028.2 "A1011T,A1069T,A341T,A365V,A373T,A534S,A743T,A786T,G220R,K1003N,P363R,P428T,P437S,R13Q,R543Q,S214N,V320A,V320I,V857I,V890I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9759 1647 sws456;dbsnp2882 RAB38_HUMAN;NP_071732.1 "H150Q,H196Y,H37Y,I42V,L48F,P119S,P195T,R39W" "0,0,0,0,0,0,0,0" 23682 12442 sws457;dbsnp4749 INHBE_HUMAN;NP_113667.1 "A71V,P27L,R151C,R18Q,R207Q,R77W,S118F,S28F" "0,0,0,0,0,0,0,0" 83729 9664 sws467;dbsnp12542 TPM4_HUMAN;NP_003281.1 "D48N,V232M" "0,0" 7171 11184 sws478;dbsnp30090 RBM10_HUMAN;NP_005667.2 "A482G,A631P,I841T,P431L,R85Q,T556A,V566I" "0,0,0,0,0,0,0" 8241 2127 sws484;dbsnp4812 CDK17_HUMAN;NP_002586.2 "E20D,P432S" "0,0" 5128 5556 sws493;dbsnp8020;hgmd0613_885 IRF8_HUMAN;NP_002154.1 "A201V,E74D,G139S,G344S,I147M,T96M,V124M,V287M,Y242H" "0,0,0,0,0,0,0,0,0" 3394 8020 sws514;spmut1284;dbsnp28298;dbsnp28302;dbsnp28303;dbsnp28304;dbsnp28305;dbsnp28306;dbsnp28307 MTG8_HUMAN;NP_783552.1;NP_001185560.1;NP_001185559.1;NP_001185555.1;NP_001185556.1;NP_001185557.1;NP_001185558.1 "A90T,S222R" "0,0" 862 4453 sws515;spmut741;dbsnp7173 GABP1_HUMAN;NP_005245.2 "N239S,V214L" "0,0" 2553 7628 sws528;dbsnp908 HSP7E_HUMAN;NP_057383.2 "D327V,N279S,T104N,V207I,V267A" "0,0,0,0,0" 51182 6490 sws537;dbsnp29116;hgmd0613_1483 GNDS_HUMAN;NP_006257.1 "E644K,G165S,G177S,G713S,H381L,I724L,K222R,M545I,P331L,P343R,Q133R,Q154P,T658I,T767M,V808L,V889M" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5900 2531 sws542;dbsnp7135 MKRN3_HUMAN;NP_005655.1 "G142A,G196V,H106R,I265M,L507V,R116C,R116G,V371L" "0,0,0,0,0,0,0,0" 7681 6533 sws547;dbsnp2893 DDX10_HUMAN;NP_004389.2 "A599G,A775V,D412E,E445G,E757D,I293V,L134R,N575D,P271A,P44R,Q655R,R90H,S316N,S660F,T150M,V473I" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 1662 2739 sws549;dbsnp16813 SRSF6_HUMAN;NP_006266.2 "P317A,R184C,R184H,R313C,R313S,R327H,T185K" "0,0,0,0,0,0,0" 6431 6757 sws556;dbsnp4729 MFAP5_HUMAN;NP_003471.1 N79I 0 8076 13489 sws558;dbsnp12579 TMED1_HUMAN;NP_006849.1 "A202V,R167H,R223C,S49P" "0,0,0,0" 11018 12345 sws568;spmut1288;dbsnp17763 MTMR3_HUMAN;NP_066576.1 "G674V,L779F,M447T,N1198I,N283S,N929S,N960S,P626L,P673A,P673L,P882S,Q310R,R645W,R797Q,R912H,T1026M,Y820C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 8897 1426 sws571;dbsnp16670 ARFRP_HUMAN;NP_003215.1 E105K 0 10139 12945 sws576;dbsnp25187 TBB2A_HUMAN;NP_001060.1 "A185T,D74N" "0,0" 7280 7569 sws577;dbsnp5138 KLF5_HUMAN;NP_001721.2 "I105V,L219I,L420M,M249V,P282A" "0,0,0,0,0" 688 7456 sws57;spmut1414;dbsnp30798 OGT1_HUMAN;NP_858058.1 R825H 0 8473 1917 sws585;dbsnp1740 TRI29_HUMAN;NP_036233.2 "F314L,I285T,M468T,R315Q,R515Q,S91C,T303A,V119I,V343L,Y506C,Y544C" "0,0,0,0,0,0,0,0,0,0,0" 23650 5303 sws591;dbsnp26834;hgmd0613_1455 SEM3A_HUMAN;NP_006071.1 "D624N,I334V,I400V,M342I,N153S,Q641H,R19S,R484W,S160T,T717I,V435I,W3C" "0,0,1,0,1,0,0,0,0,0,0,0" 10371 3388 sws599;dbsnp3099 OPCM_HUMAN;NP_002536.1 "S227L,S243N" "0,0" 4978 9546 sws59;dbsnp30545 TYY2_HUMAN;NP_996806.2 "D192N,I111T,N349S,P190S,P310S,T153I,V40I" "0,0,0,0,0,0,0" 404281 8288 sws5;dbsnp7623 ERI2_HUMAN;NP_001136197.1 "G26R,I286V,M516I,P544L,P564A,Q628K,Q82E,Q84R,R15K,R647G,T667K,V512I,Y352C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 112479 4158 sws606;dbsnp2762 DPOD3_HUMAN;NP_006582.1 "A215G,K373T,L393V,N175S,S150L,T311I,V218I,V372I" "0,0,0,0,0,0,0,0" 10714 7282 sws608;dbsnp10039 PDK2_HUMAN;NP_002602.2 "D143N,L268F" "0,0" 5164 7836 sws609;dbsnp29983 PDK3_HUMAN;NP_005382.1 "M126V,R336K" "0,0" 5165 7836 sws60;dbsnp12785 NMDE4_HUMAN;NP_000827.2 E254K 0 2906 1096 sws611;dbsnp1244 IPYR_HUMAN;NP_066952.1 Q27K 0 5464 10040 sws612;dbsnp27967 PGFRL_HUMAN;NP_006198.1 "D18N,D226N,H208R,I327N,I350T,M69T,P317S,Q146R,R124C,R124H,T160M,T275A,V12L,V193A,W4C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 5157 9098 sws615;spmut620;dbsnp18678 ERBB4_HUMAN;NP_005226.1 "E1187G,F543I,H374Q,H570R,P1249L,R1067Q,R1142Q,V87L" "0,0,0,0,0,0,0,0" 2066 1154 sws616;dbsnp25512 KS6A2_HUMAN;NP_066958.2 "G284A,H371Y,I469V,R328Q,T325R" "0,0,0,0,0" 6196 3662 sws619;dbsnp21351;dbsnp21352 P2Y14_HUMAN;NP_001074924.1;NP_055694.3 "H311Y,L320P,M105I,P301L,P9R,R95S,T7P,V167A,V93A,Y275H" "0,0,0,0,0,0,0,0,0,0" 9934 9951 sws620;dbsnp17507 SF3A1_HUMAN;NP_005868.1 "A623T,D408E,K335R,N87S,T299P,W502G,W502R" "0,0,0,0,0,0,0" 10291 3268 sws630;dbsnp4212 MLF2_HUMAN;NP_005430.1 "M77V,R202P" "0,0" 8079 11951 sws633;dbsnp15410 VPS72_HUMAN;NP_005988.1 "S242L,V243A,V243G,V255I" "0,0,0,0" 6944 9328 sws651;dbsnp21595 F264_HUMAN;NP_004558.1 "M44I,M44T,P4S,V83L" "0,0,0,0" 5210 6310 sws658;dbsnp763 EDRF1_HUMAN;NP_001189367.1 "A1063T,A1117T,D922N,N214S,N214T,P268S,R19Q,S240L,S297G,V1053M,V1218I" "0,0,0,0,0,0,0,0,0,0,0" 26098 1315 sws659;dbsnp17139 KR211_HUMAN;NP_853650.1 "F42Y,G19D,G25D,G33S,G61D,Y34C,Y76C" "0,0,0,0,0,0,0" 337977 14364 sws660;dbsnp17211 KR201_HUMAN;NP_853646.1 "R25C,Y27C,Y8F" "0,0,0" 337975 14805 sws661;dbsnp19562 PUS10_HUMAN;NP_653310.2 "A277T,E280A,Q371R,R390C" "0,0,0,0" 150962 6154 sws665;dbsnp30387 LONF3_HUMAN;NP_001027026.1 "A320V,E418G,G414V,L552P,Q394E,R190P,T445I,W401L" "0,0,0,0,0,0,0,0" 79836 3528 sws688;dbsnp12645 ZN569_HUMAN;NP_689697.2 "C115Y,C152Y,E163Q,H164Q,I258T,I370L,M345V,P521S,R34Q" "0,0,0,0,0,0,0,0,0" 148266 2996 sws690;dbsnp25428 MANEA_HUMAN;NP_078917.2 "F344I,H144R,I181T,I384T,K257N,L350S,Q62P,R177C,R288L,R393C,R457H,S78T,T82I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 79694 7369 sws705;spmut760;dbsnp29288 GFI1B_HUMAN;NP_004179.3 "A204S,A204T,D97N,F50L,G139C,G81V,L60F,L60I,S98L,V171F,V34M" "0,0,0,0,0,0,0,0,0,0,0" 8328 11211 sws709;dbsnp29168 DMRTA_HUMAN;NP_071443.2 "A396P,A396S,A396T,C492S,G264R,G427S,G459A,G459W,K242R,P292S,P326S,R3W,R467W,T315N" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 63951 6588 sws718;dbsnp22624 ABLM2_HUMAN;NP_001123556.1 "P408L,R355P,R355Q" "0,0,0" 84448 4639 sws729;dbsnp6715 RHGBA_HUMAN;NP_055598.1 "D333H,D710E,D890A,I255V,I554T,I884V,K341N,N742T,P900R,R240H,R8K,S452C,S873T,S954F,T329A,V410I,V627I,V7G" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 9824 2017 sws734;dbsnp25536 C1TM_HUMAN;NP_056255.2 "A607T,A873V,D108N,D219G,D375G,D805N,D926E,G298E,G753R,G939D,I388V,I390T,I589V,I938T,K174E,K243E,L799P,P930T,R563H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 25902 2192 sws74;spmut457;dbsnp12697 DAPK3_HUMAN;NP_001339.1 "E62K,E62Q,H73Y,S373N" "0,0,0,0" 1613 933 sws753;dbsnp7053 CO052_HUMAN;NP_997263.2 "G313R,K371Q,P27S,R223W,R249C,R527H" "0,0,0,0,0,0" 388115 6077 sws755;dbsnp12634 SYDE1_HUMAN;NP_149014.3 "G639A,P122S,R501Q" "0,0,0" 85360 3747 sws758;dbsnp19686 RAPH1_HUMAN;NP_998754.1 "D155N,E244K,F740L,I572F,M62I,N1036S,P1106S,R1132C,R1230Q,R353C,S313A,V1103A,V1103G,V798E" "0,0,0,0,0,0,0,0,0,0,0,0,0,0" 65059 1279 sws762;dbsnp30706 PDZD4_HUMAN;NP_115901.2 "F697L,M699I,R57Q" "0,0,0" 57595 1839 sws766;dbsnp12385 NALP9_HUMAN;NP_789790.2 "A50D,A541P,A765T,A822V,C588R,E231Q,F235S,F37L,F564L,H770R,I42M,K31T,L747V,M713V,N629S,P462H,R899C,S499L,S529I,T708M,W85C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 338321 2143 sws778;dbsnp25232 AP2D_HUMAN;NP_758438.2 "A12D,F74L,G424S,H75R" "0,0,0,0" 83741 7399 sws77;dbsnp4796 MSI1H_HUMAN;NP_002433.1 A228T 0 4440 9366 sws785;dbsnp857 LDB1_HUMAN;NP_001106878.1 "A386T,I230T,Q225E,S400N" "0,0,0,0" 8861 8361 sws78;dbsnp27037;dbsnp27038 HXA3_HUMAN;NP_705895.1;NP_109377.1 "H211L,M375T,S376N" "0,0,0" 3200 7712 sws794;dbsnp5297 GP180_HUMAN;NP_851320.1 "A76V,D309G,F182S,G200R,G2A,H171R,M271I" "0,0,0,0,0,0,0" 160897 7771 sws802;dbsnp6352 PRIMA_HUMAN;NP_821092.1 L6V 0 145270 13863 sws813;dbsnp25461 FOXP4_HUMAN;NP_001012426.1 "A259T,A597T,G33R,M591I,P166L,P166Q,P386L,R288W,S375L,S662L,V608M" "0,0,0,0,0,0,0,0,0,0,0" 116113 3702 sws817;dbsnp2042 S22A9_HUMAN;NP_543142.2 "A244V,C200S,D530H,F380V,H456Q,I479M,M113T,P462T,R256Q,R435H,S81P,T247S,T433M,T551M,V175A,Y403H" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 114571 5798 sws819;dbsnp30441;dbsnp30442;dbsnp30443 SLIK4_HUMAN;NP_775101.1;NP_001171679.1;NP_001171678.1 "D404G,D735A,G552R,H449R,L12P,V316F" "0,0,0,0,0,0" 139065 2990 sws824;dbsnp21176;dbsnp21177 CNTN4_HUMAN;NP_001193884.1;NP_783200.1 "A119S,A587S,D817V,E331G,E354K,G221D,K186Q,M501I,N461S,Q363E,S581R,V467I,V938G,Y165H,Y795C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 152330 1990 sws832;dbsnp20884 PEX5R_HUMAN;NP_057643.1 "A232P,E388K,F365C,I49L,Q173H,T188N,V306L" "0,0,0,0,0,0,0" 51555 4839 sws834;dbsnp14919 ZZZ3_HUMAN;NP_056349.1 "A211T,D866Y,I213V,I565S,I565T,M346K,M365L,N413D,Q868R,R584H,R634H,T297A" "0,0,0,0,0,0,0,0,0,0,0,0" 26009 2604 sws835;dbsnp15067 GT252_HUMAN;NP_055916.1 "G39R,L180P,N531D,P233L,Q385L,R22L,R596Q,S160A,S403F,S603N,T263I,V420I,Y212C" "0,0,0,0,0,0,0,0,0,0,0,0,0" 23127 4840 sws83;dbsnp23847 NDUA2_HUMAN;NP_002479.1 L14V 0 4695 14668 sws846;dbsnp27110 GPC2_HUMAN;NP_689955.1 "A138T,R132H,V280I,V61I,Y134H" "0,0,0,0,0" 221914 5434 sws851;dbsnp10616 PQLC1_HUMAN;NP_079354.2 "E200D,R253C,T173I,V238L" "0,0,0,0" 80148 11464 sws853;dbsnp23859;dbsnp23860 PARP8_HUMAN;NP_078891.2;NP_001171526.1 "D15H,F41Y,I18M,L461F,M726V,R237Q,V371I" "0,0,0,0,0,0,0" 79668 2875 sws861;dbsnp25705;dbsnp25706;dbsnp25707;dbsnp25708 RN182_HUMAN;NP_001158506.1;NP_001158505.1;NP_689950.1;NP_001158504.1 "C40S,D159N,T147I" "0,0,0" 221687 11978 sws869;dbsnp4739 CL076_HUMAN;NP_997318.1 P43L 0 400073 14168 sws86;dbsnp20639 U3IP2_HUMAN;NP_004695.1 "P13L,P185L,P63S,R10L,R143W,R219C,R250H,R263C,R368W,T238P" "0,0,0,0,0,0,0,0,0,0" 9136 7112 sws873;dbsnp15978 ZBT8B_HUMAN;NP_001139192.1 "K184E,R286C,R416Q,T349S" "0,0,0,0" 728116 6752 sws878;dbsnp1204 ATAD1_HUMAN;NP_116199.2 "E321K,H256L" "0,0" 84896 9397 sws87;dbsnp12003 AKAP8_HUMAN;NP_005849.1 "A74V,D427N,E132K,G113S,G167E,G167R,K360E,K407R,L350F,N505D,P459T,R178Q,R180Q,R194H,R206H,R295C,R320Q,T610M,V258M,V533A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 10270 4146 sws882;dbsnp15257;hgmd0613_2342 B3GL2_HUMAN;NP_689703.1 "E133K,N167S,R393Q,R496Q,S137L,V57M,Y51C" "0,0,0,0,0,0,0" 148789 6673 sws891;dbsnp4133 PPHLN_HUMAN;NP_057572.5 Y49C 0 51535 7443 sws910;dbsnp27950 F110B_HUMAN;NP_671722.1 "A18V,E187G,H147Y" "0,0,0" 90362 9199 sws91;dbsnp30135 MED14_HUMAN;NP_004220.2 "M647V,N559S,N663S,Q596E,R281G,R609G,S995A,T358P,Y954H" "0,0,0,0,0,0,0,0,0" 9282 896 sws928;dbsnp29301;hgmd0613_2179 PIGO_HUMAN;NP_116023.2 "A154D,A426D,F1055L,H908P,L428Q,N209S,R109W,R811Q,V1040I" "0,0,0,0,0,0,0,0,0" 84720 1756 sws931;dbsnp17133 TSEAR_HUMAN;NP_659428.2 "A140D,A140T,A15V,D115N,D639N,E113K,E395D,G139S,G17S,G381R,H408Q,L119F,R122Q,R122W,R30C,R347S,R463W,R57Q,R57W,R609H,R669L,S223L,S593L,T369M,T369R,V298A,V315M,V51I,Y559C" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 54084 4389 sws933;dbsnp10027 NEUFC_HUMAN;NP_653212.1 "G142V,G5R,L60F,P173L,R216C,V218M" "0,0,0,0,0,0" 124936 11605 sws945;dbsnp29932 CNKR2_HUMAN;NP_055742.2 "D995N,E926K,E926V,K959E,P923Q,R942K,S1006P,S338R,T433A,V449L" "0,0,0,0,0,0,0,0,0,0" 22866 1966 sws947;dbsnp849 SORC1_HUMAN;NP_443150.3 "A1151T,A425T,A811V,A909V,G341R,H344R,P789Q,R1149S,R241H,T168M,T509M,V1118I,V907I" "0,0,0,0,0,0,0,0,0,0,0,0,0" 114815 1351 sws951;dbsnp18651;dbsnp18652 CSRN3_HUMAN;NP_001165644.1;NP_079245.2 "A565E,A565V,D370E,P578S,R126M,T287M,V101M,V460L" "0,0,0,0,0,0,0,0" 80034 5340 sws965;dbsnp1083 STAM1_HUMAN;NP_003464.1 "L518V,P431L,S39C,V508M,V61I" "0,0,0,0,0" 8027 5993 sws966;dbsnp30712 DLG3_HUMAN;NP_066943.2 "P594L,R574Q,Y767C" "0,0,0" 1741 2212 sws977;dbsnp6120 TF3B_HUMAN;NP_001510.2 "A626T,E329D,R261Q,S204F,S358R,V75M" "0,0,0,0,0,0" 2972 4298 sws984;dbsnp15882 TM40L_HUMAN;NP_115550.2 "A237V,R262T" "0,0" 84134 9400 sws985;dbsnp26533 EXOC4_HUMAN;NP_068579.3 "A5G,A823T,A830T,E38K,G285C,G550R,I281M,I300T,L717V,N439S,Q374K,T921M" "0,0,0,0,0,0,0,0,0,0,0,0" 60412 2219 sws986;dbsnp4790 MGN2_HUMAN;NP_060518.1 S5N 0 55110 13952 sws992;dbsnp30422 MTMR8_HUMAN;NP_060147.2 "A151V,A606T,C612G,D578N,I615T,I672T,L554S,L562R,L670M,N669K,P414S,P62H,P62L,R447Q,V177A" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" 55613 4046 sws993;dbsnp12715 DAZP1_HUMAN;NP_061832.2 V142L 0 26528 8440 sws995;dbsnp4874 MCRS1_HUMAN;NP_006328.2 A207V 0 10445 7115 sws996;dbsnp11865 LPPR2_HUMAN;NP_073574.2 "A76P,A76T,F249S,L77V,R291Q,R335H,T278S" "0,0,0,0,0,0,0" 64748 8007