P00492:p.Met1Phe,benign
P00492:p.Met1Gly,benign
P00492:p.Ala2Phe,benign
P00492:p.Ala2Leu,benign
P00492:p.Ala2Pro,benign
P00492:p.Ala2Val,benign
P00492:p.Thr3Ala,benign
P00492:p.Thr3Phe,benign
P00492:p.Thr3Gly,benign
P00492:p.Thr3Ser,benign
P00492:p.Arg4Gln,benign
P00492:p.Gly7Asp,pathogenic
P00492:p.Gly7Ser,benign
P00492:p.Val8Gly,pathogenic
P00492:p.Val8Ile,benign
P00492:p.Asp13Asn,benign
P00492:p.Pro15Ser,benign
P00492:p.Gly16Asp,pathogenic
P00492:p.Gly16Ser,pathogenic
P00492:p.Asp20Asn,benign
P00492:p.Asp20Ser,benign
P00492:p.Asp20Val,pathogenic
P00492:p.Cys23Phe,pathogenic
P00492:p.Cys23Trp,pathogenic
P00492:p.Cys23Tyr,benign
P00492:p.Asn26His,benign
P00492:p.Asn26Lys,benign
P00492:p.Ala29Ile,benign
P00492:p.Ala29Val,benign
P00492:p.Glu30Lys,benign
P00492:p.Glu30Gln,benign
P00492:p.Arg34Lys,benign
P00492:p.Leu41Pro,pathogenic
P00492:p.Leu41Val,benign
P00492:p.Ile42Phe,pathogenic
P00492:p.Ile42Thr,pathogenic
P00492:p.Asp44Tyr,pathogenic
P00492:p.Arg45Lys,pathogenic
P00492:p.Arg48His,pathogenic
P00492:p.Ala50Pro,pathogenic
P00492:p.Ala50Val,pathogenic
P00492:p.Arg51Gly,pathogenic
P00492:p.Arg51Pro,pathogenic
P00492:p.Val53Ala,pathogenic
P00492:p.Val53Met,pathogenic
P00492:p.Met54Leu,pathogenic
P00492:p.Glu56Lys,benign
P00492:p.Met57Thr,pathogenic
P00492:p.Gly58Arg,pathogenic
P00492:p.Gly59Asn,benign
P00492:p.His60Arg,pathogenic
P00492:p.Ala64Pro,pathogenic
P00492:p.Leu65Pro,pathogenic
P00492:p.Gly70Glu,pathogenic
P00492:p.Gly71Arg,pathogenic
P00492:p.Tyr72Cys,pathogenic
P00492:p.Phe74Leu,pathogenic
P00492:p.Leu78Gln,pathogenic
P00492:p.Leu78Val,pathogenic
P00492:p.Asp80Val,pathogenic
P00492:p.Ala84Ser,benign
P00492:p.Ala84Thr,benign
P00492:p.Ala84Val,benign
P00492:p.Ser89Cys,benign
P00492:p.Arg91Gly,benign
P00492:p.Arg91Lys,benign
P00492:p.Ser104Arg,pathogenic
P00492:p.Cys106Phe,benign
P00492:p.Ser110Leu,pathogenic
P00492:p.Ile114Thr,benign
P00492:p.Thr124Ala,benign
P00492:p.Thr124Pro,pathogenic
P00492:p.Thr124Ser,benign
P00492:p.Asn129Ser,benign
P00492:p.Val130Asp,pathogenic
P00492:p.Val130Arg,benign
P00492:p.Val130Thr,benign
P00492:p.Leu131Cys,benign
P00492:p.Leu131Ser,pathogenic
P00492:p.Ile132Leu,benign
P00492:p.Ile132Met,pathogenic
P00492:p.Ile132Thr,pathogenic
P00492:p.Val133Ala,benign
P00492:p.Val133Leu,benign
P00492:p.Glu134Asn,benign
P00492:p.Asp135Gly,pathogenic
P00492:p.Met143Lys,pathogenic
P00492:p.Leu147Pro,pathogenic
P00492:p.Leu149Met,benign
P00492:p.Arg151Lys,benign
P00492:p.Gln152Glu,benign
P00492:p.Gln152His,benign
P00492:p.Gln152Lys,benign
P00492:p.Gln152Arg,benign
P00492:p.Tyr153His,benign
P00492:p.Asn154His,benign
P00492:p.Asn154Lys,benign
P00492:p.Asn154Ser,benign
P00492:p.Pro155Leu,benign
P00492:p.Lys159Glu,pathogenic
P00492:p.Lys159Arg,benign
P00492:p.Ala161Ser,pathogenic
P00492:p.Ser162Arg,pathogenic
P00492:p.Thr168Ile,pathogenic
P00492:p.Pro169Ser,benign
P00492:p.Lys175Arg,benign
P00492:p.Pro176Leu,pathogenic
P00492:p.Asp177Val,pathogenic
P00492:p.Asp177Tyr,pathogenic
P00492:p.Ile183Thr,pathogenic
P00492:p.Asp185Gly,pathogenic
P00492:p.Val189Gly,benign
P00492:p.Tyr191His,benign
P00492:p.Ala192Val,pathogenic
P00492:p.Leu193Phe,benign
P00492:p.Asp194Glu,pathogenic
P00492:p.Asp194Asn,pathogenic
P00492:p.Tyr195Cys,pathogenic
P00492:p.Phe199Val,pathogenic
P00492:p.Asp201Gly,pathogenic
P00492:p.Asp201Asn,pathogenic
P00492:p.Asp201Tyr,pathogenic
P00492:p.His204Asp,pathogenic
P00492:p.His204Arg,pathogenic
P00492:p.Val205Ile,benign
P00492:p.Cys206Tyr,pathogenic
P51688:p.Ser2Arg,benign
P51688:p.Cys3Arg,benign
P51688:p.Pro4Ser,benign
P51688:p.Val5Gly,benign
P51688:p.Ala7Thr,benign
P51688:p.Ala7Val,benign
P51688:p.Asp32Glu,pathogenic
P51688:p.Asp32Gly,pathogenic
P51688:p.Tyr40Asn,pathogenic
P51688:p.Asn42Lys,pathogenic
P51688:p.Ala44Thr,pathogenic
P51688:p.Ile45Val,benign
P51688:p.Ser66Trp,pathogenic
P51688:p.Arg74Cys,pathogenic
P51688:p.Arg74His,pathogenic
P51688:p.Thr79Pro,pathogenic
P51688:p.His84Leu,benign
P51688:p.His84Trp,benign
P51688:p.His84Tyr,pathogenic
P51688:p.Gln85Glu,benign
P51688:p.Gln85Arg,pathogenic
P51688:p.Met88Thr,pathogenic
P51688:p.Gly90Arg,pathogenic
P51688:p.Lys103Arg,benign
P51688:p.Ser106Arg,pathogenic
P51688:p.Gly122Arg,pathogenic
P51688:p.Pro128Leu,pathogenic
P51688:p.Thr130Ala,benign
P51688:p.Val131Met,pathogenic
P51688:p.Thr139Met,pathogenic
P51688:p.Gly143Ser,benign
P51688:p.Val145Ile,benign
P51688:p.Leu146Pro,pathogenic
P51688:p.Arg150Gln,pathogenic
P51688:p.Arg150Trp,pathogenic
P51688:p.Leu163Pro,pathogenic
P51688:p.Val175Ile,benign
P51688:p.Asp179Asn,pathogenic
P51688:p.Arg182Cys,pathogenic
P51688:p.Gly191Arg,pathogenic
P51688:p.Phe193Leu,pathogenic
P51688:p.Glu201Gly,benign
P51688:p.Arg206Pro,pathogenic
P51688:p.Asp216Gly,benign
P51688:p.Leu218Gln,benign
P51688:p.Val226Ile,benign
P51688:p.Pro227Arg,pathogenic
P51688:p.Asn228Asp,benign
P51688:p.Ala234Gly,pathogenic
P51688:p.Asp235Asn,pathogenic
P51688:p.Asp235Val,pathogenic
P51688:p.Val243Ile,benign
P51688:p.Arg245His,pathogenic
P51688:p.Val250Leu,benign
P51688:p.Gly251Ala,pathogenic
P51688:p.Phe270Leu,benign
P51688:p.Asp273Asn,pathogenic
P51688:p.Thr283Ala,benign
P51688:p.Pro288Ser,pathogenic
P51688:p.Thr290Ala,benign
P51688:p.Pro293Ser,pathogenic
P51688:p.Pro293Thr,pathogenic
P51688:p.Val296Leu,benign
P51688:p.Ser298Pro,pathogenic
P51688:p.Glu300Val,pathogenic
P51688:p.Gln307Pro,pathogenic
P51688:p.Thr321Ala,pathogenic
P51688:p.Ile322Ser,pathogenic
P51688:p.Ile328Val,benign
P51688:p.Ala334Thr,benign
P51688:p.His342Gln,benign
P51688:p.Ala351Val,benign
P51688:p.Ala354Pro,pathogenic
P51688:p.Glu355Lys,pathogenic
P51688:p.Leu357Arg,benign
P51688:p.Ser364Arg,pathogenic
P51688:p.Glu369Lys,pathogenic
P51688:p.Tyr374His,pathogenic
P51688:p.Arg377Cys,pathogenic
P51688:p.Arg377His,pathogenic
P51688:p.Gln380Arg,pathogenic
P51688:p.Gln380Tyr,benign
P51688:p.Arg382Gln,benign
P51688:p.His383Asn,benign
P51688:p.Phe384Leu,benign
P51688:p.Leu386Arg,pathogenic
P51688:p.Asn389Lys,pathogenic
P51688:p.Asn391His,benign
P51688:p.Thr416Ala,benign
P51688:p.Ala417Thr,benign
P51688:p.Gln419Arg,benign
P51688:p.Arg428His,benign
P51688:p.Arg433Gln,pathogenic
P51688:p.Arg433Trp,pathogenic
P51688:p.Arg441Gln,benign
P51688:p.Arg443Gln,benign
P51688:p.Glu447Lys,pathogenic
P51688:p.Thr453Ala,benign
P51688:p.Arg456His,benign
P51688:p.Leu460Val,benign
P51688:p.Met463Thr,benign
P51688:p.Arg465Gln,benign
P51688:p.Asp466Ala,benign
P51688:p.Ala469Ser,benign
P51688:p.Ala469Thr,benign
P51688:p.Val486Phe,pathogenic
P21359:p.Met1Phe,benign
P21359:p.Met1Lys,benign
P21359:p.Met1Leu,benign
P21359:p.Met1Gln,benign
P21359:p.Met1Val,benign
P21359:p.Ala2Cys,benign
P21359:p.Ala2Asp,benign
P21359:p.Ala2Gly,benign
P21359:p.Ala2Arg,benign
P21359:p.Ala2Ser,benign
P21359:p.Ala2Thr,benign
P21359:p.Ala2Tyr,benign
P21359:p.Ala3Asp,benign
P21359:p.Ala3Glu,benign
P21359:p.Ala3Phe,benign
P21359:p.Ala3Ile,benign
P21359:p.Ala3Leu,benign
P21359:p.Ala3Met,benign
P21359:p.Ala3Pro,benign
P21359:p.Ala3Arg,benign
P21359:p.Ala3Ser,benign
P21359:p.Ala3Thr,benign
P21359:p.His4Asp,benign
P21359:p.His4Glu,benign
P21359:p.His4Gly,benign
P21359:p.His4Leu,benign
P21359:p.His4Asn,benign
P21359:p.His4Gln,benign
P21359:p.His4Arg,benign
P21359:p.His4Ser,benign
P21359:p.His4Thr,benign
P21359:p.His4Val,benign
P21359:p.Arg5Glu,benign
P21359:p.Arg5Lys,benign
P21359:p.Arg5Leu,benign
P21359:p.Arg5Pro,benign
P21359:p.Arg5Ser,benign
P21359:p.Arg5Thr,benign
P21359:p.Pro6Ala,benign
P21359:p.Pro6Cys,benign
P21359:p.Pro6Asp,benign
P21359:p.Pro6Glu,benign
P21359:p.Pro6Leu,benign
P21359:p.Pro6Met,benign
P21359:p.Pro6Asn,benign
P21359:p.Pro6Arg,benign
P21359:p.Pro6Thr,benign
P21359:p.Val7Cys,benign
P21359:p.Val7Asp,benign
P21359:p.Val7Glu,benign
P21359:p.Val7Gly,benign
P21359:p.Val7Leu,benign
P21359:p.Val7Asn,benign
P21359:p.Val7Pro,benign
P21359:p.Val7Ser,benign
P21359:p.Val7Tyr,benign
P21359:p.Glu8Ala,benign
P21359:p.Glu8Asp,benign
P21359:p.Glu8Gly,benign
P21359:p.Glu8His,benign
P21359:p.Glu8Asn,benign
P21359:p.Glu8Pro,benign
P21359:p.Glu8Gln,benign
P21359:p.Glu8Thr,benign
P21359:p.Trp9Phe,benign
P21359:p.Trp9Lys,benign
P21359:p.Trp9Ser,benign
P21359:p.Trp9Val,benign
P21359:p.Val10Ala,benign
P21359:p.Val10Cys,benign
P21359:p.Val10Phe,benign
P21359:p.Val10His,benign
P21359:p.Val10Ile,benign
P21359:p.Val10Leu,benign
P21359:p.Val10Asn,benign
P21359:p.Val10Pro,benign
P21359:p.Val10Gln,benign
P21359:p.Val10Arg,benign
P21359:p.Gln11Asp,benign
P21359:p.Gln11Glu,benign
P21359:p.Gln11Ile,benign
P21359:p.Gln11Asn,benign
P21359:p.Gln11Pro,benign
P21359:p.Gln11Arg,benign
P21359:p.Gln11Ser,benign
P21359:p.Ala12Cys,benign
P21359:p.Ala12Glu,benign
P21359:p.Ala12Gly,benign
P21359:p.Ala12Lys,benign
P21359:p.Ala12Leu,benign
P21359:p.Ala12Asn,benign
P21359:p.Ala12Gln,benign
P21359:p.Ala12Ser,benign
P21359:p.Ala12Val,benign
P21359:p.Val13Ala,benign
P21359:p.Val13Asp,benign
P21359:p.Val13Ile,benign
P21359:p.Val13Lys,benign
P21359:p.Val13Leu,benign
P21359:p.Val13Met,benign
P21359:p.Val13Ser,benign
P21359:p.Val13Thr,benign
P21359:p.Val14Ala,benign
P21359:p.Val14His,benign
P21359:p.Val14Ile,benign
P21359:p.Val14Leu,benign
P21359:p.Val14Met,benign
P21359:p.Ser15Ala,benign
P21359:p.Ser15Glu,benign
P21359:p.Ser15Gly,benign
P21359:p.Ser15His,benign
P21359:p.Ser15Leu,benign
P21359:p.Ser15Met,benign
P21359:p.Ser15Asn,benign
P21359:p.Ser15Gln,benign
P21359:p.Ser15Thr,benign
P21359:p.Arg16Gly,benign
P21359:p.Arg16His,benign
P21359:p.Arg16Lys,benign
P21359:p.Arg16Leu,benign
P21359:p.Arg16Asn,benign
P21359:p.Arg16Ser,benign
P21359:p.Arg16Thr,benign
P21359:p.Phe17Glu,benign
P21359:p.Phe17Ile,benign
P21359:p.Phe17Leu,benign
P21359:p.Phe17Met,benign
P21359:p.Phe17Val,benign
P21359:p.Phe17Trp,benign
P21359:p.Asp18Cys,benign
P21359:p.Asp18Phe,benign
P21359:p.Asp18Lys,benign
P21359:p.Asp18Gln,benign
P21359:p.Asp18Arg,benign
P21359:p.Asp18Ser,benign
P21359:p.Glu19Ala,benign
P21359:p.Glu19Cys,benign
P21359:p.Glu19Asp,benign
P21359:p.Glu19Phe,benign
P21359:p.Glu19Ile,benign
P21359:p.Glu19Leu,benign
P21359:p.Glu19Asn,benign
P21359:p.Glu19Pro,benign
P21359:p.Glu19Gln,benign
P21359:p.Glu19Arg,benign
P21359:p.Gln20Lys,benign
P21359:p.Gln20Arg,benign
P21359:p.Gln20Ser,benign
P21359:p.Gln20Val,benign
P21359:p.Leu21Val,benign
P21359:p.Pro22Met,benign
P21359:p.Lys24Arg,benign
P21359:p.Thr25Ala,benign
P21359:p.Thr25Ile,benign
P21359:p.Gly26Ser,benign
P21359:p.Asn29Ser,benign
P21359:p.His31Arg,pathogenic
P21359:p.Thr32Asn,benign
P21359:p.Lys33Thr,benign
P21359:p.His38Arg,benign
P21359:p.Ile55Val,benign
P21359:p.Thr60Asn,benign
P21359:p.Ile61Val,benign
P21359:p.Ile70Thr,benign
P21359:p.Ile70Val,benign
P21359:p.Phe71Leu,benign
P21359:p.Phe71Val,benign
P21359:p.Ala74Leu,benign
P21359:p.Ala74Thr,benign
P21359:p.Ala74Val,benign
P21359:p.Ala75Lys,benign
P21359:p.Glu76Met,benign
P21359:p.Lys77Arg,benign
P21359:p.Lys77Val,benign
P21359:p.Asn78Ser,benign
P21359:p.Asn78Tyr,benign
P21359:p.Leu79Ile,benign
P21359:p.Tyr80Pro,benign
P21359:p.Tyr80Trp,benign
P21359:p.Leu81Ile,benign
P21359:p.Ser82Cys,benign
P21359:p.Ser82Phe,pathogenic
P21359:p.Gln83Tyr,benign
P21359:p.Ile85Val,benign
P21359:p.Ile86Leu,benign
P21359:p.Leu87Asp,benign
P21359:p.Thr89Ala,benign
P21359:p.Leu90Arg,benign
P21359:p.Lys92Phe,benign
P21359:p.Cys93Val,benign
P21359:p.Cys93Trp,pathogenic
P21359:p.Cys93Tyr,pathogenic
P21359:p.Leu94Tyr,benign
P21359:p.Ala95Ile,benign
P21359:p.Ile117Ser,pathogenic
P21359:p.Leu121Ile,benign
P21359:p.Thr123Ala,benign
P21359:p.Cys124Tyr,benign
P21359:p.Leu145Pro,pathogenic
P21359:p.Ile157Asn,pathogenic
P21359:p.Arg160Thr,pathogenic
P21359:p.Arg160Val,benign
P21359:p.Gln162Glu,benign
P21359:p.Leu164Ile,benign
P21359:p.Thr165His,benign
P21359:p.Val166Ile,benign
P21359:p.Asp170Glu,benign
P21359:p.Asn171Lys,benign
P21359:p.Asn171Ser,benign
P21359:p.Val172Ala,benign
P21359:p.Val172Ile,benign
P21359:p.His175Tyr,benign
P21359:p.Asp176Ser,benign
P21359:p.Ile177Val,benign
P21359:p.Glu178Lys,benign
P21359:p.Ile183Val,benign
P21359:p.Asn184Ser,benign
P21359:p.Val185Cys,benign
P21359:p.Asp186Val,pathogenic
P21359:p.Ala188Leu,benign
P21359:p.Ala188Ser,benign
P21359:p.Ala188Thr,benign
P21359:p.Lys189Met,benign
P21359:p.Leu190Ile,benign
P21359:p.Lys191Glu,benign
P21359:p.Arg192Ser,benign
P21359:p.Leu194Met,benign
P21359:p.Leu194Arg,pathogenic
P21359:p.Lys195Gln,benign
P21359:p.Lys195Arg,benign
P21359:p.Thr197Ile,benign
P21359:p.Ala198Thr,benign
P21359:p.Ala198Val,benign
P21359:p.Val207Ile,benign
P21359:p.Leu216Pro,pathogenic
P21359:p.Tyr227Ser,benign
P21359:p.Ile237Met,benign
P21359:p.Ile237Thr,benign
P21359:p.Ile237Val,benign
P21359:p.Met242Leu,benign
P21359:p.Glu244Asp,benign
P21359:p.Cys245Phe,benign
P21359:p.Ala246Ile,benign
P21359:p.Glu247Gly,benign
P21359:p.Glu247Val,benign
P21359:p.Lys248Cys,benign
P21359:p.Phe250Tyr,benign
P21359:p.Asp251Gly,benign
P21359:p.Asp254Thr,benign
P21359:p.Gly255His,benign
P21359:p.Ala257Thr,benign
P21359:p.Glu258Ala,benign
P21359:p.Ser259Thr,benign
P21359:p.Thr260Lys,benign
P21359:p.Thr260Arg,benign
P21359:p.Lys261Arg,benign
P21359:p.Arg262Lys,benign
P21359:p.Arg262Gln,benign
P21359:p.Ile275Val,benign
P21359:p.Ser285Ala,benign
P21359:p.Lys286Arg,benign
P21359:p.Asp287Glu,benign
P21359:p.Val288Ala,benign
P21359:p.Val288Gly,benign
P21359:p.Val289Phe,benign
P21359:p.Asp290Glu,benign
P21359:p.Asn292Ser,benign
P21359:p.Asn292Thr,benign
P21359:p.Asn293Lys,benign
P21359:p.Met294Ile,benign
P21359:p.Met294Leu,benign
P21359:p.Met294Thr,benign
P21359:p.Met294Val,benign
P21359:p.Ser302Asn,benign
P21359:p.Lys305Glu,benign
P21359:p.Gly311Ser,benign
P21359:p.Ile322Thr,benign
P21359:p.Ile322Val,benign
P21359:p.Cys324Arg,pathogenic
P21359:p.Asn335Ser,benign
P21359:p.Glu337Val,pathogenic
P21359:p.Asp338Gly,pathogenic
P21359:p.Val341Ile,benign
P21359:p.Leu345Phe,benign
P21359:p.Leu357Pro,pathogenic
P21359:p.Ser361Thr,benign
P21359:p.Gly367Ser,benign
P21359:p.Ser368Asn,benign
P21359:p.Pro370Asn,benign
P21359:p.Pro370Thr,benign
P21359:p.Val373Ile,benign
P21359:p.Ser387Asn,benign
P21359:p.His389Gln,benign
P21359:p.Ala399Ser,benign
P21359:p.Asn401Ser,benign
P21359:p.Tyr408Cys,benign
P21359:p.Leu414Val,benign
P21359:p.Arg416His,benign
P21359:p.Thr419Ser,benign
P21359:p.Leu423Trp,benign
P21359:p.Lys428Arg,benign
P21359:p.Val437Met,benign
P21359:p.Glu438Lys,benign
P21359:p.Asn441His,benign
P21359:p.Asn441Ser,benign
P21359:p.Gly444Ser,benign
P21359:p.His448Asn,benign
P21359:p.Val451Ile,benign
P21359:p.Val451Leu,benign
P21359:p.Val451Met,benign
P21359:p.Gly453Ser,benign
P21359:p.Cys454Tyr,benign
P21359:p.Ala456Thr,benign
P21359:p.Ala459Pro,benign
P21359:p.Ile460Leu,benign
P21359:p.Ile460Val,benign
P21359:p.Arg461Gln,benign
P21359:p.Met462Ile,benign
P21359:p.Met462Lys,benign
P21359:p.Ala463Pro,benign
P21359:p.Ala463Thr,benign
P21359:p.Pro464Gln,benign
P21359:p.Ser465Thr,benign
P21359:p.Val472Met,benign
P21359:p.Thr473Lys,benign
P21359:p.Ser474Asn,benign
P21359:p.Thr486Ala,benign
P21359:p.Arg487Lys,benign
P21359:p.Tyr489Cys,pathogenic
P21359:p.Tyr491Cys,pathogenic
P21359:p.Tyr491Phe,benign
P21359:p.Met496Leu,benign
P21359:p.Leu508Pro,pathogenic
P21359:p.Asn510Val,benign
P21359:p.Pro511Lys,benign
P21359:p.Arg512Lys,benign
P21359:p.Lys513Gln,benign
P21359:p.Gln514Lys,benign
P21359:p.Gln514Leu,benign
P21359:p.Gly515Thr,benign
P21359:p.Pro516Arg,benign
P21359:p.Gln519Lys,benign
P21359:p.Gln519Pro,benign
P21359:p.Gly520Asn,benign
P21359:p.Gly520Ser,benign
P21359:p.Ser521Glu,benign
P21359:p.Thr522Asp,benign
P21359:p.Ala523Thr,benign
P21359:p.Glu524Leu,benign
P21359:p.Leu525Phe,benign
P21359:p.Leu525Ile,benign
P21359:p.Ile526Leu,benign
P21359:p.Thr527Lys,benign
P21359:p.Thr527Ser,benign
P21359:p.Val530Ile,benign
P21359:p.Val530Leu,benign
P21359:p.Leu532Pro,pathogenic
P21359:p.Gln535Ser,benign
P21359:p.Ser536Cys,benign
P21359:p.His537Pro,benign
P21359:p.His537Ser,benign
P21359:p.Met538Phe,benign
P21359:p.Pro539Cys,benign
P21359:p.Glu540Asp,benign
P21359:p.Glu540Lys,benign
P21359:p.Glu540Asn,benign
P21359:p.Ile541His,benign
P21359:p.Ile541Leu,benign
P21359:p.Ile541Val,benign
P21359:p.Ala542Phe,benign
P21359:p.Ala542Thr,benign
P21359:p.Gln543Phe,benign
P21359:p.Gln543Ser,benign
P21359:p.Ala545Thr,benign
P21359:p.Met546Leu,benign
P21359:p.Glu547Lys,benign
P21359:p.Leu549Pro,pathogenic
P21359:p.Asp556Glu,benign
P21359:p.Asp559Asn,benign
P21359:p.Asp564Glu,benign
P21359:p.Val567Ile,benign
P21359:p.Ser574Arg,pathogenic
P21359:p.Leu578Arg,pathogenic
P21359:p.Tyr580Phe,benign
P21359:p.Ile581Thr,pathogenic
P21359:p.Lys583Arg,pathogenic
P21359:p.Lys584Arg,benign
P21359:p.Ser587Thr,benign
P21359:p.His588Gln,benign
P21359:p.Arg601Trp,benign
P21359:p.Leu604Val,pathogenic
P21359:p.Phe610Tyr,benign
P21359:p.Gln616Ala,benign
P21359:p.Ala617Asp,benign
P21359:p.Ala617Ser,benign
P21359:p.Ala617Thr,benign
P21359:p.Ser620Thr,benign
P21359:p.Ser621Arg,benign
P21359:p.Cys622Ser,benign
P21359:p.His623Ser,benign
P21359:p.Phe624Leu,benign
P21359:p.Phe624Ser,benign
P21359:p.Leu625His,benign
P21359:p.Leu626Phe,benign
P21359:p.Leu626Ile,benign
P21359:p.Leu626Tyr,benign
P21359:p.Phe627Leu,benign
P21359:p.Phe627Pro,benign
P21359:p.Phe627Val,benign
P21359:p.Tyr628Cys,benign
P21359:p.Tyr628His,benign
P21359:p.Gly629Asp,benign
P21359:p.Gly629Glu,benign
P21359:p.Gly629Arg,pathogenic
P21359:p.Val630Gly,benign
P21359:p.Val630Ile,benign
P21359:p.Val630Leu,benign
P21359:p.Asp633Glu,benign
P21359:p.Ile634Leu,benign
P21359:p.Ile634Met,benign
P21359:p.Ile634Val,benign
P21359:p.Pro635Ser,benign
P21359:p.Ser636Ala,benign
P21359:p.Ser636Val,benign
P21359:p.Ser637Gly,benign
P21359:p.Ser637Thr,benign
P21359:p.Gly638Ala,benign
P21359:p.Gly638Tyr,benign
P21359:p.Asn639Ala,benign
P21359:p.Asn639Gly,benign
P21359:p.Asn639Ser,benign
P21359:p.Asn639Thr,benign
P21359:p.Thr640Ala,benign
P21359:p.Thr640Pro,benign
P21359:p.Thr640Ser,benign
P21359:p.Thr640Val,benign
P21359:p.Ser641Gly,benign
P21359:p.Ser641Asn,benign
P21359:p.Ser641Thr,benign
P21359:p.Gln642Glu,benign
P21359:p.Gln642His,benign
P21359:p.Met643Ile,benign
P21359:p.Met643Leu,benign
P21359:p.Met643Val,benign
P21359:p.Ser644Pro,benign
P21359:p.Met645Ile,benign
P21359:p.Met645Leu,benign
P21359:p.Met645Val,benign
P21359:p.Asp646Glu,benign
P21359:p.Asp646Asn,benign
P21359:p.Asp646Arg,benign
P21359:p.His647Tyr,benign
P21359:p.Glu648Asp,benign
P21359:p.Glu648Pro,benign
P21359:p.Glu649Asp,benign
P21359:p.Glu649Leu,benign
P21359:p.Glu649Asn,benign
P21359:p.Glu649Trp,benign
P21359:p.Leu650Phe,benign
P21359:p.Leu650Ile,benign
P21359:p.Leu650Met,benign
P21359:p.Leu650Ser,benign
P21359:p.Leu651Ile,benign
P21359:p.Leu651Lys,benign
P21359:p.Leu651Met,benign
P21359:p.Leu651Arg,benign
P21359:p.Leu651Val,benign
P21359:p.Arg652Pro,benign
P21359:p.Arg652Ser,benign
P21359:p.Arg652Thr,benign
P21359:p.Thr653Ala,benign
P21359:p.Thr653Cys,benign
P21359:p.Thr653Ile,benign
P21359:p.Thr653Pro,benign
P21359:p.Thr653Ser,benign
P21359:p.Pro654Leu,benign
P21359:p.Pro654Ser,benign
P21359:p.Pro654Thr,benign
P21359:p.Gly655Pro,benign
P21359:p.Ala656Gly,benign
P21359:p.Ala656Pro,benign
P21359:p.Ala656Ser,benign
P21359:p.Ala656Thr,benign
P21359:p.Ala656Val,benign
P21359:p.Ser657Ala,benign
P21359:p.Ser657Thr,benign
P21359:p.Ser657Val,benign
P21359:p.Leu658Ile,benign
P21359:p.Leu658Pro,benign
P21359:p.Leu658Val,benign
P21359:p.Lys660Arg,benign
P21359:p.Gly661Ser,benign
P21359:p.Lys662Arg,benign
P21359:p.Gly663Val,benign
P21359:p.Ser665Leu,benign
P21359:p.Ser665Met,benign
P21359:p.Met667Leu,benign
P21359:p.Met667Val,benign
P21359:p.Asp668Glu,benign
P21359:p.Ser669Gly,benign
P21359:p.Ala670Thr,benign
P21359:p.Cys673Ser,benign
P21359:p.Cys673Tyr,benign
P21359:p.Ser674Cys,benign
P21359:p.Ser674Gly,benign
P21359:p.Ser674Thr,benign
P21359:p.Gly675Ser,benign
P21359:p.Thr676Ala,benign
P21359:p.Thr676Ser,benign
P21359:p.Cys680Arg,benign
P21359:p.Gln682Lys,benign
P21359:p.Leu695Pro,pathogenic
P21359:p.Asn697Ser,benign
P21359:p.Thr700Ile,benign
P21359:p.Ala702Val,benign
P21359:p.Arg711Cys,benign
P21359:p.Gly722Arg,benign
P21359:p.Leu731Phe,benign
P21359:p.Asn736Ser,benign
P21359:p.Ala742Ser,benign
P21359:p.Asn746Ser,benign
P21359:p.Met748Leu,benign
P21359:p.Met748Arg,benign
P21359:p.Ser749Thr,benign
P21359:p.Ala753Ser,benign
P21359:p.Ala753Thr,benign
P21359:p.Ala754Pro,benign
P21359:p.Leu755His,benign
P21359:p.Leu755Arg,benign
P21359:p.Gln756Glu,benign
P21359:p.Gln756Pro,benign
P21359:p.Lys757Ala,benign
P21359:p.Lys757Arg,benign
P21359:p.Arg758Gln,benign
P21359:p.Arg758Thr,benign
P21359:p.Val759Gly,benign
P21359:p.Val759Gln,benign
P21359:p.Met760Phe,benign
P21359:p.Leu762Phe,benign
P21359:p.Leu762Ser,benign
P21359:p.Leu763Glu,benign
P21359:p.Leu763Pro,pathogenic
P21359:p.Leu763Ser,benign
P21359:p.Arg764Ala,benign
P21359:p.Arg764His,benign
P21359:p.Arg765Asp,benign
P21359:p.Arg765Thr,benign
P21359:p.Ile766Leu,benign
P21359:p.Ile766Thr,benign
P21359:p.Glu767Ile,benign
P21359:p.Glu767Ser,benign
P21359:p.His768Asp,benign
P21359:p.His768Tyr,benign
P21359:p.Pro769Cys,benign
P21359:p.Pro769Met,benign
P21359:p.Thr770Ala,benign
P21359:p.Thr770Cys,benign
P21359:p.Ala771Ile,benign
P21359:p.Ala771Pro,benign
P21359:p.Ala771Arg,benign
P21359:p.Gly772Leu,benign
P21359:p.Gly772Asn,benign
P21359:p.Asn773His,benign
P21359:p.Thr774Ile,benign
P21359:p.Trp777Ser,pathogenic
P21359:p.Thr780Lys,pathogenic
P21359:p.His781Pro,pathogenic
P21359:p.Ala782Thr,benign
P21359:p.Trp784Cys,pathogenic
P21359:p.Trp784Arg,pathogenic
P21359:p.Tyr794Phe,benign
P21359:p.Ala797Thr,benign
P21359:p.Ala797Val,benign
P21359:p.Met799Leu,benign
P21359:p.Gly802Ser,benign
P21359:p.Ala804Gln,benign
P21359:p.Ala804Thr,benign
P21359:p.Ala804Val,benign
P21359:p.Ala805Pro,benign
P21359:p.Ala805Thr,benign
P21359:p.Glu806Asp,benign
P21359:p.Thr831Ala,benign
P21359:p.Asp832Glu,benign
P21359:p.Leu844Phe,pathogenic
P21359:p.Leu844Pro,pathogenic
P21359:p.Leu844Arg,pathogenic
P21359:p.Leu847Pro,pathogenic
P21359:p.Gly848Glu,pathogenic
P21359:p.Gln854His,benign
P21359:p.Asn857Ser,benign
P21359:p.Ser858Ala,benign
P21359:p.Pro869Ala,benign
P21359:p.Val870Ile,benign
P21359:p.Ser871Gly,benign
P21359:p.Ser871Asn,benign
P21359:p.Val880Met,benign
P21359:p.Met881Val,benign
P21359:p.Ser883Thr,benign
P21359:p.Glu884Asp,benign
P21359:p.Ala887Ile,benign
P21359:p.Ala887Pro,benign
P21359:p.Ala887Thr,benign
P21359:p.Ala887Val,benign
P21359:p.Asp888Glu,benign
P21359:p.Thr889Ser,benign
P21359:p.Lys893Arg,benign
P21359:p.Met895Ile,benign
P21359:p.Leu898Pro,pathogenic
P21359:p.Ser900Thr,benign
P21359:p.Lys908Arg,benign
P21359:p.Leu911Val,benign
P21359:p.Thr915Ser,benign
P21359:p.Asn916Ser,benign
P21359:p.Val917Ile,benign
P21359:p.Leu920Pro,pathogenic
P21359:p.Ser926Asn,benign
P21359:p.Lys938Arg,benign
P21359:p.Asn939Ser,benign
P21359:p.Thr940Ala,benign
P21359:p.Ser947Ala,benign
P21359:p.Thr954Ser,benign
P21359:p.Asp955Glu,benign
P21359:p.Thr956Ser,benign
P21359:p.Met968Arg,pathogenic
P21359:p.His975Pro,benign
P21359:p.Gly984Glu,benign
P21359:p.Thr990Ala,benign
P21359:p.Met1005Leu,benign
P21359:p.Ala1024Glu,benign
P21359:p.Ala1024Thr,benign
P21359:p.Met1035Arg,pathogenic
P21359:p.Arg1038Ser,benign
P21359:p.Asn1039His,benign
P21359:p.Asn1039Ser,benign
P21359:p.Lys1040His,benign
P21359:p.Lys1040Ser,benign
P21359:p.Met1041Gly,benign
P21359:p.Met1041Leu,benign
P21359:p.Val1042Leu,benign
P21359:p.Val1042Arg,benign
P21359:p.Glu1043Pro,benign
P21359:p.Glu1043Thr,benign
P21359:p.Tyr1044Asn,benign
P21359:p.Leu1045Asn,benign
P21359:p.Thr1046Lys,benign
P21359:p.Asp1047Cys,benign
P21359:p.Asp1047His,benign
P21359:p.Trp1048Phe,benign
P21359:p.Trp1048Arg,pathogenic
P21359:p.Trp1048Val,benign
P21359:p.Val1049Cys,benign
P21359:p.Met1050Ile,benign
P21359:p.Met1050Leu,benign
P21359:p.Gly1051Lys,benign
P21359:p.Gly1051Leu,benign
P21359:p.Thr1052Phe,benign
P21359:p.Thr1052Gly,benign
P21359:p.Ser1053Val,benign
P21359:p.Asn1054Phe,benign
P21359:p.Asn1054His,benign
P21359:p.Gln1055Phe,benign
P21359:p.Ala1056Val,benign
P21359:p.Ala1057Asn,benign
P21359:p.Ala1057Thr,benign
P21359:p.Asp1058Ser,benign
P21359:p.Asp1059Glu,benign
P21359:p.Asp1059Asn,benign
P21359:p.Asp1060Tyr,benign
P21359:p.Val1061Ile,benign
P21359:p.Val1061Leu,benign
P21359:p.Lys1062Gly,benign
P21359:p.Leu1064Pro,benign
P21359:p.Thr1065Asn,benign
P21359:p.Met1073Val,pathogenic
P21359:p.Glu1123Asp,benign
P21359:p.Ser1124Asn,benign
P21359:p.Ala1125Thr,benign
P21359:p.Ala1125Val,benign
P21359:p.Thr1127Ala,benign
P21359:p.Leu1147Pro,pathogenic
P21359:p.Asn1156Ser,pathogenic
P21359:p.Gly1166Asp,pathogenic
P21359:p.Gln1189Arg,pathogenic
P21359:p.Phe1193Cys,pathogenic
P21359:p.Leu1196Arg,pathogenic
P21359:p.Ala1202Thr,benign
P21359:p.Arg1204Gly,pathogenic
P21359:p.Arg1204Trp,pathogenic
P21359:p.Asn1229Ile,benign
P21359:p.Asn1229Ser,benign
P21359:p.Leu1243Pro,pathogenic
P21359:p.Arg1250Pro,pathogenic
P21359:p.Ala1268Thr,benign
P21359:p.Arg1276Gly,pathogenic
P21359:p.Arg1276Pro,pathogenic
P21359:p.Arg1276Gln,pathogenic
P21359:p.Thr1295Asn,benign
P21359:p.Asp1302Glu,benign
P21359:p.Ile1307Thr,benign
P21359:p.Ile1307Val,benign
P21359:p.Val1308Ile,benign
P21359:p.Ser1312Ala,benign
P21359:p.Ser1312Pro,benign
P21359:p.Asp1313Glu,benign
P21359:p.Pro1328His,benign
P21359:p.Pro1328Gln,benign
P21359:p.Pro1328Ser,benign
P21359:p.Ser1329Thr,benign
P21359:p.Ser1331Ile,benign
P21359:p.Glu1333Asp,benign
P21359:p.Glu1334Asp,benign
P21359:p.Arg1337Gln,benign
P21359:p.Asn1338Ser,benign
P21359:p.Gln1341His,benign
P21359:p.Met1342Ile,benign
P21359:p.Glu1344Asp,benign
P21359:p.Lys1345Arg,benign
P21359:p.His1348Asp,benign
P21359:p.His1348Gln,benign
P21359:p.Ile1351Thr,benign
P21359:p.Ile1351Val,benign
P21359:p.Ser1352Asn,benign
P21359:p.Ser1354Cys,benign
P21359:p.Ser1355Leu,benign
P21359:p.Pro1359Ser,benign
P21359:p.Asn1378Thr,benign
P21359:p.Lys1379Thr,benign
P21359:p.Val1382Ile,benign
P21359:p.Lys1385Asn,benign
P21359:p.Lys1385Arg,benign
P21359:p.Lys1386Arg,benign
P21359:p.Glu1387His,benign
P21359:p.Glu1387Lys,benign
P21359:p.Asn1388Gln,benign
P21359:p.Lys1389Arg,benign
P21359:p.Lys1389Ser,benign
P21359:p.Lys1390Ser,benign
P21359:p.Ser1391Lys,benign
P21359:p.Ser1391Pro,benign
P21359:p.Leu1411Phe,pathogenic
P21359:p.Arg1412Ser,pathogenic
P21359:p.Lys1430Glu,pathogenic
P21359:p.Pro1432Leu,benign
P21359:p.Pro1433Ala,benign
P21359:p.Ile1435Thr,benign
P21359:p.Lys1440Gln,pathogenic
P21359:p.Lys1440Arg,pathogenic
P21359:p.Lys1444Glu,pathogenic
P21359:p.Lys1444Asn,pathogenic
P21359:p.Lys1444Arg,pathogenic
P21359:p.Ile1445Val,benign
P21359:p.Leu1446Pro,pathogenic
P21359:p.Asn1451Thr,pathogenic
P21359:p.Val1453Leu,pathogenic
P21359:p.His1460Tyr,benign
P21359:p.Pro1463His,benign
P21359:p.Ser1470Asn,benign
P21359:p.Ser1470Thr,benign
P21359:p.Ala1474Leu,benign
P21359:p.Ala1474Thr,benign
P21359:p.Thr1488Ala,benign
P21359:p.Ser1489Gly,pathogenic
P21359:p.Ala1491Ser,benign
P21359:p.Ala1491Thr,benign
P21359:p.Ser1497Phe,benign
P21359:p.Phe1498Ser,benign
P21359:p.Ser1591Asn,benign
P21359:p.Ser1599Cys,benign
P21359:p.Lys1600Arg,benign
P21359:p.Ala1601Ser,benign
P21359:p.Asn1603Ser,benign
P21359:p.Ile1605Val,pathogenic
P21359:p.Val1609Ile,benign
P21359:p.Arg1611Trp,pathogenic
P21359:p.Thr1648Ala,benign
P21359:p.Asp1672Glu,benign
P21359:p.Ser1675Cys,benign
P21359:p.Tyr1678Phe,benign
P21359:p.Ile1679Val,benign
P21359:p.Asn1681His,benign
P21359:p.Val1686Cys,benign
P21359:p.Arg1687Cys,benign
P21359:p.Glu1688Ile,benign
P21359:p.Tyr1689Ser,benign
P21359:p.Thr1690Val,benign
P21359:p.Tyr1692Trp,benign
P21359:p.His1693Gln,benign
P21359:p.Arg1695Tyr,benign
P21359:p.Leu1696Met,benign
P21359:p.Leu1697Arg,benign
P21359:p.Thr1698Ser,benign
P21359:p.Leu1700Asn,benign
P21359:p.Lys1701Tyr,benign
P21359:p.Gly1702Leu,benign
P21359:p.Ser1703Leu,benign
P21359:p.Lys1704Arg,benign
P21359:p.Arg1705Phe,benign
P21359:p.Arg1705Gly,benign
P21359:p.Val1707Ile,benign
P21359:p.Val1707Leu,benign
P21359:p.Phe1708Ile,benign
P21359:p.Asp1710Thr,benign
P21359:p.Cys1711Gly,benign
P21359:p.Cys1711Ser,benign
P21359:p.Pro1712Phe,benign
P21359:p.Gly1713Leu,benign
P21359:p.Lys1714Ala,benign
P21359:p.Ala1716Glu,benign
P21359:p.Glu1717Asp,benign
P21359:p.His1718Glu,benign
P21359:p.Ile1719Leu,benign
P21359:p.Ile1719Val,benign
P21359:p.His1721Pro,benign
P21359:p.Glu1722Asp,benign
P21359:p.Glu1722Ser,benign
P21359:p.Gln1723Gly,benign
P21359:p.Gln1724Leu,benign
P21359:p.Lys1725Asn,benign
P21359:p.Pro1727Leu,benign
P21359:p.Ala1728Val,benign
P21359:p.Ala1729Gly,benign
P21359:p.Thr1730Phe,benign
P21359:p.Ala1732Asn,benign
P21359:p.Glu1734Ser,benign
P21359:p.Glu1735Asp,benign
P21359:p.Asp1736Phe,benign
P21359:p.Leu1737Tyr,benign
P21359:p.Lys1738Ile,benign
P21359:p.Val1739Met,benign
P21359:p.Phe1740Lys,benign
P21359:p.His1741Phe,benign
P21359:p.Ala1743Pro,benign
P21359:p.Leu1744Phe,benign
P21359:p.Lys1745Leu,benign
P21359:p.Lys1745Arg,benign
P21359:p.Lys1749Tyr,benign
P21359:p.Asp1750Pro,benign
P21359:p.Thr1751Leu,benign
P21359:p.Lys1752Ala,benign
P21359:p.Val1753Asp,benign
P21359:p.Ser1754Ile,benign
P21359:p.Ile1755Phe,benign
P21359:p.Lys1756Gln,benign
P21359:p.Gly1758Ser,benign
P21359:p.Ser1759Phe,benign
P21359:p.Thr1760Ser,benign
P21359:p.Ala1761Leu,benign
P21359:p.Val1762Cys,benign
P21359:p.Gln1763Phe,benign
P21359:p.Thr1765Asn,benign
P21359:p.Ser1766Asp,benign
P21359:p.Ala1767Ser,benign
P21359:p.Lys1771Arg,benign
P21359:p.Ser1776Leu,benign
P21359:p.Ser1776Thr,benign
P21359:p.Val1777Leu,benign
P21359:p.Asn1780Thr,benign
P21359:p.Ile1782Leu,benign
P21359:p.Ala1785Ser,pathogenic
P21359:p.Ile1791Leu,benign
P21359:p.Ile1791Pro,benign
P21359:p.Cys1792Gly,benign
P21359:p.Leu1793Phe,benign
P21359:p.Val1794Pro,benign
P21359:p.Asp1795Arg,benign
P21359:p.Glu1796Cys,benign
P21359:p.Asn1797Pro,benign
P21359:p.Gln1798Thr,benign
P21359:p.Phe1799Pro,benign
P21359:p.Thr1800Ile,benign
P21359:p.Leu1801Val,benign
P21359:p.Thr1802Val,benign
P21359:p.Ala1804Lys,benign
P21359:p.Asn1805Cys,benign
P21359:p.Gln1806His,benign
P21359:p.Gly1807Val,benign
P21359:p.Thr1808Arg,benign
P21359:p.Thr1811Gln,benign
P21359:p.Phe1812Trp,benign
P21359:p.Met1813Leu,benign
P21359:p.His1814Thr,benign
P21359:p.Gln1815Pro,benign
P21359:p.Cys1817Ser,benign
P21359:p.Glu1818Asp,benign
P21359:p.Glu1818Lys,benign
P21359:p.Ala1819His,benign
P21359:p.Ile1820Phe,benign
P21359:p.Val1821Gly,benign
P21359:p.Gln1822Met,benign
P21359:p.Gln1822Arg,benign
P21359:p.Ile1824Arg,benign
P21359:p.Ile1825Trp,benign
P21359:p.His1826Ala,benign
P21359:p.Ile1827Asp,benign
P21359:p.Thr1829Leu,benign
P21359:p.Trp1831Ser,benign
P21359:p.Glu1832Gly,benign
P21359:p.Ile1900Phe,benign
P21359:p.Ala1902Pro,benign
P21359:p.Asn1904Lys,benign
P21359:p.Thr1905Asn,benign
P21359:p.Ser1938Asn,benign
P21359:p.Trp1952Arg,pathogenic
P21359:p.Leu1953Pro,pathogenic
P21359:p.Val1957Thr,benign
P21359:p.Arg1958Thr,benign
P21359:p.Phe1959Glu,benign
P21359:p.Cys1960Ser,benign
P21359:p.Lys1961Ser,benign
P21359:p.His1962Pro,benign
P21359:p.Asn1963Glu,benign
P21359:p.Asp1964Gly,benign
P21359:p.Asp1965Ser,benign
P21359:p.Ala1966Gly,benign
P21359:p.Lys1967Val,benign
P21359:p.Arg1968Val,benign
P21359:p.Gln1969Val,benign
P21359:p.Val1971Arg,benign
P21359:p.Thr1972Ile,benign
P21359:p.Ala1973Lys,benign
P21359:p.Ile1974Leu,benign
P21359:p.Leu1975Val,benign
P21359:p.Asp1976Lys,benign
P21359:p.Lys1977Glu,benign
P21359:p.Leu1978Val,benign
P21359:p.Ile1979Lys,benign
P21359:p.Thr1980Cys,benign
P21359:p.Thr1982Val,benign
P21359:p.Ile1983Met,benign
P21359:p.Asn1984Asp,benign
P21359:p.Glu1985Arg,benign
P21359:p.Lys1986Ser,benign
P21359:p.Gln1987Arg,benign
P21359:p.Met1988Val,benign
P21359:p.Tyr1989Phe,benign
P21359:p.Gly2001Arg,pathogenic
P21359:p.Gln2002Val,benign
P21359:p.Asp2012Asn,pathogenic
P21359:p.Leu2088Pro,pathogenic
P21359:p.Asp2095Glu,benign
P21359:p.Val2106Ile,benign
P21359:p.Thr2108Ala,benign
P21359:p.Phe2109Leu,benign
P21359:p.Leu2125Pro,pathogenic
P21359:p.Val2126Leu,benign
P21359:p.Ser2137Thr,benign
P21359:p.His2140Gln,benign
P21359:p.Leu2164Met,pathogenic
P21359:p.Tyr2192Asn,pathogenic
P21359:p.Ala2215Val,benign
P21359:p.Arg2218Lys,benign
P21359:p.Pro2221Ala,pathogenic
P21359:p.Arg2235Lys,benign
P21359:p.Arg2235Met,benign
P21359:p.Val2259Ile,benign
P21359:p.Ser2260Ala,benign
P21359:p.Ala2274Phe,benign
P21359:p.Ala2274Gly,benign
P21359:p.Leu2275Arg,benign
P21359:p.Glu2276Ser,benign
P21359:p.Leu2279Phe,benign
P21359:p.Lys2280Ser,benign
P21359:p.Asp2283Glu,benign
P21359:p.Thr2284Asn,benign
P21359:p.Ala2293Ser,benign
P21359:p.Asn2306Thr,benign
P21359:p.Asp2308Glu,benign
P21359:p.Asp2308Ile,benign
P21359:p.Ser2309Thr,benign
P21359:p.Leu2311Met,benign
P21359:p.Lys2313Arg,benign
P21359:p.Lys2313Ser,benign
P21359:p.Ala2314Ser,benign
P21359:p.Phe2316Gly,benign
P21359:p.Trp2317Asn,benign
P21359:p.Val2318Arg,benign
P21359:p.Val2320Met,benign
P21359:p.Val2320Arg,benign
P21359:p.Ala2321Pro,benign
P21359:p.Val2322Cys,benign
P21359:p.Leu2325Lys,benign
P21359:p.Asp2326Lys,benign
P21359:p.Glu2327Asn,benign
P21359:p.Val2328Ile,benign
P21359:p.Asn2329Cys,benign
P21359:p.Leu2330Ile,benign
P21359:p.Tyr2331His,benign
P21359:p.Ser2332Ile,benign
P21359:p.Ala2333Leu,benign
P21359:p.Gly2334Tyr,benign
P21359:p.Thr2335Ser,benign
P21359:p.Ala2336His,benign
P21359:p.Leu2337Ile,benign
P21359:p.Leu2338Tyr,benign
P21359:p.Glu2339Ile,benign
P21359:p.Gln2340Tyr,benign
P21359:p.Asn2341Cys,benign
P21359:p.Leu2342Val,benign
P21359:p.His2343Asn,benign
P21359:p.Thr2344Leu,benign
P21359:p.Leu2345Ile,benign
P21359:p.Asp2346Asn,benign
P21359:p.Ser2347His,benign
P21359:p.Leu2348Met,benign
P21359:p.Arg2349Ile,benign
P21359:p.Ile2350Val,benign
P21359:p.Asp2353Ser,benign
P21359:p.Lys2354Arg,benign
P21359:p.Glu2357Lys,pathogenic
P21359:p.Glu2358Lys,benign
P21359:p.Val2359Tyr,benign
P21359:p.Phe2360Leu,benign
P21359:p.Met2361Trp,benign
P21359:p.Ala2362Glu,benign
P21359:p.Asn2365Arg,benign
P21359:p.Asn2365Ser,benign
P21359:p.Ala2404Asn,benign
P21359:p.Ala2404Thr,benign
P21359:p.Ile2405Thr,benign
P21359:p.His2414Asn,benign
P21359:p.Thr2418Ala,benign
P21359:p.Asn2425Lys,benign
P21359:p.Gln2434Glu,benign
P21359:p.Ser2451Gly,benign
P21359:p.Cys2453Phe,benign
P21359:p.Lys2459Gln,benign
P21359:p.Thr2464Asn,benign
P21359:p.Thr2464Ser,benign
P21359:p.Ile2466Val,benign
P21359:p.Ser2467Ala,benign
P21359:p.Met2468Val,benign
P21359:p.Glu2469Asp,benign
P21359:p.Asn2470Ser,benign
P21359:p.Val2471Ile,benign
P21359:p.Pro2472Ser,benign
P21359:p.Thr2475Ile,benign
P21359:p.Pro2477Thr,benign
P21359:p.Ile2478Phe,benign
P21359:p.Ile2478Leu,benign
P21359:p.Ile2478Val,benign
P21359:p.His2479Leu,benign
P21359:p.His2480Leu,benign
P21359:p.His2480Gln,benign
P21359:p.His2480Tyr,benign
P21359:p.Gly2481Ser,benign
P21359:p.Asp2482Asn,benign
P21359:p.Pro2483Ala,benign
P21359:p.Pro2483Thr,benign
P21359:p.Ser2484Ala,benign
P21359:p.Ser2484Cys,benign
P21359:p.Ser2484Gly,benign
P21359:p.Ser2484Asn,benign
P21359:p.Ser2484Thr,benign
P21359:p.Tyr2485Ser,benign
P21359:p.Thr2487Ala,benign
P21359:p.Thr2491His,benign
P21359:p.Thr2491Asn,benign
P21359:p.Thr2491Ser,benign
P21359:p.Gln2492His,benign
P21359:p.Gln2492Pro,benign
P21359:p.Lys2498Arg,benign
P21359:p.Gly2499Ala,benign
P21359:p.Glu2501Asp,benign
P21359:p.Gly2502Arg,benign
P21359:p.Tyr2503His,benign
P21359:p.Ala2505Thr,benign
P21359:p.Thr2507Ala,benign
P21359:p.Thr2507Ile,pathogenic
P21359:p.Thr2507Ser,benign
P21359:p.Pro2509Gln,benign
P21359:p.Thr2510Ala,benign
P21359:p.Thr2510Asn,benign
P21359:p.Thr2510Pro,benign
P21359:p.Thr2510Ser,benign
P21359:p.Val2511Ala,benign
P21359:p.Val2511Met,benign
P21359:p.Thr2514Ile,benign
P21359:p.Ala2518Thr,benign
P21359:p.Glu2558Asp,benign
P21359:p.Met2559Val,benign
P21359:p.Ile2563Met,benign
P21359:p.Thr2575Asn,benign
P21359:p.Gln2582Pro,benign
P21359:p.Gln2582Arg,benign
P21359:p.Ile2584Val,benign
P21359:p.Ser2585Ala,benign
P21359:p.Ser2585Pro,benign
P21359:p.Ser2586Ala,benign
P21359:p.Ser2586Pro,benign
P21359:p.Ser2587Ala,benign
P21359:p.Ser2587Pro,benign
P21359:p.Ser2587Gln,benign
P21359:p.Arg2594Cys,benign
P21359:p.Val2598Met,benign
P21359:p.Val2603Ala,benign
P21359:p.Glu2607Lys,benign
P21359:p.Ala2624Pro,benign
P21359:p.Leu2626Trp,benign
P21359:p.Lys2628Ala,benign
P21359:p.Tyr2629Gln,benign
P21359:p.Thr2630Val,benign
P21359:p.Thr2631Ala,pathogenic
P21359:p.Thr2631His,benign
P21359:p.Asp2632Asn,benign
P21359:p.Glu2633Pro,benign
P21359:p.Phe2634Asn,benign
P21359:p.Asp2635Thr,benign
P21359:p.Gln2636Gly,benign
P21359:p.Glu2641Ala,benign
P21359:p.Ala2644Lys,benign
P21359:p.Glu2645Pro,benign
P21359:p.Ala2646Gly,benign
P21359:p.Ser2647Gly,benign
P21359:p.Lys2652Arg,benign
P21359:p.Val2656Leu,benign
P21359:p.Ile2665Met,benign
P21359:p.Asn2666Ser,benign
P21359:p.Ser2670Thr,benign
P21359:p.Asn2676His,benign
P21359:p.Ile2681Val,benign
P21359:p.His2691Tyr,benign
P21359:p.Ser2701Ala,benign
P21359:p.Arg2713Gln,benign
P21359:p.Phe2714Val,benign
P21359:p.Ala2715Trp,benign
P21359:p.Phe2718Leu,benign
P21359:p.Ser2719Phe,benign
P21359:p.Gln2721Glu,benign
P21359:p.Thr2722Ser,benign
P21359:p.Gln2723Thr,benign
P21359:p.Ile2724Arg,benign
P21359:p.Pro2725Arg,benign
P21359:p.Tyr2727Ser,benign
P21359:p.Ala2728Thr,benign
P21359:p.Glu2729Arg,benign
P21359:p.Leu2730Arg,benign
P21359:p.Ile2731Thr,benign
P21359:p.Val2732Leu,benign
P21359:p.Lys2733Asn,benign
P21359:p.Phe2734Ser,benign
P21359:p.Phe2734Thr,benign
P21359:p.Leu2735Pro,benign
P21359:p.Asp2736Asn,benign
P21359:p.Asp2736Pro,benign
P21359:p.Ala2737Pro,benign
P21359:p.Ala2737Thr,benign
P21359:p.Ile2739Ala,benign
P21359:p.Ile2739Asn,benign
P21359:p.Asp2740Ser,benign
P21359:p.Asp2740Thr,benign
P21359:p.Thr2741Pro,benign
P21359:p.Thr2741Val,benign
P21359:p.Tyr2742Thr,benign
P21359:p.Leu2743Val,benign
P21359:p.Pro2744Asp,benign
P21359:p.Ile2746Leu,benign
P21359:p.Thr2750Ala,benign
P21359:p.Thr2750Pro,benign
P21359:p.Ser2760Ala,benign
P21359:p.Ser2760Pro,benign
P21359:p.Pro2761Met,benign
P21359:p.Tyr2762Asp,benign
P21359:p.Tyr2762Leu,benign
P21359:p.Tyr2762Pro,benign
P21359:p.Pro2763Gly,benign
P21359:p.Pro2764Leu,benign
P21359:p.Pro2764Gln,benign
P21359:p.Pro2764Thr,benign
P21359:p.Leu2766Ser,benign
P21359:p.Leu2766Val,benign
P21359:p.Gln2767Lys,benign
P21359:p.Ser2768Glu,benign
P21359:p.Gln2769Val,benign
P21359:p.Ser2771Ala,benign
P21359:p.Ile2772Val,benign
P21359:p.Thr2773Ser,benign
P21359:p.Ala2774Asn,benign
P21359:p.Asn2775Val,benign
P21359:p.Leu2776Ile,benign
P21359:p.Asn2777Ala,benign
P21359:p.Leu2778Ala,benign
P21359:p.Ser2779Arg,benign
P21359:p.Ser2779Thr,benign
P21359:p.Asn2780Arg,benign
P21359:p.Asn2780Val,benign
P21359:p.Ser2781Ile,benign
P21359:p.Met2782Cys,benign
P21359:p.Met2782Val,benign
P21359:p.Thr2783Asp,benign
P21359:p.Thr2783Glu,benign
P21359:p.Ser2784Ala,benign
P21359:p.Ser2784Glu,benign
P21359:p.Leu2785Phe,benign
P21359:p.Ala2786Phe,benign
P21359:p.Thr2787Val,benign
P21359:p.Ser2788Asp,benign
P21359:p.Gln2789Leu,benign
P21359:p.Gln2789Pro,benign
P21359:p.His2790Phe,benign
P21359:p.His2790Gln,benign
P21359:p.Ser2791Ala,benign
P21359:p.Ser2791Lys,benign
P21359:p.Pro2792Ala,benign
P21359:p.Pro2792Gly,benign
P21359:p.Pro2792Ser,benign
P21359:p.Gly2793Cys,benign
P21359:p.Ile2794Lys,benign
P21359:p.Ile2794Leu,benign
P21359:p.Ile2794Pro,benign
P21359:p.Ile2794Val,benign
P21359:p.Asp2795Phe,benign
P21359:p.Asp2795Ser,benign
P21359:p.Asp2795Thr,benign
P21359:p.Lys2796Ala,benign
P21359:p.Lys2796Pro,benign
P21359:p.Lys2796Thr,benign
P21359:p.Lys2796Val,benign
P21359:p.Glu2797Ala,benign
P21359:p.Glu2797Asp,benign
P21359:p.Glu2797Gly,benign
P21359:p.Glu2797Thr,benign
P21359:p.Glu2797Val,benign
P21359:p.Asn2798Ala,benign
P21359:p.Asn2798Glu,benign
P21359:p.Asn2798Phe,benign
P21359:p.Asn2798His,benign
P21359:p.Asn2798Ser,benign
P21359:p.Val2799Ile,benign
P21359:p.Val2799Leu,benign
P21359:p.Val2799Met,benign
P21359:p.Val2799Asn,benign
P21359:p.Val2799Thr,benign
P21359:p.Glu2800Ala,benign
P21359:p.Glu2800His,benign
P21359:p.Glu2800Pro,benign
P21359:p.Glu2800Val,benign
P21359:p.Leu2801Cys,benign
P21359:p.Leu2801Phe,benign
P21359:p.Leu2801Met,benign
P21359:p.Leu2801Val,benign
P21359:p.Ser2802Asp,benign
P21359:p.Ser2802Glu,benign
P21359:p.Ser2802Phe,benign
P21359:p.Ser2802Leu,benign
P21359:p.Pro2803Lys,benign
P21359:p.Thr2804Ala,benign
P21359:p.Thr2804His,benign
P21359:p.Thr2804Pro,benign
P21359:p.Thr2804Gln,benign
P21359:p.Thr2804Ser,benign
P21359:p.Thr2804Val,benign
P21359:p.Thr2805Ala,benign
P21359:p.Thr2805Gln,benign
P21359:p.Thr2805Ser,benign
P21359:p.Gly2806Leu,benign
P21359:p.His2807Pro,benign
P21359:p.His2807Thr,benign
P21359:p.His2807Tyr,benign
P21359:p.Cys2808Ala,benign
P21359:p.Cys2808Phe,benign
P21359:p.Cys2808Leu,benign
P21359:p.Cys2808Ser,benign
P21359:p.Cys2808Thr,benign
P21359:p.Asn2809His,benign
P21359:p.Asn2809Ser,benign
P21359:p.Asn2809Tyr,benign
P21359:p.Ser2810His,benign
P21359:p.Ser2810Lys,benign
P21359:p.Ser2810Leu,benign
P21359:p.Ser2810Gln,benign
P21359:p.Ser2810Arg,benign
P21359:p.Gly2811Cys,benign
P21359:p.Gly2811Leu,benign
P21359:p.Gly2811Gln,benign
P21359:p.Gly2811Thr,benign
P21359:p.Arg2812Cys,benign
P21359:p.Arg2812His,benign
P21359:p.Arg2812Gln,benign
P21359:p.Thr2813Met,benign
P21359:p.Thr2813Gln,benign
P21359:p.Thr2813Ser,benign
P21359:p.Arg2814His,benign
P21359:p.Arg2814Lys,benign
P21359:p.Arg2814Ser,benign
P21359:p.His2815Glu,benign
P21359:p.His2815Ile,benign
P21359:p.His2815Ser,benign
P21359:p.His2815Trp,benign
P21359:p.Gly2816Ala,benign
P21359:p.Ser2817His,benign
P21359:p.Ser2817Val,benign
P21359:p.Ala2818Phe,benign
P21359:p.Ala2818Ser,benign
P21359:p.Ser2819Met,benign
P21359:p.Ser2819Asn,benign
P21359:p.Gln2820His,benign
P21359:p.Gln2820Arg,benign
P21359:p.Gln2820Val,benign
P21359:p.Val2821Ile,benign
P21359:p.Val2821Leu,benign
P21359:p.Gln2822Ala,benign
P21359:p.Gln2822Phe,benign
P21359:p.Gln2822Tyr,benign
P21359:p.Lys2823Leu,benign
P21359:p.Lys2823Pro,benign
P21359:p.Lys2823Ser,benign
P21359:p.Gln2824His,benign
P21359:p.Gln2824Leu,benign
P21359:p.Gln2824Pro,benign
P21359:p.Gln2824Arg,benign
P21359:p.Arg2825Ile,benign
P21359:p.Arg2825Gln,benign
P21359:p.Arg2825Val,benign
P21359:p.Ser2826Ala,benign
P21359:p.Ser2826Asn,benign
P21359:p.Ser2826Pro,benign
P21359:p.Ala2827Cys,benign
P21359:p.Ala2827Phe,benign
P21359:p.Ala2827Leu,benign
P21359:p.Ala2827Thr,benign
P21359:p.Ala2827Val,benign
P21359:p.Gly2828Glu,benign
P21359:p.Gly2828Leu,benign
P21359:p.Gly2828Gln,benign
P21359:p.Gly2828Ser,benign
P21359:p.Ser2829Ala,benign
P21359:p.Ser2829Ile,benign
P21359:p.Phe2830Leu,benign
P21359:p.Phe2830Val,benign
P21359:p.Lys2831Phe,benign
P21359:p.Lys2831Trp,benign
P21359:p.Arg2832Phe,benign
P21359:p.Arg2832Leu,benign
P21359:p.Arg2832Ser,benign
P21359:p.Arg2832Thr,benign
P21359:p.Asn2833Ala,benign
P21359:p.Asn2833His,benign
P21359:p.Asn2833Ser,benign
P21359:p.Asn2833Thr,benign
P21359:p.Ser2834Phe,benign
P21359:p.Ser2834His,benign
P21359:p.Ser2834Asn,benign
P21359:p.Ile2835Phe,benign
P21359:p.Ile2835Pro,benign
P21359:p.Lys2836Arg,benign
P21359:p.Lys2836Val,benign
P21359:p.Lys2837Glu,benign
P21359:p.Lys2837Asn,benign
P21359:p.Lys2837Pro,benign
P21359:p.Lys2837Gln,benign
P21359:p.Ile2838Ala,benign
P21359:p.Ile2838Leu,benign
P21359:p.Ile2838Pro,benign
P21359:p.Ile2838Thr,benign
P21359:p.Val2839Met,benign
P00451:p.Thr7Ser,benign
P00451:p.Cys8Tyr,benign
P00451:p.Arg15Gln,benign
P00451:p.Cys17Trp,benign
P00451:p.Ser19Arg,pathogenic
P00451:p.Arg22Thr,pathogenic
P00451:p.Tyr24Cys,pathogenic
P00451:p.Tyr25Cys,pathogenic
P00451:p.Leu26Pro,pathogenic
P00451:p.Leu26Arg,pathogenic
P00451:p.Ala28Gln,benign
P00451:p.Val29Trp,benign
P00451:p.Glu30Asn,benign
P00451:p.Glu30Val,pathogenic
P00451:p.Trp33Gly,pathogenic
P00451:p.Tyr35Cys,pathogenic
P00451:p.Tyr35His,pathogenic
P00451:p.Gln37His,benign
P00451:p.Ser38Arg,benign
P00451:p.Leu40Ala,benign
P00451:p.Leu40Pro,benign
P00451:p.Gly41Cys,pathogenic
P00451:p.Gly41Arg,benign
P00451:p.Glu42Ala,benign
P00451:p.Leu43Gln,benign
P00451:p.Pro44Lys,benign
P00451:p.Val45Ala,benign
P00451:p.Asp46Ser,benign
P00451:p.Ala47Gly,benign
P00451:p.Ala47Ile,benign
P00451:p.Ala47Thr,benign
P00451:p.Arg48Cys,pathogenic
P00451:p.Arg48Gly,benign
P00451:p.Arg48Lys,pathogenic
P00451:p.Lys55Arg,benign
P00451:p.Val64Met,benign
P00451:p.Lys67Glu,pathogenic
P00451:p.Lys67Asn,pathogenic
P00451:p.Leu69Pro,pathogenic
P00451:p.Leu69Val,benign
P00451:p.Glu72Lys,pathogenic
P00451:p.Asp75Glu,pathogenic
P00451:p.Asp75Tyr,pathogenic
P00451:p.Pro83Arg,pathogenic
P00451:p.Gly89Asp,pathogenic
P00451:p.Gly89Val,pathogenic
P00451:p.Gly92Ala,pathogenic
P00451:p.Gly92Val,pathogenic
P00451:p.Ala97Pro,pathogenic
P00451:p.Glu98Lys,pathogenic
P00451:p.Val99Asp,pathogenic
P00451:p.Asp101Gly,pathogenic
P00451:p.Asp101His,pathogenic
P00451:p.Asp101Val,pathogenic
P00451:p.Val104Asp,pathogenic
P00451:p.Lys108Thr,pathogenic
P00451:p.Met110Val,pathogenic
P00451:p.Ala111Thr,pathogenic
P00451:p.Ala111Val,pathogenic
P00451:p.His113Arg,pathogenic
P00451:p.His113Tyr,pathogenic
P00451:p.Leu117Phe,pathogenic
P00451:p.Leu117Arg,pathogenic
P00451:p.Gly121Ser,pathogenic
P00451:p.Glu129Val,pathogenic
P00451:p.Gly130Arg,pathogenic
P00451:p.Glu132Asp,pathogenic
P00451:p.Tyr133Cys,pathogenic
P00451:p.Asp135Gly,pathogenic
P00451:p.Asp135Tyr,pathogenic
P00451:p.Thr137Ala,pathogenic
P00451:p.Thr137Ile,pathogenic
P00451:p.Ser138Arg,pathogenic
P00451:p.Glu141Lys,pathogenic
P00451:p.Asp145His,pathogenic
P00451:p.Val147Asp,pathogenic
P00451:p.Tyr155His,pathogenic
P00451:p.Val159Ala,pathogenic
P00451:p.Asn163Lys,pathogenic
P00451:p.Gly164Asp,pathogenic
P00451:p.Gly164Val,pathogenic
P00451:p.Pro165Ser,pathogenic
P00451:p.Cys172Trp,pathogenic
P00451:p.Ser176Pro,pathogenic
P00451:p.Ser179Pro,pathogenic
P00451:p.Val181Glu,pathogenic
P00451:p.Val181Met,pathogenic
P00451:p.Lys185Thr,pathogenic
P00451:p.Asp186Gly,pathogenic
P00451:p.Asp186Asn,pathogenic
P00451:p.Asp186Tyr,pathogenic
P00451:p.Ser189Leu,pathogenic
P00451:p.Leu191Phe,pathogenic
P00451:p.Gly193Arg,pathogenic
P00451:p.Leu195Pro,pathogenic
P00451:p.Cys198Gly,pathogenic
P00451:p.Ser202Asn,pathogenic
P00451:p.Ser202Arg,pathogenic
P00451:p.Lys205Asn,benign
P00451:p.Thr208Ile,benign
P00451:p.Phe214Val,pathogenic
P00451:p.Ile215Val,benign
P00451:p.Leu217His,pathogenic
P00451:p.Ala219Asp,pathogenic
P00451:p.Ala219Thr,pathogenic
P00451:p.Val220Gly,pathogenic
P00451:p.Asp222Val,pathogenic
P00451:p.Glu223Lys,pathogenic
P00451:p.Gly224Trp,pathogenic
P00451:p.Ala241Asp,benign
P00451:p.Ala246Thr,benign
P00451:p.Thr252Ile,pathogenic
P00451:p.Val253Phe,pathogenic
P00451:p.Asn254Ile,pathogenic
P00451:p.Gly255Val,pathogenic
P00451:p.Leu261Pro,pathogenic
P00451:p.Pro262Leu,pathogenic
P00451:p.Gly263Ser,pathogenic
P00451:p.Gly266Glu,pathogenic
P00451:p.Cys267Tyr,pathogenic
P00451:p.Trp274Cys,pathogenic
P00451:p.His275Leu,pathogenic
P00451:p.Gly278Arg,pathogenic
P00451:p.Gly280Asp,pathogenic
P00451:p.Glu284Lys,pathogenic
P00451:p.Val285Gly,pathogenic
P00451:p.Glu291Gly,pathogenic
P00451:p.Glu291Lys,pathogenic
P00451:p.Thr294Ile,pathogenic
P00451:p.Phe295Leu,pathogenic
P00451:p.Val297Ala,pathogenic
P00451:p.Asn299Ile,pathogenic
P00451:p.Arg301Cys,pathogenic
P00451:p.Arg301His,pathogenic
P00451:p.Arg301Leu,pathogenic
P00451:p.Ala303Glu,pathogenic
P00451:p.Ala303Pro,pathogenic
P00451:p.Ile307Ser,pathogenic
P00451:p.Ser308Leu,pathogenic
P00451:p.Phe312Ser,pathogenic
P00451:p.Thr314Ala,pathogenic
P00451:p.Thr314Ile,pathogenic
P00451:p.Ala315Val,pathogenic
P00451:p.Gly323Glu,pathogenic
P00451:p.Leu326Pro,pathogenic
P00451:p.Leu327Pro,pathogenic
P00451:p.Leu327Val,pathogenic
P00451:p.Cys329Phe,pathogenic
P00451:p.Ile331Val,pathogenic
P00451:p.His336Arg,benign
P00451:p.Met339Thr,pathogenic
P00451:p.Glu340Lys,pathogenic
P00451:p.Val345Ala,pathogenic
P00451:p.Val345Leu,pathogenic
P00451:p.Cys348Arg,pathogenic
P00451:p.Cys348Ser,pathogenic
P00451:p.Cys348Tyr,pathogenic
P00451:p.Tyr365Cys,pathogenic
P00451:p.Thr370Ala,benign
P00451:p.Arg391Cys,pathogenic
P00451:p.Arg391His,pathogenic
P00451:p.Arg391Pro,pathogenic
P00451:p.Ser392Leu,pathogenic
P00451:p.Ser392Pro,pathogenic
P00451:p.Ala394Ser,pathogenic
P00451:p.Trp401Gly,pathogenic
P00451:p.Ile405Phe,pathogenic
P00451:p.Ile405Ser,pathogenic
P00451:p.Glu409Gly,pathogenic
P00451:p.Asp411Val,benign
P00451:p.Trp412Gly,pathogenic
P00451:p.Trp412Arg,pathogenic
P00451:p.Leu417Ser,benign
P00451:p.Ala420Asp,benign
P00451:p.Asp422Asn,benign
P00451:p.Lys427Ile,pathogenic
P00451:p.Leu431Phe,pathogenic
P00451:p.Leu431Ser,pathogenic
P00451:p.Pro435Ser,benign
P00451:p.Arg437Pro,pathogenic
P00451:p.Arg437Trp,pathogenic
P00451:p.Ile438Phe,pathogenic
P00451:p.Gly439Asp,pathogenic
P00451:p.Gly439Ser,pathogenic
P00451:p.Gly439Val,pathogenic
P00451:p.Tyr442Cys,pathogenic
P00451:p.Lys444Arg,pathogenic
P00451:p.Tyr450Asp,pathogenic
P00451:p.Tyr450Asn,pathogenic
P00451:p.Thr454Ile,pathogenic
P00451:p.Phe455Cys,pathogenic
P00451:p.Ile461Val,benign
P00451:p.His463Tyr,benign
P00451:p.Gly466Glu,pathogenic
P00451:p.Pro470Leu,pathogenic
P00451:p.Pro470Arg,pathogenic
P00451:p.Pro470Thr,pathogenic
P00451:p.Gly474Glu,pathogenic
P00451:p.Gly474Arg,pathogenic
P00451:p.Gly474Val,pathogenic
P00451:p.Glu475Lys,pathogenic
P00451:p.Gly477Val,pathogenic
P00451:p.Asp478Asn,pathogenic
P00451:p.Thr479Arg,pathogenic
P00451:p.Phe484Cys,pathogenic
P00451:p.Ala488Gly,pathogenic
P00451:p.Arg490Gly,pathogenic
P00451:p.Tyr492Cys,pathogenic
P00451:p.Tyr492His,pathogenic
P00451:p.Ile494Thr,pathogenic
P00451:p.Pro496Arg,pathogenic
P00451:p.Gly498Arg,pathogenic
P00451:p.Arg503His,pathogenic
P00451:p.Gly513Ser,pathogenic
P00451:p.Gly513Val,pathogenic
P00451:p.Ile522Val,benign
P00451:p.Ile522Tyr,pathogenic
P00451:p.Lys529Glu,pathogenic
P00451:p.Trp532Gly,pathogenic
P00451:p.Pro540Thr,pathogenic
P00451:p.Thr541Ser,pathogenic
P00451:p.Asp544Asn,pathogenic
P00451:p.Arg546Trp,pathogenic
P00451:p.Arg550Cys,pathogenic
P00451:p.Arg550Gly,pathogenic
P00451:p.Arg550His,pathogenic
P00451:p.Ser553Pro,pathogenic
P00451:p.Ser554Cys,pathogenic
P00451:p.Ser554Gly,pathogenic
P00451:p.Val556Asp,pathogenic
P00451:p.Val556Ile,benign
P00451:p.Arg560Thr,pathogenic
P00451:p.Asp561Gly,pathogenic
P00451:p.Asp561His,pathogenic
P00451:p.Asp561Tyr,pathogenic
P00451:p.Ile567Thr,pathogenic
P00451:p.Pro569Arg,pathogenic
P00451:p.Ser577Phe,pathogenic
P00451:p.Val578Ala,pathogenic
P00451:p.Asp579Ala,pathogenic
P00451:p.Asp579His,pathogenic
P00451:p.Asn583Ser,pathogenic
P00451:p.Gln584His,pathogenic
P00451:p.Gln584Lys,pathogenic
P00451:p.Gln584Arg,pathogenic
P00451:p.Ile585Arg,pathogenic
P00451:p.Ile585Thr,pathogenic
P00451:p.Met586Val,pathogenic
P00451:p.Asp588Gly,pathogenic
P00451:p.Asp588Tyr,pathogenic
P00451:p.Leu594Gln,pathogenic
P00451:p.Ser596Pro,pathogenic
P00451:p.Asn601Asp,pathogenic
P00451:p.Asn601Lys,pathogenic
P00451:p.Arg602Gly,pathogenic
P00451:p.Arg602Gln,benign
P00451:p.Ser603Ile,pathogenic
P00451:p.Ser603Arg,pathogenic
P00451:p.Trp604Cys,pathogenic
P00451:p.Tyr605His,pathogenic
P00451:p.Tyr605Ser,pathogenic
P00451:p.Asn609Ile,pathogenic
P00451:p.Ile610Met,benign
P00451:p.Arg612Cys,pathogenic
P00451:p.Arg612His,benign
P00451:p.Ala618Val,benign
P00451:p.Asn631Lys,pathogenic
P00451:p.Asn631Ser,pathogenic
P00451:p.Met633Ile,pathogenic
P00451:p.Ser635Asn,pathogenic
P00451:p.Asn637Asp,pathogenic
P00451:p.Asn637Ile,pathogenic
P00451:p.Asn637Ser,pathogenic
P00451:p.Tyr639Cys,pathogenic
P00451:p.Leu644Val,pathogenic
P00451:p.Leu650Phe,pathogenic
P00451:p.Val653Ala,pathogenic
P00451:p.Val653Met,pathogenic
P00451:p.Leu659Pro,pathogenic
P00451:p.Ala663Val,pathogenic
P00451:p.Gln664Pro,pathogenic
P00451:p.Phe677Leu,pathogenic
P00451:p.Met681Ile,pathogenic
P00451:p.Val682Phe,pathogenic
P00451:p.Tyr683Cys,pathogenic
P00451:p.Tyr683Asn,pathogenic
P00451:p.Thr686Arg,pathogenic
P00451:p.Phe698Leu,pathogenic
P00451:p.Met699Thr,pathogenic
P00451:p.Met699Val,pathogenic
P00451:p.Met701Ile,pathogenic
P00451:p.Gly705Val,pathogenic
P00451:p.Gly710Trp,pathogenic
P00451:p.Asn713Ile,pathogenic
P00451:p.Arg717Leu,pathogenic
P00451:p.Arg717Trp,pathogenic
P00451:p.Gly720Asp,pathogenic
P00451:p.Gly720Ser,pathogenic
P00451:p.Met721Ile,pathogenic
P00451:p.Met721Leu,pathogenic
P00451:p.Ala723Thr,pathogenic
P00451:p.Leu725Gln,pathogenic
P00451:p.Val727Phe,pathogenic
P00451:p.Gly735Asp,benign
P00451:p.Glu739Lys,pathogenic
P00451:p.Tyr742Cys,pathogenic
P00451:p.Ala747Thr,benign
P00451:p.His767Tyr,benign
P00451:p.Thr770Pro,benign
P00451:p.Lys773Asn,benign
P00451:p.Ile780Val,benign
P00451:p.Glu782Lys,benign
P00451:p.Met798Val,benign
P00451:p.Ile801Val,benign
P00451:p.Met811Thr,benign
P00451:p.Leu812Pro,benign
P00451:p.His820Tyr,benign
P00451:p.Lys831Glu,benign
P00451:p.Asp845Gly,benign
P00451:p.Ser846Thr,benign
P00451:p.Asn847Asp,benign
P00451:p.Ser849Asn,benign
P00451:p.Glu852Lys,benign
P00451:p.Phe856Leu,benign
P00451:p.Leu860Phe,benign
P00451:p.Leu860His,benign
P00451:p.Leu860Pro,benign
P00451:p.Leu860Ser,benign
P00451:p.Ser872Pro,benign
P00451:p.Gly873Asp,benign
P00451:p.Arg877Ile,benign
P00451:p.Ala886Val,benign
P00451:p.Leu893Phe,benign
P00451:p.Thr900Ser,benign
P00451:p.Pro909Leu,benign
P00451:p.Ala914Val,benign
P00451:p.Thr917Asn,benign
P00451:p.Thr917Ser,benign
P00451:p.Ser921Asn,benign
P00451:p.Gly924Arg,benign
P00451:p.Ser927Asn,benign
P00451:p.Met928Ile,benign
P00451:p.Asp933Glu,benign
P00451:p.Gln935Pro,benign
P00451:p.Phe941Ser,benign
P00451:p.Pro947Arg,pathogenic
P00451:p.Thr949Ile,benign
P00451:p.Gly952Asp,benign
P00451:p.Gly953Arg,benign
P00451:p.Ser984Trp,benign
P00451:p.Ser985Leu,benign
P00451:p.Glu987Asp,benign
P00451:p.Leu991Phe,benign
P00451:p.Gly994Glu,benign
P00451:p.Ala1008Val,benign
P00451:p.Val1012Leu,pathogenic
P00451:p.Thr1019Ile,benign
P00451:p.Pro1037Arg,benign
P00451:p.Leu1040Phe,benign
P00451:p.Ile1041Val,benign
P00451:p.Glu1042Gln,benign
P00451:p.Asn1043Ser,benign
P00451:p.Ile1051Val,benign
P00451:p.Glu1057Lys,pathogenic
P00451:p.Lys1059Gln,benign
P00451:p.His1066Tyr,pathogenic
P00451:p.Asp1067Asn,benign
P00451:p.Met1071Ile,benign
P00451:p.Met1071Thr,benign
P00451:p.Ala1075Thr,benign
P00451:p.Ala1077Thr,benign
P00451:p.His1082Arg,benign
P00451:p.Ser1084Pro,benign
P00451:p.Gln1097Arg,benign
P00451:p.Lys1100Ile,benign
P00451:p.Pro1105Leu,benign
P00451:p.Gln1109Glu,benign
P00451:p.Ala1125Val,benign
P00451:p.Arg1126Asn,benign
P00451:p.Arg1126Ser,benign
P00451:p.Ile1128Val,benign
P00451:p.Pro1145Ala,benign
P00451:p.Gln1147Leu,benign
P00451:p.Leu1148Phe,benign
P00451:p.Val1149Ile,benign
P00451:p.Lys1155Asn,benign
P00451:p.Phe1176Leu,benign
P00451:p.Lys1178Gln,benign
P00451:p.Val1180Ile,benign
P00451:p.Gly1181Arg,benign
P00451:p.Met1185Ile,benign
P00451:p.Met1185Val,benign
P00451:p.Ser1190Gly,benign
P00451:p.Ser1190Asn,benign
P00451:p.Lys1219Arg,benign
P00451:p.Gln1225Arg,benign
P00451:p.Glu1226Asp,benign
P00451:p.Asn1227Ser,benign
P00451:p.Val1228Ile,benign
P00451:p.Asp1260Glu,benign
P00451:p.Asn1274Ser,benign
P00451:p.Lys1282Asn,benign
P00451:p.Thr1284Met,benign
P00451:p.Lys1289Glu,benign
P00451:p.Lys1289Val,benign
P00451:p.Glu1297Ala,benign
P00451:p.Ala1311Pro,benign
P00451:p.Cys1312His,benign
P00451:p.Cys1312Arg,benign
P00451:p.Arg1315Ser,benign
P00451:p.Thr1320Pro,benign
P00451:p.Ser1321Asn,benign
P00451:p.Thr1327Met,benign
P00451:p.Ser1330Gly,benign
P00451:p.Gln1336Lys,pathogenic
P00451:p.Phe1337Leu,benign
P00451:p.Ile1350Leu,benign
P00451:p.Asp1353Glu,benign
P00451:p.Asp1354Glu,benign
P00451:p.Lys1361Glu,benign
P00451:p.Met1363Ile,benign
P00451:p.Leu1371Phe,benign
P00451:p.His1397Tyr,benign
P00451:p.Pro1400Thr,benign
P00451:p.Ile1409Thr,benign
P00451:p.Lys1411Glu,benign
P00451:p.Ile1421Met,benign
P00451:p.Tyr1422Asp,benign
P00451:p.Leu1427Pro,benign
P00451:p.Ser1432Ala,benign
P00451:p.Ser1432Phe,benign
P00451:p.His1434Arg,benign
P00451:p.Pro1436Leu,benign
P00451:p.Ala1438Pro,benign
P00451:p.Ser1439Pro,benign
P00451:p.Lys1443Arg,benign
P00451:p.Gln1455Pro,benign
P00451:p.Ala1457Val,benign
P00451:p.Lys1458Arg,benign
P00451:p.Asn1460Lys,pathogenic
P00451:p.Asn1461Lys,benign
P00451:p.Leu1462Ile,benign
P00451:p.Thr1472Ile,benign
P00451:p.Gly1482Val,benign
P00451:p.Leu1499Phe,benign
P00451:p.Pro1500Leu,benign
P00451:p.Pro1500Ser,benign
P00451:p.Asp1503Ala,benign
P00451:p.Asp1503Gly,benign
P00451:p.Lys1506Glu,benign
P00451:p.His1518Arg,benign
P00451:p.Asp1523Glu,benign
P00451:p.Asn1531Ser,benign
P00451:p.Val1540Met,benign
P00451:p.Gly1547Glu,benign
P00451:p.Ala1551Gly,benign
P00451:p.Asn1555Lys,benign
P00451:p.Val1563Ile,benign
P00451:p.Val1568Gly,benign
P00451:p.Asp1582Gly,benign
P00451:p.Asp1587Asn,benign
P00451:p.Asn1588Lys,benign
P00451:p.Tyr1590Ser,benign
P00451:p.Glu1597Lys,benign
P00451:p.Lys1608Asn,benign
P00451:p.Ala1610Ser,pathogenic
P00451:p.Ser1619Pro,benign
P00451:p.Ala1622Pro,benign
P00451:p.Asn1626Ser,benign
P00451:p.Ala1628Thr,benign
P00451:p.Gly1635Glu,benign
P00451:p.Lys1638Glu,benign
P00451:p.Glu1640Gln,benign
P00451:p.Val1643Ala,benign
P00451:p.Arg1650Gly,benign
P00451:p.Val1661Gly,benign
P00451:p.Thr1670Ser,benign
P00451:p.Arg1671Leu,benign
P00451:p.Thr1672Asn,benign
P00451:p.Ile1698Thr,pathogenic
P00451:p.Tyr1699Cys,pathogenic
P00451:p.Tyr1699Phe,pathogenic
P00451:p.Asp1700Gly,benign
P00451:p.Glu1701Lys,pathogenic
P00451:p.Gln1705His,pathogenic
P00451:p.Arg1708Cys,pathogenic
P00451:p.Arg1708His,pathogenic
P00451:p.Thr1714Ser,pathogenic
P00451:p.Arg1715Gly,pathogenic
P00451:p.Ala1720Val,pathogenic
P00451:p.Glu1723Lys,pathogenic
P00451:p.Asp1727Val,pathogenic
P00451:p.Tyr1728Cys,pathogenic
P00451:p.Met1730Thr,benign
P00451:p.Val1736Ile,benign
P00451:p.Arg1740Gly,pathogenic
P00451:p.Lys1751Gln,pathogenic
P00451:p.Phe1762Leu,pathogenic
P00451:p.Arg1768His,pathogenic
P00451:p.Gly1769Arg,pathogenic
P00451:p.Leu1771Pro,pathogenic
P00451:p.Leu1775Phe,pathogenic
P00451:p.Leu1775Val,pathogenic
P00451:p.Leu1777Pro,pathogenic
P00451:p.Gly1779Glu,pathogenic
P00451:p.Gly1779Arg,pathogenic
P00451:p.Pro1780Leu,pathogenic
P00451:p.Ile1782Arg,pathogenic
P00451:p.Asp1788His,pathogenic
P00451:p.Met1791Thr,pathogenic
P00451:p.Arg1795Lys,benign
P00451:p.Ala1798Pro,pathogenic
P00451:p.Ser1799His,pathogenic
P00451:p.Arg1800Cys,pathogenic
P00451:p.Arg1800Gly,pathogenic
P00451:p.Arg1800His,pathogenic
P00451:p.Pro1801Ala,pathogenic
P00451:p.Tyr1802Cys,pathogenic
P00451:p.Ser1803Tyr,pathogenic
P00451:p.Phe1804Ser,pathogenic
P00451:p.Leu1808Phe,pathogenic
P00451:p.Pro1821Leu,benign
P00451:p.Met1842Ile,pathogenic
P00451:p.Pro1844Ser,pathogenic
P00451:p.Thr1845Pro,pathogenic
P00451:p.Glu1848Gly,pathogenic
P00451:p.Ala1853Thr,pathogenic
P00451:p.Ala1853Val,pathogenic
P00451:p.Ser1858Cys,pathogenic
P00451:p.Lys1864Glu,pathogenic
P00451:p.Asp1865Asn,pathogenic
P00451:p.Asp1865Tyr,pathogenic
P00451:p.His1867Pro,pathogenic
P00451:p.His1867Arg,pathogenic
P00451:p.Gly1869Asp,pathogenic
P00451:p.Gly1869Val,pathogenic
P00451:p.Gly1872Glu,pathogenic
P00451:p.Pro1873Arg,pathogenic
P00451:p.Leu1875Pro,pathogenic
P00451:p.Val1876Leu,pathogenic
P00451:p.Cys1877Arg,pathogenic
P00451:p.Cys1877Tyr,pathogenic
P00451:p.Leu1882Pro,pathogenic
P00451:p.Arg1888Ile,pathogenic
P00451:p.Glu1894Gly,pathogenic
P00451:p.Ile1901Phe,pathogenic
P00451:p.Glu1904Asp,pathogenic
P00451:p.Glu1904Lys,pathogenic
P00451:p.Lys1906Arg,benign
P00451:p.Ser1907Cys,pathogenic
P00451:p.Ser1907Arg,pathogenic
P00451:p.Trp1908Leu,pathogenic
P00451:p.Tyr1909Cys,pathogenic
P00451:p.Met1914Thr,benign
P00451:p.Ala1939Thr,pathogenic
P00451:p.Asn1941Asp,pathogenic
P00451:p.Asn1941Ser,pathogenic
P00451:p.Gly1942Ala,pathogenic
P00451:p.Met1945Val,pathogenic
P00451:p.Leu1951Phe,pathogenic
P00451:p.Arg1960Leu,pathogenic
P00451:p.Arg1960Gln,pathogenic
P00451:p.Leu1963Pro,pathogenic
P00451:p.Ser1965Ile,pathogenic
P00451:p.Met1966Ile,pathogenic
P00451:p.Met1966Val,pathogenic
P00451:p.Gly1967Asp,pathogenic
P00451:p.Ser1968Arg,pathogenic
P00451:p.Asn1971Thr,pathogenic
P00451:p.His1973Leu,pathogenic
P00451:p.Gly1979Val,pathogenic
P00451:p.His1980Pro,pathogenic
P00451:p.His1980Tyr,pathogenic
P00451:p.Phe1982Ile,pathogenic
P00451:p.Arg1985Gln,pathogenic
P00451:p.Leu1994Pro,pathogenic
P00451:p.Leu1994Val,benign
P00451:p.Tyr1998Cys,pathogenic
P00451:p.Gly2000Ala,pathogenic
P00451:p.Glu2003Lys,benign
P00451:p.Thr2004Arg,pathogenic
P00451:p.Met2007Ile,pathogenic
P00451:p.Gly2013Arg,pathogenic
P00451:p.Trp2015Cys,pathogenic
P00451:p.Arg2016Pro,pathogenic
P00451:p.Arg2016Trp,pathogenic
P00451:p.Glu2018Gly,pathogenic
P00451:p.Gly2022Asp,pathogenic
P00451:p.Gly2028Arg,pathogenic
P00451:p.Ser2030Asn,pathogenic
P00451:p.Val2035Ala,pathogenic
P00451:p.Tyr2036Cys,pathogenic
P00451:p.Asn2038Ser,pathogenic
P00451:p.Cys2040Tyr,pathogenic
P00451:p.Gly2045Glu,pathogenic
P00451:p.Gly2045Val,pathogenic
P00451:p.His2050Arg,benign
P00451:p.Ile2051Ser,pathogenic
P00451:p.Ile2056Asn,pathogenic
P00451:p.Ala2058Pro,pathogenic
P00451:p.Trp2065Arg,pathogenic
P00451:p.Pro2067Leu,pathogenic
P00451:p.Ala2070Val,pathogenic
P00451:p.Ser2082Asn,pathogenic
P00451:p.Ser2088Phe,pathogenic
P00451:p.Asp2093Gly,pathogenic
P00451:p.Asp2093Tyr,pathogenic
P00451:p.His2101Asp,pathogenic
P00451:p.Thr2105Asn,pathogenic
P00451:p.Gln2106Glu,pathogenic
P00451:p.Gln2106Pro,pathogenic
P00451:p.Gln2106Arg,pathogenic
P00451:p.Gly2107Ser,pathogenic
P00451:p.Arg2109Cys,pathogenic
P00451:p.Ile2117Phe,pathogenic
P00451:p.Ile2117Ser,pathogenic
P00451:p.Gln2119Arg,pathogenic
P00451:p.Phe2120Cys,pathogenic
P00451:p.Phe2120Leu,pathogenic
P00451:p.Tyr2124Cys,pathogenic
P00451:p.Lys2129Gln,benign
P00451:p.Arg2135Pro,pathogenic
P00451:p.Ser2138Tyr,pathogenic
P00451:p.Thr2141Asn,pathogenic
P00451:p.Met2143Val,pathogenic
P00451:p.Phe2145Cys,pathogenic
P00451:p.Asn2148Ser,pathogenic
P00451:p.Asn2157Asp,pathogenic
P00451:p.Pro2162Leu,pathogenic
P00451:p.Arg2169Cys,pathogenic
P00451:p.Arg2169His,pathogenic
P00451:p.Pro2172Leu,pathogenic
P00451:p.Pro2172Gln,pathogenic
P00451:p.Pro2172Arg,pathogenic
P00451:p.Thr2173Ala,pathogenic
P00451:p.Thr2173Ile,pathogenic
P00451:p.His2174Asp,pathogenic
P00451:p.Arg2178Cys,pathogenic
P00451:p.Arg2178His,pathogenic
P00451:p.Arg2178Leu,pathogenic
P00451:p.Arg2182Cys,pathogenic
P00451:p.Arg2182His,pathogenic
P00451:p.Arg2182Pro,pathogenic
P00451:p.Met2183Arg,pathogenic
P00451:p.Met2183Val,pathogenic
P00451:p.Leu2185Ser,pathogenic
P00451:p.Leu2185Trp,pathogenic
P00451:p.Ser2192Ile,pathogenic
P00451:p.Cys2193Gly,pathogenic
P00451:p.Pro2196Arg,pathogenic
P00451:p.Gly2198Val,pathogenic
P00451:p.Glu2200Asp,pathogenic
P00451:p.Ile2204Thr,pathogenic
P00451:p.Ile2209Asn,pathogenic
P00451:p.Ala2211Pro,pathogenic
P00451:p.Ala2220Pro,pathogenic
P00451:p.Pro2224Leu,pathogenic
P00451:p.Arg2228Gly,pathogenic
P00451:p.Arg2228Leu,pathogenic
P00451:p.Arg2228Pro,pathogenic
P00451:p.Arg2228Gln,pathogenic
P00451:p.Leu2229Phe,pathogenic
P00451:p.His2230Asn,benign
P00451:p.Trp2248Cys,pathogenic
P00451:p.Trp2248Ser,pathogenic
P00451:p.Val2251Ala,pathogenic
P00451:p.Val2251Glu,pathogenic
P00451:p.Val2262Ile,benign
P00451:p.Thr2264Ala,pathogenic
P00451:p.Gln2265Arg,pathogenic
P00451:p.Ser2273Asn,benign
P00451:p.Phe2279Cys,pathogenic
P00451:p.Phe2279Ile,pathogenic
P00451:p.Ile2281Thr,pathogenic
P00451:p.Ile2281Val,benign
P00451:p.Asp2286Gly,pathogenic
P00451:p.Gln2289His,benign
P00451:p.Trp2290Leu,pathogenic
P00451:p.Gly2304Val,pathogenic
P00451:p.Asp2307Ala,pathogenic
P00451:p.Pro2318Ser,benign
P00451:p.Pro2319Leu,pathogenic
P00451:p.Pro2319Ser,pathogenic
P00451:p.Arg2323Cys,pathogenic
P00451:p.Arg2323Gly,pathogenic
P00451:p.Arg2323His,pathogenic
P00451:p.Arg2323Leu,pathogenic
P00451:p.Arg2326Gly,pathogenic
P00451:p.Arg2326Leu,pathogenic
P00451:p.Arg2326Pro,pathogenic
P00451:p.Arg2326Gln,pathogenic
P00451:p.Ile2327Arg,benign
P00451:p.Ile2327Val,benign
P00451:p.His2328Ser,benign
P00451:p.Gln2330Pro,pathogenic
P00451:p.Trp2332Arg,pathogenic
P00451:p.Val2333Lys,benign
P00451:p.Val2333Met,benign
P00451:p.His2334Glu,benign
P00451:p.Gln2335Arg,benign
P00451:p.Ile2336Phe,pathogenic
P00451:p.Ile2336Lys,benign
P00451:p.Ala2337Lys,benign
P00451:p.Leu2338Lys,benign
P00451:p.Arg2339Asn,benign
P00451:p.Arg2339Thr,pathogenic
P00451:p.Met2340Ile,benign
P00451:p.Met2340Thr,benign
P00451:p.Glu2341Asn,benign
P00451:p.Val2342Ser,benign
P00451:p.Leu2343Pro,benign
P00451:p.Gly2344Cys,pathogenic
P00451:p.Gly2344Asp,pathogenic
P00451:p.Gly2344Arg,benign
P00451:p.Gly2344Ser,pathogenic
P00451:p.Cys2345Ala,benign
P00451:p.Cys2345Ser,pathogenic
P00451:p.Cys2345Tyr,pathogenic
P00451:p.Asp2349Glu,benign
P13569:p.Met1Ile,benign
P13569:p.Met1Asn,benign
P13569:p.Gln2Ile,benign
P13569:p.Gln2Leu,benign
P13569:p.Arg3Lys,benign
P13569:p.Arg3Pro,benign
P13569:p.Ser4Asn,benign
P13569:p.Pro5Ser,benign
P13569:p.Leu6Phe,benign
P13569:p.Leu6Val,benign
P13569:p.Glu7Asp,benign
P13569:p.Glu7Leu,benign
P13569:p.Ala9Phe,benign
P13569:p.Ala9Val,benign
P13569:p.Ser10Gly,benign
P13569:p.Val11Leu,benign
P13569:p.Val12Ile,benign
P13569:p.Ser13Ala,benign
P13569:p.Ser13Phe,pathogenic
P13569:p.Lys14Ser,benign
P13569:p.Leu15Ile,benign
P13569:p.Leu15Val,benign
P13569:p.Phe16Tyr,benign
P13569:p.Ile23Leu,benign
P13569:p.Ile23Val,benign
P13569:p.Arg25Lys,benign
P13569:p.Arg25Gln,benign
P13569:p.Tyr28Phe,benign
P13569:p.Arg29Ser,benign
P13569:p.Arg31Lys,benign
P13569:p.Arg31Leu,pathogenic
P13569:p.Glu33Leu,benign
P13569:p.Leu34Phe,benign
P13569:p.Leu34Ser,benign
P13569:p.Ser35Ile,benign
P13569:p.Asp36Asn,benign
P13569:p.Ile37Leu,benign
P13569:p.Ser42Phe,pathogenic
P13569:p.Val43Ala,benign
P13569:p.Asp44Gly,pathogenic
P13569:p.Asp44Asn,benign
P13569:p.Asn48Tyr,benign
P13569:p.Ser50Tyr,pathogenic
P13569:p.Arg55Thr,benign
P13569:p.Glu56Arg,benign
P13569:p.Trp57Gly,pathogenic
P13569:p.Asp58Val,benign
P13569:p.Pro67Leu,pathogenic
P13569:p.Leu73Ile,benign
P13569:p.Arg74Trp,pathogenic
P13569:p.Arg75Pro,benign
P13569:p.Cys76Pro,benign
P13569:p.Phe77Lys,benign
P13569:p.Trp79Lys,benign
P13569:p.Arg80Ile,benign
P13569:p.Phe81Pro,benign
P13569:p.Met82Gly,benign
P13569:p.Met82Thr,benign
P13569:p.Tyr84Arg,benign
P13569:p.Gly85Glu,pathogenic
P13569:p.Gly85Ser,benign
P13569:p.Ile86Leu,benign
P13569:p.Phe87Leu,pathogenic
P13569:p.Phe87Pro,benign
P13569:p.Leu88Val,benign
P13569:p.Leu90Ile,benign
P13569:p.Leu90Ser,benign
P13569:p.Gly91Gln,benign
P13569:p.Gly91Arg,pathogenic
P13569:p.Glu92Lys,pathogenic
P13569:p.Gln98Arg,pathogenic
P13569:p.Ile105Ser,pathogenic
P13569:p.Tyr109Cys,pathogenic
P13569:p.Asp110His,pathogenic
P13569:p.Pro111Leu,pathogenic
P13569:p.Glu115Thr,benign
P13569:p.Arg117Cys,pathogenic
P13569:p.Arg117His,pathogenic
P13569:p.Arg117Leu,pathogenic
P13569:p.Arg117Pro,pathogenic
P13569:p.Ala120Thr,pathogenic
P13569:p.His139Arg,pathogenic
P13569:p.Ala141Asp,pathogenic
P13569:p.Ile148Thr,pathogenic
P13569:p.Gly149Arg,pathogenic
P13569:p.Gly178Arg,pathogenic
P13569:p.Leu183Phe,benign
P13569:p.Glu193Lys,pathogenic
P13569:p.His199Gln,pathogenic
P13569:p.His199Tyr,pathogenic
P13569:p.Ala204Val,benign
P13569:p.Pro205Ser,pathogenic
P13569:p.Leu206Trp,pathogenic
P13569:p.Ala223Val,benign
P13569:p.Cys225Arg,pathogenic
P13569:p.Met244Lys,pathogenic
P13569:p.Ser256Asn,benign
P13569:p.Arg258Gly,pathogenic
P13569:p.Met284Ile,benign
P13569:p.Asn287Tyr,pathogenic
P13569:p.Arg297Gln,pathogenic
P13569:p.Tyr301Cys,pathogenic
P13569:p.Ser307Asn,pathogenic
P13569:p.Phe311Leu,pathogenic
P13569:p.Gly314Glu,pathogenic
P13569:p.Gly314Arg,pathogenic
P13569:p.Ile332Ala,benign
P13569:p.Ile332Val,benign
P13569:p.Arg334Trp,pathogenic
P13569:p.Ile336Lys,pathogenic
P13569:p.Thr338Ile,pathogenic
P13569:p.Leu346Pro,pathogenic
P13569:p.Arg347His,pathogenic
P13569:p.Arg347Leu,pathogenic
P13569:p.Arg347Pro,pathogenic
P13569:p.Arg352Gln,pathogenic
P13569:p.Gln359Lys,pathogenic
P13569:p.Thr388Ala,benign
P13569:p.Ala412Val,benign
P13569:p.Asn415Ser,benign
P13569:p.Asn416Ser,benign
P13569:p.Asn417Ser,benign
P13569:p.Lys420Glu,benign
P13569:p.Thr421Ala,benign
P13569:p.Gly424Asp,benign
P13569:p.Asp425His,benign
P13569:p.Asp425Asn,benign
P13569:p.Asp426Asn,benign
P13569:p.Ser427Asn,benign
P13569:p.Ala455Glu,pathogenic
P13569:p.Val456Phe,pathogenic
P13569:p.Gly458Val,pathogenic
P13569:p.Val470Met,benign
P13569:p.Gly480Cys,pathogenic
P13569:p.Ser492Phe,pathogenic
P13569:p.Glu504Gln,pathogenic
P13569:p.Asp513Gly,pathogenic
P13569:p.Tyr515Cys,benign
P13569:p.Val520Phe,pathogenic
P13569:p.Lys522Asn,benign
P13569:p.Phe533Leu,benign
P13569:p.Glu535Ala,benign
P13569:p.Gly544Val,pathogenic
P13569:p.Ser549Ile,pathogenic
P13569:p.Ser549Asn,pathogenic
P13569:p.Ser549Arg,pathogenic
P13569:p.Gly551Asp,pathogenic
P13569:p.Gly551Ser,pathogenic
P13569:p.Arg553Gln,pathogenic
P13569:p.Leu558Ser,pathogenic
P13569:p.Ala559Thr,pathogenic
P13569:p.Arg560Lys,pathogenic
P13569:p.Arg560Ser,pathogenic
P13569:p.Arg560Thr,pathogenic
P13569:p.Val562Leu,pathogenic
P13569:p.Tyr563Asn,pathogenic
P13569:p.Tyr569Cys,pathogenic
P13569:p.Tyr569Asp,pathogenic
P13569:p.Tyr569His,pathogenic
P13569:p.Leu571Ser,pathogenic
P13569:p.Asp572Asn,pathogenic
P13569:p.Pro574His,pathogenic
P13569:p.Asp579Gly,pathogenic
P13569:p.Val591Ile,benign
P13569:p.Ile601Phe,pathogenic
P13569:p.Leu610Ser,pathogenic
P13569:p.Ala613Thr,pathogenic
P13569:p.Asp614Gly,pathogenic
P13569:p.Ile618Thr,pathogenic
P13569:p.Leu619Ser,pathogenic
P13569:p.His620Pro,pathogenic
P13569:p.His620Gln,pathogenic
P13569:p.Ser624Ile,benign
P13569:p.Gly628Arg,pathogenic
P13569:p.Leu633Pro,pathogenic
P13569:p.Gln637Arg,benign
P13569:p.Cys647Tyr,benign
P13569:p.Asp648Val,pathogenic
P13569:p.Asp651Asn,pathogenic
P13569:p.Ala655Ser,benign
P13569:p.Thr665Ser,pathogenic
P13569:p.His667Arg,benign
P13569:p.Ala675Thr,benign
P13569:p.Val677Ile,benign
P13569:p.Trp679Arg,benign
P13569:p.Ser686Pro,benign
P13569:p.Phe693Leu,benign
P13569:p.Glu695Asp,benign
P13569:p.Pro704Ser,benign
P13569:p.Ile708Val,benign
P13569:p.Gln715His,benign
P13569:p.Gln715Pro,benign
P13569:p.Asp727Asn,benign
P13569:p.Leu732Phe,benign
P13569:p.Leu732Ser,benign
P13569:p.Leu736Val,benign
P13569:p.Val739Ile,benign
P13569:p.Ala747Val,benign
P13569:p.Arg751His,benign
P13569:p.Val754Met,pathogenic
P13569:p.Ser756Asn,benign
P13569:p.Thr760Ala,benign
P13569:p.Thr760Met,benign
P13569:p.Ala763Leu,benign
P13569:p.Ala763Val,benign
P13569:p.Arg766Met,pathogenic
P13569:p.Leu772Met,benign
P13569:p.His775Gln,benign
P13569:p.Val777Ile,benign
P13569:p.Gly780Asp,benign
P13569:p.Gln781His,benign
P13569:p.Asn782Ser,benign
P13569:p.Ile783Gly,benign
P13569:p.Ile783Val,benign
P13569:p.Thr788Ala,benign
P13569:p.Arg792Gly,pathogenic
P13569:p.Val794Met,benign
P13569:p.Ala800Gly,pathogenic
P13569:p.Ile807Met,pathogenic
P13569:p.Glu822Lys,pathogenic
P13569:p.Phe833Leu,benign
P13569:p.Asp836Asn,benign
P13569:p.Val855Leu,benign
P13569:p.Leu859Ser,benign
P13569:p.Ile860Asn,benign
P13569:p.Phe861Leu,benign
P13569:p.Leu863Pro,benign
P13569:p.Ile864Phe,benign
P13569:p.Trp865Thr,benign
P13569:p.Cys866Tyr,pathogenic
P13569:p.Leu867Ile,benign
P13569:p.Val868Gly,benign
P13569:p.Ile869Asn,benign
P13569:p.Phe870Ser,benign
P13569:p.Leu871Ile,benign
P13569:p.Ala872Ser,benign
P13569:p.Glu873Lys,benign
P13569:p.Val874Phe,benign
P13569:p.Ala875Gly,benign
P13569:p.Ala876Cys,benign
P13569:p.Ser877Gln,benign
P13569:p.Leu878Ile,benign
P13569:p.Val879Thr,benign
P13569:p.Val880Ile,benign
P13569:p.Val880Leu,benign
P13569:p.Leu881Ser,benign
P13569:p.Trp882Leu,benign
P13569:p.Leu883Phe,benign
P13569:p.Gly885Arg,benign
P13569:p.Gly885Tyr,benign
P13569:p.Asn886Ser,benign
P13569:p.Pro888Arg,benign
P13569:p.Pro888Ser,benign
P13569:p.Leu889Phe,benign
P13569:p.Leu889Pro,benign
P13569:p.His897Tyr,benign
P13569:p.Ser909Asn,benign
P13569:p.Ser909Arg,benign
P13569:p.Tyr913Cys,pathogenic
P13569:p.Tyr917Cys,pathogenic
P13569:p.Met929Leu,benign
P13569:p.Ile947Met,benign
P13569:p.His949Tyr,pathogenic
P13569:p.His950Asn,benign
P13569:p.Met952Ile,pathogenic
P13569:p.Leu997Phe,pathogenic
P13569:p.Ile1005Arg,pathogenic
P13569:p.Ala1006Glu,pathogenic
P13569:p.Ala1009Ser,benign
P13569:p.Pro1013Leu,pathogenic
P13569:p.Phe1016Leu,benign
P13569:p.Val1017Leu,benign
P13569:p.Val1024Ala,benign
P13569:p.Ile1027Val,benign
P13569:p.Met1028Ile,pathogenic
P13569:p.Met1028Leu,benign
P13569:p.Glu1046Ala,benign
P13569:p.Phe1052Val,pathogenic
P13569:p.Gly1061Arg,pathogenic
P13569:p.Leu1065Ile,benign
P13569:p.Leu1065Pro,pathogenic
P13569:p.Leu1065Arg,pathogenic
P13569:p.Arg1066Cys,pathogenic
P13569:p.Arg1066His,pathogenic
P13569:p.Arg1066Leu,pathogenic
P13569:p.Ala1067Thr,pathogenic
P13569:p.Arg1070Pro,pathogenic
P13569:p.Arg1070Gln,pathogenic
P13569:p.Arg1070Trp,pathogenic
P13569:p.Gln1071Pro,pathogenic
P13569:p.Pro1072Leu,pathogenic
P13569:p.Leu1077Pro,pathogenic
P13569:p.His1085Arg,pathogenic
P13569:p.Asn1088Ser,benign
P13569:p.Ser1094Ala,benign
P13569:p.Trp1098Arg,pathogenic
P13569:p.Met1101Lys,pathogenic
P13569:p.Met1101Arg,pathogenic
P13569:p.Met1105Ile,benign
P13569:p.Ile1109Met,benign
P13569:p.Ile1117Ser,benign
P13569:p.Arg1128Thr,benign
P13569:p.Val1129Ile,benign
P13569:p.Met1137Val,pathogenic
P13569:p.Asp1152His,pathogenic
P13569:p.Glu1172Asp,benign
P13569:p.Glu1172Gly,benign
P13569:p.Pro1175Ser,benign
P13569:p.Lys1177Arg,benign
P13569:p.Pro1181Ala,benign
P13569:p.Lys1183Arg,benign
P13569:p.Ser1188Leu,benign
P13569:p.Val1190Leu,benign
P13569:p.Ile1192Val,benign
P13569:p.Asp1201Asn,benign
P13569:p.Asp1202Tyr,benign
P13569:p.Val1212Ile,benign
P13569:p.Thr1216Ser,benign
P13569:p.Thr1220Ile,benign
P13569:p.Thr1220Val,benign
P13569:p.Ala1225Pro,benign
P13569:p.Ile1234Val,pathogenic
P13569:p.Ser1235Arg,pathogenic
P13569:p.Gly1244Glu,pathogenic
P13569:p.Gly1249Glu,pathogenic
P13569:p.Ser1251Asn,pathogenic
P13569:p.Ser1255Pro,pathogenic
P13569:p.Phe1257Leu,benign
P13569:p.Glu1264Lys,benign
P13569:p.Asp1270Asn,pathogenic
P13569:p.Ile1277Val,benign
P13569:p.Trp1282Arg,pathogenic
P13569:p.Arg1283Met,pathogenic
P13569:p.Phe1286Ser,pathogenic
P13569:p.Gln1291His,pathogenic
P13569:p.Gln1291Arg,pathogenic
P13569:p.Ser1297Thr,benign
P13569:p.Asn1303His,pathogenic
P13569:p.Asn1303Lys,pathogenic
P13569:p.Ile1315Val,benign
P13569:p.Lys1317Glu,benign
P13569:p.Ser1326Thr,benign
P13569:p.Gly1349Asp,pathogenic
P13569:p.Ala1364Val,pathogenic
P13569:p.Thr1380Ala,benign
P13569:p.Thr1387Ala,benign
P13569:p.Val1397Glu,pathogenic
P13569:p.Arg1434Lys,benign
P13569:p.Arg1438Gln,benign
P13569:p.Pro1443His,benign
P13569:p.Pro1443Leu,benign
P13569:p.Val1447Met,benign
P13569:p.Cys1458Gly,benign
P13569:p.Cys1458Tyr,benign
P13569:p.Ser1460Thr,benign
P13569:p.Lys1461Pro,benign
P13569:p.Lys1461Gln,benign
P13569:p.Lys1461Arg,benign
P13569:p.Ala1466Ser,benign
P13569:p.Gln1476His,benign
P13569:p.Asp1477Glu,benign
Q14524:p.Phe4Leu,benign
Q14524:p.Phe4Met,benign
Q14524:p.Leu5Glu,benign
Q14524:p.Leu6Phe,benign
Q14524:p.Arg8Ile,benign
Q14524:p.Gly9Val,pathogenic
Q14524:p.Ser11Asn,benign
Q14524:p.Ser12Gly,benign
Q14524:p.Ser12Asn,benign
Q14524:p.Arg14His,benign
Q14524:p.Arg18Pro,benign
Q14524:p.Arg18Trp,pathogenic
Q14524:p.Ala22Val,benign
Q14524:p.Ala23Glu,benign
Q14524:p.Arg27His,pathogenic
Q14524:p.Arg27Gln,benign
Q14524:p.Met28Ile,benign
Q14524:p.Ala29Val,benign
Q14524:p.Glu30Ala,benign
Q14524:p.Gln32His,benign
Q14524:p.Arg34Thr,benign
Q14524:p.Gly35Ser,benign
Q14524:p.Gly35Val,benign
Q14524:p.Ser36Lys,benign
Q14524:p.Thr37Ala,benign
Q14524:p.Thr37Lys,benign
Q14524:p.Thr38Ala,benign
Q14524:p.Thr38Val,benign
Q14524:p.Leu39Arg,benign
Q14524:p.Leu39Ser,benign
Q14524:p.Gln40Glu,benign
Q14524:p.Glu41Lys,benign
Q14524:p.Glu41Gln,benign
Q14524:p.Ser42His,benign
Q14524:p.Arg43Gln,pathogenic
Q14524:p.Gly45Gln,benign
Q14524:p.Leu46Lys,benign
Q14524:p.Pro47Asp,benign
Q14524:p.Glu48Lys,benign
Q14524:p.Glu48Gln,benign
Q14524:p.Ala51Lys,benign
Q14524:p.Arg53Gln,benign
Q14524:p.Gln59Lys,benign
Q14524:p.Ser61Cys,benign
Q14524:p.Lys62Asn,benign
Q14524:p.Lys63Gln,benign
Q14524:p.Asp66Lys,benign
Q14524:p.Leu67Phe,benign
Q14524:p.Asn70Glu,benign
Q14524:p.Asn70Ser,benign
Q14524:p.Pro71Leu,benign
Q14524:p.Gln73Ala,benign
Q14524:p.Gln73Arg,benign
Q14524:p.Thr89Asn,benign
Q14524:p.Gln90His,benign
Q14524:p.Lys91Arg,benign
Q14524:p.Val95Ile,pathogenic
Q14524:p.Leu96Pro,benign
Q14524:p.Val113Ile,benign
Q14524:p.Ile120Val,benign
Q14524:p.Val125Leu,pathogenic
Q14524:p.Lys126Glu,pathogenic
Q14524:p.Val129Leu,benign
Q14524:p.His130Ser,benign
Q14524:p.Ser131Thr,benign
Q14524:p.Leu132Tyr,benign
Q14524:p.Phe133Leu,benign
Q14524:p.Asn134His,benign
Q14524:p.Asn134Ser,benign
Q14524:p.Met135Thr,benign
Q14524:p.Met138Ile,pathogenic
Q14524:p.Glu161Lys,pathogenic
Q14524:p.Tyr162His,benign
Q14524:p.Phe181Ser,benign
Q14524:p.Thr187Ile,pathogenic
Q14524:p.Asp191Gly,benign
Q14524:p.Ile202Val,benign
Q14524:p.Thr206Val,benign
Q14524:p.Thr207Ser,benign
Q14524:p.Phe209Asn,benign
Q14524:p.Val210Ile,benign
Q14524:p.Asp211Lys,benign
Q14524:p.Leu212Pro,pathogenic
Q14524:p.Val215Leu,benign
Q14524:p.Thr220Ile,pathogenic
Q14524:p.Arg225Gln,pathogenic
Q14524:p.Arg225Trp,pathogenic
Q14524:p.Ala226Val,pathogenic
Q14524:p.Ile230Val,pathogenic
Q14524:p.Ser234Pro,benign
Q14524:p.Gln245Lys,pathogenic
Q14524:p.Val255Asp,benign
Q14524:p.Cys280Arg,benign
Q14524:p.Arg282His,pathogenic
Q14524:p.Asn283Asp,benign
Q14524:p.Ala286Glu,benign
Q14524:p.Thr290Ile,benign
Q14524:p.Val294Met,pathogenic
Q14524:p.Gly298Ser,pathogenic
Q14524:p.Leu299Ser,benign
Q14524:p.Glu302Asp,benign
Q14524:p.Ser309Asn,benign
Q14524:p.Leu316Ile,benign
Q14524:p.Gly319Ser,pathogenic
Q14524:p.Leu325Arg,pathogenic
Q14524:p.Pro336Leu,pathogenic
Q14524:p.Glu337Lys,benign
Q14524:p.Gly351Val,pathogenic
Q14524:p.Thr353Ile,pathogenic
Q14524:p.Asp356Asn,pathogenic
Q14524:p.Leu365His,benign
Q14524:p.Arg367Cys,pathogenic
Q14524:p.Arg367His,pathogenic
Q14524:p.Met369Lys,pathogenic
Q14524:p.Thr370Ala,benign
Q14524:p.Leu404Gln,pathogenic
Q14524:p.Asn406Lys,pathogenic
Q14524:p.Asn406Ser,pathogenic
Q14524:p.Val411Met,pathogenic
Q14524:p.Glu428Lys,pathogenic
Q14524:p.Glu428Gln,benign
Q14524:p.Met440Leu,benign
Q14524:p.His445Asp,pathogenic
Q14524:p.Val453Ala,benign
Q14524:p.Val456Met,benign
Q14524:p.Arg458His,benign
Q14524:p.Glu462Lys,pathogenic
Q14524:p.Pro468Ser,benign
Q14524:p.Asn470Lys,pathogenic
Q14524:p.Asn470Thr,benign
Q14524:p.Ser471Ile,benign
Q14524:p.Ser471Asn,benign
Q14524:p.Ser471Thr,benign
Q14524:p.Glu473Asp,benign
Q14524:p.Arg481Gln,benign
Q14524:p.Met482Ile,benign
Q14524:p.Glu491Asp,benign
Q14524:p.Leu494Phe,benign
Q14524:p.Ala505Val,benign
Q14524:p.Met506Val,benign
Q14524:p.His508Arg,benign
Q14524:p.Thr512Ile,pathogenic
Q14524:p.Arg513His,benign
Q14524:p.Gly514Cys,pathogenic
Q14524:p.Gly514Ser,benign
Q14524:p.Met520Val,benign
Q14524:p.Phe532Cys,pathogenic
Q14524:p.Ala541Thr,benign
Q14524:p.Glu553Asp,benign
Q14524:p.His558Arg,benign
Q14524:p.Thr559Ile,benign
Q14524:p.Leu567Gln,pathogenic
Q14524:p.Arg569Gln,benign
Q14524:p.Thr570Pro,benign
Q14524:p.Ser571Gly,benign
Q14524:p.Ala572Asp,pathogenic
Q14524:p.Ser577Gly,benign
Q14524:p.Ser577Asn,benign
Q14524:p.Pro578Ile,benign
Q14524:p.Pro578Ser,benign
Q14524:p.Thr580Ala,benign
Q14524:p.Ser581Ala,benign
Q14524:p.Ala582Thr,benign
Q14524:p.Ala586Val,benign
Q14524:p.His588Asn,benign
Q14524:p.Lys591Arg,benign
Q14524:p.Asn592Ser,benign
Q14524:p.Leu604Val,benign
Q14524:p.Gly605Arg,benign
Q14524:p.Asp608Asn,benign
Q14524:p.Pro609Leu,benign
Q14524:p.Gly615Glu,pathogenic
Q14524:p.His617Arg,benign
Q14524:p.Leu619Phe,pathogenic
Q14524:p.Arg620His,benign
Q14524:p.Val622Met,benign
Q14524:p.His626Arg,benign
Q14524:p.Pro628Leu,benign
Q14524:p.Glu636Asp,benign
Q14524:p.Pro637Leu,pathogenic
Q14524:p.Gly639Arg,pathogenic
Q14524:p.Gln641Arg,benign
Q14524:p.Leu643Val,benign
Q14524:p.Ser645Pro,benign
Q14524:p.Ala647Val,benign
Q14524:p.Pro648Leu,pathogenic
Q14524:p.Val650Ile,benign
Q14524:p.Glu655Lys,pathogenic
Q14524:p.Gly657Glu,benign
Q14524:p.Val668Ile,benign
Q14524:p.Arg680His,pathogenic
Q14524:p.Arg680Gln,benign
Q14524:p.His681Pro,pathogenic
Q14524:p.His681Arg,benign
Q14524:p.Leu690Phe,benign
Q14524:p.Ala691Thr,benign
Q14524:p.Tyr694Phe,benign
Q14524:p.Met704Ile,benign
Q14524:p.Met704Thr,benign
Q14524:p.Ile706Val,benign
Q14524:p.Gly709Lys,benign
Q14524:p.Lys711Arg,benign
Q14524:p.Leu712Phe,benign
Q14524:p.Met715Thr,benign
Q14524:p.Thr719Ala,benign
Q14524:p.Ala735Glu,pathogenic
Q14524:p.Ala735Val,pathogenic
Q14524:p.Ser743Thr,benign
Q14524:p.Glu747Asp,benign
Q14524:p.Gly752Arg,pathogenic
Q14524:p.Phe766Ser,benign
Q14524:p.Ile790Val,benign
Q14524:p.Ser802Gly,benign
Q14524:p.Arg814Gln,pathogenic
Q14524:p.Phe851Leu,pathogenic
Q14524:p.Asp870His,benign
Q14524:p.Arg878Cys,pathogenic
Q14524:p.Phe892Ile,pathogenic
Q14524:p.Cys896Ser,pathogenic
Q14524:p.Ser910Leu,pathogenic
Q14524:p.Leu939Arg,benign
Q14524:p.Ser941Asn,pathogenic
Q14524:p.Arg954Gly,benign
Q14524:p.Met956Leu,benign
Q14524:p.Arg965Cys,pathogenic
Q14524:p.Arg971Cys,pathogenic
Q14524:p.Val973Ile,benign
Q14524:p.Arg975Trp,benign
Q14524:p.Leu984Ile,benign
Q14524:p.Leu984Val,benign
Q14524:p.Gln987Arg,benign
Q14524:p.Gln990Lys,benign
Q14524:p.Ala997Ser,pathogenic
Q14524:p.Ala997Thr,benign
Q14524:p.Gln998His,benign
Q14524:p.Gln998Pro,benign
Q14524:p.Gln998Arg,benign
Q14524:p.Gly999Ser,benign
Q14524:p.Ala1006Thr,benign
Q14524:p.Thr1007Ala,benign
Q14524:p.Thr1007Asn,benign
Q14524:p.Tyr1009His,benign
Q14524:p.Tyr1009Arg,benign
Q14524:p.Tyr1009Ser,benign
Q14524:p.Pro1011Ala,benign
Q14524:p.Pro1011Thr,benign
Q14524:p.Thr1016Ser,benign
Q14524:p.Thr1016Val,benign
Q14524:p.Glu1017Asp,benign
Q14524:p.Val1019Ala,benign
Q14524:p.Thr1022Ala,benign
Q14524:p.Arg1023His,pathogenic
Q14524:p.Gly1031Asp,benign
Q14524:p.Gly1031Ser,benign
Q14524:p.Glu1032Lys,benign
Q14524:p.Gln1033Arg,benign
Q14524:p.Pro1034Leu,benign
Q14524:p.Gln1036Arg,benign
Q14524:p.Pro1039Ala,benign
Q14524:p.Gly1040Arg,benign
Q14524:p.Pro1042Ala,benign
Q14524:p.Pro1042Ser,benign
Q14524:p.Pro1044Thr,benign
Q14524:p.Glu1053Lys,pathogenic
Q14524:p.Asp1057Glu,benign
Q14524:p.Glu1060Asp,benign
Q14524:p.Leu1067Gln,benign
Q14524:p.Gly1068Asp,benign
Q14524:p.Thr1069Met,pathogenic
Q14524:p.Thr1069Pro,benign
Q14524:p.Ser1074Cys,benign
Q14524:p.Pro1081Val,benign
Q14524:p.Gly1084Ala,benign
Q14524:p.Gly1084Asp,benign
Q14524:p.Gly1084Ser,pathogenic
Q14524:p.Pro1086His,benign
Q14524:p.Ala1088Pro,benign
Q14524:p.Ala1088Ser,benign
Q14524:p.Pro1089His,benign
Q14524:p.Pro1089Tyr,benign
Q14524:p.Pro1090Leu,benign
Q14524:p.Pro1090Gln,benign
Q14524:p.Asp1091Glu,benign
Q14524:p.Ser1092Pro,benign
Q14524:p.Thr1094Ala,benign
Q14524:p.Ala1100Glu,benign
Q14524:p.Ala1102Gly,benign
Q14524:p.Ala1102Thr,benign
Q14524:p.Glu1107Gly,benign
Q14524:p.Ala1108Thr,benign
Q14524:p.Ala1110Thr,benign
Q14524:p.Ala1110Val,benign
Q14524:p.Asp1114Asn,pathogenic
Q14524:p.Asp1114Tyr,benign
Q14524:p.Trp1115Arg,benign
Q14524:p.Arg1116Gln,benign
Q14524:p.Gln1118Glu,benign
Q14524:p.Gln1118His,benign
Q14524:p.Trp1119Gln,benign
Q14524:p.Trp1119Arg,benign
Q14524:p.Ala1121Glu,benign
Q14524:p.Ala1121Thr,benign
Q14524:p.Ala1121Val,benign
Q14524:p.Gln1124Pro,benign
Q14524:p.Gln1124Arg,benign
Q14524:p.Ala1125Ser,benign
Q14524:p.Gly1127Arg,benign
Q14524:p.Gly1129Ser,benign
Q14524:p.Thr1131Ile,pathogenic
Q14524:p.Pro1132His,benign
Q14524:p.Pro1132Gln,benign
Q14524:p.Cys1136Gly,benign
Q14524:p.Cys1136Tyr,benign
Q14524:p.Glu1149Asp,benign
Q14524:p.Gln1159Glu,benign
Q14524:p.Asp1163Glu,benign
Q14524:p.Ala1180Met,benign
Q14524:p.Thr1184Ser,benign
Q14524:p.Ala1186Ser,benign
Q14524:p.Arg1193Gln,pathogenic
Q14524:p.His1200Arg,benign
Q14524:p.Glu1225Lys,pathogenic
Q14524:p.Glu1231Lys,pathogenic
Q14524:p.Arg1232Trp,pathogenic
Q14524:p.Lys1236Asn,pathogenic
Q14524:p.Leu1238Val,benign
Q14524:p.Glu1240Gln,pathogenic
Q14524:p.Phe1250Leu,pathogenic
Q14524:p.Gly1262Ser,pathogenic
Q14524:p.Asp1275Asn,pathogenic
Q14524:p.Val1284Ile,benign
Q14524:p.Phe1293Ser,pathogenic
Q14524:p.Glu1295Lys,pathogenic
Q14524:p.Pro1298Leu,pathogenic
Q14524:p.Thr1304Met,pathogenic
Q14524:p.Gly1319Val,pathogenic
Q14524:p.Asn1325Ser,pathogenic
Q14524:p.Ala1330Pro,pathogenic
Q14524:p.Ala1330Thr,pathogenic
Q14524:p.Pro1332Leu,pathogenic
Q14524:p.Ser1333Tyr,pathogenic
Q14524:p.Asn1336Thr,benign
Q14524:p.Phe1344Ser,pathogenic
Q14524:p.Ser1382Ile,pathogenic
Q14524:p.Gln1383Glu,benign
Q14524:p.Leu1387Phe,benign
Q14524:p.Leu1389Met,benign
Q14524:p.Leu1389Val,benign
Q14524:p.Val1405Leu,pathogenic
Q14524:p.Gly1406Arg,pathogenic
Q14524:p.Gly1408Arg,pathogenic
Q14524:p.Arg1432Gly,pathogenic
Q14524:p.Pro1438Leu,pathogenic
Q14524:p.Tyr1442Asp,benign
Q14524:p.Ile1452Val,benign
Q14524:p.Ser1458Tyr,pathogenic
Q14524:p.Phe1473Cys,pathogenic
Q14524:p.Gly1481Glu,pathogenic
Q14524:p.Phe1486Leu,pathogenic
Q14524:p.Tyr1494Asn,pathogenic
Q14524:p.Leu1501Val,pathogenic
Q14524:p.Gly1502Ser,pathogenic
Q14524:p.Arg1512Trp,pathogenic
Q14524:p.Asn1515Ser,benign
Q14524:p.Lys1516Gln,benign
Q14524:p.Tyr1517Ala,benign
Q14524:p.Gln1518Pro,benign
Q14524:p.Ile1521Val,benign
Q14524:p.Ile1524Gly,benign
Q14524:p.Ile1524Met,benign
Q14524:p.Ile1524Val,benign
Q14524:p.Val1525Gly,benign
Q14524:p.Thr1526Pro,benign
Q14524:p.Lys1527Arg,pathogenic
Q14524:p.Lys1527Ser,benign
Q14524:p.Gln1528Arg,benign
Q14524:p.Ala1529Pro,benign
Q14524:p.Ile1557Val,benign
Q14524:p.Ala1561Ser,benign
Q14524:p.Ala1561Thr,benign
Q14524:p.Leu1565Val,benign
Q14524:p.Ala1569Pro,pathogenic
Q14524:p.Val1577Phe,benign
Q14524:p.Leu1579Met,benign
Q14524:p.Asp1595Asn,pathogenic
Q14524:p.Ser1609Trp,pathogenic
Q14524:p.Thr1620Lys,pathogenic
Q14524:p.Thr1620Met,pathogenic
Q14524:p.Arg1623Leu,pathogenic
Q14524:p.Arg1623Gln,pathogenic
Q14524:p.Arg1626Pro,pathogenic
Q14524:p.Gly1639Ala,benign
Q14524:p.Arg1644Cys,pathogenic
Q14524:p.Arg1644His,pathogenic
Q14524:p.Thr1645Met,pathogenic
Q14524:p.Ala1649Val,pathogenic
Q14524:p.Met1652Arg,pathogenic
Q14524:p.Ile1660Val,pathogenic
Q14524:p.Val1667Ile,pathogenic
Q14524:p.Tyr1671Asp,benign
Q14524:p.Ala1677Ser,benign
Q14524:p.Asn1678Ser,benign
Q14524:p.Ala1680Pro,benign
Q14524:p.Tyr1681His,benign
Q14524:p.Ser1700Asn,benign
Q14524:p.Phe1705Ser,pathogenic
Q14524:p.Ser1710Leu,pathogenic
Q14524:p.Asp1714Gly,pathogenic
Q14524:p.Thr1731Asn,benign
Q14524:p.Gly1740Arg,pathogenic
Q14524:p.Asp1741Asn,benign
Q14524:p.Gly1743Glu,pathogenic
Q14524:p.Gly1743Arg,pathogenic
Q14524:p.Val1763Met,pathogenic
Q14524:p.Met1766Leu,pathogenic
Q14524:p.Ile1768Val,pathogenic
Q14524:p.Val1777Met,pathogenic
Q14524:p.Thr1779Met,pathogenic
Q14524:p.Glu1784Lys,pathogenic
Q14524:p.Ser1787Asn,pathogenic
Q14524:p.Asp1790Gly,pathogenic
Q14524:p.Asp1792Asn,pathogenic
Q14524:p.Tyr1795Cys,pathogenic
Q14524:p.Tyr1795His,pathogenic
Q14524:p.Ile1797Thr,benign
Q14524:p.Ser1812Leu,benign
Q14524:p.Val1813Ala,benign
Q14524:p.Asp1819Asn,pathogenic
Q14524:p.Leu1825Pro,pathogenic
Q14524:p.Arg1826Cys,pathogenic
Q14524:p.Arg1826His,pathogenic
Q14524:p.Ile1833Met,benign
Q14524:p.Asp1839Gly,pathogenic
Q14524:p.Cys1850Ser,pathogenic
Q14524:p.Phe1857Leu,benign
Q14524:p.Ser1904Leu,pathogenic
Q14524:p.Met1906Thr,benign
Q14524:p.Gln1909Arg,pathogenic
Q14524:p.Leu1921Met,benign
Q14524:p.Leu1921Val,benign
Q14524:p.Ala1924Thr,pathogenic
Q14524:p.Gln1931Arg,benign
Q14524:p.Ala1932Thr,benign
Q14524:p.Ala1932Val,benign
Q14524:p.Ser1934Arg,benign
Q14524:p.Gly1935Ser,pathogenic
Q14524:p.Glu1938Asp,benign
Q14524:p.Arg1944Gln,benign
Q14524:p.Ala1949Ser,pathogenic
Q14524:p.Tyr1950Asn,benign
Q14524:p.Val1951Leu,pathogenic
Q14524:p.Val1951Met,pathogenic
Q14524:p.Ser1953Asn,benign
Q14524:p.Glu1954Gly,benign
Q14524:p.Ser1957Cys,benign
Q14524:p.Arg1958Gln,pathogenic
Q14524:p.Arg1958Trp,benign
Q14524:p.Pro1959Arg,benign
Q14524:p.Pro1959Ser,benign
Q14524:p.Pro1959Thr,benign
Q14524:p.Leu1960Phe,benign
Q14524:p.Leu1960Gly,benign
Q14524:p.Leu1960Pro,benign
Q14524:p.Leu1960Ser,benign
Q14524:p.Gly1961Ala,benign
Q14524:p.Pro1962Leu,benign
Q14524:p.Pro1963Leu,benign
Q14524:p.Ile1968Ser,pathogenic
Q14524:p.Ile1968Val,benign
Q14524:p.Asn1987Lys,pathogenic
Q14524:p.Leu1988Ile,benign
Q14524:p.Gln1989Pro,benign
Q14524:p.Val1990Leu,benign
Q14524:p.Arg1991Pro,benign
Q14524:p.Gly1992Ala,benign
Q14524:p.Gly1992Val,benign
Q14524:p.Tyr1995Asp,benign
Q14524:p.His1997Arg,benign
Q14524:p.Leu2001Val,benign
Q14524:p.Phe2004Leu,pathogenic
Q14524:p.Phe2004Ser,benign
Q14524:p.Pro2005Thr,benign
Q14524:p.Pro2006Ala,pathogenic
Q14524:p.Pro2008Leu,benign
Q14524:p.Asp2009Asn,benign
Q14524:p.Arg2010Gly,benign
Q14524:p.Ile2015Thr,benign
P31327:p.Thr2Met,benign
P31327:p.Thr6Ala,benign
P31327:p.Phe8Cys,benign
P31327:p.Lys9Gly,benign
P31327:p.Arg12Lys,benign
P31327:p.Thr13Ala,benign
P31327:p.Leu14Val,benign
P31327:p.Lys15Arg,benign
P31327:p.Thr16Gly,benign
P31327:p.Thr16Ile,benign
P31327:p.Thr16Asn,benign
P31327:p.Thr16Ser,benign
P31327:p.Gly17Ser,benign
P31327:p.Phe18Pro,benign
P31327:p.Phe18Ser,benign
P31327:p.Gly19Ala,benign
P31327:p.Gly19Cys,benign
P31327:p.Phe20Leu,benign
P31327:p.Thr21Ala,benign
P31327:p.Thr21Asn,benign
P31327:p.Thr21Pro,benign
P31327:p.Thr21Ser,benign
P31327:p.Asn22Asp,benign
P31327:p.Asn22Lys,benign
P31327:p.Asn22Ser,benign
P31327:p.Val23Ala,benign
P31327:p.Val23Gly,benign
P31327:p.Thr24Ala,benign
P31327:p.Thr24Ile,benign
P31327:p.Thr24Pro,benign
P31327:p.Ala25Ser,benign
P31327:p.Ala25Thr,benign
P31327:p.His26Lys,benign
P31327:p.His26Pro,benign
P31327:p.His26Gln,benign
P31327:p.His26Arg,benign
P31327:p.Gln27His,benign
P31327:p.Gln27Arg,benign
P31327:p.Gln27Val,benign
P31327:p.Lys28Asn,benign
P31327:p.Lys28Pro,benign
P31327:p.Lys28Gln,benign
P31327:p.Lys30Asp,benign
P31327:p.Lys30Glu,benign
P31327:p.Lys30Gly,benign
P31327:p.Lys30Arg,benign
P31327:p.Lys30Thr,benign
P31327:p.Phe31Ile,benign
P31327:p.Phe31Ser,benign
P31327:p.Phe31Tyr,benign
P31327:p.Ser32Ala,benign
P31327:p.Ser32Gln,benign
P31327:p.Pro34Ala,benign
P31327:p.Ile36Thr,benign
P31327:p.Val41Ile,benign
P31327:p.Ala43Val,pathogenic
P31327:p.Gln44Lys,benign
P31327:p.Gln44Pro,benign
P31327:p.Lys57Gln,benign
P31327:p.Gly58Asp,pathogenic
P31327:p.Ser65Phe,pathogenic
P31327:p.Val71Gly,pathogenic
P31327:p.Gly78Ala,benign
P31327:p.Gly79Glu,pathogenic
P31327:p.Pro81Ser,benign
P31327:p.Ile84Leu,benign
P31327:p.Pro87Ser,pathogenic
P31327:p.Tyr89Asp,pathogenic
P31327:p.Ala97Val,benign
P31327:p.Ile101Val,benign
P31327:p.Ala106Val,benign
P31327:p.Thr110Ala,benign
P31327:p.Thr110Leu,benign
P31327:p.Leu112Arg,benign
P31327:p.Leu112Val,benign
P31327:p.Glu114Gly,benign
P31327:p.Glu114Lys,benign
P31327:p.Leu115Phe,benign
P31327:p.Leu115Met,benign
P31327:p.Ser118Lys,benign
P31327:p.Ser118Asn,benign
P31327:p.Tyr120Cys,benign
P31327:p.Leu121Met,benign
P31327:p.Ser123Phe,pathogenic
P31327:p.Asn124Asp,benign
P31327:p.Asn124Val,benign
P31327:p.Val128Ile,benign
P31327:p.Ser129Ala,benign
P31327:p.Asp135Asn,benign
P31327:p.Asp135Ser,benign
P31327:p.Lys138Asp,benign
P31327:p.Lys138His,benign
P31327:p.Lys138Asn,benign
P31327:p.Lys138Pro,benign
P31327:p.Asp139Glu,benign
P31327:p.Asn141His,benign
P31327:p.Asn141Ser,benign
P31327:p.Thr146Ala,benign
P31327:p.Thr146Asn,benign
P31327:p.Ser148Thr,benign
P31327:p.Gln154His,benign
P31327:p.Gln154Arg,benign
P31327:p.Lys157Arg,benign
P31327:p.Val158Ile,benign
P31327:p.Ile161Val,benign
P31327:p.Tyr162Cys,benign
P31327:p.Asp165Gly,pathogenic
P31327:p.Thr170Ser,benign
P31327:p.Met179Val,benign
P31327:p.Glu186Asp,benign
P31327:p.Pro189Ser,benign
P31327:p.Asp191Asn,benign
P31327:p.Val193Leu,benign
P31327:p.Val193Met,benign
P31327:p.Lys197Met,benign
P31327:p.Gln198Glu,benign
P31327:p.Glu203Asp,benign
P31327:p.Glu203Gln,benign
P31327:p.Val204Ile,benign
P31327:p.Asp208Ala,benign
P31327:p.Asp208Glu,benign
P31327:p.Asp208Asn,benign
P31327:p.Val211Ile,benign
P31327:p.Tyr212Phe,benign
P31327:p.Tyr212Asn,pathogenic
P31327:p.Gly213Ser,benign
P31327:p.Thr218Met,benign
P31327:p.Asp224Val,pathogenic
P31327:p.Arg233Cys,pathogenic
P31327:p.His243Pro,pathogenic
P31327:p.Leu244Val,benign
P31327:p.His249Tyr,benign
P31327:p.Lys253Asn,benign
P31327:p.Lys253Gln,benign
P31327:p.Glu255Asp,benign
P31327:p.Gly258Glu,pathogenic
P31327:p.Ile259Leu,benign
P31327:p.Leu260Val,benign
P31327:p.Gly263Glu,pathogenic
P31327:p.Ala269Thr,benign
P31327:p.Glu272Gln,benign
P31327:p.Pro273Thr,benign
P31327:p.Arg279Lys,benign
P31327:p.Lys280Asn,pathogenic
P31327:p.Ile281Val,benign
P31327:p.Leu282Phe,benign
P31327:p.Leu282Met,benign
P31327:p.Glu283Asp,benign
P31327:p.Glu283Gly,benign
P31327:p.Ser284Asp,benign
P31327:p.Arg286His,benign
P31327:p.Lys287Asn,benign
P31327:p.Lys287Gln,benign
P31327:p.Glu288Gln,benign
P31327:p.Leu290Val,benign
P31327:p.Phe291Leu,benign
P31327:p.Leu298Ile,benign
P31327:p.Ile299Val,benign
P31327:p.Thr300Ile,benign
P31327:p.Gly301Glu,pathogenic
P31327:p.Ala304Thr,benign
P31327:p.Ala304Val,pathogenic
P31327:p.Lys307Gln,benign
P31327:p.Thr308Ala,benign
P31327:p.Thr308Pro,benign
P31327:p.Thr308Ser,benign
P31327:p.Thr308Val,benign
P31327:p.Ser312Pro,benign
P31327:p.Ala314Pro,benign
P31327:p.Gly317Glu,pathogenic
P31327:p.Ile325Leu,benign
P31327:p.Ile325Val,benign
P31327:p.Lys328Arg,benign
P31327:p.His337Arg,pathogenic
P31327:p.Asp342Glu,benign
P31327:p.Asn343Gly,benign
P31327:p.Asn343Ser,benign
P31327:p.Thr344Ala,benign
P31327:p.Val354Leu,benign
P31327:p.Asp358His,pathogenic
P31327:p.Glu367Asp,benign
P31327:p.Ala373Gly,benign
P31327:p.Thr381Gly,benign
P31327:p.Thr381Asn,benign
P31327:p.Thr381Ser,benign
P31327:p.Pro382Leu,pathogenic
P31327:p.Ile385Thr,benign
P31327:p.Tyr389Cys,pathogenic
P31327:p.Leu390Arg,pathogenic
P31327:p.Phe395Val,benign
P31327:p.Ile398Met,benign
P31327:p.Lys400Arg,benign
P31327:p.Lys400Thr,benign
P31327:p.Gly401Glu,benign
P31327:p.Gly401Arg,pathogenic
P31327:p.Ala403Gly,benign
P31327:p.Thr404Asn,benign
P31327:p.Thr405Ala,benign
P31327:p.Ile406Val,benign
P31327:p.Ala414Gly,benign
P31327:p.Val420Ile,benign
P31327:p.Gly431Arg,pathogenic
P31327:p.Gly432Val,pathogenic
P31327:p.Ala438Pro,pathogenic
P31327:p.Ala438Thr,pathogenic
P31327:p.Lys450Glu,pathogenic
P31327:p.Val457Gly,pathogenic
P31327:p.Thr471Asn,pathogenic
P31327:p.Thr481Ala,benign
P31327:p.Gln490His,benign
P31327:p.Ala498Pro,pathogenic
P31327:p.Gln500Arg,benign
P31327:p.Lys522Arg,benign
P31327:p.Val525Ile,benign
P31327:p.Val531Glu,pathogenic
P31327:p.Val531Gly,pathogenic
P31327:p.Ala543Phe,benign
P31327:p.Thr544Met,pathogenic
P31327:p.Asn558Asp,benign
P31327:p.Asn558Ser,benign
P31327:p.Pro563Leu,benign
P31327:p.Ser569Thr,benign
P31327:p.Ile570Met,benign
P31327:p.Ile570Thr,benign
P31327:p.Ile570Val,benign
P31327:p.Glu571Asp,benign
P31327:p.Asp572Glu,benign
P31327:p.Leu574Met,benign
P31327:p.Thr579Ala,benign
P31327:p.Thr579Lys,benign
P31327:p.Thr579Asn,benign
P31327:p.Arg587Cys,pathogenic
P31327:p.Arg587His,pathogenic
P31327:p.Arg587Leu,pathogenic
P31327:p.Ala589Thr,pathogenic
P31327:p.Ala589Val,benign
P31327:p.Gly593Arg,pathogenic
P31327:p.Ser597Leu,pathogenic
P31327:p.Ile599Leu,benign
P31327:p.Asn602Thr,benign
P31327:p.Arg603Lys,benign
P31327:p.Thr605Ile,benign
P31327:p.Thr605Val,benign
P31327:p.Met607Ile,benign
P31327:p.Met607Leu,benign
P31327:p.Met607Val,benign
P31327:p.Ser610Gly,benign
P31327:p.Met616Ile,benign
P31327:p.Val622Met,pathogenic
P31327:p.Lys624Arg,benign
P31327:p.Gly628Asp,pathogenic
P31327:p.Ile632Arg,pathogenic
P31327:p.Tyr634Phe,benign
P31327:p.Arg638Pro,pathogenic
P31327:p.Ala640Ser,pathogenic
P31327:p.Asp641Asn,benign
P31327:p.Cys648Tyr,pathogenic
P31327:p.Asn649Ser,benign
P31327:p.Glu651Lys,pathogenic
P31327:p.Asp654Val,pathogenic
P31327:p.Asp662Val,benign
P31327:p.Ser673Ala,benign
P31327:p.Asn674Ile,pathogenic
P31327:p.Asn674Lys,pathogenic
P31327:p.Ala675Glu,benign
P31327:p.Gln678Pro,pathogenic
P31327:p.Met679Leu,benign
P31327:p.Arg682His,benign
P31327:p.Arg682Gln,benign
P31327:p.Thr683Ser,benign
P31327:p.Thr683Val,benign
P31327:p.Ile685Val,benign
P31327:p.Arg689Cys,benign
P31327:p.Asn698Ser,pathogenic
P31327:p.Asn716Lys,pathogenic
P31327:p.Arg718Lys,pathogenic
P31327:p.Arg721Gln,pathogenic
P31327:p.Ala724Pro,pathogenic
P31327:p.Ala726Thr,pathogenic
P31327:p.Asp767Val,pathogenic
P31327:p.Pro774Leu,pathogenic
P31327:p.Arg780His,pathogenic
P31327:p.Met792Ile,pathogenic
P31327:p.Arg803Cys,pathogenic
P31327:p.Arg803Gly,pathogenic
P31327:p.Arg803Ser,pathogenic
P31327:p.Phe805Leu,pathogenic
P31327:p.Phe805Ser,pathogenic
P31327:p.Ser808Cys,benign
P31327:p.Ser808Thr,benign
P31327:p.Phe809Leu,benign
P31327:p.Gln810Arg,pathogenic
P31327:p.Arg814Trp,pathogenic
P31327:p.Cys816Arg,pathogenic
P31327:p.Ile820Val,benign
P31327:p.Glu821Ala,benign
P31327:p.Glu821Asp,benign
P31327:p.Thr824Ser,benign
P31327:p.Pro825Ala,benign
P31327:p.Pro825Ser,benign
P31327:p.Met829Val,benign
P31327:p.Glu832Asp,benign
P31327:p.Ser835Ala,benign
P31327:p.Ser835Val,benign
P31327:p.Asn836Asp,benign
P31327:p.Leu837Ile,benign
P31327:p.Leu837Met,benign
P31327:p.Leu837Thr,benign
P31327:p.Leu837Val,benign
P31327:p.Leu839Val,benign
P31327:p.Arg840Lys,benign
P31327:p.Lys841Arg,benign
P31327:p.Lys841Thr,benign
P31327:p.Leu843Ser,pathogenic
P31327:p.Ser844Ala,benign
P31327:p.Ser844Leu,benign
P31327:p.Glu845Asp,benign
P31327:p.Pro846Ala,benign
P31327:p.Ser847Thr,benign
P31327:p.Ser848Asn,benign
P31327:p.Thr849Ile,benign
P31327:p.Arg850Cys,pathogenic
P31327:p.Arg850His,pathogenic
P31327:p.Ile851Met,benign
P31327:p.Ile851Val,benign
P31327:p.Ile858Leu,benign
P31327:p.Ile858Met,benign
P31327:p.Asp859Glu,benign
P31327:p.Asp859Gly,benign
P31327:p.Asp860Glu,benign
P31327:p.Asp860Asn,benign
P31327:p.Asp860Ser,benign
P31327:p.Asn861Lys,benign
P31327:p.Met862Val,benign
P31327:p.Ser863Pro,benign
P31327:p.Asp865Glu,benign
P31327:p.Glu866Gly,benign
P31327:p.Glu868Gly,benign
P31327:p.Glu868Met,benign
P31327:p.Glu868Val,benign
P31327:p.Lys869Gln,benign
P31327:p.Lys869Arg,benign
P31327:p.Tyr872Ala,benign
P31327:p.Tyr872Ser,benign
P31327:p.Lys875Glu,pathogenic
P31327:p.Lys875Arg,benign
P31327:p.Tyr879Phe,benign
P31327:p.Arg882His,benign
P31327:p.Asp883His,benign
P31327:p.Asn886Lys,benign
P31327:p.Asn886Ser,benign
P31327:p.Asn886Thr,benign
P31327:p.Glu888Asp,benign
P31327:p.Glu888Gln,benign
P31327:p.Lys889Asn,benign
P31327:p.Lys889Gln,benign
P31327:p.Gly893Glu,benign
P31327:p.Leu894Phe,benign
P31327:p.Leu894Ser,benign
P31327:p.Asn895Lys,benign
P31327:p.Asn895Ser,benign
P31327:p.Ser896Arg,benign
P31327:p.Glu897Asp,benign
P31327:p.Ser898His,benign
P31327:p.Met899Ile,benign
P31327:p.Met899Val,benign
P31327:p.Thr900Ala,benign
P31327:p.Glu902Asp,benign
P31327:p.Thr903Ala,benign
P31327:p.Thr903Ile,benign
P31327:p.Leu904Met,benign
P31327:p.Lys905Arg,benign
P31327:p.Arg906Lys,benign
P31327:p.Arg906Gln,benign
P31327:p.Ala907Ser,benign
P31327:p.Glu909Gln,benign
P31327:p.Gly911Glu,pathogenic
P31327:p.Gly911Val,pathogenic
P31327:p.Ser913Leu,pathogenic
P31327:p.Asp914Gly,pathogenic
P31327:p.Asp914His,pathogenic
P31327:p.Gln916His,benign
P31327:p.Ser918Ala,benign
P31327:p.Ser918Pro,pathogenic
P31327:p.Leu923Ile,benign
P31327:p.Thr928Ala,benign
P31327:p.Arg932Thr,pathogenic
P31327:p.His938Arg,benign
P31327:p.His938Tyr,benign
P31327:p.Ala949Thr,pathogenic
P31327:p.Val954Ile,benign
P31327:p.Leu958Pro,pathogenic
P31327:p.Tyr959Cys,pathogenic
P31327:p.Val960Ile,benign
P31327:p.Tyr962Cys,pathogenic
P31327:p.Asn963His,benign
P31327:p.Gln965Arg,benign
P31327:p.Val969Ile,benign
P31327:p.Asn970Asp,benign
P31327:p.Asn970Lys,benign
P31327:p.Asn970Gln,benign
P31327:p.Asn970Ser,benign
P31327:p.Asp973Glu,benign
P31327:p.Met976Ile,benign
P31327:p.Met976Leu,benign
P31327:p.Val978Glu,pathogenic
P31327:p.Gly982Asp,pathogenic
P31327:p.Gly982Ser,pathogenic
P31327:p.Gly982Val,pathogenic
P31327:p.Tyr984His,pathogenic
P31327:p.Ile986Thr,pathogenic
P31327:p.Gly987Cys,pathogenic
P31327:p.Phe992Ser,pathogenic
P31327:p.Ser998Phe,pathogenic
P31327:p.Thr1002Ala,benign
P31327:p.Asn1016Ser,pathogenic
P31327:p.Pro1017Leu,pathogenic
P31327:p.Thr1022Ile,pathogenic
P31327:p.Lys1029Arg,benign
P31327:p.Glu1034Gly,pathogenic
P31327:p.His1045Arg,pathogenic
P31327:p.Gly1050Ala,benign
P31327:p.Gly1050Asn,benign
P31327:p.Gly1050Ser,benign
P31327:p.Ile1054Arg,pathogenic
P31327:p.Gln1059Arg,pathogenic
P31327:p.Ala1065Glu,pathogenic
P31327:p.Arg1089Cys,pathogenic
P31327:p.Arg1089Leu,pathogenic
P31327:p.Ile1091Met,benign
P31327:p.Lys1100Asn,benign
P31327:p.Val1101Ile,benign
P31327:p.Ala1102Ser,benign
P31327:p.Gln1103Arg,pathogenic
P31327:p.Asn1113Thr,benign
P31327:p.Lys1120Asn,benign
P31327:p.Lys1120Ser,benign
P31327:p.Ser1121Ala,benign
P31327:p.Asp1123Gly,benign
P31327:p.Val1141Gly,pathogenic
P31327:p.Ser1144Thr,benign
P31327:p.Glu1145Asp,benign
P31327:p.Lys1150Arg,benign
P31327:p.Ala1155Glu,pathogenic
P31327:p.Ala1155Val,pathogenic
P31327:p.Glu1161Ser,benign
P31327:p.His1162Thr,benign
P31327:p.Pro1163Gln,benign
P31327:p.Val1170Ile,benign
P31327:p.Lys1183Arg,benign
P31327:p.Asp1184Glu,benign
P31327:p.Ile1192Met,benign
P31327:p.Ile1192Val,benign
P31327:p.His1195Pro,pathogenic
P31327:p.Ser1203Leu,pathogenic
P31327:p.Ser1203Pro,pathogenic
P31327:p.Asp1205Asn,pathogenic
P31327:p.Met1209Ile,benign
P31327:p.Thr1214Ser,benign
P31327:p.Ile1215Val,pathogenic
P31327:p.Ile1220Val,benign
P31327:p.Ala1226Val,benign
P31327:p.Arg1228Gln,pathogenic
P31327:p.Arg1228Trp,benign
P31327:p.Lys1232Gln,benign
P31327:p.Ala1233Ser,benign
P31327:p.Asn1241Lys,pathogenic
P31327:p.Gly1248Arg,benign
P31327:p.Asp1250Glu,benign
P31327:p.Glu1255Asp,pathogenic
P31327:p.Arg1262Pro,pathogenic
P31327:p.Arg1262Gln,pathogenic
P31327:p.Val1273Ile,benign
P31327:p.Asp1274His,pathogenic
P31327:p.Ile1284Thr,benign
P31327:p.Gly1285Glu,benign
P31327:p.Glu1286Gln,benign
P31327:p.Asn1287His,benign
P31327:p.Asn1287Ser,benign
P31327:p.Asn1287Thr,benign
P31327:p.Val1288Ile,benign
P31327:p.Val1288Leu,benign
P31327:p.Lys1291Gln,benign
P31327:p.Lys1291Arg,benign
P31327:p.His1292Leu,benign
P31327:p.His1292Pro,benign
P31327:p.His1292Arg,benign
P31327:p.His1292Ser,benign
P31327:p.His1292Tyr,benign
P31327:p.Asp1297Glu,benign
P31327:p.His1298Lys,benign
P31327:p.His1298Asn,benign
P31327:p.His1298Gln,benign
P31327:p.His1298Tyr,benign
P31327:p.Ala1303Pro,benign
P31327:p.Ala1303Ser,benign
P31327:p.Cys1327Arg,pathogenic
P31327:p.Ser1331Pro,pathogenic
P31327:p.Gly1333Glu,pathogenic
P31327:p.Ile1357Leu,benign
P31327:p.Ile1357Met,benign
P31327:p.Gln1359Lys,benign
P31327:p.Arg1371Leu,pathogenic
P31327:p.Pro1372Ala,benign
P31327:p.Arg1373Lys,benign
P31327:p.Arg1373Gln,benign
P31327:p.Ala1378Thr,pathogenic
P31327:p.Thr1391Met,pathogenic
P31327:p.Leu1398Val,pathogenic
P31327:p.Thr1406Ile,benign
P31327:p.Pro1411Leu,pathogenic
P31327:p.Glu1414Asp,benign
P31327:p.Gln1416Lys,benign
P31327:p.Gln1416Arg,benign
P31327:p.Ser1419Gly,benign
P31327:p.Ser1422Pro,benign
P31327:p.Ile1423Val,benign
P31327:p.Ile1427Met,benign
P31327:p.Arg1428Lys,benign
P31327:p.Ser1431Ile,benign
P31327:p.Pro1439Leu,pathogenic
P31327:p.Thr1443Ala,pathogenic
P31327:p.Arg1453Gln,pathogenic
P31327:p.Arg1453Trp,pathogenic
P31327:p.Ile1461Val,benign
P31327:p.Pro1462Ala,benign
P31327:p.Pro1462Arg,pathogenic
P31327:p.Val1477Met,benign
P31327:p.Gln1478Lys,benign
P31327:p.Ser1480Ala,benign
P31327:p.Arg1481His,benign
P31327:p.Lys1482Asn,benign
P31327:p.Lys1482Thr,benign
P31327:p.Ser1485Ala,benign
P31327:p.Tyr1491His,pathogenic
P31327:p.Tyr1494Phe,benign
P31327:p.Tyr1494His,benign
P31327:p.Ser1495Ala,benign
P31327:p.Ser1495Gly,benign
P31327:p.Ser1495Arg,benign
P31327:p.Ala1499Glu,benign
P31327:p.Ala1499Lys,benign
P31327:p.Ala1499Met,benign
P31327:p.Ala1500Leu,benign
P31327:p.Ala1500Thr,benign
P31327:p.Ala1500Val,benign
O75445:p.Val5Met,benign
O75445:p.Leu6Ser,benign
O75445:p.Leu8Met,benign
O75445:p.Leu8Val,benign
O75445:p.Glu18Asp,benign
O75445:p.Ala23Val,benign
O75445:p.Ser27Leu,benign
O75445:p.Thr31Ala,benign
O75445:p.Glu32Asp,benign
O75445:p.Glu41Lys,benign
O75445:p.Gly44Arg,pathogenic
O75445:p.Lys48Asn,benign
O75445:p.Thr80Ser,benign
O75445:p.Ser107Gly,benign
O75445:p.Ala120Ser,benign
O75445:p.Ala125Thr,benign
O75445:p.Ile128Val,benign
O75445:p.Ser134Asn,benign
O75445:p.Pro140Ala,benign
O75445:p.Lys143Arg,benign
O75445:p.Ala146Pro,benign
O75445:p.Cys163Tyr,pathogenic
O75445:p.Lys167Arg,benign
O75445:p.Thr168Ala,benign
O75445:p.Ser180Pro,pathogenic
O75445:p.Met185Val,benign
O75445:p.Gly204Glu,benign
O75445:p.Val218Glu,pathogenic
O75445:p.Asn228Asp,benign
O75445:p.Asn238Asp,benign
O75445:p.Leu280Phe,pathogenic
O75445:p.Glu284Lys,pathogenic
O75445:p.Arg303Cys,pathogenic
O75445:p.Arg303Ser,pathogenic
O75445:p.Cys319Tyr,pathogenic
O75445:p.Ile320Val,benign
O75445:p.Asn330Asp,benign
O75445:p.Arg334Gln,pathogenic
O75445:p.Arg334Trp,pathogenic
O75445:p.Pro337Ser,benign
O75445:p.Asn346His,pathogenic
O75445:p.Thr352Ile,pathogenic
O75445:p.Asn357Thr,pathogenic
O75445:p.Ile362Val,benign
O75445:p.Val382Met,pathogenic
O75445:p.Leu407Ser,benign
O75445:p.Asp408Gly,benign
O75445:p.Cys419Phe,pathogenic
O75445:p.Asp429Gly,benign
O75445:p.Asn469Asp,benign
O75445:p.Leu502Phe,benign
O75445:p.Arg517Ser,benign
O75445:p.Gln519Met,benign
O75445:p.His523Tyr,benign
O75445:p.Ala524Lys,benign
O75445:p.Asp525Asn,benign
O75445:p.Asn526Val,benign
O75445:p.Asp528Gly,benign
O75445:p.Thr529Leu,benign
O75445:p.Thr530Asn,benign
O75445:p.Ser531Phe,benign
O75445:p.Gln532Tyr,benign
O75445:p.Arg535Ile,benign
O75445:p.Cys536Phe,benign
O75445:p.Cys536Arg,pathogenic
O75445:p.Leu537Ile,benign
O75445:p.Ser539Leu,benign
O75445:p.Gln540Pro,benign
O75445:p.Glu541Asn,benign
O75445:p.Ser542Leu,benign
O75445:p.Phe543Tyr,benign
O75445:p.Gly546Ser,benign
O75445:p.Leu547Pro,benign
O75445:p.His548Gln,benign
O75445:p.Leu555Val,pathogenic
O75445:p.Tyr568His,benign
O75445:p.Pro574Arg,benign
O75445:p.His585Tyr,benign
O75445:p.Ile588Val,benign
O75445:p.Pro592Leu,benign
O75445:p.Phe595Ser,benign
O75445:p.Asp606Asn,benign
O75445:p.His610Pro,pathogenic
O75445:p.Ala630Ile,benign
O75445:p.Ser633Leu,benign
O75445:p.Asp644Glu,benign
O75445:p.Thr645Lys,benign
O75445:p.Thr648Ala,benign
O75445:p.Arg649Gly,benign
O75445:p.Gln661Arg,benign
O75445:p.Gln684Arg,benign
O75445:p.Cys691Tyr,pathogenic
O75445:p.Thr698Ile,benign
O75445:p.His728Arg,benign
O75445:p.Phe739Ile,benign
O75445:p.Asp741Asn,benign
O75445:p.Val742Asp,benign
O75445:p.Cys759Phe,pathogenic
O75445:p.Pro761Arg,pathogenic
O75445:p.His762Leu,benign
O75445:p.Asn791Ser,benign
O75445:p.Glu822Gly,benign
O75445:p.Gly832Arg,benign
O75445:p.Asn833His,benign
O75445:p.Phe834Val,benign
O75445:p.Arg837Trp,benign
O75445:p.Asn840Thr,benign
O75445:p.Thr852Ala,benign
O75445:p.Ile855Thr,benign
O75445:p.Asn862Asp,benign
O75445:p.His896Gly,benign
O75445:p.His896Arg,benign
O75445:p.Pro909Arg,benign
O75445:p.Cys934Trp,pathogenic
O75445:p.Asn944Ser,benign
O75445:p.Thr946Asn,benign
O75445:p.Thr956Ala,benign
O75445:p.Ala958Ser,benign
O75445:p.Asn960His,benign
O75445:p.His961Asp,benign
O75445:p.Ile962Thr,benign
O75445:p.Ala975Asp,benign
O75445:p.Lys986Arg,benign
O75445:p.His988Arg,benign
O75445:p.Asp993Asn,benign
O75445:p.Gln1063Lys,benign
O75445:p.Asp1092Asn,benign
O75445:p.Thr1098Arg,benign
O75445:p.Ile1107Val,benign
O75445:p.Tyr1109His,benign
O75445:p.Thr1128Ala,benign
O75445:p.Val1130Ala,benign
O75445:p.Ala1138Thr,benign
O75445:p.Tyr1141Phe,benign
O75445:p.Lys1142Arg,benign
O75445:p.Glu1149Asp,benign
O75445:p.Ile1160Val,benign
O75445:p.Val1165Ala,benign
O75445:p.Ala1187Val,benign
O75445:p.Glu1202Ala,benign
O75445:p.Pro1212Leu,pathogenic
O75445:p.Asp1217Asn,benign
O75445:p.Asp1217Tyr,benign
O75445:p.Val1220Ile,benign
O75445:p.Thr1235Ala,benign
O75445:p.Met1251Val,benign
O75445:p.Ala1267Glu,benign
O75445:p.Ala1267Met,benign
O75445:p.Ala1267Val,benign
O75445:p.Thr1289Ala,benign
O75445:p.Val1296Ile,benign
O75445:p.His1306Gln,benign
O75445:p.Val1309Ala,benign
O75445:p.Thr1324Ala,benign
O75445:p.Phe1371Val,benign
O75445:p.Leu1402Ile,benign
O75445:p.Leu1402Val,benign
O75445:p.Pro1407Leu,benign
O75445:p.Met1413Thr,benign
O75445:p.Met1413Val,benign
O75445:p.Ala1414Val,benign
O75445:p.His1420Tyr,benign
O75445:p.Phe1442Ser,pathogenic
O75445:p.Ile1444Val,benign
O75445:p.Leu1446Val,benign
O75445:p.Ala1466Lys,benign
O75445:p.Pro1467Lys,benign
O75445:p.Gln1469Glu,benign
O75445:p.Arg1471Met,benign
O75445:p.Pro1472Ile,benign
O75445:p.Pro1472Arg,benign
O75445:p.Pro1473Ala,benign
O75445:p.Leu1474Val,benign
O75445:p.Val1475Ile,benign
O75445:p.Lys1476Val,benign
O75445:p.Gly1477Arg,benign
O75445:p.Ile1478Glu,benign
O75445:p.Asn1479Ala,benign
O75445:p.Thr1481Val,benign
O75445:p.Ile1483Met,benign
O75445:p.Arg1486Ile,benign
O75445:p.Arg1486Lys,benign
O75445:p.Trp1487Phe,benign
O75445:p.Phe1488Leu,benign
O75445:p.Pro1490Cys,benign
O75445:p.Glu1491Pro,benign
O75445:p.Glu1492Gly,benign
O75445:p.Leu1493Val,benign
O75445:p.Gly1495Met,benign
O75445:p.Pro1496Gln,benign
O75445:p.Ser1497Pro,benign
O75445:p.Pro1498Glu,benign
O75445:p.Ile1499Met,benign
O75445:p.Tyr1500Phe,benign
O75445:p.Gln1501Asn,benign
O75445:p.Leu1502Ile,benign
O75445:p.Glu1503Lys,benign
O75445:p.Glu1506Lys,benign
O75445:p.Ala1511Ser,benign
O75445:p.Leu1512Pro,benign
O75445:p.Leu1512Arg,benign
O75445:p.Met1513Val,benign
O75445:p.Thr1514Ser,benign
O75445:p.Thr1515Ala,benign
O75445:p.Thr1515Met,pathogenic
O75445:p.Met1516Ile,benign
O75445:p.Met1517Thr,benign
O75445:p.Gly1519Ile,benign
O75445:p.Ile1520Phe,benign
O75445:p.Phe1522Met,benign
O75445:p.Ile1523Leu,benign
O75445:p.Ile1523Thr,benign
O75445:p.Asn1525His,benign
O75445:p.Lys1529Asn,benign
O75445:p.Phe1530Cys,benign
O75445:p.Pro1531Thr,benign
O75445:p.Thr1534Ala,benign
O75445:p.His1535Phe,benign
O75445:p.Pro1536Ser,benign
O75445:p.Asn1538His,benign
O75445:p.Thr1539Ile,benign
O75445:p.Asp1540Ser,benign
O75445:p.Phe1541Ile,benign
O75445:p.Thr1542Lys,benign
O75445:p.Gly1543Arg,benign
O75445:p.Asp1642Glu,benign
O75445:p.Arg1653Gln,benign
O75445:p.Pro1662Ser,benign
O75445:p.Ser1695Asn,benign
O75445:p.Ser1696Cys,benign
O75445:p.Gly1734Arg,pathogenic
O75445:p.Lys1759Thr,benign
O75445:p.Thr1775Ser,benign
O75445:p.Arg1777Trp,pathogenic
O75445:p.Ser1794Ala,benign
O75445:p.Ala1814Thr,benign
O75445:p.Val1816Met,benign
O75445:p.Ala1823Thr,benign
O75445:p.Asp1828Ala,benign
O75445:p.Val1833Glu,pathogenic
O75445:p.Gly1840Val,pathogenic
O75445:p.Ile1842Val,benign
O75445:p.Pro1843Leu,pathogenic
O75445:p.Gln1851Lys,benign
O75445:p.Phe1859Cys,pathogenic
O75445:p.Gly1861Ser,pathogenic
O75445:p.Met1863Val,benign
O75445:p.Gln1910His,benign
O75445:p.Gly1919Ser,benign
O75445:p.Ile1932Arg,benign
O75445:p.Arg1981Thr,benign
O75445:p.Lys1990Glu,benign
O75445:p.Ser1996Asn,benign
O75445:p.Arg1998His,benign
O75445:p.Arg2001His,benign
O75445:p.Arg2001Tyr,benign
O75445:p.Asn2014Ser,benign
O75445:p.Asn2014Thr,benign
O75445:p.Thr2041Ala,benign
O75445:p.Glu2042Gly,benign
O75445:p.Val2063Ala,benign
O75445:p.Leu2067Phe,benign
O75445:p.Ser2069Lys,benign
O75445:p.Ser2069Asn,benign
O75445:p.Cys2089Arg,benign
O75445:p.Cys2089Ser,benign
O75445:p.Ser2101Asn,benign
O75445:p.Ile2106Thr,benign
O75445:p.Val2150Ile,benign
O75445:p.Ile2159Val,benign
O75445:p.His2160Tyr,benign
O75445:p.Ile2161Val,benign
O75445:p.Val2177Ile,benign
O75445:p.Met2180Ile,benign
O75445:p.Met2180Val,benign
O75445:p.His2183Asp,benign
O75445:p.His2185Asp,benign
O75445:p.Val2208Leu,benign
O75445:p.Leu2209Val,benign
O75445:p.Lys2248Glu,benign
O75445:p.Ala2249Asp,pathogenic
O75445:p.Ala2249Val,benign
O75445:p.His2250Leu,benign
O75445:p.Ser2253Leu,benign
O75445:p.Ile2271Val,benign
O75445:p.Thr2272Met,benign
O75445:p.Ile2281Val,benign
O75445:p.Tyr2291Cys,benign
O75445:p.Arg2292His,benign
O75445:p.Ala2311Thr,benign
O75445:p.Pro2328Ala,benign
O75445:p.Phe2353Tyr,benign
O75445:p.Arg2354His,pathogenic
O75445:p.Leu2358Arg,benign
O75445:p.His2361Tyr,benign
O75445:p.Leu2364Val,benign
O75445:p.Glu2392Asp,benign
O75445:p.Leu2395Val,benign
O75445:p.Ile2399Met,benign
O75445:p.Asp2400Asn,benign
O75445:p.Val2410Ile,benign
O75445:p.Ile2426Val,benign
O75445:p.Arg2460His,pathogenic
O75445:p.Ser2466Phe,benign
O75445:p.Asp2477Asn,benign
O75445:p.His2480Arg,benign
O75445:p.Gly2481Glu,benign
O75445:p.Pro2525Leu,benign
O75445:p.Gln2554Lys,benign
O75445:p.Ile2568Val,benign
O75445:p.Arg2573Pro,benign
O75445:p.Met2588Thr,benign
O75445:p.Ser2609Tyr,benign
O75445:p.Ser2629Asn,benign
O75445:p.Thr2638Ile,benign
O75445:p.Ala2689Ser,benign
O75445:p.Glu2697Gln,benign
O75445:p.Val2700Ile,benign
O75445:p.Val2727Leu,benign
O75445:p.Glu2736Gly,benign
O75445:p.Asp2738Asn,pathogenic
O75445:p.Val2740Ala,benign
O75445:p.Trp2744Cys,pathogenic
O75445:p.Gly2752Arg,pathogenic
O75445:p.Ile2754Leu,benign
O75445:p.His2760Arg,benign
O75445:p.Leu2768Ile,benign
O75445:p.Ser2773Phe,benign
O75445:p.Ala2774Thr,benign
O75445:p.Ala2795Ser,pathogenic
O75445:p.Leu2886Phe,benign
O75445:p.Pro2912Leu,benign
O75445:p.Arg2914Gln,benign
O75445:p.Leu2924Phe,benign
O75445:p.Asn2930Ser,benign
O75445:p.Ala2933Val,benign
O75445:p.Arg2944Gly,benign
O75445:p.Ala2946Gly,benign
O75445:p.Val2950Ile,benign
O75445:p.Tyr2959Phe,benign
O75445:p.Phe2963Val,benign
O75445:p.Val2983Ile,benign
O75445:p.Ser3005Ile,benign
O75445:p.Thr3051Ile,benign
O75445:p.Val3068Met,benign
O75445:p.Ile3082Val,benign
O75445:p.Asp3112Glu,benign
O75445:p.Val3131Met,benign
O75445:p.Ser3132Pro,benign
O75445:p.Arg3134Gln,benign
O75445:p.Ala3154Pro,benign
O75445:p.Ala3154Thr,benign
O75445:p.Leu3159Val,benign
O75445:p.Gln3163His,benign
O75445:p.Asp3165Gly,benign
O75445:p.Gln3174Pro,benign
O75445:p.Glu3177Gln,benign
O75445:p.Ser3178Tyr,benign
O75445:p.Ser3187Pro,benign
O75445:p.Lys3190Arg,benign
O75445:p.Asn3199Lys,benign
O75445:p.Pro3200Ala,benign
O75445:p.Arg3205Leu,benign
O75445:p.Gln3235Arg,benign
O75445:p.Cys3251Arg,pathogenic
O75445:p.Cys3267Arg,pathogenic
O75445:p.Cys3282Arg,pathogenic
O75445:p.Lys3293Gln,benign
O75445:p.Arg3297Glu,benign
O75445:p.Arg3297Gly,benign
O75445:p.Val3314Ala,benign
O75445:p.Asn3316Ser,benign
O75445:p.Ile3348Val,benign
O75445:p.Glu3398Asp,benign
O75445:p.Ile3401Thr,benign
O75445:p.Glu3411Ala,benign
O75445:p.Arg3415Lys,benign
O75445:p.Ser3422Arg,benign
O75445:p.His3423Gln,benign
O75445:p.His3432Arg,benign
O75445:p.Ile3440Val,benign
O75445:p.Val3456Ala,benign
O75445:p.Asp3463Val,benign
O75445:p.Met3470Val,benign
O75445:p.Thr3471Ile,benign
O75445:p.Lys3488Gln,benign
O75445:p.Pro3504Thr,pathogenic
O75445:p.Thr3506Met,benign
O75445:p.Asp3515Gly,pathogenic
O75445:p.Leu3519Val,benign
O75445:p.Trp3521Arg,pathogenic
O75445:p.Ile3531Val,benign
O75445:p.Arg3545Pro,benign
O75445:p.Gly3546Arg,pathogenic
O75445:p.Lys3554Arg,benign
O75445:p.Thr3571Met,pathogenic
O75445:p.Ser3597Arg,benign
O75445:p.Leu3601Gln,benign
O75445:p.Val3604Glu,benign
O75445:p.Val3612Ala,benign
O75445:p.Ser3616Pro,benign
O75445:p.Arg3626Ser,benign
O75445:p.Val3628Ala,benign
O75445:p.Thr3659Met,benign
O75445:p.Ser3669Arg,pathogenic
O75445:p.Glu3670Lys,benign
O75445:p.Val3712Ile,benign
O75445:p.Asn3733Lys,benign
O75445:p.Tyr3747Cys,pathogenic
O75445:p.Ala3759Thr,benign
O75445:p.Val3765Phe,benign
O75445:p.Met3769Leu,benign
O75445:p.Tyr3776His,benign
O75445:p.Ile3789Val,benign
O75445:p.Ile3794Thr,benign
O75445:p.Gly3797Glu,benign
O75445:p.Glu3802Lys,benign
O75445:p.Val3809Leu,benign
O75445:p.Val3816Ala,benign
O75445:p.Thr3817Ile,benign
O75445:p.His3825Pro,benign
O75445:p.Thr3835Ala,benign
O75445:p.Ser3851Gly,benign
O75445:p.Met3868Val,benign
O75445:p.Val3874Ala,benign
O75445:p.Cys3882Ser,benign
O75445:p.Glu3884Gln,benign
O75445:p.Asn3894Asp,pathogenic
O75445:p.Gly3895Glu,pathogenic
O75445:p.Val3914Leu,benign
O75445:p.Val3917Ile,benign
O75445:p.Met3926Ile,benign
O75445:p.Met3926Thr,benign
O75445:p.Arg3933Lys,benign
O75445:p.Leu3954Pro,benign
O75445:p.Gln3959Arg,benign
O75445:p.Ala3975Val,benign
O75445:p.Thr3976Met,pathogenic
O75445:p.Leu3982Pro,benign
O75445:p.Ile3994Val,benign
O75445:p.Arg3999Cys,benign
O75445:p.Arg4005Lys,benign
O75445:p.Asp4007Asn,benign
O75445:p.Thr4015Ala,benign
O75445:p.Lys4022Met,benign
O75445:p.Tyr4031Phe,benign
O75445:p.Arg4040Leu,benign
O75445:p.Ile4041Val,benign
O75445:p.Ser4054Ile,pathogenic
O75445:p.Asn4101Ser,benign
O75445:p.Phe4107Leu,benign
O75445:p.Arg4115Cys,pathogenic
O75445:p.Glu4133Gln,benign
O75445:p.Arg4137Thr,benign
O75445:p.Pro4145Ser,benign
O75445:p.Val4163Ala,benign
O75445:p.Ser4174Asn,benign
O75445:p.Ile4186Thr,benign
O75445:p.Ile4205Val,benign
O75445:p.Asp4208Asn,benign
O75445:p.Arg4220Lys,benign
O75445:p.Met4224Ile,benign
O75445:p.Met4224Leu,benign
O75445:p.Pro4232Arg,pathogenic
O75445:p.Tyr4241Cys,benign
O75445:p.Cys4250Tyr,benign
O75445:p.Ser4252Pro,benign
O75445:p.Thr4258Met,benign
O75445:p.Leu4259Ser,benign
O75445:p.Met4276Arg,benign
O75445:p.Met4305Thr,benign
O75445:p.Pro4313Ala,benign
O75445:p.Thr4337Met,pathogenic
O75445:p.Ser4338Thr,benign
O75445:p.Pro4346Ser,benign
O75445:p.Ser4357Ala,benign
O75445:p.Glu4358Gly,benign
O75445:p.Trp4365Arg,benign
O75445:p.Ala4366Thr,benign
O75445:p.Val4367Ile,benign
O75445:p.Met4372Ile,benign
O75445:p.Cys4375Ser,benign
O75445:p.Thr4380Ala,benign
O75445:p.Val4381Leu,benign
O75445:p.Gln4382Lys,benign
O75445:p.Lys4396Glu,benign
O75445:p.Gly4401Ser,benign
O75445:p.Gly4403Asp,benign
O75445:p.Ser4415Thr,benign
O75445:p.Leu4421Val,benign
O75445:p.Thr4439Ile,pathogenic
O75445:p.Glu4445Lys,benign
O75445:p.Asn4446Thr,benign
O75445:p.Thr4484Ile,benign
O75445:p.Tyr4487Cys,pathogenic
O75445:p.Arg4495His,benign
O75445:p.Val4503Met,benign
O75445:p.Ser4506Gly,benign
O75445:p.Ser4512Asn,benign
O75445:p.Pro4521Arg,benign
O75445:p.Val4523Ala,benign
O75445:p.Ser4528Asn,benign
O75445:p.Met4535Ile,benign
O75445:p.Lys4539Arg,benign
O75445:p.Arg4543Gly,benign
O75445:p.Arg4557Lys,benign
O75445:p.Ile4563Leu,benign
O75445:p.Glu4574Gln,benign
O75445:p.Met4591Thr,benign
O75445:p.Gln4592His,pathogenic
O75445:p.Asn4597Lys,benign
O75445:p.Asp4621Glu,benign
O75445:p.Thr4627Met,benign
O75445:p.Ala4631Pro,benign
O75445:p.Thr4652Ile,benign
O75445:p.Tyr4669Cys,benign
O75445:p.Arg4674Gly,pathogenic
O75445:p.Ile4677Met,benign
O75445:p.Ile4677Thr,benign
O75445:p.Thr4679Ile,benign
O75445:p.Arg4682Gly,benign
O75445:p.Asn4685Ser,benign
O75445:p.Ile4698Met,benign
O75445:p.Glu4707Gln,benign
O75445:p.Leu4738Val,benign
O75445:p.Val4745Ala,benign
O75445:p.Ile4746Val,benign
O75445:p.Gly4759Lys,benign
O75445:p.Gly4759Arg,benign
O75445:p.Val4765Ile,benign
O75445:p.Ala4775Ile,benign
O75445:p.Leu4795Arg,pathogenic
O75445:p.Gln4796His,benign
O75445:p.Pro4818Leu,pathogenic
O75445:p.Gln4836His,benign
O75445:p.Gly4838Glu,benign
O75445:p.Gly4838Lys,benign
O75445:p.Thr4839Met,benign
O75445:p.Thr4844Met,benign
O75445:p.Arg4848Gln,benign
O75445:p.Pro4851Ser,benign
O75445:p.Asn4856Ser,benign
O75445:p.His4860Tyr,benign
O75445:p.Phe4866Leu,benign
O75445:p.Ala4869Val,benign
O75445:p.Pro4871Leu,benign
O75445:p.Pro4877Ser,benign
O75445:p.Thr4888Met,benign
O75445:p.Leu4907Val,benign
O75445:p.Ser4924Asn,benign
O75445:p.Asp4953Gly,benign
O75445:p.Leu4956Phe,benign
O75445:p.Gln4960Pro,benign
O75445:p.Val4973Met,benign
O75445:p.Leu4977Phe,benign
O75445:p.Glu5001Gln,benign
O75445:p.Pro5024Ser,benign
O75445:p.Lys5026Glu,benign
O75445:p.Arg5031Gln,benign
O75445:p.Met5049Ile,benign
O75445:p.Leu5059Val,benign
O75445:p.Ile5062Thr,benign
O75445:p.Leu5063Arg,pathogenic
O75445:p.His5068Leu,benign
O75445:p.Pro5094Gln,benign
O75445:p.Met5099Ile,benign
O75445:p.Pro5107Ile,benign
O75445:p.Arg5116His,benign
O75445:p.Arg5119Gln,benign
O75445:p.Asn5130Ser,benign
O75445:p.Ser5133Gly,benign
O75445:p.Ser5137Thr,benign
O75445:p.Arg5143Cys,pathogenic
O75445:p.Ile5151Val,benign
O75445:p.Asn5160Asp,benign
O75445:p.Ile5166Val,benign
O75445:p.Asn5170Asp,benign
O75445:p.Asn5170Ser,benign
O75445:p.Asp5186Gly,benign
O75445:p.Arg5194His,benign
P21802:p.Met1Pro,benign
P21802:p.Val2Gly,benign
P21802:p.Ser3Gly,benign
P21802:p.Ser3Asn,benign
P21802:p.Trp4Lys,benign
P21802:p.Gly5Ala,benign
P21802:p.Gly5Ser,benign
P21802:p.Arg6His,benign
P21802:p.Arg6Thr,benign
P21802:p.Phe7Cys,benign
P21802:p.Phe7Asp,benign
P21802:p.Ile8Phe,benign
P21802:p.Ile8Gly,benign
P21802:p.Ile8Leu,benign
P21802:p.Ile8Val,benign
P21802:p.Cys9Gly,benign
P21802:p.Cys9Ser,benign
P21802:p.Leu10Trp,benign
P21802:p.Val11Ala,benign
P21802:p.Val11Met,benign
P21802:p.Val11Thr,benign
P21802:p.Val12Ala,benign
P21802:p.Val12Phe,benign
P21802:p.Val12Leu,benign
P21802:p.Val12Met,benign
P21802:p.Val13Ile,benign
P21802:p.Val13Leu,benign
P21802:p.Val13Ser,benign
P21802:p.Thr14Pro,benign
P21802:p.Thr14Ser,benign
P21802:p.Met15Leu,benign
P21802:p.Met15Val,benign
P21802:p.Ala16Gly,benign
P21802:p.Ala16Pro,benign
P21802:p.Thr17Pro,benign
P21802:p.Leu18His,benign
P21802:p.Leu18Ser,benign
P21802:p.Leu18Val,benign
P21802:p.Ser19Ala,benign
P21802:p.Ser19His,benign
P21802:p.Leu20Val,benign
P21802:p.Ala21His,benign
P21802:p.Ala21Ser,benign
P21802:p.Arg22Ala,benign
P21802:p.Arg22Pro,benign
P21802:p.Pro23Ser,benign
P21802:p.Phe25Leu,benign
P21802:p.Phe25Ser,benign
P21802:p.Ser26Asp,benign
P21802:p.Ser26Asn,benign
P21802:p.Leu27Phe,benign
P21802:p.Leu27His,benign
P21802:p.Val28Ala,benign
P21802:p.Glu29Ala,benign
P21802:p.Glu29Asp,benign
P21802:p.Glu29Gly,benign
P21802:p.Glu29Lys,benign
P21802:p.Asp30Gly,benign
P21802:p.Asp30Ser,benign
P21802:p.Thr31Ala,benign
P21802:p.Thr31Arg,benign
P21802:p.Thr31Ser,benign
P21802:p.Thr32Met,benign
P21802:p.Thr32Arg,benign
P21802:p.Leu33Phe,benign
P21802:p.Leu33Met,benign
P21802:p.Leu33Val,benign
P21802:p.Glu34Leu,benign
P21802:p.Glu34Ser,benign
P21802:p.Glu34Thr,benign
P21802:p.Pro35Ala,benign
P21802:p.Pro35Glu,benign
P21802:p.Pro35Thr,benign
P21802:p.Pro38Leu,benign
P21802:p.Pro39Ser,benign
P21802:p.Lys41Glu,benign
P21802:p.Glu48Asp,benign
P21802:p.Val49Ala,benign
P21802:p.Val49Ser,benign
P21802:p.Tyr50Cys,benign
P21802:p.Tyr50Ser,benign
P21802:p.Val51Ala,benign
P21802:p.Ala52Val,benign
P21802:p.Ala53Thr,benign
P21802:p.Ala53Val,benign
P21802:p.Gly55Arg,benign
P21802:p.Glu56Asp,benign
P21802:p.Ser57Phe,benign
P21802:p.Ser57Pro,benign
P21802:p.Val60Leu,benign
P21802:p.Arg61Gly,benign
P21802:p.Arg61His,benign
P21802:p.Arg61Gln,benign
P21802:p.Leu63Met,benign
P21802:p.Leu63Pro,benign
P21802:p.Leu63Gln,benign
P21802:p.Leu63Arg,benign
P21802:p.Lys65Arg,benign
P21802:p.Ala67Val,benign
P21802:p.Ala68Ser,benign
P21802:p.Ala68Thr,benign
P21802:p.Val69Ala,benign
P21802:p.Val69Gly,benign
P21802:p.Val69Leu,benign
P21802:p.Val69Met,benign
P21802:p.Val69Thr,benign
P21802:p.Ser71Ile,benign
P21802:p.Val77Gly,benign
P21802:p.His78Gln,benign
P21802:p.His78Arg,benign
P21802:p.Asn82Ser,benign
P21802:p.Val86Ile,benign
P21802:p.Ile88Thr,benign
P21802:p.Ile94Val,benign
P21802:p.Lys95Glu,benign
P21802:p.Lys95Arg,benign
P21802:p.Thr98Ser,benign
P21802:p.Pro99Ser,benign
P21802:p.Asp101Val,benign
P21802:p.Tyr105Cys,pathogenic
P21802:p.Ala106Thr,benign
P21802:p.Thr108Ala,benign
P21802:p.Thr108Ser,benign
P21802:p.Ala109Thr,benign
P21802:p.Ser110Ala,benign
P21802:p.Ser110Thr,benign
P21802:p.Arg111Gly,benign
P21802:p.Arg111Ser,benign
P21802:p.Thr112Asn,benign
P21802:p.Thr112Pro,benign
P21802:p.Thr112Ser,benign
P21802:p.Val113Ile,benign
P21802:p.Asp114Gly,benign
P21802:p.Glu116Asp,benign
P21802:p.Thr117Ala,benign
P21802:p.Trp118Leu,benign
P21802:p.Trp118Val,benign
P21802:p.Tyr119Ile,benign
P21802:p.Phe120Cys,benign
P21802:p.Phe120Tyr,benign
P21802:p.Met121Ile,benign
P21802:p.Val124Ile,benign
P21802:p.Ala127Thr,benign
P21802:p.Ile128Val,benign
P21802:p.Asp135Gly,benign
P21802:p.Thr137Ala,benign
P21802:p.Asp138Glu,benign
P21802:p.Gly139Ser,benign
P21802:p.Ala140Pro,benign
P21802:p.Ala140Ser,benign
P21802:p.Phe143Val,benign
P21802:p.Glu146Asp,benign
P21802:p.Asn147Ser,benign
P21802:p.Asn147Thr,benign
P21802:p.Ser148Gly,benign
P21802:p.Ser148Arg,benign
P21802:p.Ser148Thr,benign
P21802:p.Asn149Asp,benign
P21802:p.Asn149Gly,benign
P21802:p.Asn149Ser,benign
P21802:p.Asn150Ser,benign
P21802:p.Lys151Glu,benign
P21802:p.Lys151Gln,benign
P21802:p.Glu160Asp,benign
P21802:p.Val169Cys,benign
P21802:p.Ala172Phe,pathogenic
P21802:p.Asn184Ser,benign
P21802:p.Met186Ala,benign
P21802:p.Met186Thr,benign
P21802:p.Pro187Ser,benign
P21802:p.Thr188Ala,benign
P21802:p.Glu197Asp,benign
P21802:p.Val232Leu,benign
P21802:p.Glu236Asp,benign
P21802:p.Tyr237Phe,benign
P21802:p.Tyr237His,benign
P21802:p.Ser252Phe,pathogenic
P21802:p.Ser252Leu,pathogenic
P21802:p.Ser252Trp,pathogenic
P21802:p.Pro253Arg,pathogenic
P21802:p.Pro263Leu,pathogenic
P21802:p.Ala266Thr,benign
P21802:p.Ser267Pro,pathogenic
P21802:p.Thr268Ala,benign
P21802:p.Phe276Val,pathogenic
P21802:p.Cys278Phe,pathogenic
P21802:p.Cys278Tyr,pathogenic
P21802:p.Tyr281Cys,pathogenic
P21802:p.Ile288Ser,pathogenic
P21802:p.Gln289Pro,pathogenic
P21802:p.Trp290Cys,pathogenic
P21802:p.Trp290Gly,pathogenic
P21802:p.Trp290Arg,pathogenic
P21802:p.Lys292Glu,pathogenic
P21802:p.Tyr301Cys,pathogenic
P21802:p.Tyr301Asn,benign
P21802:p.Ala314His,benign
P21802:p.Ala315Ser,benign
P21802:p.Val317Ile,benign
P21802:p.Thr319Ser,benign
P21802:p.Thr320Ser,benign
P21802:p.Asp321Ala,pathogenic
P21802:p.Asp321Asn,benign
P21802:p.Lys322Ala,benign
P21802:p.Lys322Arg,benign
P21802:p.Ile324Val,benign
P21802:p.Glu325Leu,benign
P21802:p.Val326Ala,benign
P21802:p.Tyr328Cys,pathogenic
P21802:p.Tyr328Phe,benign
P21802:p.Asn331Ile,pathogenic
P21802:p.Phe334Glu,benign
P21802:p.Phe334Leu,benign
P21802:p.Glu335Ala,benign
P21802:p.Ala337Pro,pathogenic
P21802:p.Gly338Glu,pathogenic
P21802:p.Gly338Arg,pathogenic
P21802:p.Tyr340Cys,pathogenic
P21802:p.Tyr340His,pathogenic
P21802:p.Thr341Ile,benign
P21802:p.Thr341Pro,pathogenic
P21802:p.Cys342Phe,pathogenic
P21802:p.Cys342Gly,pathogenic
P21802:p.Cys342Arg,pathogenic
P21802:p.Cys342Ser,pathogenic
P21802:p.Cys342Trp,pathogenic
P21802:p.Cys342Tyr,pathogenic
P21802:p.Leu343Lys,benign
P21802:p.Ala344Gly,pathogenic
P21802:p.Ala344Pro,pathogenic
P21802:p.Ala344Val,benign
P21802:p.Gly345Ser,benign
P21802:p.Ser347Cys,pathogenic
P21802:p.Ser347Tyr,benign
P21802:p.Ile350Gln,benign
P21802:p.Ser351Ala,benign
P21802:p.Ser351Cys,pathogenic
P21802:p.Phe352Asn,benign
P21802:p.His353Gln,benign
P21802:p.Ser354Cys,pathogenic
P21802:p.Ser354Tyr,pathogenic
P21802:p.Val359Phe,pathogenic
P21802:p.Ala362Ser,pathogenic
P21802:p.Gly364Ile,benign
P21802:p.Gly364Val,benign
P21802:p.Glu368Asp,benign
P21802:p.Ile369Thr,benign
P21802:p.Thr370Pro,benign
P21802:p.Thr370Ser,benign
P21802:p.Ala371Pro,benign
P21802:p.Ala371Ser,benign
P21802:p.Ala371Thr,benign
P21802:p.Ser372Cys,pathogenic
P21802:p.Asp374Glu,benign
P21802:p.Tyr375Cys,pathogenic
P21802:p.Ala379Gly,benign
P21802:p.Tyr381Asp,pathogenic
P21802:p.Gly384Arg,pathogenic
P21802:p.Leu387Phe,benign
P21802:p.Ala389Thr,benign
P21802:p.Ala389Val,benign
P21802:p.Met391Arg,pathogenic
P21802:p.Val393Ile,benign
P21802:p.Thr394Gly,benign
P21802:p.Thr394Ile,benign
P21802:p.Leu397Phe,benign
P21802:p.Leu397Val,benign
P21802:p.Lys401Arg,benign
P21802:p.Asn402Thr,benign
P21802:p.Thr404Ser,benign
P21802:p.Lys406Arg,benign
P21802:p.Ser410Gly,benign
P21802:p.Thr454Ala,benign
P21802:p.Ala455Val,benign
P21802:p.Asp479Glu,benign
P21802:p.Asp506Glu,benign
P21802:p.Lys507Arg,benign
P21802:p.Glu510Asp,benign
P21802:p.Val512Ile,benign
P21802:p.Asp521Gly,benign
P21802:p.Asp522Glu,benign
P21802:p.Ala523Ser,benign
P21802:p.Thr524Gly,benign
P21802:p.Glu525Gly,benign
P21802:p.Lys526Glu,pathogenic
P21802:p.Lys526Arg,benign
P21802:p.Lys543Arg,benign
P21802:p.Asn549His,pathogenic
P21802:p.Tyr561Phe,benign
P21802:p.Val562Ala,benign
P21802:p.Ile563Leu,benign
P21802:p.Glu565Gly,pathogenic
P21802:p.Ala578Val,benign
P21802:p.Thr599Ala,benign
P21802:p.Cys606Ser,benign
P21802:p.Ala628Thr,pathogenic
P21802:p.Lys641Arg,pathogenic
P21802:p.Ala648Thr,pathogenic
P21802:p.Gly663Glu,pathogenic
P21802:p.Gly663Val,benign
P21802:p.Arg664Ser,benign
P21802:p.Val667Met,benign
P21802:p.Lys668Arg,benign
P21802:p.Met670Val,benign
P21802:p.Ala671Cys,benign
P21802:p.Pro672Ala,benign
P21802:p.Glu673Lys,benign
P21802:p.Ala674Gly,benign
P21802:p.Phe676Tyr,benign
P21802:p.Asp677Tyr,benign
P21802:p.Arg678Gly,pathogenic
P21802:p.Arg678Tyr,benign
P21802:p.Val679Leu,benign
P21802:p.Tyr680Met,benign
P21802:p.Thr681Gln,benign
P21802:p.His682Pro,benign
P21802:p.Gln683His,benign
P21802:p.Gln683Lys,benign
P21802:p.Asp685Gln,benign
P21802:p.Val686Asn,benign
P21802:p.Glu718Asp,benign
P21802:p.Ala726Thr,benign
P21802:p.Asn730Ser,benign
P21802:p.Glu731Asp,benign
P21802:p.Ile760Val,benign
P21802:p.Thr765Ala,benign
P21802:p.Glu768Asp,benign
P21802:p.Ser773Thr,benign
P21802:p.Pro775Leu,benign
P21802:p.Gln778Pro,benign
P21802:p.Ser782Cys,benign
P21802:p.Tyr783Phe,benign
P21802:p.Tyr783Ser,benign
P21802:p.Thr786Pro,benign
P21802:p.Thr786Ser,benign
P21802:p.Arg787Ser,benign
P21802:p.Ser788Ile,benign
P21802:p.Ser799Thr,benign
P21802:p.Met803Leu,benign
P21802:p.Pro804Cys,benign
P21802:p.Glu806Asp,benign
P21802:p.Glu806Gly,benign
P21802:p.Cys808Arg,benign
P21802:p.Gln811Glu,benign
P21802:p.Pro813Ala,benign
P21802:p.Ile815Ala,benign
P21802:p.Ile815Gly,benign
P21802:p.Ile815Arg,benign
P21802:p.Ile815Val,benign
P21802:p.Asn816Asp,benign
P21802:p.Gly817Ser,benign
P21802:p.Ser818Thr,benign
P21802:p.Lys820Asn,benign
P21802:p.Lys820Gln,benign
P21802:p.Lys820Arg,benign
P29400:p.Leu8Gln,benign
P29400:p.Leu12Trp,benign
P29400:p.Phe13Ser,benign
P29400:p.Leu19Pro,benign
P29400:p.Ala28Thr,benign
P29400:p.Gly35Glu,benign
P29400:p.Ser41Thr,benign
P29400:p.Gly54Asp,pathogenic
P29400:p.Pro94Leu,benign
P29400:p.Gly114Ser,pathogenic
P29400:p.Ile121Val,benign
P29400:p.Gly123Glu,pathogenic
P29400:p.Gly129Glu,pathogenic
P29400:p.Gly129Val,pathogenic
P29400:p.Arg131His,benign
P29400:p.Gln143Pro,benign
P29400:p.Gly174Arg,pathogenic
P29400:p.Gly177Cys,pathogenic
P29400:p.Gly177Arg,pathogenic
P29400:p.Ile181Leu,benign
P29400:p.Ile181Val,benign
P29400:p.Leu184Pro,benign
P29400:p.Pro185Ala,benign
P29400:p.Gly192Arg,pathogenic
P29400:p.Gly204Val,pathogenic
P29400:p.Gly216Arg,pathogenic
P29400:p.Gly219Ser,pathogenic
P29400:p.Gly230Arg,pathogenic
P29400:p.Gly239Glu,pathogenic
P29400:p.Ile251Thr,benign
P29400:p.Gly264Arg,pathogenic
P29400:p.Pro269Thr,benign
P29400:p.Ile274Met,benign
P29400:p.Arg275His,benign
P29400:p.Pro278Thr,benign
P29400:p.Glu284Val,benign
P29400:p.Gly289Val,pathogenic
P29400:p.Gly292Arg,pathogenic
P29400:p.Gly292Val,pathogenic
P29400:p.Gly295Asp,pathogenic
P29400:p.Gly298Ser,pathogenic
P29400:p.Asn306Ser,benign
P29400:p.Gly319Arg,pathogenic
P29400:p.Gly325Glu,pathogenic
P29400:p.Gly325Arg,pathogenic
P29400:p.Gly331Val,pathogenic
P29400:p.Thr336Ile,benign
P29400:p.Ile353Val,benign
P29400:p.Ile355Val,benign
P29400:p.Gly365Glu,pathogenic
P29400:p.Gly371Glu,pathogenic
P29400:p.Gly374Ala,pathogenic
P29400:p.Gly383Asp,pathogenic
P29400:p.Ala390Thr,benign
P29400:p.Val392Ala,benign
P29400:p.Met393Ile,benign
P29400:p.Met393Val,benign
P29400:p.Gly400Glu,pathogenic
P29400:p.Gly406Val,pathogenic
P29400:p.Gly409Asp,pathogenic
P29400:p.Gly412Val,pathogenic
P29400:p.Gly415Arg,pathogenic
P29400:p.Ile418Met,benign
P29400:p.Gly420Glu,pathogenic
P29400:p.Gly420Val,pathogenic
P29400:p.Pro421Ser,benign
P29400:p.Gly423Glu,pathogenic
P29400:p.Ala440Pro,benign
P29400:p.Asp448Gly,benign
P29400:p.Ile450Leu,benign
P29400:p.Pro453Ala,benign
P29400:p.Lys465Arg,benign
P29400:p.Gly466Glu,pathogenic
P29400:p.Gly472Arg,pathogenic
P29400:p.Val473Ile,benign
P29400:p.Val473Met,benign
P29400:p.Gly491Glu,pathogenic
P29400:p.Gly494Asp,pathogenic
P29400:p.Gly497Cys,pathogenic
P29400:p.Gly521Cys,pathogenic
P29400:p.Gly521Ser,pathogenic
P29400:p.Gly524Asp,pathogenic
P29400:p.Pro525Ser,benign
P29400:p.Pro529Ala,benign
P29400:p.Gly545Arg,pathogenic
P29400:p.Gly545Val,pathogenic
P29400:p.Gly558Arg,pathogenic
P29400:p.Gly561Arg,pathogenic
P29400:p.Gly567Ala,pathogenic
P29400:p.Gly573Asp,pathogenic
P29400:p.Thr577Ser,benign
P29400:p.Gly579Glu,pathogenic
P29400:p.Gly579Arg,pathogenic
P29400:p.Asp581Asn,benign
P29400:p.Gly595Arg,benign
P29400:p.Thr597Ala,benign
P29400:p.Phe598Ser,benign
P29400:p.Gly603Val,pathogenic
P29400:p.Gly609Arg,pathogenic
P29400:p.Gly609Val,pathogenic
P29400:p.Leu613His,benign
P29400:p.Ile617Arg,benign
P29400:p.Gly621Cys,pathogenic
P29400:p.Pro623Leu,benign
P29400:p.Gly624Asp,pathogenic
P29400:p.Gly629Asp,pathogenic
P29400:p.Val631Ala,benign
P29400:p.Gly632Asp,pathogenic
P29400:p.Glu633Lys,pathogenic
P29400:p.Gly635Asp,pathogenic
P29400:p.Gly638Ala,pathogenic
P29400:p.Gly638Ser,pathogenic
P29400:p.Gly638Val,pathogenic
P29400:p.Gly653Arg,pathogenic
P29400:p.Gly669Ala,pathogenic
P29400:p.Asp676Glu,benign
P29400:p.Gly681Asp,pathogenic
P29400:p.Asp682Glu,benign
P29400:p.Gly684Val,pathogenic
P29400:p.Gly687Glu,pathogenic
P29400:p.Leu708Phe,benign
P29400:p.Pro709His,benign
P29400:p.Gly722Glu,pathogenic
P29400:p.Pro724Ala,benign
P29400:p.Thr729Ile,benign
P29400:p.Arg732Ile,benign
P29400:p.Ile733Thr,benign
P29400:p.Pro738Leu,benign
P29400:p.Pro739Ser,pathogenic
P29400:p.Gly740Glu,pathogenic
P29400:p.Gly743Asp,pathogenic
P29400:p.Ala754Gly,benign
P29400:p.Leu755Val,benign
P29400:p.Ala770Ile,benign
P29400:p.Ala770Thr,benign
P29400:p.Gly772Asp,pathogenic
P29400:p.Arg788His,benign
P29400:p.Thr789Ala,benign
P29400:p.Leu791Ile,benign
P29400:p.Leu791Val,benign
P29400:p.Gly796Arg,pathogenic
P29400:p.Val801Ile,benign
P29400:p.Gly802Arg,pathogenic
P29400:p.Asn804Ser,benign
P29400:p.Gly808Glu,pathogenic
P29400:p.Met810Val,benign
P29400:p.Gly811Val,pathogenic
P29400:p.Ile818Thr,benign
P29400:p.Gly822Arg,pathogenic
P29400:p.Ile833Thr,benign
P29400:p.Gly852Glu,pathogenic
P29400:p.Gly852Arg,pathogenic
P29400:p.Leu853Phe,benign
P29400:p.Pro865Arg,benign
P29400:p.Gly866Glu,pathogenic
P29400:p.Gly869Arg,pathogenic
P29400:p.Gly872Arg,pathogenic
P29400:p.Pro873Ser,benign
P29400:p.Ile874Met,benign
P29400:p.Gly878Arg,pathogenic
P29400:p.Ser879Pro,benign
P29400:p.Pro892Lys,benign
P29400:p.Thr894Ala,benign
P29400:p.Met898Val,pathogenic
P29400:p.Met900Ile,benign
P29400:p.Met900Val,benign
P29400:p.Gly902Val,pathogenic
P29400:p.Gly911Glu,pathogenic
P29400:p.Val918Ile,benign
P29400:p.Thr937Ala,benign
P29400:p.Gly941Cys,pathogenic
P29400:p.Pro946Arg,benign
P29400:p.Gly947Asp,pathogenic
P29400:p.Leu948Phe,benign
P29400:p.Pro951Leu,benign
P29400:p.Gly953Val,pathogenic
P29400:p.Asn958Asp,benign
P29400:p.Glu968Asp,benign
P29400:p.Val977Ile,benign
P29400:p.Pro999His,benign
P29400:p.Pro1005Ser,benign
P29400:p.Gly1006Ala,pathogenic
P29400:p.Gly1006Val,pathogenic
P29400:p.Asn1010Asp,benign
P29400:p.Gly1015Glu,pathogenic
P29400:p.Gly1015Val,pathogenic
P29400:p.Gln1016Lys,benign
P29400:p.Ile1020Thr,benign
P29400:p.Thr1028Ala,benign
P29400:p.Thr1028Ser,benign
P29400:p.Gly1030Ser,pathogenic
P29400:p.Gly1036Val,pathogenic
P29400:p.Gly1039Ser,pathogenic
P29400:p.Val1040Ala,benign
P29400:p.Glu1041Lys,benign
P29400:p.Pro1043Ser,benign
P29400:p.Gly1045Glu,pathogenic
P29400:p.Ser1047Pro,benign
P29400:p.Val1049Ala,benign
P29400:p.Asp1064Glu,benign
P29400:p.Asp1064Gly,benign
P29400:p.Gly1066Arg,pathogenic
P29400:p.Gly1066Ser,pathogenic
P29400:p.Ser1072Gly,benign
P29400:p.Gly1086Asp,pathogenic
P29400:p.Val1100Met,benign
P29400:p.Gly1104Val,pathogenic
P29400:p.Leu1105Ser,benign
P29400:p.Gly1107Arg,pathogenic
P29400:p.Thr1111Ala,benign
P29400:p.Leu1120Phe,benign
P29400:p.Pro1129Leu,benign
P29400:p.Pro1132Ser,benign
P29400:p.Ser1136Asn,benign
P29400:p.Gly1143Asp,pathogenic
P29400:p.Gly1143Ser,pathogenic
P29400:p.Glu1147Gln,benign
P29400:p.Pro1148Thr,benign
P29400:p.Val1151Ile,benign
P29400:p.His1156Arg,benign
P29400:p.Gly1158Arg,pathogenic
P29400:p.Gln1159Pro,benign
P29400:p.Gly1161Arg,pathogenic
P29400:p.Gly1167Ser,pathogenic
P29400:p.Gly1170Ser,pathogenic
P29400:p.Gly1182Arg,pathogenic
P29400:p.Asn1191Ile,benign
P29400:p.Asn1191Thr,benign
P29400:p.Gly1196Arg,pathogenic
P29400:p.Gly1205Cys,pathogenic
P29400:p.Gly1211Glu,pathogenic
P29400:p.Gly1211Arg,pathogenic
P29400:p.Gly1220Asp,pathogenic
P29400:p.Gly1229Asp,pathogenic
P29400:p.Val1233Leu,benign
P29400:p.Val1233Met,benign
P29400:p.Gly1241Cys,pathogenic
P29400:p.Ser1242Pro,benign
P29400:p.Gly1244Asp,pathogenic
P29400:p.Gly1252Ser,pathogenic
P29400:p.Gly1261Glu,pathogenic
P29400:p.Gly1270Ser,pathogenic
P29400:p.Pro1271Ser,benign
P29400:p.Pro1272Arg,benign
P29400:p.Gly1278Glu,benign
P29400:p.Gly1279Ala,benign
P29400:p.Lys1284Arg,benign
P29400:p.Leu1292Gln,benign
P29400:p.Gln1302His,benign
P29400:p.Pro1304Gln,benign
P29400:p.Pro1332Ser,benign
P29400:p.Gly1333Ser,pathogenic
P29400:p.Ser1338Pro,benign
P29400:p.Val1340Ile,benign
P29400:p.Ala1344Thr,benign
P29400:p.Ile1353Thr,benign
P29400:p.Gly1357Ser,pathogenic
P29400:p.Leu1361Ile,benign
P29400:p.Ala1375Ser,benign
P29400:p.Gly1379Val,pathogenic
P29400:p.Pro1392Leu,benign
P29400:p.Gln1393Pro,benign
P29400:p.Thr1402Ile,benign
P29400:p.Arg1410Cys,pathogenic
P29400:p.Arg1410His,benign
P29400:p.Gly1421Trp,pathogenic
P29400:p.Arg1422Cys,pathogenic
P29400:p.Gly1427Val,pathogenic
P29400:p.Gly1442Asp,pathogenic
P29400:p.Gly1451Ser,pathogenic
P29400:p.Ser1456Thr,benign
P29400:p.Ser1457Pro,benign
P29400:p.Ser1457Thr,benign
P29400:p.Val1458Ile,benign
P29400:p.Val1458Thr,benign
P29400:p.Thr1470Ala,benign
P29400:p.Thr1470Ser,benign
P29400:p.Thr1471Met,benign
P29400:p.Leu1481Ile,benign
P29400:p.Val1483Ile,benign
P29400:p.Gly1486Ala,pathogenic
P29400:p.Ser1488Phe,pathogenic
P29400:p.Ala1498Asp,pathogenic
P29400:p.Arg1511His,pathogenic
P29400:p.Pro1517Thr,pathogenic
P29400:p.Trp1538Ser,pathogenic
P29400:p.Met1547Val,benign
P29400:p.Gln1550Glu,benign
P29400:p.Ser1556Gly,benign
P29400:p.Arg1563Gln,pathogenic
P29400:p.Cys1564Ser,pathogenic
P29400:p.Ala1565Val,benign
P29400:p.Cys1567Arg,pathogenic
P29400:p.Val1572Met,benign
P29400:p.His1585Arg,benign
P29400:p.Asp1591Asn,benign
P29400:p.Gly1596Asp,pathogenic
P29400:p.Leu1649Arg,pathogenic
P29400:p.Arg1677Pro,pathogenic
P29400:p.Arg1677Gln,pathogenic
P29400:p.Cys1678Trp,pathogenic
P00480:p.Phe3Ile,benign
P00480:p.Phe3Leu,benign
P00480:p.Asn4His,benign
P00480:p.Leu5Phe,benign
P00480:p.Ile7Thr,benign
P00480:p.Asn10Tyr,benign
P00480:p.Asn11Lys,benign
P00480:p.Asn11Ser,benign
P00480:p.Ala12Thr,benign
P00480:p.Ala13Thr,benign
P00480:p.Ala13Val,benign
P00480:p.Phe14Leu,benign
P00480:p.Gly17Ala,benign
P00480:p.Gly17Ser,benign
P00480:p.His18Cys,benign
P00480:p.His18Pro,benign
P00480:p.His18Tyr,benign
P00480:p.Asn19His,benign
P00480:p.Asn19Arg,benign
P00480:p.Asn19Ser,benign
P00480:p.Phe20Leu,benign
P00480:p.Phe20Val,benign
P00480:p.Met21Ala,benign
P00480:p.Met21Val,benign
P00480:p.Val22Leu,benign
P00480:p.Phe25Tyr,benign
P00480:p.Arg26Gly,benign
P00480:p.Arg26Gln,pathogenic
P00480:p.Arg26Trp,benign
P00480:p.Pro30Ser,benign
P00480:p.Leu31Val,benign
P00480:p.Gln32His,benign
P00480:p.Asn33Asp,benign
P00480:p.Val35Glu,benign
P00480:p.Gly39Cys,pathogenic
P00480:p.Arg40Cys,pathogenic
P00480:p.Arg40His,pathogenic
P00480:p.Thr44Ile,pathogenic
P00480:p.Leu45Pro,pathogenic
P00480:p.Leu45Val,pathogenic
P00480:p.Asn47Asp,benign
P00480:p.Asn47Ile,pathogenic
P00480:p.Asn47Thr,benign
P00480:p.Gly50Glu,benign
P00480:p.Gly50Arg,pathogenic
P00480:p.Glu52Asp,benign
P00480:p.Tyr55Asp,pathogenic
P00480:p.Met56Ile,benign
P00480:p.Met56Thr,pathogenic
P00480:p.Ser60Leu,pathogenic
P00480:p.Leu63Pro,pathogenic
P00480:p.Phe65Leu,benign
P00480:p.Phe65Asn,benign
P00480:p.Gln69Glu,benign
P00480:p.Gln69His,benign
P00480:p.Lys70Asn,benign
P00480:p.Gly71Arg,benign
P00480:p.Leu74Trp,benign
P00480:p.Gly79Glu,pathogenic
P00480:p.Ser81Ala,benign
P00480:p.Gly83Asp,pathogenic
P00480:p.Gly83Arg,pathogenic
P00480:p.Gly83Ser,benign
P00480:p.Glu87Lys,pathogenic
P00480:p.Lys88Asn,pathogenic
P00480:p.Ser90Arg,pathogenic
P00480:p.Arg92Gln,pathogenic
P00480:p.Thr93Ala,pathogenic
P00480:p.Arg94Thr,pathogenic
P00480:p.Gly100Asp,pathogenic
P00480:p.Ala102Glu,pathogenic
P00480:p.Gln114Asp,benign
P00480:p.His117Leu,pathogenic
P00480:p.His117Arg,pathogenic
P00480:p.Thr125Lys,benign
P00480:p.Thr125Met,pathogenic
P00480:p.Asp126Gly,pathogenic
P00480:p.Arg129His,pathogenic
P00480:p.Ala135Thr,benign
P00480:p.Leu139Ser,pathogenic
P00480:p.Ala140Pro,pathogenic
P00480:p.Arg141Pro,pathogenic
P00480:p.Arg141Gln,pathogenic
P00480:p.Leu148Phe,pathogenic
P00480:p.Thr150Ile,benign
P00480:p.Thr150Leu,benign
P00480:p.Thr150Asn,benign
P00480:p.Thr150Val,benign
P00480:p.Ile159Thr,pathogenic
P00480:p.Ile160Ser,pathogenic
P00480:p.Ile160Val,benign
P00480:p.Asn161Ser,pathogenic
P00480:p.Gly162Arg,pathogenic
P00480:p.Leu166Ser,benign
P00480:p.His168Gln,pathogenic
P00480:p.His168Arg,pathogenic
P00480:p.Ile170Val,benign
P00480:p.Ile172Phe,pathogenic
P00480:p.Ile172Met,pathogenic
P00480:p.Ala174Pro,pathogenic
P00480:p.Asp175Val,pathogenic
P00480:p.Tyr176Cys,pathogenic
P00480:p.Thr178Met,pathogenic
P00480:p.Gln180His,pathogenic
P00480:p.Glu181Gly,pathogenic
P00480:p.His182Leu,pathogenic
P00480:p.Tyr183Cys,pathogenic
P00480:p.Tyr183Asp,pathogenic
P00480:p.Ser184Gly,benign
P00480:p.Gly188Arg,pathogenic
P00480:p.Gly188Val,pathogenic
P00480:p.Leu191Phe,pathogenic
P00480:p.Ser192Arg,pathogenic
P00480:p.Gly195Arg,pathogenic
P00480:p.Asp196Val,pathogenic
P00480:p.Asp196Tyr,pathogenic
P00480:p.Gly197Glu,pathogenic
P00480:p.Gly197Arg,pathogenic
P00480:p.Asn198Lys,pathogenic
P00480:p.Leu201Pro,pathogenic
P00480:p.His202Tyr,pathogenic
P00480:p.Ser203Cys,pathogenic
P00480:p.Met206Ile,pathogenic
P00480:p.Met206Arg,pathogenic
P00480:p.Ser207Arg,pathogenic
P00480:p.Ala208Thr,pathogenic
P00480:p.Ala209Val,pathogenic
P00480:p.Phe211Val,benign
P00480:p.Phe211Tyr,benign
P00480:p.Gly212Arg,benign
P00480:p.Met213Lys,pathogenic
P00480:p.His214Tyr,pathogenic
P00480:p.Leu215Ile,benign
P00480:p.Gln216Glu,pathogenic
P00480:p.Gln216Arg,benign
P00480:p.Ala217Val,benign
P00480:p.Pro220Ala,pathogenic
P00480:p.Pro225Leu,pathogenic
P00480:p.Pro225Arg,pathogenic
P00480:p.Pro225Thr,pathogenic
P00480:p.Ala227Pro,benign
P00480:p.Ser228Asn,benign
P00480:p.Val229Ile,benign
P00480:p.Thr230Ile,benign
P00480:p.Leu232Met,benign
P00480:p.Leu232Val,benign
P00480:p.Glu234Lys,benign
P00480:p.Gln235Glu,benign
P00480:p.Asn240His,benign
P00480:p.Gly241Asp,benign
P00480:p.Gly241Asn,benign
P00480:p.Thr242Ile,pathogenic
P00480:p.Lys243Gln,benign
P00480:p.Lys243Arg,benign
P00480:p.Leu244Met,benign
P00480:p.Leu244Gln,pathogenic
P00480:p.Leu245Ser,benign
P00480:p.Thr247Lys,pathogenic
P00480:p.Thr247Met,benign
P00480:p.Asn248His,benign
P00480:p.Asp249Glu,benign
P00480:p.His255Cys,benign
P00480:p.His255Lys,benign
P00480:p.His255Pro,pathogenic
P00480:p.His255Gln,benign
P00480:p.His255Arg,benign
P00480:p.Val259Ala,benign
P00480:p.Thr262Lys,pathogenic
P00480:p.Asp263Gly,pathogenic
P00480:p.Asp263Asn,pathogenic
P00480:p.Thr264Ala,pathogenic
P00480:p.Thr264Ile,pathogenic
P00480:p.Trp265Leu,pathogenic
P00480:p.Ser267Arg,pathogenic
P00480:p.Met268Thr,pathogenic
P00480:p.Gly269Glu,pathogenic
P00480:p.Lys276Arg,benign
P00480:p.Arg277Gln,pathogenic
P00480:p.Arg277Trp,pathogenic
P00480:p.Leu278Phe,benign
P00480:p.Gln282Lys,benign
P00480:p.Lys292Glu,benign
P00480:p.Val293Leu,benign
P00480:p.Ser296Pro,benign
P00480:p.Leu301Phe,pathogenic
P00480:p.His302Leu,pathogenic
P00480:p.His302Gln,pathogenic
P00480:p.His302Tyr,pathogenic
P00480:p.Cys303Arg,pathogenic
P00480:p.Cys303Tyr,pathogenic
P00480:p.Leu304Phe,pathogenic
P00480:p.Pro305His,pathogenic
P00480:p.Asp312Glu,benign
P00480:p.Pro319Ser,benign
P00480:p.Arg320Lys,benign
P00480:p.Arg320Leu,pathogenic
P00480:p.Arg320Gln,benign
P00480:p.Glu326Lys,pathogenic
P00480:p.Arg330Gly,pathogenic
P00480:p.Ile334Val,benign
P00480:p.Ala336Ser,pathogenic
P00480:p.Val337Ile,benign
P00480:p.Val337Leu,pathogenic
P00480:p.Val339Leu,pathogenic
P00480:p.Ser340Pro,pathogenic
P00480:p.Leu341Pro,pathogenic
P00480:p.Thr343Lys,pathogenic
P00480:p.Asp344Asn,benign
P00480:p.Tyr345Cys,pathogenic
P00480:p.Tyr345Asp,pathogenic
P00480:p.Ser346Ala,benign
P00480:p.Ser346Ile,benign
P00480:p.Ser346Leu,benign
P00480:p.Gln348Lys,benign
P00480:p.Pro352Leu,benign
P00480:p.Phe354Cys,pathogenic
P25189:p.Ser9Asn,benign
P25189:p.Ser11His,benign
P25189:p.Pro12Phe,benign
P25189:p.Ile13Val,benign
P25189:p.Val16Ala,benign
P25189:p.Val16Met,benign
P25189:p.Ser21Leu,benign
P25189:p.Leu22Phe,benign
P25189:p.Ser25Cys,benign
P25189:p.Ser25Phe,benign
P25189:p.Ser25Pro,benign
P25189:p.Ser25Tyr,benign
P25189:p.Pro26Leu,benign
P25189:p.Ile30Met,pathogenic
P25189:p.Val32Phe,pathogenic
P25189:p.Thr34Ile,pathogenic
P25189:p.Asp35Tyr,pathogenic
P25189:p.Arg36Lys,benign
P25189:p.His39Pro,pathogenic
P25189:p.His39Tyr,benign
P25189:p.Ala41Glu,benign
P25189:p.Ser44Phe,pathogenic
P25189:p.Arg45Lys,benign
P25189:p.Arg45Gln,benign
P25189:p.His49Tyr,benign
P25189:p.Ser51Phe,pathogenic
P25189:p.Ser54Cys,pathogenic
P25189:p.Ser54Pro,pathogenic
P25189:p.Val58Phe,pathogenic
P25189:p.Asp60His,pathogenic
P25189:p.Ile62Phe,pathogenic
P25189:p.Ile62Met,pathogenic
P25189:p.Ser63Cys,pathogenic
P25189:p.Ser63Phe,pathogenic
P25189:p.Thr65Ala,pathogenic
P25189:p.Thr65Ile,pathogenic
P25189:p.Tyr68Cys,pathogenic
P25189:p.Tyr68Phe,benign
P25189:p.Asp75Val,pathogenic
P25189:p.Ser78Leu,pathogenic
P25189:p.Ser78Trp,pathogenic
P25189:p.His81Arg,pathogenic
P25189:p.Tyr82Cys,pathogenic
P25189:p.Ile89Asn,pathogenic
P25189:p.Asp90Glu,pathogenic
P25189:p.Val92Met,pathogenic
P25189:p.Gly93Glu,pathogenic
P25189:p.Thr94Ala,benign
P25189:p.Lys96Glu,pathogenic
P25189:p.Glu97Val,pathogenic
P25189:p.Arg98Cys,pathogenic
P25189:p.Arg98His,pathogenic
P25189:p.Arg98Pro,pathogenic
P25189:p.Arg98Ser,pathogenic
P25189:p.Ile99Thr,pathogenic
P25189:p.Trp101Cys,pathogenic
P25189:p.Gly103Glu,pathogenic
P25189:p.Arg106His,benign
P25189:p.Arg106Leu,benign
P25189:p.Arg106Gln,benign
P25189:p.Arg106Tyr,benign
P25189:p.Asp109Asn,pathogenic
P25189:p.Gly110Asp,pathogenic
P25189:p.Ile112Thr,pathogenic
P25189:p.Val113Ile,benign
P25189:p.Ile114Thr,pathogenic
P25189:p.Asn116His,pathogenic
P25189:p.Asp118Asn,pathogenic
P25189:p.Asn122Ser,pathogenic
P25189:p.Gly123Cys,pathogenic
P25189:p.Thr124Lys,pathogenic
P25189:p.Thr124Met,pathogenic
P25189:p.Cys127Tyr,pathogenic
P25189:p.Asp128Glu,pathogenic
P25189:p.Asp128Asn,pathogenic
P25189:p.Lys130Arg,pathogenic
P25189:p.Asn131Lys,pathogenic
P25189:p.Pro132Leu,pathogenic
P25189:p.Asp134Glu,pathogenic
P25189:p.Asp134Gly,pathogenic
P25189:p.Asp134Asn,pathogenic
P25189:p.Ile135Leu,pathogenic
P25189:p.Ile135Thr,pathogenic
P25189:p.Val136Glu,pathogenic
P25189:p.Gly137Ser,pathogenic
P25189:p.Lys138Asn,pathogenic
P25189:p.Thr139Asn,pathogenic
P25189:p.Ser140Thr,pathogenic
P25189:p.Thr143Met,pathogenic
P25189:p.Tyr145Ser,pathogenic
P25189:p.Val146Phe,pathogenic
P25189:p.Val156Ile,benign
P25189:p.Val157Ile,benign
P25189:p.Ile162Met,pathogenic
P25189:p.Gly163Arg,pathogenic
P25189:p.Leu166Ile,benign
P25189:p.Gly167Ala,pathogenic
P25189:p.Gly167Arg,pathogenic
P25189:p.Val168Gly,benign
P25189:p.Val168Ile,benign
P25189:p.Leu170Arg,pathogenic
P25189:p.Leu172Gly,benign
P25189:p.Leu172Ser,benign
P25189:p.Leu172Val,benign
P25189:p.Leu174Gly,benign
P25189:p.Phe176Val,benign
P25189:p.Val178Leu,benign
P25189:p.Val179Ile,benign
P25189:p.Tyr181Phe,benign
P25189:p.Leu184Gln,benign
P25189:p.Ala189Thr,benign
P25189:p.Met197Val,benign
P25189:p.Lys201Arg,benign
P25189:p.Leu202Phe,benign
P25189:p.Leu202Val,benign
P25189:p.Pro205Ala,benign
P25189:p.Pro205Ser,benign
P25189:p.Gly206Ala,benign
P25189:p.Gly206Ser,benign
P25189:p.Gly206Val,benign
P25189:p.Ala209Ser,benign
P25189:p.Ala209Thr,benign
P25189:p.Ser210Thr,benign
P25189:p.Ala221Thr,pathogenic
P25189:p.Asp224Tyr,pathogenic
P25189:p.Ser226Thr,benign
P25189:p.Arg227Ser,pathogenic
P25189:p.Val232Ala,benign
P25189:p.Lys236Glu,pathogenic
P25189:p.Ala237Pro,benign
P25189:p.Ala237Ser,benign
P25189:p.Ala237Thr,benign
P54098:p.Arg3Pro,pathogenic
P54098:p.Val9Leu,benign
P54098:p.Gly15Val,benign
P54098:p.Pro18Arg,benign
P54098:p.Gly38Glu,benign
P54098:p.Gln39Arg,benign
P54098:p.Arg42Gln,benign
P54098:p.Gln43Arg,benign
P54098:p.Gln44Arg,benign
P54098:p.Gln45Arg,benign
P54098:p.Gln46Arg,benign
P54098:p.Gln51Leu,benign
P54098:p.Gln51Arg,benign
P54098:p.Gln53Pro,benign
P54098:p.Gln55Pro,benign
P54098:p.Pro56Leu,benign
P54098:p.Pro56Gln,benign
P54098:p.Leu62Pro,benign
P54098:p.Gly66Asp,benign
P54098:p.Leu69Pro,benign
P54098:p.Asp75His,benign
P54098:p.Arg81Lys,benign
P54098:p.Met94Ile,benign
P54098:p.Val118Ala,benign
P54098:p.Gly132Glu,benign
P54098:p.Leu156Ser,benign
P54098:p.Gln161Arg,benign
P54098:p.Lys165Gln,benign
P54098:p.Pro167Thr,benign
P54098:p.Ala168Gly,benign
P54098:p.Ala168Arg,benign
P54098:p.Thr207Ile,benign
P54098:p.Ser218Leu,benign
P54098:p.Gln226Arg,benign
P54098:p.Arg227Trp,pathogenic
P54098:p.Arg232Gly,pathogenic
P54098:p.Arg232His,pathogenic
P54098:p.Leu244Pro,pathogenic
P54098:p.Thr251Ala,benign
P54098:p.Thr251Ile,pathogenic
P54098:p.Gly252Ala,benign
P54098:p.Gly252Ser,benign
P54098:p.Gly268Ala,pathogenic
P54098:p.Gly286Ser,benign
P54098:p.Ser287His,benign
P54098:p.Arg288Phe,benign
P54098:p.Arg288His,benign
P54098:p.Met289Asn,benign
P54098:p.Arg290Leu,benign
P54098:p.Phe291Ser,benign
P54098:p.Leu292Phe,benign
P54098:p.Asp293Lys,benign
P54098:p.Thr294Ser,benign
P54098:p.Leu304Arg,pathogenic
P54098:p.Gln308His,pathogenic
P54098:p.Arg309Leu,pathogenic
P54098:p.Trp312Arg,pathogenic
P54098:p.Pro324Gly,benign
P54098:p.Pro324His,benign
P54098:p.Pro325Ser,benign
P54098:p.Lys327Glu,benign
P54098:p.Arg337Gly,benign
P54098:p.Gly380Asp,pathogenic
P54098:p.Gln409Glu,benign
P54098:p.Gly431Val,pathogenic
P54098:p.Ala467Thr,pathogenic
P54098:p.Asn468Asp,pathogenic
P54098:p.Glu481Asp,benign
P54098:p.Gln497His,pathogenic
P54098:p.Lys501Arg,benign
P54098:p.Glu506Asp,benign
P54098:p.Ser511Asn,pathogenic
P54098:p.Glu516Asp,benign
P54098:p.Glu516Asn,benign
P54098:p.Gly517Val,pathogenic
P54098:p.Cys533Arg,benign
P54098:p.Ala547Thr,benign
P54098:p.Arg562Gln,pathogenic
P54098:p.Arg574Trp,pathogenic
P54098:p.Arg579Trp,pathogenic
P54098:p.Pro587Leu,pathogenic
P54098:p.Met603Leu,pathogenic
P54098:p.Arg627Gln,pathogenic
P54098:p.Arg627Trp,pathogenic
P54098:p.Leu631Val,benign
P54098:p.Leu634Phe,benign
P54098:p.Pro648Arg,pathogenic
P54098:p.Met669Thr,benign
P54098:p.Gly674Asp,benign
P54098:p.Met705Val,benign
P54098:p.Glu706Asp,benign
P54098:p.Arg709Gly,benign
P54098:p.Leu719Pro,benign
P54098:p.Arg722Pro,benign
P54098:p.Gly724Ser,benign
P54098:p.Thr728Ser,benign
P54098:p.Ser731Asn,benign
P54098:p.Gly737Arg,pathogenic
P54098:p.Trp748Ser,pathogenic
P54098:p.Ala767Asp,pathogenic
P54098:p.Arg807Cys,pathogenic
P54098:p.Arg807Pro,pathogenic
P54098:p.Tyr831Cys,pathogenic
P54098:p.Gly848Ser,pathogenic
P54098:p.Arg853Trp,pathogenic
P54098:p.Asn864Ser,pathogenic
P54098:p.Gln879His,pathogenic
P54098:p.Thr885Ser,pathogenic
P54098:p.Ala889Thr,pathogenic
P54098:p.Thr914Pro,pathogenic
P54098:p.Gly923Asp,pathogenic
P54098:p.His932Tyr,pathogenic
P54098:p.Thr937Ala,benign
P54098:p.Arg943His,pathogenic
P54098:p.Ile948Val,benign
P54098:p.Arg953Cys,pathogenic
P54098:p.Tyr955Cys,pathogenic
P54098:p.Ala957Pro,pathogenic
P54098:p.Ala957Ser,pathogenic
P54098:p.Ala988Ile,benign
P54098:p.Ala988Val,benign
P54098:p.Glu1007Lys,benign
P54098:p.Asn1009His,benign
P54098:p.Gly1017Asp,benign
P54098:p.Thr1032Ala,benign
P54098:p.Gln1037His,benign
P54098:p.Trp1038Arg,benign
P54098:p.Val1044Ala,benign
P54098:p.Val1044Ile,benign
P54098:p.Arg1047Gln,pathogenic
P54098:p.Gly1051Arg,pathogenic
P54098:p.Gly1076Val,pathogenic
P54098:p.Cys1078Arg,benign
P54098:p.Glu1090Gly,benign
P54098:p.Arg1096Cys,pathogenic
P54098:p.Arg1096His,pathogenic
P54098:p.Ser1104Cys,pathogenic
P54098:p.Ala1105Thr,pathogenic
P54098:p.Val1106Ile,pathogenic
P54098:p.His1110Tyr,pathogenic
P54098:p.His1134Arg,pathogenic
P54098:p.Glu1136Lys,pathogenic
P54098:p.Arg1146Cys,pathogenic
P54098:p.Ser1176Leu,pathogenic
P54098:p.Asp1184Asn,pathogenic
P54098:p.Asp1186His,pathogenic
P54098:p.Lys1191Asn,pathogenic
P41180:p.Phe3Leu,benign
P41180:p.Tyr4His,benign
P41180:p.Ser5Cys,benign
P41180:p.Cys6Tyr,benign
P41180:p.Cys7Phe,benign
P41180:p.Trp8Phe,benign
P41180:p.Trp8Gly,benign
P41180:p.Trp8Leu,benign
P41180:p.Val9Ile,benign
P41180:p.Val9Thr,benign
P41180:p.Leu10Phe,benign
P41180:p.Leu11Ser,pathogenic
P41180:p.Leu13Phe,benign
P41180:p.Leu13Ile,benign
P41180:p.Leu13Pro,pathogenic
P41180:p.Leu13Ser,benign
P41180:p.Thr14Ala,benign
P41180:p.His16Cys,benign
P41180:p.His16Leu,benign
P41180:p.His16Tyr,benign
P41180:p.Thr17Ile,benign
P41180:p.Thr17Ser,benign
P41180:p.Gly21Arg,pathogenic
P41180:p.Pro39Ala,pathogenic
P41180:p.Ala46Val,benign
P41180:p.Lys47Asn,pathogenic
P41180:p.Arg62Met,pathogenic
P41180:p.Arg66Cys,pathogenic
P41180:p.Ala86Val,benign
P41180:p.Leu91Met,benign
P41180:p.Ala116Thr,pathogenic
P41180:p.Asn118Lys,pathogenic
P41180:p.Leu125Pro,pathogenic
P41180:p.Glu127Ala,pathogenic
P41180:p.Phe128Leu,pathogenic
P41180:p.Cys131Trp,pathogenic
P41180:p.Glu133Gln,benign
P41180:p.Thr138Met,pathogenic
P41180:p.Gly143Glu,pathogenic
P41180:p.Val149Ile,benign
P41180:p.Thr151Met,pathogenic
P41180:p.Ser171Asn,pathogenic
P41180:p.Leu174Arg,pathogenic
P41180:p.Phe180Cys,pathogenic
P41180:p.Arg185Gln,pathogenic
P41180:p.Glu191Lys,pathogenic
P41180:p.Pro221Gln,pathogenic
P41180:p.Lys225Thr,pathogenic
P41180:p.Arg227Leu,pathogenic
P41180:p.Arg227Gln,pathogenic
P41180:p.Glu249Ala,benign
P41180:p.His254Gln,benign
P41180:p.Ser271Phe,pathogenic
P41180:p.Glu282Gln,benign
P41180:p.Lys291Arg,benign
P41180:p.Glu297Lys,pathogenic
P41180:p.Gln309Glu,benign
P41180:p.Gln326Lys,benign
P41180:p.Lys335Gln,benign
P41180:p.Glu354Ala,pathogenic
P41180:p.Ala364Pro,benign
P41180:p.Ala364Thr,benign
P41180:p.Ala364Val,benign
P41180:p.Pro367Ala,benign
P41180:p.Pro367Leu,benign
P41180:p.Pro369Ala,benign
P41180:p.Pro369Ser,benign
P41180:p.Val370Leu,benign
P41180:p.Val370Met,benign
P41180:p.Val370Thr,benign
P41180:p.Thr372Asn,benign
P41180:p.Leu374Met,benign
P41180:p.Gly376Ser,benign
P41180:p.His377Gln,benign
P41180:p.Glu379Asp,benign
P41180:p.Ser380Gly,benign
P41180:p.Gly381Ala,benign
P41180:p.Asp382Gly,benign
P41180:p.Asp382Asn,benign
P41180:p.Asp382Ser,benign
P41180:p.Arg383Lys,benign
P41180:p.Phe384Ile,benign
P41180:p.Phe384Leu,benign
P41180:p.Phe391Leu,benign
P41180:p.Gly397Arg,pathogenic
P41180:p.Ile409Met,benign
P41180:p.Tyr411Phe,benign
P41180:p.Leu438Ile,benign
P41180:p.Leu438Ser,benign
P41180:p.Arg441Lys,benign
P41180:p.Val460Gln,benign
P41180:p.Arg465Gln,pathogenic
P41180:p.Val486Ala,benign
P41180:p.Val486Met,benign
P41180:p.Pro498Ala,benign
P41180:p.Gly501Ser,benign
P41180:p.Val504Met,benign
P41180:p.Gly509Arg,pathogenic
P41180:p.Lys516Arg,benign
P41180:p.Lys517Arg,benign
P41180:p.Glu519Arg,benign
P41180:p.Arg520Lys,benign
P41180:p.Leu521Thr,benign
P41180:p.Phe522Leu,benign
P41180:p.Ala548Ser,benign
P41180:p.Gly553Arg,pathogenic
P41180:p.Ile555Val,pathogenic
P41180:p.Gly557Glu,pathogenic
P41180:p.Cys562Tyr,pathogenic
P41180:p.Pro569Ala,benign
P41180:p.Cys582Phe,pathogenic
P41180:p.Cys582Tyr,pathogenic
P41180:p.Asn583Asp,benign
P41180:p.Asn583Ile,benign
P41180:p.Glu604Lys,pathogenic
P41180:p.Phe612Ser,pathogenic
P41180:p.Leu616Val,pathogenic
P41180:p.Gly623Asp,pathogenic
P41180:p.Ile635Leu,benign
P41180:p.Arg638Cys,benign
P41180:p.Gly670Glu,pathogenic
P41180:p.Gly670Arg,pathogenic
P41180:p.Gln681His,pathogenic
P41180:p.Ile686Val,pathogenic
P41180:p.Val697Met,pathogenic
P41180:p.Leu703Val,benign
P41180:p.Leu727Gln,pathogenic
P41180:p.Val728Phe,pathogenic
P41180:p.Val740Ala,benign
P41180:p.Trp742Arg,pathogenic
P41180:p.Tyr744Asn,benign
P41180:p.Gln754His,benign
P41180:p.Glu767Lys,pathogenic
P41180:p.Leu773Arg,pathogenic
P41180:p.Ile786Val,benign
P41180:p.Phe788Cys,pathogenic
P41180:p.Phe788Leu,pathogenic
P41180:p.Arg795Trp,pathogenic
P41180:p.Phe806Ser,pathogenic
P41180:p.Ser820Phe,pathogenic
P41180:p.Ala843Glu,pathogenic
P41180:p.Ile857Val,benign
P41180:p.Phe881Leu,pathogenic
P41180:p.Arg886Trp,pathogenic
P41180:p.Val894Ile,benign
P41180:p.Lys897Gln,benign
P41180:p.Arg898Gln,pathogenic
P41180:p.Ser900Asn,benign
P41180:p.Thr909Leu,benign
P41180:p.Ser911Pro,benign
P41180:p.Gln926Pro,benign
P41180:p.Glu928Val,benign
P41180:p.Arg929Gly,benign
P41180:p.Gln934Pro,benign
P41180:p.Leu936Pro,benign
P41180:p.Thr939Ala,benign
P41180:p.Gln940Ser,benign
P41180:p.Glu942Ala,benign
P41180:p.Glu942Gly,benign
P41180:p.Glu942Gln,benign
P41180:p.Gln944Pro,benign
P41180:p.Gln945Arg,benign
P41180:p.Gln946Leu,benign
P41180:p.Gln946Pro,benign
P41180:p.Gln946Ser,benign
P41180:p.Pro947Ser,benign
P41180:p.Leu948Ser,benign
P41180:p.Thr949Ser,benign
P41180:p.Leu950Ile,benign
P41180:p.Pro951Gln,benign
P41180:p.Gln952Leu,benign
P41180:p.Gln952Pro,benign
P41180:p.Gln954Pro,benign
P41180:p.Arg955His,benign
P41180:p.Arg955Pro,benign
P41180:p.Arg955Gln,benign
P41180:p.Ser956Pro,benign
P41180:p.Ser956Gln,benign
P41180:p.Gln958Pro,benign
P41180:p.Pro960Gln,benign
P41180:p.Pro960Thr,benign
P41180:p.Asn985Ser,benign
P41180:p.Met987Pro,benign
P41180:p.Met987Thr,benign
P41180:p.Ala988Gly,pathogenic
P41180:p.Ala988Val,pathogenic
P41180:p.Ser992Ala,benign
P41180:p.Thr993Ala,benign
P41180:p.Thr993Ile,benign
P41180:p.Thr993Met,benign
P41180:p.Ala1000Thr,benign
P41180:p.Gln1001Leu,benign
P41180:p.Lys1002Arg,benign
P41180:p.Ser1003Asn,benign
P41180:p.Ser1004Asn,benign
P41180:p.Asp1005Glu,benign
P41180:p.Thr1006Ala,benign
P41180:p.Leu1007Met,benign
P41180:p.Thr1008Ala,benign
P41180:p.Thr1008Ser,benign
P41180:p.Gln1011Glu,benign
P41180:p.Pro1012Ala,benign
P41180:p.Cys1018Tyr,benign
P41180:p.Gly1019Arg,benign
P41180:p.Glu1020Asp,benign
P41180:p.Thr1021Ala,benign
P41180:p.Thr1021Ile,benign
P41180:p.Thr1021Val,benign
P41180:p.Leu1023Ser,benign
P41180:p.Asp1024Glu,benign
P41180:p.Thr1026Ala,benign
P41180:p.Thr1026Ser,benign
P41180:p.Val1027Ala,benign
P41180:p.Val1027Ile,benign
P41180:p.Val1027Thr,benign
P41180:p.Thr1030Arg,benign
P41180:p.Gly1031Asp,benign
P41180:p.Pro1035Ser,benign
P41180:p.Val1036Ala,benign
P41180:p.Val1036Gly,benign
P41180:p.Val1036Met,benign
P41180:p.Gly1037Ala,benign
P41180:p.Gly1037Asp,benign
P41180:p.Gly1038Ala,benign
P41180:p.Asp1039Ala,benign
P41180:p.Asp1039Gly,benign
P41180:p.Gln1040Cys,benign
P41180:p.Gln1040Phe,benign
P41180:p.Gln1040His,benign
P41180:p.Gln1040Arg,benign
P41180:p.Arg1041Gln,benign
P41180:p.Pro1042Arg,benign
P41180:p.Val1044Met,benign
P41180:p.Val1044Arg,benign
P41180:p.Val1044Thr,benign
P41180:p.Asp1046Gly,benign
P41180:p.Asp1046Val,benign
P41180:p.Pro1047Ser,benign
P41180:p.Leu1050Met,benign
P41180:p.Ser1058Asn,benign
P41180:p.Gln1060Arg,benign
P41180:p.Gly1066Ser,benign
P41180:p.Val1075Ile,benign
P41180:p.Val1075Met,benign
P41180:p.Val1076Leu,benign
P41180:p.Asn1077His,benign
P41180:p.Asn1077Arg,benign
P41180:p.Ser1078Leu,benign
P07949:p.Met1Ala,benign
P07949:p.Met1Lys,benign
P07949:p.Ala2Lys,benign
P07949:p.Ala2Thr,benign
P07949:p.Lys3Ala,benign
P07949:p.Lys3Ser,benign
P07949:p.Lys3Thr,benign
P07949:p.Ala4Gly,benign
P07949:p.Ala4Ser,benign
P07949:p.Ala4Thr,benign
P07949:p.Thr5Ala,benign
P07949:p.Thr5Gly,benign
P07949:p.Thr5Ser,benign
P07949:p.Ser6Ala,benign
P07949:p.Ser6Gly,benign
P07949:p.Gly7Ala,benign
P07949:p.Gly7Met,benign
P07949:p.Ala8Gly,benign
P07949:p.Ala8Leu,benign
P07949:p.Ala9Gly,benign
P07949:p.Ala9Leu,benign
P07949:p.Ala9Arg,benign
P07949:p.Ala9Thr,benign
P07949:p.Gly10Leu,benign
P07949:p.Gly10Gln,benign
P07949:p.Gly10Arg,benign
P07949:p.Leu11Gly,benign
P07949:p.Leu11Arg,benign
P07949:p.Arg12Leu,benign
P07949:p.Leu13Pro,benign
P07949:p.Leu15Ser,benign
P07949:p.Leu17Thr,benign
P07949:p.Leu19Asn,benign
P07949:p.Pro20Leu,pathogenic
P07949:p.Leu21Asp,benign
P07949:p.Leu22Ser,benign
P07949:p.Gly23Lys,benign
P07949:p.Lys24Asn,benign
P07949:p.Val25Gly,benign
P07949:p.Val25Leu,benign
P07949:p.Ser32Leu,pathogenic
P07949:p.Leu40Pro,pathogenic
P07949:p.Ala45Pro,benign
P07949:p.Arg57Gln,benign
P07949:p.Ala59Thr,benign
P07949:p.Pro64Leu,pathogenic
P07949:p.Arg67His,pathogenic
P07949:p.Arg77Cys,pathogenic
P07949:p.His103Arg,benign
P07949:p.Ser104Asn,benign
P07949:p.Ser110Gly,benign
P07949:p.Val111Gly,benign
P07949:p.Val111Arg,benign
P07949:p.Arg112Asn,benign
P07949:p.Arg114Cys,pathogenic
P07949:p.Arg114His,pathogenic
P07949:p.Ser131Phe,benign
P07949:p.Arg133Gly,benign
P07949:p.Gly135Ser,benign
P07949:p.Cys142Ser,pathogenic
P07949:p.Val145Gly,pathogenic
P07949:p.Pro155Leu,pathogenic
P07949:p.Ser158Thr,benign
P07949:p.Arg163Gln,benign
P07949:p.Phe174Ser,pathogenic
P07949:p.Arg175Pro,pathogenic
P07949:p.Arg180Pro,pathogenic
P07949:p.Phe195Tyr,benign
P07949:p.Cys197Tyr,pathogenic
P07949:p.Arg231His,pathogenic
P07949:p.Gly248Ser,benign
P07949:p.Glu251Lys,pathogenic
P07949:p.Thr278Ala,pathogenic
P07949:p.Thr278Pro,pathogenic
P07949:p.Arg287Gln,pathogenic
P07949:p.Val292Met,benign
P07949:p.Asp300Asn,pathogenic
P07949:p.Arg313Gln,pathogenic
P07949:p.Ser316Ile,pathogenic
P07949:p.Ala325Thr,benign
P07949:p.Arg330Gln,pathogenic
P07949:p.Ser339Leu,pathogenic
P07949:p.Asp353Tyr,pathogenic
P07949:p.Arg360Gln,pathogenic
P07949:p.Arg360Trp,pathogenic
P07949:p.Phe393Leu,pathogenic
P07949:p.Asn394Lys,pathogenic
P07949:p.Val397Met,pathogenic
P07949:p.Pro399Leu,pathogenic
P07949:p.Thr407Ser,benign
P07949:p.Leu410Val,benign
P07949:p.Val412Met,pathogenic
P07949:p.Gly423Arg,pathogenic
P07949:p.Ala432Glu,pathogenic
P07949:p.Ala432Val,benign
P07949:p.Lys441Glu,benign
P07949:p.Gly446Ser,benign
P07949:p.Ala447Thr,benign
P07949:p.Thr451Met,benign
P07949:p.Arg475Gln,pathogenic
P07949:p.Glu480Lys,pathogenic
P07949:p.Asp489Asn,benign
P07949:p.Gln490His,benign
P07949:p.Ala498Thr,benign
P07949:p.Thr503Met,benign
P07949:p.Ser507Leu,benign
P07949:p.Ser507Val,benign
P07949:p.Tyr508His,benign
P07949:p.Leu526Pro,benign
P07949:p.Ser561Gly,benign
P07949:p.Glu595Gln,pathogenic
P07949:p.Cys609Gly,pathogenic
P07949:p.Cys609Arg,pathogenic
P07949:p.Cys609Trp,pathogenic
P07949:p.Cys609Tyr,pathogenic
P07949:p.Cys611Gly,pathogenic
P07949:p.Cys611Arg,pathogenic
P07949:p.Cys611Ser,pathogenic
P07949:p.Cys611Trp,pathogenic
P07949:p.Cys611Tyr,pathogenic
P07949:p.Cys618Phe,pathogenic
P07949:p.Cys618Gly,pathogenic
P07949:p.Cys618Arg,pathogenic
P07949:p.Cys618Ser,pathogenic
P07949:p.Cys618Tyr,pathogenic
P07949:p.Cys620Phe,pathogenic
P07949:p.Cys620Gly,pathogenic
P07949:p.Cys620Arg,pathogenic
P07949:p.Cys620Ser,pathogenic
P07949:p.Cys620Trp,pathogenic
P07949:p.Cys620Tyr,pathogenic
P07949:p.Gln626Lys,pathogenic
P07949:p.Cys630Phe,pathogenic
P07949:p.Cys630Ser,pathogenic
P07949:p.Cys630Tyr,pathogenic
P07949:p.Cys634Phe,pathogenic
P07949:p.Cys634Gly,pathogenic
P07949:p.Cys634Arg,pathogenic
P07949:p.Cys634Ser,pathogenic
P07949:p.Cys634Trp,pathogenic
P07949:p.Cys634Tyr,pathogenic
P07949:p.Ala639Gly,pathogenic
P07949:p.Ala640Gly,pathogenic
P07949:p.Ala641Gly,pathogenic
P07949:p.Cys659Arg,benign
P07949:p.Ser670Pro,benign
P07949:p.Pro679Leu,pathogenic
P07949:p.Ala680Thr,benign
P07949:p.Ser690Pro,pathogenic
P07949:p.Ala692Thr,benign
P07949:p.Arg694Gln,pathogenic
P07949:p.Leu712Pro,benign
P07949:p.His745Arg,benign
P07949:p.Glu762Gln,pathogenic
P07949:p.Ser765Pro,pathogenic
P07949:p.Ser767Arg,pathogenic
P07949:p.Glu768Asp,pathogenic
P07949:p.Val778Leu,benign
P07949:p.Asn783Ser,pathogenic
P07949:p.Leu790Phe,pathogenic
P07949:p.Tyr791Phe,pathogenic
P07949:p.Val804Leu,pathogenic
P07949:p.Val804Met,pathogenic
P07949:p.Arg813Gln,pathogenic
P07949:p.Gly830Arg,pathogenic
P07949:p.His840Asp,benign
P07949:p.Arg844Leu,pathogenic
P07949:p.Gln860Arg,benign
P07949:p.Arg873Gln,pathogenic
P07949:p.Ala883Phe,pathogenic
P07949:p.Ser891Ala,pathogenic
P07949:p.Phe893Leu,pathogenic
P07949:p.Arg897Gln,pathogenic
P07949:p.Lys907Glu,pathogenic
P07949:p.Lys907Thr,pathogenic
P07949:p.Gln910Lys,benign
P07949:p.Met918Thr,pathogenic
P07949:p.Glu921Lys,pathogenic
P07949:p.Ser922Phe,pathogenic
P07949:p.Thr946Met,pathogenic
P07949:p.Phe961Leu,pathogenic
P07949:p.Arg972Gly,pathogenic
P07949:p.Pro973Leu,pathogenic
P07949:p.Met980Thr,pathogenic
P07949:p.Arg982Cys,benign
P07949:p.Arg1012Ser,benign
P07949:p.Ile1028Leu,benign
P07949:p.Pro1039Leu,pathogenic
P07949:p.Leu1052Val,pathogenic
P07949:p.Leu1061Pro,pathogenic
P07949:p.Tyr1062Cys,pathogenic
P07949:p.Met1064Thr,pathogenic
P07949:p.Pro1091Ala,benign
P06280:p.Gln2Met,benign
P06280:p.Gln2Arg,benign
P06280:p.Leu3Gln,benign
P06280:p.Arg4Leu,benign
P06280:p.Arg4Ser,benign
P06280:p.Asn5Arg,benign
P06280:p.Pro6Asn,benign
P06280:p.Glu7Gly,benign
P06280:p.Glu7His,benign
P06280:p.Glu7Arg,benign
P06280:p.Leu8Met,benign
P06280:p.His9Gln,benign
P06280:p.His9Tyr,benign
P06280:p.Gly11Ala,benign
P06280:p.Cys12Leu,benign
P06280:p.Ala13Leu,benign
P06280:p.Arg17Leu,benign
P06280:p.Ala20Pro,pathogenic
P06280:p.Val22Phe,benign
P06280:p.Pro27Phe,benign
P06280:p.Gly28Val,benign
P06280:p.Gly28Trp,benign
P06280:p.Ala31Val,pathogenic
P06280:p.Leu32Pro,pathogenic
P06280:p.Asn34Ser,pathogenic
P06280:p.Gly35Arg,pathogenic
P06280:p.Thr39Met,benign
P06280:p.Pro40Leu,pathogenic
P06280:p.Pro40Ser,pathogenic
P06280:p.Met42Leu,pathogenic
P06280:p.Met42Val,pathogenic
P06280:p.Gly43Arg,pathogenic
P06280:p.His46Pro,pathogenic
P06280:p.His46Arg,pathogenic
P06280:p.His46Tyr,pathogenic
P06280:p.Trp47Gly,pathogenic
P06280:p.Arg49Leu,pathogenic
P06280:p.Arg49Pro,pathogenic
P06280:p.Arg49Ser,pathogenic
P06280:p.Cys52Arg,pathogenic
P06280:p.Cys52Ser,pathogenic
P06280:p.Cys56Phe,pathogenic
P06280:p.Cys56Gly,pathogenic
P06280:p.Cys56Tyr,pathogenic
P06280:p.Glu59Lys,pathogenic
P06280:p.Ser65Thr,pathogenic
P06280:p.Glu66Gln,pathogenic
P06280:p.Met70Val,benign
P06280:p.Met72Val,pathogenic
P06280:p.Met76Leu,benign
P06280:p.Glu79Asp,benign
P06280:p.Gly85Asp,pathogenic
P06280:p.Tyr86Cys,pathogenic
P06280:p.Glu87Asp,benign
P06280:p.Leu89Pro,pathogenic
P06280:p.Leu89Arg,pathogenic
P06280:p.Ile91Thr,pathogenic
P06280:p.Asp92His,pathogenic
P06280:p.Asp92Tyr,pathogenic
P06280:p.Asp93Gly,pathogenic
P06280:p.Asp93Asn,pathogenic
P06280:p.Cys94Ser,pathogenic
P06280:p.Cys94Tyr,pathogenic
P06280:p.Trp95Ser,pathogenic
P06280:p.Ala97Val,pathogenic
P06280:p.Arg100Lys,pathogenic
P06280:p.Arg100Thr,pathogenic
P06280:p.Ser102Leu,benign
P06280:p.Gln107Lys,benign
P06280:p.Arg112Cys,pathogenic
P06280:p.Arg112His,pathogenic
P06280:p.Arg112Ser,pathogenic
P06280:p.Phe113Leu,pathogenic
P06280:p.Phe113Ser,pathogenic
P06280:p.His115Arg,benign
P06280:p.Ile117Val,benign
P06280:p.Leu120Val,pathogenic
P06280:p.Gly128Glu,pathogenic
P06280:p.Leu131Pro,pathogenic
P06280:p.Tyr134Ser,pathogenic
P06280:p.Ala135Val,pathogenic
P06280:p.Gly138Arg,pathogenic
P06280:p.Cys142Arg,pathogenic
P06280:p.Cys142Tyr,pathogenic
P06280:p.Ala143Pro,pathogenic
P06280:p.Ala143Ser,benign
P06280:p.Ala143Thr,pathogenic
P06280:p.Gly144Val,pathogenic
P06280:p.Pro146Ser,pathogenic
P06280:p.Ser148Asn,pathogenic
P06280:p.Ser148Arg,pathogenic
P06280:p.Ala156Thr,pathogenic
P06280:p.Ala156Val,pathogenic
P06280:p.Trp162Cys,pathogenic
P06280:p.Trp162Arg,pathogenic
P06280:p.Gly163Val,pathogenic
P06280:p.Asp165Val,pathogenic
P06280:p.Leu166Val,pathogenic
P06280:p.Asp170Val,pathogenic
P06280:p.Gly171Asp,pathogenic
P06280:p.Cys172Arg,pathogenic
P06280:p.Cys172Tyr,pathogenic
P06280:p.Tyr173His,benign
P06280:p.Asn179Lys,benign
P06280:p.Asn179Ser,benign
P06280:p.Gly183Asp,pathogenic
P06280:p.Met187Val,pathogenic
P06280:p.Ser201Phe,pathogenic
P06280:p.Cys202Trp,pathogenic
P06280:p.Cys202Tyr,pathogenic
P06280:p.Pro205Thr,pathogenic
P06280:p.Asn215Ser,pathogenic
P06280:p.Tyr216Asp,pathogenic
P06280:p.Ile219Asn,pathogenic
P06280:p.Ile219Thr,pathogenic
P06280:p.Cys223Gly,pathogenic
P06280:p.Asn224Asp,pathogenic
P06280:p.Asn224Ser,pathogenic
P06280:p.Trp226Arg,pathogenic
P06280:p.Arg227Gln,pathogenic
P06280:p.Phe229Tyr,benign
P06280:p.Ala230Thr,pathogenic
P06280:p.Asp231Asn,pathogenic
P06280:p.Ile232Val,benign
P06280:p.Asp234Glu,pathogenic
P06280:p.Ser235Cys,pathogenic
P06280:p.Trp236Cys,pathogenic
P06280:p.Trp236Leu,pathogenic
P06280:p.Ile242Asn,pathogenic
P06280:p.Asp244His,pathogenic
P06280:p.Asp244Asn,pathogenic
P06280:p.Phe248Ser,benign
P06280:p.Asn249Tyr,benign
P06280:p.Gly258Arg,pathogenic
P06280:p.Pro259Leu,pathogenic
P06280:p.Pro259Arg,pathogenic
P06280:p.Gly260Ala,pathogenic
P06280:p.Gly261Asp,pathogenic
P06280:p.Asn263Ser,pathogenic
P06280:p.Asp264Val,pathogenic
P06280:p.Asp264Tyr,pathogenic
P06280:p.Pro265Arg,pathogenic
P06280:p.Asp266His,pathogenic
P06280:p.Asp266Asn,pathogenic
P06280:p.Asp266Val,pathogenic
P06280:p.Met267Ile,pathogenic
P06280:p.Val269Ala,pathogenic
P06280:p.Asn272Lys,pathogenic
P06280:p.Asn272Ser,pathogenic
P06280:p.Ser276Gly,pathogenic
P06280:p.Gln279Glu,pathogenic
P06280:p.Gln279His,pathogenic
P06280:p.Gln280His,pathogenic
P06280:p.Met284Thr,pathogenic
P06280:p.Ala285Pro,pathogenic
P06280:p.Trp287Cys,pathogenic
P06280:p.Trp287Gly,pathogenic
P06280:p.Ala288Asp,pathogenic
P06280:p.Ile289Phe,pathogenic
P06280:p.Met296Ile,pathogenic
P06280:p.Met296Val,pathogenic
P06280:p.Ser297Phe,pathogenic
P06280:p.Asn298His,pathogenic
P06280:p.Asn298Lys,pathogenic
P06280:p.Asn298Ser,pathogenic
P06280:p.Leu300Phe,pathogenic
P06280:p.Arg301Gln,pathogenic
P06280:p.Ser304Arg,benign
P06280:p.Asp313Tyr,pathogenic
P06280:p.Val316Glu,pathogenic
P06280:p.Asn320Lys,pathogenic
P06280:p.Asn320Tyr,pathogenic
P06280:p.Gln321Glu,pathogenic
P06280:p.Gln327Lys,pathogenic
P06280:p.Gly328Ala,pathogenic
P06280:p.Gly328Arg,pathogenic
P06280:p.Gly328Val,pathogenic
P06280:p.Gly334Ala,benign
P06280:p.Glu338Lys,pathogenic
P06280:p.Trp340Arg,pathogenic
P06280:p.Glu341Lys,pathogenic
P06280:p.Arg342Gln,pathogenic
P06280:p.Gly346Asp,benign
P06280:p.Met353Val,benign
P06280:p.Arg356Gln,pathogenic
P06280:p.Arg356Trp,pathogenic
P06280:p.Glu358Ala,pathogenic
P06280:p.Glu358Lys,pathogenic
P06280:p.Gly360Cys,pathogenic
P06280:p.Gly361Arg,pathogenic
P06280:p.Arg363His,pathogenic
P06280:p.Ile367Met,benign
P06280:p.Val369Leu,benign
P06280:p.Gly373Asp,pathogenic
P06280:p.Gly373Ser,pathogenic
P06280:p.Ala377Asp,pathogenic
P06280:p.Cys378Tyr,pathogenic
P06280:p.Leu387His,benign
P06280:p.Lys391Asn,benign
P06280:p.Ser401Thr,benign
P06280:p.Ser405Thr,benign
P06280:p.Pro409Ala,pathogenic
P06280:p.Pro409Thr,pathogenic
P06280:p.Thr410Ala,pathogenic
P06280:p.Leu414Ser,pathogenic
P06280:p.Gln416Arg,benign
P06280:p.Asn419Ser,benign
P06280:p.Met421Val,benign
P06280:p.Met423Arg,benign
P06280:p.Leu425Ile,benign
P06280:p.Lys426His,benign
P06280:p.Lys426Gln,benign
P06280:p.Leu429Phe,benign
O95255:p.Gln11Glu,benign
O95255:p.Pro21Ser,benign
O95255:p.Gln96Arg,benign
O95255:p.Pro99Ser,benign
O95255:p.Thr113Ile,benign
O95255:p.Gly129Glu,pathogenic
O95255:p.Leu146Phe,benign
O95255:p.Asn150Ser,benign
O95255:p.Asn201Asp,benign
O95255:p.Pro202Ala,benign
O95255:p.Pro202Thr,benign
O95255:p.Cys203Gln,benign
O95255:p.Pro204Gln,benign
O95255:p.Glu205Ser,benign
O95255:p.Thr206Ala,benign
O95255:p.Gly207Asn,benign
O95255:p.Ala208Val,benign
O95255:p.Ala209Cys,benign
O95255:p.Ala209Ser,benign
O95255:p.Ser212Cys,benign
O95255:p.Lys213Gln,benign
O95255:p.Ala214Asp,benign
O95255:p.Thr215Cys,benign
O95255:p.Thr215Met,benign
O95255:p.Trp217Ile,benign
O95255:p.Trp218Phe,benign
O95255:p.Val219Ile,benign
O95255:p.Ser220Gln,benign
O95255:p.Arg241Lys,benign
O95255:p.Arg241Ser,benign
O95255:p.Glu246Asp,benign
O95255:p.Arg251Gln,benign
O95255:p.Glu255Ala,benign
O95255:p.Ala262Thr,benign
O95255:p.Arg264Gly,benign
O95255:p.Asn267Thr,benign
O95255:p.Ile270Thr,benign
O95255:p.Ala271Thr,benign
O95255:p.Gly277Ser,benign
O95255:p.Gly279Asp,benign
O95255:p.Lys281Glu,benign
O95255:p.Glu284Asp,benign
O95255:p.Arg290Trp,benign
O95255:p.Arg297Gly,benign
O95255:p.Arg297Trp,benign
O95255:p.Ser317Arg,pathogenic
O95255:p.Ile319Val,benign
O95255:p.Leu355Arg,pathogenic
O95255:p.Thr364Arg,pathogenic
O95255:p.Asn370Asp,pathogenic
O95255:p.Arg382Trp,pathogenic
O95255:p.Arg391Gly,pathogenic
O95255:p.Lys392Asn,pathogenic
O95255:p.Ser398Gly,pathogenic
O95255:p.Asn411Lys,pathogenic
O95255:p.Val424Ile,benign
O95255:p.Leu425Ile,benign
O95255:p.Cys440Gly,pathogenic
O95255:p.Ala455Pro,pathogenic
O95255:p.Leu463His,pathogenic
O95255:p.Ser470Thr,benign
O95255:p.Glu479Lys,benign
O95255:p.Ser486Leu,benign
O95255:p.Leu495His,pathogenic
O95255:p.Arg518Gln,pathogenic
O95255:p.Ser535Pro,pathogenic
O95255:p.Phe551Ser,pathogenic
O95255:p.Asn563Asp,benign
O95255:p.Phe568Ser,pathogenic
O95255:p.Ser590Phe,pathogenic
O95255:p.Ala594Val,pathogenic
O95255:p.Arg600Cys,pathogenic
O95255:p.Thr603Ala,benign
O95255:p.Gly613Asp,benign
O95255:p.Val614Ala,benign
O95255:p.Ser622Gly,benign
O95255:p.Ala623Ser,benign
O95255:p.Gly625Ser,benign
O95255:p.His632Arg,benign
O95255:p.Ser633Asn,benign
O95255:p.Ala637Thr,benign
O95255:p.Pro644Ala,benign
O95255:p.Gly663Cys,pathogenic
O95255:p.Leu673Pro,pathogenic
O95255:p.Leu677Pro,pathogenic
O95255:p.Glu684Asp,benign
O95255:p.Val687Met,benign
O95255:p.Glu690Lys,benign
O95255:p.Gln698Pro,pathogenic
O95255:p.Glu699Asp,pathogenic
O95255:p.Ala700Thr,benign
O95255:p.Thr705Ala,benign
O95255:p.Glu709Gln,benign
O95255:p.Asp718Glu,benign
O95255:p.Pro720Ala,benign
O95255:p.Leu726Pro,pathogenic
O95255:p.Gln732Arg,benign
O95255:p.Ile742Val,benign
O95255:p.Ile746Thr,benign
O95255:p.Met751Lys,pathogenic
O95255:p.Gly755Arg,pathogenic
O95255:p.Arg760Trp,pathogenic
O95255:p.Arg765Gln,pathogenic
O95255:p.Ala766Asp,pathogenic
O95255:p.Asp777Asn,pathogenic
O95255:p.Arg807Gln,pathogenic
O95255:p.Arg807Trp,pathogenic
O95255:p.Val810Met,pathogenic
O95255:p.Thr811Met,pathogenic
O95255:p.Ala820Pro,pathogenic
O95255:p.Ile824Val,benign
O95255:p.Asn828Asp,benign
O95255:p.Met848Val,benign
O95255:p.Cys849Gly,benign
O95255:p.Arg860Thr,benign
O95255:p.Thr877Ser,benign
O95255:p.Arg881Ser,pathogenic
O95255:p.Leu885Arg,benign
O95255:p.Arg887Pro,benign
O95255:p.Arg899Cys,benign
O95255:p.Arg899His,benign
O95255:p.Val908Leu,benign
O95255:p.Pro919Ala,benign
O95255:p.Ala920Thr,benign
O95255:p.Ile925Met,benign
O95255:p.Ile925Thr,benign
O95255:p.Thr944Ile,pathogenic
O95255:p.Ala950Thr,pathogenic
O95255:p.Ala976Thr,benign
O95255:p.Gly992Arg,pathogenic
O95255:p.Ala1014Val,benign
O95255:p.His1043Asn,benign
O95255:p.Asp1056Glu,pathogenic
O95255:p.Pro1060Ala,benign
O95255:p.Ala1083Thr,benign
O95255:p.Thr1088Ile,benign
O95255:p.Arg1114Cys,pathogenic
O95255:p.Arg1114Pro,pathogenic
O95255:p.Ser1121Leu,pathogenic
O95255:p.Ser1121Trp,pathogenic
O95255:p.Thr1130Met,pathogenic
O95255:p.Gly1133Ala,pathogenic
O95255:p.Arg1138Pro,pathogenic
O95255:p.Arg1138Gln,pathogenic
O95255:p.Arg1138Trp,pathogenic
O95255:p.Ala1139Thr,pathogenic
O95255:p.Pro1145Leu,benign
O95255:p.Arg1164Gln,pathogenic
O95255:p.Gly1203Asp,pathogenic
O95255:p.Arg1221Cys,pathogenic
O95255:p.Arg1221His,pathogenic
O95255:p.Leu1226Ile,pathogenic
O95255:p.Arg1235Trp,pathogenic
O95255:p.Asp1238His,pathogenic
O95255:p.Gln1261His,benign
O95255:p.Arg1268Gln,benign
O95255:p.Val1298Phe,pathogenic
O95255:p.Thr1301Ile,pathogenic
O95255:p.Gly1302Arg,pathogenic
O95255:p.Ala1303Pro,pathogenic
O95255:p.Arg1314Gln,pathogenic
O95255:p.Arg1314Trp,pathogenic
O95255:p.Gly1321Ser,pathogenic
O95255:p.Leu1335Pro,pathogenic
O95255:p.Leu1335Gln,pathogenic
O95255:p.Arg1339Cys,pathogenic
O95255:p.Arg1339His,pathogenic
O95255:p.Arg1339Leu,pathogenic
O95255:p.Ile1344Val,benign
O95255:p.Pro1346Ser,pathogenic
O95255:p.Gln1347His,pathogenic
O95255:p.Gly1354Arg,pathogenic
O95255:p.Arg1357Trp,pathogenic
O95255:p.Asp1361Asn,pathogenic
O95255:p.Glu1400Lys,pathogenic
O95255:p.Gln1406Lys,pathogenic
O95255:p.Ile1424Thr,pathogenic
O95255:p.Met1443Thr,benign
O95255:p.Arg1459Cys,pathogenic
O15537:p.Ser2Pro,benign
O15537:p.Ser2Gln,benign
O15537:p.Ser2Thr,benign
O15537:p.Arg3Gly,benign
O15537:p.Arg3His,benign
O15537:p.Ile5Val,benign
O15537:p.Glu6Gly,benign
O15537:p.Glu6Lys,benign
O15537:p.Gly7Asn,benign
O15537:p.Leu9Phe,benign
O15537:p.Leu10Phe,benign
O15537:p.Leu10Val,benign
O15537:p.Leu12His,pathogenic
O15537:p.Leu13Pro,pathogenic
O15537:p.Tyr16Ser,benign
O15537:p.Thr19Ile,benign
O15537:p.Gly29Ser,benign
O15537:p.Gly29Val,benign
O15537:p.Glu30Asp,benign
O15537:p.Gln35His,benign
O15537:p.Gln35Asn,benign
O15537:p.Ala37Thr,benign
O15537:p.Ala37Val,benign
O15537:p.Asp41Asn,benign
O15537:p.Gly44Val,benign
O15537:p.Gly45Ser,benign
O15537:p.Pro46Ala,benign
O15537:p.Pro46Thr,benign
O15537:p.Asn47Ser,benign
O15537:p.Ala48Gly,benign
O15537:p.Ala48Thr,benign
O15537:p.Ser51Asn,benign
O15537:p.Ala52Thr,benign
O15537:p.Ala52Val,benign
O15537:p.Gly53Arg,benign
O15537:p.Gly53Ser,benign
O15537:p.Ala54Pro,benign
O15537:p.Ala54Ser,benign
O15537:p.Ala54Thr,benign
O15537:p.Ala54Val,benign
O15537:p.Thr55Ala,benign
O15537:p.Ser56Pro,benign
O15537:p.Cys59Ser,pathogenic
O15537:p.Ile60Val,benign
O15537:p.Tyr65Cys,pathogenic
O15537:p.Gly70Ala,pathogenic
O15537:p.Gly70Ser,pathogenic
O15537:p.Glu72Asp,pathogenic
O15537:p.Glu72Lys,pathogenic
O15537:p.Ser73Pro,pathogenic
O15537:p.Gly74Val,pathogenic
O15537:p.Asp79Glu,benign
O15537:p.Asn85Ser,benign
O15537:p.Pro86Leu,benign
O15537:p.Pro86Val,benign
O15537:p.Glu87Asp,benign
O15537:p.Tyr89Cys,pathogenic
O15537:p.Trp96Arg,pathogenic
O15537:p.Ala98Glu,pathogenic
O15537:p.Arg102Gln,pathogenic
O15537:p.Arg102Trp,pathogenic
O15537:p.Leu103Arg,pathogenic
O15537:p.Phe108Cys,pathogenic
O15537:p.Gly109Glu,pathogenic
O15537:p.Gly109Arg,pathogenic
O15537:p.Gly109Trp,pathogenic
O15537:p.Cys110Tyr,pathogenic
O15537:p.Trp112Cys,pathogenic
O15537:p.Leu113Phe,pathogenic
O15537:p.Phe116Tyr,benign
O15537:p.Ser119Asn,benign
O15537:p.Gln124Glu,benign
O15537:p.Leu127Pro,pathogenic
O15537:p.Ile130Val,benign
O15537:p.Gly135Val,pathogenic
O15537:p.Ile136Thr,pathogenic
O15537:p.Thr138Ala,pathogenic
O15537:p.Gly140Glu,pathogenic
O15537:p.Gly140Arg,pathogenic
O15537:p.Arg141Cys,pathogenic
O15537:p.Arg141Gly,pathogenic
O15537:p.Arg141His,pathogenic
O15537:p.Cys142Trp,pathogenic
O15537:p.Asp143Val,pathogenic
O15537:p.Asp145His,pathogenic
O15537:p.Glu146Asp,pathogenic
O15537:p.Glu146Lys,pathogenic
O15537:p.Met148Val,benign
O15537:p.Tyr155Cys,pathogenic
O15537:p.Arg156Gly,pathogenic
O15537:p.Thr157Ser,benign
O15537:p.Arg160His,benign
O15537:p.Arg160Asn,benign
O15537:p.Arg160Ser,benign
O15537:p.Trp163Cys,pathogenic
O15537:p.Ile164Val,benign
O15537:p.Gly178Asp,pathogenic
O15537:p.Arg182Cys,pathogenic
O15537:p.Arg182His,benign
O15537:p.Thr183Ser,benign
O15537:p.Pro192Leu,pathogenic
O15537:p.Pro192Arg,pathogenic
O15537:p.Pro192Ser,pathogenic
O15537:p.Pro193Leu,pathogenic
O15537:p.Pro193Ser,pathogenic
O15537:p.Arg197Cys,pathogenic
O15537:p.Arg197His,pathogenic
O15537:p.Ile199Thr,pathogenic
O15537:p.Arg200Cys,pathogenic
O15537:p.Arg200His,pathogenic
O15537:p.Ile202Val,benign
O15537:p.Pro203Leu,pathogenic
O15537:p.His207Gln,pathogenic
O15537:p.Arg209Cys,pathogenic
O15537:p.Arg209His,pathogenic
O15537:p.Arg213Gln,pathogenic
O15537:p.Arg213Trp,pathogenic
O15537:p.Glu215Lys,pathogenic
O15537:p.Glu215Gln,pathogenic
O15537:p.Leu216Pro,pathogenic
O15537:p.Cys219Gly,pathogenic
O15537:p.Cys219Arg,pathogenic
O15537:p.Val220Ala,benign
O15537:p.Ser221Gly,benign
O15537:p.Cys223Arg,pathogenic
O15537:p.Ala224Pro,benign
O15537:p.Ala224Thr,benign
Q16281:p.His10Gln,benign
Q16281:p.Pro11Ser,benign
Q16281:p.Lys17Arg,benign
Q16281:p.Thr20Pro,benign
Q16281:p.Asn26Asp,benign
Q16281:p.Arg27Cys,benign
Q16281:p.Arg27His,benign
Q16281:p.Ala35Thr,benign
Q16281:p.Ser38Pro,benign
Q16281:p.Ser39Cys,benign
Q16281:p.Ser39Asn,benign
Q16281:p.Glu41Thr,benign
Q16281:p.Thr42Ser,benign
Q16281:p.Val45Ala,benign
Q16281:p.Arg55Thr,benign
Q16281:p.Ser60Pro,benign
Q16281:p.Gly61Arg,benign
Q16281:p.Phe65Leu,benign
Q16281:p.Gly69Glu,benign
Q16281:p.Ile70Leu,benign
Q16281:p.Ala71Thr,benign
Q16281:p.Arg75His,benign
Q16281:p.Ile77Thr,benign
Q16281:p.Ile77Val,benign
Q16281:p.Ala85Val,benign
Q16281:p.His87Asp,benign
Q16281:p.His90Tyr,benign
Q16281:p.Gln93His,benign
Q16281:p.Pro95Leu,benign
Q16281:p.Asp96Asn,benign
Q16281:p.Ser97Tyr,benign
Q16281:p.Phe98Val,benign
Q16281:p.Arg101Cys,benign
Q16281:p.Arg103His,benign
Q16281:p.Ala105Gly,benign
Q16281:p.Glu106Lys,benign
Q16281:p.Ala117Thr,benign
Q16281:p.Ser132Arg,benign
Q16281:p.Ala133Gly,benign
Q16281:p.Ala133Thr,benign
Q16281:p.Cys139Arg,benign
Q16281:p.Glu150Arg,benign
Q16281:p.Asp157Glu,benign
Q16281:p.Asp162Val,pathogenic
Q16281:p.Pro163Leu,pathogenic
Q16281:p.Trp171Cys,pathogenic
Q16281:p.Ala174Val,benign
Q16281:p.Tyr181Cys,pathogenic
Q16281:p.Asn182Tyr,pathogenic
Q16281:p.Tyr184Cys,benign
Q16281:p.Leu186Phe,pathogenic
Q16281:p.Cys191Tyr,pathogenic
Q16281:p.Glu194Lys,pathogenic
Q16281:p.Val205Leu,benign
Q16281:p.Val212Ile,benign
Q16281:p.Val215Ala,benign
Q16281:p.Val218Ala,benign
Q16281:p.Arg223Gln,pathogenic
Q16281:p.Arg223Trp,pathogenic
Q16281:p.Thr224Ile,pathogenic
Q16281:p.Thr224Arg,pathogenic
Q16281:p.Glu228Lys,pathogenic
Q16281:p.Phe249Ser,pathogenic
Q16281:p.Pro258Arg,pathogenic
Q16281:p.Asp260Asn,pathogenic
Q16281:p.Tyr263Asp,pathogenic
Q16281:p.Val266Met,benign
Q16281:p.Gly267Asp,pathogenic
Q16281:p.Thr268Ile,benign
Q16281:p.Thr268Met,benign
Q16281:p.Val273Leu,benign
Q16281:p.Arg274Lys,pathogenic
Q16281:p.Arg277Cys,pathogenic
Q16281:p.Arg277His,pathogenic
Q16281:p.Leu278Pro,pathogenic
Q16281:p.Arg283Gln,pathogenic
Q16281:p.Arg283Trp,pathogenic
Q16281:p.Thr291Arg,pathogenic
Q16281:p.Phe322Ser,pathogenic
Q16281:p.Phe330Ser,pathogenic
Q16281:p.Ser334Phe,pathogenic
Q16281:p.Ser341Pro,pathogenic
Q16281:p.Thr369Ser,pathogenic
Q16281:p.Pro372Ser,pathogenic
Q16281:p.Phe380Ser,pathogenic
Q16281:p.Val383Ile,benign
Q16281:p.Val383Leu,benign
Q16281:p.Ser401Pro,pathogenic
Q16281:p.Met406Thr,pathogenic
Q16281:p.Arg410Trp,pathogenic
Q16281:p.Arg427Cys,pathogenic
Q16281:p.Arg436Gln,pathogenic
Q16281:p.Arg436Trp,pathogenic
Q16281:p.Arg439Trp,pathogenic
Q16281:p.Ala469Thr,pathogenic
Q16281:p.Asn471Ser,pathogenic
Q16281:p.Lys478Arg,benign
Q16281:p.Asp485Val,pathogenic
Q16281:p.Cys510Ser,pathogenic
Q16281:p.Gly513Glu,pathogenic
Q16281:p.Gly516Glu,pathogenic
Q16281:p.Ile522Thr,pathogenic
Q16281:p.Gly525Asp,pathogenic
Q16281:p.Val529Met,pathogenic
Q16281:p.Asp533His,pathogenic
Q16281:p.Phe547Leu,pathogenic
Q16281:p.Gly548Arg,pathogenic
Q16281:p.Gly557Arg,pathogenic
Q16281:p.Arg563His,pathogenic
Q16281:p.Thr565Met,pathogenic
Q16281:p.Arg569His,pathogenic
Q16281:p.Ser570Asn,pathogenic
Q16281:p.Tyr573Cys,pathogenic
Q16281:p.Glu590Lys,pathogenic
Q16281:p.Glu593Lys,pathogenic
Q16281:p.Lys675Asn,benign
Q16281:p.Gly684Arg,benign
P50336:p.Gly11Asp,pathogenic
P50336:p.Gly11Ser,pathogenic
P50336:p.Ile12Thr,pathogenic
P50336:p.Ile12Val,benign
P50336:p.Leu15Phe,pathogenic
P50336:p.Ala16Ser,benign
P50336:p.His20Pro,pathogenic
P50336:p.Glu34Val,pathogenic
P50336:p.Ser35Gly,benign
P50336:p.Ser36Gly,benign
P50336:p.Arg38Pro,pathogenic
P50336:p.Gly40Ala,pathogenic
P50336:p.Gly40Glu,pathogenic
P50336:p.Gly57Arg,pathogenic
P50336:p.Arg59Trp,pathogenic
P50336:p.Ala69Val,benign
P50336:p.Arg70Gln,benign
P50336:p.Leu73Pro,pathogenic
P50336:p.Ser76Phe,pathogenic
P50336:p.Val84Gly,pathogenic
P50336:p.Leu85Pro,pathogenic
P50336:p.Ala104Thr,benign
P50336:p.His106Pro,pathogenic
P50336:p.Ser123Thr,benign
P50336:p.Glu133Asp,benign
P50336:p.Lys136Thr,benign
P50336:p.Arg138Pro,pathogenic
P50336:p.Gly139Asp,pathogenic
P50336:p.Gly139Ser,benign
P50336:p.Glu141Asp,benign
P50336:p.Asp143Val,pathogenic
P50336:p.Arg152Cys,pathogenic
P50336:p.Leu154Pro,pathogenic
P50336:p.Val158Leu,pathogenic
P50336:p.Val158Met,pathogenic
P50336:p.Arg168Cys,pathogenic
P50336:p.Arg168His,pathogenic
P50336:p.Gly169Glu,pathogenic
P50336:p.Ala172Val,pathogenic
P50336:p.Leu178Val,pathogenic
P50336:p.Ile197Val,benign
P50336:p.Ala205Pro,benign
P50336:p.Ala205Ser,benign
P50336:p.Ala205Val,pathogenic
P50336:p.Arg217Cys,pathogenic
P50336:p.Leu220Ser,benign
P50336:p.Trp224Gly,pathogenic
P50336:p.Trp224Arg,pathogenic
P50336:p.Gly232Arg,pathogenic
P50336:p.Gly232Ser,pathogenic
P50336:p.Leu236Ser,pathogenic
P50336:p.Thr242Ile,benign
P50336:p.Ser246Asn,benign
P50336:p.Ser250Thr,benign
P50336:p.Leu262Ile,benign
P50336:p.Val270Ile,benign
P50336:p.Arg273Gly,benign
P50336:p.Glu278Lys,benign
P50336:p.Val282Asp,pathogenic
P50336:p.Val282Ile,benign
P50336:p.Ile283Asn,pathogenic
P50336:p.Ile283Val,benign
P50336:p.Val290Met,pathogenic
P50336:p.Glu293Lys,benign
P50336:p.Leu295Pro,pathogenic
P50336:p.Gln322Arg,benign
P50336:p.Gly330Arg,pathogenic
P50336:p.Gly332Ala,pathogenic
P50336:p.Val335Gly,pathogenic
P50336:p.Gly342Ala,benign
P50336:p.Val343Ile,benign
P50336:p.Tyr348Cys,pathogenic
P50336:p.Asp349Ala,pathogenic
P50336:p.Ser350Pro,pathogenic
P50336:p.Gly358Arg,pathogenic
P50336:p.Ala379Val,benign
P50336:p.Glu395Gly,benign
P50336:p.Ala397Asp,pathogenic
P50336:p.Thr399Ala,benign
P50336:p.Leu401Phe,pathogenic
P50336:p.Met406Leu,benign
P50336:p.Asn417Val,benign
P50336:p.Cys418Ser,benign
P50336:p.Ile419Trp,benign
P50336:p.Pro420Leu,benign
P50336:p.Pro420Arg,pathogenic
P50336:p.Gln421Lys,benign
P50336:p.Tyr422Cys,pathogenic
P50336:p.Tyr422His,benign
P50336:p.Tyr422Leu,benign
P50336:p.Thr423Ile,benign
P50336:p.Thr423Lys,benign
P50336:p.Thr423Ser,benign
P50336:p.Leu424Phe,benign
P50336:p.Leu424His,benign
P50336:p.Gly425His,benign
P50336:p.Gly425Ser,benign
P50336:p.His426Phe,benign
P50336:p.His426Pro,benign
P50336:p.Trp427Phe,benign
P50336:p.Trp427His,benign
P50336:p.Gln428Leu,benign
P50336:p.Gln428Pro,benign
P50336:p.Lys429Phe,benign
P50336:p.Lys429Pro,benign
P50336:p.Ser432Ala,benign
P50336:p.Ala433Pro,pathogenic
P50336:p.Thr438Ala,benign
P50336:p.Thr438Ser,benign
P50336:p.Ala439Thr,benign
P50336:p.Leu444Pro,pathogenic
P50336:p.Thr445Ala,benign
P50336:p.Gly448Arg,pathogenic
P50336:p.Ser450Pro,pathogenic
P50336:p.Gly453Arg,pathogenic
P50336:p.Gly453Val,pathogenic
P50336:p.Arg464Leu,benign
P50336:p.Gln465Arg,benign
P50336:p.Ala466Gly,benign
P50336:p.Leu471Met,benign
P50336:p.Leu471Val,benign
P50336:p.Asn476Lys,benign
P50336:p.Ser477Gly,benign
Q92947:p.Ala2Thr,benign
Q92947:p.Val8Ala,benign
Q92947:p.Arg9Gln,benign
Q92947:p.Gly14Val,benign
Q92947:p.His18Arg,benign
Q92947:p.Leu20Phe,benign
Q92947:p.Thr22Met,benign
Q92947:p.Val24Ala,benign
Q92947:p.Ser26Thr,benign
Q92947:p.Gln29Lys,benign
Q92947:p.Gly33Val,benign
Q92947:p.Ser38Gly,benign
Q92947:p.Gln39Arg,benign
Q92947:p.Leu40Pro,benign
Q92947:p.Ala41Thr,benign
Q92947:p.Ser43Ala,benign
Q92947:p.Ser44Leu,benign
Q92947:p.Arg45His,benign
Q92947:p.Glu47Lys,benign
Q92947:p.Glu47Gln,benign
Q92947:p.Gln51Arg,benign
Q92947:p.Glu64Asp,pathogenic
Q92947:p.Phe71Leu,benign
Q92947:p.Arg78Lys,benign
Q92947:p.Arg88Cys,pathogenic
Q92947:p.Arg94Leu,pathogenic
Q92947:p.Glu99Gln,benign
Q92947:p.Gly101Arg,pathogenic
Q92947:p.Cys115Tyr,pathogenic
Q92947:p.Ala122Val,pathogenic
Q92947:p.Arg128Gly,pathogenic
Q92947:p.Val133Ile,benign
Q92947:p.Arg138Gly,pathogenic
Q92947:p.Ser139Leu,pathogenic
Q92947:p.Ala140Val,benign
Q92947:p.Ser146Pro,benign
Q92947:p.Val148Ile,pathogenic
Q92947:p.His150Tyr,benign
Q92947:p.Ala154Val,benign
Q92947:p.Arg161Gln,pathogenic
Q92947:p.Gln167Arg,benign
Q92947:p.Gly178Arg,pathogenic
Q92947:p.Leu179Arg,pathogenic
Q92947:p.Ser184Cys,benign
Q92947:p.Met191Thr,pathogenic
Q92947:p.Ala195Thr,pathogenic
Q92947:p.His196Arg,benign
Q92947:p.Met218Val,benign
Q92947:p.Arg227Pro,pathogenic
Q92947:p.Arg227Trp,benign
Q92947:p.Cys232Arg,benign
Q92947:p.Phe236Leu,pathogenic
Q92947:p.Met242Ile,benign
Q92947:p.Arg243Gln,benign
Q92947:p.Arg249Lys,benign
Q92947:p.Arg257Gln,pathogenic
Q92947:p.Arg257Trp,pathogenic
Q92947:p.Met263Val,pathogenic
Q92947:p.Met266Val,pathogenic
Q92947:p.Gly268Ser,benign
Q92947:p.Gly268Val,pathogenic
Q92947:p.Val271Ala,benign
Q92947:p.Val276Met,benign
Q92947:p.Pro278Ser,pathogenic
Q92947:p.Leu283Pro,pathogenic
Q92947:p.Pro286Ser,benign
Q92947:p.Ala293Gly,benign
Q92947:p.Ala293Thr,pathogenic
Q92947:p.Arg294Trp,pathogenic
Q92947:p.Tyr295His,pathogenic
Q92947:p.Ala298Thr,benign
Q92947:p.Ser305Leu,pathogenic
Q92947:p.Cys308Ser,pathogenic
Q92947:p.Leu309Phe,benign
Q92947:p.Leu309Trp,pathogenic
Q92947:p.Arg313Trp,pathogenic
Q92947:p.Ala316Thr,benign
Q92947:p.Met320Ile,benign
Q92947:p.Pro325Ser,benign
Q92947:p.Leu326Gln,benign
Q92947:p.Arg328Lys,benign
Q92947:p.Arg328Leu,benign
Q92947:p.Leu331Met,benign
Q92947:p.Gln333Glu,pathogenic
Q92947:p.Gln333Leu,benign
Q92947:p.Ala337Glu,benign
Q92947:p.Asp338Asn,benign
Q92947:p.Thr341Ile,benign
Q92947:p.Gly346Ser,benign
Q92947:p.Ala349Thr,pathogenic
Q92947:p.Leu353Phe,benign
Q92947:p.Gly354Arg,pathogenic
Q92947:p.Gly354Ser,pathogenic
Q92947:p.Arg355Cys,pathogenic
Q92947:p.Arg355His,pathogenic
Q92947:p.Ala363Thr,benign
Q92947:p.Glu365Lys,pathogenic
Q92947:p.Cys375Arg,pathogenic
Q92947:p.Ala382Thr,pathogenic
Q92947:p.Arg383Cys,pathogenic
Q92947:p.Arg383His,pathogenic
Q92947:p.Arg386Gln,pathogenic
Q92947:p.Gly390Ala,pathogenic
Q92947:p.Gly390Arg,pathogenic
Q92947:p.Asn392Asp,pathogenic
Q92947:p.Val400Met,pathogenic
Q92947:p.Arg402Gln,pathogenic
Q92947:p.Arg402Trp,pathogenic
Q92947:p.His403Arg,pathogenic
Q92947:p.Asn406Lys,pathogenic
Q92947:p.Leu407Pro,pathogenic
Q92947:p.Glu414Lys,pathogenic
Q92947:p.Thr416Ile,pathogenic
Q92947:p.Thr416Val,benign
Q92947:p.His417Val,benign
Q92947:p.Asp418Gln,benign
Q92947:p.Asp418Arg,benign
Q92947:p.Ile419Met,benign
Q92947:p.His420Cys,benign
Q92947:p.Ala421Ser,benign
Q92947:p.Ala421Thr,pathogenic
Q92947:p.Ala421Val,pathogenic
Q92947:p.Gly425Lys,benign
Q92947:p.Ala427Arg,benign
Q92947:p.Ile428Trp,benign
Q92947:p.Thr429Met,pathogenic
Q92947:p.Thr429Asn,benign
Q92947:p.Gly430Ser,benign
Q92947:p.Ile431Leu,benign
Q92947:p.Ala433Glu,pathogenic
P68133:p.Met1Gln,benign
P68133:p.Cys2Asn,benign
P68133:p.Cys2Ser,benign
P68133:p.Asp3Glu,benign
P68133:p.Asp3Lys,benign
P68133:p.Asp3Tyr,pathogenic
P68133:p.Glu4Asp,benign
P68133:p.Glu4Asn,benign
P68133:p.Asp5Glu,benign
P68133:p.Glu6Asp,benign
P68133:p.Glu6Gly,benign
P68133:p.Thr7Ala,benign
P68133:p.Thr7Ser,benign
P68133:p.Thr7Val,benign
P68133:p.Thr8Ala,benign
P68133:p.Cys12Val,benign
P68133:p.Gly17Lys,benign
P68133:p.Gly17Arg,pathogenic
P68133:p.Leu18Lys,benign
P68133:p.Leu18Met,benign
P68133:p.Val19Cys,benign
P68133:p.Asp27Asn,pathogenic
P68133:p.Val37Leu,pathogenic
P68133:p.Arg39Ser,benign
P68133:p.Pro40Leu,pathogenic
P68133:p.Arg41Lys,benign
P68133:p.His42Asn,benign
P68133:p.His42Tyr,pathogenic
P68133:p.Gln43Arg,pathogenic
P68133:p.Gly44Val,pathogenic
P68133:p.Val45Phe,pathogenic
P68133:p.Met46Val,benign
P68133:p.Val47Asp,benign
P68133:p.Ser54Ala,benign
P68133:p.Ser54Cys,benign
P68133:p.Ser54Thr,benign
P68133:p.Val56Ala,benign
P68133:p.Glu59Gln,benign
P68133:p.Arg64Lys,benign
P68133:p.Gly65Ser,benign
P68133:p.Ile66Asn,pathogenic
P68133:p.Thr68Ile,pathogenic
P68133:p.Leu69Pro,benign
P68133:p.Lys70Arg,benign
P68133:p.Glu74Lys,pathogenic
P68133:p.His75Leu,pathogenic
P68133:p.His75Arg,pathogenic
P68133:p.Ile77Leu,pathogenic
P68133:p.Ile78Val,benign
P68133:p.Thr79Ala,pathogenic
P68133:p.Asp82Thr,benign
P68133:p.Asp83Thr,benign
P68133:p.Met84Trp,benign
P68133:p.Glu85Asp,benign
P68133:p.Glu85Lys,pathogenic
P68133:p.Glu85Val,benign
P68133:p.Lys86Asn,benign
P68133:p.Lys86Gln,benign
P68133:p.Ile87Val,benign
P68133:p.Thr91Ala,benign
P68133:p.Thr91Ser,benign
P68133:p.Leu96Pro,pathogenic
P68133:p.Val98Ile,benign
P68133:p.Ala99Gly,benign
P68133:p.Thr105Ile,benign
P68133:p.Thr105Val,benign
P68133:p.Ala116Thr,pathogenic
P68133:p.Asn117Ser,pathogenic
P68133:p.Asn117Thr,pathogenic
P68133:p.Arg118His,pathogenic
P68133:p.Arg118Ser,benign
P68133:p.Met121Arg,benign
P68133:p.Met125Ile,benign
P68133:p.Met125Leu,benign
P68133:p.Asn130Ser,benign
P68133:p.Val131Ala,benign
P68133:p.Val131Thr,benign
P68133:p.Pro132Ala,benign
P68133:p.Met134Val,pathogenic
P68133:p.Tyr135Phe,benign
P68133:p.Val136Ala,pathogenic
P68133:p.Ile138Met,pathogenic
P68133:p.Gln139Lys,benign
P68133:p.Ala140Pro,pathogenic
P68133:p.Leu142Pro,pathogenic
P68133:p.Ser143Pro,benign
P68133:p.Gly148Asp,pathogenic
P68133:p.Thr150Asn,pathogenic
P68133:p.Thr151Gly,benign
P68133:p.Thr151Ser,benign
P68133:p.Ile153Met,benign
P68133:p.Ile153Val,benign
P68133:p.Asp156Asn,pathogenic
P68133:p.Ser157Ala,benign
P68133:p.Thr162Ala,benign
P68133:p.Thr162Ser,benign
P68133:p.Asn164Thr,benign
P68133:p.Val165Leu,pathogenic
P68133:p.Val165Met,pathogenic
P68133:p.Ile167Val,benign
P68133:p.Ala172Gly,pathogenic
P68133:p.Met178Leu,benign
P68133:p.Met178Gln,benign
P68133:p.Asp181Gly,pathogenic
P68133:p.Asp181His,pathogenic
P68133:p.Asp181Asn,pathogenic
P68133:p.Gly184Asp,pathogenic
P68133:p.Arg185Cys,pathogenic
P68133:p.Arg185Asp,pathogenic
P68133:p.Arg185Gly,pathogenic
P68133:p.Arg185Ser,pathogenic
P68133:p.Leu187Pro,benign
P68133:p.Thr196Ser,benign
P68133:p.Arg198Cys,benign
P68133:p.Arg198Gly,benign
P68133:p.Arg198Leu,pathogenic
P68133:p.Gly199Arg,benign
P68133:p.Gly199Ser,pathogenic
P68133:p.Ala206Ser,benign
P68133:p.Glu209Gly,benign
P68133:p.Ile214Val,benign
P68133:p.Cys219Ala,benign
P68133:p.Cys219Gly,benign
P68133:p.Leu223Pro,pathogenic
P68133:p.Glu226Gly,pathogenic
P68133:p.Glu226Gln,pathogenic
P68133:p.Asn227Gln,benign
P68133:p.Asn227Val,pathogenic
P68133:p.Met229Ile,pathogenic
P68133:p.Met229Thr,pathogenic
P68133:p.Met229Val,pathogenic
P68133:p.Ala230Gly,benign
P68133:p.Ala230Thr,benign
P68133:p.Ala230Val,benign
P68133:p.Thr231Ala,benign
P68133:p.Thr231Met,benign
P68133:p.Ser234Phe,benign
P68133:p.Ser234Thr,benign
P68133:p.Ser235Thr,benign
P68133:p.Ser236Ala,benign
P68133:p.Ser236Pro,benign
P68133:p.Leu238Ile,benign
P68133:p.Leu238Arg,benign
P68133:p.Glu239Gly,benign
P68133:p.Ser241Cys,benign
P68133:p.Ser241Thr,benign
P68133:p.Glu243Lys,pathogenic
P68133:p.Gln248Lys,pathogenic
P68133:p.Gln248Arg,pathogenic
P68133:p.Val249Ile,benign
P68133:p.Ile250Val,benign
P68133:p.Ile252Val,benign
P68133:p.Gly253Asp,pathogenic
P68133:p.Arg258His,pathogenic
P68133:p.Arg258Leu,pathogenic
P68133:p.Glu261Val,pathogenic
P68133:p.Thr262Ala,benign
P68133:p.Leu263Phe,benign
P68133:p.Leu263Pro,benign
P68133:p.Leu263Val,benign
P68133:p.Gln265Leu,pathogenic
P68133:p.Pro266Ala,benign
P68133:p.Pro266Asn,benign
P68133:p.Ser267Met,benign
P68133:p.Ile269Leu,benign
P68133:p.Ile269Val,benign
P68133:p.Gly270Cys,pathogenic
P68133:p.Gly270Asp,pathogenic
P68133:p.Gly270Arg,pathogenic
P68133:p.Met271Arg,pathogenic
P68133:p.Glu272Gly,benign
P68133:p.Ala274Asp,benign
P68133:p.Ala274Glu,pathogenic
P68133:p.Ala274Ser,benign
P68133:p.Ala274Thr,benign
P68133:p.Ile276Val,benign
P68133:p.Thr279Ala,benign
P68133:p.Thr280Ala,benign
P68133:p.Tyr281His,pathogenic
P68133:p.Asn282Lys,pathogenic
P68133:p.Ser283Gly,benign
P68133:p.Ile284Val,benign
P68133:p.Met285Lys,pathogenic
P68133:p.Asp288Gly,pathogenic
P68133:p.Asp294Val,pathogenic
P68133:p.Leu295Phe,benign
P68133:p.Met301Leu,benign
P68133:p.Met301Thr,benign
P68133:p.Thr305Ser,benign
P68133:p.Ala312Gly,benign
P68133:p.Ala312Ser,benign
P68133:p.Ile319Val,benign
P68133:p.Thr320Ala,benign
P68133:p.Ala321Gly,benign
P68133:p.Ala321Thr,benign
P68133:p.Ser325Thr,benign
P68133:p.Ile331Met,benign
P68133:p.Ala333Val,benign
P68133:p.Pro334Ser,pathogenic
P68133:p.Glu336Ala,pathogenic
P68133:p.Lys338Glu,pathogenic
P68133:p.Lys338Ile,pathogenic
P68133:p.Lys338Arg,benign
P68133:p.Gly344Arg,benign
P68133:p.Ala349Arg,benign
P68133:p.Ser350Leu,pathogenic
P68133:p.Leu351Pro,benign
P68133:p.Thr353Ser,benign
P68133:p.Gln356Ala,benign
P68133:p.Ile359Leu,pathogenic
P68133:p.Thr360Gly,benign
P68133:p.Thr360Ser,benign
P68133:p.Lys361Arg,benign
P68133:p.Gln362Asp,benign
P68133:p.Gln362Glu,benign
P68133:p.Gln362Pro,benign
P68133:p.Asp365Glu,benign
P68133:p.Ala367Gly,benign
P68133:p.Ala367Ser,benign
P68133:p.Gly368Asp,benign
P68133:p.Val372Phe,pathogenic
P68133:p.His373Gln,benign
P68133:p.Arg374Gly,benign
P68133:p.Arg374Ser,pathogenic
P68133:p.Lys375Glu,pathogenic
P68133:p.Lys375Gln,pathogenic
P68133:p.Lys375Arg,benign
Q13496:p.Ser5Ala,benign
Q13496:p.Ser5Pro,benign
Q13496:p.Thr6Ala,benign
Q13496:p.Thr6Pro,benign
Q13496:p.Ser7Pro,benign
Q13496:p.Lys8Glu,benign
Q13496:p.Lys8Arg,benign
Q13496:p.His12Arg,benign
Q13496:p.Glu17Asp,benign
Q13496:p.Ile19Phe,benign
Q13496:p.Ile19Val,benign
Q13496:p.Thr22Ala,benign
Q13496:p.Thr22Ile,benign
Q13496:p.Thr22Met,benign
Q13496:p.Thr22Pro,benign
Q13496:p.Thr22Ser,benign
Q13496:p.Ser23Pro,benign
Q13496:p.Arg24Gln,benign
Q13496:p.Gly26Ala,benign
Q13496:p.Gly26Arg,benign
Q13496:p.Val27Ile,benign
Q13496:p.Val27Leu,benign
Q13496:p.Asn28Gly,benign
Q13496:p.Asn28Thr,benign
Q13496:p.Arg29Gln,benign
Q13496:p.Arg29Trp,benign
Q13496:p.Asp30Glu,benign
Q13496:p.Asp30Gly,benign
Q13496:p.Leu31Ile,benign
Q13496:p.Leu31Met,benign
Q13496:p.Leu31Val,benign
Q13496:p.Thr32Gly,benign
Q13496:p.Thr32Asn,benign
Q13496:p.Thr32Pro,benign
Q13496:p.Thr32Ser,benign
Q13496:p.Ala34Cys,benign
Q13496:p.Ala34Pro,benign
Q13496:p.Ala34Ser,benign
Q13496:p.Ala34Thr,benign
Q13496:p.Val35Ile,benign
Q13496:p.Val35Leu,benign
Q13496:p.Arg37Leu,benign
Q13496:p.Arg37Gln,benign
Q13496:p.Pro39Ala,benign
Q13496:p.Thr42Ile,benign
Q13496:p.Thr42Met,benign
Q13496:p.Leu43His,benign
Q13496:p.Leu43Pro,benign
Q13496:p.Leu43Arg,benign
Q13496:p.Ile44Val,benign
Q13496:p.Thr45Ala,benign
Q13496:p.Asp46Glu,benign
Q13496:p.Val49Phe,pathogenic
Q13496:p.Asn56Ser,benign
Q13496:p.Tyr68Asp,pathogenic
Q13496:p.Arg69Cys,pathogenic
Q13496:p.Arg69Pro,pathogenic
Q13496:p.Arg69Ser,pathogenic
Q13496:p.Leu70Phe,pathogenic
Q13496:p.Thr77Ala,benign
Q13496:p.Thr77Met,benign
Q13496:p.Ser80Ala,benign
Q13496:p.Ser80Val,benign
Q13496:p.Leu81Val,benign
Q13496:p.Ile82Leu,benign
Q13496:p.Leu87Pro,pathogenic
Q13496:p.Ala99Ser,benign
Q13496:p.Met116Leu,benign
Q13496:p.Asp132Gly,benign
Q13496:p.Glu135Asp,benign
Q13496:p.Ile136Thr,benign
Q13496:p.Thr138Met,benign
Q13496:p.Arg139Lys,benign
Q13496:p.Tyr140Cys,benign
Q13496:p.Tyr140His,benign
Q13496:p.Ser147Asn,benign
Q13496:p.Leu148Gln,benign
Q13496:p.Leu150Ile,benign
Q13496:p.Leu150Met,benign
Q13496:p.Ala152Ser,benign
Q13496:p.Phe153Asp,benign
Q13496:p.Leu154Val,benign
Q13496:p.Glu157Lys,pathogenic
Q13496:p.Asn160Asp,benign
Q13496:p.Asn160His,benign
Q13496:p.Val161Ala,benign
Q13496:p.Val161Glu,benign
Q13496:p.Val161Leu,benign
Q13496:p.Thr165Met,benign
Q13496:p.Asn168Asp,benign
Q13496:p.Glu171Asp,benign
Q13496:p.Pro179Ser,pathogenic
Q13496:p.Asn180Lys,pathogenic
Q13496:p.Asn180Ser,benign
Q13496:p.His182Asp,benign
Q13496:p.His182Gln,benign
Q13496:p.His182Tyr,benign
Q13496:p.Arg184Gly,pathogenic
Q13496:p.Arg184Leu,pathogenic
Q13496:p.Ile185Val,benign
Q13496:p.Thr186Ile,pathogenic
Q13496:p.Thr186Ser,benign
Q13496:p.Asn189Ser,pathogenic
Q13496:p.Cys191Phe,benign
Q13496:p.Cys191Arg,benign
Q13496:p.Glu193Lys,benign
Q13496:p.Leu194Phe,benign
Q13496:p.Thr197Ile,pathogenic
Q13496:p.Tyr198Asn,pathogenic
Q13496:p.Pro199Ser,pathogenic
Q13496:p.Ala200Pro,benign
Q13496:p.Ala200Ser,benign
Q13496:p.Leu201Pro,benign
Q13496:p.Leu201Val,benign
Q13496:p.Leu202Ser,pathogenic
Q13496:p.Pro205Leu,pathogenic
Q13496:p.Tyr206Phe,benign
Q13496:p.Arg207His,benign
Q13496:p.Ala208Thr,benign
Q13496:p.Ser209Ala,benign
Q13496:p.Ser209Thr,benign
Q13496:p.Asp211Glu,benign
Q13496:p.Arg214Lys,benign
Q13496:p.Arg215Lys,benign
Q13496:p.Thr218Ala,benign
Q13496:p.Thr218Ile,benign
Q13496:p.Ile225Thr,pathogenic
Q13496:p.Pro226Thr,pathogenic
Q13496:p.Val227Met,pathogenic
Q13496:p.Leu228Pro,pathogenic
Q13496:p.Ser229Pro,pathogenic
Q13496:p.Trp230Cys,pathogenic
Q13496:p.His232Arg,pathogenic
Q13496:p.Lys236Arg,benign
Q13496:p.Thr237Ala,benign
Q13496:p.Val240Met,benign
Q13496:p.Arg241Cys,pathogenic
Q13496:p.Arg241Leu,pathogenic
Q13496:p.Met249Val,benign
Q13496:p.Ser250Arg,benign
Q13496:p.Asp256Glu,benign
Q13496:p.Lys259Arg,benign
Q13496:p.Leu261Ile,benign
Q13496:p.Val263Ile,benign
Q13496:p.Val263Leu,benign
Q13496:p.Ile264Ser,pathogenic
Q13496:p.Lys269Gly,benign
Q13496:p.Lys269Arg,benign
Q13496:p.Ile271Leu,benign
Q13496:p.Ile271Val,benign
Q13496:p.Ser272Asn,benign
Q13496:p.Ala279Gly,pathogenic
Q13496:p.Ser282Asn,benign
Q13496:p.Ala300Thr,benign
Q13496:p.Ala300Val,benign
Q13496:p.Asn303Ser,benign
Q13496:p.Ala304Thr,benign
Q13496:p.Phe307Leu,benign
Q13496:p.Phe307Ser,benign
Q13496:p.Met317Arg,pathogenic
Q13496:p.Lys325Arg,benign
Q13496:p.Val332Ile,benign
Q13496:p.Ser343Ala,benign
Q13496:p.Trp346Cys,pathogenic
Q13496:p.Trp346Ser,pathogenic
Q13496:p.Val353Ile,benign
Q13496:p.Lys363Arg,benign
Q13496:p.Val364Gly,pathogenic
Q13496:p.Ser365Ala,benign
Q13496:p.Lys368Arg,benign
Q13496:p.Ser369Thr,benign
Q13496:p.Leu372Val,benign
Q13496:p.His374Asp,pathogenic
Q13496:p.Ser376Asn,pathogenic
Q13496:p.Gly378Glu,pathogenic
Q13496:p.Gly378Arg,pathogenic
Q13496:p.Ser387Ala,benign
Q13496:p.Ser387Tyr,pathogenic
Q13496:p.Ala389Asp,pathogenic
Q13496:p.Leu391Pro,pathogenic
Q13496:p.Phe396Tyr,benign
Q13496:p.Tyr397Cys,pathogenic
Q13496:p.Ser399Thr,benign
Q13496:p.Gly402Ala,pathogenic
Q13496:p.Gly402Arg,pathogenic
Q13496:p.Gly402Val,pathogenic
Q13496:p.Glu404Lys,pathogenic
Q13496:p.Leu406Pro,pathogenic
Q13496:p.Val407Ile,benign
Q13496:p.Trp411Cys,pathogenic
Q13496:p.His416Ile,benign
Q13496:p.Ala419Gly,benign
Q13496:p.Arg421Gln,pathogenic
Q13496:p.Ile422Leu,benign
Q13496:p.Thr430Ala,benign
Q13496:p.Asp431Asn,pathogenic
Q13496:p.Ala432Thr,benign
Q13496:p.Asp433Asn,pathogenic
Q13496:p.Ile442Val,benign
Q13496:p.Cys444Tyr,pathogenic
Q13496:p.Gln461His,benign
Q13496:p.Gln461Arg,benign
Q13496:p.Phe462Leu,benign
Q13496:p.Ile464Met,benign
Q13496:p.Ile465Ala,benign
Q13496:p.Ile465Met,benign
Q13496:p.Ile465Thr,benign
Q13496:p.Ile466Val,benign
Q13496:p.His469Pro,pathogenic
Q13496:p.Leu470Pro,pathogenic
Q13496:p.Phe480Tyr,benign
Q13496:p.Asn481Tyr,pathogenic
Q13496:p.Ser484Ala,benign
Q13496:p.Ala485Met,benign
Q13496:p.Ala485Val,benign
Q13496:p.Arg488Lys,benign
Q13496:p.Thr492Pro,benign
Q13496:p.Arg494Lys,benign
Q13496:p.Val496Ala,benign
Q13496:p.Leu498Val,benign
Q13496:p.Trp499Arg,pathogenic
Q13496:p.Leu501Met,benign
Q13496:p.Asn505Lys,benign
Q13496:p.Asn505Ser,benign
Q13496:p.Glu507Asp,benign
Q13496:p.Lys508Arg,benign
Q13496:p.Lys508Ser,benign
Q13496:p.Lys508Thr,benign
Q13496:p.Phe509Tyr,benign
Q13496:p.Lys510Asn,pathogenic
Q13496:p.Thr515Ser,benign
Q13496:p.Asn519His,benign
Q13496:p.Val521Ile,benign
Q13496:p.Met558Leu,benign
Q13496:p.Met558Val,benign
Q13496:p.Leu561Val,benign
Q13496:p.Ala562Thr,benign
Q13496:p.Arg564Leu,benign
Q13496:p.Glu566Asp,benign
Q13496:p.Lys569Gln,benign
Q13496:p.Glu572Asp,benign
Q13496:p.Leu576Ile,benign
Q13496:p.Ala577Asn,benign
Q13496:p.Ala577Ser,benign
Q13496:p.Ala577Thr,benign
Q13496:p.Asn578Gly,benign
Q13496:p.Asn578Ser,benign
Q13496:p.Ala580Pro,benign
Q13496:p.Lys581Met,benign
Q13496:p.Lys581Gln,benign
Q13496:p.Leu582Ile,benign
Q13496:p.Leu582Val,benign
Q13496:p.Ser583Ala,benign
Q13496:p.Ser583Cys,benign
Q13496:p.Ser583Pro,benign
Q13496:p.Asp584Glu,benign
Q13496:p.Pro586Ala,benign
Q13496:p.Pro586Ser,benign
Q13496:p.Thr587Ala,benign
Q13496:p.Thr587Pro,benign
Q13496:p.Thr587Ser,benign
Q13496:p.Ser588Ala,benign
Q13496:p.Ser588Thr,benign
Q13496:p.Ser590Ala,benign
Q13496:p.Ser591Gly,benign
Q13496:p.Pro592Ser,benign
Q13496:p.Ser593Ala,benign
Q13496:p.Gln594His,benign
Q13496:p.Gln594Pro,benign
Q13496:p.Met595Ile,benign
Q13496:p.Met595Leu,benign
Q13496:p.Met596Leu,benign
Q13496:p.Met596Val,benign
Q13496:p.Pro597Ser,benign
Q13496:p.Gln600His,benign
Q13496:p.Gln600Pro,benign
Q13496:p.Gln600Arg,benign
P82279:p.Met1Ser,benign
P82279:p.Ala2Gln,benign
P82279:p.Leu3Arg,benign
P82279:p.Asn5Ile,benign
P82279:p.Ile6Phe,benign
P82279:p.Tyr8Phe,benign
P82279:p.Leu9Val,benign
P82279:p.Phe12Tyr,benign
P82279:p.Tyr13Lys,benign
P82279:p.Leu14Phe,benign
P82279:p.Ser15Asn,benign
P82279:p.Phe16Leu,benign
P82279:p.Ser17Val,benign
P82279:p.Leu18Thr,benign
P82279:p.Leu19Phe,benign
P82279:p.Ile20Tyr,benign
P82279:p.Tyr21Phe,benign
P82279:p.Ile22Leu,benign
P82279:p.Lys23Val,benign
P82279:p.Asn24Asp,benign
P82279:p.Cys27Phe,pathogenic
P82279:p.Cys45Trp,pathogenic
P82279:p.Asp47Gly,benign
P82279:p.Asn52Ser,benign
P82279:p.Asp58Gly,benign
P82279:p.Leu63Phe,benign
P82279:p.Leu63Val,benign
P82279:p.Asn69Asp,benign
P82279:p.Met70Val,benign
P82279:p.Phe75Ile,benign
P82279:p.Ser113Thr,benign
P82279:p.Lys116Glu,benign
P82279:p.Tyr131Asp,benign
P82279:p.Ala141Thr,benign
P82279:p.Phe144Val,pathogenic
P82279:p.Cys157Ser,pathogenic
P82279:p.Ala161Val,pathogenic
P82279:p.Val162Met,pathogenic
P82279:p.Asp188Asn,benign
P82279:p.Cys195Phe,pathogenic
P82279:p.Thr209Ile,benign
P82279:p.His214Leu,benign
P82279:p.His214Arg,benign
P82279:p.Asn215Asp,benign
P82279:p.Val219Ile,benign
P82279:p.Asp249Asn,benign
P82279:p.Cys250Trp,pathogenic
P82279:p.Leu261Phe,benign
P82279:p.Thr263Ile,benign
P82279:p.Thr300Ile,benign
P82279:p.Cys310Tyr,pathogenic
P82279:p.His311Tyr,benign
P82279:p.Asn312Lys,pathogenic
P82279:p.Gly333Asp,pathogenic
P82279:p.Leu340Ile,benign
P82279:p.Asn351Asp,benign
P82279:p.Arg365His,benign
P82279:p.Ser372Ala,benign
P82279:p.Ser372Thr,benign
P82279:p.Cys383Tyr,pathogenic
P82279:p.Ser402Phe,benign
P82279:p.Tyr433Cys,pathogenic
P82279:p.Cys438Tyr,pathogenic
P82279:p.Asp440Ala,benign
P82279:p.Gln449His,benign
P82279:p.Asn453His,benign
P82279:p.Gly454Arg,pathogenic
P82279:p.Thr455Ile,benign
P82279:p.His459Asp,benign
P82279:p.Gly463Asp,benign
P82279:p.Ser468Gly,benign
P82279:p.Cys480Gly,pathogenic
P82279:p.Cys480Arg,pathogenic
P82279:p.Ala483Thr,benign
P82279:p.Asp491Asn,benign
P82279:p.Ser498Thr,benign
P82279:p.Val501Ala,benign
P82279:p.Gly505Asp,benign
P82279:p.Asn509Asp,benign
P82279:p.Ile510Val,benign
P82279:p.Phe514Leu,benign
P82279:p.Met520Val,benign
P82279:p.Arg526Gln,benign
P82279:p.Ser527Gly,benign
P82279:p.Lys534Asn,pathogenic
P82279:p.Leu535Pro,pathogenic
P82279:p.Asn550Ser,benign
P82279:p.Ser552Pro,benign
P82279:p.Phe557Tyr,benign
P82279:p.Asn561Asp,benign
P82279:p.Asp564Tyr,pathogenic
P82279:p.Glu576Lys,benign
P82279:p.Val578Glu,pathogenic
P82279:p.Asp584Tyr,pathogenic
P82279:p.Cys587Tyr,pathogenic
P82279:p.Glu589Lys,benign
P82279:p.Ala593Ser,benign
P82279:p.Thr597Ser,benign
P82279:p.Met620Thr,benign
P82279:p.Thr621Ala,benign
P82279:p.Asn623Asp,benign
P82279:p.Asn623Ser,benign
P82279:p.Leu628Pro,benign
P82279:p.Asn629Lys,benign
P82279:p.Met633Ile,benign
P82279:p.Gly661Val,benign
P82279:p.Trp675Cys,pathogenic
P82279:p.Pro680Leu,benign
P82279:p.Cys681Tyr,pathogenic
P82279:p.Ser693Asn,benign
P82279:p.Glu703Lys,benign
P82279:p.Glu710Gln,pathogenic
P82279:p.Glu710Val,pathogenic
P82279:p.Tyr711Phe,benign
P82279:p.Asp719Asn,benign
P82279:p.Ile726Val,benign
P82279:p.Ile737Val,benign
P82279:p.Ser740Phe,pathogenic
P82279:p.Met741Thr,pathogenic
P82279:p.Arg744Gln,benign
P82279:p.Thr745Met,pathogenic
P82279:p.Leu753Pro,pathogenic
P82279:p.Arg764Cys,pathogenic
P82279:p.Arg769His,benign
P82279:p.Asn778Lys,benign
P82279:p.Val787Asp,benign
P82279:p.Tyr803Asn,benign
P82279:p.Glu825Lys,benign
P82279:p.Glu825Gln,benign
P82279:p.Val829Ile,benign
P82279:p.Pro836Thr,pathogenic
P82279:p.Asp837His,pathogenic
P82279:p.Glu840Asp,benign
P82279:p.Glu840Gly,benign
P82279:p.Gly846Arg,pathogenic
P82279:p.Phe847Tyr,benign
P82279:p.Gly850Ser,pathogenic
P82279:p.Ile852Thr,pathogenic
P82279:p.Asn861Thr,benign
P82279:p.Pro868Ser,benign
P82279:p.Thr869Ala,benign
P82279:p.Asn870Ser,benign
P82279:p.Asn871Asp,benign
P82279:p.Ala872Val,benign
P82279:p.Asn875Lys,benign
P82279:p.Ala886Pro,benign
P82279:p.Cys891Gly,pathogenic
P82279:p.Asn894Ser,pathogenic
P82279:p.His897Arg,benign
P82279:p.His903Arg,benign
P82279:p.Arg905Leu,benign
P82279:p.Arg905Trp,benign
P82279:p.Leu916His,benign
P82279:p.Thr917Met,benign
P82279:p.Ala921Thr,benign
P82279:p.Val925Ile,benign
P82279:p.His935Arg,benign
P82279:p.Gly936Glu,benign
P82279:p.Cys939Tyr,pathogenic
P82279:p.Cys948Tyr,pathogenic
P82279:p.Asn955His,benign
P82279:p.Gly956Glu,benign
P82279:p.Gly959Ser,benign
P82279:p.Ile961Thr,benign
P82279:p.Asn986Ile,pathogenic
P82279:p.Ile989Thr,pathogenic
P82279:p.Ile1003Thr,pathogenic
P82279:p.Leu1012Ser,pathogenic
P82279:p.Met1020Thr,benign
P82279:p.Thr1024Ala,benign
P82279:p.Thr1024Arg,benign
P82279:p.Ser1025Ile,pathogenic
P82279:p.Ser1025Asn,pathogenic
P82279:p.Thr1033Met,benign
P82279:p.Met1041Thr,pathogenic
P82279:p.Leu1045Met,benign
P82279:p.Asn1057Lys,benign
P82279:p.Glu1058Gln,benign
P82279:p.Leu1071Pro,pathogenic
P82279:p.Arg1085Gly,benign
P82279:p.Thr1099Lys,pathogenic
P82279:p.Ile1100Arg,pathogenic
P82279:p.Ile1100Thr,pathogenic
P82279:p.Gly1103Arg,pathogenic
P82279:p.Leu1107Pro,pathogenic
P82279:p.Leu1107Arg,pathogenic
P82279:p.Ile1117Thr,benign
P82279:p.Asn1141Ser,benign
P82279:p.Tyr1161Cys,pathogenic
P82279:p.Cys1165Trp,pathogenic
P82279:p.Cys1174Gly,pathogenic
P82279:p.Ile1178Thr,benign
P82279:p.Cys1181Arg,pathogenic
P82279:p.Tyr1198Cys,pathogenic
P82279:p.Gly1205Arg,pathogenic
P82279:p.Val1209Gly,benign
P82279:p.Asn1210Asp,benign
P82279:p.Cys1218Phe,pathogenic
P82279:p.Cys1223Ser,pathogenic
P82279:p.His1232Asp,benign
P82279:p.Asn1234His,benign
P82279:p.Tyr1236His,benign
P82279:p.Lys1263Glu,benign
P82279:p.Thr1279Ala,benign
P82279:p.Trp1293Arg,benign
P82279:p.Pro1305Leu,pathogenic
P82279:p.Leu1311Arg,benign
P82279:p.Asn1317His,pathogenic
P82279:p.Cys1321Ser,pathogenic
P82279:p.Val1325Ile,benign
P82279:p.Arg1331His,benign
P82279:p.Cys1332Phe,pathogenic
P82279:p.Ile1341Val,benign
P82279:p.Asp1343Ser,benign
P82279:p.Ile1344Leu,benign
P82279:p.Phe1345Ser,benign
P82279:p.Thr1346Phe,benign
P82279:p.Thr1347Ala,benign
P82279:p.Thr1347Tyr,benign
P82279:p.Ile1348Val,benign
P82279:p.Gly1349Ser,benign
P82279:p.Ser1350Leu,benign
P82279:p.Val1351Leu,benign
P82279:p.Thr1352Phe,benign
P82279:p.Val1353Ile,benign
P82279:p.Val1353Leu,benign
P82279:p.Val1353Trp,benign
P82279:p.Ala1354Gln,benign
P82279:p.Leu1355Asn,benign
P82279:p.Leu1357Phe,benign
P82279:p.Ile1358Gln,benign
P82279:p.Leu1361Ser,benign
P82279:p.Ala1362Tyr,benign
P82279:p.Ile1363Leu,benign
P82279:p.Val1364Ile,benign
P82279:p.Ala1365Asp,pathogenic
P82279:p.Ala1365Leu,benign
P82279:p.Ser1366Arg,benign
P82279:p.Val1367Met,benign
P82279:p.Ser1370Phe,benign
P82279:p.Thr1375Ala,benign
P82279:p.Pro1381Leu,pathogenic
P82279:p.Arg1383His,pathogenic
P82279:p.Glu1387Asn,benign
P82279:p.Gly1388Asp,benign
P82279:p.Ser1389Glu,benign
P82279:p.Arg1390Pro,benign
P82279:p.Glu1392Val,benign
P82279:p.Met1393Glu,benign
P82279:p.Asn1395Gly,benign
P82279:p.Leu1396Glu,benign
P82279:p.Pro1399Ala,benign
P82279:p.Glu1403Gln,benign
P82279:p.Arg1404Glu,benign
P82279:p.Leu1405Asp,benign
P82279:p.Ile1406Tyr,benign
P02452:p.Leu7Ile,benign
P02452:p.Leu12Phe,benign
P02452:p.Leu13Val,benign
P02452:p.Thr16Ala,benign
P02452:p.Leu19Pro,benign
P02452:p.Leu19Gln,benign
P02452:p.His21Arg,benign
P02452:p.Gly22Arg,pathogenic
P02452:p.Glu25Asp,benign
P02452:p.Glu25Lys,benign
P02452:p.Glu25Gln,benign
P02452:p.Gly26Asp,benign
P02452:p.Gly26Glu,benign
P02452:p.Val28Glu,benign
P02452:p.Gly30Asp,benign
P02452:p.Gly30Glu,benign
P02452:p.Gln31Asp,benign
P02452:p.Gln31Ser,benign
P02452:p.Gln31Thr,benign
P02452:p.Asp32Glu,benign
P02452:p.Asp32Lys,benign
P02452:p.Asp32Leu,benign
P02452:p.Asp32Gln,benign
P02452:p.Glu33Ala,benign
P02452:p.Glu33Ser,benign
P02452:p.Asp34Glu,benign
P02452:p.Asp34Pro,benign
P02452:p.Asp34Gln,benign
P02452:p.Ile35Val,benign
P02452:p.Pro37Ala,benign
P02452:p.Pro37Ser,benign
P02452:p.Ile38Val,benign
P02452:p.Thr39Gln,benign
P02452:p.Val41Ile,benign
P02452:p.Asn43Asp,benign
P02452:p.Leu45Ile,benign
P02452:p.Leu45Asn,benign
P02452:p.His48Leu,benign
P02452:p.His48Gln,benign
P02452:p.His48Tyr,benign
P02452:p.Arg50Gly,benign
P02452:p.Asp51Ala,benign
P02452:p.Asp51Glu,benign
P02452:p.Asp51Leu,benign
P02452:p.Trp53Glu,benign
P02452:p.Glu56Lys,benign
P02452:p.Glu56Val,benign
P02452:p.Pro57Ala,benign
P02452:p.Pro57Val,benign
P02452:p.Arg59Gln,benign
P02452:p.Ile60Val,benign
P02452:p.Val62Ile,benign
P02452:p.Lys67Asn,benign
P02452:p.Asp72Glu,benign
P02452:p.Ile74Met,benign
P02452:p.Asp76Glu,benign
P02452:p.Glu77Asp,benign
P02452:p.Glu77Asn,benign
P02452:p.Thr78Ile,benign
P02452:p.Thr78Leu,benign
P02452:p.Thr78Ser,benign
P02452:p.Lys79His,benign
P02452:p.Lys79Asn,benign
P02452:p.Asn80Asp,benign
P02452:p.Asn80Lys,benign
P02452:p.Gly83Asn,benign
P02452:p.Ala84Val,benign
P02452:p.Glu85His,benign
P02452:p.Glu85Lys,benign
P02452:p.Glu85Gln,benign
P02452:p.Glu85Arg,benign
P02452:p.Glu85Ser,benign
P02452:p.Glu85Thr,benign
P02452:p.Glu85Val,benign
P02452:p.Val86Ala,benign
P02452:p.Val86Ile,benign
P02452:p.Val86Pro,benign
P02452:p.Glu88Ala,benign
P02452:p.Glu88Lys,benign
P02452:p.Glu88Pro,benign
P02452:p.Glu88Thr,benign
P02452:p.Gly89Asp,benign
P02452:p.Asp97Glu,benign
P02452:p.Asp97Asn,benign
P02452:p.Gly98Ser,benign
P02452:p.Ser99Ala,benign
P02452:p.Ser99Asp,benign
P02452:p.Ser99Glu,benign
P02452:p.Ser99Gln,benign
P02452:p.Glu100Ala,benign
P02452:p.Glu100Gly,benign
P02452:p.Glu100Val,benign
P02452:p.Ser101Ala,benign
P02452:p.Ser101Gly,benign
P02452:p.Ser101Thr,benign
P02452:p.Pro102Ala,benign
P02452:p.Pro102Thr,benign
P02452:p.Thr103Leu,benign
P02452:p.Thr103Pro,benign
P02452:p.Asp104Glu,benign
P02452:p.Asp104Gly,benign
P02452:p.Asp104Leu,benign
P02452:p.Asp104Gln,benign
P02452:p.Asp104Arg,benign
P02452:p.Asp104Ser,benign
P02452:p.Gln105Ala,benign
P02452:p.Gln105Asp,benign
P02452:p.Gln105Glu,benign
P02452:p.Gln105Gly,benign
P02452:p.Gln105Leu,benign
P02452:p.Gln105Arg,benign
P02452:p.Glu106Gln,benign
P02452:p.Glu106Ser,benign
P02452:p.Glu106Trp,benign
P02452:p.Thr107Gly,benign
P02452:p.Thr107Pro,benign
P02452:p.Thr107Ser,benign
P02452:p.Thr108Ala,benign
P02452:p.Thr108Ile,benign
P02452:p.Thr108Arg,benign
P02452:p.Thr108Ser,benign
P02452:p.Thr108Trp,benign
P02452:p.Gly109Ala,benign
P02452:p.Val110Gly,benign
P02452:p.Val110Leu,benign
P02452:p.Val110Gln,benign
P02452:p.Glu111Ala,benign
P02452:p.Glu111Gly,benign
P02452:p.Pro113Thr,benign
P02452:p.Lys114Leu,benign
P02452:p.Gly115Asn,benign
P02452:p.Asp116Arg,benign
P02452:p.Thr117Ala,benign
P02452:p.Thr117Pro,benign
P02452:p.Gly118Arg,benign
P02452:p.Arg120Leu,benign
P02452:p.Gly121Pro,benign
P02452:p.Pro122Leu,benign
P02452:p.Arg123Gln,benign
P02452:p.Ala126Ile,benign
P02452:p.Ala126Pro,benign
P02452:p.Ala126Ser,benign
P02452:p.Pro128Asn,benign
P02452:p.Pro128Ser,benign
P02452:p.Leu163Met,benign
P02452:p.Ser164Ala,benign
P02452:p.Thr172Ala,benign
P02452:p.Thr172Gly,benign
P02452:p.Thr172Pro,benign
P02452:p.Gly173Ala,benign
P02452:p.Gly173Thr,benign
P02452:p.Ile175Met,benign
P02452:p.Ile175Val,benign
P02452:p.Gly194Arg,pathogenic
P02452:p.Ala195Ser,benign
P02452:p.Ala195Thr,benign
P02452:p.Gly197Arg,pathogenic
P02452:p.Gly200Val,pathogenic
P02452:p.Gly203Val,pathogenic
P02452:p.Ala213Ser,benign
P02452:p.Ser214Ala,benign
P02452:p.Gly221Cys,pathogenic
P02452:p.Pro222Leu,benign
P02452:p.Pro223Ala,benign
P02452:p.Gly224Cys,pathogenic
P02452:p.Glu243Asp,benign
P02452:p.Gly257Arg,pathogenic
P02452:p.Gly263Arg,pathogenic
P02452:p.Gly263Val,pathogenic
P02452:p.Gly266Glu,pathogenic
P02452:p.Gly272Cys,pathogenic
P02452:p.Gly275Asp,pathogenic
P02452:p.Ala280Ser,benign
P02452:p.Pro282Ala,benign
P02452:p.Ala283Pro,benign
P02452:p.Gly287Leu,benign
P02452:p.Gly287Ser,pathogenic
P02452:p.Glu288Ser,benign
P02452:p.Gly290Ile,benign
P02452:p.Pro292Ser,benign
P02452:p.Glu294Asp,benign
P02452:p.Asn295Phe,benign
P02452:p.Gly296Ser,benign
P02452:p.Ala297Val,benign
P02452:p.Ala297Trp,benign
P02452:p.Pro298Phe,benign
P02452:p.Gln300Cys,benign
P02452:p.Met301Gln,benign
P02452:p.Arg312Cys,pathogenic
P02452:p.Ala315Pro,benign
P02452:p.Pro316Ala,benign
P02452:p.Pro316Ser,benign
P02452:p.Pro316Thr,benign
P02452:p.Pro318Ser,benign
P02452:p.Ala319Val,benign
P02452:p.Gly320Ser,benign
P02452:p.Gly320Val,pathogenic
P02452:p.Ala321Thr,benign
P02452:p.Arg322Pro,benign
P02452:p.Asn324Pro,benign
P02452:p.Asp325Leu,benign
P02452:p.Ala327Asp,benign
P02452:p.Gly329Phe,benign
P02452:p.Ala330Pro,benign
P02452:p.Ala331Phe,benign
P02452:p.Gly332His,benign
P02452:p.Gly332Arg,pathogenic
P02452:p.Pro333Ser,benign
P02452:p.Pro334Gln,benign
P02452:p.Gly335Ser,benign
P02452:p.Pro336Ser,benign
P02452:p.Gly338Cys,pathogenic
P02452:p.Pro343Ala,benign
P02452:p.Val349Ala,benign
P02452:p.Val349Phe,pathogenic
P02452:p.Gly350Arg,pathogenic
P02452:p.Gly353Cys,pathogenic
P02452:p.Gly353Asp,pathogenic
P02452:p.Gly353Ser,pathogenic
P02452:p.Ala355Gly,benign
P02452:p.Ala355Ser,benign
P02452:p.Ala355Thr,benign
P02452:p.Gly356Cys,pathogenic
P02452:p.Pro360Ala,benign
P02452:p.Pro360Ser,benign
P02452:p.Gly368Val,pathogenic
P02452:p.Ala382Thr,benign
P02452:p.Gly383Cys,pathogenic
P02452:p.Gly389Arg,pathogenic
P02452:p.Ala390Thr,benign
P02452:p.Pro394Ala,benign
P02452:p.Gly398Ala,pathogenic
P02452:p.Gly398Asp,pathogenic
P02452:p.Gly401Cys,pathogenic
P02452:p.Ser418Ala,benign
P02452:p.Gly422Cys,pathogenic
P02452:p.Gly424Ser,benign
P02452:p.Gly425Ser,pathogenic
P02452:p.Pro426Ala,benign
P02452:p.Gly434Val,pathogenic
P02452:p.Glu435Asp,benign
P02452:p.Ala438Ser,benign
P02452:p.Ala438Thr,benign
P02452:p.Gly440His,benign
P02452:p.Ser441Cys,benign
P02452:p.Ser441Asn,benign
P02452:p.Lys442Arg,benign
P02452:p.Gly443Pro,benign
P02452:p.Asp444Ser,benign
P02452:p.Thr445Ala,benign
P02452:p.Thr445Pro,benign
P02452:p.Ala447Leu,benign
P02452:p.Lys448Cys,benign
P02452:p.Gly449Pro,benign
P02452:p.Glu450Leu,benign
P02452:p.Pro451Gln,benign
P02452:p.Val454Ala,benign
P02452:p.Val454Thr,benign
P02452:p.Gly455Asp,pathogenic
P02452:p.Val456Ile,benign
P02452:p.Gly470Val,pathogenic
P02452:p.Gly476Arg,pathogenic
P02452:p.Thr478Ala,benign
P02452:p.Thr478Ser,benign
P02452:p.Ser492Ala,benign
P02452:p.Ser492Gly,benign
P02452:p.Ala498Ser,benign
P02452:p.Val501Ala,benign
P02452:p.Val501Leu,benign
P02452:p.Gly509Val,pathogenic
P02452:p.Ser513Ala,benign
P02452:p.Pro516Leu,benign
P02452:p.Gly521Ala,benign
P02452:p.Ala526Ser,benign
P02452:p.Gly527Cys,pathogenic
P02452:p.Gly530Ser,pathogenic
P02452:p.Gly533Asp,pathogenic
P02452:p.Gly548Ala,pathogenic
P02452:p.Pro555Arg,pathogenic
P02452:p.Pro556Ala,benign
P02452:p.Pro556Thr,benign
P02452:p.Pro558Ser,benign
P02452:p.Ala559Pro,benign
P02452:p.Ala559Arg,benign
P02452:p.Gly560Ala,benign
P02452:p.Gly560Cys,pathogenic
P02452:p.Gly560Arg,pathogenic
P02452:p.Gly560Ser,pathogenic
P02452:p.Gly569Arg,pathogenic
P02452:p.Pro570Ser,benign
P02452:p.Ala573Ser,benign
P02452:p.Gly581Arg,pathogenic
P02452:p.Gly593Cys,pathogenic
P02452:p.Gly593Ser,pathogenic
P02452:p.Gly602Arg,pathogenic
P02452:p.Pro604Ala,benign
P02452:p.Pro604Thr,benign
P02452:p.Gly605Asp,pathogenic
P02452:p.Val607Ala,benign
P02452:p.Pro609Ala,benign
P02452:p.Ala610Pro,benign
P02452:p.Gly614Arg,pathogenic
P02452:p.Pro621Ala,benign
P02452:p.Pro624Ser,benign
P02452:p.Gly647Ser,pathogenic
P02452:p.Ala649Ser,benign
P02452:p.Ala655Ser,benign
P02452:p.Gly656Ser,pathogenic
P02452:p.Val663Ala,benign
P02452:p.Leu667Ile,benign
P02452:p.Gly683Ser,pathogenic
P02452:p.Pro691Ser,benign
P02452:p.Ala699Gly,benign
P02452:p.Ala699Ser,benign
P02452:p.Gly701Cys,pathogenic
P02452:p.Ala702Pro,benign
P02452:p.Gly704Cys,pathogenic
P02452:p.Gly719Asp,pathogenic
P02452:p.Gly719Ser,pathogenic
P02452:p.Ser720Asn,benign
P02452:p.Gly722Ser,pathogenic
P02452:p.Gly728Arg,pathogenic
P02452:p.Gly734Val,pathogenic
P02452:p.Gly737Asp,pathogenic
P02452:p.Gly740Arg,pathogenic
P02452:p.Gly743Ser,pathogenic
P02452:p.Gly743Val,pathogenic
P02452:p.Ser756Ala,benign
P02452:p.Val762Ala,benign
P02452:p.Val762Pro,benign
P02452:p.Gly764Val,pathogenic
P02452:p.Gly767Ser,pathogenic
P02452:p.Gly776Ser,pathogenic
P02452:p.Pro778Ala,benign
P02452:p.Ser784Ala,benign
P02452:p.Ser784Thr,benign
P02452:p.Ser787Arg,benign
P02452:p.Ala790Pro,benign
P02452:p.Ala795Gly,benign
P02452:p.Gly809Ser,pathogenic
P02452:p.Gly815Val,pathogenic
P02452:p.Gly821Ser,pathogenic
P02452:p.Gly824Arg,pathogenic
P02452:p.Gly833Asp,pathogenic
P02452:p.Ala838Ser,benign
P02452:p.Gly839Ser,pathogenic
P02452:p.Pro840Ala,benign
P02452:p.Pro841Ala,benign
P02452:p.Gly842Arg,pathogenic
P02452:p.Pro843Ala,benign
P02452:p.Pro843Ser,benign
P02452:p.Gly845Arg,pathogenic
P02452:p.Pro846Ala,benign
P02452:p.Ala847Thr,benign
P02452:p.Gly848Arg,pathogenic
P02452:p.Pro849Ala,benign
P02452:p.Gly851Asp,pathogenic
P02452:p.Pro852Ser,benign
P02452:p.Ile853Val,benign
P02452:p.Asn855Ser,benign
P02452:p.Ala861Pro,benign
P02452:p.Ala861Thr,benign
P02452:p.Gly866Ser,pathogenic
P02452:p.Ser867Ala,benign
P02452:p.Gly869Cys,pathogenic
P02452:p.Gly875Ser,pathogenic
P02452:p.Gly884Ser,pathogenic
P02452:p.Pro894Ala,benign
P02452:p.Gly896Cys,pathogenic
P02452:p.Gly896Asp,pathogenic
P02452:p.Pro898Ser,benign
P02452:p.Ala901Val,benign
P02452:p.Gly906Ser,benign
P02452:p.Pro909Ala,benign
P02452:p.Pro919Ala,benign
P02452:p.Pro919Thr,benign
P02452:p.Val922Ala,benign
P02452:p.Gly926Cys,pathogenic
P02452:p.Pro930Val,benign
P02452:p.Ala931Ser,benign
P02452:p.Ala931Thr,benign
P02452:p.Ser936Ala,benign
P02452:p.Ala939Ser,benign
P02452:p.Ala945Ser,benign
P02452:p.Gly947Cys,pathogenic
P02452:p.Thr948Ser,benign
P02452:p.Ala955Gly,benign
P02452:p.Gly977Asp,pathogenic
P02452:p.Pro978Glu,benign
P02452:p.Gly980Val,pathogenic
P02452:p.Ala990Pro,benign
P02452:p.Ala990Ser,benign
P02452:p.Ala990Thr,benign
P02452:p.Ser991Gly,benign
P02452:p.Ser991Asn,benign
P02452:p.Met1000Ala,benign
P02452:p.Met1000Val,benign
P02452:p.Gly1001Cys,pathogenic
P02452:p.Gly1010Ser,pathogenic
P02452:p.Arg1014Cys,pathogenic
P02452:p.Ala1017Ser,benign
P02452:p.Gly1022Ser,pathogenic
P02452:p.Gly1022Val,pathogenic
P02452:p.Gly1025Arg,pathogenic
P02452:p.Ser1029Ala,benign
P02452:p.Ser1029Leu,benign
P02452:p.Pro1030Ala,benign
P02452:p.Pro1030Leu,benign
P02452:p.Gly1031Ala,benign
P02452:p.Ala1032Pro,benign
P02452:p.Lys1033Arg,benign
P02452:p.Gly1034Leu,benign
P02452:p.Asp1035Gln,benign
P02452:p.Thr1039Ser,benign
P02452:p.Gly1040Ser,pathogenic
P02452:p.Ala1042Ser,benign
P02452:p.Gly1043Ser,pathogenic
P02452:p.Pro1044Ala,benign
P02452:p.Pro1044Phe,benign
P02452:p.Ala1047Ser,benign
P02452:p.Pro1048Gly,benign
P02452:p.Gly1049Ser,pathogenic
P02452:p.Ala1050Leu,benign
P02452:p.Ala1050Ser,benign
P02452:p.Pro1051Ile,benign
P02452:p.Gly1052Leu,benign
P02452:p.Ala1053Gln,benign
P02452:p.Gly1055Asp,pathogenic
P02452:p.Gly1055Gln,benign
P02452:p.Val1057Gln,benign
P02452:p.Gly1058Pro,benign
P02452:p.Gly1058Ser,pathogenic
P02452:p.Ala1060Leu,benign
P02452:p.Gly1061Ala,benign
P02452:p.Gly1061Asp,pathogenic
P02452:p.Gly1061Ser,pathogenic
P02452:p.Ser1063Asn,benign
P02452:p.Ser1063Arg,benign
P02452:p.Gly1064Ser,benign
P02452:p.Asp1065Pro,benign
P02452:p.Arg1066Cys,benign
P02452:p.Gly1067Ser,benign
P02452:p.Glu1068Pro,benign
P02452:p.Thr1069Ala,benign
P02452:p.Thr1069Gln,benign
P02452:p.Ala1072Ser,benign
P02452:p.Thr1075Ala,benign
P02452:p.Gly1076Ser,pathogenic
P02452:p.Val1078Ala,benign
P02452:p.Val1078Ile,benign
P02452:p.Gly1079Ser,pathogenic
P02452:p.Val1081Ala,benign
P02452:p.Gly1082Cys,pathogenic
P02452:p.Ala1083Ser,benign
P02452:p.Ala1083Val,benign
P02452:p.Ala1087Thr,benign
P02452:p.Gly1088Ala,pathogenic
P02452:p.Gly1091Ser,pathogenic
P02452:p.Gly1094Ser,pathogenic
P02452:p.Gly1100Asp,pathogenic
P02452:p.Asp1104Glu,benign
P02452:p.Gly1106Ala,pathogenic
P02452:p.Ile1107Leu,benign
P02452:p.Ile1107Met,benign
P02452:p.Gly1124Cys,pathogenic
P02452:p.Gly1124Val,benign
P02452:p.Pro1126Met,benign
P02452:p.Gly1127Leu,benign
P02452:p.Glu1128Asp,benign
P02452:p.Glu1128Ser,benign
P02452:p.Gln1129Pro,benign
P02452:p.Gly1130Ser,benign
P02452:p.Ser1132Val,benign
P02452:p.Gly1133Pro,benign
P02452:p.Ala1134Met,benign
P02452:p.Ser1135Pro,benign
P02452:p.Gly1136Phe,benign
P02452:p.Pro1140Leu,benign
P02452:p.Arg1141Gln,benign
P02452:p.Gly1142Ser,pathogenic
P02452:p.Ser1146Ala,benign
P02452:p.Ala1147Pro,benign
P02452:p.Ala1149Ser,benign
P02452:p.Ala1149Thr,benign
P02452:p.Pro1150Ala,benign
P02452:p.Gly1151Ser,pathogenic
P02452:p.Gly1151Val,pathogenic
P02452:p.Gly1154Arg,pathogenic
P02452:p.Asn1156Ser,benign
P02452:p.Gly1157Asp,pathogenic
P02452:p.Pro1159Ala,benign
P02452:p.Gly1166Cys,pathogenic
P02452:p.Gly1172Asp,pathogenic
P02452:p.Asp1173Glu,benign
P02452:p.Val1177Ala,benign
P02452:p.Pro1180Ala,benign
P02452:p.Gly1181Ser,pathogenic
P02452:p.Gly1184Val,pathogenic
P02452:p.Gly1187Ser,pathogenic
P02452:p.Gly1187Val,pathogenic
P02452:p.Ala1194Gly,benign
P02452:p.Gly1195Ala,benign
P02452:p.Gly1195Cys,pathogenic
P02452:p.Phe1196Leu,benign
P02452:p.Phe1196Tyr,benign
P02452:p.Phe1198Cys,benign
P02452:p.Phe1198Leu,benign
P02452:p.Ser1199Asn,benign
P02452:p.Leu1201Met,benign
P02452:p.Pro1205Leu,benign
P02452:p.Gln1206Lys,benign
P02452:p.Glu1207Arg,benign
P02452:p.Lys1208Arg,benign
P02452:p.Ala1209Ser,benign
P02452:p.His1210Gly,benign
P02452:p.His1210Gln,benign
P02452:p.Asp1211Gly,benign
P02452:p.Gly1212Asp,benign
P02452:p.Gly1212Ser,benign
P02452:p.Asp1219Glu,pathogenic
P02452:p.Asn1244Ser,benign
P02452:p.Arg1252Leu,benign
P02452:p.Arg1252Pro,benign
P02452:p.Lys1253Gln,benign
P02452:p.Lys1253Arg,benign
P02452:p.Asn1254Gly,benign
P02452:p.Ala1256His,benign
P02452:p.Arg1257Pro,benign
P02452:p.Thr1258Gln,benign
P02452:p.Asp1261Pro,benign
P02452:p.Lys1263Thr,benign
P02452:p.Met1264Leu,benign
P02452:p.Cys1265Ile,benign
P02452:p.His1266Ser,benign
P02452:p.Ser1267Pro,benign
P02452:p.Asp1268Cys,benign
P02452:p.Asp1268Asn,benign
P02452:p.Trp1269Pro,benign
P02452:p.Lys1270Ala,benign
P02452:p.Lys1270Asn,benign
P02452:p.Ser1271Thr,benign
P02452:p.Asp1277His,pathogenic
P02452:p.Cys1282Ser,benign
P02452:p.Asn1283Ser,benign
P02452:p.Ile1287Met,benign
P02452:p.Ile1287Val,benign
P02452:p.Glu1297Gln,benign
P02452:p.Gln1304Glu,benign
P02452:p.Gln1304His,benign
P02452:p.Ser1306His,benign
P02452:p.Ser1306Lys,benign
P02452:p.Ser1306Asn,benign
P02452:p.Ser1306Gln,benign
P02452:p.Ser1306Thr,benign
P02452:p.Ala1308Pro,benign
P02452:p.Gln1309Arg,benign
P02452:p.Lys1310Arg,benign
P02452:p.Asn1311Thr,benign
P02452:p.Trp1312Cys,pathogenic
P02452:p.Ile1314Thr,benign
P02452:p.Ile1314Val,benign
P02452:p.Ser1315Asn,benign
P02452:p.Lys1316Ser,benign
P02452:p.Pro1318Ser,benign
P02452:p.Asp1320Glu,benign
P02452:p.Lys1321Leu,benign
P02452:p.Arg1322Lys,benign
P02452:p.Val1324Ile,benign
P02452:p.Phe1326Tyr,benign
P02452:p.Thr1331Ala,benign
P02452:p.Asp1332Gly,benign
P02452:p.Phe1334Ser,benign
P02452:p.Phe1336Leu,benign
P02452:p.Glu1337Thr,benign
P02452:p.Gly1340Ser,benign
P02452:p.Gln1341Glu,benign
P02452:p.Gln1341Arg,benign
P02452:p.Gly1342Asp,benign
P02452:p.Asp1344His,benign
P02452:p.Ile1366Leu,benign
P02452:p.Val1374Ile,benign
P02452:p.Met1377Leu,benign
P02452:p.Gln1380His,benign
P02452:p.Lys1385Arg,benign
P02452:p.Ala1387Ser,benign
P02452:p.Leu1388Arg,pathogenic
P02452:p.Ile1398Leu,benign
P02452:p.Ala1400Ser,benign
P02452:p.Ser1409Thr,benign
P02452:p.Thr1411Pro,benign
P02452:p.Val1412Glu,benign
P02452:p.Val1412Phe,benign
P02452:p.Val1412Tyr,benign
P02452:p.Asp1413Asn,pathogenic
P02452:p.Ala1421Asn,benign
P02452:p.Ala1421Thr,benign
P02452:p.Val1426Ile,benign
P02452:p.Ile1427Met,benign
P02452:p.Leu1445Met,benign
P02452:p.Val1447Ile,benign
P02452:p.Phe1456Ile,benign
P02452:p.Phe1456Leu,benign
P02452:p.Phe1456Met,benign
P02452:p.Asp1457Asn,benign
P02452:p.Val1458Ile,benign
P02452:p.Val1458Leu,benign
P02452:p.Gly1459Ala,benign
P02452:p.Gly1459Ser,benign
P02452:p.Pro1460Ser,benign
P02452:p.Val1461Ala,benign
P02452:p.Leu1464Pro,pathogenic
P49815:p.Thr5Ala,benign
P49815:p.Lys16Arg,benign
P49815:p.Ile17Asn,benign
P49815:p.Leu19Phe,benign
P49815:p.Arg29Lys,benign
P49815:p.Ile44Val,benign
P49815:p.Glu47Arg,benign
P49815:p.Leu48Gln,benign
P49815:p.Ser49Ala,benign
P49815:p.Met50Ala,benign
P49815:p.Met50Val,benign
P49815:p.Cys52Val,benign
P49815:p.Leu54Gln,benign
P49815:p.Asn55Gly,benign
P49815:p.Asn55Ser,benign
P49815:p.Asn56His,benign
P49815:p.Arg57Gly,benign
P49815:p.Ile58Val,benign
P49815:p.Arg59Glu,benign
P49815:p.Met60Gly,benign
P49815:p.Ile61Leu,benign
P49815:p.Gly62Met,benign
P49815:p.Gln63Leu,benign
P49815:p.Ile64Val,benign
P49815:p.Glu66Ser,benign
P49815:p.Val67Leu,benign
P49815:p.Ala68Glu,benign
P49815:p.Lys69Glu,benign
P49815:p.Lys69Arg,benign
P49815:p.Thr70Ser,benign
P49815:p.Lys71His,benign
P49815:p.Phe73Gln,benign
P49815:p.Glu74Gly,benign
P49815:p.Glu75Phe,benign
P49815:p.Leu88Met,benign
P49815:p.Leu95Ala,benign
P49815:p.Ala97Thr,benign
P49815:p.Arg98Gln,benign
P49815:p.Lys106Arg,benign
P49815:p.Val109Ile,benign
P49815:p.Gly111Arg,benign
P49815:p.Val118Ile,benign
P49815:p.Lys125Arg,benign
P49815:p.Glu141Asp,benign
P49815:p.Ala161Ser,benign
P49815:p.Cys227Tyr,pathogenic
P49815:p.Leu238Val,benign
P49815:p.Val241Ile,benign
P49815:p.Ile247Val,benign
P49815:p.Val249Ala,benign
P49815:p.Lys258Asn,pathogenic
P49815:p.Lys258Gln,benign
P49815:p.Arg261Pro,pathogenic
P49815:p.Leu292Pro,pathogenic
P49815:p.Gly294Glu,pathogenic
P49815:p.Arg313Lys,benign
P49815:p.Ala328Val,benign
P49815:p.Pro330Ala,benign
P49815:p.Asn331Lys,pathogenic
P49815:p.Val355Ala,benign
P49815:p.Ala357Thr,benign
P49815:p.Leu361Pro,pathogenic
P49815:p.Pro378Leu,benign
P49815:p.Arg381Lys,benign
P49815:p.Ile383Val,benign
P49815:p.Tyr407Asp,pathogenic
P49815:p.Arg413Ser,benign
P49815:p.Ala415Val,benign
P49815:p.Ala447Val,benign
P49815:p.Met449Ile,pathogenic
P49815:p.Asn486Ile,pathogenic
P49815:p.His523Tyr,benign
P49815:p.Asn525Ser,pathogenic
P49815:p.Met535Ala,benign
P49815:p.Ala536Thr,benign
P49815:p.Ser540Phe,benign
P49815:p.Pro541Ala,benign
P49815:p.Val550Ala,benign
P49815:p.Tyr553His,benign
P49815:p.Leu590Lys,benign
P49815:p.His597Gln,benign
P49815:p.Lys599Met,pathogenic
P49815:p.Ser601Lys,benign
P49815:p.Ser601Asn,benign
P49815:p.Ser601Arg,benign
P49815:p.Arg611Gln,pathogenic
P49815:p.Arg611Trp,pathogenic
P49815:p.Ala614Asp,pathogenic
P49815:p.Val645Ile,benign
P49815:p.Pro651Leu,benign
P49815:p.Thr659Ala,benign
P49815:p.Ser660Gly,benign
P49815:p.Pro662Ser,benign
P49815:p.Thr667Ser,benign
P49815:p.Pro670Ala,benign
P49815:p.Pro670Ser,benign
P49815:p.Ala673Thr,benign
P49815:p.Ser683Phe,benign
P49815:p.Val684Leu,benign
P49815:p.Cys696Tyr,pathogenic
P49815:p.Ser701Thr,benign
P49815:p.Leu717Arg,pathogenic
P49815:p.Gly743Ser,benign
P49815:p.Leu747Val,benign
P49815:p.Ile797Val,benign
P49815:p.Pro816Leu,pathogenic
P49815:p.Ile819Met,benign
P49815:p.Leu826Met,pathogenic
P49815:p.His855Gln,benign
P49815:p.Met895Val,pathogenic
P49815:p.Arg905Gln,pathogenic
P49815:p.Arg905Trp,pathogenic
P49815:p.Thr993Ala,benign
P49815:p.Val1008Leu,benign
P49815:p.Val1008Met,benign
P49815:p.Asn1017Ser,benign
P49815:p.Asn1017Thr,benign
P49815:p.Leu1027Pro,pathogenic
P49815:p.Val1034Ile,benign
P49815:p.Asp1084Glu,pathogenic
P49815:p.Ser1090Ala,benign
P49815:p.Ser1090Pro,benign
P49815:p.Ser1094Leu,benign
P49815:p.Ser1097Asn,benign
P49815:p.Gly1099Val,benign
P49815:p.Val1100Met,benign
P49815:p.His1101Asn,benign
P49815:p.Arg1122Cys,benign
P49815:p.Gly1136Ala,benign
P49815:p.Ala1141Thr,benign
P49815:p.Val1144Met,pathogenic
P49815:p.Phe1149Leu,benign
P49815:p.Leu1150Pro,benign
P49815:p.Ala1153Val,benign
P49815:p.Thr1154Ala,benign
P49815:p.Pro1156Ser,benign
P49815:p.Arg1159Gln,benign
P49815:p.Ala1161Thr,benign
P49815:p.Ala1161Val,benign
P49815:p.Ala1164Met,benign
P49815:p.Ala1164Thr,benign
P49815:p.Ala1164Val,benign
P49815:p.Pro1166Ala,benign
P49815:p.Ala1169Thr,benign
P49815:p.Ala1171Thr,benign
P49815:p.Gly1172Ser,benign
P49815:p.Thr1173Ala,benign
P49815:p.Arg1174Gln,benign
P49815:p.Val1175Leu,benign
P49815:p.Val1177Met,benign
P49815:p.Glu1179Gln,benign
P49815:p.Tyr1186Cys,benign
P49815:p.Arg1200Trp,pathogenic
P49815:p.Asn1225Ser,benign
P49815:p.Pro1227Leu,pathogenic
P49815:p.Leu1235Asn,benign
P49815:p.Arg1240Trp,pathogenic
P49815:p.Ala1248Leu,benign
P49815:p.Leu1249Arg,benign
P49815:p.Tyr1250Asp,benign
P49815:p.Ser1259Thr,benign
P49815:p.Thr1260Arg,benign
P49815:p.Lys1262Arg,benign
P49815:p.Pro1263Ala,benign
P49815:p.Pro1263Arg,benign
P49815:p.Pro1264Gly,benign
P49815:p.Pro1264Trp,benign
P49815:p.Pro1265Arg,benign
P49815:p.Pro1265Ser,benign
P49815:p.Leu1266Ser,benign
P49815:p.Leu1266Thr,benign
P49815:p.Pro1267Arg,benign
P49815:p.Arg1268Pro,benign
P49815:p.Arg1268Thr,benign
P49815:p.Asn1270Leu,benign
P49815:p.Asn1270Ser,benign
P49815:p.Thr1271Ala,benign
P49815:p.Thr1271Ser,benign
P49815:p.Ser1282Gly,benign
P49815:p.His1288Tyr,benign
P49815:p.Arg1289Pro,benign
P49815:p.Ser1290Val,benign
P49815:p.Val1291Cys,benign
P49815:p.Ser1292Val,benign
P49815:p.Trp1293Leu,benign
P49815:p.Ala1294Pro,benign
P49815:p.Asp1295Val,pathogenic
P49815:p.Val1298Ala,benign
P49815:p.Met1300Val,benign
P49815:p.Ser1304Ile,benign
P49815:p.Gly1306Ala,benign
P49815:p.Val1310Ala,benign
P49815:p.Leu1311Pro,benign
P49815:p.Glu1313Ala,benign
P49815:p.Pro1314Ser,benign
P49815:p.Pro1315Ser,pathogenic
P49815:p.Gly1316Glu,benign
P49815:p.Asp1319Glu,benign
P49815:p.Val1320Phe,benign
P49815:p.Ala1322Pro,benign
P49815:p.Ala1322Val,benign
P49815:p.Ala1323Val,benign
P49815:p.Met1326Thr,benign
P49815:p.Met1326Val,benign
P49815:p.Arg1329Cys,benign
P49815:p.Arg1329His,pathogenic
P49815:p.Thr1330Ala,benign
P49815:p.Thr1330Met,benign
P49815:p.Val1339Thr,benign
P49815:p.Leu1347Phe,benign
P49815:p.Gly1354Ala,benign
P49815:p.Arg1355Gly,benign
P49815:p.Val1362Ala,benign
P49815:p.Ser1375Pro,benign
P49815:p.Thr1393Ser,benign
P49815:p.Asp1406Glu,benign
P49815:p.Thr1422Ile,benign
P49815:p.Glu1426Asp,benign
P49815:p.Ser1427Gly,benign
P49815:p.Ala1429Thr,benign
P49815:p.Ser1431Pro,benign
P49815:p.Ala1432Gly,benign
P49815:p.Ser1433Pro,benign
P49815:p.Gln1440Arg,benign
P49815:p.Lys1473Arg,benign
P49815:p.Arg1477Lys,benign
P49815:p.Leu1480Phe,benign
P49815:p.Thr1485Ala,benign
P49815:p.Asn1488Ser,benign
P49815:p.Pro1497Arg,pathogenic
P49815:p.Ser1498Asn,pathogenic
P49815:p.Ser1498Arg,benign
P49815:p.Asn1522Ser,benign
P49815:p.Tyr1549Cys,pathogenic
P49815:p.Gln1616His,benign
P49815:p.Val1618Ile,benign
P49815:p.His1620Tyr,pathogenic
P49815:p.Asn1643Ile,pathogenic
P49815:p.Asn1643Lys,pathogenic
P49815:p.Tyr1650Cys,pathogenic
P49815:p.Asn1651Ser,pathogenic
P49815:p.Ser1653Phe,pathogenic
P49815:p.Val1673Ile,benign
P49815:p.Pro1675Leu,pathogenic
P49815:p.Asn1681Lys,pathogenic
P49815:p.Lys1689Asn,benign
P49815:p.Asp1690Tyr,pathogenic
P49815:p.Ser1704Thr,pathogenic
P49815:p.Pro1709Leu,pathogenic
P49815:p.Pro1709Ser,benign
P49815:p.Ala1712Glu,pathogenic
P49815:p.Ser1730Thr,benign
P49815:p.Arg1743Pro,pathogenic
P49815:p.Arg1743Gln,pathogenic
P49815:p.Leu1744Pro,pathogenic
P49815:p.Leu1750Phe,pathogenic
P49815:p.Ala1759Pro,benign
P49815:p.Ala1759Thr,benign
P49815:p.Ser1772Ala,benign
P49815:p.His1773Pro,pathogenic
P49815:p.His1773Tyr,benign
P49815:p.Ser1774Ala,benign
P49815:p.Ser1774Thr,benign
P49815:p.Ala1776Gly,benign
P49815:p.Pro1781Ala,benign
P49815:p.Glu1783Gln,pathogenic
P49815:p.Thr1785Ala,benign
P49815:p.Pro1786Ser,benign
P49815:p.Val1790Met,benign
P49815:p.Ile1797Val,benign
P49815:p.Val1807Leu,benign
P11362:p.Met1Ala,benign
P11362:p.Met1Lys,benign
P11362:p.Met1Thr,benign
P11362:p.Trp2Cys,benign
P11362:p.Trp2Glu,benign
P11362:p.Trp2Lys,benign
P11362:p.Trp2Val,benign
P11362:p.Ser3Ala,benign
P11362:p.Ser3Gly,benign
P11362:p.Ser3Thr,benign
P11362:p.Trp4Phe,benign
P11362:p.Trp4Leu,benign
P11362:p.Trp4Arg,benign
P11362:p.Lys5Glu,benign
P11362:p.Lys5Gly,benign
P11362:p.Lys5Asn,benign
P11362:p.Lys5Arg,benign
P11362:p.Lys5Ser,benign
P11362:p.Cys6Glu,benign
P11362:p.Cys6Gly,benign
P11362:p.Cys6Ile,benign
P11362:p.Cys6Leu,benign
P11362:p.Cys6Asn,benign
P11362:p.Cys6Ser,benign
P11362:p.Cys6Thr,benign
P11362:p.Cys6Tyr,benign
P11362:p.Leu7Ile,benign
P11362:p.Leu7Met,benign
P11362:p.Leu7Arg,benign
P11362:p.Leu8Gly,benign
P11362:p.Leu8His,benign
P11362:p.Leu8Ile,benign
P11362:p.Leu8Val,benign
P11362:p.Phe9Leu,benign
P11362:p.Phe9Ser,benign
P11362:p.Phe9Val,benign
P11362:p.Trp10Pro,benign
P11362:p.Ala11Glu,benign
P11362:p.Ala11Gly,benign
P11362:p.Ala11Asn,benign
P11362:p.Ala11Arg,benign
P11362:p.Val12Leu,benign
P11362:p.Val12Gln,benign
P11362:p.Leu13Gly,benign
P11362:p.Val14Ala,benign
P11362:p.Val14Phe,benign
P11362:p.Val14Tyr,benign
P11362:p.Thr15Pro,benign
P11362:p.Thr15Ser,benign
P11362:p.Thr15Val,benign
P11362:p.Ala16Leu,benign
P11362:p.Ala16Ser,benign
P11362:p.Thr17Ala,benign
P11362:p.Thr17Cys,benign
P11362:p.Thr17Gly,benign
P11362:p.Thr17Pro,benign
P11362:p.Leu18Arg,benign
P11362:p.Leu18Tyr,benign
P11362:p.Cys19Gly,benign
P11362:p.Cys19His,benign
P11362:p.Cys19Lys,benign
P11362:p.Thr20Ala,benign
P11362:p.Thr20Gly,benign
P11362:p.Thr20Lys,benign
P11362:p.Thr20Met,benign
P11362:p.Thr20Pro,benign
P11362:p.Thr20Ser,benign
P11362:p.Ala21Gly,benign
P11362:p.Ala21Leu,benign
P11362:p.Ala21Trp,benign
P11362:p.Arg22Ala,benign
P11362:p.Arg22Gly,benign
P11362:p.Arg22Lys,benign
P11362:p.Pro23Ala,benign
P11362:p.Pro23Ile,benign
P11362:p.Pro23Val,benign
P11362:p.Ser24Ala,benign
P11362:p.Ser24Gly,benign
P11362:p.Ser24Pro,benign
P11362:p.Ser24Thr,benign
P11362:p.Pro25Leu,benign
P11362:p.Pro25Ser,benign
P11362:p.Thr26Ala,benign
P11362:p.Thr26Val,benign
P11362:p.Thr26Tyr,benign
P11362:p.Leu27Met,benign
P11362:p.Leu27Ser,benign
P11362:p.Leu27Thr,benign
P11362:p.Pro28Ser,benign
P11362:p.Glu29Ala,benign
P11362:p.Glu29Leu,benign
P11362:p.Glu29Val,benign
P11362:p.Gln30Ala,benign
P11362:p.Gln30Glu,benign
P11362:p.Gln30His,benign
P11362:p.Gln30Lys,benign
P11362:p.Gln30Val,benign
P11362:p.Ala31Gly,benign
P11362:p.Ala31Pro,benign
P11362:p.Ala31Thr,benign
P11362:p.Gln32Cys,benign
P11362:p.Gln32Leu,benign
P11362:p.Gln32Pro,benign
P11362:p.Gln32Arg,benign
P11362:p.Gln32Ser,benign
P11362:p.Pro33Ser,benign
P11362:p.Trp34Pro,benign
P11362:p.Gly35Lys,benign
P11362:p.Ala36Asp,benign
P11362:p.Ala36Gly,benign
P11362:p.Ala36Thr,benign
P11362:p.Ala36Val,benign
P11362:p.Ser42Ala,benign
P11362:p.Phe43Leu,benign
P11362:p.Phe43Ser,benign
P11362:p.Val45Ala,benign
P11362:p.Pro47Ser,benign
P11362:p.Gly48Ser,pathogenic
P11362:p.Leu50Ala,benign
P11362:p.Leu50Pro,benign
P11362:p.Arg58Gln,benign
P11362:p.Asp59Glu,benign
P11362:p.Ser63Ile,benign
P11362:p.Asn65Asp,benign
P11362:p.Val71Ala,benign
P11362:p.Gln72Lys,benign
P11362:p.Ala74Met,benign
P11362:p.Ala74Val,benign
P11362:p.Glu75Asp,benign
P11362:p.Ser76Gly,benign
P11362:p.Ser76Asn,benign
P11362:p.Arg78Cys,pathogenic
P11362:p.Arg80His,benign
P11362:p.Glu84Ala,benign
P11362:p.Gln89Arg,benign
P11362:p.Gln89Trp,benign
P11362:p.Asp90Ala,benign
P11362:p.Asp90Glu,benign
P11362:p.Asp90Gly,benign
P11362:p.Ser91Ala,benign
P11362:p.Val92Ala,benign
P11362:p.Val92Gly,benign
P11362:p.Val92Ile,benign
P11362:p.Val92Met,benign
P11362:p.Val92Asn,benign
P11362:p.Val92Thr,benign
P11362:p.Ala94Gly,benign
P11362:p.Ala94Ser,benign
P11362:p.Ala94Thr,benign
P11362:p.Gly97Asp,pathogenic
P11362:p.Tyr99Cys,pathogenic
P11362:p.Ala100Thr,benign
P11362:p.Cys101Phe,pathogenic
P11362:p.Val102Ile,pathogenic
P11362:p.Val102Met,benign
P11362:p.Ser104Asn,benign
P11362:p.Ser104Thr,benign
P11362:p.Ser105Asn,benign
P11362:p.Ser107Leu,benign
P11362:p.Thr111Ile,benign
P11362:p.Thr111Val,benign
P11362:p.Thr112Ser,benign
P11362:p.Asn117Ser,pathogenic
P11362:p.Val118Ile,benign
P11362:p.Ser125Ala,benign
P11362:p.Asp128Glu,benign
P11362:p.Asp129Ala,pathogenic
P11362:p.Asp132Ser,benign
P11362:p.Thr141Ala,benign
P11362:p.Thr141Met,benign
P11362:p.Thr141Asn,benign
P11362:p.Thr141Ser,benign
P11362:p.Asn143Ser,benign
P11362:p.Met149Arg,benign
P11362:p.Met149Thr,benign
P11362:p.Pro150Ala,benign
P11362:p.Lys163Asn,benign
P11362:p.Leu165Ser,pathogenic
P11362:p.Ala167Ser,pathogenic
P11362:p.Cys178Ser,pathogenic
P11362:p.Ser181Asn,benign
P11362:p.Asn185Ser,benign
P11362:p.Asn185Tyr,benign
P11362:p.Thr187Ser,benign
P11362:p.Trp190Cys,benign
P11362:p.Leu191Ser,pathogenic
P11362:p.Asp224His,pathogenic
P11362:p.Tyr228Asp,pathogenic
P11362:p.Ile231Val,benign
P11362:p.Glu235Ala,benign
P11362:p.Glu235Lys,benign
P11362:p.Gly237Asp,pathogenic
P11362:p.Gly237Ser,pathogenic
P11362:p.Ile239Thr,pathogenic
P11362:p.His241Phe,benign
P11362:p.Thr242Ser,benign
P11362:p.Tyr243Phe,benign
P11362:p.Gln244Pro,benign
P11362:p.Leu245Phe,benign
P11362:p.Leu245Pro,pathogenic
P11362:p.Asp246Phe,benign
P11362:p.Val247Ser,benign
P11362:p.Arg250Gln,pathogenic
P11362:p.Arg250Trp,pathogenic
P11362:p.Pro252Arg,pathogenic
P11362:p.Arg254Gln,pathogenic
P11362:p.Lys265Glu,benign
P11362:p.Gly270Asp,pathogenic
P11362:p.Val273Met,pathogenic
P11362:p.Glu274Gly,pathogenic
P11362:p.Met276Val,benign
P11362:p.Cys277Tyr,pathogenic
P11362:p.Pro283Arg,pathogenic
P11362:p.Glu294Lys,benign
P11362:p.Ile300Thr,pathogenic
P11362:p.Val308Asp,benign
P11362:p.Thr313His,benign
P11362:p.Ala314Ser,benign
P11362:p.Val316Ile,benign
P11362:p.Thr318Ser,benign
P11362:p.Thr319Ser,benign
P11362:p.Lys321Ala,benign
P11362:p.His327Thr,benign
P11362:p.Arg329Phe,benign
P11362:p.Asn330Ile,pathogenic
P11362:p.Ser332Cys,pathogenic
P11362:p.Ser332Thr,benign
P11362:p.Phe333Glu,benign
P11362:p.Glu334Ala,benign
P11362:p.Asp335Gln,benign
P11362:p.Ala336Ser,benign
P11362:p.Tyr339Cys,pathogenic
P11362:p.Thr340Met,benign
P11362:p.Thr340Val,benign
P11362:p.Leu342Lys,benign
P11362:p.Leu342Ser,pathogenic
P11362:p.Ala343Val,pathogenic
P11362:p.Gly344Ser,benign
P11362:p.Ser346Cys,pathogenic
P11362:p.Ser346Tyr,benign
P11362:p.Gly348Arg,pathogenic
P11362:p.Leu349Glu,benign
P11362:p.Leu349Ile,benign
P11362:p.Ser350Ala,benign
P11362:p.His351Asn,benign
P11362:p.His352Gln,benign
P11362:p.Ala354Val,benign
P11362:p.Leu359Thr,benign
P11362:p.Glu360Lys,benign
P11362:p.Glu360Pro,benign
P11362:p.Glu363Asp,benign
P11362:p.Glu364Asp,benign
P11362:p.Pro366Leu,pathogenic
P11362:p.Val368Ala,benign
P11362:p.Met369Ile,benign
P11362:p.Thr370Ala,benign
P11362:p.Thr370Pro,benign
P11362:p.Leu373Phe,benign
P11362:p.Leu373Val,benign
P11362:p.Tyr374Cys,pathogenic
P11362:p.Ile377Val,benign
P11362:p.Cys381Arg,pathogenic
P11362:p.Thr382Ala,benign
P11362:p.Val391Ala,benign
P11362:p.Val391Leu,benign
P11362:p.Gly392Val,benign
P11362:p.Ser393Ala,benign
P11362:p.Ser393Thr,benign
P11362:p.Val394Ala,benign
P11362:p.Ile395Val,benign
P11362:p.Val396Ile,benign
P11362:p.Val396Thr,benign
P11362:p.Tyr397Cys,benign
P11362:p.Met399Thr,benign
P11362:p.Gly402Asn,benign
P11362:p.Gly402Ser,benign
P11362:p.Val427Leu,benign
P11362:p.Val427Trp,benign
P11362:p.Thr428Gln,benign
P11362:p.Ala435Thr,benign
P11362:p.Leu457Pro,benign
P11362:p.Arg470Leu,pathogenic
P11362:p.Pro483Ala,benign
P11362:p.Pro483Thr,pathogenic
P11362:p.Gly490Arg,pathogenic
P11362:p.Ile498Ser,benign
P11362:p.Ile498Val,benign
P11362:p.Lys504Arg,benign
P11362:p.Asn506His,benign
P11362:p.Asn506Ser,benign
P11362:p.Ser518Ala,benign
P11362:p.Ser518Pro,benign
P11362:p.Ala520Thr,pathogenic
P11362:p.Thr521Ala,benign
P11362:p.Ile538Val,pathogenic
P11362:p.Asp554Glu,benign
P11362:p.Asp554Gly,benign
P11362:p.Tyr572Phe,benign
P11362:p.Ser588Gly,benign
P11362:p.Ser588Arg,benign
P11362:p.Ser588Thr,benign
P11362:p.His589Arg,benign
P11362:p.Asn590Ala,benign
P11362:p.Asn590Asp,benign
P11362:p.Asn590His,benign
P11362:p.Asn590Ser,benign
P11362:p.Gln594Leu,benign
P11362:p.Lys598Gln,benign
P11362:p.Lys598Arg,benign
P11362:p.Val601Ile,benign
P11362:p.Val607Met,pathogenic
P11362:p.Lys618Asn,pathogenic
P11362:p.His621Arg,pathogenic
P11362:p.Arg622Gly,pathogenic
P11362:p.Arg622Gln,pathogenic
P11362:p.Asp623Tyr,pathogenic
P11362:p.Arg627Thr,pathogenic
P11362:p.Asn628Lys,pathogenic
P11362:p.Asn635Ser,benign
P11362:p.Gly660Asp,benign
P11362:p.Arg661Gly,benign
P11362:p.Leu662Ala,benign
P11362:p.Pro663Ala,benign
P11362:p.Val664Leu,benign
P11362:p.Lys665Cys,benign
P11362:p.Trp666Arg,pathogenic
P11362:p.Met667Leu,benign
P11362:p.Ala668Phe,benign
P11362:p.Ala668Thr,benign
P11362:p.Pro669His,benign
P11362:p.Glu670Cys,benign
P11362:p.Glu670Lys,pathogenic
P11362:p.Ala671Gly,benign
P11362:p.Ala671Pro,pathogenic
P11362:p.Leu672Ser,benign
P11362:p.Phe673Leu,benign
P11362:p.Phe673Pro,benign
P11362:p.Gln680Pro,benign
P11362:p.Gln680Arg,benign
P11362:p.Ser681Ile,benign
P11362:p.Asp682Cys,benign
P11362:p.Asp682Glu,benign
P11362:p.Val683Glu,benign
P11362:p.Val683Arg,benign
P11362:p.Ser685Phe,pathogenic
P11362:p.Gly687Arg,pathogenic
P11362:p.Glu692Gly,pathogenic
P11362:p.Ile693Phe,pathogenic
P11362:p.Tyr701Asn,benign
P11362:p.Gly703Arg,pathogenic
P11362:p.Gly703Ser,pathogenic
P11362:p.Met719Arg,pathogenic
P11362:p.Pro722His,pathogenic
P11362:p.Pro722Ser,pathogenic
P11362:p.Ser723Thr,benign
P11362:p.Asn724Lys,pathogenic
P11362:p.Cys725Tyr,pathogenic
P11362:p.Asn727His,benign
P11362:p.Glu728Asp,benign
P11362:p.His738Asn,benign
P11362:p.Val740Ile,benign
P11362:p.Pro745Ser,pathogenic
P11362:p.Asn763Ser,benign
P11362:p.Glu765Ala,benign
P11362:p.Asp768Tyr,pathogenic
P11362:p.Met771Ile,benign
P11362:p.Met771Val,benign
P11362:p.Pro772Ser,pathogenic
P11362:p.Tyr776Asp,benign
P11362:p.Ser779Gly,benign
P11362:p.Val795Ile,pathogenic
P11362:p.Glu799Asp,benign
P11362:p.Leu801Phe,benign
P11362:p.His810Pro,benign
P11362:p.His810Gln,benign
P11362:p.His810Arg,benign
P11362:p.Pro811Gln,benign
P11362:p.Pro811Ser,benign
P11362:p.Ala812Ile,benign
P11362:p.Ala812Pro,benign
P11362:p.Ala812Thr,benign
P11362:p.Gln813Pro,benign
P11362:p.Gly817Ser,benign
P11362:p.Lys820Asn,benign
P11362:p.Arg821Pro,benign
Q99972:p.Met1Leu,benign
Q99972:p.Met1Thr,benign
Q99972:p.Pro13Leu,benign
Q99972:p.Pro13Ser,benign
Q99972:p.Leu20Val,benign
Q99972:p.Cys25Arg,pathogenic
Q99972:p.Leu26Pro,benign
Q99972:p.Gln36Arg,benign
Q99972:p.Gln43Arg,benign
Q99972:p.Gln48His,pathogenic
Q99972:p.Ser52Ile,benign
Q99972:p.Val53Ala,pathogenic
Q99972:p.Ala54Val,benign
Q99972:p.His72Gln,benign
Q99972:p.His72Arg,benign
Q99972:p.Arg76Lys,benign
Q99972:p.Arg82Cys,pathogenic
Q99972:p.Leu95Val,benign
Q99972:p.Gln106Arg,benign
Q99972:p.Arg109Gly,benign
Q99972:p.Glu112Asp,benign
Q99972:p.Gln114Pro,benign
Q99972:p.Arg119Lys,benign
Q99972:p.Arg126Gln,benign
Q99972:p.Arg126Trp,pathogenic
Q99972:p.Thr135Ile,benign
Q99972:p.Ser143Asn,benign
Q99972:p.Arg147Gln,benign
Q99972:p.Arg158Gln,pathogenic
Q99972:p.Arg160Ser,benign
Q99972:p.Val177Leu,benign
Q99972:p.Thr188Ile,benign
Q99972:p.Ala194Asp,benign
Q99972:p.Glu218Lys,benign
Q99972:p.Ala224Val,benign
Q99972:p.Arg226Pro,benign
Q99972:p.Ser231Asn,benign
Q99972:p.Ser233Thr,benign
Q99972:p.Gly234Leu,benign
Q99972:p.Tyr235Ala,benign
Q99972:p.Tyr235His,benign
Q99972:p.Leu236Ser,benign
Q99972:p.Arg237Phe,benign
Q99972:p.Arg237Lys,benign
Q99972:p.Arg237Gln,benign
Q99972:p.Ser238Asn,benign
Q99972:p.Gly239Phe,benign
Q99972:p.Gly239Arg,benign
Q99972:p.Gly239Tyr,benign
Q99972:p.Glu240Phe,benign
Q99972:p.Glu240Leu,benign
Q99972:p.Gly241Asn,benign
Q99972:p.Asp242Ser,benign
Q99972:p.Thr243Asn,benign
Q99972:p.Thr243Pro,benign
Q99972:p.Cys245Tyr,pathogenic
Q99972:p.Gly246Arg,pathogenic
Q99972:p.Val251Ala,pathogenic
Q99972:p.Gly252Arg,pathogenic
Q99972:p.Glu261Lys,pathogenic
Q99972:p.Pro274Arg,pathogenic
Q99972:p.Gln282Arg,benign
Q99972:p.Trp286Arg,pathogenic
Q99972:p.Thr293Lys,pathogenic
Q99972:p.Ser305Ile,benign
Q99972:p.Glu323Lys,pathogenic
Q99972:p.Ser333Asn,benign
Q99972:p.Gln337Glu,pathogenic
Q99972:p.Gln337Arg,pathogenic
Q99972:p.Ser341Pro,pathogenic
Q99972:p.Arg342Lys,pathogenic
Q99972:p.Ile345Met,pathogenic
Q99972:p.Ile345Val,benign
Q99972:p.Lys355Arg,benign
Q99972:p.Glu357Gln,benign
Q99972:p.Ile360Asn,pathogenic
Q99972:p.Pro361Ser,pathogenic
Q99972:p.Ala363Thr,pathogenic
Q99972:p.Gly364Val,pathogenic
Q99972:p.Gly367Arg,pathogenic
Q99972:p.Phe369Leu,pathogenic
Q99972:p.Pro370Leu,pathogenic
Q99972:p.Thr377Lys,pathogenic
Q99972:p.Thr377Met,pathogenic
Q99972:p.Asp380Ala,pathogenic
Q99972:p.Asp380Gly,pathogenic
Q99972:p.Asp380His,pathogenic
Q99972:p.Asp380Asn,pathogenic
Q99972:p.Ala386Ser,benign
Q99972:p.Ser393Asn,pathogenic
Q99972:p.Ser393Arg,pathogenic
Q99972:p.Asp395Glu,benign
Q99972:p.Gly399Val,pathogenic
Q99972:p.Lys405Arg,benign
Q99972:p.Glu409Asp,benign
Q99972:p.Arg422His,pathogenic
Q99972:p.Lys423Glu,pathogenic
Q99972:p.Val426Phe,pathogenic
Q99972:p.Ala427Thr,pathogenic
Q99972:p.Cys433Arg,pathogenic
Q99972:p.Gly434Ser,pathogenic
Q99972:p.Tyr437His,pathogenic
Q99972:p.Thr438Ile,pathogenic
Q99972:p.Val439Ile,benign
Q99972:p.Thr443Ser,benign
Q99972:p.Ala445Val,pathogenic
Q99972:p.Asp446Glu,benign
Q99972:p.Thr448Pro,pathogenic
Q99972:p.Val449Ile,benign
Q99972:p.Asn450Asp,pathogenic
Q99972:p.Ile465Met,pathogenic
Q99972:p.Arg470Cys,pathogenic
Q99972:p.Arg470His,benign
Q99972:p.Ile477Asn,pathogenic
Q99972:p.Ile477Ser,pathogenic
Q99972:p.Asn480Lys,pathogenic
Q99972:p.Pro481Leu,pathogenic
Q99972:p.Pro481Thr,pathogenic
Q99972:p.Ile499Phe,pathogenic
Q99972:p.Ile499Ser,pathogenic
Q99972:p.Ser502Pro,pathogenic
Q99972:p.Met504Ile,benign
O60313:p.Met1Leu,benign
O60313:p.Met1Val,benign
O60313:p.Arg3Gly,benign
O60313:p.Arg3Leu,benign
O60313:p.Leu4Ala,benign
O60313:p.Leu4Phe,benign
O60313:p.Leu4Val,benign
O60313:p.Arg5Cys,benign
O60313:p.Arg5Gly,benign
O60313:p.Arg5His,benign
O60313:p.Arg6Gln,benign
O60313:p.Ala7Thr,benign
O60313:p.Ala7Val,benign
O60313:p.Ala8Cys,benign
O60313:p.Ala8Ser,pathogenic
O60313:p.Ala8Thr,benign
O60313:p.Val9Leu,benign
O60313:p.Ala10Cys,benign
O60313:p.Ala10Pro,benign
O60313:p.Ala10Thr,benign
O60313:p.Cys11Ser,benign
O60313:p.Cys11Tyr,benign
O60313:p.Glu12Gly,benign
O60313:p.Gln15His,benign
O60313:p.Gln15Arg,benign
O60313:p.Ser16Ala,benign
O60313:p.Ser16Tyr,benign
O60313:p.Lys19Asn,benign
O60313:p.Lys19Arg,benign
O60313:p.His20Leu,benign
O60313:p.His20Arg,benign
O60313:p.His20Tyr,benign
O60313:p.Ser21Gly,benign
O60313:p.Ser21Asn,benign
O60313:p.Ser22Cys,benign
O60313:p.Ser22Pro,benign
O60313:p.Gly23Glu,benign
O60313:p.Gly23Arg,benign
O60313:p.Ile24Met,benign
O60313:p.Ile24Thr,benign
O60313:p.Ile24Val,benign
O60313:p.Lys25Gln,benign
O60313:p.Lys25Arg,benign
O60313:p.Gly26Arg,benign
O60313:p.Ser27Gly,benign
O60313:p.Ser27Asn,benign
O60313:p.Ser27Arg,benign
O60313:p.Ser27Thr,benign
O60313:p.Leu28Phe,benign
O60313:p.Leu28Ile,benign
O60313:p.Leu28Ser,benign
O60313:p.Leu28Val,benign
O60313:p.Pro29Ser,benign
O60313:p.Leu30Phe,benign
O60313:p.Leu33Val,benign
O60313:p.Leu35Val,benign
O60313:p.Val36Ala,benign
O60313:p.Val36Gly,benign
O60313:p.Val36Ile,benign
O60313:p.Ser39Asn,benign
O60313:p.Ile40Gly,benign
O60313:p.Ile40Leu,benign
O60313:p.Ile40Asn,benign
O60313:p.Ile40Thr,benign
O60313:p.Ile40Val,benign
O60313:p.Tyr41Ser,benign
O60313:p.His42Cys,benign
O60313:p.His42Asn,benign
O60313:p.His42Gln,benign
O60313:p.His42Arg,benign
O60313:p.Ser43Leu,benign
O60313:p.Ser43Thr,benign
O60313:p.Ser43Trp,benign
O60313:p.His44Cys,benign
O60313:p.His44Arg,benign
O60313:p.His45Leu,benign
O60313:p.His45Arg,benign
O60313:p.His45Tyr,benign
O60313:p.Pro46Thr,benign
O60313:p.Thr47Ala,benign
O60313:p.Thr47Ile,benign
O60313:p.Thr47Ser,benign
O60313:p.Leu48Ile,benign
O60313:p.Leu48Ser,benign
O60313:p.Leu50Phe,benign
O60313:p.Gln51Arg,benign
O60313:p.Pro53Leu,benign
O60313:p.Pro53Thr,benign
O60313:p.Gln54His,benign
O60313:p.Leu55Phe,benign
O60313:p.Leu55Ile,benign
O60313:p.Leu55Pro,benign
O60313:p.Leu55Gln,benign
O60313:p.Arg56Lys,benign
O60313:p.Thr57Ala,benign
O60313:p.Thr57Met,benign
O60313:p.Ser58Pro,benign
O60313:p.Ser58Thr,benign
O60313:p.Phe59Cys,benign
O60313:p.Phe59Leu,benign
O60313:p.Phe59Tyr,benign
O60313:p.Gln60His,benign
O60313:p.Gln61His,benign
O60313:p.Gln61Leu,benign
O60313:p.Gln61Pro,benign
O60313:p.Phe62Leu,benign
O60313:p.Ser64Thr,benign
O60313:p.Thr66Ser,benign
O60313:p.Asn67His,benign
O60313:p.Asn67Ser,benign
O60313:p.Leu68Phe,benign
O60313:p.Leu68His,benign
O60313:p.Leu68Pro,benign
O60313:p.Pro69Ser,benign
O60313:p.Pro69Thr,benign
O60313:p.Arg71Cys,benign
O60313:p.Arg71His,benign
O60313:p.Arg71Tyr,benign
O60313:p.Leu73Ser,benign
O60313:p.Phe75Ile,benign
O60313:p.Phe75Leu,benign
O60313:p.Phe75Val,benign
O60313:p.Ser76Cys,benign
O60313:p.Ile78Ala,benign
O60313:p.Ile78Lys,benign
O60313:p.Ile78Met,benign
O60313:p.Ile78Thr,benign
O60313:p.Ile78Val,benign
O60313:p.Tyr80Cys,pathogenic
O60313:p.Gly81Asp,benign
O60313:p.Gln83Leu,benign
O60313:p.Arg85Cys,benign
O60313:p.Arg85His,benign
O60313:p.Arg85Tyr,benign
O60313:p.Asn87His,benign
O60313:p.Asn87Tyr,benign
O60313:p.Leu93Val,benign
O60313:p.Thr95Ala,benign
O60313:p.Thr95Met,pathogenic
O60313:p.Thr95Ser,benign
O60313:p.Lys99Arg,benign
O60313:p.Tyr102Cys,pathogenic
O60313:p.Leu103Ile,benign
O60313:p.Ile104Val,benign
O60313:p.Leu105Val,benign
O60313:p.Lys117Gln,benign
O60313:p.Gln121Glu,benign
O60313:p.Ile126Leu,benign
O60313:p.Ile126Val,benign
O60313:p.Leu129Phe,benign
O60313:p.Ser130Asn,benign
O60313:p.Glu131Asp,benign
O60313:p.Ile139Phe,benign
O60313:p.Val140Ile,benign
O60313:p.Glu145Asp,benign
O60313:p.Phe149Ile,benign
O60313:p.Phe149Leu,benign
O60313:p.Phe149Trp,benign
O60313:p.Glu150Asp,benign
O60313:p.Glu150His,benign
O60313:p.Ile152Leu,benign
O60313:p.Arg153Ile,benign
O60313:p.Arg153Lys,benign
O60313:p.Arg153Thr,benign
O60313:p.Arg153Val,benign
O60313:p.Lys154Asn,benign
O60313:p.Lys154Ser,benign
O60313:p.Ala155Glu,benign
O60313:p.Ala155Ser,benign
O60313:p.Ala155Thr,benign
O60313:p.Leu156Val,benign
O60313:p.Pro157Ile,benign
O60313:p.Ser158Asp,benign
O60313:p.Ser158Gly,benign
O60313:p.Ser158Asn,benign
O60313:p.Ser158Thr,benign
O60313:p.Ser159Ala,benign
O60313:p.Ser159Pro,benign
O60313:p.Glu160Ser,benign
O60313:p.Leu162Phe,benign
O60313:p.Val163Ala,benign
O60313:p.Val163Leu,benign
O60313:p.Val163Thr,benign
O60313:p.Lys164Leu,benign
O60313:p.Lys164Asn,benign
O60313:p.Lys164Ser,benign
O60313:p.Leu165Phe,benign
O60313:p.Leu165Val,benign
O60313:p.Ala166Leu,benign
O60313:p.Ala166Thr,benign
O60313:p.Ala166Val,benign
O60313:p.Phe169Leu,benign
O60313:p.Phe169Met,benign
O60313:p.Ile172Leu,benign
O60313:p.Ile172Val,benign
O60313:p.Val173Ala,benign
O60313:p.Val173Ile,benign
O60313:p.Val173Leu,benign
O60313:p.Val173Thr,benign
O60313:p.Glu174Asp,benign
O60313:p.Ser175Asn,benign
O60313:p.Leu176Phe,benign
O60313:p.Ser177Asn,benign
O60313:p.Leu178Ile,benign
O60313:p.Leu179Val,benign
O60313:p.Asp181Gly,benign
O60313:p.Asp181Ser,benign
O60313:p.Phe182Leu,benign
O60313:p.Phe182Val,benign
O60313:p.Ser185Ala,benign
O60313:p.Ser185Thr,benign
O60313:p.Gly186Arg,benign
O60313:p.Ser187Thr,benign
O60313:p.Pro188Leu,benign
O60313:p.Pro188Ser,benign
O60313:p.Glu189Gly,benign
O60313:p.Glu190Asp,benign
O60313:p.Ala192Thr,benign
O60313:p.Asp197Glu,benign
O60313:p.Arg198His,benign
O60313:p.Arg198Pro,benign
O60313:p.Ser200Pro,benign
O60313:p.Ser202Gly,benign
O60313:p.Ser202Asn,benign
O60313:p.His205Leu,benign
O60313:p.His205Pro,benign
O60313:p.His205Arg,benign
O60313:p.Phe206Tyr,benign
O60313:p.Ser210Thr,benign
O60313:p.His224Arg,benign
O60313:p.Leu246Ile,benign
O60313:p.Val247Leu,benign
O60313:p.Arg258Ser,benign
O60313:p.Glu270Lys,pathogenic
O60313:p.Leu272Pro,pathogenic
O60313:p.Asp273Ala,pathogenic
O60313:p.His287Ser,benign
O60313:p.Leu288Thr,benign
O60313:p.Pro289Thr,benign
O60313:p.Arg290Asp,benign
O60313:p.Arg290Gln,pathogenic
O60313:p.Arg290Trp,pathogenic
O60313:p.Val292Ile,benign
O60313:p.Gly300Glu,pathogenic
O60313:p.Gln310Arg,pathogenic
O60313:p.Lys328Glu,benign
O60313:p.Thr330Ser,pathogenic
O60313:p.Glu347Gln,benign
O60313:p.Glu353Asp,benign
O60313:p.Ala357Thr,pathogenic
O60313:p.His361Arg,benign
O60313:p.Leu365Ile,benign
O60313:p.Asn370Ser,benign
O60313:p.Lys372Thr,benign
O60313:p.Glu373Asp,benign
O60313:p.Cys375Ala,benign
O60313:p.Cys375Tyr,benign
O60313:p.Val377Ile,pathogenic
O60313:p.Pro379Ser,benign
O60313:p.Thr381Lys,benign
O60313:p.Ile382Met,pathogenic
O60313:p.Leu384Phe,pathogenic
O60313:p.Leu396Pro,pathogenic
O60313:p.Leu396Arg,pathogenic
O60313:p.Pro400Ala,pathogenic
O60313:p.Asn404Ser,benign
O60313:p.Ser408Ala,benign
O60313:p.Thr417Ile,benign
O60313:p.Thr417Met,benign
O60313:p.Ile421Met,benign
O60313:p.Asn430Asp,pathogenic
O60313:p.Asp438Val,pathogenic
O60313:p.Gly439Val,pathogenic
O60313:p.Arg445His,pathogenic
O60313:p.Thr449Pro,pathogenic
O60313:p.Thr449Arg,pathogenic
O60313:p.Gly459Glu,pathogenic
O60313:p.Arg460Lys,benign
O60313:p.Lys468Glu,pathogenic
O60313:p.Asp470Gly,pathogenic
O60313:p.Asn475His,benign
O60313:p.Ala477Thr,benign
O60313:p.Ser480Asn,benign
O60313:p.Glu487Lys,pathogenic
O60313:p.Thr503Lys,pathogenic
O60313:p.Lys505Asn,pathogenic
O60313:p.Asn507Ser,benign
O60313:p.Ser509Ala,benign
O60313:p.Ser511Asn,benign
O60313:p.Glu513Asp,benign
O60313:p.Arg516Lys,benign
O60313:p.Glu517Asp,benign
O60313:p.Gln524Glu,benign
O60313:p.Asn525Ser,benign
O60313:p.Lys527Asn,benign
O60313:p.Lys527Arg,benign
O60313:p.Thr531Ala,benign
O60313:p.Ser545Arg,pathogenic
O60313:p.Cys551Tyr,pathogenic
O60313:p.Arg571His,pathogenic
O60313:p.Leu574Pro,pathogenic
O60313:p.Tyr582Cys,pathogenic
O60313:p.Arg590Gln,pathogenic
O60313:p.Arg590Trp,pathogenic
O60313:p.Leu593Pro,pathogenic
O60313:p.Val611Ala,benign
O60313:p.Ser623Thr,benign
O60313:p.Glu626Lys,benign
O60313:p.Arg627Lys,benign
O60313:p.Val628Leu,benign
O60313:p.Thr630Ser,benign
O60313:p.His631Asn,benign
O60313:p.Met644Leu,benign
O60313:p.Ser646Leu,pathogenic
O60313:p.Thr648Ile,benign
O60313:p.Lys668Arg,benign
O60313:p.Glu679Asp,benign
O60313:p.Glu679Gly,benign
O60313:p.Arg683His,benign
O60313:p.Ser708Thr,benign
O60313:p.Ile709Val,benign
O60313:p.Phe717Cys,benign
O60313:p.Arg723Glu,benign
O60313:p.Asn728Lys,pathogenic
O60313:p.Asp732Glu,benign
O60313:p.Tyr746Phe,benign
O60313:p.Tyr746Ser,benign
O60313:p.Ala754Gly,benign
O60313:p.Lys757Gln,benign
O60313:p.Lys757Arg,benign
O60313:p.Asn761Asp,benign
O60313:p.Asn761Ser,benign
O60313:p.Asn765Asp,benign
O60313:p.Val767Ile,benign
O60313:p.Gly768Asp,pathogenic
O60313:p.Leu776Ile,benign
O60313:p.Leu776Met,benign
O60313:p.Tyr777His,benign
O60313:p.Lys779Met,benign
O60313:p.Arg781Trp,pathogenic
O60313:p.Gln785Glu,benign
O60313:p.Gln785Arg,pathogenic
O60313:p.Cys786Phe,benign
O60313:p.Cys786Gly,benign
O60313:p.Cys786Ser,benign
O60313:p.Val787Ile,benign
O60313:p.Asn793Ser,benign
O60313:p.Cys801Val,benign
O60313:p.Asn802Ser,benign
O60313:p.Asn802Thr,benign
O60313:p.Glu803Asp,benign
O60313:p.Ser823Tyr,pathogenic
O60313:p.Glu827Ala,benign
O60313:p.Glu827Asp,benign
O60313:p.Glu827Thr,benign
O60313:p.Ser831Gly,benign
O60313:p.Tyr841Cys,pathogenic
O60313:p.Lys847Asn,benign
O60313:p.Thr848His,benign
O60313:p.Thr848Ser,benign
O60313:p.Ala849Ser,benign
O60313:p.Asn851Thr,benign
O60313:p.Val868Ile,benign
O60313:p.Arg882Leu,pathogenic
O60313:p.Leu887Pro,pathogenic
O60313:p.Ala888Gly,benign
O60313:p.Ala888Ser,benign
O60313:p.Val903Asp,benign
O60313:p.Val903Gly,benign
O60313:p.Arg904Lys,benign
O60313:p.Val910Asp,pathogenic
O60313:p.Glu919Asp,benign
O60313:p.Gly921Ser,benign
O60313:p.Gly921Thr,benign
O60313:p.Glu922Asp,benign
O60313:p.Glu922Gln,benign
O60313:p.Ile925Leu,benign
O60313:p.Ile925Met,benign
O60313:p.Ile925Val,benign
O60313:p.Lys926Gln,benign
O60313:p.Arg932Cys,pathogenic
O60313:p.Leu939Pro,pathogenic
O60313:p.Lys940Ser,benign
O60313:p.Val942Leu,benign
O60313:p.Arg943Gln,benign
O60313:p.Glu944Gly,benign
O60313:p.Gln946Lys,benign
O60313:p.Glu947Lys,benign
O60313:p.Leu949Ala,benign
O60313:p.Leu949Pro,pathogenic
O60313:p.Phe952Ile,benign
O60313:p.Glu954Asn,benign
O60313:p.Ala955Lys,benign
O60313:p.His957Glu,benign
O60313:p.Gln958Lys,benign
O60313:p.Gln958Arg,benign
O60313:p.Glu959Ser,benign
O60313:p.Lys960Ser,benign
P43246:p.Met1Gln,benign
P43246:p.Ala2Ser,benign
P43246:p.Ala2Thr,pathogenic
P43246:p.Gln4Leu,benign
P43246:p.Lys6Glu,benign
P43246:p.Glu7Asp,benign
P43246:p.Gln10Arg,benign
P43246:p.Glu12Asp,benign
P43246:p.Ser13Gly,benign
P43246:p.Ala14Phe,benign
P43246:p.Ala14Gly,benign
P43246:p.Val17Ala,benign
P43246:p.Val17Ile,benign
P43246:p.Gly25Ala,benign
P43246:p.Gly25Ser,benign
P43246:p.Gly25Thr,benign
P43246:p.Thr33Pro,pathogenic
P43246:p.Thr44Met,pathogenic
P43246:p.Ala45Val,pathogenic
P43246:p.His46Gln,pathogenic
P43246:p.Gly47His,benign
P43246:p.Gly47Gln,benign
P43246:p.Gly47Arg,benign
P43246:p.Leu51Val,benign
P43246:p.Ile64Leu,benign
P43246:p.Ile64Val,benign
P43246:p.Tyr66Phe,benign
P43246:p.Met67Ile,benign
P43246:p.Met67Leu,benign
P43246:p.Pro69Ala,benign
P43246:p.Ala70Pro,benign
P43246:p.Ala70Thr,benign
P43246:p.Gly71Lys,benign
P43246:p.Ala72Thr,benign
P43246:p.Asn74Asp,benign
P43246:p.Asn74Ser,benign
P43246:p.Asn74Thr,benign
P43246:p.Leu75Val,benign
P43246:p.Gln76Glu,benign
P43246:p.Leu93Phe,pathogenic
P43246:p.Val95Ile,benign
P43246:p.Val102Ile,pathogenic
P43246:p.Tyr103Phe,benign
P43246:p.Asn109Ser,benign
P43246:p.Lys110Thr,pathogenic
P43246:p.Asn115His,benign
P43246:p.Tyr121Phe,benign
P43246:p.Pro125Ile,benign
P43246:p.Gly126Ile,benign
P43246:p.Asn127Ser,pathogenic
P43246:p.Asn127Thr,benign
P43246:p.Leu128Phe,benign
P43246:p.Ser129Ala,benign
P43246:p.Ser129Ile,benign
P43246:p.Gln130Glu,benign
P43246:p.Glu132Gly,benign
P43246:p.Asp133Phe,benign
P43246:p.Ile134Phe,benign
P43246:p.Gly137Ala,benign
P43246:p.Asn138Ala,benign
P43246:p.Asn138Tyr,benign
P43246:p.Asn139Lys,benign
P43246:p.Asn139Ser,pathogenic
P43246:p.Asp140Ile,benign
P43246:p.Asp140Asn,benign
P43246:p.Met141Leu,benign
P43246:p.Met141Thr,benign
P43246:p.Ser142Lys,benign
P43246:p.Ser142Gln,benign
P43246:p.Ala143Ser,benign
P43246:p.Ala143Thr,benign
P43246:p.Ser144Pro,benign
P43246:p.Ile145Met,pathogenic
P43246:p.Val150Ile,benign
P43246:p.Lys151Arg,benign
P43246:p.Met152Ile,benign
P43246:p.Ala154Thr,benign
P43246:p.Val161Asp,pathogenic
P43246:p.Val161Ile,benign
P43246:p.Gly162Ala,pathogenic
P43246:p.Gly162Arg,pathogenic
P43246:p.Val163Asp,pathogenic
P43246:p.Val163Gly,pathogenic
P43246:p.Gly164Arg,pathogenic
P43246:p.Asp167His,pathogenic
P43246:p.Ser168Ala,benign
P43246:p.Ser168Thr,benign
P43246:p.Ile169Thr,benign
P43246:p.Ile169Val,benign
P43246:p.Arg171Lys,benign
P43246:p.Leu173Pro,pathogenic
P43246:p.Leu175Pro,pathogenic
P43246:p.Phe184Leu,benign
P43246:p.Leu187Pro,pathogenic
P43246:p.Glu198Gly,pathogenic
P43246:p.Val200Ile,benign
P43246:p.Leu201Ile,benign
P43246:p.Leu201Met,benign
P43246:p.Glu205Asp,benign
P43246:p.Thr206Ala,benign
P43246:p.Asp209Glu,benign
P43246:p.Met210Val,benign
P43246:p.Ile216Val,benign
P43246:p.Arg227Lys,benign
P43246:p.Lys229Arg,benign
P43246:p.Ala230Gly,benign
P43246:p.Ala230Thr,benign
P43246:p.Ser233Phe,benign
P43246:p.Ser233Asn,benign
P43246:p.Gln252Pro,benign
P43246:p.Met253Leu,benign
P43246:p.Met253Val,benign
P43246:p.Ala256Thr,benign
P43246:p.Val267Ala,benign
P43246:p.Ser268Cys,benign
P43246:p.Ser269Ala,benign
P43246:p.Ser271Cys,benign
P43246:p.Val273Ile,benign
P43246:p.Ser281Ala,benign
P43246:p.Asp283Tyr,pathogenic
P43246:p.Asn285Ser,benign
P43246:p.Phe289Tyr,benign
P43246:p.Thr292Ala,benign
P43246:p.Lys301Arg,benign
P43246:p.Ile304Met,benign
P43246:p.Ala305Thr,pathogenic
P43246:p.Ala309Gly,benign
P43246:p.Thr321Ala,benign
P43246:p.Thr321Ser,benign
P43246:p.Ser323Cys,benign
P43246:p.Cys333Tyr,pathogenic
P43246:p.Pro336Ser,pathogenic
P43246:p.Pro349Leu,pathogenic
P43246:p.Met351Leu,benign
P43246:p.Asn354Lys,benign
P43246:p.Arg359Ser,pathogenic
P43246:p.Ala370Pro,benign
P43246:p.Arg373Ser,benign
P43246:p.Thr375Asn,benign
P43246:p.Thr375Ser,benign
P43246:p.Arg389Lys,benign
P43246:p.Lys393Met,pathogenic
P43246:p.Gln395Leu,benign
P43246:p.Arg406Lys,benign
P43246:p.Gln419His,benign
P43246:p.Gln419Arg,benign
P43246:p.Leu421Met,benign
P43246:p.His424Tyr,benign
P43246:p.Glu425Gly,benign
P43246:p.Lys427Asn,benign
P43246:p.Lys427Gln,benign
P43246:p.His428Lys,benign
P43246:p.Lys430Ala,benign
P43246:p.Lys430Gly,benign
P43246:p.Lys430Arg,benign
P43246:p.Lys430Ser,benign
P43246:p.Lys430Thr,benign
P43246:p.Lys430Val,benign
P43246:p.Leu432Phe,benign
P43246:p.Leu433Ser,benign
P43246:p.Val437Ala,benign
P43246:p.Leu440Phe,benign
P43246:p.Thr441Ile,benign
P43246:p.Met453Val,benign
P43246:p.Ile484Val,benign
P43246:p.Asn486Asp,benign
P43246:p.Asp487Gly,benign
P43246:p.Met492Ile,benign
P43246:p.Met492Val,pathogenic
P43246:p.Ile497Val,benign
P43246:p.Asp502Glu,benign
P43246:p.Asp506Glu,benign
P43246:p.Ser516Asn,benign
P43246:p.Ala517Thr,benign
P43246:p.Arg524Pro,pathogenic
P43246:p.Thr552Pro,pathogenic
P43246:p.Thr557Ala,benign
P43246:p.Thr557Ser,benign
P43246:p.Leu559Phe,benign
P43246:p.Glu562Val,pathogenic
P43246:p.Thr564Ser,benign
P43246:p.Lys567Arg,benign
P43246:p.Thr568Ala,benign
P43246:p.Glu572Asp,benign
P43246:p.Asp575Asn,benign
P43246:p.Asn583Ser,pathogenic
P43246:p.Leu595Phe,benign
P43246:p.Ala600Val,pathogenic
P43246:p.Asp603Asn,pathogenic
P43246:p.Val611Ala,benign
P43246:p.Asn613Asp,benign
P43246:p.Gly614Ala,benign
P43246:p.Pro622Leu,pathogenic
P43246:p.Ala623Val,benign
P43246:p.Glu626Gly,benign
P43246:p.Glu626Gln,benign
P43246:p.Gln629Lys,benign
P43246:p.Gln629Arg,benign
P43246:p.Gly630Arg,benign
P43246:p.Arg631Lys,benign
P43246:p.Ile633Met,benign
P43246:p.Ile633Thr,benign
P43246:p.Lys635Arg,benign
P43246:p.Ala636Pro,pathogenic
P43246:p.His639Arg,pathogenic
P43246:p.His639Tyr,pathogenic
P43246:p.Ala640Pro,benign
P43246:p.Val644Ile,benign
P43246:p.Glu647Lys,pathogenic
P43246:p.Ile648Val,benign
P43246:p.Ala649Thr,benign
P43246:p.Val655Ile,benign
P43246:p.Tyr656His,pathogenic
P43246:p.Asp660Gly,pathogenic
P43246:p.Asp660Asn,benign
P43246:p.Met663Val,benign
P43246:p.Gly669Arg,pathogenic
P43246:p.Gly674Arg,pathogenic
P43246:p.Gly674Ser,pathogenic
P43246:p.Ile679Thr,pathogenic
P43246:p.Ile685Val,benign
P43246:p.Met688Ile,pathogenic
P43246:p.Gly692Arg,pathogenic
P43246:p.Cys697Phe,pathogenic
P43246:p.Cys697Arg,pathogenic
P43246:p.Ser699Trp,benign
P43246:p.Val702Leu,benign
P43246:p.Ser703Thr,benign
P43246:p.Ile704Met,benign
P43246:p.Ser723Phe,pathogenic
P43246:p.Met729Val,pathogenic
P43246:p.Thr732Ile,pathogenic
P43246:p.Lys741Gln,benign
P43246:p.Glu749Lys,pathogenic
P43246:p.Ser767Pro,benign
P43246:p.Glu768Asp,benign
P43246:p.Thr772Ala,benign
P43246:p.Lys773Arg,benign
P43246:p.Ile774Val,benign
P43246:p.Gly775Arg,benign
P43246:p.Asn792Lys,benign
P43246:p.Pro795Ala,benign
P43246:p.Thr796Ala,benign
P43246:p.Thr803Ala,benign
P43246:p.Glu808Gln,benign
P43246:p.Glu809Asp,benign
P43246:p.Met813Val,pathogenic
P43246:p.Val821Ala,benign
P43246:p.Val821Ile,benign
P43246:p.Ala834Thr,pathogenic
P43246:p.Lys838Arg,benign
P43246:p.His839Arg,pathogenic
P43246:p.Lys845Glu,pathogenic
P43246:p.Lys845Arg,benign
P43246:p.Leu849Met,benign
P43246:p.Tyr856Asn,benign
P43246:p.Glu859Ala,benign
P43246:p.Glu859Gly,benign
P43246:p.Glu859Lys,benign
P43246:p.Glu859Val,benign
P43246:p.Ser860Ala,benign
P43246:p.Ser860Pro,benign
P43246:p.Gly862Asp,benign
P43246:p.Gly862Glu,benign
P43246:p.Gly862Asn,benign
P43246:p.Tyr863Cys,benign
P43246:p.Tyr863Gly,benign
P43246:p.Tyr863His,benign
P43246:p.Met866Thr,benign
P43246:p.Lys872Arg,benign
P43246:p.Tyr874Cys,benign
P43246:p.Tyr874Phe,benign
P43246:p.Gln879Glu,benign
P43246:p.Gly880Asn,benign
P43246:p.Glu881Leu,benign
P43246:p.Lys882Arg,benign
P43246:p.Ile883Val,benign
P43246:p.Ile884Thr,benign
P43246:p.Gln885Glu,benign
P43246:p.Glu886Gly,pathogenic
P43246:p.Glu886Pro,benign
P43246:p.Phe887Ile,benign
P43246:p.Leu888Val,benign
P43246:p.Ser889Leu,benign
P43246:p.Ser889Tyr,benign
P43246:p.Lys890Glu,benign
P43246:p.Lys890Thr,benign
P43246:p.Val891Trp,benign
P43246:p.Lys892Cys,benign
P43246:p.Gln893Arg,benign
P43246:p.Met894Phe,benign
P43246:p.Met894Ile,benign
P43246:p.Met894Lys,benign
P43246:p.Met894Val,benign
P43246:p.Pro895Leu,benign
P43246:p.Pro895Val,benign
P43246:p.Phe896Arg,benign
P43246:p.Thr897Ala,benign
P43246:p.Thr897Gly,benign
P43246:p.Glu898Lys,benign
P43246:p.Met899Ile,benign
P43246:p.Met899Arg,benign
P43246:p.Glu901Ala,benign
P43246:p.Glu902Cys,benign
P43246:p.Asn903Asp,benign
P43246:p.Asn903Ser,benign
P43246:p.Ile904Arg,benign
P43246:p.Ile904Val,benign
P43246:p.Thr905Lys,benign
P43246:p.Thr905Pro,benign
P43246:p.Thr905Val,benign
P43246:p.Ile906Glu,benign
P43246:p.Ile906Lys,benign
P43246:p.Ile906Leu,benign
P43246:p.Ile906Met,benign
P43246:p.Ile906Arg,benign
P43246:p.Lys907Arg,benign
P43246:p.Leu908Gln,benign
P43246:p.Lys909Asn,benign
P43246:p.Leu911Gly,benign
P43246:p.Lys912Ser,benign
P43246:p.Ala913Gly,benign
P43246:p.Val915Leu,benign
P43246:p.Ile916Met,benign
P43246:p.Ser921Cys,benign
P43246:p.Ser921Arg,benign
P43246:p.Ile926Ser,benign
P43246:p.Ile926Val,benign
P43246:p.Ile930Thr,benign
P43246:p.Ile930Val,benign
P43246:p.Lys931Thr,pathogenic
P43246:p.Thr933Ser,benign
P43246:p.Thr934Ala,benign
Q06187:p.Ala3Ser,benign
Q06187:p.Ala3Thr,benign
Q06187:p.Leu11Pro,pathogenic
Q06187:p.Lys12Arg,pathogenic
Q06187:p.Ser14Phe,pathogenic
Q06187:p.Lys17Glu,benign
Q06187:p.Lys19Glu,pathogenic
Q06187:p.Phe25Ser,pathogenic
Q06187:p.Lys27Arg,pathogenic
Q06187:p.Arg28Cys,pathogenic
Q06187:p.Arg28His,pathogenic
Q06187:p.Arg28Pro,pathogenic
Q06187:p.Thr33Pro,pathogenic
Q06187:p.Val34Ala,benign
Q06187:p.Val34Gly,benign
Q06187:p.Val34Leu,benign
Q06187:p.Val34Met,benign
Q06187:p.His35Glu,benign
Q06187:p.His35Asn,benign
Q06187:p.His35Gln,benign
Q06187:p.Lys36Arg,benign
Q06187:p.Tyr39Ser,pathogenic
Q06187:p.Tyr40Cys,pathogenic
Q06187:p.Tyr40Asn,pathogenic
Q06187:p.Glu45Asp,benign
Q06187:p.Arg48Lys,benign
Q06187:p.Arg49Lys,benign
Q06187:p.Ile56Val,benign
Q06187:p.Val58Ile,benign
Q06187:p.Ile61Asn,pathogenic
Q06187:p.Val64Asp,pathogenic
Q06187:p.Val64Phe,pathogenic
Q06187:p.Val68Ile,benign
Q06187:p.Arg77Met,benign
Q06187:p.Pro80Leu,benign
Q06187:p.Arg81Pro,benign
Q06187:p.Arg81Val,benign
Q06187:p.Gly83Arg,benign
Q06187:p.Glu84Asp,benign
Q06187:p.Glu84Lys,benign
Q06187:p.Glu85Asp,benign
Q06187:p.Ser86Ala,benign
Q06187:p.Ser86Cys,benign
Q06187:p.Ser86Glu,benign
Q06187:p.Ser87Gly,benign
Q06187:p.Ser87Asn,benign
Q06187:p.Ser87Arg,benign
Q06187:p.Met89Ile,benign
Q06187:p.Met89Thr,benign
Q06187:p.Glu90Gly,benign
Q06187:p.Glu90Gln,benign
Q06187:p.Gln91Ile,benign
Q06187:p.Ile92Gln,benign
Q06187:p.Ser93Arg,benign
Q06187:p.Ile94His,benign
Q06187:p.Ile94Asn,benign
Q06187:p.Ile95Leu,benign
Q06187:p.Arg97Leu,benign
Q06187:p.Pro99Lys,benign
Q06187:p.Phe102Cys,benign
Q06187:p.Gln103Lys,benign
Q06187:p.Val105Met,benign
Q06187:p.Val105Ser,benign
Q06187:p.Tyr106Phe,benign
Q06187:p.Asp107Ala,benign
Q06187:p.Asp107Phe,benign
Q06187:p.Glu108Leu,benign
Q06187:p.Gly109Ala,benign
Q06187:p.Gly109Ser,benign
Q06187:p.Pro110Ser,benign
Q06187:p.Leu111Thr,benign
Q06187:p.Tyr112Cys,benign
Q06187:p.Tyr112Leu,benign
Q06187:p.Val113Asp,pathogenic
Q06187:p.Val113Glu,benign
Q06187:p.Val113Leu,benign
Q06187:p.Ser115Phe,pathogenic
Q06187:p.Ser115Arg,benign
Q06187:p.Thr117Leu,benign
Q06187:p.Thr117Asn,benign
Q06187:p.Thr117Pro,pathogenic
Q06187:p.Glu119Asp,benign
Q06187:p.Glu119His,benign
Q06187:p.Leu120Asn,benign
Q06187:p.Arg121Gln,benign
Q06187:p.Arg123Gly,benign
Q06187:p.Ile125Cys,benign
Q06187:p.His126Arg,benign
Q06187:p.Gln127Glu,benign
Q06187:p.Gln127His,pathogenic
Q06187:p.Leu128Phe,benign
Q06187:p.Asn130Ser,benign
Q06187:p.Val131Ile,benign
Q06187:p.Tyr134Cys,benign
Q06187:p.Ser136Asn,benign
Q06187:p.Val139Ala,benign
Q06187:p.Gln140Glu,benign
Q06187:p.Cys154Ser,pathogenic
Q06187:p.Cys155Gly,pathogenic
Q06187:p.Cys155Arg,pathogenic
Q06187:p.Met163Leu,benign
Q06187:p.Pro177Ser,benign
Q06187:p.Thr184Pro,pathogenic
Q06187:p.Pro190Arg,benign
Q06187:p.Thr191Ile,benign
Q06187:p.Glu193Val,benign
Q06187:p.Gln196Glu,benign
Q06187:p.Gln196Leu,benign
Q06187:p.Ile197Phe,benign
Q06187:p.Ile197Val,benign
Q06187:p.Leu198Tyr,benign
Q06187:p.Lys199Arg,benign
Q06187:p.Lys200Glu,benign
Q06187:p.Pro203Thr,benign
Q06187:p.Pro204Gly,benign
Q06187:p.Ala207Pro,benign
Q06187:p.Ala207Arg,benign
Q06187:p.Ala207Thr,benign
Q06187:p.Ala209Ile,benign
Q06187:p.Ala209Pro,benign
Q06187:p.Ala209Thr,benign
Q06187:p.Ala209Val,benign
Q06187:p.Pro210Leu,benign
Q06187:p.Pro210Gln,benign
Q06187:p.Pro210Ser,benign
Q06187:p.Val211Ala,benign
Q06187:p.Val211Gly,benign
Q06187:p.Val211Ile,benign
Q06187:p.Val211Met,benign
Q06187:p.Ser212Ala,benign
Q06187:p.Ser212Cys,benign
Q06187:p.Ser212Pro,benign
Q06187:p.Thr213Ala,benign
Q06187:p.Thr213Pro,benign
Q06187:p.Thr213Ser,benign
Q06187:p.Ser214Gly,benign
Q06187:p.Ser214Asn,benign
Q06187:p.Ser214Thr,benign
Q06187:p.Glu215Ala,benign
Q06187:p.Leu216Met,benign
Q06187:p.Met226Leu,benign
Q06187:p.Met226Thr,benign
Q06187:p.Met228Val,benign
Q06187:p.Gln234Leu,benign
Q06187:p.Arg236His,benign
Q06187:p.Arg236Gln,benign
Q06187:p.Gly238Ser,benign
Q06187:p.Asp239Glu,benign
Q06187:p.Asp239Asn,benign
Q06187:p.Glu240Ala,benign
Q06187:p.Phe242Tyr,benign
Q06187:p.Glu246Gln,benign
Q06187:p.Ser247Asn,benign
Q06187:p.Asn248His,benign
Q06187:p.Arg255Gln,benign
Q06187:p.Asn258Ser,benign
Q06187:p.Gln260Glu,benign
Q06187:p.Gln260Lys,benign
Q06187:p.Ser266Asn,benign
Q06187:p.Val269Ile,benign
Q06187:p.Ala272Glu,benign
Q06187:p.Asp274Asn,benign
Q06187:p.Arg288Gln,pathogenic
Q06187:p.Arg288Trp,pathogenic
Q06187:p.Ser289Asn,benign
Q06187:p.Ser289Arg,benign
Q06187:p.Gln293Glu,benign
Q06187:p.Leu295Pro,pathogenic
Q06187:p.Gln297Glu,benign
Q06187:p.Gly302Glu,pathogenic
Q06187:p.Gly302Arg,pathogenic
Q06187:p.Arg307Gly,pathogenic
Q06187:p.Arg307Thr,pathogenic
Q06187:p.Asp308Glu,pathogenic
Q06187:p.Lys314Arg,benign
Q06187:p.Val319Ala,pathogenic
Q06187:p.Ser323Ala,benign
Q06187:p.Thr324Ala,benign
Q06187:p.Thr324Ile,benign
Q06187:p.Asp326Glu,benign
Q06187:p.Pro327Cys,benign
Q06187:p.Pro327Ser,benign
Q06187:p.Tyr334Ser,pathogenic
Q06187:p.Ser342Asn,benign
Q06187:p.Leu358Phe,pathogenic
Q06187:p.Tyr361Cys,pathogenic
Q06187:p.His362Gln,pathogenic
Q06187:p.His364Pro,pathogenic
Q06187:p.Asn365Tyr,pathogenic
Q06187:p.Ser366Phe,pathogenic
Q06187:p.Leu369Phe,pathogenic
Q06187:p.Leu369Thr,benign
Q06187:p.Ile370Met,pathogenic
Q06187:p.Ile370Val,benign
Q06187:p.Ser371Lys,benign
Q06187:p.Arg372Gly,pathogenic
Q06187:p.Arg372Ile,benign
Q06187:p.Tyr375Thr,benign
Q06187:p.Pro376Glu,benign
Q06187:p.Val377Arg,benign
Q06187:p.Gln379Lys,benign
Q06187:p.Gln379Val,benign
Q06187:p.Gln380Lys,benign
Q06187:p.Gln380Arg,benign
Q06187:p.Asn381Ala,benign
Q06187:p.Lys382Arg,benign
Q06187:p.Lys382Trp,benign
Q06187:p.Asn383Ile,benign
Q06187:p.Ala384Trp,benign
Q06187:p.Pro385Gly,benign
Q06187:p.Ser386Lys,benign
Q06187:p.Ala388Ser,benign
Q06187:p.Gly389Ser,benign
Q06187:p.Leu390Arg,benign
Q06187:p.Gly391Arg,benign
Q06187:p.Tyr392Leu,benign
Q06187:p.Lys400Thr,benign
Q06187:p.Leu408Pro,pathogenic
Q06187:p.Thr410Ala,benign
Q06187:p.Gly414Arg,pathogenic
Q06187:p.Tyr418His,pathogenic
Q06187:p.Gln424Arg,benign
Q06187:p.Asp426Glu,benign
Q06187:p.Ile429Asn,pathogenic
Q06187:p.Ile429Val,benign
Q06187:p.Lys430Glu,pathogenic
Q06187:p.Lys430Arg,pathogenic
Q06187:p.Lys433Arg,benign
Q06187:p.Glu444Ala,benign
Q06187:p.Glu445Asp,pathogenic
Q06187:p.Glu455Asp,benign
Q06187:p.Gly462Asp,pathogenic
Q06187:p.Gly462Val,pathogenic
Q06187:p.Tyr476Asp,pathogenic
Q06187:p.Met477Arg,pathogenic
Q06187:p.Asn484Lys,benign
Q06187:p.Tyr485Phe,benign
Q06187:p.His491Asn,benign
Q06187:p.His491Pro,benign
Q06187:p.His491Thr,benign
Q06187:p.Arg492His,benign
Q06187:p.Phe493Leu,benign
Q06187:p.Gln494His,benign
Q06187:p.Thr495Asn,benign
Q06187:p.Thr495Ser,benign
Q06187:p.Cys502Phe,pathogenic
Q06187:p.Cys502Trp,pathogenic
Q06187:p.Cys506Arg,pathogenic
Q06187:p.Cys506Tyr,pathogenic
Q06187:p.Ala508Asp,pathogenic
Q06187:p.Met509Ile,pathogenic
Q06187:p.Met509Val,pathogenic
Q06187:p.Leu512Pro,pathogenic
Q06187:p.Leu512Gln,pathogenic
Q06187:p.Leu518Arg,pathogenic
Q06187:p.Arg520Gln,pathogenic
Q06187:p.Asp521Gly,pathogenic
Q06187:p.Asp521His,pathogenic
Q06187:p.Asp521Asn,pathogenic
Q06187:p.Ala523Glu,pathogenic
Q06187:p.Arg525Gly,pathogenic
Q06187:p.Arg525Pro,pathogenic
Q06187:p.Arg525Gln,pathogenic
Q06187:p.Asn526Lys,pathogenic
Q06187:p.Asp531Asn,benign
Q06187:p.Gln532Arg,benign
Q06187:p.Val535Phe,pathogenic
Q06187:p.Leu542Pro,pathogenic
Q06187:p.Arg544Gly,pathogenic
Q06187:p.Arg544Lys,pathogenic
Q06187:p.Val555Ile,benign
Q06187:p.Phe559Ser,pathogenic
Q06187:p.Arg562Pro,pathogenic
Q06187:p.Arg562Trp,pathogenic
Q06187:p.Trp563Leu,pathogenic
Q06187:p.Glu567Lys,pathogenic
Q06187:p.Ser578Tyr,pathogenic
Q06187:p.Trp581Arg,pathogenic
Q06187:p.Ala582Val,pathogenic
Q06187:p.Phe583Ser,pathogenic
Q06187:p.Met587Leu,pathogenic
Q06187:p.Glu589Asp,pathogenic
Q06187:p.Glu589Gly,pathogenic
Q06187:p.Glu589Lys,pathogenic
Q06187:p.Ile590Val,benign
Q06187:p.Ser592Pro,pathogenic
Q06187:p.Gly594Glu,pathogenic
Q06187:p.Gly594Arg,pathogenic
Q06187:p.Met596Ile,benign
Q06187:p.Tyr598Cys,pathogenic
Q06187:p.Thr602Asn,benign
Q06187:p.Thr602Ser,benign
Q06187:p.Thr606Ala,benign
Q06187:p.Thr606Met,benign
Q06187:p.Ala607Asp,pathogenic
Q06187:p.Ala611Ser,benign
Q06187:p.Ala611Thr,benign
Q06187:p.Gln612Lys,benign
Q06187:p.Gly613Asp,pathogenic
Q06187:p.Tyr617Phe,benign
Q06187:p.Pro619Ala,pathogenic
Q06187:p.Pro619Ser,pathogenic
Q06187:p.Pro619Thr,pathogenic
Q06187:p.Ala622Pro,pathogenic
Q06187:p.Glu624Asp,benign
Q06187:p.Lys625Arg,benign
Q06187:p.Val626Gly,pathogenic
Q06187:p.Val626Ile,benign
Q06187:p.Thr628Ala,benign
Q06187:p.Thr628Ser,benign
Q06187:p.Met630Lys,pathogenic
Q06187:p.Met630Thr,pathogenic
Q06187:p.Cys633Tyr,pathogenic
Q06187:p.Asp639Glu,benign
Q06187:p.Asp639Asn,benign
Q06187:p.Arg641Cys,pathogenic
Q06187:p.Arg641His,pathogenic
Q06187:p.Thr643Ser,benign
Q06187:p.Phe644Leu,pathogenic
Q06187:p.Phe644Ser,pathogenic
Q06187:p.Lys645Arg,benign
Q06187:p.Ile646Leu,benign
Q06187:p.Ile646Ser,benign
Q06187:p.Ile646Thr,benign
Q06187:p.Ile646Val,benign
Q06187:p.Leu647Pro,pathogenic
Q06187:p.Asn650Ser,benign
Q06187:p.Leu652Ile,benign
Q06187:p.Leu652Pro,pathogenic
Q06187:p.Val654Ala,benign
Q06187:p.Val654Ile,benign
Q06187:p.Met655Val,benign
P08123:p.Leu17Ser,benign
P08123:p.Cys18Tyr,benign
P08123:p.Ser24Cys,benign
P08123:p.Ser24Phe,benign
P08123:p.Ser24Val,benign
P08123:p.Leu25Trp,benign
P08123:p.Gln26Phe,benign
P08123:p.Glu27Phe,benign
P08123:p.Glu27Leu,benign
P08123:p.Val30Cys,benign
P08123:p.Arg31Gln,benign
P08123:p.Lys32Glu,benign
P08123:p.Met96Asn,benign
P08123:p.Ala131Ser,benign
P08123:p.Ala135Pro,benign
P08123:p.Gly193Ser,pathogenic
P08123:p.Gly202Arg,pathogenic
P08123:p.Gly211Asp,pathogenic
P08123:p.Arg234Cys,pathogenic
P08123:p.Gly247Arg,pathogenic
P08123:p.Gly253Asp,pathogenic
P08123:p.Gly256Val,pathogenic
P08123:p.Val270Ile,benign
P08123:p.Ala273Pro,benign
P08123:p.Pro275Ala,benign
P08123:p.Pro275Ile,benign
P08123:p.Ala279Ser,benign
P08123:p.Gly283Arg,pathogenic
P08123:p.Gly319Arg,pathogenic
P08123:p.Gly325Glu,pathogenic
P08123:p.Gly328Ser,pathogenic
P08123:p.Gly331Asp,pathogenic
P08123:p.Gly334Cys,pathogenic
P08123:p.Gly337Cys,pathogenic
P08123:p.Gly337Ser,pathogenic
P08123:p.Gly349Cys,pathogenic
P08123:p.Gly358Ser,pathogenic
P08123:p.Ala387Val,benign
P08123:p.Gly397Glu,pathogenic
P08123:p.Ser401Gly,benign
P08123:p.Gly409Val,pathogenic
P08123:p.Pro420Ala,benign
P08123:p.Ser426Thr,benign
P08123:p.Gly433Glu,pathogenic
P08123:p.Asn435Ser,benign
P08123:p.Gly454Cys,pathogenic
P08123:p.Gly457Leu,pathogenic
P08123:p.Gly460Ser,pathogenic
P08123:p.Pro489Ala,benign
P08123:p.Asn491Ser,benign
P08123:p.Asn507Ser,benign
P08123:p.Gly511Asp,pathogenic
P08123:p.Gly517Arg,pathogenic
P08123:p.Gly526Glu,pathogenic
P08123:p.Gly547Arg,pathogenic
P08123:p.Pro549Ala,benign
P08123:p.Gly562Cys,pathogenic
P08123:p.Gly562Val,pathogenic
P08123:p.Ala564Thr,benign
P08123:p.Val567Ala,benign
P08123:p.Val567Leu,benign
P08123:p.His576Pro,benign
P08123:p.Glu578Asp,benign
P08123:p.Gly586Arg,pathogenic
P08123:p.Pro587Ala,benign
P08123:p.Gly592Ser,pathogenic
P08123:p.Thr603Ala,benign
P08123:p.Gly625Asp,pathogenic
P08123:p.Val630Ala,benign
P08123:p.Gly634Val,pathogenic
P08123:p.Gly637Asp,pathogenic
P08123:p.Ser639Gly,benign
P08123:p.Gly640Ser,pathogenic
P08123:p.Pro669Thr,benign
P08123:p.Gly670Asp,pathogenic
P08123:p.Gly676Asp,pathogenic
P08123:p.Gly676Val,pathogenic
P08123:p.Ala687Gly,benign
P08123:p.Gly715Asp,pathogenic
P08123:p.Gly730Cys,pathogenic
P08123:p.Gly733Cys,pathogenic
P08123:p.Gly736Cys,pathogenic
P08123:p.Gly739Arg,pathogenic
P08123:p.Ala743Thr,benign
P08123:p.Gly748Val,pathogenic
P08123:p.Gly751Ser,pathogenic
P08123:p.Gly754Cys,pathogenic
P08123:p.Gly754Arg,pathogenic
P08123:p.Ala765Ser,benign
P08123:p.Gly766Val,pathogenic
P08123:p.Pro767Gln,benign
P08123:p.Asn768Met,benign
P08123:p.Gly769Val,benign
P08123:p.Gly778Ser,pathogenic
P08123:p.Gly784Arg,pathogenic
P08123:p.Gly787Cys,pathogenic
P08123:p.Gly790Asp,pathogenic
P08123:p.Gly796Ser,pathogenic
P08123:p.Ala813Ser,benign
P08123:p.Gly820Ser,pathogenic
P08123:p.Thr831Ser,benign
P08123:p.Val834Thr,benign
P08123:p.Gly835Cys,pathogenic
P08123:p.Gly835Ser,pathogenic
P08123:p.Gly856Arg,pathogenic
P08123:p.Gly856Val,pathogenic
P08123:p.Gly877Cys,pathogenic
P08123:p.Ala890Val,benign
P08123:p.Val891Leu,benign
P08123:p.Gly892Asp,pathogenic
P08123:p.Pro894Ser,benign
P08123:p.Gly895Asp,pathogenic
P08123:p.Gly949Ser,pathogenic
P08123:p.Ile954Asn,benign
P08123:p.Gly955Asp,pathogenic
P08123:p.Gly955Ser,pathogenic
P08123:p.Gly973Val,pathogenic
P08123:p.Gly982Asp,pathogenic
P08123:p.Val987Ile,benign
P08123:p.Ala990Thr,benign
P08123:p.Ala990Val,benign
P08123:p.Gly991Val,pathogenic
P08123:p.Gly997Asp,pathogenic
P08123:p.Gly1003Asp,pathogenic
P08123:p.Gly1012Ser,pathogenic
P08123:p.Glu1013Asp,benign
P08123:p.Gly1027Glu,pathogenic
P08123:p.Ile1034Leu,benign
P08123:p.Pro1044Ser,benign
P08123:p.Gly1066Asp,pathogenic
P08123:p.Gly1078Cys,pathogenic
P08123:p.Gly1087Asp,pathogenic
P08123:p.Gly1096Ala,pathogenic
P08123:p.Gly1102Arg,pathogenic
P08123:p.Tyr1117Phe,benign
P08123:p.Thr1148Pro,pathogenic
P08123:p.Cys1195Tyr,pathogenic
P08123:p.Pro1212Gln,benign
P08123:p.Pro1212Ser,benign
P08123:p.Ala1234Gly,benign
P08123:p.Asp1353Asn,benign
P07225:p.Cys14Tyr,benign
P07225:p.Leu15His,pathogenic
P07225:p.Val18Glu,pathogenic
P07225:p.Glu23Leu,benign
P07225:p.Val35Ile,benign
P07225:p.Arg40Leu,pathogenic
P07225:p.Arg41His,pathogenic
P07225:p.Ala42Gly,benign
P07225:p.Ser44Ala,benign
P07225:p.Leu45Met,benign
P07225:p.Lys50Glu,pathogenic
P07225:p.Gly52Asp,pathogenic
P07225:p.Glu67Ala,pathogenic
P07225:p.Ala68Asp,pathogenic
P07225:p.Phe72Cys,pathogenic
P07225:p.Thr78Met,pathogenic
P07225:p.Val87Leu,pathogenic
P07225:p.Cys88Tyr,pathogenic
P07225:p.Arg90Cys,pathogenic
P07225:p.Arg90His,pathogenic
P07225:p.Thr94Pro,benign
P07225:p.Thr94Ser,benign
P07225:p.Gly95Glu,pathogenic
P07225:p.Gly95Arg,pathogenic
P07225:p.Arg101Cys,pathogenic
P07225:p.Asn105Asp,benign
P07225:p.Arg111Ser,pathogenic
P07225:p.Ala116Gly,benign
P07225:p.Ile117Cys,benign
P07225:p.Asp119Ile,benign
P07225:p.Gln120Lys,benign
P07225:p.Cys121Tyr,pathogenic
P07225:p.Pro123Ala,benign
P07225:p.Asp129Gly,pathogenic
P07225:p.Thr144Ile,benign
P07225:p.Thr144Asn,pathogenic
P07225:p.Trp149Cys,pathogenic
P07225:p.Asp157Gly,pathogenic
P07225:p.Cys161Gly,pathogenic
P07225:p.Cys161Arg,benign
P07225:p.Asn166Tyr,pathogenic
P07225:p.Cys175Phe,pathogenic
P07225:p.Cys186Tyr,pathogenic
P07225:p.Asn188Ser,benign
P07225:p.Met192Val,benign
P07225:p.Lys196Glu,pathogenic
P07225:p.Glu204Gly,pathogenic
P07225:p.Ser210Asn,benign
P07225:p.Ile211Met,benign
P07225:p.Pro221Leu,benign
P07225:p.Arg233Lys,pathogenic
P07225:p.Tyr234Cys,pathogenic
P07225:p.Cys241Ser,pathogenic
P07225:p.Asp243Asn,pathogenic
P07225:p.Ile244Val,benign
P07225:p.Asp245Gly,pathogenic
P07225:p.Cys247Gly,pathogenic
P07225:p.Glu249Lys,pathogenic
P07225:p.Asn258Ser,pathogenic
P07225:p.Tyr263His,benign
P07225:p.Cys265Arg,pathogenic
P07225:p.Cys265Trp,pathogenic
P07225:p.Tyr266Cys,pathogenic
P07225:p.Cys267Ser,pathogenic
P07225:p.Val284Ala,benign
P07225:p.Asp294Asn,benign
P07225:p.Leu300Pro,pathogenic
P07225:p.Ser324Pro,pathogenic
P07225:p.Glu335Gln,benign
P07225:p.Gly336Asp,pathogenic
P07225:p.Gly336Ser,pathogenic
P07225:p.Gly336Val,pathogenic
P07225:p.Leu339Pro,pathogenic
P07225:p.Asp345Tyr,benign
P07225:p.Leu351Pro,pathogenic
P07225:p.Arg355His,pathogenic
P07225:p.Gly357Arg,pathogenic
P07225:p.Lys364Glu,pathogenic
P07225:p.Asp376Asn,pathogenic
P07225:p.Val377Ile,benign
P07225:p.Gly381Asp,pathogenic
P07225:p.Gly381Val,pathogenic
P07225:p.Trp383Arg,pathogenic
P07225:p.Glu390Lys,pathogenic
P07225:p.Leu446Pro,pathogenic
P07225:p.Cys449Ser,pathogenic
P07225:p.Cys475Arg,pathogenic
P07225:p.Gly482Cys,pathogenic
P07225:p.Tyr485Cys,pathogenic
P07225:p.Gln492Glu,benign
P07225:p.Val500Gly,benign
P07225:p.Ser501Ala,pathogenic
P07225:p.Ser502Gly,benign
P07225:p.Ser502Asn,benign
P07225:p.Val508Gly,pathogenic
P07225:p.Val508Ile,benign
P07225:p.Val508Met,pathogenic
P07225:p.Arg515Cys,pathogenic
P07225:p.Arg515Pro,pathogenic
P07225:p.Thr518Met,benign
P07225:p.Gly519Asp,benign
P07225:p.Gly521Asp,pathogenic
P07225:p.Ala525Pro,pathogenic
P07225:p.Leu526Ser,pathogenic
P07225:p.Gly529Ser,benign
P07225:p.Asn531Ser,benign
P07225:p.Thr532Ala,pathogenic
P07225:p.Asp549Glu,benign
P07225:p.Leu551Val,benign
P07225:p.Leu552Ile,benign
P07225:p.Leu552Ser,pathogenic
P07225:p.Arg561Gly,pathogenic
P07225:p.Cys568Tyr,pathogenic
P07225:p.Asp570Asn,benign
P07225:p.Asp570Ser,benign
P07225:p.Gln572Arg,benign
P07225:p.Leu575Arg,pathogenic
P07225:p.Val579Ala,benign
P07225:p.Leu584Gln,pathogenic
P07225:p.Ser587Leu,benign
P07225:p.Thr594Ala,benign
P07225:p.His597Asp,benign
P07225:p.His597Gln,benign
P07225:p.Asp599Glu,benign
P07225:p.Gln601Arg,benign
P07225:p.Arg602Thr,benign
P07225:p.Val606Ile,benign
P07225:p.Met611Lys,pathogenic
P07225:p.Met611Thr,pathogenic
P07225:p.Lys612Thr,benign
P07225:p.Ala613Gly,benign
P07225:p.Ala616Pro,pathogenic
P07225:p.Leu622Arg,pathogenic
P07225:p.Thr630Ile,pathogenic
P07225:p.Tyr636Cys,pathogenic
P07225:p.Gly638Asp,pathogenic
P07225:p.Cys639Phe,pathogenic
P07225:p.Cys639Tyr,pathogenic
P07225:p.Met640Thr,pathogenic
P07225:p.Ile644Ser,pathogenic
P07225:p.Gly646Asp,benign
P07225:p.Gln648Glu,benign
P07225:p.His664Pro,pathogenic
P07225:p.Ser665Leu,pathogenic
P07225:p.Cys666Arg,pathogenic
P07225:p.Pro667Leu,pathogenic
P07225:p.Val669Ile,benign
P07225:p.Lys671Glu,benign
Q12809:p.Met1Leu,benign
Q12809:p.Arg4Ala,benign
Q12809:p.Arg5Gly,benign
Q12809:p.Gly6Ser,benign
Q12809:p.His7Pro,benign
Q12809:p.Val8Arg,benign
Q12809:p.Pro10Ala,benign
Q12809:p.Gln11Val,benign
Q12809:p.Asn12Cys,benign
Q12809:p.Asn12Ser,benign
Q12809:p.Thr13Arg,benign
Q12809:p.Ser26Ile,pathogenic
Q12809:p.Ser26Gln,benign
Q12809:p.Arg27Ser,benign
Q12809:p.Phe29Leu,pathogenic
Q12809:p.Ile31Ser,pathogenic
Q12809:p.Asn33Thr,pathogenic
Q12809:p.Gly47Val,pathogenic
Q12809:p.Gly53Arg,pathogenic
Q12809:p.Ser55Leu,pathogenic
Q12809:p.Arg56Gln,pathogenic
Q12809:p.Thr65Pro,pathogenic
Q12809:p.Cys66Gly,pathogenic
Q12809:p.Leu69Met,benign
Q12809:p.His70Arg,pathogenic
Q12809:p.Pro72Gln,pathogenic
Q12809:p.Ala78Pro,pathogenic
Q12809:p.Ala85Val,pathogenic
Q12809:p.Leu86Arg,pathogenic
Q12809:p.Ala97Ser,benign
Q12809:p.Arg100Gly,pathogenic
Q12809:p.Arg100Gln,pathogenic
Q12809:p.Ala121Thr,benign
Q12809:p.Val131Met,benign
Q12809:p.Met137Ile,benign
Q12809:p.Val138Leu,benign
Q12809:p.Ala142Asp,benign
Q12809:p.Ala142Thr,benign
Q12809:p.Ala142Val,benign
Q12809:p.His143Arg,benign
Q12809:p.Gly149Ala,benign
Q12809:p.Pro150Ala,benign
Q12809:p.Pro150Thr,benign
Q12809:p.Pro151Ala,benign
Q12809:p.Pro151Ser,benign
Q12809:p.Thr152Ser,benign
Q12809:p.Ser153Gly,benign
Q12809:p.Pro157Ser,benign
Q12809:p.Pro157Thr,benign
Q12809:p.Ala160Gly,benign
Q12809:p.Thr162Cys,benign
Q12809:p.Phe163Thr,benign
Q12809:p.Arg164Cys,benign
Q12809:p.Leu165Phe,benign
Q12809:p.Lys166Arg,benign
Q12809:p.Leu167Ala,benign
Q12809:p.Pro168Gly,benign
Q12809:p.Ala169Gly,benign
Q12809:p.Leu170Val,benign
Q12809:p.Leu171Arg,benign
Q12809:p.Ala172Gly,benign
Q12809:p.Ala175Ser,benign
Q12809:p.Ala175Thr,benign
Q12809:p.Arg176Leu,benign
Q12809:p.Arg176Trp,pathogenic
Q12809:p.Glu177Asp,benign
Q12809:p.Glu177Gly,benign
Q12809:p.Ser178Leu,benign
Q12809:p.Ser178Pro,benign
Q12809:p.Ser179Ala,benign
Q12809:p.Ser179Thr,benign
Q12809:p.Val180Ser,benign
Q12809:p.Val180Thr,benign
Q12809:p.Arg181Ala,benign
Q12809:p.Ser182Ala,benign
Q12809:p.Ser182Gly,benign
Q12809:p.Ser182Arg,benign
Q12809:p.Ser182Thr,benign
Q12809:p.Gly183Arg,benign
Q12809:p.Gly183Ser,benign
Q12809:p.Gly184Ala,benign
Q12809:p.Gly184Leu,benign
Q12809:p.Gly184Arg,benign
Q12809:p.Gly184Ser,benign
Q12809:p.Ala185Cys,benign
Q12809:p.Ala185Gly,benign
Q12809:p.Ala185Met,benign
Q12809:p.Ala185Pro,benign
Q12809:p.Ala185Val,benign
Q12809:p.Gly186Arg,benign
Q12809:p.Gly186Ser,benign
Q12809:p.Gly187Lys,benign
Q12809:p.Gly187Ser,benign
Q12809:p.Ala188Gly,benign
Q12809:p.Ala188Pro,benign
Q12809:p.Ala188Thr,benign
Q12809:p.Ala188Val,benign
Q12809:p.Ala190Cys,benign
Q12809:p.Pro191Ala,benign
Q12809:p.Pro191Ser,benign
Q12809:p.Gly192Asp,benign
Q12809:p.Gly192Val,benign
Q12809:p.Ala193Arg,benign
Q12809:p.Ala193Val,benign
Q12809:p.Ala193Trp,benign
Q12809:p.Val194Asp,benign
Q12809:p.Val195Gly,benign
Q12809:p.Val195Leu,benign
Q12809:p.Val196Gly,benign
Q12809:p.Val196Thr,benign
Q12809:p.Asp197Pro,benign
Q12809:p.Asp197Ser,benign
Q12809:p.Val198Leu,benign
Q12809:p.Val198Met,benign
Q12809:p.Asp199Thr,benign
Q12809:p.Asp199Trp,benign
Q12809:p.Leu200Glu,benign
Q12809:p.Leu200Pro,benign
Q12809:p.Thr201Ala,benign
Q12809:p.Thr201Val,benign
Q12809:p.Pro202Ala,benign
Q12809:p.Pro202Asn,benign
Q12809:p.Pro202Ser,benign
Q12809:p.Pro202Thr,benign
Q12809:p.Ala203Pro,benign
Q12809:p.Ala204Cys,benign
Q12809:p.Ala204Val,benign
Q12809:p.Pro205His,benign
Q12809:p.Ser206Arg,benign
Q12809:p.Ser207Arg,benign
Q12809:p.Asp213Asn,benign
Q12809:p.Val215Met,benign
Q12809:p.Thr216Pro,benign
Q12809:p.Thr216Ser,benign
Q12809:p.Ala223Val,benign
Q12809:p.Pro227Ala,benign
Q12809:p.Pro227Gln,benign
Q12809:p.Ala228Met,benign
Q12809:p.Ala228Val,benign
Q12809:p.Arg231Gln,benign
Q12809:p.Ala233Val,benign
Q12809:p.Val235Gly,benign
Q12809:p.Gly236Ala,benign
Q12809:p.Pro237Ser,benign
Q12809:p.Gly238Ser,pathogenic
Q12809:p.Ser239Gly,benign
Q12809:p.Ser239Pro,benign
Q12809:p.Pro240Arg,benign
Q12809:p.Pro240Ser,benign
Q12809:p.Pro241Ala,benign
Q12809:p.Pro241Gly,benign
Q12809:p.Pro241Arg,benign
Q12809:p.Pro241Ser,benign
Q12809:p.Pro241Thr,benign
Q12809:p.Pro241Val,benign
Q12809:p.Arg242Ala,benign
Q12809:p.Arg242His,benign
Q12809:p.Arg242Pro,benign
Q12809:p.Arg242Ser,benign
Q12809:p.Arg242Val,benign
Q12809:p.Ser243Cys,benign
Q12809:p.Ser243Gly,benign
Q12809:p.Ser243Asn,benign
Q12809:p.Ser243Pro,benign
Q12809:p.Ala244Val,benign
Q12809:p.Pro245Cys,benign
Q12809:p.Pro245Gly,benign
Q12809:p.Pro245Arg,benign
Q12809:p.Pro245Ser,benign
Q12809:p.Gly246Ala,benign
Q12809:p.Gly246Glu,benign
Q12809:p.Gln247Pro,benign
Q12809:p.Leu248Ala,benign
Q12809:p.Leu248Glu,benign
Q12809:p.Leu248Gly,benign
Q12809:p.Leu248His,benign
Q12809:p.Leu248Ile,benign
Q12809:p.Leu248Gln,benign
Q12809:p.Pro249Gln,benign
Q12809:p.Pro249Arg,benign
Q12809:p.Ser250His,benign
Q12809:p.Ser250Leu,benign
Q12809:p.Pro251Leu,benign
Q12809:p.Ala253Gly,benign
Q12809:p.Ala253Val,benign
Q12809:p.His254Gln,benign
Q12809:p.His254Tyr,benign
Q12809:p.Asp259Glu,benign
Q12809:p.Ala268Pro,benign
Q12809:p.Ala268Thr,benign
Q12809:p.Ala277Thr,benign
Q12809:p.Ala293Thr,benign
Q12809:p.Val295Ala,benign
Q12809:p.Val295Leu,benign
Q12809:p.Leu296Pro,benign
Q12809:p.Pro298Gln,benign
Q12809:p.Arg301His,benign
Q12809:p.Gly306Trp,pathogenic
Q12809:p.Arg312Cys,pathogenic
Q12809:p.Ser313Gly,benign
Q12809:p.Ser320Leu,pathogenic
Q12809:p.Arg328Cys,pathogenic
Q12809:p.Pro347Ser,pathogenic
Q12809:p.Glu365Asp,benign
Q12809:p.Tyr420Cys,pathogenic
Q12809:p.Thr421Met,pathogenic
Q12809:p.Ala422Thr,pathogenic
Q12809:p.Tyr427Ser,pathogenic
Q12809:p.Leu433Met,benign
Q12809:p.Thr436Met,pathogenic
Q12809:p.Glu438Asp,benign
Q12809:p.Gly439Val,benign
Q12809:p.Pro440Ser,benign
Q12809:p.Pro441Ala,benign
Q12809:p.Pro441His,benign
Q12809:p.Pro441Met,benign
Q12809:p.Pro441Gln,benign
Q12809:p.Pro441Ser,benign
Q12809:p.Pro441Thr,benign
Q12809:p.Ala442Gly,benign
Q12809:p.Ala442Thr,benign
Q12809:p.Thr443Ala,benign
Q12809:p.Thr443His,benign
Q12809:p.Thr443Pro,benign
Q12809:p.Glu444Asp,benign
Q12809:p.Gly446Ser,benign
Q12809:p.Pro451Leu,pathogenic
Q12809:p.Asp456Tyr,pathogenic
Q12809:p.Leu457Phe,benign
Q12809:p.Asn470Asp,pathogenic
Q12809:p.Thr474Ile,pathogenic
Q12809:p.Ile521Val,benign
Q12809:p.Arg531Gln,pathogenic
Q12809:p.Arg534Cys,pathogenic
Q12809:p.Phe551Leu,benign
Q12809:p.Leu552Ser,pathogenic
Q12809:p.Ala558Pro,pathogenic
Q12809:p.Ala561Thr,pathogenic
Q12809:p.Ala561Val,pathogenic
Q12809:p.His562Pro,pathogenic
Q12809:p.Leu564Pro,pathogenic
Q12809:p.Tyr569His,pathogenic
Q12809:p.Ile571Leu,pathogenic
Q12809:p.Gly572Cys,pathogenic
Q12809:p.Gly572Arg,pathogenic
Q12809:p.Gly572Ser,pathogenic
Q12809:p.His578Asn,benign
Q12809:p.Met579Thr,benign
Q12809:p.Met579Val,benign
Q12809:p.Arg582Cys,pathogenic
Q12809:p.Arg582His,benign
Q12809:p.Gly584Ser,pathogenic
Q12809:p.Trp585Cys,pathogenic
Q12809:p.Asn588Asp,pathogenic
Q12809:p.Asn588Lys,pathogenic
Q12809:p.Ile593Met,benign
Q12809:p.Ile593Arg,pathogenic
Q12809:p.Ile593Thr,pathogenic
Q12809:p.Pro596Arg,pathogenic
Q12809:p.Gly601Ser,pathogenic
Q12809:p.Gly604Ser,pathogenic
Q12809:p.Asp609Asn,pathogenic
Q12809:p.Tyr611His,pathogenic
Q12809:p.Val612Leu,pathogenic
Q12809:p.Thr613Met,pathogenic
Q12809:p.Ala614Gly,benign
Q12809:p.Ala614Val,pathogenic
Q12809:p.Leu615Val,pathogenic
Q12809:p.Ser620Cys,benign
Q12809:p.Leu622Phe,pathogenic
Q12809:p.Thr623Ile,pathogenic
Q12809:p.Gly626Ser,pathogenic
Q12809:p.Phe627Leu,pathogenic
Q12809:p.Gly628Ser,pathogenic
Q12809:p.Gly628Val,pathogenic
Q12809:p.Asn629Asp,pathogenic
Q12809:p.Asn629Lys,pathogenic
Q12809:p.Asn629Ser,pathogenic
Q12809:p.Val630Ala,pathogenic
Q12809:p.Val630Leu,pathogenic
Q12809:p.Pro632Ser,pathogenic
Q12809:p.Asn633Ser,pathogenic
Q12809:p.Asn635Ile,pathogenic
Q12809:p.Glu637Lys,pathogenic
Q12809:p.Lys638Glu,pathogenic
Q12809:p.Phe640Leu,pathogenic
Q12809:p.Phe640Val,pathogenic
Q12809:p.Ser641Phe,pathogenic
Q12809:p.Met645Leu,pathogenic
Q12809:p.Pro721Leu,pathogenic
Q12809:p.Asp727Ala,benign
Q12809:p.Arg744Pro,pathogenic
Q12809:p.Gly749Asp,benign
Q12809:p.Arg752Gln,pathogenic
Q12809:p.Arg752Trp,pathogenic
Q12809:p.Asp774Tyr,pathogenic
Q12809:p.Glu788Asp,pathogenic
Q12809:p.Val794Ile,benign
Q12809:p.Phe805Cys,pathogenic
Q12809:p.Phe805Ser,pathogenic
Q12809:p.Ser818Leu,pathogenic
Q12809:p.Gly820Arg,pathogenic
Q12809:p.Val822Met,pathogenic
Q12809:p.Arg823Trp,pathogenic
Q12809:p.Asp837Gly,pathogenic
Q12809:p.Asn861Ile,pathogenic
Q12809:p.Thr865Val,benign
Q12809:p.Thr875Ala,benign
Q12809:p.Thr875Gly,benign
Q12809:p.Leu877Trp,benign
Q12809:p.Glu878Asp,benign
Q12809:p.Gly879Ser,benign
Q12809:p.Ser882His,benign
Q12809:p.Ser882Asn,benign
Q12809:p.Arg887His,pathogenic
Q12809:p.Arg892Ala,benign
Q12809:p.Arg893His,benign
Q12809:p.Arg894Ser,benign
Q12809:p.Thr895Asp,benign
Q12809:p.Thr895Phe,benign
Q12809:p.Asp896Lys,benign
Q12809:p.Asp896Pro,benign
Q12809:p.Lys897Arg,benign
Q12809:p.Lys897Thr,benign
Q12809:p.Lys897Val,benign
Q12809:p.Asp898Ser,benign
Q12809:p.Thr899Ala,benign
Q12809:p.Thr899Gly,benign
Q12809:p.Thr899Pro,benign
Q12809:p.Glu900Ala,benign
Q12809:p.Gln901Glu,benign
Q12809:p.Pro902Leu,benign
Q12809:p.Glu904Arg,benign
Q12809:p.Val905Met,benign
Q12809:p.Val905Pro,benign
Q12809:p.Ser906Ala,benign
Q12809:p.Ala907Glu,benign
Q12809:p.Ala907Thr,benign
Q12809:p.Leu908Gln,benign
Q12809:p.Gly909Ser,benign
Q12809:p.Pro910Ser,benign
Q12809:p.Gly911Ala,benign
Q12809:p.Gly911Pro,benign
Q12809:p.Gly911Ser,benign
Q12809:p.Gly911Thr,benign
Q12809:p.Arg912Trp,benign
Q12809:p.Ala913His,benign
Q12809:p.Ala913Val,pathogenic
Q12809:p.Gly914Val,benign
Q12809:p.Gly916Ala,benign
Q12809:p.Pro917Leu,pathogenic
Q12809:p.Pro917Gln,benign
Q12809:p.Pro917Arg,benign
Q12809:p.Ser918Thr,benign
Q12809:p.Ser919Cys,benign
Q12809:p.Ser919Gly,benign
Q12809:p.Ser919Asn,benign
Q12809:p.Gly921Val,benign
Q12809:p.Arg922Trp,pathogenic
Q12809:p.Pro923Gln,benign
Q12809:p.Pro923Ser,benign
Q12809:p.Gly924Val,benign
Q12809:p.Gly925Gln,benign
Q12809:p.Gly925Arg,pathogenic
Q12809:p.Pro926Ser,benign
Q12809:p.Pro926Val,benign
Q12809:p.Glu929Asp,benign
Q12809:p.Pro931Leu,benign
Q12809:p.Pro931Gln,benign
Q12809:p.Pro931Arg,benign
Q12809:p.Gly945Asp,benign
Q12809:p.Gly945Glu,benign
Q12809:p.Gly947Asp,benign
Q12809:p.Glu966Asp,benign
Q12809:p.Pro967Leu,benign
Q12809:p.Pro968Leu,benign
Q12809:p.Glu971Asp,benign
Q12809:p.Met974Ile,benign
Q12809:p.Met974Thr,benign
Q12809:p.Glu975Asp,benign
Q12809:p.Cys977Gly,benign
Q12809:p.Cys977Arg,benign
Q12809:p.Thr983Ile,pathogenic
Q12809:p.Gly989Ala,benign
Q12809:p.Ala990Gly,benign
Q12809:p.Asn996Ile,pathogenic
Q12809:p.Asp1003Ala,benign
Q12809:p.Ser1004Asn,benign
Q12809:p.Arg1007His,benign
Q12809:p.Pro1016Ala,benign
Q12809:p.Ala1017Pro,benign
Q12809:p.Ala1017Val,benign
Q12809:p.Pro1018Thr,benign
Q12809:p.Thr1019Ala,benign
Q12809:p.Thr1019Pro,benign
Q12809:p.Gly1031Cys,benign
Q12809:p.Gly1031Asn,benign
Q12809:p.Gly1031Ser,benign
Q12809:p.Arg1032Pro,benign
Q12809:p.Pro1034Ala,benign
Q12809:p.Pro1034Ser,benign
Q12809:p.Gly1036Asp,pathogenic
Q12809:p.Gly1036Ser,benign
Q12809:p.Val1038Met,benign
Q12809:p.Glu1039Gln,benign
Q12809:p.Ser1040Gly,benign
Q12809:p.Arg1041Lys,benign
Q12809:p.Asn1050His,benign
Q12809:p.Ala1058Thr,benign
Q12809:p.Thr1062Ala,benign
Q12809:p.Thr1062Ser,benign
Q12809:p.Gln1070Pro,benign
Q12809:p.Met1071Val,benign
Q12809:p.Thr1072Ala,benign
Q12809:p.Val1074Ile,benign
Q12809:p.Gly1087Cys,benign
Q12809:p.Thr1089Ala,benign
Q12809:p.Thr1091Ala,benign
Q12809:p.Thr1091Ser,benign
Q12809:p.Ser1092Phe,benign
Q12809:p.Pro1093Ser,benign
Q12809:p.Leu1094Met,benign
Q12809:p.Val1097Ile,benign
Q12809:p.Leu1100Phe,benign
Q12809:p.Leu1100Ile,benign
Q12809:p.Leu1100Val,benign
Q12809:p.Thr1102Pro,benign
Q12809:p.Thr1104Ala,benign
Q12809:p.Ala1116Val,benign
Q12809:p.Cys1117Phe,benign
Q12809:p.Pro1122Ala,benign
Q12809:p.Pro1122Leu,benign
Q12809:p.Pro1122Thr,benign
Q12809:p.Pro1122Val,benign
Q12809:p.Ala1124Asp,benign
Q12809:p.Ala1124Val,benign
Q12809:p.Pro1125Ser,benign
Q12809:p.Glu1130Asp,benign
Q12809:p.Pro1132Leu,benign
Q12809:p.Thr1133Ala,benign
Q12809:p.Thr1133Pro,benign
Q12809:p.Ala1144Leu,benign
Q12809:p.Leu1145Thr,benign
Q12809:p.Thr1146Ser,benign
Q12809:p.Ser1147Gln,benign
P22735:p.Gly4Arg,benign
P22735:p.Leu17Trp,benign
P22735:p.Gln18His,benign
P22735:p.Thr21Ser,benign
P22735:p.Glu26Ser,benign
P22735:p.Asp32Glu,benign
P22735:p.Gly33Arg,benign
P22735:p.Ser35Phe,benign
P22735:p.Ser42Tyr,pathogenic
P22735:p.Cys53Ser,pathogenic
P22735:p.Ala56Val,benign
P22735:p.Ala57Val,benign
P22735:p.Gly70Asp,benign
P22735:p.Ser74Arg,benign
P22735:p.Arg89Gln,benign
P22735:p.Val91Ile,benign
P22735:p.Arg93Trp,benign
P22735:p.Gly94Asp,pathogenic
P22735:p.Asp102Val,pathogenic
P22735:p.Arg106Gln,benign
P22735:p.Asn113Thr,benign
P22735:p.Leu118Met,benign
P22735:p.Ser120Leu,benign
P22735:p.Gln124Arg,benign
P22735:p.Arg126Cys,pathogenic
P22735:p.Arg126His,pathogenic
P22735:p.Arg127Gln,benign
P22735:p.Glu128Gln,benign
P22735:p.Asp132Glu,benign
P22735:p.Tyr134Cys,pathogenic
P22735:p.Arg142Cys,pathogenic
P22735:p.Arg142His,pathogenic
P22735:p.Arg142Pro,pathogenic
P22735:p.Arg143Cys,pathogenic
P22735:p.Arg143His,pathogenic
P22735:p.Gly144Glu,pathogenic
P22735:p.Gly144Arg,pathogenic
P22735:p.His148Arg,benign
P22735:p.Met149Val,benign
P22735:p.Leu152Val,benign
P22735:p.Ser160Cys,pathogenic
P22735:p.Gly186Asp,benign
P22735:p.Ala195Val,benign
P22735:p.Val198Thr,benign
P22735:p.Ser201Asn,benign
P22735:p.Asn204Thr,benign
P22735:p.Leu205Gln,pathogenic
P22735:p.Val209Phe,pathogenic
P22735:p.Asn214Ser,benign
P22735:p.Gly218Ser,pathogenic
P22735:p.Arg225His,pathogenic
P22735:p.Arg225Pro,pathogenic
P22735:p.Pro239Ala,benign
P22735:p.Ile243Ser,pathogenic
P22735:p.Pro249Leu,pathogenic
P22735:p.Arg264Gln,pathogenic
P22735:p.Arg264Trp,pathogenic
P22735:p.Ser272Pro,pathogenic
P22735:p.Tyr276Asn,pathogenic
P22735:p.Gly278Arg,pathogenic
P22735:p.Ala281Ser,benign
P22735:p.Glu285Lys,pathogenic
P22735:p.Arg286Gln,pathogenic
P22735:p.Asn289Thr,pathogenic
P22735:p.Phe293Val,pathogenic
P22735:p.Ile304Phe,pathogenic
P22735:p.Arg307Gly,pathogenic
P22735:p.Arg307Trp,pathogenic
P22735:p.Arg315Cys,pathogenic
P22735:p.Arg315His,pathogenic
P22735:p.Arg315Leu,pathogenic
P22735:p.Asn320Ser,benign
P22735:p.Arg323Gln,pathogenic
P22735:p.Arg323Trp,pathogenic
P22735:p.Asn330His,pathogenic
P22735:p.Ser331Pro,pathogenic
P22735:p.Asn341Thr,benign
P22735:p.Trp342Gly,benign
P22735:p.Trp342Arg,pathogenic
P22735:p.Gly349Ala,benign
P22735:p.Thr350Pro,benign
P22735:p.Asn351Thr,benign
P22735:p.Pro352His,benign
P22735:p.Ser353Gln,benign
P22735:p.Ala354Arg,benign
P22735:p.Val356Gly,benign
P22735:p.Ser358Gln,benign
P22735:p.Ser358Arg,pathogenic
P22735:p.Val359Met,pathogenic
P22735:p.Val359Arg,benign
P22735:p.Tyr365Asp,pathogenic
P22735:p.Leu366Pro,pathogenic
P22735:p.Tyr370Leu,benign
P22735:p.Ser371Phe,benign
P22735:p.Val372Arg,benign
P22735:p.Val379Leu,pathogenic
P22735:p.Gly382Arg,pathogenic
P22735:p.Val383Met,pathogenic
P22735:p.Arg389His,pathogenic
P22735:p.Arg389Pro,pathogenic
P22735:p.Cys390Ser,benign
P22735:p.Gly392Asp,pathogenic
P22735:p.Arg396His,pathogenic
P22735:p.Arg396Leu,pathogenic
P22735:p.Arg396Ser,pathogenic
P22735:p.Phe401Val,pathogenic
P22735:p.Glu425Asp,benign
P22735:p.Asp430Val,pathogenic
P22735:p.Met443Thr,benign
P22735:p.Gly473Ser,pathogenic
P22735:p.Asp490Gly,pathogenic
P22735:p.Glu520Gly,pathogenic
P22735:p.Ile527Val,benign
P22735:p.Ser533Gly,benign
P22735:p.Tyr544Cys,pathogenic
P22735:p.Ala561Thr,benign
P22735:p.Asn572Ser,benign
P22735:p.Met595Asn,benign
P22735:p.Val598Ile,benign
P22735:p.Ile601Thr,benign
P22735:p.His603Gln,benign
P22735:p.Phe620Tyr,benign
P22735:p.Ser625Thr,benign
P22735:p.Lys630Glu,benign
P22735:p.Glu637Ala,benign
P22735:p.Arg645His,benign
P22735:p.Lys653Glu,benign
P22735:p.Ala664Ser,benign
P22735:p.Arg687Cys,pathogenic
P22735:p.Arg687His,pathogenic
P22735:p.Ser755Thr,benign
P22735:p.Arg764Cys,pathogenic
P22735:p.Pro790Ser,benign
P22735:p.Gly791Arg,benign
P22735:p.Asp792Ala,benign
P22735:p.Gly793Arg,benign
P22735:p.Phe795Leu,benign
P22735:p.Phe796Leu,benign
P22735:p.Ala799Thr,benign
P22735:p.Gly801Asp,benign
P22735:p.Ile809Met,benign
P17405:p.Arg3Leu,benign
P17405:p.Leu8Pro,benign
P17405:p.Leu8Ser,benign
P17405:p.Arg9His,benign
P17405:p.Cys12Arg,benign
P17405:p.Ser15Cys,benign
P17405:p.Arg17Pro,benign
P17405:p.Gly23Arg,benign
P17405:p.Ala25Phe,benign
P17405:p.Ala25Ser,benign
P17405:p.Gly26Arg,benign
P17405:p.Gly29Pro,benign
P17405:p.Gly29Arg,benign
P17405:p.Trp32Arg,benign
P17405:p.Val36Ala,benign
P17405:p.Ala38Val,benign
P17405:p.Ala40Leu,benign
P17405:p.Ala40Val,benign
P17405:p.Asp49Val,pathogenic
P17405:p.Arg51Leu,benign
P17405:p.Leu62Val,benign
P17405:p.Ser63Pro,benign
P17405:p.Val75Ala,benign
P17405:p.Leu78Phe,benign
P17405:p.Ile91Val,benign
P17405:p.Cys92Trp,pathogenic
P17405:p.Leu103Pro,pathogenic
P17405:p.Val115Met,benign
P17405:p.Val130Ala,pathogenic
P17405:p.His136Gln,benign
P17405:p.Leu137Pro,pathogenic
P17405:p.Cys157Arg,pathogenic
P17405:p.Gly166Arg,pathogenic
P17405:p.Ser173Pro,benign
P17405:p.Ile176Asn,pathogenic
P17405:p.Ala196Pro,pathogenic
P17405:p.Val198Leu,benign
P17405:p.Arg200Cys,pathogenic
P17405:p.Ile201Val,benign
P17405:p.Trp209Arg,pathogenic
P17405:p.Thr217Met,benign
P17405:p.Asp218Asn,benign
P17405:p.Asp223His,benign
P17405:p.Leu225Met,pathogenic
P17405:p.Leu225Pro,pathogenic
P17405:p.Arg228Cys,pathogenic
P17405:p.Arg228Leu,benign
P17405:p.Arg229Pro,benign
P17405:p.Arg229Gln,benign
P17405:p.Gly230Asp,benign
P17405:p.Gly232Asp,pathogenic
P17405:p.Ala236Met,benign
P17405:p.Gly242Arg,pathogenic
P17405:p.Trp244Cys,pathogenic
P17405:p.Gly245Ser,pathogenic
P17405:p.Glu246Lys,pathogenic
P17405:p.Glu246Gln,pathogenic
P17405:p.Ser248Arg,pathogenic
P17405:p.Ser248Thr,benign
P17405:p.Asp251His,pathogenic
P17405:p.Leu252Gln,benign
P17405:p.Ala281Thr,pathogenic
P17405:p.Arg289His,pathogenic
P17405:p.Arg294Gln,pathogenic
P17405:p.Leu302Pro,pathogenic
P17405:p.Val312Met,pathogenic
P17405:p.Tyr313His,pathogenic
P17405:p.His319Tyr,pathogenic
P17405:p.Pro323Ala,pathogenic
P17405:p.Pro330Arg,pathogenic
P17405:p.Ala357Asp,pathogenic
P17405:p.Tyr367Cys,pathogenic
P17405:p.Pro371Ser,pathogenic
P17405:p.Arg376His,pathogenic
P17405:p.Arg376Leu,pathogenic
P17405:p.Ser379Pro,pathogenic
P17405:p.Met382Ile,pathogenic
P17405:p.Asn383Ser,pathogenic
P17405:p.Cys385Ser,benign
P17405:p.Asn389Thr,pathogenic
P17405:p.Trp391Gly,pathogenic
P17405:p.Ala413Val,pathogenic
P17405:p.His421Arg,pathogenic
P17405:p.His421Tyr,pathogenic
P17405:p.His425Arg,pathogenic
P17405:p.Cys431Arg,pathogenic
P17405:p.Leu432Pro,pathogenic
P17405:p.Trp435Cys,pathogenic
P17405:p.Ser436Arg,pathogenic
P17405:p.Tyr446Cys,pathogenic
P17405:p.Leu450Pro,pathogenic
P17405:p.Ala451Asp,pathogenic
P17405:p.Ala452Val,pathogenic
P17405:p.Gly456Asp,pathogenic
P17405:p.Phe463Ser,pathogenic
P17405:p.Tyr467Ser,pathogenic
P17405:p.Arg474Trp,pathogenic
P17405:p.Pro475Leu,pathogenic
P17405:p.Phe480Leu,pathogenic
P17405:p.Ala482Glu,pathogenic
P17405:p.Ala485Val,pathogenic
P17405:p.Thr486Ala,pathogenic
P17405:p.Tyr488Asn,pathogenic
P17405:p.Gly494Ser,pathogenic
P17405:p.Arg496Cys,pathogenic
P17405:p.Arg496His,pathogenic
P17405:p.Arg496Leu,pathogenic
P17405:p.Gln499His,benign
P17405:p.Gly506Arg,benign
P17405:p.Val510Ile,benign
P17405:p.His514Gln,pathogenic
P17405:p.Glu515Val,pathogenic
P17405:p.Tyr517Cys,pathogenic
P17405:p.Asn520Ser,pathogenic
P17405:p.Gln523His,pathogenic
P17405:p.Ala524Val,benign
P17405:p.Ile526Thr,benign
P17405:p.Pro527Leu,benign
P17405:p.Trp533Arg,pathogenic
P17405:p.Tyr537His,pathogenic
P17405:p.Arg538Lys,benign
P17405:p.Leu549Pro,pathogenic
P17405:p.Ala552Thr,benign
P17405:p.Asp563Tyr,pathogenic
P17405:p.Lys576Asn,pathogenic
P17405:p.Gly577Ser,pathogenic
P17405:p.Arg600His,pathogenic
P17405:p.Arg600Pro,pathogenic
P17405:p.Pro612Leu,benign
P17405:p.Gln620His,benign
P60201:p.Met1Leu,benign
P60201:p.Met1Pro,benign
P60201:p.Leu3Trp,benign
P60201:p.Arg9Lys,benign
P60201:p.Leu11Met,benign
P60201:p.Val12Ile,benign
P60201:p.Pro15Leu,pathogenic
P60201:p.Ala30Pro,pathogenic
P60201:p.Leu31Pro,pathogenic
P60201:p.Phe32Leu,pathogenic
P60201:p.Phe32Val,pathogenic
P60201:p.Cys33Tyr,pathogenic
P60201:p.Cys35Arg,pathogenic
P60201:p.Cys35Tyr,pathogenic
P60201:p.Ala39Thr,pathogenic
P60201:p.Thr41Ser,benign
P60201:p.Thr43Ile,pathogenic
P60201:p.Lys45Gln,benign
P60201:p.Lys45Arg,benign
P60201:p.Leu46Arg,pathogenic
P60201:p.Tyr50Cys,pathogenic
P60201:p.Phe51Ser,pathogenic
P60201:p.Tyr55Phe,benign
P60201:p.Asp57Glu,benign
P60201:p.Tyr60Cys,pathogenic
P60201:p.Ile62Met,benign
P60201:p.Asn63Asp,benign
P60201:p.Ala67Gly,benign
P60201:p.Val71Phe,benign
P60201:p.Gly74Arg,pathogenic
P60201:p.Ala76Pro,pathogenic
P60201:p.Thr116Lys,pathogenic
P60201:p.Gln121Pro,benign
P60201:p.Ser126Ala,benign
P60201:p.Gln129His,benign
P60201:p.His130Tyr,pathogenic
P60201:p.His133Gln,benign
P60201:p.His133Tyr,benign
P60201:p.Ser134Ala,benign
P60201:p.Ser134Cys,benign
P60201:p.Glu136Asp,benign
P60201:p.Arg137Trp,pathogenic
P60201:p.Cys139Arg,benign
P60201:p.His140Gln,benign
P60201:p.His140Tyr,pathogenic
P60201:p.Lys151Asn,pathogenic
P60201:p.Ile155Val,benign
P60201:p.Thr156Ile,pathogenic
P60201:p.Val161Ile,benign
P60201:p.Val162Glu,pathogenic
P60201:p.Val162Ile,benign
P60201:p.Val162Leu,benign
P60201:p.Trp163Arg,pathogenic
P60201:p.Val166Glu,pathogenic
P60201:p.Cys169Arg,pathogenic
P60201:p.Ser170Phe,pathogenic
P60201:p.Ser170Pro,pathogenic
P60201:p.Val172Ala,pathogenic
P60201:p.Val172Ile,benign
P60201:p.Pro173Ser,pathogenic
P60201:p.Tyr175Cys,pathogenic
P60201:p.Trp181Cys,pathogenic
P60201:p.Thr182Pro,pathogenic
P60201:p.Thr182Ser,benign
P60201:p.Thr183Asn,pathogenic
P60201:p.Ile187Thr,pathogenic
P60201:p.Phe189Ala,benign
P60201:p.Phe189Asn,benign
P60201:p.Phe189Ser,benign
P60201:p.Phe189Thr,benign
P60201:p.Ser191Thr,benign
P60201:p.Thr193Ile,benign
P60201:p.Ser194Thr,benign
P60201:p.Ala195Thr,benign
P60201:p.Gly198Ser,benign
P60201:p.Ser199Asn,benign
P60201:p.Ser199Thr,benign
P60201:p.Ala202Thr,benign
P60201:p.Asp203Glu,pathogenic
P60201:p.Asp203Gly,pathogenic
P60201:p.Asp203His,pathogenic
P60201:p.Asp203Asn,pathogenic
P60201:p.Asp203Val,pathogenic
P60201:p.Arg205Gly,pathogenic
P60201:p.Tyr207Cys,pathogenic
P60201:p.Val209Asp,pathogenic
P60201:p.Val209Ile,benign
P60201:p.Leu210His,pathogenic
P60201:p.Pro211Leu,pathogenic
P60201:p.Trp212Arg,pathogenic
P60201:p.Ala214Ser,benign
P60201:p.Pro216Ala,pathogenic
P60201:p.Pro216Leu,pathogenic
P60201:p.Pro216Ser,pathogenic
P60201:p.Gly217Ser,pathogenic
P60201:p.Val219Phe,pathogenic
P60201:p.Cys220Tyr,pathogenic
P60201:p.Gly221Cys,pathogenic
P60201:p.Leu224Pro,pathogenic
P60201:p.Leu225Pro,pathogenic
P60201:p.Ser226Pro,pathogenic
P60201:p.Cys228Tyr,pathogenic
P60201:p.Ala231Asn,benign
P60201:p.Ala231Pro,benign
P60201:p.Gln234Pro,pathogenic
P60201:p.Phe237Ser,pathogenic
P60201:p.Leu239Pro,pathogenic
P60201:p.Ala242Pro,pathogenic
P60201:p.Ala243Glu,pathogenic
P60201:p.Ala243Val,pathogenic
P60201:p.Val245Ile,benign
P60201:p.Gly246Ala,pathogenic
P60201:p.Gly246Glu,pathogenic
P60201:p.Ala247Thr,pathogenic
P60201:p.Ala248Glu,pathogenic
P60201:p.Ala249Pro,pathogenic
P60201:p.Val252Ile,benign
P60201:p.Ser253Phe,pathogenic
P60201:p.Leu255Val,benign
P60201:p.Thr256Val,benign
P60201:p.Phe257Tyr,benign
P60201:p.Thr275Phe,benign
Q14896:p.Gly5Arg,pathogenic
Q14896:p.Val19Ala,benign
Q14896:p.Val21Ala,benign
Q14896:p.Ser25Gly,benign
Q14896:p.Ala27Val,benign
Q14896:p.Ala31Val,benign
Q14896:p.Arg44His,benign
Q14896:p.Gly45Arg,benign
Q14896:p.Ser50Gly,benign
Q14896:p.Asn53Asp,benign
Q14896:p.Asn53Ser,benign
Q14896:p.Gly56Ile,benign
Q14896:p.Thr59Ala,pathogenic
Q14896:p.Thr67Ala,benign
Q14896:p.Ser78Ala,benign
Q14896:p.Asp91Glu,benign
Q14896:p.Ile95Thr,benign
Q14896:p.Lys99Glu,benign
Q14896:p.Pro102Ala,benign
Q14896:p.Met103Val,benign
Q14896:p.Ala105Cys,benign
Q14896:p.Ala109Ser,benign
Q14896:p.Ala113Gly,benign
Q14896:p.Gly115Gln,benign
Q14896:p.Ala116Ser,benign
Q14896:p.Ala116Thr,benign
Q14896:p.Ala120Thr,benign
Q14896:p.Pro121Leu,benign
Q14896:p.Ala125Thr,benign
Q14896:p.Gly128Glu,benign
Q14896:p.Ser130Glu,benign
Q14896:p.Ala131Val,benign
Q14896:p.Lys135Glu,benign
Q14896:p.Leu142Pro,benign
Q14896:p.Leu142Arg,benign
Q14896:p.Asn143Ser,benign
Q14896:p.Gly144Ala,benign
Q14896:p.Gly144Asp,benign
Q14896:p.Pro145Thr,benign
Q14896:p.Pro147Ser,benign
Q14896:p.Gly148Glu,benign
Q14896:p.Pro161Ser,pathogenic
Q14896:p.Ala216Thr,benign
Q14896:p.Val219Leu,pathogenic
Q14896:p.Asp228Asn,pathogenic
Q14896:p.Phe233Ser,benign
Q14896:p.Thr234Ala,benign
Q14896:p.Ser236Gly,benign
Q14896:p.Tyr237Ser,pathogenic
Q14896:p.Val256Ile,pathogenic
Q14896:p.His257Pro,pathogenic
Q14896:p.Glu258Lys,pathogenic
Q14896:p.Met260Val,benign
Q14896:p.Thr262Pro,benign
Q14896:p.Gly263Arg,pathogenic
Q14896:p.Leu265Val,benign
Q14896:p.Ala270Ser,benign
Q14896:p.Arg272Cys,pathogenic
Q14896:p.Arg273His,pathogenic
Q14896:p.Gly278Glu,pathogenic
Q14896:p.Gly279Ala,pathogenic
Q14896:p.Arg282Trp,pathogenic
Q14896:p.Asp285Ala,benign
Q14896:p.Thr290Ala,benign
Q14896:p.Asp294Asn,benign
Q14896:p.Arg302Ala,benign
Q14896:p.Arg302Asp,benign
Q14896:p.Arg302Ser,benign
Q14896:p.Asp303Glu,benign
Q14896:p.Asp303Ser,benign
Q14896:p.Thr307Ala,benign
Q14896:p.Pro308Ser,benign
Q14896:p.Ser311Thr,benign
Q14896:p.Ile324Thr,benign
Q14896:p.Ile336Val,pathogenic
Q14896:p.Leu352Pro,pathogenic
Q14896:p.Arg357His,benign
Q14896:p.Ala364Thr,benign
Q14896:p.His390Pro,benign
Q14896:p.Lys395Arg,benign
Q14896:p.Leu397Phe,benign
Q14896:p.Asn399Asp,benign
Q14896:p.Lys409Arg,benign
Q14896:p.Ala417Ser,pathogenic
Q14896:p.Asp430Glu,benign
Q14896:p.Val437Met,benign
Q14896:p.Lys442Asn,benign
Q14896:p.Cys443Phe,benign
Q14896:p.Thr445Ala,benign
Q14896:p.Glu451Gly,benign
Q14896:p.Glu451Gln,pathogenic
Q14896:p.Pro452Glu,benign
Q14896:p.Arg458His,pathogenic
Q14896:p.Gly490Arg,pathogenic
Q14896:p.Gly490Val,pathogenic
Q14896:p.Arg495Gly,pathogenic
Q14896:p.Arg495Gln,pathogenic
Q14896:p.Arg502Gln,pathogenic
Q14896:p.Arg502Trp,pathogenic
Q14896:p.Gly507Arg,pathogenic
Q14896:p.Gln508Arg,benign
Q14896:p.His511Arg,benign
Q14896:p.Asn515Asp,benign
Q14896:p.Met518Thr,benign
Q14896:p.Ala522Met,benign
Q14896:p.Ala522Thr,benign
Q14896:p.Gly523Trp,pathogenic
Q14896:p.Cys528Arg,benign
Q14896:p.Glu542Gln,pathogenic
Q14896:p.Met555Thr,benign
Q14896:p.Cys566Arg,pathogenic
Q14896:p.Val585Leu,benign
Q14896:p.Asp587Asn,benign
Q14896:p.Val592Pro,benign
Q14896:p.Ser593Val,benign
Q14896:p.His594Leu,benign
Q14896:p.Ile595Pro,benign
Q14896:p.Gly596Cys,benign
Q14896:p.Asp604Val,pathogenic
Q14896:p.Asp605Glu,benign
Q14896:p.Pro608Leu,pathogenic
Q14896:p.Arg654His,pathogenic
Q14896:p.Ile655Val,benign
Q14896:p.Arg668His,pathogenic
Q14896:p.Arg668Pro,pathogenic
Q14896:p.Leu669His,pathogenic
Q14896:p.Ile687Val,benign
Q14896:p.Ala693Ser,benign
Q14896:p.Pro694Leu,benign
Q14896:p.Pro694Ser,benign
Q14896:p.Pro699Ser,benign
Q14896:p.Thr705Ala,benign
Q14896:p.Gly706Ala,benign
Q14896:p.Asp709Asn,benign
Q14896:p.Arg733Cys,pathogenic
Q14896:p.Val748Ile,benign
Q14896:p.Asn755Lys,pathogenic
Q14896:p.Glu759Asp,pathogenic
Q14896:p.Gln761Arg,benign
Q14896:p.Lys767Glu,benign
Q14896:p.Asp770Asn,pathogenic
Q14896:p.Ile780Val,benign
Q14896:p.Thr789Met,benign
Q14896:p.Trp792Arg,pathogenic
Q14896:p.Ile803Val,benign
Q14896:p.Arg810His,pathogenic
Q14896:p.Lys811Arg,pathogenic
Q14896:p.Arg820Gln,pathogenic
Q14896:p.Gln827Arg,benign
Q14896:p.Ala833Thr,pathogenic
Q14896:p.Ala833Val,pathogenic
Q14896:p.Arg834Thr,pathogenic
Q14896:p.Arg834Trp,pathogenic
Q14896:p.Met844Thr,benign
Q14896:p.Pro873His,pathogenic
Q14896:p.Pro873Leu,pathogenic
Q14896:p.Val881Ala,benign
Q14896:p.Pro910Leu,benign
Q14896:p.Cys913Gly,benign
Q14896:p.Ala918Thr,benign
Q14896:p.Gln921Arg,benign
Q14896:p.His926Arg,benign
Q14896:p.Ile929Met,benign
Q14896:p.Phe942Ser,benign
Q14896:p.Asn948Thr,pathogenic
Q14896:p.Pro952Ser,benign
Q14896:p.Thr957Ser,pathogenic
Q14896:p.Thr958Ile,pathogenic
Q14896:p.Ile983Val,benign
Q14896:p.Gly988Arg,benign
Q14896:p.Pro990Ala,benign
Q14896:p.Gln998Glu,pathogenic
Q14896:p.Gln998Arg,pathogenic
Q14896:p.Gly999Ala,benign
Q14896:p.Lys1000Met,benign
Q14896:p.Lys1000Gln,benign
Q14896:p.Arg1002Gln,pathogenic
Q14896:p.Pro1003Gln,pathogenic
Q14896:p.Pro1013Ser,benign
Q14896:p.Ala1015Val,benign
Q14896:p.Ile1021Val,benign
Q14896:p.Thr1028Ser,pathogenic
Q14896:p.Val1038Ala,benign
Q14896:p.Arg1073Gln,benign
Q14896:p.Asp1076Glu,benign
Q14896:p.Val1092Asp,benign
Q14896:p.Phe1113Ile,pathogenic
Q14896:p.Val1115Ile,pathogenic
Q14896:p.Met1144Thr,benign
Q14896:p.Phe1147Ser,benign
Q14896:p.Arg1150Thr,benign
Q14896:p.Val1158Ile,benign
Q14896:p.Glu1168Val,benign
Q14896:p.Asn1171Asp,benign
Q14896:p.Val1188Met,benign
Q14896:p.Val1192Ile,benign
Q14896:p.Ala1194Thr,pathogenic
Q14896:p.Thr1197Asn,benign
Q14896:p.Ala1198Thr,benign
Q14896:p.Gly1222Arg,benign
Q14896:p.Glu1223Gly,benign
Q14896:p.Gly1248Arg,pathogenic
Q14896:p.Ala1255Thr,pathogenic
Q14896:p.Thr1256Ala,benign
Q14896:p.Arg1263Gln,benign
Q14896:p.Cys1264Phe,pathogenic
Q14896:p.Val1272Gly,benign
Q14896:p.Gln1274Gly,benign
P03951:p.Ile2Thr,benign
P03951:p.Val7Met,benign
P03951:p.His9Gln,benign
P03951:p.Gln23Arg,benign
P03951:p.Leu25Phe,benign
P03951:p.Thr28Ile,benign
P03951:p.Cys29His,benign
P03951:p.Cys29Ser,benign
P03951:p.Cys29Tyr,benign
P03951:p.Gly32Arg,pathogenic
P03951:p.Asp34His,pathogenic
P03951:p.Thr36Ala,benign
P03951:p.Ala43Thr,pathogenic
P03951:p.Tyr45His,benign
P03951:p.Cys46Phe,pathogenic
P03951:p.Val48Ala,benign
P03951:p.Thr51Ile,pathogenic
P03951:p.Thr51Pro,pathogenic
P03951:p.Tyr52His,benign
P03951:p.His53Gln,pathogenic
P03951:p.Cys56Arg,pathogenic
P03951:p.Ala63Gly,benign
P03951:p.Ala63Val,pathogenic
P03951:p.Pro66Ala,benign
P03951:p.Thr71Ala,benign
P03951:p.Arg72Gln,benign
P03951:p.Ala93Gly,benign
P03951:p.Phe100Leu,benign
P03951:p.Lys101Arg,pathogenic
P03951:p.Ile107Met,benign
P03951:p.Ile114Thr,benign
P03951:p.Val116Leu,benign
P03951:p.Ile123Val,benign
P03951:p.Val129Leu,benign
P03951:p.Lys131Glu,benign
P03951:p.Lys131Thr,benign
P03951:p.Cys140Tyr,pathogenic
P03951:p.Tyr151Cys,pathogenic
P03951:p.Arg154Gly,benign
P03951:p.Gln171Arg,benign
P03951:p.Arg177Gly,benign
P03951:p.Thr179Met,benign
P03951:p.Ser186Thr,benign
P03951:p.Ile204Val,benign
P03951:p.Val209Ala,benign
P03951:p.Val209Met,benign
P03951:p.Ile215Val,benign
P03951:p.Asp222Tyr,pathogenic
P03951:p.Val225Ala,benign
P03951:p.Gly227Ala,benign
P03951:p.Gly227Arg,benign
P03951:p.Arg228Gln,pathogenic
P03951:p.Phe241Leu,pathogenic
P03951:p.Gln244Lys,benign
P03951:p.Trp246Cys,pathogenic
P03951:p.Arg252Thr,pathogenic
P03951:p.Cys255Tyr,pathogenic
P03951:p.Gly263Glu,pathogenic
P03951:p.Ser266Asn,pathogenic
P03951:p.Ser266Arg,benign
P03951:p.Lys270Ile,pathogenic
P03951:p.Ser276Cys,pathogenic
P03951:p.Gly277Asp,pathogenic
P03951:p.Thr299Ala,benign
P03951:p.Phe301Leu,pathogenic
P03951:p.Ala311Val,benign
P03951:p.Lys312Arg,benign
P03951:p.Ser313Gly,benign
P03951:p.Glu315Lys,pathogenic
P03951:p.Leu320Pro,pathogenic
P03951:p.Leu320Ser,benign
P03951:p.Thr322Ile,pathogenic
P03951:p.Asn323Asp,benign
P03951:p.Ala324Thr,benign
P03951:p.Val325Ala,benign
P03951:p.Arg326Cys,pathogenic
P03951:p.Thr331Ile,pathogenic
P03951:p.Thr333Ala,benign
P03951:p.Thr333Val,benign
P03951:p.Gln336His,benign
P03951:p.Ser338Ala,benign
P03951:p.Asn340His,benign
P03951:p.Glu341Lys,pathogenic
P03951:p.Lys343Arg,benign
P03951:p.Leu360Pro,pathogenic
P03951:p.His361Arg,benign
P03951:p.Arg363Thr,benign
P03951:p.Glu379Gly,benign
P03951:p.Trp401Arg,pathogenic
P03951:p.Val403Met,pathogenic
P03951:p.Thr404Asn,pathogenic
P03951:p.Gln412His,benign
P03951:p.Gly418Val,pathogenic
P03951:p.Ala430Val,pathogenic
P03951:p.Ser446Ile,benign
P03951:p.Ser446Thr,benign
P03951:p.Ile454Lys,pathogenic
P03951:p.Phe460Val,pathogenic
P03951:p.Gly462Glu,benign
P03951:p.Ile481Ser,pathogenic
P03951:p.Thr493Ile,pathogenic
P03951:p.Ser503Pro,pathogenic
P03951:p.Asp506Gly,pathogenic
P03951:p.Tyr511His,pathogenic
P03951:p.Cys514Phe,pathogenic
P03951:p.Asp526Glu,pathogenic
P03951:p.Asp526Gly,benign
P03951:p.Pro538Leu,pathogenic
P03951:p.Asn542Ser,benign
P03951:p.Glu543Asp,benign
P03951:p.Lys547Arg,benign
P03951:p.Lys553Ile,benign
P03951:p.Lys553Thr,benign
P03951:p.His556Gln,benign
P03951:p.Lys557Arg,benign
P03951:p.Arg564Lys,benign
P03951:p.Glu565Lys,pathogenic
P03951:p.Cys571Asn,benign
P03951:p.Lys572Asp,benign
P03951:p.Ser575Leu,pathogenic
P03951:p.Trp587Ser,pathogenic
P03951:p.Ser594Arg,pathogenic
P03951:p.Glu597Lys,pathogenic
P03951:p.Tyr608His,pathogenic
P03951:p.Val612Leu,benign
P03951:p.Val615Met,benign
P03951:p.Ile618Ser,pathogenic
P03951:p.Lys621Asn,benign
P03951:p.Val625Ala,benign
Q9UM47:p.Met1Glu,benign
Q9UM47:p.Gly4Arg,benign
Q9UM47:p.Ala5Val,benign
Q9UM47:p.Arg6Pro,benign
Q9UM47:p.Gly7Asp,benign
Q9UM47:p.Arg9Val,benign
Q9UM47:p.Arg13Cys,benign
Q9UM47:p.Arg13Gly,benign
Q9UM47:p.Arg13Met,benign
Q9UM47:p.Pro14Gly,benign
Q9UM47:p.Pro14Arg,benign
Q9UM47:p.Pro14Ser,benign
Q9UM47:p.Met15Pro,benign
Q9UM47:p.Met15Arg,benign
Q9UM47:p.Met15Trp,benign
Q9UM47:p.Ser16Pro,benign
Q9UM47:p.Pro17Gly,benign
Q9UM47:p.Pro17Leu,benign
Q9UM47:p.Pro17Met,benign
Q9UM47:p.Pro18Ser,benign
Q9UM47:p.Pro18Thr,benign
Q9UM47:p.Pro19Arg,benign
Q9UM47:p.Pro20Leu,benign
Q9UM47:p.Pro21Glu,benign
Q9UM47:p.Pro21Leu,benign
Q9UM47:p.Pro22Leu,benign
Q9UM47:p.Pro23Ser,benign
Q9UM47:p.Val24Leu,benign
Q9UM47:p.Arg25Pro,benign
Q9UM47:p.Ala26Val,benign
Q9UM47:p.Leu27Arg,benign
Q9UM47:p.Pro28Ala,benign
Q9UM47:p.Leu30Pro,benign
Q9UM47:p.Ala40Gly,benign
Q9UM47:p.Ala40Val,benign
Q9UM47:p.Cys43Gly,pathogenic
Q9UM47:p.Gly46Arg,benign
Q9UM47:p.Cys49Phe,pathogenic
Q9UM47:p.Cys49Tyr,pathogenic
Q9UM47:p.Arg54Cys,pathogenic
Q9UM47:p.Ser60Cys,pathogenic
Q9UM47:p.Arg61Gln,benign
Q9UM47:p.Cys65Ser,pathogenic
Q9UM47:p.Cys67Tyr,pathogenic
Q9UM47:p.Pro68Leu,benign
Q9UM47:p.Trp71Cys,pathogenic
Q9UM47:p.Arg75Trp,benign
Q9UM47:p.Cys76Arg,pathogenic
Q9UM47:p.Cys76Trp,pathogenic
Q9UM47:p.Cys87Arg,pathogenic
Q9UM47:p.Cys87Tyr,pathogenic
Q9UM47:p.Arg90Cys,pathogenic
Q9UM47:p.Cys93Phe,pathogenic
Q9UM47:p.Cys93Tyr,pathogenic
Q9UM47:p.Cys106Trp,pathogenic
Q9UM47:p.Cys108Trp,pathogenic
Q9UM47:p.Cys108Tyr,pathogenic
Q9UM47:p.Arg110Cys,pathogenic
Q9UM47:p.Cys117Phe,pathogenic
Q9UM47:p.Ser118Cys,pathogenic
Q9UM47:p.Cys123Phe,pathogenic
Q9UM47:p.Cys123Tyr,pathogenic
Q9UM47:p.Cys128Tyr,pathogenic
Q9UM47:p.Gly131Ser,benign
Q9UM47:p.Arg133Cys,pathogenic
Q9UM47:p.Cys134Trp,pathogenic
Q9UM47:p.Pro138Ser,benign
Q9UM47:p.Arg141Cys,pathogenic
Q9UM47:p.Phe142Cys,pathogenic
Q9UM47:p.Leu143Ile,benign
Q9UM47:p.Cys144Phe,pathogenic
Q9UM47:p.Cys144Ser,pathogenic
Q9UM47:p.Cys144Tyr,pathogenic
Q9UM47:p.Ser145Cys,pathogenic
Q9UM47:p.Cys146Arg,pathogenic
Q9UM47:p.Gly149Cys,pathogenic
Q9UM47:p.Tyr150Cys,pathogenic
Q9UM47:p.Arg153Cys,pathogenic
Q9UM47:p.Cys155Ser,pathogenic
Q9UM47:p.Val159Ile,benign
Q9UM47:p.Cys162Ser,pathogenic
Q9UM47:p.Glu166Gly,benign
Q9UM47:p.Arg169Cys,pathogenic
Q9UM47:p.Gly171Cys,pathogenic
Q9UM47:p.Cys174Phe,pathogenic
Q9UM47:p.Cys174Arg,pathogenic
Q9UM47:p.Cys174Tyr,pathogenic
Q9UM47:p.Ser180Cys,pathogenic
Q9UM47:p.Arg182Cys,pathogenic
Q9UM47:p.Arg182His,benign
Q9UM47:p.Cys183Phe,pathogenic
Q9UM47:p.Cys183Arg,pathogenic
Q9UM47:p.Cys183Ser,pathogenic
Q9UM47:p.Cys185Gly,pathogenic
Q9UM47:p.Cys185Arg,pathogenic
Q9UM47:p.Ala187Asn,benign
Q9UM47:p.Tyr189Cys,pathogenic
Q9UM47:p.Pro192Ser,benign
Q9UM47:p.Cys194Phe,pathogenic
Q9UM47:p.Cys194Arg,pathogenic
Q9UM47:p.Cys194Ser,pathogenic
Q9UM47:p.Cys194Tyr,pathogenic
Q9UM47:p.Pro197Thr,benign
Q9UM47:p.Ala198Ile,benign
Q9UM47:p.Ala198Thr,benign
Q9UM47:p.Cys201Tyr,pathogenic
Q9UM47:p.Pro205Leu,benign
Q9UM47:p.Cys206Tyr,pathogenic
Q9UM47:p.Arg207Cys,pathogenic
Q9UM47:p.Cys212Ser,pathogenic
Q9UM47:p.Arg213Lys,pathogenic
Q9UM47:p.Ser215Asn,benign
Q9UM47:p.Leu218Phe,benign
Q9UM47:p.Cys222Gly,pathogenic
Q9UM47:p.Cys222Tyr,pathogenic
Q9UM47:p.Cys224Tyr,pathogenic
Q9UM47:p.Cys233Ser,pathogenic
Q9UM47:p.Cys233Tyr,pathogenic
Q9UM47:p.Cys240Ser,pathogenic
Q9UM47:p.Arg244Gln,benign
Q9UM47:p.Cys245Arg,pathogenic
Q9UM47:p.Cys251Arg,pathogenic
Q9UM47:p.Tyr258Cys,pathogenic
Q9UM47:p.Cys260Tyr,pathogenic
Q9UM47:p.Ala319Cys,pathogenic
Q9UM47:p.Arg332Cys,pathogenic
Q9UM47:p.Ser335Cys,pathogenic
Q9UM47:p.Tyr337Cys,pathogenic
Q9UM47:p.Cys379Ser,pathogenic
Q9UM47:p.Cys395Arg,pathogenic
Q9UM47:p.Gly420Cys,pathogenic
Q9UM47:p.Arg421Cys,pathogenic
Q9UM47:p.Cys428Ser,pathogenic
Q9UM47:p.Cys428Tyr,pathogenic
Q9UM47:p.Cys440Gly,pathogenic
Q9UM47:p.Cys440Arg,pathogenic
Q9UM47:p.Cys446Ser,pathogenic
Q9UM47:p.Arg449Cys,pathogenic
Q9UM47:p.Cys455Arg,pathogenic
Q9UM47:p.Val483Ile,benign
Q9UM47:p.Cys484Phe,pathogenic
Q9UM47:p.Cys484Tyr,pathogenic
Q9UM47:p.Ser492Thr,benign
Q9UM47:p.Thr494Ala,benign
Q9UM47:p.Cys495Tyr,pathogenic
Q9UM47:p.Cys511Arg,pathogenic
Q9UM47:p.Gln525His,benign
Q9UM47:p.Thr540Met,benign
Q9UM47:p.Cys542Tyr,pathogenic
Q9UM47:p.Asp543Glu,benign
Q9UM47:p.Arg544Cys,pathogenic
Q9UM47:p.Arg544His,benign
Q9UM47:p.Cys549Tyr,pathogenic
Q9UM47:p.Arg558Cys,pathogenic
Q9UM47:p.Arg578Cys,pathogenic
Q9UM47:p.Arg607Cys,pathogenic
Q9UM47:p.Ser610Pro,benign
Q9UM47:p.Thr630Ser,benign
Q9UM47:p.Ser664Asn,benign
Q9UM47:p.Val673Met,benign
Q9UM47:p.Arg680Ser,benign
Q9UM47:p.Ser696Thr,benign
Q9UM47:p.Glu702Asp,benign
Q9UM47:p.Pro703Ser,benign
Q9UM47:p.Ser705Asn,benign
Q9UM47:p.Tyr710Cys,pathogenic
Q9UM47:p.Tyr710His,benign
Q9UM47:p.Arg728Cys,pathogenic
Q9UM47:p.Arg744Gly,benign
Q9UM47:p.Ser750Ile,benign
Q9UM47:p.Met754Ala,benign
Q9UM47:p.Met754Ile,benign
Q9UM47:p.Gly755Ser,benign
Q9UM47:p.Val764Phe,benign
Q9UM47:p.Cys775Ser,pathogenic
Q9UM47:p.Arg785His,benign
Q9UM47:p.Arg785Leu,benign
Q9UM47:p.Ala789Thr,benign
Q9UM47:p.Pro794Ala,benign
Q9UM47:p.Pro794Thr,benign
Q9UM47:p.Gln800Pro,benign
Q9UM47:p.Gly801Ser,benign
Q9UM47:p.Pro805Ser,benign
Q9UM47:p.Gly816Ser,benign
Q9UM47:p.Ala818Ser,benign
Q9UM47:p.Pro822Ala,benign
Q9UM47:p.Ile825Ser,benign
Q9UM47:p.Ser832Gly,benign
Q9UM47:p.Asp849Asn,benign
Q9UM47:p.Asn856Asp,benign
Q9UM47:p.Ser863Leu,benign
Q9UM47:p.Gly867Ser,benign
Q9UM47:p.Pro877Ala,benign
Q9UM47:p.Pro877His,benign
Q9UM47:p.Arg886His,benign
Q9UM47:p.Asn894Ser,benign
Q9UM47:p.Gln923Lys,benign
Q9UM47:p.Asp927Asn,benign
Q9UM47:p.Arg951Ser,benign
Q9UM47:p.Gly953Cys,pathogenic
Q9UM47:p.Thr955Leu,benign
Q9UM47:p.His961Tyr,benign
Q9UM47:p.Val976Ile,benign
Q9UM47:p.Ala979Ser,benign
Q9UM47:p.Ala980Thr,benign
Q9UM47:p.Pro982Ser,benign
Q9UM47:p.Phe984Cys,pathogenic
Q9UM47:p.Arg985Cys,pathogenic
Q9UM47:p.Arg985His,benign
Q9UM47:p.Thr987Ala,benign
Q9UM47:p.Thr987Ser,benign
Q9UM47:p.Leu989Pro,benign
Q9UM47:p.Leu989Arg,benign
Q9UM47:p.Glu990Gln,benign
Q9UM47:p.Ser991Gly,benign
Q9UM47:p.Pro995Ser,benign
Q9UM47:p.Thr999Lys,benign
Q9UM47:p.Arg1006Cys,pathogenic
Q9UM47:p.Arg1006His,benign
Q9UM47:p.Gln1007Glu,benign
Q9UM47:p.Cys1015Arg,pathogenic
Q9UM47:p.Val1016Ile,benign
Q9UM47:p.Thr1018Asn,benign
Q9UM47:p.Tyr1021Cys,pathogenic
Q9UM47:p.Arg1031Cys,pathogenic
Q9UM47:p.Arg1036Gln,benign
Q9UM47:p.Arg1050Gln,benign
Q9UM47:p.Leu1051Pro,benign
Q9UM47:p.Ala1057Val,benign
Q9UM47:p.Asp1063Cys,pathogenic
Q9UM47:p.Glu1064Gln,benign
Q9UM47:p.Pro1073Leu,benign
Q9UM47:p.Arg1076His,benign
Q9UM47:p.His1080Tyr,benign
Q9UM47:p.Gln1083His,benign
Q9UM47:p.Gln1083Leu,benign
Q9UM47:p.Thr1098Arg,benign
Q9UM47:p.Gly1101Ala,benign
Q9UM47:p.Met1107Val,benign
Q9UM47:p.Leu1111Pro,benign
Q9UM47:p.Pro1112Ala,benign
Q9UM47:p.Asn1115Ile,benign
Q9UM47:p.Asn1115Ser,benign
Q9UM47:p.Asp1117Glu,benign
Q9UM47:p.Val1123Met,benign
Q9UM47:p.Ala1127Thr,benign
Q9UM47:p.Ala1142Asp,benign
Q9UM47:p.Gly1151Arg,benign
Q9UM47:p.Pro1169Leu,benign
Q9UM47:p.His1178Asn,benign
Q9UM47:p.Arg1190His,benign
Q9UM47:p.Thr1192Asn,benign
Q9UM47:p.Arg1201His,benign
Q9UM47:p.Ser1211Pro,benign
Q9UM47:p.Ala1216Ser,benign
Q9UM47:p.Pro1226Ala,benign
Q9UM47:p.Gly1229His,benign
Q9UM47:p.Arg1231Cys,pathogenic
Q9UM47:p.Arg1231Leu,benign
Q9UM47:p.Ser1239Thr,benign
Q9UM47:p.Ser1248Ala,benign
Q9UM47:p.Cys1261Arg,pathogenic
Q9UM47:p.Cys1261Tyr,pathogenic
Q9UM47:p.Ala1278Val,benign
Q9UM47:p.Pro1280Gly,benign
Q9UM47:p.Pro1280Asn,benign
Q9UM47:p.Pro1280Ser,benign
Q9UM47:p.Pro1280Val,benign
Q9UM47:p.Phe1281Leu,benign
Q9UM47:p.Phe1281Val,benign
Q9UM47:p.Trp1282Phe,benign
Q9UM47:p.Trp1282Gly,benign
Q9UM47:p.Pro1284Gly,benign
Q9UM47:p.Pro1284His,benign
Q9UM47:p.Arg1285Leu,benign
Q9UM47:p.Cys1286Trp,benign
Q9UM47:p.Glu1287Arg,benign
Q9UM47:p.Arg1288Gln,benign
Q9UM47:p.Val1289Gly,benign
Q9UM47:p.Ala1290Arg,benign
Q9UM47:p.Arg1291Val,benign
Q9UM47:p.Ser1292Ala,benign
Q9UM47:p.Ser1292Gly,benign
Q9UM47:p.Cys1293Ser,benign
Q9UM47:p.Arg1294Gly,benign
Q9UM47:p.Glu1295Val,benign
Q9UM47:p.Leu1296Pro,benign
Q9UM47:p.Gln1297Pro,benign
Q9UM47:p.Cys1298Thr,benign
Q9UM47:p.Pro1299Phe,benign
Q9UM47:p.Val1300Pro,benign
Q9UM47:p.Val1302Gly,benign
Q9UM47:p.Pro1303Gly,benign
Q9UM47:p.Pro1303His,benign
Q9UM47:p.Pro1303Leu,benign
Q9UM47:p.Cys1304Ala,benign
Q9UM47:p.Cys1304Lys,benign
Q9UM47:p.Cys1304Leu,benign
Q9UM47:p.Gln1305Gly,benign
Q9UM47:p.Gln1305Ser,benign
Q9UM47:p.Gln1305Trp,benign
Q9UM47:p.Gln1306Lys,benign
Q9UM47:p.Gln1306Arg,benign
Q9UM47:p.Thr1307His,benign
Q9UM47:p.Thr1307Arg,benign
Q9UM47:p.Pro1308Ala,benign
Q9UM47:p.Pro1308Gly,benign
Q9UM47:p.Arg1309Ala,benign
Q9UM47:p.Pro1311Gly,benign
Q9UM47:p.Pro1311Arg,benign
Q9UM47:p.Arg1312Ala,benign
Q9UM47:p.Arg1312Glu,benign
Q9UM47:p.Cys1313Ala,benign
Q9UM47:p.Cys1313Gly,benign
Q9UM47:p.Ala1314Leu,benign
Q9UM47:p.Ala1314Thr,benign
Q9UM47:p.Cys1315Ala,benign
Q9UM47:p.Cys1315Pro,benign
Q9UM47:p.Cys1315Trp,benign
Q9UM47:p.Pro1317Leu,benign
Q9UM47:p.Leu1319Val,benign
Q9UM47:p.Ser1320Ala,benign
Q9UM47:p.Pro1322Arg,benign
Q9UM47:p.Pro1322Ser,benign
Q9UM47:p.Ser1323Val,benign
Q9UM47:p.Arg1325Gln,benign
Q9UM47:p.Ser1326Gly,benign
Q9UM47:p.Phe1327Ser,benign
Q9UM47:p.Pro1328Arg,benign
Q9UM47:p.Pro1328Ser,benign
Q9UM47:p.Pro1328Val,benign
Q9UM47:p.Pro1331Ser,benign
Q9UM47:p.Pro1332Leu,benign
Q9UM47:p.Pro1332Gln,benign
Q9UM47:p.Ala1334Glu,benign
Q9UM47:p.Ser1335Ala,benign
Q9UM47:p.Ser1335Arg,benign
Q9UM47:p.Ser1335Thr,benign
Q9UM47:p.Asn1336Leu,benign
Q9UM47:p.Ser1338Thr,benign
Q9UM47:p.Cys1339Pro,benign
Q9UM47:p.Ala1340Asn,benign
Q9UM47:p.Ala1340Val,benign
Q9UM47:p.Ala1341Leu,benign
Q9UM47:p.Ala1342Leu,benign
Q9UM47:p.Ala1342Thr,benign
Q9UM47:p.Cys1344Asn,benign
Q9UM47:p.Leu1345Arg,benign
Q9UM47:p.His1346Ser,benign
Q9UM47:p.Gly1348Pro,benign
Q9UM47:p.Gly1348Ser,benign
Q9UM47:p.Ser1349Gly,benign
Q9UM47:p.Ser1349Arg,benign
Q9UM47:p.Cys1350Ala,benign
Q9UM47:p.Cys1350Val,benign
Q9UM47:p.Arg1351Glu,benign
Q9UM47:p.Pro1352Ala,benign
Q9UM47:p.Pro1352Arg,benign
Q9UM47:p.Ala1353Met,benign
Q9UM47:p.Pro1354Ala,benign
Q9UM47:p.Leu1355Arg,benign
Q9UM47:p.Ala1356Phe,benign
Q9UM47:p.Ala1356Arg,benign
Q9UM47:p.Ala1356Ser,benign
Q9UM47:p.Pro1357Arg,benign
Q9UM47:p.Phe1358Glu,benign
Q9UM47:p.Phe1359Tyr,benign
Q9UM47:p.Ala1362Leu,benign
Q9UM47:p.Ala1362Thr,benign
Q9UM47:p.Ala1364Thr,benign
Q9UM47:p.Ala1364Val,benign
Q9UM47:p.Gln1365Pro,benign
Q9UM47:p.Thr1368Asp,benign
Q9UM47:p.Ala1374Thr,benign
Q9UM47:p.Ala1376Pro,benign
Q9UM47:p.Ala1376Val,benign
Q9UM47:p.Ala1377Glu,benign
Q9UM47:p.Ala1377Ser,benign
Q9UM47:p.Ala1377Val,benign
Q9UM47:p.Ala1378Val,benign
Q9UM47:p.Pro1379Ser,benign
Q9UM47:p.Val1381Ile,benign
Q9UM47:p.Ser1382Thr,benign
Q9UM47:p.Ala1390Val,benign
Q9UM47:p.Gln1399Lys,benign
Q9UM47:p.Ser1418Pro,benign
Q9UM47:p.Leu1419Val,benign
Q9UM47:p.Val1421Gly,benign
Q9UM47:p.Ala1460Thr,benign
Q9UM47:p.Leu1519Pro,pathogenic
Q9UM47:p.His1550Arg,benign
Q9UM47:p.Ser1562Asn,benign
Q9UM47:p.Gly1564Asp,benign
Q9UM47:p.Pro1567Leu,benign
Q9UM47:p.Pro1567Ser,benign
Q9UM47:p.Ala1569Thr,benign
Q9UM47:p.Ser1580Glu,benign
Q9UM47:p.Val1581Met,benign
Q9UM47:p.Val1582Arg,benign
Q9UM47:p.Met1583Leu,benign
Q9UM47:p.Leu1584Ile,benign
Q9UM47:p.Glu1585Gln,benign
Q9UM47:p.Ile1586Val,benign
Q9UM47:p.Leu1592Met,benign
Q9UM47:p.Gln1593Ser,benign
Q9UM47:p.Ser1594Gly,benign
Q9UM47:p.Pro1595Ala,benign
Q9UM47:p.Glu1596Pro,benign
Q9UM47:p.Asn1597Pro,benign
Q9UM47:p.Asp1598Pro,benign
Q9UM47:p.His1599Gly,benign
Q9UM47:p.Phe1601Asp,benign
Q9UM47:p.Pro1602Glu,benign
Q9UM47:p.Asp1603Gln,benign
Q9UM47:p.Ala1604Lys,benign
Q9UM47:p.Gln1605Met,benign
Q9UM47:p.Ser1606Pro,benign
Q9UM47:p.Ala1607Pro,benign
Q9UM47:p.Ala1608Asp,benign
Q9UM47:p.Leu1614Ser,benign
Q9UM47:p.Ser1615Ala,benign
Q9UM47:p.Ala1616Ser,benign
Q9UM47:p.Val1617Gly,benign
Q9UM47:p.Glu1618Val,benign
Q9UM47:p.Arg1619Glu,benign
Q9UM47:p.Asp1621Pro,benign
Q9UM47:p.Phe1622Ser,benign
Q9UM47:p.Tyr1624Ala,benign
Q9UM47:p.Leu1626Cys,benign
Q9UM47:p.Arg1627Phe,benign
Q9UM47:p.Asp1628Leu,benign
Q9UM47:p.Val1629Leu,benign
Q9UM47:p.Arg1630Leu,benign
Q9UM47:p.Leu1634Met,benign
Q9UM47:p.Pro1636Leu,benign
Q9UM47:p.Val1648Ala,benign
Q9UM47:p.Val1648Leu,benign
Q9UM47:p.Leu1653Phe,benign
Q9UM47:p.Ser1681Ala,benign
Q9UM47:p.Ser1688Ala,benign
Q9UM47:p.Ser1688Thr,benign
Q9UM47:p.Ala1718Gly,benign
Q9UM47:p.Pro1737Leu,benign
Q9UM47:p.Ala1744Pro,benign
Q9UM47:p.Val1762Met,benign
Q9UM47:p.Ala1802Thr,benign
Q9UM47:p.Met1806Ile,benign
Q9UM47:p.Thr1808Ala,benign
Q9UM47:p.Thr1808Ile,benign
Q9UM47:p.Ser1970Thr,benign
Q9UM47:p.Tyr1985Phe,benign
Q9UM47:p.Pro2036Thr,benign
Q9UM47:p.Ala2056Thr,benign
Q9UM47:p.Ser2060Ala,benign
Q9UM47:p.Pro2067Ala,benign
Q9UM47:p.Gln2075Lys,benign
Q9UM47:p.Pro2077Ala,benign
Q9UM47:p.Asp2094Glu,benign
Q9UM47:p.Gly2119Ser,benign
Q9UM47:p.Thr2131Ala,benign
Q9UM47:p.Pro2143Thr,benign
Q9UM47:p.Leu2195Met,benign
Q9UM47:p.Val2214Ala,benign
Q9UM47:p.Glu2253Asp,benign
Q9UM47:p.Glu2268Asp,benign
Q9UM47:p.Thr2277Ser,benign
Q9UM47:p.Met2280Thr,benign
Q9UM47:p.Thr2283Ala,benign
Q9UM47:p.Thr2283Ser,benign
Q9UM47:p.Thr2284Ala,benign
Q9UM47:p.Gly2285Thr,benign
Q9UM47:p.Ala2286Gly,benign
Q9UM47:p.Ala2286Thr,benign
Q9UM47:p.Ala2289Ser,benign
Q9UM47:p.Leu2292Phe,benign
Q9UM47:p.Leu2292His,benign
Q9UM47:p.Ser2295Thr,benign
Q9UM47:p.Pro2311Ser,benign
P35498:p.Gln3Pro,benign
P35498:p.Asn15His,benign
P35498:p.Asn15Arg,benign
P35498:p.Asn15Ser,benign
P35498:p.Asn15Thr,benign
P35498:p.Phe16Tyr,benign
P35498:p.Arg27Gln,benign
P35498:p.Arg27Ser,benign
P35498:p.Arg27Thr,pathogenic
P35498:p.Lys35Gln,benign
P35498:p.Asn36Ser,benign
P35498:p.Asp40Glu,benign
P35498:p.Lys42Asn,benign
P35498:p.Asp45Glu,benign
P35498:p.Asn47His,benign
P35498:p.Asn47Arg,benign
P35498:p.Pro49Ser,benign
P35498:p.Pro51Ala,benign
P35498:p.Lys59Arg,benign
P35498:p.Asn60Ser,benign
P35498:p.Phe63Leu,pathogenic
P35498:p.Ile68Val,benign
P35498:p.Glu71Asp,benign
P35498:p.Glu71Gly,benign
P35498:p.Ser74Pro,pathogenic
P35498:p.Pro76Ala,benign
P35498:p.Glu78Asp,pathogenic
P35498:p.Asp79His,pathogenic
P35498:p.Leu80Met,benign
P35498:p.Tyr83Phe,benign
P35498:p.Tyr84Cys,pathogenic
P35498:p.Ile85Val,benign
P35498:p.Lys88Asn,benign
P35498:p.Phe90Ser,pathogenic
P35498:p.Ile91Thr,pathogenic
P35498:p.Arg101Gln,pathogenic
P35498:p.Arg101Trp,pathogenic
P35498:p.Ser103Gly,pathogenic
P35498:p.Ile110Val,benign
P35498:p.Thr112Ile,pathogenic
P35498:p.Leu117Ile,benign
P35498:p.Arg118Ser,pathogenic
P35498:p.Ile120Val,benign
P35498:p.Ile124Asn,pathogenic
P35498:p.Val126Leu,benign
P35498:p.His127Pro,benign
P35498:p.His127Arg,benign
P35498:p.Ser128Lys,benign
P35498:p.Ser128Thr,benign
P35498:p.Leu129Ile,benign
P35498:p.Leu129Met,benign
P35498:p.Leu129Tyr,benign
P35498:p.Phe130Ser,benign
P35498:p.Phe130Tyr,benign
P35498:p.Ser131Phe,benign
P35498:p.Ser131His,benign
P35498:p.Ser131Ile,benign
P35498:p.Ser131Pro,benign
P35498:p.Ser131Val,benign
P35498:p.Leu133Ile,benign
P35498:p.Ile134Phe,benign
P35498:p.Met135Tyr,benign
P35498:p.Cys136Ala,benign
P35498:p.Ile138Leu,benign
P35498:p.Thr140Ile,benign
P35498:p.Asn141Lys,benign
P35498:p.Asn141Leu,benign
P35498:p.Cys142Ile,benign
P35498:p.Val143Leu,benign
P35498:p.Phe144His,benign
P35498:p.Met145Lys,benign
P35498:p.Met145Thr,pathogenic
P35498:p.Thr146Gly,benign
P35498:p.Met147Lys,benign
P35498:p.Ser148Gly,benign
P35498:p.Ser148Leu,benign
P35498:p.Asn149Ser,benign
P35498:p.Asn149Thr,benign
P35498:p.Pro150Asn,benign
P35498:p.Pro151Ser,benign
P35498:p.Asp152Glu,benign
P35498:p.Asp152Phe,benign
P35498:p.Lys155Leu,benign
P35498:p.Asn156Val,benign
P35498:p.Val157Pro,benign
P35498:p.Glu158Arg,benign
P35498:p.Thr162Pro,pathogenic
P35498:p.Ile171Lys,pathogenic
P35498:p.Ile174Val,benign
P35498:p.Ala175Thr,pathogenic
P35498:p.Gly177Glu,pathogenic
P35498:p.Leu180Ile,benign
P35498:p.Asp188Val,pathogenic
P35498:p.Trp190Arg,pathogenic
P35498:p.Asn191Tyr,pathogenic
P35498:p.Asp194Asn,pathogenic
P35498:p.Thr199Arg,pathogenic
P35498:p.Thr217Lys,pathogenic
P35498:p.Thr226Met,pathogenic
P35498:p.Ile227Ser,pathogenic
P35498:p.Ala239Thr,pathogenic
P35498:p.Ala239Val,pathogenic
P35498:p.Ile252Asn,pathogenic
P35498:p.Ser259Arg,pathogenic
P35498:p.Gly265Trp,pathogenic
P35498:p.Ile278Val,benign
P35498:p.Trp280Arg,pathogenic
P35498:p.Pro282Ala,benign
P35498:p.Thr283Ala,benign
P35498:p.Thr283Ser,benign
P35498:p.Ala285Ser,benign
P35498:p.Leu287Tyr,benign
P35498:p.Ser291Thr,benign
P35498:p.Ile292Phe,benign
P35498:p.Ile292Thr,benign
P35498:p.Ile292Val,benign
P35498:p.Glu293Gln,benign
P35498:p.Lys294Arg,benign
P35498:p.Asn295Glu,benign
P35498:p.Asn295Thr,benign
P35498:p.Asn295Val,benign
P35498:p.Ile296Met,benign
P35498:p.Ile296Thr,benign
P35498:p.Ile296Val,benign
P35498:p.Thr297Phe,benign
P35498:p.Thr297Ile,pathogenic
P35498:p.Thr297Ser,benign
P35498:p.Val298Ile,benign
P35498:p.Val298Lys,benign
P35498:p.Val298Met,benign
P35498:p.Val298Arg,benign
P35498:p.Val298Thr,benign
P35498:p.Asn299Asp,benign
P35498:p.Asn299Gly,benign
P35498:p.Asn299Ser,benign
P35498:p.Tyr300Asp,benign
P35498:p.Tyr300Asn,benign
P35498:p.Tyr300Thr,benign
P35498:p.Leu304Phe,benign
P35498:p.Leu304Ile,benign
P35498:p.Leu304Val,benign
P35498:p.Ile305Val,benign
P35498:p.Glu307Arg,benign
P35498:p.Val309Glu,benign
P35498:p.Val309Phe,benign
P35498:p.Val309His,benign
P35498:p.Val309Ile,benign
P35498:p.Val309Leu,benign
P35498:p.Val309Gln,benign
P35498:p.Val309Arg,benign
P35498:p.Val309Tyr,benign
P35498:p.Phe310Ile,benign
P35498:p.Phe310Leu,benign
P35498:p.Phe310Met,benign
P35498:p.Phe310Asn,benign
P35498:p.Phe310Thr,benign
P35498:p.Phe310Val,benign
P35498:p.Phe310Tyr,benign
P35498:p.Glu311Asp,benign
P35498:p.Glu311Asn,benign
P35498:p.Glu311Val,benign
P35498:p.Lys315Thr,benign
P35498:p.Ser316Gly,benign
P35498:p.Ser316Asn,benign
P35498:p.Ser316Thr,benign
P35498:p.Ile318Thr,benign
P35498:p.Ile318Val,benign
P35498:p.Gln319Glu,benign
P35498:p.Gln319Lys,benign
P35498:p.Ser321Ala,benign
P35498:p.Ser321Glu,benign
P35498:p.Ser321Lys,benign
P35498:p.Ser321Pro,benign
P35498:p.Ser321Arg,benign
P35498:p.Ser321Thr,benign
P35498:p.Arg322Ile,pathogenic
P35498:p.Arg322Lys,benign
P35498:p.Tyr323Asn,benign
P35498:p.His324Phe,benign
P35498:p.His324Trp,benign
P35498:p.Tyr325Cys,benign
P35498:p.Phe326Ile,benign
P35498:p.Phe326Leu,benign
P35498:p.Phe326Tyr,benign
P35498:p.Leu327Lys,benign
P35498:p.Leu327Pro,benign
P35498:p.Glu328Asn,benign
P35498:p.Phe330Ile,benign
P35498:p.Phe330Leu,benign
P35498:p.Phe330Val,benign
P35498:p.Phe330Tyr,benign
P35498:p.Leu331Met,benign
P35498:p.Leu331Ser,benign
P35498:p.Gly343Asp,pathogenic
P35498:p.Gln344His,benign
P35498:p.Met350Ile,benign
P35498:p.Met350Thr,benign
P35498:p.Met350Val,benign
P35498:p.Val352Leu,benign
P35498:p.Val352Met,benign
P35498:p.Ala354Thr,benign
P35498:p.Arg356Gly,pathogenic
P35498:p.Pro358Thr,pathogenic
P35498:p.Asp366Glu,pathogenic
P35498:p.Ser374Ala,benign
P35498:p.Arg377Gln,pathogenic
P35498:p.Phe383Leu,pathogenic
P35498:p.Tyr388His,pathogenic
P35498:p.Arg393Cys,pathogenic
P35498:p.Arg393His,pathogenic
P35498:p.Arg393Ser,pathogenic
P35498:p.Ala395Pro,pathogenic
P35498:p.Phe403Leu,pathogenic
P35498:p.Val406Phe,pathogenic
P35498:p.Tyr413Asn,pathogenic
P35498:p.Ile415Val,benign
P35498:p.Val422Glu,pathogenic
P35498:p.Tyr426Asn,pathogenic
P35498:p.Leu434Met,benign
P35498:p.Met447Ile,benign
P35498:p.Ile448Leu,benign
P35498:p.Lys452Arg,benign
P35498:p.Glu456Asp,benign
P35498:p.Ala457Thr,benign
P35498:p.Gln459His,benign
P35498:p.Gln460Ala,benign
P35498:p.Gln460His,benign
P35498:p.Ala462Ser,benign
P35498:p.Ala462Thr,benign
P35498:p.Ala462Val,benign
P35498:p.Thr463Ala,benign
P35498:p.Thr463Ser,benign
P35498:p.Thr463Val,benign
P35498:p.Ala464Ile,benign
P35498:p.Ala464Thr,benign
P35498:p.Ala464Val,benign
P35498:p.Thr465Ser,benign
P35498:p.Ala466Gly,benign
P35498:p.Ala466Thr,benign
P35498:p.Ala466Val,benign
P35498:p.Glu468Asp,benign
P35498:p.Glu468Val,benign
P35498:p.Arg471Lys,benign
P35498:p.Glu472Asp,benign
P35498:p.Pro473Ala,benign
P35498:p.Ala475Thr,benign
P35498:p.Ala476Gly,benign
P35498:p.Ala476Thr,benign
P35498:p.Ala476Val,benign
P35498:p.Arg478Gly,benign
P35498:p.Asp481Glu,benign
P35498:p.Asp481Arg,benign
P35498:p.Ser482Thr,benign
P35498:p.Ala486Val,benign
P35498:p.Glu517Asp,benign
P35498:p.Gln521His,benign
P35498:p.Asp527Glu,benign
P35498:p.Asp527Gly,benign
P35498:p.Ile529Val,benign
P35498:p.Gly533Ala,benign
P35498:p.Gly533Thr,benign
P35498:p.Arg535Pro,benign
P35498:p.Lys547Asn,benign
P35498:p.Arg548Lys,benign
P35498:p.Tyr549Asn,benign
P35498:p.Leu563Ile,benign
P35498:p.Leu563Val,benign
P35498:p.Thr572Ala,benign
P35498:p.Ala581Gly,benign
P35498:p.Val584Met,benign
P35498:p.Arg604His,pathogenic
P35498:p.Arg612Gln,benign
P35498:p.Arg613Gln,benign
P35498:p.Gly615Ala,benign
P35498:p.Leu622Ile,benign
P35498:p.Thr625Ala,benign
P35498:p.Arg630Lys,benign
P35498:p.Met631Thr,benign
P35498:p.Met631Val,benign
P35498:p.Val634Gly,benign
P35498:p.Val634Met,benign
P35498:p.Phe635Leu,benign
P35498:p.Ala637Thr,benign
P35498:p.Ala637Val,benign
P35498:p.Asn638Ser,benign
P35498:p.Thr644Ser,benign
P35498:p.Val659Ala,benign
P35498:p.Asn681His,benign
P35498:p.Glu688Asp,benign
P35498:p.Met689Ile,benign
P35498:p.Met689Val,benign
P35498:p.Arg690Lys,benign
P35498:p.His698Gln,benign
P35498:p.Val699Ala,benign
P35498:p.Val699Ile,benign
P35498:p.Met701Leu,benign
P35498:p.Met701Thr,benign
P35498:p.Glu705His,benign
P35498:p.Asp706Ser,benign
P35498:p.Pro707Gln,benign
P35498:p.Ser708Ile,benign
P35498:p.Ser708Lys,benign
P35498:p.Ser708Thr,benign
P35498:p.Ser708Val,benign
P35498:p.Gln709Lys,benign
P35498:p.Gln711Lys,benign
P35498:p.Ala713Asn,benign
P35498:p.Met714Leu,benign
P35498:p.Met714Val,benign
P35498:p.Ser715Leu,benign
P35498:p.Ile716Phe,benign
P35498:p.Ile716Leu,benign
P35498:p.Ile716Val,benign
P35498:p.Ala717Leu,benign
P35498:p.Ser718Leu,benign
P35498:p.Ile719Leu,benign
P35498:p.Leu720Phe,benign
P35498:p.Leu720Ile,benign
P35498:p.Thr721Leu,benign
P35498:p.Thr723Leu,benign
P35498:p.Ser742Ala,benign
P35498:p.Ile744Met,benign
P35498:p.Tyr753His,benign
P35498:p.Leu755Ser,benign
P35498:p.Val760Ile,benign
P35498:p.Val764Ile,benign
P35498:p.Ala773Thr,benign
P35498:p.Leu783Pro,pathogenic
P35498:p.Tyr790Cys,pathogenic
P35498:p.Asp794Ala,benign
P35498:p.Asp794Glu,benign
P35498:p.Asp794Lys,benign
P35498:p.Asp794Pro,benign
P35498:p.His795Gln,benign
P35498:p.Asn798His,benign
P35498:p.Thr801Ala,benign
P35498:p.Thr801Lys,benign
P35498:p.Thr801Ser,benign
P35498:p.Phe807Leu,benign
P35498:p.Thr808Glu,benign
P35498:p.Thr808Ser,pathogenic
P35498:p.Thr812Arg,pathogenic
P35498:p.Ala813Gly,benign
P35498:p.Glu830Ala,benign
P35498:p.Glu846Lys,pathogenic
P35498:p.Asn851Asp,benign
P35498:p.Arg859Cys,pathogenic
P35498:p.Arg862Gln,pathogenic
P35498:p.Leu863Phe,benign
P35498:p.Thr875Lys,pathogenic
P35498:p.Thr875Met,pathogenic
P35498:p.Phe902Cys,pathogenic
P35498:p.Ala924Asn,benign
P35498:p.Ala924Ser,benign
P35498:p.Ser925Gly,benign
P35498:p.Ser925Pro,benign
P35498:p.Ser925Arg,benign
P35498:p.Ser925Thr,benign
P35498:p.Asp926Glu,benign
P35498:p.Asp926Asn,benign
P35498:p.Asp926Ser,benign
P35498:p.Asp926Thr,benign
P35498:p.Gln928Glu,benign
P35498:p.Gln928Lys,benign
P35498:p.Gln928Thr,benign
P35498:p.Arg931Cys,pathogenic
P35498:p.Met934Ile,pathogenic
P35498:p.Asn935His,benign
P35498:p.Asn935Tyr,benign
P35498:p.His939Gln,pathogenic
P35498:p.His939Tyr,pathogenic
P35498:p.Leu942Pro,pathogenic
P35498:p.Val944Ala,pathogenic
P35498:p.Val944Glu,pathogenic
P35498:p.Phe945Leu,pathogenic
P35498:p.Arg946Cys,pathogenic
P35498:p.Arg946His,pathogenic
P35498:p.Arg946Ser,pathogenic
P35498:p.Gly950Glu,pathogenic
P35498:p.Trp952Gly,pathogenic
P35498:p.Glu954Lys,pathogenic
P35498:p.Trp957Leu,pathogenic
P35498:p.Cys959Arg,pathogenic
P35498:p.Met960Val,pathogenic
P35498:p.Ala966Thr,benign
P35498:p.Phe972Tyr,benign
P35498:p.Gly979Arg,pathogenic
P35498:p.Val983Ala,pathogenic
P35498:p.Asn985Ile,pathogenic
P35498:p.Leu986Phe,pathogenic
P35498:p.Asn1011Ile,pathogenic
P35498:p.Asp1017Glu,benign
P35498:p.Met1019Ile,benign
P35498:p.His1020Gln,benign
P35498:p.Lys1021Arg,benign
P35498:p.Val1023Ile,benign
P35498:p.Ala1024Asp,benign
P35498:p.Tyr1025Phe,benign
P35498:p.Lys1029Arg,benign
P35498:p.Ile1030Leu,benign
P35498:p.Ile1030Val,benign
P35498:p.Ile1034Val,benign
P35498:p.Ser1037Ala,benign
P35498:p.Ile1039Val,benign
P35498:p.Arg1040Lys,benign
P35498:p.Gln1042Lys,benign
P35498:p.Ile1044Val,benign
P35498:p.Asp1053Glu,benign
P35498:p.Asn1055His,benign
P35498:p.Asn1055Lys,benign
P35498:p.Asn1056Lys,benign
P35498:p.Lys1057Arg,benign
P35498:p.Lys1058Arg,benign
P35498:p.Asp1059Glu,benign
P35498:p.Asp1059Asn,benign
P35498:p.Ser1060Cys,benign
P35498:p.Ser1060Asn,benign
P35498:p.Met1062Ile,benign
P35498:p.Met1062Thr,benign
P35498:p.Met1062Val,benign
P35498:p.Ala1067Gly,benign
P35498:p.Ala1067Thr,benign
P35498:p.Ile1069Ala,benign
P35498:p.Ile1069Val,benign
P35498:p.Leu1073His,benign
P35498:p.Leu1073Met,benign
P35498:p.Asp1074Asn,benign
P35498:p.Asp1074Arg,benign
P35498:p.Tyr1075Cys,benign
P35498:p.Leu1076Ile,benign
P35498:p.Lys1077Arg,benign
P35498:p.Val1079Ala,benign
P35498:p.Val1079Ile,benign
P35498:p.Gly1087Ala,benign
P35498:p.Ser1091Thr,benign
P35498:p.Val1092Ala,benign
P35498:p.Ile1096Val,benign
P35498:p.Ile1097Val,benign
P35498:p.Asn1107His,benign
P35498:p.Asn1146Thr,benign
P35498:p.Glu1147Gly,benign
P35498:p.Gly1160Arg,benign
P35498:p.Ala1161Ile,benign
P35498:p.Ala1161Leu,benign
P35498:p.Ala1161Thr,benign
P35498:p.Val1163Ala,benign
P35498:p.Val1163Glu,benign
P35498:p.Val1168Ile,benign
P35498:p.Val1168Leu,benign
P35498:p.Val1169Ala,benign
P35498:p.Val1169Ile,benign
P35498:p.Val1169Met,benign
P35498:p.Thr1174Ala,benign
P35498:p.Thr1174Ser,pathogenic
P35498:p.Gly1184Glu,benign
P35498:p.Gln1187Arg,benign
P35498:p.Gln1187Ser,benign
P35498:p.Arg1188Leu,benign
P35498:p.Lys1190Ser,benign
P35498:p.Cys1192Trp,benign
P35498:p.Gln1193Lys,benign
P35498:p.Ile1194Thr,benign
P35498:p.Ile1194Val,benign
P35498:p.Asn1195Ser,benign
P35498:p.Glu1197Ser,benign
P35498:p.Glu1198Asn,benign
P35498:p.Gly1199Asn,benign
P35498:p.Arg1200Cys,benign
P35498:p.Arg1200Lys,benign
P35498:p.Gly1201Trp,benign
P35498:p.Lys1202Met,benign
P35498:p.Gln1203Lys,benign
P35498:p.Trp1204Arg,pathogenic
P35498:p.Trp1205Leu,benign
P35498:p.Asn1206Tyr,benign
P35498:p.Leu1207Pro,pathogenic
P35498:p.Arg1208Asn,benign
P35498:p.Arg1209Ile,benign
P35498:p.Arg1209Lys,benign
P35498:p.Thr1210Lys,pathogenic
P35498:p.Arg1213Gln,benign
P35498:p.Trp1219Tyr,benign
P35498:p.Glu1221Thr,benign
P35498:p.Thr1222Ile,benign
P35498:p.Ile1224Phe,benign
P35498:p.Val1225Leu,benign
P35498:p.Met1227Phe,benign
P35498:p.Leu1229Phe,benign
P35498:p.Leu1230Pro,benign
P35498:p.Ser1231Arg,pathogenic
P35498:p.Ser1231Thr,pathogenic
P35498:p.Ser1232Phe,benign
P35498:p.Gly1233Phe,benign
P35498:p.Gly1233Arg,pathogenic
P35498:p.Ala1234Phe,benign
P35498:p.Leu1235Phe,benign
P35498:p.Glu1238Asp,pathogenic
P35498:p.Ile1240Val,benign
P35498:p.Asp1243Glu,benign
P35498:p.Arg1245Gln,pathogenic
P35498:p.Thr1250Ile,benign
P35498:p.Thr1260Pro,pathogenic
P35498:p.Phe1263Leu,pathogenic
P35498:p.Leu1265Pro,pathogenic
P35498:p.Lys1270Thr,pathogenic
P35498:p.Leu1287Pro,pathogenic
P35498:p.Glu1308Asp,pathogenic
P35498:p.Leu1309Phe,pathogenic
P35498:p.Ala1326Pro,pathogenic
P35498:p.Val1335Met,pathogenic
P35498:p.Val1353Leu,pathogenic
P35498:p.Leu1355Pro,pathogenic
P35498:p.Trp1358Ser,pathogenic
P35498:p.Val1366Ile,pathogenic
P35498:p.Asn1367Lys,pathogenic
P35498:p.His1375Asn,benign
P35498:p.Ile1377Val,benign
P35498:p.Thr1381Asn,benign
P35498:p.Asp1383Glu,benign
P35498:p.Asp1383Asn,benign
P35498:p.Arg1384Ile,benign
P35498:p.Arg1384Lys,benign
P35498:p.Arg1384Met,benign
P35498:p.Arg1384Thr,benign
P35498:p.Asp1386Glu,benign
P35498:p.Asp1386Thr,benign
P35498:p.Ile1387Val,benign
P35498:p.Glu1388Asp,benign
P35498:p.Glu1388His,benign
P35498:p.Glu1388Lys,benign
P35498:p.Glu1388Asn,benign
P35498:p.Glu1388Gln,benign
P35498:p.Glu1388Ser,benign
P35498:p.Glu1388Thr,benign
P35498:p.Asp1389Glu,benign
P35498:p.Asp1389Gln,benign
P35498:p.Val1390Met,pathogenic
P35498:p.Asn1391Phe,benign
P35498:p.Asn1391Tyr,benign
P35498:p.His1393Glu,benign
P35498:p.His1393Arg,benign
P35498:p.His1393Tyr,benign
P35498:p.Thr1394Ser,benign
P35498:p.Asp1395Gln,benign
P35498:p.Cys1396Gly,pathogenic
P35498:p.Leu1397Phe,benign
P35498:p.Leu1397Ile,benign
P35498:p.Leu1397Lys,benign
P35498:p.Leu1397Met,benign
P35498:p.Leu1397Gln,benign
P35498:p.Lys1398Glu,benign
P35498:p.Lys1398Ile,benign
P35498:p.Lys1398Asn,benign
P35498:p.Lys1398Gln,benign
P35498:p.Lys1398Arg,benign
P35498:p.Lys1398Ser,benign
P35498:p.Ile1400Met,benign
P35498:p.Glu1401Asp,benign
P35498:p.Thr1405Ser,benign
P35498:p.Asn1414Tyr,pathogenic
P35498:p.Tyr1422Cys,pathogenic
P35498:p.Leu1426Arg,pathogenic
P35498:p.Val1428Ala,pathogenic
P35498:p.Gly1433Glu,pathogenic
P35498:p.Gly1433Arg,pathogenic
P35498:p.Trp1434Arg,pathogenic
P35498:p.Asp1436Asn,benign
P35498:p.Ala1441Pro,pathogenic
P35498:p.Val1442Ile,benign
P35498:p.Asn1446Asp,benign
P35498:p.Val1447Thr,benign
P35498:p.Gln1450Lys,pathogenic
P35498:p.Gln1450Arg,pathogenic
P35498:p.Pro1451Leu,pathogenic
P35498:p.Lys1452Asn,benign
P35498:p.Lys1452Gln,benign
P35498:p.Glu1455Asp,benign
P35498:p.Ser1456Asn,benign
P35498:p.Leu1461Ile,pathogenic
P35498:p.Tyr1462Cys,pathogenic
P35498:p.Phe1463Ser,pathogenic
P35498:p.Gly1470Trp,pathogenic
P35498:p.Leu1475Ser,pathogenic
P35498:p.Gly1480Val,pathogenic
P35498:p.Gln1489His,pathogenic
P35498:p.Gln1489Lys,pathogenic
P35498:p.Gly1494Ile,benign
P35498:p.Gly1495Ser,benign
P35498:p.Phe1499Leu,pathogenic
P35498:p.Tyr1507Asp,benign
P35498:p.Leu1514Ser,pathogenic
P35498:p.Phe1530Tyr,benign
P35498:p.Gly1532Ala,benign
P35498:p.Ile1545Val,pathogenic
P35498:p.Glu1567Asp,benign
P35498:p.Tyr1568Cys,benign
P35498:p.Tyr1568Asp,benign
P35498:p.Tyr1568Glu,benign
P35498:p.Tyr1568His,benign
P35498:p.Val1569Met,benign
P35498:p.Thr1571Ile,benign
P35498:p.Thr1571Asn,benign
P35498:p.Thr1571Ser,benign
P35498:p.Ile1572Val,benign
P35498:p.Ser1574Ala,benign
P35498:p.Ser1574Gly,benign
P35498:p.Val1579Ile,benign
P35498:p.Val1582Ile,benign
P35498:p.Gly1586Glu,pathogenic
P35498:p.Cys1588Arg,pathogenic
P35498:p.Leu1592Met,benign
P35498:p.Ile1593Val,benign
P35498:p.Arg1596Cys,pathogenic
P35498:p.Asp1608Tyr,pathogenic
P35498:p.Val1611Phe,pathogenic
P35498:p.Val1612Ile,pathogenic
P35498:p.Met1619Lys,benign
P35498:p.Phe1620Lys,benign
P35498:p.Leu1621Tyr,benign
P35498:p.Ala1622Ser,benign
P35498:p.Val1630Met,pathogenic
P35498:p.Pro1632Ser,pathogenic
P35498:p.Arg1636Gln,pathogenic
P35498:p.Ile1638Val,benign
P35498:p.Arg1645Gln,pathogenic
P35498:p.Arg1648Cys,pathogenic
P35498:p.Arg1648His,pathogenic
P35498:p.Leu1649Gln,pathogenic
P35498:p.Ile1656Met,pathogenic
P35498:p.Arg1657Cys,pathogenic
P35498:p.Arg1657His,pathogenic
P35498:p.Thr1658Met,pathogenic
P35498:p.Thr1658Arg,pathogenic
P35498:p.Phe1661Ser,pathogenic
P35498:p.Met1664Lys,pathogenic
P35498:p.Pro1668Ala,pathogenic
P35498:p.Gly1674Arg,pathogenic
P35498:p.Ala1685Asp,pathogenic
P35498:p.Ala1685Val,pathogenic
P35498:p.Phe1687Ser,pathogenic
P35498:p.Phe1692Ser,pathogenic
P35498:p.Tyr1694Cys,pathogenic
P35498:p.Arg1697Lys,benign
P35498:p.Arg1697Met,benign
P35498:p.Val1699Ala,benign
P35498:p.Asp1702Asn,benign
P35498:p.Asp1703Val,benign
P35498:p.Phe1707Val,pathogenic
P35498:p.Thr1709Ile,pathogenic
P35498:p.Gly1711Asp,benign
P35498:p.Ser1713Asn,pathogenic
P35498:p.Met1714Arg,pathogenic
P35498:p.Cys1716Arg,pathogenic
P35498:p.Ile1720Met,benign
P35498:p.Thr1721Arg,pathogenic
P35498:p.Ala1724Gly,benign
P35498:p.Trp1726Arg,pathogenic
P35498:p.Lys1737Ala,benign
P35498:p.Lys1737Gly,benign
P35498:p.Asp1742Gly,pathogenic
P35498:p.Asn1744Asp,benign
P35498:p.Asn1744Glu,benign
P35498:p.Asn1744Lys,benign
P35498:p.Asn1744Gln,benign
P35498:p.Lys1745Ala,benign
P35498:p.Lys1745Phe,benign
P35498:p.Val1746Ala,benign
P35498:p.Val1746Asp,benign
P35498:p.Val1746Ile,benign
P35498:p.Val1746Asn,benign
P35498:p.Val1746Ser,benign
P35498:p.Asn1747His,benign
P35498:p.Gly1749Glu,pathogenic
P35498:p.Lys1753Glu,benign
P35498:p.Lys1753Arg,benign
P35498:p.Cys1756Gly,pathogenic
P35498:p.Gly1762Glu,pathogenic
P35498:p.Ser1773Phe,pathogenic
P35498:p.Met1780Thr,pathogenic
P35498:p.Tyr1781Cys,pathogenic
P35498:p.Ile1782Met,pathogenic
P35498:p.Ala1783Thr,pathogenic
P35498:p.Ala1783Val,pathogenic
P35498:p.Glu1787Lys,pathogenic
P35498:p.Glu1795Lys,pathogenic
P35498:p.Phe1808Leu,pathogenic
P35498:p.Trp1812Gly,pathogenic
P35498:p.Asp1818Asn,benign
P35498:p.Phe1831Ser,pathogenic
P35498:p.Glu1836Asp,benign
P35498:p.Leu1847Ile,benign
P35498:p.Leu1847Val,benign
P35498:p.Met1852Thr,pathogenic
P35498:p.Val1857Leu,pathogenic
P35498:p.Asp1866Tyr,pathogenic
P35498:p.Phe1871Tyr,benign
P35498:p.Thr1872Leu,benign
P35498:p.Lys1873Asp,benign
P35498:p.Arg1874Lys,benign
P35498:p.Val1875Pro,benign
P35498:p.Leu1876Tyr,benign
P35498:p.Gly1877Ser,benign
P35498:p.Ser1879Thr,benign
P35498:p.Gly1880Ala,benign
P35498:p.Glu1881Cys,benign
P35498:p.Glu1881Asp,pathogenic
P35498:p.Met1882Trp,benign
P35498:p.Asp1883Lys,benign
P35498:p.Ala1884Met,benign
P35498:p.Arg1886Leu,benign
P35498:p.Ile1887Leu,benign
P35498:p.Ile1887Val,benign
P35498:p.Gln1888Pro,benign
P35498:p.Met1889Gln,benign
P35498:p.Glu1890Asn,benign
P35498:p.Glu1891Asp,benign
P35498:p.Arg1892Ala,benign
P35498:p.Phe1893Asn,benign
P35498:p.Ala1895Cys,benign
P35498:p.Ser1896Lys,benign
P35498:p.Asn1897Thr,benign
P35498:p.Pro1898Asn,benign
P35498:p.Val1901Ala,benign
P35498:p.Gln1904Glu,benign
P35498:p.Thr1909Ile,pathogenic
P35498:p.Lys1911Arg,benign
P35498:p.Val1917Met,benign
P35498:p.Ile1922Thr,pathogenic
P35498:p.Arg1928Cys,benign
P35498:p.His1929Tyr,benign
P35498:p.Lys1932Arg,benign
P35498:p.Val1935Ile,benign
P35498:p.Val1935Leu,benign
P35498:p.Val1935Met,benign
P35498:p.Thr1941Ala,benign
P35498:p.Thr1941Met,benign
P35498:p.Lys1946Arg,benign
P35498:p.Ile1947Leu,benign
P35498:p.Lys1948Arg,benign
P35498:p.Gly1949Ala,benign
P35498:p.Gly1949Cys,benign
P35498:p.Gly1949Ser,benign
P35498:p.Gly1949Val,benign
P35498:p.Ala1951Thr,benign
P35498:p.Ala1951Val,benign
P35498:p.Asn1952Ser,benign
P35498:p.Ile1955Ala,benign
P35498:p.Ile1955Leu,benign
P35498:p.Ile1955Val,benign
P35498:p.Glu1957Asp,benign
P35498:p.Met1959Ile,benign
P35498:p.Met1959Leu,benign
P35498:p.Ile1960Leu,benign
P35498:p.Ile1960Val,benign
P35498:p.Ile1961Thr,benign
P35498:p.Ile1964Leu,benign
P35498:p.Ile1964Met,benign
P35498:p.Asn1965His,benign
P35498:p.Ile1969Val,benign
P35498:p.Asp1974Glu,benign
P35498:p.Leu1975Ile,benign
P35498:p.Leu1975Pro,benign
P35498:p.Met1977Val,benign
P35498:p.Ala1981Val,benign
P35498:p.Val1989Ile,benign
P35498:p.Ile1993Val,benign
P35498:p.Val1994Ile,benign
P35498:p.Val1994Leu,benign
P35498:p.Gln1999Arg,benign
P35498:p.Gly2001Asp,benign
P35498:p.Glu2004Asp,benign
P35498:p.Glu2004Lys,benign
P35498:p.Lys2009Asp,benign
P22304:p.Pro2Ser,benign
P22304:p.Pro3Thr,benign
P22304:p.Arg5Ala,benign
P22304:p.Arg5Gly,benign
P22304:p.Thr6Ser,benign
P22304:p.Arg8Gln,benign
P22304:p.Leu10Phe,benign
P22304:p.Leu11Pro,benign
P22304:p.Leu15Val,benign
P22304:p.Val22Gly,benign
P22304:p.Ala23Gly,benign
P22304:p.Leu24Ala,benign
P22304:p.Gly25Val,benign
P22304:p.Ser26Cys,benign
P22304:p.Ser26Thr,benign
P22304:p.Ser26Tyr,benign
P22304:p.Glu27Leu,benign
P22304:p.Glu27Ser,benign
P22304:p.Thr28Met,benign
P22304:p.Thr28Pro,benign
P22304:p.Gln29Lys,benign
P22304:p.Gln29Pro,benign
P22304:p.Ala30Pro,benign
P22304:p.Asn31Asp,benign
P22304:p.Asn31Pro,benign
P22304:p.Asn31Ser,benign
P22304:p.Ser32Phe,benign
P22304:p.Ser32Pro,benign
P22304:p.Thr34Val,benign
P22304:p.Ala36Gly,benign
P22304:p.Val39Ile,benign
P22304:p.Leu41Pro,pathogenic
P22304:p.Asp45Asn,pathogenic
P22304:p.Arg48Pro,pathogenic
P22304:p.Tyr54Asp,pathogenic
P22304:p.Asn63Asp,pathogenic
P22304:p.Ala68Glu,pathogenic
P22304:p.Ser71Asn,pathogenic
P22304:p.Ser71Arg,pathogenic
P22304:p.Leu73Phe,pathogenic
P22304:p.Ala79Glu,pathogenic
P22304:p.Gln81Glu,benign
P22304:p.Gln81Val,benign
P22304:p.Ala82Cys,benign
P22304:p.Ala82Glu,pathogenic
P22304:p.Ala82Val,pathogenic
P22304:p.Val83Leu,benign
P22304:p.Ala85Ser,pathogenic
P22304:p.Ala85Thr,pathogenic
P22304:p.Pro86Leu,pathogenic
P22304:p.Pro86Gln,pathogenic
P22304:p.Pro86Arg,pathogenic
P22304:p.Ser87Asn,pathogenic
P22304:p.Arg88Cys,pathogenic
P22304:p.Arg88Gly,pathogenic
P22304:p.Arg88His,pathogenic
P22304:p.Arg88Leu,pathogenic
P22304:p.Arg88Pro,pathogenic
P22304:p.Val89Phe,pathogenic
P22304:p.Leu92Pro,pathogenic
P22304:p.Gly94Asp,pathogenic
P22304:p.Arg95Gly,pathogenic
P22304:p.Arg95Thr,pathogenic
P22304:p.Thr99Pro,benign
P22304:p.Leu102Arg,pathogenic
P22304:p.Tyr103His,benign
P22304:p.Asp104Asn,benign
P22304:p.Tyr108Cys,pathogenic
P22304:p.Tyr108Ser,pathogenic
P22304:p.Asn115Tyr,pathogenic
P22304:p.Ser117Tyr,pathogenic
P22304:p.Thr118Ile,pathogenic
P22304:p.Pro120His,pathogenic
P22304:p.Pro120Arg,pathogenic
P22304:p.Gln121His,pathogenic
P22304:p.Gln121Arg,pathogenic
P22304:p.Glu125Val,pathogenic
P22304:p.Ser132Trp,pathogenic
P22304:p.Gly134Arg,pathogenic
P22304:p.Lys135Asn,pathogenic
P22304:p.Lys135Arg,pathogenic
P22304:p.His138Asp,pathogenic
P22304:p.Gly140Val,pathogenic
P22304:p.Ser142Thr,benign
P22304:p.Ser143Phe,pathogenic
P22304:p.Asp148His,pathogenic
P22304:p.His159Pro,pathogenic
P22304:p.Pro160Arg,pathogenic
P22304:p.Asn181Ile,pathogenic
P22304:p.Leu182Pro,pathogenic
P22304:p.Leu183Ile,benign
P22304:p.Cys184Ala,benign
P22304:p.Cys184Phe,pathogenic
P22304:p.Cys184Trp,pathogenic
P22304:p.Pro185Lys,benign
P22304:p.Val186Lys,benign
P22304:p.Asp187Met,benign
P22304:p.Val188Cys,benign
P22304:p.Leu189Val,benign
P22304:p.Leu189Trp,benign
P22304:p.Asp190Met,benign
P22304:p.Val191Phe,benign
P22304:p.Glu193Arg,benign
P22304:p.Gly194Ala,benign
P22304:p.Thr195Pro,benign
P22304:p.Leu196Cys,benign
P22304:p.Leu196Ser,pathogenic
P22304:p.Pro197Cys,benign
P22304:p.Asp198Gly,pathogenic
P22304:p.Ala205Pro,pathogenic
P22304:p.Ile206Val,benign
P22304:p.Gln207Arg,benign
P22304:p.Leu221Pro,pathogenic
P22304:p.Gly224Glu,pathogenic
P22304:p.Tyr225Asp,pathogenic
P22304:p.Lys227Met,pathogenic
P22304:p.Lys227Gln,pathogenic
P22304:p.Pro228Leu,pathogenic
P22304:p.Pro228Thr,pathogenic
P22304:p.His229Arg,pathogenic
P22304:p.His229Tyr,pathogenic
P22304:p.Ile230Phe,benign
P22304:p.Pro231Leu,pathogenic
P22304:p.Glu245Gly,benign
P22304:p.Ile247Ser,benign
P22304:p.Asp252Asn,pathogenic
P22304:p.Pro253Ser,benign
P22304:p.Leu259Pro,pathogenic
P22304:p.Tyr264Asn,pathogenic
P22304:p.Asn265Ile,pathogenic
P22304:p.Pro266His,pathogenic
P22304:p.Pro266Arg,pathogenic
P22304:p.Asp269Val,pathogenic
P22304:p.Ser282His,benign
P22304:p.Val283Ile,benign
P22304:p.Pro284Gly,benign
P22304:p.Asp291Glu,benign
P22304:p.Gln293His,pathogenic
P22304:p.Arg294Gln,benign
P22304:p.Ser299Ile,pathogenic
P22304:p.Asp308Glu,pathogenic
P22304:p.Asp308Asn,pathogenic
P22304:p.Thr309Ala,pathogenic
P22304:p.Arg313His,benign
P22304:p.Leu314Pro,pathogenic
P22304:p.Ala317Thr,benign
P22304:p.Ile329Val,benign
P22304:p.Ser333Leu,pathogenic
P22304:p.Asp334Gly,pathogenic
P22304:p.Asp334Asn,pathogenic
P22304:p.His335Arg,pathogenic
P22304:p.Gly336Glu,pathogenic
P22304:p.Gly336Arg,pathogenic
P22304:p.Trp337Arg,pathogenic
P22304:p.Leu339Arg,pathogenic
P22304:p.Gly340Asp,pathogenic
P22304:p.Glu341Lys,pathogenic
P22304:p.His342Tyr,pathogenic
P22304:p.Trp345Cys,pathogenic
P22304:p.Ala346Asp,pathogenic
P22304:p.Ala346Val,pathogenic
P22304:p.Lys347Ile,pathogenic
P22304:p.Lys347Gln,pathogenic
P22304:p.Lys347Thr,pathogenic
P22304:p.Tyr348His,pathogenic
P22304:p.Ser349Ile,pathogenic
P22304:p.Pro358Arg,pathogenic
P22304:p.Ile360Met,benign
P22304:p.Gln389Glu,benign
P22304:p.Leu403Arg,pathogenic
P22304:p.Leu410Pro,pathogenic
P22304:p.Val418Ala,benign
P22304:p.Cys422Gly,pathogenic
P22304:p.Cys422Arg,pathogenic
P22304:p.Cys432Tyr,pathogenic
P22304:p.Glu434Lys,pathogenic
P22304:p.Gln465Pro,pathogenic
P22304:p.Pro467Leu,pathogenic
P22304:p.Arg468Gly,pathogenic
P22304:p.Arg468Leu,pathogenic
P22304:p.Arg468Gln,pathogenic
P22304:p.Arg468Trp,pathogenic
P22304:p.Pro469His,pathogenic
P22304:p.Ser470Ala,benign
P22304:p.Ile472Phe,benign
P22304:p.Asp478Gly,pathogenic
P22304:p.Asp478Tyr,pathogenic
P22304:p.Pro480Leu,pathogenic
P22304:p.Pro480Gln,pathogenic
P22304:p.Pro480Arg,pathogenic
P22304:p.Ser481Asn,benign
P22304:p.Ile485Lys,pathogenic
P22304:p.Ile485Arg,pathogenic
P22304:p.Tyr490Ser,pathogenic
P22304:p.Ser491Phe,pathogenic
P22304:p.Trp502Cys,pathogenic
P22304:p.Trp502Ser,pathogenic
P22304:p.Val503Ile,benign
P22304:p.Asn506Ser,benign
P22304:p.Glu521Lys,pathogenic
P22304:p.Glu521Val,pathogenic
P22304:p.Tyr523Cys,pathogenic
P22304:p.Leu530Phe,benign
P22304:p.Phe545Leu,benign
P33897:p.Arg6Thr,benign
P33897:p.Arg8Pro,benign
P33897:p.Pro9Arg,benign
P33897:p.Asn13Ser,benign
P33897:p.Ala29Val,benign
P33897:p.Val32Ala,benign
P33897:p.Gln38Arg,benign
P33897:p.Pro42Leu,benign
P33897:p.Ala43Val,benign
P33897:p.Leu46Pro,benign
P33897:p.Leu46Ser,benign
P33897:p.Ala50Thr,benign
P33897:p.Gly51Lys,benign
P33897:p.Gly51Arg,benign
P33897:p.Glu52Asp,benign
P33897:p.Pro53Ser,benign
P33897:p.Ala57Ser,benign
P33897:p.Val60Ala,benign
P33897:p.Met67Val,benign
P33897:p.Leu76Met,benign
P33897:p.Cys88Trp,pathogenic
P33897:p.Glu90Lys,pathogenic
P33897:p.Ser98Leu,pathogenic
P33897:p.Ala99Asp,pathogenic
P33897:p.Ser103Arg,pathogenic
P33897:p.Arg104Cys,pathogenic
P33897:p.Arg104His,pathogenic
P33897:p.Thr105Ile,pathogenic
P33897:p.Thr105Pro,pathogenic
P33897:p.Leu107Pro,pathogenic
P33897:p.Ser108Leu,pathogenic
P33897:p.Ser108Trp,pathogenic
P33897:p.Arg113Cys,pathogenic
P33897:p.Arg113Pro,pathogenic
P33897:p.Gly116Arg,pathogenic
P33897:p.Ala141Thr,pathogenic
P33897:p.Pro143Ser,pathogenic
P33897:p.Asn148Ser,pathogenic
P33897:p.Ser149Asn,pathogenic
P33897:p.Arg152Cys,pathogenic
P33897:p.Arg152Leu,pathogenic
P33897:p.Arg152Pro,pathogenic
P33897:p.Arg152Ser,pathogenic
P33897:p.Ser161Pro,pathogenic
P33897:p.Arg163His,pathogenic
P33897:p.Arg163Pro,pathogenic
P33897:p.Arg172Ser,benign
P33897:p.Tyr174Cys,pathogenic
P33897:p.Tyr174Asp,pathogenic
P33897:p.Tyr174Ser,pathogenic
P33897:p.Gln178Glu,pathogenic
P33897:p.Tyr181Cys,pathogenic
P33897:p.Arg182Pro,pathogenic
P33897:p.Arg189Trp,pathogenic
P33897:p.Leu190Pro,pathogenic
P33897:p.Asp194His,pathogenic
P33897:p.Thr198Lys,pathogenic
P33897:p.Thr198Arg,pathogenic
P33897:p.Asp200Asn,pathogenic
P33897:p.Asp200Val,pathogenic
P33897:p.Leu211Pro,pathogenic
P33897:p.Ser213Cys,pathogenic
P33897:p.Asn214Asp,pathogenic
P33897:p.Lys217Glu,pathogenic
P33897:p.Pro218Thr,pathogenic
P33897:p.Leu220Pro,pathogenic
P33897:p.Asp221Gly,pathogenic
P33897:p.Val224Glu,pathogenic
P33897:p.Leu229Pro,pathogenic
P33897:p.Arg231Gln,benign
P33897:p.Ala232Val,benign
P33897:p.Arg236Cys,benign
P33897:p.Thr254Met,pathogenic
P33897:p.Thr254Pro,pathogenic
P33897:p.Pro263Leu,pathogenic
P33897:p.Gly266Glu,pathogenic
P33897:p.Gly266Arg,pathogenic
P33897:p.Glu271Lys,pathogenic
P33897:p.Arg274Trp,pathogenic
P33897:p.Lys276Glu,pathogenic
P33897:p.Gly277Arg,pathogenic
P33897:p.Gly277Trp,pathogenic
P33897:p.Arg280Cys,pathogenic
P33897:p.Arg285Pro,pathogenic
P33897:p.Glu291Asp,pathogenic
P33897:p.Glu291Lys,pathogenic
P33897:p.Ala294Thr,pathogenic
P33897:p.Tyr296Cys,pathogenic
P33897:p.Gly298Asp,pathogenic
P33897:p.Glu302Lys,pathogenic
P33897:p.Arg308His,benign
P33897:p.Asp312Arg,benign
P33897:p.Leu322Pro,pathogenic
P33897:p.Lys336Met,pathogenic
P33897:p.Trp339Arg,pathogenic
P33897:p.Ser342Pro,pathogenic
P33897:p.Gly343Asp,pathogenic
P33897:p.Gly343Ser,pathogenic
P33897:p.Ser360Thr,benign
P33897:p.Asp361Ala,benign
P33897:p.Lys366Arg,benign
P33897:p.Ala368Ser,benign
P33897:p.Arg389Gly,pathogenic
P33897:p.Arg389His,pathogenic
P33897:p.Ile399Thr,benign
P33897:p.Arg401Gln,pathogenic
P33897:p.Arg401Trp,pathogenic
P33897:p.Arg418Gln,benign
P33897:p.Arg418Trp,pathogenic
P33897:p.Glu427Ala,benign
P33897:p.Gln430His,benign
P33897:p.Arg438Gly,benign
P33897:p.Arg438Lys,benign
P33897:p.Ala443Thr,benign
P33897:p.Ala445Pro,benign
P33897:p.Arg452Gln,benign
P33897:p.Ser453Ala,benign
P33897:p.Arg456His,benign
P33897:p.Arg464Gln,benign
P33897:p.Val482Ile,benign
P33897:p.Pro484Arg,pathogenic
P33897:p.Ser485Thr,benign
P33897:p.Leu503Pro,pathogenic
P33897:p.Gly507Val,pathogenic
P33897:p.Gly512Ser,pathogenic
P33897:p.Ser514Arg,pathogenic
P33897:p.Ser515Phe,pathogenic
P33897:p.Leu516Pro,pathogenic
P33897:p.Arg518Gln,pathogenic
P33897:p.Arg518Trp,pathogenic
P33897:p.Gly522Trp,pathogenic
P33897:p.Leu523Phe,pathogenic
P33897:p.Gly529Ser,pathogenic
P33897:p.Tyr532Cys,benign
P33897:p.Pro534Leu,pathogenic
P33897:p.Phe540Cys,pathogenic
P33897:p.Phe540Ser,pathogenic
P33897:p.Pro543Leu,pathogenic
P33897:p.Gln544Arg,pathogenic
P33897:p.Ser552Pro,pathogenic
P33897:p.Arg554His,pathogenic
P33897:p.Gln556Arg,pathogenic
P33897:p.Pro560Leu,pathogenic
P33897:p.Pro560Arg,pathogenic
P33897:p.Pro560Ser,pathogenic
P33897:p.Glu564Ala,benign
P33897:p.Met566Lys,pathogenic
P33897:p.Gln567Arg,benign
P33897:p.Val582Ile,benign
P33897:p.Arg591Pro,pathogenic
P33897:p.Arg591Gln,pathogenic
P33897:p.Arg591Trp,pathogenic
P33897:p.Met598Val,benign
P33897:p.Ser606Leu,pathogenic
P33897:p.Ser606Pro,pathogenic
P33897:p.Gly608Asp,pathogenic
P33897:p.Glu609Gly,pathogenic
P33897:p.Glu609Lys,pathogenic
P33897:p.Ala616Val,pathogenic
P33897:p.Arg617Cys,pathogenic
P33897:p.Arg617Gly,pathogenic
P33897:p.Arg617His,pathogenic
P33897:p.Ala626Asp,pathogenic
P33897:p.Ala626Thr,pathogenic
P33897:p.Asp629His,pathogenic
P33897:p.Glu630Gly,pathogenic
P33897:p.Cys631Tyr,pathogenic
P33897:p.Thr632Ile,pathogenic
P33897:p.Thr632Pro,pathogenic
P33897:p.Ser633Ile,pathogenic
P33897:p.Ser633Arg,pathogenic
P33897:p.Val635Met,pathogenic
P33897:p.Ser636Ile,pathogenic
P33897:p.Asp638Tyr,pathogenic
P33897:p.Glu640Lys,pathogenic
P33897:p.Ala646Pro,pathogenic
P33897:p.Leu654Pro,pathogenic
P33897:p.Arg660Pro,pathogenic
P33897:p.Arg660Gln,pathogenic
P33897:p.Arg660Trp,pathogenic
P33897:p.His667Asp,pathogenic
P33897:p.Thr668Ile,pathogenic
P33897:p.Gly677Asp,pathogenic
P33897:p.Trp679Arg,pathogenic
P33897:p.Thr693Met,pathogenic
P33897:p.Val724Met,benign
P33897:p.His728Glu,benign
P33897:p.His728Gln,benign
P33897:p.Val729Ala,benign
P33897:p.Pro734Ser,benign
P33897:p.Gly736Asp,benign
P33897:p.Gln741Pro,benign
P33897:p.Gly742Ser,benign
P33897:p.Ala743Pro,benign
P33897:p.Ser744Trp,benign
P33897:p.Thr745Pro,benign
P20807:p.Val4Ile,pathogenic
P20807:p.Ala7Pro,benign
P20807:p.Ala7Thr,benign
P20807:p.Thr13Ile,benign
P20807:p.Ala14Gly,benign
P20807:p.Ala14Ser,benign
P20807:p.Val23Ile,benign
P20807:p.Pro24Ser,benign
P20807:p.His25Gln,benign
P20807:p.His25Ser,benign
P20807:p.Pro26Leu,pathogenic
P20807:p.Ala31Thr,benign
P20807:p.Ala31Val,benign
P20807:p.Thr32Ile,benign
P20807:p.Pro39Ala,benign
P20807:p.Pro39Ser,benign
P20807:p.Phe61Tyr,benign
P20807:p.Asp77Asn,pathogenic
P20807:p.Ser86Phe,pathogenic
P20807:p.Val98Ile,benign
P20807:p.Glu107Lys,benign
P20807:p.Ile113Val,benign
P20807:p.Asp114Gly,benign
P20807:p.Arg118Gly,pathogenic
P20807:p.Glu125Asp,benign
P20807:p.Cys137Arg,pathogenic
P20807:p.Gln142Lys,benign
P20807:p.His143Arg,benign
P20807:p.His151Gln,benign
P20807:p.Ile156Val,benign
P20807:p.Ile162Leu,pathogenic
P20807:p.Glu172Asp,benign
P20807:p.Leu182Gln,pathogenic
P20807:p.Pro183Leu,pathogenic
P20807:p.Thr184Met,pathogenic
P20807:p.Leu189Pro,pathogenic
P20807:p.Gly214Ser,pathogenic
P20807:p.Ser215Pro,pathogenic
P20807:p.Glu217Lys,pathogenic
P20807:p.Gly222Arg,pathogenic
P20807:p.Glu226Lys,pathogenic
P20807:p.Thr232Ile,pathogenic
P20807:p.Gly234Glu,pathogenic
P20807:p.Ala236Thr,benign
P20807:p.Arg242Lys,benign
P20807:p.Ser246Arg,benign
P20807:p.Asp247Glu,benign
P20807:p.Tyr249His,benign
P20807:p.Glu285Asp,benign
P20807:p.Leu299Phe,benign
P20807:p.Gln300Arg,benign
P20807:p.Gly308Ala,benign
P20807:p.Gly308Asp,benign
P20807:p.Asp310Val,benign
P20807:p.Glu311Asp,benign
P20807:p.Ile318Val,benign
P20807:p.Pro319Leu,pathogenic
P20807:p.Val320Phe,benign
P20807:p.Val320Ile,benign
P20807:p.Arg332Lys,benign
P20807:p.His334Gln,pathogenic
P20807:p.Tyr336Asn,pathogenic
P20807:p.Asp342Glu,benign
P20807:p.Val344Ala,benign
P20807:p.Pro345Leu,benign
P20807:p.Pro345Arg,benign
P20807:p.Val354Gly,pathogenic
P20807:p.Trp360Cys,pathogenic
P20807:p.Ser368Ala,benign
P20807:p.Arg372Gly,benign
P20807:p.Arg372Ser,benign
P20807:p.Ser377Asn,benign
P20807:p.Lys384Met,benign
P20807:p.Lys384Thr,benign
P20807:p.Ala385Thr,benign
P20807:p.Arg386His,benign
P20807:p.Glu402Asp,benign
P20807:p.Glu402Lys,benign
P20807:p.Gln422Glu,benign
P20807:p.Arg437Cys,pathogenic
P20807:p.Arg440Trp,pathogenic
P20807:p.Gly441Asp,pathogenic
P20807:p.Gly445Arg,pathogenic
P20807:p.Arg448Cys,pathogenic
P20807:p.Arg448Gly,pathogenic
P20807:p.Arg448His,pathogenic
P20807:p.Ser479Gly,pathogenic
P20807:p.Gln486Glu,pathogenic
P20807:p.Arg489Gln,pathogenic
P20807:p.Arg489Trp,pathogenic
P20807:p.Arg490Gln,pathogenic
P20807:p.Arg490Trp,pathogenic
P20807:p.Arg493Trp,pathogenic
P20807:p.Gly496Arg,pathogenic
P20807:p.Ser498Asn,benign
P20807:p.Ile502Thr,pathogenic
P20807:p.Lys517Arg,benign
P20807:p.Lys531Arg,benign
P20807:p.Arg541Gln,pathogenic
P20807:p.Gly567Trp,pathogenic
P20807:p.Arg572Gln,pathogenic
P20807:p.Arg572Trp,pathogenic
P20807:p.Glu583Val,benign
P20807:p.Val584Ala,benign
P20807:p.Val584Leu,benign
P20807:p.Glu585Ala,benign
P20807:p.Asn586Gln,benign
P20807:p.Thr587Leu,benign
P20807:p.Ile588Ser,benign
P20807:p.Ser589His,benign
P20807:p.Val590Leu,benign
P20807:p.Pro593Phe,benign
P20807:p.Val594Leu,benign
P20807:p.Lys595Leu,benign
P20807:p.Lys595Arg,benign
P20807:p.Lys595Val,benign
P20807:p.Lys596Ala,benign
P20807:p.Lys596Pro,benign
P20807:p.Lys596Ser,benign
P20807:p.Lys597Glu,benign
P20807:p.Lys597Ser,benign
P20807:p.Lys598Ala,benign
P20807:p.Lys598Ser,benign
P20807:p.Thr599Ala,benign
P20807:p.Thr599Leu,benign
P20807:p.Thr599Pro,benign
P20807:p.Lys600Gln,benign
P20807:p.Lys600Ser,benign
P20807:p.Ser606Leu,pathogenic
P20807:p.Lys634Glu,benign
P20807:p.Gln635Lys,benign
P20807:p.Pro637Ser,benign
P20807:p.Pro637Thr,benign
P20807:p.Gln638Pro,pathogenic
P20807:p.Gln640Arg,benign
P20807:p.Gly642Arg,benign
P20807:p.Ser643Asn,benign
P20807:p.Ser644Thr,benign
P20807:p.Arg655Gln,benign
P20807:p.Arg655Trp,benign
P20807:p.Lys675Asn,benign
P20807:p.Thr689Ser,benign
P20807:p.Arg698Pro,pathogenic
P20807:p.Ala702Val,pathogenic
P20807:p.Asp705Gly,pathogenic
P20807:p.Asp705His,pathogenic
P20807:p.Lys711Arg,benign
P20807:p.Ile724Val,benign
P20807:p.Phe731Ser,pathogenic
P20807:p.Ser744Gly,pathogenic
P20807:p.Arg748Gln,pathogenic
P20807:p.His757Arg,benign
P20807:p.Asn760Ser,benign
P20807:p.Arg769Gln,pathogenic
P20807:p.Val787Ile,benign
P20807:p.His797Asn,benign
Q02388:p.Met1His,benign
Q02388:p.Thr2Cys,benign
Q02388:p.Thr2Arg,benign
Q02388:p.Arg4Gln,benign
Q02388:p.Leu6Trp,benign
Q02388:p.Val7Ser,benign
Q02388:p.Ala8Pro,benign
Q02388:p.Ala9Gln,benign
Q02388:p.Ala9Val,benign
Q02388:p.Leu10Ala,benign
Q02388:p.Cys11Phe,benign
Q02388:p.Cys11Val,benign
Q02388:p.Ala12Leu,benign
Q02388:p.Gly13Trp,benign
Q02388:p.Ala16Glu,benign
Q02388:p.Glu17Gly,benign
Q02388:p.Val57Ile,benign
Q02388:p.Ala72Val,benign
Q02388:p.Thr90Asp,benign
Q02388:p.Glu91Ser,benign
Q02388:p.Gly93Glu,benign
Q02388:p.Gly93Ser,benign
Q02388:p.Leu97Phe,benign
Q02388:p.Ser99Thr,benign
Q02388:p.Gly101Leu,benign
Q02388:p.Gly101Ser,benign
Q02388:p.Asp102Ser,benign
Q02388:p.Val103Ile,benign
Q02388:p.Ala122Asn,benign
Q02388:p.Ile123Val,benign
Q02388:p.His125Met,benign
Q02388:p.Val126Ile,benign
Q02388:p.Ala127Arg,benign
Q02388:p.Asp128Ala,benign
Q02388:p.His129Ile,benign
Q02388:p.His129Arg,benign
Q02388:p.Val130Leu,benign
Q02388:p.Phe131Ser,benign
Q02388:p.Leu132Ser,benign
Q02388:p.Pro133Val,benign
Q02388:p.Gln134Thr,benign
Q02388:p.Leu135Gln,benign
Q02388:p.Pro138Asp,benign
Q02388:p.Gly139Cys,benign
Q02388:p.Val140Ile,benign
Q02388:p.Lys142Arg,pathogenic
Q02388:p.Arg162Lys,benign
Q02388:p.Val168Ile,benign
Q02388:p.Lys169Asn,benign
Q02388:p.Ala172Thr,benign
Q02388:p.Asp193Glu,benign
Q02388:p.Val222Met,benign
Q02388:p.Arg226Gln,benign
Q02388:p.Pro228Leu,benign
Q02388:p.Tyr262His,benign
Q02388:p.Leu269Met,benign
Q02388:p.Thr270Met,benign
Q02388:p.Val285Ile,benign
Q02388:p.Arg293Trp,benign
Q02388:p.Arg295Gln,benign
Q02388:p.Arg298Gln,benign
Q02388:p.Ile308Val,benign
Q02388:p.Pro331Leu,benign
Q02388:p.Pro351Ser,benign
Q02388:p.Arg357His,benign
Q02388:p.Gly365Asp,benign
Q02388:p.Arg383His,benign
Q02388:p.Thr389Met,benign
Q02388:p.Asp390Glu,benign
Q02388:p.Val395Ile,benign
Q02388:p.Val395Met,benign
Q02388:p.Ser396Arg,benign
Q02388:p.Arg401His,benign
Q02388:p.Arg401Gln,benign
Q02388:p.Val403Met,benign
Q02388:p.Ala406Thr,benign
Q02388:p.Thr407Ala,benign
Q02388:p.Met410Thr,benign
Q02388:p.Arg412His,benign
Q02388:p.Ala415Thr,benign
Q02388:p.Arg422His,benign
Q02388:p.Tyr444Phe,benign
Q02388:p.Trp448Gly,benign
Q02388:p.Trp448Arg,benign
Q02388:p.Asp465Val,benign
Q02388:p.Arg481Cys,benign
Q02388:p.His491Arg,benign
Q02388:p.Ser509Gly,benign
Q02388:p.Pro510His,benign
Q02388:p.Thr512Lys,benign
Q02388:p.Thr512Met,benign
Q02388:p.Arg523Gln,benign
Q02388:p.Val524Met,benign
Q02388:p.Gly533Ser,benign
Q02388:p.Thr550Ile,benign
Q02388:p.Val552Met,benign
Q02388:p.Pro581Ser,benign
Q02388:p.Val588Met,benign
Q02388:p.Pro595Leu,pathogenic
Q02388:p.Pro598Leu,benign
Q02388:p.Val621Ile,benign
Q02388:p.Gly623Arg,benign
Q02388:p.Arg628Gln,benign
Q02388:p.Ala649Val,benign
Q02388:p.Thr660Ala,benign
Q02388:p.Val663Leu,benign
Q02388:p.Arg669Gln,benign
Q02388:p.Glu672Lys,benign
Q02388:p.Ala677Val,benign
Q02388:p.Thr691Arg,benign
Q02388:p.Ser698Gly,benign
Q02388:p.Thr705Ser,benign
Q02388:p.Thr750Met,benign
Q02388:p.Val760Met,benign
Q02388:p.Pro763Leu,benign
Q02388:p.Arg851Leu,benign
Q02388:p.Pro863Leu,benign
Q02388:p.His874Gln,benign
Q02388:p.His881Gln,benign
Q02388:p.Arg892Gly,benign
Q02388:p.Ala893Val,benign
Q02388:p.His899Arg,benign
Q02388:p.Ser917Asn,benign
Q02388:p.Arg931His,benign
Q02388:p.Val932Met,benign
Q02388:p.Arg933Lys,benign
Q02388:p.Gly943Glu,benign
Q02388:p.Glu947Asp,benign
Q02388:p.Val948Met,benign
Q02388:p.Thr949Lys,benign
Q02388:p.Ala950Val,benign
Q02388:p.Ile960Thr,benign
Q02388:p.Arg990Trp,benign
Q02388:p.Gly1001Arg,benign
Q02388:p.Ser1002Ala,benign
Q02388:p.Val1022Ile,benign
Q02388:p.Thr1029Met,benign
Q02388:p.Arg1036Gln,benign
Q02388:p.Val1042Ile,benign
Q02388:p.Thr1045Ala,benign
Q02388:p.Leu1081Ser,benign
Q02388:p.His1112Tyr,benign
Q02388:p.His1142Tyr,benign
Q02388:p.Met1145Val,benign
Q02388:p.Ser1183Ala,benign
Q02388:p.Asn1186Lys,benign
Q02388:p.Ala1204Val,benign
Q02388:p.Gln1224Arg,benign
Q02388:p.Thr1231Ala,benign
Q02388:p.Thr1239Ala,benign
Q02388:p.Pro1271Ser,benign
Q02388:p.Pro1277Leu,pathogenic
Q02388:p.Thr1293Ile,benign
Q02388:p.Ala1313Pro,benign
Q02388:p.Asn1315Thr,benign
Q02388:p.Arg1334His,benign
Q02388:p.Asp1336Glu,benign
Q02388:p.Arg1340Gln,benign
Q02388:p.Pro1342Ser,benign
Q02388:p.Pro1342Thr,benign
Q02388:p.Gly1347Arg,pathogenic
Q02388:p.Pro1349Gln,benign
Q02388:p.Pro1349Ser,benign
Q02388:p.Val1355Ile,benign
Q02388:p.Ile1356Thr,benign
Q02388:p.Pro1372Ser,benign
Q02388:p.Arg1379His,benign
Q02388:p.Ala1397Ser,benign
Q02388:p.Met1398Val,benign
Q02388:p.Gly1414Arg,benign
Q02388:p.Val1438Ala,benign
Q02388:p.Val1438Ile,benign
Q02388:p.Lys1443Glu,benign
Q02388:p.Ala1454Ser,benign
Q02388:p.Pro1485Ser,benign
Q02388:p.Leu1488Pro,benign
Q02388:p.Lys1518Glu,benign
Q02388:p.Gly1519Asp,pathogenic
Q02388:p.Gly1522Glu,pathogenic
Q02388:p.Thr1527Ala,benign
Q02388:p.Thr1527Ile,benign
Q02388:p.Arg1529His,benign
Q02388:p.Pro1542Thr,benign
Q02388:p.Gly1557Arg,pathogenic
Q02388:p.Pro1561Ser,benign
Q02388:p.Pro1576Ala,benign
Q02388:p.Pro1582Ser,benign
Q02388:p.Gly1595Arg,pathogenic
Q02388:p.Gly1604Arg,pathogenic
Q02388:p.Pro1621Ser,benign
Q02388:p.Pro1623Ser,benign
Q02388:p.Asp1633Glu,benign
Q02388:p.Gly1652Arg,pathogenic
Q02388:p.Asp1674Asn,benign
Q02388:p.Glu1680Ala,benign
Q02388:p.Arg1683Gln,benign
Q02388:p.Ser1686Ile,benign
Q02388:p.Ser1689Pro,benign
Q02388:p.Pro1692Ser,benign
Q02388:p.Gly1700Ser,benign
Q02388:p.Pro1701Ser,benign
Q02388:p.Pro1702His,benign
Q02388:p.Gly1703Glu,pathogenic
Q02388:p.Gly1703Trp,benign
Q02388:p.Pro1704Leu,benign
Q02388:p.Pro1705Phe,benign
Q02388:p.Gly1706Pro,benign
Q02388:p.Arg1707Pro,benign
Q02388:p.Leu1708Gln,benign
Q02388:p.Thr1711Ile,benign
Q02388:p.Glu1744Asp,benign
Q02388:p.Glu1748Asp,benign
Q02388:p.Phe1750Leu,benign
Q02388:p.Arg1772Trp,pathogenic
Q02388:p.Gly1776Arg,pathogenic
Q02388:p.Gly1782Arg,pathogenic
Q02388:p.Ala1790Pro,benign
Q02388:p.Ala1790Ser,benign
Q02388:p.Gly1791Glu,pathogenic
Q02388:p.Ser1793Pro,benign
Q02388:p.Pro1795Leu,benign
Q02388:p.Ala1798Val,benign
Q02388:p.Gly1812Arg,pathogenic
Q02388:p.Gly1815Arg,pathogenic
Q02388:p.Gly1818Ala,benign
Q02388:p.Leu1819Pro,benign
Q02388:p.Pro1820Ser,benign
Q02388:p.Pro1825Ser,benign
Q02388:p.Pro1829Leu,benign
Q02388:p.Asn1844Lys,benign
Q02388:p.Gly1845Arg,pathogenic
Q02388:p.Ser1865Pro,benign
Q02388:p.Arg1877His,benign
Q02388:p.Ala1879Ile,benign
Q02388:p.Ala1879Val,benign
Q02388:p.Val1895Leu,benign
Q02388:p.Val1905Gly,benign
Q02388:p.Thr1909Ala,benign
Q02388:p.Ser1920Tyr,benign
Q02388:p.Val1939Met,benign
Q02388:p.Ala1953Val,benign
Q02388:p.Lys1981Arg,pathogenic
Q02388:p.Gly1982Trp,pathogenic
Q02388:p.Ser1984Pro,benign
Q02388:p.Gln1987Arg,benign
Q02388:p.Pro1989Ser,benign
Q02388:p.Gly2003Arg,pathogenic
Q02388:p.Gly2006Ala,pathogenic
Q02388:p.Gly2006Asp,pathogenic
Q02388:p.Arg2008Cys,pathogenic
Q02388:p.Arg2008Gly,pathogenic
Q02388:p.Gly2009Arg,pathogenic
Q02388:p.Gly2015Glu,pathogenic
Q02388:p.Gly2025Ala,pathogenic
Q02388:p.Gly2028Ala,pathogenic
Q02388:p.Gly2028Arg,pathogenic
Q02388:p.Ser2030Pro,benign
Q02388:p.Gly2031Ser,pathogenic
Q02388:p.Gly2034Arg,pathogenic
Q02388:p.Gly2034Trp,pathogenic
Q02388:p.Gly2037Glu,pathogenic
Q02388:p.Gly2040Asp,pathogenic
Q02388:p.Gly2040Ser,pathogenic
Q02388:p.Gly2040Val,pathogenic
Q02388:p.Gly2043Arg,pathogenic
Q02388:p.Gly2043Trp,pathogenic
Q02388:p.Gly2046Val,pathogenic
Q02388:p.Gly2049Glu,pathogenic
Q02388:p.Ala2054Glu,benign
Q02388:p.Gly2055Glu,pathogenic
Q02388:p.Arg2063Trp,pathogenic
Q02388:p.Gly2064Arg,pathogenic
Q02388:p.Arg2069Cys,pathogenic
Q02388:p.Gly2070Arg,pathogenic
Q02388:p.Gly2073Asp,pathogenic
Q02388:p.Gly2076Asp,pathogenic
Q02388:p.Gly2079Glu,pathogenic
Q02388:p.Gly2079Arg,pathogenic
Q02388:p.Thr2083Ser,benign
Q02388:p.Pro2086Leu,benign
Q02388:p.Glu2098Ala,benign
Q02388:p.Glu2098Gly,benign
Q02388:p.Gly2102Ala,benign
Q02388:p.Asn2122Asp,benign
Q02388:p.Gln2125Arg,benign
Q02388:p.Gly2132Asp,pathogenic
Q02388:p.Arg2140Gln,benign
Q02388:p.Glu2142Asp,benign
Q02388:p.Pro2152Leu,benign
Q02388:p.Met2160Val,benign
Q02388:p.Val2179Ala,benign
Q02388:p.Gly2192Ser,pathogenic
Q02388:p.Leu2193Phe,benign
Q02388:p.Gly2207Arg,pathogenic
Q02388:p.Thr2220Pro,benign
Q02388:p.Gly2242Arg,pathogenic
Q02388:p.Gly2251Glu,pathogenic
Q02388:p.Gly2263Val,pathogenic
Q02388:p.Ser2265Gly,benign
Q02388:p.Gly2296Glu,pathogenic
Q02388:p.Val2323Met,benign
Q02388:p.Pro2337Leu,benign
Q02388:p.Gly2366Ser,pathogenic
Q02388:p.Gly2369Ser,pathogenic
Q02388:p.Pro2371Ala,benign
Q02388:p.Pro2381Leu,benign
Q02388:p.Leu2393Val,benign
Q02388:p.Leu2396Ala,benign
Q02388:p.Leu2396Pro,benign
Q02388:p.Val2402Ile,benign
Q02388:p.Pro2406Gln,benign
Q02388:p.Ile2435Val,benign
Q02388:p.Pro2451Ser,benign
Q02388:p.Pro2463Ser,benign
Q02388:p.Val2465Ala,benign
Q02388:p.Arg2471Gln,benign
Q02388:p.Ile2479Val,benign
Q02388:p.Arg2485His,benign
Q02388:p.Ser2512Thr,benign
Q02388:p.Asp2549Glu,benign
Q02388:p.Asn2556Ser,benign
Q02388:p.Gly2557Arg,pathogenic
Q02388:p.Pro2568Ala,benign
Q02388:p.Gly2569Arg,pathogenic
Q02388:p.Gly2575Arg,pathogenic
Q02388:p.Leu2576Ser,benign
Q02388:p.Leu2583Pro,benign
Q02388:p.Pro2607Ser,benign
Q02388:p.Glu2612Gly,benign
Q02388:p.Arg2622Trp,pathogenic
Q02388:p.Gly2623Cys,pathogenic
Q02388:p.Leu2636Val,benign
Q02388:p.Gly2653Arg,pathogenic
Q02388:p.His2657Gln,benign
Q02388:p.Ser2670Leu,benign
Q02388:p.Gly2671Val,pathogenic
Q02388:p.Gly2674Asp,pathogenic
Q02388:p.Gly2674Arg,pathogenic
Q02388:p.Pro2693Ala,benign
Q02388:p.Gln2697Arg,benign
Q02388:p.Gly2709Arg,benign
Q02388:p.Pro2712Gln,benign
Q02388:p.Gly2713Asp,pathogenic
Q02388:p.Gly2713Arg,pathogenic
Q02388:p.Ser2715Arg,benign
Q02388:p.Asn2717Ser,benign
Q02388:p.Pro2723Ser,benign
Q02388:p.Ser2729Gly,benign
Q02388:p.Ser2729Asn,benign
Q02388:p.Gly2740Ala,pathogenic
Q02388:p.Gly2749Arg,pathogenic
Q02388:p.Ala2755Asp,benign
Q02388:p.Val2758Ala,benign
Q02388:p.Gly2775Ser,pathogenic
Q02388:p.Pro2776Leu,benign
Q02388:p.Glu2782Ala,benign
Q02388:p.Arg2791Trp,pathogenic
Q02388:p.Met2798Lys,pathogenic
Q02388:p.Ser2818Arg,benign
Q02388:p.Gly2825Arg,benign
Q02388:p.Glu2857Lys,benign
Q02388:p.Ala2868Thr,benign
Q02388:p.Thr2898Pro,benign
Q02388:p.Ser2900Gly,benign
Q02388:p.Val2934Ala,benign
Q02388:p.Gln2937Arg,benign
Q02388:p.Thr2939Ile,benign
Q02388:p.Thr2939Arg,benign
Q02388:p.Thr2941Ala,benign
Q02388:p.Ala2942Ile,benign
Q02388:p.Ala2942Thr,benign
P08100:p.Thr4Lys,pathogenic
P08100:p.Pro7Glu,benign
P08100:p.Asn8Asp,benign
P08100:p.Val11Ile,benign
P08100:p.Phe13Met,benign
P08100:p.Asn15Ser,pathogenic
P08100:p.Ala16Ile,benign
P08100:p.Ala16Lys,benign
P08100:p.Ala16Gln,benign
P08100:p.Thr17Met,pathogenic
P08100:p.Pro23His,pathogenic
P08100:p.Pro23Leu,pathogenic
P08100:p.Tyr26Phe,benign
P08100:p.Tyr26Gln,benign
P08100:p.Tyr26Ser,benign
P08100:p.Gln28His,pathogenic
P08100:p.Met39Ile,benign
P08100:p.Leu40Arg,pathogenic
P08100:p.Met44Thr,pathogenic
P08100:p.Phe45Leu,pathogenic
P08100:p.Leu46Met,benign
P08100:p.Leu46Arg,pathogenic
P08100:p.Gly51Arg,pathogenic
P08100:p.Gly51Val,pathogenic
P08100:p.Pro53Arg,pathogenic
P08100:p.Thr58Arg,pathogenic
P08100:p.Val63Ile,benign
P08100:p.Ile75Val,benign
P08100:p.Asp83Asn,benign
P08100:p.Val87Asp,pathogenic
P08100:p.Leu88Phe,benign
P08100:p.Gly89Asp,pathogenic
P08100:p.Gly90Asp,pathogenic
P08100:p.Thr92Pro,benign
P08100:p.Ser93Thr,benign
P08100:p.Thr94Ile,pathogenic
P08100:p.Leu99Met,benign
P08100:p.His100Asn,benign
P08100:p.Val104Ile,benign
P08100:p.Gly106Arg,pathogenic
P08100:p.Gly106Trp,pathogenic
P08100:p.Pro107Ala,benign
P08100:p.Thr108Ala,benign
P08100:p.Gly109Arg,pathogenic
P08100:p.Cys110Phe,pathogenic
P08100:p.Cys110Tyr,pathogenic
P08100:p.Leu112Ala,benign
P08100:p.Leu112Ile,benign
P08100:p.Leu112Met,benign
P08100:p.Leu112Val,benign
P08100:p.Gly114Asp,pathogenic
P08100:p.Phe116Ser,benign
P08100:p.Ala124Gly,benign
P08100:p.Leu125Arg,pathogenic
P08100:p.Ser127Phe,pathogenic
P08100:p.Leu131Pro,pathogenic
P08100:p.Arg135Gly,pathogenic
P08100:p.Arg135Leu,pathogenic
P08100:p.Arg135Trp,pathogenic
P08100:p.Cys140Ser,pathogenic
P08100:p.Glu150Lys,pathogenic
P08100:p.Val157Leu,benign
P08100:p.Ala158Gly,benign
P08100:p.Ala158Ile,benign
P08100:p.Ala158Val,benign
P08100:p.Phe159Leu,benign
P08100:p.Val162Ile,benign
P08100:p.Ala164Glu,pathogenic
P08100:p.Ala164Val,pathogenic
P08100:p.Cys167Arg,pathogenic
P08100:p.Ala169Phe,benign
P08100:p.Ala169Val,benign
P08100:p.Pro171Leu,pathogenic
P08100:p.Pro171Gln,pathogenic
P08100:p.Pro171Ser,pathogenic
P08100:p.Ala173Phe,benign
P08100:p.Ala173Val,benign
P08100:p.Arg177Lys,benign
P08100:p.Tyr178Cys,pathogenic
P08100:p.Tyr178Asn,pathogenic
P08100:p.Pro180Ser,pathogenic
P08100:p.Pro180Thr,benign
P08100:p.Glu181Lys,pathogenic
P08100:p.Gly182Ser,pathogenic
P08100:p.Leu183Met,benign
P08100:p.Ser186Pro,pathogenic
P08100:p.Gly188Glu,pathogenic
P08100:p.Gly188Arg,pathogenic
P08100:p.Ile189Val,benign
P08100:p.Asp190Gly,pathogenic
P08100:p.Asp190Asn,pathogenic
P08100:p.Asp190Tyr,pathogenic
P08100:p.Leu194Pro,benign
P08100:p.Lys195Ser,benign
P08100:p.Val198Ile,benign
P08100:p.Met207Arg,pathogenic
P08100:p.His211Pro,pathogenic
P08100:p.His211Arg,pathogenic
P08100:p.Thr213Ala,benign
P08100:p.Thr213Ser,benign
P08100:p.Ile214Asn,pathogenic
P08100:p.Ile214Thr,benign
P08100:p.Met216Lys,pathogenic
P08100:p.Met216Leu,benign
P08100:p.Ile217Thr,benign
P08100:p.Ile217Val,benign
P08100:p.Ile218Val,benign
P08100:p.Phe220Cys,pathogenic
P08100:p.Phe220Ile,benign
P08100:p.Cys222Arg,pathogenic
P08100:p.Ala234Arg,benign
P08100:p.Ile255Val,benign
P08100:p.Ile256Leu,benign
P08100:p.Ile259Val,benign
P08100:p.Ala260Phe,benign
P08100:p.Val266Leu,benign
P08100:p.Pro267Leu,pathogenic
P08100:p.Pro267Arg,pathogenic
P08100:p.Ser270Gly,benign
P08100:p.Phe273Ala,benign
P08100:p.Phe273Met,benign
P08100:p.Ser281Phe,benign
P08100:p.Asn282Asp,benign
P08100:p.Ile286Thr,benign
P08100:p.Ile286Val,benign
P08100:p.Ile290Leu,benign
P08100:p.Ile290Val,benign
P08100:p.Ala292Glu,pathogenic
P08100:p.Lys296Glu,pathogenic
P08100:p.Ser297Ala,benign
P08100:p.Ser297Arg,pathogenic
P08100:p.Ser297Thr,benign
P08100:p.Ala298Ser,benign
P08100:p.Ala299Ser,benign
P08100:p.Val304Ile,benign
P08100:p.Asn315Thr,benign
P08100:p.Leu318Ile,benign
P08100:p.Leu318Val,benign
P08100:p.Ile321Leu,benign
P08100:p.Lys325Arg,benign
P08100:p.Leu328Phe,benign
P08100:p.Gly329Ala,benign
P08100:p.Asp330Glu,benign
P08100:p.Asp331Glu,benign
P08100:p.Ala333Gly,benign
P08100:p.Ala333Val,benign
P08100:p.Ser334Ala,benign
P08100:p.Ala335Thr,benign
P08100:p.Thr336Ser,benign
P08100:p.Val337Ala,benign
P08100:p.Val337Gly,benign
P08100:p.Val337Thr,benign
P08100:p.Thr342Met,pathogenic
P08100:p.Val345Leu,pathogenic
P08100:p.Val345Met,pathogenic
P08100:p.Pro347Ala,pathogenic
P08100:p.Pro347Leu,pathogenic
P08100:p.Pro347Gln,pathogenic
P08100:p.Pro347Arg,pathogenic
P08100:p.Pro347Ser,pathogenic
P08034:p.Trp3Arg,pathogenic
P08034:p.Trp3Ser,pathogenic
P08034:p.Thr4Ala,benign
P08034:p.Tyr7Cys,pathogenic
P08034:p.Thr8Ala,benign
P08034:p.Thr8Ile,pathogenic
P08034:p.Thr8Pro,pathogenic
P08034:p.Leu9Val,benign
P08034:p.Leu9Trp,pathogenic
P08034:p.Ser11Gly,pathogenic
P08034:p.Gly12Ser,pathogenic
P08034:p.Val13Leu,pathogenic
P08034:p.Val13Met,pathogenic
P08034:p.Asn14Lys,pathogenic
P08034:p.Arg15Gln,pathogenic
P08034:p.Arg15Trp,pathogenic
P08034:p.His16Pro,pathogenic
P08034:p.Ile20Ser,pathogenic
P08034:p.Gly21Asp,pathogenic
P08034:p.Arg22Gly,pathogenic
P08034:p.Arg22Pro,pathogenic
P08034:p.Arg22Gln,pathogenic
P08034:p.Val23Ala,pathogenic
P08034:p.Val23Ile,benign
P08034:p.Trp24Cys,pathogenic
P08034:p.Leu25Phe,pathogenic
P08034:p.Leu25Pro,pathogenic
P08034:p.Ser26Leu,pathogenic
P08034:p.Ser26Trp,pathogenic
P08034:p.Ile28Asn,pathogenic
P08034:p.Ile28Thr,pathogenic
P08034:p.Phe29Leu,pathogenic
P08034:p.Ile30Asn,pathogenic
P08034:p.Ile30Thr,pathogenic
P08034:p.Met34Ile,pathogenic
P08034:p.Met34Lys,pathogenic
P08034:p.Met34Thr,pathogenic
P08034:p.Met34Val,pathogenic
P08034:p.Val35Met,pathogenic
P08034:p.Val37Met,pathogenic
P08034:p.Val38Met,pathogenic
P08034:p.Ala39Pro,pathogenic
P08034:p.Ala39Val,pathogenic
P08034:p.Ala40Thr,pathogenic
P08034:p.Ala40Val,pathogenic
P08034:p.Glu41Lys,pathogenic
P08034:p.Val43Met,pathogenic
P08034:p.Trp44Leu,pathogenic
P08034:p.Ser49Pro,pathogenic
P08034:p.Ser49Tyr,pathogenic
P08034:p.Ser50Pro,pathogenic
P08034:p.Ile52Val,benign
P08034:p.Cys53Ser,pathogenic
P08034:p.Thr55Ala,pathogenic
P08034:p.Thr55Ile,pathogenic
P08034:p.Thr55Arg,pathogenic
P08034:p.Leu56Phe,pathogenic
P08034:p.Gln57His,pathogenic
P08034:p.Gly59Cys,pathogenic
P08034:p.Gly59Arg,pathogenic
P08034:p.Cys60Phe,pathogenic
P08034:p.Val63Ile,pathogenic
P08034:p.Cys64Phe,pathogenic
P08034:p.Cys64Ser,pathogenic
P08034:p.Tyr65Cys,pathogenic
P08034:p.Tyr65His,pathogenic
P08034:p.Gln67His,benign
P08034:p.Phe69Leu,pathogenic
P08034:p.Pro70Ala,pathogenic
P08034:p.Arg75Pro,pathogenic
P08034:p.Arg75Gln,pathogenic
P08034:p.Arg75Trp,pathogenic
P08034:p.Trp77Ser,pathogenic
P08034:p.Ser78Ala,benign
P08034:p.Gln80Arg,pathogenic
P08034:p.Leu81Phe,pathogenic
P08034:p.Leu83Pro,pathogenic
P08034:p.Val84Ile,pathogenic
P08034:p.Ser85Cys,pathogenic
P08034:p.Ser85Phe,pathogenic
P08034:p.Thr86Ala,pathogenic
P08034:p.Thr86Asn,pathogenic
P08034:p.Thr86Ser,pathogenic
P08034:p.Pro87Ala,pathogenic
P08034:p.Pro87Leu,pathogenic
P08034:p.Pro87Ser,pathogenic
P08034:p.Leu89Pro,pathogenic
P08034:p.Leu90His,pathogenic
P08034:p.Leu90Val,pathogenic
P08034:p.Val91Met,pathogenic
P08034:p.Met93Val,pathogenic
P08034:p.His94Asp,pathogenic
P08034:p.His94Pro,benign
P08034:p.His94Gln,pathogenic
P08034:p.His94Tyr,pathogenic
P08034:p.Val95Met,pathogenic
P08034:p.His100Tyr,pathogenic
P08034:p.Ile101Leu,benign
P08034:p.Ile101Met,benign
P08034:p.Glu102Gly,pathogenic
P08034:p.Lys103Glu,pathogenic
P08034:p.Lys104Thr,pathogenic
P08034:p.Met105Ile,benign
P08034:p.Met105Leu,benign
P08034:p.Arg107Trp,pathogenic
P08034:p.Leu108Pro,pathogenic
P08034:p.Leu108Arg,benign
P08034:p.His111Leu,benign
P08034:p.Gly112Ala,benign
P08034:p.Gly112Thr,benign
P08034:p.Gly112Val,benign
P08034:p.Leu115Ile,benign
P08034:p.His116Gln,benign
P08034:p.Leu117Met,benign
P08034:p.Val120Glu,pathogenic
P08034:p.Arg122Lys,benign
P08034:p.Lys124Asn,pathogenic
P08034:p.Val125Asp,pathogenic
P08034:p.Val125Phe,benign
P08034:p.His126Tyr,pathogenic
P08034:p.Ile127Met,pathogenic
P08034:p.Ile127Ser,pathogenic
P08034:p.Ser128Pro,pathogenic
P08034:p.Thr130Ile,pathogenic
P08034:p.Thr130Arg,benign
P08034:p.Leu131Pro,pathogenic
P08034:p.Trp133Cys,pathogenic
P08034:p.Trp133Arg,pathogenic
P08034:p.Thr134Ala,benign
P08034:p.Tyr135Cys,pathogenic
P08034:p.Val136Ala,pathogenic
P08034:p.Val136Ile,benign
P08034:p.Ser138Asn,pathogenic
P08034:p.Val139Ile,benign
P08034:p.Val139Met,pathogenic
P08034:p.Val140Ile,benign
P08034:p.Val140Leu,benign
P08034:p.Phe141Leu,pathogenic
P08034:p.Arg142Glu,pathogenic
P08034:p.Arg142Gln,pathogenic
P08034:p.Arg142Trp,pathogenic
P08034:p.Leu144Met,benign
P08034:p.Glu146Lys,pathogenic
P08034:p.Ala147Asp,pathogenic
P08034:p.Val148Ala,benign
P08034:p.Val148Ile,benign
P08034:p.Phe149Ile,pathogenic
P08034:p.Phe149Val,pathogenic
P08034:p.Met150Leu,benign
P08034:p.Tyr151Ser,pathogenic
P08034:p.Phe153Ser,pathogenic
P08034:p.Leu156Phe,pathogenic
P08034:p.Leu156Arg,pathogenic
P08034:p.Tyr157Cys,pathogenic
P08034:p.Pro158Ala,pathogenic
P08034:p.Pro158Arg,pathogenic
P08034:p.Pro158Ser,pathogenic
P08034:p.Gly159Asp,pathogenic
P08034:p.Gly159Ser,pathogenic
P08034:p.Tyr160His,pathogenic
P08034:p.Ala161Pro,pathogenic
P08034:p.Ala161Thr,benign
P08034:p.Val163Met,benign
P08034:p.Arg164Gln,pathogenic
P08034:p.Arg164Trp,pathogenic
P08034:p.Val166Gly,benign
P08034:p.Lys167Arg,benign
P08034:p.Cys168Arg,pathogenic
P08034:p.Cys168Tyr,pathogenic
P08034:p.Asp169Glu,benign
P08034:p.Val170Ala,benign
P08034:p.Val170Ile,benign
P08034:p.Val170Ser,benign
P08034:p.Tyr171Phe,benign
P08034:p.Tyr171His,benign
P08034:p.Pro172Ala,pathogenic
P08034:p.Pro172Leu,pathogenic
P08034:p.Pro172Arg,pathogenic
P08034:p.Pro172Ser,pathogenic
P08034:p.Cys173Arg,pathogenic
P08034:p.Cys173Ser,benign
P08034:p.Thr176Ile,benign
P08034:p.Thr176Val,benign
P08034:p.Val177Ala,pathogenic
P08034:p.Val177Glu,pathogenic
P08034:p.Val177Gly,benign
P08034:p.Asp178Tyr,pathogenic
P08034:p.Cys179Arg,pathogenic
P08034:p.Phe180Leu,pathogenic
P08034:p.Phe180Ser,pathogenic
P08034:p.Val181Ala,pathogenic
P08034:p.Val181Met,pathogenic
P08034:p.Ser182Thr,pathogenic
P08034:p.Arg183Cys,pathogenic
P08034:p.Arg183His,pathogenic
P08034:p.Arg183Ser,pathogenic
P08034:p.Pro184Leu,pathogenic
P08034:p.Pro184Arg,pathogenic
P08034:p.Glu186Lys,pathogenic
P08034:p.Lys187Glu,pathogenic
P08034:p.Val189Gly,pathogenic
P08034:p.Val189Ile,pathogenic
P08034:p.Thr191Ala,pathogenic
P08034:p.Val192Phe,pathogenic
P08034:p.Phe193Cys,pathogenic
P08034:p.Phe193Leu,pathogenic
P08034:p.Met194Val,pathogenic
P08034:p.Ala196Thr,benign
P08034:p.Ala196Val,benign
P08034:p.Ala197Thr,benign
P08034:p.Ser198Phe,pathogenic
P08034:p.Gly199Arg,pathogenic
P08034:p.Cys201Arg,pathogenic
P08034:p.Cys201Tyr,pathogenic
P08034:p.Ile203Asn,pathogenic
P08034:p.Ile203Val,benign
P08034:p.Leu204Phe,pathogenic
P08034:p.Leu204Val,pathogenic
P08034:p.Asn205Ile,pathogenic
P08034:p.Asn205Ser,pathogenic
P08034:p.Val206Leu,benign
P08034:p.Val206Met,benign
P08034:p.Glu208Gly,pathogenic
P08034:p.Glu208Lys,pathogenic
P08034:p.Tyr211His,pathogenic
P08034:p.Ile213Val,pathogenic
P08034:p.Ile214Phe,benign
P08034:p.Ile214Val,benign
P08034:p.Arg215Gln,pathogenic
P08034:p.Arg215Trp,pathogenic
P08034:p.Arg219Cys,pathogenic
P08034:p.Arg219His,pathogenic
P08034:p.Arg220Gly,pathogenic
P08034:p.Gln222Arg,benign
P08034:p.Arg223His,benign
P08034:p.Arg223Gln,benign
P08034:p.Arg224His,benign
P08034:p.Pro228Ser,benign
P08034:p.Arg230Cys,pathogenic
P08034:p.Arg230Leu,pathogenic
P08034:p.Gly234Ala,benign
P08034:p.Phe235Cys,pathogenic
P08034:p.Gly236Val,benign
P08034:p.Arg238His,pathogenic
P08034:p.Leu239Phe,benign
P08034:p.Leu239Ile,pathogenic
P08034:p.Pro241His,benign
P08034:p.Tyr243Cys,benign
P08034:p.Ile248Val,benign
P08034:p.Glu254Asp,benign
P08034:p.Gln255Pro,benign
P08034:p.Asp256Glu,benign
P08034:p.Ile262Phe,benign
P08034:p.Ile262Leu,benign
P08034:p.Arg264Cys,pathogenic
P08034:p.Gly268Val,benign
P08034:p.Thr269Ser,benign
P08034:p.Ala271Val,benign
P08034:p.Gly272Val,benign
P08034:p.Leu273Met,benign
P08034:p.Ala274Pro,benign
P08034:p.Ala274Thr,benign
P08034:p.Ser277Gly,benign
P08034:p.Cys280Gly,pathogenic
O75197:p.Met1Ala,benign
O75197:p.Met1Cys,benign
O75197:p.Met1Phe,benign
O75197:p.Met1His,benign
O75197:p.Met1Arg,benign
O75197:p.Glu2Ala,benign
O75197:p.Glu2Asp,benign
O75197:p.Glu2His,benign
O75197:p.Glu2Pro,benign
O75197:p.Glu2Arg,benign
O75197:p.Ala3Gly,benign
O75197:p.Ala3His,benign
O75197:p.Ala3Leu,benign
O75197:p.Ala3Met,benign
O75197:p.Ala3Ser,benign
O75197:p.Ala3Val,benign
O75197:p.Ala4Cys,benign
O75197:p.Ala4Gly,benign
O75197:p.Ala4Met,benign
O75197:p.Ala4Ser,benign
O75197:p.Ala4Thr,benign
O75197:p.Pro5Ala,benign
O75197:p.Pro5Glu,benign
O75197:p.Pro5Gly,benign
O75197:p.Pro5Met,benign
O75197:p.Pro5Arg,benign
O75197:p.Pro5Ser,benign
O75197:p.Pro5Thr,benign
O75197:p.Pro6Ala,benign
O75197:p.Pro6Asp,benign
O75197:p.Pro6Glu,benign
O75197:p.Pro6Leu,benign
O75197:p.Pro6Gln,benign
O75197:p.Pro6Arg,benign
O75197:p.Pro6Ser,benign
O75197:p.Gly7Ala,benign
O75197:p.Gly7Met,benign
O75197:p.Gly7Arg,benign
O75197:p.Gly7Ser,benign
O75197:p.Gly7Tyr,benign
O75197:p.Pro8Ala,benign
O75197:p.Pro8Gly,benign
O75197:p.Pro8Met,benign
O75197:p.Pro8Arg,benign
O75197:p.Pro8Thr,benign
O75197:p.Pro8Val,benign
O75197:p.Pro9Ala,benign
O75197:p.Pro9His,benign
O75197:p.Pro9Arg,benign
O75197:p.Pro9Val,benign
O75197:p.Trp10Ala,benign
O75197:p.Trp10Gly,benign
O75197:p.Trp10Pro,benign
O75197:p.Trp10Arg,benign
O75197:p.Trp10Ser,benign
O75197:p.Trp10Thr,benign
O75197:p.Trp10Val,benign
O75197:p.Pro11Ala,benign
O75197:p.Pro11Cys,benign
O75197:p.Pro11Asp,benign
O75197:p.Pro11Phe,benign
O75197:p.Pro11Gly,benign
O75197:p.Pro11Arg,benign
O75197:p.Pro11Ser,benign
O75197:p.Pro11Val,benign
O75197:p.Leu12Ala,benign
O75197:p.Leu12Gly,benign
O75197:p.Leu12His,benign
O75197:p.Leu12Pro,benign
O75197:p.Leu12Gln,benign
O75197:p.Leu12Arg,benign
O75197:p.Leu12Val,benign
O75197:p.Leu13Ala,benign
O75197:p.Leu13Asp,benign
O75197:p.Leu13Gly,benign
O75197:p.Leu13Pro,benign
O75197:p.Leu13Arg,benign
O75197:p.Leu13Ser,benign
O75197:p.Leu13Thr,benign
O75197:p.Leu13Val,benign
O75197:p.Leu13Trp,benign
O75197:p.Leu14Ala,benign
O75197:p.Leu14Cys,benign
O75197:p.Leu14Glu,benign
O75197:p.Leu14Ile,benign
O75197:p.Leu14Pro,benign
O75197:p.Leu14Arg,benign
O75197:p.Leu14Ser,benign
O75197:p.Leu14Val,benign
O75197:p.Leu15Ala,benign
O75197:p.Leu15Asp,benign
O75197:p.Leu15Pro,benign
O75197:p.Leu15Arg,benign
O75197:p.Leu15Ser,benign
O75197:p.Leu15Val,benign
O75197:p.Leu16Cys,benign
O75197:p.Leu16Glu,benign
O75197:p.Leu16Gly,benign
O75197:p.Leu16His,benign
O75197:p.Leu16Met,benign
O75197:p.Leu16Pro,benign
O75197:p.Leu16Gln,benign
O75197:p.Leu16Ser,benign
O75197:p.Leu16Thr,benign
O75197:p.Leu17Ala,benign
O75197:p.Leu17Cys,benign
O75197:p.Leu17Glu,benign
O75197:p.Leu17Gly,benign
O75197:p.Leu17Lys,benign
O75197:p.Leu17Met,benign
O75197:p.Leu17Pro,benign
O75197:p.Leu17Arg,benign
O75197:p.Leu17Val,benign
O75197:p.Leu18Ala,benign
O75197:p.Leu18His,benign
O75197:p.Leu18Lys,benign
O75197:p.Leu18Arg,benign
O75197:p.Leu18Ser,benign
O75197:p.Leu18Val,benign
O75197:p.Leu18Trp,benign
O75197:p.Leu19Ala,benign
O75197:p.Leu19Gly,benign
O75197:p.Leu19Ile,benign
O75197:p.Leu19Met,benign
O75197:p.Leu19Pro,benign
O75197:p.Leu19Ser,benign
O75197:p.Leu19Val,benign
O75197:p.Leu20Ala,benign
O75197:p.Leu20Gly,benign
O75197:p.Leu20Pro,benign
O75197:p.Leu20Ser,benign
O75197:p.Ala21Cys,benign
O75197:p.Ala21Gly,benign
O75197:p.Ala21Leu,benign
O75197:p.Ala21Met,benign
O75197:p.Ala21Pro,benign
O75197:p.Ala21Arg,benign
O75197:p.Ala21Thr,benign
O75197:p.Ala21Val,benign
O75197:p.Leu22Cys,benign
O75197:p.Leu22Asp,benign
O75197:p.Leu22Gly,benign
O75197:p.Leu22His,benign
O75197:p.Leu22Ile,benign
O75197:p.Leu22Pro,benign
O75197:p.Leu22Arg,benign
O75197:p.Leu22Ser,benign
O75197:p.Leu22Val,benign
O75197:p.Cys23Ala,benign
O75197:p.Cys23Glu,benign
O75197:p.Cys23Gly,benign
O75197:p.Cys23His,benign
O75197:p.Cys23Val,benign
O75197:p.Gly24Cys,benign
O75197:p.Gly24Phe,benign
O75197:p.Gly24Pro,benign
O75197:p.Gly24Ser,benign
O75197:p.Gly24Thr,benign
O75197:p.Cys25Ala,benign
O75197:p.Cys25His,benign
O75197:p.Cys25Leu,benign
O75197:p.Cys25Met,benign
O75197:p.Cys25Gln,benign
O75197:p.Cys25Ser,benign
O75197:p.Pro26Ala,benign
O75197:p.Pro26Ile,benign
O75197:p.Pro26Leu,benign
O75197:p.Pro26Ser,benign
O75197:p.Pro26Thr,benign
O75197:p.Pro26Trp,benign
O75197:p.Ala27Glu,benign
O75197:p.Ala27Pro,benign
O75197:p.Ala27Gln,benign
O75197:p.Pro28Gly,benign
O75197:p.Pro28Lys,benign
O75197:p.Pro28Arg,benign
O75197:p.Pro28Val,benign
O75197:p.Pro28Tyr,benign
O75197:p.Ala29Glu,benign
O75197:p.Ala29Phe,benign
O75197:p.Ala29Gly,benign
O75197:p.Ala29Met,benign
O75197:p.Ala29Pro,benign
O75197:p.Ala30Glu,benign
O75197:p.Ala30Gly,benign
O75197:p.Ala30Pro,benign
O75197:p.Ala30Arg,benign
O75197:p.Ala30Ser,benign
O75197:p.Ala30Thr,benign
O75197:p.Ala31Ser,benign
O75197:p.Gly50Arg,benign
O75197:p.Leu53Val,benign
O75197:p.Ser55Thr,benign
O75197:p.Ile57Val,benign
O75197:p.Ala76Thr,benign
O75197:p.Ala76Val,benign
O75197:p.Thr90Ile,benign
O75197:p.Gln94His,benign
O75197:p.Ala97Val,benign
O75197:p.Val99Thr,benign
O75197:p.Val103Ile,benign
O75197:p.Ile104Val,benign
O75197:p.Asp111Tyr,pathogenic
O75197:p.Leu145Phe,pathogenic
O75197:p.Arg154Met,pathogenic
O75197:p.Asp159Asn,benign
O75197:p.Gly171Arg,pathogenic
O75197:p.Gly171Val,pathogenic
O75197:p.Thr173Ile,benign
O75197:p.Thr173Met,pathogenic
O75197:p.Ser184Thr,benign
O75197:p.Lys187Asn,benign
O75197:p.Ile188Val,benign
O75197:p.Asp193Glu,benign
O75197:p.Asp203Asn,pathogenic
O75197:p.Glu205Asp,benign
O75197:p.Ala214Thr,pathogenic
O75197:p.Ala214Val,pathogenic
O75197:p.Gln230Gly,benign
O75197:p.Lys231Arg,benign
O75197:p.Val233Phe,benign
O75197:p.Glu234Leu,benign
O75197:p.Thr238Lys,benign
O75197:p.Ala242Cys,benign
O75197:p.Ala242Thr,pathogenic
O75197:p.Leu243Val,benign
O75197:p.Thr244Met,pathogenic
O75197:p.Thr244Gln,benign
O75197:p.Leu245Val,benign
O75197:p.Ser246Lys,benign
O75197:p.Asp248Arg,benign
O75197:p.Thr249Ser,benign
O75197:p.Leu250Glu,benign
O75197:p.Tyr251Cys,benign
O75197:p.Thr253Ile,pathogenic
O75197:p.Thr253Pro,benign
O75197:p.Trp255Leu,benign
O75197:p.Gln256Tyr,benign
O75197:p.Ser259Glu,benign
O75197:p.Ile260Val,benign
O75197:p.His261Lys,benign
O75197:p.Cys263Leu,benign
O75197:p.Asn264Gly,benign
O75197:p.Lys265Arg,benign
O75197:p.Arg266Lys,benign
O75197:p.Gly269Asp,benign
O75197:p.Gly269Glu,benign
O75197:p.Gly269Leu,benign
O75197:p.Lys270Gln,benign
O75197:p.Lys272Thr,benign
O75197:p.Glu273Pro,benign
O75197:p.Ile274Leu,benign
O75197:p.Leu275Gln,benign
O75197:p.Ser276Gly,benign
O75197:p.Ser276Arg,benign
O75197:p.Ala277Pro,benign
O75197:p.Ala277Ser,benign
O75197:p.Leu278Thr,benign
O75197:p.Tyr279Gly,benign
O75197:p.Tyr279Trp,benign
O75197:p.Ser280Gly,benign
O75197:p.Ser280Val,benign
O75197:p.Pro281Leu,benign
O75197:p.Met282Phe,benign
O75197:p.Met282Val,pathogenic
O75197:p.Met282Tyr,benign
O75197:p.Asp283Gln,benign
O75197:p.Asp283Ser,benign
O75197:p.Ile284Ala,benign
O75197:p.Ile284Leu,benign
O75197:p.Gln285Ala,benign
O75197:p.Val286Gln,benign
O75197:p.Leu287Trp,benign
O75197:p.Ser288Gly,benign
O75197:p.Ser288Gln,benign
O75197:p.Gln289Gly,benign
O75197:p.Gln289Pro,benign
O75197:p.Gln289Arg,benign
O75197:p.Gln289Ser,benign
O75197:p.Glu290Asp,benign
O75197:p.Arg291Phe,benign
O75197:p.Gln292His,benign
O75197:p.Pro293Leu,benign
O75197:p.Phe294Arg,benign
O75197:p.Phe294Ser,benign
O75197:p.Phe294Val,benign
O75197:p.Phe294Tyr,benign
O75197:p.Phe295Leu,benign
O75197:p.Phe295Tyr,benign
O75197:p.Arg298Gln,benign
O75197:p.Glu300Ala,benign
O75197:p.Asp302Asn,benign
O75197:p.Ser307Phe,pathogenic
O75197:p.Ser315Arg,benign
O75197:p.Ser315Val,benign
O75197:p.Thr320Ala,benign
O75197:p.Thr320Lys,benign
O75197:p.Arg334Lys,benign
O75197:p.Arg334Gln,benign
O75197:p.Arg348Trp,pathogenic
O75197:p.Arg353Gln,pathogenic
O75197:p.Ser356Leu,pathogenic
O75197:p.Val369Trp,benign
O75197:p.Asp370Glu,benign
O75197:p.Asp370Met,benign
O75197:p.Asp371Thr,benign
O75197:p.Ile372Ser,benign
O75197:p.Arg373Gly,benign
O75197:p.Tyr386His,benign
O75197:p.Thr390Lys,pathogenic
O75197:p.Ala400Glu,pathogenic
O75197:p.Tyr401Arg,benign
O75197:p.Gly404Arg,pathogenic
O75197:p.Ala407Lys,benign
O75197:p.Thr409Ala,pathogenic
O75197:p.Val411Ile,benign
O75197:p.Glu414Asp,benign
O75197:p.Ala422Thr,pathogenic
O75197:p.Tyr431Thr,benign
O75197:p.Asp434Asn,pathogenic
O75197:p.Glu441Lys,pathogenic
O75197:p.Arg444Cys,pathogenic
O75197:p.Glu456Asp,benign
O75197:p.Glu460Lys,pathogenic
O75197:p.Ala465Val,benign
O75197:p.Val469Ala,benign
O75197:p.Trp478Arg,pathogenic
O75197:p.Asn488His,benign
O75197:p.Gln492Arg,benign
O75197:p.Arg494Gln,pathogenic
O75197:p.Arg495His,benign
O75197:p.Arg495Gln,benign
O75197:p.Val496Ile,benign
O75197:p.Ala500Thr,benign
O75197:p.Trp504Cys,pathogenic
O75197:p.Asp511Ala,pathogenic
O75197:p.Lys516Arg,benign
O75197:p.Gly520Val,pathogenic
O75197:p.Ala522Thr,pathogenic
O75197:p.Asn531Asp,benign
O75197:p.Asn531Ile,pathogenic
O75197:p.Val532Ile,benign
O75197:p.Val532Met,benign
O75197:p.Thr535Met,pathogenic
O75197:p.Leu540Pro,pathogenic
O75197:p.Gly550Arg,pathogenic
O75197:p.Arg570Gln,pathogenic
O75197:p.Arg570Trp,pathogenic
O75197:p.Ser577Thr,benign
O75197:p.Val580Ile,benign
O75197:p.Val594Ala,benign
O75197:p.Lys598Arg,benign
O75197:p.Val599Ala,benign
O75197:p.Val599Ile,benign
O75197:p.Val600Ile,benign
O75197:p.Val600Met,benign
O75197:p.Arg608Glu,benign
O75197:p.Arg608Gly,benign
O75197:p.Arg608Lys,benign
O75197:p.Gly610Arg,pathogenic
O75197:p.Phe617Cys,pathogenic
O75197:p.His621Arg,benign
O75197:p.Ala622Ser,benign
O75197:p.Thr623Ala,benign
O75197:p.Arg624Lys,benign
O75197:p.Met637Thr,benign
O75197:p.Glu661Asp,benign
O75197:p.Asp683Asn,pathogenic
O75197:p.Ser685Ala,benign
O75197:p.Asn687His,benign
O75197:p.Met704Leu,benign
O75197:p.Val713Ile,benign
O75197:p.Met728Val,benign
O75197:p.Lys730Gln,benign
O75197:p.Tyr733His,pathogenic
O75197:p.Arg752Gly,pathogenic
O75197:p.Arg758Lys,benign
O75197:p.Lys772Glu,benign
O75197:p.Lys772Gln,benign
O75197:p.Ile775Val,benign
O75197:p.Arg785Lys,benign
O75197:p.Met797Ile,benign
O75197:p.Met797Val,benign
O75197:p.Thr798Ala,pathogenic
O75197:p.Asp801Asn,benign
O75197:p.Arg805Trp,pathogenic
O75197:p.Ala814Thr,benign
O75197:p.Ala814Val,benign
O75197:p.Gln816Arg,benign
O75197:p.Asn832Asp,benign
O75197:p.Asp856Asn,benign
O75197:p.Ser875Asn,benign
O75197:p.Arg877Gln,benign
O75197:p.Ile882Val,benign
O75197:p.His885Gln,benign
O75197:p.Met907Thr,benign
O75197:p.Met907Val,benign
O75197:p.Asn909Asp,benign
O75197:p.Asn909Ser,benign
O75197:p.Gly914Glu,benign
O75197:p.Ile920Val,benign
O75197:p.Gly922Asp,benign
O75197:p.Gly922Ser,benign
O75197:p.His924Arg,benign
O75197:p.Gly927Ser,benign
O75197:p.Tyr932His,benign
O75197:p.Ser937Thr,benign
O75197:p.Ser938Gly,benign
O75197:p.Thr945Ser,benign
O75197:p.Thr946Ala,benign
O75197:p.Thr946Ser,benign
O75197:p.Ser954Cys,benign
O75197:p.Ser954Gly,benign
O75197:p.His965Arg,benign
O75197:p.Ile970Val,benign
O75197:p.Lys980Arg,benign
O75197:p.Thr1008Ser,benign
O75197:p.Pro1010Ala,benign
O75197:p.Pro1010Thr,benign
O75197:p.Leu1016Pro,benign
O75197:p.Ser1017Gly,benign
O75197:p.Gly1019Ala,benign
O75197:p.Gly1019Ser,benign
O75197:p.Asn1021Ser,benign
O75197:p.Ile1031Val,benign
O75197:p.Ile1033Val,benign
O75197:p.Thr1045Ala,benign
O75197:p.Asn1046Asp,benign
O75197:p.Ser1054Asp,benign
O75197:p.Ser1054Asn,benign
O75197:p.Glu1056Asp,benign
O75197:p.Met1058Ile,benign
O75197:p.Val1060Met,benign
O75197:p.Arg1063His,benign
O75197:p.Asp1065Glu,benign
O75197:p.Lys1068Arg,benign
O75197:p.Val1073Ile,benign
O75197:p.Val1073Thr,benign
O75197:p.Ala1091Pro,benign
O75197:p.Ala1097Ser,benign
O75197:p.Asp1099Tyr,pathogenic
O75197:p.Arg1113Cys,pathogenic
O75197:p.Asn1121Asp,pathogenic
O75197:p.Thr1122Ala,benign
O75197:p.Thr1122Ile,benign
O75197:p.Thr1122Arg,benign
O75197:p.Thr1122Ser,benign
O75197:p.Val1129Ala,benign
O75197:p.Asn1153Ser,benign
O75197:p.Leu1158Met,benign
O75197:p.Leu1158Val,benign
O75197:p.Ile1162Val,benign
O75197:p.Lys1165Gln,benign
O75197:p.Lys1165Arg,benign
O75197:p.Tyr1168His,pathogenic
O75197:p.Ile1170Thr,benign
O75197:p.Glu1181Asp,benign
O75197:p.Lys1187Ala,benign
O75197:p.Ile1191Val,benign
O75197:p.Ala1196Thr,benign
O75197:p.Gly1200Ser,benign
O75197:p.Ala1203Gly,benign
O75197:p.Glu1206Asp,benign
O75197:p.Val1207Ile,benign
O75197:p.Ser1208Asn,benign
O75197:p.Leu1209Gln,benign
O75197:p.Ile1229Val,benign
O75197:p.Cys1253Phe,pathogenic
O75197:p.Ala1301Ser,benign
O75197:p.Pro1304Gln,benign
O75197:p.Leu1313Met,benign
O75197:p.Arg1314Ser,benign
O75197:p.Gly1319Ala,benign
O75197:p.Glu1320Ser,benign
O75197:p.Ala1321Leu,benign
O75197:p.Ala1321Val,benign
O75197:p.Asp1322Asn,benign
O75197:p.Cys1323Ala,benign
O75197:p.Cys1323His,benign
O75197:p.Gln1324Arg,benign
O75197:p.Asp1325Leu,benign
O75197:p.Asp1325Ser,benign
O75197:p.Arg1326Leu,benign
O75197:p.Ser1327Leu,benign
O75197:p.Ser1327Asn,benign
O75197:p.Asp1328Ala,benign
O75197:p.Asp1328Glu,benign
O75197:p.Glu1329Arg,benign
O75197:p.Ala1330Leu,benign
O75197:p.Ala1330Met,benign
O75197:p.Asp1331Leu,benign
O75197:p.Asp1331Thr,benign
O75197:p.Cys1332Leu,benign
O75197:p.Asp1333Ala,benign
O75197:p.Asp1333Ser,benign
O75197:p.Ile1335Val,benign
O75197:p.Asn1339Ser,benign
O75197:p.Leu1350Pro,benign
O75197:p.Ser1357Pro,benign
O75197:p.Cys1361Gly,pathogenic
O75197:p.Ile1362Met,benign
O75197:p.Ile1362Val,benign
O75197:p.Glu1367Lys,pathogenic
O75197:p.Thr1373Ala,benign
O75197:p.Thr1373Asn,benign
O75197:p.Pro1375Leu,benign
O75197:p.Asp1379Glu,benign
O75197:p.Ser1380Gly,benign
O75197:p.Ser1380Thr,benign
O75197:p.Pro1381Gly,benign
O75197:p.Ala1382Gly,benign
O75197:p.Ser1384Gly,benign
O75197:p.Ile1387Val,benign
O75197:p.Ile1391Val,benign
O75197:p.Ser1396Thr,benign
O75197:p.Val1399Ile,benign
O75197:p.Gly1401Asp,pathogenic
O75197:p.Val1403Ile,benign
O75197:p.Val1403Leu,benign
O75197:p.Ala1416Ser,benign
O75197:p.Ala1416Thr,benign
O75197:p.Asn1419Ser,benign
O75197:p.Asn1419Thr,benign
O75197:p.Asn1436His,benign
O75197:p.Gly1442Ser,benign
O75197:p.Ser1443Ala,benign
O75197:p.Thr1449Pro,benign
O75197:p.Ala1452Ser,benign
O75197:p.Ala1452Thr,benign
O75197:p.Gly1454Ser,benign
O75197:p.Met1457Val,benign
O75197:p.Ser1459Gly,benign
O75197:p.Gly1468Ala,benign
O75197:p.Gly1468Ser,benign
O75197:p.Gly1469Arg,benign
O75197:p.Val1470Ala,benign
O75197:p.Tyr1494Ser,benign
O75197:p.Met1513Val,benign
O75197:p.Asp1514Glu,benign
O75197:p.Met1515Val,benign
O75197:p.Ser1518Pro,benign
O75197:p.Ser1519Ala,benign
O75197:p.Asn1520Gly,benign
O75197:p.Asn1520Ser,benign
O75197:p.Ala1523Thr,benign
O75197:p.Thr1524Ala,benign
O75197:p.Ala1525Thr,benign
O75197:p.Pro1527Ala,benign
O75197:p.Met1536Val,benign
O75197:p.Asp1549Tyr,benign
O75197:p.Ala1554Thr,benign
O75197:p.Ser1555Asn,benign
O75197:p.Ser1555Thr,benign
O75197:p.Leu1584Met,benign
O75197:p.Pro1591Ser,benign
O75197:p.Ala1595Val,benign
O75197:p.Phe1601Cys,benign
O75197:p.Phe1601Ser,benign
O76090:p.Ile3Thr,pathogenic
O76090:p.Thr6Pro,pathogenic
O76090:p.Thr6Arg,pathogenic
O76090:p.Val9Ala,pathogenic
O76090:p.Val9Met,pathogenic
O76090:p.Ala10Thr,pathogenic
O76090:p.Ala10Val,pathogenic
O76090:p.Asn11Ile,pathogenic
O76090:p.Arg13His,pathogenic
O76090:p.Ser16Phe,pathogenic
O76090:p.Phe17Cys,pathogenic
O76090:p.Leu21Val,pathogenic
O76090:p.Trp24Cys,pathogenic
O76090:p.Arg25Gln,pathogenic
O76090:p.Arg25Trp,pathogenic
O76090:p.Gly26Arg,pathogenic
O76090:p.Ser27Arg,pathogenic
O76090:p.Tyr29His,pathogenic
O76090:p.Lys30Arg,pathogenic
O76090:p.Leu37Phe,benign
O76090:p.Leu41Pro,pathogenic
O76090:p.Arg47His,pathogenic
O76090:p.Gln58Leu,pathogenic
O76090:p.Ile73Asn,pathogenic
O76090:p.Phe80Leu,pathogenic
O76090:p.Leu82Val,pathogenic
O76090:p.Tyr85His,pathogenic
O76090:p.Val86Met,pathogenic
O76090:p.Val89Ala,pathogenic
O76090:p.Thr91Ile,pathogenic
O76090:p.Arg92Cys,pathogenic
O76090:p.Arg92His,pathogenic
O76090:p.Arg92Ser,pathogenic
O76090:p.Trp93Cys,pathogenic
O76090:p.Gln96His,pathogenic
O76090:p.Asn99Lys,pathogenic
O76090:p.Leu100Arg,pathogenic
O76090:p.Pro101Thr,pathogenic
O76090:p.Trp102Arg,pathogenic
O76090:p.Asp104Glu,pathogenic
O76090:p.Asp104His,pathogenic
O76090:p.Phe113Leu,pathogenic
O76090:p.Asn133Lys,pathogenic
O76090:p.Gly135Ser,pathogenic
O76090:p.Leu140Arg,pathogenic
O76090:p.Leu140Val,pathogenic
O76090:p.Arg141His,pathogenic
O76090:p.Ala146Lys,pathogenic
O76090:p.Pro152Ala,pathogenic
O76090:p.Ser175Asn,benign
O76090:p.Ala195Val,pathogenic
O76090:p.Ile201Thr,pathogenic
O76090:p.Ile205Thr,pathogenic
O76090:p.Leu207Ile,pathogenic
O76090:p.Ser209Asn,pathogenic
O76090:p.Arg218Cys,pathogenic
O76090:p.Arg218His,pathogenic
O76090:p.Arg218Gln,pathogenic
O76090:p.Arg218Ser,pathogenic
O76090:p.Cys221Trp,pathogenic
O76090:p.Leu224Met,pathogenic
O76090:p.Leu224Pro,pathogenic
O76090:p.Tyr227Cys,pathogenic
O76090:p.Tyr227Asn,pathogenic
O76090:p.Asp228Asn,pathogenic
O76090:p.Ser231Arg,pathogenic
O76090:p.Val235Leu,pathogenic
O76090:p.Val235Met,pathogenic
O76090:p.Tyr236Cys,pathogenic
O76090:p.Thr237Arg,pathogenic
O76090:p.Val239Met,pathogenic
O76090:p.Thr241Asn,pathogenic
O76090:p.Val242Met,pathogenic
O76090:p.Ala243Thr,pathogenic
O76090:p.Ala243Val,pathogenic
O76090:p.Phe276Leu,pathogenic
O76090:p.Gln293Lys,pathogenic
O76090:p.Leu294Val,pathogenic
O76090:p.Ile295Thr,pathogenic
O76090:p.Asn296His,pathogenic
O76090:p.Asn296Ser,pathogenic
O76090:p.Pro297Ala,pathogenic
O76090:p.Pro297Ser,pathogenic
O76090:p.Phe298Ser,pathogenic
O76090:p.Gly299Ala,pathogenic
O76090:p.Gly299Glu,pathogenic
O76090:p.Glu300Asp,pathogenic
O76090:p.Glu300Lys,pathogenic
O76090:p.Asp301Glu,pathogenic
O76090:p.Asp301Asn,pathogenic
O76090:p.Asp302Gly,pathogenic
O76090:p.Asp302His,pathogenic
O76090:p.Asp302Val,pathogenic
O76090:p.Asp303Glu,pathogenic
O76090:p.Phe305Ser,pathogenic
O76090:p.Glu306Asp,pathogenic
O76090:p.Glu306Gly,pathogenic
O76090:p.Thr307Ala,pathogenic
O76090:p.Thr307Ile,pathogenic
O76090:p.Asn308Ser,pathogenic
O76090:p.Ile310Thr,pathogenic
O76090:p.Val311Gly,pathogenic
O76090:p.Asp312Asn,pathogenic
O76090:p.Val317Met,pathogenic
O76090:p.Leu320Phe,benign
O76090:p.Met325Thr,pathogenic
O76090:p.Lys340Glu,benign
O76090:p.Gln344His,benign
O76090:p.Ala357Thr,benign
O76090:p.Asn369Ser,benign
O76090:p.Asn369Tyr,benign
O76090:p.Glu382Asp,benign
O76090:p.Glu382Lys,benign
O76090:p.Ala387Thr,benign
O76090:p.Gly391Asp,benign
O76090:p.His402Gln,benign
O76090:p.Pro403Ser,benign
O76090:p.Arg405Gly,benign
O76090:p.Ala406Thr,benign
O76090:p.Ala431Thr,benign
O76090:p.Ala432Val,benign
O76090:p.Val436Phe,benign
O76090:p.Val436Ile,benign
O76090:p.Val436Leu,benign
O76090:p.Gln439Leu,benign
O76090:p.Asn442Lys,benign
O76090:p.Lys443Ala,benign
O76090:p.Ala452Thr,benign
O76090:p.Leu481Pro,benign
O76090:p.Ala485Val,benign
O76090:p.Pro486Leu,benign
O76090:p.Leu502Pro,benign
O76090:p.Val505Ala,benign
O76090:p.Lys511Asn,benign
O76090:p.Ser512Cys,benign
O76090:p.Phe513Ser,benign
O76090:p.Glu518Gly,benign
O76090:p.Pro527Ser,benign
O76090:p.Gln531His,benign
O76090:p.Gln531Pro,benign
O76090:p.Arg534Lys,benign
O76090:p.Thr542Met,benign
O76090:p.Met544Thr,benign
O76090:p.Pro555Leu,benign
O76090:p.Glu557Gln,benign
O76090:p.Gln558Leu,benign
O76090:p.Pro560Thr,benign
O76090:p.Thr561Ser,benign
O76090:p.Thr565Ala,benign
O76090:p.Lys568Arg,benign
O76090:p.Met571Val,benign
O76090:p.Asp581Ser,benign
O76090:p.Glu582Val,benign
O76090:p.Ala583Leu,benign
O76090:p.His584Tyr,benign
P02461:p.Ile20Val,benign
P02461:p.Ser38Thr,benign
P02461:p.Val166Ile,benign
P02461:p.Val166Leu,benign
P02461:p.Leu169Phe,pathogenic
P02461:p.Leu169Tyr,benign
P02461:p.Gly183Cys,pathogenic
P02461:p.Gly183Asp,pathogenic
P02461:p.Gly183Ser,pathogenic
P02461:p.Gly192Val,pathogenic
P02461:p.Gly201Arg,pathogenic
P02461:p.Gly204Asp,pathogenic
P02461:p.Gly204Ser,pathogenic
P02461:p.Gly210Asp,pathogenic
P02461:p.Ser212Ala,benign
P02461:p.Gly219Cys,pathogenic
P02461:p.Ala220Thr,benign
P02461:p.Ile221Met,benign
P02461:p.Gly225Val,pathogenic
P02461:p.Gly228Glu,pathogenic
P02461:p.Gly240Arg,pathogenic
P02461:p.Gly243Val,pathogenic
P02461:p.Gly249Asp,pathogenic
P02461:p.Gly249Val,pathogenic
P02461:p.Gly252Asp,pathogenic
P02461:p.Gly252Arg,pathogenic
P02461:p.Gly252Val,pathogenic
P02461:p.Gly255Val,pathogenic
P02461:p.Gly264Arg,pathogenic
P02461:p.Gly267Val,pathogenic
P02461:p.Asn272Ala,benign
P02461:p.Gly297Arg,pathogenic
P02461:p.Ala304Thr,benign
P02461:p.Gly321Val,pathogenic
P02461:p.Gly327Asp,pathogenic
P02461:p.Gly345Arg,pathogenic
P02461:p.Ser358Ala,benign
P02461:p.Asn362Ser,benign
P02461:p.Ala364Asp,benign
P02461:p.Ala364Val,benign
P02461:p.Pro373Leu,benign
P02461:p.His376Gln,benign
P02461:p.Ile388Ser,benign
P02461:p.Asn389Ser,benign
P02461:p.Met410Ile,benign
P02461:p.Gly417Arg,pathogenic
P02461:p.Ala419Pro,benign
P02461:p.Lys440Arg,benign
P02461:p.Gly444Arg,pathogenic
P02461:p.Ile454Thr,benign
P02461:p.Val457Ile,benign
P02461:p.Gly489Glu,pathogenic
P02461:p.Ile499Val,benign
P02461:p.Gly501Arg,pathogenic
P02461:p.Glu508Asp,benign
P02461:p.Gly519Val,pathogenic
P02461:p.Val529Leu,benign
P02461:p.Gly540Arg,pathogenic
P02461:p.Gly549Glu,pathogenic
P02461:p.Gly552Glu,pathogenic
P02461:p.Gly567Glu,pathogenic
P02461:p.Gly582Ser,pathogenic
P02461:p.Gly588Asp,pathogenic
P02461:p.Pro608Ala,benign
P02461:p.Gly636Arg,pathogenic
P02461:p.Gln638Pro,benign
P02461:p.Gly657Glu,pathogenic
P02461:p.Gly660Asp,pathogenic
P02461:p.Gly666Asp,pathogenic
P02461:p.Ala667Ser,benign
P02461:p.Gly699Arg,pathogenic
P02461:p.Ala709Pro,benign
P02461:p.Ala718Thr,benign
P02461:p.Thr721Ser,benign
P02461:p.Gly726Arg,pathogenic
P02461:p.Leu734Pro,benign
P02461:p.Gly738Ser,pathogenic
P02461:p.Gly738Val,pathogenic
P02461:p.Gly744Val,pathogenic
P02461:p.Pro749Ala,benign
P02461:p.Gly756Glu,pathogenic
P02461:p.Gly762Cys,pathogenic
P02461:p.Gly786Arg,pathogenic
P02461:p.Ser796Gly,benign
P02461:p.Thr803Pro,benign
P02461:p.Gly804Ser,pathogenic
P02461:p.Gly828Arg,pathogenic
P02461:p.Gly828Trp,pathogenic
P02461:p.Gly852Cys,pathogenic
P02461:p.Glu862Asp,benign
P02461:p.Gly879Val,pathogenic
P02461:p.Gly882Asp,pathogenic
P02461:p.Ser886Asn,benign
P02461:p.Pro895Ala,benign
P02461:p.Ser896Gly,benign
P02461:p.Gly900Asp,pathogenic
P02461:p.Gly903Glu,pathogenic
P02461:p.Pro905Ala,benign
P02461:p.Gly909Asp,pathogenic
P02461:p.Gly909Val,pathogenic
P02461:p.Gly918Glu,pathogenic
P02461:p.Gly924Cys,pathogenic
P02461:p.Gly936Arg,pathogenic
P02461:p.Gly936Ser,pathogenic
P02461:p.Ala937Pro,benign
P02461:p.Gly939Asp,pathogenic
P02461:p.Gly942Glu,pathogenic
P02461:p.Gly957Ser,pathogenic
P02461:p.Gly960Val,pathogenic
P02461:p.Gly966Val,pathogenic
P02461:p.Ser970Asn,benign
P02461:p.Gly972Ala,pathogenic
P02461:p.Gly984Thr,pathogenic
P02461:p.Ala985Val,benign
P02461:p.Ser989Asn,benign
P02461:p.Gly996Glu,pathogenic
P02461:p.Gly999Arg,pathogenic
P02461:p.Thr1006Ala,benign
P02461:p.Gly1011Glu,pathogenic
P02461:p.Gly1014Glu,pathogenic
P02461:p.Asn1015Thr,benign
P02461:p.Gly1032Val,pathogenic
P02461:p.Gly1035Cys,pathogenic
P02461:p.Gly1044Asp,pathogenic
P02461:p.Gly1050Asp,pathogenic
P02461:p.Gly1050Val,pathogenic
P02461:p.Ala1058Ser,benign
P02461:p.Ser1067Thr,benign
P02461:p.Gly1071Val,pathogenic
P02461:p.Gly1077Val,pathogenic
P02461:p.Ser1081Ala,benign
P02461:p.Gly1089Asp,pathogenic
P02461:p.Gly1098Asp,pathogenic
P02461:p.Gly1098Val,pathogenic
P02461:p.Gly1101Glu,pathogenic
P02461:p.Ala1103Asn,benign
P02461:p.Ala1103Thr,benign
P02461:p.Gly1104Ala,pathogenic
P02461:p.Asn1114Ser,benign
P02461:p.Gln1126His,benign
P02461:p.Ile1130Leu,benign
P02461:p.Ile1130Val,benign
P02461:p.Pro1148Ala,benign
P02461:p.Gly1161Val,pathogenic
P02461:p.Gly1164Glu,pathogenic
P02461:p.Gly1164Arg,pathogenic
P02461:p.Gly1167Val,pathogenic
P02461:p.Gly1170Asp,pathogenic
P02461:p.Gly1170Val,pathogenic
P02461:p.Gly1173Glu,pathogenic
P02461:p.Gly1173Arg,pathogenic
P02461:p.Gly1176Val,pathogenic
P02461:p.Gly1179Arg,pathogenic
P02461:p.Gly1182Glu,pathogenic
P02461:p.Gly1185Asp,pathogenic
P02461:p.Gly1185Val,pathogenic
P02461:p.Gly1188Glu,pathogenic
P02461:p.Gly1188Arg,pathogenic
P02461:p.Gly1199Ala,benign
P02461:p.Val1200Ile,benign
P02461:p.Gly1201Ala,benign
P02461:p.Ala1202Gly,benign
P02461:p.Ala1203Ile,benign
P02461:p.Ala1204Gly,benign
P02461:p.Ile1205Gly,benign
P02461:p.Ala1206Glu,benign
P02461:p.Gly1207Glu,benign
P02461:p.Gly1207Lys,benign
P02461:p.Ile1208Ala,benign
P02461:p.Ile1208Lys,benign
P02461:p.Ile1208Val,benign
P02461:p.Gly1209Ala,benign
P02461:p.Glu1211Phe,benign
P02461:p.Glu1211Gly,benign
P02461:p.Lys1212Ala,benign
P02461:p.Lys1212Phe,benign
P02461:p.Gly1214Pro,benign
P02461:p.Asp1226Glu,benign
P02461:p.Thr1236Asn,benign
P02461:p.Ser1254Thr,benign
P02461:p.Lys1266Asn,benign
P02461:p.Val1279Ile,benign
P02461:p.Asn1306Ser,benign
P02461:p.Leu1308Ser,benign
P02461:p.Asn1309Ser,benign
P02461:p.Arg1312Gln,benign
P02461:p.Ser1320Gly,benign
P02461:p.Val1326Ile,benign
P02461:p.Val1349Ile,benign
P02461:p.Val1352Gly,benign
P02461:p.His1353Gln,benign
P02461:p.Phe1356Tyr,benign
P02461:p.Lys1391Arg,benign
P02461:p.Ile1441Phe,benign
O60500:p.Met1Gln,benign
O60500:p.Ala2Gly,benign
O60500:p.Leu3Pro,benign
O60500:p.Gly4Arg,benign
O60500:p.Thr5Ser,benign
O60500:p.Thr6Met,benign
O60500:p.Leu7Gln,benign
O60500:p.Ala9Arg,benign
O60500:p.Ser10Lys,benign
O60500:p.Leu11Thr,benign
O60500:p.Leu12Ala,benign
O60500:p.Leu13Lys,benign
O60500:p.Thr18Val,benign
O60500:p.Trp64Ser,pathogenic
O60500:p.Leu96Val,pathogenic
O60500:p.Ala107Thr,pathogenic
O60500:p.Ala107Val,pathogenic
O60500:p.Met118Thr,benign
O60500:p.Asn159Ser,benign
O60500:p.Pro167Leu,pathogenic
O60500:p.Ile171Asn,pathogenic
O60500:p.Ile173Asn,pathogenic
O60500:p.Asn188Ile,pathogenic
O60500:p.Glu189Lys,pathogenic
O60500:p.Arg207Leu,benign
O60500:p.Leu237Pro,pathogenic
O60500:p.Arg256Trp,pathogenic
O60500:p.Cys265Arg,pathogenic
O60500:p.Gly270Cys,pathogenic
O60500:p.Thr294Ile,pathogenic
O60500:p.Arg299Cys,pathogenic
O60500:p.Pro340His,pathogenic
O60500:p.Gly347Glu,pathogenic
O60500:p.Ser350Pro,pathogenic
O60500:p.Ser366Arg,pathogenic
O60500:p.Arg367Cys,pathogenic
O60500:p.Pro368Leu,pathogenic
O60500:p.Pro368Ser,pathogenic
O60500:p.Leu376Val,pathogenic
O60500:p.Arg379Trp,pathogenic
O60500:p.Arg407Trp,pathogenic
O60500:p.Gly412Cys,pathogenic
O60500:p.Cys417Phe,pathogenic
O60500:p.Arg460Gln,pathogenic
O60500:p.Cys465Tyr,pathogenic
O60500:p.Pro519Ser,pathogenic
O60500:p.Cys528Phe,pathogenic
O60500:p.Arg558Cys,pathogenic
O60500:p.Ser569Arg,pathogenic
O60500:p.Ser572Asn,pathogenic
O60500:p.Pro575Gln,pathogenic
O60500:p.Arg586Gly,pathogenic
O60500:p.Leu587Arg,pathogenic
O60500:p.Val608Ile,pathogenic
O60500:p.Leu610Gln,pathogenic
O60500:p.Cys623Phe,pathogenic
O60500:p.Asn673Lys,pathogenic
O60500:p.Trp681Cys,pathogenic
O60500:p.Val709Gly,pathogenic
O60500:p.Ser724Cys,pathogenic
O60500:p.Arg731Leu,benign
O60500:p.Ala739Val,pathogenic
O60500:p.Ile742Thr,pathogenic
O60500:p.Arg743Cys,pathogenic
O60500:p.Asn774Ser,benign
O60500:p.Arg802Pro,pathogenic
O60500:p.Arg802Trp,pathogenic
O60500:p.Ala806Asp,pathogenic
O60500:p.Asp819Val,pathogenic
O60500:p.Val822Met,pathogenic
O60500:p.Leu830Val,benign
O60500:p.Arg831Cys,pathogenic
O60500:p.Leu832Pro,pathogenic
O60500:p.Val834Phe,pathogenic
O60500:p.Val880Ile,benign
O60500:p.Thr893Ile,benign
O60500:p.Ser910Pro,pathogenic
O60500:p.Ala912Thr,pathogenic
O60500:p.Arg976Ser,pathogenic
O60500:p.Val991Leu,benign
O60500:p.Ser1016Asn,pathogenic
O60500:p.Gly1020Val,pathogenic
O60500:p.Leu1038Gly,benign
O60500:p.His1039Asp,benign
O60500:p.His1039Lys,benign
O60500:p.Gln1040Glu,benign
O60500:p.Gln1040Gly,benign
O60500:p.Gln1040Pro,benign
O60500:p.Pro1041Gly,benign
O60500:p.Pro1041Ser,benign
O60500:p.Pro1041Thr,benign
O60500:p.Ser1042Ala,benign
O60500:p.Ser1042Leu,benign
O60500:p.Gly1043Cys,benign
O60500:p.Gly1043Gln,benign
O60500:p.Glu1044Cys,benign
O60500:p.Glu1044Arg,benign
O60500:p.Pro1045Leu,benign
O60500:p.Glu1046Gly,benign
O60500:p.Asp1047Phe,benign
O60500:p.Gln1048Thr,benign
O60500:p.Leu1049Glu,benign
O60500:p.Pro1050Gly,benign
O60500:p.Thr1051Tyr,benign
O60500:p.Glu1052Leu,benign
O60500:p.Ser1055Leu,benign
O60500:p.Asp1124His,benign
O60500:p.Gln1126Arg,benign
O60500:p.Ser1127Asn,benign
O60500:p.Arg1140Cys,pathogenic
O60500:p.Trp1201Arg,benign
O60500:p.His1204Arg,benign
O60500:p.Ile1216Met,benign
P78504:p.Met1Lys,benign
P78504:p.Met1Leu,benign
P78504:p.Met1Gln,benign
P78504:p.Arg2Glu,benign
P78504:p.Arg2Gly,benign
P78504:p.Arg2Pro,benign
P78504:p.Arg2Gln,benign
P78504:p.Arg2Ser,benign
P78504:p.Ser3Glu,benign
P78504:p.Ser3Gly,benign
P78504:p.Ser3Pro,benign
P78504:p.Ser3Arg,benign
P78504:p.Ser3Thr,benign
P78504:p.Pro4Glu,benign
P78504:p.Pro4Leu,benign
P78504:p.Pro4Gln,benign
P78504:p.Pro4Ser,benign
P78504:p.Arg5Gln,benign
P78504:p.Arg5Trp,benign
P78504:p.Thr6Ala,benign
P78504:p.Thr6Glu,benign
P78504:p.Thr6Gln,benign
P78504:p.Thr6Arg,benign
P78504:p.Arg7Phe,benign
P78504:p.Arg7Gly,benign
P78504:p.Gly8Asp,benign
P78504:p.Gly8Glu,benign
P78504:p.Gly8Arg,benign
P78504:p.Gly8Ser,benign
P78504:p.Gly8Thr,benign
P78504:p.Arg9Gly,benign
P78504:p.Arg9Lys,benign
P78504:p.Ser10Glu,benign
P78504:p.Ser10Leu,benign
P78504:p.Ser10Pro,benign
P78504:p.Ser10Gln,benign
P78504:p.Gly11Ser,benign
P78504:p.Arg12Cys,benign
P78504:p.Pro13Ala,benign
P78504:p.Pro13Glu,benign
P78504:p.Pro13Ile,benign
P78504:p.Pro13Thr,benign
P78504:p.Leu14Met,benign
P78504:p.Leu14Gln,benign
P78504:p.Ser15Gly,benign
P78504:p.Ser15Asn,benign
P78504:p.Ser15Thr,benign
P78504:p.Leu16Arg,benign
P78504:p.Leu17Ser,benign
P78504:p.Leu18Val,benign
P78504:p.Ala19Arg,benign
P78504:p.Leu20Ile,benign
P78504:p.Leu20Arg,benign
P78504:p.Leu21Asn,benign
P78504:p.Leu21Ser,benign
P78504:p.Cys22Ala,benign
P78504:p.Ala23Lys,benign
P78504:p.Ala23Pro,benign
P78504:p.Ala23Thr,benign
P78504:p.Leu24Ala,benign
P78504:p.Arg25Cys,benign
P78504:p.Ala26Leu,benign
P78504:p.Ala26Thr,benign
P78504:p.Lys27Gln,benign
P78504:p.Gly30Trp,benign
P78504:p.Ala31Asp,benign
P78504:p.Ala31Val,pathogenic
P78504:p.Ser32Ala,benign
P78504:p.Ser32Leu,benign
P78504:p.Gly33Cys,benign
P78504:p.Gly33Asp,pathogenic
P78504:p.Gly33Ser,pathogenic
P78504:p.Gly33Val,pathogenic
P78504:p.Gln34Ser,benign
P78504:p.Glu36Arg,benign
P78504:p.Leu37Ser,pathogenic
P78504:p.Leu37Val,benign
P78504:p.Leu37Trp,benign
P78504:p.Ile39Leu,benign
P78504:p.Ile39Ser,pathogenic
P78504:p.Leu40Pro,pathogenic
P78504:p.Gln43Glu,benign
P78504:p.Val45Ala,benign
P78504:p.Val45Leu,benign
P78504:p.Val45Ser,benign
P78504:p.Glu48Ser,benign
P78504:p.Leu49Cys,benign
P78504:p.Gln50Arg,benign
P78504:p.Asn53His,benign
P78504:p.Gly56Ser,benign
P78504:p.Ala58Ser,benign
P78504:p.Ala58Thr,benign
P78504:p.Ala58Val,benign
P78504:p.Asn60Ser,benign
P78504:p.Pro61Leu,benign
P78504:p.Pro61Thr,benign
P78504:p.Asp63Ala,benign
P78504:p.Cys66Ser,benign
P78504:p.Thr67Ala,benign
P78504:p.Thr67Ile,benign
P78504:p.Thr67Ser,benign
P78504:p.Arg68His,benign
P78504:p.Arg68Gln,benign
P78504:p.Asp69Asn,benign
P78504:p.Asp69Tyr,benign
P78504:p.Phe75Ser,pathogenic
P78504:p.Cys78Ser,pathogenic
P78504:p.Leu79His,pathogenic
P78504:p.Ser84Phe,benign
P78504:p.Ser84Trp,benign
P78504:p.Gly89Glu,benign
P78504:p.Cys92Arg,pathogenic
P78504:p.Cys92Tyr,pathogenic
P78504:p.Ser96Gln,benign
P78504:p.Ile102Leu,benign
P78504:p.Thr106Asn,benign
P78504:p.Thr106Ser,benign
P78504:p.Asn108Asp,benign
P78504:p.Asn108Ser,benign
P78504:p.Asn108Thr,benign
P78504:p.Leu109Phe,benign
P78504:p.Ala111Gly,benign
P78504:p.Ala111Lys,benign
P78504:p.Ala111Thr,benign
P78504:p.Ser112Gly,benign
P78504:p.Arg113Gly,benign
P78504:p.Gly114Lys,benign
P78504:p.Gly114Asn,benign
P78504:p.Gly114Arg,benign
P78504:p.Gly114Ser,benign
P78504:p.Asn115Asp,benign
P78504:p.Asn115Glu,benign
P78504:p.Asn115Ser,benign
P78504:p.Asp116Glu,benign
P78504:p.Asp116Gly,benign
P78504:p.Ile120Asn,pathogenic
P78504:p.Val121Ile,benign
P78504:p.Pro123Ser,pathogenic
P78504:p.Ala127Thr,pathogenic
P78504:p.Pro129Arg,pathogenic
P78504:p.Asp144Asn,benign
P78504:p.Val146Ala,benign
P78504:p.Val146Ile,benign
P78504:p.Val146Leu,benign
P78504:p.Val146Thr,benign
P78504:p.Gln147Lys,benign
P78504:p.Gln147Arg,benign
P78504:p.Pro148Arg,benign
P78504:p.Pro148Ser,benign
P78504:p.Asp149Glu,benign
P78504:p.Ser150Gly,benign
P78504:p.Ser150Asn,benign
P78504:p.Ile151Leu,benign
P78504:p.Ile151Met,benign
P78504:p.Ile152Thr,pathogenic
P78504:p.Glu153Gln,benign
P78504:p.Lys154Arg,benign
P78504:p.Ala155Pro,pathogenic
P78504:p.Ala155Val,benign
P78504:p.Ser156Ile,benign
P78504:p.His157Lys,benign
P78504:p.His157Tyr,benign
P78504:p.Gly159His,benign
P78504:p.Met160Leu,benign
P78504:p.Ile161Val,benign
P78504:p.Pro163Leu,pathogenic
P78504:p.Pro163Arg,pathogenic
P78504:p.Ser164Glu,benign
P78504:p.Ser164Gly,benign
P78504:p.Arg165Glu,benign
P78504:p.Gln166Glu,benign
P78504:p.Trp167Met,benign
P78504:p.Gln168Ser,benign
P78504:p.Thr169Ala,benign
P78504:p.Thr169Leu,benign
P78504:p.Thr169Met,benign
P78504:p.Leu170Val,benign
P78504:p.Lys171Gly,benign
P78504:p.Gln172Met,benign
P78504:p.Asn173Val,benign
P78504:p.Thr174Leu,benign
P78504:p.Val176Ile,benign
P78504:p.Val176Leu,benign
P78504:p.Ala177Val,benign
P78504:p.Ala177Trp,benign
P78504:p.His178Tyr,benign
P78504:p.Phe179Ile,benign
P78504:p.Tyr181Phe,benign
P78504:p.Tyr181Asn,pathogenic
P78504:p.Ile183Asn,benign
P78504:p.Arg184Cys,pathogenic
P78504:p.Arg184Gly,pathogenic
P78504:p.Arg184His,pathogenic
P78504:p.Arg184Leu,pathogenic
P78504:p.Arg184Pro,benign
P78504:p.Arg184Ser,benign
P78504:p.Val185Cys,benign
P78504:p.Val185Phe,benign
P78504:p.Thr186Asp,benign
P78504:p.Thr186Ser,benign
P78504:p.Cys187Pro,benign
P78504:p.Cys187Ser,pathogenic
P78504:p.Cys187Tyr,pathogenic
P78504:p.Asp188Arg,benign
P78504:p.Asp189Ala,benign
P78504:p.Asp189Glu,benign
P78504:p.Tyr190His,benign
P78504:p.Tyr190Asn,benign
P78504:p.Tyr191Gly,benign
P78504:p.Tyr192Phe,benign
P78504:p.Gly193Ser,benign
P78504:p.Ala211Thr,benign
P78504:p.Gln214Leu,benign
P78504:p.Cys220Phe,pathogenic
P78504:p.Met221Val,benign
P78504:p.Trp224Cys,pathogenic
P78504:p.Met225Thr,benign
P78504:p.Gly226Asp,benign
P78504:p.Pro227Ser,benign
P78504:p.Glu228Asp,benign
P78504:p.Cys229Gly,pathogenic
P78504:p.Cys229Tyr,pathogenic
P78504:p.Arg231Lys,benign
P78504:p.Arg231Asn,benign
P78504:p.Pro240Leu,benign
P78504:p.Pro240Thr,benign
P78504:p.Leu247His,benign
P78504:p.Leu247Ile,benign
P78504:p.Leu247Val,benign
P78504:p.Asp250Asn,benign
P78504:p.Arg252Gly,pathogenic
P78504:p.Gly256Ser,pathogenic
P78504:p.Gln258Arg,benign
P78504:p.Leu260Gln,benign
P78504:p.Pro269Leu,pathogenic
P78504:p.Cys271Arg,pathogenic
P78504:p.His273Arg,benign
P78504:p.Gly274Asp,pathogenic
P78504:p.Ile275Thr,benign
P78504:p.Asn277Ile,benign
P78504:p.Asn277Val,benign
P78504:p.Cys284Phe,pathogenic
P78504:p.Trp288Cys,pathogenic
P78504:p.His303Arg,benign
P78504:p.Asn308Ser,benign
P78504:p.Gly309Arg,benign
P78504:p.Thr311Ala,benign
P78504:p.Pro325Ser,benign
P78504:p.Glu326Asp,benign
P78504:p.Pro331Ala,benign
P78504:p.Pro331Leu,benign
P78504:p.Pro331Ser,benign
P78504:p.Pro331Val,benign
P78504:p.Asn332Ser,benign
P78504:p.Asn332Thr,benign
P78504:p.Ala336Val,benign
P78504:p.Arg348Gly,benign
P78504:p.Arg348Lys,benign
P78504:p.Lys352Arg,benign
P78504:p.Ser355Ala,benign
P78504:p.Ser355Leu,benign
P78504:p.Leu356Met,benign
P78504:p.Leu356Ser,benign
P78504:p.Leu356Val,benign
P78504:p.Glu359Val,benign
P78504:p.Glu361Ala,benign
P78504:p.Glu361Gly,benign
P78504:p.Ser363Ala,benign
P78504:p.Pro364Leu,benign
P78504:p.Thr367Ala,benign
P78504:p.Gly368Asp,benign
P78504:p.Asp376Asn,benign
P78504:p.Ser379Thr,benign
P78504:p.Ser384Ala,benign
P78504:p.Gly386Arg,pathogenic
P78504:p.Gln390Glu,benign
P78504:p.Gln390Leu,benign
P78504:p.Leu392Met,benign
P78504:p.Lys397Gln,benign
P78504:p.Val399Glu,benign
P78504:p.Pro401Ser,benign
P78504:p.Thr405Ser,benign
P78504:p.Leu411Ile,benign
P78504:p.Ala418Asp,benign
P78504:p.Ala418Thr,benign
P78504:p.Val422Leu,benign
P78504:p.Lys425Arg,benign
P78504:p.Ser426Phe,benign
P78504:p.Ser426Gly,benign
P78504:p.Ala432Gly,benign
P78504:p.Ser433Gly,benign
P78504:p.Cys436Trp,pathogenic
P78504:p.Asp437Asn,benign
P78504:p.Cys438Phe,pathogenic
P78504:p.Met443Ser,benign
P78504:p.Met443Thr,benign
P78504:p.Gln445Pro,benign
P78504:p.Asp448Glu,benign
P78504:p.Ile449Ser,benign
P78504:p.Leu455Arg,benign
P78504:p.Leu455Val,benign
P78504:p.Asp461Glu,benign
P78504:p.Asp461Gly,benign
P78504:p.Ser463Ala,benign
P78504:p.Ser463Thr,benign
P78504:p.Arg465Gln,benign
P78504:p.Ile474Val,benign
P78504:p.Asp482His,benign
P78504:p.Asp482Asn,benign
P78504:p.Asp482Thr,benign
P78504:p.Arg486Lys,benign
P78504:p.Arg486Thr,benign
P78504:p.Asp487Glu,benign
P78504:p.Ile488Val,benign
P78504:p.Asp489Asn,benign
P78504:p.Ala492Ser,benign
P78504:p.Ala492Val,benign
P78504:p.Asn494Thr,benign
P78504:p.Asn494Tyr,benign
P78504:p.Asn504Asp,benign
P78504:p.Asn504Ser,pathogenic
P78504:p.Ile506Val,benign
P78504:p.Arg508Lys,benign
P78504:p.Asn520Ser,benign
P78504:p.Leu524Ser,benign
P78504:p.Ile526Val,benign
P78504:p.Asn536His,benign
P78504:p.Asn536Ser,benign
P78504:p.Gln539His,benign
P78504:p.Gln539Leu,benign
P78504:p.Tyr541Phe,benign
P78504:p.Pro552Thr,benign
P78504:p.Glu553Gln,benign
P78504:p.His562Arg,benign
P78504:p.Thr570Ala,benign
P78504:p.Pro571Thr,benign
P78504:p.Glu573Gln,benign
P78504:p.Gln608Glu,benign
P78504:p.Ser609Ala,benign
P78504:p.Thr622Met,benign
P78504:p.Ser635Gly,benign
P78504:p.Asn636Ser,benign
P78504:p.Arg639Lys,benign
P78504:p.Arg639Thr,benign
P78504:p.Val648Ile,benign
P78504:p.Lys652Ala,benign
P78504:p.Asp657Gly,benign
P78504:p.Ala662Pro,benign
P78504:p.Ala662Thr,benign
P78504:p.Tyr663Cys,benign
P78504:p.Tyr663Phe,benign
P78504:p.Tyr663His,benign
P78504:p.Glu665Asp,benign
P78504:p.Thr666Ala,benign
P78504:p.Thr666Ile,benign
P78504:p.Thr666Asn,benign
P78504:p.Thr666Ser,benign
P78504:p.Ser672Arg,benign
P78504:p.Gln673His,benign
P78504:p.Asn674Ser,benign
P78504:p.His677Tyr,benign
P78504:p.Asn678Tyr,benign
P78504:p.Thr681Ser,benign
P78504:p.Asn687Ser,benign
P78504:p.Asp692Asn,benign
P78504:p.Cys693Tyr,pathogenic
P78504:p.His703Arg,benign
P78504:p.His703Tyr,benign
P78504:p.Cys714Tyr,pathogenic
P78504:p.Tyr721Ser,benign
P78504:p.Gly724Val,benign
P78504:p.Ala726Thr,benign
P78504:p.Met730Ile,benign
P78504:p.Cys731Ser,pathogenic
P78504:p.Thr738Ala,benign
P78504:p.Cys740Arg,pathogenic
P78504:p.Asn751Ser,benign
P78504:p.Cys753Arg,pathogenic
P78504:p.Gly757Ala,benign
P78504:p.Val761Ser,benign
P78504:p.Asn762Thr,benign
P78504:p.Glu764Asp,benign
P78504:p.Ser765Thr,benign
P78504:p.Thr767Ser,benign
P78504:p.Pro777Leu,benign
P78504:p.Ile778Ser,benign
P78504:p.Ile778Thr,benign
P78504:p.Ile778Val,benign
P78504:p.Cys779Ala,benign
P78504:p.Ala780Leu,benign
P78504:p.Ala780Thr,benign
P78504:p.Gln781Arg,benign
P78504:p.Asn782Asp,benign
P78504:p.Asp801Glu,benign
P78504:p.Pro810Ala,benign
P78504:p.Asn820Ser,benign
P78504:p.Ile821Lys,benign
P78504:p.Asn822Asp,benign
P78504:p.Glu823Trp,benign
P78504:p.Cys824Ala,benign
P78504:p.Gln825Val,benign
P78504:p.Cys829Leu,benign
P78504:p.Ala830Leu,benign
P78504:p.Phe831Ala,benign
P78504:p.Phe831Leu,benign
P78504:p.Phe831Tyr,benign
P78504:p.Gly832Val,benign
P78504:p.Ala833Asn,benign
P78504:p.Ala833Ser,benign
P78504:p.Thr834Cys,benign
P78504:p.Cys835Thr,benign
P78504:p.Asp837Arg,benign
P78504:p.Ile839Arg,benign
P78504:p.Gly841Gln,benign
P78504:p.Tyr842Ile,benign
P78504:p.Arg843Lys,benign
P78504:p.Arg843Gln,benign
P78504:p.Cys844Asn,benign
P78504:p.Val845Cys,benign
P78504:p.Val845Ile,benign
P78504:p.Val845Leu,benign
P78504:p.Pro847Leu,benign
P78504:p.Pro848Leu,benign
P78504:p.Gly849Lys,benign
P78504:p.His850Leu,benign
P78504:p.His850Gln,benign
P78504:p.His850Trp,benign
P78504:p.His850Tyr,benign
P78504:p.Ser851Phe,benign
P78504:p.Ser851Thr,benign
P78504:p.Gly852Ser,benign
P78504:p.Ala853Thr,benign
P78504:p.Ala853Val,benign
P78504:p.Lys854Met,benign
P78504:p.Lys854Gln,benign
P78504:p.Lys854Val,benign
P78504:p.Cys855Arg,benign
P78504:p.Gln856His,benign
P78504:p.Gln856Lys,benign
P78504:p.Gln856Arg,benign
P78504:p.Gln856Thr,benign
P78504:p.Glu857Gln,benign
P78504:p.Val858Cys,benign
P78504:p.Val858Ile,benign
P78504:p.Ser859Ala,benign
P78504:p.Gly860Arg,benign
P78504:p.Gly860Ser,benign
P78504:p.Arg861Lys,benign
P78504:p.Arg861Leu,benign
P78504:p.Pro862Gln,benign
P78504:p.Pro862Ser,benign
P78504:p.Cys863Leu,benign
P78504:p.Ile864Pro,benign
P78504:p.Ile864Val,benign
P78504:p.Thr865Met,benign
P78504:p.Met866Ala,benign
P78504:p.Met866Ile,benign
P78504:p.Met866Arg,benign
P78504:p.Met866Val,benign
P78504:p.Gly867Thr,benign
P78504:p.Ser868Gly,benign
P78504:p.Ser868Arg,benign
P78504:p.Ser868Val,benign
P78504:p.Val869Leu,benign
P78504:p.Val869Met,benign
P78504:p.Ile870Leu,benign
P78504:p.Ile870Arg,benign
P78504:p.Pro871Glu,benign
P78504:p.Pro871Leu,benign
P78504:p.Pro871Arg,benign
P78504:p.Asp872Gly,benign
P78504:p.Gly873Thr,benign
P78504:p.Ala874His,benign
P78504:p.Ala874Ile,benign
P78504:p.Ala874Thr,benign
P78504:p.Lys875Arg,benign
P78504:p.Lys875Thr,benign
P78504:p.Asp877Ala,benign
P78504:p.Asp878Ala,benign
P78504:p.Asp878Glu,benign
P78504:p.Asp879Gly,benign
P78504:p.Cys880Phe,benign
P78504:p.Asn881Ser,benign
P78504:p.Thr882Ala,benign
P78504:p.Cys883Ser,benign
P78504:p.Gln884Gly,benign
P78504:p.Gln884Arg,benign
P78504:p.Leu886Phe,benign
P78504:p.Leu886Gln,benign
P78504:p.Leu886Val,benign
P78504:p.Asn887Asp,benign
P78504:p.Asn887Ser,benign
P78504:p.Asn887Trp,benign
P78504:p.Arg889Ile,benign
P78504:p.Arg889Gln,pathogenic
P78504:p.Ile890Phe,benign
P78504:p.Ile890Val,benign
P78504:p.Ala891Leu,benign
P78504:p.Ala891Ser,benign
P78504:p.Cys892Ser,benign
P78504:p.Lys894Pro,benign
P78504:p.Val895Met,benign
P78504:p.Trp896Glu,benign
P78504:p.Cys897Ala,benign
P78504:p.Pro899Gln,benign
P78504:p.Pro901Leu,benign
P78504:p.Cys902Ser,pathogenic
P78504:p.Leu903Ile,benign
P78504:p.Leu903Gln,benign
P78504:p.Leu903Arg,benign
P78504:p.Leu903Ser,benign
P78504:p.Leu904His,benign
P78504:p.Leu904Ile,benign
P78504:p.Leu904Met,benign
P78504:p.Leu904Val,benign
P78504:p.His905Gln,benign
P78504:p.His905Arg,benign
P78504:p.Lys906Asp,benign
P78504:p.Lys906Ile,benign
P78504:p.Lys906Arg,benign
P78504:p.Gly907Cys,benign
P78504:p.Gly907Asp,benign
P78504:p.Gly907Ser,benign
P78504:p.His908Gln,benign
P78504:p.Ser909Gly,benign
P78504:p.Ser909Asn,benign
P78504:p.Glu910Asp,benign
P78504:p.Cys911Tyr,pathogenic
P78504:p.Pro912Tyr,benign
P78504:p.Ser913Gly,benign
P78504:p.Ser913Ile,benign
P78504:p.Ser913Asn,benign
P78504:p.Ser913Arg,pathogenic
P78504:p.Ser913Thr,benign
P78504:p.Gln915His,benign
P78504:p.Ser916Asn,benign
P78504:p.Ser916Thr,benign
P78504:p.Cys917Arg,benign
P78504:p.Cys917Tyr,benign
P78504:p.Ile918Leu,benign
P78504:p.Ile918Thr,benign
P78504:p.Ile918Val,benign
P78504:p.Ile918Tyr,benign
P78504:p.Ile920Arg,benign
P78504:p.Ile920Val,benign
P78504:p.Asp922Glu,benign
P78504:p.Asp923Ala,benign
P78504:p.Asp923Gln,benign
P78504:p.Asp923Thr,benign
P78504:p.His928Arg,benign
P78504:p.Val933Ala,benign
P78504:p.Val933Ile,benign
P78504:p.Arg937His,benign
P78504:p.Arg937Gln,pathogenic
P78504:p.Ser939Ala,benign
P78504:p.Ser940Gly,benign
P78504:p.Ser940Asn,benign
P78504:p.Leu941Phe,benign
P78504:p.Leu941Val,benign
P78504:p.Lys947Arg,benign
P78504:p.Thr949Ala,benign
P78504:p.Thr949Glu,benign
P78504:p.Thr949Ser,benign
P78504:p.Ser952Pro,benign
P78504:p.Gln955His,benign
P78504:p.Asp956Glu,benign
P78504:p.Asp956Asn,benign
P78504:p.Asn957Ser,benign
P78504:p.Ile961Val,benign
P78504:p.Ile979Val,benign
P78504:p.Ser981Asn,benign
P78504:p.Glu982Ala,benign
P78504:p.Glu982Gln,benign
P78504:p.Ser993Thr,benign
P78504:p.Ile998Leu,benign
P78504:p.Ile1000Val,benign
P78504:p.Pro1006Ala,benign
P78504:p.Pro1006Leu,benign
P78504:p.Ser1007Leu,benign
P78504:p.Ser1007Met,benign
P78504:p.Ser1007Thr,benign
P78504:p.Asn1009Ser,benign
P78504:p.Ile1012Met,benign
P78504:p.Ala1018Thr,benign
P78504:p.Ile1021Met,benign
P78504:p.Ile1021Thr,benign
P78504:p.Asp1024Glu,benign
P78504:p.Ile1028Val,benign
P78504:p.Glu1030Asp,benign
P78504:p.Asp1033Glu,benign
P78504:p.Lys1034Arg,benign
P78504:p.Ile1035Met,benign
P78504:p.Asp1037Glu,benign
P78504:p.Asp1037Asn,benign
P78504:p.Asp1043Glu,benign
P78504:p.Gly1044Ala,benign
P78504:p.Ser1046Asn,benign
P78504:p.Leu1048Phe,benign
P78504:p.Ile1049Phe,benign
P78504:p.Ala1053Ser,benign
P78504:p.Arg1060His,benign
P78504:p.Arg1060Gln,benign
P78504:p.Leu1062Met,benign
P78504:p.Leu1062Pro,benign
P78504:p.Leu1062Gln,benign
P78504:p.Leu1062Val,benign
P78504:p.Asn1064Ser,benign
P78504:p.Asn1064Thr,benign
P78504:p.Arg1065Lys,benign
P78504:p.Arg1065Thr,benign
P78504:p.Val1076Ile,benign
P78504:p.Ile1082Leu,benign
P78504:p.Ile1082Val,benign
P78504:p.Val1086Ala,benign
P78504:p.Phe1089Leu,benign
P78504:p.Leu1093Met,benign
P78504:p.Leu1093Val,benign
P78504:p.Lys1095Arg,benign
P78504:p.Pro1099Ser,benign
P78504:p.Gly1100Asn,benign
P78504:p.Gly1100Ser,benign
P78504:p.His1102Pro,benign
P78504:p.Thr1103Ala,benign
P78504:p.Thr1103Pro,benign
P78504:p.His1104Leu,benign
P78504:p.His1104Arg,benign
P78504:p.Ser1105Ala,benign
P78504:p.Ser1107Pro,benign
P78504:p.Asp1109Glu,benign
P78504:p.Asn1110Ser,benign
P78504:p.Asn1110Thr,benign
P78504:p.His1129Leu,benign
P78504:p.Ala1131Thr,benign
P78504:p.Thr1133Ala,benign
P78504:p.Pro1135Ser,benign
P78504:p.Ile1136Val,benign
P78504:p.Asn1141Ser,benign
P78504:p.Met1161Thr,benign
P78504:p.Met1161Val,benign
P78504:p.Lys1163Arg,benign
P78504:p.Ala1168Thr,benign
P78504:p.Ala1168Val,benign
P78504:p.Lys1172Arg,benign
P78504:p.Gln1173Arg,benign
P78504:p.Pro1174Ala,benign
P78504:p.Ala1175Thr,benign
P78504:p.Ala1175Val,benign
P78504:p.Glu1182Asp,benign
P78504:p.Glu1183Asp,benign
P78504:p.Pro1185Ala,benign
P78504:p.Pro1185Ser,benign
P78504:p.Pro1185Val,benign
P78504:p.Pro1186Ala,benign
P78504:p.Asn1187His,benign
P78504:p.Asn1187Gln,benign
P78504:p.Asn1187Ser,benign
P78504:p.Gly1188Arg,benign
P78504:p.Gly1188Ser,benign
P78504:p.Thr1189Met,benign
P78504:p.Pro1190Leu,benign
P78504:p.Pro1190Ser,benign
P78504:p.Thr1191Ala,benign
P78504:p.Thr1191Asn,benign
P78504:p.Thr1191Val,benign
P78504:p.Lys1192Arg,benign
P78504:p.Asn1212Ser,benign
P21817:p.Met1Asp,benign
P21817:p.Asp3Gly,benign
P21817:p.Ala4Gly,benign
P21817:p.Glu9Asp,benign
P21817:p.Leu13Arg,pathogenic
P21817:p.Leu13Val,pathogenic
P21817:p.Val20Ile,benign
P21817:p.Ser24Asn,benign
P21817:p.Cys35Arg,pathogenic
P21817:p.Arg44Cys,pathogenic
P21817:p.Val67Ile,benign
P21817:p.Arg109Trp,pathogenic
P21817:p.Ala111Thr,benign
P21817:p.Arg114Gly,benign
P21817:p.Thr141Ile,benign
P21817:p.Met149Thr,benign
P21817:p.Glu160Gly,pathogenic
P21817:p.Arg163Cys,pathogenic
P21817:p.Arg163Leu,pathogenic
P21817:p.Gly165Arg,pathogenic
P21817:p.Asp166Asn,pathogenic
P21817:p.Ile168Leu,benign
P21817:p.Arg177Cys,pathogenic
P21817:p.Tyr178Cys,pathogenic
P21817:p.Arg207Cys,benign
P21817:p.Arg207Gly,benign
P21817:p.Phe212Tyr,benign
P21817:p.Gly215Glu,pathogenic
P21817:p.Met226Lys,pathogenic
P21817:p.Asp227Val,pathogenic
P21817:p.Leu230Met,benign
P21817:p.Pro234Ala,benign
P21817:p.Ala235Ser,benign
P21817:p.Asp238Glu,benign
P21817:p.Tyr245Phe,benign
P21817:p.Tyr245His,benign
P21817:p.Ala250Pro,benign
P21817:p.Ala250Ser,benign
P21817:p.Ser267Arg,benign
P21817:p.Val281Ile,benign
P21817:p.Gln288Arg,benign
P21817:p.Ala291Gly,benign
P21817:p.Thr293Ile,benign
P21817:p.Thr293Val,benign
P21817:p.Val299Met,benign
P21817:p.Ile317Val,benign
P21817:p.Val324Met,benign
P21817:p.Val324Thr,benign
P21817:p.Arg328Trp,pathogenic
P21817:p.Glu331Asp,benign
P21817:p.Gly341Arg,pathogenic
P21817:p.Val350Met,benign
P21817:p.Arg367Leu,pathogenic
P21817:p.Met376Ile,benign
P21817:p.His382Asn,pathogenic
P21817:p.Ala386Thr,benign
P21817:p.Gln394His,benign
P21817:p.Arg401Cys,pathogenic
P21817:p.Arg401His,pathogenic
P21817:p.Arg401Ser,pathogenic
P21817:p.Met402Thr,pathogenic
P21817:p.Ile403Met,pathogenic
P21817:p.His404Tyr,benign
P21817:p.Thr406Asn,benign
P21817:p.Asn407Ala,benign
P21817:p.Gly408Ala,benign
P21817:p.Gln412His,benign
P21817:p.Ser416Gly,benign
P21817:p.Pro429Ala,benign
P21817:p.Pro429Ser,benign
P21817:p.Thr433Ser,benign
P21817:p.Ile437Leu,benign
P21817:p.Gly439Ala,benign
P21817:p.Ile449Gly,benign
P21817:p.Ile449Val,benign
P21817:p.Asp457Glu,benign
P21817:p.Ser465Thr,benign
P21817:p.Ser484Thr,benign
P21817:p.Met485Leu,benign
P21817:p.Phe505Tyr,benign
P21817:p.Tyr522Ser,pathogenic
P21817:p.Leu524Ile,benign
P21817:p.Arg530His,pathogenic
P21817:p.Arg533Cys,pathogenic
P21817:p.Arg533His,pathogenic
P21817:p.Ser534Ala,benign
P21817:p.Ser534Thr,benign
P21817:p.Thr541Asn,benign
P21817:p.Asp544Tyr,pathogenic
P21817:p.Leu546Val,benign
P21817:p.Arg552Trp,pathogenic
P21817:p.Arg614Cys,pathogenic
P21817:p.Arg614Leu,pathogenic
P21817:p.Gly654Ser,benign
P21817:p.Thr655Ser,benign
P21817:p.Ser659Gly,benign
P21817:p.Ser659Leu,benign
P21817:p.Ser659Asn,benign
P21817:p.Thr671Ala,benign
P21817:p.Thr671Val,benign
P21817:p.Ala678Pro,benign
P21817:p.Thr688Ser,benign
P21817:p.Thr692Ser,benign
P21817:p.Ala697Gly,benign
P21817:p.Ala726Pro,benign
P21817:p.Pro728Leu,benign
P21817:p.Thr730Asn,benign
P21817:p.Ser731Tyr,benign
P21817:p.Ile743Val,benign
P21817:p.Ser769Ala,benign
P21817:p.Asp773Asn,benign
P21817:p.Val786Ile,benign
P21817:p.Lys787Arg,benign
P21817:p.His821Arg,benign
P21817:p.Glu823Gln,benign
P21817:p.Pro833Ser,benign
P21817:p.Thr848Leu,benign
P21817:p.Val858Ile,benign
P21817:p.Arg868Gly,benign
P21817:p.Glu871Gly,benign
P21817:p.Asp908Asn,benign
P21817:p.Lys950Arg,benign
P21817:p.Thr981Met,benign
P21817:p.Gly1001Ala,benign
P21817:p.Arg1043Cys,pathogenic
P21817:p.Leu1046Ile,benign
P21817:p.Asp1056His,pathogenic
P21817:p.Asp1056Asn,pathogenic
P21817:p.Glu1058Lys,pathogenic
P21817:p.Glu1063Asp,benign
P21817:p.Asn1064Ser,benign
P21817:p.Cys1068Gly,benign
P21817:p.Cys1068Trp,benign
P21817:p.Val1071Ala,benign
P21817:p.Thr1081Ala,benign
P21817:p.Thr1081Val,benign
P21817:p.Tyr1088Cys,pathogenic
P21817:p.Glu1107Asp,benign
P21817:p.Glu1118Asp,benign
P21817:p.Ala1120Ser,benign
P21817:p.Arg1127His,pathogenic
P21817:p.Pro1137Leu,benign
P21817:p.Pro1144Ser,benign
P21817:p.Glu1180Asp,benign
P21817:p.Ile1183Val,benign
P21817:p.Gly1240Ser,benign
P21817:p.Pro1246Ala,benign
P21817:p.Leu1249Pro,benign
P21817:p.Glu1250Asp,benign
P21817:p.Ser1257Ala,benign
P21817:p.Ser1257Thr,benign
P21817:p.Val1259Met,benign
P21817:p.Thr1272Ala,benign
P21817:p.Thr1272Ser,benign
P21817:p.Leu1286Ile,benign
P21817:p.His1297Tyr,benign
P21817:p.Pro1311Ser,benign
P21817:p.Pro1329Thr,benign
P21817:p.Gly1340His,benign
P21817:p.Gly1340Arg,benign
P21817:p.Trp1341Arg,benign
P21817:p.Ser1342Ala,benign
P21817:p.Ser1342Gly,benign
P21817:p.Ala1344Thr,benign
P21817:p.Glu1345Asp,benign
P21817:p.Asn1346Gly,benign
P21817:p.Gly1347Asn,benign
P21817:p.Lys1348Arg,benign
P21817:p.Glu1349Asp,benign
P21817:p.Thr1351Asn,benign
P21817:p.Ala1352Gly,pathogenic
P21817:p.Ala1356Pro,benign
P21817:p.Ala1356Thr,benign
P21817:p.Ala1356Val,benign
P21817:p.Pro1357Ala,benign
P21817:p.Pro1357Leu,benign
P21817:p.Gly1359Ser,benign
P21817:p.Thr1360Asn,benign
P21817:p.Thr1360Pro,benign
P21817:p.Pro1361Ala,benign
P21817:p.Pro1361Ser,benign
P21817:p.Gln1362Pro,benign
P21817:p.Ala1363Pro,benign
P21817:p.Gly1365Ala,benign
P21817:p.Gly1365Arg,benign
P21817:p.Gly1365Val,benign
P21817:p.Glu1366Gly,benign
P21817:p.Ala1367Val,benign
P21817:p.Pro1369Ser,benign
P21817:p.Ala1370Ile,benign
P21817:p.Ala1370Pro,benign
P21817:p.Ala1370Val,benign
P21817:p.Ala1372Val,benign
P21817:p.Lys1393Arg,pathogenic
P21817:p.Val1395Ala,benign
P21817:p.Ala1403Ser,benign
P21817:p.Thr1406Ala,benign
P21817:p.His1412Arg,benign
P21817:p.Asp1413Glu,benign
P21817:p.Ala1417Thr,benign
P21817:p.Asn1419Asp,benign
P21817:p.Glu1424Asp,benign
P21817:p.Val1436Met,benign
P21817:p.Ala1449Val,benign
P21817:p.Ser1462Asn,benign
P21817:p.Ser1466Thr,benign
P21817:p.Lys1467Arg,pathogenic
P21817:p.Val1470Ala,benign
P21817:p.Gln1479His,benign
P21817:p.Val1482Ile,benign
P21817:p.Pro1502Ser,benign
P21817:p.Gln1504His,benign
P21817:p.Thr1511Met,benign
P21817:p.Thr1511Ser,benign
P21817:p.Val1551Ala,benign
P21817:p.His1557Asn,benign
P21817:p.Ile1561Val,benign
P21817:p.Ile1571Val,pathogenic
P21817:p.Gln1580Leu,benign
P21817:p.Gln1580Met,benign
P21817:p.Arg1583Cys,benign
P21817:p.Pro1586Ser,benign
P21817:p.Ala1587Thr,benign
P21817:p.Met1596Val,benign
P21817:p.Val1602Ile,benign
P21817:p.His1610Arg,benign
P21817:p.Gln1613Arg,benign
P21817:p.Glu1615Asp,benign
P21817:p.Glu1621Asp,benign
P21817:p.Gln1630Arg,benign
P21817:p.Thr1634Met,benign
P21817:p.Ile1640Val,benign
P21817:p.Asp1657Gln,benign
P21817:p.Arg1660Gln,benign
P21817:p.Arg1667Ser,benign
P21817:p.Ala1671Ser,benign
P21817:p.His1701Arg,benign
P21817:p.Gly1704Ser,pathogenic
P21817:p.Ile1715Leu,benign
P21817:p.Pro1739Glu,benign
P21817:p.Pro1739Ser,benign
P21817:p.Ala1743Thr,benign
P21817:p.Pro1749Ser,benign
P21817:p.Gly1750Cys,benign
P21817:p.Arg1751His,benign
P21817:p.Arg1751Lys,benign
P21817:p.Ser1752Lys,benign
P21817:p.Ser1752Arg,benign
P21817:p.Thr1753Ala,benign
P21817:p.Thr1753Ser,benign
P21817:p.Glu1754Asp,benign
P21817:p.Asn1755Asp,benign
P21817:p.His1757Ala,benign
P21817:p.His1757Pro,benign
P21817:p.His1757Ser,benign
P21817:p.Pro1758Cys,benign
P21817:p.Pro1758Arg,benign
P21817:p.Arg1759His,benign
P21817:p.His1760Tyr,benign
P21817:p.Val1767Ile,benign
P21817:p.Thr1768Ser,benign
P21817:p.Pro1779Ala,benign
P21817:p.Ala1784Met,benign
P21817:p.Ala1784Val,benign
P21817:p.Pro1787Leu,pathogenic
P21817:p.Pro1787Gln,benign
P21817:p.Ala1788Leu,benign
P21817:p.Ala1788Val,benign
P21817:p.Ala1789Ser,benign
P21817:p.Ala1789Val,benign
P21817:p.Ala1791Val,benign
P21817:p.Ala1792Thr,benign
P21817:p.Pro1795Arg,benign
P21817:p.Ala1796Val,benign
P21817:p.Ala1801Ser,benign
P21817:p.Asp1821Gly,benign
P21817:p.His1825Gln,benign
P21817:p.Ile1853Val,benign
P21817:p.Gly1855Ala,benign
P21817:p.Gly1855Ser,benign
P21817:p.Asp1856Asn,benign
P21817:p.Met1865Leu,benign
P21817:p.Thr1872Lys,benign
P21817:p.Thr1872Arg,benign
P21817:p.Glu1877Val,benign
P21817:p.Glu1878Asp,benign
P21817:p.Asp1879Glu,benign
P21817:p.Glu1881Gly,benign
P21817:p.Glu1882Gly,benign
P21817:p.Glu1883Asp,benign
P21817:p.Glu1883Gly,benign
P21817:p.Gly1884Glu,benign
P21817:p.Glu1886Asp,benign
P21817:p.Glu1887Asp,benign
P21817:p.Glu1887Gly,benign
P21817:p.Asp1888Glu,benign
P21817:p.Glu1889Asp,benign
P21817:p.Glu1890Lys,benign
P21817:p.Glu1891Lys,benign
P21817:p.Lys1892Ala,benign
P21817:p.Lys1892Glu,benign
P21817:p.Glu1894Ala,benign
P21817:p.Thr1899Glu,benign
P21817:p.Thr1899Gly,benign
P21817:p.Ala1900Glu,benign
P21817:p.Gln1901His,benign
P21817:p.Gln1901Arg,benign
P21817:p.Glu1906Asp,benign
P21817:p.Lys1908Glu,benign
P21817:p.Glu1909Ala,benign
P21817:p.Glu1910Asp,benign
P21817:p.Glu1911Ala,benign
P21817:p.Glu1911Asp,benign
P21817:p.Ala1913Asp,benign
P21817:p.Ala1913Glu,benign
P21817:p.Ala1913Met,benign
P21817:p.Ala1913Thr,benign
P21817:p.Ala1914Val,benign
P21817:p.Glu1915Ala,benign
P21817:p.Glu1915Val,benign
P21817:p.Gly1916Glu,benign
P21817:p.Lys1918Glu,benign
P21817:p.Glu1919Lys,benign
P21817:p.Gly1921Asp,benign
P21817:p.Gly1921Glu,benign
P21817:p.Gly1921Tyr,benign
P21817:p.Leu1922Asp,benign
P21817:p.Leu1922Glu,benign
P21817:p.His1941Asn,benign
P21817:p.Glu1950Asp,benign
P21817:p.Arg1964Cys,benign
P21817:p.Lys1968Arg,benign
P21817:p.Leu1969Met,benign
P21817:p.Ala1971Glu,benign
P21817:p.Ala1971Gly,benign
P21817:p.Ala1971Ser,benign
P21817:p.Ser1975Asp,benign
P21817:p.Ser1975Gly,benign
P21817:p.Gly1978Ala,benign
P21817:p.Gly1978His,benign
P21817:p.Leu1979Ile,benign
P21817:p.Ile1981Met,benign
P21817:p.Ser1985Thr,benign
P21817:p.Thr1987Ser,benign
P21817:p.Gln2011His,benign
P21817:p.Lys2013Gln,pathogenic
P21817:p.Asp2014Asn,benign
P21817:p.Asp2014Thr,benign
P21817:p.Gly2015Ala,benign
P21817:p.Gly2015Pro,benign
P21817:p.Gly2015Ser,benign
P21817:p.Thr2016Ala,benign
P21817:p.Thr2016Glu,benign
P21817:p.Thr2016Ser,benign
P21817:p.Asp2017Asn,benign
P21817:p.Asp2020Glu,benign
P21817:p.Pro2024Ser,benign
P21817:p.Glu2025Asp,benign
P21817:p.Glu2026Asp,benign
P21817:p.Ile2027Leu,benign
P21817:p.Ile2027Val,benign
P21817:p.Arg2028Gln,benign
P21817:p.Asp2030Glu,benign
P21817:p.Leu2032Gln,benign
P21817:p.Leu2032Val,benign
P21817:p.Asp2033Glu,benign
P21817:p.Asp2033Asn,benign
P21817:p.His2035Leu,pathogenic
P21817:p.Gln2036Arg,benign
P21817:p.Ala2040Thr,benign
P21817:p.Asp2047Glu,benign
P21817:p.Thr2057Ala,benign
P21817:p.Thr2057Ser,benign
P21817:p.Gly2060Cys,pathogenic
P21817:p.Arg2071Lys,benign
P21817:p.Lys2076Thr,benign
P21817:p.Glu2078Gly,benign
P21817:p.Glu2078Lys,benign
P21817:p.Lys2079Asn,benign
P21817:p.Lys2079Pro,benign
P21817:p.Lys2079Ser,benign
P21817:p.Pro2080Glu,benign
P21817:p.Glu2083Pro,benign
P21817:p.Arg2084Ala,benign
P21817:p.Arg2084Leu,benign
P21817:p.Arg2084Pro,benign
P21817:p.Ser2085Ala,benign
P21817:p.Ser2085Pro,benign
P21817:p.Ala2086Glu,benign
P21817:p.Glu2088His,benign
P21817:p.Glu2088Ser,benign
P21817:p.Ser2089Lys,benign
P21817:p.Ser2089Asn,benign
P21817:p.Ser2089Pro,benign
P21817:p.Ser2089Arg,benign
P21817:p.Lys2090Ala,benign
P21817:p.Pro2091Gln,benign
P21817:p.Arg2092Gln,benign
P21817:p.Met2101Thr,benign
P21817:p.Phe2110Tyr,benign
P21817:p.Val2117Leu,pathogenic
P21817:p.Asp2129Glu,pathogenic
P21817:p.Pro2146Val,benign
P21817:p.Ser2147Leu,benign
P21817:p.Val2149Met,benign
P21817:p.Arg2163Cys,pathogenic
P21817:p.Arg2163His,pathogenic
P21817:p.Arg2163Pro,pathogenic
P21817:p.Val2168Met,pathogenic
P21817:p.His2204Gln,pathogenic
P21817:p.Thr2206Met,pathogenic
P21817:p.Thr2206Arg,pathogenic
P21817:p.Glu2209Gln,benign
P21817:p.Val2214Ile,pathogenic
P21817:p.Ser2220Thr,benign
P21817:p.Gly2262Ser,benign
P21817:p.Val2280Ile,pathogenic
P21817:p.Pro2311Ser,benign
P21817:p.Val2314Leu,benign
P21817:p.Cys2326Gly,benign
P21817:p.Arg2336His,pathogenic
P21817:p.Asn2342Ser,pathogenic
P21817:p.Val2346Met,pathogenic
P21817:p.Glu2348Gly,pathogenic
P21817:p.Ala2350Thr,pathogenic
P21817:p.Arg2355Cys,pathogenic
P21817:p.Ala2367Thr,pathogenic
P21817:p.Ala2379Thr,benign
P21817:p.Ile2397Val,benign
P21817:p.Asp2400Gly,pathogenic
P21817:p.Glu2404Lys,pathogenic
P21817:p.Pro2410Ala,benign
P21817:p.Pro2411His,benign
P21817:p.Ala2421Pro,pathogenic
P21817:p.Met2423Lys,pathogenic
P21817:p.Ala2428Thr,pathogenic
P21817:p.Asp2431Asn,pathogenic
P21817:p.Gly2434Arg,pathogenic
P21817:p.Arg2435His,pathogenic
P21817:p.Arg2435Leu,pathogenic
P21817:p.Ala2437Val,pathogenic
P21817:p.Met2440Thr,benign
P21817:p.Gly2446Cys,benign
P21817:p.Arg2452Trp,pathogenic
P21817:p.Arg2454Cys,pathogenic
P21817:p.Arg2454His,pathogenic
P21817:p.Arg2458Cys,pathogenic
P21817:p.Arg2458His,pathogenic
P21817:p.Glu2464Asp,benign
P21817:p.Ile2476Met,benign
P21817:p.Val2486Ile,benign
P21817:p.Ala2500Gly,benign
P21817:p.Arg2508Gly,pathogenic
P21817:p.Val2586Ile,benign
P21817:p.Arg2593Gly,pathogenic
P21817:p.Asp2605Glu,benign
P21817:p.Ser2609Ala,benign
P21817:p.Val2627Met,pathogenic
P21817:p.Glu2635Ala,benign
P21817:p.Arg2676Trp,pathogenic
P21817:p.Pro2693Ala,benign
P21817:p.Pro2693Gln,benign
P21817:p.Met2698Ile,benign
P21817:p.Ala2723Thr,benign
P21817:p.Asp2730Gly,pathogenic
P21817:p.Asp2769Asn,benign
P21817:p.Asn2774Ser,benign
P21817:p.Ile2781Val,benign
P21817:p.Thr2787Ser,pathogenic
P21817:p.Ile2823Val,benign
P21817:p.Ser2845Thr,benign
P21817:p.Pro2851Ala,benign
P21817:p.Ala2864Gly,benign
P21817:p.Ala2864Val,benign
P21817:p.Glu2880Lys,pathogenic
P21817:p.Thr2901Ser,benign
P21817:p.Leu2927Met,benign
P21817:p.Ser2948Thr,benign
P21817:p.Thr3120Pro,benign
P21817:p.Lys3179Arg,benign
P21817:p.Thr3181Ala,benign
P21817:p.Thr3181Ile,benign
P21817:p.Thr3181Pro,benign
P21817:p.Gln3209Glu,benign
P21817:p.Tyr3213Phe,benign
P21817:p.Ser3217Pro,pathogenic
P21817:p.Arg3248Gln,benign
P21817:p.Asp3252Glu,benign
P21817:p.Glu3290Lys,pathogenic
P21817:p.Pro3293Ser,benign
P21817:p.Ser3294Pro,benign
P21817:p.Leu3296Pro,benign
P21817:p.Ala3298Ser,benign
P21817:p.Ala3298Thr,benign
P21817:p.Gly3299Ala,benign
P21817:p.Ala3300Gly,benign
P21817:p.Pro3301Ala,benign
P21817:p.Asn3326Lys,pathogenic
P21817:p.Ser3333Leu,benign
P21817:p.Ser3333Thr,benign
P21817:p.Gln3355His,benign
P21817:p.Gln3355Arg,benign
P21817:p.Arg3366His,pathogenic
P21817:p.Gly3370Ala,benign
P21817:p.Ser3374Ala,benign
P21817:p.Gln3388Glu,benign
P21817:p.Leu3392Met,benign
P21817:p.Leu3392Val,benign
P21817:p.Cys3402Gly,pathogenic
P21817:p.Pro3410Gln,pathogenic
P21817:p.Gln3422His,benign
P21817:p.Ser3430Asn,benign
P21817:p.Asn3474Ser,benign
P21817:p.Ala3481Thr,benign
P21817:p.Asp3483Val,benign
P21817:p.Ile3484Thr,benign
P21817:p.Ile3484Val,benign
P21817:p.Arg3499Leu,benign
P21817:p.Asp3501Tyr,pathogenic
P21817:p.Pro3527Ser,pathogenic
P21817:p.Asp3531Glu,benign
P21817:p.Thr3534Ala,benign
P21817:p.Thr3534Val,benign
P21817:p.Leu3535His,benign
P21817:p.Thr3538Ala,benign
P21817:p.Thr3538Asn,benign
P21817:p.Arg3539His,pathogenic
P21817:p.Phe3552Tyr,benign
P21817:p.His3554Asn,benign
P21817:p.His3554Gln,benign
P21817:p.His3558Asn,benign
P21817:p.Arg3577Trp,benign
P21817:p.Val3579Leu,benign
P21817:p.Asp3585Gly,benign
P21817:p.Ala3586Thr,benign
P21817:p.Tyr3605His,benign
P21817:p.Asp3607Glu,benign
P21817:p.Thr3609Ile,benign
P21817:p.Thr3609Met,benign
P21817:p.Thr3639Ser,benign
P21817:p.Phe3653Leu,benign
P21817:p.Ala3660Ser,benign
P21817:p.Ala3660Thr,benign
P21817:p.Ala3660Val,benign
P21817:p.Ile3662Leu,benign
P21817:p.Thr3664Ser,benign
P21817:p.Glu3682Gly,benign
P21817:p.Glu3684Gln,benign
P21817:p.Met3723Ile,benign
P21817:p.Gly3742Ala,benign
P21817:p.Gly3742Cys,benign
P21817:p.Glu3743Ala,benign
P21817:p.Glu3743Gly,benign
P21817:p.Ala3744Glu,benign
P21817:p.Ala3744Gln,benign
P21817:p.Ala3744Ser,benign
P21817:p.Glu3745Gly,benign
P21817:p.Glu3745Gln,benign
P21817:p.Val3748Ala,benign
P21817:p.Val3748Gly,benign
P21817:p.Gln3756Glu,benign
P21817:p.Arg3761Lys,benign
P21817:p.Ala3767Ser,benign
P21817:p.Thr3771Asn,benign
P21817:p.Arg3772Gln,pathogenic
P21817:p.Arg3772Trp,pathogenic
P21817:p.Thr3789Met,benign
P21817:p.Ala3791Thr,benign
P21817:p.Gly3806Arg,pathogenic
P21817:p.Glu3810Asp,benign
P21817:p.Asn3866Val,benign
P21817:p.Ile3916Met,pathogenic
P21817:p.Tyr3933Cys,pathogenic
P21817:p.Met4038Thr,benign
P21817:p.Gln4093Lys,benign
P21817:p.Ser4103Thr,benign
P21817:p.Asn4123Asp,benign
P21817:p.Cys4124Phe,benign
P21817:p.Arg4136Ser,pathogenic
P21817:p.His4160Arg,benign
P21817:p.Ser4168Asn,benign
P21817:p.Ala4185Ser,benign
P21817:p.Arg4187Gly,benign
P21817:p.Ala4202Thr,benign
P21817:p.Ala4227Ser,benign
P21817:p.Leu4232Met,benign
P21817:p.Val4234Leu,pathogenic
P21817:p.Thr4259Ala,benign
P21817:p.Thr4259Glu,benign
P21817:p.Asp4260Ala,benign
P21817:p.Asp4260Glu,benign
P21817:p.Glu4263Asp,benign
P21817:p.Ala4265Val,benign
P21817:p.Gly4266Ala,benign
P21817:p.Gly4266Glu,benign
P21817:p.Gly4266Ser,benign
P21817:p.Ala4267Glu,benign
P21817:p.Ala4267Leu,benign
P21817:p.Ala4268Glu,benign
P21817:p.Ala4268Gly,benign
P21817:p.Glu4269Ala,benign
P21817:p.Glu4269Gly,benign
P21817:p.Ala4270Thr,benign
P21817:p.Gly4271Glu,benign
P21817:p.Ala4272Gly,benign
P21817:p.Ala4272Val,benign
P21817:p.Glu4273Ala,benign
P21817:p.Gly4274Glu,benign
P21817:p.Gly4274Ser,benign
P21817:p.Ala4275Glu,benign
P21817:p.Glu4276Gly,benign
P21817:p.Glu4276Val,benign
P21817:p.Glu4277Ala,benign
P21817:p.Gly4278Glu,benign
P21817:p.Gly4278Ser,benign
P21817:p.Ala4279Gly,benign
P21817:p.Ala4280Glu,benign
P21817:p.Ala4280Pro,benign
P21817:p.Ala4280Val,benign
P21817:p.Gly4281Glu,benign
P21817:p.Leu4282Glu,benign
P21817:p.Leu4282Gly,benign
P21817:p.Leu4282Pro,benign
P21817:p.Leu4282Ser,benign
P21817:p.Leu4282Val,benign
P21817:p.Glu4283Ala,benign
P21817:p.Glu4283Asp,benign
P21817:p.Glu4283Gly,benign
P21817:p.Gly4284Ala,benign
P21817:p.Gly4284Glu,benign
P21817:p.Thr4285Ala,benign
P21817:p.Thr4285Gly,benign
P21817:p.Thr4285Ser,benign
P21817:p.Ala4286Gly,benign
P21817:p.Ala4286Thr,benign
P21817:p.Ala4287Glu,benign
P21817:p.Ala4287Gly,benign
P21817:p.Ala4287Pro,benign
P21817:p.Ala4287Ser,benign
P21817:p.Ala4287Thr,benign
P21817:p.Thr4288Ala,benign
P21817:p.Thr4288Glu,benign
P21817:p.Thr4288Gly,benign
P21817:p.Thr4288Ser,benign
P21817:p.Ala4289Gly,benign
P21817:p.Ala4289Thr,benign
P21817:p.Ala4290Val,benign
P21817:p.Ala4291Pro,benign
P21817:p.Gly4292Ala,benign
P21817:p.Gly4292Arg,benign
P21817:p.Gly4292Thr,benign
P21817:p.Ala4293Gly,benign
P21817:p.Ala4293Leu,benign
P21817:p.Ala4293Val,benign
P21817:p.Thr4294Ala,benign
P21817:p.Thr4294Trp,benign
P21817:p.Ala4295Gly,benign
P21817:p.Ala4295Lys,benign
P21817:p.Ala4295Thr,benign
P21817:p.Ala4295Val,benign
P21817:p.Arg4296Ala,benign
P21817:p.Arg4296Gly,benign
P21817:p.Arg4296Trp,benign
P21817:p.Val4297Ala,benign
P21817:p.Val4297Leu,benign
P21817:p.Val4298Ala,benign
P21817:p.Val4298Ser,benign
P21817:p.Ala4300Leu,benign
P21817:p.Ala4300Thr,benign
P21817:p.Ala4301Met,benign
P21817:p.Ala4301Thr,benign
P21817:p.Gly4302Ala,benign
P21817:p.Gly4302Asn,benign
P21817:p.Gly4302Ser,benign
P21817:p.Ala4304Thr,benign
P21817:p.Leu4305Met,benign
P21817:p.Arg4306Ser,benign
P21817:p.Val4317Ile,benign
P21817:p.Arg4319Gln,benign
P21817:p.Arg4322Lys,benign
P21817:p.Glu4327Gly,benign
P21817:p.Val4332Ala,benign
P21817:p.Val4332Leu,benign
P21817:p.Ala4333Val,benign
P21817:p.Ala4334Thr,benign
P21817:p.Leu4336Ile,benign
P21817:p.Ala4339Leu,benign
P21817:p.Ala4339Val,benign
P21817:p.Val4340Leu,benign
P21817:p.Thr4341Ala,benign
P21817:p.Arg4342Cys,benign
P21817:p.Arg4342His,benign
P21817:p.Arg4342Gln,benign
P21817:p.Ala4343Gly,benign
P21817:p.Ala4343Val,benign
P21817:p.Ala4345Gly,benign
P21817:p.Gly4347Ala,benign
P21817:p.Ala4348Val,benign
P21817:p.Ala4352Val,benign
P21817:p.Gly4356His,benign
P21817:p.Gly4356Arg,benign
P21817:p.Phe4363Ala,benign
P21817:p.Gly4365Ala,benign
P21817:p.Glu4369Asp,benign
P21817:p.Gly4370Ser,benign
P21817:p.Lys4372Glu,benign
P21817:p.Lys4373Glu,benign
P21817:p.Ser4388Gly,benign
P21817:p.Glu4394Gln,benign
P21817:p.Ala4397Ser,benign
P21817:p.Ala4397Thr,benign
P21817:p.Ala4397Val,benign
P21817:p.Pro4399Ala,benign
P21817:p.Pro4399Ser,benign
P21817:p.Gly4401Ser,benign
P21817:p.Asp4402Glu,benign
P21817:p.Ala4403Thr,benign
P21817:p.Asp4404Glu,benign
P21817:p.Asp4404Gly,benign
P21817:p.Gly4405Val,benign
P21817:p.Glu4406Ala,benign
P21817:p.Ala4408Glu,benign
P21817:p.Ala4408Thr,benign
P21817:p.Ser4409Gly,benign
P21817:p.Ala4412Glu,benign
P21817:p.Asp4414Glu,benign
P21817:p.Ala4415Glu,benign
P21817:p.Ala4415Thr,benign
P21817:p.Ala4416Leu,benign
P21817:p.Ala4416Thr,benign
P21817:p.Ala4416Trp,benign
P21817:p.Glu4417Asp,benign
P21817:p.Gly4420Asp,benign
P21817:p.Asp4421Glu,benign
P21817:p.Asp4421Gln,benign
P21817:p.Glu4422Asp,benign
P21817:p.Glu4423Ala,benign
P21817:p.Glu4424Ala,benign
P21817:p.Glu4424Thr,benign
P21817:p.Glu4424Val,benign
P21817:p.Ala4425Val,benign
P21817:p.Val4426Ala,benign
P21817:p.Val4426Asp,benign
P21817:p.Val4426His,benign
P21817:p.His4427Asp,benign
P21817:p.His4427Glu,benign
P21817:p.Glu4428Ala,benign
P21817:p.Glu4428Gln,benign
P21817:p.Ala4429Glu,benign
P21817:p.Ala4429Gly,benign
P21817:p.Gly4430Asp,benign
P21817:p.Gly4430Pro,benign
P21817:p.Pro4431Gly,benign
P21817:p.Gly4433Ala,benign
P21817:p.Gly4433Val,benign
P21817:p.Ala4434Gly,benign
P21817:p.Ala4434Ser,benign
P21817:p.Ala4434Val,benign
P21817:p.Asp4435His,benign
P21817:p.Asp4435Gln,benign
P21817:p.Ala4437Thr,benign
P21817:p.Ala4437Val,benign
P21817:p.Val4440Met,benign
P21817:p.Thr4441Ala,benign
P21817:p.Thr4441Ser,benign
P21817:p.Asp4442Glu,benign
P21817:p.Gly4444Ser,benign
P21817:p.Glu4449Phe,benign
P21817:p.Gly4450Arg,benign
P21817:p.Ala4451Pro,benign
P21817:p.Gly4452Glu,benign
P21817:p.Ala4463Val,benign
P21817:p.Leu4474Ile,benign
P21817:p.Val4483Glu,benign
P21817:p.Glu4486Ala,benign
P21817:p.Glu4486Leu,benign
P21817:p.Leu4487Glu,benign
P21817:p.Leu4487Pro,benign
P21817:p.Pro4488Leu,benign
P21817:p.Pro4489Glu,benign
P21817:p.Pro4489Ile,benign
P21817:p.Glu4492Asp,benign
P21817:p.Glu4494Gln,benign
P21817:p.Leu4499Pro,benign
P21817:p.Glu4500Lys,benign
P21817:p.Pro4501Leu,pathogenic
P21817:p.Ala4506Glu,benign
P21817:p.Ala4506Thr,benign
P21817:p.Glu4516Lys,benign
P21817:p.Pro4517Thr,benign
P21817:p.Thr4518Pro,benign
P21817:p.Lys4523Pro,benign
P21817:p.Gln4525Ala,benign
P21817:p.Gln4525Lys,benign
P21817:p.Gln4525Met,benign
P21817:p.Gln4525Thr,benign
P21817:p.Ala4526Thr,benign
P21817:p.Ser4529Pro,benign
P21817:p.Pro4530Ala,benign
P21817:p.Pro4532Ala,benign
P21817:p.Glu4536Gly,benign
P21817:p.Ala4537Gly,benign
P21817:p.Gly4538Arg,benign
P21817:p.Gly4538Trp,benign
P21817:p.Gly4539Ser,benign
P21817:p.Arg4558Gln,pathogenic
P21817:p.Met4593Phe,benign
P21817:p.Met4593Ile,benign
P21817:p.Gly4595Ser,benign
P21817:p.Ala4597Gly,benign
P21817:p.Ala4598Thr,benign
P21817:p.Asp4600Gly,benign
P21817:p.Val4601Ile,benign
P21817:p.Val4601Leu,benign
P21817:p.Val4601Met,benign
P21817:p.Ser4606Ala,benign
P21817:p.Gly4608Asp,benign
P21817:p.Ser4609Gly,benign
P21817:p.Leu4614Ser,benign
P21817:p.Gly4615Arg,benign
P21817:p.Ala4616Glu,benign
P21817:p.Gly4617Ala,benign
P21817:p.Ala4620Val,benign
P21817:p.Asp4623Glu,benign
P21817:p.Glu4626Asp,benign
P21817:p.Thr4637Ala,pathogenic
P21817:p.Gly4638Asp,pathogenic
P21817:p.Arg4645Trp,benign
P21817:p.Leu4650Pro,pathogenic
P21817:p.His4651Pro,pathogenic
P21817:p.Phe4684Ser,pathogenic
P21817:p.Thr4690Met,benign
P21817:p.Ser4714Arg,benign
P21817:p.Lys4724Gln,pathogenic
P21817:p.Tyr4733Phe,benign
P21817:p.Arg4737Gln,pathogenic
P21817:p.Arg4737Trp,pathogenic
P21817:p.Gly4743Asp,pathogenic
P21817:p.Thr4748Ser,benign
P21817:p.Asn4755Ser,benign
P21817:p.Glu4756Asp,benign
P21817:p.Asn4760Asp,benign
P21817:p.Asn4760Glu,benign
P21817:p.Asn4760Ser,benign
P21817:p.Pro4762Gln,benign
P21817:p.Leu4769Ile,benign
P21817:p.Leu4793Pro,pathogenic
P21817:p.Gly4794Thr,benign
P21817:p.Tyr4796Cys,pathogenic
P21817:p.Leu4814Phe,pathogenic
P21817:p.Leu4824Pro,pathogenic
P21817:p.Arg4825Cys,pathogenic
P21817:p.Thr4826Ile,pathogenic
P21817:p.Leu4838Val,pathogenic
P21817:p.Val4842Met,pathogenic
P21817:p.Ala4846Val,pathogenic
P21817:p.Val4849Ile,pathogenic
P21817:p.Arg4861Cys,pathogenic
P21817:p.Arg4861His,pathogenic
P21817:p.Tyr4864Cys,pathogenic
P21817:p.Asp4871Asn,benign
P21817:p.Glu4872Asp,benign
P21817:p.Lys4876Arg,pathogenic
P21817:p.Thr4882Met,pathogenic
P21817:p.Gly4891Arg,pathogenic
P21817:p.Arg4893Gln,pathogenic
P21817:p.Arg4893Trp,pathogenic
P21817:p.Gly4897Ala,pathogenic
P21817:p.Gly4897Val,pathogenic
P21817:p.Ile4898Thr,pathogenic
P21817:p.Gly4899Glu,pathogenic
P21817:p.Gly4899Arg,pathogenic
P21817:p.Ala4906Val,pathogenic
P21817:p.Arg4914Gly,pathogenic
P21817:p.Arg4914Thr,pathogenic
P21817:p.Ile4938Met,pathogenic
P21817:p.Ile4938Thr,pathogenic
P21817:p.Asp4939Glu,pathogenic
P21817:p.Ala4940Thr,pathogenic
P21817:p.Gly4942Val,pathogenic
P21817:p.Lys4952Arg,benign
P21817:p.Pro4973Leu,pathogenic
P21817:p.Gly4975Arg,benign
P21817:p.Ser5038Gly,benign
P40692:p.Met1Trp,benign
P40692:p.Ser2Arg,benign
P40692:p.Phe3Glu,benign
P40692:p.Val4Glu,benign
P40692:p.Ala5Ile,benign
P40692:p.Val7Asn,benign
P40692:p.Ile8Thr,benign
P40692:p.Arg18Cys,pathogenic
P40692:p.Ala21Val,pathogenic
P40692:p.Ile25Phe,pathogenic
P40692:p.Pro28Leu,pathogenic
P40692:p.Met35Asn,pathogenic
P40692:p.Met35Arg,pathogenic
P40692:p.Met35Trp,benign
P40692:p.Ile36Lys,benign
P40692:p.Asn38His,pathogenic
P40692:p.Asp41Gly,pathogenic
P40692:p.Ser44Phe,pathogenic
P40692:p.Ile47Thr,benign
P40692:p.Ile50Val,benign
P40692:p.Gln62Lys,pathogenic
P40692:p.Asp63Glu,pathogenic
P40692:p.Asn64Ser,pathogenic
P40692:p.Gly67Arg,pathogenic
P40692:p.Gly67Trp,pathogenic
P40692:p.Ile68Asn,pathogenic
P40692:p.Arg69Lys,pathogenic
P40692:p.Lys70Arg,benign
P40692:p.Cys77Arg,pathogenic
P40692:p.Phe80Val,pathogenic
P40692:p.Lys84Glu,pathogenic
P40692:p.Gly101Asp,pathogenic
P40692:p.Ile107Arg,pathogenic
P40692:p.Thr117Met,pathogenic
P40692:p.Thr117Arg,pathogenic
P40692:p.Ala128Pro,pathogenic
P40692:p.Ala137Gly,benign
P40692:p.Leu155Arg,pathogenic
P40692:p.Ala160Thr,benign
P40692:p.Ser170Asn,benign
P40692:p.Val179Ile,benign
P40692:p.Arg182Gly,pathogenic
P40692:p.Arg182Lys,pathogenic
P40692:p.Val185Gly,pathogenic
P40692:p.Val185Ile,benign
P40692:p.Ala188Ser,benign
P40692:p.Ser193Pro,pathogenic
P40692:p.Ser193Thr,benign
P40692:p.Asn209Ser,benign
P40692:p.Arg226Leu,pathogenic
P40692:p.Lys241Arg,benign
P40692:p.Gly244Asp,pathogenic
P40692:p.Ser247Pro,pathogenic
P40692:p.His264Tyr,pathogenic
P40692:p.Ala282Gly,pathogenic
P40692:p.Ser295Thr,pathogenic
P40692:p.Asp304Val,pathogenic
P40692:p.Val326Ala,pathogenic
P40692:p.His329Pro,pathogenic
P40692:p.Asn338Ser,pathogenic
P40692:p.Met359Val,benign
P40692:p.Thr364Ala,benign
P40692:p.Thr367Ile,benign
P40692:p.Ser370Cys,benign
P40692:p.Ser375Gly,benign
P40692:p.Val378Leu,benign
P40692:p.Tyr379Cys,pathogenic
P40692:p.Lys402Thr,benign
P40692:p.Pro408Ser,benign
P40692:p.Pro408Thr,benign
P40692:p.Gln409Glu,benign
P40692:p.Ile411Thr,benign
P40692:p.Ile411Val,benign
P40692:p.Thr413Pro,benign
P40692:p.Arg423Gly,benign
P40692:p.Arg425Met,benign
P40692:p.Ala436Ser,benign
P40692:p.Val440Met,benign
P40692:p.Ala441Thr,pathogenic
P40692:p.Ser446Ile,benign
P40692:p.Leu447Ser,benign
P40692:p.Glu448Lys,benign
P40692:p.Gly454Ala,benign
P40692:p.Gly454Glu,benign
P40692:p.Met458Val,benign
P40692:p.Glu460Asp,benign
P40692:p.Ser467Arg,benign
P40692:p.His473Tyr,benign
P40692:p.Glu480Asp,benign
P40692:p.Asp485Glu,pathogenic
P40692:p.Glu489Asp,benign
P40692:p.Ala492Thr,pathogenic
P40692:p.Val506Ala,pathogenic
P40692:p.Gln516Arg,benign
P40692:p.Gly517Glu,benign
P40692:p.Val520Ile,benign
P40692:p.Asn527Asp,benign
P40692:p.Gln542Leu,pathogenic
P40692:p.Gln542Pro,pathogenic
P40692:p.Leu549Pro,pathogenic
P40692:p.Leu550Pro,pathogenic
P40692:p.Asn551Thr,pathogenic
P40692:p.Thr552Ala,benign
P40692:p.Leu559Arg,pathogenic
P40692:p.Ile565Phe,pathogenic
P40692:p.Leu574Pro,pathogenic
P40692:p.Glu578Gly,pathogenic
P40692:p.Leu582Val,pathogenic
P40692:p.Asp584Gly,benign
P40692:p.Ala586Pro,pathogenic
P40692:p.Leu588Pro,pathogenic
P40692:p.Ala589Asp,pathogenic
P40692:p.Lys618Thr,pathogenic
P40692:p.Leu622His,pathogenic
P40692:p.Glu633Val,benign
P40692:p.Asn635Ser,benign
P40692:p.Leu636Pro,pathogenic
P40692:p.Ile637Thr,benign
P40692:p.Pro640Ser,pathogenic
P40692:p.Pro648Leu,pathogenic
P40692:p.Pro648Ser,pathogenic
P40692:p.Pro654Leu,pathogenic
P40692:p.Arg659Leu,pathogenic
P40692:p.Arg659Pro,pathogenic
P40692:p.Glu674Lys,benign
P40692:p.Ile691Val,benign
P40692:p.Val704Gly,benign
P40692:p.Ile708Val,benign
P40692:p.Pro709Ser,benign
P40692:p.Asn710Asp,benign
P40692:p.Leu724Met,pathogenic
P40692:p.Lys751Arg,benign
O15118:p.Thr2Ile,benign
O15118:p.Thr2Ser,benign
O15118:p.Ala7Gly,benign
O15118:p.Pro17Leu,benign
O15118:p.Pro17Arg,benign
O15118:p.Ile33Met,benign
O15118:p.Ile33Val,benign
O15118:p.Ser45Phe,benign
O15118:p.Pro47Ser,benign
O15118:p.Cys63Arg,pathogenic
O15118:p.Gly69Asp,benign
O15118:p.Cys74Tyr,pathogenic
O15118:p.Val77Ile,benign
O15118:p.Arg78Gln,benign
O15118:p.Asn86Ser,benign
O15118:p.Gln92Arg,pathogenic
O15118:p.Cys113Arg,pathogenic
O15118:p.Thr137Met,pathogenic
O15118:p.Tyr147Phe,benign
O15118:p.Pro166Ser,pathogenic
O15118:p.Cys177Gly,pathogenic
O15118:p.Cys177Tyr,pathogenic
O15118:p.Ala181Val,benign
O15118:p.Ala183Val,benign
O15118:p.Asn185Ile,benign
O15118:p.Ala186Ser,benign
O15118:p.Thr187Val,benign
O15118:p.Asn188Gly,benign
O15118:p.Trp189Phe,benign
O15118:p.Met193Val,benign
O15118:p.Asn195Gln,benign
O15118:p.Lys196Trp,benign
O15118:p.Asp197Ser,benign
O15118:p.Asn198Leu,benign
O15118:p.Gln200Leu,benign
O15118:p.Ala201Asn,benign
O15118:p.Pro202Leu,benign
O15118:p.Phe203Tyr,benign
O15118:p.Thr204Ser,benign
O15118:p.Ile205Thr,benign
O15118:p.Thr206Gln,benign
O15118:p.Pro207Phe,benign
O15118:p.Val208Ala,benign
O15118:p.Val208Leu,benign
O15118:p.Phe209Pro,benign
O15118:p.Ser210Val,benign
O15118:p.Asp211His,benign
O15118:p.His215Arg,benign
O15118:p.Asn221Ser,benign
O15118:p.Asn222Ser,pathogenic
O15118:p.Val231Gly,pathogenic
O15118:p.Val234Ala,benign
O15118:p.Pro237Ser,pathogenic
O15118:p.Asp242His,pathogenic
O15118:p.Asp242Asn,pathogenic
O15118:p.Cys247Tyr,pathogenic
O15118:p.Gly248Val,pathogenic
O15118:p.Ala258Thr,benign
O15118:p.Pro259His,benign
O15118:p.Thr261Met,benign
O15118:p.Met272Arg,pathogenic
O15118:p.Ala278Val,benign
O15118:p.Val282Met,benign
O15118:p.Ala321Val,benign
O15118:p.Arg337Gln,benign
O15118:p.Arg348Gln,benign
O15118:p.Ile361Val,benign
O15118:p.Thr362Ala,benign
O15118:p.Ala363Val,benign
O15118:p.Arg372Trp,pathogenic
O15118:p.Val378Ala,pathogenic
O15118:p.Val378Ile,benign
O15118:p.Leu380Phe,pathogenic
O15118:p.Ala388Pro,pathogenic
O15118:p.Arg389Cys,pathogenic
O15118:p.Glu393Ala,benign
O15118:p.Pro401Thr,pathogenic
O15118:p.Arg404Pro,pathogenic
O15118:p.Arg404Gln,pathogenic
O15118:p.Arg404Trp,pathogenic
O15118:p.Arg411Gln,benign
O15118:p.His418Pro,benign
O15118:p.Ile419Thr,benign
O15118:p.Pro433Leu,pathogenic
O15118:p.Pro434Leu,pathogenic
O15118:p.Glu451Lys,pathogenic
O15118:p.Tyr457Ser,benign
O15118:p.Asp458Asn,benign
O15118:p.Ser473Pro,pathogenic
O15118:p.Pro474Leu,pathogenic
O15118:p.Thr477Met,benign
O15118:p.Asn478His,benign
O15118:p.Cys479Tyr,pathogenic
O15118:p.Leu482Met,benign
O15118:p.Lys499Ile,benign
O15118:p.Tyr509Ser,pathogenic
O15118:p.His510Pro,pathogenic
O15118:p.His512Arg,pathogenic
O15118:p.Arg518Gln,pathogenic
O15118:p.Arg518Trp,pathogenic
O15118:p.Ala521Ser,pathogenic
O15118:p.Phe537Leu,pathogenic
O15118:p.Pro543Leu,pathogenic
O15118:p.Asn568Ser,benign
O15118:p.Thr574Lys,pathogenic
O15118:p.Lys576Arg,pathogenic
O15118:p.Lys585Gly,benign
O15118:p.Glu586Lys,benign
O15118:p.Phe590Leu,benign
O15118:p.Lys592Arg,benign
O15118:p.Lys595Arg,benign
O15118:p.Pro597Leu,benign
O15118:p.Pro597Ser,benign
O15118:p.Thr600Ser,benign
O15118:p.Thr604Ser,benign
O15118:p.Ala605Val,pathogenic
O15118:p.Glu612Asp,pathogenic
O15118:p.Asn614His,benign
O15118:p.Asn614Arg,benign
O15118:p.Arg615Cys,pathogenic
O15118:p.Arg615Leu,pathogenic
O15118:p.Asp618Asn,benign
O15118:p.Val621Ile,benign
O15118:p.Val624Ile,benign
O15118:p.Val625Ile,benign
O15118:p.Met631Arg,pathogenic
O15118:p.Gly640Arg,pathogenic
O15118:p.Met642Ile,benign
O15118:p.Arg646Gln,benign
O15118:p.Ser652Trp,pathogenic
O15118:p.Val654Ile,benign
O15118:p.Gly660Ser,pathogenic
O15118:p.Val664Met,pathogenic
O15118:p.Ser666Asn,pathogenic
O15118:p.Ala669Ser,benign
O15118:p.Cys670Trp,pathogenic
O15118:p.Gly673Val,pathogenic
O15118:p.Val674Ile,benign
O15118:p.Leu680Phe,benign
O15118:p.Leu684Phe,pathogenic
O15118:p.Pro691Leu,pathogenic
O15118:p.Leu695Val,pathogenic
O15118:p.Asp700Asn,pathogenic
O15118:p.Phe703Ser,pathogenic
O15118:p.Arg711Ile,benign
O15118:p.Arg711Tyr,benign
O15118:p.Asp712Phe,benign
O15118:p.Glu713His,benign
O15118:p.Glu713Val,benign
O15118:p.Arg714Gly,benign
O15118:p.Arg714Ile,benign
O15118:p.Leu715Val,benign
O15118:p.Gln716Thr,benign
O15118:p.Glu718Leu,benign
O15118:p.Thr719Arg,benign
O15118:p.Thr719Ser,benign
O15118:p.Leu720Glu,benign
O15118:p.Leu720Ile,benign
O15118:p.Asp721Cys,benign
O15118:p.Asp721Asn,benign
O15118:p.Gln722His,benign
O15118:p.Gln722Ser,benign
O15118:p.Gln723Ser,benign
O15118:p.Leu724Phe,benign
O15118:p.Leu724Ile,benign
O15118:p.Leu724Pro,pathogenic
O15118:p.Gly725Asp,benign
O15118:p.Arg726Pro,benign
O15118:p.Val727Phe,pathogenic
O15118:p.Val727Leu,benign
O15118:p.Leu728Cys,benign
O15118:p.Leu728Val,benign
O15118:p.Gly729Glu,benign
O15118:p.Glu730Leu,benign
O15118:p.Glu730Trp,benign
O15118:p.Val731Leu,benign
O15118:p.Val731Ser,benign
O15118:p.Ala732Leu,benign
O15118:p.Pro733Gly,benign
O15118:p.Ser734Cys,benign
O15118:p.Ser734Ile,pathogenic
O15118:p.Met735Ala,benign
O15118:p.Met735Leu,benign
O15118:p.Phe736Lys,benign
O15118:p.Phe736Leu,benign
O15118:p.Leu737Cys,benign
O15118:p.Leu737Val,benign
O15118:p.Ser739Lys,benign
O15118:p.Ser739Val,benign
O15118:p.Phe740Ala,benign
O15118:p.Phe740Ser,benign
O15118:p.Ser741Cys,benign
O15118:p.Ser741Lys,benign
O15118:p.Glu742Lys,pathogenic
O15118:p.Glu742Val,benign
O15118:p.Thr743Gly,benign
O15118:p.Val744Leu,benign
O15118:p.Ala745Glu,pathogenic
O15118:p.Ala745Leu,benign
O15118:p.Ala745Ser,benign
O15118:p.Phe746Thr,benign
O15118:p.Phe747Ile,benign
O15118:p.Phe747Pro,benign
O15118:p.Leu748Ala,benign
O15118:p.Leu748Phe,benign
O15118:p.Leu751Met,benign
O15118:p.Val753Met,benign
O15118:p.Met754Lys,pathogenic
O15118:p.Phe763Leu,pathogenic
O15118:p.Ala767Val,pathogenic
O15118:p.Leu773Ile,benign
O15118:p.Gln775Pro,pathogenic
O15118:p.Lys788Asn,benign
O15118:p.Arg789Cys,pathogenic
O15118:p.Arg789Gly,pathogenic
O15118:p.Val801Ile,benign
O15118:p.Arg802Lys,benign
O15118:p.Ala804Val,benign
O15118:p.Cys816Tyr,benign
O15118:p.Tyr825Cys,pathogenic
O15118:p.Ser826Ala,benign
O15118:p.Ile839Val,benign
O15118:p.Ile841Val,benign
O15118:p.Ser849Ile,pathogenic
O15118:p.Ile858Val,benign
O15118:p.Gln862Leu,pathogenic
O15118:p.Ser863Phe,benign
O15118:p.Ser865Leu,pathogenic
O15118:p.Tyr871Cys,pathogenic
O15118:p.Met872Val,benign
O15118:p.Asp874Val,pathogenic
O15118:p.Ile879Met,benign
O15118:p.Ser880Asn,benign
O15118:p.Pro888Ser,pathogenic
O15118:p.Val889Met,pathogenic
O15118:p.Tyr890Cys,pathogenic
O15118:p.Tyr899Asp,pathogenic
O15118:p.Ser902Pro,benign
O15118:p.Gly910Ser,pathogenic
O15118:p.Asp917Tyr,pathogenic
O15118:p.Ala926Thr,pathogenic
O15118:p.Ala927Val,pathogenic
O15118:p.Gln928Pro,pathogenic
O15118:p.Leu929Met,benign
O15118:p.Leu929Pro,pathogenic
O15118:p.Arg934Gln,pathogenic
O15118:p.Ser940Leu,pathogenic
O15118:p.Trp942Cys,pathogenic
O15118:p.Ile943Met,pathogenic
O15118:p.Asp944Asn,pathogenic
O15118:p.Asp945Asn,pathogenic
O15118:p.Asp948His,pathogenic
O15118:p.Asp948Asn,pathogenic
O15118:p.Asp948Tyr,pathogenic
O15118:p.Val950Met,pathogenic
O15118:p.Ser954Leu,pathogenic
O15118:p.Cys956Tyr,pathogenic
O15118:p.Arg958Leu,pathogenic
O15118:p.Arg958Gln,pathogenic
O15118:p.Val959Glu,pathogenic
O15118:p.Asn961Ser,pathogenic
O15118:p.Asn968Ser,pathogenic
O15118:p.Cys976Arg,pathogenic
O15118:p.Val977Ile,benign
O15118:p.Arg978Cys,pathogenic
O15118:p.Pro984Ala,benign
O15118:p.Gly986Ser,pathogenic
O15118:p.Gly992Ala,pathogenic
O15118:p.Gly992Arg,pathogenic
O15118:p.Gly992Trp,pathogenic
O15118:p.Gly993Arg,benign
O15118:p.Met996Arg,pathogenic
O15118:p.Arg997Lys,benign
O15118:p.Ser1004Leu,pathogenic
O15118:p.Pro1007Ala,pathogenic
O15118:p.Gly1012Asp,pathogenic
O15118:p.Gly1015Val,pathogenic
O15118:p.His1016Arg,pathogenic
O15118:p.Val1023Gly,pathogenic
O15118:p.Gly1028Ser,benign
O15118:p.His1029Asn,benign
O15118:p.Arg1032Gly,benign
O15118:p.Gly1034Arg,pathogenic
O15118:p.Ala1035Val,pathogenic
O15118:p.Thr1036Lys,pathogenic
O15118:p.Thr1036Met,pathogenic
O15118:p.Ala1054Thr,pathogenic
O15118:p.Arg1059Gln,pathogenic
O15118:p.Ile1061Thr,pathogenic
O15118:p.Ile1061Val,benign
O15118:p.Ala1062Val,pathogenic
O15118:p.Val1065Ile,benign
O15118:p.Thr1066Asn,pathogenic
O15118:p.Glu1067Lys,benign
O15118:p.Phe1087Leu,pathogenic
O15118:p.Tyr1088Cys,pathogenic
O15118:p.Glu1089Lys,pathogenic
O15118:p.Ile1094Thr,pathogenic
O15118:p.Asp1097Asn,pathogenic
O15118:p.Ile1099Val,benign
O15118:p.Val1104Ala,benign
O15118:p.Ala1124Thr,benign
O15118:p.Ala1129Thr,benign
O15118:p.Val1134Ile,benign
O15118:p.Asn1137Ile,pathogenic
O15118:p.Gly1140Val,pathogenic
O15118:p.Met1142Thr,pathogenic
O15118:p.Asn1150Lys,pathogenic
O15118:p.Asn1156Ile,pathogenic
O15118:p.Asn1156Ser,pathogenic
O15118:p.Val1165Met,pathogenic
O15118:p.Phe1167Leu,pathogenic
O15118:p.Cys1168Tyr,pathogenic
O15118:p.Ala1174Val,pathogenic
O15118:p.Met1179Thr,benign
O15118:p.Glu1185Asp,benign
O15118:p.Glu1185Lys,benign
O15118:p.Arg1186His,pathogenic
O15118:p.Glu1189Gly,pathogenic
O15118:p.Thr1205Lys,pathogenic
O15118:p.Thr1205Arg,pathogenic
O15118:p.Val1212Leu,pathogenic
O15118:p.Leu1213Phe,pathogenic
O15118:p.Leu1213Val,pathogenic
O15118:p.Ala1216Val,pathogenic
O15118:p.Phe1224Leu,pathogenic
O15118:p.Gly1236Glu,pathogenic
O15118:p.Gly1240Arg,pathogenic
O15118:p.Ile1242Val,benign
O15118:p.Ser1249Gly,pathogenic
O15118:p.Gly1252Ala,benign
O15118:p.Pro1253Lys,benign
O15118:p.Ser1254Leu,benign
O15118:p.Val1255Leu,benign
O15118:p.Asn1256Glu,benign
O15118:p.Lys1257Arg,benign
O15118:p.Ala1258Thr,benign
O15118:p.Lys1259Ile,benign
O15118:p.Ser1260Tyr,benign
O15118:p.Cys1261His,benign
O15118:p.Ala1262Ile,benign
O15118:p.Thr1263Ser,benign
O15118:p.Glu1264Gln,benign
O15118:p.Glu1265His,benign
O15118:p.Arg1266Ile,benign
O15118:p.Tyr1267Phe,benign
O15118:p.Tyr1267His,benign
O15118:p.Lys1268Tyr,benign
O15118:p.Gly1269Ala,benign
O15118:p.Glu1271Gln,benign
O15118:p.Arg1272Met,benign
O15118:p.Glu1273Ala,benign
O15118:p.Arg1274Pro,benign
O15118:p.Leu1276Gln,benign
O15118:p.Asn1277Cys,benign
O15118:p.Phe1278Leu,benign
Q9UBP0:p.Asn2Ser,benign
Q9UBP0:p.Ser13Cys,benign
Q9UBP0:p.Gly15Ser,benign
Q9UBP0:p.Ala16Cys,benign
Q9UBP0:p.Ala16Gly,benign
Q9UBP0:p.Ala16Pro,benign
Q9UBP0:p.Ser17Cys,benign
Q9UBP0:p.Asn18Ser,benign
Q9UBP0:p.Pro19Ala,benign
Q9UBP0:p.Pro19Ser,benign
Q9UBP0:p.Val20Ser,benign
Q9UBP0:p.Pro21Asn,benign
Q9UBP0:p.Pro22Arg,benign
Q9UBP0:p.Pro22Ser,benign
Q9UBP0:p.Arg23Val,benign
Q9UBP0:p.Pro27His,benign
Q9UBP0:p.Pro27Ser,benign
Q9UBP0:p.Leu29Pro,benign
Q9UBP0:p.Leu29Gln,benign
Q9UBP0:p.Pro31Ala,benign
Q9UBP0:p.Pro31Ser,benign
Q9UBP0:p.Pro31Thr,benign
Q9UBP0:p.Ala32Gly,benign
Q9UBP0:p.Ala32Ser,benign
Q9UBP0:p.Pro33Arg,benign
Q9UBP0:p.Pro34His,benign
Q9UBP0:p.Pro34Ser,benign
Q9UBP0:p.Ala36Pro,benign
Q9UBP0:p.Gly37Lys,benign
Q9UBP0:p.Gly37Arg,benign
Q9UBP0:p.Pro38Arg,benign
Q9UBP0:p.Pro40Cys,benign
Q9UBP0:p.Pro40Ser,benign
Q9UBP0:p.Pro41Ala,benign
Q9UBP0:p.Pro41Gln,benign
Q9UBP0:p.Pro41Arg,benign
Q9UBP0:p.Pro41Ser,benign
Q9UBP0:p.Pro42Arg,benign
Q9UBP0:p.Glu43Ala,benign
Q9UBP0:p.Glu43Asp,benign
Q9UBP0:p.Glu43Gln,benign
Q9UBP0:p.Glu43Arg,benign
Q9UBP0:p.Pro45Leu,benign
Q9UBP0:p.Arg48Gln,benign
Q9UBP0:p.Phe58Cys,benign
Q9UBP0:p.Phe58Ile,benign
Q9UBP0:p.Phe58Val,benign
Q9UBP0:p.Val59Ala,benign
Q9UBP0:p.Val59Ile,benign
Q9UBP0:p.Val59Leu,benign
Q9UBP0:p.Val76Leu,benign
Q9UBP0:p.Phe82Leu,benign
Q9UBP0:p.Gly94Pro,benign
Q9UBP0:p.Gly94Arg,benign
Q9UBP0:p.Ala96Thr,benign
Q9UBP0:p.Ala98Thr,benign
Q9UBP0:p.Pro99Ser,benign
Q9UBP0:p.Ala100Ser,benign
Q9UBP0:p.Ser101Pro,benign
Q9UBP0:p.Ala102Ser,benign
Q9UBP0:p.Ala104Gly,benign
Q9UBP0:p.Ala104Pro,benign
Q9UBP0:p.Ala106Pro,benign
Q9UBP0:p.Ala106Thr,benign
Q9UBP0:p.Ala106Val,benign
Q9UBP0:p.Val108Glu,benign
Q9UBP0:p.Val108Gly,benign
Q9UBP0:p.Val108Leu,benign
Q9UBP0:p.Ala113Thr,benign
Q9UBP0:p.Glu114Asp,benign
Q9UBP0:p.Arg115His,benign
Q9UBP0:p.Arg115Ser,benign
Q9UBP0:p.Val118Ala,benign
Q9UBP0:p.Val118Asp,benign
Q9UBP0:p.Ile129Val,benign
Q9UBP0:p.Ala139Val,benign
Q9UBP0:p.Glu147Gly,benign
Q9UBP0:p.Ile163Val,benign
Q9UBP0:p.Val164Ile,benign
Q9UBP0:p.Thr165Ile,benign
Q9UBP0:p.Cys171Tyr,benign
Q9UBP0:p.Val186Gly,benign
Q9UBP0:p.Val186Ile,benign
Q9UBP0:p.Leu195Val,pathogenic
Q9UBP0:p.Met198Leu,benign
Q9UBP0:p.Pro203Gln,benign
Q9UBP0:p.Pro203Ser,benign
Q9UBP0:p.Ser205Thr,benign
Q9UBP0:p.Thr209Pro,benign
Q9UBP0:p.Asp210Glu,benign
Q9UBP0:p.Ser215Asn,benign
Q9UBP0:p.Leu218Val,benign
Q9UBP0:p.Ala219Thr,benign
Q9UBP0:p.Val232Ile,benign
Q9UBP0:p.Thr240Met,benign
Q9UBP0:p.Thr242Ala,benign
Q9UBP0:p.Thr242Pro,benign
Q9UBP0:p.Val252Ile,benign
Q9UBP0:p.Met253Leu,benign
Q9UBP0:p.Ala258Ser,benign
Q9UBP0:p.Ala258Thr,benign
Q9UBP0:p.Gly259Ser,benign
Q9UBP0:p.His264Gln,benign
Q9UBP0:p.Tyr269Cys,benign
Q9UBP0:p.Tyr269Phe,benign
Q9UBP0:p.Val278Ala,benign
Q9UBP0:p.Val278Thr,benign
Q9UBP0:p.Lys279Arg,benign
Q9UBP0:p.Gly281Ala,benign
Q9UBP0:p.Ser282Pro,benign
Q9UBP0:p.Gly283Thr,benign
Q9UBP0:p.Pro284Ser,benign
Q9UBP0:p.Ala285Gly,benign
Q9UBP0:p.Ala285Thr,benign
Q9UBP0:p.Ala285Val,benign
Q9UBP0:p.Pro286Ala,benign
Q9UBP0:p.Pro286Ile,benign
Q9UBP0:p.Pro286Thr,benign
Q9UBP0:p.Thr287Ala,benign
Q9UBP0:p.Thr287Gly,benign
Q9UBP0:p.Thr288Ser,benign
Q9UBP0:p.Gly291Ser,benign
Q9UBP0:p.Pro293Leu,pathogenic
Q9UBP0:p.Thr295Ala,benign
Q9UBP0:p.Ala307Thr,benign
Q9UBP0:p.Thr308Ala,benign
Q9UBP0:p.Thr308Pro,benign
Q9UBP0:p.Thr308Ser,benign
Q9UBP0:p.Arg309His,benign
Q9UBP0:p.Lys310Arg,benign
Q9UBP0:p.Leu314Met,benign
Q9UBP0:p.Asn316His,benign
Q9UBP0:p.Asn323Ser,benign
Q9UBP0:p.Ile344Lys,pathogenic
Q9UBP0:p.Gln347Lys,pathogenic
Q9UBP0:p.Asp348Glu,benign
Q9UBP0:p.Pro361Leu,pathogenic
Q9UBP0:p.Ser362Cys,pathogenic
Q9UBP0:p.Arg364Thr,pathogenic
Q9UBP0:p.Gly370Arg,pathogenic
Q9UBP0:p.Leu378Gln,pathogenic
Q9UBP0:p.Leu378Arg,pathogenic
Q9UBP0:p.Leu380His,pathogenic
Q9UBP0:p.Phe381Cys,pathogenic
Q9UBP0:p.Asn386Lys,pathogenic
Q9UBP0:p.Asn386Ser,pathogenic
Q9UBP0:p.Lys388Arg,pathogenic
Q9UBP0:p.Met390Val,pathogenic
Q9UBP0:p.Leu391Pro,pathogenic
Q9UBP0:p.Ser399Leu,pathogenic
Q9UBP0:p.Asn400Ser,benign
Q9UBP0:p.Ile406Val,pathogenic
Q9UBP0:p.Ser407Arg,pathogenic
Q9UBP0:p.Ala409Thr,pathogenic
Q9UBP0:p.Ser410Arg,pathogenic
Q9UBP0:p.Ser413Leu,pathogenic
Q9UBP0:p.Arg424Gly,pathogenic
Q9UBP0:p.Leu426Phe,pathogenic
Q9UBP0:p.Leu426Val,pathogenic
Q9UBP0:p.Pro435Leu,pathogenic
Q9UBP0:p.Ser436Phe,pathogenic
Q9UBP0:p.Ser436Pro,pathogenic
Q9UBP0:p.Asp441Gly,pathogenic
Q9UBP0:p.Asp441Asn,pathogenic
Q9UBP0:p.Cys448Tyr,pathogenic
Q9UBP0:p.Glu454Lys,pathogenic
Q9UBP0:p.Arg459Gly,pathogenic
Q9UBP0:p.Arg460Cys,pathogenic
Q9UBP0:p.Arg460Leu,pathogenic
Q9UBP0:p.Arg460Ser,pathogenic
Q9UBP0:p.Thr463Ala,pathogenic
Q9UBP0:p.Asp470Val,pathogenic
Q9UBP0:p.Ala485Val,pathogenic
Q9UBP0:p.Pro489Leu,pathogenic
Q9UBP0:p.Leu492Phe,pathogenic
Q9UBP0:p.Asp493Gly,pathogenic
Q9UBP0:p.Glu494Asp,benign
Q9UBP0:p.Arg498Gly,pathogenic
Q9UBP0:p.Arg499Cys,pathogenic
Q9UBP0:p.Arg499His,pathogenic
Q9UBP0:p.Ile501Thr,benign
Q9UBP0:p.Arg503Leu,pathogenic
Q9UBP0:p.Arg503Trp,pathogenic
Q9UBP0:p.Glu512Asp,pathogenic
Q9UBP0:p.Arg514Gly,pathogenic
Q9UBP0:p.Cys523Gly,benign
Q9UBP0:p.Leu534Pro,pathogenic
Q9UBP0:p.Ala551Tyr,pathogenic
Q9UBP0:p.Asp555Asn,pathogenic
Q9UBP0:p.Ala556Val,pathogenic
Q9UBP0:p.Gly559Asp,pathogenic
Q9UBP0:p.Arg562Gly,pathogenic
Q9UBP0:p.Arg562Gln,pathogenic
Q9UBP0:p.Ile580Thr,pathogenic
Q9UBP0:p.Ser583Ala,benign
Q9UBP0:p.Asp584His,pathogenic
Q9UBP0:p.Trp607Cys,pathogenic
Q9UBP0:p.Asp610Glu,benign
Q9UBP0:p.Thr614Ile,pathogenic
Q9UBP0:p.Thr615Ile,pathogenic
O43511:p.Ala2Thr,benign
O43511:p.Gly5Arg,benign
O43511:p.Gly6Ser,benign
O43511:p.Ser17Arg,benign
O43511:p.Met21Val,benign
O43511:p.Ser28Arg,pathogenic
O43511:p.Glu29Gln,pathogenic
O43511:p.Arg39Cys,benign
O43511:p.Ala51Val,benign
O43511:p.Cys53Gly,benign
O43511:p.Val64Leu,benign
O43511:p.Thr67Ser,benign
O43511:p.Val69Leu,benign
O43511:p.Val69Met,benign
O43511:p.Tyr78Cys,pathogenic
O43511:p.Val88Ile,benign
O43511:p.Ile89Val,benign
O43511:p.Ser90Leu,pathogenic
O43511:p.Ala98Gly,benign
O43511:p.Gly102Arg,pathogenic
O43511:p.Ala104Thr,benign
O43511:p.Tyr105Cys,pathogenic
O43511:p.Ala106Asp,pathogenic
O43511:p.Leu117Phe,pathogenic
O43511:p.Pro123Ser,pathogenic
O43511:p.Thr132Ile,pathogenic
O43511:p.Ser133Thr,pathogenic
O43511:p.Ser137Pro,pathogenic
O43511:p.Val138Phe,pathogenic
O43511:p.Gly139Ala,pathogenic
O43511:p.Met147Val,pathogenic
O43511:p.Ser154Arg,benign
O43511:p.Asp158Asn,benign
O43511:p.Val163Ile,benign
O43511:p.Val170Ala,benign
O43511:p.Met175Val,benign
O43511:p.Thr178Ile,benign
O43511:p.Ala180Thr,benign
O43511:p.Thr183Ile,benign
O43511:p.Ala191Thr,benign
O43511:p.Thr193Ile,pathogenic
O43511:p.Gly209Val,pathogenic
O43511:p.Leu236Pro,pathogenic
O43511:p.Val239Asp,pathogenic
O43511:p.Val242Met,benign
O43511:p.Ser243Phe,benign
O43511:p.Thr244Gln,benign
O43511:p.Lys245Gln,benign
O43511:p.Val250Ile,benign
O43511:p.Ser252Pro,pathogenic
O43511:p.Ile254Ser,benign
O43511:p.Tyr255Met,benign
O43511:p.Asp271His,pathogenic
O43511:p.Thr273Ile,benign
O43511:p.Leu276Ser,benign
O43511:p.Val281Ile,pathogenic
O43511:p.Ala284Val,benign
O43511:p.Gly316Ala,benign
O43511:p.Arg333Lys,benign
O43511:p.Phe335Leu,pathogenic
O43511:p.Glu339Ala,benign
O43511:p.Pro342Ser,benign
O43511:p.Ser344Gly,benign
O43511:p.Lys369Glu,pathogenic
O43511:p.Ala372Val,pathogenic
O43511:p.Thr378Ala,benign
O43511:p.Ile379Val,benign
O43511:p.Glu384Gly,pathogenic
O43511:p.Ser391Asn,pathogenic
O43511:p.Asn392Tyr,pathogenic
O43511:p.Val402Met,pathogenic
O43511:p.Arg409His,pathogenic
O43511:p.Arg409Pro,pathogenic
O43511:p.Thr410Met,pathogenic
O43511:p.Ala411Pro,pathogenic
O43511:p.Thr416Pro,pathogenic
O43511:p.Ala429Gly,benign
O43511:p.Leu436Val,benign
O43511:p.Leu445Trp,pathogenic
O43511:p.Gln446Arg,pathogenic
O43511:p.Ile455Phe,pathogenic
O43511:p.Asn457Lys,pathogenic
O43511:p.Leu465Val,benign
O43511:p.Ile468Val,benign
O43511:p.Ile477Thr,benign
O43511:p.Val480Asp,pathogenic
O43511:p.Ile490Leu,pathogenic
O43511:p.Gly497Ser,pathogenic
O43511:p.Ile503Val,benign
O43511:p.Thr508Asn,pathogenic
O43511:p.Gln514Arg,pathogenic
O43511:p.Tyr530His,pathogenic
O43511:p.Tyr530Ser,pathogenic
O43511:p.Gln543Arg,benign
O43511:p.Ser552Ile,pathogenic
O43511:p.Tyr556Cys,pathogenic
O43511:p.Tyr556His,pathogenic
O43511:p.Asn558Lys,pathogenic
O43511:p.Cys565Tyr,pathogenic
O43511:p.Ser594Asn,benign
O43511:p.Ile605Val,benign
O43511:p.Val609Gly,benign
O43511:p.Ile621Thr,benign
O43511:p.Leu624Pro,benign
O43511:p.Ile629Thr,benign
O43511:p.Val653Ala,pathogenic
O43511:p.Ser666Phe,pathogenic
O43511:p.Phe667Cys,pathogenic
O43511:p.Val670Ile,benign
O43511:p.Gly672Glu,pathogenic
O43511:p.Arg674Lys,benign
O43511:p.Leu676Gln,pathogenic
O43511:p.Ser694Pro,pathogenic
O43511:p.Tyr698His,benign
O43511:p.Thr721Met,pathogenic
O43511:p.His723Arg,pathogenic
O43511:p.Asp724Asn,pathogenic
O43511:p.Ser735Cys,benign
O43511:p.Glu737Gly,benign
O43511:p.Glu737Lys,benign
O43511:p.Gly740Asp,benign
O43511:p.Thr745Ala,benign
O43511:p.Thr747Ala,benign
O43511:p.Cys752Arg,benign
O43511:p.Thr755Pro,benign
O43511:p.Thr761Ala,benign
O43511:p.Met775Thr,pathogenic
O43511:p.Ser780Thr,benign
P02458:p.Met1Cys,benign
P02458:p.Ile2Ala,benign
P02458:p.Ile2Pro,benign
P02458:p.Ile2Thr,benign
P02458:p.Ile2Val,benign
P02458:p.Arg3Ala,benign
P02458:p.Arg3Leu,benign
P02458:p.Leu4Phe,benign
P02458:p.Gly5Arg,benign
P02458:p.Ala6Thr,benign
P02458:p.Pro7Leu,benign
P02458:p.Pro7Ser,benign
P02458:p.Gln8Pro,benign
P02458:p.Gln8Arg,benign
P02458:p.Thr9Lys,benign
P02458:p.Thr9Met,benign
P02458:p.Thr9Ser,benign
P02458:p.Leu10Trp,benign
P02458:p.Thr14Ala,benign
P02458:p.Thr14Ser,benign
P02458:p.Val17Ala,benign
P02458:p.Val17Ile,benign
P02458:p.Val17Leu,benign
P02458:p.Ala19Thr,benign
P02458:p.Val20Ala,benign
P02458:p.Leu21Glu,benign
P02458:p.Arg22Lys,benign
P02458:p.Arg22Gln,benign
P02458:p.Cys23Ala,benign
P02458:p.Cys23Ser,benign
P02458:p.Gln24His,benign
P02458:p.Gly25Ala,benign
P02458:p.Gly25Ser,benign
P02458:p.Gln26Leu,benign
P02458:p.Gln26Arg,benign
P02458:p.Asp27Glu,benign
P02458:p.Val28Ala,benign
P02458:p.Val28Asp,benign
P02458:p.Val28Ile,benign
P02458:p.Val28Leu,benign
P02458:p.Val28Ser,benign
P02458:p.Gln29Glu,benign
P02458:p.Gln29His,benign
P02458:p.Gln29Ile,benign
P02458:p.Glu30Asp,benign
P02458:p.Glu30Lys,benign
P02458:p.Glu30Gln,benign
P02458:p.Ala31Gly,benign
P02458:p.Ala31Asn,benign
P02458:p.Ala31Pro,benign
P02458:p.Ala31Thr,benign
P02458:p.Gly32Arg,benign
P02458:p.Ser33Gly,benign
P02458:p.Ser33Asn,benign
P02458:p.Val35Glu,benign
P02458:p.Val35Phe,benign
P02458:p.Val35Leu,benign
P02458:p.Val35Met,benign
P02458:p.Asp37Glu,benign
P02458:p.Asp37Asn,benign
P02458:p.Asp37Ser,benign
P02458:p.Gln39Glu,benign
P02458:p.Gln39Lys,benign
P02458:p.Gln39Asn,benign
P02458:p.Gln39Arg,benign
P02458:p.Arg40Ile,benign
P02458:p.Arg40Ser,benign
P02458:p.Arg40Trp,benign
P02458:p.Asn42Asp,benign
P02458:p.Asn42Lys,benign
P02458:p.Asp43Asn,benign
P02458:p.Lys44Asn,benign
P02458:p.Trp47Arg,benign
P02458:p.Lys48Arg,benign
P02458:p.Pro49Lys,benign
P02458:p.Glu50Ser,benign
P02458:p.Glu50Thr,benign
P02458:p.Pro51Ala,benign
P02458:p.Pro51Ser,benign
P02458:p.Cys52Ala,benign
P02458:p.Arg53Lys,benign
P02458:p.Arg53Gln,benign
P02458:p.Ile54Val,benign
P02458:p.Cys57Tyr,pathogenic
P02458:p.Thr59Asp,benign
P02458:p.Thr59Ser,benign
P02458:p.Thr61Phe,benign
P02458:p.Thr61Asn,benign
P02458:p.Val62Ile,benign
P02458:p.Ile67Val,benign
P02458:p.Ile68Phe,benign
P02458:p.Ile68Val,benign
P02458:p.Asp71Glu,benign
P02458:p.Val72Ala,benign
P02458:p.Val72Lys,benign
P02458:p.Val72Met,benign
P02458:p.Val72Pro,benign
P02458:p.Val72Ser,benign
P02458:p.Val72Thr,benign
P02458:p.Asp74Asn,benign
P02458:p.Ser77Lys,benign
P02458:p.Ser77Asn,benign
P02458:p.Ser77Arg,benign
P02458:p.Pro78Ala,benign
P02458:p.Pro78Thr,benign
P02458:p.Ile80Thr,benign
P02458:p.Ile80Val,benign
P02458:p.Ile88Val,benign
P02458:p.Pro90Ser,benign
P02458:p.Thr91Ala,benign
P02458:p.Thr91Glu,benign
P02458:p.Asp92Glu,benign
P02458:p.Leu93Ala,benign
P02458:p.Ala94Asp,benign
P02458:p.Ala94Pro,benign
P02458:p.Ala94Ser,benign
P02458:p.Ala94Thr,benign
P02458:p.Thr95Asp,benign
P02458:p.Thr95Pro,benign
P02458:p.Thr95Arg,benign
P02458:p.Ala96Leu,benign
P02458:p.Ala96Arg,benign
P02458:p.Ala96Thr,benign
P02458:p.Ser97Gly,benign
P02458:p.Ser97Asn,benign
P02458:p.Ser97Pro,benign
P02458:p.Gly98Leu,benign
P02458:p.Gly98Arg,benign
P02458:p.Gly98Trp,benign
P02458:p.Gln99Phe,benign
P02458:p.Gln99His,benign
P02458:p.Gln99Lys,benign
P02458:p.Gln99Pro,benign
P02458:p.Gln99Arg,benign
P02458:p.Gln99Thr,benign
P02458:p.Pro100His,benign
P02458:p.Pro100Ile,benign
P02458:p.Pro100Lys,benign
P02458:p.Pro100Leu,benign
P02458:p.Pro100Gln,benign
P02458:p.Gly101Ser,benign
P02458:p.Pro102His,benign
P02458:p.Pro102Leu,benign
P02458:p.Lys103Leu,benign
P02458:p.Lys103Arg,benign
P02458:p.Gly104Ala,benign
P02458:p.Gly104Leu,benign
P02458:p.Gly104Ser,benign
P02458:p.Gly104Thr,benign
P02458:p.Gln105Glu,benign
P02458:p.Gln105Asn,benign
P02458:p.Gln105Arg,benign
P02458:p.Gln105Trp,benign
P02458:p.Lys106Ala,benign
P02458:p.Lys106Pro,benign
P02458:p.Lys106Arg,benign
P02458:p.Lys106Thr,benign
P02458:p.Gly107Ala,benign
P02458:p.Gly107Pro,benign
P02458:p.Gly107Ser,benign
P02458:p.Glu108Ala,benign
P02458:p.Glu108Ser,benign
P02458:p.Glu108Tyr,benign
P02458:p.Pro109Cys,benign
P02458:p.Gly110Ser,benign
P02458:p.Gly110Thr,benign
P02458:p.Gly110Trp,benign
P02458:p.Asp111Arg,benign
P02458:p.Asp111Ser,benign
P02458:p.Ile112Leu,benign
P02458:p.Ile112Val,benign
P02458:p.Lys113Ala,benign
P02458:p.Lys113Leu,benign
P02458:p.Lys113Arg,benign
P02458:p.Lys113Ser,benign
P02458:p.Asp114Ala,benign
P02458:p.Asp114Gly,benign
P02458:p.Asp114Gln,benign
P02458:p.Asp114Ser,benign
P02458:p.Ile115Val,benign
P02458:p.Val116Ile,benign
P02458:p.Val116Lys,benign
P02458:p.Val116Met,benign
P02458:p.Val116Thr,benign
P02458:p.Gly117Thr,benign
P02458:p.Pro118Ala,benign
P02458:p.Lys119Arg,benign
P02458:p.Lys119Ser,benign
P02458:p.Gly120Ser,benign
P02458:p.Pro121Ser,benign
P02458:p.Gly123Thr,benign
P02458:p.Gln125Pro,benign
P02458:p.Gly126Lys,benign
P02458:p.Pro127Asp,benign
P02458:p.Ala128Pro,benign
P02458:p.Ala128Thr,benign
P02458:p.Glu130Pro,benign
P02458:p.Gln131Lys,benign
P02458:p.Pro133Gln,benign
P02458:p.Arg134Lys,benign
P02458:p.Asp136Glu,benign
P02458:p.Arg137Pro,benign
P02458:p.Asp139Glu,benign
P02458:p.Lys140Ile,benign
P02458:p.Gly141Lys,benign
P02458:p.Glu142Ala,benign
P02458:p.Glu142Asp,benign
P02458:p.Ala145Pro,benign
P02458:p.Ala145Val,benign
P02458:p.Thr157Leu,benign
P02458:p.Asn160Leu,benign
P02458:p.Pro163Leu,benign
P02458:p.Pro164Ala,benign
P02458:p.Gly165Ala,benign
P02458:p.Pro167Ala,benign
P02458:p.Gly168Tyr,benign
P02458:p.Pro169His,benign
P02458:p.Pro169Leu,benign
P02458:p.Pro169Arg,benign
P02458:p.Pro170Ala,benign
P02458:p.Gly171Phe,benign
P02458:p.Pro172Thr,benign
P02458:p.Pro173Lys,benign
P02458:p.Pro173Ser,benign
P02458:p.Gly176Ile,benign
P02458:p.Gly176Thr,benign
P02458:p.Asn178Pro,benign
P02458:p.Met183Leu,benign
P02458:p.Gly185Ser,benign
P02458:p.Gly185Thr,benign
P02458:p.Phe187Tyr,benign
P02458:p.Asp188Glu,benign
P02458:p.Glu189Asp,benign
P02458:p.Leu196Met,benign
P02458:p.Ala217Ser,benign
P02458:p.Ser236Ala,benign
P02458:p.Met239Leu,benign
P02458:p.Gly240Asp,pathogenic
P02458:p.Pro245Ala,benign
P02458:p.Pro245Ser,benign
P02458:p.Pro245Thr,benign
P02458:p.Pro247Leu,benign
P02458:p.Pro247Ser,benign
P02458:p.Pro248Ala,benign
P02458:p.Pro251Ala,benign
P02458:p.Pro260Ala,benign
P02458:p.Ala263Pro,benign
P02458:p.Ala263Ser,benign
P02458:p.Gly267Asp,pathogenic
P02458:p.Pro268Leu,benign
P02458:p.Gly270Arg,pathogenic
P02458:p.Arg275Cys,pathogenic
P02458:p.Gly282Asp,pathogenic
P02458:p.Ala298Val,benign
P02458:p.Gly303Asp,pathogenic
P02458:p.Pro305Thr,benign
P02458:p.Val307Ala,benign
P02458:p.Ser311Asn,benign
P02458:p.Ser313Ala,benign
P02458:p.Pro314Ala,benign
P02458:p.Pro314Ser,benign
P02458:p.Asn317Ser,benign
P02458:p.Gly318Arg,pathogenic
P02458:p.Ser319Ala,benign
P02458:p.Ala340Thr,benign
P02458:p.Ala341Val,benign
P02458:p.Gly360Ser,benign
P02458:p.Lys374Arg,benign
P02458:p.Lys374Ser,benign
P02458:p.Gly375Arg,pathogenic
P02458:p.Ala388Gly,benign
P02458:p.Pro391Ala,benign
P02458:p.Pro391Ser,benign
P02458:p.Pro395Ala,benign
P02458:p.Pro395Ser,benign
P02458:p.Thr397Asn,benign
P02458:p.Ala404Val,benign
P02458:p.Ser407Ala,benign
P02458:p.Thr412Ala,benign
P02458:p.Thr412Ser,benign
P02458:p.Ala418Pro,benign
P02458:p.Gly447Ser,pathogenic
P02458:p.Gly453Ala,pathogenic
P02458:p.Gly453Asp,pathogenic
P02458:p.Gly453Val,pathogenic
P02458:p.Thr455Ala,benign
P02458:p.Thr455Met,benign
P02458:p.Ile460Val,benign
P02458:p.Glu466Asp,benign
P02458:p.Pro473Leu,benign
P02458:p.Pro473Thr,benign
P02458:p.Gly474Asp,benign
P02458:p.Ala476Thr,benign
P02458:p.Gly492Val,pathogenic
P02458:p.Ala493Gly,benign
P02458:p.Val500Ala,benign
P02458:p.Gly501Arg,pathogenic
P02458:p.Ile503Ala,benign
P02458:p.Ile503Phe,benign
P02458:p.Ile503Val,benign
P02458:p.Gly504Cys,pathogenic
P02458:p.Gly510Asp,pathogenic
P02458:p.Gly513Ser,pathogenic
P02458:p.Phe517Val,benign
P02458:p.Pro530Leu,benign
P02458:p.Ser536Ala,benign
P02458:p.Ser536Asn,benign
P02458:p.Ser536Val,benign
P02458:p.Ala539Thr,benign
P02458:p.Ala539Val,benign
P02458:p.Pro541Arg,benign
P02458:p.Ala544Pro,benign
P02458:p.Asp547Glu,benign
P02458:p.Asp547Val,pathogenic
P02458:p.Pro548Ile,benign
P02458:p.Pro548Asn,benign
P02458:p.Pro548Thr,benign
P02458:p.Arg565Cys,pathogenic
P02458:p.Val575Ile,benign
P02458:p.Val575Leu,benign
P02458:p.Ala580Ile,benign
P02458:p.Ala580Pro,benign
P02458:p.Pro581Ala,benign
P02458:p.Ala595Thr,benign
P02458:p.Asn611Ser,benign
P02458:p.Pro614Ala,benign
P02458:p.Ala617Gly,benign
P02458:p.Pro623Ala,benign
P02458:p.Ala647Ser,benign
P02458:p.Ala647Thr,benign
P02458:p.Ala650Ser,benign
P02458:p.Glu655Lys,benign
P02458:p.Leu667Phe,pathogenic
P02458:p.Pro670Thr,benign
P02458:p.Pro673Ala,benign
P02458:p.Pro673Thr,benign
P02458:p.Gly677Ala,benign
P02458:p.Gly677Ser,benign
P02458:p.Pro680Ala,benign
P02458:p.Pro680Gln,benign
P02458:p.Asp682Glu,benign
P02458:p.Val685Ile,benign
P02458:p.Val685Leu,benign
P02458:p.Pro686Ser,benign
P02458:p.Pro686Thr,benign
P02458:p.Pro697Ser,benign
P02458:p.Ser709Ala,benign
P02458:p.Ser709Asn,benign
P02458:p.Ser709Thr,benign
P02458:p.Ala712Pro,benign
P02458:p.Ala712Ser,benign
P02458:p.Ala712Thr,benign
P02458:p.Gly717Ser,pathogenic
P02458:p.Gly717Val,pathogenic
P02458:p.Pro718Ala,benign
P02458:p.Pro718Gly,benign
P02458:p.Pro718Ser,benign
P02458:p.Arg719Cys,pathogenic
P02458:p.Thr727Asn,benign
P02458:p.Pro730Ser,benign
P02458:p.Lys731Thr,benign
P02458:p.Ser734Ala,benign
P02458:p.Ser734Pro,benign
P02458:p.Pro736Ala,benign
P02458:p.Pro736Ser,benign
P02458:p.Ala737Asp,benign
P02458:p.Ala737Gly,benign
P02458:p.Ala737Thr,benign
P02458:p.Ala737Val,benign
P02458:p.Pro740Thr,benign
P02458:p.Ala761Ser,benign
P02458:p.Ala761Thr,benign
P02458:p.Gly771Ala,pathogenic
P02458:p.Gly771Asp,pathogenic
P02458:p.Gly774Ser,pathogenic
P02458:p.Gly780Arg,pathogenic
P02458:p.Gly784Val,benign
P02458:p.Leu787Met,benign
P02458:p.Gly795Arg,pathogenic
P02458:p.Val806Ala,benign
P02458:p.Pro809Ala,benign
P02458:p.Ala812Ser,benign
P02458:p.Ser814Ala,benign
P02458:p.Ser814Thr,benign
P02458:p.Ala815Thr,benign
P02458:p.Glu826Gln,benign
P02458:p.Thr827Ala,benign
P02458:p.Thr827Ile,benign
P02458:p.Pro830Trp,benign
P02458:p.Pro832Thr,benign
P02458:p.Ala833Ser,benign
P02458:p.Gly834Arg,benign
P02458:p.Phe835Ile,benign
P02458:p.Ala847Ile,benign
P02458:p.Ala847Pro,benign
P02458:p.Glu850Asp,benign
P02458:p.Gly852Lys,benign
P02458:p.Glu853Val,benign
P02458:p.Ala854Ser,benign
P02458:p.Gly855Ser,pathogenic
P02458:p.Gln856His,benign
P02458:p.Ala860Ser,benign
P02458:p.Ala862Asn,benign
P02458:p.Ala862Pro,benign
P02458:p.Ala862Arg,benign
P02458:p.Ala862Ser,benign
P02458:p.Ala862Val,benign
P02458:p.Gly864Gln,benign
P02458:p.Pro865Ala,benign
P02458:p.Pro865Glu,benign
P02458:p.Pro865Leu,benign
P02458:p.Pro865Ser,benign
P02458:p.Gln866Leu,benign
P02458:p.Gly867Ser,benign
P02458:p.Pro868Leu,benign
P02458:p.Ser869Gln,benign
P02458:p.Ser869Thr,benign
P02458:p.Gly870Val,benign
P02458:p.Ala871Leu,benign
P02458:p.Pro872Leu,benign
P02458:p.Gly873Pro,benign
P02458:p.Pro874Ser,benign
P02458:p.Ala886Ser,benign
P02458:p.Gly891Arg,pathogenic
P02458:p.Gly894Glu,pathogenic
P02458:p.Gly897Val,pathogenic
P02458:p.Arg904Cys,pathogenic
P02458:p.Gly909Cys,pathogenic
P02458:p.Ser910Ala,benign
P02458:p.Asn913Ser,benign
P02458:p.Pro914Ala,benign
P02458:p.Gly915Thr,benign
P02458:p.Pro917Ala,benign
P02458:p.Pro917Thr,benign
P02458:p.Pro919Val,benign
P02458:p.Pro920His,benign
P02458:p.Ser923Ala,benign
P02458:p.Asp926Glu,benign
P02458:p.Ala931Ser,benign
P02458:p.Ala931Val,benign
P02458:p.Ser935Gly,benign
P02458:p.Ser935Ile,benign
P02458:p.Ser935Thr,benign
P02458:p.Pro937Ala,benign
P02458:p.Pro937Ser,benign
P02458:p.Pro938Ala,benign
P02458:p.Pro938Gln,benign
P02458:p.Pro938Ser,benign
P02458:p.Glu943Asp,benign
P02458:p.Pro944Thr,benign
P02458:p.Gly948Asp,pathogenic
P02458:p.Ala950Ser,benign
P02458:p.Pro952Ala,benign
P02458:p.Pro952Ser,benign
P02458:p.Pro952Thr,benign
P02458:p.Pro953Ser,benign
P02458:p.Glu955Asp,benign
P02458:p.Glu955Leu,benign
P02458:p.Glu958Asp,benign
P02458:p.Asp961Glu,benign
P02458:p.Asp962Glu,benign
P02458:p.Asp962Ser,benign
P02458:p.Pro964Ala,benign
P02458:p.Ser965Ala,benign
P02458:p.Ser965Pro,benign
P02458:p.Ala967Leu,benign
P02458:p.Ala967Pro,benign
P02458:p.Ala967Ser,benign
P02458:p.Ala967Val,benign
P02458:p.Glu968Asp,benign
P02458:p.Gly969Ser,pathogenic
P02458:p.Gly981Ser,pathogenic
P02458:p.Arg989Cys,pathogenic
P02458:p.Arg992Gly,pathogenic
P02458:p.Ser1001Trp,benign
P02458:p.Ala1012Ser,benign
P02458:p.Gly1017Val,pathogenic
P02458:p.Thr1028Ser,benign
P02458:p.Ala1031Ser,benign
P02458:p.Ser1039Thr,benign
P02458:p.Pro1046Ser,benign
P02458:p.Ala1051Thr,benign
P02458:p.Ala1051Val,benign
P02458:p.Asp1057Glu,benign
P02458:p.Glu1060Asp,benign
P02458:p.Thr1061Ala,benign
P02458:p.Ala1063Pro,benign
P02458:p.Val1064Ala,benign
P02458:p.Val1064Leu,benign
P02458:p.Gly1065Val,pathogenic
P02458:p.Ala1066Gly,benign
P02458:p.Pro1067Ser,benign
P02458:p.Ala1069Ser,benign
P02458:p.Ala1069Thr,benign
P02458:p.Pro1072Ala,benign
P02458:p.Pro1072Ser,benign
P02458:p.Ser1075Ala,benign
P02458:p.Pro1076Ser,benign
P02458:p.Ala1079Ser,benign
P02458:p.Ala1079Thr,benign
P02458:p.Thr1082Ile,benign
P02458:p.Thr1082Val,benign
P02458:p.Asp1087Glu,benign
P02458:p.Glu1090Asp,benign
P02458:p.Ala1091Pro,benign
P02458:p.Ala1091Ser,benign
P02458:p.Ala1091Thr,benign
P02458:p.Gly1092Ser,benign
P02458:p.Gly1095Ala,benign
P02458:p.Ser1100Ala,benign
P02458:p.Ile1108Leu,benign
P02458:p.Ile1108Met,benign
P02458:p.Gln1109Ala,benign
P02458:p.Gln1109Pro,benign
P02458:p.Gly1110Cys,pathogenic
P02458:p.Gly1119Arg,pathogenic
P02458:p.Ala1121Ser,benign
P02458:p.Ala1121Thr,benign
P02458:p.Pro1124Ala,benign
P02458:p.Pro1124Gln,benign
P02458:p.Leu1129Val,benign
P02458:p.Gly1143Ser,pathogenic
P02458:p.Ser1148Ala,benign
P02458:p.Ala1153Thr,benign
P02458:p.Ser1154Ala,benign
P02458:p.Gly1158Ala,pathogenic
P02458:p.Val1169Ile,benign
P02458:p.Gly1170Ser,pathogenic
P02458:p.Gly1173Arg,pathogenic
P02458:p.Gly1176Ser,pathogenic
P02458:p.Ala1177Ser,benign
P02458:p.Gly1188Arg,pathogenic
P02458:p.Gly1197Ser,pathogenic
P02458:p.Ala1199Val,benign
P02458:p.Asn1204Lys,benign
P02458:p.Asn1204Ser,benign
P02458:p.Asn1204Thr,benign
P02458:p.Pro1228Ala,benign
P02458:p.Pro1228Gly,benign
P02458:p.Pro1228Gln,benign
P02458:p.Leu1236Met,benign
P02458:p.Arg1240Gln,benign
P02458:p.Gln1243Glu,benign
P02458:p.Ala1244Pro,benign
P02458:p.Ala1245Asp,benign
P02458:p.Ala1245Gly,benign
P02458:p.Gly1246Asp,benign
P02458:p.Gly1246Ser,benign
P02458:p.Gly1247Ala,benign
P02458:p.Gly1247Asp,benign
P02458:p.Gly1247Asn,benign
P02458:p.Gly1247Ser,benign
P02458:p.Gly1247Thr,benign
P02458:p.Gln1250Pro,benign
P02458:p.Ala1253Glu,benign
P02458:p.Ala1253Val,benign
P02458:p.Glu1254Asp,benign
P02458:p.Asp1256Glu,benign
P02458:p.Ser1268Asn,benign
P02458:p.Ile1269Leu,benign
P02458:p.Glu1273Asp,benign
P02458:p.Arg1284Gln,benign
P02458:p.Lys1287Gln,benign
P02458:p.His1290Leu,benign
P02458:p.Glu1292Ala,benign
P02458:p.Glu1292Asp,benign
P02458:p.Trp1293Phe,benign
P02458:p.Trp1293Gly,benign
P02458:p.Trp1293Arg,benign
P02458:p.Lys1294Pro,benign
P02458:p.Lys1294Thr,benign
P02458:p.Ser1295Ala,benign
P02458:p.Ser1295Gly,benign
P02458:p.Ser1295Pro,benign
P02458:p.Ser1295Arg,benign
P02458:p.Ser1295Thr,benign
P02458:p.Asp1301Glu,benign
P02458:p.Met1317Leu,benign
P02458:p.Glu1318Asp,benign
P02458:p.Glu1321Gln,benign
P02458:p.Asn1327Arg,benign
P02458:p.Asn1327Ser,benign
P02458:p.Asn1330Ser,benign
P02458:p.Asn1330Thr,benign
P02458:p.Lys1333Arg,benign
P02458:p.Ser1338Gly,benign
P02458:p.Ser1338Asn,benign
P02458:p.Ser1339Thr,benign
P02458:p.Lys1340Asp,benign
P02458:p.Lys1340Arg,benign
P02458:p.Ser1341Gly,benign
P02458:p.Ser1341Asn,benign
P02458:p.Ser1341Thr,benign
P02458:p.Lys1342Gln,benign
P02458:p.Glu1343Asp,benign
P02458:p.Glu1343Lys,benign
P02458:p.Lys1344Gln,benign
P02458:p.Lys1344Arg,benign
P02458:p.Lys1345Gln,benign
P02458:p.Lys1345Arg,benign
P02458:p.Ile1347Val,benign
P02458:p.Ile1353Met,benign
P02458:p.Ile1353Val,benign
P02458:p.Asn1354His,benign
P02458:p.Asn1354Ser,benign
P02458:p.Ser1360Gly,benign
P02458:p.Asp1364Gly,benign
P02458:p.Asp1364Ser,benign
P02458:p.Asn1365His,benign
P02458:p.Asn1365Ser,benign
P02458:p.Asn1365Thr,benign
P02458:p.Ala1367Pro,benign
P02458:p.Pro1368Ala,benign
P02458:p.Asn1372Ser,benign
P02458:p.Val1373Ile,benign
P02458:p.Ser1386Ala,benign
P02458:p.Ser1386Phe,benign
P02458:p.Thr1390Asn,pathogenic
P02458:p.Tyr1391Cys,pathogenic
P02458:p.Lys1394Arg,benign
P02458:p.Asn1395Asp,benign
P02458:p.Ile1397Val,benign
P02458:p.Leu1400Met,benign
P02458:p.Ala1403Thr,benign
P02458:p.Ala1403Val,benign
P02458:p.Ala1404Ser,benign
P02458:p.Ala1404Thr,benign
P02458:p.Asn1406His,benign
P02458:p.Asn1406Ser,benign
P02458:p.Lys1408Arg,benign
P02458:p.Ile1413Leu,benign
P02458:p.Ile1413Val,benign
P02458:p.Ile1421Met,benign
P02458:p.Thr1432Asn,benign
P02458:p.Thr1432Ser,benign
P02458:p.Ala1433Thr,benign
P02458:p.Ala1433Val,benign
P02458:p.Lys1435Met,benign
P02458:p.Lys1435Gln,benign
P02458:p.Lys1435Arg,benign
P02458:p.Gly1437Asp,benign
P02458:p.Thr1439Met,pathogenic
P02458:p.Lys1440Arg,benign
P02458:p.Gly1446Asp,benign
P02458:p.Lys1447Glu,benign
P02458:p.Lys1447Asn,benign
P02458:p.Lys1447Gln,benign
P02458:p.Thr1448Pro,pathogenic
P02458:p.Val1449Ile,benign
P02458:p.Val1449Lys,benign
P02458:p.Val1449Leu,benign
P02458:p.Val1449Met,benign
P02458:p.Val1449Thr,benign
P02458:p.Ser1454Thr,benign
P02458:p.Ile1462Val,benign
P02458:p.Ile1463Leu,benign
P02458:p.Ile1463Met,benign
P02458:p.Ile1463Thr,benign
P02458:p.Ile1465Phe,benign
P02458:p.Ala1466Ser,benign
P02458:p.Met1468Leu,benign
P02458:p.Asp1469His,pathogenic
P02458:p.Pro1473Ala,benign
P02458:p.Glu1474Asp,benign
P02458:p.Glu1474Gly,benign
P02458:p.Val1479Ala,benign
P02458:p.Asp1480Glu,benign
P02458:p.Ile1481Leu,benign
P02458:p.Val1484Ala,benign
P02458:p.Cys1485Gly,pathogenic
P08397:p.Ala8Thr,benign
P08397:p.Ala9Val,benign
P08397:p.Thr10Lys,benign
P08397:p.Ala11Val,benign
P08397:p.Met18Ile,pathogenic
P08397:p.Arg19Lys,benign
P08397:p.Arg22Cys,pathogenic
P08397:p.Gly24Ser,pathogenic
P08397:p.Arg26Cys,pathogenic
P08397:p.Arg26His,pathogenic
P08397:p.Ser28Asn,pathogenic
P08397:p.Ala31Pro,pathogenic
P08397:p.Ala31Thr,pathogenic
P08397:p.Gln34Lys,pathogenic
P08397:p.Gln34Pro,pathogenic
P08397:p.Gln34Arg,pathogenic
P08397:p.Thr35Met,pathogenic
P08397:p.Ala40Thr,benign
P08397:p.Thr41Met,benign
P08397:p.Leu42Ser,pathogenic
P08397:p.Ser45Leu,benign
P08397:p.Tyr46His,benign
P08397:p.Gly48Asp,benign
P08397:p.Gly48Ser,benign
P08397:p.Ala55Ser,pathogenic
P08397:p.Asp61Asn,pathogenic
P08397:p.Asp61Tyr,pathogenic
P08397:p.Thr78Pro,pathogenic
P08397:p.Glu80Gly,pathogenic
P08397:p.Leu81Pro,pathogenic
P08397:p.Leu85Arg,pathogenic
P08397:p.Glu86Val,pathogenic
P08397:p.Lys87Arg,benign
P08397:p.Val90Gly,pathogenic
P08397:p.Leu92Pro,pathogenic
P08397:p.Val93Phe,pathogenic
P08397:p.Ser96Phe,pathogenic
P08397:p.Lys98Arg,pathogenic
P08397:p.Asp99Gly,pathogenic
P08397:p.Asp99His,pathogenic
P08397:p.Asp99Asn,pathogenic
P08397:p.Gly111Arg,pathogenic
P08397:p.Ile113Thr,pathogenic
P08397:p.Ile113Val,benign
P08397:p.Arg116Gln,pathogenic
P08397:p.Arg116Trp,pathogenic
P08397:p.Asn118Cys,benign
P08397:p.Asn118Asp,benign
P08397:p.Asn118Thr,benign
P08397:p.Pro119Leu,pathogenic
P08397:p.His120Cys,benign
P08397:p.His120Tyr,benign
P08397:p.Ala122Gly,pathogenic
P08397:p.Val124Asp,pathogenic
P08397:p.Val130Ala,benign
P08397:p.Arg149Leu,pathogenic
P08397:p.Arg149Gln,pathogenic
P08397:p.Pro159Ser,benign
P08397:p.Arg164Lys,benign
P08397:p.Arg167Gln,pathogenic
P08397:p.Arg167Trp,pathogenic
P08397:p.Arg173Gln,pathogenic
P08397:p.Arg173Trp,pathogenic
P08397:p.Leu177Arg,pathogenic
P08397:p.Asp178Asn,pathogenic
P08397:p.Gln180Leu,benign
P08397:p.Thr190Ala,benign
P08397:p.Arg195Cys,pathogenic
P08397:p.His199Gln,benign
P08397:p.Arg201Gly,benign
P08397:p.Arg201Trp,pathogenic
P08397:p.Val202Leu,pathogenic
P08397:p.Val202Met,benign
P08397:p.His207Pro,benign
P08397:p.His207Arg,benign
P08397:p.Glu209Lys,pathogenic
P08397:p.Met212Val,pathogenic
P08397:p.Gly216Asp,pathogenic
P08397:p.Gln217His,pathogenic
P08397:p.Gln217Leu,pathogenic
P08397:p.Ala219Asp,pathogenic
P08397:p.Gly221Ala,benign
P08397:p.Val222Met,pathogenic
P08397:p.Glu223Lys,pathogenic
P08397:p.Arg225Gly,pathogenic
P08397:p.Arg225Gln,pathogenic
P08397:p.Gln229His,benign
P08397:p.Asp230Ala,benign
P08397:p.Leu234Met,benign
P08397:p.Gly236Cys,benign
P08397:p.Gly236Ser,pathogenic
P08397:p.Leu238Arg,pathogenic
P08397:p.Leu244Pro,pathogenic
P08397:p.Leu245Arg,pathogenic
P08397:p.Arg246Cys,benign
P08397:p.Cys247Phe,pathogenic
P08397:p.Cys247Arg,pathogenic
P08397:p.Ile248Leu,benign
P08397:p.Glu250Ala,pathogenic
P08397:p.Glu250Lys,pathogenic
P08397:p.Glu250Gln,pathogenic
P08397:p.Glu250Val,pathogenic
P08397:p.Ala252Thr,pathogenic
P08397:p.Ala252Val,pathogenic
P08397:p.Leu254Pro,pathogenic
P08397:p.His256Asn,pathogenic
P08397:p.His256Tyr,pathogenic
P08397:p.Gly260Asp,pathogenic
P08397:p.Cys261Tyr,pathogenic
P08397:p.Val267Met,pathogenic
P08397:p.Thr269Ile,pathogenic
P08397:p.Ala270Asp,pathogenic
P08397:p.Ala270Gly,pathogenic
P08397:p.Met271Leu,benign
P08397:p.Gly274Arg,pathogenic
P08397:p.Leu278Pro,pathogenic
P08397:p.Gly280Arg,pathogenic
P08397:p.Asp286Asn,benign
P08397:p.Ser288Ala,benign
P08397:p.Asp289Glu,benign
P08397:p.Ile291Met,benign
P08397:p.Glu293Asp,benign
P08397:p.Gln296His,benign
P08397:p.Glu310Asp,benign
P08397:p.Asp312Asn,benign
P08397:p.Gly326Glu,benign
P08397:p.Pro327Ala,benign
P08397:p.Ala330Thr,benign
P08397:p.Gln332Glu,benign
P08397:p.Gly335Asp,pathogenic
P08397:p.Gly335Ser,pathogenic
P08397:p.Ile336Val,benign
P08397:p.Asn340Thr,benign
P08397:p.Leu343Pro,pathogenic
P08397:p.Ser344Asn,benign
P08397:p.Val353Ile,benign
P78363:p.Arg5Lys,benign
P78363:p.Leu11Pro,pathogenic
P78363:p.Arg18Trp,pathogenic
P78363:p.Ile23Lys,benign
P78363:p.Arg24Gly,benign
P78363:p.Arg24His,pathogenic
P78363:p.Phe25Val,benign
P78363:p.Val26Asp,benign
P78363:p.Val27Cys,benign
P78363:p.Glu28His,benign
P78363:p.Leu29Ser,benign
P78363:p.Val30His,benign
P78363:p.Val30Leu,benign
P78363:p.Pro32Ile,benign
P78363:p.Leu33Cys,benign
P78363:p.Ser34Phe,benign
P78363:p.Leu35Arg,benign
P78363:p.Phe36Ser,benign
P78363:p.Leu37Gln,benign
P78363:p.Val38Glu,benign
P78363:p.Val38Ile,benign
P78363:p.Leu39Ser,benign
P78363:p.Ile40Lys,benign
P78363:p.Leu42Asn,benign
P78363:p.Ala45Leu,benign
P78363:p.Pro47Ala,benign
P78363:p.Leu48Asn,benign
P78363:p.Tyr49Phe,benign
P78363:p.Ser50Gln,benign
P78363:p.His51Pro,benign
P78363:p.His51Gln,benign
P78363:p.His52Tyr,benign
P78363:p.Glu53Val,benign
P78363:p.Cys54Ile,benign
P78363:p.Cys54Tyr,pathogenic
P78363:p.Asn58Lys,pathogenic
P78363:p.Ala60Glu,pathogenic
P78363:p.Ala60Thr,pathogenic
P78363:p.Ala60Val,pathogenic
P78363:p.Gly65Glu,pathogenic
P78363:p.Pro68Leu,pathogenic
P78363:p.Pro68Arg,pathogenic
P78363:p.Gly72Arg,pathogenic
P78363:p.Ile73Val,benign
P78363:p.Cys75Gly,pathogenic
P78363:p.Val77Glu,pathogenic
P78363:p.Val77Met,benign
P78363:p.Ser84Asn,benign
P78363:p.Asn96Asp,pathogenic
P78363:p.Asn96His,pathogenic
P78363:p.Ser100Pro,pathogenic
P78363:p.Leu112Ile,benign
P78363:p.Leu113Val,benign
P78363:p.Asn115Lys,benign
P78363:p.Ala116Ser,benign
P78363:p.Pro117Arg,benign
P78363:p.Ser119Ala,benign
P78363:p.Gln120Ser,benign
P78363:p.His121Thr,benign
P78363:p.Gly123Ala,benign
P78363:p.Arg124His,benign
P78363:p.Arg124Ile,benign
P78363:p.Ile125Phe,benign
P78363:p.Trp126Gly,benign
P78363:p.Thr127Gln,benign
P78363:p.Glu128Lys,benign
P78363:p.His130Arg,benign
P78363:p.Ala147Thr,benign
P78363:p.Ile156Val,pathogenic
P78363:p.Thr164Ser,benign
P78363:p.Tyr179His,benign
P78363:p.Arg187Gln,benign
P78363:p.Gln190His,pathogenic
P78363:p.Ala192Thr,pathogenic
P78363:p.Ala199Thr,benign
P78363:p.Ser206Arg,pathogenic
P78363:p.Arg212Cys,pathogenic
P78363:p.Arg212His,benign
P78363:p.Arg220Cys,pathogenic
P78363:p.Lys223Gln,benign
P78363:p.Thr224Asn,benign
P78363:p.Cys230Ser,pathogenic
P78363:p.Leu244Pro,pathogenic
P78363:p.Asn247Ser,pathogenic
P78363:p.Asp249Gly,pathogenic
P78363:p.Arg255His,benign
P78363:p.Ile268Val,benign
P78363:p.Glu286Gln,benign
P78363:p.His289Arg,benign
P78363:p.Met293Val,benign
P78363:p.Thr300Asn,pathogenic
P78363:p.Met304Ile,benign
P78363:p.Pro309Arg,pathogenic
P78363:p.Glu328Val,pathogenic
P78363:p.Arg333Trp,pathogenic
P78363:p.Ser336Cys,pathogenic
P78363:p.Trp339Gly,pathogenic
P78363:p.Tyr340Asp,pathogenic
P78363:p.Ser353Thr,benign
P78363:p.Arg355Lys,benign
P78363:p.Arg364Lys,benign
P78363:p.Asn380Lys,pathogenic
P78363:p.Ala386Thr,benign
P78363:p.Thr401Ala,benign
P78363:p.Ala407Val,pathogenic
P78363:p.Arg409Lys,benign
P78363:p.Lys412Met,benign
P78363:p.His423Arg,benign
P78363:p.Val424Leu,benign
P78363:p.Ser445Arg,pathogenic
P78363:p.Thr454Ile,benign
P78363:p.Glu471Lys,pathogenic
P78363:p.Glu476Gln,benign
P78363:p.Ala477Pro,benign
P78363:p.Ala477Thr,benign
P78363:p.Arg487Gln,benign
P78363:p.Ser489Asn,benign
P78363:p.Ala491Thr,benign
P78363:p.Ala495Asp,benign
P78363:p.Phe497Leu,benign
P78363:p.Asp498Asn,benign
P78363:p.Asp501Tyr,benign
P78363:p.Ile502Val,benign
P78363:p.Ile505Val,benign
P78363:p.Thr506Ile,benign
P78363:p.Gln515Lys,benign
P78363:p.Asp523Glu,pathogenic
P78363:p.Phe525Cys,pathogenic
P78363:p.Ser527Asn,benign
P78363:p.Asn529Asp,benign
P78363:p.Arg537Cys,pathogenic
P78363:p.Leu541Pro,pathogenic
P78363:p.Met546Arg,benign
P78363:p.Ala549Pro,pathogenic
P78363:p.Gly550Arg,pathogenic
P78363:p.Ser561Asn,benign
P78363:p.Arg572Pro,pathogenic
P78363:p.Arg572Gln,pathogenic
P78363:p.Arg602Gln,pathogenic
P78363:p.Arg602Trp,pathogenic
P78363:p.Gly607Arg,pathogenic
P78363:p.Gly607Trp,pathogenic
P78363:p.Phe608Ile,pathogenic
P78363:p.Gln635Lys,pathogenic
P78363:p.Gln636His,pathogenic
P78363:p.Val643Met,pathogenic
P78363:p.Asp645Asn,pathogenic
P78363:p.Arg653Cys,pathogenic
P78363:p.Thr670Asn,benign
P78363:p.Thr685Asn,benign
P78363:p.Leu686Ser,pathogenic
P78363:p.Ser704Asn,benign
P78363:p.Met710Leu,benign
P78363:p.Thr716Met,pathogenic
P78363:p.Phe749Leu,benign
P78363:p.Leu760Val,benign
P78363:p.Ala762Glu,pathogenic
P78363:p.Cys764Tyr,pathogenic
P78363:p.Ser765Asn,pathogenic
P78363:p.Ser765Arg,pathogenic
P78363:p.Val767Asp,pathogenic
P78363:p.Val767Ile,benign
P78363:p.Ala781Thr,benign
P78363:p.Ala788Thr,benign
P78363:p.Leu797Pro,pathogenic
P78363:p.Glu807Asp,benign
P78363:p.Tyr808Leu,benign
P78363:p.Val810Cys,benign
P78363:p.Arg811Cys,benign
P78363:p.Arg811Gln,benign
P78363:p.Phe812Met,benign
P78363:p.Glu813Pro,benign
P78363:p.Glu814Pro,benign
P78363:p.Gln815Arg,benign
P78363:p.Gly816Ala,benign
P78363:p.Leu817Phe,benign
P78363:p.Gly818Glu,pathogenic
P78363:p.Gly818Pro,benign
P78363:p.Gln820Val,benign
P78363:p.Trp821Gln,benign
P78363:p.Trp821Arg,pathogenic
P78363:p.Asn823Lys,benign
P78363:p.Ile824Thr,pathogenic
P78363:p.Gly825Lys,benign
P78363:p.Asn826Tyr,benign
P78363:p.Ser827Ala,benign
P78363:p.Pro828Ser,benign
P78363:p.Thr829Leu,benign
P78363:p.Glu830Ser,benign
P78363:p.Asp832Leu,benign
P78363:p.Glu833Lys,benign
P78363:p.Glu833Gln,benign
P78363:p.Phe834Leu,benign
P78363:p.Ser835Phe,benign
P78363:p.Phe836Leu,benign
P78363:p.Leu837Ile,benign
P78363:p.Leu838Met,benign
P78363:p.Ser839Arg,benign
P78363:p.Met840Phe,benign
P78363:p.Met840Val,benign
P78363:p.Gln841Ser,benign
P78363:p.Met842Leu,benign
P78363:p.Met843Leu,benign
P78363:p.Leu845Cys,benign
P78363:p.Ala847Arg,benign
P78363:p.Ala848Glu,benign
P78363:p.Val849Ala,pathogenic
P78363:p.Val849Ile,benign
P78363:p.Val849Thr,benign
P78363:p.Tyr850Pro,benign
P78363:p.Gly851Asp,pathogenic
P78363:p.Gly851Ser,benign
P78363:p.Leu852Phe,benign
P78363:p.Leu852Thr,benign
P78363:p.Leu853Phe,benign
P78363:p.Ala854Ser,benign
P78363:p.Ala854Thr,pathogenic
P78363:p.Trp855Val,benign
P78363:p.Asp858Ser,benign
P78363:p.Val860Leu,benign
P78363:p.Pro862Leu,benign
P78363:p.Gly863Ala,pathogenic
P78363:p.Phe873Leu,pathogenic
P78363:p.Leu875Met,benign
P78363:p.Leu875Val,benign
P78363:p.Gly883Ser,benign
P78363:p.Thr897Ile,pathogenic
P78363:p.Leu900Val,benign
P78363:p.Thr904Met,benign
P78363:p.Asp906His,benign
P78363:p.Pro910Leu,benign
P78363:p.Glu911Gly,benign
P78363:p.Ile913Thr,benign
P78363:p.His914Tyr,benign
P78363:p.Arg920Leu,benign
P78363:p.Val926Ile,benign
P78363:p.Cys930Tyr,benign
P78363:p.Val931Met,pathogenic
P78363:p.Val935Ala,pathogenic
P78363:p.Ile937Thr,benign
P78363:p.Cys941Tyr,benign
P78363:p.Arg943Trp,pathogenic
P78363:p.Gln957Arg,pathogenic
P78363:p.Thr959Ile,pathogenic
P78363:p.Asn965Ser,pathogenic
P78363:p.Thr971Asn,pathogenic
P78363:p.Ser974Pro,pathogenic
P78363:p.Gly978Cys,pathogenic
P78363:p.Val989Ala,pathogenic
P78363:p.Val989Ile,benign
P78363:p.Gly991Arg,pathogenic
P78363:p.Arg992Met,benign
P78363:p.Thr996Ile,benign
P78363:p.Asp999Asn,benign
P78363:p.Val1001Ile,benign
P78363:p.Leu1014Arg,pathogenic
P78363:p.His1017Arg,benign
P78363:p.Thr1019Ala,pathogenic
P78363:p.Thr1019Met,pathogenic
P78363:p.Glu1022Lys,pathogenic
P78363:p.Met1024Ile,benign
P78363:p.Lys1031Glu,pathogenic
P78363:p.Gln1035Arg,benign
P78363:p.Gln1035Trp,benign
P78363:p.Glu1036Lys,pathogenic
P78363:p.Ala1038Val,pathogenic
P78363:p.Arg1055Trp,pathogenic
P78363:p.Ser1063Pro,pathogenic
P78363:p.Ser1071Leu,pathogenic
P78363:p.Val1072Ala,pathogenic
P78363:p.Ile1074Val,benign
P78363:p.Ile1084Val,benign
P78363:p.Glu1087Asp,pathogenic
P78363:p.Glu1087Lys,pathogenic
P78363:p.Gly1091Glu,pathogenic
P78363:p.Arg1097Cys,pathogenic
P78363:p.Arg1108Cys,pathogenic
P78363:p.Arg1108His,pathogenic
P78363:p.Arg1108Leu,pathogenic
P78363:p.Thr1112Asn,pathogenic
P78363:p.Ile1114Val,benign
P78363:p.Glu1122Lys,pathogenic
P78363:p.Arg1129Cys,pathogenic
P78363:p.Arg1129Leu,pathogenic
P78363:p.Gln1169His,benign
P78363:p.Lys1171Arg,benign
P78363:p.Gly1172Asp,benign
P78363:p.Ser1180Ala,benign
P78363:p.Gly1183Ser,benign
P78363:p.Pro1189Ser,benign
P78363:p.Val1192Phe,benign
P78363:p.Asp1193Asn,benign
P78363:p.Asp1193Ser,benign
P78363:p.Asp1194Asn,benign
P78363:p.Leu1201Arg,pathogenic
P78363:p.Asp1204Asn,pathogenic
P78363:p.Val1216Ile,benign
P78363:p.Lys1220Thr,benign
P78363:p.Asn1235Ser,benign
P78363:p.His1240Gln,benign
P78363:p.Leu1250Pro,pathogenic
P78363:p.Thr1253Met,benign
P78363:p.Ile1264Val,benign
P78363:p.Asp1281Gly,benign
P78363:p.Ala1287Met,benign
P78363:p.Ala1287Thr,benign
P78363:p.Ala1290Thr,benign
P78363:p.Asn1296Lys,benign
P78363:p.Val1297Ile,benign
P78363:p.Val1297Thr,benign
P78363:p.Asn1298His,benign
P78363:p.Pro1299Leu,benign
P78363:p.Arg1300Gln,pathogenic
P78363:p.His1301Arg,benign
P78363:p.Pro1302Leu,benign
P78363:p.Pro1306Leu,benign
P78363:p.Lys1309Asn,benign
P78363:p.Ala1310Thr,benign
P78363:p.Gly1311Arg,benign
P78363:p.Thr1313Ile,benign
P78363:p.Asn1318Asp,benign
P78363:p.Val1319Cys,benign
P78363:p.Cys1320Phe,benign
P78363:p.Ala1324Ser,benign
P78363:p.Ala1326Gly,benign
P78363:p.Pro1329Leu,benign
P78363:p.Pro1334Ser,benign
P78363:p.Glu1336Gly,benign
P78363:p.Pro1342Leu,benign
P78363:p.Thr1348Ala,benign
P78363:p.Gln1349Arg,benign
P78363:p.Leu1352Phe,benign
P78363:p.Val1355Leu,benign
P78363:p.Val1360Leu,benign
P78363:p.Phe1363Leu,benign
P78363:p.Val1378Ile,benign
P78363:p.Pro1380Leu,pathogenic
P78363:p.Leu1388Pro,pathogenic
P78363:p.Val1393Ile,benign
P78363:p.Glu1399Lys,pathogenic
P78363:p.Ala1402Gly,benign
P78363:p.His1406Tyr,pathogenic
P78363:p.Trp1408Leu,pathogenic
P78363:p.Trp1408Arg,pathogenic
P78363:p.Ile1409Met,benign
P78363:p.Gln1412His,benign
P78363:p.Gly1423Ser,benign
P78363:p.Phe1427Leu,benign
P78363:p.Thr1428Ala,benign
P78363:p.Thr1428Met,pathogenic
P78363:p.Val1429Ala,pathogenic
P78363:p.Leu1430Pro,pathogenic
P78363:p.Val1433Ile,pathogenic
P78363:p.Asn1436Ser,benign
P78363:p.Gly1439Asp,pathogenic
P78363:p.Phe1440Ser,pathogenic
P78363:p.Phe1440Val,pathogenic
P78363:p.Arg1443His,pathogenic
P78363:p.Lys1446Arg,benign
P78363:p.Ile1470Val,benign
P78363:p.Gln1481Glu,benign
P78363:p.Val1482Ala,benign
P78363:p.Pro1486Leu,pathogenic
P78363:p.Cys1488Phe,pathogenic
P78363:p.Cys1488Arg,pathogenic
P78363:p.Cys1488Tyr,pathogenic
P78363:p.Cys1490Tyr,pathogenic
P78363:p.Gly1508Cys,pathogenic
P78363:p.Gln1513Arg,pathogenic
P78363:p.Arg1517Gln,benign
P78363:p.Arg1517Ser,pathogenic
P78363:p.Leu1525Pro,pathogenic
P78363:p.Thr1526Met,pathogenic
P78363:p.Ile1530Val,benign
P78363:p.Asp1532Asn,pathogenic
P78363:p.Thr1537Met,pathogenic
P78363:p.Ile1560Val,benign
P78363:p.Ile1562Thr,pathogenic
P78363:p.Ile1562Val,benign
P78363:p.Val1568Ala,benign
P78363:p.Val1569Ile,benign
P78363:p.Ile1571Val,benign
P78363:p.Ala1575Thr,benign
P78363:p.Gly1578Arg,pathogenic
P78363:p.Arg1585Gln,benign
P78363:p.Ile1594Val,benign
P78363:p.Ala1598Asp,pathogenic
P78363:p.Asp1604Ala,benign
P78363:p.Lys1607Gln,benign
P78363:p.Asp1613Glu,benign
P78363:p.Leu1631Pro,pathogenic
P78363:p.Ile1638Val,benign
P78363:p.Arg1640Gln,pathogenic
P78363:p.Arg1640Trp,pathogenic
P78363:p.Ser1648Asn,benign
P78363:p.Tyr1652Asp,pathogenic
P78363:p.Val1656Ile,benign
P78363:p.Ser1689Pro,pathogenic
P78363:p.Val1693Ile,pathogenic
P78363:p.Ser1696Asn,pathogenic
P78363:p.Gln1703Lys,pathogenic
P78363:p.Arg1705Leu,pathogenic
P78363:p.Thr1721Ile,benign
P78363:p.Trp1724Cys,pathogenic
P78363:p.Leu1729Pro,pathogenic
P78363:p.Met1733Thr,pathogenic
P78363:p.Ser1736Ala,benign
P78363:p.Ser1736Pro,pathogenic
P78363:p.Ser1736Thr,benign
P78363:p.Val1737Ile,benign
P78363:p.Ile1747Val,benign
P78363:p.Gly1748Arg,pathogenic
P78363:p.Leu1763Pro,pathogenic
P78363:p.Pro1776Leu,pathogenic
P78363:p.Pro1780Ala,pathogenic
P78363:p.Ala1794Asp,pathogenic
P78363:p.Asn1799Asp,pathogenic
P78363:p.Asn1805Asp,pathogenic
P78363:p.Ser1807Ile,benign
P78363:p.Ala1808Trp,benign
P78363:p.Ile1809Leu,benign
P78363:p.Thr1810Gln,benign
P78363:p.Phe1811Gly,benign
P78363:p.Glu1814Ser,benign
P78363:p.Leu1815Val,benign
P78363:p.Phe1816Cys,benign
P78363:p.Glu1817Arg,benign
P78363:p.Asn1818Pro,benign
P78363:p.Asn1819Ser,benign
P78363:p.Arg1820Pro,pathogenic
P78363:p.Arg1820Gln,benign
P78363:p.Thr1821Met,benign
P78363:p.Arg1830Lys,benign
P78363:p.Val1835Ile,benign
P78363:p.His1838Tyr,pathogenic
P78363:p.Arg1843Trp,pathogenic
P78363:p.Ile1846Thr,benign
P78363:p.Ala1859Thr,benign
P78363:p.Gly1862Ser,benign
P78363:p.Glu1864Lys,benign
P78363:p.Val1883Leu,benign
P78363:p.Val1884Ala,benign
P78363:p.Val1884Glu,pathogenic
P78363:p.Glu1885Lys,pathogenic
P78363:p.Gly1886Glu,pathogenic
P78363:p.Leu1895Met,benign
P78363:p.Val1896Asp,pathogenic
P78363:p.Arg1898His,pathogenic
P78363:p.Glu1908Asp,benign
P78363:p.Glu1908Gln,benign
P78363:p.Thr1910Pro,benign
P78363:p.Glu1912Gly,benign
P78363:p.Val1915Ala,benign
P78363:p.Ile1928Val,benign
P78363:p.Asn1933Ser,benign
P78363:p.Thr1935Asn,benign
P78363:p.Leu1940Pro,pathogenic
P78363:p.His1941Gln,benign
P78363:p.His1941Tyr,benign
P78363:p.Thr1944Ser,benign
P78363:p.Pro1948Ser,benign
P78363:p.Pro1953Ala,benign
P78363:p.Val1960Ile,benign
P78363:p.Gly1961Glu,pathogenic
P78363:p.Pro1964Ala,benign
P78363:p.Leu1970Phe,pathogenic
P78363:p.Leu1971Arg,pathogenic
P78363:p.Gly1975Arg,pathogenic
P78363:p.Gly1977Ser,pathogenic
P78363:p.Leu1985Ile,benign
P78363:p.Asp1995Val,benign
P78363:p.Val1998Ile,benign
P78363:p.Leu2026Met,benign
P78363:p.Leu2027Phe,pathogenic
P78363:p.Arg2030Gln,pathogenic
P78363:p.Leu2035Phe,benign
P78363:p.Leu2035Pro,pathogenic
P78363:p.Arg2038Trp,pathogenic
P78363:p.Ile2047Asn,pathogenic
P78363:p.Val2050Leu,pathogenic
P78363:p.Leu2060Arg,pathogenic
P78363:p.Val2062Ala,benign
P78363:p.Val2062Ile,benign
P78363:p.Tyr2071Phe,pathogenic
P78363:p.Arg2077Gly,pathogenic
P78363:p.Arg2077Trp,pathogenic
P78363:p.Val2092Leu,benign
P78363:p.Glu2096Lys,pathogenic
P78363:p.Arg2106Cys,pathogenic
P78363:p.Arg2107Cys,pathogenic
P78363:p.Arg2107His,pathogenic
P78363:p.Val2114Met,benign
P78363:p.Gly2120Arg,benign
P78363:p.His2128Arg,pathogenic
P78363:p.Ser2129Arg,benign
P78363:p.Met2130Gln,benign
P78363:p.Glu2131Lys,pathogenic
P78363:p.Cys2137Tyr,pathogenic
P78363:p.Arg2139Trp,pathogenic
P78363:p.Gly2146Asp,pathogenic
P78363:p.Arg2149Leu,pathogenic
P78363:p.Cys2150Arg,pathogenic
P78363:p.Cys2150Tyr,pathogenic
P78363:p.Ile2154Met,benign
P78363:p.Lys2160Arg,pathogenic
P78363:p.Ile2166Phe,benign
P78363:p.Lys2175Arg,benign
P78363:p.Asp2177Asn,benign
P78363:p.Leu2229Pro,pathogenic
P78363:p.Ile2231Met,benign
P78363:p.Gln2238Pro,benign
P78363:p.Leu2241Val,pathogenic
P78363:p.Thr2253Asn,benign
P78363:p.Ser2255Ile,benign
P78363:p.Arg2263Leu,pathogenic
P78363:p.Arg2269Gln,benign
P78363:p.Gln2270Ala,benign
P78363:p.Ala2271Gly,benign
P78363:p.Ala2271Ser,benign
P78363:p.Gln2272Arg,benign
P78363:p.Asp2273Pro,benign
P78363:p.Asp2273Gln,benign
P78363:p.Asp2273Val,benign
P04424:p.Ser3Gly,benign
P04424:p.Glu4Gln,benign
P04424:p.Ala26Ser,benign
P04424:p.Ala26Thr,benign
P04424:p.Ala29Asn,benign
P04424:p.Ala29Thr,benign
P04424:p.Asp31Asn,pathogenic
P04424:p.Arg32Gln,benign
P04424:p.His33Gln,benign
P04424:p.Val37Met,benign
P04424:p.Val39Ile,benign
P04424:p.Lys43Arg,benign
P04424:p.Ala44Gly,benign
P04424:p.Glu50Gln,benign
P04424:p.Lys57Met,benign
P04424:p.Met60Arg,benign
P04424:p.Gln62Lys,benign
P04424:p.Gln62Arg,benign
P04424:p.His65Cys,benign
P04424:p.His65Gln,benign
P04424:p.His65Arg,benign
P04424:p.Val70Ala,pathogenic
P04424:p.Gly77Cys,benign
P04424:p.Asn82His,benign
P04424:p.Asn82Ser,benign
P04424:p.Ser83Pro,benign
P04424:p.Arg94Cys,pathogenic
P04424:p.Arg94His,pathogenic
P04424:p.Arg95Cys,pathogenic
P04424:p.Arg95His,pathogenic
P04424:p.Ala102Glu,benign
P04424:p.Ala104Val,pathogenic
P04424:p.Arg111Trp,pathogenic
P04424:p.Arg113Gln,pathogenic
P04424:p.Asp120Glu,pathogenic
P04424:p.Leu121His,pathogenic
P04424:p.Arg126Trp,pathogenic
P04424:p.Gln127Arg,benign
P04424:p.Thr128Met,benign
P04424:p.Thr128Asn,benign
P04424:p.Thr131Ala,benign
P04424:p.Thr131Lys,benign
P04424:p.Thr131Met,benign
P04424:p.Thr131Ser,benign
P04424:p.Ser133Cys,benign
P04424:p.Gly134Ala,benign
P04424:p.Gly134Asn,benign
P04424:p.Gly134Ser,benign
P04424:p.Gly134Thr,benign
P04424:p.Trp137Arg,benign
P04424:p.Glu138Ala,benign
P04424:p.Arg141Lys,benign
P04424:p.Arg146Trp,pathogenic
P04424:p.Arg151Cys,benign
P04424:p.Arg151Trp,benign
P04424:p.Val153Ile,benign
P04424:p.Pro156Arg,pathogenic
P04424:p.His160Asn,pathogenic
P04424:p.Pro166His,pathogenic
P04424:p.Arg168His,pathogenic
P04424:p.Ser170Asn,pathogenic
P04424:p.Val178Met,pathogenic
P04424:p.Leu180Arg,pathogenic
P04424:p.Arg182Gln,pathogenic
P04424:p.Arg186Gln,pathogenic
P04424:p.Glu189Gln,benign
P04424:p.Arg191Lys,benign
P04424:p.Arg191Gln,benign
P04424:p.Arg191Trp,pathogenic
P04424:p.Arg193Gln,pathogenic
P04424:p.Arg193Trp,pathogenic
P04424:p.Ile194Val,benign
P04424:p.Asn195Asp,benign
P04424:p.Ala205Val,pathogenic
P04424:p.Gly210Ser,benign
P04424:p.Val211Leu,benign
P04424:p.Arg213Gln,pathogenic
P04424:p.Arg217Gln,benign
P04424:p.Ala218Thr,benign
P04424:p.Asn221Lys,benign
P04424:p.Asn221Ser,benign
P04424:p.Gly223Arg,benign
P04424:p.Ala224Ser,benign
P04424:p.Ile225Val,benign
P04424:p.Leu227Pro,pathogenic
P04424:p.Ser229Arg,pathogenic
P04424:p.Ser229Thr,pathogenic
P04424:p.Asp231Glu,pathogenic
P04424:p.Ala232Gly,benign
P04424:p.Arg236Trp,pathogenic
P04424:p.Asp237Asn,pathogenic
P04424:p.Met250Thr,benign
P04424:p.Met256Thr,pathogenic
P04424:p.Leu262Pro,pathogenic
P04424:p.Cys264Gly,benign
P04424:p.Thr265Ser,benign
P04424:p.Ser269Gly,benign
P04424:p.Ser269Asn,benign
P04424:p.Ser281Thr,benign
P04424:p.Met284Arg,benign
P04424:p.Gln286Arg,pathogenic
P04424:p.Leu295Pro,pathogenic
P04424:p.Gly301Arg,pathogenic
P04424:p.Arg306Trp,pathogenic
P04424:p.Ala308Ser,benign
P04424:p.Leu310Val,benign
P04424:p.Asp324Ala,pathogenic
P04424:p.Gln326Leu,pathogenic
P04424:p.Val335Leu,pathogenic
P04424:p.Asp337Glu,benign
P04424:p.Met339Val,benign
P04424:p.Ser340Gly,benign
P04424:p.Ser340Thr,benign
P04424:p.Leu343Phe,pathogenic
P04424:p.Leu343Pro,pathogenic
P04424:p.Ile355Val,benign
P04424:p.His356Arg,benign
P04424:p.Gln357Arg,benign
P04424:p.Glu358Asp,benign
P04424:p.Gly361Ala,benign
P04424:p.Gly361Val,benign
P04424:p.Gln362Arg,benign
P04424:p.Met368Val,pathogenic
P04424:p.Arg379Cys,pathogenic
P04424:p.Lys380Glu,pathogenic
P04424:p.Met382Arg,pathogenic
P04424:p.Arg385Cys,pathogenic
P04424:p.Arg385His,pathogenic
P04424:p.Arg385Leu,pathogenic
P04424:p.His388Gln,pathogenic
P04424:p.Thr400Ser,benign
P04424:p.Gly402Glu,benign
P04424:p.Gln407Glu,benign
P04424:p.Gln411Lys,benign
P04424:p.Glu412Asp,benign
P04424:p.Thr415Ala,benign
P04424:p.Thr415Asn,benign
P04424:p.Thr415Ser,benign
P04424:p.Pro418His,benign
P04424:p.Pro418Ser,benign
P04424:p.Ser421Leu,benign
P04424:p.Gly422Ser,benign
P04424:p.Ile425Asn,benign
P04424:p.Ile425Ser,benign
P04424:p.Cys426His,benign
P04424:p.Cys426Gln,benign
P04424:p.Cys426Arg,benign
P04424:p.Gly431Arg,benign
P04424:p.Gly431Ser,benign
P04424:p.Ser433Arg,pathogenic
P04424:p.Val434Leu,pathogenic
P04424:p.Gly438Ala,benign
P04424:p.Gly438Ser,benign
P04424:p.Gly438Thr,benign
P04424:p.Ser446Ala,benign
P04424:p.Ser447Asn,pathogenic
P04424:p.Val448Ile,benign
P04424:p.Arg453Ala,benign
P04424:p.Arg453Cys,benign
P04424:p.Arg453Gly,benign
P04424:p.Arg453Ser,benign
P04424:p.Arg456Gln,pathogenic
P04424:p.Arg456Trp,pathogenic
P04424:p.Gln460Arg,benign
P04424:p.Ala461Thr,benign
P04424:p.Ala464Ser,benign
Q9H251:p.Gly2Arg,benign
Q9H251:p.Arg3Cys,benign
Q9H251:p.Arg3Tyr,benign
Q9H251:p.His4Pro,benign
Q9H251:p.Val5Thr,benign
Q9H251:p.Ala6Thr,benign
Q9H251:p.Ala6Val,benign
Q9H251:p.Thr7Ser,benign
Q9H251:p.Thr7Tyr,benign
Q9H251:p.Ser8Asn,benign
Q9H251:p.Ser8Thr,benign
Q9H251:p.Cys9Leu,benign
Q9H251:p.His10Ala,benign
Q9H251:p.His10Cys,benign
Q9H251:p.His10Gln,benign
Q9H251:p.Val11Ala,benign
Q9H251:p.Ala12Leu,benign
Q9H251:p.Ala12Val,benign
Q9H251:p.Leu15Phe,benign
Q9H251:p.Val16Met,benign
Q9H251:p.Ile18Val,benign
Q9H251:p.Cys21Ser,benign
Q9H251:p.Phe31Leu,benign
Q9H251:p.Asn33Ser,benign
Q9H251:p.Phe35Ile,benign
Q9H251:p.Asp37Pro,benign
Q9H251:p.Thr38Leu,benign
Q9H251:p.Tyr39Leu,benign
Q9H251:p.Leu40Ser,benign
Q9H251:p.Ile42Leu,benign
Q9H251:p.Ser43Ala,benign
Q9H251:p.Gln58Arg,benign
Q9H251:p.Asp124Gly,pathogenic
Q9H251:p.Pro174Ser,benign
Q9H251:p.Ala179Thr,benign
Q9H251:p.Arg184His,benign
Q9H251:p.Val187Ile,benign
Q9H251:p.Ile190Thr,benign
Q9H251:p.Thr197Val,benign
Q9H251:p.Ile235Val,benign
Q9H251:p.Pro240Leu,pathogenic
Q9H251:p.Glu247Lys,pathogenic
Q9H251:p.Ile257Val,benign
Q9H251:p.Ile261Val,benign
Q9H251:p.Val292Ala,benign
Q9H251:p.Arg301Gln,pathogenic
Q9H251:p.His308Arg,benign
Q9H251:p.Asn342Ser,pathogenic
Q9H251:p.Ala366Thr,pathogenic
Q9H251:p.Val374Met,benign
Q9H251:p.Asn379Thr,benign
Q9H251:p.Leu380Gln,benign
Q9H251:p.Leu380Val,benign
Q9H251:p.His397Tyr,benign
Q9H251:p.Arg414Leu,benign
Q9H251:p.Thr449Ala,benign
Q9H251:p.Asn452Ser,pathogenic
Q9H251:p.Ile459Val,benign
Q9H251:p.Ile467Val,benign
Q9H251:p.Val473Ala,benign
Q9H251:p.Val473Ile,benign
Q9H251:p.Leu480Gln,pathogenic
Q9H251:p.Ala484Pro,pathogenic
Q9H251:p.Asn487Ser,benign
Q9H251:p.Ala489Val,benign
Q9H251:p.Ser496Asn,benign
Q9H251:p.Thr512Met,benign
Q9H251:p.Met516Leu,benign
Q9H251:p.Met516Val,benign
Q9H251:p.Ile533Val,benign
Q9H251:p.Val558Ile,benign
Q9H251:p.Val558Met,benign
Q9H251:p.Ala565Ser,benign
Q9H251:p.Arg582Gln,pathogenic
Q9H251:p.Ser602Asn,benign
Q9H251:p.Leu614Val,benign
Q9H251:p.Ser633Pro,benign
Q9H251:p.Thr640Ile,benign
Q9H251:p.Thr640Met,benign
Q9H251:p.Met644Lys,benign
Q9H251:p.Asn648His,benign
Q9H251:p.Asn648Ser,benign
Q9H251:p.Asn652Tyr,benign
Q9H251:p.Val657Ile,benign
Q9H251:p.Ala675Ser,benign
Q9H251:p.Thr717Ala,benign
Q9H251:p.Thr717Ser,benign
Q9H251:p.Gln718Arg,benign
Q9H251:p.Ile728Val,benign
Q9H251:p.Thr738Ile,benign
Q9H251:p.His755Tyr,pathogenic
Q9H251:p.Ile766Val,benign
Q9H251:p.Val803Leu,benign
Q9H251:p.Gln818Glu,benign
Q9H251:p.Ser828Gly,benign
Q9H251:p.Thr829Ser,benign
Q9H251:p.Ala838Val,benign
Q9H251:p.Pro847Ser,benign
Q9H251:p.His848Asp,benign
Q9H251:p.His848Glu,benign
Q9H251:p.Lys855Arg,benign
Q9H251:p.Val857Ile,benign
Q9H251:p.Val858Ile,benign
Q9H251:p.Arg865Asn,benign
Q9H251:p.Arg865Thr,benign
Q9H251:p.Lys869Arg,benign
Q9H251:p.Phe895Ser,benign
Q9H251:p.Leu900Val,benign
Q9H251:p.Ile903Thr,benign
Q9H251:p.Val907Ile,benign
Q9H251:p.Ile909Val,benign
Q9H251:p.Tyr910Phe,benign
Q9H251:p.Ile915Val,benign
Q9H251:p.Leu921Pro,benign
Q9H251:p.Gly923Ser,benign
Q9H251:p.Ser926Thr,benign
Q9H251:p.Pro930Gln,benign
Q9H251:p.Gly932Ala,benign
Q9H251:p.Met933Leu,benign
Q9H251:p.Met936Leu,benign
Q9H251:p.Leu939Val,benign
Q9H251:p.Ser942Gly,benign
Q9H251:p.Ser943Thr,benign
Q9H251:p.Ser944Asn,benign
Q9H251:p.Val946Ala,benign
Q9H251:p.Val946Glu,benign
Q9H251:p.Val946Met,benign
Q9H251:p.Val948Leu,benign
Q9H251:p.Val948Arg,benign
Q9H251:p.Thr951Ala,benign
Q9H251:p.Glu952Gln,benign
Q9H251:p.Glu956Lys,pathogenic
Q9H251:p.Ala970Leu,benign
Q9H251:p.His984Arg,benign
Q9H251:p.Asp990Asn,pathogenic
Q9H251:p.Thr992Met,benign
Q9H251:p.Asn1022His,benign
Q9H251:p.Val1039Leu,benign
Q9H251:p.Val1045Ile,benign
Q9H251:p.Val1051Thr,benign
Q9H251:p.Gly1057Ser,benign
Q9H251:p.Arg1060Trp,pathogenic
Q9H251:p.Ala1065Ser,benign
Q9H251:p.Ala1065Thr,benign
Q9H251:p.Met1067Thr,benign
Q9H251:p.Ile1069Val,benign
Q9H251:p.His1082Arg,benign
Q9H251:p.Val1088Ala,benign
Q9H251:p.Val1090Ile,pathogenic
Q9H251:p.Asn1098Ser,pathogenic
Q9H251:p.Val1111Ile,benign
Q9H251:p.Leu1122Ala,benign
Q9H251:p.Leu1122Val,benign
Q9H251:p.His1143Arg,benign
Q9H251:p.His1146Gln,benign
Q9H251:p.Asn1148Ser,benign
Q9H251:p.Val1154Ile,benign
Q9H251:p.Asn1156Ser,benign
Q9H251:p.Arg1170Gln,benign
Q9H251:p.Val1175Met,benign
Q9H251:p.Ile1177Met,benign
Q9H251:p.Ile1177Thr,benign
Q9H251:p.Ile1177Val,benign
Q9H251:p.Glu1179Asp,benign
Q9H251:p.His1183Asn,benign
Q9H251:p.Gly1186Asp,pathogenic
Q9H251:p.Ile1201Val,benign
Q9H251:p.Pro1206Arg,pathogenic
Q9H251:p.Thr1209Ala,pathogenic
Q9H251:p.Ser1214Asn,benign
Q9H251:p.Arg1215His,benign
Q9H251:p.Ile1224Val,benign
Q9H251:p.Gln1232Arg,benign
Q9H251:p.Ser1238Thr,benign
Q9H251:p.Arg1247His,benign
Q9H251:p.Arg1247Ser,benign
Q9H251:p.Ala1252Thr,benign
Q9H251:p.Ile1265Val,benign
Q9H251:p.Ile1266Val,benign
Q9H251:p.Asn1269Asp,benign
Q9H251:p.Met1280Leu,benign
Q9H251:p.Met1280Val,benign
Q9H251:p.Met1281Ile,benign
Q9H251:p.Gln1288Arg,benign
Q9H251:p.Pro1290Leu,benign
Q9H251:p.Ile1301Val,benign
Q9H251:p.Ala1320Val,benign
Q9H251:p.Ala1321Thr,benign
Q9H251:p.Ala1321Val,benign
Q9H251:p.Leu1323Met,benign
Q9H251:p.Leu1323Trp,benign
Q9H251:p.Leu1328Pro,benign
Q9H251:p.Asp1341Asn,pathogenic
Q9H251:p.Thr1347Met,benign
Q9H251:p.Thr1347Val,benign
Q9H251:p.Asn1351Asp,benign
Q9H251:p.Ala1352Val,benign
Q9H251:p.Tyr1353His,benign
Q9H251:p.Ser1355Ile,benign
Q9H251:p.Thr1356Ala,benign
Q9H251:p.Ile1367Leu,benign
Q9H251:p.Ile1367Val,benign
Q9H251:p.Thr1368Met,pathogenic
Q9H251:p.Gln1374Lys,benign
Q9H251:p.Leu1376Gln,benign
Q9H251:p.Lys1403Gln,benign
Q9H251:p.Arg1417Trp,pathogenic
Q9H251:p.Thr1421Ile,benign
Q9H251:p.Asp1423Asn,benign
Q9H251:p.Val1426Ile,benign
Q9H251:p.Ile1428Val,benign
Q9H251:p.Pro1433Leu,benign
Q9H251:p.Gln1436Lys,benign
Q9H251:p.Arg1437Gln,benign
Q9H251:p.Trp1444Gln,benign
Q9H251:p.Trp1444Arg,benign
Q9H251:p.Ala1459Val,benign
Q9H251:p.Ile1463Val,benign
Q9H251:p.Val1470Ile,benign
Q9H251:p.Thr1472Ser,benign
Q9H251:p.Ile1476Val,benign
Q9H251:p.Phe1480Ser,benign
Q9H251:p.Ala1482Val,benign
Q9H251:p.Arg1483Lys,benign
Q9H251:p.Leu1490Arg,benign
Q9H251:p.Gln1496His,pathogenic
Q9H251:p.Gln1496Lys,benign
Q9H251:p.Arg1502Cys,benign
Q9H251:p.Thr1504Ile,benign
Q9H251:p.Thr1504Ser,benign
Q9H251:p.Arg1507Gln,pathogenic
Q9H251:p.Leu1513Val,benign
Q9H251:p.Ile1520Val,benign
Q9H251:p.Ala1546Ser,benign
Q9H251:p.Arg1555Leu,benign
Q9H251:p.Val1562Ile,benign
Q9H251:p.Glu1569Gly,benign
Q9H251:p.Lys1572Glu,benign
Q9H251:p.Lys1572Gln,benign
Q9H251:p.Ala1575Thr,benign
Q9H251:p.Ile1581Leu,benign
Q9H251:p.Ile1581Ser,benign
Q9H251:p.Ile1581Val,benign
Q9H251:p.Ala1586Pro,pathogenic
Q9H251:p.Glu1595Lys,pathogenic
Q9H251:p.Ser1598Asn,benign
Q9H251:p.Ala1604Val,benign
Q9H251:p.Asp1626Ala,pathogenic
Q9H251:p.Ala1631Val,benign
Q9H251:p.Met1633Val,benign
Q9H251:p.Gln1635Arg,benign
Q9H251:p.Gln1636Arg,benign
Q9H251:p.His1638Tyr,benign
Q9H251:p.Val1641Ile,benign
Q9H251:p.Leu1642Val,benign
Q9H251:p.Asp1648Ala,benign
Q9H251:p.Leu1650Ile,benign
Q9H251:p.Leu1650Val,benign
Q9H251:p.Thr1652Ala,benign
Q9H251:p.Thr1656Ile,benign
Q9H251:p.Ile1657Val,benign
Q9H251:p.Thr1671Ala,benign
Q9H251:p.Thr1671Ile,benign
Q9H251:p.Val1675Ile,benign
Q9H251:p.Ala1676Ser,benign
Q9H251:p.Ile1679Thr,benign
Q9H251:p.Val1680Ile,benign
Q9H251:p.Arg1684His,benign
Q9H251:p.Asp1686Gly,benign
Q9H251:p.Asp1686Asn,benign
Q9H251:p.His1688Tyr,benign
Q9H251:p.Met1689Thr,benign
Q9H251:p.Val1691Ile,benign
Q9H251:p.Thr1693Arg,benign
Q9H251:p.Thr1693Ser,benign
Q9H251:p.Ala1694Thr,benign
Q9H251:p.Ala1695Thr,benign
Q9H251:p.Ala1695Val,benign
Q9H251:p.Ile1710Leu,benign
Q9H251:p.Ile1710Val,benign
Q9H251:p.Val1711Ile,benign
Q9H251:p.Gln1716Glu,benign
Q9H251:p.Gln1716Pro,pathogenic
Q9H251:p.Ile1719Val,benign
Q9H251:p.Leu1720Phe,benign
Q9H251:p.His1722Arg,benign
Q9H251:p.Leu1731Thr,benign
Q9H251:p.Val1741Met,benign
Q9H251:p.Arg1746Gln,pathogenic
Q9H251:p.Asp1747His,benign
Q9H251:p.Glu1753Asp,benign
Q9H251:p.His1769Tyr,benign
Q9H251:p.Asn1776Arg,benign
Q9H251:p.Ile1783Val,benign
Q9H251:p.Met1784Val,benign
Q9H251:p.Pro1788Leu,pathogenic
Q9H251:p.Leu1789Arg,benign
Q9H251:p.Val1793Leu,benign
Q9H251:p.Arg1804Gln,benign
Q9H251:p.Ile1814Val,benign
Q9H251:p.Met1828Leu,benign
Q9H251:p.Met1828Val,benign
Q9H251:p.Asp1846Asn,pathogenic
Q9H251:p.Ile1858Val,benign
Q9H251:p.Thr1859Ser,benign
Q9H251:p.Val1866Ile,benign
Q9H251:p.His1872Arg,benign
Q9H251:p.Val1873Ile,benign
Q9H251:p.Arg1885His,benign
Q9H251:p.Arg1885Leu,benign
Q9H251:p.Phe1888Ser,pathogenic
Q9H251:p.Ala1892Ser,benign
Q9H251:p.Arg1897Gln,benign
Q9H251:p.Phe1900Ile,benign
Q9H251:p.Phe1900Ser,benign
Q9H251:p.Val1908Ile,benign
Q9H251:p.Arg1912Trp,pathogenic
Q9H251:p.Arg1918Gln,benign
Q9H251:p.Lys1923Arg,benign
Q9H251:p.Ile1926Val,benign
Q9H251:p.Asp1930Asn,pathogenic
Q9H251:p.Pro1935Ser,benign
Q9H251:p.Arg1940Lys,benign
Q9H251:p.Tyr1942Phe,benign
Q9H251:p.Leu1944Ser,benign
Q9H251:p.Ile1947Val,benign
Q9H251:p.Phe1948Tyr,benign
Q9H251:p.Ser1950Ala,benign
Q9H251:p.Ser1950Thr,benign
Q9H251:p.His1956Tyr,benign
Q9H251:p.Lys1961Glu,benign
Q9H251:p.Ser1962Gly,benign
Q9H251:p.Thr1963Ser,benign
Q9H251:p.Val1980Met,benign
Q9H251:p.Ile1985Val,benign
Q9H251:p.Gln1992Glu,benign
Q9H251:p.Gln1992Lys,benign
Q9H251:p.Gln1992Leu,benign
Q9H251:p.Ile1994Met,benign
Q9H251:p.Ile1994Val,benign
Q9H251:p.Val1997Ile,benign
Q9H251:p.Gln2001Lys,benign
Q9H251:p.Gln2006His,benign
Q9H251:p.Gly2008Glu,benign
Q9H251:p.Gly2008Arg,benign
Q9H251:p.Asn2013Asp,benign
Q9H251:p.Ser2014Asn,benign
Q9H251:p.Gly2017Ser,pathogenic
Q9H251:p.Val2018Met,benign
Q9H251:p.Thr2020Ala,benign
Q9H251:p.Arg2022Ser,benign
Q9H251:p.Ile2026Val,benign
Q9H251:p.Ile2027Leu,benign
Q9H251:p.Arg2029Trp,pathogenic
Q9H251:p.Ser2033Leu,benign
Q9H251:p.Ile2036Val,benign
Q9H251:p.Glu2044Lys,benign
Q9H251:p.Asp2045Asn,pathogenic
Q9H251:p.Ile2046Val,benign
Q9H251:p.Ser2051Gly,benign
Q9H251:p.His2054Asp,benign
Q9H251:p.Ile2057Val,benign
Q9H251:p.Arg2066Cys,benign
Q9H251:p.Arg2066Gln,benign
Q9H251:p.Arg2066Trp,benign
Q9H251:p.Ser2070Arg,benign
Q9H251:p.Thr2073Ala,benign
Q9H251:p.Thr2073Val,benign
Q9H251:p.Leu2074Tyr,benign
Q9H251:p.Phe2086Val,benign
Q9H251:p.Glu2096Asp,benign
Q9H251:p.Val2105Ile,benign
Q9H251:p.Leu2117Phe,benign
Q9H251:p.Leu2120Pro,benign
Q9H251:p.Val2121Ala,benign
Q9H251:p.Val2121Ile,benign
Q9H251:p.Val2124Asp,benign
Q9H251:p.Val2124Ile,benign
Q9H251:p.Arg2126His,benign
Q9H251:p.Gly2128Ser,benign
Q9H251:p.Glu2138Asp,benign
Q9H251:p.Ser2139Ala,benign
Q9H251:p.Thr2143Met,benign
Q9H251:p.Asp2148Asn,pathogenic
Q9H251:p.Arg2149Trp,benign
Q9H251:p.Val2152Ile,benign
Q9H251:p.Val2152Leu,benign
Q9H251:p.Ile2159Val,benign
Q9H251:p.Val2160Ile,benign
Q9H251:p.Ile2162Val,benign
Q9H251:p.Asp2165Glu,benign
Q9H251:p.Arg2171Cys,benign
Q9H251:p.Leu2175Ile,benign
Q9H251:p.Pro2189Leu,benign
Q9H251:p.Val2192Ile,benign
Q9H251:p.Ile2196Val,benign
Q9H251:p.His2201Leu,benign
Q9H251:p.His2201Arg,benign
Q9H251:p.Asp2202Asn,pathogenic
Q9H251:p.Asn2204Asp,benign
Q9H251:p.Lys2206Met,benign
Q9H251:p.Val2212Ile,benign
Q9H251:p.Gly2213Asp,benign
Q9H251:p.Gly2213Ser,benign
Q9H251:p.Val2215Met,benign
Q9H251:p.Lys2217Arg,benign
Q9H251:p.Arg2222Cys,benign
Q9H251:p.Arg2222Leu,benign
Q9H251:p.Asn2226Asp,benign
Q9H251:p.Asn2226Gly,benign
Q9H251:p.Ala2230Val,benign
Q9H251:p.Met2241Ile,benign
Q9H251:p.Met2246Leu,benign
Q9H251:p.Arg2270His,benign
Q9H251:p.Val2283Ile,benign
Q9H251:p.Asn2287Lys,pathogenic
Q9H251:p.Thr2299Pro,benign
Q9H251:p.Met2302Thr,benign
Q9H251:p.Ile2305Val,benign
Q9H251:p.Ala2309Thr,benign
Q9H251:p.Val2331Ile,benign
Q9H251:p.Val2339Met,benign
Q9H251:p.Val2339Thr,benign
Q9H251:p.Ala2351Thr,benign
Q9H251:p.Arg2358Gln,benign
Q9H251:p.Arg2358Trp,benign
Q9H251:p.Arg2373Lys,benign
Q9H251:p.Asp2376Val,pathogenic
Q9H251:p.Pro2380Leu,benign
Q9H251:p.Pro2405Leu,benign
Q9H251:p.Pro2416Ala,benign
Q9H251:p.Gly2418Asp,benign
Q9H251:p.Ile2420Val,benign
Q9H251:p.Thr2423Arg,benign
Q9H251:p.Glu2438Lys,pathogenic
Q9H251:p.Gly2442Val,benign
Q9H251:p.Ser2446Gly,benign
Q9H251:p.Thr2453Asn,benign
Q9H251:p.Ser2462Pro,benign
Q9H251:p.Arg2465Trp,pathogenic
Q9H251:p.Asp2469Asn,benign
Q9H251:p.Val2484Ile,benign
Q9H251:p.Arg2488His,benign
Q9H251:p.Gln2498His,benign
Q9H251:p.Ser2517Gly,pathogenic
Q9H251:p.Thr2530Ile,pathogenic
Q9H251:p.Met2532Leu,benign
Q9H251:p.Pro2540Ser,benign
Q9H251:p.Glu2543Gln,benign
Q9H251:p.Thr2545Ala,benign
Q9H251:p.Glu2549Asp,benign
Q9H251:p.Pro2551Ser,benign
Q9H251:p.Val2553Glu,benign
Q9H251:p.Val2553Met,benign
Q9H251:p.His2557Asp,benign
Q9H251:p.His2557Phe,benign
Q9H251:p.Met2560Val,benign
Q9H251:p.Gln2568Lys,benign
Q9H251:p.Gln2568Arg,benign
Q9H251:p.Lys2576Arg,benign
Q9H251:p.Ser2578Asn,benign
Q9H251:p.Gly2586Ser,benign
Q9H251:p.Glu2588Gln,benign
Q9H251:p.Arg2608His,pathogenic
Q9H251:p.Ile2619Val,benign
Q9H251:p.Arg2623Lys,benign
Q9H251:p.Arg2629His,benign
Q9H251:p.Tyr2636Phe,benign
Q9H251:p.Ala2656Thr,benign
Q9H251:p.Asn2658Ser,benign
Q9H251:p.Phe2663Tyr,benign
Q9H251:p.Ile2665Thr,benign
Q9H251:p.Pro2668Ala,benign
Q9H251:p.Ile2669Val,benign
Q9H251:p.Ser2683Lys,benign
Q9H251:p.Ser2683Thr,benign
Q9H251:p.Ala2711Thr,benign
Q9H251:p.Val2723Met,benign
Q9H251:p.Leu2734Gln,benign
Q9H251:p.Gly2744Ser,pathogenic
Q9H251:p.Thr2751Ser,benign
Q9H251:p.Val2754Met,benign
Q9H251:p.Pro2760Leu,benign
Q9H251:p.Ala2770Val,benign
Q9H251:p.Gly2771Ser,pathogenic
Q9H251:p.Glu2773Asp,benign
Q9H251:p.Glu2774Asp,benign
Q9H251:p.Lys2775Gln,benign
Q9H251:p.Asp2782Glu,benign
Q9H251:p.Cys2784His,benign
Q9H251:p.Cys2784Arg,benign
Q9H251:p.Arg2795Lys,benign
Q9H251:p.Ile2798Val,benign
Q9H251:p.Phe2801Leu,benign
Q9H251:p.Pro2814Ala,benign
Q9H251:p.Pro2814Ser,benign
Q9H251:p.Arg2815His,benign
Q9H251:p.Gly2816Arg,benign
Q9H251:p.Pro2819Leu,benign
Q9H251:p.Thr2820Ala,benign
Q9H251:p.Thr2820Ser,benign
Q9H251:p.Val2824Leu,benign
Q9H251:p.Ala2825Thr,benign
Q9H251:p.Arg2833Gly,pathogenic
Q9H251:p.Arg2833His,benign
Q9H251:p.Val2835Met,benign
Q9H251:p.Gln2867Arg,benign
Q9H251:p.Ile2875Thr,benign
Q9H251:p.Ser2884Gly,benign
Q9H251:p.Arg2892His,benign
Q9H251:p.Arg2892Gln,benign
Q9H251:p.Asp2897Ala,benign
Q9H251:p.Asp2900Ala,benign
Q9H251:p.Met2910Val,benign
Q9H251:p.Ile2913Val,benign
Q9H251:p.Arg2935Gln,benign
Q9H251:p.Ile2946Val,benign
Q9H251:p.Ile2948Val,benign
Q9H251:p.Ile2950Asn,pathogenic
Q9H251:p.Arg2956Cys,pathogenic
Q9H251:p.Val2968Ala,pathogenic
Q9H251:p.Gly2970Ser,benign
Q9H251:p.His2977Arg,benign
Q9H251:p.Asn2991Asp,benign
Q9H251:p.Asp3017Glu,benign
Q9H251:p.Arg3020His,benign
Q9H251:p.Val3056Ile,benign
Q9H251:p.Pro3059Thr,pathogenic
Q9H251:p.Met3062Leu,benign
Q9H251:p.Met3067Leu,benign
Q9H251:p.Val3084Ile,benign
Q9H251:p.Ala3106Gln,benign
Q9H251:p.Gly3107Leu,benign
Q9H251:p.Ala3144Thr,benign
Q9H251:p.Thr3169Ala,benign
Q9H251:p.Arg3175His,pathogenic
Q9H251:p.Arg3189Trp,pathogenic
Q9H251:p.Ser3245Phe,pathogenic
Q9H251:p.Gln3249His,benign
Q9H251:p.Thr3250Pro,benign
Q9H251:p.Glu3251Asp,benign
Q9H251:p.Asp3253Glu,benign
Q9H251:p.Gly3257Gln,benign
Q9H251:p.Gly3257Arg,benign
Q9H251:p.Asp3258Glu,benign
Q9H251:p.His3259Arg,benign
Q9H251:p.Arg3269His,benign
Q9H251:p.Arg3269Tyr,benign
Q9H251:p.Val3274Met,benign
Q9H251:p.Val3274Thr,benign
Q9H251:p.Val3284Met,benign
Q9H251:p.Val3285Met,benign
Q9H251:p.Gly3287Asp,benign
Q9H251:p.Glu3303Asp,benign
Q9H251:p.Gly3307Ala,benign
Q9H251:p.Gly3309Asp,benign
Q9H251:p.Ala3317Thr,benign
Q9H251:p.Ala3318Ser,benign
Q9H251:p.Ala3318Thr,benign
Q9H251:p.Glu3319Asp,benign
Q9H251:p.Ala3320Val,benign
Q9H251:p.Thr3321Ala,benign
Q9H251:p.Thr3321Ser,benign
Q9H251:p.Leu3340Phe,benign
Q9H251:p.Thr3347Ser,benign
O00255:p.Pro12Leu,pathogenic
O00255:p.Leu22Arg,pathogenic
O00255:p.Glu26Lys,pathogenic
O00255:p.Gly28Ala,benign
O00255:p.Leu39Trp,pathogenic
O00255:p.Gly42Asp,pathogenic
O00255:p.Glu45Gly,pathogenic
O00255:p.Glu45Lys,pathogenic
O00255:p.Thr62Ser,benign
O00255:p.Ala68Thr,benign
O00255:p.Pro69Thr,benign
O00255:p.Tyr77Phe,benign
O00255:p.Arg98Leu,pathogenic
O00255:p.Glu109Asp,benign
O00255:p.Gly110Glu,pathogenic
O00255:p.Glu116Asp,benign
O00255:p.Lys135Ile,pathogenic
O00255:p.His139Asp,pathogenic
O00255:p.His139Pro,pathogenic
O00255:p.His139Arg,pathogenic
O00255:p.His139Tyr,pathogenic
O00255:p.Ser142Thr,benign
O00255:p.Phe144Val,pathogenic
O00255:p.Ile147Phe,pathogenic
O00255:p.Trp150Gly,benign
O00255:p.Ser151Gly,benign
O00255:p.Pro152His,benign
O00255:p.Pro152Leu,benign
O00255:p.Pro152Gln,benign
O00255:p.Val153Ala,benign
O00255:p.Val153Leu,benign
O00255:p.Val153Thr,benign
O00255:p.Asp158Val,pathogenic
O00255:p.Ser159Ile,pathogenic
O00255:p.Ser160Phe,pathogenic
O00255:p.Gly161Asp,pathogenic
O00255:p.Ala165Pro,pathogenic
O00255:p.Ala165Thr,pathogenic
O00255:p.Val167Phe,pathogenic
O00255:p.Ala169Asp,pathogenic
O00255:p.Cys170Arg,pathogenic
O00255:p.Leu173Pro,pathogenic
O00255:p.Asp177Tyr,pathogenic
O00255:p.Ala181Pro,pathogenic
O00255:p.Glu184Asp,pathogenic
O00255:p.Glu184Lys,pathogenic
O00255:p.Glu184Gln,pathogenic
O00255:p.His186Arg,pathogenic
O00255:p.Trp188Arg,pathogenic
O00255:p.Trp188Ser,pathogenic
O00255:p.Val189Glu,pathogenic
O00255:p.Pro193Ser,benign
O00255:p.Asn194Ser,benign
O00255:p.Gly195Arg,benign
O00255:p.Ala218Val,benign
O00255:p.Val220Met,pathogenic
O00255:p.Leu228Pro,pathogenic
O00255:p.Gly230Arg,pathogenic
O00255:p.Met233Leu,benign
O00255:p.Arg234Cys,benign
O00255:p.Arg234Leu,pathogenic
O00255:p.Asp236Asn,benign
O00255:p.Val245Phe,pathogenic
O00255:p.Cys246Phe,pathogenic
O00255:p.Cys246Arg,pathogenic
O00255:p.Cys246Tyr,pathogenic
O00255:p.Ala247Val,pathogenic
O00255:p.Ser258Pro,pathogenic
O00255:p.Glu260Lys,pathogenic
O00255:p.Leu264Arg,pathogenic
O00255:p.Gln265Pro,pathogenic
O00255:p.Leu269Pro,pathogenic
O00255:p.Leu272Pro,pathogenic
O00255:p.Tyr273His,benign
O00255:p.Pro282His,pathogenic
O00255:p.Gly286Arg,pathogenic
O00255:p.Ala289Glu,pathogenic
O00255:p.Leu291Pro,pathogenic
O00255:p.Pro296Arg,benign
O00255:p.Pro298Thr,benign
O00255:p.Gly299Ser,benign
O00255:p.Gly310Asp,pathogenic
O00255:p.Ala312Thr,benign
O00255:p.Ala314Pro,pathogenic
O00255:p.Thr316Ala,benign
O00255:p.Thr316Pro,pathogenic
O00255:p.Thr316Ser,benign
O00255:p.Tyr317His,benign
O00255:p.Arg319Pro,pathogenic
O00255:p.Arg319Gln,benign
O00255:p.His322Arg,pathogenic
O00255:p.His322Tyr,pathogenic
O00255:p.Pro325Leu,pathogenic
O00255:p.Pro325Arg,pathogenic
O00255:p.Ala330Pro,pathogenic
O00255:p.Tyr332Phe,benign
O00255:p.Ala342Asp,pathogenic
O00255:p.Ala342Pro,pathogenic
O00255:p.Ala345Asp,benign
O00255:p.Trp346Arg,pathogenic
O00255:p.Ala347Pro,pathogenic
O00255:p.Thr349Arg,pathogenic
O00255:p.Ile353Asn,pathogenic
O00255:p.Asp355Glu,benign
O00255:p.Tyr358Asp,pathogenic
O00255:p.Arg360Trp,pathogenic
O00255:p.Asp362His,pathogenic
O00255:p.Glu364Lys,pathogenic
O00255:p.Ala373Asp,pathogenic
O00255:p.Ile377Met,pathogenic
O00255:p.Pro378Ser,pathogenic
O00255:p.Ser386Thr,benign
O00255:p.Ala390Thr,benign
O00255:p.Ala390Val,pathogenic
O00255:p.Gly391Ser,benign
O00255:p.Glu393Asp,benign
O00255:p.Pro395Thr,benign
O00255:p.Gly396Ala,benign
O00255:p.Glu397Asp,benign
O00255:p.Gln398Pro,benign
O00255:p.Ser399Ala,benign
O00255:p.Ser399Asn,benign
O00255:p.Ser399Thr,benign
O00255:p.Thr402Ala,benign
O00255:p.Thr402Ile,benign
O00255:p.Thr402Met,benign
O00255:p.Thr402Pro,benign
O00255:p.Thr402Ser,benign
O00255:p.Thr402Val,benign
O00255:p.Gln403Pro,benign
O00255:p.Ser404Gly,benign
O00255:p.Ser404Thr,benign
O00255:p.Gly406Ser,benign
O00255:p.Gln410His,benign
O00255:p.Ala416Pro,pathogenic
O00255:p.Leu418Arg,pathogenic
O00255:p.Leu419Pro,pathogenic
O00255:p.Arg420Pro,pathogenic
O00255:p.Asp423His,pathogenic
O00255:p.Asp423Asn,pathogenic
O00255:p.Cys426Tyr,pathogenic
O00255:p.Trp428Ser,pathogenic
O00255:p.Ser432Arg,pathogenic
O00255:p.Trp441Cys,pathogenic
O00255:p.Trp441Arg,pathogenic
O00255:p.Leu449Pro,pathogenic
O00255:p.Phe452Ser,pathogenic
O00255:p.Arg461His,benign
O00255:p.Val463Ile,benign
O00255:p.Glu466Asp,benign
O00255:p.Ala467Pro,benign
O00255:p.Ala467Ser,benign
O00255:p.Ala467Thr,benign
O00255:p.Glu468Asp,benign
O00255:p.Ala469Thr,benign
O00255:p.Ala470Thr,benign
O00255:p.Ala472Thr,benign
O00255:p.Pro475Leu,benign
O00255:p.Trp476Cys,pathogenic
O00255:p.Glu478Asp,benign
O00255:p.Glu479Asp,benign
O00255:p.Ala480Ser,benign
O00255:p.Glu496Asp,benign
O00255:p.Lys501Gln,benign
O00255:p.Pro503Leu,benign
O00255:p.Gly508Ala,benign
O00255:p.Gly508Val,benign
O00255:p.Leu509Ala,benign
O00255:p.Leu509Pro,benign
O00255:p.Leu509Gln,benign
O00255:p.Leu509Thr,benign
O00255:p.Gly510Ser,benign
O00255:p.Gly510Val,benign
O00255:p.Thr511Ala,benign
O00255:p.Thr511Gly,benign
O00255:p.Thr511Leu,benign
O00255:p.Thr511Pro,benign
O00255:p.Thr511Ser,benign
O00255:p.Thr511Val,benign
O00255:p.Gly512Ser,benign
O00255:p.Gly512Val,benign
O00255:p.Gln513Ala,benign
O00255:p.Gln513Pro,benign
O00255:p.Gly514Ala,benign
O00255:p.Gly514Asn,benign
O00255:p.Gly514Ser,benign
O00255:p.Ala515Ile,benign
O00255:p.Ala515Leu,benign
O00255:p.Ala515Met,benign
O00255:p.Ala515Pro,benign
O00255:p.Ala515Gln,benign
O00255:p.Ala515Thr,benign
O00255:p.Ala515Val,benign
O00255:p.Val516Ala,benign
O00255:p.Val516Gly,benign
O00255:p.Val516Met,benign
O00255:p.Val516Thr,benign
O00255:p.Ser517Ala,benign
O00255:p.Ser517Pro,benign
O00255:p.Ser517Thr,benign
O00255:p.Gly518Ala,benign
O00255:p.Pro519Ala,benign
O00255:p.Pro520Ala,benign
O00255:p.Pro520Gln,benign
O00255:p.Arg521Lys,benign
O00255:p.Arg521Pro,benign
O00255:p.Lys522Gln,benign
O00255:p.Lys522Arg,benign
O00255:p.Pro523Leu,benign
O00255:p.Pro523Ser,benign
O00255:p.Pro523Thr,benign
O00255:p.Pro524Ser,benign
O00255:p.Gly525Ala,benign
O00255:p.Thr526Ala,benign
O00255:p.Thr526Ile,benign
O00255:p.Thr526Met,benign
O00255:p.Thr526Asn,benign
O00255:p.Thr526Pro,benign
O00255:p.Val527Gly,benign
O00255:p.Val527Leu,benign
O00255:p.Val527Ser,benign
O00255:p.Ala528Leu,benign
O00255:p.Ala528Pro,benign
O00255:p.Ala528Ser,benign
O00255:p.Gly529Ala,benign
O00255:p.Gly529Asn,benign
O00255:p.Gly529Ser,benign
O00255:p.Gly529Val,benign
O00255:p.Thr530Ala,benign
O00255:p.Thr530Met,benign
O00255:p.Thr530Asn,benign
O00255:p.Thr530Pro,benign
O00255:p.Thr530Ser,benign
O00255:p.Thr530Val,benign
O00255:p.Ala531Pro,benign
O00255:p.Ala531Thr,benign
O00255:p.Ala531Val,benign
O00255:p.Arg532Cys,pathogenic
O00255:p.Gly533Val,benign
O00255:p.Pro534Ala,benign
O00255:p.Pro534Gln,benign
O00255:p.Pro534Ser,benign
O00255:p.Pro534Thr,benign
O00255:p.Gly536Ala,benign
O00255:p.Gly536Val,benign
O00255:p.Gly537Ser,benign
O00255:p.Ser538Gly,benign
O00255:p.Ser538Asn,benign
O00255:p.Ser538Thr,benign
O00255:p.Thr539Ala,benign
O00255:p.Thr539Met,benign
O00255:p.Thr539Pro,benign
O00255:p.Thr539Ser,benign
O00255:p.Ala540Gly,benign
O00255:p.Ala540Pro,benign
O00255:p.Ala540Thr,benign
O00255:p.Ala540Val,benign
O00255:p.Gln541Ala,benign
O00255:p.Gln541Pro,benign
O00255:p.Gln541Ser,benign
O00255:p.Val542Ala,benign
O00255:p.Val542Gly,benign
O00255:p.Val542Thr,benign
O00255:p.Pro543Leu,benign
O00255:p.Pro543Ser,benign
O00255:p.Ala544Thr,benign
O00255:p.Ala544Val,benign
O00255:p.Pro545Leu,benign
O00255:p.Pro545Ser,pathogenic
O00255:p.Thr546Ala,benign
O00255:p.Thr546Pro,benign
O00255:p.Thr546Ser,benign
O00255:p.Ala547Gly,benign
O00255:p.Ala547Ser,benign
O00255:p.Ala547Val,benign
O00255:p.Ser548Pro,benign
O00255:p.Pro549Ser,pathogenic
O00255:p.Pro550Leu,benign
O00255:p.Pro551Leu,benign
O00255:p.Glu552Asp,benign
O00255:p.Thr557Met,benign
O00255:p.Ser560Asn,pathogenic
O00255:p.Ser560Arg,pathogenic
O00255:p.Val597Ala,benign
O00255:p.Thr599Ala,benign
O00255:p.Thr599Pro,benign
O00255:p.Ser606Leu,benign
O00255:p.Gly614Glu,benign
O00255:p.Leu615Val,benign
P12883:p.Gly2Ala,benign
P12883:p.Gly2Pro,benign
P12883:p.Gly2Val,benign
P12883:p.Ser4Ala,benign
P12883:p.Ser4Arg,benign
P12883:p.Ser4Thr,benign
P12883:p.Met6Ile,benign
P12883:p.Met6Leu,benign
P12883:p.Ala7Ser,benign
P12883:p.Val8Ala,benign
P12883:p.Val8Ile,benign
P12883:p.Ala11Glu,benign
P12883:p.Ala11Ser,benign
P12883:p.Ala11Val,benign
P12883:p.Ala12Gly,benign
P12883:p.Tyr15Phe,benign
P12883:p.Ser19Thr,benign
P12883:p.Glu20Asp,benign
P12883:p.Lys21Arg,benign
P12883:p.Leu24His,benign
P12883:p.Leu24Ile,benign
P12883:p.Leu24Val,benign
P12883:p.Glu25Ala,benign
P12883:p.Ala26Asp,benign
P12883:p.Ala26Ser,benign
P12883:p.Ala26Val,pathogenic
P12883:p.Thr28Asn,benign
P12883:p.Pro30Ala,benign
P12883:p.Asp36Glu,benign
P12883:p.Phe38Tyr,benign
P12883:p.Val39Met,pathogenic
P12883:p.Pro40His,benign
P12883:p.Asp42Glu,benign
P12883:p.Asp42Val,benign
P12883:p.Gln44Glu,benign
P12883:p.Lys50Thr,benign
P12883:p.Ile51Val,benign
P12883:p.Val52Ile,benign
P12883:p.Val52Leu,benign
P12883:p.Val52Met,benign
P12883:p.Val52Thr,benign
P12883:p.Gly56Ala,benign
P12883:p.Gly57Asn,benign
P12883:p.Val59Ile,pathogenic
P12883:p.Tyr65Phe,benign
P12883:p.Tyr65His,benign
P12883:p.Tyr65Lys,benign
P12883:p.Tyr65Asn,benign
P12883:p.Tyr65Arg,benign
P12883:p.Lys72Arg,benign
P12883:p.Asp74Glu,benign
P12883:p.Gln75Asp,benign
P12883:p.Val76Ile,benign
P12883:p.Val76Leu,benign
P12883:p.Met77Leu,benign
P12883:p.Lys86Arg,benign
P12883:p.Tyr103Phe,benign
P12883:p.Asp107Glu,benign
P12883:p.Arg108Gly,benign
P12883:p.Gly110Ala,benign
P12883:p.Gly110Ser,benign
P12883:p.Ser111Ala,benign
P12883:p.Ser111Cys,benign
P12883:p.Tyr115His,pathogenic
P12883:p.Thr124Ile,pathogenic
P12883:p.Val125Ile,benign
P12883:p.Asn126Lys,benign
P12883:p.Thr135Asn,benign
P12883:p.Pro136Ala,benign
P12883:p.Glu137Gln,benign
P12883:p.Ala141Pro,benign
P12883:p.Arg143Gly,pathogenic
P12883:p.Arg143Gln,pathogenic
P12883:p.Arg143Trp,pathogenic
P12883:p.Lys146Asn,pathogenic
P12883:p.Ser148Ile,pathogenic
P12883:p.Ser148Arg,benign
P12883:p.Glu149Asp,benign
P12883:p.Ala150Cys,benign
P12883:p.Ala150Ser,benign
P12883:p.Pro152Ala,benign
P12883:p.Pro152Thr,benign
P12883:p.Tyr162Cys,pathogenic
P12883:p.Tyr164Asn,benign
P12883:p.Tyr164Ser,benign
P12883:p.Thr177Val,benign
P12883:p.Gly178Arg,benign
P12883:p.Val186Leu,pathogenic
P12883:p.Asn187Lys,pathogenic
P12883:p.Thr188Asn,pathogenic
P12883:p.Arg190Thr,pathogenic
P12883:p.Ala196Thr,pathogenic
P12883:p.Ile201Thr,pathogenic
P12883:p.Arg204His,pathogenic
P12883:p.Ser205Gly,benign
P12883:p.Ser205Lys,benign
P12883:p.Lys207Glu,benign
P12883:p.Lys207Gln,pathogenic
P12883:p.Asp208Glu,benign
P12883:p.Asp208Gln,benign
P12883:p.Gln209Thr,benign
P12883:p.Ser210Ala,benign
P12883:p.Ser210Gly,benign
P12883:p.Ser210Asn,benign
P12883:p.Ser210Thr,benign
P12883:p.Pro211Leu,pathogenic
P12883:p.Pro211Ser,benign
P12883:p.Pro211Thr,benign
P12883:p.Gly212Ser,benign
P12883:p.Gln222Glu,benign
P12883:p.Gln222Lys,pathogenic
P12883:p.Ala223Thr,pathogenic
P12883:p.Leu227Val,pathogenic
P12883:p.Asn232Ser,pathogenic
P12883:p.Val236Ile,benign
P12883:p.Phe244Leu,pathogenic
P12883:p.Arg249Gln,pathogenic
P12883:p.Gly256Glu,pathogenic
P12883:p.Ile263Met,pathogenic
P12883:p.Ile263Thr,pathogenic
P12883:p.Lys278Arg,benign
P12883:p.Ala279Ser,benign
P12883:p.Lys293Arg,benign
P12883:p.Ala311Ser,benign
P12883:p.Phe312Cys,pathogenic
P12883:p.Ile313Phe,benign
P12883:p.Ser314Pro,benign
P12883:p.Val320Met,pathogenic
P12883:p.Ala321Asp,benign
P12883:p.Ala321Pro,benign
P12883:p.Asp324Asn,benign
P12883:p.Ala326Ser,benign
P12883:p.Glu328Gly,pathogenic
P12883:p.Leu329His,benign
P12883:p.Met330Leu,benign
P12883:p.Asn334Ser,benign
P12883:p.Ser343Ala,benign
P12883:p.Ser343Leu,benign
P12883:p.Ser343Pro,benign
P12883:p.Ser343Thr,benign
P12883:p.Glu344Asp,benign
P12883:p.Asn347Ser,benign
P12883:p.Met349Ile,benign
P12883:p.Met349Thr,pathogenic
P12883:p.Lys351Glu,pathogenic
P12883:p.Ala355Thr,pathogenic
P12883:p.Ile356Val,benign
P12883:p.Leu366Met,benign
P12883:p.Leu366Gln,benign
P12883:p.Gln368Pro,benign
P12883:p.Glu374Asp,benign
P12883:p.Pro375Arg,benign
P12883:p.Ala381Glu,benign
P12883:p.Lys383Asn,pathogenic
P12883:p.Ala385Val,pathogenic
P12883:p.Leu390Val,pathogenic
P12883:p.Leu399Met,benign
P12883:p.Arg403Leu,pathogenic
P12883:p.Arg403Gln,pathogenic
P12883:p.Arg403Trp,pathogenic
P12883:p.Val404Leu,pathogenic
P12883:p.Val404Met,pathogenic
P12883:p.Val406Met,pathogenic
P12883:p.Gly407Val,pathogenic
P12883:p.Val411Ile,pathogenic
P12883:p.Thr412Asn,pathogenic
P12883:p.Asn416Ser,benign
P12883:p.Ile421Ala,benign
P12883:p.Ile421Leu,benign
P12883:p.Ile421Met,benign
P12883:p.Ile421Ser,benign
P12883:p.Ile421Thr,benign
P12883:p.Ile421Val,benign
P12883:p.Thr424Ile,benign
P12883:p.Thr424Lys,benign
P12883:p.Gly425Arg,pathogenic
P12883:p.Ala428Val,pathogenic
P12883:p.Ala430Glu,pathogenic
P12883:p.Ala430Ser,benign
P12883:p.Val431Met,benign
P12883:p.Arg434Lys,benign
P12883:p.Met435Thr,pathogenic
P12883:p.Val440Met,pathogenic
P12883:p.Thr441Ala,benign
P12883:p.Thr441Gly,benign
P12883:p.Thr441Met,pathogenic
P12883:p.Arg442His,benign
P12883:p.Ile443Thr,pathogenic
P12883:p.Ala445Ser,benign
P12883:p.Ala445Thr,benign
P12883:p.Ala445Val,benign
P12883:p.Lys450Glu,pathogenic
P12883:p.Lys450Arg,benign
P12883:p.Lys450Thr,pathogenic
P12883:p.Gln451Leu,benign
P12883:p.Pro452Gln,benign
P12883:p.Arg453Cys,pathogenic
P12883:p.Arg453His,pathogenic
P12883:p.Gln454His,benign
P12883:p.Tyr455His,benign
P12883:p.Phe456Thr,benign
P12883:p.Ile457Leu,benign
P12883:p.Val459Ser,benign
P12883:p.Leu460Ser,benign
P12883:p.Asp461Arg,benign
P12883:p.Ile462Leu,benign
P12883:p.Ala463Thr,benign
P12883:p.Phe465Cys,benign
P12883:p.Glu466His,benign
P12883:p.Ile467Thr,benign
P12883:p.Phe468Leu,benign
P12883:p.Asp469Gln,benign
P12883:p.Asn479Ser,pathogenic
P12883:p.Glu483Lys,pathogenic
P12883:p.Glu499Lys,pathogenic
P12883:p.Glu500Ala,pathogenic
P12883:p.Tyr501Cys,pathogenic
P12883:p.Thr509Glu,benign
P12883:p.Ile511Phe,pathogenic
P12883:p.Ile511Thr,pathogenic
P12883:p.Phe513Cys,pathogenic
P12883:p.Met515Arg,pathogenic
P12883:p.Met515Val,pathogenic
P12883:p.Leu517Met,pathogenic
P12883:p.Gly529Arg,benign
P12883:p.Ser532Pro,pathogenic
P12883:p.Ala550Val,pathogenic
P12883:p.Phe553Tyr,benign
P12883:p.Ala561Asn,benign
P12883:p.Ala561Ser,benign
P12883:p.Ile569Val,benign
P12883:p.Gly571Arg,pathogenic
P12883:p.Lys572Arg,benign
P12883:p.Pro573Gln,benign
P12883:p.His576Arg,pathogenic
P12883:p.Ser578Ala,benign
P12883:p.Ile580Val,benign
P12883:p.Gly584Arg,pathogenic
P12883:p.Gly584Ser,pathogenic
P12883:p.Ile585Thr,benign
P12883:p.Ile585Val,benign
P12883:p.Asp587Val,pathogenic
P12883:p.Ile591Leu,benign
P12883:p.Ile591Gln,benign
P12883:p.Gln595Arg,pathogenic
P12883:p.Leu601Val,pathogenic
P12883:p.Asn602Ser,pathogenic
P12883:p.Val606Met,pathogenic
P12883:p.Gly607Ala,benign
P12883:p.Gly607Asp,benign
P12883:p.Gly607Glu,benign
P12883:p.Gln610Lys,benign
P12883:p.Lys615Asn,pathogenic
P12883:p.Lys615Gln,pathogenic
P12883:p.Leu616Ile,benign
P12883:p.Leu616Met,benign
P12883:p.Ser618Gly,benign
P12883:p.Thr619Ile,benign
P12883:p.Thr619Asn,benign
P12883:p.Thr619Ser,benign
P12883:p.Ala625Leu,benign
P12883:p.Gly626Ala,benign
P12883:p.Ala627Phe,benign
P12883:p.Ala629Ser,benign
P12883:p.Ala629Thr,benign
P12883:p.Pro630Arg,benign
P12883:p.Ile631Ala,benign
P12883:p.Ile631Lys,benign
P12883:p.Ile631Pro,benign
P12883:p.Ile631Val,benign
P12883:p.Glu632Ala,benign
P12883:p.Glu632Asp,benign
P12883:p.Glu632Gly,benign
P12883:p.Glu632Ser,benign
P12883:p.Lys633Gly,benign
P12883:p.Lys633Arg,benign
P12883:p.Gly634Lys,benign
P12883:p.Lys635Arg,benign
P12883:p.Gly636Ser,benign
P12883:p.Lys637Arg,benign
P12883:p.Ser642Leu,pathogenic
P12883:p.Ala649Val,benign
P12883:p.Leu650Val,benign
P12883:p.Met659Ile,pathogenic
P12883:p.Arg663Cys,pathogenic
P12883:p.Arg663His,pathogenic
P12883:p.Arg663Ser,pathogenic
P12883:p.Ser664Cys,benign
P12883:p.Arg671Cys,pathogenic
P12883:p.Ser680Thr,benign
P12883:p.Pro681Ser,benign
P12883:p.Val683Leu,benign
P12883:p.Met684Ile,benign
P12883:p.Asp685Ile,benign
P12883:p.Asp685Leu,benign
P12883:p.Asp685Asn,benign
P12883:p.Asn686Glu,benign
P12883:p.Leu693Thr,benign
P12883:p.Arg694Cys,pathogenic
P12883:p.Arg694His,pathogenic
P12883:p.Cys695Ala,benign
P12883:p.Asn696Gly,benign
P12883:p.Asn696Ser,pathogenic
P12883:p.Gly697Pro,benign
P12883:p.Val698Ala,pathogenic
P12883:p.Val698Leu,benign
P12883:p.Ile704His,benign
P12883:p.Arg706Pro,benign
P12883:p.Lys707Arg,benign
P12883:p.Asn711Asp,benign
P12883:p.Arg712Leu,pathogenic
P12883:p.Ile713Ala,benign
P12883:p.Leu714Phe,benign
P12883:p.Gly716Arg,pathogenic
P12883:p.Gly716Thr,benign
P12883:p.Asp717Ser,benign
P12883:p.Phe718Leu,benign
P12883:p.Arg719Gln,pathogenic
P12883:p.Arg719Trp,pathogenic
P12883:p.Gln720Pro,benign
P12883:p.Tyr722Trp,benign
P12883:p.Arg723Cys,pathogenic
P12883:p.Arg723Gly,pathogenic
P12883:p.Arg723His,benign
P12883:p.Leu725Pro,benign
P12883:p.Asn726Glu,benign
P12883:p.Ala728Thr,benign
P12883:p.Ala728Val,pathogenic
P12883:p.Pro731Leu,pathogenic
P12883:p.Gly733Glu,pathogenic
P12883:p.Gln734Glu,pathogenic
P12883:p.Gln734Pro,pathogenic
P12883:p.Ile736Met,pathogenic
P12883:p.Ile736Thr,pathogenic
P12883:p.Gly741Arg,pathogenic
P12883:p.Gly741Trp,pathogenic
P12883:p.Ala742Glu,pathogenic
P12883:p.Ala742Ser,benign
P12883:p.Glu743Asp,pathogenic
P12883:p.Ser747Gly,benign
P12883:p.Lys757Arg,benign
P12883:p.Val763Gly,pathogenic
P12883:p.Val763Met,pathogenic
P12883:p.Phe764Leu,pathogenic
P12883:p.Gly768Arg,pathogenic
P12883:p.Glu774Val,pathogenic
P12883:p.Asp778Glu,pathogenic
P12883:p.Asp778Gly,pathogenic
P12883:p.Asp778Val,pathogenic
P12883:p.Arg780Lys,benign
P12883:p.Arg780Gln,benign
P12883:p.Ser782Asn,pathogenic
P12883:p.Arg787Cys,pathogenic
P12883:p.Arg787His,pathogenic
P12883:p.Val795Leu,benign
P12883:p.Leu796Phe,pathogenic
P12883:p.Ala797Ser,benign
P12883:p.Ala797Thr,pathogenic
P12883:p.Tyr801Phe,benign
P12883:p.Leu804Ile,benign
P12883:p.Leu805Val,benign
P12883:p.Ser810Ala,benign
P12883:p.Val813Ile,benign
P12883:p.Ala820Ser,benign
P12883:p.Met822Leu,pathogenic
P12883:p.Met822Thr,pathogenic
P12883:p.Gly823Glu,pathogenic
P12883:p.Gly823Ser,benign
P12883:p.Val824Ile,pathogenic
P12883:p.Tyr833Phe,benign
P12883:p.Lys841Glu,benign
P12883:p.Lys841Arg,benign
P12883:p.Glu844Ala,benign
P12883:p.Arg845Thr,benign
P12883:p.Glu846Gln,pathogenic
P12883:p.Met849Ile,benign
P12883:p.Ser851Ala,benign
P12883:p.Ser851Leu,benign
P12883:p.Ser851Asn,benign
P12883:p.Ser851Thr,benign
P12883:p.Met852Thr,pathogenic
P12883:p.Thr857Ala,benign
P12883:p.Thr857Gly,benign
P12883:p.Arg858Cys,pathogenic
P12883:p.Arg858His,pathogenic
P12883:p.Arg858Lys,benign
P12883:p.Leu859Ile,benign
P12883:p.Leu859Val,benign
P12883:p.Glu861Asp,benign
P12883:p.Ala862Ser,benign
P12883:p.Ala862Thr,benign
P12883:p.Glu867Asp,benign
P12883:p.Arg869Cys,pathogenic
P12883:p.Arg869Gly,pathogenic
P12883:p.Arg869His,pathogenic
P12883:p.Arg870Cys,pathogenic
P12883:p.Arg870His,pathogenic
P12883:p.Met877Lys,pathogenic
P12883:p.Gln882Glu,pathogenic
P12883:p.Ala893Thr,benign
P12883:p.Glu894Gly,pathogenic
P12883:p.Ala899Asn,benign
P12883:p.Ala899Ser,benign
P12883:p.Ala901Gly,pathogenic
P12883:p.Ala901Ser,benign
P12883:p.Cys905Phe,pathogenic
P12883:p.Asp906Gly,pathogenic
P12883:p.Leu908Val,pathogenic
P12883:p.Glu921Lys,pathogenic
P12883:p.Met922Ile,benign
P12883:p.Met922Gln,benign
P12883:p.Asn923Thr,benign
P12883:p.Glu924Lys,pathogenic
P12883:p.Glu924Gln,pathogenic
P12883:p.Leu926Met,benign
P12883:p.Glu927Lys,pathogenic
P12883:p.Asp928Asn,pathogenic
P12883:p.Glu930Lys,pathogenic
P12883:p.Glu931Lys,pathogenic
P12883:p.Met932Thr,benign
P12883:p.Glu935Lys,pathogenic
P12883:p.Lys942Asn,benign
P12883:p.Leu943Val,benign
P12883:p.Glu949Lys,pathogenic
P12883:p.Arg952Lys,benign
P12883:p.Asp953His,pathogenic
P12883:p.Glu967Asp,benign
P12883:p.Thr979Ala,benign
P12883:p.Ala990Val,benign
P12883:p.Ala1006Thr,benign
P12883:p.Val1017Ala,benign
P12883:p.Thr1019Asn,pathogenic
P12883:p.Ala1023Ser,benign
P12883:p.Gln1030His,benign
P12883:p.Glu1035Ala,benign
P12883:p.Glu1039Asp,benign
P12883:p.Glu1041Asp,benign
P12883:p.Val1044Ala,pathogenic
P12883:p.Val1044Ile,benign
P12883:p.Gly1057Asp,pathogenic
P12883:p.Gly1057Ser,pathogenic
P12883:p.Thr1062Ala,benign
P12883:p.Ser1065Gly,benign
P12883:p.Asp1072Ala,benign
P12883:p.Asp1077Glu,benign
P12883:p.Arg1079Lys,benign
P12883:p.Asp1084Glu,benign
P12883:p.Glu1086Asp,benign
P12883:p.Leu1087Ile,benign
P12883:p.Ala1089Gln,benign
P12883:p.Leu1090Gln,benign
P12883:p.Ala1092Ser,benign
P12883:p.Arg1093Lys,benign
P12883:p.Leu1100Val,benign
P12883:p.Gly1101Ala,benign
P12883:p.Ser1102Ile,benign
P12883:p.Ser1102Leu,benign
P12883:p.Leu1111Asn,benign
P12883:p.Ala1113Val,benign
P12883:p.Ile1115Ser,benign
P12883:p.Ile1115Val,benign
P12883:p.Glu1116Gly,benign
P12883:p.Glu1117His,benign
P12883:p.Leu1118Pro,benign
P12883:p.Glu1119Arg,benign
P12883:p.Glu1120Gly,benign
P12883:p.Glu1121Met,benign
P12883:p.Glu1123Ser,benign
P12883:p.Ala1124Pro,benign
P12883:p.Thr1127Met,benign
P12883:p.Leu1135Arg,pathogenic
P12883:p.Ser1140Thr,benign
P12883:p.Ser1158Ala,benign
P12883:p.Met1174Ile,benign
P12883:p.Arg1175Lys,benign
P12883:p.Ala1181Val,benign
P12883:p.Ala1191Thr,benign
P12883:p.Arg1193Ser,pathogenic
P12883:p.Gly1204Ser,benign
P12883:p.Glu1218Gln,pathogenic
P12883:p.Ile1239Val,benign
P12883:p.Ala1243Val,benign
P12883:p.Asn1244Gly,benign
P12883:p.Lys1247Phe,benign
P12883:p.Met1248Leu,benign
P12883:p.Met1248Val,benign
P12883:p.Cys1249Ser,benign
P12883:p.Arg1250Gln,benign
P12883:p.Thr1251Ser,benign
P12883:p.Leu1252Arg,benign
P12883:p.Glu1253Leu,benign
P12883:p.Asp1254Gly,benign
P12883:p.Gln1255Glu,benign
P12883:p.Met1256Ala,benign
P12883:p.Met1256Trp,benign
P12883:p.Asn1257Gly,benign
P12883:p.His1259Leu,benign
P12883:p.His1259Tyr,benign
P12883:p.Ser1261Ala,benign
P12883:p.Ser1261Thr,benign
P12883:p.Ser1261Val,benign
P12883:p.Lys1262Arg,benign
P12883:p.Ala1263Glu,pathogenic
P12883:p.Ala1263Gly,benign
P12883:p.Ala1263Leu,benign
P12883:p.Glu1264Gly,benign
P12883:p.Glu1265Val,benign
P12883:p.Thr1266Ala,benign
P12883:p.Thr1266Glu,benign
P12883:p.Gln1267Glu,benign
P12883:p.Ser1269Gly,benign
P12883:p.Val1270Leu,benign
P12883:p.Asn1271Thr,benign
P12883:p.Leu1273Phe,benign
P12883:p.Thr1274Pro,benign
P12883:p.Thr1274Ser,benign
P12883:p.Ser1275Arg,benign
P12883:p.Ser1275Thr,benign
P12883:p.Gln1276Glu,benign
P12883:p.Arg1277Leu,benign
P12883:p.Ala1278Ser,benign
P12883:p.Lys1279Val,benign
P12883:p.Leu1280Phe,benign
P12883:p.Gln1281Gly,benign
P12883:p.Thr1282Ala,benign
P12883:p.Glu1283Ser,benign
P12883:p.Asn1284Ser,benign
P12883:p.Ser1288Thr,benign
P12883:p.Asp1292Glu,benign
P12883:p.Leu1297Val,pathogenic
P12883:p.Thr1307Ser,benign
P12883:p.Leu1312Met,benign
P12883:p.Val1323Ala,benign
P12883:p.Val1323Gly,benign
P12883:p.Asn1327Lys,pathogenic
P12883:p.Ala1328Thr,benign
P12883:p.Ala1336Ser,benign
P12883:p.Asp1339Ala,benign
P12883:p.Cys1340Ala,benign
P12883:p.Ala1353Thr,benign
P12883:p.Glu1356Lys,pathogenic
P12883:p.Arg1359Cys,benign
P12883:p.Val1360Ala,benign
P12883:p.Thr1377Met,pathogenic
P12883:p.Ala1379Thr,pathogenic
P12883:p.Arg1382Trp,pathogenic
P12883:p.Glu1399Asp,benign
P12883:p.Leu1414Met,pathogenic
P12883:p.Arg1420Trp,pathogenic
P12883:p.Glu1426Lys,pathogenic
P12883:p.Ala1454Ser,benign
P12883:p.Ala1454Thr,pathogenic
P12883:p.Ala1454Val,benign
P12883:p.Lys1459Asn,pathogenic
P12883:p.Tyr1460Phe,benign
P12883:p.Leu1495Val,benign
P12883:p.Phe1498Ser,benign
P12883:p.Arg1500Pro,pathogenic
P12883:p.Glu1507Gly,benign
P12883:p.Thr1513Ser,pathogenic
P12883:p.Ser1518Glu,benign
P12883:p.Ser1519Gly,benign
P12883:p.Ser1519Thr,benign
P12883:p.Thr1522Asn,benign
P12883:p.Thr1522Ser,benign
P12883:p.Ile1523Ala,benign
P12883:p.Ile1523Met,benign
P12883:p.Ile1523Val,benign
P12883:p.Val1529Ile,benign
P12883:p.Ala1535Val,benign
P12883:p.Met1538Leu,benign
P12883:p.Met1538Thr,benign
P12883:p.Ser1542Ala,benign
P12883:p.Ala1547Ser,benign
P12883:p.His1553Gln,benign
P12883:p.Glu1555Lys,pathogenic
P12883:p.Lys1557Asn,benign
P12883:p.Ala1570Ser,benign
P12883:p.Glu1571Asp,benign
P12883:p.Ile1572Met,benign
P12883:p.Ala1577Val,benign
P12883:p.Val1593Met,benign
P12883:p.Asp1595Glu,benign
P12883:p.Thr1599Ser,benign
P12883:p.His1631Gln,benign
P12883:p.Arg1634Cys,pathogenic
P12883:p.Met1635Ile,benign
P12883:p.Met1635Leu,benign
P12883:p.Met1635Thr,benign
P12883:p.Met1635Val,benign
P12883:p.Ala1637Ser,benign
P12883:p.Ala1637Thr,benign
P12883:p.Ala1639Ser,benign
P12883:p.Gln1642His,benign
P12883:p.Val1643Ala,benign
P12883:p.Val1643Leu,benign
P12883:p.Ser1645Gly,benign
P12883:p.Ser1645Ile,benign
P12883:p.Ser1645Asn,benign
P12883:p.Ser1645Thr,benign
P12883:p.Ser1645Val,benign
P12883:p.Leu1646Ala,benign
P12883:p.Leu1646Ser,benign
P12883:p.Ser1648Ala,benign
P12883:p.Ser1648Gly,benign
P12883:p.Leu1649His,benign
P12883:p.Ile1655Leu,benign
P12883:p.Ala1660Ser,benign
P12883:p.Val1661Ile,benign
P12883:p.Val1661Leu,benign
P12883:p.Arg1662His,benign
P12883:p.Ala1663Pro,pathogenic
P12883:p.Ala1663Val,benign
P12883:p.Ile1671Met,benign
P12883:p.Asn1678Thr,benign
P12883:p.Asn1679Ser,benign
P12883:p.Asn1679Thr,benign
P12883:p.Leu1680Arg,benign
P12883:p.Gln1682Arg,benign
P12883:p.Ala1690Gly,benign
P12883:p.Val1691Met,benign
P12883:p.Ser1698Ala,benign
P12883:p.Lys1700Glu,benign
P12883:p.Leu1701Ala,benign
P12883:p.Ala1702Gly,benign
P12883:p.Ala1702Val,benign
P12883:p.Leu1706Pro,pathogenic
P12883:p.Arg1712Gly,benign
P12883:p.Arg1712Trp,pathogenic
P12883:p.Val1713Gly,benign
P12883:p.Asp1731Glu,benign
P12883:p.Ala1732Leu,benign
P12883:p.Ala1732Ser,benign
P12883:p.Ser1735Ile,benign
P12883:p.Ser1735Thr,benign
P12883:p.Gln1736Gly,benign
P12883:p.Gln1736His,benign
P12883:p.Leu1737Phe,benign
P12883:p.Gln1738His,benign
P12883:p.Gln1738Leu,benign
P12883:p.Thr1739Ala,benign
P12883:p.Thr1739Gly,benign
P12883:p.Thr1739Ser,benign
P12883:p.Glu1740Pro,benign
P12883:p.Val1741Leu,benign
P12883:p.Glu1742Ser,benign
P12883:p.Ala1744Ser,benign
P12883:p.Cys1748Gly,benign
P12883:p.Cys1748Ser,benign
P12883:p.Asn1750Asp,benign
P12883:p.Asn1750Lys,benign
P12883:p.Glu1753Lys,pathogenic
P12883:p.Ile1759Cys,benign
P12883:p.Thr1760Pro,benign
P12883:p.Asp1761Gln,benign
P12883:p.Ala1762Val,benign
P12883:p.Ala1763Ser,benign
P12883:p.Glu1768Lys,pathogenic
P12883:p.Ser1776Gly,pathogenic
P12883:p.Ala1777Thr,pathogenic
P12883:p.His1778Tyr,benign
P12883:p.Lys1783Arg,benign
P12883:p.Lys1784Glu,benign
P12883:p.Lys1784Asn,benign
P12883:p.Lys1806Arg,benign
P12883:p.Arg1818Thr,benign
P12883:p.Arg1820Lys,benign
P12883:p.Glu1821Lys,benign
P12883:p.Leu1822Thr,benign
P12883:p.Glu1823Lys,benign
P12883:p.Asn1824Gly,benign
P12883:p.Asn1824Ser,benign
P12883:p.Glu1825Gly,benign
P12883:p.Leu1826Val,benign
P12883:p.Glu1827Gln,benign
P12883:p.Ala1828Ser,benign
P12883:p.Ala1828Thr,benign
P12883:p.Ala1828Val,benign
P12883:p.Glu1829Leu,benign
P12883:p.Gln1830Ser,benign
P12883:p.Lys1831Pro,benign
P12883:p.Arg1832Val,benign
P12883:p.Asn1833Ser,benign
P12883:p.Asn1833Thr,benign
P12883:p.Ala1834Val,benign
P12883:p.Glu1835Pro,benign
P12883:p.Val1837Ile,benign
P12883:p.Val1837Leu,benign
P12883:p.Lys1838Pro,benign
P12883:p.Gly1839Pro,benign
P12883:p.Met1840Ala,benign
P12883:p.Arg1841Pro,benign
P12883:p.Ser1843Cys,benign
P12883:p.Arg1845Trp,pathogenic
P12883:p.Thr1854Met,pathogenic
P12883:p.Arg1858Lys,benign
P12883:p.Lys1879Asn,benign
P12883:p.Glu1883Lys,pathogenic
P12883:p.His1901Leu,pathogenic
P12883:p.Ile1912Val,benign
P12883:p.Ala1913Trp,benign
P12883:p.Glu1914Ala,benign
P12883:p.Ser1915Gly,benign
P12883:p.Asn1918Leu,benign
P12883:p.Gly1928Ser,benign
P12883:p.Thr1929Ala,benign
P12883:p.Thr1929Lys,benign
P12883:p.Thr1929Met,pathogenic
P12883:p.Lys1930Gln,benign
P12883:p.Gly1931Ala,benign
P12883:p.Gly1931Lys,benign
P12883:p.Gly1931Leu,benign
P12883:p.Gly1931Met,benign
P12883:p.Gly1931Ser,benign
P12883:p.Gly1931Val,benign
P12883:p.Leu1932His,benign
P12883:p.Leu1932Ile,benign
P12883:p.Leu1932Met,benign
P12883:p.Leu1932Ser,benign
P12883:p.Asn1933Asp,benign
P12883:p.Asn1933Gly,benign
P12883:p.Asn1933His,benign
P12883:p.Asn1933Ser,benign
P12883:p.Glu1934Ala,benign
P12883:p.Glu1934Asp,benign
P12883:p.Glu1934Leu,benign
P12883:p.Glu1935Cys,benign
P12883:p.Glu1935Pro,benign
Q13402:p.Met1Ala,benign
Q13402:p.Met1Gly,benign
Q13402:p.Met1Leu,benign
Q13402:p.Met1Ser,benign
Q13402:p.Met1Thr,benign
Q13402:p.Met1Trp,benign
Q13402:p.Met1Tyr,benign
Q13402:p.Val2Ala,benign
Q13402:p.Val2Asp,benign
Q13402:p.Val2Phe,benign
Q13402:p.Val2Leu,benign
Q13402:p.Val2Ser,benign
Q13402:p.Val2Thr,benign
Q13402:p.Val2Tyr,benign
Q13402:p.Ile3Ala,benign
Q13402:p.Ile3His,benign
Q13402:p.Ile3Leu,benign
Q13402:p.Ile3Pro,benign
Q13402:p.Ile3Ser,benign
Q13402:p.Ile3Val,benign
Q13402:p.Leu4Phe,benign
Q13402:p.Leu4His,benign
Q13402:p.Leu4Met,benign
Q13402:p.Leu4Pro,benign
Q13402:p.Leu4Gln,benign
Q13402:p.Leu4Ser,benign
Q13402:p.Leu4Val,benign
Q13402:p.Gln5Lys,benign
Q13402:p.Gln5Leu,benign
Q13402:p.Gln5Met,benign
Q13402:p.Gln5Pro,benign
Q13402:p.Gln5Arg,benign
Q13402:p.Gln6Ala,benign
Q13402:p.Gln6Lys,benign
Q13402:p.Gln6Leu,benign
Q13402:p.Gln6Pro,benign
Q13402:p.His9Tyr,benign
Q13402:p.Arg15Lys,benign
Q13402:p.Arg15Gln,benign
Q13402:p.Leu16Ser,pathogenic
Q13402:p.Glu19Asp,benign
Q13402:p.Gly25Arg,pathogenic
Q13402:p.Ala26Glu,pathogenic
Q13402:p.Val27Met,benign
Q13402:p.Asp32Glu,benign
Q13402:p.Val36Ile,benign
Q13402:p.Gln37His,benign
Q13402:p.Gln37Leu,benign
Q13402:p.Val39Met,benign
Q13402:p.Asp43Gly,benign
Q13402:p.Asn44His,benign
Q13402:p.Glu45Asp,benign
Q13402:p.Ile48Val,benign
Q13402:p.Ser49Thr,benign
Q13402:p.Gln51His,benign
Q13402:p.Asn52His,benign
Q13402:p.Asn52Lys,benign
Q13402:p.Asn52Ser,benign
Q13402:p.Asn52Thr,benign
Q13402:p.Ala53Ser,benign
Q13402:p.Thr54Met,benign
Q13402:p.Thr54Arg,benign
Q13402:p.His55Asn,benign
Q13402:p.Ile56Val,benign
Q13402:p.Val64Ile,benign
Q13402:p.His65Gln,benign
Q13402:p.Val67Met,pathogenic
Q13402:p.Glu68Gln,benign
Q13402:p.Arg90Pro,pathogenic
Q13402:p.Asp91Glu,benign
Q13402:p.Ser112Pro,benign
Q13402:p.Ser112Thr,benign
Q13402:p.Pro116Ser,benign
Q13402:p.Glu117Gln,benign
Q13402:p.Glu117Arg,benign
Q13402:p.His118Asn,benign
Q13402:p.Lys125Arg,benign
Q13402:p.Pro131Ser,benign
Q13402:p.His133Asp,pathogenic
Q13402:p.Ile134Asn,pathogenic
Q13402:p.Asn144Ser,benign
Q13402:p.Lys146Gln,benign
Q13402:p.Asn148His,benign
Q13402:p.Asn148Ser,benign
Q13402:p.Ser149Gly,benign
Q13402:p.Ser149Ile,benign
Q13402:p.Ser149Asn,benign
Q13402:p.Gly163Arg,pathogenic
Q13402:p.Lys164Arg,pathogenic
Q13402:p.Thr165Met,pathogenic
Q13402:p.Ile171Met,benign
Q13402:p.Ile178Val,benign
Q13402:p.Ala198Thr,pathogenic
Q13402:p.Thr204Ala,pathogenic
Q13402:p.Arg212Cys,pathogenic
Q13402:p.Arg212His,pathogenic
Q13402:p.Gly214Arg,pathogenic
Q13402:p.Ile217Val,benign
Q13402:p.Asn222Ser,benign
Q13402:p.Asn222Thr,benign
Q13402:p.Lys223Thr,benign
Q13402:p.Lys231Arg,benign
Q13402:p.Arg241Cys,pathogenic
Q13402:p.Arg241Ser,pathogenic
Q13402:p.Arg244Pro,pathogenic
Q13402:p.Ala246Cys,benign
Q13402:p.Leu247Pro,benign
Q13402:p.Leu247Ser,benign
Q13402:p.Leu247Thr,benign
Q13402:p.Asp248Ser,benign
Q13402:p.Glu249Leu,benign
Q13402:p.Arg250Ala,benign
Q13402:p.Asn251Gly,benign
Q13402:p.Tyr252Ala,benign
Q13402:p.Val254Ile,benign
Q13402:p.Val254Leu,benign
Q13402:p.Phe255Leu,benign
Q13402:p.Tyr256His,benign
Q13402:p.Met258Gly,benign
Q13402:p.Leu259Ser,benign
Q13402:p.Glu260Ala,benign
Q13402:p.Glu260Pro,benign
Q13402:p.Gly261Ser,benign
Q13402:p.Met262Ser,benign
Q13402:p.Ser263Gly,benign
Q13402:p.Ser263Asn,benign
Q13402:p.Ser263Pro,benign
Q13402:p.Glu264Ala,benign
Q13402:p.Glu264Lys,benign
Q13402:p.Glu264Gln,benign
Q13402:p.Glu264Val,benign
Q13402:p.Asp265Ala,benign
Q13402:p.Asp265Glu,benign
Q13402:p.Asp265Gly,benign
Q13402:p.Asp265Gln,benign
Q13402:p.Gln266Glu,benign
Q13402:p.Gln266Pro,benign
Q13402:p.Lys267Leu,benign
Q13402:p.Lys267Arg,benign
Q13402:p.Lys268Ala,benign
Q13402:p.Lys268Gln,benign
Q13402:p.Lys268Arg,benign
Q13402:p.Lys269Gln,benign
Q13402:p.Lys269Arg,benign
Q13402:p.Leu270Ile,benign
Q13402:p.Gly273Glu,benign
Q13402:p.Gln274Glu,benign
Q13402:p.Gln274Gly,benign
Q13402:p.Gln274His,benign
Q13402:p.Gln274Arg,benign
Q13402:p.Ser276Ala,benign
Q13402:p.Ser276Asn,benign
Q13402:p.Ser276Thr,benign
Q13402:p.Asp277Glu,benign
Q13402:p.Asn285Ser,benign
Q13402:p.Ile287Thr,benign
Q13402:p.Ile287Val,benign
Q13402:p.Thr288Ala,benign
Q13402:p.Thr288Ile,benign
Q13402:p.Thr288Val,benign
Q13402:p.Glu290Asp,benign
Q13402:p.Val293Glu,benign
Q13402:p.Asn300Ser,benign
Q13402:p.Arg302Cys,benign
Q13402:p.Lys306Arg,benign
Q13402:p.Met309Leu,benign
Q13402:p.Ser319Leu,benign
Q13402:p.Ala324Ser,benign
Q13402:p.Ala324Thr,benign
Q13402:p.Leu328Met,benign
Q13402:p.Gln332Glu,benign
Q13402:p.Gln332Asn,benign
Q13402:p.Glu334Lys,benign
Q13402:p.Ala335Asp,benign
Q13402:p.Thr337Met,benign
Q13402:p.Ala343Ser,benign
Q13402:p.Leu347Ile,benign
Q13402:p.Pro350Thr,benign
Q13402:p.Ser351Ala,benign
Q13402:p.Ser351Cys,benign
Q13402:p.Ala353Thr,benign
Q13402:p.Ala355Thr,benign
Q13402:p.Ala355Val,benign
Q13402:p.Ser357Thr,benign
Q13402:p.Leu358His,benign
Q13402:p.Pro363Ser,benign
Q13402:p.Pro364Gln,benign
Q13402:p.Pro364Arg,benign
Q13402:p.Pro364Ser,benign
Q13402:p.Asp365Ala,benign
Q13402:p.Asp365Lys,benign
Q13402:p.Asp365Asn,benign
Q13402:p.Leu366Val,benign
Q13402:p.Ser368Asn,benign
Q13402:p.Ser368Thr,benign
Q13402:p.Arg373His,benign
Q13402:p.Leu375Ile,benign
Q13402:p.Pro385Leu,benign
Q13402:p.Arg388Lys,benign
Q13402:p.Arg388Met,benign
Q13402:p.Glu389Asp,benign
Q13402:p.Ala397Asp,pathogenic
Q13402:p.Asp412Glu,benign
Q13402:p.Ile414Val,benign
Q13402:p.Ala416Val,benign
Q13402:p.Tyr419His,benign
Q13402:p.Pro422Ala,benign
Q13402:p.Ser423Pro,benign
Q13402:p.Gln424His,benign
Q13402:p.Gln424Leu,benign
Q13402:p.Asp425Glu,benign
Q13402:p.Asp425Gly,benign
Q13402:p.Val426Met,benign
Q13402:p.Val426Thr,benign
Q13402:p.Lys427Glu,benign
Q13402:p.Lys427Asn,benign
Q13402:p.Lys427Gln,benign
Q13402:p.Lys427Arg,benign
Q13402:p.Lys427Thr,benign
Q13402:p.Asn428Ser,benign
Q13402:p.Ser429Cys,benign
Q13402:p.Ser429Pro,benign
Q13402:p.Arg430Cys,benign
Q13402:p.Asn443Lys,benign
Q13402:p.Ala445Ser,benign
Q13402:p.Ala445Thr,benign
Q13402:p.Val446Ile,benign
Q13402:p.Glu450Gln,pathogenic
Q13402:p.Leu452Phe,benign
Q13402:p.Phe456Leu,benign
Q13402:p.Ala457Val,pathogenic
Q13402:p.Asn458Ile,pathogenic
Q13402:p.Asp483Gly,benign
Q13402:p.Asp483Asn,benign
Q13402:p.Asp494Glu,benign
Q13402:p.Ala495Thr,benign
Q13402:p.Met498Leu,benign
Q13402:p.Asn501Ser,benign
Q13402:p.Lys502Arg,benign
Q13402:p.Pro503Leu,pathogenic
Q13402:p.Ile506Val,benign
Q13402:p.Ile510Leu,benign
Q13402:p.Lys518Arg,benign
Q13402:p.Gly519Asp,pathogenic
Q13402:p.Thr520Leu,benign
Q13402:p.Thr522Ala,benign
Q13402:p.Thr523His,benign
Q13402:p.Met524Leu,benign
Q13402:p.Leu525Ser,benign
Q13402:p.His526Asn,benign
Q13402:p.His526Arg,benign
Q13402:p.His526Tyr,benign
Q13402:p.Lys527Trp,benign
Q13402:p.Asn529Gln,benign
Q13402:p.Ser530Phe,benign
Q13402:p.Gln531Lys,benign
Q13402:p.His532Tyr,benign
Q13402:p.Lys533Cys,benign
Q13402:p.Lys533Arg,benign
Q13402:p.Leu534Ser,benign
Q13402:p.Leu534Val,benign
Q13402:p.Asn535Thr,benign
Q13402:p.Ala536Met,benign
Q13402:p.Ala536Asn,benign
Q13402:p.Ala536Pro,benign
Q13402:p.Ala536Arg,benign
Q13402:p.Ala536Ser,benign
Q13402:p.Ala536Thr,benign
Q13402:p.Asn537Thr,benign
Q13402:p.Tyr538Ser,benign
Q13402:p.Ile539Phe,benign
Q13402:p.Ile539Val,benign
Q13402:p.Asn544Ala,benign
Q13402:p.Asn544Ser,benign
Q13402:p.His545Tyr,benign
Q13402:p.Glu546Asp,benign
Q13402:p.Gly550Trp,benign
Q13402:p.Ile551His,benign
Q13402:p.Asn552Ile,benign
Q13402:p.Asn552Gln,benign
Q13402:p.His553Pro,benign
Q13402:p.Phe554Leu,benign
Q13402:p.Ile557Val,benign
Q13402:p.Thr562Ser,benign
Q13402:p.His582Tyr,benign
Q13402:p.Arg585Trp,benign
Q13402:p.Ile589Val,benign
Q13402:p.Ile592Leu,benign
Q13402:p.Ala595Thr,benign
Q13402:p.Met599Cys,benign
Q13402:p.Met599Ile,pathogenic
Q13402:p.Gly600Pro,benign
Q13402:p.Ala601Phe,benign
Q13402:p.Ala601Arg,benign
Q13402:p.Ala601Ser,benign
Q13402:p.Glu602His,benign
Q13402:p.Glu602Leu,benign
Q13402:p.Thr603Gly,benign
Q13402:p.Thr603Leu,benign
Q13402:p.Arg604Ala,benign
Q13402:p.Arg604Lys,benign
Q13402:p.Lys605His,benign
Q13402:p.Lys605Arg,benign
Q13402:p.Arg606Gly,benign
Q13402:p.Arg606Gln,benign
Q13402:p.Ser607Leu,benign
Q13402:p.Ser607Val,benign
Q13402:p.Ser607Trp,benign
Q13402:p.Pro608Arg,benign
Q13402:p.Thr609Ala,benign
Q13402:p.Thr609Arg,benign
Q13402:p.Ser611Pro,benign
Q13402:p.Ser612Cys,benign
Q13402:p.Ser612Pro,benign
Q13402:p.Phe614Ile,benign
Q13402:p.Lys615Glu,benign
Q13402:p.Lys615Arg,benign
Q13402:p.Arg616Gln,benign
Q13402:p.Arg616Thr,benign
Q13402:p.Ser617Ala,benign
Q13402:p.Leu618Ala,benign
Q13402:p.Leu618Pro,benign
Q13402:p.Glu619Pro,benign
Q13402:p.Glu619Trp,benign
Q13402:p.Leu620Met,benign
Q13402:p.Leu620Gln,benign
Q13402:p.Met622Arg,benign
Q13402:p.Arg623Pro,benign
Q13402:p.Gly626Ser,benign
Q13402:p.Ala627Gly,benign
Q13402:p.Ala627Ser,benign
Q13402:p.Leu646Arg,benign
Q13402:p.His650Leu,benign
Q13402:p.His650Pro,benign
Q13402:p.His650Tyr,benign
Q13402:p.Leu651Pro,pathogenic
Q13402:p.Val653Ile,benign
Q13402:p.Glu663Lys,benign
Q13402:p.Arg669His,benign
Q13402:p.Glu680Gln,benign
Q13402:p.Leu689Gln,benign
Q13402:p.Ala695Val,benign
Q13402:p.Lys697Gln,benign
Q13402:p.Lys697Tyr,benign
Q13402:p.Gln698Lys,benign
Q13402:p.Gly699Asp,benign
Q13402:p.Gly699Glu,benign
Q13402:p.Gly699Asn,benign
Q13402:p.Gly699Gln,benign
Q13402:p.Asp700Asn,benign
Q13402:p.Asp700Val,benign
Q13402:p.Leu701Arg,benign
Q13402:p.Leu701Tyr,benign
Q13402:p.Arg702Lys,benign
Q13402:p.Arg702Gln,benign
Q13402:p.Gly703Pro,benign
Q13402:p.Gly703Gln,benign
Q13402:p.Thr704Arg,benign
Q13402:p.Thr704Val,benign
Q13402:p.Cys705Ala,benign
Q13402:p.Cys705Arg,benign
Q13402:p.Gln706Glu,benign
Q13402:p.Gln706Arg,benign
Q13402:p.Arg707His,benign
Q13402:p.Arg707Pro,benign
Q13402:p.Met708Ile,benign
Q13402:p.Met708Leu,benign
Q13402:p.Met708Arg,benign
Q13402:p.Ala711Thr,benign
Q13402:p.Ala711Val,benign
Q13402:p.Thr715Ala,benign
Q13402:p.Thr715Val,benign
Q13402:p.His716Gln,benign
Q13402:p.His716Tyr,benign
Q13402:p.Ile721Met,benign
Q13402:p.Gly722Arg,pathogenic
Q13402:p.Lys723Arg,benign
Q13402:p.Ile726Val,benign
Q13402:p.Asp730Arg,benign
Q13402:p.His732Glu,benign
Q13402:p.Asp733Gly,benign
Q13402:p.Met734Leu,benign
Q13402:p.Met734Ser,benign
Q13402:p.Leu735Met,benign
Q13402:p.Leu736Ala,benign
Q13402:p.Val738Cys,benign
Q13402:p.Val738Met,benign
Q13402:p.Glu739Lys,benign
Q13402:p.Arg740Gly,benign
Q13402:p.Asp741Gly,benign
Q13402:p.Lys742Pro,benign
Q13402:p.Ala743Glu,benign
Q13402:p.Asp746Asn,benign
Q13402:p.Val754Ile,benign
Q13402:p.Arg756Trp,pathogenic
Q13402:p.Asn763His,benign
Q13402:p.Phe764Tyr,benign
Q13402:p.Lys766Arg,benign
Q13402:p.Asn769Ser,benign
Q13402:p.Thr772Met,benign
Q13402:p.Leu773Val,benign
Q13402:p.Arg776Lys,benign
Q13402:p.His777Tyr,benign
Q13402:p.His781Arg,benign
Q13402:p.His781Tyr,benign
Q13402:p.Asn782His,benign
Q13402:p.Asn782Ser,benign
Q13402:p.Asn782Thr,benign
Q13402:p.Asn782Tyr,benign
Q13402:p.Lys785Arg,benign
Q13402:p.Asn786Ser,benign
Q13402:p.Gly788Glu,benign
Q13402:p.Leu789Met,benign
Q13402:p.Met790Ile,benign
Q13402:p.Met790Val,benign
Q13402:p.Arg791Ser,benign
Q13402:p.Leu792Met,benign
Q13402:p.Phe794Leu,benign
Q13402:p.Arg796Phe,benign
Q13402:p.Leu797Ala,benign
Q13402:p.Gln798Ser,benign
Q13402:p.Ala799Pro,benign
Q13402:p.Leu800His,benign
Q13402:p.His801Cys,benign
Q13402:p.His801Gln,benign
Q13402:p.Arg802His,benign
Q13402:p.Ser803Ala,benign
Q13402:p.Ser803Thr,benign
Q13402:p.Arg804Gln,benign
Q13402:p.Lys805Met,benign
Q13402:p.Lys805Arg,benign
Q13402:p.Leu806Met,benign
Q13402:p.His807Gln,benign
Q13402:p.Gln808Glu,benign
Q13402:p.Gln808Phe,benign
Q13402:p.Gln808Lys,benign
Q13402:p.Gln808Leu,benign
Q13402:p.Gln809His,benign
Q13402:p.Gln809Lys,benign
Q13402:p.Gln809Arg,benign
Q13402:p.Tyr810Pro,benign
Q13402:p.Tyr810Ser,benign
Q13402:p.Arg811Cys,benign
Q13402:p.Arg811Gly,benign
Q13402:p.Arg811His,benign
Q13402:p.Ala813Pro,benign
Q13402:p.Gln815Gly,benign
Q13402:p.Gln815Arg,benign
Q13402:p.Gln815Trp,benign
Q13402:p.Arg816His,benign
Q13402:p.Arg816Ser,benign
Q13402:p.Ile817Leu,benign
Q13402:p.Ile817Met,benign
Q13402:p.Ile817Val,benign
Q13402:p.Ile818Thr,benign
Q13402:p.Ile818Val,benign
Q13402:p.Gln819Glu,benign
Q13402:p.Gln819Gly,benign
Q13402:p.Gln819Lys,benign
Q13402:p.Gln819Asn,benign
Q13402:p.Gln821Arg,benign
Q13402:p.Ala826Gly,benign
Q13402:p.Ala826Thr,pathogenic
Q13402:p.Lys831Arg,benign
Q13402:p.Val840Leu,benign
Q13402:p.Leu841Phe,benign
Q13402:p.Leu841Ile,benign
Q13402:p.Val843Leu,benign
Q13402:p.Met850Leu,benign
Q13402:p.Arg853Cys,pathogenic
Q13402:p.Leu855Val,benign
Q13402:p.His856Tyr,benign
Q13402:p.Gln857Arg,benign
Q13402:p.Arg860Lys,benign
Q13402:p.Ala861Gly,benign
Q13402:p.Ala861Val,benign
Q13402:p.Leu864Gln,benign
Q13402:p.Leu864Arg,benign
Q13402:p.Leu864Trp,benign
Q13402:p.Trp865Arg,benign
Q13402:p.Lys871Arg,benign
Q13402:p.Met872Leu,benign
Q13402:p.Glu878Gln,benign
Q13402:p.Lys887Arg,benign
Q13402:p.Lys888Arg,benign
Q13402:p.Glu899Ala,benign
Q13402:p.Arg906Cys,benign
Q13402:p.Asp908Ser,benign
Q13402:p.Glu910Ala,benign
Q13402:p.Lys914Arg,benign
Q13402:p.Lys916Arg,benign
Q13402:p.Glu917Ala,benign
Q13402:p.Ala918Glu,benign
Q13402:p.Ala918Lys,benign
Q13402:p.Ala919Ser,benign
Q13402:p.Arg921Lys,benign
Q13402:p.Arg921Gln,benign
Q13402:p.Glu927Gln,benign
Q13402:p.Gln928Arg,benign
Q13402:p.Arg931Lys,benign
Q13402:p.His934Gln,benign
Q13402:p.His934Arg,benign
Q13402:p.Glu935Gln,benign
Q13402:p.Val937Ile,benign
Q13402:p.Asn938Ser,benign
Q13402:p.Lys945Arg,benign
Q13402:p.Met946Arg,pathogenic
Q13402:p.Ser953Pro,benign
Q13402:p.Ser953Thr,benign
Q13402:p.Gly954Ala,benign
Q13402:p.Gly954Ser,benign
Q13402:p.Gly955Ser,pathogenic
Q13402:p.Leu956Ala,benign
Q13402:p.Gly958Asp,benign
Q13402:p.Gln959Arg,benign
Q13402:p.Gly961Asp,benign
Q13402:p.Ser965Arg,benign
Q13402:p.Glu968Asp,pathogenic
Q13402:p.Arg972His,benign
Q13402:p.Arg972Gln,benign
Q13402:p.Arg974Gln,benign
Q13402:p.Arg975Thr,benign
Q13402:p.Glu976Asp,benign
Q13402:p.Val978Leu,benign
Q13402:p.Leu982Val,benign
Q13402:p.Ala984Ser,benign
Q13402:p.Ala984Thr,benign
Q13402:p.Ala984Val,benign
Q13402:p.Asp990Glu,benign
Q13402:p.Glu991Asp,benign
Q13402:p.Asp992Glu,benign
Q13402:p.Glu998Asp,benign
Q13402:p.Ala1005Gly,benign
Q13402:p.Ala1005Ser,benign
Q13402:p.Thr1014Met,benign
Q13402:p.Ser1016Thr,benign
Q13402:p.Thr1018Asn,benign
Q13402:p.Lys1023Arg,benign
Q13402:p.Tyr1028Phe,benign
Q13402:p.His1029Gln,benign
Q13402:p.Asp1030Glu,benign
Q13402:p.Asp1030Ser,benign
Q13402:p.Glu1032Ala,benign
Q13402:p.Asp1034Asn,benign
Q13402:p.Ile1043Val,benign
Q13402:p.Ile1045Val,benign
Q13402:p.Lys1056Arg,benign
Q13402:p.Thr1059Met,benign
Q13402:p.Asp1063Asn,benign
Q13402:p.Gly1064Ser,benign
Q13402:p.Lys1067Asn,benign
Q13402:p.Ile1068Val,benign
Q13402:p.Lys1080Arg,benign
Q13402:p.Thr1082Met,benign
Q13402:p.Lys1084Arg,benign
Q13402:p.Leu1087Pro,pathogenic
Q13402:p.Ala1089Thr,benign
Q13402:p.Gly1094Ser,benign
Q13402:p.Ala1096Thr,benign
Q13402:p.Gln1097Pro,benign
Q13402:p.Leu1098Val,benign
Q13402:p.Pro1099Ala,benign
Q13402:p.Pro1099Ser,benign
Q13402:p.Pro1099Thr,benign
Q13402:p.Glu1100Asp,benign
Q13402:p.Gln1102Leu,benign
Q13402:p.Gln1102Pro,benign
Q13402:p.Lys1103Arg,benign
Q13402:p.Lys1104Arg,benign
Q13402:p.Ser1105Arg,benign
Q13402:p.Ser1105Thr,benign
Q13402:p.Ser1106Thr,benign
Q13402:p.Val1107Met,benign
Q13402:p.Arg1108Lys,benign
Q13402:p.Glu1124Gly,benign
Q13402:p.Val1126Asp,benign
Q13402:p.Thr1127Ser,benign
Q13402:p.Lys1128Gln,benign
Q13402:p.Lys1128Val,benign
Q13402:p.Leu1130Ala,benign
Q13402:p.Leu1130Cys,benign
Q13402:p.His1131Asp,benign
Q13402:p.His1131Asn,benign
Q13402:p.Asp1132Gln,benign
Q13402:p.Gly1133Ala,benign
Q13402:p.Gly1133Pro,benign
Q13402:p.Ser1135Pro,benign
Q13402:p.Thr1136Met,benign
Q13402:p.Val1137Ala,benign
Q13402:p.Val1137Met,benign
Q13402:p.Gln1138His,benign
Q13402:p.Gln1138Arg,benign
Q13402:p.Ile1157Val,benign
Q13402:p.Ile1158Val,benign
Q13402:p.Ala1166Gly,benign
Q13402:p.Ala1166Thr,benign
Q13402:p.Glu1170Lys,pathogenic
Q13402:p.Ile1175Leu,benign
Q13402:p.His1181Tyr,benign
Q13402:p.Val1195Met,benign
Q13402:p.Tyr1211Phe,benign
Q13402:p.Phe1235Ser,benign
Q13402:p.Arg1240Gln,pathogenic
Q13402:p.Glu1248His,benign
Q13402:p.Glu1248Lys,pathogenic
Q13402:p.Thr1274Ala,benign
Q13402:p.Lys1281Arg,benign
Q13402:p.Asn1285Asp,benign
Q13402:p.Asn1285Lys,benign
Q13402:p.Asn1285Ser,benign
Q13402:p.Ala1286Thr,benign
Q13402:p.Ala1288Pro,pathogenic
Q13402:p.Ile1291Thr,benign
Q13402:p.Ile1291Val,benign
Q13402:p.Lys1294His,benign
Q13402:p.Lys1294Arg,benign
Q13402:p.Arg1296His,benign
Q13402:p.Ile1303Val,benign
Q13402:p.Ser1310Val,benign
Q13402:p.Gly1315Ser,benign
Q13402:p.Ile1323Val,benign
Q13402:p.Glu1327Lys,pathogenic
Q13402:p.Ala1340Thr,benign
Q13402:p.Arg1343Ser,pathogenic
Q13402:p.Thr1352Ala,benign
Q13402:p.Ser1356Asn,benign
Q13402:p.Pro1357Ser,benign
Q13402:p.Ser1358Ala,benign
Q13402:p.Glu1359Asp,benign
Q13402:p.Asn1361Ser,benign
Q13402:p.Asn1365His,benign
Q13402:p.Arg1381Lys,benign
Q13402:p.Ser1402Cys,benign
Q13402:p.Ile1405Val,benign
Q13402:p.Asn1411Ser,benign
Q13402:p.Asn1411Thr,benign
Q13402:p.Tyr1416Ser,benign
Q13402:p.Ile1417Leu,benign
Q13402:p.Ile1417Val,benign
Q13402:p.Asp1419Ala,benign
Q13402:p.Ile1422Val,benign
Q13402:p.Pro1424Ser,benign
Q13402:p.Leu1425Met,benign
Q13402:p.Lys1426Arg,benign
Q13402:p.Lys1426Thr,benign
Q13402:p.Thr1427Asn,benign
Q13402:p.Leu1428Arg,benign
Q13402:p.Gln1433His,benign
Q13402:p.Ala1445Thr,benign
Q13402:p.Asp1450Glu,benign
Q13402:p.Ala1451Ser,benign
Q13402:p.Glu1456Gln,benign
Q13402:p.Ser1460Asn,benign
Q13402:p.Ala1476Val,benign
Q13402:p.Tyr1477Phe,benign
Q13402:p.Phe1479Cys,benign
Q13402:p.Ser1483His,benign
Q13402:p.Ser1483Asn,benign
Q13402:p.Ser1483Pro,benign
Q13402:p.Ser1483Thr,benign
Q13402:p.Lys1486Arg,benign
Q13402:p.Asn1487Ser,benign
Q13402:p.Asp1488Glu,benign
Q13402:p.Val1498Ile,benign
Q13402:p.Ile1516Leu,benign
Q13402:p.Met1517Leu,benign
Q13402:p.Met1517Thr,benign
Q13402:p.Val1519Met,benign
Q13402:p.Glu1524Arg,benign
Q13402:p.Cys1525Glu,benign
Q13402:p.Cys1525Phe,benign
Q13402:p.Arg1526Cys,benign
Q13402:p.Val1527Ile,benign
Q13402:p.Val1527Arg,benign
Q13402:p.Trp1528Leu,benign
Q13402:p.Trp1528Ser,benign
Q13402:p.Trp1528Val,benign
Q13402:p.Ser1530Leu,benign
Q13402:p.Leu1531Ser,benign
Q13402:p.Gly1532Arg,benign
Q13402:p.Cys1533Gln,benign
Q13402:p.Ser1534Ala,benign
Q13402:p.Asp1535Ala,benign
Q13402:p.Asp1535Glu,benign
Q13402:p.Asp1535Gly,benign
Q13402:p.Leu1536Ala,benign
Q13402:p.Gly1537Thr,benign
Q13402:p.Cys1538Trp,benign
Q13402:p.Ala1540Glu,benign
Q13402:p.Ala1540Gly,benign
Q13402:p.Ala1540Ser,benign
Q13402:p.Ala1540Thr,benign
Q13402:p.Ala1540Val,benign
Q13402:p.Pro1541Cys,benign
Q13402:p.Pro1541Asp,benign
Q13402:p.Pro1541Ser,benign
Q13402:p.Pro1541Thr,benign
Q13402:p.His1542Gln,benign
Q13402:p.His1542Arg,benign
Q13402:p.Ser1543Leu,benign
Q13402:p.Ser1543Pro,benign
Q13402:p.Trp1545Arg,benign
Q13402:p.Leu1548Val,benign
Q13402:p.Thr1549Ile,benign
Q13402:p.Thr1549Ser,benign
Q13402:p.Pro1550Met,benign
Q13402:p.Ala1551Asp,benign
Q13402:p.Ala1551Ser,benign
Q13402:p.Ala1551Thr,benign
Q13402:p.Pro1553Ala,benign
Q13402:p.Pro1553Ser,benign
Q13402:p.Cys1554Ser,benign
Q13402:p.Pro1556Leu,benign
Q13402:p.Pro1556Ser,benign
Q13402:p.Cys1557Tyr,benign
Q13402:p.Cys1560Ser,benign
Q13402:p.Ala1563Thr,benign
Q13402:p.Ala1563Val,benign
Q13402:p.Lys1564Asn,benign
Q13402:p.Thr1565Leu,benign
Q13402:p.Thr1565Met,benign
Q13402:p.Thr1566Ala,benign
Q13402:p.Thr1566Met,benign
Q13402:p.Thr1566Val,benign
Q13402:p.Ala1567Val,benign
Q13402:p.Pro1568Ser,benign
Q13402:p.Thr1574Ala,benign
Q13402:p.Ile1575Leu,benign
Q13402:p.Ile1575Met,benign
Q13402:p.Asp1578Glu,benign
Q13402:p.Ser1585Asn,benign
Q13402:p.Ser1585Thr,benign
Q13402:p.Ala1587Ser,benign
Q13402:p.Arg1602Gln,pathogenic
Q13402:p.Lys1603Arg,benign
Q13402:p.Pro1615Ser,benign
Q13402:p.Asn1616Ser,benign
Q13402:p.Ala1618Val,benign
Q13402:p.Glu1621Asp,benign
Q13402:p.Ser1626Gly,benign
Q13402:p.Ala1628Ser,pathogenic
Q13402:p.Ala1628Val,benign
Q13402:p.Ile1633Leu,benign
Q13402:p.Ile1633Val,benign
Q13402:p.Ile1634Val,benign
Q13402:p.His1637Arg,benign
Q13402:p.Gln1642His,benign
Q13402:p.Asn1645Ser,benign
Q13402:p.Ser1646Ala,benign
Q13402:p.Asn1650Gly,benign
Q13402:p.Asn1650Ser,benign
Q13402:p.Asn1653Ser,benign
Q13402:p.Thr1656Asn,benign
Q13402:p.Lys1657Arg,benign
Q13402:p.Gln1658His,benign
Q13402:p.Arg1659His,benign
Q13402:p.Thr1664Met,benign
Q13402:p.Ser1666Cys,benign
Q13402:p.Thr1674Ala,benign
Q13402:p.Met1675Leu,benign
Q13402:p.Pro1677Leu,benign
Q13402:p.Arg1678Gln,benign
Q13402:p.Glu1679Asp,benign
Q13402:p.Val1681Ala,benign
Q13402:p.Val1684Ile,benign
Q13402:p.Met1686Leu,benign
Q13402:p.Asp1689Ala,benign
Q13402:p.Gln1690Pro,benign
Q13402:p.Val1694Met,benign
Q13402:p.Val1695Ala,benign
Q13402:p.Val1695Ile,benign
Q13402:p.Val1695Leu,benign
Q13402:p.Leu1697Phe,benign
Q13402:p.Leu1698Met,benign
Q13402:p.Leu1700Ile,benign
Q13402:p.Leu1700Met,benign
Q13402:p.Leu1700Gln,benign
Q13402:p.Arg1701His,benign
Q13402:p.Arg1701Gln,benign
Q13402:p.Arg1701Ser,benign
Q13402:p.Thr1702Ala,benign
Q13402:p.Thr1702Ser,benign
Q13402:p.Ala1703Pro,benign
Q13402:p.Ala1703Thr,benign
Q13402:p.Ala1703Val,benign
Q13402:p.Val1707Ala,benign
Q13402:p.Val1707Pro,benign
Q13402:p.Arg1708Cys,benign
Q13402:p.Ala1709Ser,benign
Q13402:p.Ala1709Thr,benign
Q13402:p.Glu1715Gln,benign
Q13402:p.Phe1717Gly,benign
Q13402:p.Tyr1719Leu,benign
Q13402:p.Asp1720Gly,benign
Q13402:p.Tyr1721Cys,benign
Q13402:p.Tyr1721Arg,benign
Q13402:p.Phe1722Val,benign
Q13402:p.Arg1723Pro,benign
Q13402:p.Arg1723Ser,benign
Q13402:p.Pro1724His,benign
Q13402:p.Pro1724Arg,benign
Q13402:p.Pro1724Ser,benign
Q13402:p.Pro1725Ala,benign
Q13402:p.Pro1725Gln,benign
Q13402:p.Pro1726Ala,benign
Q13402:p.Pro1726Gly,benign
Q13402:p.Pro1726Gln,benign
Q13402:p.Lys1727Ala,benign
Q13402:p.Lys1727Gln,benign
Q13402:p.Lys1727Arg,benign
Q13402:p.His1728Ala,benign
Q13402:p.His1728Pro,benign
Q13402:p.His1728Trp,benign
Q13402:p.Thr1729Ala,benign
Q13402:p.Thr1729Gly,benign
Q13402:p.Thr1729Leu,benign
Q13402:p.Leu1730Gly,benign
Q13402:p.Leu1730Lys,benign
Q13402:p.Leu1730Val,benign
Q13402:p.Ser1731Ala,benign
Q13402:p.Ser1731Gly,benign
Q13402:p.Ser1731Asn,benign
Q13402:p.Ser1731Gln,benign
Q13402:p.Arg1732Gly,benign
Q13402:p.Arg1732Lys,benign
Q13402:p.Val1733Ala,benign
Q13402:p.Val1733Asp,benign
Q13402:p.Met1734Ala,benign
Q13402:p.Met1734Glu,benign
Q13402:p.Val1735Lys,benign
Q13402:p.Val1735Trp,benign
Q13402:p.Ser1736Ala,benign
Q13402:p.Ser1736Gly,benign
Q13402:p.Ser1736Arg,benign
Q13402:p.Lys1737Glu,benign
Q13402:p.Lys1737Arg,benign
Q13402:p.Lys1737Ser,benign
Q13402:p.Ala1738His,benign
Q13402:p.Ala1738Thr,benign
Q13402:p.Ala1738Val,benign
Q13402:p.Arg1739Asp,benign
Q13402:p.Gly1740Ala,benign
Q13402:p.Lys1741Ala,benign
Q13402:p.Lys1741Arg,benign
Q13402:p.Asp1742Ala,benign
Q13402:p.Arg1743His,benign
Q13402:p.Arg1743Trp,pathogenic
Q13402:p.Trp1745Gly,benign
Q13402:p.Ser1746Ala,benign
Q13402:p.Ser1746Gly,benign
Q13402:p.Ser1746Asn,benign
Q13402:p.His1747Ser,benign
Q13402:p.Thr1748Cys,benign
Q13402:p.Thr1748Phe,benign
Q13402:p.Arg1749Gln,benign
Q13402:p.Arg1749Val,benign
Q13402:p.Glu1750Ala,benign
Q13402:p.Glu1750Leu,benign
Q13402:p.Glu1750Ser,benign
Q13402:p.Leu1752Met,benign
Q13402:p.Lys1753Glu,benign
Q13402:p.Lys1753Pro,benign
Q13402:p.Gln1754Ser,benign
Q13402:p.Ala1755Gly,benign
Q13402:p.Leu1756Ala,benign
Q13402:p.Leu1756Cys,benign
Q13402:p.Leu1757Ser,benign
Q13402:p.Leu1757Val,benign
Q13402:p.Lys1758Leu,benign
Q13402:p.Lys1758Arg,benign
Q13402:p.Lys1759Gly,benign
Q13402:p.Lys1759Pro,benign
Q13402:p.Leu1760Ile,benign
Q13402:p.Leu1760Gln,benign
Q13402:p.Leu1760Thr,benign
Q13402:p.Leu1760Val,benign
Q13402:p.Leu1761Ala,benign
Q13402:p.Leu1761Val,benign
Q13402:p.Gly1762Leu,benign
Q13402:p.Gly1762Ser,benign
Q13402:p.Ser1763Ala,benign
Q13402:p.Ser1763Asn,benign
Q13402:p.Glu1764Pro,benign
Q13402:p.Glu1764Gln,benign
Q13402:p.Glu1765Ala,benign
Q13402:p.Glu1765Leu,benign
Q13402:p.Glu1765Ser,benign
Q13402:p.Leu1766Gln,benign
Q13402:p.Leu1766Thr,benign
Q13402:p.Ser1767Arg,benign
Q13402:p.Ser1767Val,benign
Q13402:p.Gln1768Met,benign
Q13402:p.Gln1768Pro,benign
Q13402:p.Glu1769Gln,benign
Q13402:p.Glu1769Ser,benign
Q13402:p.Ala1770Pro,benign
Q13402:p.Cys1771Leu,benign
Q13402:p.Cys1771Ser,benign
Q13402:p.Leu1772Met,benign
Q13402:p.Leu1772Thr,benign
Q13402:p.Leu1772Trp,benign
Q13402:p.Ala1773Gly,benign
Q13402:p.Ala1773Ser,benign
Q13402:p.Ala1773Thr,benign
Q13402:p.Phe1774Pro,benign
Q13402:p.Phe1774Ser,benign
Q13402:p.Ile1775Pro,benign
Q13402:p.Ile1775Thr,benign
Q13402:p.Ile1775Val,benign
Q13402:p.Ala1776Asp,benign
Q13402:p.Ala1776Gly,benign
Q13402:p.Ala1776Pro,benign
Q13402:p.Ala1776Thr,benign
Q13402:p.Val1777Ile,benign
Q13402:p.Val1777Met,benign
Q13402:p.Lys1779Gly,benign
Q13402:p.Lys1779His,benign
Q13402:p.Tyr1780Thr,benign
Q13402:p.Met1781Leu,benign
Q13402:p.Tyr1784Gly,benign
Q13402:p.Ser1786His,benign
Q13402:p.Lys1787Gly,benign
Q13402:p.Lys1787Arg,benign
Q13402:p.Arg1788Gly,benign
Q13402:p.Thr1789Ala,benign
Q13402:p.Thr1789Met,benign
Q13402:p.Thr1789Val,benign
Q13402:p.Val1792Ile,benign
Q13402:p.Asn1793Ser,benign
Q13402:p.Gly1802Trp,benign
Q13402:p.Pro1803Ala,benign
Q13402:p.Pro1803Ser,benign
Q13402:p.Leu1804Val,benign
Q13402:p.Lys1805Arg,benign
Q13402:p.Pro1808Ala,benign
Q13402:p.Ala1813Val,benign
Q13402:p.Gln1816His,benign
Q13402:p.Ile1817Val,benign
Q13402:p.Leu1818Val,benign
Q13402:p.His1825Asn,benign
Q13402:p.Tyr1828Ser,benign
Q13402:p.Ser1829Arg,benign
Q13402:p.Glu1830Thr,benign
Q13402:p.Glu1831Asp,benign
Q13402:p.Arg1832Lys,benign
Q13402:p.Glu1835Gln,benign
Q13402:p.Leu1836Lys,benign
Q13402:p.Cys1840Asn,benign
Q13402:p.Leu1843Trp,benign
Q13402:p.Phe1844Glu,benign
Q13402:p.Phe1844Tyr,benign
Q13402:p.Pro1846Gly,benign
Q13402:p.Asn1848Ser,benign
Q13402:p.Asn1848Thr,benign
Q13402:p.Asn1848Val,benign
Q13402:p.Ile1849Ser,benign
Q13402:p.Ile1849Val,benign
Q13402:p.Leu1850Gln,benign
Q13402:p.Leu1851Val,benign
Q13402:p.Val1854Leu,benign
Q13402:p.Gln1855Ser,benign
Q13402:p.Arg1856Val,benign
Q13402:p.Phe1857Leu,benign
Q13402:p.Leu1858His,benign
Q13402:p.Leu1858Pro,pathogenic
Q13402:p.Leu1858Val,benign
Q13402:p.Gln1859Ser,benign
Q13402:p.Ser1860Pro,benign
Q13402:p.Arg1861Trp,benign
Q13402:p.Lys1862Pro,benign
Q13402:p.Lys1862Arg,benign
Q13402:p.His1863Pro,benign
Q13402:p.His1863Gln,benign
Q13402:p.Cys1864Glu,benign
Q13402:p.Cys1864Gly,benign
Q13402:p.Cys1864Asn,benign
Q13402:p.Cys1864Tyr,benign
Q13402:p.Pro1865Ala,benign
Q13402:p.Pro1865Leu,benign
Q13402:p.Pro1865Val,benign
Q13402:p.Ala1867Ser,benign
Q13402:p.Ile1868Leu,benign
Q13402:p.Ile1868Pro,benign
Q13402:p.Ile1868Thr,benign
Q13402:p.Ile1868Val,benign
Q13402:p.Leu1871Phe,benign
Q13402:p.Leu1871Val,benign
Q13402:p.Gln1872Ala,benign
Q13402:p.Arg1873Thr,benign
Q13402:p.Arg1873Trp,pathogenic
Q13402:p.Leu1874Pro,benign
Q13402:p.Gln1875His,benign
Q13402:p.Lys1876Val,benign
Q13402:p.Ala1877Phe,benign
Q13402:p.Leu1878Phe,benign
Q13402:p.Arg1883Gln,pathogenic
Q13402:p.Pro1887Leu,pathogenic
Q13402:p.Asp1910Glu,benign
Q13402:p.Asp1911Ile,benign
Q13402:p.Thr1912Ser,benign
Q13402:p.Glu1914Ser,benign
Q13402:p.Ala1915His,benign
Q13402:p.Ala1915Ser,benign
Q13402:p.Phe1916Leu,benign
Q13402:p.Phe1916Val,benign
Q13402:p.Glu1917Gln,benign
Q13402:p.Val1918Ala,benign
Q13402:p.Val1918Glu,benign
Q13402:p.Glu1919Ser,benign
Q13402:p.Ser1920Ala,benign
Q13402:p.Ser1920Gln,benign
Q13402:p.Ser1921Asp,benign
Q13402:p.Ser1921Thr,benign
Q13402:p.Thr1922Ser,benign
Q13402:p.Thr1922Val,benign
Q13402:p.Lys1923Asp,benign
Q13402:p.Lys1923Pro,benign
Q13402:p.Lys1923Arg,benign
Q13402:p.Ala1924Cys,benign
Q13402:p.Lys1925Ala,benign
Q13402:p.Lys1925Pro,benign
Q13402:p.Lys1925Thr,benign
Q13402:p.Asp1926Glu,benign
Q13402:p.Asp1926Phe,benign
Q13402:p.Asp1926Gly,benign
Q13402:p.Phe1927Ser,benign
Q13402:p.Gln1929Ala,benign
Q13402:p.Gln1929Leu,benign
Q13402:p.Gln1929Arg,benign
Q13402:p.Asn1930Gly,benign
Q13402:p.Asn1930Arg,benign
Q13402:p.Asn1930Ser,benign
Q13402:p.Asn1930Val,benign
Q13402:p.Ile1931His,benign
Q13402:p.Ile1931Gln,benign
Q13402:p.Ala1932Phe,benign
Q13402:p.Ala1932Gly,benign
Q13402:p.Ala1932Ser,benign
Q13402:p.Thr1933Ala,benign
Q13402:p.Thr1933Gly,benign
Q13402:p.Thr1933Leu,benign
Q13402:p.Thr1933Arg,benign
Q13402:p.Thr1933Ser,benign
Q13402:p.Thr1933Val,benign
Q13402:p.Arg1934Gly,benign
Q13402:p.Arg1934Ser,benign
Q13402:p.Leu1935Val,benign
Q13402:p.Leu1936Pro,benign
Q13402:p.Leu1936Val,benign
Q13402:p.Leu1937Val,benign
Q13402:p.Lys1938Pro,benign
Q13402:p.Lys1938Ser,benign
Q13402:p.Ser1939Asp,benign
Q13402:p.Ser1939Leu,benign
Q13402:p.Ser1939Thr,benign
Q13402:p.Ser1940Ala,benign
Q13402:p.Ser1940Phe,benign
Q13402:p.Glu1941Asp,benign
Q13402:p.Glu1941Gly,benign
Q13402:p.Glu1941Pro,benign
Q13402:p.Gly1942Thr,benign
Q13402:p.Phe1943Ala,benign
Q13402:p.Phe1943Arg,benign
Q13402:p.Ser1944Gly,benign
Q13402:p.Ser1944Gln,benign
Q13402:p.Leu1945Asp,benign
Q13402:p.Leu1945Ser,benign
Q13402:p.Phe1946Leu,benign
Q13402:p.Phe1946Ser,benign
Q13402:p.Val1947Ser,benign
Q13402:p.Lys1948Glu,benign
Q13402:p.Lys1948Gln,benign
Q13402:p.Lys1948Arg,benign
Q13402:p.Ile1949Gln,benign
Q13402:p.Ile1949Val,benign
Q13402:p.Ala1950Ile,benign
Q13402:p.Ala1950Leu,benign
Q13402:p.Ala1950Val,benign
Q13402:p.Asp1951Phe,benign
Q13402:p.Lys1952Ala,benign
Q13402:p.Lys1952Pro,benign
Q13402:p.Leu1954Ile,benign
Q13402:p.Val1956Ile,benign
Q13402:p.Glu1958Asp,benign
Q13402:p.Ile1979Val,benign
Q13402:p.Lys1980Arg,benign
Q13402:p.Ile1983Leu,benign
Q13402:p.Ile1983Val,benign
Q13402:p.Val1984Leu,benign
Q13402:p.Val1984Met,benign
Q13402:p.Ser1986Leu,benign
Q13402:p.Thr2000Ser,benign
Q13402:p.Thr2030Ser,benign
Q13402:p.Val2044Ala,benign
Q13402:p.Leu2059Met,benign
Q13402:p.Val2072Ile,benign
Q13402:p.Ser2073Ala,benign
Q13402:p.Val2082Ile,benign
Q13402:p.Ala2089Thr,benign
Q13402:p.Glu2095Asp,benign
Q13402:p.Ala2099Thr,benign
Q13402:p.Lys2102Arg,benign
Q13402:p.Leu2103Val,benign
Q13402:p.Gln2119Val,benign
Q13402:p.Thr2120His,benign
Q13402:p.Thr2121His,benign
Q13402:p.Glu2122Gly,benign
Q13402:p.Asn2124His,benign
Q13402:p.Asn2124Ser,benign
Q13402:p.Ile2128Val,benign
Q13402:p.Ile2131Leu,benign
Q13402:p.Ala2132Arg,benign
Q13402:p.Ile2133Ala,benign
Q13402:p.Asn2134Glu,benign
Q13402:p.Lys2135Glu,benign
Q13402:p.Tyr2136Glu,benign
Q13402:p.Tyr2136His,benign
Q13402:p.Gly2137Glu,pathogenic
Q13402:p.Val2138Ile,benign
Q13402:p.Val2138Asn,benign
Q13402:p.Ser2139Arg,benign
Q13402:p.Leu2140Ala,benign
Q13402:p.Ile2141Leu,benign
Q13402:p.Asp2142Ile,benign
Q13402:p.Pro2143Lys,benign
Q13402:p.Lys2144His,benign
Q13402:p.Lys2144Arg,benign
Q13402:p.Thr2145Arg,benign
Q13402:p.Thr2145Ser,benign
Q13402:p.Lys2146Ala,benign
Q13402:p.Asp2147Met,benign
Q13402:p.Ile2148Ala,benign
Q13402:p.Thr2150Asp,benign
Q13402:p.His2152Cys,benign
Q13402:p.Phe2154Gly,benign
Q13402:p.Thr2155Glu,benign
Q13402:p.Lys2156Gly,benign
Q13402:p.Ile2157Ala,benign
Q13402:p.Ile2157Arg,benign
Q13402:p.Ser2158Leu,benign
Q13402:p.Ser2158Arg,benign
Q13402:p.Asn2159Ala,benign
Q13402:p.Asn2159Pro,benign
Q13402:p.Trp2160Ala,benign
Q13402:p.Ser2161Ala,benign
Q13402:p.Ser2161Pro,benign
Q13402:p.Gly2163Ala,benign
Q13402:p.Gly2163Ser,pathogenic
Q13402:p.Asn2164Leu,benign
Q13402:p.Thr2165Pro,benign
Q13402:p.Thr2165Ser,benign
Q13402:p.Tyr2166Gln,benign
Q13402:p.Tyr2166Ser,benign
Q13402:p.Phe2167Leu,benign
Q13402:p.Phe2167Arg,benign
Q13402:p.His2168Ser,benign
Q13402:p.Ile2169Thr,benign
Q13402:p.Ile2169Val,benign
Q13402:p.Thr2170Leu,benign
Q13402:p.Thr2170Val,benign
Q13402:p.Ile2171Ala,benign
Q13402:p.Ile2171Phe,benign
Q13402:p.Gly2172Pro,benign
Q13402:p.Asn2173Lys,benign
Q13402:p.Leu2174Ser,benign
Q13402:p.Leu2174Val,benign
Q13402:p.Val2175Ser,benign
Q13402:p.Arg2176Pro,benign
Q13402:p.Ser2178Asp,benign
Q13402:p.Lys2179Arg,benign
Q13402:p.Lys2179Ser,benign
Q13402:p.Leu2180Cys,benign
Q13402:p.Leu2180Gly,benign
Q13402:p.Leu2181Thr,benign
Q13402:p.Cys2182Pro,benign
Q13402:p.Cys2182Arg,benign
Q13402:p.Glu2183Pro,benign
Q13402:p.Glu2183Ser,benign
Q13402:p.Thr2184Pro,benign
Q13402:p.Thr2184Ser,benign
Q13402:p.Ser2185Ala,benign
Q13402:p.Ser2185Thr,benign
Q13402:p.Leu2186Trp,benign
Q13402:p.Gly2187Asp,pathogenic
Q13402:p.Gly2187Gln,benign
Q13402:p.Tyr2188Trp,benign
Q13402:p.Lys2189Arg,benign
Q13402:p.Met2190Leu,benign
Q13402:p.Asp2191Glu,benign
Q13402:p.Asp2192His,benign
Q13402:p.Leu2193Gly,benign
Q13402:p.Leu2194Ile,benign
Q13402:p.Thr2195Cys,benign
Q13402:p.Thr2195His,benign
Q13402:p.Tyr2197Asp,benign
Q13402:p.Tyr2197Phe,benign
Q13402:p.Ile2198Ser,benign
Q13402:p.Ile2198Thr,benign
Q13402:p.Ser2199Gly,benign
Q13402:p.Gln2200Glu,benign
Q13402:p.Gln2200Phe,benign
Q13402:p.Met2201Pro,benign
Q13402:p.Met2201Arg,benign
Q13402:p.Leu2202Ser,benign
Q13402:p.Thr2203Pro,benign
Q13402:p.Thr2203Ser,benign
Q13402:p.Ala2204Asp,benign
Q13402:p.Ala2204Arg,benign
Q13402:p.Ala2204Thr,benign
Q13402:p.Met2205Phe,benign
Q13402:p.Met2205Trp,benign
Q13402:p.Ser2206Asn,benign
Q13402:p.Ser2206Gln,benign
Q13402:p.Lys2207Phe,benign
Q13402:p.Lys2207Arg,benign
Q13402:p.Lys2207Ser,benign
Q13402:p.Gln2208Arg,benign
Q13402:p.Gln2208Ser,benign
Q13402:p.Arg2209Ala,benign
Q13402:p.Arg2209Gly,benign
Q13402:p.Gly2210Ala,benign
Q13402:p.Gly2210Asn,benign
Q13402:p.Gly2210Ser,benign
Q13402:p.Ser2211Pro,benign
Q13402:p.Arg2212Ala,benign
Q13402:p.Arg2212Tyr,benign
Q13402:p.Ser2213Ala,benign
Q13402:p.Ser2213Gly,benign
Q13402:p.Ser2213Thr,benign
Q13402:p.Gly2214Ala,benign
Q13402:p.Gly2214Cys,benign
Q13402:p.Gly2214Asn,benign
Q13402:p.Gly2214Ser,benign
Q13402:p.Lys2215Glu,benign
Q13402:p.Lys2215Gln,benign
Q13402:p.Lys2215Arg,benign
P35670:p.Met1Leu,benign
P35670:p.Pro2Ala,benign
P35670:p.Glu3Ser,benign
P35670:p.Gln4Val,benign
P35670:p.Glu5Gly,benign
P35670:p.Glu5Lys,benign
P35670:p.Glu5Arg,benign
P35670:p.Arg6Glu,benign
P35670:p.Gln7Glu,benign
P35670:p.Gln7Lys,benign
P35670:p.Ile8Cys,benign
P35670:p.Ile8Met,benign
P35670:p.Thr9Gln,benign
P35670:p.Thr9Ser,benign
P35670:p.Ala10Ser,benign
P35670:p.Arg11Asn,benign
P35670:p.Arg11Ser,benign
P35670:p.Arg27His,benign
P35670:p.Asn41Ser,pathogenic
P35670:p.Ser54Phe,benign
P35670:p.Ala58Asp,benign
P35670:p.Val62Ile,benign
P35670:p.Thr68Ala,benign
P35670:p.Asn82Ser,benign
P35670:p.Gly85Val,pathogenic
P35670:p.Ile87Val,benign
P35670:p.Ser92Phe,benign
P35670:p.Val100Met,benign
P35670:p.Cys108Ser,benign
P35670:p.Ser159Gly,benign
P35670:p.Gly163Ser,benign
P35670:p.Arg166Gly,benign
P35670:p.Asp203Gly,benign
P35670:p.Ala209Val,benign
P35670:p.Ser212Asn,benign
P35670:p.Gln228Glu,benign
P35670:p.Ser254Arg,benign
P35670:p.His255Asn,benign
P35670:p.Val272Ile,benign
P35670:p.Lys300Gln,benign
P35670:p.Cys305Arg,benign
P35670:p.Arg313Met,benign
P35670:p.Arg313Thr,benign
P35670:p.Ser326Tyr,benign
P35670:p.Gly330Ala,benign
P35670:p.Thr336Ile,benign
P35670:p.Ser342Asn,benign
P35670:p.His344Arg,benign
P35670:p.Ser345Gly,benign
P35670:p.Pro346Ser,benign
P35670:p.Pro349Ser,benign
P35670:p.Gly356Ser,benign
P35670:p.Ser376Thr,benign
P35670:p.Met380Val,benign
P35670:p.Ser391Leu,benign
P35670:p.Glu396Lys,benign
P35670:p.Thr398Ile,benign
P35670:p.Ala399Gly,benign
P35670:p.Ser406Ala,benign
P35670:p.Ser430Asn,benign
P35670:p.Asn434Ser,benign
P35670:p.Asn438Asp,benign
P35670:p.Asn438Lys,benign
P35670:p.Asn438Ser,benign
P35670:p.Ser440Asn,benign
P35670:p.Met445Val,benign
P35670:p.Asp450Gly,benign
P35670:p.Val456Leu,benign
P35670:p.Pro461Leu,benign
P35670:p.Thr463Ala,benign
P35670:p.Arg465Ser,benign
P35670:p.Leu466Phe,benign
P35670:p.Pro467Ser,benign
P35670:p.Ala468Thr,benign
P35670:p.Ala471Leu,benign
P35670:p.Ala471Val,benign
P35670:p.Leu475Trp,benign
P35670:p.Ala486Ser,pathogenic
P35670:p.Leu492Ser,pathogenic
P35670:p.Val519Ala,benign
P35670:p.Ile530Val,benign
P35670:p.Lys531Met,benign
P35670:p.Tyr532His,pathogenic
P35670:p.Val536Ala,pathogenic
P35670:p.Ile542Val,benign
P35670:p.Gln544Pro,benign
P35670:p.Phe545Leu,benign
P35670:p.Leu549Pro,pathogenic
P35670:p.Tyr559Ser,benign
P35670:p.Ala560Thr,benign
P35670:p.Gly591Asp,pathogenic
P35670:p.Ala604Pro,pathogenic
P35670:p.Arg616Gln,pathogenic
P35670:p.Arg616Trp,pathogenic
P35670:p.Gly626Ala,pathogenic
P35670:p.Asn635Ile,benign
P35670:p.Asn635Lys,benign
P35670:p.Ala638Gly,benign
P35670:p.His639Arg,benign
P35670:p.His639Tyr,pathogenic
P35670:p.Leu641Ser,pathogenic
P35670:p.Asp642His,pathogenic
P35670:p.Met645Arg,pathogenic
P35670:p.Ser653Tyr,pathogenic
P35670:p.Ser657Arg,pathogenic
P35670:p.Met665Ile,pathogenic
P35670:p.Glu677Lys,benign
P35670:p.Glu677Gln,benign
P35670:p.His679Gln,benign
P35670:p.Met682Val,benign
P35670:p.His686Arg,benign
P35670:p.Pro690Leu,pathogenic
P35670:p.Gly691Arg,pathogenic
P35670:p.Ser693Cys,pathogenic
P35670:p.Cys703Tyr,pathogenic
P35670:p.Leu708Pro,pathogenic
P35670:p.Leu708Val,benign
P35670:p.Gly710Ala,pathogenic
P35670:p.Gly710Arg,pathogenic
P35670:p.Gly710Ser,pathogenic
P35670:p.Gly710Val,pathogenic
P35670:p.Gly711Glu,pathogenic
P35670:p.Gly711Arg,pathogenic
P35670:p.Gly711Trp,pathogenic
P35670:p.Tyr713Cys,pathogenic
P35670:p.Ser721Pro,pathogenic
P35670:p.Arg725Gly,benign
P35670:p.Thr737Arg,pathogenic
P35670:p.Tyr741Cys,pathogenic
P35670:p.Ser744Pro,pathogenic
P35670:p.Ile747Phe,pathogenic
P35670:p.Lys755Gln,benign
P35670:p.Ala756Gly,pathogenic
P35670:p.Pro760Leu,pathogenic
P35670:p.Asp765Gly,pathogenic
P35670:p.Asp765Asn,pathogenic
P35670:p.Thr766Met,pathogenic
P35670:p.Thr766Arg,pathogenic
P35670:p.Pro768His,pathogenic
P35670:p.Met769Ile,pathogenic
P35670:p.Met769Arg,pathogenic
P35670:p.Met769Val,pathogenic
P35670:p.Leu776Pro,pathogenic
P35670:p.Arg778Gly,pathogenic
P35670:p.Arg778Leu,pathogenic
P35670:p.Arg778Gln,pathogenic
P35670:p.Arg778Trp,pathogenic
P35670:p.Lys785Gln,benign
P35670:p.Leu795Phe,pathogenic
P35670:p.Leu795Arg,pathogenic
P35670:p.Asn812Ser,benign
P35670:p.Lys832Arg,benign
P35670:p.Pro840Leu,pathogenic
P35670:p.Ile857Thr,pathogenic
P35670:p.Ala861Thr,pathogenic
P35670:p.Gly869Arg,pathogenic
P35670:p.Gly869Val,pathogenic
P35670:p.Ala874Val,pathogenic
P35670:p.Gly875Val,pathogenic
P35670:p.Val890Met,pathogenic
P35670:p.Gly891Val,pathogenic
P35670:p.Gln898Arg,pathogenic
P35670:p.Asp918Glu,pathogenic
P35670:p.Asp918Asn,pathogenic
P35670:p.Arg919Gly,pathogenic
P35670:p.Arg919Trp,pathogenic
P35670:p.Phe920Leu,benign
P35670:p.Ser921Asn,pathogenic
P35670:p.Phe927Leu,benign
P35670:p.Thr933Pro,pathogenic
P35670:p.Leu934Asp,benign
P35670:p.Thr935Met,pathogenic
P35670:p.Leu936Gly,benign
P35670:p.Val937Glu,benign
P35670:p.Ile940Met,benign
P35670:p.Gly943Cys,pathogenic
P35670:p.Gly943Asp,pathogenic
P35670:p.Gly943Ser,pathogenic
P35670:p.Phe944Ile,benign
P35670:p.Ile945Val,benign
P35670:p.Phe947Leu,benign
P35670:p.Gly948Ala,benign
P35670:p.Val949Gly,pathogenic
P35670:p.Val949Gln,benign
P35670:p.Arg952Lys,benign
P35670:p.Ile967Phe,pathogenic
P35670:p.Arg969Gln,pathogenic
P35670:p.Ala971Val,pathogenic
P35670:p.Thr974Met,pathogenic
P35670:p.Ser975Tyr,pathogenic
P35670:p.Thr977Met,pathogenic
P35670:p.Cys985Tyr,pathogenic
P35670:p.Gly988Arg,pathogenic
P35670:p.Thr991Met,pathogenic
P35670:p.Pro992His,pathogenic
P35670:p.Pro992Leu,pathogenic
P35670:p.Met996Thr,pathogenic
P35670:p.Gly998Asp,pathogenic
P35670:p.Gly1000Arg,pathogenic
P35670:p.Ala1003Thr,pathogenic
P35670:p.Ala1003Val,pathogenic
P35670:p.Gln1004Pro,pathogenic
P35670:p.Ala1018Val,pathogenic
P35670:p.Thr1029Ile,pathogenic
P35670:p.Thr1031Ile,pathogenic
P35670:p.Thr1033Ala,pathogenic
P35670:p.Thr1033Ser,pathogenic
P35670:p.Gly1035Val,pathogenic
P35670:p.Arg1038Lys,pathogenic
P35670:p.Arg1041Pro,pathogenic
P35670:p.Leu1043Pro,pathogenic
P35670:p.Pro1052Leu,pathogenic
P35670:p.Val1056Phe,benign
P35670:p.Gly1061Glu,pathogenic
P35670:p.Ala1063Val,pathogenic
P35670:p.Glu1064Ala,pathogenic
P35670:p.Glu1064Lys,pathogenic
P35670:p.Ala1065Pro,pathogenic
P35670:p.Glu1068Gly,pathogenic
P35670:p.His1069Gln,pathogenic
P35670:p.Leu1083Phe,pathogenic
P35670:p.Gly1089Glu,pathogenic
P35670:p.Gly1089Val,pathogenic
P35670:p.Phe1094Leu,pathogenic
P35670:p.Gln1095Pro,pathogenic
P35670:p.Pro1098Arg,pathogenic
P35670:p.Gly1099Ser,pathogenic
P35670:p.Gly1101Arg,pathogenic
P35670:p.Ile1102Thr,pathogenic
P35670:p.Cys1104Phe,pathogenic
P35670:p.Cys1104Tyr,pathogenic
P35670:p.Val1106Asp,pathogenic
P35670:p.Val1106Ile,pathogenic
P35670:p.Gly1111Asp,pathogenic
P35670:p.Glu1117Ala,benign
P35670:p.Arg1118His,benign
P35670:p.Ser1121Arg,benign
P35670:p.Pro1123Leu,benign
P35670:p.Ser1132Asn,benign
P35670:p.Ala1135Thr,benign
P35670:p.Val1140Ala,benign
P35670:p.Gln1142His,pathogenic
P35670:p.Val1146Met,pathogenic
P35670:p.Ile1148Thr,pathogenic
P35670:p.Gly1149Ala,pathogenic
P35670:p.Arg1151His,pathogenic
P35670:p.Glu1152Lys,benign
P35670:p.Trp1153Cys,pathogenic
P35670:p.Trp1153Arg,pathogenic
P35670:p.Asp1164Asn,pathogenic
P35670:p.Ala1168Ser,pathogenic
P35670:p.Met1169Thr,pathogenic
P35670:p.Met1169Val,pathogenic
P35670:p.Glu1173Gly,pathogenic
P35670:p.Glu1173Lys,pathogenic
P35670:p.Gly1176Glu,pathogenic
P35670:p.Gly1176Arg,pathogenic
P35670:p.Ala1183Gly,pathogenic
P35670:p.Ala1183Thr,pathogenic
P35670:p.Gly1186Cys,pathogenic
P35670:p.Gly1186Ser,pathogenic
P35670:p.Gly1213Val,pathogenic
P35670:p.Val1216Met,pathogenic
P35670:p.Thr1220Met,pathogenic
P35670:p.Gly1221Glu,pathogenic
P35670:p.Asp1222Asn,pathogenic
P35670:p.Asp1222Val,pathogenic
P35670:p.Asp1222Tyr,pathogenic
P35670:p.Arg1228Thr,pathogenic
P35670:p.Ile1230Val,pathogenic
P35670:p.Thr1232Pro,pathogenic
P35670:p.Val1239Gly,pathogenic
P35670:p.Lys1248Asn,pathogenic
P35670:p.Val1252Ile,pathogenic
P35670:p.Leu1255Ile,pathogenic
P35670:p.Gln1256Arg,pathogenic
P35670:p.Lys1258Glu,benign
P35670:p.Lys1261Arg,benign
P35670:p.Val1262Phe,pathogenic
P35670:p.Ala1263Thr,benign
P35670:p.Gly1266Arg,pathogenic
P35670:p.Gly1266Val,pathogenic
P35670:p.Asp1267Ala,pathogenic
P35670:p.Asp1267Val,pathogenic
P35670:p.Val1269Ile,benign
P35670:p.Asn1270Ser,pathogenic
P35670:p.Asp1271Asn,pathogenic
P35670:p.Pro1273Leu,pathogenic
P35670:p.Asp1279Gly,pathogenic
P35670:p.Asp1279Tyr,pathogenic
P35670:p.Gly1287Ser,pathogenic
P35670:p.Asp1296Asn,pathogenic
P35670:p.Leu1305Pro,pathogenic
P35670:p.Ser1310Arg,pathogenic
P35670:p.Thr1317Ile,benign
P35670:p.Arg1322His,benign
P35670:p.Arg1322Pro,pathogenic
P35670:p.Leu1327Val,pathogenic
P35670:p.Ala1328Thr,pathogenic
P35670:p.Tyr1331Ser,pathogenic
P35670:p.Asn1332Asp,pathogenic
P35670:p.Ile1336Thr,pathogenic
P35670:p.Gly1341Asp,pathogenic
P35670:p.Gly1341Arg,pathogenic
P35670:p.Gly1341Ser,pathogenic
P35670:p.Gly1341Val,pathogenic
P35670:p.Pro1352Ser,pathogenic
P35670:p.Trp1353Arg,pathogenic
P35670:p.Gly1355Cys,pathogenic
P35670:p.Gly1355Ser,pathogenic
P35670:p.Ala1358Ser,pathogenic
P35670:p.Met1359Ile,pathogenic
P35670:p.Ser1363Phe,pathogenic
P35670:p.Leu1368Pro,pathogenic
P35670:p.Leu1373Pro,pathogenic
P35670:p.Leu1373Arg,pathogenic
P35670:p.Cys1375Ser,pathogenic
P35670:p.Pro1379Ser,pathogenic
P35670:p.Trp1410Arg,benign
P35670:p.Thr1434Met,pathogenic
P35670:p.Ala1443Thr,benign
P35670:p.Asp1448Gly,benign
P35670:p.Gly1458Asp,benign
P35670:p.Arg1459Lys,benign
P35475:p.Pro6Leu,benign
P35475:p.Ala9Thr,benign
P35475:p.Leu13Val,benign
P35475:p.Leu18Pro,pathogenic
P35475:p.Ala24Val,benign
P35475:p.His33Gln,benign
P35475:p.Gly51Asp,pathogenic
P35475:p.Ala75Thr,pathogenic
P35475:p.Tyr76Cys,pathogenic
P35475:p.Ala79Val,pathogenic
P35475:p.His82Pro,pathogenic
P35475:p.Gly84Arg,pathogenic
P35475:p.Lys86Glu,benign
P35475:p.Arg89Gln,pathogenic
P35475:p.Arg89Trp,pathogenic
P35475:p.Gly101Arg,benign
P35475:p.Thr103Pro,pathogenic
P35475:p.Arg105Trp,benign
P35475:p.Leu107Pro,benign
P35475:p.Gly116Glu,benign
P35475:p.Phe130Glu,benign
P35475:p.Glu131Leu,benign
P35475:p.Met133Ile,pathogenic
P35475:p.Met133Trp,benign
P35475:p.Ser158Ala,benign
P35475:p.Ala160Val,benign
P35475:p.Arg162Lys,benign
P35475:p.Gly165Arg,benign
P35475:p.Ala170Val,benign
P35475:p.Glu178Lys,pathogenic
P35475:p.Glu178Gln,benign
P35475:p.Glu182Lys,pathogenic
P35475:p.His186Leu,benign
P35475:p.Phe188Leu,pathogenic
P35475:p.Asp203Asn,benign
P35475:p.Gly208Asp,pathogenic
P35475:p.Ala215Thr,benign
P35475:p.Leu218Pro,pathogenic
P35475:p.Gly219Glu,pathogenic
P35475:p.Ser231Phe,benign
P35475:p.Pro232Phe,benign
P35475:p.Leu233Trp,benign
P35475:p.Ser234Gly,benign
P35475:p.Leu237Pro,benign
P35475:p.Leu238Gln,pathogenic
P35475:p.Arg239Pro,benign
P35475:p.His240Pro,benign
P35475:p.Ala252Val,benign
P35475:p.Gly253Ser,benign
P35475:p.Ser260Phe,pathogenic
P35475:p.Gly265Arg,pathogenic
P35475:p.Glu276Lys,pathogenic
P35475:p.Val278Ala,benign
P35475:p.Arg284Gly,benign
P35475:p.Trp306Leu,pathogenic
P35475:p.Asp315Tyr,pathogenic
P35475:p.Thr317Ala,benign
P35475:p.Ala327Pro,pathogenic
P35475:p.Thr338Ser,benign
P35475:p.Ala340Thr,benign
P35475:p.Phe341Ile,benign
P35475:p.Leu346Arg,pathogenic
P35475:p.Ser347Asn,benign
P35475:p.Asn348Lys,pathogenic
P35475:p.Asp349Asn,pathogenic
P35475:p.Asp349Tyr,pathogenic
P35475:p.Asn350Ile,pathogenic
P35475:p.Pro359Thr,benign
P35475:p.Arg363Cys,pathogenic
P35475:p.Thr366Pro,pathogenic
P35475:p.Gln380Arg,pathogenic
P35475:p.Leu382Val,benign
P35475:p.Arg383His,pathogenic
P35475:p.Pro385Arg,pathogenic
P35475:p.Thr388Arg,pathogenic
P35475:p.Gln407Arg,benign
P35475:p.Gly409Arg,pathogenic
P35475:p.Val420Ile,benign
P35475:p.Ser423Met,benign
P35475:p.Ser423Arg,pathogenic
P35475:p.Ala424Val,benign
P35475:p.Gln428Glu,benign
P35475:p.Gln428Ser,benign
P35475:p.Ala436Pro,pathogenic
P35475:p.Leu458Val,benign
P35475:p.Arg459Gln,benign
P35475:p.Pro467Leu,benign
P35475:p.Asn478Glu,benign
P35475:p.Gly479Pro,benign
P35475:p.Gly479Gln,benign
P35475:p.Gly479Arg,benign
P35475:p.Leu480Gly,benign
P35475:p.Gly485Ser,benign
P35475:p.Arg489Pro,pathogenic
P35475:p.Leu490Pro,pathogenic
P35475:p.Arg492Pro,pathogenic
P35475:p.Pro496Leu,pathogenic
P35475:p.Pro496Arg,pathogenic
P35475:p.Thr497Ser,benign
P35475:p.Met504Thr,pathogenic
P35475:p.Val511Glu,benign
P35475:p.Ala513Thr,benign
P35475:p.Ala514Met,benign
P35475:p.Leu518Phe,benign
P35475:p.Gly521Ser,benign
P35475:p.Pro533Arg,pathogenic
P35475:p.Leu535Phe,pathogenic
P35475:p.Gly589Ser,benign
P35475:p.Ala591Pro,benign
P35475:p.Ala591Val,benign
P35475:p.Val595Ile,benign
P35475:p.Phe602Ile,pathogenic
P35475:p.Ala613Thr,benign
P35475:p.Arg619Gly,pathogenic
P35475:p.Val620Phe,pathogenic
P35475:p.Trp626Arg,pathogenic
P35475:p.Arg628Pro,pathogenic
P35475:p.Asp634Asn,benign
P35475:p.Val641Phe,benign
P35475:p.Pro642Ala,benign
P35475:p.Val643Ala,benign
P35475:p.Ser649Pro,benign
P35475:p.Ser649Thr,benign
P00439:p.Thr3Ala,benign
P00439:p.Ala4Leu,benign
P00439:p.Val5Thr,benign
P00439:p.Leu6Pro,benign
P00439:p.Glu7Thr,benign
P00439:p.Asn8Leu,benign
P00439:p.Pro9Arg,benign
P00439:p.Leu11Phe,benign
P00439:p.Gly12Ala,benign
P00439:p.Gly12Val,benign
P00439:p.Lys14Val,benign
P00439:p.Leu15Phe,benign
P00439:p.Ser16Pro,pathogenic
P00439:p.Asp17Cys,benign
P00439:p.Phe18His,benign
P00439:p.Phe18Leu,benign
P00439:p.Gly19Glu,benign
P00439:p.Gly19His,benign
P00439:p.Gln20Leu,pathogenic
P00439:p.Gln20Val,benign
P00439:p.Ile25Val,benign
P00439:p.Asn28Ser,benign
P00439:p.Cys29Ala,benign
P00439:p.Cys29Ser,benign
P00439:p.Asn30Thr,benign
P00439:p.Phe39Leu,pathogenic
P00439:p.Ser40Leu,pathogenic
P00439:p.Leu41Phe,pathogenic
P00439:p.Leu41Pro,pathogenic
P00439:p.Lys42Ile,pathogenic
P00439:p.Val45Ala,pathogenic
P00439:p.Gly46Ser,pathogenic
P00439:p.Ala47Val,pathogenic
P00439:p.Leu48Ser,pathogenic
P00439:p.Arg53His,pathogenic
P00439:p.Phe55Leu,pathogenic
P00439:p.Glu56Asp,pathogenic
P00439:p.Val60Ile,benign
P00439:p.Asn61Asp,pathogenic
P00439:p.Leu62Pro,pathogenic
P00439:p.Ile65Asn,pathogenic
P00439:p.Ile65Ser,pathogenic
P00439:p.Ile65Thr,pathogenic
P00439:p.Ile65Val,pathogenic
P00439:p.Ser67Pro,pathogenic
P00439:p.Arg68Ser,pathogenic
P00439:p.Glu76Ala,pathogenic
P00439:p.Glu76Gly,pathogenic
P00439:p.Asp84Tyr,pathogenic
P00439:p.Ser87Arg,pathogenic
P00439:p.Thr92Ala,benign
P00439:p.Thr92Ile,pathogenic
P00439:p.Leu98Ser,pathogenic
P00439:p.Arg99Lys,benign
P00439:p.His100Asn,benign
P00439:p.Ala104Asp,pathogenic
P00439:p.Ser110Cys,pathogenic
P00439:p.Phe121Leu,pathogenic
P00439:p.Thr124Ile,pathogenic
P00439:p.Asp129Tyr,pathogenic
P00439:p.Asp143Gly,pathogenic
P00439:p.Asp145Val,pathogenic
P00439:p.His146Tyr,pathogenic
P00439:p.Gly148Ser,pathogenic
P00439:p.Asp151His,pathogenic
P00439:p.Tyr154Asn,pathogenic
P00439:p.Arg155Pro,pathogenic
P00439:p.Arg157Asn,pathogenic
P00439:p.Arg157Ser,pathogenic
P00439:p.Arg158Gln,pathogenic
P00439:p.Arg158Trp,pathogenic
P00439:p.Gln160Pro,pathogenic
P00439:p.Phe161Ser,pathogenic
P00439:p.Ile164Thr,pathogenic
P00439:p.Asn167Ile,pathogenic
P00439:p.Asn167Ser,pathogenic
P00439:p.Arg169His,pathogenic
P00439:p.His170Asp,pathogenic
P00439:p.His170Gln,pathogenic
P00439:p.His170Arg,pathogenic
P00439:p.Gly171Ala,pathogenic
P00439:p.Gly171Arg,pathogenic
P00439:p.Pro173Thr,pathogenic
P00439:p.Ile174Thr,pathogenic
P00439:p.Ile174Val,pathogenic
P00439:p.Pro175Ala,pathogenic
P00439:p.Arg176Leu,pathogenic
P00439:p.Arg176Pro,pathogenic
P00439:p.Arg176Gln,benign
P00439:p.Val177Leu,pathogenic
P00439:p.Val177Met,pathogenic
P00439:p.Glu178Gly,pathogenic
P00439:p.Met180Thr,benign
P00439:p.Glu183Gln,pathogenic
P00439:p.Val190Ala,pathogenic
P00439:p.Leu194Pro,pathogenic
P00439:p.Ser196Tyr,pathogenic
P00439:p.His201Arg,pathogenic
P00439:p.His201Tyr,pathogenic
P00439:p.Tyr204Cys,pathogenic
P00439:p.Glu205Ala,pathogenic
P00439:p.Tyr206Asp,pathogenic
P00439:p.Asn207Asp,pathogenic
P00439:p.Asn207Ser,pathogenic
P00439:p.Pro211Thr,pathogenic
P00439:p.Leu212Pro,pathogenic
P00439:p.Leu213Pro,pathogenic
P00439:p.Cys217Gly,pathogenic
P00439:p.Gly218Val,pathogenic
P00439:p.His220Arg,benign
P00439:p.Glu221Gly,pathogenic
P00439:p.Asp222Val,pathogenic
P00439:p.Asp222Tyr,benign
P00439:p.Ile224Met,pathogenic
P00439:p.Pro225Arg,pathogenic
P00439:p.Pro225Thr,pathogenic
P00439:p.Gln226His,pathogenic
P00439:p.Val230Ile,pathogenic
P00439:p.Ser231Phe,pathogenic
P00439:p.Ser231Pro,pathogenic
P00439:p.Phe233Leu,pathogenic
P00439:p.Thr238Pro,pathogenic
P00439:p.Gly239Ser,pathogenic
P00439:p.Phe240Ser,pathogenic
P00439:p.Arg241Cys,pathogenic
P00439:p.Arg241His,pathogenic
P00439:p.Arg241Leu,pathogenic
P00439:p.Leu242Phe,pathogenic
P00439:p.Arg243Gln,pathogenic
P00439:p.Pro244Leu,pathogenic
P00439:p.Val245Ala,pathogenic
P00439:p.Val245Glu,pathogenic
P00439:p.Val245Leu,pathogenic
P00439:p.Ala246Asp,pathogenic
P00439:p.Gly247Val,pathogenic
P00439:p.Leu248Pro,pathogenic
P00439:p.Leu249Phe,pathogenic
P00439:p.Arg252Gly,pathogenic
P00439:p.Arg252Gln,pathogenic
P00439:p.Arg252Trp,pathogenic
P00439:p.Leu255Ser,pathogenic
P00439:p.Leu255Val,pathogenic
P00439:p.Gly257Cys,pathogenic
P00439:p.Ala259Thr,pathogenic
P00439:p.Ala259Val,pathogenic
P00439:p.Arg261Pro,pathogenic
P00439:p.Arg261Gln,pathogenic
P00439:p.Phe263Leu,pathogenic
P00439:p.His264Leu,pathogenic
P00439:p.Cys265Gly,pathogenic
P00439:p.Ile269Leu,pathogenic
P00439:p.Arg270Lys,pathogenic
P00439:p.Arg270Ser,pathogenic
P00439:p.His271Tyr,pathogenic
P00439:p.Ser273Phe,pathogenic
P00439:p.Pro275Leu,pathogenic
P00439:p.Met276Ile,pathogenic
P00439:p.Met276Val,pathogenic
P00439:p.Tyr277Cys,pathogenic
P00439:p.Tyr277Asp,pathogenic
P00439:p.Thr278Ala,pathogenic
P00439:p.Thr278Asn,pathogenic
P00439:p.Glu280Lys,pathogenic
P00439:p.Glu280Gln,benign
P00439:p.Pro281Leu,pathogenic
P00439:p.Asp282Asn,pathogenic
P00439:p.Ile283Phe,pathogenic
P00439:p.Ile283Asn,pathogenic
P00439:p.His290Tyr,pathogenic
P00439:p.Arg297Cys,pathogenic
P00439:p.Arg297His,pathogenic
P00439:p.Phe299Cys,pathogenic
P00439:p.Ala300Ser,pathogenic
P00439:p.Ala300Val,pathogenic
P00439:p.Ser303Pro,pathogenic
P00439:p.Gln304Arg,pathogenic
P00439:p.Ile306Cys,benign
P00439:p.Ile306Val,pathogenic
P00439:p.Gly307Ser,benign
P00439:p.Leu308Ala,benign
P00439:p.Ala309Asp,pathogenic
P00439:p.Ala309Val,pathogenic
P00439:p.Ser310Phe,pathogenic
P00439:p.Ser310Tyr,pathogenic
P00439:p.Leu311Pro,pathogenic
P00439:p.Ala313His,benign
P00439:p.Pro314His,pathogenic
P00439:p.Pro314Ser,pathogenic
P00439:p.Asp315Ser,benign
P00439:p.Glu316Pro,benign
P00439:p.Tyr317Phe,benign
P00439:p.Ile318Thr,pathogenic
P00439:p.Glu319Asp,benign
P00439:p.Lys320Phe,benign
P00439:p.Leu321Pro,benign
P00439:p.Ala322Phe,benign
P00439:p.Ala322Gly,pathogenic
P00439:p.Ala322Thr,pathogenic
P00439:p.Ala322Val,pathogenic
P00439:p.Thr323Gln,benign
P00439:p.Tyr325Cys,pathogenic
P00439:p.Glu330Asp,pathogenic
P00439:p.Phe331Leu,pathogenic
P00439:p.Leu333Phe,pathogenic
P00439:p.Cys334Ser,pathogenic
P00439:p.Gly337Val,pathogenic
P00439:p.Asp338Tyr,pathogenic
P00439:p.Ser339Ala,benign
P00439:p.Ser339Thr,benign
P00439:p.Lys341Arg,pathogenic
P00439:p.Lys341Thr,pathogenic
P00439:p.Ala342Thr,pathogenic
P00439:p.Tyr343Cys,pathogenic
P00439:p.Gly344Arg,pathogenic
P00439:p.Gly344Val,pathogenic
P00439:p.Ala345Ser,pathogenic
P00439:p.Ala345Thr,pathogenic
P00439:p.Leu347Phe,pathogenic
P00439:p.Leu348Val,pathogenic
P00439:p.Ser349Leu,pathogenic
P00439:p.Ser349Pro,pathogenic
P00439:p.Ser350Thr,pathogenic
P00439:p.Tyr356His,benign
P00439:p.Cys357Gly,pathogenic
P00439:p.Glu360Asp,benign
P00439:p.Pro362Thr,pathogenic
P00439:p.Lys363Thr,benign
P00439:p.Leu364Val,benign
P00439:p.Pro366His,pathogenic
P00439:p.Thr372Ser,pathogenic
P00439:p.Asn376Lys,benign
P00439:p.Tyr377Cys,pathogenic
P00439:p.Thr378Ser,benign
P00439:p.Thr380Met,pathogenic
P00439:p.Tyr386Cys,pathogenic
P00439:p.Tyr387His,pathogenic
P00439:p.Val388Leu,pathogenic
P00439:p.Val388Met,pathogenic
P00439:p.Glu390Gly,pathogenic
P00439:p.Asn393His,benign
P00439:p.Asp394Ala,pathogenic
P00439:p.Asp394His,pathogenic
P00439:p.Ala395Gly,pathogenic
P00439:p.Ala395Pro,pathogenic
P00439:p.Ala403Val,pathogenic
P00439:p.Pro407Leu,pathogenic
P00439:p.Pro407Ser,pathogenic
P00439:p.Arg408Gln,pathogenic
P00439:p.Arg408Trp,pathogenic
P00439:p.Phe410Ser,pathogenic
P00439:p.Arg413His,benign
P00439:p.Arg413Pro,pathogenic
P00439:p.Arg413Ser,pathogenic
P00439:p.Tyr414Cys,pathogenic
P00439:p.Asp415Asn,pathogenic
P00439:p.Tyr417His,pathogenic
P00439:p.Thr418Pro,pathogenic
P00439:p.Ile421Ser,pathogenic
P00439:p.Leu430Pro,pathogenic
P00439:p.Ala447Asp,pathogenic
P00439:p.Ile451Met,benign
P00966:p.Ser2Ala,benign
P00966:p.Ser2Thr,benign
P00966:p.Ser3Gly,benign
P00966:p.Gly5Ala,benign
P00966:p.Val7Met,benign
P00966:p.Gly14Ser,pathogenic
P00966:p.Ser18Leu,pathogenic
P00966:p.Cys19Arg,pathogenic
P00966:p.Val31Asp,benign
P00966:p.Ile32Val,benign
P00966:p.Ile38Val,benign
P00966:p.Gln40Leu,pathogenic
P00966:p.Leu52Met,benign
P00966:p.Lys57Arg,benign
P00966:p.Lys57Ser,benign
P00966:p.Phe60Tyr,benign
P00966:p.Val64Ile,benign
P00966:p.Val64Leu,benign
P00966:p.Ser65Thr,benign
P00966:p.Arg66Glu,benign
P00966:p.Arg66Lys,benign
P00966:p.Val69Ala,pathogenic
P00966:p.Glu70Lys,benign
P00966:p.Glu70Gln,benign
P00966:p.Ile73Val,benign
P00966:p.Trp74Cys,benign
P00966:p.Pro75Leu,benign
P00966:p.Ile77Val,benign
P00966:p.Ser79Ala,benign
P00966:p.Ser79Pro,pathogenic
P00966:p.Ser80Gly,benign
P00966:p.Ala81Ser,benign
P00966:p.Leu82Met,benign
P00966:p.Glu84Gln,benign
P00966:p.Arg86Cys,pathogenic
P00966:p.Arg86Gly,benign
P00966:p.Arg86His,pathogenic
P00966:p.Ser92Ala,benign
P00966:p.Arg95Ser,pathogenic
P00966:p.Pro96His,pathogenic
P00966:p.Pro96Ser,pathogenic
P00966:p.Arg100Cys,benign
P00966:p.Lys101Arg,benign
P00966:p.Gln107Lys,benign
P00966:p.Gln107Met,benign
P00966:p.Gln107Arg,benign
P00966:p.Arg108Leu,pathogenic
P00966:p.Arg108Gln,benign
P00966:p.Lys112Gln,benign
P00966:p.Gly117Asp,pathogenic
P00966:p.Gly117Ser,pathogenic
P00966:p.Ala118Thr,pathogenic
P00966:p.Thr119Ile,pathogenic
P00966:p.Gly120Leu,benign
P00966:p.Asp124Asn,pathogenic
P00966:p.Val126Asp,benign
P00966:p.Val126Ile,benign
P00966:p.Arg127Gln,pathogenic
P00966:p.Arg127Trp,pathogenic
P00966:p.Ser131Thr,benign
P00966:p.Gln138His,benign
P00966:p.Gln138Lys,benign
P00966:p.Asn152Thr,benign
P00966:p.Lys155Gln,benign
P00966:p.Lys155Arg,benign
P00966:p.Arg157Cys,pathogenic
P00966:p.Arg157His,pathogenic
P00966:p.Asn158Ser,benign
P00966:p.Leu160Pro,pathogenic
P00966:p.Glu162Asp,benign
P00966:p.Ile171Val,benign
P00966:p.Thr174Ser,benign
P00966:p.Asn177Ser,benign
P00966:p.Pro178Leu,benign
P00966:p.Trp179Arg,pathogenic
P00966:p.Ser180Asn,pathogenic
P00966:p.Tyr190Asp,pathogenic
P00966:p.Glu191Lys,pathogenic
P00966:p.Glu191Gln,pathogenic
P00966:p.Ala192Val,pathogenic
P00966:p.Asn200Ser,benign
P00966:p.Gln201His,benign
P00966:p.Gln201Pro,benign
P00966:p.Ala202Glu,pathogenic
P00966:p.Ala202Lys,benign
P00966:p.Gly205Asp,benign
P00966:p.Gly205Asn,benign
P00966:p.Leu206His,benign
P00966:p.Leu206Pro,pathogenic
P00966:p.Gln211Glu,benign
P00966:p.Ala214Ser,benign
P00966:p.Ala214Thr,benign
P00966:p.Ala216Gly,benign
P00966:p.Ala216Ser,benign
P00966:p.Ala216Thr,benign
P00966:p.Asn218Asp,benign
P00966:p.Asn218Ser,benign
P00966:p.Thr219Asn,benign
P00966:p.Thr219Ser,benign
P00966:p.Ile222Phe,benign
P00966:p.Ile222Met,benign
P00966:p.Ile222Thr,benign
P00966:p.Ile222Val,benign
P00966:p.Glu226His,benign
P00966:p.Glu226Gln,benign
P00966:p.Lys229Gln,benign
P00966:p.Lys229Arg,benign
P00966:p.Lys234Gln,benign
P00966:p.Asn237Ser,benign
P00966:p.Val238Ile,benign
P00966:p.Lys239Gly,benign
P00966:p.Lys239Gln,benign
P00966:p.Lys239Arg,benign
P00966:p.Gly241Asp,benign
P00966:p.Thr242Ile,benign
P00966:p.Thr243Ser,benign
P00966:p.His244Arg,benign
P00966:p.Gln245Cys,benign
P00966:p.Gln245His,benign
P00966:p.Gln245Arg,benign
P00966:p.Gln245Ser,benign
P00966:p.Gln245Thr,benign
P00966:p.Thr246Ser,benign
P00966:p.Ser247Ala,benign
P00966:p.Glu249Asp,benign
P00966:p.Met252Ala,benign
P00966:p.Met252Leu,benign
P00966:p.Met252Thr,benign
P00966:p.Met252Val,benign
P00966:p.Glu256Asp,benign
P00966:p.Glu256Lys,benign
P00966:p.Val257Ile,benign
P00966:p.Lys260Arg,benign
P00966:p.Val263Met,pathogenic
P00966:p.Arg265Cys,pathogenic
P00966:p.Arg265His,pathogenic
P00966:p.Ile266Val,benign
P00966:p.Val269Met,pathogenic
P00966:p.Glu270Gln,pathogenic
P00966:p.Arg272Cys,pathogenic
P00966:p.Ile274Val,benign
P00966:p.Lys277Thr,pathogenic
P00966:p.Arg279Gln,pathogenic
P00966:p.Gly280Arg,pathogenic
P00966:p.Glu283Lys,pathogenic
P00966:p.Thr284Ile,pathogenic
P00966:p.Ile289Val,benign
P00966:p.Tyr291Ser,pathogenic
P00966:p.Asp296Gly,pathogenic
P00966:p.Glu298Lys,benign
P00966:p.Met302Val,pathogenic
P00966:p.Arg304Trp,pathogenic
P00966:p.Arg307Cys,pathogenic
P00966:p.Lys308Arg,benign
P00966:p.Ile309Val,benign
P00966:p.Lys310Gln,pathogenic
P00966:p.Lys310Arg,pathogenic
P00966:p.Thr323Met,benign
P00966:p.Gly324Ser,pathogenic
P00966:p.Gly324Val,pathogenic
P00966:p.Phe333Tyr,benign
P00966:p.His336Tyr,benign
P00966:p.Ala339Asp,benign
P00966:p.Ala339Gln,benign
P00966:p.Ala339Thr,benign
P00966:p.Ser341Phe,pathogenic
P00966:p.Arg344His,benign
P00966:p.Arg344Trp,benign
P00966:p.Val345Gly,pathogenic
P00966:p.Gly347Arg,pathogenic
P00966:p.Lys348Arg,benign
P00966:p.Lys348Thr,benign
P00966:p.Gln350His,benign
P00966:p.Gln350Arg,benign
P00966:p.Gln350Thr,benign
P00966:p.Val351Leu,benign
P00966:p.Val353Ile,benign
P00966:p.Leu354Phe,benign
P00966:p.Lys355Arg,benign
P00966:p.Tyr359Asp,pathogenic
P00966:p.Ile360Val,benign
P00966:p.Gly362Ala,benign
P00966:p.Gly362Ser,benign
P00966:p.Gly362Val,pathogenic
P00966:p.Arg363Gly,pathogenic
P00966:p.Arg363Leu,pathogenic
P00966:p.Arg363Gln,pathogenic
P00966:p.Arg363Trp,pathogenic
P00966:p.Asn378Ser,benign
P00966:p.Asp382Asn,benign
P00966:p.Thr386Gly,benign
P00966:p.Thr386Ile,benign
P00966:p.Thr386Leu,benign
P00966:p.Thr386Ser,benign
P00966:p.Thr386Val,benign
P00966:p.Thr389Ile,pathogenic
P00966:p.Gly390Arg,pathogenic
P00966:p.Leu405Val,benign
P00966:p.Ser407Asn,benign
P00966:p.Lys408Thr,benign
P00966:p.Thr410Ala,benign
P00966:p.Ala411Gly,benign
P00966:p.Ala411Thr,benign
P15289:p.Met1Leu,benign
P15289:p.Gly2Thr,benign
P15289:p.Ala3Thr,benign
P15289:p.Pro4Arg,benign
P15289:p.Arg5Ser,benign
P15289:p.Ser6Thr,benign
P15289:p.Leu15Pro,benign
P15289:p.Ala16Phe,benign
P15289:p.Val17Ala,benign
P15289:p.Ala18Asp,pathogenic
P15289:p.Asp29Asn,pathogenic
P15289:p.Asp30His,pathogenic
P15289:p.Gly32Ser,pathogenic
P15289:p.Gln51Arg,benign
P15289:p.Leu52Gly,benign
P15289:p.Leu52Pro,pathogenic
P15289:p.Ala53Gly,benign
P15289:p.Gly55Ala,benign
P15289:p.Phe59Leu,benign
P15289:p.Val66Ala,benign
P15289:p.Ser67Pro,benign
P15289:p.Leu68Pro,pathogenic
P15289:p.Pro82Leu,pathogenic
P15289:p.Arg84Gln,pathogenic
P15289:p.Arg84Trp,pathogenic
P15289:p.Met85Thr,benign
P15289:p.Gly86Asp,pathogenic
P15289:p.Val93Glu,benign
P15289:p.Val93Met,benign
P15289:p.Pro94Ala,pathogenic
P15289:p.Ser95Asn,pathogenic
P15289:p.Ser96Phe,pathogenic
P15289:p.Ser96Leu,pathogenic
P15289:p.Gly99Asp,pathogenic
P15289:p.Gly99Val,pathogenic
P15289:p.Val107Leu,benign
P15289:p.Arg114Gln,benign
P15289:p.Gly119Arg,pathogenic
P15289:p.Gly122Ser,pathogenic
P15289:p.Pro130Ser,benign
P15289:p.Leu135Pro,pathogenic
P15289:p.Pro136Leu,pathogenic
P15289:p.Pro136Ser,pathogenic
P15289:p.His138Asp,pathogenic
P15289:p.Arg143Gly,pathogenic
P15289:p.Pro148Leu,pathogenic
P15289:p.Asp152Tyr,pathogenic
P15289:p.Gln153His,pathogenic
P15289:p.Gly154Asp,pathogenic
P15289:p.Pro155Leu,pathogenic
P15289:p.Pro155Arg,pathogenic
P15289:p.Cys156Arg,pathogenic
P15289:p.Gln157Trp,benign
P15289:p.Ala165Asp,benign
P15289:p.Pro167Arg,pathogenic
P15289:p.Asp169Asn,pathogenic
P15289:p.Cys172Tyr,pathogenic
P15289:p.Ile179Ser,pathogenic
P15289:p.Leu181Gln,pathogenic
P15289:p.Gln190His,pathogenic
P15289:p.Pro191Thr,pathogenic
P15289:p.Gly196Arg,benign
P15289:p.Tyr201Cys,pathogenic
P15289:p.Met202Ile,benign
P15289:p.Met202Val,benign
P15289:p.His206Arg,benign
P15289:p.Ala212Pro,pathogenic
P15289:p.Ala212Val,pathogenic
P15289:p.Arg217His,pathogenic
P15289:p.Phe219Val,pathogenic
P15289:p.Ala224Val,pathogenic
P15289:p.His227Pro,benign
P15289:p.His227Tyr,pathogenic
P15289:p.Pro231Thr,pathogenic
P15289:p.Ser237Asn,benign
P15289:p.Glu240Lys,benign
P15289:p.Arg244Cys,pathogenic
P15289:p.Arg244His,pathogenic
P15289:p.Gly245Arg,pathogenic
P15289:p.Phe247Ser,pathogenic
P15289:p.Ser250Tyr,pathogenic
P15289:p.Glu253Lys,pathogenic
P15289:p.Asp255His,pathogenic
P15289:p.Thr260Ala,benign
P15289:p.Gly266Arg,benign
P15289:p.Thr274Met,pathogenic
P15289:p.Asp281Tyr,pathogenic
P15289:p.Asn282Ser,pathogenic
P15289:p.Thr286Pro,pathogenic
P15289:p.Arg288Cys,pathogenic
P15289:p.Arg288His,pathogenic
P15289:p.Gly293Asp,pathogenic
P15289:p.Gly293Ser,pathogenic
P15289:p.Cys294Tyr,pathogenic
P15289:p.Ser295Tyr,pathogenic
P15289:p.Leu298Ser,pathogenic
P15289:p.Cys300Phe,pathogenic
P15289:p.Lys302Asn,pathogenic
P15289:p.Thr304Met,pathogenic
P15289:p.Tyr306His,pathogenic
P15289:p.Glu307Lys,pathogenic
P15289:p.Gly308Asp,pathogenic
P15289:p.Gly308Val,pathogenic
P15289:p.Gly309Ser,pathogenic
P15289:p.Arg311Gln,pathogenic
P15289:p.Glu312Asp,pathogenic
P15289:p.Ala314Thr,pathogenic
P15289:p.Ala323Thr,benign
P15289:p.Gly325Ser,pathogenic
P15289:p.Thr327Ile,pathogenic
P15289:p.Ala331Ser,benign
P15289:p.Asp335Val,pathogenic
P15289:p.Leu340Val,benign
P15289:p.Pro360Asp,benign
P15289:p.Lys367Asn,pathogenic
P15289:p.Arg370Gln,pathogenic
P15289:p.Arg370Trp,pathogenic
P15289:p.Gln371Arg,benign
P15289:p.Tyr376Asn,pathogenic
P15289:p.Pro377Leu,pathogenic
P15289:p.Tyr379Asp,benign
P15289:p.Asp381Glu,pathogenic
P15289:p.Glu382Lys,pathogenic
P15289:p.Arg384Cys,pathogenic
P15289:p.Arg384His,benign
P15289:p.Arg390Gln,pathogenic
P15289:p.Arg390Trp,pathogenic
P15289:p.Thr391Asn,benign
P15289:p.Thr391Ser,benign
P15289:p.His397Tyr,pathogenic
P15289:p.Phe399Leu,benign
P15289:p.Ser406Gly,pathogenic
P15289:p.Asp407Glu,benign
P15289:p.Thr408Ile,pathogenic
P15289:p.Thr409Ile,pathogenic
P15289:p.Ala410Pro,benign
P15289:p.Pro425Thr,pathogenic
P15289:p.Pro426Leu,pathogenic
P15289:p.Leu428Pro,pathogenic
P15289:p.Tyr429Ser,pathogenic
P15289:p.Lys433Glu,benign
P15289:p.Gly447Lys,benign
P15289:p.Ala448Thr,benign
P15289:p.Leu456Met,benign
P15289:p.Leu462Ile,benign
P15289:p.Ala468Val,benign
P15289:p.Ala469Gly,pathogenic
P15289:p.Ala469Ser,benign
P15289:p.Val477Met,benign
P15289:p.Arg479Gln,benign
P15289:p.Ala484Asn,benign
P15289:p.Cys489Gly,pathogenic
P15289:p.His490Gln,benign
P15289:p.His490Arg,benign
P15289:p.Gly492Ser,benign
P15289:p.Arg496His,benign
P15289:p.His501Arg,benign
P15289:p.Ala507Arg,benign
P08686:p.Leu3Phe,benign
P08686:p.Gly5Ser,benign
P08686:p.Pro10Ser,benign
P08686:p.Ala15Thr,pathogenic
P08686:p.Trp21Cys,benign
P08686:p.Trp21Arg,benign
P08686:p.Lys23Gln,benign
P08686:p.Leu24Arg,benign
P08686:p.Arg25Gln,benign
P08686:p.Pro30Leu,pathogenic
P08686:p.Pro30Gln,pathogenic
P08686:p.Ala33Val,benign
P08686:p.Asp43Asn,benign
P08686:p.Gly50Val,benign
P08686:p.Gly56Arg,pathogenic
P08686:p.Ile58Val,benign
P08686:p.His62Leu,pathogenic
P08686:p.Gly64Glu,pathogenic
P08686:p.Ile77Thr,pathogenic
P08686:p.Gly90Val,pathogenic
P08686:p.Pro92Thr,benign
P08686:p.Lys102Arg,benign
P08686:p.Pro105Leu,pathogenic
P08686:p.Leu107Arg,pathogenic
P08686:p.Lys121Gln,pathogenic
P08686:p.Arg124His,pathogenic
P08686:p.Ile131Leu,benign
P08686:p.Ile131Met,benign
P08686:p.Val139Glu,benign
P08686:p.Leu142Pro,pathogenic
P08686:p.Glu145Asp,benign
P08686:p.Cys147Arg,benign
P08686:p.Pro154Ala,benign
P08686:p.Gly155Ser,benign
P08686:p.Leu166Pro,benign
P08686:p.Leu167Pro,pathogenic
P08686:p.Cys169Tyr,pathogenic
P08686:p.Ile172Asn,pathogenic
P08686:p.Tyr174His,benign
P08686:p.Gly178Ala,pathogenic
P08686:p.Asp183Glu,benign
P08686:p.Met187Val,benign
P08686:p.Tyr190Cys,benign
P08686:p.Val211Leu,pathogenic
P08686:p.Arg224Trp,benign
P08686:p.Gln228Lys,benign
P08686:p.Ile230Thr,pathogenic
P08686:p.Lys232Arg,benign
P08686:p.Arg233Gly,benign
P08686:p.Arg233Lys,pathogenic
P08686:p.Ile236Phe,benign
P08686:p.Ile236Asn,pathogenic
P08686:p.Val237Glu,pathogenic
P08686:p.Met239Lys,pathogenic
P08686:p.Glu246Ala,benign
P08686:p.Gln252Arg,benign
P08686:p.Asp255Gly,benign
P08686:p.Met257Thr,benign
P08686:p.Leu261Pro,pathogenic
P08686:p.Gly263Val,benign
P08686:p.Ser268Thr,benign
P08686:p.Met269Val,benign
P08686:p.Gly272Asp,benign
P08686:p.Val281Gly,pathogenic
P08686:p.Val281Leu,pathogenic
P08686:p.Met283Leu,pathogenic
P08686:p.Ala285Val,benign
P08686:p.Ile290Val,benign
P08686:p.Gly291Cys,pathogenic
P08686:p.Gly291Arg,pathogenic
P08686:p.Gly291Ser,pathogenic
P08686:p.Gly292Asp,pathogenic
P08686:p.Thr295Asn,benign
P08686:p.Asn298His,benign
P08686:p.Asn298Val,benign
P08686:p.Leu300Phe,pathogenic
P08686:p.Ser301Tyr,pathogenic
P08686:p.Val304Met,benign
P08686:p.Leu308Phe,benign
P08686:p.Leu317Met,pathogenic
P08686:p.Glu320Lys,pathogenic
P08686:p.Glu324Gln,benign
P08686:p.Gly328Ser,benign
P08686:p.Arg339His,pathogenic
P08686:p.Arg341Pro,pathogenic
P08686:p.Arg341Trp,pathogenic
P08686:p.Leu345Phe,benign
P08686:p.Arg354Cys,pathogenic
P08686:p.Arg354His,pathogenic
P08686:p.Leu355Pro,benign
P08686:p.Arg356Pro,pathogenic
P08686:p.Arg356Gln,pathogenic
P08686:p.Arg356Trp,pathogenic
P08686:p.Ala362Val,pathogenic
P08686:p.Leu363Trp,pathogenic
P08686:p.His365Tyr,pathogenic
P08686:p.Arg366Cys,benign
P08686:p.Arg366His,benign
P08686:p.Arg369Trp,pathogenic
P08686:p.Glu380Asp,pathogenic
P08686:p.Asn387Lys,benign
P08686:p.Leu388Phe,benign
P08686:p.Ala391Thr,benign
P08686:p.Thr396Met,benign
P08686:p.Arg408Cys,pathogenic
P08686:p.Pro412Leu,benign
P08686:p.Gly424Arg,benign
P08686:p.Gly424Ser,pathogenic
P08686:p.Arg426His,pathogenic
P08686:p.Arg435Cys,pathogenic
P08686:p.Thr443Ala,benign
P08686:p.Arg444Gln,benign
P08686:p.Pro453Ser,pathogenic
P08686:p.Ser454Pro,benign
P08686:p.His466Tyr,benign
P08686:p.Ser468Gly,benign
P08686:p.Met473Ile,benign
P08686:p.Arg479Leu,pathogenic
P08686:p.Arg479Trp,benign
P08686:p.Pro482Ser,pathogenic
P08686:p.Arg483Pro,pathogenic
P08686:p.Arg483Gln,pathogenic
P08686:p.Arg483Trp,pathogenic
P08686:p.Gly484Glu,benign
P08686:p.Met485Leu,benign
P08686:p.Ala487Val,benign
P08686:p.Ser489Asn,benign
P08686:p.Pro490Leu,benign
P08686:p.Asn493Ser,benign
P35555:p.Met1Ala,benign
P35555:p.Met1Gly,benign
P35555:p.Met1Arg,benign
P35555:p.Arg2Lys,benign
P35555:p.Arg2Met,benign
P35555:p.Arg2Pro,benign
P35555:p.Arg2Gln,benign
P35555:p.Arg2Val,benign
P35555:p.Arg2Trp,benign
P35555:p.Arg3Asp,benign
P35555:p.Arg3Glu,benign
P35555:p.Arg3Gly,benign
P35555:p.Gly4Arg,benign
P35555:p.Arg5Ala,benign
P35555:p.Arg5Glu,benign
P35555:p.Arg5Gly,benign
P35555:p.Leu6Ala,benign
P35555:p.Leu6Ile,benign
P35555:p.Leu6Met,benign
P35555:p.Leu6Pro,benign
P35555:p.Leu6Val,benign
P35555:p.Leu7Pro,benign
P35555:p.Ile9Ala,benign
P35555:p.Ile9Val,benign
P35555:p.Ala10Phe,benign
P35555:p.Ala10Ile,benign
P35555:p.Ala10Leu,benign
P35555:p.Ala10Met,benign
P35555:p.Ala10Val,benign
P35555:p.Leu11Tyr,benign
P35555:p.Gly12Ala,benign
P35555:p.Phe13Ile,benign
P35555:p.Thr14Ala,benign
P35555:p.Thr14Ile,benign
P35555:p.Thr14Leu,benign
P35555:p.Thr14Ser,benign
P35555:p.Thr14Val,benign
P35555:p.Val15Cys,benign
P35555:p.Val15Leu,benign
P35555:p.Val15Met,benign
P35555:p.Leu16Phe,benign
P35555:p.Leu16Ile,benign
P35555:p.Leu17Cys,benign
P35555:p.Ala18Glu,benign
P35555:p.Ala18Phe,benign
P35555:p.Ala18Ser,benign
P35555:p.Ala18Thr,benign
P35555:p.Ser19Arg,benign
P35555:p.Tyr20Cys,pathogenic
P35555:p.Tyr20His,benign
P35555:p.Ser22Gly,benign
P35555:p.His23Asn,benign
P35555:p.His23Gln,benign
P35555:p.His23Tyr,benign
P35555:p.Gly24Ala,benign
P35555:p.Gly24Arg,benign
P35555:p.Ala25Pro,benign
P35555:p.Ala25Val,benign
P35555:p.Asp26Glu,benign
P35555:p.Asp26Thr,benign
P35555:p.Ala27Gly,benign
P35555:p.Ala27Pro,benign
P35555:p.Ala27Ser,benign
P35555:p.Ala27Thr,benign
P35555:p.Ala27Val,benign
P35555:p.Leu29Glu,benign
P35555:p.Leu29Ile,benign
P35555:p.Leu29Met,benign
P35555:p.Leu29Ser,benign
P35555:p.Leu29Val,benign
P35555:p.Glu30Ala,benign
P35555:p.Glu30Gly,benign
P35555:p.Ala31Glu,benign
P35555:p.Ala31Gly,benign
P35555:p.Ala31Ser,benign
P35555:p.Gly32Trp,benign
P35555:p.Asn33Ser,benign
P35555:p.Val34Ala,benign
P35555:p.Val34Gly,benign
P35555:p.Val34Leu,benign
P35555:p.Val34Met,benign
P35555:p.Val34Pro,benign
P35555:p.Lys35Phe,benign
P35555:p.Glu36Ser,benign
P35555:p.Thr37Ile,benign
P35555:p.Thr37Met,benign
P35555:p.Thr37Pro,benign
P35555:p.Thr37Ser,benign
P35555:p.Arg38Glu,benign
P35555:p.Arg38Tyr,benign
P35555:p.Ala39Pro,benign
P35555:p.Ala39Val,benign
P35555:p.Ser40Ala,benign
P35555:p.Ser40Met,benign
P35555:p.Ser40Asn,benign
P35555:p.Arg41Glu,benign
P35555:p.Ala42Glu,benign
P35555:p.Ala42Gly,benign
P35555:p.Lys43Pro,benign
P35555:p.Lys43Arg,benign
P35555:p.Arg45Val,benign
P35555:p.Gly46His,benign
P35555:p.Gly47Gln,benign
P35555:p.His50Leu,benign
P35555:p.Asp51Asn,benign
P35555:p.Ala52Thr,benign
P35555:p.Gly55Met,benign
P35555:p.Arg62Cys,pathogenic
P35555:p.Arg62His,benign
P35555:p.Tyr63Phe,benign
P35555:p.Asn64Ser,benign
P35555:p.Cys80Gly,pathogenic
P35555:p.Val82Pro,benign
P35555:p.Pro83His,benign
P35555:p.Pro83Arg,benign
P35555:p.Ile84Met,benign
P35555:p.Ile84Pro,benign
P35555:p.Ile84Ser,benign
P35555:p.His87Leu,benign
P35555:p.His87Asn,benign
P35555:p.His87Gln,benign
P35555:p.Ser88Ala,benign
P35555:p.Ser88Lys,benign
P35555:p.Cys89Phe,pathogenic
P35555:p.Cys89Lys,benign
P35555:p.Gly90Arg,benign
P35555:p.Arg96Lys,benign
P35555:p.Ala108Ser,benign
P35555:p.Cys111Arg,pathogenic
P35555:p.Arg114Cys,pathogenic
P35555:p.Ser115Cys,pathogenic
P35555:p.Asn120Ser,benign
P35555:p.Arg122Cys,pathogenic
P35555:p.Cys123Tyr,pathogenic
P35555:p.Met124Leu,benign
P35555:p.Cys129Tyr,pathogenic
P35555:p.Ser130Asn,benign
P35555:p.Asp131Glu,benign
P35555:p.Leu135Ile,benign
P35555:p.Gln137Pro,benign
P35555:p.Ile141Thr,benign
P35555:p.Ile141Val,benign
P35555:p.His144Gln,benign
P35555:p.Cys154Ser,pathogenic
P35555:p.Cys166Phe,pathogenic
P35555:p.Cys166Ser,pathogenic
P35555:p.Cys177Arg,pathogenic
P35555:p.Thr188Ala,benign
P35555:p.Ile190Val,benign
P35555:p.Val213Ile,benign
P35555:p.Trp217Gly,pathogenic
P35555:p.Cys224Arg,pathogenic
P35555:p.Ala226Pro,benign
P35555:p.Ile239Val,benign
P35555:p.Arg240Cys,pathogenic
P35555:p.Asp246Lys,benign
P35555:p.Val247Leu,benign
P35555:p.Asp248Gln,benign
P35555:p.Glu249Tyr,benign
P35555:p.Cys250Phe,benign
P35555:p.Ala252Lys,benign
P35555:p.Leu256Met,benign
P35555:p.Leu279Phe,benign
P35555:p.Glu281Asp,benign
P35555:p.Val282Ala,benign
P35555:p.Ser283Thr,benign
P35555:p.Glu287Lys,benign
P35555:p.Ser293Thr,benign
P35555:p.Ile295Phe,benign
P35555:p.Ile298Val,benign
P35555:p.Glu300Asp,benign
P35555:p.Pro316Ala,benign
P35555:p.Thr321Ala,benign
P35555:p.Thr321Pro,benign
P35555:p.Pro323Ser,benign
P35555:p.Asp324Glu,benign
P35555:p.Arg327Lys,benign
P35555:p.Ile329Thr,benign
P35555:p.Ile329Val,benign
P35555:p.Thr338Ala,benign
P35555:p.Thr338Lys,benign
P35555:p.Ala339Thr,benign
P35555:p.Thr341Ala,benign
P35555:p.Arg344His,benign
P35555:p.Asn347Ser,benign
P35555:p.Leu349Met,benign
P35555:p.Ile353Met,benign
P35555:p.Ile353Thr,benign
P35555:p.Ile353Val,benign
P35555:p.Met356Val,benign
P35555:p.Ala362Ile,benign
P35555:p.Ala362Leu,benign
P35555:p.Ala362Met,benign
P35555:p.Ala362Ser,benign
P35555:p.Ala362Thr,benign
P35555:p.Ala362Val,benign
P35555:p.Trp366Cys,pathogenic
P35555:p.Ser367Ala,benign
P35555:p.Gly369Ala,benign
P35555:p.Gly369Ser,benign
P35555:p.Val370Ala,benign
P35555:p.Val370Ile,benign
P35555:p.Thr371Ala,benign
P35555:p.Val372Ile,benign
P35555:p.Val372Leu,benign
P35555:p.Ala373Thr,benign
P35555:p.Ala373Val,benign
P35555:p.Ala381Ser,benign
P35555:p.Asp384Glu,benign
P35555:p.Phe385Tyr,benign
P35555:p.Ser390Ala,benign
P35555:p.Val391Ile,benign
P35555:p.Pro392Ser,benign
P35555:p.Met393Ile,benign
P35555:p.Met393Leu,benign
P35555:p.Met393Val,benign
P35555:p.Val394Gly,benign
P35555:p.Val394Thr,benign
P35555:p.Ile395Phe,benign
P35555:p.Ile395Leu,benign
P35555:p.Ile395Val,benign
P35555:p.Gly397Ala,benign
P35555:p.Gly397Glu,benign
P35555:p.Gly397Pro,benign
P35555:p.Gly397Ser,benign
P35555:p.Gly397Val,benign
P35555:p.Glu400Asp,benign
P35555:p.Glu400Gly,benign
P35555:p.Tyr401Phe,benign
P35555:p.Pro403Leu,benign
P35555:p.Pro403Ser,benign
P35555:p.Pro403Val,benign
P35555:p.Pro403Tyr,benign
P35555:p.Pro404Ala,benign
P35555:p.Leu406Ala,benign
P35555:p.Leu406Ile,benign
P35555:p.Leu406Val,benign
P35555:p.Gly407Ala,benign
P35555:p.Ile409His,benign
P35555:p.Ile409Leu,benign
P35555:p.Ile409Val,benign
P35555:p.Pro410Ala,benign
P35555:p.Pro410Leu,benign
P35555:p.Pro410Ser,benign
P35555:p.Val412Ile,benign
P35555:p.Val412Leu,benign
P35555:p.Leu413His,benign
P35555:p.Leu413Pro,benign
P35555:p.Leu413Gln,benign
P35555:p.Leu413Val,benign
P35555:p.Pro414Ala,benign
P35555:p.Pro414Ser,benign
P35555:p.Val415Gly,benign
P35555:p.Val415Ile,benign
P35555:p.Pro416Ala,benign
P35555:p.Pro416Ile,benign
P35555:p.Pro416Leu,benign
P35555:p.Pro416Ser,benign
P35555:p.Pro416Val,benign
P35555:p.Gly418His,benign
P35555:p.Gly418Leu,benign
P35555:p.Gly418Val,benign
P35555:p.Phe419Tyr,benign
P35555:p.Pro420Phe,benign
P35555:p.Pro421Ser,benign
P35555:p.Gly422Val,benign
P35555:p.Pro423Ser,benign
P35555:p.Pro423Val,benign
P35555:p.Gln424Ala,benign
P35555:p.Gln424Gly,benign
P35555:p.Gln424His,benign
P35555:p.Gln424Pro,benign
P35555:p.Gln424Thr,benign
P35555:p.Gln424Val,benign
P35555:p.Ile425Gly,benign
P35555:p.Ile425Leu,benign
P35555:p.Ile425Pro,benign
P35555:p.Ile425Val,benign
P35555:p.Pro426Leu,benign
P35555:p.Pro426Met,benign
P35555:p.Pro426Ser,benign
P35555:p.Pro426Thr,benign
P35555:p.Val427Ala,benign
P35555:p.Val427Gly,benign
P35555:p.Val427Ile,benign
P35555:p.Val427Leu,benign
P35555:p.Val427Arg,benign
P35555:p.Pro428Gly,benign
P35555:p.Arg429Pro,benign
P35555:p.Pro431Val,benign
P35555:p.Val432Ala,benign
P35555:p.Val432Pro,benign
P35555:p.Glu433Asp,benign
P35555:p.Tyr434Val,benign
P35555:p.Leu435Asp,benign
P35555:p.Leu435Pro,benign
P35555:p.Tyr436Phe,benign
P35555:p.Arg439Gly,pathogenic
P35555:p.Glu440Asp,benign
P35555:p.Pro442Ala,benign
P35555:p.Pro442Ser,benign
P35555:p.Arg443Lys,benign
P35555:p.Arg443Leu,benign
P35555:p.Arg443Met,benign
P35555:p.Leu445Val,benign
P35555:p.Val447Phe,benign
P35555:p.Val449Ile,benign
P35555:p.Thr450Gly,benign
P35555:p.Leu455Ser,benign
P35555:p.Val456Phe,benign
P35555:p.Tyr458His,benign
P35555:p.Gln461His,benign
P35555:p.Cys472Tyr,benign
P35555:p.Cys476Gly,pathogenic
P35555:p.Lys478Gln,benign
P35555:p.Leu484Ile,benign
P35555:p.Gly486Glu,benign
P35555:p.Asp490Tyr,pathogenic
P35555:p.Val491Ile,benign
P35555:p.Lys496Arg,benign
P35555:p.Cys499Tyr,pathogenic
P35555:p.Ala500Met,benign
P35555:p.Ala500Thr,benign
P35555:p.Ala500Val,benign
P35555:p.Gly501Ser,benign
P35555:p.Glu503Asp,benign
P35555:p.Cys504Phe,pathogenic
P35555:p.Ile505Phe,benign
P35555:p.Ile505Leu,benign
P35555:p.Ile505Val,benign
P35555:p.Asn507Ser,benign
P35555:p.Asn507Thr,benign
P35555:p.Gln508Pro,benign
P35555:p.Thr512Ile,benign
P35555:p.Thr512Tyr,benign
P35555:p.Gln514His,benign
P35555:p.Ala517Pro,benign
P35555:p.Ala517Thr,benign
P35555:p.Ala517Val,benign
P35555:p.Leu523Val,benign
P35555:p.Ile531Val,benign
P35555:p.Cys541Tyr,pathogenic
P35555:p.Asn542Ser,benign
P35555:p.Arg545Cys,pathogenic
P35555:p.Asn548Ile,pathogenic
P35555:p.Ala559Val,benign
P35555:p.Gly560Ala,benign
P35555:p.Gly560Ser,pathogenic
P35555:p.Val563Ile,benign
P35555:p.Thr564Ser,benign
P35555:p.Arg565Leu,benign
P35555:p.Arg565Ser,benign
P35555:p.Asp566Glu,benign
P35555:p.Lys568Arg,benign
P35555:p.Cys570Tyr,pathogenic
P35555:p.Glu571Thr,benign
P35555:p.Met573Leu,benign
P35555:p.Ser577Asn,benign
P35555:p.Ser577Arg,benign
P35555:p.Ile578Thr,benign
P35555:p.Ile578Val,benign
P35555:p.Arg579Lys,benign
P35555:p.Arg579Pro,benign
P35555:p.Leu583Pro,benign
P35555:p.Cys587Tyr,pathogenic
P35555:p.Gly592Asp,pathogenic
P35555:p.Cys596Tyr,pathogenic
P35555:p.Cys598Trp,pathogenic
P35555:p.Tyr610Phe,benign
P35555:p.Cys611Arg,pathogenic
P35555:p.Cys617Gly,pathogenic
P35555:p.Pro620Leu,benign
P35555:p.Pro620Ser,benign
P35555:p.Arg627Cys,pathogenic
P35555:p.Cys628Lys,pathogenic
P35555:p.Tyr635Cys,pathogenic
P35555:p.Arg636Ile,pathogenic
P35555:p.Arg636Lys,benign
P35555:p.Gly646Asp,benign
P35555:p.Val651Trp,benign
P35555:p.Cys652Ser,pathogenic
P35555:p.Asp654Asn,pathogenic
P35555:p.Thr660Ser,benign
P35555:p.Cys661Arg,pathogenic
P35555:p.Cys661Tyr,pathogenic
P35555:p.Lys666Arg,benign
P35555:p.Ile671Val,benign
P35555:p.Ser681Tyr,pathogenic
P35555:p.Cys683Arg,pathogenic
P35555:p.Cys685Trp,pathogenic
P35555:p.Cys685Tyr,pathogenic
P35555:p.Ser687Asn,benign
P35555:p.Pro695Ala,benign
P35555:p.Ala701Ser,benign
P35555:p.Ala701Val,benign
P35555:p.Ala705Thr,pathogenic
P35555:p.Cys711Tyr,pathogenic
P35555:p.Met717Ile,benign
P35555:p.Ser722Thr,benign
P35555:p.Asp723Ala,pathogenic
P35555:p.Asp723Val,pathogenic
P35555:p.Cys734Phe,pathogenic
P35555:p.Ile738Ser,benign
P35555:p.Thr745Ser,benign
P35555:p.Tyr746Cys,pathogenic
P35555:p.Cys748Tyr,pathogenic
P35555:p.Ile749Val,benign
P35555:p.Cys750Gly,pathogenic
P35555:p.Asn751Asp,benign
P35555:p.Ser758Ala,benign
P35555:p.Ser758Ile,benign
P35555:p.Ser758Pro,benign
P35555:p.Thr759Ser,benign
P35555:p.Val764Ala,benign
P35555:p.Val764Ile,benign
P35555:p.Val770Ala,benign
P35555:p.Val770Ile,benign
P35555:p.Val770Leu,benign
P35555:p.Ser773Thr,benign
P35555:p.Cys776Gly,pathogenic
P35555:p.Cys776Tyr,pathogenic
P35555:p.Cys781Arg,pathogenic
P35555:p.Cys781Tyr,pathogenic
P35555:p.Cys790Tyr,pathogenic
P35555:p.Ile797Val,benign
P35555:p.Asp801Glu,benign
P35555:p.Cys811Tyr,pathogenic
P35555:p.Glu812Asp,benign
P35555:p.Ser814Asn,benign
P35555:p.Cys816Ser,pathogenic
P35555:p.Val820Ala,benign
P35555:p.Lys822Arg,benign
P35555:p.Ser824Asn,benign
P35555:p.Pro825Ala,benign
P35555:p.Pro825Gln,benign
P35555:p.Ile829Ser,benign
P35555:p.Cys832Tyr,pathogenic
P35555:p.Ser833Pro,benign
P35555:p.Ser833Thr,benign
P35555:p.Ser834Pro,benign
P35555:p.Thr837Ser,benign
P35555:p.Pro840Ala,benign
P35555:p.Pro840Gln,benign
P35555:p.Ile849Thr,benign
P35555:p.Lys850Arg,benign
P35555:p.Cys853Ser,pathogenic
P35555:p.Thr856Ile,benign
P35555:p.Val857Ala,benign
P35555:p.Val857Ile,benign
P35555:p.Asp859Asn,benign
P35555:p.Cys862Arg,pathogenic
P35555:p.Ile864Val,benign
P35555:p.Thr870Ile,benign
P35555:p.Gln874Glu,benign
P35555:p.Thr888Ser,benign
P35555:p.Leu889Ile,benign
P35555:p.Leu889Lys,benign
P35555:p.Leu889Pro,benign
P35555:p.Leu889Val,benign
P35555:p.Cys890Gly,pathogenic
P35555:p.Cys890Arg,pathogenic
P35555:p.Val892Ala,benign
P35555:p.Val892Leu,benign
P35555:p.Ile895Val,benign
P35555:p.Gly897Arg,benign
P35555:p.Gly897Ser,benign
P35555:p.Lys898Arg,benign
P35555:p.Tyr900Phe,benign
P35555:p.Lys904Arg,benign
P35555:p.Cys908Arg,pathogenic
P35555:p.Asp912Asn,benign
P35555:p.Glu913Gly,pathogenic
P35555:p.Glu915Gln,benign
P35555:p.Gly919Glu,benign
P35555:p.Cys921Gly,pathogenic
P35555:p.Lys922Arg,benign
P35555:p.Leu925Glu,benign
P35555:p.Leu925His,benign
P35555:p.Leu925Gln,benign
P35555:p.Leu925Val,benign
P35555:p.Cys926Arg,pathogenic
P35555:p.Cys926Tyr,pathogenic
P35555:p.Val927Ile,benign
P35555:p.Thr929Ile,benign
P35555:p.Thr929Ser,benign
P35555:p.Arg930Glu,benign
P35555:p.Arg930Lys,benign
P35555:p.Arg930Leu,benign
P35555:p.Arg930Met,benign
P35555:p.Arg930Gln,benign
P35555:p.Gln936Glu,benign
P35555:p.Gln936His,benign
P35555:p.Ser939Asn,benign
P35555:p.Ser939Thr,benign
P35555:p.Thr942Ser,benign
P35555:p.Ala945Asn,benign
P35555:p.Ala945Ser,benign
P35555:p.Ala945Thr,benign
P35555:p.Ala945Val,benign
P35555:p.Asp952Val,benign
P35555:p.Ile953Leu,benign
P35555:p.Arg954Ala,benign
P35555:p.Leu955Phe,benign
P35555:p.Leu955Met,benign
P35555:p.Leu955Thr,benign
P35555:p.Leu955Val,benign
P35555:p.Glu956Gln,benign
P35555:p.Phe959Tyr,benign
P35555:p.Leu960Met,benign
P35555:p.Arg961Gly,benign
P35555:p.Arg961Lys,benign
P35555:p.Arg961Met,benign
P35555:p.Arg961Ser,benign
P35555:p.Arg961Thr,benign
P35555:p.Glu963Asp,benign
P35555:p.Glu966Asp,benign
P35555:p.Thr968Ala,benign
P35555:p.Thr968Ser,benign
P35555:p.Thr968Val,benign
P35555:p.Leu969Met,benign
P35555:p.Leu969Val,benign
P35555:p.Pro970Met,benign
P35555:p.Ile971Met,benign
P35555:p.Ile971Val,benign
P35555:p.Ala972Pro,benign
P35555:p.Ala972Ser,benign
P35555:p.Ala972Thr,benign
P35555:p.Ala972Val,benign
P35555:p.Ala979Thr,benign
P35555:p.Ala979Val,benign
P35555:p.Cys982Ser,benign
P35555:p.Val984Ile,pathogenic
P35555:p.Gly985Glu,pathogenic
P35555:p.Gly985Arg,pathogenic
P35555:p.Ala987Gly,benign
P35555:p.Thr990Ser,benign
P35555:p.Glu991Asp,benign
P35555:p.Glu991Lys,benign
P35555:p.Glu991Gln,benign
P35555:p.Glu994Asp,benign
P35555:p.Cys996Arg,pathogenic
P35555:p.Met998Leu,benign
P35555:p.Met998Pro,benign
P35555:p.Met998Val,benign
P35555:p.Arg999Lys,benign
P35555:p.Asn1000Ser,benign
P35555:p.Thr1001Ser,benign
P35555:p.Pro1002Arg,benign
P35555:p.Glu1003Ala,benign
P35555:p.Glu1005Asp,benign
P35555:p.Arg1010Lys,benign
P35555:p.Pro1012Ser,benign
P35555:p.Gly1013Arg,pathogenic
P35555:p.Glu1018Asp,benign
P35555:p.Lys1023Asn,pathogenic
P35555:p.Pro1024Arg,benign
P35555:p.Phe1025Leu,benign
P35555:p.Lys1027Arg,benign
P35555:p.Ser1037Asn,benign
P35555:p.Ser1037Thr,benign
P35555:p.Lys1043Arg,pathogenic
P35555:p.Cys1044Tyr,pathogenic
P35555:p.Ile1048Thr,pathogenic
P35555:p.Cys1053Arg,pathogenic
P35555:p.Arg1054Lys,benign
P35555:p.Cys1055Gly,pathogenic
P35555:p.Cys1055Trp,pathogenic
P35555:p.Cys1055Tyr,pathogenic
P35555:p.Gly1058Asp,pathogenic
P35555:p.Ser1063Ala,benign
P35555:p.Cys1068Gly,pathogenic
P35555:p.Thr1069Ile,benign
P35555:p.Asp1072Gly,pathogenic
P35555:p.Glu1073Lys,pathogenic
P35555:p.Cys1074Arg,pathogenic
P35555:p.Cys1086Trp,pathogenic
P35555:p.Val1087Ile,benign
P35555:p.Pro1090Ser,pathogenic
P35555:p.Lys1096Arg,benign
P35555:p.Asp1098Glu,benign
P35555:p.Glu1099Lys,benign
P35555:p.Glu1099Val,benign
P35555:p.Tyr1101Cys,pathogenic
P35555:p.Asp1113Val,pathogenic
P35555:p.Cys1117Gly,pathogenic
P35555:p.Cys1117Tyr,pathogenic
P35555:p.Gln1118Leu,benign
P35555:p.Asp1120Asn,benign
P35555:p.Val1128Ala,benign
P35555:p.Val1128Asp,benign
P35555:p.Val1128Ile,benign
P35555:p.Val1128Thr,benign
P35555:p.Cys1129Tyr,pathogenic
P35555:p.His1130Phe,benign
P35555:p.His1130Ile,benign
P35555:p.His1130Leu,benign
P35555:p.Asn1131Tyr,pathogenic
P35555:p.Glu1133Asp,benign
P35555:p.Ser1135Thr,benign
P35555:p.Tyr1136Phe,benign
P35555:p.Arg1137Pro,pathogenic
P35555:p.Glu1139Asp,benign
P35555:p.Pro1142Ala,benign
P35555:p.Pro1142Gln,benign
P35555:p.Pro1142Ser,benign
P35555:p.Leu1146Met,benign
P35555:p.Ser1147Ala,benign
P35555:p.Pro1148Ala,benign
P35555:p.Ala1152Glu,benign
P35555:p.Cys1153Ser,pathogenic
P35555:p.Cys1153Tyr,pathogenic
P35555:p.Ile1154Thr,benign
P35555:p.Ile1154Val,benign
P35555:p.Asp1155Asn,pathogenic
P35555:p.Ile1156Val,benign
P35555:p.Glu1160Ala,benign
P35555:p.Ala1163Gly,benign
P35555:p.His1164Asn,benign
P35555:p.His1164Thr,benign
P35555:p.Asn1168His,benign
P35555:p.Asn1168Ser,benign
P35555:p.Arg1170His,pathogenic
P35555:p.Cys1171Trp,pathogenic
P35555:p.Asn1173Lys,pathogenic
P35555:p.Ile1175Met,benign
P35555:p.Ile1175Val,benign
P35555:p.Gln1179Glu,benign
P35555:p.Cys1180Arg,benign
P35555:p.Ala1181Thr,benign
P35555:p.Cys1182Arg,benign
P35555:p.Gly1185Asp,pathogenic
P35555:p.His1187Asn,benign
P35555:p.His1187Gln,benign
P35555:p.Ser1188Ala,benign
P35555:p.Ser1188Pro,benign
P35555:p.Thr1189Ser,benign
P35555:p.Pro1190His,benign
P35555:p.Glu1200Gly,pathogenic
P35555:p.Ser1202Asn,benign
P35555:p.Gly1207Asn,benign
P35555:p.Glu1216Asp,benign
P35555:p.Tyr1219Cys,pathogenic
P35555:p.Cys1223Tyr,pathogenic
P35555:p.Pro1225Gln,benign
P35555:p.Pro1225Ser,benign
P35555:p.Phe1227Tyr,benign
P35555:p.Asp1240Asn,benign
P35555:p.Glu1241Gln,benign
P35555:p.Cys1242Tyr,pathogenic
P35555:p.Asp1244Asn,benign
P35555:p.Asn1245Asp,benign
P35555:p.Cys1249Ser,pathogenic
P35555:p.Ile1257Val,benign
P35555:p.Tyr1261Cys,pathogenic
P35555:p.Tyr1261Asp,pathogenic
P35555:p.Cys1265Arg,pathogenic
P35555:p.Tyr1266Phe,benign
P35555:p.Cys1278Ser,pathogenic
P35555:p.Val1279Leu,benign
P35555:p.Asp1280Val,benign
P35555:p.Val1281Ala,benign
P35555:p.Val1281Ile,benign
P35555:p.Asn1282Ser,benign
P35555:p.Glu1283Phe,benign
P35555:p.Cys1284Gly,pathogenic
P35555:p.Cys1284Tyr,pathogenic
P35555:p.Asn1287Ile,benign
P35555:p.Pro1288Leu,benign
P35555:p.Asn1289Lys,benign
P35555:p.Ile1290Cys,benign
P35555:p.Ser1293Ile,benign
P35555:p.Thr1295Ser,benign
P35555:p.Thr1295Val,benign
P35555:p.Glu1297Asn,benign
P35555:p.Asn1298Leu,benign
P35555:p.Gly1301Ser,benign
P35555:p.Phe1303Trp,benign
P35555:p.Ile1304Ala,benign
P35555:p.His1306Ser,benign
P35555:p.Asp1308Glu,benign
P35555:p.Met1309Leu,benign
P35555:p.Met1309Val,benign
P35555:p.Met1309Trp,benign
P35555:p.Gly1310Arg,benign
P35555:p.Tyr1311Lys,benign
P35555:p.Ser1312Ala,benign
P35555:p.Ser1312Glu,benign
P35555:p.Gly1313Asn,benign
P35555:p.Gly1313Ser,benign
P35555:p.Gly1316Lys,benign
P35555:p.Thr1318Lys,benign
P35555:p.Gly1319Lys,benign
P35555:p.Cys1320Asp,benign
P35555:p.Thr1321Lys,benign
P35555:p.Asp1322His,benign
P35555:p.Glu1325Gln,pathogenic
P35555:p.Cys1333Ser,pathogenic
P35555:p.Gly1334Asp,benign
P35555:p.Gly1334His,benign
P35555:p.Lys1335Arg,benign
P35555:p.Ala1337Pro,pathogenic
P35555:p.Val1338Ile,benign
P35555:p.Val1338Met,benign
P35555:p.Cys1339Tyr,pathogenic
P35555:p.Thr1340Ala,benign
P35555:p.Lys1347Asn,benign
P35555:p.Lys1347Arg,benign
P35555:p.Cys1350Phe,pathogenic
P35555:p.Pro1352Ala,benign
P35555:p.Ile1355Val,benign
P35555:p.Ile1359Val,benign
P35555:p.Thr1362Ser,benign
P35555:p.Glu1366Lys,pathogenic
P35555:p.Met1373Leu,benign
P35555:p.Met1373Val,benign
P35555:p.Cys1374Ser,pathogenic
P35555:p.Lys1381Arg,benign
P35555:p.Asn1382Ser,pathogenic
P35555:p.Met1384Leu,benign
P35555:p.Cys1389Arg,pathogenic
P35555:p.Glu1393Asp,benign
P35555:p.Phe1400Ile,benign
P35555:p.Thr1401Ala,pathogenic
P35555:p.Thr1401Ser,benign
P35555:p.Cys1402Arg,pathogenic
P35555:p.Thr1403Ala,benign
P35555:p.Thr1403Ile,benign
P35555:p.Asp1404Tyr,pathogenic
P35555:p.Leu1405Ile,benign
P35555:p.Ser1409Leu,benign
P35555:p.Leu1412Val,benign
P35555:p.Asn1413Lys,benign
P35555:p.Cys1415Ser,benign
P35555:p.Gly1418Val,benign
P35555:p.Asn1422Tyr,benign
P35555:p.Ala1423Val,benign
P35555:p.Pro1424Ala,pathogenic
P35555:p.Pro1424Ser,pathogenic
P35555:p.Gly1425Ala,benign
P35555:p.Arg1428His,benign
P35555:p.Cys1429Ser,pathogenic
P35555:p.Cys1431Trp,pathogenic
P35555:p.Cys1431Tyr,pathogenic
P35555:p.Ala1439Ser,benign
P35555:p.Ala1439Val,benign
P35555:p.Gly1441Arg,benign
P35555:p.Ala1443Ser,benign
P35555:p.Glu1445Asp,benign
P35555:p.Glu1445Val,benign
P35555:p.Ile1447Ser,benign
P35555:p.Asp1448Asn,benign
P35555:p.Ser1451Ala,benign
P35555:p.Ser1451Gly,benign
P35555:p.Asn1454Ser,benign
P35555:p.Cys1456Phe,benign
P35555:p.Val1457Phe,benign
P35555:p.Thr1460Ser,benign
P35555:p.His1462Arg,benign
P35555:p.Arg1469Ser,benign
P35555:p.Glu1471Gln,benign
P35555:p.Glu1473Asp,benign
P35555:p.Ile1474Ala,benign
P35555:p.Ile1474Thr,benign
P35555:p.Ile1474Val,benign
P35555:p.Gly1475Glu,pathogenic
P35555:p.Gly1475Ser,pathogenic
P35555:p.Asp1487Ala,pathogenic
P35555:p.Val1488Ile,benign
P35555:p.Asn1489Lys,pathogenic
P35555:p.Asp1493Glu,benign
P35555:p.Thr1495Pro,benign
P35555:p.Val1503Ile,benign
P35555:p.Thr1505Ser,benign
P35555:p.Ile1510Thr,benign
P35555:p.Asp1512Val,benign
P35555:p.Cys1513Arg,pathogenic
P35555:p.Pro1514Ser,benign
P35555:p.Asp1516Glu,benign
P35555:p.Arg1523Gly,benign
P35555:p.Asp1537Asn,benign
P35555:p.Ile1538Phe,benign
P35555:p.Ile1538Thr,benign
P35555:p.Ile1538Val,benign
P35555:p.Ala1548Phe,benign
P35555:p.Ala1548Ser,benign
P35555:p.Ala1548Tyr,benign
P35555:p.Ser1550Arg,benign
P35555:p.Cys1564Phe,pathogenic
P35555:p.Cys1564Ser,pathogenic
P35555:p.Cys1564Tyr,pathogenic
P35555:p.Lys1568Arg,benign
P35555:p.Trp1570Cys,pathogenic
P35555:p.Met1576Leu,benign
P35555:p.Met1576Gln,benign
P35555:p.Met1576Thr,pathogenic
P35555:p.Met1576Val,benign
P35555:p.Cys1577Gly,pathogenic
P35555:p.Ala1579Leu,benign
P35555:p.Ala1579Pro,benign
P35555:p.Ala1579Ser,benign
P35555:p.Ser1583Thr,benign
P35555:p.Glu1584Asp,benign
P35555:p.Cys1589Phe,pathogenic
P35555:p.Gly1594Asp,pathogenic
P35555:p.Cys1610Gly,pathogenic
P35555:p.Lys1621Arg,benign
P35555:p.Cys1631Gly,pathogenic
P35555:p.Arg1632His,benign
P35555:p.Thr1635Ser,benign
P35555:p.Tyr1638Phe,benign
P35555:p.Asn1640Lys,benign
P35555:p.Thr1643Ser,benign
P35555:p.Glu1653Asp,benign
P35555:p.Cys1663Arg,pathogenic
P35555:p.Cys1663Tyr,pathogenic
P35555:p.Thr1666Ser,benign
P35555:p.Val1667Asn,benign
P35555:p.Leu1694Ile,benign
P35555:p.Tyr1696Cys,pathogenic
P35555:p.Tyr1699Cys,pathogenic
P35555:p.Tyr1699Asp,pathogenic
P35555:p.Tyr1700Cys,pathogenic
P35555:p.Tyr1700His,benign
P35555:p.Ala1701Pro,benign
P35555:p.Cys1706Tyr,pathogenic
P35555:p.Met1714Arg,pathogenic
P35555:p.Cys1719Trp,pathogenic
P35555:p.Ser1722Cys,pathogenic
P35555:p.Gly1726Arg,benign
P35555:p.Gly1726Val,pathogenic
P35555:p.Ala1728Thr,pathogenic
P35555:p.Ala1728Val,pathogenic
P35555:p.Cys1733Tyr,pathogenic
P35555:p.Ile1738Val,benign
P35555:p.Thr1746Asn,benign
P35555:p.Ser1750Arg,pathogenic
P35555:p.Asp1758Val,pathogenic
P35555:p.Gly1762Ser,pathogenic
P35555:p.Cys1770Phe,pathogenic
P35555:p.Pro1774Leu,benign
P35555:p.Arg1790Pro,pathogenic
P35555:p.Cys1791Arg,pathogenic
P35555:p.Cys1791Tyr,pathogenic
P35555:p.Cys1793Trp,pathogenic
P35555:p.Gly1796Glu,pathogenic
P35555:p.Cys1806Ser,pathogenic
P35555:p.Cys1806Tyr,pathogenic
P35555:p.Val1817Leu,benign
P35555:p.Cys1818Phe,benign
P35555:p.Gln1819His,benign
P35555:p.Gln1819Leu,benign
P35555:p.Asn1821Pro,benign
P35555:p.Ile1825Thr,benign
P35555:p.Ile1825Val,benign
P35555:p.Ala1828Pro,benign
P35555:p.Tyr1831Phe,benign
P35555:p.Cys1833Ser,pathogenic
P35555:p.Asp1834Glu,benign
P35555:p.Cys1835Tyr,pathogenic
P35555:p.Lys1836Val,benign
P35555:p.Pro1837Gln,benign
P35555:p.Pro1837Ser,pathogenic
P35555:p.Gly1838Cys,pathogenic
P35555:p.Gly1838Arg,benign
P35555:p.Arg1840Phe,benign
P35555:p.Phe1841Leu,benign
P35555:p.Thr1842Leu,benign
P35555:p.Thr1842Ser,benign
P35555:p.Gly1845Arg,benign
P35555:p.Asn1848Cys,benign
P35555:p.Asn1848Thr,benign
P35555:p.Asp1849Gly,benign
P35555:p.Asp1849Tyr,benign
P35555:p.Arg1850Ser,benign
P35555:p.Asn1851Ser,benign
P35555:p.Glu1852Pro,benign
P35555:p.Cys1853Arg,benign
P35555:p.Gln1854Ala,benign
P35555:p.Glu1855Ala,benign
P35555:p.Ile1856Arg,benign
P35555:p.Asn1858Asp,benign
P35555:p.Ile1859Ala,benign
P35555:p.Ile1859Val,benign
P35555:p.Cys1860Gly,benign
P35555:p.Ser1861Ala,benign
P35555:p.Gln1864Pro,benign
P35555:p.Cys1865Asp,benign
P35555:p.Cys1865Val,benign
P35555:p.Ile1866Thr,benign
P35555:p.Thr1868Ile,benign
P35555:p.Val1869Gly,benign
P35555:p.Val1869Ile,benign
P35555:p.Val1869Pro,benign
P35555:p.Phe1872Leu,benign
P35555:p.Tyr1873Ala,benign
P35555:p.Cys1874Ala,benign
P35555:p.Leu1875Ile,benign
P35555:p.Cys1876Pro,benign
P35555:p.Cys1876Tyr,pathogenic
P35555:p.His1877Pro,benign
P35555:p.Thr1878Ala,benign
P35555:p.Gly1879Pro,benign
P35555:p.Phe1880Leu,benign
P35555:p.Lys1881Arg,benign
P35555:p.Thr1882Ala,benign
P35555:p.Asn1883Val,benign
P35555:p.Asp1884Ala,benign
P35555:p.Asp1884Glu,benign
P35555:p.Asp1884Ile,benign
P35555:p.Asp1884Pro,benign
P35555:p.Asp1884Arg,benign
P35555:p.Asp1884Val,benign
P35555:p.Asp1885Glu,benign
P35555:p.Gln1886Arg,benign
P35555:p.Thr1887Ile,pathogenic
P35555:p.Thr1887Ser,benign
P35555:p.Met1888Gly,benign
P35555:p.Cys1889Val,benign
P35555:p.Leu1890Tyr,benign
P35555:p.Asp1891His,benign
P35555:p.Asn1893Lys,pathogenic
P35555:p.Cys1895Arg,pathogenic
P35555:p.Arg1897Lys,benign
P35555:p.Cys1900Tyr,pathogenic
P35555:p.Ile1909Thr,pathogenic
P35555:p.Ile1909Val,benign
P35555:p.Arg1915Ser,pathogenic
P35555:p.Asn1917Asp,benign
P35555:p.Ile1921Met,benign
P35555:p.Cys1928Gly,pathogenic
P35555:p.Cys1928Arg,pathogenic
P35555:p.Cys1928Tyr,pathogenic
P35555:p.Asp1930Gly,benign
P35555:p.Val1931Ala,benign
P35555:p.Asp1932Phe,benign
P35555:p.Glu1933Ala,benign
P35555:p.Cys1934Gln,benign
P35555:p.Cys1934Ser,pathogenic
P35555:p.Ala1935Glu,benign
P35555:p.Ser1936Thr,benign
P35555:p.Gly1937Pro,benign
P35555:p.Asn1938Thr,benign
P35555:p.Asn1940Phe,benign
P35555:p.Leu1941Met,benign
P35555:p.Arg1943Phe,benign
P35555:p.Asn1944Phe,benign
P35555:p.Gly1945Asp,benign
P35555:p.Gln1946Leu,benign
P35555:p.Cys1947Ile,benign
P35555:p.Ile1948Leu,benign
P35555:p.Ile1948Val,benign
P35555:p.Asn1949Gly,benign
P35555:p.Thr1950Phe,benign
P35555:p.Thr1950Leu,benign
P35555:p.Thr1950Val,benign
P35555:p.Gly1952Phe,benign
P35555:p.Ser1953His,benign
P35555:p.Ser1953Thr,benign
P35555:p.Gln1955Asn,benign
P35555:p.Gln1955Arg,benign
P35555:p.Gln1957Glu,benign
P35555:p.Gln1957Arg,benign
P35555:p.Gln1957Ser,benign
P35555:p.Cys1958Ile,benign
P35555:p.Glu1960Asp,benign
P35555:p.Glu1960Gly,benign
P35555:p.Gly1961Ile,benign
P35555:p.Tyr1962Met,benign
P35555:p.Glu1963Ser,benign
P35555:p.Val1964Ala,benign
P35555:p.Val1964Ile,benign
P35555:p.Val1964Leu,benign
P35555:p.Ala1965Gln,benign
P35555:p.Ala1965Val,benign
P35555:p.Pro1966Ala,benign
P35555:p.Asp1967Ser,benign
P35555:p.Gly1968Leu,benign
P35555:p.Arg1969Phe,benign
P35555:p.Thr1970Ser,benign
P35555:p.Cys1971Tyr,pathogenic
P35555:p.Val1972Ala,benign
P35555:p.Glu1976Gly,pathogenic
P35555:p.Cys1977Tyr,pathogenic
P35555:p.Leu1978Ala,benign
P35555:p.Leu1978Val,benign
P35555:p.Glu1980Asp,benign
P35555:p.Arg1982Gly,benign
P35555:p.Arg1982Lys,benign
P35555:p.Cys1984Arg,pathogenic
P35555:p.Tyr1996Phe,benign
P35555:p.Cys1998Tyr,pathogenic
P35555:p.Gln2007His,benign
P35555:p.Asn2008Asp,benign
P35555:p.Asn2008His,benign
P35555:p.Asn2008Gln,benign
P35555:p.Asn2008Thr,benign
P35555:p.Glu2009Asp,benign
P35555:p.Glu2009Asn,benign
P35555:p.Lys2037Arg,benign
P35555:p.Cys2038Tyr,pathogenic
P35555:p.Glu2042Asp,benign
P35555:p.Leu2046Trp,benign
P35555:p.Ser2049Thr,benign
P35555:p.Arg2057Leu,benign
P35555:p.Met2058Thr,benign
P35555:p.Ala2063Val,benign
P35555:p.Lys2074Gln,benign
P35555:p.Lys2074Arg,benign
P35555:p.Arg2076Lys,benign
P35555:p.Asn2077Lys,benign
P35555:p.His2078Ser,benign
P35555:p.Ser2079Leu,benign
P35555:p.Lys2080Gln,benign
P35555:p.Gln2081His,benign
P35555:p.Gln2081Thr,benign
P35555:p.Glu2082Leu,benign
P35555:p.Glu2082Pro,benign
P35555:p.Cys2083Met,benign
P35555:p.Cys2084Leu,benign
P35555:p.Cys2085Arg,pathogenic
P35555:p.Cys2099Trp,pathogenic
P35555:p.Thr2101Met,benign
P35555:p.Cys2111Arg,pathogenic
P35555:p.Cys2111Tyr,pathogenic
P35555:p.Tyr2113Phe,benign
P35555:p.Gly2120Ala,benign
P35555:p.Pro2121Ile,benign
P35555:p.Pro2121Leu,benign
P35555:p.Ser2124Thr,benign
P35555:p.Asp2127Glu,pathogenic
P35555:p.Lys2132Gly,benign
P35555:p.Val2136Ile,benign
P35555:p.Lys2138Arg,benign
P35555:p.His2139Asn,benign
P35555:p.Cys2142Tyr,pathogenic
P35555:p.Asn2144Ser,pathogenic
P35555:p.Cys2151Trp,pathogenic
P35555:p.Pro2154Arg,pathogenic
P35555:p.Tyr2157Phe,benign
P35555:p.Ala2160Glu,benign
P35555:p.Ala2160Pro,pathogenic
P35555:p.Ala2160Gln,benign
P35555:p.Asp2166Asn,pathogenic
P35555:p.Thr2167Ile,benign
P35555:p.Ser2171Ala,benign
P35555:p.Val2172Leu,benign
P35555:p.Asn2178Asp,benign
P35555:p.Ile2185Thr,pathogenic
P35555:p.Ile2207Val,benign
P35555:p.Pro2214Ala,benign
P35555:p.Cys2221Phe,pathogenic
P35555:p.Cys2221Gly,pathogenic
P35555:p.Cys2221Ser,pathogenic
P35555:p.Asn2223His,pathogenic
P35555:p.Val2234Ala,benign
P35555:p.Val2234Thr,benign
P35555:p.Val2237Ile,benign
P35555:p.Arg2242Lys,benign
P35555:p.Lys2246Arg,benign
P35555:p.Asp2247Gly,pathogenic
P35555:p.Glu2248Leu,benign
P35555:p.Cys2251Arg,pathogenic
P35555:p.Glu2252Ala,benign
P35555:p.Glu2252Gln,benign
P35555:p.Glu2253Ala,benign
P35555:p.Glu2253Asn,benign
P35555:p.Glu2253Thr,benign
P35555:p.Gly2254Leu,benign
P35555:p.Lys2255Asn,benign
P35555:p.Lys2255Thr,benign
P35555:p.His2256Asp,benign
P35555:p.Cys2258Arg,pathogenic
P35555:p.Thr2259Ala,benign
P35555:p.Glu2260Gly,benign
P35555:p.Gln2262Leu,benign
P35555:p.Glu2264Gln,benign
P35555:p.Ile2269Thr,pathogenic
P35555:p.Thr2271Leu,benign
P35555:p.Thr2271Met,benign
P35555:p.Met2273Ile,benign
P35555:p.Met2273Leu,benign
P35555:p.Gly2277Ser,benign
P35555:p.Gly2277Thr,benign
P35555:p.Pro2278Ala,benign
P35555:p.Pro2278Ser,benign
P35555:p.Tyr2280Phe,benign
P35555:p.Arg2282Gln,benign
P35555:p.Arg2282Trp,pathogenic
P35555:p.Arg2283Thr,benign
P35555:p.Gly2288Ala,benign
P35555:p.Gly2288Ser,benign
P35555:p.Val2290Ile,benign
P35555:p.Val2290Met,benign
P35555:p.Lys2298Arg,benign
P35555:p.Cys2307Ser,pathogenic
P35555:p.Leu2308Ile,benign
P35555:p.Thr2310Ala,benign
P35555:p.Arg2311Leu,benign
P35555:p.Arg2311Pro,benign
P35555:p.Arg2311Val,benign
P35555:p.Tyr2314Phe,benign
P35555:p.Thr2315Ala,benign
P35555:p.Thr2315Ile,benign
P35555:p.Cys2318Arg,pathogenic
P35555:p.Asn2319Ser,benign
P35555:p.Asp2320Ala,benign
P35555:p.Ala2324Pro,benign
P35555:p.Asn2327Ala,benign
P35555:p.Asn2327Glu,benign
P35555:p.Asn2327Thr,benign
P35555:p.Asp2329Asn,benign
P35555:p.Glu2330Lys,benign
P35555:p.Asn2334Ser,benign
P35555:p.Arg2335Trp,pathogenic
P35555:p.Glu2336Gln,benign
P35555:p.Glu2336Val,benign
P35555:p.Cys2339Tyr,pathogenic
P35555:p.Thr2341Ser,benign
P35555:p.Leu2344Phe,benign
P35555:p.Gln2345Glu,benign
P35555:p.Met2347Leu,benign
P35555:p.Asp2366Val,benign
P35555:p.Gly2372Ser,benign
P35555:p.Pro2373Leu,benign
P35555:p.Pro2373Ser,benign
P35555:p.Pro2373Thr,benign
P35555:p.His2374Phe,benign
P35555:p.His2374Gln,benign
P35555:p.Gln2381Glu,benign
P35555:p.Gly2382Ala,benign
P35555:p.Ala2385Thr,pathogenic
P35555:p.Phe2386Tyr,benign
P35555:p.His2392Leu,benign
P35555:p.Asn2399Ser,benign
P35555:p.Ala2401Thr,benign
P35555:p.Ile2403Val,benign
P35555:p.Cys2406Tyr,pathogenic
P35555:p.Lys2407Arg,benign
P35555:p.Val2412Asp,benign
P35555:p.Arg2414Lys,benign
P35555:p.Arg2414Gln,benign
P35555:p.Asn2415His,benign
P35555:p.Val2419Ile,benign
P35555:p.Arg2422Gln,benign
P35555:p.Ser2424Leu,benign
P35555:p.Tyr2425Phe,benign
P35555:p.Ile2428Leu,benign
P35555:p.Ile2428Asn,benign
P35555:p.Ile2428Thr,benign
P35555:p.Thr2431Ala,benign
P35555:p.Thr2431Asn,benign
P35555:p.Pro2435Thr,benign
P35555:p.Ile2437Leu,benign
P35555:p.Thr2438Ala,benign
P35555:p.Thr2440Ala,benign
P35555:p.Ser2441Ala,benign
P35555:p.Cys2442Ser,pathogenic
P35555:p.Cys2442Trp,pathogenic
P35555:p.Val2443Ile,benign
P35555:p.Asn2446Asp,benign
P35555:p.Glu2447Lys,pathogenic
P35555:p.Asn2449Asp,benign
P35555:p.Asn2449Ser,benign
P35555:p.Lys2453Asn,benign
P35555:p.Thr2462Ile,benign
P35555:p.Glu2463Gln,benign
P35555:p.Tyr2466Phe,benign
P35555:p.Ser2469Ala,benign
P35555:p.Lys2472Asn,benign
P35555:p.Tyr2474Cys,pathogenic
P35555:p.Gln2477Leu,benign
P35555:p.Glu2478Asp,benign
P35555:p.Leu2486Phe,benign
P35555:p.Cys2489Arg,pathogenic
P35555:p.Ala2490Ser,benign
P35555:p.Lys2492Met,benign
P35555:p.Cys2500Arg,pathogenic
P35555:p.Cys2500Tyr,pathogenic
P35555:p.Gly2506Ser,benign
P35555:p.Thr2508Ala,benign
P35555:p.Cys2511Arg,pathogenic
P35555:p.Ser2521Ala,benign
P35555:p.Ser2530Thr,benign
P35555:p.Asp2531Glu,benign
P35555:p.Ile2532Val,benign
P35555:p.Asn2533Ser,benign
P35555:p.Cys2535Trp,pathogenic
P35555:p.Gly2536Arg,pathogenic
P35555:p.Ser2537Ala,benign
P35555:p.Lys2538Arg,benign
P35555:p.Ile2540Val,benign
P35555:p.Thr2549Ile,benign
P35555:p.Gln2560His,benign
P35555:p.Gln2560Pro,benign
P35555:p.Thr2561Ser,benign
P35555:p.Ser2563Ala,benign
P35555:p.Ser2564Thr,benign
P35555:p.Glu2570Lys,pathogenic
P35555:p.Cys2571Arg,pathogenic
P35555:p.Cys2581Phe,pathogenic
P35555:p.Ile2585Thr,pathogenic
P35555:p.Cys2592Ser,pathogenic
P35555:p.Cys2605Arg,pathogenic
P35555:p.Cys2605Tyr,pathogenic
P35555:p.Val2606Ile,benign
P35555:p.Val2606Pro,benign
P35555:p.Asp2607Asn,benign
P35555:p.Asp2607Tyr,benign
P35555:p.Ser2613Asn,benign
P35555:p.Ile2616Val,benign
P35555:p.Gly2618Arg,pathogenic
P35555:p.Ser2621Ala,benign
P35555:p.His2623Pro,pathogenic
P35555:p.Asn2624Lys,pathogenic
P35555:p.Gly2627Arg,pathogenic
P35555:p.Tyr2629Cys,pathogenic
P35555:p.Met2632Thr,benign
P35555:p.Ala2635Thr,benign
P35555:p.Gln2638His,benign
P35555:p.Gln2638Arg,benign
P35555:p.Tyr2639Phe,benign
P35555:p.Cys2646Arg,pathogenic
P35555:p.Cys2652Gly,pathogenic
P35555:p.Ala2655Pro,benign
P35555:p.Ala2655Ser,benign
P35555:p.Ser2660Thr,benign
P35555:p.Cys2663Ser,pathogenic
P35555:p.Gly2668Cys,pathogenic
P35555:p.Gly2669Glu,benign
P35555:p.Gly2669Val,benign
P35555:p.Tyr2670Gly,benign
P35555:p.Leu2671Val,benign
P35555:p.Gly2673Ala,benign
P35555:p.Gly2673Ser,benign
P35555:p.Cys2674Ala,benign
P35555:p.Cys2674His,benign
P35555:p.Pro2675Met,benign
P35555:p.Pro2675Thr,benign
P35555:p.Pro2676Ser,benign
P35555:p.Gly2677Leu,benign
P35555:p.Gly2677Ser,benign
P35555:p.Tyr2678Phe,benign
P35555:p.Tyr2678His,benign
P35555:p.Phe2679Leu,benign
P35555:p.Phe2679Tyr,benign
P35555:p.Arg2680Cys,pathogenic
P35555:p.Arg2680Glu,benign
P35555:p.Ile2681Arg,benign
P35555:p.Gln2683Ala,benign
P35555:p.Gln2683His,benign
P35555:p.Gly2684Arg,benign
P35555:p.Gly2684Trp,benign
P35555:p.Val2687Leu,benign
P35555:p.Met2690Ile,benign
P35555:p.Gly2691Ser,benign
P35555:p.Gly2693Ala,benign
P35555:p.Gly2693Ser,benign
P35555:p.Asn2696Ala,benign
P35555:p.Asn2696Gly,benign
P35555:p.Asn2696Ser,benign
P35555:p.Pro2697Gln,benign
P35555:p.Pro2697Ser,benign
P35555:p.Pro2697Thr,benign
P35555:p.Glu2698Asp,benign
P35555:p.Pro2699Ser,benign
P35555:p.Pro2700Ser,benign
P35555:p.Val2701Ala,benign
P35555:p.Val2701Ser,benign
P35555:p.Gly2703Ser,benign
P35555:p.Pro2724Ser,benign
P35555:p.Arg2726Trp,pathogenic
P35555:p.Lys2729Arg,benign
P35555:p.Thr2733Ala,benign
P35555:p.Glu2735Ala,benign
P35555:p.Glu2735Gly,benign
P35555:p.Thr2736Ala,benign
P35555:p.Asp2737Glu,benign
P35555:p.Asp2737Lys,benign
P35555:p.Asp2737Asn,benign
P35555:p.Ala2738Glu,benign
P35555:p.Ala2738Thr,benign
P35555:p.Ala2738Val,benign
P35555:p.Ser2739Ala,benign
P35555:p.Ser2739Phe,benign
P35555:p.Ser2739Leu,benign
P35555:p.Ser2739Thr,benign
P35555:p.Asn2740Ala,benign
P35555:p.Asn2740Asp,benign
P35555:p.Asn2740Glu,benign
P35555:p.Asn2740Gly,benign
P35555:p.Asn2740His,benign
P35555:p.Asn2740Lys,benign
P35555:p.Asn2740Ser,benign
P35555:p.Asn2740Thr,benign
P35555:p.Asn2740Val,benign
P35555:p.Ile2741Leu,benign
P35555:p.Ile2741Thr,benign
P35555:p.Ile2741Val,benign
P35555:p.Glu2742Lys,benign
P35555:p.Glu2742Gln,benign
P35555:p.Asp2743Glu,benign
P35555:p.Asp2743Gly,benign
P35555:p.Asp2743His,benign
P35555:p.Asp2743Asn,benign
P35555:p.Gln2744Ala,benign
P35555:p.Gln2744Asp,benign
P35555:p.Gln2744Gly,benign
P35555:p.Gln2744Pro,benign
P35555:p.Gln2744Arg,benign
P35555:p.Gln2744Val,benign
P35555:p.Ser2745Ala,benign
P35555:p.Ser2745Leu,benign
P35555:p.Ser2745Pro,benign
P35555:p.Glu2746Gly,benign
P35555:p.Glu2746Lys,benign
P35555:p.Thr2747Ile,benign
P35555:p.Thr2747Lys,benign
P35555:p.Thr2747Met,benign
P35555:p.Thr2747Pro,benign
P35555:p.Thr2747Gln,benign
P35555:p.Thr2747Arg,benign
P35555:p.Glu2748Asp,benign
P35555:p.Glu2748Lys,benign
P35555:p.Glu2748Val,benign
P35555:p.Ala2749Gln,benign
P35555:p.Ala2749Ser,benign
P35555:p.Ala2749Thr,benign
P35555:p.Asn2750Ser,benign
P35555:p.Val2751Met,benign
P35555:p.Ala2754Glu,benign
P35555:p.Val2758Ala,benign
P35555:p.Val2758Glu,benign
P35555:p.Val2758Ile,benign
P35555:p.Val2758Thr,benign
P35555:p.Thr2761Ile,benign
P35555:p.Thr2761Met,benign
P35555:p.Thr2761Pro,benign
P35555:p.Ile2763Phe,benign
P35555:p.Ile2763Met,benign
P35555:p.Ile2763Ser,benign
P35555:p.Ile2763Thr,benign
P35555:p.Ile2763Val,benign
P35555:p.Ala2765Asp,benign
P35555:p.Ile2768Val,benign
P35555:p.His2770Leu,benign
P35555:p.His2770Gln,benign
P35555:p.His2770Arg,benign
P35555:p.Val2771Ile,benign
P35555:p.Ser2772Asn,benign
P35555:p.Ser2772Thr,benign
P35555:p.Asn2773His,benign
P35555:p.Asn2773Lys,benign
P35555:p.Thr2785Ala,benign
P35555:p.Thr2788Ala,benign
P35555:p.Thr2788Met,benign
P35555:p.Thr2788Val,benign
P35555:p.Asn2789Asp,benign
P35555:p.Arg2792Lys,benign
P35555:p.Glu2796Asp,benign
P35555:p.Glu2796Lys,benign
P35555:p.Ser2797His,benign
P35555:p.Asn2799Ala,benign
P35555:p.Glu2800Asp,benign
P35555:p.Glu2800Gln,benign
P35555:p.Asp2801Ala,benign
P35555:p.Asp2801Glu,benign
P35555:p.Asp2801Asn,benign
P35555:p.Asp2801Tyr,benign
P35555:p.Gly2802Ala,benign
P35555:p.Phe2803Leu,benign
P35555:p.Phe2803Trp,benign
P35555:p.Lys2805Arg,benign
P35555:p.Lys2805Ser,benign
P35555:p.Ile2806Leu,benign
P35555:p.Gln2808Lys,benign
P35555:p.Ile2812Val,benign
P35555:p.Lys2821Asn,benign
P35555:p.Lys2821Arg,benign
P35555:p.Pro2822Ala,benign
P35555:p.Val2823Thr,benign
P35555:p.Ala2824Val,benign
P35555:p.Gly2825Ala,benign
P35555:p.Thr2826Ala,benign
P35555:p.Thr2826Ser,benign
P35555:p.Tyr2827Phe,benign
P35555:p.Gln2830His,benign
P35555:p.Thr2834Ala,benign
P35555:p.Thr2834Ser,benign
P35555:p.Thr2834Val,benign
P35555:p.Lys2838Arg,benign
P35555:p.Lys2839Glu,benign
P35555:p.Lys2839Gln,benign
P35555:p.Lys2839Arg,benign
P35555:p.Lys2839Thr,benign
P35555:p.Lys2840Gln,benign
P35555:p.Lys2840Arg,benign
P35555:p.Leu2842Arg,benign
P35555:p.Asn2843Asp,benign
P35555:p.Asn2843Ser,benign
P35555:p.Gln2844Leu,benign
P35555:p.Glu2846Gln,benign
P35555:p.Lys2848Asn,benign
P35555:p.Lys2848Arg,benign
P35555:p.Lys2848Ser,benign
P35555:p.Lys2848Thr,benign
P35555:p.Tyr2849Phe,benign
P35555:p.Tyr2849His,benign
P35555:p.Lys2851Arg,benign
P35555:p.Asn2861Lys,benign
P35555:p.Lys2865Arg,benign
P35555:p.Val2868Ile,benign
P04839:p.Ile15Met,benign
P04839:p.Trp18Cys,pathogenic
P04839:p.Gly20Arg,pathogenic
P04839:p.Leu21Met,benign
P04839:p.Asp34Ala,benign
P04839:p.Ile35Val,benign
P04839:p.Pro37Glu,benign
P04839:p.Pro37Val,benign
P04839:p.Lys38Thr,benign
P04839:p.Tyr41Asp,pathogenic
P04839:p.Arg54Met,pathogenic
P04839:p.Arg54Ser,pathogenic
P04839:p.Ala55Asp,pathogenic
P04839:p.Ala57Glu,pathogenic
P04839:p.Cys59Arg,pathogenic
P04839:p.Cys59Trp,pathogenic
P04839:p.Ala84Glu,benign
P04839:p.Cys85Phe,benign
P04839:p.Val90Ile,benign
P04839:p.His101Arg,pathogenic
P04839:p.His101Tyr,pathogenic
P04839:p.Ser112Thr,benign
P04839:p.His119Arg,pathogenic
P04839:p.Asn132Gly,benign
P04839:p.Pro136Ala,benign
P04839:p.Pro136Arg,benign
P04839:p.Val139Ile,benign
P04839:p.Ala140Lys,benign
P04839:p.Glu143Ala,benign
P04839:p.Glu143Asp,benign
P04839:p.Glu143Gln,benign
P04839:p.Leu144Ile,benign
P04839:p.Arg147Gly,benign
P04839:p.Arg147Lys,benign
P04839:p.Gln148Lys,benign
P04839:p.Gln148Pro,benign
P04839:p.Asn149Gly,benign
P04839:p.Ser151Thr,benign
P04839:p.Ala156Thr,pathogenic
P04839:p.Lys158Asp,benign
P04839:p.Lys158Glu,benign
P04839:p.Arg159Lys,benign
P04839:p.Leu169Val,benign
P04839:p.Leu173Arg,benign
P04839:p.Leu174Val,benign
P04839:p.Thr178Pro,pathogenic
P04839:p.Gly179Arg,pathogenic
P04839:p.Val180Ile,benign
P04839:p.Ser193Phe,pathogenic
P04839:p.Phe202Tyr,benign
P04839:p.Phe205Ile,pathogenic
P04839:p.His209Gln,pathogenic
P04839:p.His209Arg,pathogenic
P04839:p.His209Tyr,pathogenic
P04839:p.His222Asn,pathogenic
P04839:p.His222Arg,pathogenic
P04839:p.His222Tyr,pathogenic
P04839:p.Gly223Leu,pathogenic
P04839:p.Ala224Gly,pathogenic
P04839:p.Ala224Val,benign
P04839:p.Glu225Val,pathogenic
P04839:p.Gln231Pro,pathogenic
P04839:p.Glu234Lys,benign
P04839:p.Ala237Ile,benign
P04839:p.Ala237Lys,benign
P04839:p.Ala237Ser,benign
P04839:p.Ala237Val,benign
P04839:p.Val238Ala,benign
P04839:p.Val238Glu,benign
P04839:p.Val238Lys,benign
P04839:p.Asn240His,benign
P04839:p.Asn240Arg,benign
P04839:p.Ile241Pro,benign
P04839:p.Ile241Val,benign
P04839:p.Thr242Glu,benign
P04839:p.Thr242Met,benign
P04839:p.Val243Asp,benign
P04839:p.Val243Glu,benign
P04839:p.Val243Phe,benign
P04839:p.Val243Lys,benign
P04839:p.Cys244Arg,pathogenic
P04839:p.Cys244Ser,pathogenic
P04839:p.Cys244Tyr,pathogenic
P04839:p.Glu245Tyr,benign
P04839:p.Gln246Lys,benign
P04839:p.Gln246Asn,benign
P04839:p.Lys247Asn,benign
P04839:p.Glu250Asp,benign
P04839:p.Ile254Ser,benign
P04839:p.Lys255Glu,benign
P04839:p.Lys255Gln,benign
P04839:p.Glu256Ala,benign
P04839:p.Glu256Asp,benign
P04839:p.Glu256Lys,benign
P04839:p.Ile259Val,benign
P04839:p.Ala263Tyr,benign
P04839:p.Lys299Asn,pathogenic
P04839:p.His303Asn,pathogenic
P04839:p.Pro304Arg,pathogenic
P04839:p.Thr307Pro,pathogenic
P04839:p.Glu309Lys,pathogenic
P04839:p.Gly322Glu,pathogenic
P04839:p.Ile325Phe,pathogenic
P04839:p.Ser333Pro,pathogenic
P04839:p.Lys334Arg,benign
P04839:p.His338Asp,pathogenic
P04839:p.His338Tyr,pathogenic
P04839:p.Pro339His,pathogenic
P04839:p.Leu342Gln,pathogenic
P04839:p.Ser344Phe,pathogenic
P04839:p.Arg356Pro,pathogenic
P04839:p.Glu375Lys,benign
P04839:p.Gly389Ala,pathogenic
P04839:p.Gly389Glu,pathogenic
P04839:p.Met405Arg,pathogenic
P04839:p.Gly408Glu,pathogenic
P04839:p.Gly408Arg,pathogenic
P04839:p.Gly412Glu,pathogenic
P04839:p.Pro415His,pathogenic
P04839:p.Pro415Leu,pathogenic
P04839:p.Leu420Pro,pathogenic
P04839:p.Ser422Pro,pathogenic
P04839:p.Asn433Thr,benign
P04839:p.Lys435Arg,benign
P04839:p.Tyr440His,benign
P04839:p.Trp453Arg,pathogenic
P04839:p.Ser463Thr,benign
P04839:p.Arg468Ser,benign
P04839:p.Ala488Asp,pathogenic
P04839:p.Asp500Glu,pathogenic
P04839:p.Asp500Gly,pathogenic
P04839:p.Leu505Arg,pathogenic
P04839:p.Trp516Cys,pathogenic
P04839:p.Trp516Arg,pathogenic
P04839:p.Ile532Val,benign
P04839:p.Val534Asp,pathogenic
P04839:p.Cys537Arg,pathogenic
P04839:p.Glu544Lys,benign
P04839:p.Leu546Pro,pathogenic
P10275:p.Glu2Lys,pathogenic
P10275:p.Pro39Thr,benign
P10275:p.Gln58Leu,benign
P10275:p.Gln59Leu,benign
P10275:p.Gln60Leu,benign
P10275:p.Gln61Leu,benign
P10275:p.Gln62Leu,benign
P10275:p.Gln65Leu,benign
P10275:p.Gln66Leu,benign
P10275:p.Gln67Leu,benign
P10275:p.Gln67Pro,benign
P10275:p.Gln68Leu,benign
P10275:p.Gln68Arg,benign
P10275:p.Gln70Leu,benign
P10275:p.Gln72His,benign
P10275:p.Gln73Asn,benign
P10275:p.Gln74Arg,benign
P10275:p.Gln75Glu,benign
P10275:p.Glu79Gln,benign
P10275:p.Gln88Lys,benign
P10275:p.Arg99Gly,benign
P10275:p.Thr103Arg,benign
P10275:p.Val107Ala,benign
P10275:p.Gln112Arg,benign
P10275:p.Pro114His,benign
P10275:p.Leu121Pro,benign
P10275:p.Ala135Val,benign
P10275:p.Ser140Gly,benign
P10275:p.Gly171Ser,benign
P10275:p.Ala177Thr,benign
P10275:p.Ser184Asn,benign
P10275:p.Gln194Arg,pathogenic
P10275:p.Ser204Asn,benign
P10275:p.Ser206Asn,benign
P10275:p.Gly214Arg,pathogenic
P10275:p.Gly225Glu,benign
P10275:p.Asn233Ser,benign
P10275:p.Leu255Pro,pathogenic
P10275:p.Glu259Asp,benign
P10275:p.Pro269Ser,benign
P10275:p.Leu270Val,benign
P10275:p.Ala276Gly,benign
P10275:p.Thr280Ile,benign
P10275:p.Ala283Thr,benign
P10275:p.Ala305Val,benign
P10275:p.Gly313Val,benign
P10275:p.Ala329Gly,benign
P10275:p.Thr342Ala,benign
P10275:p.Pro390Arg,pathogenic
P10275:p.Pro390Ser,pathogenic
P10275:p.Asp408Glu,benign
P10275:p.Pro420Ser,benign
P10275:p.Gln443Arg,pathogenic
P10275:p.Cys448Val,benign
P10275:p.Gly471Ala,benign
P10275:p.Glu473Gly,benign
P10275:p.Ala474Gly,benign
P10275:p.Ala478Asp,benign
P10275:p.Thr483Pro,benign
P10275:p.Gly491Ser,pathogenic
P10275:p.Ser494Gly,benign
P10275:p.Thr497Pro,benign
P10275:p.Met507Val,benign
P10275:p.Thr517Ser,benign
P10275:p.Asp536Tyr,benign
P10275:p.Leu547Phe,pathogenic
P10275:p.Pro548Ser,pathogenic
P10275:p.Cys559Tyr,pathogenic
P10275:p.Ala566Thr,benign
P10275:p.Gly568Trp,pathogenic
P10275:p.Tyr571Cys,pathogenic
P10275:p.Ala573Asp,pathogenic
P10275:p.Cys576Phe,pathogenic
P10275:p.Cys576Arg,pathogenic
P10275:p.Cys579Phe,pathogenic
P10275:p.Cys579Tyr,pathogenic
P10275:p.Val581Phe,pathogenic
P10275:p.Phe582Ser,pathogenic
P10275:p.Phe582Tyr,pathogenic
P10275:p.Arg585Lys,pathogenic
P10275:p.Ala596Thr,pathogenic
P10275:p.Ser597Gly,pathogenic
P10275:p.Cys601Phe,pathogenic
P10275:p.Asp604Tyr,pathogenic
P10275:p.Arg607Gln,pathogenic
P10275:p.Arg608Lys,pathogenic
P10275:p.Asn610Thr,pathogenic
P10275:p.Cys611Tyr,pathogenic
P10275:p.Arg615His,pathogenic
P10275:p.Arg615Pro,pathogenic
P10275:p.Arg615Ser,benign
P10275:p.Leu616Pro,pathogenic
P10275:p.Leu616Arg,pathogenic
P10275:p.Arg617Pro,pathogenic
P10275:p.Thr652Asn,benign
P10275:p.Thr656Ala,benign
P10275:p.Ile664Asn,pathogenic
P10275:p.Pro671His,pathogenic
P10275:p.Leu677Pro,pathogenic
P10275:p.Glu681Lys,pathogenic
P10275:p.Pro682Thr,pathogenic
P10275:p.Val684Ile,pathogenic
P10275:p.Cys686Arg,pathogenic
P10275:p.Ala687Val,pathogenic
P10275:p.Gly688Glu,pathogenic
P10275:p.Asp695His,pathogenic
P10275:p.Asp695Asn,pathogenic
P10275:p.Asp695Val,pathogenic
P10275:p.Leu700Met,pathogenic
P10275:p.Leu701Phe,pathogenic
P10275:p.Leu701His,pathogenic
P10275:p.Ser702Ala,pathogenic
P10275:p.Ser703Cys,pathogenic
P10275:p.Ser703Gly,pathogenic
P10275:p.Asn705Ser,pathogenic
P10275:p.Asn705Tyr,pathogenic
P10275:p.Leu707Arg,pathogenic
P10275:p.Gly708Ala,pathogenic
P10275:p.Gly708Val,pathogenic
P10275:p.Arg710Thr,pathogenic
P10275:p.Gln711Glu,pathogenic
P10275:p.Leu712Phe,pathogenic
P10275:p.Leu722Phe,pathogenic
P10275:p.Pro723Ser,pathogenic
P10275:p.Gly724Asp,pathogenic
P10275:p.Phe725Leu,benign
P10275:p.Asn727Lys,pathogenic
P10275:p.Leu728Ser,pathogenic
P10275:p.Asp732Asn,pathogenic
P10275:p.Asp732Tyr,pathogenic
P10275:p.Gln733His,pathogenic
P10275:p.Ile737Thr,pathogenic
P10275:p.Trp741Arg,pathogenic
P10275:p.Met742Ile,pathogenic
P10275:p.Met742Val,pathogenic
P10275:p.Gly743Glu,pathogenic
P10275:p.Gly743Val,pathogenic
P10275:p.Leu744Phe,pathogenic
P10275:p.Met745Thr,pathogenic
P10275:p.Val746Met,pathogenic
P10275:p.Ala748Asp,pathogenic
P10275:p.Met749Val,pathogenic
P10275:p.Gly750Asp,pathogenic
P10275:p.Trp751Arg,pathogenic
P10275:p.Arg752Gln,pathogenic
P10275:p.Phe754Leu,pathogenic
P10275:p.Phe754Val,pathogenic
P10275:p.Asn756Ser,pathogenic
P10275:p.Asn758Thr,pathogenic
P10275:p.Ser759Phe,pathogenic
P10275:p.Leu762Phe,pathogenic
P10275:p.Tyr763Cys,pathogenic
P10275:p.Tyr763His,pathogenic
P10275:p.Phe764Leu,pathogenic
P10275:p.Ala765Thr,pathogenic
P10275:p.Ala765Val,pathogenic
P10275:p.Pro766Ser,pathogenic
P10275:p.Asp767Glu,pathogenic
P10275:p.Leu768Pro,pathogenic
P10275:p.Asn771His,pathogenic
P10275:p.Glu772Ala,pathogenic
P10275:p.Glu772Gly,pathogenic
P10275:p.Arg774Cys,pathogenic
P10275:p.Arg774His,pathogenic
P10275:p.Arg779Trp,pathogenic
P10275:p.Met780Ile,pathogenic
P10275:p.Cys784Tyr,pathogenic
P10275:p.Met787Val,pathogenic
P10275:p.Arg788Ser,pathogenic
P10275:p.Leu790Phe,pathogenic
P10275:p.Phe794Ser,pathogenic
P10275:p.Gln798Glu,pathogenic
P10275:p.Cys806Tyr,pathogenic
P10275:p.Met807Arg,pathogenic
P10275:p.Met807Thr,pathogenic
P10275:p.Met807Val,pathogenic
P10275:p.Leu810Met,benign
P10275:p.Leu812Phe,pathogenic
P10275:p.Ser814Asn,pathogenic
P10275:p.Gly820Ala,pathogenic
P10275:p.Leu821Val,pathogenic
P10275:p.Phe827Val,pathogenic
P10275:p.Arg831Leu,pathogenic
P10275:p.Arg831Gln,pathogenic
P10275:p.Tyr834Cys,pathogenic
P10275:p.Arg840Cys,pathogenic
P10275:p.Arg840Gly,pathogenic
P10275:p.Arg840His,pathogenic
P10275:p.Arg840Ser,pathogenic
P10275:p.Ile841Ser,pathogenic
P10275:p.Ile842Thr,pathogenic
P10275:p.Asn848Ile,benign
P10275:p.Arg854Lys,pathogenic
P10275:p.Arg855Cys,pathogenic
P10275:p.Arg855His,pathogenic
P10275:p.Phe856Leu,pathogenic
P10275:p.Leu863Arg,pathogenic
P10275:p.Asp864Gly,pathogenic
P10275:p.Asp864Asn,pathogenic
P10275:p.Ser865Pro,pathogenic
P10275:p.Val866Glu,pathogenic
P10275:p.Val866Leu,pathogenic
P10275:p.Val866Met,pathogenic
P10275:p.Gln867His,benign
P10275:p.Ile869Met,pathogenic
P10275:p.Ala870Gly,pathogenic
P10275:p.Ala870Val,pathogenic
P10275:p.Arg871Gly,pathogenic
P10275:p.His874Arg,pathogenic
P10275:p.Asp879Tyr,pathogenic
P10275:p.Leu881Val,pathogenic
P10275:p.Met886Val,pathogenic
P10275:p.Val889Met,pathogenic
P10275:p.Pro892Leu,pathogenic
P10275:p.Met895Thr,pathogenic
P10275:p.Ile898Thr,pathogenic
P10275:p.Val903Met,pathogenic
P10275:p.Pro904His,pathogenic
P10275:p.Pro904Ser,pathogenic
P10275:p.Leu907Phe,pathogenic
P10275:p.Gly909Arg,pathogenic
P10275:p.Val911Leu,pathogenic
P10275:p.Pro913Ser,pathogenic
P10275:p.Phe916Leu,pathogenic
P10275:p.His917Arg,pathogenic
P55017:p.Pro5Thr,benign
P55017:p.Thr6Ala,benign
P55017:p.Thr6Ser,benign
P55017:p.Ala13Pro,benign
P55017:p.Asp29Glu,benign
P55017:p.Pro31Gln,benign
P55017:p.Tyr37Cys,benign
P55017:p.Thr46Ser,benign
P55017:p.Ser48Gly,benign
P55017:p.Thr60Met,pathogenic
P55017:p.Asp62Asn,pathogenic
P55017:p.Thr66Ala,benign
P55017:p.Glu68Lys,pathogenic
P55017:p.His69Asn,pathogenic
P55017:p.Thr74Ser,benign
P55017:p.His90Tyr,pathogenic
P55017:p.Ala102Thr,benign
P55017:p.Phe105Leu,benign
P55017:p.Gly120Asp,benign
P55017:p.Glu127Gly,benign
P55017:p.Arg145His,pathogenic
P55017:p.Val153Met,pathogenic
P55017:p.Ile154Phe,pathogenic
P55017:p.Arg158Gln,pathogenic
P55017:p.Thr163Met,pathogenic
P55017:p.Trp172Arg,pathogenic
P55017:p.Ile173Thr,benign
P55017:p.Ser178Leu,pathogenic
P55017:p.Thr180Lys,pathogenic
P55017:p.Thr180Met,benign
P55017:p.Ser183Thr,benign
P55017:p.Gly186Asp,pathogenic
P55017:p.Arg209Gln,pathogenic
P55017:p.Arg209Trp,pathogenic
P55017:p.Leu215Pro,pathogenic
P55017:p.Ala226Thr,pathogenic
P55017:p.Gly230Asp,pathogenic
P55017:p.Ala251Thr,benign
P55017:p.Ile257Thr,benign
P55017:p.Asp259His,benign
P55017:p.Arg261His,pathogenic
P55017:p.Ala264Gly,benign
P55017:p.Val266Asp,benign
P55017:p.Ala277Val,benign
P55017:p.Ser283Tyr,pathogenic
P55017:p.Lys284Arg,pathogenic
P55017:p.Val302Ala,benign
P55017:p.Thr304Pro,pathogenic
P55017:p.Ala313Val,pathogenic
P55017:p.Gly316Val,pathogenic
P55017:p.Arg321Trp,pathogenic
P55017:p.Ala322Gly,benign
P55017:p.Arg334Trp,pathogenic
P55017:p.Gly342Ala,pathogenic
P55017:p.Pro349Leu,pathogenic
P55017:p.Ile369Val,benign
P55017:p.Gly374Val,pathogenic
P55017:p.Ser395Lys,benign
P55017:p.Cys396Trp,benign
P55017:p.Val397Met,benign
P55017:p.Val397Pro,benign
P55017:p.Val398Ala,benign
P55017:p.Arg399Cys,pathogenic
P55017:p.Arg399Gln,benign
P55017:p.Asp400Pro,benign
P55017:p.Asn406Asp,benign
P55017:p.Val409Met,benign
P55017:p.Thr410Ser,benign
P55017:p.Gly412Ser,benign
P55017:p.Cys421Arg,pathogenic
P55017:p.Ser422Gly,benign
P55017:p.Ser422Asn,benign
P55017:p.Thr431Ala,benign
P55017:p.His434Gln,benign
P55017:p.His437Arg,benign
P55017:p.Gly439Ser,pathogenic
P55017:p.Gly463Glu,pathogenic
P55017:p.Ala464Thr,pathogenic
P55017:p.Lys478Glu,pathogenic
P55017:p.Glu485Lys,benign
P55017:p.Asp486Asn,pathogenic
P55017:p.Gly496Cys,pathogenic
P55017:p.Tyr513His,benign
P55017:p.Ile521Val,benign
P55017:p.Leu542Pro,pathogenic
P55017:p.Ile552Val,benign
P55017:p.Ser555Leu,pathogenic
P55017:p.Pro560His,pathogenic
P55017:p.Ala569Glu,pathogenic
P55017:p.Ala569Val,pathogenic
P55017:p.Ile575Val,benign
P55017:p.Val578Met,pathogenic
P55017:p.Ala588Val,pathogenic
P55017:p.Val595Met,benign
P55017:p.Gly613Ser,pathogenic
P55017:p.Ser615Leu,pathogenic
P55017:p.Ser615Trp,pathogenic
P55017:p.Leu623Pro,pathogenic
P55017:p.Val629Ala,benign
P55017:p.Gly630Val,pathogenic
P55017:p.Arg642Cys,pathogenic
P55017:p.Arg642Gly,pathogenic
P55017:p.Arg642His,pathogenic
P55017:p.Pro643Leu,pathogenic
P55017:p.Thr649Arg,pathogenic
P55017:p.Arg655Cys,pathogenic
P55017:p.Arg655His,pathogenic
P55017:p.Arg655Leu,pathogenic
P55017:p.Arg667Gln,benign
P55017:p.Met672Ile,pathogenic
P55017:p.Val677Leu,pathogenic
P55017:p.Val677Met,pathogenic
P55017:p.His682Pro,benign
P55017:p.Gln690Arg,benign
P55017:p.Ala693Thr,benign
P55017:p.Asn694Asp,benign
P55017:p.Asn694Ser,benign
P55017:p.Asn701Lys,benign
P55017:p.Ser710Leu,benign
P55017:p.Val712Ile,benign
P55017:p.Arg719Lys,benign
P55017:p.Arg719Ser,benign
P55017:p.Val721Ala,benign
P55017:p.Gln726Lys,benign
P55017:p.Ala728Ser,benign
P55017:p.Ala728Thr,benign
P55017:p.Gly729Val,pathogenic
P55017:p.Gly731Arg,pathogenic
P55017:p.Leu738Arg,pathogenic
P55017:p.Gly741Arg,pathogenic
P55017:p.Ala749Asp,benign
P55017:p.Met774Val,benign
P55017:p.Val782Met,benign
P55017:p.Lys784Arg,benign
P55017:p.Ala788Val,benign
P55017:p.Gly800Ala,benign
P55017:p.Gly800Ser,benign
P55017:p.Ala805Thr,benign
P55017:p.Val807Leu,benign
P55017:p.Val807Met,benign
P55017:p.Lys810Glu,benign
P55017:p.Lys814Gln,benign
P55017:p.Lys814Arg,benign
P55017:p.Gln817Glu,benign
P55017:p.Thr819Ser,benign
P55017:p.Ile821Val,benign
P55017:p.Leu842Gln,benign
P55017:p.Thr843Cys,benign
P55017:p.Leu844Pro,benign
P55017:p.Tyr848Trp,benign
P55017:p.Leu849His,pathogenic
P55017:p.Leu849Ile,benign
P55017:p.Leu850Pro,pathogenic
P55017:p.Leu850Ser,benign
P55017:p.Gly851Pro,benign
P55017:p.Gly851Arg,benign
P55017:p.Arg852Cys,pathogenic
P55017:p.Arg852His,pathogenic
P55017:p.Arg852Pro,benign
P55017:p.Arg852Ser,pathogenic
P55017:p.Lys853Ala,benign
P55017:p.Arg854Lys,benign
P55017:p.Gly867Ser,pathogenic
P55017:p.Arg871His,pathogenic
P55017:p.Glu875Gln,benign
P55017:p.Ile879Met,benign
P55017:p.Asn902Ile,benign
P55017:p.His907Arg,benign
P55017:p.Thr908Ile,benign
P55017:p.Glu932Asp,benign
P55017:p.Met933Ile,benign
P55017:p.Ile946Met,benign
P55017:p.Thr947Arg,benign
P55017:p.Arg955Gln,pathogenic
P55017:p.Arg958Gly,pathogenic
P55017:p.Val963Leu,benign
P55017:p.Ile973Val,benign
P55017:p.Lys984Glu,benign
P55017:p.Cys985Tyr,pathogenic
P55017:p.Glu995Asp,benign
P55017:p.Phe1018Val,benign
Q06124:p.Met1Ala,benign
Q06124:p.Met1Cys,benign
Q06124:p.Met1Glu,benign
Q06124:p.Met1Phe,benign
Q06124:p.Met1Gly,benign
Q06124:p.Met1Ile,benign
Q06124:p.Met1Lys,benign
Q06124:p.Met1Leu,benign
Q06124:p.Met1Gln,benign
Q06124:p.Met1Arg,benign
Q06124:p.Met1Ser,benign
Q06124:p.Met1Val,benign
Q06124:p.Thr2Ala,benign
Q06124:p.Thr2Cys,benign
Q06124:p.Thr2Glu,benign
Q06124:p.Thr2Phe,benign
Q06124:p.Thr2Ile,pathogenic
Q06124:p.Thr2Lys,benign
Q06124:p.Thr2Leu,benign
Q06124:p.Thr2Met,benign
Q06124:p.Thr2Asn,benign
Q06124:p.Thr2Arg,benign
Q06124:p.Thr2Ser,benign
Q06124:p.Thr2Val,benign
Q06124:p.Thr2Trp,benign
Q06124:p.Ser3Ala,benign
Q06124:p.Ser3Cys,benign
Q06124:p.Ser3Asp,benign
Q06124:p.Ser3Phe,benign
Q06124:p.Ser3Ile,benign
Q06124:p.Ser3Lys,benign
Q06124:p.Ser3Leu,benign
Q06124:p.Ser3Met,benign
Q06124:p.Ser3Pro,benign
Q06124:p.Ser3Gln,benign
Q06124:p.Ser3Arg,benign
Q06124:p.Ser3Thr,benign
Q06124:p.Ser3Val,benign
Q06124:p.Arg4Ala,benign
Q06124:p.Arg4Cys,benign
Q06124:p.Arg4Glu,benign
Q06124:p.Arg4Phe,benign
Q06124:p.Arg4Gly,benign
Q06124:p.Arg4Ile,benign
Q06124:p.Arg4Lys,benign
Q06124:p.Arg4Leu,benign
Q06124:p.Arg4Asn,benign
Q06124:p.Arg4Gln,benign
Q06124:p.Arg4Ser,benign
Q06124:p.Arg4Thr,benign
Q06124:p.Arg4Tyr,benign
Q06124:p.Arg5Cys,benign
Q06124:p.Arg5Glu,benign
Q06124:p.Arg5Gly,benign
Q06124:p.Arg5Lys,benign
Q06124:p.Arg5Leu,benign
Q06124:p.Arg5Gln,benign
Q06124:p.Thr12Ser,benign
Q06124:p.Ser34Arg,benign
Q06124:p.Pro38Met,benign
Q06124:p.Gly39Asp,benign
Q06124:p.Asp40Asn,benign
Q06124:p.Thr42Ala,pathogenic
Q06124:p.Val45Ala,benign
Q06124:p.Asn48Thr,benign
Q06124:p.Asn58Lys,pathogenic
Q06124:p.Thr59Ala,pathogenic
Q06124:p.Gly60Ala,pathogenic
Q06124:p.Asp61Gly,pathogenic
Q06124:p.Asp61Asn,pathogenic
Q06124:p.Asp61Val,pathogenic
Q06124:p.Asp61Tyr,pathogenic
Q06124:p.Tyr62Asp,pathogenic
Q06124:p.Tyr63Cys,pathogenic
Q06124:p.Glu69Lys,pathogenic
Q06124:p.Glu69Gln,pathogenic
Q06124:p.Ala72Gly,pathogenic
Q06124:p.Ala72Ser,pathogenic
Q06124:p.Ala72Thr,pathogenic
Q06124:p.Ala72Val,pathogenic
Q06124:p.Thr73Ile,pathogenic
Q06124:p.Glu76Ala,pathogenic
Q06124:p.Glu76Asp,pathogenic
Q06124:p.Glu76Gly,pathogenic
Q06124:p.Glu76Lys,pathogenic
Q06124:p.Glu76Val,pathogenic
Q06124:p.Gln79Pro,pathogenic
Q06124:p.Gln79Arg,pathogenic
Q06124:p.Ile96Met,benign
Q06124:p.Asp106Ala,pathogenic
Q06124:p.Lys120Arg,benign
Q06124:p.Glu139Asp,pathogenic
Q06124:p.Phe147Cys,benign
Q06124:p.Arg152Val,benign
Q06124:p.Gly154Asp,benign
Q06124:p.Gly154Ser,benign
Q06124:p.Gly158Val,benign
Q06124:p.Gly158Trp,benign
Q06124:p.Glu159Asp,benign
Q06124:p.Glu159Lys,benign
Q06124:p.Ser160Cys,benign
Q06124:p.Ser160Ile,benign
Q06124:p.Asn161Ser,benign
Q06124:p.Gly163Ala,benign
Q06124:p.Gly163Ser,benign
Q06124:p.Arg173His,benign
Q06124:p.Glu176Asp,benign
Q06124:p.Leu177Met,benign
Q06124:p.Val181Cys,benign
Q06124:p.Gly182Asp,benign
Q06124:p.Glu185Gly,benign
Q06124:p.Arg186Lys,benign
Q06124:p.Leu216Val,benign
Q06124:p.Asn217Ser,benign
Q06124:p.Arg220His,benign
Q06124:p.Thr253Val,benign
Q06124:p.Gln255His,benign
Q06124:p.Gln256Ile,benign
Q06124:p.Gln256Arg,pathogenic
Q06124:p.Gln256Tyr,benign
Q06124:p.Gln257Glu,benign
Q06124:p.Gln257Pro,benign
Q06124:p.Glu258Ser,benign
Q06124:p.Cys259Val,benign
Q06124:p.Lys260Asn,benign
Q06124:p.Lys260Ser,benign
Q06124:p.Leu261Ala,benign
Q06124:p.Tyr263Cys,benign
Q06124:p.Ser264Arg,benign
Q06124:p.Gln271Cys,benign
Q06124:p.Gln271His,benign
Q06124:p.Gln271Pro,benign
Q06124:p.Glu272Ala,benign
Q06124:p.Glu272Arg,benign
Q06124:p.Asn273Asp,benign
Q06124:p.Asn273Glu,benign
Q06124:p.Asn273Met,benign
Q06124:p.Asn273Ser,benign
Q06124:p.Lys274Glu,benign
Q06124:p.Lys274Asn,benign
Q06124:p.Lys274Gln,benign
Q06124:p.Asn275Gln,benign
Q06124:p.Lys276Leu,benign
Q06124:p.Lys276Val,benign
Q06124:p.Asn277Cys,benign
Q06124:p.Asn277Leu,benign
Q06124:p.Arg278Ile,benign
Q06124:p.Arg278Leu,benign
Q06124:p.Tyr279Cys,pathogenic
Q06124:p.Tyr279Phe,benign
Q06124:p.Tyr279Ser,pathogenic
Q06124:p.Lys280Ala,benign
Q06124:p.Asn281Cys,benign
Q06124:p.Asn281Phe,benign
Q06124:p.Ile282Leu,benign
Q06124:p.Ile282Pro,benign
Q06124:p.Ile282Val,pathogenic
Q06124:p.Leu283His,benign
Q06124:p.Pro284Thr,benign
Q06124:p.Phe285Leu,pathogenic
Q06124:p.Phe285Ser,pathogenic
Q06124:p.Phe285Val,benign
Q06124:p.Asp294Asn,benign
Q06124:p.Pro300Leu,benign
Q06124:p.Val301Ala,benign
Q06124:p.Asn308Asp,pathogenic
Q06124:p.Asn308Ser,pathogenic
Q06124:p.Glu315Lys,benign
Q06124:p.Glu315Gln,benign
Q06124:p.Thr316Ser,benign
Q06124:p.Asn320His,benign
Q06124:p.Asn320Ser,benign
Q06124:p.Asn320Thr,benign
Q06124:p.Ser321Ala,benign
Q06124:p.Pro323Ala,benign
Q06124:p.Lys324Arg,benign
Q06124:p.Gln347Arg,benign
Q06124:p.Asn349Asp,benign
Q06124:p.Val354Ser,benign
Q06124:p.Lys364Glu,benign
Q06124:p.Asp373Glu,benign
Q06124:p.Tyr375Cys,benign
Q06124:p.Tyr375Phe,benign
Q06124:p.Tyr375His,benign
Q06124:p.Tyr375Asn,benign
Q06124:p.Ala376Ser,benign
Q06124:p.Glu379Asp,benign
Q06124:p.Val382Ala,benign
Q06124:p.Met383Ile,benign
Q06124:p.Arg384Cys,benign
Q06124:p.Arg384His,benign
Q06124:p.Val388Ala,benign
Q06124:p.Val388Ile,benign
Q06124:p.Lys389Arg,benign
Q06124:p.His394Pro,benign
Q06124:p.Asp395Asn,benign
Q06124:p.Val406Gly,benign
Q06124:p.Gly407Gln,benign
Q06124:p.Ala409Val,benign
Q06124:p.Thr415Met,pathogenic
Q06124:p.Thr418Met,benign
Q06124:p.Thr426Ala,benign
Q06124:p.Ser434Thr,benign
Q06124:p.His448Gln,benign
Q06124:p.Ser452Gly,benign
Q06124:p.Ser452Asn,benign
Q06124:p.Met454Ala,benign
Q06124:p.Met454Cys,benign
Q06124:p.Met454Pro,benign
Q06124:p.Met454Ser,benign
Q06124:p.Met454Thr,benign
Q06124:p.Met454Val,benign
Q06124:p.Asp455Glu,benign
Q06124:p.Ala456Ser,benign
Q06124:p.Pro458Leu,benign
Q06124:p.Ala465Arg,benign
Q06124:p.Ala465Thr,pathogenic
Q06124:p.Gly466Val,benign
Q06124:p.Gly468Ala,pathogenic
Q06124:p.Arg469Trp,benign
Q06124:p.Thr470Asp,benign
Q06124:p.Gly471Glu,benign
Q06124:p.Thr472Met,pathogenic
Q06124:p.Thr472Val,benign
Q06124:p.Phe473Ala,benign
Q06124:p.Ile474Phe,benign
Q06124:p.Val475His,benign
Q06124:p.Ile476Leu,benign
Q06124:p.Asp477Ser,benign
Q06124:p.Ile478Leu,benign
Q06124:p.Asp481Ala,benign
Q06124:p.Ile483Ser,benign
Q06124:p.Arg484Thr,benign
Q06124:p.Val494Ile,benign
Q06124:p.Pro495Ser,pathogenic
Q06124:p.Arg502Leu,pathogenic
Q06124:p.Arg502Trp,pathogenic
Q06124:p.Arg505Lys,pathogenic
Q06124:p.Ser506Thr,pathogenic
Q06124:p.Gly507Ala,pathogenic
Q06124:p.Met508Val,pathogenic
Q06124:p.Gln510His,benign
Q06124:p.Gln510Pro,pathogenic
Q06124:p.Gln510Arg,pathogenic
Q06124:p.Gln514Pro,pathogenic
Q06124:p.Val522Ala,benign
Q06124:p.Ala554Ser,benign
Q06124:p.Ala554Thr,benign
Q06124:p.Ala554Val,benign
Q06124:p.Asp555Glu,benign
Q06124:p.Thr557Ala,benign
Q06124:p.Thr557Gly,benign
Q06124:p.Thr557Ile,benign
Q06124:p.Thr557Met,benign
Q06124:p.Ser558Ala,benign
Q06124:p.Ser558Gly,benign
Q06124:p.Ser558Thr,benign
Q06124:p.Asp560Glu,benign
Q06124:p.Gln561Pro,benign
Q06124:p.Leu564Phe,pathogenic
Q06124:p.Pro565Leu,benign
Q06124:p.Cys567Gly,benign
Q06124:p.Thr570Ala,benign
Q06124:p.Pro572Ala,benign
Q06124:p.Pro572Ser,benign
Q06124:p.Pro572Thr,benign
Q06124:p.Ala574Pro,benign
Q06124:p.Ala574Thr,benign
Q06124:p.Met576Leu,benign
Q06124:p.Glu578Asp,benign
Q06124:p.Asp579His,benign
Q06124:p.Asp579Asn,benign
Q06124:p.Ser580Ala,benign
Q06124:p.Ser580Asn,benign
Q06124:p.Ala581Met,benign
Q06124:p.Met590Val,benign
Q06124:p.Gln591His,benign
Q06124:p.Gln592Pro,benign
Q06124:p.Lys594Arg,benign
Q06124:p.Phe596Leu,benign
P08F94:p.Ser10Gly,benign
P08F94:p.Ile11Val,benign
P08F94:p.Val13Ala,benign
P08F94:p.Ala17Val,pathogenic
P08F94:p.Arg19Pro,benign
P08F94:p.Ala33Gly,benign
P08F94:p.Thr36Met,pathogenic
P08F94:p.Leu47Ser,benign
P08F94:p.Leu50Phe,benign
P08F94:p.Val65Thr,benign
P08F94:p.Val69Ala,benign
P08F94:p.Arg73Pro,benign
P08F94:p.Val75Ile,benign
P08F94:p.Thr90Met,benign
P08F94:p.Arg92Trp,pathogenic
P08F94:p.Val96Leu,benign
P08F94:p.Phe106Ser,benign
P08F94:p.Gln114Arg,benign
P08F94:p.Asn120Ser,benign
P08F94:p.Ser126Arg,benign
P08F94:p.Ala134Glu,benign
P08F94:p.Ala134Val,benign
P08F94:p.Gln141His,benign
P08F94:p.Leu152Arg,benign
P08F94:p.His154Gln,benign
P08F94:p.Val155Ile,benign
P08F94:p.Ile160Met,benign
P08F94:p.Thr166Ser,benign
P08F94:p.Ile194Val,benign
P08F94:p.Arg196Lys,benign
P08F94:p.Met198Thr,benign
P08F94:p.Ser200Arg,benign
P08F94:p.Ile204Thr,benign
P08F94:p.His216Arg,benign
P08F94:p.Ile222Val,pathogenic
P08F94:p.Gly223Ser,pathogenic
P08F94:p.His240Arg,benign
P08F94:p.Ile246Thr,pathogenic
P08F94:p.Phe253Leu,pathogenic
P08F94:p.Tyr255Cys,pathogenic
P08F94:p.Asn276Asp,benign
P08F94:p.Asp285His,benign
P08F94:p.Asn286Ser,benign
P08F94:p.Gln289Arg,benign
P08F94:p.Ile292Val,benign
P08F94:p.Ala293Val,pathogenic
P08F94:p.Ile307Thr,pathogenic
P08F94:p.Val318Ala,benign
P08F94:p.Val318Thr,benign
P08F94:p.Gly326Val,pathogenic
P08F94:p.Gln367Lys,benign
P08F94:p.Phe372Leu,pathogenic
P08F94:p.Arg432Gly,benign
P08F94:p.Thr441Ser,benign
P08F94:p.Met451Lys,benign
P08F94:p.Gly466Glu,pathogenic
P08F94:p.Gly470Val,pathogenic
P08F94:p.Ile473Ser,pathogenic
P08F94:p.Tyr486His,pathogenic
P08F94:p.Val495Ala,benign
P08F94:p.Arg496Pro,pathogenic
P08F94:p.Arg496Gln,benign
P08F94:p.Thr538Asn,benign
P08F94:p.Ile539Thr,pathogenic
P08F94:p.Leu549Val,benign
P08F94:p.Ser554Ala,benign
P08F94:p.Arg564Gly,benign
P08F94:p.Arg564Gln,benign
P08F94:p.Pro566Leu,benign
P08F94:p.Val568Ile,benign
P08F94:p.Ser569Ala,benign
P08F94:p.Thr579Met,benign
P08F94:p.Arg589Cys,benign
P08F94:p.Arg592Gln,benign
P08F94:p.Leu596Val,benign
P08F94:p.Ile628Thr,benign
P08F94:p.Ile633Val,benign
P08F94:p.Ser647Thr,benign
P08F94:p.Thr649Lys,benign
P08F94:p.Glu654Lys,benign
P08F94:p.Glu654Asn,benign
P08F94:p.Trp656Cys,pathogenic
P08F94:p.Asp659His,benign
P08F94:p.Asp659Arg,benign
P08F94:p.Cys670Arg,benign
P08F94:p.Phe671Ser,benign
P08F94:p.His686Pro,pathogenic
P08F94:p.Asn689Asp,benign
P08F94:p.Leu691Val,benign
P08F94:p.Ala694Val,benign
P08F94:p.Val702Leu,benign
P08F94:p.Asp703Asn,pathogenic
P08F94:p.Pro724Arg,pathogenic
P08F94:p.Pro739Leu,pathogenic
P08F94:p.Thr752Met,benign
P08F94:p.Leu754Pro,benign
P08F94:p.Ile757Leu,pathogenic
P08F94:p.Arg760His,pathogenic
P08F94:p.Ser771Ala,benign
P08F94:p.Val776Ala,benign
P08F94:p.Thr778Ala,benign
P08F94:p.Arg781Gln,benign
P08F94:p.Arg783Trp,benign
P08F94:p.Asp803Glu,benign
P08F94:p.Pro805Leu,pathogenic
P08F94:p.Asp822Asn,benign
P08F94:p.Asp823Glu,benign
P08F94:p.Thr835Ser,benign
P08F94:p.His846Arg,benign
P08F94:p.Val847Leu,benign
P08F94:p.Thr854Ala,benign
P08F94:p.Glu868Gly,benign
P08F94:p.Thr879Met,benign
P08F94:p.Arg880His,benign
P08F94:p.Thr899Pro,pathogenic
P08F94:p.Thr904Ser,benign
P08F94:p.Gln924Arg,benign
P08F94:p.Ile940Val,benign
P08F94:p.Ile944Val,benign
P08F94:p.Met947Thr,benign
P08F94:p.Thr969Met,benign
P08F94:p.Ser970Asn,benign
P08F94:p.Met992Val,benign
P08F94:p.Met997Lys,pathogenic
P08F94:p.Lys1018Glu,benign
P08F94:p.Met1023Thr,benign
P08F94:p.Arg1028Thr,benign
P08F94:p.Ala1030Glu,pathogenic
P08F94:p.Ile1050Val,benign
P08F94:p.Ala1062Thr,benign
P08F94:p.Lys1078Glu,benign
P08F94:p.Arg1081His,benign
P08F94:p.Ile1082Val,benign
P08F94:p.Asp1091Asn,benign
P08F94:p.Tyr1092His,benign
P08F94:p.Ser1093Phe,benign
P08F94:p.Ile1117Thr,benign
P08F94:p.Gly1122Ser,pathogenic
P08F94:p.Gly1123Ser,pathogenic
P08F94:p.Arg1132Ser,benign
P08F94:p.Met1134Val,benign
P08F94:p.Leu1139Met,benign
P08F94:p.Val1145Ile,benign
P08F94:p.Pro1151Leu,benign
P08F94:p.Val1152Leu,benign
P08F94:p.Pro1166Ala,benign
P08F94:p.Pro1168Ser,benign
P08F94:p.Leu1171Arg,benign
P08F94:p.Val1176Ile,benign
P08F94:p.Val1181Ile,benign
P08F94:p.His1184Arg,benign
P08F94:p.Gln1193His,benign
P08F94:p.Leu1227Ser,benign
P08F94:p.Leu1231Phe,benign
P08F94:p.Arg1235Gln,benign
P08F94:p.Leu1242Ile,benign
P08F94:p.Ala1245Val,benign
P08F94:p.Cys1249Trp,pathogenic
P08F94:p.Asp1259His,benign
P08F94:p.Asp1259Tyr,benign
P08F94:p.Gly1261Asp,benign
P08F94:p.Ala1262Thr,benign
P08F94:p.Phe1277Ser,benign
P08F94:p.Arg1280His,benign
P08F94:p.Lys1289Asn,benign
P08F94:p.Glu1296Gln,benign
P08F94:p.His1318Arg,benign
P08F94:p.Val1328Ile,benign
P08F94:p.Val1338Ala,benign
P08F94:p.Val1347Ala,benign
P08F94:p.Val1347Ser,benign
P08F94:p.Val1347Thr,benign
P08F94:p.Ile1354Val,benign
P08F94:p.Arg1369Cys,benign
P08F94:p.Gln1372Arg,benign
P08F94:p.Val1380Ala,benign
P08F94:p.Leu1382Pro,benign
P08F94:p.Met1388Thr,benign
P08F94:p.Pro1389Thr,pathogenic
P08F94:p.Leu1407Arg,pathogenic
P08F94:p.Leu1412Val,benign
P08F94:p.Arg1418Thr,benign
P08F94:p.Val1432Glu,benign
P08F94:p.Val1432Gly,benign
P08F94:p.Gly1437Glu,benign
P08F94:p.Leu1468Ile,benign
P08F94:p.Cys1472Tyr,pathogenic
P08F94:p.Gln1473His,benign
P08F94:p.Thr1477Ala,benign
P08F94:p.Pro1486Leu,pathogenic
P08F94:p.Met1488Val,benign
P08F94:p.Ala1490Thr,benign
P08F94:p.Ser1498Cys,benign
P08F94:p.Gln1507Glu,benign
P08F94:p.Ala1510Gly,benign
P08F94:p.Ala1513Gly,benign
P08F94:p.Pro1525Leu,benign
P08F94:p.Phe1531Leu,benign
P08F94:p.Val1536Ile,benign
P08F94:p.Pro1545Ala,benign
P08F94:p.Gly1563Asp,benign
P08F94:p.Gly1563Thr,benign
P08F94:p.His1568Leu,benign
P08F94:p.Ser1584Ile,pathogenic
P08F94:p.Leu1585Ile,benign
P08F94:p.Leu1585Met,benign
P08F94:p.Thr1612Ala,benign
P08F94:p.Thr1615Met,benign
P08F94:p.Asn1617Ser,benign
P08F94:p.Arg1624Trp,pathogenic
P08F94:p.Val1634Ala,benign
P08F94:p.Tyr1645Arg,benign
P08F94:p.His1646Tyr,benign
P08F94:p.Ile1647Val,benign
P08F94:p.Gly1651Ser,benign
P08F94:p.Asn1653Ser,benign
P08F94:p.Lys1654Asn,benign
P08F94:p.Ile1663Val,benign
P08F94:p.Ser1664Phe,pathogenic
P08F94:p.Asp1668Gly,benign
P08F94:p.Ile1669Leu,benign
P08F94:p.Ile1687Val,benign
P08F94:p.Met1689Thr,benign
P08F94:p.Val1693Met,benign
P08F94:p.Val1705Met,benign
P08F94:p.Ala1729Val,benign
P08F94:p.Val1741Met,pathogenic
P08F94:p.Thr1742Lys,benign
P08F94:p.Arg1751Ser,benign
P08F94:p.Thr1781Ile,pathogenic
P08F94:p.Val1789Leu,pathogenic
P08F94:p.Val1794Ala,benign
P08F94:p.Arg1804Asp,benign
P08F94:p.Arg1804His,benign
P08F94:p.His1814Asn,benign
P08F94:p.Val1817Gly,pathogenic
P08F94:p.Met1825Val,benign
P08F94:p.Ala1826Gly,benign
P08F94:p.Thr1827Met,benign
P08F94:p.Gln1829Arg,benign
P08F94:p.Leu1830Met,benign
P08F94:p.Ser1833Leu,pathogenic
P08F94:p.Tyr1838Cys,pathogenic
P08F94:p.Phe1858Ser,benign
P08F94:p.Ile1866Val,benign
P08F94:p.Ser1867Asn,pathogenic
P08F94:p.Leu1870Val,benign
P08F94:p.Val1875Gly,pathogenic
P08F94:p.Gln1917Arg,pathogenic
P08F94:p.Trp1928Leu,pathogenic
P08F94:p.Asp1942Gly,pathogenic
P08F94:p.Val1946Ile,benign
P08F94:p.Thr1947Ile,benign
P08F94:p.Asn1950Ser,benign
P08F94:p.Leu1953Ser,benign
P08F94:p.Thr1958Ala,benign
P08F94:p.Ile1962Val,benign
P08F94:p.His1967Leu,benign
P08F94:p.Gly1971Asp,pathogenic
P08F94:p.Glu1995Gly,pathogenic
P08F94:p.Ile1998Thr,pathogenic
P08F94:p.Ala2009Thr,pathogenic
P08F94:p.Tyr2018His,benign
P08F94:p.Val2032Leu,pathogenic
P08F94:p.Cys2050His,benign
P08F94:p.Cys2050Arg,benign
P08F94:p.Cys2050Ser,benign
P08F94:p.Leu2058Gln,benign
P08F94:p.Leu2058Arg,benign
P08F94:p.Thr2060Ala,benign
P08F94:p.Asn2071His,benign
P08F94:p.Lys2085Glu,benign
P08F94:p.Leu2104Val,benign
P08F94:p.Leu2106Arg,pathogenic
P08F94:p.His2125Gln,benign
P08F94:p.Leu2128Phe,benign
P08F94:p.Ala2130Val,benign
P08F94:p.Leu2134Pro,pathogenic
P08F94:p.Ser2138Arg,benign
P08F94:p.Asn2144Thr,benign
P08F94:p.Val2154Leu,benign
P08F94:p.Asn2160Ser,benign
P08F94:p.Met2177Ile,benign
P08F94:p.Met2177Thr,benign
P08F94:p.Met2183Ile,benign
P08F94:p.Val2189Ile,benign
P08F94:p.Gln2207Arg,benign
P08F94:p.Gly2210Glu,pathogenic
P08F94:p.His2216Arg,benign
P08F94:p.Ser2219Leu,pathogenic
P08F94:p.Leu2222Met,benign
P08F94:p.Gly2224Arg,pathogenic
P08F94:p.Asn2238Ser,benign
P08F94:p.Thr2273Met,benign
P08F94:p.Asp2288Tyr,benign
P08F94:p.Ile2303Phe,pathogenic
P08F94:p.Gln2304Arg,benign
P08F94:p.Cys2325Leu,benign
P08F94:p.Cys2325Arg,benign
P08F94:p.Ile2331Lys,pathogenic
P08F94:p.Met2348Val,benign
P08F94:p.Asn2350Asp,benign
P08F94:p.Gln2351Lys,benign
P08F94:p.Thr2389Ile,benign
P08F94:p.Ser2410Gly,benign
P08F94:p.Lys2418Gln,benign
P08F94:p.Cys2422Gly,pathogenic
P08F94:p.Cys2422Arg,pathogenic
P08F94:p.Arg2423Ser,benign
P08F94:p.Val2429Ile,benign
P08F94:p.Glu2431Val,pathogenic
P08F94:p.Thr2508Ile,benign
P08F94:p.Ala2548Pro,benign
P08F94:p.Ser2554Ala,benign
P08F94:p.Gly2567Glu,benign
P08F94:p.Gly2567Arg,benign
P08F94:p.His2572Arg,benign
P08F94:p.Arg2573Cys,pathogenic
P08F94:p.Asn2580His,benign
P08F94:p.Asn2580Ser,benign
P08F94:p.Thr2581Ala,benign
P08F94:p.Ser2585Tyr,benign
P08F94:p.Arg2604Cys,benign
P08F94:p.Pro2610Leu,benign
P08F94:p.Arg2611His,benign
P08F94:p.Leu2618Val,benign
P08F94:p.Gln2626Arg,benign
P08F94:p.Thr2641Ala,pathogenic
P08F94:p.Cys2688Phe,pathogenic
P08F94:p.Gln2708Arg,benign
P08F94:p.Gln2710Arg,benign
P08F94:p.Arg2714Trp,benign
P08F94:p.Met2719Val,benign
P08F94:p.Ile2723Leu,benign
P08F94:p.Ala2725Asp,benign
P08F94:p.Pro2730Ser,benign
P08F94:p.Leu2734Phe,benign
P08F94:p.Ile2756Leu,benign
P08F94:p.Asp2761Tyr,pathogenic
P08F94:p.Pro2767Ser,benign
P08F94:p.Asn2768Asp,benign
P08F94:p.Leu2772Pro,pathogenic
P08F94:p.Val2798Gly,pathogenic
P08F94:p.Cys2803Arg,pathogenic
P08F94:p.Met2804Lys,pathogenic
P08F94:p.Ile2806Val,benign
P08F94:p.Lys2822Glu,benign
P08F94:p.Leu2829Phe,benign
P08F94:p.Met2841Leu,benign
P08F94:p.Asn2842Ser,benign
P08F94:p.Ile2846Thr,benign
P08F94:p.Ile2846Val,benign
P08F94:p.His2858Gln,benign
P08F94:p.Tyr2860Cys,benign
P08F94:p.Ser2861Gly,pathogenic
P08F94:p.Tyr2863Cys,pathogenic
P08F94:p.Pro2864Ser,benign
P08F94:p.Arg2891His,benign
P08F94:p.Val2897Ile,benign
P08F94:p.Lys2917Arg,benign
P08F94:p.Tyr2924His,benign
P08F94:p.Arg2926Gln,benign
P08F94:p.Ile2957Thr,pathogenic
P08F94:p.Asp2962Gly,pathogenic
P08F94:p.Val2963Ile,benign
P08F94:p.Ser2973Pro,benign
P08F94:p.Phe2974Leu,benign
P08F94:p.Arg2979Gly,benign
P08F94:p.Ser2983Leu,pathogenic
P08F94:p.Val3004Ile,benign
P08F94:p.Ala3011Glu,benign
P08F94:p.Ser3018Phe,pathogenic
P08F94:p.Ala3031Thr,benign
P08F94:p.Ser3033Asn,benign
P08F94:p.Val3036Gly,pathogenic
P08F94:p.Ala3047Thr,benign
P08F94:p.His3049Arg,pathogenic
P08F94:p.Ile3081Val,pathogenic
P08F94:p.Val3086Ala,benign
P08F94:p.Leu3102Val,benign
P08F94:p.Glu3115Gly,benign
P08F94:p.Ala3123Val,benign
P08F94:p.His3124Tyr,pathogenic
P08F94:p.Ser3126Asn,benign
P08F94:p.Val3161Ile,benign
P08F94:p.Ile3167Leu,pathogenic
P08F94:p.Asn3175Asp,pathogenic
P08F94:p.Asn3175Ser,pathogenic
P08F94:p.Ile3177Thr,pathogenic
P08F94:p.Val3193Ile,benign
P08F94:p.Val3204Ile,benign
P08F94:p.Ala3207Thr,pathogenic
P08F94:p.His3222Leu,benign
P08F94:p.Ile3241Val,benign
P08F94:p.Pro3252Gln,benign
P08F94:p.Arg3264Lys,benign
P08F94:p.His3267Arg,benign
P08F94:p.Leu3275Phe,benign
P08F94:p.Ser3289Asn,benign
P08F94:p.Asp3290Asn,benign
P08F94:p.Asp3293Val,pathogenic
P08F94:p.Ser3303Thr,benign
P08F94:p.Met3306Leu,benign
P08F94:p.Pro3328Ser,benign
P08F94:p.Ser3329Pro,benign
P08F94:p.Cys3346Arg,pathogenic
P08F94:p.Ala3347Val,benign
P08F94:p.Val3370Ile,benign
P08F94:p.Ala3380Thr,benign
P08F94:p.Phe3388Tyr,benign
P08F94:p.Gln3397Arg,benign
P08F94:p.Ile3404Val,benign
P08F94:p.Ser3417Gly,benign
P08F94:p.Ala3418Thr,benign
P08F94:p.Ile3421Thr,benign
P08F94:p.Val3440Ile,benign
P08F94:p.Ile3465Thr,benign
P08F94:p.Ile3468Val,pathogenic
P08F94:p.Thr3469Ser,benign
P08F94:p.Val3471Gly,pathogenic
P08F94:p.Gln3476Glu,benign
P08F94:p.Arg3482Cys,pathogenic
P08F94:p.Glu3502Val,pathogenic
P08F94:p.Ser3505Asn,benign
P08F94:p.Glu3529Gln,pathogenic
P08F94:p.Ile3553Thr,pathogenic
P08F94:p.Gly3558Ser,benign
P08F94:p.Leu3581Val,benign
P08F94:p.Gln3592Arg,benign
P08F94:p.Ile3598Leu,benign
P08F94:p.His3599Arg,benign
P08F94:p.Met3601Ile,benign
P08F94:p.Ser3614Asn,benign
P08F94:p.Cys3622Tyr,pathogenic
P08F94:p.Thr3626Ser,benign
P08F94:p.Thr3628Ala,benign
P08F94:p.Gly3635Ser,benign
P08F94:p.His3647Tyr,benign
P08F94:p.Ala3649Ser,benign
P08F94:p.Ser3650Leu,benign
P08F94:p.Met3653Thr,benign
P08F94:p.Ile3658Met,benign
P08F94:p.Met3677Thr,benign
P08F94:p.Arg3692Gln,benign
P08F94:p.Val3705Ile,benign
P08F94:p.Ile3722Thr,benign
P08F94:p.Thr3727Ser,benign
P08F94:p.Ala3742Val,benign
P08F94:p.Ile3745Val,benign
P08F94:p.Leu3746Val,benign
P08F94:p.Glu3769Gly,benign
P08F94:p.Pro3783Ser,pathogenic
P08F94:p.Thr3806Ser,benign
P08F94:p.Lys3844Gln,benign
P08F94:p.Pro3845Ser,benign
P08F94:p.Ser3864Cys,benign
P08F94:p.Gln3903Glu,benign
P08F94:p.Ile3905Asn,benign
P08F94:p.Ile3909Thr,benign
P08F94:p.Ser3911Phe,benign
P08F94:p.Arg3913Cys,benign
P08F94:p.Thr3924Ala,benign
P08F94:p.Val3925Ala,benign
P08F94:p.Gly3927Ala,benign
P08F94:p.Met3930Val,benign
P08F94:p.Lys3933Arg,benign
P08F94:p.Lys3938Arg,benign
P08F94:p.Val3939Leu,benign
P08F94:p.Cys3942Ser,benign
P08F94:p.Cys3942Tyr,benign
P08F94:p.Ser3956Asn,benign
P08F94:p.Arg3957Cys,pathogenic
P08F94:p.Val3960Ile,benign
P08F94:p.Arg3961Gln,benign
P08F94:p.Thr3973Ser,benign
P08F94:p.Ile3981Thr,benign
P08F94:p.Val3991Met,benign
P08F94:p.Leu4011Val,benign
P08F94:p.Ala4012Thr,benign
P08F94:p.Asn4015Asp,benign
P08F94:p.Asp4023Gly,benign
P08F94:p.Phe4024Leu,benign
P08F94:p.Arg4036Gln,benign
P08F94:p.Arg4036Trp,benign
P08F94:p.Ser4043Arg,benign
P08F94:p.Pro4067Leu,benign
P08F94:p.Thr4069Ala,benign
P22033:p.Ala4Val,benign
P22033:p.Asn6Thr,benign
P22033:p.Gln7Gly,benign
P22033:p.Gln7Arg,benign
P22033:p.Phe9Leu,benign
P22033:p.Leu10Ser,benign
P22033:p.Leu11Phe,benign
P22033:p.Leu11Arg,benign
P22033:p.Ser12Phe,benign
P22033:p.His14Asn,benign
P22033:p.Tyr15Cys,benign
P22033:p.Tyr15His,benign
P22033:p.Arg17His,benign
P22033:p.Arg17Lys,benign
P22033:p.Gln18Gly,benign
P22033:p.Gln18Lys,benign
P22033:p.Val19Ile,benign
P22033:p.Val19Leu,benign
P22033:p.Val19Arg,benign
P22033:p.Glu21Asp,benign
P22033:p.Glu21Gly,benign
P22033:p.Ser22Ala,benign
P22033:p.Ser22Pro,benign
P22033:p.Ser23Pro,benign
P22033:p.Ser23Thr,benign
P22033:p.Gly24Ser,benign
P22033:p.Gly24Val,benign
P22033:p.Ser25Cys,benign
P22033:p.Ser25Tyr,benign
P22033:p.Arg26Lys,benign
P22033:p.Leu27Phe,benign
P22033:p.Leu27Ile,benign
P22033:p.Ile28Leu,benign
P22033:p.Ile28Pro,benign
P22033:p.Ile28Thr,benign
P22033:p.Ile28Val,benign
P22033:p.Gln29Cys,benign
P22033:p.Gln29Arg,benign
P22033:p.Gln29Trp,benign
P22033:p.Gln30Ile,benign
P22033:p.Gln30Lys,benign
P22033:p.Gln30Arg,benign
P22033:p.Gln30Thr,benign
P22033:p.Leu32Cys,benign
P22033:p.Leu32Phe,benign
P22033:p.Leu32Arg,benign
P22033:p.Gln36Arg,benign
P22033:p.Gln37Glu,benign
P22033:p.Gln37Lys,benign
P22033:p.Leu39Phe,benign
P22033:p.Ala45Val,benign
P22033:p.Leu46Met,benign
P22033:p.Lys49Gln,benign
P22033:p.Lys49Arg,benign
P22033:p.Asp58Glu,benign
P22033:p.Asp58Asn,benign
P22033:p.Asp58Gln,benign
P22033:p.Ile60Met,benign
P22033:p.Ile60Val,benign
P22033:p.His62Arg,benign
P22033:p.Ser68Ala,benign
P22033:p.Lys75Arg,benign
P22033:p.Lys75Ser,benign
P22033:p.Arg76Ala,benign
P22033:p.Arg76Glu,benign
P22033:p.Met79Lys,benign
P22033:p.Met79Gln,benign
P22033:p.Met79Thr,benign
P22033:p.Met79Val,benign
P22033:p.Leu81Phe,benign
P22033:p.Pro82Ala,benign
P22033:p.Pro82Leu,benign
P22033:p.Glu83Gly,benign
P22033:p.Pro86Leu,pathogenic
P22033:p.Gly87Glu,pathogenic
P22033:p.Val88Met,benign
P22033:p.Arg93His,pathogenic
P22033:p.Gly94Arg,pathogenic
P22033:p.Gly94Val,pathogenic
P22033:p.Pro95Arg,pathogenic
P22033:p.Phe102Tyr,benign
P22033:p.Trp105Arg,pathogenic
P22033:p.Arg108Cys,pathogenic
P22033:p.Arg108Gly,pathogenic
P22033:p.Arg108His,pathogenic
P22033:p.Gln109Arg,pathogenic
P22033:p.Ser119Gly,benign
P22033:p.Ala137Val,pathogenic
P22033:p.Gly145Ser,pathogenic
P22033:p.Ser148Leu,pathogenic
P22033:p.Val153Leu,benign
P22033:p.Asp156Asn,pathogenic
P22033:p.Gly158Val,pathogenic
P22033:p.Phe174Ser,pathogenic
P22033:p.Lys181Asn,benign
P22033:p.Met186Val,pathogenic
P22033:p.Asn189Lys,pathogenic
P22033:p.Ala191Glu,pathogenic
P22033:p.Ala197Glu,pathogenic
P22033:p.Asn198Ala,benign
P22033:p.Asn198Thr,benign
P22033:p.Gly203Arg,pathogenic
P22033:p.Lys210Gln,benign
P22033:p.Glu211Asp,benign
P22033:p.Lys212Thr,benign
P22033:p.Gly215Cys,pathogenic
P22033:p.Gly215Ser,pathogenic
P22033:p.Gln218His,pathogenic
P22033:p.Asn219Tyr,pathogenic
P22033:p.Arg228Gln,pathogenic
P22033:p.Asn229Phe,benign
P22033:p.Thr230Ile,pathogenic
P22033:p.Thr230Leu,benign
P22033:p.Tyr231Asn,pathogenic
P22033:p.Ile232Lys,benign
P22033:p.Phe233Leu,benign
P22033:p.Pro234Asn,benign
P22033:p.Pro235Val,benign
P22033:p.Glu236Thr,benign
P22033:p.Pro237Ile,benign
P22033:p.Met239Ile,benign
P22033:p.Lys240Arg,benign
P22033:p.Ile241Tyr,benign
P22033:p.Ile242Phe,benign
P22033:p.Ala243Val,benign
P22033:p.Asp244Asn,benign
P22033:p.Phe246Ile,benign
P22033:p.Glu247Asn,benign
P22033:p.Glu247Gln,benign
P22033:p.Ala250Ser,benign
P22033:p.Lys251Gln,benign
P22033:p.His252Asn,benign
P22033:p.His252Tyr,benign
P22033:p.Ser262Asn,pathogenic
P22033:p.His265Tyr,pathogenic
P22033:p.Leu281Ile,benign
P22033:p.Leu281Ser,pathogenic
P22033:p.Leu281Val,benign
P22033:p.Ser288Cys,benign
P22033:p.Ser288Thr,benign
P22033:p.Gly291Glu,pathogenic
P22033:p.Gln293Pro,pathogenic
P22033:p.Thr297Ser,benign
P22033:p.Leu305Ser,pathogenic
P22033:p.Ser306Phe,pathogenic
P22033:p.Gly312Val,pathogenic
P22033:p.Tyr316Cys,pathogenic
P22033:p.Ala320Thr,benign
P22033:p.Ala324Thr,pathogenic
P22033:p.Leu328Phe,pathogenic
P22033:p.Leu328Pro,pathogenic
P22033:p.His331Arg,benign
P22033:p.Ile333Val,benign
P22033:p.Glu334Gln,benign
P22033:p.Lys335Gln,benign
P22033:p.Met336Lys,benign
P22033:p.Phe337Leu,benign
P22033:p.Asn341Asp,benign
P22033:p.Asn341Ser,benign
P22033:p.Leu347Arg,pathogenic
P22033:p.His350Tyr,pathogenic
P22033:p.Val368Asp,pathogenic
P22033:p.Val368Ile,benign
P22033:p.Arg369Cys,pathogenic
P22033:p.Arg369His,pathogenic
P22033:p.Thr370Pro,pathogenic
P22033:p.Ala371Thr,benign
P22033:p.Ile372Val,benign
P22033:p.Ala377Glu,pathogenic
P22033:p.Gln383His,pathogenic
P22033:p.Gln383Pro,pathogenic
P22033:p.His386Asn,pathogenic
P22033:p.Asn388His,pathogenic
P22033:p.Gly426Arg,pathogenic
P22033:p.Gly427Asp,pathogenic
P22033:p.Cys433Ser,benign
P22033:p.Val438Ile,benign
P22033:p.Asp440Glu,benign
P22033:p.Asp440Asn,benign
P22033:p.Asn447Asp,benign
P22033:p.Asn447Tyr,benign
P22033:p.Ile449Val,benign
P22033:p.Ile463Leu,benign
P22033:p.Arg467Lys,benign
P22033:p.Val485Ile,benign
P22033:p.Glu495Asp,benign
P22033:p.Asp498Glu,benign
P22033:p.Ala499Ser,benign
P22033:p.Ala499Thr,benign
P22033:p.Glu501Asp,benign
P22033:p.Asn512Lys,benign
P22033:p.Arg513Lys,benign
P22033:p.Arg513Thr,benign
P22033:p.Leu518Ile,benign
P22033:p.Leu518Pro,pathogenic
P22033:p.Lys519Gln,benign
P22033:p.Ile521Val,benign
P22033:p.Lys522Arg,benign
P22033:p.Ser523Ala,benign
P22033:p.Ser523Cys,benign
P22033:p.Ser523Gly,benign
P22033:p.Ser524Ile,benign
P22033:p.Ser524Thr,benign
P22033:p.Gln527Glu,benign
P22033:p.Ala528Asp,benign
P22033:p.Ala528Val,benign
P22033:p.Arg532Gln,benign
P22033:p.Cys533Ser,benign
P22033:p.Ala535Asp,benign
P22033:p.Ala535Asn,benign
P22033:p.Ala535Pro,pathogenic
P22033:p.Ala535Ser,benign
P22033:p.Ala535Thr,benign
P22033:p.Glu539Ala,benign
P22033:p.Glu539Lys,benign
P22033:p.Glu539Gln,benign
P22033:p.Gly544Arg,benign
P22033:p.Asp554Glu,benign
P22033:p.Ser556Ala,benign
P22033:p.Ser556Thr,benign
P22033:p.Cys560Tyr,pathogenic
P22033:p.Thr566Arg,pathogenic
P22033:p.Asp567Tyr,benign
P22033:p.Leu569Met,benign
P22033:p.Phe573Ser,pathogenic
P22033:p.Asn579Ser,benign
P22033:p.Tyr587Cys,pathogenic
P22033:p.Glu590Gly,benign
P22033:p.Lys595Gly,benign
P22033:p.Thr598Ala,benign
P22033:p.Thr598Ile,benign
P22033:p.Thr598Ser,benign
P22033:p.Ser599Phe,benign
P22033:p.Ser599Thr,benign
P22033:p.Ser599Tyr,benign
P22033:p.Lys602Asn,benign
P22033:p.His605Glu,benign
P22033:p.His605Asn,benign
P22033:p.His605Arg,benign
P22033:p.Lys606Asp,benign
P22033:p.Glu609Asp,benign
P22033:p.Pro615Arg,pathogenic
P22033:p.Pro615Thr,pathogenic
P22033:p.Arg616Cys,pathogenic
P22033:p.Leu617Arg,pathogenic
P22033:p.Lys621Asn,pathogenic
P22033:p.Gly623Arg,pathogenic
P22033:p.Gln624Arg,pathogenic
P22033:p.Gly626Cys,pathogenic
P22033:p.His627Arg,pathogenic
P22033:p.Gly630Glu,pathogenic
P22033:p.Val633Gly,pathogenic
P22033:p.Gly637Glu,pathogenic
P22033:p.Gly637Arg,pathogenic
P22033:p.Phe638Ile,pathogenic
P22033:p.Asp640Tyr,pathogenic
P22033:p.Gly642Arg,pathogenic
P22033:p.Gly648Asp,pathogenic
P22033:p.Arg655His,benign
P22033:p.Arg655Leu,benign
P22033:p.Ala668Thr,benign
P22033:p.Val669Glu,pathogenic
P22033:p.Ile671Leu,benign
P22033:p.Ile671Val,benign
P22033:p.His678Arg,pathogenic
P22033:p.Thr680Ser,benign
P22033:p.Leu685Arg,pathogenic
P22033:p.Asn690Ser,benign
P22033:p.Ser691Ala,benign
P22033:p.Ser691Thr,benign
P22033:p.Arg694Trp,pathogenic
P22033:p.Met700Lys,pathogenic
P22033:p.Gly703Arg,pathogenic
P22033:p.Glu711Asp,benign
P22033:p.Phe714Tyr,benign
P22033:p.Glu715Asp,benign
P22033:p.Gly717Val,pathogenic
P22033:p.Val721Ile,benign
P22033:p.Lys730Asn,benign
P22033:p.Val733Ile,benign
P22033:p.Gln734Glu,benign
P22033:p.Asp738Glu,benign
P22033:p.Cys742Ser,benign
P22033:p.Glu744Ala,benign
P22033:p.Lys745Glu,benign
P22033:p.Val750Ala,benign
P22033:p.Val750Ile,benign
P22033:p.Val750Met,benign
Q09428:p.Met1Leu,benign
Q09428:p.Leu3Ser,benign
Q09428:p.Ala4Gly,benign
Q09428:p.Ala4Gln,benign
Q09428:p.Phe5Leu,benign
Q09428:p.Cys6Ala,benign
Q09428:p.Gly7Ala,benign
Q09428:p.Gly7Arg,pathogenic
Q09428:p.Ser8Ala,benign
Q09428:p.Ser8Thr,benign
Q09428:p.Glu9Arg,benign
Q09428:p.Asn10Thr,benign
Q09428:p.His11Arg,benign
Q09428:p.His11Thr,benign
Q09428:p.Ser12Arg,benign
Q09428:p.Ala13Asp,benign
Q09428:p.Gln19His,benign
Q09428:p.Gln19Lys,benign
Q09428:p.Val21Asp,pathogenic
Q09428:p.Phe27Ser,pathogenic
Q09428:p.Val33Met,benign
Q09428:p.Val34Leu,benign
Q09428:p.Val37Leu,benign
Q09428:p.Phe38Leu,benign
Q09428:p.Ile42Val,benign
Q09428:p.Trp51Gln,benign
Q09428:p.Ser53Gly,benign
Q09428:p.Gln54Arg,benign
Q09428:p.Ser55Arg,benign
Q09428:p.Ser56Arg,benign
Q09428:p.Lys57Arg,benign
Q09428:p.Val58Cys,benign
Q09428:p.His59Ala,benign
Q09428:p.Ile60Pro,benign
Q09428:p.His62Arg,benign
Q09428:p.Thr64Ala,benign
Q09428:p.Trp65Ser,benign
Q09428:p.Leu66Pro,benign
Q09428:p.His67Ser,benign
Q09428:p.Phe68Gln,benign
Q09428:p.Gly70Glu,pathogenic
Q09428:p.His71Met,benign
Q09428:p.Asn72Cys,benign
Q09428:p.Asn72Asp,benign
Q09428:p.Leu73Phe,benign
Q09428:p.Arg74Gln,pathogenic
Q09428:p.Arg74Trp,pathogenic
Q09428:p.Trp75Ser,benign
Q09428:p.Ile76Ala,benign
Q09428:p.Ile76Val,benign
Q09428:p.Leu77Ile,benign
Q09428:p.Thr78Ser,benign
Q09428:p.Phe79Gln,benign
Q09428:p.Met80Ala,benign
Q09428:p.Met80Ile,benign
Q09428:p.Leu82Arg,benign
Q09428:p.Phe83Lys,benign
Q09428:p.Leu85Thr,benign
Q09428:p.Val86Ala,pathogenic
Q09428:p.Val86Arg,benign
Q09428:p.Cys87Arg,benign
Q09428:p.Glu88Arg,benign
Q09428:p.Ile89Ser,benign
Q09428:p.Ala90Asp,benign
Q09428:p.Glu91Pro,benign
Q09428:p.Ile93Ala,benign
Q09428:p.Ile93Val,benign
Q09428:p.Ser95Ala,benign
Q09428:p.Asp96Cys,benign
Q09428:p.Gly97Lys,benign
Q09428:p.His102Arg,benign
Q09428:p.Gly111Arg,pathogenic
Q09428:p.Ala116Pro,pathogenic
Q09428:p.Ala117Thr,benign
Q09428:p.Val118Ile,benign
Q09428:p.Val121Cys,benign
Q09428:p.Val122Ile,benign
Q09428:p.Val122Thr,benign
Q09428:p.Tyr123His,benign
Q09428:p.Tyr124Met,benign
Q09428:p.His125Met,benign
Q09428:p.His125Gln,pathogenic
Q09428:p.Asn126His,benign
Q09428:p.Ile127Thr,benign
Q09428:p.Glu128Arg,benign
Q09428:p.Thr129Leu,benign
Q09428:p.Ser130His,benign
Q09428:p.Asn131Asp,benign
Q09428:p.Asn131Gly,benign
Q09428:p.Phe132Leu,pathogenic
Q09428:p.Phe132Thr,benign
Q09428:p.Pro133Ser,benign
Q09428:p.Lys134Ser,benign
Q09428:p.Ile137Ala,benign
Q09428:p.Val141Ala,benign
Q09428:p.Val141Ile,benign
Q09428:p.Thr144Ile,benign
Q09428:p.Thr144Met,benign
Q09428:p.Ile148Val,benign
Q09428:p.Val155Ala,benign
Q09428:p.Leu158Ser,benign
Q09428:p.Leu158Tyr,benign
Q09428:p.Asp159Glu,benign
Q09428:p.Asp159His,benign
Q09428:p.Ala161Asp,benign
Q09428:p.Ala161Asn,benign
Q09428:p.Ala161Ser,benign
Q09428:p.Gly163Ser,benign
Q09428:p.Ile177Val,benign
Q09428:p.Met181Leu,benign
Q09428:p.Met181Thr,benign
Q09428:p.Val185Leu,benign
Q09428:p.Glu186Leu,benign
Q09428:p.Val187Asp,pathogenic
Q09428:p.Val187Ile,benign
Q09428:p.Val187Leu,benign
Q09428:p.Asn188Pro,benign
Q09428:p.Asn188Ser,pathogenic
Q09428:p.Ile190Leu,benign
Q09428:p.Val192Arg,benign
Q09428:p.Ile196Val,benign
Q09428:p.Phe197Leu,benign
Q09428:p.Thr200Met,benign
Q09428:p.Thr200Ser,benign
Q09428:p.Leu213Arg,pathogenic
Q09428:p.Met233Arg,pathogenic
Q09428:p.Ala235Thr,benign
Q09428:p.Lys242Arg,benign
Q09428:p.Ala249Val,benign
Q09428:p.Gln264Arg,benign
Q09428:p.Arg265Leu,benign
Q09428:p.Cys267Arg,benign
Q09428:p.Glu268Ala,benign
Q09428:p.Glu268Lys,benign
Q09428:p.Glu268Leu,benign
Q09428:p.Glu268Val,benign
Q09428:p.Phe270Cys,benign
Q09428:p.Asp271Glu,benign
Q09428:p.Ala272Thr,benign
Q09428:p.Val274Ala,benign
Q09428:p.Val274Glu,benign
Q09428:p.Val274Gly,benign
Q09428:p.Arg275Cys,benign
Q09428:p.Arg275Gln,benign
Q09428:p.Arg275Trp,benign
Q09428:p.Asp277Gly,benign
Q09428:p.Asp277Asn,benign
Q09428:p.Ile278Ala,benign
Q09428:p.Ile278Leu,benign
Q09428:p.Ile278Met,benign
Q09428:p.Ile278Ser,benign
Q09428:p.Ile278Thr,benign
Q09428:p.Ile278Val,benign
Q09428:p.Gln279Glu,benign
Q09428:p.Gly280Asn,benign
Q09428:p.Gly280Ser,benign
Q09428:p.Gly280Val,benign
Q09428:p.Thr281Ala,benign
Q09428:p.Thr281Ile,benign
Q09428:p.Thr281Met,benign
Q09428:p.Thr281Pro,benign
Q09428:p.Thr281Gln,benign
Q09428:p.Thr281Ser,benign
Q09428:p.Arg285Lys,benign
Q09428:p.Gln289Arg,benign
Q09428:p.Ser292Cys,benign
Q09428:p.Ser292Gly,benign
Q09428:p.His293Cys,benign
Q09428:p.His293Arg,benign
Q09428:p.Arg297Lys,benign
Q09428:p.Arg298Pro,benign
Q09428:p.Val300Ile,benign
Q09428:p.Asp310Asn,pathogenic
Q09428:p.Leu318Met,benign
Q09428:p.Asp325Gly,benign
Q09428:p.Gly328Arg,benign
Q09428:p.Asp332Gly,benign
Q09428:p.Asp332His,benign
Q09428:p.Asp332Gln,benign
Q09428:p.Asp332Arg,benign
Q09428:p.Asp332Ser,benign
Q09428:p.Val333Asp,benign
Q09428:p.Phe334Ser,benign
Q09428:p.Gln335His,benign
Q09428:p.Pro336Thr,benign
Q09428:p.Thr338Ile,benign
Q09428:p.Gln339Glu,benign
Q09428:p.Gln339Arg,benign
Q09428:p.Val343Ile,benign
Q09428:p.Tyr344Phe,benign
Q09428:p.Ala353Gly,benign
Q09428:p.Ala365Thr,benign
Q09428:p.Asn406Asp,pathogenic
Q09428:p.Glu411Asp,benign
Q09428:p.Gly415Ala,benign
Q09428:p.Gly415Ser,benign
Q09428:p.Cys418Arg,pathogenic
Q09428:p.Cys435Arg,pathogenic
Q09428:p.Val443Ala,benign
Q09428:p.Ile446Val,benign
Q09428:p.Gly448Ala,benign
Q09428:p.Val449Gly,benign
Q09428:p.Val458Ile,benign
Q09428:p.Leu469Val,benign
Q09428:p.Tyr491His,benign
Q09428:p.Glu494Asp,benign
Q09428:p.Arg495Gln,pathogenic
Q09428:p.Glu501Lys,pathogenic
Q09428:p.Leu503Pro,pathogenic
Q09428:p.Ile506Met,benign
Q09428:p.Ile506Val,benign
Q09428:p.Leu508Pro,pathogenic
Q09428:p.Asn516Ser,benign
Q09428:p.Arg519Cys,benign
Q09428:p.Thr520Ala,benign
Q09428:p.Thr520Lys,benign
Q09428:p.Thr520Ser,benign
Q09428:p.Arg521His,benign
Q09428:p.Arg521Leu,benign
Q09428:p.Glu523Asp,benign
Q09428:p.Thr524Glu,benign
Q09428:p.Thr524Ile,benign
Q09428:p.Thr524Lys,benign
Q09428:p.Thr524Leu,benign
Q09428:p.Thr524Met,benign
Q09428:p.Thr524Val,benign
Q09428:p.Arg527Glu,benign
Q09428:p.Arg527Lys,benign
Q09428:p.Arg534Lys,benign
Q09428:p.Ile538Val,benign
Q09428:p.Tyr539Cys,benign
Q09428:p.Pro551Arg,pathogenic
Q09428:p.Val560Met,benign
Q09428:p.Val563Ala,benign
Q09428:p.Lys567Arg,benign
Q09428:p.Glu568Gly,benign
Q09428:p.Glu568Gln,benign
Q09428:p.Ala569Ser,benign
Q09428:p.Phe571Leu,benign
Q09428:p.Leu582Val,pathogenic
Q09428:p.His584Tyr,benign
Q09428:p.Phe591Leu,pathogenic
Q09428:p.Val607Arg,benign
Q09428:p.Gln608Ala,benign
Q09428:p.Lys609Val,benign
Q09428:p.Leu610Cys,benign
Q09428:p.Ser611Lys,benign
Q09428:p.Glu612Ser,benign
Q09428:p.Phe613Ser,benign
Q09428:p.Leu614Val,benign
Q09428:p.Ala617Cys,benign
Q09428:p.Glu618Pro,benign
Q09428:p.Ile619Val,benign
Q09428:p.Arg620Cys,pathogenic
Q09428:p.Arg620His,benign
Q09428:p.Arg620Leu,benign
Q09428:p.Arg620Gln,benign
Q09428:p.Glu621Ala,benign
Q09428:p.Glu621Lys,benign
Q09428:p.Glu621Gln,benign
Q09428:p.Glu621Arg,benign
Q09428:p.Glu622Lys,benign
Q09428:p.Glu622Ser,benign
Q09428:p.Gln623Ser,benign
Q09428:p.Cys624Gly,benign
Q09428:p.Cys624Ser,benign
Q09428:p.Cys624Val,benign
Q09428:p.Ala625Pro,benign
Q09428:p.Ala625Thr,benign
Q09428:p.Ala625Val,benign
Q09428:p.Pro626Ala,benign
Q09428:p.Pro626Leu,benign
Q09428:p.His627Cys,benign
Q09428:p.His627Leu,benign
Q09428:p.His627Arg,benign
Q09428:p.His627Val,benign
Q09428:p.Glu628Ser,benign
Q09428:p.Thr630Ala,benign
Q09428:p.Thr630Glu,benign
Q09428:p.Thr630Met,benign
Q09428:p.Thr630Arg,benign
Q09428:p.Thr630Val,benign
Q09428:p.Pro631Ala,benign
Q09428:p.Gln632Gly,benign
Q09428:p.Gln632His,benign
Q09428:p.Gln632Arg,benign
Q09428:p.Gly633Ala,benign
Q09428:p.Gly633Ser,benign
Q09428:p.Pro634His,benign
Q09428:p.Pro634Gln,benign
Q09428:p.Ala635Asp,benign
Q09428:p.Ala635Pro,benign
Q09428:p.Ala635Thr,benign
Q09428:p.Ala635Val,benign
Q09428:p.Ser636Ala,benign
Q09428:p.Ser636Gly,benign
Q09428:p.Ser636Asn,benign
Q09428:p.Ser636Arg,benign
Q09428:p.Lys637Ser,benign
Q09428:p.Tyr638Thr,benign
Q09428:p.Gln639Pro,benign
Q09428:p.Gln639Arg,benign
Q09428:p.Ala640Gln,benign
Q09428:p.Ala640Thr,benign
Q09428:p.Val641Leu,benign
Q09428:p.Val641Trp,benign
Q09428:p.Arg644Lys,benign
Q09428:p.Arg650Cys,benign
Q09428:p.Arg650His,benign
Q09428:p.Ala652Thr,benign
Q09428:p.Ala652Val,benign
Q09428:p.Arg653Trp,benign
Q09428:p.Asp655Glu,benign
Q09428:p.Cys656Gly,benign
Q09428:p.Cys656Asn,benign
Q09428:p.Cys656Arg,benign
Q09428:p.Cys656Val,benign
Q09428:p.Arg657Leu,benign
Q09428:p.Arg657Gln,benign
Q09428:p.Arg657Trp,benign
Q09428:p.Gly658Asp,benign
Q09428:p.Gly658Glu,benign
Q09428:p.Gly658Asn,benign
Q09428:p.Gly658Ser,benign
Q09428:p.Leu659Phe,benign
Q09428:p.Leu659Ile,benign
Q09428:p.Leu659Pro,benign
Q09428:p.Thr660Glu,benign
Q09428:p.Thr660Leu,benign
Q09428:p.Thr660Met,benign
Q09428:p.Thr660Pro,benign
Q09428:p.Thr660Val,benign
Q09428:p.Gly661Ala,benign
Q09428:p.Gly661Asp,benign
Q09428:p.Gly661Asn,benign
Q09428:p.Gly661Gln,benign
Q09428:p.Gly661Ser,benign
Q09428:p.Pro662Ala,benign
Q09428:p.Pro662Gly,benign
Q09428:p.Pro662Ser,benign
Q09428:p.Leu663Pro,benign
Q09428:p.Gln664Lys,benign
Q09428:p.Ser665Cys,benign
Q09428:p.Ser665Gly,benign
Q09428:p.Ser665Met,benign
Q09428:p.Ser665Asn,benign
Q09428:p.Ser665Arg,benign
Q09428:p.Val667Ala,benign
Q09428:p.Val667Thr,benign
Q09428:p.Pro668Ala,benign
Q09428:p.Pro668His,benign
Q09428:p.Ser669Gly,benign
Q09428:p.Ser669Asn,benign
Q09428:p.Ser669Arg,benign
Q09428:p.Ala670Gly,benign
Q09428:p.Ala670Met,benign
Q09428:p.Ala670Ser,benign
Q09428:p.Ala670Thr,benign
Q09428:p.Ala670Val,benign
Q09428:p.Asp671Glu,benign
Q09428:p.Gly672Arg,benign
Q09428:p.Asp673Glu,benign
Q09428:p.Asp673Asn,benign
Q09428:p.Asp673Val,benign
Q09428:p.Ala674Thr,benign
Q09428:p.Ala674Val,benign
Q09428:p.Asp675Glu,benign
Q09428:p.Asn676Ser,benign
Q09428:p.Cys677Phe,benign
Q09428:p.Cys677Ser,benign
Q09428:p.Cys677Trp,benign
Q09428:p.Cys677Tyr,benign
Q09428:p.Met682Ile,benign
Q09428:p.Met682Thr,benign
Q09428:p.Gly683Ser,benign
Q09428:p.Tyr685Phe,benign
Q09428:p.Phe686Ser,pathogenic
Q09428:p.Thr689Ile,benign
Q09428:p.Thr689Ser,benign
Q09428:p.Asp691Asn,benign
Q09428:p.Asp691Tyr,benign
Q09428:p.Ile693Leu,benign
Q09428:p.Ile693Met,benign
Q09428:p.Ile693Val,benign
Q09428:p.Ile699Val,benign
Q09428:p.Arg702Cys,benign
Q09428:p.Arg702His,benign
Q09428:p.Ile703Val,benign
Q09428:p.Arg705Gln,benign
Q09428:p.Gly716Val,pathogenic
Q09428:p.Lys719Thr,pathogenic
Q09428:p.Ala726Thr,benign
Q09428:p.Lys732Arg,benign
Q09428:p.Val733Ile,benign
Q09428:p.Val733Leu,benign
Q09428:p.Ala736Gly,benign
Q09428:p.Ala736Thr,benign
Q09428:p.Ala736Val,benign
Q09428:p.Val737Ile,benign
Q09428:p.Ser741Asn,benign
Q09428:p.Leu742Phe,benign
Q09428:p.Leu742Met,benign
Q09428:p.Pro743His,benign
Q09428:p.Asp744Glu,benign
Q09428:p.Ser745Gly,benign
Q09428:p.Glu746Ser,benign
Q09428:p.Ile747Met,benign
Q09428:p.Ile747Pro,benign
Q09428:p.Ile747Thr,benign
Q09428:p.Gly748Cys,benign
Q09428:p.Glu749Asp,benign
Q09428:p.Glu749Ser,benign
Q09428:p.Asp750Glu,benign
Q09428:p.Pro751Ala,benign
Q09428:p.Pro751His,benign
Q09428:p.Pro751Asn,benign
Q09428:p.Ser752Glu,benign
Q09428:p.Ser752Ile,benign
Q09428:p.Ser752Asn,benign
Q09428:p.Pro753Leu,benign
Q09428:p.Pro753Gln,benign
Q09428:p.Pro753Thr,benign
Q09428:p.Pro753Val,benign
Q09428:p.Arg755Gln,benign
Q09428:p.Arg755Ser,benign
Q09428:p.Arg755Trp,benign
Q09428:p.Glu756Arg,benign
Q09428:p.Thr757Phe,benign
Q09428:p.Thr757Pro,benign
Q09428:p.Ala758Cys,benign
Q09428:p.Ala758Gly,benign
Q09428:p.Ala758Ser,benign
Q09428:p.Ala758Val,benign
Q09428:p.Thr759Ala,benign
Q09428:p.Thr759Ser,benign
Q09428:p.Thr759Val,benign
Q09428:p.Asp760Ala,benign
Q09428:p.Asp760Glu,benign
Q09428:p.Asp760Gly,benign
Q09428:p.Asp760Asn,benign
Q09428:p.Asp760Tyr,benign
Q09428:p.Leu761Ala,benign
Q09428:p.Leu761Ile,benign
Q09428:p.Leu761Met,benign
Q09428:p.Leu761Pro,benign
Q09428:p.Leu761Ser,benign
Q09428:p.Leu761Thr,benign
Q09428:p.Asp762Glu,benign
Q09428:p.Asp762Pro,benign
Q09428:p.Ile763Ala,benign
Q09428:p.Ile763Asp,benign
Q09428:p.Ile763Thr,benign
Q09428:p.Ile763Val,benign
Q09428:p.Lys765Ser,benign
Q09428:p.Ile788Thr,benign
Q09428:p.Ser791Gly,benign
Q09428:p.Pro792Thr,benign
Q09428:p.Met800Ala,benign
Q09428:p.Met800Thr,benign
Q09428:p.Glu803Lys,benign
Q09428:p.Ile811Val,benign
Q09428:p.Arg834His,benign
Q09428:p.Arg841Gly,pathogenic
Q09428:p.His846Gln,benign
Q09428:p.Ala847Thr,benign
Q09428:p.Asn848His,benign
Q09428:p.Asn848Ser,benign
Q09428:p.Val849Ile,benign
Q09428:p.Val850Ile,benign
Q09428:p.Ile861Val,benign
Q09428:p.Ala870Val,benign
Q09428:p.Glu874Asp,benign
Q09428:p.Leu875Met,benign
Q09428:p.Arg877Gln,benign
Q09428:p.Lys880Asn,benign
Q09428:p.Lys880Arg,benign
Q09428:p.Arg881Ser,benign
Q09428:p.Lys889Thr,pathogenic
Q09428:p.Gln891His,benign
Q09428:p.Ser919Cys,benign
Q09428:p.Cys921Ser,benign
Q09428:p.Thr942Ile,benign
Q09428:p.Val943Ile,benign
Q09428:p.Val943Thr,benign
Q09428:p.Thr944Met,benign
Q09428:p.Thr944Val,benign
Q09428:p.Lys947Arg,benign
Q09428:p.Ala948Asn,benign
Q09428:p.Ala948Thr,benign
Q09428:p.Ala948Val,benign
Q09428:p.Thr949Ala,benign
Q09428:p.Thr949Pro,benign
Q09428:p.Thr949Ser,benign
Q09428:p.Glu950Asp,benign
Q09428:p.Glu950Gly,benign
Q09428:p.Pro951Ser,benign
Q09428:p.Pro952His,benign
Q09428:p.Pro952Ser,benign
Q09428:p.Gln953Lys,benign
Q09428:p.Gln953Pro,benign
Q09428:p.Gly954Ser,benign
Q09428:p.Ser956Ala,benign
Q09428:p.Ser956Phe,pathogenic
Q09428:p.Ser956Pro,benign
Q09428:p.Arg957His,benign
Q09428:p.Ala958Thr,benign
Q09428:p.Met959Leu,benign
Q09428:p.Met959Val,benign
Q09428:p.Arg962Lys,benign
Q09428:p.Arg962Ser,benign
Q09428:p.Leu965Phe,benign
Q09428:p.Gln967Leu,benign
Q09428:p.Glu970Asp,benign
Q09428:p.Ala976Gly,benign
Q09428:p.Ala976Met,benign
Q09428:p.Ala976Thr,benign
Q09428:p.Ala976Val,benign
Q09428:p.Glu980Asp,benign
Q09428:p.Asp982Glu,benign
Q09428:p.Asn984Asp,benign
Q09428:p.Asn984Ser,benign
Q09428:p.Met988Leu,benign
Q09428:p.Met988Val,benign
Q09428:p.Glu994Lys,benign
Q09428:p.Arg998Gln,benign
Q09428:p.Ala1001Thr,benign
Q09428:p.Lys1002Asn,benign
Q09428:p.Ile1009Ala,benign
Q09428:p.Ile1009Thr,benign
Q09428:p.Ile1009Val,benign
Q09428:p.Leu1010Phe,benign
Q09428:p.Val1016Gly,benign
Q09428:p.Val1016Ile,benign
Q09428:p.Phe1017Leu,benign
Q09428:p.His1023Tyr,pathogenic
Q09428:p.Ala1028Gly,benign
Q09428:p.Ser1039Asn,benign
Q09428:p.Ala1040Ser,benign
Q09428:p.Ala1040Val,benign
Q09428:p.Leu1041Met,benign
Q09428:p.Thr1042Ile,benign
Q09428:p.Thr1042Ser,benign
Q09428:p.Thr1042Val,benign
Q09428:p.Leu1043Pro,benign
Q09428:p.Leu1043Val,benign
Q09428:p.Thr1044Asn,benign
Q09428:p.Thr1044Ser,benign
Q09428:p.Pro1045Leu,benign
Q09428:p.Ala1046Leu,benign
Q09428:p.Ala1046Met,benign
Q09428:p.Ala1046Thr,benign
Q09428:p.Ala1046Val,benign
Q09428:p.Ala1047Ser,benign
Q09428:p.Ala1047Thr,benign
Q09428:p.Ala1047Val,benign
Q09428:p.Arg1048Gly,benign
Q09428:p.Arg1048Ser,benign
Q09428:p.Ser1053Cys,benign
Q09428:p.Thr1057Ala,benign
Q09428:p.Thr1057Asp,benign
Q09428:p.Thr1057Glu,benign
Q09428:p.Thr1057Ile,benign
Q09428:p.Thr1057Pro,benign
Q09428:p.Thr1057Ser,benign
Q09428:p.Asp1059Asn,benign
Q09428:p.Gln1060Arg,benign
Q09428:p.Thr1061Ser,benign
Q09428:p.Val1062Gly,benign
Q09428:p.Val1062Ile,benign
Q09428:p.Met1065Thr,benign
Q09428:p.Val1069Leu,benign
Q09428:p.Val1076Ala,benign
Q09428:p.Val1076Met,benign
Q09428:p.Val1080Ile,benign
Q09428:p.Val1083Ile,benign
Q09428:p.Arg1095Lys,benign
Q09428:p.Arg1095Ser,benign
Q09428:p.Arg1098Cys,benign
Q09428:p.Asn1102Ser,benign
Q09428:p.Asn1102Thr,benign
Q09428:p.Arg1103Gln,benign
Q09428:p.Ser1126Ala,benign
Q09428:p.Thr1130Ile,benign
Q09428:p.Thr1130Pro,pathogenic
Q09428:p.Ile1131Val,benign
Q09428:p.His1134Tyr,benign
Q09428:p.Ser1137Ala,benign
Q09428:p.Thr1138Met,pathogenic
Q09428:p.Leu1147Arg,pathogenic
Q09428:p.Val1150Phe,benign
Q09428:p.Leu1153Val,benign
Q09428:p.Ala1154Gly,benign
Q09428:p.Ala1154Thr,benign
Q09428:p.Val1162Met,benign
Q09428:p.Leu1168Phe,benign
Q09428:p.Ile1172Val,benign
Q09428:p.Val1173Ala,benign
Q09428:p.Val1173Met,benign
Q09428:p.Cys1174Gly,benign
Q09428:p.Arg1182Gln,pathogenic
Q09428:p.Val1183Leu,benign
Q09428:p.Thr1194Ile,benign
Q09428:p.Ala1204Gly,benign
Q09428:p.Thr1211Ile,benign
Q09428:p.Arg1214Gln,pathogenic
Q09428:p.Arg1214Trp,pathogenic
Q09428:p.Ala1220Ser,benign
Q09428:p.Ala1220Thr,benign
Q09428:p.Arg1221Lys,benign
Q09428:p.Gln1224Lys,benign
Q09428:p.Lys1225Arg,benign
Q09428:p.Asn1233Lys,benign
Q09428:p.Glu1252Ala,benign
Q09428:p.Val1264Ala,benign
Q09428:p.Arg1273Lys,benign
Q09428:p.Glu1274Asp,benign
Q09428:p.Glu1274Gly,benign
Q09428:p.Val1290Ile,benign
Q09428:p.Asn1295Lys,pathogenic
Q09428:p.Met1297Leu,benign
Q09428:p.Leu1306Ile,benign
Q09428:p.Leu1308Met,benign
Q09428:p.Gly1316Ala,benign
Q09428:p.Gly1316Thr,benign
Q09428:p.Lys1319Asn,benign
Q09428:p.Ser1324Asn,benign
Q09428:p.Ser1324Arg,benign
Q09428:p.Glu1326Asp,benign
Q09428:p.Leu1329Met,benign
Q09428:p.Ala1330Glu,benign
Q09428:p.Lys1336Asn,pathogenic
Q09428:p.Lys1336Gln,benign
Q09428:p.Gln1341Arg,benign
Q09428:p.Gly1342Glu,pathogenic
Q09428:p.Leu1349Gln,pathogenic
Q09428:p.Arg1352His,pathogenic
Q09428:p.Arg1352Pro,pathogenic
Q09428:p.Lys1358Arg,benign
Q09428:p.Val1360Ala,benign
Q09428:p.Val1360Met,pathogenic
Q09428:p.Lys1362Arg,benign
Q09428:p.Leu1367Val,benign
Q09428:p.Ala1369Ser,benign
Q09428:p.Gly1378Arg,pathogenic
Q09428:p.Arg1379Cys,pathogenic
Q09428:p.Gly1381Ser,pathogenic
Q09428:p.Lys1384Gln,pathogenic
Q09428:p.Ser1386Phe,pathogenic
Q09428:p.Arg1393His,pathogenic
Q09428:p.Thr1397Met,benign
Q09428:p.Thr1397Val,benign
Q09428:p.Phe1398Cys,benign
Q09428:p.Gly1400Arg,pathogenic
Q09428:p.His1401Arg,benign
Q09428:p.Lys1411Arg,benign
Q09428:p.His1415Asn,benign
Q09428:p.Arg1418His,pathogenic
Q09428:p.Arg1420Cys,pathogenic
Q09428:p.Ile1424Val,pathogenic
Q09428:p.Asp1427Glu,benign
Q09428:p.Arg1436Gln,pathogenic
Q09428:p.Arg1443Lys,benign
Q09428:p.Thr1449Met,benign
Q09428:p.Leu1450Pro,pathogenic
Q09428:p.Ala1457Thr,pathogenic
Q09428:p.Leu1461Pro,benign
Q09428:p.Leu1461Gln,benign
Q09428:p.Ala1465Ser,benign
Q09428:p.Asp1471His,pathogenic
Q09428:p.Asp1471Asn,pathogenic
Q09428:p.Ile1474Val,benign
Q09428:p.Gly1478Arg,pathogenic
Q09428:p.Arg1486Lys,pathogenic
Q09428:p.Arg1493Gln,pathogenic
Q09428:p.Arg1493Trp,pathogenic
Q09428:p.Glu1506Lys,pathogenic
Q09428:p.Leu1543Pro,pathogenic
Q09428:p.Ser1544Thr,benign
Q09428:p.Leu1547Met,benign
Q09428:p.Ile1549Met,benign
Q09428:p.Val1550Asp,pathogenic
Q09428:p.Leu1551Val,pathogenic
Q09428:p.Ala1555Thr,benign
Q09428:p.Phe1559Leu,benign
Q09428:p.Lys1561Glu,benign
Q09428:p.Lys1561Thr,benign
Q09428:p.Lys1564Asn,benign
Q09428:p.Lys1564Thr,benign
Q09428:p.Ser1567Ile,benign
Q09428:p.Arg1568Gln,benign
Q09428:p.Lys1569Glu,benign
Q09428:p.Lys1569Asn,benign
Q09428:p.Lys1569Ser,benign
Q09428:p.Val1572Ile,benign
Q09428:p.Arg1578His,benign
P10253:p.Gly2Arg,benign
P10253:p.Pro7Leu,benign
P10253:p.His10Arg,benign
P10253:p.Val15Ile,benign
P10253:p.Cys16Tyr,benign
P10253:p.Ala25Val,benign
P10253:p.Leu37Arg,benign
P10253:p.Leu37Val,benign
P10253:p.Ser46Pro,pathogenic
P10253:p.Pro47Leu,benign
P10253:p.Pro47Ser,benign
P10253:p.Thr52Ala,benign
P10253:p.His53Arg,benign
P10253:p.His56Arg,benign
P10253:p.Ser61Arg,benign
P10253:p.Arg66Gln,benign
P10253:p.Asp67Asn,benign
P10253:p.Pro72Leu,benign
P10253:p.Arg74Cys,benign
P10253:p.Val84Ile,benign
P10253:p.Gln100Arg,benign
P10253:p.Cys103Gly,pathogenic
P10253:p.Cys103Arg,pathogenic
P10253:p.Glu104Asp,benign
P10253:p.Cys108Gly,pathogenic
P10253:p.Gly116Glu,benign
P10253:p.Gln118Arg,benign
P10253:p.Gln118Trp,benign
P10253:p.Gly119Arg,benign
P10253:p.Ala120Thr,benign
P10253:p.Pro125Ser,benign
P10253:p.Cys127Phe,pathogenic
P10253:p.Ser143Ala,benign
P10253:p.Ser143Thr,benign
P10253:p.Thr149Met,benign
P10253:p.Arg189Lys,benign
P10253:p.Arg190His,pathogenic
P10253:p.Tyr191Cys,pathogenic
P10253:p.His199Arg,benign
P10253:p.His201Pro,benign
P10253:p.Pro205Leu,benign
P10253:p.Pro205Val,benign
P10253:p.Leu208Pro,pathogenic
P10253:p.Glu215Lys,benign
P10253:p.Pro217Leu,pathogenic
P10253:p.Gly219Arg,pathogenic
P10253:p.Arg224Pro,pathogenic
P10253:p.Arg224Gln,pathogenic
P10253:p.Arg224Trp,pathogenic
P10253:p.Arg229His,benign
P10253:p.Thr234Lys,pathogenic
P10253:p.Thr234Arg,pathogenic
P10253:p.Ala237Val,pathogenic
P10253:p.Ser251Leu,pathogenic
P10253:p.Ser254Leu,pathogenic
P10253:p.Glu262Lys,pathogenic
P10253:p.Pro266Ser,pathogenic
P10253:p.Ile276Val,benign
P10253:p.Pro285Arg,pathogenic
P10253:p.Pro285Ser,pathogenic
P10253:p.Leu291Phe,pathogenic
P10253:p.Leu291Pro,pathogenic
P10253:p.Tyr292Cys,pathogenic
P10253:p.Gly293Arg,pathogenic
P10253:p.Leu299Arg,pathogenic
P10253:p.His308Leu,pathogenic
P10253:p.His308Pro,pathogenic
P10253:p.Gly309Arg,pathogenic
P10253:p.Leu312Arg,pathogenic
P10253:p.Asn316Ile,pathogenic
P10253:p.Met318Lys,pathogenic
P10253:p.Met318Thr,pathogenic
P10253:p.Pro324Leu,pathogenic
P10253:p.Ser329Thr,benign
P10253:p.Trp330Gly,pathogenic
P10253:p.Gly335Glu,pathogenic
P10253:p.Gly335Arg,pathogenic
P10253:p.Pro347Arg,pathogenic
P10253:p.Gln352Arg,benign
P10253:p.Leu355Pro,pathogenic
P10253:p.Asp356Glu,benign
P10253:p.Pro361Leu,pathogenic
P10253:p.Cys374Arg,pathogenic
P10253:p.Arg375Leu,pathogenic
P10253:p.Gly377Arg,pathogenic
P10253:p.Arg385Ser,benign
P10253:p.Pro397Leu,pathogenic
P10253:p.Gln401Arg,pathogenic
P10253:p.Trp402Arg,pathogenic
P10253:p.Asp404Asn,pathogenic
P10253:p.Leu405Pro,pathogenic
P10253:p.Met408Val,pathogenic
P10253:p.Ser410Ala,benign
P10253:p.Ser410Thr,benign
P10253:p.Asp419Val,pathogenic
P10253:p.Phe424Leu,benign
P10253:p.Gln429Arg,benign
P10253:p.Gln433His,benign
P10253:p.Arg437Cys,pathogenic
P10253:p.Met439Val,benign
P10253:p.Ala445Pro,pathogenic
P10253:p.Tyr455Phe,pathogenic
P10253:p.Pro457His,pathogenic
P10253:p.Pro457Leu,pathogenic
P10253:p.Gly465Ala,benign
P10253:p.Gly473Ser,benign
P10253:p.Gly478Arg,pathogenic
P10253:p.Lys479Gln,benign
P10253:p.Trp481Arg,pathogenic
P10253:p.Pro482Arg,pathogenic
P10253:p.Gly483Val,pathogenic
P10253:p.Ala486Pro,pathogenic
P10253:p.Asp489Asn,pathogenic
P10253:p.Thr494Ala,benign
P10253:p.Ala495Thr,benign
P10253:p.Asp508Glu,benign
P10253:p.Ile517Leu,benign
P10253:p.Met519Thr,pathogenic
P10253:p.Met519Val,pathogenic
P10253:p.Glu521Lys,pathogenic
P10253:p.Glu521Gln,pathogenic
P10253:p.Pro522Ala,pathogenic
P10253:p.Pro522Ser,pathogenic
P10253:p.Ser523Tyr,pathogenic
P10253:p.Phe525Tyr,pathogenic
P10253:p.Ser529Val,pathogenic
P10253:p.Asn535Asp,benign
P10253:p.Asn535His,benign
P10253:p.Asn540Glu,benign
P10253:p.Asn540Lys,benign
P10253:p.Pro545Leu,pathogenic
P10253:p.Gly549Arg,pathogenic
P10253:p.Leu552Pro,pathogenic
P10253:p.Ile557Phe,pathogenic
P10253:p.Cys558Ser,pathogenic
P10253:p.Ser566Pro,pathogenic
P10253:p.His568Leu,pathogenic
P10253:p.Asn570Lys,pathogenic
P10253:p.His572Gln,pathogenic
P10253:p.Tyr575Cys,pathogenic
P10253:p.Tyr575Ser,pathogenic
P10253:p.Gly576Arg,pathogenic
P10253:p.Glu579Lys,pathogenic
P10253:p.His584Tyr,benign
P10253:p.Arg585Met,pathogenic
P10253:p.Arg594His,pathogenic
P10253:p.Arg594Pro,pathogenic
P10253:p.Ser599Tyr,pathogenic
P10253:p.Arg600Cys,pathogenic
P10253:p.Arg600His,pathogenic
P10253:p.Ser601Leu,pathogenic
P10253:p.Thr602Ala,pathogenic
P10253:p.Gly607Asp,pathogenic
P10253:p.Ala610Val,pathogenic
P10253:p.His612Gln,pathogenic
P10253:p.His612Tyr,pathogenic
P10253:p.Thr614Lys,pathogenic
P10253:p.Gly615Arg,pathogenic
P10253:p.Ser619Arg,pathogenic
P10253:p.Ser626Ala,benign
P10253:p.Ser627Pro,pathogenic
P10253:p.Asn635Lys,pathogenic
P10253:p.Gly638Val,pathogenic
P10253:p.Gly638Trp,pathogenic
P10253:p.Gly643Arg,pathogenic
P10253:p.Asp645Glu,pathogenic
P10253:p.Asp645His,pathogenic
P10253:p.Asp645Asn,pathogenic
P10253:p.Cys647Trp,pathogenic
P10253:p.Gly648Asp,pathogenic
P10253:p.Gly648Ser,pathogenic
P10253:p.Arg660His,pathogenic
P10253:p.Arg672Gln,pathogenic
P10253:p.Arg672Thr,pathogenic
P10253:p.Arg672Trp,pathogenic
P10253:p.Ser676Gly,benign
P10253:p.Leu678Phe,benign
P10253:p.Ser679Asn,benign
P10253:p.Glu689Lys,benign
P10253:p.Arg702Cys,pathogenic
P10253:p.Arg702Leu,pathogenic
P10253:p.Arg725Trp,pathogenic
P10253:p.Lys733Glu,benign
P10253:p.Thr737Asn,pathogenic
P10253:p.Gln743Lys,pathogenic
P10253:p.Trp746Gly,pathogenic
P10253:p.Trp746Ser,pathogenic
P10253:p.Tyr766Cys,pathogenic
P10253:p.Pro768Arg,pathogenic
P10253:p.Leu769Ser,benign
P10253:p.Thr771Ile,benign
P10253:p.Gln776Glu,benign
P10253:p.Val780Ile,benign
P10253:p.Arg819Pro,pathogenic
P10253:p.Tyr822His,benign
P10253:p.Lys849Thr,benign
P10253:p.Arg854Gln,benign
P10253:p.Tyr873His,benign
P10253:p.Ile877Leu,benign
P10253:p.Ala880Asp,pathogenic
P10253:p.Asn882Ser,benign
P10253:p.Ile885Val,benign
P10253:p.Val886Met,benign
P10253:p.Arg891His,benign
P10253:p.Leu901Gln,pathogenic
P10253:p.Gln902Arg,benign
P10253:p.Ala912Thr,benign
P10253:p.Pro913Arg,pathogenic
P10253:p.Val916Phe,pathogenic
P10253:p.Leu917Ile,benign
P10253:p.Asn919Ser,benign
P10253:p.Val921Ala,benign
P10253:p.Leu935Pro,pathogenic
P10253:p.Cys938His,benign
P10253:p.Cys938Pro,benign
P10253:p.Cys938Arg,benign
P10253:p.Met943Val,benign
P10253:p.Gly944Ala,benign
P10253:p.Val949Asp,pathogenic
P10253:p.Val949Ile,benign
P10253:p.Cys952Ser,benign
P49768:p.Leu8Val,benign
P49768:p.Thr25Ile,benign
P49768:p.Val26Ala,benign
P49768:p.Asp31Glu,benign
P49768:p.Asn32Ile,benign
P49768:p.Asn32Ser,benign
P49768:p.Glu34Asp,benign
P49768:p.Arg35Gln,benign
P49768:p.Glu37Asp,benign
P49768:p.His38Cys,benign
P49768:p.His38Gln,benign
P49768:p.Asn39Glu,benign
P49768:p.Asn39Gly,benign
P49768:p.Asn39Ser,benign
P49768:p.Asp40Glu,benign
P49768:p.Asp40His,benign
P49768:p.Arg41Ser,benign
P49768:p.Arg42Gln,benign
P49768:p.Ser43Arg,benign
P49768:p.Leu44His,benign
P49768:p.Leu44Pro,benign
P49768:p.Leu44Arg,benign
P49768:p.Leu44Val,benign
P49768:p.His46Asn,benign
P49768:p.His46Pro,benign
P49768:p.His46Thr,benign
P49768:p.Leu50Ile,benign
P49768:p.Leu50Val,benign
P49768:p.Arg54Gln,benign
P49768:p.Pro55Ala,benign
P49768:p.Asn58Ser,benign
P49768:p.Ser59Thr,benign
P49768:p.Arg60Gly,benign
P49768:p.Arg60Gln,benign
P49768:p.Gln61Pro,benign
P49768:p.Val62Ile,benign
P49768:p.Gln65Arg,benign
P49768:p.Asp66Glu,benign
P49768:p.Glu69Asp,benign
P49768:p.Ala79Val,pathogenic
P49768:p.Val82Leu,pathogenic
P49768:p.Cys92Ser,pathogenic
P49768:p.Val96Phe,pathogenic
P49768:p.Phe105Leu,pathogenic
P49768:p.Arg108Pro,benign
P49768:p.Gly111Glu,benign
P49768:p.Leu113Pro,pathogenic
P49768:p.Tyr115Cys,pathogenic
P49768:p.Tyr115His,pathogenic
P49768:p.Thr116Asn,pathogenic
P49768:p.Pro117Leu,pathogenic
P49768:p.Glu120Asp,pathogenic
P49768:p.Glu120Lys,pathogenic
P49768:p.His131Asn,benign
P49768:p.Ile133Val,benign
P49768:p.Asn135Asp,pathogenic
P49768:p.Met139Ile,pathogenic
P49768:p.Met139Lys,pathogenic
P49768:p.Met139Thr,pathogenic
P49768:p.Met139Val,pathogenic
P49768:p.Ile143Phe,pathogenic
P49768:p.Ile143Thr,pathogenic
P49768:p.Val145Ile,benign
P49768:p.Met146Ile,pathogenic
P49768:p.Met146Leu,pathogenic
P49768:p.Met146Val,pathogenic
P49768:p.Thr147Ile,pathogenic
P49768:p.His163Arg,pathogenic
P49768:p.His163Tyr,pathogenic
P49768:p.Ala164Gly,benign
P49768:p.Trp165Cys,pathogenic
P49768:p.Leu166Pro,pathogenic
P49768:p.Ile168Val,benign
P49768:p.Ser169Leu,pathogenic
P49768:p.Ser169Pro,pathogenic
P49768:p.Leu171Pro,pathogenic
P49768:p.Leu173Trp,pathogenic
P49768:p.Leu174Met,pathogenic
P49768:p.Ile180Lys,benign
P49768:p.Tyr181Asn,benign
P49768:p.Val193Met,benign
P49768:p.Leu201Met,benign
P49768:p.Gly206Ala,pathogenic
P49768:p.Gly209Arg,pathogenic
P49768:p.Gly209Val,pathogenic
P49768:p.Ser212Ala,benign
P49768:p.Ile213Thr,pathogenic
P49768:p.His214Tyr,pathogenic
P49768:p.Leu219Pro,pathogenic
P49768:p.Ala231Thr,pathogenic
P49768:p.Ala231Val,pathogenic
P49768:p.Met233Leu,pathogenic
P49768:p.Met233Thr,pathogenic
P49768:p.Ala246Glu,pathogenic
P49768:p.Leu250Ser,pathogenic
P49768:p.Val255Ile,benign
P49768:p.Ala260Val,pathogenic
P49768:p.Leu262Phe,pathogenic
P49768:p.Leu262Val,pathogenic
P49768:p.Cys263Arg,pathogenic
P49768:p.Pro264Leu,pathogenic
P49768:p.Gly266Ser,pathogenic
P49768:p.Pro267Ser,pathogenic
P49768:p.Pro267Thr,pathogenic
P49768:p.Arg269Gly,pathogenic
P49768:p.Arg269His,pathogenic
P49768:p.Leu271Val,pathogenic
P49768:p.Arg278Thr,pathogenic
P49768:p.Glu280Ala,pathogenic
P49768:p.Glu280Gly,pathogenic
P49768:p.Leu282Arg,pathogenic
P49768:p.Ala285Val,pathogenic
P49768:p.Leu286Val,pathogenic
P49768:p.Ser289Cys,pathogenic
P49768:p.Val293Met,benign
P49768:p.Asp302Gly,benign
P49768:p.Glu304Gly,benign
P49768:p.Lys311Arg,benign
P49768:p.Asn312Ser,benign
P49768:p.Ser313Thr,benign
P49768:p.Lys314Asn,benign
P49768:p.Asn316Ser,benign
P49768:p.Ala317Thr,benign
P49768:p.Glu318Gln,benign
P49768:p.Ser319Gly,benign
P49768:p.Ser319Asn,benign
P49768:p.Thr320Ala,benign
P49768:p.Arg322Asn,benign
P49768:p.Ser324Ala,benign
P49768:p.Ser324Pro,benign
P49768:p.Gln325His,benign
P49768:p.Asp326Ala,benign
P49768:p.Asp326Asn,benign
P49768:p.Thr327Ala,benign
P49768:p.Thr327Ser,benign
P49768:p.Val328Gly,benign
P49768:p.Ala329Pro,benign
P49768:p.Ala329Arg,benign
P49768:p.Ala329Thr,benign
P49768:p.Asn331Ser,benign
P49768:p.Asp333Gly,pathogenic
P49768:p.Asp333Asn,benign
P49768:p.Ser337Asn,benign
P49768:p.His347Gln,benign
P49768:p.Arg352Gln,benign
P49768:p.Pro355Ala,benign
P49768:p.Pro355Leu,benign
P49768:p.Pro355Ser,benign
P49768:p.Glu356Val,benign
P49768:p.Val361Ala,benign
P49768:p.Glu363Asp,benign
P49768:p.Leu364Ile,benign
P49768:p.Ser365Pro,benign
P49768:p.Ser366Asn,benign
P49768:p.Ser367Asn,benign
P49768:p.Ile368Met,benign
P49768:p.Ile368Thr,benign
P49768:p.Ile368Val,benign
P49768:p.Leu369Pro,benign
P49768:p.Leu369Gln,benign
P49768:p.Ala370Pro,benign
P49768:p.Ala370Thr,benign
P49768:p.Gly371Ser,benign
P49768:p.Gly378Glu,pathogenic
P49768:p.Gly384Ala,pathogenic
P49768:p.Ile387Val,benign
P49768:p.Ser390Ile,pathogenic
P49768:p.Leu392Val,pathogenic
P49768:p.Ala398Val,benign
P49768:p.Asn405Ser,pathogenic
P49768:p.Ala409Thr,pathogenic
P49768:p.Cys410Tyr,pathogenic
P49768:p.Ala426Pro,pathogenic
P49768:p.Phe428Cys,benign
P49768:p.Ala431Glu,pathogenic
P49768:p.Pro436Gln,pathogenic
P49768:p.Pro436Ser,pathogenic
P49768:p.Phe447Ser,benign
P02545:p.Ala9Pro,benign
P02545:p.Ala9Thr,benign
P02545:p.Ser12Gly,benign
P02545:p.Ser12Thr,benign
P02545:p.Gln15Pro,benign
P02545:p.Ala16Gly,benign
P02545:p.Ala16Ser,benign
P02545:p.Ala16Thr,benign
P02545:p.Ser17Gly,benign
P02545:p.Ser17Thr,benign
P02545:p.Thr19Ser,benign
P02545:p.Leu21Ala,benign
P02545:p.Arg25Gly,pathogenic
P02545:p.Arg25Pro,pathogenic
P02545:p.Arg28Trp,pathogenic
P02545:p.Glu33Gly,pathogenic
P02545:p.Leu35Val,pathogenic
P02545:p.Asn39Ser,pathogenic
P02545:p.Ala43Thr,pathogenic
P02545:p.Val44Ile,benign
P02545:p.Tyr45Cys,pathogenic
P02545:p.Arg50Pro,pathogenic
P02545:p.Arg50Ser,pathogenic
P02545:p.Ala57Pro,pathogenic
P02545:p.Leu59Arg,pathogenic
P02545:p.Arg60Gly,pathogenic
P02545:p.Arg62Gly,pathogenic
P02545:p.Ile63Asn,pathogenic
P02545:p.Ile63Ser,pathogenic
P02545:p.Glu65Gly,pathogenic
P02545:p.Val69Gly,benign
P02545:p.Ala79Ser,benign
P02545:p.Leu85Arg,pathogenic
P02545:p.Gly86Ala,benign
P02545:p.Gly86Ser,benign
P02545:p.Arg89Leu,pathogenic
P02545:p.Leu92Phe,pathogenic
P02545:p.Lys97Glu,pathogenic
P02545:p.Arg101Pro,pathogenic
P02545:p.Ser107Gly,benign
P02545:p.Glu115Asp,benign
P02545:p.Thr121Ser,benign
P02545:p.Ile128Leu,benign
P02545:p.Ile128Met,benign
P02545:p.Arg133Leu,pathogenic
P02545:p.Arg133Pro,pathogenic
P02545:p.Glu138Lys,pathogenic
P02545:p.Leu140Pro,pathogenic
P02545:p.Leu140Arg,pathogenic
P02545:p.Ser143Phe,pathogenic
P02545:p.Ser143Pro,pathogenic
P02545:p.Glu145Lys,pathogenic
P02545:p.Thr150Pro,pathogenic
P02545:p.Leu158Val,benign
P02545:p.Glu159Asp,benign
P02545:p.Gly160Asp,benign
P02545:p.Gly160Asn,benign
P02545:p.Gly160Ser,benign
P02545:p.Glu161Lys,pathogenic
P02545:p.His163Arg,benign
P02545:p.Arg166Pro,pathogenic
P02545:p.Val169Ala,benign
P02545:p.Ala170Thr,benign
P02545:p.Gly177Ser,benign
P02545:p.Arg189Pro,pathogenic
P02545:p.Arg190Gln,pathogenic
P02545:p.Arg190Trp,pathogenic
P02545:p.Asp192Gly,pathogenic
P02545:p.Asn195Lys,pathogenic
P02545:p.Met200Leu,benign
P02545:p.Glu203Gly,pathogenic
P02545:p.Glu203Lys,pathogenic
P02545:p.Phe206Leu,pathogenic
P02545:p.Ile210Ser,pathogenic
P02545:p.Leu215Pro,pathogenic
P02545:p.His222Pro,pathogenic
P02545:p.His222Tyr,pathogenic
P02545:p.Arg225Gln,pathogenic
P02545:p.Asp230Asn,pathogenic
P02545:p.Gly232Glu,pathogenic
P02545:p.Ala242Ser,benign
P02545:p.Glu247Asp,benign
P02545:p.Leu248Pro,pathogenic
P02545:p.Arg249Gln,pathogenic
P02545:p.Arg249Trp,pathogenic
P02545:p.Asp254Glu,benign
P02545:p.Glu257Asp,benign
P02545:p.Gln258His,benign
P02545:p.Lys261Thr,benign
P02545:p.Glu262Asp,benign
P02545:p.Tyr267Cys,pathogenic
P02545:p.Ser268Pro,pathogenic
P02545:p.Leu271Pro,pathogenic
P02545:p.Ser277Ala,benign
P02545:p.Val285Ala,benign
P02545:p.Val285Met,benign
P02545:p.Gln294Pro,pathogenic
P02545:p.Ser295Pro,pathogenic
P02545:p.Ser295Thr,benign
P02545:p.Ile297Val,benign
P02545:p.Arg298Cys,pathogenic
P02545:p.Asp300Gly,pathogenic
P02545:p.Leu302Met,benign
P02545:p.Leu302Pro,pathogenic
P02545:p.Ser303Pro,pathogenic
P02545:p.Ala314Thr,benign
P02545:p.Glu317Lys,pathogenic
P02545:p.Ala318Ser,benign
P02545:p.Ala318Thr,pathogenic
P02545:p.Ser326Ala,benign
P02545:p.Ala328Ser,benign
P02545:p.Arg336Gln,pathogenic
P02545:p.Glu340Asp,benign
P02545:p.Arg343Gln,pathogenic
P02545:p.Met345Thr,benign
P02545:p.Glu347Asp,benign
P02545:p.Arg349Leu,pathogenic
P02545:p.Glu358Lys,pathogenic
P02545:p.Glu361Lys,pathogenic
P02545:p.Met371Lys,pathogenic
P02545:p.Arg377His,pathogenic
P02545:p.Arg377Leu,pathogenic
P02545:p.Leu380Ser,pathogenic
P02545:p.Glu385Gly,benign
P02545:p.Arg386Lys,pathogenic
P02545:p.Arg388His,pathogenic
P02545:p.Thr394Ser,benign
P02545:p.Ser395Thr,benign
P02545:p.Arg397Gln,benign
P02545:p.Ser398Gly,benign
P02545:p.Ser398Arg,benign
P02545:p.Ser398Thr,benign
P02545:p.Arg399Cys,pathogenic
P02545:p.Ala402Thr,benign
P02545:p.Ser403Ala,benign
P02545:p.Ser403Thr,benign
P02545:p.Ser404Ala,benign
P02545:p.His405Ala,benign
P02545:p.His405Ser,benign
P02545:p.His405Thr,benign
P02545:p.Ser406Gln,benign
P02545:p.Ser406Val,benign
P02545:p.Ser407Thr,benign
P02545:p.Gln408His,benign
P02545:p.Thr409Gly,benign
P02545:p.Thr409Ser,benign
P02545:p.Gln410Gly,benign
P02545:p.Gly411Ala,benign
P02545:p.Gly411Ser,benign
P02545:p.Gly412Ala,benign
P02545:p.Gly412Ser,benign
P02545:p.Gly412Thr,benign
P02545:p.Gly413Ala,benign
P02545:p.Gly413Ser,benign
P02545:p.Ser414Gly,benign
P02545:p.Val415Ala,benign
P02545:p.Val415Ile,benign
P02545:p.Val415Thr,benign
P02545:p.Thr416Ala,benign
P02545:p.Glu422Asp,benign
P02545:p.Ser423Ala,benign
P02545:p.Ser423Thr,benign
P02545:p.Ser423Val,benign
P02545:p.Thr424Ala,benign
P02545:p.Thr424Glu,benign
P02545:p.Thr424Ser,benign
P02545:p.Glu425Ser,benign
P02545:p.Ser426Ala,benign
P02545:p.Ser426Arg,benign
P02545:p.Ser429Arg,benign
P02545:p.Arg435Cys,pathogenic
P02545:p.Arg439Cys,pathogenic
P02545:p.Asp446Val,pathogenic
P02545:p.Glu448Asp,benign
P02545:p.Glu448Gly,benign
P02545:p.Gly449Asp,pathogenic
P02545:p.Arg453Pro,pathogenic
P02545:p.Arg453Trp,pathogenic
P02545:p.Leu454Pro,pathogenic
P02545:p.Arg455His,benign
P02545:p.Arg455Pro,pathogenic
P02545:p.Asn456Asp,pathogenic
P02545:p.Asn456Ile,pathogenic
P02545:p.Asn456Lys,pathogenic
P02545:p.Asn459Ser,benign
P02545:p.Asp461Tyr,pathogenic
P02545:p.Ser463Thr,benign
P02545:p.Met464Leu,benign
P02545:p.Gly465Asp,pathogenic
P02545:p.Trp467Arg,pathogenic
P02545:p.Ile469Thr,pathogenic
P02545:p.Lys470Arg,benign
P02545:p.Arg471Cys,pathogenic
P02545:p.Arg471His,pathogenic
P02545:p.Asp475Glu,benign
P02545:p.Asp476Glu,benign
P02545:p.Leu479Met,benign
P02545:p.Tyr481His,pathogenic
P02545:p.Arg482Leu,pathogenic
P02545:p.Arg482Gln,pathogenic
P02545:p.Arg482Trp,pathogenic
P02545:p.Lys486Asn,pathogenic
P02545:p.Thr488Ile,benign
P02545:p.Val494Ala,benign
P02545:p.Ile497Val,benign
P02545:p.Ala500Ser,benign
P02545:p.Thr505Ser,benign
P02545:p.Ser507Asn,benign
P02545:p.Thr510Ala,benign
P02545:p.Thr510Ser,benign
P02545:p.Leu512Val,benign
P02545:p.Lys515Glu,pathogenic
P02545:p.Ala516Ser,benign
P02545:p.Ala516Thr,benign
P02545:p.Asn518Ser,benign
P02545:p.Thr519Ser,benign
P02545:p.Trp520Ser,pathogenic
P02545:p.Cys522Trp,benign
P02545:p.Gly523Arg,pathogenic
P02545:p.Asn524Ser,benign
P02545:p.Asn524Thr,benign
P02545:p.Arg527Cys,pathogenic
P02545:p.Arg527His,pathogenic
P02545:p.Arg527Pro,pathogenic
P02545:p.Thr528Lys,pathogenic
P02545:p.Thr528Arg,pathogenic
P02545:p.Ala529Val,pathogenic
P02545:p.Leu530Pro,pathogenic
P02545:p.Ser533Ala,benign
P02545:p.Thr534Asn,benign
P02545:p.Glu536Asp,benign
P02545:p.Arg541His,pathogenic
P02545:p.Arg541Pro,pathogenic
P02545:p.Arg541Ser,pathogenic
P02545:p.Lys542Asn,pathogenic
P02545:p.Val547Leu,benign
P02545:p.Thr548Ile,benign
P02545:p.Val549Met,benign
P02545:p.Val550Ile,benign
P02545:p.Glu551Asp,benign
P02545:p.Glu554Asp,benign
P02545:p.Glu554Asn,benign
P02545:p.Asp555Glu,benign
P02545:p.Asp555Gly,benign
P02545:p.Glu556Asp,benign
P02545:p.Glu556Ser,benign
P02545:p.Asp557His,benign
P02545:p.Asp559Glu,benign
P02545:p.Asp560Glu,benign
P02545:p.Leu561Met,benign
P02545:p.Leu562Ile,benign
P02545:p.His563Gln,benign
P02545:p.His566Gly,benign
P02545:p.His566Arg,benign
P02545:p.Gly567Ala,benign
P02545:p.Gly567Val,benign
P02545:p.Ser568Thr,benign
P02545:p.His569Gly,benign
P02545:p.Cys570Ala,benign
P02545:p.Cys570Gly,benign
P02545:p.Cys570Ser,benign
P02545:p.Ser571Gly,benign
P02545:p.Ser571Arg,benign
P02545:p.Ser571Thr,benign
P02545:p.Ser572Gly,benign
P02545:p.Ser572Leu,benign
P02545:p.Ser573Leu,pathogenic
P02545:p.Ser573Pro,benign
P02545:p.Ser573Thr,benign
P02545:p.Gly574Leu,benign
P02545:p.Arg582His,pathogenic
P02545:p.Leu587Val,benign
P02545:p.Asp596Glu,benign
P02545:p.Ser599Ala,benign
P02545:p.Ser599Pro,benign
P02545:p.Ala600Gly,benign
P02545:p.Ser601Ala,benign
P02545:p.Ser601Gly,benign
P02545:p.Ser601Thr,benign
P02545:p.Gly602Ser,pathogenic
P02545:p.Ser603Ala,benign
P02545:p.Ser603Pro,benign
P02545:p.Gly604Ala,benign
P02545:p.Gln606Ala,benign
P02545:p.Gln606His,benign
P02545:p.Val607Ala,benign
P02545:p.Val607Leu,benign
P02545:p.Val607Met,benign
P02545:p.Gly608Ala,benign
P02545:p.Gly608Ser,pathogenic
P02545:p.Pro610Ser,benign
P02545:p.Ile611Val,benign
P02545:p.Gly614Ala,benign
P02545:p.Val620Ile,benign
P02545:p.Arg624His,pathogenic
P02545:p.Tyr626Phe,benign
P02545:p.Ser628Gly,benign
P02545:p.Gly635Ser,benign
P02545:p.Ser636Gly,benign
P02545:p.Asp639Glu,benign
P02545:p.Asn640His,benign
P02545:p.Asn640Ser,benign
P02545:p.Val642Gly,benign
P02545:p.Thr643Ala,benign
P02545:p.Thr643Gly,benign
P02545:p.Thr643His,benign
P02545:p.Arg644Thr,benign
P02545:p.Ser645Arg,benign
P02545:p.Asn650Asp,benign
P02545:p.Asn650Ser,benign
P02545:p.Asn650Thr,benign
P02545:p.Ser651Ala,benign
P02545:p.Ser651Cys,benign
P02545:p.Ser652Arg,benign
P02545:p.Ser652Thr,benign
P02545:p.Pro653Leu,benign
P02545:p.Pro653Arg,benign
P02545:p.Thr655Ser,benign
P02545:p.Ser657Ala,benign
P02545:p.Ser657Gly,benign
P02545:p.Ser657Lys,benign
P02545:p.Ser657Asn,benign
P02545:p.Ser657Gln,benign
P02545:p.Ser657Arg,benign
P02545:p.Pro658Ala,benign
P02545:p.Pro658Asn,benign
P02545:p.Pro658Ser,benign
P02545:p.Ser662Ala,benign
P02545:p.Ser662Asn,benign
P02545:p.Ser662Arg,benign
P02545:p.Ser662Thr,benign
P02545:p.Ile663Val,benign