- databases for immunodeficiency-causing variations
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ADAbase
Variation registry for Adenosine deaminase deficiency (ADA)
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ADAbase
AICDAbase
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IL12Bbase
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LRRC8Abase
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NFKBIAbase
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NPbase
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PTPRCbase
RAB27Abase
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RAD50base
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RASGRP2base
RFX5base
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RNF168base
SBDSbase
SERPING1base
SH2D1Abase
SLC35C1base
SMARCAL1base
SP110base
SPINK5base
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STAT3base
STAT5Bbase
STIM1base
STX11base
STXBP2base
TAP1base
TAP2base
TAPBPbase
TAZbase
TCN2base
TLR3base
TMC6base
TMC8base
TNFRSF13Bbase
TYK2base
UNC13Dbase
UNC93B1base
UNGbase
WASbase
ZAP70base
uniq
ufam
all
Missense
40
79
83
Nonsense
4
8
9
Deletion inframe
1
1
1
Deletion frameshift
6
15
17
Deletion undefined
6
6
6
Insertion inframe
0
0
0
Insertion frameshift
0
0
0
Insertion undefined
0
0
0
Splice site inframe
2
2
2
Splice site frameshift
6
9
11
Splice site undefined
3
3
4
Multiple
1
1
1
Upstream
0
0
0
Unclassified
0
0
0
Total
69
124
134
uniq = Unique molecular events
ufam = Unrelated families
all = All analyzed alleles
©
IMT Bioinformatics
2000 - 2007
Last updated 25.2.2005 14:53 by
Jouni Väliaho
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024
