- databases for immunodeficiency-causing variations
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C7base
Variation registry for C7 deficiency
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ADAbase
AICDAbase
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AK2base
AP3B1base
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CD19base
CD247base
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CD55base
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DCLRE1Cbase
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DNMT3Bbase
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FOXN1base
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G6PC3base
GFI1base
HAX1base
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IFNGR1base
IFNGR2base
IGHG2base
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IGLL1base
IKBKGbase
IL12Bbase
IL12RB1base
IL2RAbase
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IRAK4base
ITGB2base
JAK3base
LIG1base
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LRRC8Abase
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MLPHbase
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MRE11Abase
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NCF1base
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NFKBIAbase
NHEJ1base
NPbase
NRASbase
ORAI1base
PRF1base
PRKDCbase
PTPRCbase
RAB27Abase
RAC2base
RAD50base
RAG1base
RAG2base
RASGRP2base
RFX5base
RFXANKbase
RFXAPbase
RNF168base
SBDSbase
SERPING1base
SH2D1Abase
SLC35C1base
SMARCAL1base
SP110base
SPINK5base
STAT1base
STAT2base
STAT3base
STAT5Bbase
STIM1base
STX11base
STXBP2base
TAP1base
TAP2base
TAPBPbase
TAZbase
TCN2base
TLR3base
TMC6base
TMC8base
TNFRSF13Bbase
TYK2base
UNC13Dbase
UNC93B1base
UNGbase
WASbase
ZAP70base
C7base mutation types
C7base mutation types
The number of analyzed patients
Missense
17
Nonsense
6
Deletion frameshift
6
Deletion undefined
1
Splice site undefined
5
Total
35
The number of unrelated patients
Missense
13
Nonsense
5
Deletion frameshift
5
Deletion undefined
1
Splice site undefined
4
Total
28
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025
