- databases for immunodeficiency-causing variations
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HAX1base
Variation registry for Severe congenital neutropenia (Kostmann disease)
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ADAbase
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HAX1base
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PTPRCbase
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RAD50base
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RASGRP2base
RFX5base
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RFXAPbase
RNF168base
SBDSbase
SERPING1base
SH2D1Abase
SLC35C1base
SMARCAL1base
SP110base
SPINK5base
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STAT5Bbase
STIM1base
STX11base
STXBP2base
TAP1base
TAP2base
TAPBPbase
TAZbase
TCN2base
TLR3base
TMC6base
TMC8base
TNFRSF13Bbase
TYK2base
UNC13Dbase
UNC93B1base
UNGbase
WASbase
ZAP70base
HAX1base mutation types
HAX1base mutation types
The number of analyzed patients
Missense
6
Nonsense
8
Deletion frameshift
3
Insertion frameshift
3
Unclassified
19
Total
39
The number of unrelated patients
Missense
5
Nonsense
6
Deletion frameshift
3
Insertion frameshift
3
Unclassified
18
Total
35
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025
