- databases for immunodeficiency-causing variations
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AK2base
Variation registry for reticular dysgenesis
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ADAbase
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SLC35C1base
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STIM1base
STX11base
STXBP2base
TAP1base
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TAZbase
TCN2base
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TMC8base
TNFRSF13Bbase
TYK2base
UNC13Dbase
UNC93B1base
UNGbase
WASbase
ZAP70base
AK2base mutation types
AK2base mutation types
The number of analyzed patients
Missense
5
Nonsense
1
Deletion frameshift
3
Splice site undefined
2
Total
11
The number of unrelated patients
Missense
5
Nonsense
1
Deletion frameshift
2
Splice site undefined
2
Total
10
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024
