- databases for immunodeficiency-causing variations
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ELA2base
Variation registry for Cyclic neutropenia; Congenital neutropenia
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ELA2base mutation types
ELA2base mutation types
The number of analyzed patients
Missense
104
Nonsense
6
Deletion inframe
3
Deletion frameshift
1
Splice site inframe
38
Splice site undefined
3
Multiple
1
Upstream
4
Total
160
The number of unrelated patients
Missense
65
Nonsense
6
Deletion inframe
3
Deletion frameshift
1
Splice site inframe
16
Splice site undefined
3
Multiple
1
Upstream
2
Total
97
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025
