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- databases for immunodeficiency-causing variations

   IKBKGbase
   Variation registry for  Nemo deficiency


IKBKGbase mutation types

IKBKGbase mutation types

The number of analyzed patients
Missense28
Nonsense7
Deletion inframe2
Deletion frameshift2
Deletion undefined25
Insertion inframe3
Insertion frameshift13
Insertion undefined1
Splice site inframe2
Splice site frameshift1
Splice site undefined1
Total85
  
The number of unrelated patients
Missense24
Nonsense7
Deletion inframe2
Deletion frameshift2
Deletion undefined22
Insertion inframe3
Insertion frameshift13
Insertion undefined1
Splice site inframe1
Splice site frameshift1
Splice site undefined1
Total77