IL12RB1base: Interleukin-12 receptor β1 deficiency

IL12RB1base mutation types

The number of analyzed patients
Missense	11
Nonsense	16
Deletion undefined	3
Insertion frameshift	2
Splice site inframe	2
Splice site frameshift	8
Splice site undefined	16
Total	58

The number of unrelated patients
Missense	10
Nonsense	12
Deletion undefined	3
Insertion frameshift	2
Splice site inframe	2
Splice site frameshift	5
Splice site undefined	11
Total	45