CD40Lbase: X-linked Hyper-IgM syndrome (XHIM)

CD40Lbase mutation types

The number of analyzed patients
Missense	78
Nonsense	61
Deletion inframe	5
Deletion frameshift	32
Deletion undefined	3
Insertion inframe	4
Insertion frameshift	22
Splice site inframe	15
Splice site frameshift	18
Splice site undefined	10
Multiple	1
Upstream	1
Total	250

The number of unrelated patients
Missense	70
Nonsense	52
Deletion inframe	5
Deletion frameshift	31
Deletion undefined	2
Insertion inframe	3
Insertion frameshift	20
Splice site inframe	10
Splice site frameshift	16
Splice site undefined	10
Multiple	1
Upstream	1
Total	221