SERPING1base: Hereditary angioedema

SERPING1base mutation types

The number of analyzed patients
Missense	125
Nonsense	35
Deletion inframe	9
Deletion frameshift	43
Deletion undefined	23
Insertion inframe	2
Insertion frameshift	14
Insertion undefined	3
Splice site inframe	4
Splice site frameshift	1
Splice site undefined	22
Multiple	1
Upstream	2
Unclassified	6
Total	290

The number of unrelated patients
Missense	95
Nonsense	29
Deletion inframe	8
Deletion frameshift	33
Deletion undefined	23
Insertion inframe	2
Insertion frameshift	14
Insertion undefined	3
Splice site inframe	4
Splice site frameshift	1
Splice site undefined	21
Multiple	1
Upstream	2
Unclassified	2
Total	238