SBDSbase: Shwachman-Diamond syndrome

SBDSbase mutation types

The number of analyzed patients
Missense	20
Nonsense	2
Deletion inframe	1
Deletion frameshift	12
Insertion frameshift	1
Splice site frameshift	18
Splice site undefined	10
Multiple	14
Unclassified	145
Total	223

The number of unrelated patients
Missense	19
Nonsense	2
Deletion inframe	1
Deletion frameshift	11
Insertion frameshift	1
Splice site frameshift	18
Splice site undefined	10
Multiple	14
Unclassified	142
Total	218