CTSCbase: Papillon-Lefevre syndrome

CTSCbase mutation types

The number of analyzed patients
Missense	77
Nonsense	32
Deletion inframe	4
Deletion frameshift	8
Insertion frameshift	3
Splice site frameshift	5
Splice site undefined	8
Total	137

The number of unrelated patients
Missense	43
Nonsense	25
Deletion inframe	2
Deletion frameshift	8
Insertion frameshift	3
Splice site frameshift	1
Splice site undefined	4
Total	86