| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 3 | E102K | c.304G>A | p.Glu102Lys |
0/500
| TFC+ | 3 | Family members with mutation are TFC- |
Mutation details
|
| DSC2 | 8 | I345T | c.1034T>C | p.Ile345Thr |
0/500
| TFC+ | 1 | |
Mutation details
|