| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSG2 | 3 | R46Q | c.137G>A | p.Arg46Gln |
0/220
| TFC+ | 1 | Reported as R45Q |
Mutation details
|
| DSG2 | 3 | R49H | c.146G>A | p.Arg49His |
0/220
| TFC+ | 0 | Reported as R48H; Compound heterozygote DSG2 W306X |
Mutation details
|
| DSG2 | 8 | W306X | c.918G>A | p.Trp306X |
0/220
| TFC+ | 2 | Reported as W305X; Compound heterozygote: DSG2 R49H |
Mutation details
|
| DSG2 | 11 | C507Y | c.1520G>A | p.Cys507Tyr |
0/220
| TFC+ | 0 | Reported as C506Y |
Mutation details
|
| DSG2 | 15 | G812C | c.2434G>T | p.Gly812Cys |
0/220
| Diagnosis established during postmortem autopsy | 2 | Reported as G811C |
Mutation details
|