| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSG2 | 12 | C591X | c.1773_1774delTG | p.Cys591X |
0/0
| LDAC | 0 | Proposed criteria for incorporation in new TFC |
Mutation details
|
| DSP | 7 | Splice | c.939+1G>A | r.spl? |
0/400
| LDAC | 0 | Proposed criteria for incorporation in new TFC |
Mutation details
|
| DSP | 11 | S442F | c.1325C>T | p.Ser442Phe |
0/400
| LDAC | 0 | Proposed criteria for incorporation in new TFC |
Mutation details
|
| DSP | 12 | S507F | c.1520C>T | p.Ser507Phe |
0/400
| LDAC | 1 | Proposed criteria for incorporation in new TFC |
Mutation details
|
| DSP | 14 | T586fsX594 | c.1755_1756insA | p.His586ThrfsX9 |
0/0
| LDAC | 3 | Proposed criteria for incorporation in new TFC |
Mutation details
|
| DSP | 22 | S1015fsX1017 | c.3045delG | p.Arg1015SerfsX3 |
0/400
| LDAC | 6 | Highly penetrant, cosegregated with a clinical phenotype in 6 affected individuals, whereas all those evaluated without the mutation had no clinical expression of disease |
Mutation details
|
| DSP | 23 | R1113X | c.3337C>T | p.Arg1113X |
0/400
| LDAC | 0 | Proposed criteria for incorporation in new TFC |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
0/0
| LDAC | 0 | Proposed criteria for incorporation in new TFC |
Mutation details
|