| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSG2 | 9 | V392I | c.1174G>A | p.Val392Ile |
0/500
| TFC+ | 8 | Digenic: PKP2 S50fsX110 |
Mutation details
|
| DSP | 1 | V30M | c.88G>A | p.Val30Met |
0/500
| TFC+ | 4 | Compound heterozygote: DSP R2541K |
Mutation details
|
| DSP | 23 | L1654P | c.4961T>C | p.Leu1654Pro |
0/500
| TFC+ | 4 | Digenic and compound heterozygote: PKP2 Q62K and PKP2 Q707X |
Mutation details
|
| DSP | 24 | R2541K | c.7622G>A | p.Arg2541Lys |
0/500
| TFC+ | 4 | Compound heterozygote: DSP V30M |
Mutation details
|
| PKP2 | 1 | S50fsX110 | c.148_151delACAG | p.Thr50SerfsX61 |
0/0
| TFC+ | 8 | Digenic: DSG2 V392I |
Mutation details
|
| PKP2 | 1 | Q62K | c.184C>A | p.Gln62Lys |
0/400
| TFC+ | 4 | Digenic and compound heterozygote: DSP L1654P and PKP2 Q707X |
Mutation details
|
| PKP2 | 10 | Q707X | c.2119C>T | p.Gln707X |
0/400
| TFC+ | 4 | Digenic and compound heterozygote: DSP L1654P and PKP2 Q62K |
Mutation details
|