| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 2 | C32X | c.96delC | p.Cys32X |
0/400
| TFC+ | | Compound heterozygote: DSC2 C32X and I231T |
Mutation details
|
| DSC2 | 6 | I231T | c.692T>C | p.Ile231Thr |
0/400
| TFC+ | | Compound heterozygote: DSC2 C32X and I231T |
Mutation details
|
| DSC2 | 8 | T340A | c.1018A>G | p.Thr340Ala |
0/400
| TFC- | | Digenic: DSC2 T340A and PKP2 V837fsX930 |
Mutation details
|
| DSC2 | 15 | I776V | c.2326A>G | p.Ile776Val |
| | | MAF: 8.3% |
Mutation details
|
| DSC2 | 15 | R798Q | c.2393G>A | p.Arg798Gln |
| | | MAF: 2.1% |
Mutation details
|
| DSG2 | 3 | R49H | c.146G>A | p.Arg49His |
0/0
| TFC+ | | |
Mutation details
|
| DSG2 | 8 | I293V | c.877A>G | p.Ile293Val |
| | | MAF: 10.4% |
Mutation details
|
| DSG2 | 14 | E713K | c.2137G>A | p.Glu713Lys |
| | | MAF: 3.5% |
Mutation details
|
| DSG2 | 14 | R773K | c.2318G>A | p.Arg773Lys |
| | | Reported as K773R; MAF: 25% |
Mutation details
|
| DSG2 | 15 | V920G | c.2759T>G | p.Val920Gly |
| | | MAF: 0.4% |
Mutation details
|
| DSP | 7 | I305F | c.913A>T | p.Ile305Phe |
| | | Reported as F305I; MAF: 2.1% |
Mutation details
|
| DSP | 23 | Y1512C | c.4535A>G | p.Tyr1512Cys |
| | | MAF: 2.5% |
Mutation details
|
| DSP | 23 | N1526K | c.4578C>A | p.Asn1526Lys |
| | | MAF: 1.3% |
Mutation details
|
| DSP | 23 | R1537C | c.4609C>T | p.Arg1537Cys |
| | | MAF: 0.45% |
Mutation details
|
| DSP | 23 | R1738Q | c.5213G>A | p.Arg1738Gln |
| | | MAF: 4.2% |
Mutation details
|
| DSP | 24 | E1833V | c.5498A>T | p.Glu1833Val |
| | | MAF: 1.5% |
Mutation details
|
| DSP | 24 | C2501_E2502del | c.7503_7508delTGAATG | p.Cys2501_Glu2502del |
0/400
| TFC+ | | |
Mutation details
|
| JUP | 3 | R142H | c.425G>A | p.Arg142His |
| | | MAF: 5.3% |
Mutation details
|
| JUP | 14 | M697L | c.2089A>T | p.Met697Leu |
| | | MAF: 27.6% |
Mutation details
|
| PKP2 | 3 | E137K | c.409G>A | p.Glu137Lys |
0/400
| TFC- | | |
Mutation details
|
| PKP2 | 3 | S169G | c.505A>G | p.Ser169Gly |
0/400
| TFC- | | |
Mutation details
|
| PKP2 | 4 | L366P | c.1097T>C | p.Leu366Pro |
| | | Rported as P366L; MAF: 17%; could be associated to a more benign phenotype |
Mutation details
|
| PKP2 | 7 | W538X | c.1613G>A | p.Trp538X |
0/0
| TFC+ | | |
Mutation details
|
| PKP2 | 8 | Splice | c.1689-1G>C | r.spl? |
0/400
| TFC+ | | |
Mutation details
|
| PKP2 | 8 | V587I | c.1759G>A | p.Val587Ile |
| | | MAF: 0.8% |
Mutation details
|
| PKP2 | 9 | Y631C | c.1892A>G | p.Tyr631Cys |
0/400
| TFC+ | | Compound heterozygote: PKP2 Y631C and V837fsX930 |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/0
| TFC+ | | |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/0
| TFC+ | | Compound heterozygote: PKP2 Y631C and V837fsX930 |
Mutation details
|