| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 4 | L366P | c.1097T>C | p.Leu366Pro |
0/0
| | | Found at frequency >1% in general population |
Mutation details
|
| PKP2 | 4 | Q378X | c.1132C>T | p.Gln378X |
0/482
| TFC+ | | |
Mutation details
|
| PKP2 | 4 | R388W | c.1162C>T | p.Arg388Trp |
0/482
| TFC+ | | Founder mutation, found in 4 probands |
Mutation details
|
| PKP2 | 6 | G489R | c.1465G>A | p.Gly489Arg |
0/482
| TFC+ | | |
Mutation details
|
| PKP2 | 10 | Intronic | c.2145+45G>A | - |
0/0
| | | Found at frequency >1% in general population, reported as IVS10+44G>A |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/0
| TFC+ | | |
Mutation details
|
| PKP2 | 11 | A733fsX740 | c.2197_2202delinsG | p.His733AlafsX8 |
0/0
| TFC+ | 4 | Compound heterozygote: PKP2 R388W in two family members with severe phenotype |
Mutation details
|
| PKP2 | 11 | Intronic | c.2299+7C>T | - |
0/0
| | | Found at frequency >1% in general population |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/0
| TFC+ | | |
Mutation details
|
| PKP2 | 13 | L847P | c.2540T>C | p.Leu847Pro |
0/482
| TFC+ | | |
Mutation details
|
| PKP2 | 14 | Intronic | c.2578-69G>A | - |
0/0
| | | Found at frequency >1% in general population; reported as IVS13+83G>A |
Mutation details
|