| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 1 | E58D | c.174G>T | p.Glu58Asp |
25/500
| | | |
Mutation details
|
| PKP2 | 1 | Q59L | c.176A>T | p.Gln59Leu |
0/500
| 2 non-related index patients,
both TFC+ | 1 | 8 related mutation carriers TFC- |
Mutation details
|
| PKP2 | 1 | Q62K | c.184C>A | p.Gln62Lys |
0/500
| TFC+ | 1 | Compound heterozygote: PKP2 N613K
|
Mutation details
|
| PKP2 | 4 | L366P | c.1097T>C | p.Leu366Pro |
100/500
| | | |
Mutation details
|
| PKP2 | 7 | I531S | c.1592T>G | p.Ile531Ser |
15/500
| | | |
Mutation details
|
| PKP2 | 9 | N613K | c.1839C>G | p.Asn613Lys |
0/500
| TFC+ | 1 | Compound heterozygote: PKP2 Q62K
Affected relative is heterozygote |
Mutation details
|