| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 3 | R158K | c.473G>A | p.Arg158Lys |
0/100
| Modified TFC+ | 0 | |
Mutation details
|
| PKP2 | 3 | Q211X | c.631C>T | p.Gln211X |
0/100
| TFC+ | 0 | |
Mutation details
|
| PKP2 | 5 | L419S | c.1256T>C | p.Leu419Ser |
0/100
| TFC+ | 0 | |
Mutation details
|
| PKP2 | 12 | A793D | c.2378C>A | p.Ala793Asp |
0/100
| TFC+ | 0 | |
Mutation details
|
| PKP2 | 13 | N852fsX930 | c.2554delG | p.Glu852AsnfsX79 |
0/100
| TFC+ | 0 | Mutation found in 3 unrelated individuals |
Mutation details
|