| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 1 | S50fsX110 | c.145_148delCAGA | p.Thr50SerfsX61 |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 1 | Q74fsX85 | c.218dupG | p.Asn74GlnfsX12 |
0/500
| TFC+ | | 4 related mutation carriers are TFC-;
2 family members had ARVC on autopsy after SCD (at age 15 and 16) |
Mutation details
|
| PKP2 | 2 | R79X | c.235C>T | p.Arg79X |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 3 | C179fsX190 | c.534_535insCT | p.His179LeufsX12 |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 5 | Q457X | c.1369_1372delCAAA | p.Gln457X |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 7 | L544fsX563 | c.1630_1631insTT | p.Pro544LeufsX20 |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 7 | V548fsX562 | c.1643delG | p.Gly548ValfsX15 |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 9 | S615F | c.1844C>T | p.Ser615Phe |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 9 | Q638X | c.1912C>T | p.Gln638X |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 9 | V650fsX655 | c.1948delA | p.Ser650ValfsX6 |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 9 | R651X | c.1951C>T | p.Arg651X |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 9 | K654Q | c.1960A>C | p.Lys654Gln |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 10 | C693fsX741 | c.2076_2077delAA | p.Ser693CysfsX49 |
0/500
| TFC+ | 1 | 4 related mutation carriers are TFC- |
Mutation details
|
| PKP2 | 10 | K696fsX742 | c.2087dupA | p.Tyr697IlefsX46 |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 10 | Q699X | c.2095C>T | p.Gln699X |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 11 | Q726X | c.2176C>T | p.Gln726X |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 11 | R735X | c.2203C>T | p.Arg735X |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 12 | C796R | c.2386T>C | p.Cys796Arg |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 12 | T798_N800del | c.2393_2401del9 | p.Thr798_Asn800del |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 12 | E809fsX826 | c.2426dupA | p.Asn809LysfsX18 |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 12 | Splice | c.2489+1G>A | r.spl |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 13 | Splice | c.2490-1G>C | r.spl |
0/500
| TFC+ | | |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/500
| TFC+ | | |
Mutation details
|