| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSP | 20 | A955T | c.2863G>A | p.Ala955Thr |
0/0
| Athlete with RV arrhythmias | | |
Mutation details
|
| DSP | 23 | L1288R | c.3863A>G | p.Lys1288Arg |
0/0
| Athlete with RV arrhythmias | | |
Mutation details
|
| JUP | 3 | A143T | c.427G>A | p.Ala143Thr |
0/0
| Athlete with RV arrhythmias | | 2 unaffected family members carried the same mutation |
Mutation details
|
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
0/0
| Athlete with RV arrhythmias | | |
Mutation details
|
| PKP2 | 3 | S169G | c.505A>G | p.Ser169Gly |
0/0
| Athlete with RV arrhythmias | | |
Mutation details
|
| PKP2 | 5 | D460N | c.1378G>A | p.Asp460Asn |
0/0
| Athlete with RV arrhythmias | | |
Mutation details
|
| PKP2 | 7 | T550fsX559 | c.1648_1657del | p.Leu550ThrfsX10 |
0/0
| Athlete with RV arrhythmias | | |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/0
| Athlete with RV arrhythmias, N=2 | | |
Mutation details
|