| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 12 | G828G | c.2484C>T | r.2483_2489del |
0/420
| TFC+ | 0 | autosomal recessive; causing cryptic splicing; heterozygous carriers show no signs of disease |
Mutation details
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