| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSG2 | 3 | V56M | c.166G>A | p.Val56Met |
0/400
| TFC+ | 1 | Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations |
Mutation details
|
| DSP | 21 | S987P? | c.2959T>C | p.Ser987Pro? |
0/400
| TFC+ | 2 | |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
0/0
| TFC+ | 1 | Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations |
Mutation details
|
| PKP2 | 5 | F424S | c.1271T>C | p.Phe424Ser |
0/0
| TFC+ | 1 | |
Mutation details
|
| PKP2 | 7 | V548fsX562 | c.1643delG | p.Gly548ValfsX15 |
0/0
| TFC+ | 6 | |
Mutation details
|
| PKP2 | 10 | R672fsX683 | c.2013delC | p.Lys672ArgfsX12 |
0/0
| TFC+ | 2 | |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/0
| TFC+ | 3 | Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations |
Mutation details
|
| PKP2 | 12 | G828G | c.2484C>T | r.2483_2489del |
0/0
| TFC+ | 3 | Three patients from 1 family were heterozygous for this cryptic splice site mutation |
Mutation details
|
| PKP2 | 12 | Splice | c.2489+1G>A | r.spl |
0/0
| TFC+ | 2 | |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/0
| TFC+ | 3 | |
Mutation details
|