| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 7 | P292S | c.874C>T | p.Pro292Ser |
0/1400
| | | |
Mutation details
|
| DSC2 | 8 | I342V | c.1026A>G | p.Ile342Val |
0/1400
| | | |
Mutation details
|
| DSC2 | 11 | Q554X | c.1660C>T | p.Gln554X |
0/1400
| | | |
Mutation details
|
| DSC2 | 13 | Q638H | c.1914G>C | p.Gln638His |
0/0
| | | See den Haan et al. |
Mutation details
|
| DSG2 | 3 | R49H | c.146G>A | p.Arg49His |
0/0
| TFC+ | | Also carries PKP2 I531S variant |
Mutation details
|
| DSG2 | 3 | V56M | c.166G>A | p.Val56Met |
0/0
| | | See Dalal et al. |
Mutation details
|
| DSG2 | 5 | R146H | c.437G>A | p.Arg146His |
0/0
| TFC+ | | Previously reported by Rampazzo et al.
Carries PKP2 S209R and R816fsX825 |
Mutation details
|
| DSG2 | 6 | D187G | c.560A>G | p.Asp187Gly |
0/1400
| | | |
Mutation details
|
| DSG2 | 8 | F321I | c.961T>A | p.Phe321Ile |
0/1400
| | | |
Mutation details
|
| DSG2 | 8 | T335A | c.1003A>G | p.Thr335Ala |
0/0
| TFC+ | | See den Haan et al. |
Mutation details
|
| DSG2 | 9 | V392I | c.1174G>A | p.Val392Ile |
0/0
| TFC+ | | See Bauce et al. |
Mutation details
|
| DSP | 1 | V30M | c.88G>A | p.Val30Met |
0/1400
| TFC+ | | Compound heterozygote: PKP2 W538X and Q638H |
Mutation details
|
| DSP | 2 | Q90R | c.269A>G | p.Gln90Arg |
0/1400
| TFC+ | | Digenic: PKP2 S406fsX409 |
Mutation details
|
| DSP | 5 | W207X | c.620G>A | p.Trp207X |
0/1400
| TFC+ | | Also carries PKP2 I531S variant |
Mutation details
|
| DSP | 5 | D230N | c.688G>A | p.Asp230Asn |
0/1400
| | | |
Mutation details
|
| DSP | 12 | Y494F | c.1481A>T | p.Tyr494Phe |
0/1400
| | | |
Mutation details
|
| DSP | 13 | I553T | c1598T>C | p.Ile553Thr |
0/1400
| | | |
Mutation details
|
| DSP | 23 | R1255K | c.3764G>A | p.Arg1255Lys |
0/0
| | | Previously reported by Bauce et al.
Carries PKP2 Q211X and I778T |
Mutation details
|
| DSP | 23 | R1537C | c.4609C>T | p.Arg1537Cys |
0/0
| | | See den Haan et al. |
Mutation details
|
| DSP | 23 | L1654P | c.4961T>C | p.Leu1654Pro |
0/0
| TFC+ | | See Bauce et al. |
Mutation details
|
| DSP | 24 | R2834H | c.8501G>A | p.Arg2834His |
0/1400
| | | |
Mutation details
|
| JUP | 3 | I131del | c.392_392delTCA | p.Ile131del |
0/1400
| | | |
Mutation details
|
| JUP | 4 | V159L | c.475G>T | p.Val159Leu |
0/1400
| | | |
Mutation details
|
| PKP2 | 1 | S50fsX110 | c.148_151delACAG | p.Thr50SerfsX61 |
0/0
| TFC+ | | See Bauce et al. |
Mutation details
|
| PKP2 | 1 | Q62K | c.184C>A | p.Gln62Lys |
0/0
| TFC+ | | See Bauce et al. |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
0/0
| | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 3 | S209R | c.627C>G | p.Ser209Arg |
0/0
| TFC+ | | Previously reported by Rampazzo et al.
Carries PKP2 R816fsX825 and DSG2 R146H |
Mutation details
|
| PKP2 | 3 | Q211X | c.631C>T | p.Gln211X |
0/0
| TFC+ | | Previously reported by Rampazzo et al.
Carries PKP2 I778T and DSP R1255K |
Mutation details
|
| PKP2 | 4 | A372P | c.1114G>C | p.Ala372Pro |
0/0
| | | See den Haan et al. |
Mutation details
|
| PKP2 | 4 | R388W | c.1162C>T | p.Arg388Trp |
0/1400
| TFC+ | | |
Mutation details
|
| PKP2 | 5 | Splice | c.1171-2A>G | r.spl |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 5 | S406fsX409 | c.1211dupT | p.Val406SerfsX4 |
0/1400
| TFC+ | | Reported as L404fsX409; Digenic: DSP Q90R |
Mutation details
|
| PKP2 | 5 | N456fsX458 | c.1368delA | p.Lys456AsnfsX3 |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 7 | I531S | c.1592T>G | p.Ile531Ser |
0/0
| | | See den Haan et al. |
Mutation details
|
| PKP2 | 7 | W538X | c.1613G>A | p.Trp538X |
0/0
| | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 7 | V548fsX562 | c.1643delG | p.Gly548ValfsX15 |
0/0
| TFC+ | | Previously reported by Rampazzo et al. |
Mutation details
|
| PKP2 | 8 | V587I | c.1759G>A | p.Val587Ile |
0/0
| TFC+ | | See Basso et al. |
Mutation details
|
| PKP2 | 10 | Q660X | c.1978C>T | p.Gln660X |
0/1400
| | | |
Mutation details
|
| PKP2 | 10 | N670fsX683 | c.2009delC | p.Asn670ThrfsX14 |
0/0
| | | See Basso et al. |
Mutation details
|
| PKP2 | 10 | Q707X | c.2119C>T | p.Gln707X |
0/0
| TFC+ | | See Basso et al. and Bauce et al. |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/0
| | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 11 | A733fsX740 | c.2197_2202delinsG | p.His733AlafsX8 |
0/0
| | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 12 | I778T | c.2333T>C | p.Ile778Thr |
0/0
| TFC+ | | Previously reported by Rampazzo et al.
Carries PKP2 Q211X and DSP R1255K |
Mutation details
|
| PKP2 | 12 | L787F | c.2359C>T | p.Leu787Phe |
0/0
| TFC+ | | Also carries PKP2 I531S variant |
Mutation details
|
| PKP2 | 12 | R816fsX825 | c.2447_2448delCC | p.Thr816ArgfsX10 |
0/0
| TFC+ | | Previously reported by Rampazzo et al.
Carries PKP2 S209R and DSG2 R146H |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/0
| | | Previously reported by Dalal et al. |
Mutation details
|