| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 1 | N11S | c.32A>G | p.Asn11Ser |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSC2 | 12 | A596V | c.1787C>T | p.Ala596Val |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSC2 | 13 | Q638H | c.1914G>C | p.Gln638His |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSC2 | 15 | I776V | c.2326A>G | p.Ile776Val |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSC2 | 15 | R798Q | c.2393G>A | p.Arg798Gln |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSC2 | 16 | A897fsX900 | c.2686_2687dupGA | p.Ala897LysfsX4 |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSG2 | 3 | R46Q | c.137G>A | p.Arg46Gln |
0/0
| TFC+ | | Previously reported by Awad et al. |
Mutation details
|
| DSG2 | 3 | R49H | c.146G>A | p.Arg49His |
0/0
| TFC+; 2 unrelated probands | | Previously reported by Awad et al. |
Mutation details
|
| DSG2 | 3 | V56M | c.166G>A | p.Val56Met |
0/0
| TFC+ | | Share conclusion that V56M likely plays a contributory role. See Dalal et al. |
Mutation details
|
| DSG2 | 5 | V158G | c.473T>G | p.Val158Gly |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSG2 | 8 | Splice | c.829-1_835del | r.spl |
0/400
| TFC+ | | Digenic: PKP2 R413X |
Mutation details
|
| DSG2 | 8 | W306X | c.918G>A | p.Trp306X |
0/0
| TFC+ | | Previously reported by Awad et al. |
Mutation details
|
| DSG2 | 8 | T335A | c.1003A>G | p.Thr335Ala |
0/400
| TFC+ | | Digenic: PKP2 S50fsX110 |
Mutation details
|
| DSG2 | 11 | C507Y | c.1520G>A | p.Cys507Tyr |
0/0
| TFC+ | | Previously reported by Awad et al. |
Mutation details
|
| DSG2 | 14 | E713K | c.2137G>A | p.Glu713Lys |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSG2 | 15 | H790Y | c.2368C>T | p.His790Tyr |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSG2 | 15 | G812C | c.2434G>T | p.Gly812Cys |
0/0
| TFC+ | | Previously reported by Awad et al. |
Mutation details
|
| DSG2 | 15 | S883F | c.2648C>T | p.Ser883Phe |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSG2 | 15 | S1098C | c.3293C>G | p.Ser1098Cys |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSP | 7 | I305F | c.913A>T | p.Ile305Phe |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSP | 11 | I445V | c.1333A>G | p.Ile445Val |
0/400
| TFC+ | | |
Mutation details
|
| DSP | 23 | A1505V | c.4514C>T | p.Ala1505Val |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSP | 23 | Y1512C | c.4535A>G | p.Tyr1512Cys |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSP | 23 | N1526K | c.4578C>A | p.Asn1526Lys |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSP | 23 | R1537C | c.4609C>T | p.Arg1537Cys |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| DSP | 23 | R1738Q | c.5213G>A | p.Arg1738Gln |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| JUP | 2 | T19I | c.56C>T | p.Thr19Ile |
0/400
| TFC+ | | |
Mutation details
|
| JUP | 3 | R142H | c.425G>A | p.Arg142His |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| JUP | 12 | V648I | c.1942G>A | p.Val648Ile |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| JUP | 14 | M697L | c.2089A>T | p.Met697Leu |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 1 | S50fsX110 | c.145_148delCAGA | p.Thr50SerfsX61 |
0/0
| TFC+; 4 unrelated probands | | Previously reported by Dalal et al. Digenic in one patient: DSG2 T335A |
Mutation details
|
| PKP2 | 1 | S70I | c.209G>T | p.Ser70Ile |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 1 | A74fsX112 | c.217_218dupGG | p.Asn74AlafsX39 |
0/0
| TFC-; 1 major and 1 minor TFC | | |
Mutation details
|
| PKP2 | 2 | R79X | c.235C>T | p.Arg79X |
0/0
| TFC+; 2 unrelated probands | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 3 | A195V | c.584C>T | p.Ala195Val |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 3 | P276S | c.826C>T | p.Pro276Ser |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 4 | L366P | c.1097T>C | p.Leu366Pro |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 4 | A372P | c.1114G>C | p.Ala372Pro |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 5 | Splice | c.1171-2A>G | r.spl |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 5 | R413X | c.1237C>T | p.Arg413X |
0/0
| TFC+; 2 unrelated probands | | Digenic in one patient: DSG2 c.829-1_835del |
Mutation details
|
| PKP2 | 5 | F424S | c.1271T>C | p.Phe424Ser |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 5 | H436fsX446 | c.1307_1315delins8 | p.Leu436HisfsX11 |
0/400
| TFC+ | | |
Mutation details
|
| PKP2 | 5 | N456fsX458 | c.1368delA | p.Lys456AsnfsX3 |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 7 | T526M | c.1577C>T | p.Thr526Met |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 7 | I531S | c.1592T>G | p.Ile531Ser |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 7 | W538X | c.1613G>A | p.Trp538X |
0/0
| TFC+; 5 unrelated probands | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 7 | V548fsX562 | c.1643delG | p.Gly548ValfsX15 |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 8 | V587I | c.1759G>A | p.Val587Ile |
0/0
| TFC+ | | Compound heterozygote: PKP2 c.2145+1G>C |
Mutation details
|
| PKP2 | 10 | R672fsX683 | c.2013delC | p.Lys672ArgfsX12 |
0/0
| TFC+ | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 10 | Splice | c.2145+1G>C | r.spl |
0/400
| TFC+ | | Compound heterozygote: PKP2 V587I |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/0
| TFC+; 10 unrelated probands | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 11 | A733fsX740 | c.2197_2202delinsG | p.His733AlafsX8 |
0/0
| TFC+; 3 unrelated probands | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 12 | L787F | c.2359C>T | p.Leu787Phe |
0/400
| TFC+ | | |
Mutation details
|
| PKP2 | 12 | G828G | c.2484C>T | r.2483_2489del |
0/0
| TFC+; 2 unrelated probands | | Previously reported by Awad et al, homozygous mutation carriers |
Mutation details
|
| PKP2 | 12 | Splice | c.2489+1G>T | r.spl |
0/400
| TFC+ | | |
Mutation details
|
| PKP2 | 12 | A830P | c.2488G>C | p.Ala830Pro |
0/0
| | | Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation |
Mutation details
|
| PKP2 | 12 | Splice | c.2489+1G>A | r.spl |
0/0
| TFC+; 3 unrelated probands | | Previously reported by Dalal et al. |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/0
| TFC-; 3 minor TFC | | Previously reported by Dalal et al. |
Mutation details
|