| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 7 | P289S | c.865C>T | p.Pro289Ser |
0/300
| TFC- (1 major and 1 minor) | | |
Mutation details
|
| DSC2 | 8 | D350Y | c.1048G>T | p.Asp350Tyr |
0/300
| TFC- (1 major and 1 minor) | | |
Mutation details
|
| DSC2 | 12 | I603T | c.1808T>C | p.Ile603Thr |
0/300
| TFC+ | | |
Mutation details
|
| DSC2 | 14 | L732V | c.2194T>G | p.Leu732Val |
0/300
| TFC+ | | Digenic: DSG2 V392I |
Mutation details
|
| DSG2 | 1 | L15Q | c.44T>A | p.Leu15Gln |
0/300
| TFC- (1 major and 1 minor) | | |
Mutation details
|
| DSG2 | 3 | R46Q | c.137G>A | p.Arg46Gln |
0/300
| TFC+ | | Founder mutation |
Mutation details
|
| DSG2 | 3 | V56M | c.166G>A | p.Val56Met |
0/300
| TFC- (1 major OR 2 minor) | | |
Mutation details
|
| DSG2 | 4 | I73V | c.217A>G | p.Ile73Val |
0/300
| TFC- (1 major OR 2 minor) | | |
Mutation details
|
| DSG2 | 5 | V149F | c.445G>T | p.Val149Phe |
0/300
| TFC- (1 major OR 2 minor) | | |
Mutation details
|
| DSG2 | 5 | V158G | c.473T>G | p.Val158Gly |
3/300
| TFC+ | | Carries DSG2 R46Q mutation |
Mutation details
|
| DSG2 | 6 | P205L | c.614C>T | p.Pro205Leu |
0/300
| TFC+ | | Compound heterozygote: DSG2 G1083S |
Mutation details
|
| DSG2 | 8 | D297N | c.889G>A | p.Asp297Asn |
0/300
| TFC+ | | Homozygous mutation carrier |
Mutation details
|
| DSG2 | 9 | V392I | c.1174G>A | p.Val392Ile |
0/300
| TFC+ | | LDAC in one patient; Digenic in another: DSC2 L732V |
Mutation details
|
| DSG2 | 15 | N1067D | c.3199A>G | p.Asn1067Asp |
0/300
| TFC- (1 major OR 2 minor) | | |
Mutation details
|
| DSG2 | 15 | G1083S | c.3247G>A | p.Gly1083Ser |
0/300
| TFC+ | | Compound heterozygote: DSG2 P205L |
Mutation details
|
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 1 | S50fsX110 | c.148_151delACAG | p.Thr50SerfsX61 |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 2 | R79X | c.235C>T | p.Arg79X |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 2 | Y86X | c.258T>G | p.Tyr86X |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 3 | Q133X | c.397C>T | p.Gln133X |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 3 | T338A | c.1012A>G | p.Thr338Ala |
0/300
| TFC- (1 major OR 2 minor) | | |
Mutation details
|
| PKP2 | 5 | S406fsX409 | c.1211dupT | p.Val406SerfsX4 |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 7 | I531S | c.1592T>G | p.Ile531Ser |
0/0
| TFC- (1 major OR 2 minor) | | |
Mutation details
|
| PKP2 | 9 | Y616X | c.1848C>A | p.Tyr616X |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 10 | W676X | c.2028G>A | p.Trp676X |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 10 | S688P | c.2062T>C | p.Ser688Pro |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 12 | C796R | c.2386T>C | p.Cys796Arg |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 12 | Y807X | c.2421C>A | p.Tyr807X |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 12 | Splice | c.2489+1G>A | r.spl |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|
| PKP2 | 12 | Splice | c.2489+4C>A | r.spl |
0/0
| TFC+ | | See van der Smagt et al. |
Mutation details
|
| PKP2 | 13 | W848X | c.2544G>A | p.Trp848X |
0/0
| TFC+ | | See van Tintelen et al. |
Mutation details
|