| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSG2 | 4 | G100R | c.298G>C | p.Gly100Arg |
0/200
| TFC+ | | |
Mutation details
|
| DSG2 | 9 | E418fsX419 | c.1253_1254insATGA | p.Asp418GlufsX2 |
0/200
| TFC+ | | |
Mutation details
|
| DSG2 | 12 | Q558X | c.1672C>T | p.Gln558X |
0/200
| TFC+ | | |
Mutation details
|
| DSG2 | 14 | E713K | c.2137G>A | p.Glu713Lys |
0/200
| TFC+ | | |
Mutation details
|
| DSP | 4 | Splice | c.542+5G>A | r.spl |
0/200
| TFC+ | | Functional analysis suggests that the aberrant transcripts would be
degraded. |
Mutation details
|
| DSP | 11 | K470E | c.1408A>G | p.Lys470Glu |
0/200
| TFC+ | | Compound heterozygote: DSP A556T |
Mutation details
|
| DSP | 13 | A566T | c.1696G>A | p.Ala566Thr |
0/200
| TFC+ | | Compound heterozygote: DSP K470E |
Mutation details
|
| DSP | 23 | K1583R | c.4748A>G | p.Lys1583Arg |
0/200
| TFC+ | | |
Mutation details
|
| PKP2 | 8 | V587I | c.1759G>A | p.Val587Ile |
0/200
| TFC+ | | |
Mutation details
|
| PKP2 | 10 | N670fsX683 | c.2009delC | p.Asn670ThrfsX14 |
0/200
| TFC+ | | |
Mutation details
|
| PKP2 | 10 | Q707X | c.2119C>T | p.Gln707X |
0/200
| TFC+ | | |
Mutation details
|