| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 3 | G114fsX120 | c.341del | p.Glu114GlyfsX7 |
0/600
| TFC+ | | Compound heterozygote: G114fsX120 and R132C |
Mutation details
|
| DSC2 | 3 | R132C | c.394C>T | p.Arg132Cys |
0/600
| TFC+ | | Compound heterozygote: G114fsX120 and R132C |
Mutation details
|
| DSC2 | 15 | G790del | c.2368_2370delGGA | p.Gly790del |
0/600
| TFC+ | | |
Mutation details
|
| DSC2 | 16 | S868F | c.2603C>T | p.Ser868Phe |
0/600
| TFC+ | | Digenic: PKP2 V548fsX562 and DSC2 S868F |
Mutation details
|
| DSC2 | 16 | A897fsX900 | c.2686_2687dupGA | p.Ala897LysfsX4 |
5/600
| TFC+; n=4 | | Classified as polymorphism |
Mutation details
|
| DSG2 | 3 | R46W | c.136C>T | p.Arg46Trp |
0/600
| TFC+ | | |
Mutation details
|
| DSG2 | 3 | R46Q | c.137G>A | p.Arg46Gln |
0/600
| TFC+; n=3 | | In one patient digenic: PKP2 R811S and DSG2 R46Q |
Mutation details
|
| DSG2 | 3 | R49H | c.146G>A | p.Arg49His |
0/600
| TFC+; n=4 | | |
Mutation details
|
| DSG2 | 5 | R146L | c.437G>T | p.Arg146Leu |
0/600
| TFC+ | | Digenic: PKP2 Y686X and DSG2 R146L |
Mutation details
|
| DSG2 | 5 | Splice | c.523+2T>C | r.spl? |
0/600
| TFC+; n=3 | | In one patient digenic: PKP2 R101H and c.523+2T>C (homozyogous) |
Mutation details
|
| DSG2 | 6 | Splice | c.690+1G>A | r.spl? |
0/600
| TFC+ | | |
Mutation details
|
| DSG2 | 7 | N264E | c.792T>A | p.Asn264Glu |
0/600
| TFC+ | | |
Mutation details
|
| DSG2 | 7 | I269T | c.806T>C | p.Ile269Thr |
0/600
| TFC+ | | Digenic: PKP2 A264V and DSG2 I269T |
Mutation details
|
| DSG2 | 8 | S295fsX300 | c.882_883insA | p.Val295SerfsX6 |
0/600
| TFC+ | | Compound heterozygote: S295fsX300 and D640fsX654 |
Mutation details
|
| DSG2 | 8 | N326V | c.977A>T | p.Asn326Val |
0/600
| TFC+ | | |
Mutation details
|
| DSG2 | 8 | N326V | c.977A>T | p.Asn326Val |
0/600
| TFC+ | | Digenic: PKP2 L92X and DSG2 N326V |
Mutation details
|
| DSG2 | 13 | D640fsX654 | c.1919_1932del | p.Gly640AspfsX15 |
0/600
| TFC+ | | Compound heterozygote: S295fsX300 and D640fsX654 |
Mutation details
|
| DSP | 13 | T564I | c.1691C>T | p.Thr564Ile |
0/600
| TFC+ | | |
Mutation details
|
| DSP | 20 | G939S | c.2815G>A | p.Gly939Ser |
0/600
| TFC+ | | |
Mutation details
|
| DSP | 23 | E1332fsX1346 | c.3995_3996delinsAATCGA | p.Ala1332GlufsX15 |
0/600
| TFC+ | | |
Mutation details
|
| DSP | 24 | R1934X | c.5800C>T | p.Arg1934X |
0/600
| TFC+ | | |
Mutation details
|
| DSP | 24 | W2000fsX2032 | c.5999_6000delinsG | p.Ser2000TrpfsX33 |
0/600
| TFC+ | | |
Mutation details
|
| DSP | 24 | R2284X | c.6850C>T | p.Arg2284X |
0/600
| TFC+ | | |
Mutation details
|
| DSP | 24 | E2343L | c.7027G>A | p.Glu2343Lys |
0/600
| TFC+ | | Digenic: PKP2 R490W and DSP E2343L |
Mutation details
|
| DSP | 24 | R2639W | c.7915C>T | p.Arg2639Trp |
0/600
| TFC+ | | |
Mutation details
|
| DSP | 24 | Q2667X | c.7999C>T | p.Gln2667X |
0/600
| TFC+ | | |
Mutation details
|
| JUP | 8 | E470L | c.1408G>A | p.Glu470Lys |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
2/600
| TFC+ | | Classified as polymorphism |
Mutation details
|
| PKP2 | 1 | S50fsX110 | c.148_151delACAG | p.Thr50SerfsX61 |
0/600
| TFC+; N=4 | | |
Mutation details
|
| PKP2 | 1 | E58D | c.174G>T | p.Glu58Asp |
0/600
| TFC+ | | Classified as polymorphism, based on Lahtinen's results |
Mutation details
|
| PKP2 | 1 | A65S | c.193G>T | p.Ala65Ser |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 1 | Splice | c.223+1G>A | r.spl? |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 2 | M85fsX110 | c.253_256del | p.Glu85MetfsX26 |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 2 | V87L | c.259G>C | p.Val87Leu |
0/600
| TFC+ | | Compound heterozygote: F197fsX215 and V87L |
Mutation details
|
| PKP2 | 2 | L92X | c.275T>A | p.Leu92X |
0/600
| TFC+; N=2 | | In one patient digenic: PKP2 L92X and DSG2 N326V |
Mutation details
|
| PKP2 | 2 | R101H | c.302G>A | p.Arg101His |
0/600
| TFC+ | | In one patient digenic: PKP2 R101H and c.523+2T>C (homozyogous) |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
0/600
| TFC+ | | homozygous; classified as genetic variant of unknown significance |
Mutation details
|
| PKP2 | 3 | F197fsX215 | c.587dup | p.Ser197PhefsX19 |
0/600
| TFC+ | | Compound heterozygote: F197fsX215 and V87L |
Mutation details
|
| PKP2 | 3 | P238L | c.713C>T | p.Pro238Leu |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 3 | A264V | c.791C>T | p.Ala264Val |
0/600
| TFC+ | | Digenic: PKP2 A264V and DSG2 I269T |
Mutation details
|
| PKP2 | 3 | R329fsX351 | c.987del | p.Ser329ArgfsX23 |
0/600
| TFC+; N=2 | | |
Mutation details
|
| PKP2 | 4 | Q378X | c.1132C>T | p.Gln378X |
0/600
| TFC+; N=2 | | |
Mutation details
|
| PKP2 | 4 | Splice | c.1170+1G>C | r.spl? |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 5 | R402fsX404 | c.1205del | p.Gln402ArgfsX3 |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 5 | G411fsX425 | c.1231dup | p.Val411GlyfsX15 |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 5 | R413X | c.1237C>T | p.Arg413X |
0/600
| TFC+; N=2 | | |
Mutation details
|
| PKP2 | 5 | Splice | c.1378+1G>C | r.spl? |
0/600
| TFC+; n=2 | | |
Mutation details
|
| PKP2 | 6 | R490W | c.1468C>T | p.Arg490Trp |
0/600
| TFC+; N=2 | | In one patient digenic: PKP2 R490W and DSP E2343L |
Mutation details
|
| PKP2 | 7 | L544fsX563 | c.1630_1631insTT | p.Pro544LeufsX20 |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 7 | V548fsX562 | c.1643delG | p.Gly548ValfsX15 |
0/600
| TFC+; n=3 | | Digenic: PKP2 V548fsX562 and DSC2 S868F |
Mutation details
|
| PKP2 | 7 | Splice | c.1688+1G>A | r.spl? |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 8 | Splice | c.1689-1G>C | r.spl? |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 8 | V587I | c.1759G>A | p.Val587Ile |
3/600
| TFC+ | | Classified as polymorphism |
Mutation details
|
| PKP2 | 9 | R651X | c.1951C>T | p.Arg651X |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 10 | Y686X | c.2058T>G | p.Tyr686X |
0/600
| TFC+ | | Digenic: PKP2 Y686X and DSG2 R146L |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-1G>C | r.spl |
0/600
| TFC+; n=7 | | |
Mutation details
|
| PKP2 | 11 | A733fsX740 | c.2197_2202delinsG | p.His733AlafsX8 |
0/600
| TFC+ | | |
Mutation details
|
| PKP2 | 12 | R811S | c.2431C>A | p.Arg811Ser |
0/600
| TFC+ | | Digenic: PKP2 R811S and DSG2 R46Q |
Mutation details
|
| PKP2 | 12 | Splice | c.2489+1G>A | r.spl |
0/600
| TFC+; n=3 | | |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/600
| TFC+ | | |
Mutation details
|