| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
9/1300
| | | Found in 3 patients (p=0.05); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role. |
Mutation details
|
| PKP2 | 1 | E58D | c.174G>T | p.Glu58Asp |
0/0
| | | Found in 1/106 patient alleles |
Mutation details
|
| PKP2 | 1 | Q62K | c.184C>A | p.Gln62Lys |
0/1300
| TFC+; 2 patients | | A clinically affected brother of one patient does not carrry the mutation. The pathogeneity cannot be established with certainty due to lack of change in amino acid polarity. |
Mutation details
|
| PKP2 | 1 | S70I | c.209G>T | p.Ser70Ile |
0/0
| | | Found in 3/106 patient alleles |
Mutation details
|
| PKP2 | 2 | R79X | c.235C>T | p.Arg79X |
0/0
| TFC+ | | |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
5/1300
| | | Found in 3 patients (p=0.02); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role. |
Mutation details
|
| PKP2 | 3 | E329fsX352 | c.982_983dupGG | p.Ser329GlufsX24 |
0/1300
| TFC+ | | |
Mutation details
|
| PKP2 | 3 | T338A | c.1012A>G | p.Thr338Ala |
1/1300
| | | Patient also carries PKP2 D26N |
Mutation details
|
| PKP2 | 4 | L366P | c.1097T>C | p.Leu366Pro |
0/0
| | | Found in 19/106 patient alleles; 5 were homozygous |
Mutation details
|
| PKP2 | 5 | P401fsX406 | c.1202_1209del8 | p.Leu401ProfsX6 |
0/1300
| TFC+ | | |
Mutation details
|
| PKP2 | 6 | G489R | c.1465G>A | p.Gly489Arg |
0/1300
| TFC+ | | The pathogeneity cannot be established with certainty due to location in a nonconserved region. |
Mutation details
|
| PKP2 | 7 | I531S | c.1592T>G | p.Ile531Ser |
0/0
| | | Found in 1/106 patient alleles |
Mutation details
|
| PKP2 | 8 | V587I | c.1759G>A | p.Val587Ile |
3/1300
| | | Found in 1 of 53 patients (p=0.27); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role. |
Mutation details
|
| PKP2 | 10 | G673V | c.2018G>T | p.Gly673Val |
0/1300
| TFC+ | | The pathogeneity cannot be established with certainty due to lack of change in amino acid polarity. |
Mutation details
|
| PKP2 | 11 | Splice | c.2146-2A>T | r.spl? |
0/1300
| TFC+ | | Predicted to abolish the highly conserved splice acceptor site and introduces a cryptic splice acceptor site further downstream. |
Mutation details
|