| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| JUP | 5'UTR | UTR | c.-88A>G | - |
26/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| JUP | 2 | Intronic | c.208+18_208+19delCG | - |
26/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| JUP | 3 | D71D | c.213T>C | p.= |
14/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| JUP | 3 | R142H | c.425G>A | p.Arg142His |
3/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| JUP | 5 | Intronic | c.909+17T>C | - |
11/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| JUP | 12 | V648I | c.1942G>A | p.Val648Ile |
2/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| JUP | 12 | Intronic | c.2046+22A>G | - |
21/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| JUP | 14 | M697L | c.2089A>T | p.Met697Leu |
21/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
1/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 1 | S70I | c.209G>T | p.Ser70Ile |
2/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 3 | S140F | c.419C>T | p.Ser140Phe |
1/76
| BS | | reported as polymorphism; 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 4 | L366P | c.1097T>C | p.Leu366Pro |
12/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 11 | Intronic | c.2299+7C>T | - |
1/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 12 | Intronic | c.2489+14insC | - |
17/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 14 | Intronic | c.2578-60C>A | - |
2/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|
| PKP2 | 14 | Intronic | c.2578-69G>A | - |
24/76
| BS | | 38 Brugada syndrome probands were studied, i.e. not healthy controls. |
Mutation details
|