| 基因名 | 突变 |
|---|---|
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33895346G>C,c.1945G>C,p.G649R |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33893659G>A,c.1828G>A,p.V610I |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33873751G>A,c.1480G>A,p.V494I |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33872281G>A,c.1373G>A,p.R458Q |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33872185A>G,c.1277A>G,p.N426S |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33855138T>C,c.1073T>C,p.I358T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33842404C>T,c.859C>T,p.R287W |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33831643G>A,c.526G>A,p.V176M |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33825575C>T,c.418C>T,p.R140W |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33795934G>A,c.274G>A,p.E92K |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237947931C>T,c.12919C>T,p.R4307C |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237947871T>C,c.12859T>C,p.Y4287H |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237868632G>A,c.9569G>A,p.R3190Q |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237862282A>G,c.9085A>G,p.I3029V |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237841390A>G,c.8873A>G,p.Q2958R |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237814784G>A,c.7807G>A,p.A2603T |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237787071A>G,c.5923A>G,p.M1975V |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237778084G>A,c.5656G>A,p.G1886S |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237778082G>A,c.5654G>A,p.G1885E |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237777474A>C,c.5046A>C,p.E1682D |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237765380A>G,c.4652A>G,p.N1551S |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237756821G>A,c.4321G>A,p.V1441I |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237755076A>G,c.4198A>G,p.S1400G |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237754226C>T,c.4094C>T,p.A1365V |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237730059C>T,c.3407C>T,p.A1136V |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237730032A>G,c.3380A>G,p.E1127G |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237729972C>T,c.3320C>T,p.T1107M |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237711862G>A,c.3038G>A,p.R1013Q |