| 基因名 | 突变 |
|---|---|
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39008322C>G,c.10009C>G,p.R3337G |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39008172C>T,c.9859C>T,p.R3287C |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38996559A>C,c.8514A>C,p.K2838N |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38995998C>G,c.8360C>G,p.T2787S |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38995965C>T,c.8327C>T,p.S2776F |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38995413T>C,c.8093T>C,p.M2698T |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38993351C>T,c.7819C>T,p.L2607F |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38993286C>T,c.7754C>T,p.T2585I |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38993180C>G,c.7648C>G,p.L2550V |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38991503C>T,c.7487C>T,p.P2496L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38991258G>A,c.7336G>A,p.G2446S |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38990456C>T,c.7209C>T,p.R2403R |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38989881A>G,c.7025A>G,p.N2342S |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38986923C>T,c.6617C>T,p.T2206M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38983214G>A,c.6212G>A,p.R2071Q |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38983180G>T,c.6178G>T,p.G2060C |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38980770T>A,c.5869T>A,p.S1957T |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38979903G>C,c.5634G>C,p.E1878D |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38976655C>T,c.5360C>T,p.P1787L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38976616C>T,c.5321C>T,p.P1774L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38976612C>T,c.5317C>T,p.P1773S |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38976582C>T,c.5287C>T,p.P1763S |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38976294C>T,c.4999C>T,p.R1667C |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38973933A>G,c.4711A>G,p.I1571V |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38966089C>T,c.4292C>T,p.T1431M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38966037G>A,c.4240G>A,p.V1414M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38966014C>T,c.4217C>T,p.T1406M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38965975A>G,c.4178A>G,p.K1393R |