| 基因名 | 突变 |
|---|---|
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237711849C>T,c.3025C>T,p.R1009W |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237666765C>T,c.2573C>T,p.T858M |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237664108G>T,c.2301G>T,p.S767S |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237619934G>A,c.1511G>A,p.R504H |
| RYR2(NM_001035,ryanodine receptor 2 (cardiac),4967aa) | g.1:237604748G>A,c.1135G>A,p.V379M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39076791G>C,c.14929G>C,p.E4977Q |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39076780C>T,c.14918C>T,p.P4973L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39071100G>A,c.14602G>A,p.E4868K |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39068667C>T,c.14282C>T,p.P4761L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39066597G>A,c.14168G>A,p.R4723H |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39063947C>T,c.14129C>T,p.P4710L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39057626G>C,c.13513G>C,p.D4505H |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39057615C>T,c.13502C>T,p.P4501L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39055858C>T,c.12884C>T,p.A4295V |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39039020C>T,c.12242C>T,p.T4081M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39034444C>T,c.11941C>T,p.H3981Y |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39034191A>G,c.11798A>G,p.Y3933C |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39026638G>A,c.11518G>A,p.V3840I |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39025959A>T,c.11443A>T,p.M3815L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39025366C>G,c.11266C>G,p.Q3756E |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39018347G>C,c.10747G>C,p.E3583Q |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39018342G>A,c.10742G>A,p.G3581D |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39017670A>T,c.10664A>T,p.N3555I |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39014556C>T,c.10442C>T,p.A3481V |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39010024G>A,c.10189G>A,p.E3397K |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39009932G>A,c.10097G>A,p.R3366H |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39009881C>G,c.10046C>G,p.A3349G |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:39009877C>T,c.10042C>T,p.R3348C |