| 基因名 | 突变 |
|---|---|
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34080515C>T,c.9686C>T,p.T3229M |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34072528C>G,c.9254C>G,p.P3085R |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34072417G>T,c.9143G>T,p.R3048L |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34064302A>G,c.8998A>G,p.I3000V |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34064288T>A,c.8984T>A,p.V2995E |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34049760G>A,c.8668G>A,p.G2890R |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34032130C>G,c.7754C>G,p.T2585R |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34032048C>A,c.7672C>A,p.L2558I |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34028492C>A,c.7481C>A,p.P2494Q |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34023720A>G,c.7249A>G,p.I2417V |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34018596A>G,c.6922A>G,p.T2308A |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34016315G>A,c.6850G>A,p.A2284T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34016274G>A,c.6809G>A,p.G2270E |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33999253A>C,c.6617A>C,p.N2206T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33990087A>G,c.6139A>G,p.I2047V |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33988683A>G,c.6125A>G,p.N2042S |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33955124G>A,c.5393G>A,p.R1798Q |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33955030G>A,c.5299G>A,p.E1767K |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33954809C>T,c.5078C>T,p.T1693M |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33954764A>G,c.5033A>G,p.D1678G |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33954667G>A,c.4936G>A,p.E1646K |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33954652C>T,c.4921C>T,p.R1641C |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33954490T>A,c.4759T>A,p.S1587T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33952555G>A,c.4553G>A,p.R1518H |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33944986C>T,c.4210C>T,p.R1404W |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33926883C>T,c.3124C>T,p.R1042C |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33922208A>C,c.2747A>C,p.K916T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:33905410A>G,c.2191A>G,p.I731V |