| 基因名 | 突变 |
|---|---|
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38964306C>G,c.4055C>G,p.A1352G |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38964275A>G,c.4024A>G,p.S1342G |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38964051C>G,c.3800C>G,p.P1267R |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38959655C>T,c.3431C>T,p.P1144L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38956757C>T,c.2897C>T,p.P966L |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38955304G>A,c.2812G>A,p.V938M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38951205G>A,c.2551G>A,p.V851M |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38949938G>A,c.2320G>A,p.G774R |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38948887G>A,c.2122G>A,p.D708N |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38939101G>A,c.907G>A,p.A303T |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38939066C>T,c.872C>T,p.A291V |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38939053G>A,c.859G>A,p.G287R |
| RYR1(NM_000540,ryanodine receptor 1 (skeletal),5038aa) | g.19:38931442T>C,c.103T>C,p.C35R |
| RYBP(NM_012234,RING1 and YY1 binding protein,218aa) | g.3:72428264G>A,c.331C>T,p.P111S |
| RXRG(NM_001256570,retinoid X receptor, gamma,340aa) | g.1:165370513A>G,c.1010T>C,p.L337P |
| RXRB(NM_001270401,retinoid X receptor, beta,537aa) | g.6:33167145A>G,c.284T>C,p.V95A |
| RXRB(NM_001270401,retinoid X receptor, beta,537aa) | g.6:33164320G>A,c.884C>T,p.A295V |
| RXRA(NM_002957,retinoid X receptor, alpha,462aa) | g.9:137313523C>T,c.782C>T,p.P261L |
| RXRA(NM_002957,retinoid X receptor, alpha,462aa) | g.9:137309155G>A,c.762G>A,p.M254I |
| RXRA(NM_002957,retinoid X receptor, alpha,462aa) | g.9:137300095T>C,c.380T>C,p.M127T |
| RXRA(NM_002957,retinoid X receptor, alpha,462aa) | g.9:137300076G>A,c.361G>A,p.A121T |
| RXRA(NM_002957,retinoid X receptor, alpha,462aa) | g.9:137300056A>G,c.341A>G,p.N114S |
| RXRA(NM_002957,retinoid X receptor, alpha,462aa) | g.9:137300016G>A,c.301G>A,p.V101I |
| RXRA(NM_002957,retinoid X receptor, alpha,462aa) | g.9:137293630A>G,c.181A>G,p.M61V |
| RXFP4(NM_181885,relaxin/insulin-like family peptide receptor 4,374aa) | g.1:155912579G>A,c.1079G>A,p.R360H |
| RXFP4(NM_181885,relaxin/insulin-like family peptide receptor 4,374aa) | g.1:155912569C>T,c.1069C>T,p.R357W |
| RXFP4(NM_181885,relaxin/insulin-like family peptide receptor 4,374aa) | g.1:155912486T>C,c.986T>C,p.L329S |
| RXFP4(NM_181885,relaxin/insulin-like family peptide receptor 4,374aa) | g.1:155912237G>A,c.737G>A,p.R246H |