| 基因名 | 突变 |
|---|---|
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8159884C>G,c.362G>C,p.G121A |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8159857C>T,c.389G>A,p.C130Y |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8159843G>A,c.403C>T,p.P135S |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8148287C>A,c.589G>T,p.V197F |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8148223T>C,c.653A>G,p.Y218C |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8132598G>C,c.757C>G,p.P253A |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8132421C>T,c.934G>A,p.D312N |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8132301C>T,c.1054G>A,p.D352N |
| RIC3(NM_001206671,RIC3 acetylcholine receptor chaperone,369aa) | g.11:8132288G>A,c.1067C>T,p.T356I |
| RIBC1(NM_144968,RIB43A domain with coiled-coils 1,192aa) | g.X:53455353G>A,c.322G>A,p.G108R |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33517515C>T,c.209G>A,p.R70Q |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33502699G>A,c.479C>T,p.T160M |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33493884G>C,c.783C>G,p.D261E |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33493842C>A,c.825G>T,p.M275I |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33493835C>T,c.832G>A,p.V278M |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33493282C>T,c.976G>A,p.A326T |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33493200G>A,c.1058C>T,p.A353V |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33490585G>A,c.1132C>T,p.Q378X |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33490566T>C,c.1151A>G,p.Q384R |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33490500C>T,c.1217G>A,p.R406Q |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33487000C>T,c.1352G>A,p.R451Q |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33486989C>T,c.1363G>A,p.A455T |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33486941T>C,c.1411A>G,p.S471G |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33482821G>A,c.1552C>T,p.R518C |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33482788T>A,c.1585A>T,p.T529S |
| RHPN2(NM_033103,rhophilin, Rho GTPase binding protein 2,686aa) | g.19:33481473C>T,c.1747G>A,p.E583K |
| RHPN1(NM_052924,rhophilin, Rho GTPase binding protein 1,670aa) | g.8:144464616G>A,c.1808G>A,p.R603Q |
| RHPN1(NM_052924,rhophilin, Rho GTPase binding protein 1,670aa) | g.8:144464088G>A,c.1747G>A,p.A583T |