| 基因名 | 突变 |
|---|---|
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38182130T>C,c.223A>G,p.I75V |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38164037G>C,c.785C>G,p.A262G |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38160526T>C,c.1033A>G,p.N345D |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38158291G>A,c.1163C>T,p.A388V |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38156677C>T,c.1274G>A,p.R425K |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38156669G>C,c.1282C>G,p.L428V |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38156660T>C,c.1291A>G,p.I431V |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38156584T>C,c.1367A>G,p.Q456R |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38147286_38147288del,c.1579_1581del,p.527del |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38147269G>A,c.1598C>T,p.T533M |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38147170C>T,c.1697G>A,p.G566E |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38146195A>T,c.2057T>A,p.M686K |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38145911C>T,c.2341G>A,p.A781T |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38145646T>C,c.2606A>G,p.E869G |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38145444T>A,c.2808A>T,p.E936D |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38145190A>T,c.3062T>A,p.V1021E |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38145181_38145192del,c.3060_3071del,p.1020_1024del |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38145167_38145178del,c.3074_3085del,p.1025_1029del |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38145021A>T,c.3231T>A,p.N1077K |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38144901C>G,c.3351G>C,p.E1117D |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38144822C>T,c.3430G>A,p.V1144I |
| RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) | g.14:21811196A>G,c.3341A>G,p.D1114G |
| RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) | g.14:21798478A>T,c.3170A>T,p.H1057L |
| RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) | g.14:21796784G>C,c.3097G>C,p.E1033Q |
| RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) | g.14:21795949G>C,c.2878G>C,p.A960P |
| RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) | g.14:21794177G>A,c.2555G>A,p.R852Q |
| RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) | g.14:21794057G>A,c.2435G>A,p.R812Q |
| RPGRIP1(NM_020366,retinitis pigmentosa GTPase regulator interacting protein 1,1286aa) | g.14:21792816C>T,c.1802C>T,p.S601L |