| 基因名 | 突变 |
|---|---|
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467652G>A,c.3956C>T,p.A1319V |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467647G>C,c.3961C>G,p.Q1321E |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467637T>C,c.3971A>G,p.E1324G |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467629T>C,c.3979A>G,p.T1327A |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467628G>A,c.3980C>T,p.T1327I |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467626C>T,c.3982G>A,p.E1328K |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467625T>A,c.3983A>T,p.E1328V |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467605C>T,c.4003G>A,p.G1335R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467604C>A,c.4004G>T,p.G1335V |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467589T>C,c.4019A>G,p.E1340G |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467577G>A,c.4031C>T,p.T1344I |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467389C>T,c.4219G>A,p.G1407R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467335C>G,c.4273G>C,p.D1425H |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467278C>T,c.4330G>A,p.A1444T |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467207C>A,c.4401G>T,p.R1467S |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467164C>T,c.4444G>A,p.G1482R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467160G>A,c.4448C>T,p.A1483V |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10467124G>C,c.4484C>G,p.P1495R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466978G>A,c.4630C>T,p.R1544C |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466946G>C,c.4662C>G,p.D1554E |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466819C>T,c.4789G>A,p.G1597R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466771G>T,c.4837C>A,p.L1613M |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466744G>A,c.4864C>T,p.R1622W |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466743C>T,c.4865G>A,p.R1622Q |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466482G>A,c.5126C>T,p.A1709V |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466476C>G,c.5132G>C,p.G1711A |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466429C>T,c.5179G>A,p.E1727K |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466161C>T,c.5447G>A,p.G1816D |