| 基因名 | 突变 |
|---|---|
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466089G>C,c.5519C>G,p.A1840G |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10466002G>C,c.5606C>G,p.P1869R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465942T>A,c.5666A>T,p.D1889V |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465847T>G,c.5761A>C,p.S1921R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465771G>T,c.5837C>A,p.A1946E |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465748T>C,c.5860A>G,p.T1954A |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465721A>C,c.5887T>G,p.S1963A |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465649G>A,c.5959C>T,p.Q1987X |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465544C>T,c.6064G>A,p.G2022S |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465399T>A,c.6209A>T,p.E2070V |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465344C>A,c.6264G>T,p.Q2088H |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465190C>T,c.6418G>A,p.E2140K |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465177T>G,c.6431A>C,p.E2144A |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465152A>C,c.6456T>G,p.D2152E |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465140C>A,c.6468G>T,p.E2156D |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465097C>T,c.6511G>A,p.E2171K |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465063G>T,c.6545C>A,p.A2182D |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10465012G>A,c.6596C>T,p.P2199L |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10464964G>A,c.6644C>T,p.P2215L |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10464755C>T,c.6853G>A,p.G2285R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10464616G>A,c.6992C>T,p.T2331M |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10464604T>C,c.7004A>G,p.H2335R |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10464405C>G,c.7203G>C,p.X2401Y |
| ROS1(NM_002944,c-ros oncogene 1 , receptor tyrosine kinase,2347aa) | g.6:117746782T>C,c.38A>G,p.N13S |
| ROS1(NM_002944,c-ros oncogene 1 , receptor tyrosine kinase,2347aa) | g.6:117725448T>G,c.433A>C,p.T145P |
| ROS1(NM_002944,c-ros oncogene 1 , receptor tyrosine kinase,2347aa) | g.6:117724379C>T,c.500G>A,p.R167Q |
| ROS1(NM_002944,c-ros oncogene 1 , receptor tyrosine kinase,2347aa) | g.6:117718187G>A,c.670C>T,p.P224S |
| ROS1(NM_002944,c-ros oncogene 1 , receptor tyrosine kinase,2347aa) | g.6:117715476T>C,c.1013A>G,p.Y338C |