| 基因名 | 突变 |
|---|---|
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55538697C>T,c.2255C>T,p.T752M |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55538558G>C,c.2116G>C,p.G706R |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55537560C>T,c.1118C>T,p.T373I |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55537278C>T,c.836C>T,p.S279F |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55534013G>A,c.487G>A,p.D163N |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55533950G>T,c.424G>T,p.V142L |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480680G>A,c.32C>T,p.P11L |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480582G>C,c.130C>G,p.P44A |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480555C>T,c.157G>A,p.V53I |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480546G>A,c.166C>T,p.R56C |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480501G>A,c.211C>T,p.R71C |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480477G>A,c.235C>T,p.R79C |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480476C>T,c.236G>A,p.R79H |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480423C>G,c.289G>C,p.E97Q |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480387_10480388insA,c.324_325insT,p.108fs |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480377G>C,c.335C>G,p.T112S |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480375G>A,c.337C>T,p.P113S |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480305C>T,c.407G>A,p.R136H |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480295_10480296insG,c.416_417insC,p.139fs |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480257C>T,c.455G>A,p.R152Q |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480225G>C,c.487C>G,p.R163G |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480165C>T,c.547G>A,p.G183S |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480144G>A,c.568C>T,p.R190C |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10480101A>G,c.609+2T>C,p.203Donor |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10474085G>T,c.622C>A,p.Q208K |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10474042T>G,c.665A>C,p.H222P |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10474037C>T,c.670G>A,p.A224T |
| RP1L1(NM_178857,retinitis pigmentosa 1-like 1,2400aa) | g.8:10470815G>C,c.793C>G,p.R265G |