| 基因名 | 突变 |
|---|---|
| RPA2(NM_002946,replication protein A2, 32kDa,270aa) | g.1:28240648C>T,c.43G>A,p.G15R |
| RPA1(NM_002945,replication protein A1, 70kDa,616aa) | g.17:1795205G>A,c.1630G>A,p.A544T |
| RPA1(NM_002945,replication protein A1, 70kDa,616aa) | g.17:1795180T>C,c.1605T>C,p.S535S |
| RPA1(NM_002945,replication protein A1, 70kDa,616aa) | g.17:1787164G>A,c.1300G>A,p.G434R |
| RPA1(NM_002945,replication protein A1, 70kDa,616aa) | g.17:1782952A>G,c.1051A>G,p.T351A |
| RPA1(NM_002945,replication protein A1, 70kDa,616aa) | g.17:1782605G>A,c.856G>A,p.V286I |
| RP9(NM_203288,retinitis pigmentosa 9 (autosomal dominant),221aa) | g.7:33134883T>C,c.629A>G,p.K210R |
| RP2(NM_006915,retinitis pigmentosa 2 (X-linked recessive),350aa) | g.X:46719498C>T,c.844C>T,p.R282W |
| RP2(NM_006915,retinitis pigmentosa 2 (X-linked recessive),350aa) | g.X:46713559A>G,c.751A>G,p.R251G |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55542540G>A,c.6098G>A,p.C2033Y |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55542239C>T,c.5797C>T,p.R1933X |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55542066G>C,c.5624G>C,p.G1875A |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55541819C>T,c.5377C>T,p.P1793S |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55541738A>C,c.5296A>C,p.N1766H |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55541513T>C,c.5071T>C,p.S1691P |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55541450G>A,c.5008G>A,p.A1670T |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55541273C>A,c.4831C>A,p.P1611T |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55541226G>A,c.4784G>A,p.R1595Q |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55541208C>T,c.4766C>T,p.S1589F |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55540749C>T,c.4307C>T,p.S1436F |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55540031A>G,c.3589A>G,p.S1197G |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55539630A>G,c.3188A>G,p.Q1063R |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55539570del,c.3128del,p.1043fs |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55539395A>T,c.2953A>T,p.N985Y |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55539393A>G,c.2951A>G,p.D984G |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55539347A>G,c.2905A>G,p.M969V |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55539275G>T,c.2833G>T,p.V945L |
| RP1(NM_006269,retinitis pigmentosa 1 (autosomal dominant),2156aa) | g.8:55539057G>A,c.2615G>A,p.R872H |