| 基因名 | 突变 |
|---|---|
| RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) | g.16:53653005G>C,c.3548C>G,p.A1183G |
| RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) | g.16:53639489C>T,c.3739G>A,p.E1247K |
| RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) | g.16:53639438C>T,c.3790G>A,p.D1264N |
| RPGRIP1L(NM_015272,RPGRIP1-like,1315aa) | g.16:53636097A>G,c.3839T>C,p.F1280S |
| RPF2(NM_032194,ribosome production factor 2 homolog (S. cerevisiae),306aa) | g.6:111346774A>T,c.910A>T,p.K304X |
| RPF2(NM_032194,ribosome production factor 2 homolog (S. cerevisiae),306aa) | g.6:111345507A>G,c.718A>G,p.M240V |
| RPF2(NM_032194,ribosome production factor 2 homolog (S. cerevisiae),306aa) | g.6:111320932A>G,c.335A>G,p.H112R |
| RPF2(NM_032194,ribosome production factor 2 homolog (S. cerevisiae),306aa) | g.6:111306307C>G,c.122C>G,p.A41G |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84962049A>G,c.1004A>G,p.H335R |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84961730T>G,c.865T>G,p.F289V |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84961119G>A,c.680G>A,p.R227H |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84961108G>A,c.669G>A,p.M223I |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84956035G>A,c.496G>A,p.V166I |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84948653C>A,c.341C>A,p.T114N |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84945034G>A,c.70G>A,p.E24K |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84944989A>G,c.25A>G,p.S9G |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84944978G>A,c.14G>A,p.G5E |
| RPF1(NM_025065,ribosome production factor 1 homolog (S. cerevisiae),349aa) | g.1:84944975C>T,c.11C>T,p.A4V |
| RPE(NM_001278283,ribulose-5-phosphate-3-epimerase,178aa) | g.2:210880943C>A,c.154C>A,p.Q52K |
| RPE(NM_001278283,ribulose-5-phosphate-3-epimerase,178aa) | g.2:210880819C>T,c.121C>T,p.R41W |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68912500del,c.138del,p.46fs |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68910541G>A,c.271C>T,p.R91W |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68910517C>T,c.295G>A,p.V99I |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68910347_68910348insA,c.361_362insT,p.121fs |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68910315C>T,c.394G>A,p.A132T |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68906582A>T,c.597T>A,p.N199K |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68904660A>C,c.963T>G,p.N321K |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68903931del,c.1067del,p.356fs |