| 基因名 | 突变 |
|---|---|
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68897243G>A,c.1154C>T,p.T385M |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68897159C>T,c.1238G>A,p.R413H |
| RPE65(NM_000329,retinal pigment epithelium-specific protein 65kDa,533aa) | g.1:68897002G>A,c.1301C>T,p.A434V |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48096545C>T,c.79G>A,p.D27N |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48091499G>A,c.298C>T,p.R100C |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48091473G>T,c.324C>A,p.D108E |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48091454G>C,c.343C>G,p.L115V |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48091448G>C,c.349C>G,p.Q117E |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48090135T>C,c.469A>G,p.T157A |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48073348A>C,c.1215T>G,p.D405E |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48073283C>T,c.1280G>A,p.G427E |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48064110T>A,c.1306A>T,p.I436F |
| RPAP3(NM_024604,RNA polymerase II associated protein 3,665aa) | g.12:48062824T>A,c.1588A>T,p.I530L |
| RPAP2(NM_024813,RNA polymerase II associated protein 2,612aa) | g.1:92811435C>T,c.1652C>T,p.A551V |
| RPAP2(NM_024813,RNA polymerase II associated protein 2,612aa) | g.1:92801975G>A,c.1610G>A,p.R537Q |
| RPAP2(NM_024813,RNA polymerase II associated protein 2,612aa) | g.1:92789639G>A,c.1162G>A,p.G388S |
| RPAP2(NM_024813,RNA polymerase II associated protein 2,612aa) | g.1:92789235G>A,c.758G>A,p.G253D |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41829316G>A,c.8C>T,p.S3L |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41829267A>C,c.57T>G,p.S19R |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41829206C>T,c.118G>A,p.G40S |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41829178G>A,c.146C>T,p.P49L |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41828412C>T,c.335G>A,p.R112Q |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41827757T>A,c.494A>T,p.K165M |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41827745A>G,c.506T>C,p.V169A |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41827128C>T,c.547G>A,p.V183M |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41827100T>C,c.575A>G,p.N192S |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41823362T>A,c.802A>T,p.T268S |
| RPAP1(NM_015540,RNA polymerase II associated protein 1,1393aa) | g.15:41822163C>T,c.958G>A,p.V320M |