| 基因名 | 突变 |
|---|---|
| RDM1(NM_145654,RAD52 motif 1,284aa) | g.17:34251718G>A,c.458C>T,p.P153L |
| RDM1(NM_145654,RAD52 motif 1,284aa) | g.17:34247232C>T,c.712G>A,p.V238I |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10132405A>T,c.976A>T,p.T326S |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10132402C>A,c.973C>A,p.P325T |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10132318T>C,c.889T>C,p.Y297H |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10132000G>A,c.666G>A,p.M222I |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10131999T>C,c.665T>C,p.M222T |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10131406A>T,c.524A>T,p.Y175F |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10129552C>G,c.468C>G,p.H156Q |
| RDH8(NM_015725,retinol dehydrogenase 8 (all-trans),331aa) | g.19:10124207G>A,c.94G>A,p.G32S |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56117812G>T,c.712G>T,p.G238W |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56117696G>A,c.596G>A,p.R199Q |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115585C>T,c.423C>T,p.I141I |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115556G>A,c.394G>A,p.V132M |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115502G>A,c.340G>A,p.V114M |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115233G>A,c.265G>A,p.V89I |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115192G>A,c.224G>A,p.R75H |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115150del,c.182del,p.61fs |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115129G>A,c.161G>A,p.R54Q |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115065A>G,c.97A>G,p.I33V |
| RDH5(NM_001199771,retinol dehydrogenase 5 (11-cis/9-cis),318aa) | g.12:56115030G>A,c.62G>A,p.R21Q |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57351192G>A,c.55C>T,p.R19W |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57351191C>T,c.56G>A,p.R19Q |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57351020C>A,c.227G>T,p.R76M |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57350972G>A,c.275C>T,p.A92V |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57350967C>T,c.280G>A,p.A94T |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57350945A>G,c.302T>C,p.V101A |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57348871C>T,c.391G>A,p.V131M |