| 基因名 | 突变 |
|---|---|
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57348789C>T,c.473G>A,p.R158H |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57348753G>A,c.509C>T,p.S170L |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57346752del,c.595del,p.199fs |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57346629C>T,c.718G>A,p.E240K |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57346010T>C,c.757A>G,p.M253V |
| RDH16(NM_003708,retinol dehydrogenase 16 (all-trans),317aa) | g.12:57345997C>T,c.770G>A,p.C257Y |
| RDH14(NM_020905,retinol dehydrogenase 14 (all-trans/9-cis/11-cis),336aa) | g.2:18741753A>T,c.86T>A,p.V29D |
| RDH14(NM_020905,retinol dehydrogenase 14 (all-trans/9-cis/11-cis),336aa) | g.2:18736771G>A,c.697C>T,p.R233C |
| RDH14(NM_020905,retinol dehydrogenase 14 (all-trans/9-cis/11-cis),336aa) | g.2:18736630C>T,c.838G>A,p.V280I |
| RDH14(NM_020905,retinol dehydrogenase 14 (all-trans/9-cis/11-cis),336aa) | g.2:18736564A>G,c.904T>C,p.Y302H |
| RDH13(NM_138412,retinol dehydrogenase 13 (all-trans/9-cis),260aa) | g.19:55568085G>T,c.63C>A,p.N21K |
| RDH13(NM_138412,retinol dehydrogenase 13 (all-trans/9-cis),260aa) | g.19:55568084C>T,c.64G>A,p.A22T |
| RDH13(NM_138412,retinol dehydrogenase 13 (all-trans/9-cis),260aa) | g.19:55568059A>C,c.89T>G,p.L30R |
| RDH13(NM_138412,retinol dehydrogenase 13 (all-trans/9-cis),260aa) | g.19:55568048G>C,c.100C>G,p.R34G |
| RDH13(NM_138412,retinol dehydrogenase 13 (all-trans/9-cis),260aa) | g.19:55556574G>C,c.651C>G,p.F217L |
| RDH13(NM_138412,retinol dehydrogenase 13 (all-trans/9-cis),260aa) | g.19:55556573C>T,c.652G>A,p.D218N |
| RDH13(NM_138412,retinol dehydrogenase 13 (all-trans/9-cis),260aa) | g.19:55556534C>T,c.691G>A,p.D231N |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68196055C>G,c.806C>G,p.A269G |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68196029G>T,c.780G>T,p.E260D |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68193826C>T,c.577C>T,p.R193C |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68193820G>A,c.571G>A,p.E191K |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68193779C>T,c.530C>T,p.A177V |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68193773C>T,c.524C>T,p.S175L |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68193731G>A,c.482G>A,p.R161Q |
| RDH12(NM_152443,retinol dehydrogenase 12 (all-trans/9-cis/11-cis),316aa) | g.14:68192861T>A,c.437T>A,p.V146D |
| RDH11(NM_016026,retinol dehydrogenase 11 (all-trans/9-cis/11-cis),318aa) | g.14:68159269C>T,c.235G>A,p.E79K |
| RDH11(NM_016026,retinol dehydrogenase 11 (all-trans/9-cis/11-cis),318aa) | g.14:68156995G>C,c.598C>G,p.L200V |
| RDH11(NM_016026,retinol dehydrogenase 11 (all-trans/9-cis/11-cis),318aa) | g.14:68156965T>C,c.628A>G,p.I210V |