| 基因名 | 突变 |
|---|---|
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12111090T>C,c.58T>C,p.F20L |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169952173G>C,c.856G>C,p.D286H |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169952053G>C,c.737-1G>C,p.246Acceptor |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169948397C>T,c.670C>T,p.L224F |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169940028G>A,c.503G>A,p.R168H |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169939914A>G,c.389A>G,p.Y130C |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169939874G>A,c.349G>A,p.G117S |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169939868G>A,c.343G>A,p.V115I |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169938347G>A,c.256G>A,p.D86N |
| DHRS9(NM_005771,dehydrogenase/reductase (SDR family) member 9,319aa) | g.2:169938323C>T,c.232C>T,p.R78C |
| DHRS7(NM_016029,dehydrogenase/reductase (SDR family) member 7,339aa) | g.14:60632014A>G,c.14T>C,p.L5P |
| DHRS7(NM_016029,dehydrogenase/reductase (SDR family) member 7,339aa) | g.14:60620711G>A,c.359C>T,p.A120V |
| DHRS7(NM_016029,dehydrogenase/reductase (SDR family) member 7,339aa) | g.14:60619742C>G,c.548G>C,p.G183A |
| DHRS7(NM_016029,dehydrogenase/reductase (SDR family) member 7,339aa) | g.14:60616886C>T,c.653G>A,p.R218Q |
| DHRS7(NM_016029,dehydrogenase/reductase (SDR family) member 7,339aa) | g.14:60616093A>G,c.950T>C,p.I317T |
| DHRS7C(NM_001220493,dehydrogenase/reductase (SDR family) member 7C,312aa) | g.17:9683193C>A,c.430G>T,p.D144Y |
| DHRS7C(NM_001220493,dehydrogenase/reductase (SDR family) member 7C,312aa) | g.17:9676134G>A,c.680C>T,p.S227L |
| DHRS7C(NM_001220493,dehydrogenase/reductase (SDR family) member 7C,312aa) | g.17:9676115C>G,c.699G>C,p.E233D |
| DHRS7C(NM_001220493,dehydrogenase/reductase (SDR family) member 7C,312aa) | g.17:9674858C>T,c.886G>A,p.A296T |
| DHRS7B(NM_015510,dehydrogenase/reductase (SDR family) member 7B,325aa) | g.17:21094425G>A,c.937G>A,p.A313T |
| DHRS7B(NM_015510,dehydrogenase/reductase (SDR family) member 7B,325aa) | g.17:21094350A>C,c.862A>C,p.I288L |
| DHRS7B(NM_015510,dehydrogenase/reductase (SDR family) member 7B,325aa) | g.17:21081599A>C,c.253A>C,p.N85H |
| DHRS7B(NM_015510,dehydrogenase/reductase (SDR family) member 7B,325aa) | g.17:21075425C>T,c.115C>T,p.R39W |
| DHRS4(NM_021004,dehydrogenase/reductase (SDR family) member 4,278aa) | g.14:24435564C>T,c.604C>T,p.P202S |
| DHRS4(NM_021004,dehydrogenase/reductase (SDR family) member 4,278aa) | g.14:24435037C>T,c.475C>T,p.R159X |
| DHRS4(NM_021004,dehydrogenase/reductase (SDR family) member 4,278aa) | g.14:24429180A>C,c.376A>C,p.I126L |
| DHRS4(NM_021004,dehydrogenase/reductase (SDR family) member 4,278aa) | g.14:24424333T>C,c.218T>C,p.V73A |
| DHRS4(NM_021004,dehydrogenase/reductase (SDR family) member 4,278aa) | g.14:24424281G>C,c.166G>C,p.G56R |