| 基因名 | 突变 |
|---|---|
| OGFOD3(NM_175902,2-oxoglutarate and iron-dependent oxygenase domain containing 3,331aa) | g.17:80361914C>T,c.598G>A,p.A200T |
| OGFOD3(NM_175902,2-oxoglutarate and iron-dependent oxygenase domain containing 3,331aa) | g.17:80352392C>T,c.851G>A,p.C284Y |
| OGFOD3(NM_175902,2-oxoglutarate and iron-dependent oxygenase domain containing 3,331aa) | g.17:80352303G>A,c.940C>T,p.P314S |
| OGFOD3(NM_175902,2-oxoglutarate and iron-dependent oxygenase domain containing 3,331aa) | g.17:80352300C>T,c.943G>A,p.E315K |
| OGFOD2(NM_024623,2-oxoglutarate and iron-dependent oxygenase domain containing 2,290aa) | g.12:123463633C>T,c.613C>T,p.P205S |
| OGFOD2(NM_024623,2-oxoglutarate and iron-dependent oxygenase domain containing 2,290aa) | g.12:123463457T>A,c.509T>A,p.L170Q |
| OGFOD2(NM_024623,2-oxoglutarate and iron-dependent oxygenase domain containing 2,290aa) | g.12:123463031T>C,c.266T>C,p.F89S |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56508787G>A,c.1333G>A,p.G445S |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56504532_56504534del,c.1114_1116del,p.372del |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56501176A>G,c.757A>G,p.I253V |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56501116A>G,c.697A>G,p.I233V |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56500820C>T,c.598C>T,p.L200F |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56500141A>G,c.526A>G,p.R176G |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56500132C>T,c.517C>T,p.P173S |
| OGFOD1(NM_018233,2-oxoglutarate and iron-dependent oxygenase domain containing 1,542aa) | g.16:56487188G>A,c.168G>A,p.M56I |
| OGDH(NM_002541,oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide),1023aa) | g.7:44747578G>A,c.3052G>A,p.V1018I |
| OGDH(NM_002541,oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide),1023aa) | g.7:44739768A>G,c.2459A>G,p.N820S |
| OGDH(NM_002541,oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide),1023aa) | g.7:44739767A>T,c.2458A>T,p.N820Y |
| OGDH(NM_002541,oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide),1023aa) | g.7:44739761G>A,c.2452G>A,p.D818N |
| OGDH(NM_002541,oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide),1023aa) | g.7:44714134G>A,c.913G>A,p.V305M |
| OGDH(NM_002541,oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide),1023aa) | g.7:44664106C>T,c.164C>T,p.S55L |
| OGDH(NM_002541,oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide),1023aa) | g.7:44663949C>T,c.7C>T,p.H3Y |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50964886C>T,c.311G>A,p.R104Q |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50960231A>G,c.542T>C,p.I181T |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50959962C>G,c.660G>C,p.W220C |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50958895T>A,c.886A>T,p.M296L |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50955223A>G,c.1019T>C,p.M340T |
| OGDHL(NM_018245,oxoglutarate dehydrogenase-like,1010aa) | g.10:50953963G>A,c.1357C>T,p.R453W |