| 基因名 | 突变 |
|---|---|
| NDUFAF5(NM_024120,NADH dehydrogenase (ubiquinone) complex I, assembly factor 5,345aa) | g.20:13782229C>T,c.617C>T,p.T206M |
| NDUFAF5(NM_024120,NADH dehydrogenase (ubiquinone) complex I, assembly factor 5,345aa) | g.20:13782174A>G,c.562A>G,p.M188V |
| NDUFAF5(NM_024120,NADH dehydrogenase (ubiquinone) complex I, assembly factor 5,345aa) | g.20:13775511A>G,c.403A>G,p.T135A |
| NDUFAF5(NM_024120,NADH dehydrogenase (ubiquinone) complex I, assembly factor 5,345aa) | g.20:13769298G>C,c.327G>C,p.K109N |
| NDUFAF4(NM_014165,NADH dehydrogenase (ubiquinone) complex I, assembly factor 4,175aa) | g.6:97344693C>A,c.167G>T,p.R56L |
| NDUFAF2(NM_174889,NADH dehydrogenase (ubiquinone) complex I, assembly factor 2,169aa) | g.5:60448723G>A,c.451G>A,p.G151S |
| NDUFAF2(NM_174889,NADH dehydrogenase (ubiquinone) complex I, assembly factor 2,169aa) | g.5:60368963C>T,c.139C>T,p.R47X |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41689232C>T,c.26G>A,p.R9H |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41689182G>C,c.76C>G,p.P26A |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41689166C>A,c.92G>T,p.R31L |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41689043G>C,c.215C>G,p.T72S |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41688896G>C,c.362C>G,p.A121G |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41688732C>T,c.526G>A,p.E176K |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41687108C>T,c.708G>A,p.M236I |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41679733A>G,c.893T>C,p.I298T |
| NDUFAF1(NM_016013,NADH dehydrogenase (ubiquinone) complex I, assembly factor 1,327aa) | g.15:41679685G>C,c.941C>G,p.A314G |
| NDUFAB1(NM_005003,NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa,156aa) | g.16:23598613G>A,c.196C>T,p.R66C |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4791451C>T,c.881C>T,p.P294L |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4791379G>A,c.809G>A,p.R270Q |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4771776G>C,c.630G>C,p.E210D |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4771747G>A,c.601G>A,p.V201I |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4768306C>T,c.515C>T,p.A172V |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4764054G>A,c.284G>A,p.R95H |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4763994G>A,c.224G>A,p.R75H |
| NDUFA9(NM_005002,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa,377aa) | g.12:4758299G>A,c.7G>A,p.A3T |
| NDUFA8(NM_014222,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa,172aa) | g.9:124914644T>C,c.95A>G,p.Y32C |
| NDUFA8(NM_014222,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa,172aa) | g.9:124914576G>A,c.163C>T,p.R55W |
| NDUFA8(NM_014222,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa,172aa) | g.9:124906635C>T,c.404G>A,p.R135Q |