| 基因名 | 突变 |
|---|---|
| NDUFB4(NM_001168331,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa,120aa) | g.3:120315321A>G,c.115A>G,p.I39V |
| NDUFB4(NM_001168331,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa,120aa) | g.3:120315283C>T,c.77C>T,p.S26F |
| NDUFB4(NM_001168331,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa,120aa) | g.3:120315277A>G,c.71A>G,p.N24S |
| NDUFB3(NM_001257102,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa,98aa) | g.2:201943624C>T,c.19C>T,p.H7Y |
| NDUFB2(NM_004546,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa,105aa) | g.7:140402754G>A,c.187G>A,p.G63R |
| NDUFB2(NM_004546,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa,105aa) | g.7:140396561G>T,c.17G>T,p.R6L |
| NDUFB1(NM_004545,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa,105aa) | g.14:92583927T>A,c.196A>T,p.M66L |
| NDUFB1(NM_004545,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa,105aa) | g.14:92583881C>T,c.242G>A,p.R81Q |
| NDUFB1(NM_004545,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa,105aa) | g.14:92583867G>A,c.256C>T,p.R86W |
| NDUFB11(NM_019056,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa,163aa) | g.X:47002101C>T,c.250G>A,p.V84I |
| NDUFB11(NM_019056,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa,163aa) | g.X:47002007G>A,c.344C>T,p.T115I |
| NDUFB10(NM_004548,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa,172aa) | g.16:2011202G>A,c.179G>A,p.R60Q |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37475421T>A,c.1254T>A,p.Y418X |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37475368A>G,c.1201A>G,p.R401G |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37474622T>A,c.960T>A,p.H320Q |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37473201G>A,c.799G>A,p.E267K |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37471114C>A,c.790C>A,p.Q264K |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37471025G>A,c.701G>A,p.R234Q |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37469792C>G,c.637C>G,p.L213V |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37468757G>A,c.445G>A,p.D149N |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37459308C>G,c.115C>G,p.P39A |
| NDUFAF7(NM_144736,NADH dehydrogenase (ubiquinone) complex I, assembly factor 7,441aa) | g.2:37458898G>A,c.50G>A,p.R17H |
| NDUFAF6(NM_152416,NADH dehydrogenase (ubiquinone) complex I, assembly factor 6,333aa) | g.8:96064423G>A,c.838G>A,p.V280I |
| NDUFAF6(NM_152416,NADH dehydrogenase (ubiquinone) complex I, assembly factor 6,333aa) | g.8:96047806_96047807insA,c.420+2insA,p.140Donorins |
| NDUFAF6(NM_152416,NADH dehydrogenase (ubiquinone) complex I, assembly factor 6,333aa) | g.8:96047755T>C,c.371T>C,p.I124T |
| NDUFAF6(NM_152416,NADH dehydrogenase (ubiquinone) complex I, assembly factor 6,333aa) | g.8:96037319G>C,c.83G>C,p.G28A |
| NDUFAF5(NM_024120,NADH dehydrogenase (ubiquinone) complex I, assembly factor 5,345aa) | g.20:13782280A>G,c.668A>G,p.N223S |
| NDUFAF5(NM_024120,NADH dehydrogenase (ubiquinone) complex I, assembly factor 5,345aa) | g.20:13782279A>C,c.667A>C,p.N223H |