| 基因名 | 突变 |
|---|---|
| NDUFS5(NM_004552,NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase),106aa) | g.1:39494484G>A,c.88G>A,p.A30T |
| NDUFS5(NM_004552,NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase),106aa) | g.1:39494442C>G,c.46C>G,p.R16G |
| NDUFS4(NM_002495,NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase),175aa) | g.5:52942163A>G,c.278A>G,p.N93S |
| NDUFS4(NM_002495,NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase),175aa) | g.5:52899282G>T,c.99G>T,p.R33S |
| NDUFS3(NM_004551,NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase),264aa) | g.11:47605974C>T,c.736C>T,p.R246C |
| NDUFS3(NM_004551,NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase),264aa) | g.11:47603733G>C,c.475G>C,p.V159L |
| NDUFS2(NM_001166159,NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase),457aa) | g.1:161183681C>T,c.1324C>T,p.H442Y |
| NDUFS2(NM_001166159,NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase),457aa) | g.1:161182208C>G,c.1054C>G,p.P352A |
| NDUFS2(NM_001166159,NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase),457aa) | g.1:161180482G>A,c.968G>A,p.R323Q |
| NDUFS2(NM_001166159,NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase),457aa) | g.1:161172233C>A,c.58C>A,p.P20T |
| NDUFS1(NM_005006,NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase),727aa) | g.2:207014618C>T,c.185G>A,p.R62Q |
| NDUFS1(NM_005006,NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase),727aa) | g.2:207003316C>T,c.1285G>A,p.V429M |
| NDUFS1(NM_005006,NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase),727aa) | g.2:207003310G>C,c.1291C>G,p.L431V |
| NDUFS1(NM_005006,NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase),727aa) | g.2:207003231G>A,c.1370C>T,p.S457L |
| NDUFS1(NM_005006,NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase),727aa) | g.2:207003221A>C,c.1380T>G,p.H460Q |
| NDUFS1(NM_005006,NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase),727aa) | g.2:206991447T>C,c.2006A>G,p.N669S |
| NDUFC2(NM_004549,NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa,119aa) | g.11:77781037C>T,c.356G>A,p.R119H |
| NDUFB9(NM_005005,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa,179aa) | g.8:125562065C>G,c.472C>G,p.R158G |
| NDUFB9(NM_005005,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa,179aa) | g.8:125562029C>T,c.436C>T,p.P146S |
| NDUFB9(NM_005005,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa,179aa) | g.8:125559332G>A,c.386G>A,p.R129Q |
| NDUFB9(NM_005005,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa,179aa) | g.8:125555387A>T,c.161A>T,p.E54V |
| NDUFB8(NM_005004,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa,186aa) | g.10:102286179C>T,c.445G>A,p.V149M |
| NDUFB7(NM_004146,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa,137aa) | g.19:14682725C>A,c.88G>T,p.G30C |
| NDUFB7(NM_004146,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa,137aa) | g.19:14677608G>A,c.250C>T,p.R84W |
| NDUFB7(NM_004146,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa,137aa) | g.19:14677043G>C,c.316C>G,p.R106G |
| NDUFB6(NM_002493,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa,128aa) | g.9:32553882G>A,c.379C>T,p.H127Y |
| NDUFB5(NM_002492,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa,189aa) | g.3:179336257T>C,c.397T>C,p.Y133H |
| NDUFB5(NM_002492,NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa,189aa) | g.3:179322703A>C,c.100A>C,p.T34P |