| 基因名 | 突变 |
|---|---|
| URB1(NM_014825,URB1 ribosome biogenesis 1 homolog (S. cerevisiae),2271aa) | g.21:33688978C>T,c.6433G>A,p.V2145M |
| URAD(NM_001105577,ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase,173aa) | g.13:28562605T>G,c.170A>C,p.Q57P |
| URAD(NM_001105577,ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase,173aa) | g.13:28552425G>T,c.340C>A,p.R114S |
| UQCRH(NM_006004,ubiquinol-cytochrome c reductase hinge protein,91aa) | g.1:46775975C>A,c.230C>A,p.A77E |
| UQCRH(NM_006004,ubiquinol-cytochrome c reductase hinge protein,91aa) | g.1:46774783A>G,c.65A>G,p.E22G |
| UQCRFS1(NM_006003,ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1,274aa) | g.19:29704010A>C,c.16T>G,p.S6A |
| UQCRFS1(NM_006003,ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1,274aa) | g.19:29698816T>G,c.464A>C,p.K155T |
| UQCRC2(NM_003366,ubiquinol-cytochrome c reductase core protein II,453aa) | g.16:21991888A>G,c.1145A>G,p.Y382C |
| UQCRC2(NM_003366,ubiquinol-cytochrome c reductase core protein II,453aa) | g.16:21982936G>A,c.761G>A,p.R254H |
| UQCRC2(NM_003366,ubiquinol-cytochrome c reductase core protein II,453aa) | g.16:21976762G>A,c.548G>A,p.R183Q |
| UQCRC2(NM_003366,ubiquinol-cytochrome c reductase core protein II,453aa) | g.16:21973836G>A,c.388G>A,p.V130I |
| UQCRC2(NM_003366,ubiquinol-cytochrome c reductase core protein II,453aa) | g.16:21973828G>A,c.380G>A,p.R127Q |
| UQCRC2(NM_003366,ubiquinol-cytochrome c reductase core protein II,453aa) | g.16:21968871G>A,c.251G>A,p.R84H |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48646720T>C,c.85A>G,p.T29A |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48641060C>G,c.643G>C,p.D215H |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48638871C>T,c.736G>A,p.A246T |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48638807G>C,c.800C>G,p.P267R |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48638801C>T,c.806G>A,p.R269H |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48638472T>C,c.902A>G,p.N301S |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48638451T>C,c.923A>G,p.N308S |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48638440C>T,c.934G>A,p.G312S |
| UQCRC1(NM_003365,ubiquinol-cytochrome c reductase core protein I,480aa) | g.3:48637071A>T,c.1375T>A,p.Y459N |
| UQCRB(NM_001254752,ubiquinol-cytochrome c reductase binding protein,140aa) | g.8:97247742G>A,c.17C>T,p.A6V |
| UQCRB(NM_001254752,ubiquinol-cytochrome c reductase binding protein,140aa) | g.8:97244060A>T,c.200T>A,p.L67Q |
| UQCRB(NM_001254752,ubiquinol-cytochrome c reductase binding protein,140aa) | g.8:97243634G>A,c.368C>T,p.P123L |
| UQCR11(NM_006830,ubiquinol-cytochrome c reductase, complex III subunit XI,56aa) | g.19:1599448C>A,c.162G>T,p.K54N |
| UQCR10(NM_001003684,ubiquinol-cytochrome c reductase, complex III subunit X,62aa) | g.22:30163526A>G,c.139A>G,p.I47V |
| UQCC(NM_018244,ubiquinol-cytochrome c reductase complex chaperone,299aa) | g.20:33981921C>T,c.103G>A,p.D35N |