| 基因名 | 突变 |
|---|---|
| NDUFA7(NM_005001,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa,113aa) | g.19:8385754C>T,c.88G>A,p.E30K |
| NDUFA7(NM_005001,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa,113aa) | g.19:8381489T>G,c.142A>C,p.K48Q |
| NDUFA7(NM_005001,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa,113aa) | g.19:8381435G>C,c.196C>G,p.P66A |
| NDUFA6(NM_002490,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa,154aa) | g.22:42486789G>A,c.38C>T,p.A13V |
| NDUFA6(NM_002490,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa,154aa) | g.22:42486723G>A,c.104C>T,p.A35V |
| NDUFA6(NM_002490,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa,154aa) | g.22:42482213T>C,c.439A>G,p.K147E |
| NDUFA5(NM_001282420,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5,116aa) | g.7:123197691G>C,c.9C>G,p.Y3X |
| NDUFA4L2(NM_020142,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2,87aa) | g.12:57630844G>A,c.25C>T,p.R9C |
| NDUFA4L2(NM_020142,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2,87aa) | g.12:57630835G>A,c.34C>T,p.R12W |
| NDUFA4L2(NM_020142,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2,87aa) | g.12:57630454A>G,c.68T>C,p.M23T |
| NDUFA3(NM_004542,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa,84aa) | g.19:54606472G>C,c.61G>C,p.V21L |
| NDUFA2(NM_001185012,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa,76aa) | g.5:140027138C>G,c.31G>C,p.G11R |
| NDUFA2(NM_001185012,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa,76aa) | g.5:140027129G>C,c.40C>G,p.L14V |
| NDUFA2(NM_001185012,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa,76aa) | g.5:140026858T>C,c.191A>G,p.K64R |
| NDUFA1(NM_004541,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa,70aa) | g.X:119005968G>C,c.94G>C,p.G32R |
| NDUFA13(NM_015965,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13,144aa) | g.19:19638852del,c.352del,p.118fs |
| NDUFA13(NM_015965,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13,144aa) | g.19:19638526C>T,c.262C>T,p.R88W |
| NDUFA13(NM_015965,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13,144aa) | g.19:19637021C>A,c.125C>A,p.T42N |
| NDUFA12(NM_018838,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12,145aa) | g.12:95387988T>C,c.215A>G,p.N72S |
| NDUFA11(NM_001193375,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa,228aa) | g.19:5893058G>A,c.557C>T,p.A186V |
| NDUFA11(NM_001193375,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa,228aa) | g.19:5893056G>A,c.559C>T,p.R187W |
| NDUFA11(NM_001193375,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa,228aa) | g.19:5893029C>T,c.586G>A,p.G196R |
| NDUFA11(NM_001193375,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa,228aa) | g.19:5892954T>C,c.661A>G,p.T221A |
| NDUFA10(NM_004544,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa,355aa) | g.2:240964714G>C,c.5C>G,p.A2G |
| NDUFA10(NM_004544,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa,355aa) | g.2:240960670A>G,c.404T>C,p.L135S |
| NDUFA10(NM_004544,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa,355aa) | g.2:240958018A>C,c.499T>G,p.F167V |
| NDUFA10(NM_004544,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa,355aa) | g.2:240954203C>T,c.622G>A,p.D208N |
| NDUFA10(NM_004544,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa,355aa) | g.2:240951071C>T,c.712G>A,p.E238K |