| 基因名 | 突变 |
|---|---|
| IBA57(NM_001010867,IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae),356aa) | g.1:228363090A>C,c.947A>C,p.N316T |
| IBA57(NM_001010867,IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae),356aa) | g.1:228363073C>G,c.930C>G,p.F310L |
| IBA57(NM_001010867,IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae),356aa) | g.1:228362682G>A,c.631G>A,p.G211S |
| IBA57(NM_001010867,IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae),356aa) | g.1:228353651G>C,c.134G>C,p.G45A |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95048890C>T,c.407G>A,p.S136N |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95027775G>C,c.1492C>G,p.L498V |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95027380G>A,c.1531C>T,p.R511C |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95019048G>A,c.2051C>T,p.T684M |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95013035C>T,c.2389G>A,p.D797N |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95009826T>C,c.2624A>G,p.N875S |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95009778C>T,c.2672G>A,p.R891Q |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95009739C>T,c.2711G>A,p.R904H |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95009731C>T,c.2719G>A,p.G907R |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95005523T>C,c.2975A>G,p.N992S |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:95004477C>T,c.3136G>A,p.V1046I |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:94985708G>A,c.3473C>T,p.S1158L |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:94985637T>C,c.3544A>G,p.K1182E |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:94984945A>G,c.3563T>C,p.M1188T |
| IARS(NM_013417,isoleucyl-tRNA synthetase,1262aa) | g.9:94973151C>T,c.3727G>A,p.V1243M |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220316386C>G,c.2661C>G,p.D887E |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220316304G>A,c.2579G>A,p.R860H |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220316300T>C,c.2575T>C,p.F859L |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220313577G>A,c.2360G>A,p.R787Q |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220311338G>A,c.2128G>A,p.A710T |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220311332G>A,c.2122G>A,p.E708K |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220298664A>G,c.1726A>G,p.K576E |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220279329C>T,c.1163C>T,p.T388M |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220279317T>C,c.1151T>C,p.M384T |