| 基因名 | 突变 |
|---|---|
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33463878G>A,c.1955G>A,p.R652H |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33463877C>A,c.1954C>A,p.R652S |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33462212G>A,c.1838G>A,p.G613D |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33462211G>T,c.1837G>T,p.G613C |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33461299C>T,c.1549C>T,p.R517C |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33457501T>C,c.1076T>C,p.I359T |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33457462A>G,c.1037A>G,p.K346R |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33456328A>T,c.932A>T,p.H311L |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33455801A>G,c.784A>G,p.M262V |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33455789A>T,c.772A>T,p.T258S |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33455164G>A,c.667G>A,p.E223K |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33453407G>A,c.442G>A,p.D148N |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33448792C>A,c.284C>A,p.A95E |
| TARS(NM_001258438,threonyl-tRNA synthetase,756aa) | g.5:33448739A>C,c.231A>C,p.E77D |
| TARSL2(NM_152334,threonyl-tRNA synthetase-like 2,802aa) | g.15:102264476C>A,c.115G>T,p.A39S |
| TARSL2(NM_152334,threonyl-tRNA synthetase-like 2,802aa) | g.15:102264304G>C,c.287C>G,p.A96G |
| TARSL2(NM_152334,threonyl-tRNA synthetase-like 2,802aa) | g.15:102255146G>A,c.587C>T,p.T196M |
| TARSL2(NM_152334,threonyl-tRNA synthetase-like 2,802aa) | g.15:102252163C>T,c.732G>A,p.M244I |
| TARSL2(NM_152334,threonyl-tRNA synthetase-like 2,802aa) | g.15:102249109C>T,c.817G>A,p.V273M |
| TARSL2(NM_152334,threonyl-tRNA synthetase-like 2,802aa) | g.15:102249036C>T,c.890G>A,p.R297K |
| TARSL2(NM_152334,threonyl-tRNA synthetase-like 2,802aa) | g.15:102241294T>A,c.1315A>T,p.I439L |
| TARS2(NM_025150,threonyl-tRNA synthetase 2, mitochondrial (putative),718aa) | g.1:150477401T>C,c.1840T>C,p.F614L |
| TARS2(NM_025150,threonyl-tRNA synthetase 2, mitochondrial (putative),718aa) | g.1:150471461G>A,c.1490G>A,p.R497Q |
| TARS2(NM_025150,threonyl-tRNA synthetase 2, mitochondrial (putative),718aa) | g.1:150471443G>A,c.1472G>A,p.R491H |
| TARS2(NM_025150,threonyl-tRNA synthetase 2, mitochondrial (putative),718aa) | g.1:150471433T>C,c.1462T>C,p.F488L |
| TARS2(NM_025150,threonyl-tRNA synthetase 2, mitochondrial (putative),718aa) | g.1:150471410G>A,c.1439G>A,p.R480H |
| TARS2(NM_025150,threonyl-tRNA synthetase 2, mitochondrial (putative),718aa) | g.1:150471037T>G,c.1298T>G,p.F433C |
| TARS2(NM_025150,threonyl-tRNA synthetase 2, mitochondrial (putative),718aa) | g.1:150470145C>T,c.1160C>T,p.P387L |