| Genename | Variants |
|---|---|
| AASDH(NM_181806,aminoadipate-semialdehyde dehydrogenase,1098aa) | g.4:57215677G>A,c.2240C>T,p.A747V |
| AASDH(NM_181806,aminoadipate-semialdehyde dehydrogenase,1098aa) | g.4:57215597C>T,c.2320G>A,p.V774I |
| AASDH(NM_181806,aminoadipate-semialdehyde dehydrogenase,1098aa) | g.4:57211352T>C,c.2593A>G,p.T865A |
| AASDH(NM_181806,aminoadipate-semialdehyde dehydrogenase,1098aa) | g.4:57209116A>G,c.2792T>C,p.I931T |
| AASDH(NM_181806,aminoadipate-semialdehyde dehydrogenase,1098aa) | g.4:57204777A>C,c.3088T>G,p.Y1030D |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70310450C>T,c.418G>A,p.G140R |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70304215G>A,c.700C>T,p.P234S |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70303659C>T,c.824G>A,p.G275D |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70303580G>A,c.903C>T,p.H301H |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70295047G>A,c.1685C>T,p.T562I |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70292029C>T,c.2084G>A,p.R695Q |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70292024C>T,c.2089G>A,p.V697I |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70289732G>A,c.2185C>T,p.R729W |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70289642C>T,c.2275G>A,p.E759K |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70286740C>T,c.2791G>A,p.G931S |
| AARS(NM_001605,alanyl-tRNA synthetase,968aa) | g.16:70286631T>A,c.2900A>T,p.K967M |
| AARSD1(NM_001261434,alanyl-tRNA synthetase domain containing 1,412aa) | g.17:41113365C>G,c.175G>C,p.D59H |
| AARSD1(NM_001261434,alanyl-tRNA synthetase domain containing 1,412aa) | g.17:41113359G>A,c.181C>T,p.R61C |
| AARSD1(NM_001261434,alanyl-tRNA synthetase domain containing 1,412aa) | g.17:41108534_41108535insG,c.432_433insC,p.144fs |
| AARSD1(NM_001261434,alanyl-tRNA synthetase domain containing 1,412aa) | g.17:41107920G>A,c.733C>T,p.R245W |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44278169C>G,c.761G>C,p.G254A |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44278145C>T,c.785G>A,p.R262Q |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44278069G>T,c.861C>A,p.D287E |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44275011T>C,c.1015A>G,p.I339V |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44274121T>C,c.1196A>G,p.N399S |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44273412C>T,c.1412G>A,p.R471Q |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44272851C>G,c.1519G>C,p.V507L |
| AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) | g.6:44272836C>G,c.1534G>C,p.D512H |