| 基因名 | 突变 |
|---|---|
| RASA1(NM_002890,RAS p21 protein activator (GTPase activating protein) 1,1047aa) | g.5:86564492G>C,c.224G>C,p.G75A |
| RASA1(NM_002890,RAS p21 protein activator (GTPase activating protein) 1,1047aa) | g.5:86564477A>G,c.209A>G,p.E70G |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167944831G>A,c.1637G>A,p.R546H |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167943862A>G,c.1532A>G,p.N511S |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167943852C>A,c.1522C>A,p.L508I |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167937606C>T,c.1367C>T,p.S456L |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167933158T>A,c.1190T>A,p.F397Y |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167933095T>A,c.1127T>A,p.V376E |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167929035G>A,c.982G>A,p.V328I |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167924324C>T,c.793C>T,p.P265S |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167919755C>T,c.272C>T,p.A91V |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167915643C>T,c.82C>T,p.R28W |
| RARS(NM_002887,arginyl-tRNA synthetase,660aa) | g.5:167913510G>A,c.7G>A,p.V3I |
| RARS2(NM_020320,arginyl-tRNA synthetase 2, mitochondrial,578aa) | g.6:88279251G>A,c.94C>T,p.P32S |
| RARS2(NM_020320,arginyl-tRNA synthetase 2, mitochondrial,578aa) | g.6:88240576C>T,c.697G>A,p.G233S |
| RARS2(NM_020320,arginyl-tRNA synthetase 2, mitochondrial,578aa) | g.6:88240570C>T,c.703G>A,p.V235M |
| RARS2(NM_020320,arginyl-tRNA synthetase 2, mitochondrial,578aa) | g.6:88240519A>T,c.754T>A,p.Y252N |
| RARS2(NM_020320,arginyl-tRNA synthetase 2, mitochondrial,578aa) | g.6:88239266T>C,c.872A>G,p.K291R |
| RARS2(NM_020320,arginyl-tRNA synthetase 2, mitochondrial,578aa) | g.6:88231226T>C,c.991A>G,p.I331V |
| RARS2(NM_020320,arginyl-tRNA synthetase 2, mitochondrial,578aa) | g.6:88226546C>T,c.1564G>A,p.V522I |
| RARRES3(NM_004585,retinoic acid receptor responder (tazarotene induced) 3,164aa) | g.11:63313708C>A,c.475C>A,p.Q159K |
| RARRES3(NM_004585,retinoic acid receptor responder (tazarotene induced) 3,164aa) | g.11:63312350C>T,c.376C>T,p.R126C |
| RARRES3(NM_004585,retinoic acid receptor responder (tazarotene induced) 3,164aa) | g.11:63312228del,c.254del,p.85fs |
| RARRES3(NM_004585,retinoic acid receptor responder (tazarotene induced) 3,164aa) | g.11:63312198G>A,c.224G>A,p.R75Q |
| RARRES3(NM_004585,retinoic acid receptor responder (tazarotene induced) 3,164aa) | g.11:63312164C>T,c.190C>T,p.R64C |
| RARRES3(NM_004585,retinoic acid receptor responder (tazarotene induced) 3,164aa) | g.11:63307031G>A,c.53G>A,p.R18H |
| RARRES2(NM_002889,retinoic acid receptor responder (tazarotene induced) 2,163aa) | g.7:150037566A>T,c.133T>A,p.W45R |
| RARRES2(NM_002889,retinoic acid receptor responder (tazarotene induced) 2,163aa) | g.7:150037550G>T,c.149C>A,p.T50N |