| 基因名 | 突变 |
|---|---|
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34073092C>T,c.1424G>A,p.R475Q |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34073033T>C,c.1483A>G,p.T495A |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072958G>A,c.1558C>T,p.P520S |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072898C>T,c.1618G>A,p.A540T |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072813A>T,c.1703T>A,p.V568D |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072555G>A,c.1961C>T,p.A654V |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072529G>A,c.1987C>T,p.P663S |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072528G>A,c.1988C>T,p.P663L |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072519A>G,c.1997T>C,p.L666P |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072264G>T,c.2252C>A,p.A751D |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072174C>T,c.2342G>A,p.R781Q |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072153G>A,c.2363C>T,p.P788L |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072031G>A,c.2485C>T,p.R829W |
| GAS2L2(NM_139285,growth arrest-specific 2 like 2,880aa) | g.17:34072030C>T,c.2486G>A,p.R829Q |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34911575G>A,c.47C>T,p.T16M |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34906937C>T,c.364G>A,p.A122T |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34903861C>A,c.531G>T,p.E177D |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34900512C>A,c.1027G>T,p.G343C |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34897281G>C,c.1093C>G,p.L365V |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34897113C>T,c.1261G>A,p.V421I |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34889888A>G,c.1730T>C,p.M577T |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34889697G>C,c.1921C>G,p.P641A |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34889691G>A,c.1927C>T,p.P643S |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34889433G>A,c.1970C>T,p.T657M |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34883618T>C,c.2255A>G,p.D752G |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34882197A>G,c.2345T>C,p.I782T |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34876544C>T,c.2920G>A,p.E974K |
| GART(NM_001136005,phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase,1010aa) | g.21:34876538C>T,c.2926G>A,p.V976I |