| 基因名 | 突变 |
|---|---|
| GLT1D1(NM_144669,glycosyltransferase 1 domain containing 1,266aa) | g.12:129431887G>A,c.424G>A,p.A142T |
| GLT1D1(NM_144669,glycosyltransferase 1 domain containing 1,266aa) | g.12:129373247C>T,c.281C>T,p.A94V |
| GLT1D1(NM_144669,glycosyltransferase 1 domain containing 1,266aa) | g.12:129360559G>A,c.169G>A,p.E57K |
| GLT1D1(NM_144669,glycosyltransferase 1 domain containing 1,266aa) | g.12:129360520C>T,c.130C>T,p.R44X |
| GLT1D1(NM_144669,glycosyltransferase 1 domain containing 1,266aa) | g.12:129360484G>A,c.94G>A,p.V32M |
| GLS(NM_014905,glutaminase,669aa) | g.2:191746076A>C,c.266A>C,p.H89P |
| GLS2(NM_001280796,glutaminase 2 (liver, mitochondrial),326aa) | g.12:56865395T>A,c.857A>T,p.Q286L |
| GLS2(NM_001280796,glutaminase 2 (liver, mitochondrial),326aa) | g.12:56865338A>G,c.914T>C,p.L305P |
| GLRX(NM_002064,glutaredoxin (thioltransferase),106aa) | g.5:95152248G>A,c.290C>T,p.T97M |
| GLRX5(NM_016417,glutaredoxin 5,157aa) | g.14:96010424G>A,c.436G>A,p.A146T |
| GLRX5(NM_016417,glutaredoxin 5,157aa) | g.14:96010345_96010346insG,c.357_358insG,p.119fs |
| GLRX5(NM_016417,glutaredoxin 5,157aa) | g.14:96010332A>G,c.344A>G,p.N115S |
| GLRX3(NM_001199868,glutaredoxin 3,335aa) | g.10:131959150C>T,c.367C>T,p.P123S |
| GLRX3(NM_001199868,glutaredoxin 3,335aa) | g.10:131958281A>G,c.224A>G,p.E75G |
| GLRX3(NM_001199868,glutaredoxin 3,335aa) | g.10:131943533G>A,c.151G>A,p.E51K |
| GLRX3(NM_001199868,glutaredoxin 3,335aa) | g.10:131934763C>T,c.79C>T,p.R27C |
| GLRX3(NM_001199868,glutaredoxin 3,335aa) | g.10:131934747G>C,c.63G>C,p.Q21H |
| GLRX2(NM_016066,glutaredoxin 2,165aa) | g.1:193074686C>T,c.83G>A,p.R28H |
| GLRX2(NM_016066,glutaredoxin 2,165aa) | g.1:193074651T>A,c.118A>T,p.R40W |
| GLRX2(NM_016066,glutaredoxin 2,165aa) | g.1:193070320G>A,c.137C>T,p.T46I |
| GLRB(NM_000824,glycine receptor, beta,497aa) | g.4:158091771C>G,c.1385C>G,p.A462G |
| GLRB(NM_000824,glycine receptor, beta,497aa) | g.4:158074037del,c.1072del,p.358fs |
| GLRB(NM_000824,glycine receptor, beta,497aa) | g.4:158060038C>T,c.688C>T,p.Q230X |
| GLRB(NM_000824,glycine receptor, beta,497aa) | g.4:158057778A>G,c.455A>G,p.N152S |
| GLRA4(NM_001172285,glycine receptor, alpha 4,342aa) | g.X:102979486T>C,c.253A>G,p.I85V |
| GLRA4(NM_001172285,glycine receptor, alpha 4,342aa) | g.X:102979187G>A,c.313C>T,p.P105S |
| GLRA4(NM_001172285,glycine receptor, alpha 4,342aa) | g.X:102977125G>A,c.673C>T,p.R225W |
| GLRA4(NM_001172285,glycine receptor, alpha 4,342aa) | g.X:102974161G>A,c.757C>T,p.R253W |