
| 基因名 | 突变 |
|---|---|
| GCM2(NM_004752,glial cells missing homolog 2 (Drosophila),506aa) | g.6:10875142C>T,c.607G>A,p.G203S |
| GCM2(NM_004752,glial cells missing homolog 2 (Drosophila),506aa) | g.6:10874905A>C,c.844T>G,p.Y282D |
| GCM2(NM_004752,glial cells missing homolog 2 (Drosophila),506aa) | g.6:10874806T>C,c.943A>G,p.N315D |
| GCM2(NM_004752,glial cells missing homolog 2 (Drosophila),506aa) | g.6:10874640G>A,c.1109C>T,p.T370M |
| GCM2(NM_004752,glial cells missing homolog 2 (Drosophila),506aa) | g.6:10874451G>A,c.1298C>T,p.P433L |
| GCM1(NM_003643,glial cells missing homolog 1 (Drosophila),436aa) | g.6:52999119C>T,c.79G>A,p.V27M |
| GCM1(NM_003643,glial cells missing homolog 1 (Drosophila),436aa) | g.6:52998951C>T,c.247G>A,p.G83S |
| GCM1(NM_003643,glial cells missing homolog 1 (Drosophila),436aa) | g.6:52998936C>T,c.262G>A,p.A88T |
| GCLC(NM_001498,glutamate-cysteine ligase, catalytic subunit,637aa) | g.6:53385609del,c.413del,p.138fs |
| GCLC(NM_001498,glutamate-cysteine ligase, catalytic subunit,637aa) | g.6:53374027T>C,c.775A>G,p.I259V |
| GCLC(NM_001498,glutamate-cysteine ligase, catalytic subunit,637aa) | g.6:53372323C>T,c.1039G>A,p.D347N |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27745373G>A,c.1619G>A,p.R540Q |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27745372C>T,c.1618C>T,p.R540X |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27741783G>T,c.1551G>T,p.W517C |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27741665G>A,c.1433G>A,p.R478H |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27730940T>C,c.1337T>C,p.L446P |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27730107C>T,c.1072C>T,p.R358X |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27728609C>T,c.775C>T,p.R259W |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27726476C>T,c.740C>T,p.P247L |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27726437A>C,c.701A>C,p.Q234P |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27726415C>T,c.679C>T,p.R227X |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27721631C>T,c.395C>T,p.P132L |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27721143G>A,c.307G>A,p.V103M |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27720442A>G,c.230A>G,p.E77G |
| GCKR(NM_001486,glucokinase (hexokinase 4) regulator,625aa) | g.2:27719797A>G,c.26A>G,p.H9R |
| GCH1(NM_000161,GTP cyclohydrolase 1,250aa) | g.14:55369314G>A,c.68C>T,p.P23L |
| GCH1(NM_000161,GTP cyclohydrolase 1,250aa) | g.14:55312561C>T,c.551G>A,p.R184H |
| GCGR(NM_000160,glucagon receptor,477aa) | g.17:79771513C>T,c.1382C>T,p.A461V |