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
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org