基因名 突变
GADL1(NM_207359,glutamate decarboxylase-like 1,521aa) g.3:30769819C>T,c.1481G>A,p.R494H
GADD45G(NM_006705,growth arrest and DNA-damage-inducible, gamma,159aa) g.9:92220085G>T,c.49G>T,p.A17S
GADD45GIP1(NM_052850,growth arrest and DNA-damage-inducible, gamma interacting protein 1,222aa) g.19:13067834C>T,c.193G>A,p.G65S
GADD45GIP1(NM_052850,growth arrest and DNA-damage-inducible, gamma interacting protein 1,222aa) g.19:13067792G>C,c.235C>G,p.P79A
GADD45GIP1(NM_052850,growth arrest and DNA-damage-inducible, gamma interacting protein 1,222aa) g.19:13065096T>C,c.595A>G,p.K199E
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26575385G>A,c.1348G>A,p.V450I
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26562617G>T,c.1145G>T,p.S382I
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26562596G>A,c.1124G>A,p.R375Q
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26559629C>T,c.1036C>T,p.P346S
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26518671G>A,c.805G>A,p.A269T
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26513551G>A,c.695G>A,p.G232E
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26513539T>C,c.683T>C,p.I228T
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26513468G>A,c.612G>A,p.M204I
GAD2(NM_000818,glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa),585aa) g.10:26508143C>A,c.458C>A,p.P153Q
GAD1(NM_000817,glutamate decarboxylase 1 (brain, 67kDa),594aa) g.2:171715387G>A,c.1595G>A,p.R532Q
GAD1(NM_000817,glutamate decarboxylase 1 (brain, 67kDa),594aa) g.2:171686104C>T,c.265C>T,p.R89W
GAD1(NM_000817,glutamate decarboxylase 1 (brain, 67kDa),594aa) g.2:171675181C>A,c.80C>A,p.T27K
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97744456G>T,c.193C>A,p.L65I
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97731225G>A,c.493C>T,p.R165C
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97727877G>A,c.536C>T,p.T179M
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97727829G>A,c.584C>T,p.T195I
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97726747T>A,c.615A>T,p.X205Y
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97726724A>G,c.638T>C,p.M213T
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97711722G>A,c.1078C>T,p.R360W
GABRR3(NM_001105580,gamma-aminobutyric acid (GABA) A receptor, rho 3,467aa) g.3:97711701C>T,c.1099G>A,p.G367R
GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) g.6:90024805C>T,c.80G>A,p.R27Q
GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) g.6:89978946G>A,c.296C>T,p.T99I
GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) g.6:89977789A>C,c.539T>G,p.M180R
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