| 基因名 | 突变 |
|---|---|
| GABRD(NM_000815,gamma-aminobutyric acid (GABA) A receptor, delta,452aa) | g.1:1959698C>T,c.658C>T,p.R220C |
| GABRD(NM_000815,gamma-aminobutyric acid (GABA) A receptor, delta,452aa) | g.1:1956400G>A,c.88G>A,p.D30N |
| GABRB3(NM_001278631,gamma-aminobutyric acid (GABA) A receptor, beta 3,388aa) | g.15:26793158A>G,c.949T>C,p.Y317H |
| GABRB3(NM_001278631,gamma-aminobutyric acid (GABA) A receptor, beta 3,388aa) | g.15:26793097G>A,c.1010C>T,p.P337L |
| GABRB2(NM_021911,gamma-aminobutyric acid (GABA) A receptor, beta 2,512aa) | g.5:160973640C>T,c.10G>A,p.V4M |
| GABRB2(NM_021911,gamma-aminobutyric acid (GABA) A receptor, beta 2,512aa) | g.5:160757907G>A,c.1060C>T,p.R354C |
| GABRB1(NM_000812,gamma-aminobutyric acid (GABA) A receptor, beta 1,474aa) | g.4:47427873C>G,c.1263C>G,p.H421Q |
| GABRB1(NM_000812,gamma-aminobutyric acid (GABA) A receptor, beta 1,474aa) | g.4:47427869G>C,c.1259G>C,p.R420P |
| GABRB1(NM_000812,gamma-aminobutyric acid (GABA) A receptor, beta 1,474aa) | g.4:47408896G>A,c.1033G>A,p.D345N |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161128669G>C,c.1252G>C,p.D418H |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161128627C>T,c.1210C>T,p.P404S |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161117338G>A,c.805G>A,p.V269I |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161117243A>G,c.710A>G,p.Q237R |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161116672C>T,c.560C>T,p.T187M |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161116067C>T,c.338C>T,p.T113M |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161113333C>T,c.136C>T,p.R46W |
| GABRA6(NM_000811,gamma-aminobutyric acid (GABA) A receptor, alpha 6,453aa) | g.5:161113291G>A,c.94G>A,p.V32I |
| GABRA5(NM_000810,gamma-aminobutyric acid (GABA) A receptor, alpha 5,462aa) | g.15:27193303G>A,c.1312G>A,p.G438S |
| GABRA5(NM_000810,gamma-aminobutyric acid (GABA) A receptor, alpha 5,462aa) | g.15:27182361G>A,c.610G>A,p.V204I |
| GABRA4(NM_000809,gamma-aminobutyric acid (GABA) A receptor, alpha 4,554aa) | g.4:46995366G>T,c.76C>A,p.L26M |
| GABRA4(NM_000809,gamma-aminobutyric acid (GABA) A receptor, alpha 4,554aa) | g.4:46967070C>T,c.1051G>A,p.A351T |
| GABRA4(NM_000809,gamma-aminobutyric acid (GABA) A receptor, alpha 4,554aa) | g.4:46930510C>T,c.1397G>A,p.R466Q |
| GABRA3(NM_000808,gamma-aminobutyric acid (GABA) A receptor, alpha 3,492aa) | g.X:151358215G>A,c.1130C>T,p.A377V |
| GABRA2(NM_001114175,gamma-aminobutyric acid (GABA) A receptor, alpha 2,451aa) | g.4:46252603C>T,c.1078G>A,p.V360I |
| GABRA1(NM_001127644,gamma-aminobutyric acid (GABA) A receptor, alpha 1,456aa) | g.5:161324136C>A,c.1079C>A,p.P360H |
| GABRA1(NM_001127644,gamma-aminobutyric acid (GABA) A receptor, alpha 1,456aa) | g.5:161281175C>T,c.86C>T,p.P29L |
| GABPB2(NM_144618,GA binding protein transcription factor, beta subunit 2,448aa) | g.1:151090565C>T,c.1180C>T,p.R394X |
| GABPB2(NM_144618,GA binding protein transcription factor, beta subunit 2,448aa) | g.1:151089888A>C,c.943A>C,p.K315Q |