| 基因名 | 突变 |
|---|---|
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170215665A>G,c.46A>G,p.T16A |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170215647G>A,c.28G>A,p.V10M |
| GABRG3(NM_033223,gamma-aminobutyric acid (GABA) A receptor, gamma 3,467aa) | g.15:27773109C>T,c.1093C>T,p.P365S |
| GABRG3(NM_033223,gamma-aminobutyric acid (GABA) A receptor, gamma 3,467aa) | g.15:27772767A>G,c.1054A>G,p.T352A |
| GABRG3(NM_033223,gamma-aminobutyric acid (GABA) A receptor, gamma 3,467aa) | g.15:27725918G>A,c.697G>A,p.V233M |
| GABRG3(NM_033223,gamma-aminobutyric acid (GABA) A receptor, gamma 3,467aa) | g.15:27271912G>A,c.214G>A,p.V72I |
| GABRG3(NM_033223,gamma-aminobutyric acid (GABA) A receptor, gamma 3,467aa) | g.15:27222234G>A,c.139G>A,p.V47M |
| GABRG2(NM_198903,gamma-aminobutyric acid (GABA) A receptor, gamma 2,515aa) | g.5:161529631G>T,c.703G>T,p.G235C |
| GABRG2(NM_198903,gamma-aminobutyric acid (GABA) A receptor, gamma 2,515aa) | g.5:161529571A>G,c.643A>G,p.I215V |
| GABRG2(NM_198903,gamma-aminobutyric acid (GABA) A receptor, gamma 2,515aa) | g.5:161528280C>T,c.588C>T,p.N196N |
| GABRG2(NM_198903,gamma-aminobutyric acid (GABA) A receptor, gamma 2,515aa) | g.5:161495057G>C,c.52G>C,p.V18L |
| GABRG2(NM_198903,gamma-aminobutyric acid (GABA) A receptor, gamma 2,515aa) | g.5:161495029C>A,c.24C>A,p.S8R |
| GABRG1(NM_173536,gamma-aminobutyric acid (GABA) A receptor, gamma 1,465aa) | g.4:46060571A>G,c.694T>C,p.Y232H |
| GABRG1(NM_173536,gamma-aminobutyric acid (GABA) A receptor, gamma 1,465aa) | g.4:46043232T>C,c.1171A>G,p.M391V |
| GABRG1(NM_173536,gamma-aminobutyric acid (GABA) A receptor, gamma 1,465aa) | g.4:46043162C>T,c.1241G>A,p.S414N |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151138818T>C,c.113A>G,p.Y38C |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151138777C>T,c.154G>A,p.E52K |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151138671C>T,c.260G>A,p.R87H |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151138179A>C,c.304T>G,p.S102A |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151131000G>A,c.458C>T,p.P153L |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151129775C>A,c.626G>T,p.C209F |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151123389C>G,c.1305G>C,p.E435D |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151123384G>A,c.1310C>T,p.P437L |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151123382G>A,c.1312C>T,p.R438C |
| GABRE(NM_004961,gamma-aminobutyric acid (GABA) A receptor, epsilon,506aa) | g.X:151123279C>T,c.1415G>A,p.R472H |
| GABRD(NM_000815,gamma-aminobutyric acid (GABA) A receptor, delta,452aa) | g.1:1961581G>A,c.1219G>A,p.A407T |
| GABRD(NM_000815,gamma-aminobutyric acid (GABA) A receptor, delta,452aa) | g.1:1959708C>T,c.668C>T,p.T223M |
| GABRD(NM_000815,gamma-aminobutyric acid (GABA) A receptor, delta,452aa) | g.1:1959699G>A,c.659G>A,p.R220H |