| 基因名 | 突变 |
|---|---|
| GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) | g.6:89974321G>A,c.896C>T,p.T299M |
| GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) | g.6:89974304T>A,c.913A>T,p.T305S |
| GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) | g.6:89974162T>C,c.1055A>G,p.Q352R |
| GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) | g.6:89967498G>A,c.1289C>T,p.T430M |
| GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) | g.6:89967489C>T,c.1298G>A,p.R433H |
| GABRR2(NM_002043,gamma-aminobutyric acid (GABA) A receptor, rho 2,465aa) | g.6:89967417T>C,c.1370A>G,p.N457S |
| GABRR1(NM_001256704,gamma-aminobutyric acid (GABA) A receptor, rho 1,392aa) | g.6:89913209C>T,c.-142-2G>A,p.5'UTRAcceptor |
| GABRR1(NM_001256704,gamma-aminobutyric acid (GABA) A receptor, rho 1,392aa) | g.6:89907883A>G,c.167T>C,p.M56T |
| GABRR1(NM_001256704,gamma-aminobutyric acid (GABA) A receptor, rho 1,392aa) | g.6:89890147C>T,c.749G>A,p.R250H |
| GABRR1(NM_001256704,gamma-aminobutyric acid (GABA) A receptor, rho 1,392aa) | g.6:89888752G>A,c.916C>T,p.R306C |
| GABRR1(NM_001256704,gamma-aminobutyric acid (GABA) A receptor, rho 1,392aa) | g.6:89888668C>T,c.1000G>A,p.D334N |
| GABRQ(NM_018558,gamma-aminobutyric acid (GABA) A receptor, theta,632aa) | g.X:151821277T>A,c.1432T>A,p.F478I |
| GABRQ(NM_018558,gamma-aminobutyric acid (GABA) A receptor, theta,632aa) | g.X:151821275del,c.1430del,p.477fs |
| GABRQ(NM_018558,gamma-aminobutyric acid (GABA) A receptor, theta,632aa) | g.X:151821275_151821277del,c.1430_1432del,p.477_478del |
| GABRQ(NM_018558,gamma-aminobutyric acid (GABA) A receptor, theta,632aa) | g.X:151821166C>A,c.1321C>A,p.Q441K |
| GABRQ(NM_018558,gamma-aminobutyric acid (GABA) A receptor, theta,632aa) | g.X:151820189C>T,c.1102C>T,p.P368S |
| GABRQ(NM_018558,gamma-aminobutyric acid (GABA) A receptor, theta,632aa) | g.X:151815487_151815488insC,c.385_386insC,p.129fs |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170239112C>A,c.1173C>A,p.F391L |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170239063G>A,c.1124G>A,p.S375N |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170238985T>C,c.1046T>C,p.V349A |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170236616C>T,c.877C>T,p.R293C |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170235729G>A,c.805G>A,p.D269N |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170235639C>T,c.715C>T,p.R239W |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170222392C>T,c.421C>T,p.R141C |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170222299C>T,c.328C>T,p.R110C |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170221295G>C,c.233G>C,p.S78T |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170216243A>G,c.164A>G,p.N55S |
| GABRP(NM_014211,gamma-aminobutyric acid (GABA) A receptor, pi,440aa) | g.5:170216170G>A,c.91G>A,p.G31S |