| 基因名 | 突变 |
|---|---|
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41282938T>G,c.316T>G,p.F106V |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133182600C>T,c.1216G>A,p.V406I |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133175736T>C,c.1241A>G,p.E414G |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133153438T>C,c.1403A>G,p.N468S |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133153412G>A,c.1429C>T,p.R477C |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133153411C>A,c.1430G>T,p.R477L |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133146616G>A,c.1720C>T,p.P574S |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133142000A>G,c.2128T>C,p.Y710H |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133141833G>T,c.2295C>A,p.D765E |
| KCNQ3(NM_004519,potassium voltage-gated channel, KQT-like subfamily, member 3,872aa) | g.8:133141514T>C,c.2614A>G,p.I872V |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62103612_62103613insG,c.204_205insC,p.68fs |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62051020C>A,c.1253G>T,p.G418V |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62050979G>A,c.1294C>T,p.R432C |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62046433C>T,c.1348G>A,p.V450M |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62045527C>G,c.1545G>C,p.E515D |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62044825G>A,c.1741C>T,p.R581X |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62038551T>G,c.2065A>C,p.I689L |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62038548C>T,c.2068G>A,p.V690M |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62038352T>C,c.2264A>G,p.Y755C |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62038277T>G,c.2339A>C,p.N780T |
| KCNQ2(NM_172107,potassium voltage-gated channel, KQT-like subfamily, member 2,872aa) | g.20:62038056G>A,c.2560C>T,p.R854C |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2869144G>A,c.1942G>A,p.V648I |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2869129G>A,c.1927G>A,p.G643S |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2869033G>A,c.1831G>A,p.D611N |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2869001C>T,c.1799C>T,p.T600M |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2797215G>A,c.1616G>A,p.R539Q |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2797196C>T,c.1597C>T,p.R533W |
| KCNQ1(NM_000218,potassium voltage-gated channel, KQT-like subfamily, member 1,676aa) | g.11:2610034C>G,c.1343C>G,p.P448R |