| 基因名 | 突变 |
|---|---|
| KCNC3(NM_004977,potassium voltage-gated channel, Shaw-related subfamily, member 3,757aa) | g.19:50832152T>C,c.188A>G,p.D63G |
| KCNC3(NM_004977,potassium voltage-gated channel, Shaw-related subfamily, member 3,757aa) | g.19:50831649C>T,c.691G>A,p.G231S |
| KCNC3(NM_004977,potassium voltage-gated channel, Shaw-related subfamily, member 3,757aa) | g.19:50827192C>T,c.1018G>A,p.V340M |
| KCNC3(NM_004977,potassium voltage-gated channel, Shaw-related subfamily, member 3,757aa) | g.19:50826334C>G,c.1876G>C,p.G626R |
| KCNC2(NM_001260497,potassium voltage-gated channel, Shaw-related subfamily, member 2,618aa) | g.12:75601540C>A,c.224G>T,p.G75V |
| KCNC2(NM_001260497,potassium voltage-gated channel, Shaw-related subfamily, member 2,618aa) | g.12:75444287C>G,c.1498G>C,p.A500P |
| KCNC2(NM_001260497,potassium voltage-gated channel, Shaw-related subfamily, member 2,618aa) | g.12:75444260del,c.1525del,p.509fs |
| KCNC1(NM_004976,potassium voltage-gated channel, Shaw-related subfamily, member 1,511aa) | g.11:17793350C>T,c.709C>T,p.R237W |
| KCNC1(NM_004976,potassium voltage-gated channel, Shaw-related subfamily, member 1,511aa) | g.11:17793324G>T,c.683G>T,p.R228L |
| KCNB2(NM_004770,potassium voltage-gated channel, Shab-related subfamily, member 2,911aa) | g.8:73849653A>G,c.2063A>G,p.H688R |
| KCNB2(NM_004770,potassium voltage-gated channel, Shab-related subfamily, member 2,911aa) | g.8:73849560A>G,c.1970A>G,p.E657G |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47990709A>G,c.1388T>C,p.I463T |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47990521C>T,c.1576G>A,p.V526I |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47990448G>A,c.1649C>T,p.S550L |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47990260G>A,c.1837C>T,p.P613S |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47990250G>C,c.1847C>G,p.T616S |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47990214C>T,c.1883G>A,p.G628E |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47989734G>T,c.2363C>A,p.T788K |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47989624G>A,c.2473C>T,p.P825S |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47989556_47989557insC,c.2540_2541insG,p.847fs |
| KCNB1(NM_004975,potassium voltage-gated channel, Shab-related subfamily, member 1,858aa) | g.20:47989527C>T,c.2570G>A,p.S857N |
| KCNAB3(NM_004732,potassium voltage-gated channel, shaker-related subfamily, beta member 3,404aa) | g.17:7830995C>A,c.304G>T,p.G102C |
| KCNAB2(NM_001199860,potassium voltage-gated channel, shaker-related subfamily, beta member 2,367aa) | g.1:6158569A>G,c.1039A>G,p.I347V |
| KCNAB1(NM_172159,potassium voltage-gated channel, shaker-related subfamily, beta member 1,401aa) | g.3:156234135T>G,c.888T>G,p.S296R |
| KCNAB1(NM_172159,potassium voltage-gated channel, shaker-related subfamily, beta member 1,401aa) | g.3:156192555G>A,c.550G>A,p.E184K |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49575304G>A,c.539C>T,p.A180V |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49574132G>A,c.559C>T,p.P187S |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49574125G>C,c.566C>G,p.P189R |