| 基因名 | 突变 |
|---|---|
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49573907C>T,c.784G>A,p.A262T |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49573703C>T,c.988G>A,p.V330I |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49573655G>A,c.1036C>T,p.P346S |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49573483C>T,c.1208G>A,p.R403Q |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49573438A>G,c.1253T>C,p.M418T |
| KCNA7(NM_031886,potassium voltage-gated channel, shaker-related subfamily, member 7,456aa) | g.19:49573363_49573365del,c.1326_1328del,p.442_443del |
| KCNA6(NM_002235,potassium voltage-gated channel, shaker-related subfamily, member 6,529aa) | g.12:4919771A>G,c.564A>G,p.I188M |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5155046G>A,c.1733G>A,p.R578K |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5155040C>T,c.1727C>T,p.A576V |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5154893C>T,c.1580C>T,p.T527M |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5154232C>T,c.919C>T,p.P307S |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5154064G>A,c.751G>A,p.A251T |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5154014G>T,c.701G>T,p.R234L |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5153946G>C,c.633G>C,p.E211D |
| KCNA5(NM_002234,potassium voltage-gated channel, shaker-related subfamily, member 5,613aa) | g.12:5153542C>T,c.229C>T,p.P77S |
| KCNA3(NM_002232,potassium voltage-gated channel, shaker-related subfamily, member 3,575aa) | g.1:111217056G>A,c.376C>T,p.P126S |
| KCNA2(NM_004974,potassium voltage-gated channel, shaker-related subfamily, member 2,499aa) | g.1:111146344C>T,c.1061G>A,p.R354Q |
| KCNA1(NM_000217,potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia),495aa) | g.12:5021535del,c.991del,p.331fs |
| KCNA1(NM_000217,potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia),495aa) | g.12:5021064G>T,c.520G>T,p.V174F |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111061270G>A,c.140C>T,p.S47F |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111061194G>C,c.216C>G,p.D72E |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111061066C>T,c.344G>A,p.R115Q |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060872G>A,c.538C>T,p.R180W |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060857A>G,c.553T>C,p.F185L |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060752C>T,c.658G>A,p.V220M |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060715A>C,c.695T>G,p.I232S |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060649T>C,c.761A>G,p.N254S |
| KCNA10(NM_005549,potassium voltage-gated channel, shaker-related subfamily, member 10,511aa) | g.1:111060617T>A,c.793A>T,p.T265S |