| 基因名 | 突变 |
|---|---|
| KCNE1(NM_000219,potassium voltage-gated channel, Isk-related family, member 1,129aa) | g.21:35821821T>C,c.112A>G,p.S38G |
| KCNE1(NM_000219,potassium voltage-gated channel, Isk-related family, member 1,129aa) | g.21:35821707C>T,c.226G>A,p.D76N |
| KCNE1(NM_000219,potassium voltage-gated channel, Isk-related family, member 1,129aa) | g.21:35821680C>T,c.253G>A,p.D85N |
| KCNE1L(NM_012282,KCNE1-like,142aa) | g.X:108868153G>A,c.97C>T,p.P33S |
| KCNE1L(NM_012282,KCNE1-like,142aa) | g.X:108868150G>A,c.100C>T,p.R34C |
| KCNE1L(NM_012282,KCNE1-like,142aa) | g.X:108868009A>G,c.241T>C,p.Y81H |
| KCNE1L(NM_012282,KCNE1-like,142aa) | g.X:108867961C>T,c.289G>A,p.A97T |
| KCND3(NM_004980,potassium voltage-gated channel, Shal-related subfamily, member 3,655aa) | g.1:112525344G>T,c.5C>A,p.A2E |
| KCND3(NM_004980,potassium voltage-gated channel, Shal-related subfamily, member 3,655aa) | g.1:112323313G>A,c.1370C>T,p.T457M |
| KCND2(NM_012281,potassium voltage-gated channel, Shal-related subfamily, member 2,630aa) | g.7:119915432C>T,c.746C>T,p.A249V |
| KCND1(NM_004979,potassium voltage-gated channel, Shal-related subfamily, member 1,647aa) | g.X:48823056G>C,c.1396C>G,p.L466V |
| KCND1(NM_004979,potassium voltage-gated channel, Shal-related subfamily, member 1,647aa) | g.X:48822664C>T,c.1516G>A,p.V506I |
| KCND1(NM_004979,potassium voltage-gated channel, Shal-related subfamily, member 1,647aa) | g.X:48822660G>A,c.1520C>T,p.S507L |
| KCND1(NM_004979,potassium voltage-gated channel, Shal-related subfamily, member 1,647aa) | g.X:48822589A>C,c.1591T>G,p.S531A |
| KCND1(NM_004979,potassium voltage-gated channel, Shal-related subfamily, member 1,647aa) | g.X:48820063A>C,c.1723T>G,p.S575A |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110768794C>T,c.1813C>T,p.R605W |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110768708G>A,c.1727G>A,p.R576H |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110766519G>A,c.1612G>A,p.A538T |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110766517G>A,c.1610G>A,p.R537Q |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110766466G>A,c.1559G>A,p.C520Y |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110766454G>A,c.1547G>A,p.R516Q |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110766396C>T,c.1489C>T,p.P497S |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110765835G>A,c.928G>A,p.V310I |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110765824C>T,c.917C>T,p.T306M |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110765766G>A,c.859G>A,p.V287I |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110754591C>T,c.470C>T,p.A157V |
| KCNC4(NM_004978,potassium voltage-gated channel, Shaw-related subfamily, member 4,635aa) | g.1:110754350G>T,c.229G>T,p.D77Y |
| KCNC3(NM_004977,potassium voltage-gated channel, Shaw-related subfamily, member 3,757aa) | g.19:50832217C>A,c.123G>T,p.Q41H |