| 基因名 | 突变 |
|---|---|
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178961023C>T,c.443G>A,p.S148N |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178960843A>G,c.623T>C,p.M208T |
| KCNMB3(NM_171829,potassium large conductance calcium-activated channel, subfamily M beta member 3,257aa) | g.3:178960767del,c.699del,p.233fs |
| KCNMB2(NM_181361,potassium large conductance calcium-activated channel, subfamily M, beta member 2,235aa) | g.3:178546108G>A,c.370G>A,p.G124R |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169812421G>A,c.31C>T,p.R11W |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169812345G>A,c.107C>T,p.T36M |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169810856T>A,c.135-2A>T,p.45Acceptor |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169810796C>T,c.193G>A,p.E65K |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169810768T>C,c.221A>G,p.Y74C |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169805956C>G,c.328G>C,p.V110L |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169805866G>A,c.418C>T,p.R140W |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169805865C>T,c.419G>A,p.R140Q |
| KCNMB1(NM_004137,potassium large conductance calcium-activated channel, subfamily M, beta member 1,191aa) | g.5:169805827C>T,c.457G>A,p.G153R |
| KCNMA1(NM_001014797,potassium large conductance calcium-activated channel, subfamily M, alpha member 1,1182aa) | g.10:79397367T>C,c.34A>G,p.S12G |
| KCNMA1(NM_001014797,potassium large conductance calcium-activated channel, subfamily M, alpha member 1,1182aa) | g.10:78839278C>A,c.1554G>T,p.K518N |
| KCNMA1(NM_001014797,potassium large conductance calcium-activated channel, subfamily M, alpha member 1,1182aa) | g.10:78729747G>A,c.2183C>T,p.S728L |
| KCNMA1(NM_001014797,potassium large conductance calcium-activated channel, subfamily M, alpha member 1,1182aa) | g.10:78709061C>T,c.2386G>A,p.V796I |
| KCNMA1(NM_001014797,potassium large conductance calcium-activated channel, subfamily M, alpha member 1,1182aa) | g.10:78674745G>A,c.2803C>T,p.R935C |
| KCNK7(NM_005714,potassium channel, subfamily K, member 7,257aa) | g.11:65363063C>T,c.181G>A,p.G61R |
| KCNK7(NM_005714,potassium channel, subfamily K, member 7,257aa) | g.11:65363060C>T,c.184G>A,p.A62T |
| KCNK7(NM_005714,potassium channel, subfamily K, member 7,257aa) | g.11:65361309T>C,c.356A>G,p.K119R |
| KCNK7(NM_005714,potassium channel, subfamily K, member 7,257aa) | g.11:65361216C>T,c.449G>A,p.R150H |
| KCNK7(NM_005714,potassium channel, subfamily K, member 7,257aa) | g.11:65360901C>T,c.764G>A,p.S255N |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817876G>A,c.775G>A,p.V259M |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817865C>A,c.764C>A,p.T255N |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817853T>C,c.752T>C,p.L251P |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817628G>A,c.718G>A,p.V240I |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817602G>A,c.692G>A,p.R231Q |