| 基因名 | 突变 |
|---|---|
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817577G>A,c.667G>A,p.G223R |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817410G>A,c.500G>A,p.R167Q |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817406C>T,c.496C>T,p.R166W |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817364G>A,c.454G>A,p.V152M |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817359C>T,c.449C>T,p.T150I |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38817232G>A,c.323-1G>A,p.108Acceptor |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38810904C>T,c.314C>T,p.T105I |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38810744C>G,c.154C>G,p.P52A |
| KCNK6(NM_004823,potassium channel, subfamily K, member 6,313aa) | g.19:38810700G>A,c.110G>A,p.R37Q |
| KCNK5(NM_003740,potassium channel, subfamily K, member 5,499aa) | g.6:39162068C>T,c.511G>A,p.V171I |
| KCNK5(NM_003740,potassium channel, subfamily K, member 5,499aa) | g.6:39159379G>A,c.787C>T,p.R263W |
| KCNK5(NM_003740,potassium channel, subfamily K, member 5,499aa) | g.6:39159378C>T,c.788G>A,p.R263Q |
| KCNK5(NM_003740,potassium channel, subfamily K, member 5,499aa) | g.6:39159213C>A,c.953G>T,p.G318V |
| KCNK5(NM_003740,potassium channel, subfamily K, member 5,499aa) | g.6:39159142C>T,c.1024G>A,p.V342M |
| KCNK5(NM_003740,potassium channel, subfamily K, member 5,499aa) | g.6:39159072T>A,c.1094A>T,p.K365I |
| KCNK5(NM_003740,potassium channel, subfamily K, member 5,499aa) | g.6:39158947C>T,c.1219G>A,p.A407T |
| KCNK4(NM_033310,potassium channel, subfamily K, member 4,393aa) | g.11:64067133del,c.1117del,p.373fs |
| KCNK4(NM_033310,potassium channel, subfamily K, member 4,393aa) | g.11:64067110C>T,c.1094C>T,p.P365L |
| KCNK4(NM_033310,potassium channel, subfamily K, member 4,393aa) | g.11:64066999C>T,c.983C>T,p.P328L |
| KCNK4(NM_033310,potassium channel, subfamily K, member 4,393aa) | g.11:64065101G>A,c.637G>A,p.V213M |
| KCNK2(NM_001017424,potassium channel, subfamily K, member 2,422aa) | g.1:215408476G>C,c.1257G>C,p.E419D |
| KCNK2(NM_001017424,potassium channel, subfamily K, member 2,422aa) | g.1:215408418G>A,c.1199G>A,p.S400N |
| KCNK2(NM_001017424,potassium channel, subfamily K, member 2,422aa) | g.1:215345503T>C,c.788T>C,p.I263T |
| KCNK2(NM_001017424,potassium channel, subfamily K, member 2,422aa) | g.1:215298010C>T,c.380C>T,p.P127L |
| KCNK1(NM_002245,potassium channel, subfamily K, member 1,336aa) | g.1:233807173C>T,c.908C>T,p.S303L |
| KCNK1(NM_002245,potassium channel, subfamily K, member 1,336aa) | g.1:233802569T>G,c.584T>G,p.F195C |
| KCNK1(NM_002245,potassium channel, subfamily K, member 1,336aa) | g.1:233802497G>A,c.512G>A,p.R171H |
| KCNK1(NM_002245,potassium channel, subfamily K, member 1,336aa) | g.1:233802463G>A,c.478G>A,p.V160I |