| 基因名 | 突变 |
|---|---|
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138662812A>G,c.1879A>G,p.I627V |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138606428C>T,c.116C>T,p.P39L |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138594163G>C,c.59G>C,p.G20A |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138594154C>T,c.50C>T,p.A17V |
| KCNS3(NM_001282428,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3,491aa) | g.2:18113623A>G,c.1348A>G,p.T450A |
| KCNS3(NM_001282428,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3,491aa) | g.2:18113420C>T,c.1145C>T,p.A382V |
| KCNS3(NM_001282428,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3,491aa) | g.2:18112840A>G,c.565A>G,p.I189V |
| KCNS3(NM_001282428,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3,491aa) | g.2:18112379G>A,c.104G>A,p.R35Q |
| KCNS2(NM_020697,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2,477aa) | g.8:99440265C>T,c.58C>T,p.R20C |
| KCNS1(NM_002251,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1,526aa) | g.20:43723758C>A,c.1334G>T,p.G445V |
| KCNS1(NM_002251,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1,526aa) | g.20:43723696G>A,c.1396C>T,p.R466C |
| KCNS1(NM_002251,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1,526aa) | g.20:43723627T>C,c.1465A>G,p.I489V |
| KCNS1(NM_002251,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1,526aa) | g.20:43723569T>C,c.1523A>G,p.Q508R |
| KCNS1(NM_002251,potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1,526aa) | g.20:43723521T>G,c.1571A>C,p.Q524P |
| KCNRG(NM_199464,potassium channel regulator,229aa) | g.13:50589904G>A,c.275G>A,p.R92H |
| KCNQ5(NM_001160133,potassium voltage-gated channel, KQT-like subfamily, member 5,951aa) | g.6:73905122T>A,c.2841T>A,p.H947Q |
| KCNQ5(NM_001160133,potassium voltage-gated channel, KQT-like subfamily, member 5,951aa) | g.6:73904577A>G,c.2296A>G,p.T766A |
| KCNQ5(NM_001160133,potassium voltage-gated channel, KQT-like subfamily, member 5,951aa) | g.6:73904557C>T,c.2276C>T,p.P759L |
| KCNQ5(NM_001160133,potassium voltage-gated channel, KQT-like subfamily, member 5,951aa) | g.6:73904448G>A,c.2167G>A,p.A723T |
| KCNQ5(NM_001160133,potassium voltage-gated channel, KQT-like subfamily, member 5,951aa) | g.6:73830249T>C,c.1169T>C,p.I390T |
| KCNQ5(NM_001160133,potassium voltage-gated channel, KQT-like subfamily, member 5,951aa) | g.6:73331939G>A,c.22G>A,p.G8R |
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41304178A>G,c.2071A>G,p.S691G |
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41303409C>G,c.1818C>G,p.D606E |
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41296962G>A,c.1499G>A,p.R500H |
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41296920A>G,c.1457A>G,p.N486S |
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41296828T>G,c.1365T>G,p.H455Q |
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41284292C>T,c.648C>T,p.R216R |
| KCNQ4(NM_004700,potassium voltage-gated channel, KQT-like subfamily, member 4,695aa) | g.1:41284190C>G,c.546C>G,p.F182L |