| 基因名 | 突变 |
|---|---|
| CLCNKB(NM_000085,chloride channel, voltage-sensitive Kb,687aa) | g.1:16371067G>T,c.80G>T,p.R27L |
| CLCNKB(NM_000085,chloride channel, voltage-sensitive Kb,687aa) | g.1:16370999T>G,c.12T>G,p.F4L |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16360137C>T,c.2048C>T,p.P683L |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16358248A>G,c.1666A>G,p.T556A |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16357147C>T,c.1600C>T,p.R534W |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16356971C>T,c.1424C>T,p.S475L |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16356531G>A,c.1369G>A,p.V457I |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16356522A>G,c.1360A>G,p.T454A |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16356501G>A,c.1339G>A,p.A447T |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16355660C>T,c.1093C>T,p.H365Y |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16355638T>A,c.1071T>A,p.H357Q |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16355287C>G,c.1000C>G,p.L334V |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16354590A>T,c.944A>T,p.Y315F |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16354394C>T,c.860C>T,p.A287V |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16353896A>G,c.747A>G,p.I249M |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16353849C>T,c.700C>T,p.R234W |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16351275A>G,c.247A>G,p.R83G |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16349185C>A,c.71C>A,p.P24H |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16349169C>T,c.55C>T,p.Q19X |
| CLCNKA(NM_004070,chloride channel, voltage-sensitive Ka,687aa) | g.1:16349137G>A,c.23G>A,p.R8H |
| CLCN7(NM_001287,chloride channel, voltage-sensitive 7,805aa) | g.16:1511407G>A,c.350C>T,p.T117M |
| CLCN7(NM_001287,chloride channel, voltage-sensitive 7,805aa) | g.16:1502857C>T,c.1252G>A,p.V418M |
| CLCN7(NM_001287,chloride channel, voltage-sensitive 7,805aa) | g.16:1500652A>T,c.1463T>A,p.L488Q |
| CLCN7(NM_001287,chloride channel, voltage-sensitive 7,805aa) | g.16:1498996C>T,c.1768G>A,p.A590T |
| CLCN7(NM_001287,chloride channel, voltage-sensitive 7,805aa) | g.16:1498978C>T,c.1786G>A,p.V596I |
| CLCN7(NM_001287,chloride channel, voltage-sensitive 7,805aa) | g.16:1498436C>T,c.1933G>A,p.G645S |
| CLCN7(NM_001287,chloride channel, voltage-sensitive 7,805aa) | g.16:1497451C>T,c.2192G>A,p.R731Q |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11894592G>A,c.1738G>A,p.V580M |