| 基因名 | 突变 |
|---|---|
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11894062C>T,c.1501C>T,p.R501C |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11893948G>A,c.1387G>A,p.V463I |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11889345C>T,c.1214C>T,p.S405L |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11889290G>A,c.1159G>A,p.V387M |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11884555A>G,c.593A>G,p.E198G |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11883815G>A,c.505G>A,p.V169I |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11883770G>T,c.460G>T,p.A154S |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11879596G>A,c.331G>A,p.G111R |
| CLCN6(NM_001286,chloride channel, voltage-sensitive 6,869aa) | g.1:11866357G>A,c.38G>A,p.R13K |
| CLCN5(NM_001127899,chloride channel, voltage-sensitive 5,816aa) | g.X:49851267G>A,c.1297G>A,p.V433M |
| CLCN5(NM_001127899,chloride channel, voltage-sensitive 5,816aa) | g.X:49851232A>G,c.1262A>G,p.Q421R |
| CLCN5(NM_001127899,chloride channel, voltage-sensitive 5,816aa) | g.X:49851214G>A,c.1244G>A,p.R415Q |
| CLCN5(NM_001127899,chloride channel, voltage-sensitive 5,816aa) | g.X:49850644C>T,c.941C>T,p.S314L |
| CLCN5(NM_001127899,chloride channel, voltage-sensitive 5,816aa) | g.X:49846367A>G,c.796A>G,p.I266V |
| CLCN4(NM_001830,chloride channel, voltage-sensitive 4,760aa) | g.X:10176604G>A,c.1363G>A,p.V455I |
| CLCN4(NM_001830,chloride channel, voltage-sensitive 4,760aa) | g.X:10153089C>T,c.17C>T,p.A6V |
| CLCN4(NM_001830,chloride channel, voltage-sensitive 4,760aa) | g.X:10153083C>T,c.11C>T,p.A4V |
| CLCN3(NM_173872,chloride channel, voltage-sensitive 3,866aa) | g.4:170641112G>A,c.2497G>A,p.G833S |
| CLCN3(NM_173872,chloride channel, voltage-sensitive 3,866aa) | g.4:170634259G>A,c.2179G>A,p.V727I |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184076909C>T,c.74G>A,p.R25Q |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184076576G>C,c.246C>G,p.F82L |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184076554C>G,c.268G>C,p.D90H |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184075626C>T,c.634G>A,p.A212T |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184075476C>T,c.704G>A,p.R235Q |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184075461A>G,c.719T>C,p.L240P |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184074847T>C,c.1019A>G,p.Y340C |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184073511G>C,c.1141C>G,p.P381A |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184071905C>T,c.1705G>A,p.G569S |