| Genename | Variants |
|---|---|
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184071548C>T,c.1757G>A,p.R586Q |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184071111C>T,c.1955G>A,p.R652H |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184071075T>A,c.1991A>T,p.E664V |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184071063G>C,c.2003C>G,p.T668S |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184070907G>A,c.2057C>T,p.A686V |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184070902G>A,c.2062C>T,p.R688W |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184070901C>T,c.2063G>A,p.R688Q |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184070588C>G,c.2154G>C,p.E718D |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184070244C>T,c.2258G>A,p.R753Q |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184069817C>T,c.2399G>A,p.R800Q |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184064573C>T,c.2518G>A,p.E840K |
| CLCN2(NM_004366,chloride channel, voltage-sensitive 2,898aa) | g.3:184064417C>T,c.2674G>A,p.D892N |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143048771C>T,c.2680C>T,p.R894X |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143047697G>A,c.2545G>A,p.A849T |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143043728C>T,c.2341C>T,p.P781S |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143043725C>T,c.2338C>T,p.R780C |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143043267C>T,c.2207C>T,p.T736I |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143043240C>T,c.2180C>T,p.P727L |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143042700G>C,c.2017G>C,p.A673P |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143039102C>T,c.1663C>T,p.H555Y |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143036627G>A,c.1495G>A,p.G499R |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143029958G>A,c.1393G>A,p.V465I |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143029874G>A,c.1309G>A,p.A437T |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143029550C>T,c.1205C>T,p.A402V |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143027910G>A,c.899G>A,p.R300Q |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143018840C>T,c.595C>T,p.R199C |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143018837C>G,c.592C>G,p.L198V |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143018525C>G,c.501C>G,p.F167L |