| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143351633C>T | CA16043424 | CLCN1 | c.2635C>T (p.Gln879Ter) c.2459C>T n.2575C>T c.2659C>T (p.Gln887Ter) c.1381C>T (p.Gln461Ter) c.2209C>T (p.Gln737Ter) c.2185C>T (p.Gln729Ter) n.2590C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351633C= | CA1748898254 | CLCN1 | c.2635C= (p.Gln879=) c.2459C= n.2575C= c.2659C= (p.Gln887=) c.1381C= (p.Gln461=) c.2209C= (p.Gln737=) c.2185C= (p.Gln729=) n.2590C= | dbSNP |