| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143339534G>A | CA258026 | CLCN1 | c.1495G>A (p.Gly499Arg) c.1319G>A n.1435G>A c.1519G>A (p.Gly507Arg) c.241G>A (p.Gly81Arg) c.1069G>A (p.Gly357Arg) c.1045G>A (p.Gly349Arg) n.1450G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.143339534G= | CA1748892880 | CLCN1 | c.1495G= (p.Gly499=) c.1319G= n.1435G= c.1519G= (p.Gly507=) c.241G= (p.Gly81=) c.1069G= (p.Gly357=) c.1045G= (p.Gly349=) n.1450G= | dbSNP |