| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143339304A>G | CA4537377 | CLCN1 | c.1453A>G (p.Met485Val) c.1277A>G n.1393A>G c.1477A>G (p.Met493Val) c.199A>G (p.Met67Val) c.1027A>G (p.Met343Val) c.1003A>G (p.Met335Val) n.1408A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143339304A= | CA1748892782 | CLCN1 | c.1453A= (p.Met485=) c.1277A= n.1393A= c.1477A= (p.Met493=) c.199A= (p.Met67=) c.1027A= (p.Met343=) c.1003A= (p.Met335=) n.1408A= | dbSNP |