| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143341995C>G | CA369646480 | CLCN1 | c.1649C>G (p.Thr550Arg) c.1473C>G n.1589C>G c.1673C>G (p.Thr558Arg) c.395C>G (p.Thr132Arg) c.1223C>G (p.Thr408Arg) c.1199C>G (p.Thr400Arg) n.1604C>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.143341995C>T | CA347407 | CLCN1 | c.1649C>T (p.Thr550Met) c.1473C>T n.1589C>T c.1673C>T (p.Thr558Met) c.395C>T (p.Thr132Met) c.1223C>T (p.Thr408Met) c.1199C>T (p.Thr400Met) n.1604C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.143341995C= | CA1748893931 | CLCN1 | c.1649C= (p.Thr550=) c.1473C= n.1589C= c.1673C= (p.Thr558=) c.395C= (p.Thr132=) c.1223C= (p.Thr408=) c.1199C= (p.Thr400=) n.1604C= | dbSNP |