| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143342009C>T | CA4537446 | CLCN1 | c.1663C>T (p.His555Tyr) c.1487C>T n.1603C>T c.1687C>T (p.His563Tyr) c.409C>T (p.His137Tyr) c.1237C>T (p.His413Tyr) c.1213C>T (p.His405Tyr) n.1618C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143342009C= | CA1748893940 | CLCN1 | c.1663C= (p.His555=) c.1487C= n.1603C= c.1687C= (p.His563=) c.409C= (p.His137=) c.1237C= (p.His413=) c.1213C= (p.His405=) n.1618C= | dbSNP |