| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.64596707G>A | CA210948 | CYP7B1 | c.1456C>T (p.Arg486Cys) n.508-6863C>T c.1234-6863C>T (n.1234-6863C>T) c.1522C>T (p.Arg508Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64596707G>T | CA371333135 | CYP7B1 | c.1456C>A (p.Arg486Ser) n.508-6863C>A c.1234-6863C>A (n.1234-6863C>A) c.1522C>A (p.Arg508Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |