| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38071186G>T | CA1619848 | CYP1B1 | c.1168C>A (p.Arg390Ser) n.546C>A c.55C>A (p.Arg19Ser) n.563C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071186G>A | CA1619847 | CYP1B1 | c.1168C>T (p.Arg390Cys) n.546C>T c.55C>T (p.Arg19Cys) n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |