Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38070996T>C | CA179945 | CYP1B1 | c.1358A>G (p.Asn453Ser) n.736A>G c.245A>G (p.Asn82Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070996T>G | CA1619802 | CYP1B1 | c.1358A>C (p.Asn453Thr) n.736A>C c.245A>C (p.Asn82Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |