| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38071195C>G | CA45506580 | CYP1B1 | c.1159G>C (p.Glu387Gln) n.537G>C c.46G>C (p.Glu16Gln) n.554G>C | dbSNP |
| 2 | g.38071195C>T | CA254241 | CYP1B1 | c.1159G>A (p.Glu387Lys) n.537G>A c.46G>A (p.Glu16Lys) n.554G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071195C= | CA1245626169 | CYP1B1 | c.1159G= (p.Glu387=) n.537G= c.46G= (p.Glu16=) n.554G= | dbSNP |