| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38071060G>A | CA1245626101 | CYP1B1 | c.1294C>T (p.Leu432=) n.672C>T c.181C>T (p.Leu61=) | dbSNP |
| 2 | g.38071060G>C | CA45506319 | CYP1B1 | c.1294C>G (p.Leu432Val) n.672C>G c.181C>G (p.Leu61Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |