| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38075218C>G | CA45511768 | CYP1B1 | c.171G>C (p.Trp57Cys) c.-70-3908G>C (n.-70-3908G>C) n.375+562G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.38075218C>T | CA119014 | CYP1B1 | c.171G>A (p.Trp57Ter) c.-70-3908G>A (n.-70-3908G>A) n.375+562G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |