| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38075234G>A | CA129038 | CYP1B1 | c.155C>T (p.Pro52Leu) c.-70-3924C>T (n.-70-3924C>T) n.375+546C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38075234G>C | CA346329801 | CYP1B1 | c.155C>G (p.Pro52Arg) c.-70-3924C>G (n.-70-3924C>G) n.375+546C>G | dbSNP gnomAD v4 |
| 2 | g.38075234G= | CA1245628265 | CYP1B1 | c.155C= (p.Pro52=) c.-70-3924C= (n.-70-3924C=) n.375+546C= | dbSNP |