| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38075247G>A | CA346329825 | CYP1B1 | c.142C>T (p.Arg48Trp) c.-70-3937C>T (n.-70-3937C>T) n.375+533C>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.38075247G>C | CA145739 | CYP1B1 | c.142C>G (p.Arg48Gly) c.-70-3937C>G (n.-70-3937C>G) n.375+533C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38075247G= | CA1245628274 | CYP1B1 | c.142C= (p.Arg48=) c.-70-3937C= (n.-70-3937C=) n.375+533C= | dbSNP |
| 2 | g.38075247G>T | CA425865090 | CYP1B1 | c.142C>A (p.Arg48=) c.-70-3937C>A (n.-70-3937C>A) n.375+533C>A | ClinVar dbSNP gnomAD v4 |