Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38075148A>T | CA145182 | CYP1B1 | c.241T>A (p.Tyr81Asn) c.-70-3838T>A (n.-70-3838T>A) n.375+632T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38075148A= | CA1245628202 | CYP1B1 | c.241T= (p.Tyr81=) c.-70-3838T= (n.-70-3838T=) n.375+632T= | dbSNP |
2 | g.38075148A>G | CA346329648 | CYP1B1 | c.241T>C (p.Tyr81His) c.-70-3838T>C (n.-70-3838T>C) n.375+632T>C | dbSNP gnomAD v4 |