Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38074526dup | CA145184 | CYP1B1 | c.868dup (p.Arg290ProfsTer?) c.-70-3211dup (n.-70-3211dup) n.376-113dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.38074526del | CA1029495094 | CYP1B1 | c.868del (p.Arg290AlafsTer3) c.-70-3211del (n.-70-3211del) n.376-113del | ClinVar dbSNP gnomAD v4 |