Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38076389G>A | CA11063867 | CYP1B1 | c.-70-5079C>T (n.-70-5079C>T) c.1003G>A (p.Glu335Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076389G= | CA1245628889 | CYP1B1 | c.-70-5079C= (n.-70-5079C=) c.1003G= (p.Glu335=) | dbSNP |