Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38075207C>G | CA346329754 | CYP1B1 | c.182G>C (p.Gly61Ala) c.-70-3897G>C (n.-70-3897G>C) n.375+573G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38075207C>T | CA254237 | CYP1B1 | c.182G>A (p.Gly61Glu) c.-70-3897G>A (n.-70-3897G>A) n.375+573G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |