Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.99830363G>C | CA5643553 | ABCC2 | c.2677G>C (p.Glu893Gln) c.1981G>C (p.Glu661Gln) c.*104G>C (n.*104G>C) n.2866G>C n.2868G>C n.2920G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.99830363G>A | CA5643552 | ABCC2 | c.2677G>A (p.Glu893Lys) c.1981G>A (p.Glu661Lys) c.*104G>A (n.*104G>A) n.2866G>A n.2868G>A n.2920G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |