| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21304514G>A | CA6477697 | SLCO1A2 | c.502C>T (p.Arg168Cys) c.106C>T (p.Arg36Cys) n.793C>T n.530C>T c.*81C>T (n.*81C>T) c.442C>T (p.Arg148Cys) c.496C>T (p.Arg166Cys) c.34C>T (p.Arg12Cys) c.241C>T (p.Arg81Cys) c.202C>T (p.Arg68Cys) n.608C>T n.501C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21304514G>T | CA384120495 | SLCO1A2 | c.502C>A (p.Arg168Ser) c.106C>A (p.Arg36Ser) n.793C>A n.530C>A c.*81C>A (n.*81C>A) c.442C>A (p.Arg148Ser) c.496C>A (p.Arg166Ser) c.34C>A (p.Arg12Ser) c.241C>A (p.Arg81Ser) c.202C>A (p.Arg68Ser) n.608C>A n.501C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |