| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62996135A>C | CA223623936 | SLC22A8 | c.779T>G (p.Ile260Arg) c.410T>G (p.Ile137Arg) n.597T>G n.500T>G n.619T>G c.506T>G (p.Ile169Arg) | dbSNP |
| 11 | g.62996135A= | CA1978013277 | SLC22A8 | c.779T= (p.Ile260=) c.410T= (p.Ile137=) n.597T= n.500T= n.619T= c.506T= (p.Ile169=) | dbSNP |
| 11 | g.62996135A>G | CA380982790 | SLC22A8 | c.779T>C (p.Ile260Thr) c.410T>C (p.Ile137Thr) n.597T>C n.500T>C n.619T>C c.506T>C (p.Ile169Thr) | dbSNP gnomAD v4 |