| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160249250A>C | CA4084546 | SLC22A2 | c.808T>G (p.Ser270Ala) c.745T>G (p.Ser249Ala) n.705T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160249250A>T | CA366342259 | SLC22A2 | c.808T>A (p.Ser270Thr) c.745T>A (p.Ser249Thr) n.705T>A | dbSNP gnomAD v4 |
| 6 | g.160249250A= | CA1676974871 | SLC22A2 | c.808T= (p.Ser270=) c.745T= (p.Ser249=) n.705T= | dbSNP |
| 6 | g.160249250A>G | CA366342258 | SLC22A2 | c.808T>C (p.Ser270Pro) c.745T>C (p.Ser249Pro) n.705T>C | dbSNP |