| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160139792G>A | CA4084005 | SLC22A1 | c.1201G>A (p.Gly401Ser) c.1061+3142G>A (n.1061+3142G>A) c.*674G>A (n.*674G>A) c.625G>A (p.Gly209Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160139792G= | CA1676923587 | SLC22A1 | c.1201G= (p.Gly401=) c.1061+3142G= (n.1061+3142G=) c.*674G= (n.*674G=) c.625G= (p.Gly209=) | dbSNP |