| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62999835G>T | CA223626391 | SLC22A8 | c.445C>A (p.Arg149Ser) c.76C>A (p.Arg26Ser) n.166C>A n.285C>A c.172C>A (p.Arg58Ser) | dbSNP |
| 11 | g.62999835G>A | CA6059921 | SLC22A8 | c.445C>T (p.Arg149Cys) c.76C>T (p.Arg26Cys) n.166C>T n.285C>T c.172C>T (p.Arg58Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |