| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.28405258C>G | CA026507 | SLC46A1 | c.439G>C (p.Gly147Arg) n.67+423G>C n.493G>C c.175G>C (p.Gly59Arg) c.217G>C (p.Gly73Arg) | ClinVar dbSNP |
| 17 | g.28405258C= | CA2254288675 | SLC46A1 | c.439G= (p.Gly147=) n.67+423G= n.493G= c.175G= (p.Gly59=) c.217G= (p.Gly73=) | dbSNP |