| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.28405360G>T | CA026505 | SLC46A1 | c.337C>A (p.Arg113Ser) n.67+321C>A n.391C>A c.73C>A (p.Arg25Ser) c.115C>A (p.Arg39Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.28405360G>A | CA026506 | SLC46A1 | c.337C>T (p.Arg113Cys) n.67+321C>T n.391C>T c.73C>T (p.Arg25Cys) c.115C>T (p.Arg39Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |