| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.28405231C>A | CA026508 | SLC46A1 | c.466G>T (p.Asp156Tyr) n.67+450G>T n.520G>T c.202G>T (p.Asp68Tyr) c.244G>T (p.Asp82Tyr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.28405231C>G | CA398351591 | SLC46A1 | c.466G>C (p.Asp156His) n.67+450G>C n.520G>C c.202G>C (p.Asp68His) c.244G>C (p.Asp82His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |