| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189564177T>G | CA2024143 | SLC40A1 | c.809A>C (p.Asp270Ala) c.689A>C (p.Asp230Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189564177T>A | CA346931 | SLC40A1 | c.809A>T (p.Asp270Val) c.689A>T (p.Asp230Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189564177T>C | CA349988374 | SLC40A1 | c.809A>G (p.Asp270Gly) c.689A>G (p.Asp230Gly) | dbSNP |