| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189565370C>A | CA2024169 | SLC40A1 | c.744G>T (p.Gln248His) c.624G>T (p.Gln208His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189565370C>T | CA430502413 | SLC40A1 | c.744G>A (p.Gln248=) c.624G>A (p.Gln208=) | dbSNP |
| 2 | g.189565370C>G | CA349988525 | SLC40A1 | c.744G>C (p.Gln248His) c.624G>C (p.Gln208His) | dbSNP |
| 2 | g.189565370C= | CA1315655710 | SLC40A1 | c.744G= (p.Gln248=) c.624G= (p.Gln208=) | dbSNP |