| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189571799T>C | CA349989223 | SLC40A1 | c.430A>G (p.Asn144Asp) c.310A>G (p.Asn104Asp) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189571799T>G | CA117515 | SLC40A1 | c.430A>C (p.Asn144His) c.310A>C (p.Asn104His) | ClinVar dbSNP |
| 2 | g.189571799T>A | CA10581910 | SLC40A1 | c.430A>T (p.Asn144Tyr) c.310A>T (p.Asn104Tyr) | ClinVar dbSNP |