| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173550G>T | CA276415446 | HBA2 | c.379G>T (p.Asp127Tyr) c.283G>T (p.Asp95Tyr) n.515G>T | ClinVar dbSNP COSMIC |
| 16 | g.173550G>A | CA125612 | HBA2 | c.379G>A (p.Asp127Asn) c.283G>A (p.Asp95Asn) n.515G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.173550G>C | CA276415450 | HBA2 | c.379G>C (p.Asp127His) c.283G>C (p.Asp95His) n.515G>C | dbSNP |