| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173506C>T | CA276415325 | HBA2 | c.335C>T (p.Ala112Val) c.239C>T (p.Ala80Val) n.471C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173506C= | CA2200880914 | HBA2 | c.335C= (p.Ala112=) c.239C= (p.Ala80=) n.471C= | dbSNP |