| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177103C>G | CA126013 | HBA1 | c.270C>G (p.His90Gln) c.174C>G (p.His58Gln) n.406C>G n.239C>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.177103C>A | CA276416995 | HBA1 | c.270C>A (p.His90Gln) c.174C>A (p.His58Gln) n.406C>A n.239C>A | dbSNP |
| 16 | g.177103C= | CA2200883103 | HBA1 | c.270C= (p.His90=) c.174C= (p.His58=) n.406C= n.239C= | dbSNP |