| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173286A>G | CA276414959 | HBA2 | c.257A>G (p.Asp86Gly) c.161A>G (p.Asp54Gly) n.393A>G n.226A>G | ClinVar dbSNP |
| 16 | g.173286A>T | CA125574 | HBA2 | c.257A>T (p.Asp86Val) c.161A>T (p.Asp54Val) n.393A>T n.226A>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.173286A= | CA2200880748 | HBA2 | c.257A= (p.Asp86=) c.161A= (p.Asp54=) n.393A= n.226A= | dbSNP |