| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177086A>C | CA125719 | HBA1 | c.253A>C (p.Ser85Arg) c.157A>C (p.Ser53Arg) n.389A>C n.222A>C | ClinVar dbSNP |
| 16 | g.177086A>G | CA276416967 | HBA1 | c.253A>G (p.Ser85Gly) c.157A>G (p.Ser53Gly) n.389A>G n.222A>G | dbSNP |
| 16 | g.177086A= | CA2200883088 | HBA1 | c.253A= (p.Ser85=) c.157A= (p.Ser53=) n.389A= n.222A= | dbSNP |