| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177397T>G | CA393996028 | HBA1 | c.415T>G (p.Ser139Ala) c.319T>G (p.Ser107Ala) n.551T>G | dbSNP |
| 16 | g.177397T>C | CA125678 | HBA1 | c.415T>C (p.Ser139Pro) c.319T>C (p.Ser107Pro) n.551T>C | ClinVar dbSNP |
| 16 | g.177397T= | CA2200883320 | HBA1 | c.415T= (p.Ser139=) c.319T= (p.Ser107=) n.551T= | dbSNP |