| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177078C>G | CA125837 | HBA1 | c.245C>G (p.Ser82Cys) c.149C>G (p.Ser50Cys) n.381C>G n.214C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177078C>A | CA393995459 | HBA1 | c.245C>A (p.Ser82Tyr) c.149C>A (p.Ser50Tyr) n.381C>A n.214C>A | dbSNP gnomAD v4 |
| 16 | g.177078C= | CA2200883081 | HBA1 | c.245C= (p.Ser82=) c.149C= (p.Ser50=) n.381C= n.214C= | dbSNP |