| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177344C>A | CA125767 | HBA1 | c.362C>A (p.Ala121Glu) c.266C>A (p.Ala89Glu) n.498C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177344C>T | CA393995933 | HBA1 | c.362C>T (p.Ala121Val) c.266C>T (p.Ala89Val) n.498C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177344C= | CA2200883276 | HBA1 | c.362C= (p.Ala121=) c.266C= (p.Ala89=) n.498C= | dbSNP |