| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173598T>A | CA125550 | HBA2 | c.427T>A (p.Ter143Lys) c.331T>A (p.Ter111Lys) n.563T>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.173598T>C | CA125546 | HBA2 | c.427T>C (p.Ter143Gln) c.331T>C (p.Ter111Gln) n.563T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173598T>G | CA125597 | HBA2 | c.427T>G (p.Ter143Glu) c.331T>G (p.Ter111Glu) n.563T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |