| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227017A>T | CA124834 | HBB | c.5T>A (p.Val2Glu) n.56T>A | ClinVar dbSNP |
| 11 | g.5227017A>G | CA125122 | HBB | c.5T>C (p.Val2Ala) n.56T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227017A>C | CA125494 | HBB | c.5T>G (p.Val2Gly) n.56T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5227017A= | CA1949571258 | HBB | c.5T= (p.Val2=) n.56T= | dbSNP |