| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227014T>C | CA124828 | HBB | c.8A>G (p.His3Arg) n.59A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5227014T>A | CA125381 | HBB | c.8A>T (p.His3Leu) n.59A>T | ClinVar dbSNP |
| 11 | g.5227014T>G | CA125020 | HBB | c.8A>C (p.His3Pro) n.59A>C | ClinVar dbSNP |
| 11 | g.5227014T= | CA1949571218 | HBB | c.8A= (p.His3=) n.59A= | dbSNP dbSNP |