| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226609C>G | CA124736 | HBB | c.283G>C (p.Asp95His) n.215G>C n.334G>C c.*99G>C (n.*99G>C) | ClinVar dbSNP |
| 11 | g.5226609C>T | CA124774 | HBB | c.283G>A (p.Asp95Asn) n.215G>A n.334G>A c.*99G>A (n.*99G>A) | ClinVar dbSNP |
| 11 | g.5226609C>A | CA125540 | HBB | c.283G>T (p.Asp95Tyr) n.215G>T n.334G>T c.*99G>T (n.*99G>T) | ClinVar dbSNP |