| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225686A>C | CA125472 | HBB | c.356T>G (p.Phe119Cys) n.288T>G c.*172T>G (n.*172T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225686A>T | CA125028 | HBB | c.356T>A (p.Phe119Tyr) n.288T>A c.*172T>A (n.*172T>A) | ClinVar dbSNP |
| 11 | g.5225686A>G | CA217112673 | HBB | c.356T>C (p.Phe119Ser) n.288T>C c.*172T>C (n.*172T>C) | dbSNP gnomAD v3 gnomAD v4 |