| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225650T>C | CA217112430 | HBB | c.392A>G (p.Tyr131Cys) c.*208A>G (n.*208A>G) | dbSNP |
| 11 | g.5225650T>G | CA125054 | HBB | c.392A>C (p.Tyr131Ser) c.*208A>C (n.*208A>C) | ClinVar dbSNP |
| 11 | g.5225650T= | CA1949564586 | HBB | c.392A= (p.Tyr131=) c.*208A= (n.*208A=) | dbSNP |