| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226593T>G | CA125108 | HBB | c.299A>C (p.Asp100Ala) n.231A>C n.350A>C c.*115A>C (n.*115A>C) | ClinVar dbSNP |
| 11 | g.5226593T>C | CA124918 | HBB | c.299A>G (p.Asp100Gly) n.231A>G n.350A>G c.*115A>G (n.*115A>G) | ClinVar dbSNP |
| 11 | g.5226593T>A | CA124789 | HBB | c.299A>T (p.Asp100Val) n.231A>T n.350A>T c.*115A>T (n.*115A>T) | ClinVar dbSNP |
| 11 | g.5226593T= | CA1949567467 | HBB | c.299A= (p.Asp100=) n.231A= n.350A= c.*115A= (n.*115A=) | dbSNP |