| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226708T>C | CA125048 | HBB | c.184A>G (p.Lys62Glu) n.116A>G n.235A>G c.168A>G (p.Ter56Trp) | ClinVar dbSNP |
| 11 | g.5226708T>G | CA125516 | HBB | c.184A>C (p.Lys62Gln) n.116A>C n.235A>C c.168A>C (p.Ter56Cys) | ClinVar dbSNP |
| 11 | g.5226708T>A | CA125269 | HBB | c.184A>T (p.Lys62Ter) n.116A>T n.235A>T c.168A>T (p.Ter56Cys) | ClinVar dbSNP |