| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226765A>C | CA125156 | HBB | c.127T>G (p.Phe43Val) n.59T>G n.178T>G c.111T>G (p.Ser37=) | ClinVar dbSNP |
| 11 | g.5226765A>G | CA125001 | HBB | c.127T>C (p.Phe43Leu) n.59T>C n.178T>C c.111T>C (p.Ser37=) | ClinVar dbSNP COSMIC |
| 11 | g.5226765A= | CA1949569333 | HBB | c.127T= (p.Phe43=) n.59T= n.178T= c.111T= (p.Ser37=) | dbSNP |