| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249785T>C | CA124600 | HBG1,HBG2 | c.20A>G (p.Glu7Gly) c.316-1298A>G (n.316-1298A>G) c.379-1298A>G (n.379-1298A>G) n.71A>G c.338T>C (p.Leu113Pro) | ClinVar dbSNP |
| 11 | g.5249785T= | CA1949584014 | HBG1,HBG2 | c.20A= (p.Glu7=) c.316-1298A= (n.316-1298A=) c.379-1298A= (n.379-1298A=) n.71A= c.338T= (p.Leu113=) | dbSNP |