| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254486T>C | CA124569 | HBG2 | c.121A>G (p.Arg41Gly) c.-45A>G (n.-45A>G) c.1667A>G (n.1667A>G) c.91A>G (p.Arg31Gly) c.83A>G (p.Glu28Gly) c.234T>C (p.Pro78=) | ClinVar dbSNP |
| 11 | g.5254486T= | CA1949577521 | HBG2 | c.121A= (p.Arg41=) c.-45A= (n.-45A=) c.1667A= (n.1667A=) c.91A= (p.Arg31=) c.83A= (p.Glu28=) c.234T= (p.Pro78=) | dbSNP |