| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254482A>G | CA124566 | HBG2 | c.125T>C (p.Phe42Ser) c.-41T>C (n.-41T>C) c.1671T>C (n.1671T>C) c.95T>C (p.Phe32Ser) c.87T>C (p.Val29=) c.230A>G (p.Glu77Gly) | ClinVar dbSNP |
| 11 | g.5254482A= | CA1949577513 | HBG2 | c.125T= (p.Phe42=) c.-41T= (n.-41T=) c.1671T= (n.1671T=) c.95T= (p.Phe32=) c.87T= (p.Val29=) c.230A= (p.Glu77=) | dbSNP |