| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254474T>G | CA124516 | HBG2 | c.133A>C (p.Ser45Arg) c.-33A>C (n.-33A>C) c.1679A>C (n.1679A>C) c.103A>C (p.Ser35Arg) c.*2A>C (n.*2A>C) c.222T>G (p.Ala74=) | ClinVar dbSNP |
| 11 | g.5254474T= | CA1949577509 | HBG2 | c.133A= (p.Ser45=) c.-33A= (n.-33A=) c.1679A= (n.1679A=) c.103A= (p.Ser35=) c.*2A= (n.*2A=) c.222T= (p.Ala74=) | dbSNP |