| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254380A>G | CA124562 | HBG2 | c.227T>C (p.Ile76Thr) c.62T>C (p.Ile21Thr) c.197T>C (p.Ile66Thr) c.*96T>C (n.*96T>C) c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254380A= | CA1949577364 | HBG2 | c.227T= (p.Ile76=) c.62T= (p.Ile21=) c.197T= (p.Ile66=) c.*96T= (n.*96T=) c.128A= (p.Tyr43=) | dbSNP |