| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254504C>T | CA124538 | HBG2 | c.103G>A (p.Val35Ile) c.-63G>A (n.-63G>A) c.1649G>A (n.1649G>A) c.73G>A (p.Val25Ile) c.65G>A (p.Cys22Tyr) c.252C>T (p.Asp84=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5254504C= | CA1949577532 | HBG2 | c.103G= (p.Val35=) c.-63G= (n.-63G=) c.1649G= (n.1649G=) c.73G= (p.Val25=) c.65G= (p.Cys22=) c.252C= (p.Asp84=) | dbSNP |