| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5253330A>T | CA217120593 | HBG2 | c.391T>A (p.Trp131Arg) c.226T>A (p.Trp76Arg) c.315+962T>A (n.315+962T>A) c.378+13T>A (n.378+13T>A) c.361T>A (p.Trp121Arg) | dbSNP |
| 11 | g.5253330A>C | CA124532 | HBG2 | c.391T>G (p.Trp131Gly) c.226T>G (p.Trp76Gly) c.315+962T>G (n.315+962T>G) c.378+13T>G (n.378+13T>G) c.361T>G (p.Trp121Gly) | ClinVar dbSNP gnomAD v4 |