| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5253282G>A | CA124552 | HBG2 | c.439C>T (p.His147Tyr) c.274C>T (p.His92Tyr) c.315+1010C>T (n.315+1010C>T) c.378+61C>T (n.378+61C>T) c.409C>T (p.His137Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5253282G>T | CA379263463 | HBG2 | c.439C>A (p.His147Asn) c.274C>A (p.His92Asn) c.315+1010C>A (n.315+1010C>A) c.378+61C>A (n.378+61C>A) c.409C>A (p.His137Asn) | dbSNP |