| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249789C>T | CA124612 | HBG1,HBG2 | c.16G>A (p.Glu6Lys) c.316-1302G>A (n.316-1302G>A) c.379-1302G>A (n.379-1302G>A) n.67G>A c.342C>T (p.Leu114=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5249789C= | CA1949584034 | HBG1,HBG2 | c.16G= (p.Glu6=) c.316-1302G= (n.316-1302G=) c.379-1302G= (n.379-1302G=) n.67G= c.342C= (p.Leu114=) | dbSNP |