| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249553C>T | CA124596 | HBG1,HBG2 | c.130G>A (p.Asp44Asn) c.316-1066G>A (n.316-1066G>A) c.379-1066G>A (n.379-1066G>A) n.181G>A c.225C>T (p.Val75=) c.92G>A (p.Ter31=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5249553C= | CA1949583734 | HBG1,HBG2 | c.130G= (p.Asp44=) c.316-1066G= (n.316-1066G=) c.379-1066G= (n.379-1066G=) n.181G= c.225C= (p.Val75=) c.92G= (p.Ter31=) | dbSNP |