| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249522G>T | CA124582 | HBG1,HBG2 | c.161C>A (p.Ala54Asp) c.316-1035C>A (n.316-1035C>A) c.379-1035C>A (n.379-1035C>A) n.212C>A c.194G>T (p.Gly65Val) c.*30C>A (n.*30C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5249522G>A | CA379280118 | HBG1,HBG2 | c.161C>T (p.Ala54Val) c.316-1035C>T (n.316-1035C>T) c.379-1035C>T (n.379-1035C>T) n.212C>T c.194G>A (p.Gly65Asp) c.*30C>T (n.*30C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5249522G= | CA1949583718 | HBG1,HBG2 | c.161C= (p.Ala54=) c.316-1035C= (n.316-1035C=) c.379-1035C= (n.379-1035C=) n.212C= c.194G= (p.Gly65=) c.*30C= (n.*30C=) | dbSNP |