Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5249442C>A | CA124614 | HBG1,HBG2 | c.241G>T (p.Asp81Tyr) c.316-955G>T (n.316-955G>T) c.379-955G>T (n.379-955G>T) n.292G>T c.114C>A (p.Ile38=) c.*110G>T (n.*110G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.5249442C>T | CA124620 | HBG1,HBG2 | c.241G>A (p.Asp81Asn) c.316-955G>A (n.316-955G>A) c.379-955G>A (n.379-955G>A) n.292G>A c.114C>T (p.Ile38=) c.*110G>A (n.*110G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |