| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249463C>T | CA124594 | HBG1,HBG2 | c.220G>A (p.Asp74Asn) c.316-976G>A (n.316-976G>A) c.379-976G>A (n.379-976G>A) n.271G>A c.135C>T (p.Ile45=) c.*89G>A (n.*89G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5249463C>A | CA379279951 | HBG1,HBG2 | c.220G>T (p.Asp74Tyr) c.316-976G>T (n.316-976G>T) c.379-976G>T (n.379-976G>T) n.271G>T c.135C>A (p.Ile45=) c.*89G>T (n.*89G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5249463C>G | CA124618 | HBG1,HBG2 | c.220G>C (p.Asp74His) c.316-976G>C (n.316-976G>C) c.379-976G>C (n.379-976G>C) n.271G>C c.135C>G (p.Ile45Met) c.*89G>C (n.*89G>C) | ClinVar dbSNP |