| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249456G>T | CA379279932 | HBG1,HBG2 | c.227C>A (p.Thr76Lys) c.316-969C>A (n.316-969C>A) c.379-969C>A (n.379-969C>A) n.278C>A c.128G>T (p.Cys43Phe) c.*96C>A (n.*96C>A) | dbSNP gnomAD v4 |
| 11 | g.5249456G>C | CA379279931 | HBG1,HBG2 | c.227C>G (p.Thr76Arg) c.316-969C>G (n.316-969C>G) c.379-969C>G (n.379-969C>G) n.278C>G c.128G>C (p.Cys43Ser) c.*96C>G (n.*96C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5249456G>A | CA124578 | HBG1,HBG2 | c.227C>T (p.Thr76Ile) c.316-969C>T (n.316-969C>T) c.379-969C>T (n.379-969C>T) n.278C>T c.128G>A (p.Cys43Tyr) c.*96C>T (n.*96C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |