| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249767G>C | CA124586 | HBG1,HBG2 | c.38C>G (p.Thr13Arg) c.316-1280C>G (n.316-1280C>G) c.379-1280C>G (n.379-1280C>G) n.89C>G c.320G>C (p.Cys107Ser) | ClinVar dbSNP |
| 11 | g.5249767G>T | CA217134593 | HBG1,HBG2 | c.38C>A (p.Thr13Lys) c.316-1280C>A (n.316-1280C>A) c.379-1280C>A (n.379-1280C>A) n.89C>A c.320G>T (p.Cys107Phe) | dbSNP gnomAD v4 |