| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225660G>T | CA124758 | HBB | c.382C>A (p.Gln128Lys) n.314C>A c.*198C>A (n.*198C>A) | ClinVar dbSNP |
| 11 | g.5225660G>C | CA124883 | HBB | c.382C>G (p.Gln128Glu) n.314C>G c.*198C>G (n.*198C>G) | ClinVar dbSNP |
| 11 | g.5225660G>A | CA5839696 | HBB | c.382C>T (p.Gln128Ter) n.314C>T c.*198C>T (n.*198C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |