| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173485G>A | CA125601 | HBA2 | c.314G>A (p.Cys105Tyr) c.218G>A (p.Cys73Tyr) n.450G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173485G>T | CA393994404 | HBA2 | c.314G>T (p.Cys105Phe) c.218G>T (p.Cys73Phe) n.450G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173485G= | CA2200880899 | HBA2 | c.314G= (p.Cys105=) c.218G= (p.Cys73=) n.450G= | dbSNP |