| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177293A>C | CA393995776 | HBA1 | c.311A>C (p.His104Pro) c.215A>C (p.His72Pro) n.447A>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177293A>G | CA125705 | HBA1 | c.311A>G (p.His104Arg) c.215A>G (p.His72Arg) n.447A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177293A= | CA2200883238 | HBA1 | c.311A= (p.His104=) c.215A= (p.His72=) n.447A= | dbSNP |