| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173323C>A | CA276415102 | HBA2 | c.294C>A (p.Asn98Lys) c.198C>A (p.Asn66Lys) n.430C>A n.263C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.173323C= | CA2200880783 | HBA2 | c.294C= (p.Asn98=) c.198C= (p.Asn66=) n.430C= n.263C= | dbSNP |