| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176746C>T | CA492786778 | HBA1 | c.30C>T (p.Asn10=) c.-18C>T (n.-18C>T) n.49C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.176746C>G | CA126005 | HBA1 | c.30C>G (p.Asn10Lys) c.-18C>G (n.-18C>G) n.49C>G | ClinVar dbSNP |
| 16 | g.176746C= | CA2200882825 | HBA1 | c.30C= (p.Asn10=) c.-18C= (n.-18C=) n.49C= | dbSNP |