| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176740G>A | CA492786751 | HBA1 | c.24G>A (p.Lys8=) c.-24G>A (n.-24G>A) n.43G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.176740G>C | CA125971 | HBA1 | c.24G>C (p.Lys8Asn) c.-24G>C (n.-24G>C) n.43G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.176740G= | CA2200882823 | HBA1 | c.24G= (p.Lys8=) c.-24G= (n.-24G=) n.43G= | dbSNP |