| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176796C>T | CA276416531 | HBA1 | c.80C>T (p.Ala27Val) c.-2+34C>T (n.-2+34C>T) n.99C>T n.49C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.176796C>A | CA125883 | HBA1 | c.80C>A (p.Ala27Glu) c.-2+34C>A (n.-2+34C>A) n.99C>A n.49C>A | ClinVar dbSNP |
| 16 | g.176796C= | CA2200882866 | HBA1 | c.80C= (p.Ala27=) c.-2+34C= (n.-2+34C=) n.99C= n.49C= | dbSNP |