| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173533C>A | CA276415423 | HBA2 | c.362C>A (p.Ala121Glu) c.266C>A (p.Ala89Glu) n.498C>A | dbSNP |
| 16 | g.173533C= | CA2200880939 | HBA2 | c.362C= (p.Ala121=) c.266C= (p.Ala89=) n.498C= | dbSNP dbSNP |
| 16 | g.173533C>T | CA393994533 | HBA2 | c.362C>T (p.Ala121Val) c.266C>T (p.Ala89Val) n.498C>T | dbSNP gnomAD v4 |