| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173503C>A | CA276415316 | HBA2 | c.332C>A (p.Ala111Asp) c.236C>A (p.Ala79Asp) n.468C>A | dbSNP |
| 16 | g.173503C>T | CA125599 | HBA2 | c.332C>T (p.Ala111Val) c.236C>T (p.Ala79Val) n.468C>T | ClinVar dbSNP |
| 16 | g.173503C= | CA2200880911 | HBA2 | c.332C= (p.Ala111=) c.236C= (p.Ala79=) n.468C= | dbSNP |