| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177329C>T | CA276417160 | HBA1 | c.347C>T (p.Ala116Val) c.251C>T (p.Ala84Val) n.483C>T | dbSNP |
| 16 | g.177329C>A | CA125791 | HBA1 | c.347C>A (p.Ala116Asp) c.251C>A (p.Ala84Asp) n.483C>A | ClinVar dbSNP |
| 16 | g.177329C= | CA2200883268 | HBA1 | c.347C= (p.Ala116=) c.251C= (p.Ala84=) n.483C= | dbSNP |