| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177314C>T | CA7770278 | HBA1 | c.332C>T (p.Ala111Val) c.236C>T (p.Ala79Val) n.468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177314C>A | CA125861 | HBA1 | c.332C>A (p.Ala111Asp) c.236C>A (p.Ala79Asp) n.468C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.177314C= | CA2200883253 | HBA1 | c.332C= (p.Ala111=) c.236C= (p.Ala79=) n.468C= | dbSNP |