| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177406C>T | CA125845 | HBA1 | c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T | ClinVar dbSNP |
| 16 | g.177406C>A | CA125773 | HBA1 | c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A | ClinVar dbSNP |
| 16 | g.177406C>G | CA125769 | HBA1 | c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |