| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177066C>G | CA125747 | HBA1 | c.233C>G (p.Pro78Arg) c.137C>G (p.Pro46Arg) n.369C>G n.202C>G | ClinVar dbSNP |
| 16 | g.177066C>A | CA276416922 | HBA1 | c.233C>A (p.Pro78His) c.137C>A (p.Pro46His) n.369C>A n.202C>A | dbSNP |
| 16 | g.177066C= | CA2200883073 | HBA1 | c.233C= (p.Pro78=) c.137C= (p.Pro46=) n.369C= n.202C= | dbSNP |