| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177320A>G | CA125897 | HBA1 | c.338A>G (p.His113Arg) c.242A>G (p.His81Arg) n.474A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.177320A>C | CA393995861 | HBA1 | c.338A>C (p.His113Pro) c.242A>C (p.His81Pro) n.474A>C | dbSNP COSMIC |
| 16 | g.177320A= | CA2200883258 | HBA1 | c.338A= (p.His113=) c.242A= (p.His81=) n.474A= | dbSNP |