| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177291C>A | CA276417106 | HBA1 | c.309C>A (p.Ser103Arg) c.213C>A (p.Ser71Arg) n.445C>A | ClinVar dbSNP |
| 16 | g.177291C>T | CA492994376 | HBA1 | c.309C>T (p.Ser103=) c.213C>T (p.Ser71=) n.445C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177291C= | CA2200883235 | HBA1 | c.309C= (p.Ser103=) c.213C= (p.Ser71=) n.445C= | dbSNP |