Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.177361G>C | CA125875 | HBA1 | c.379G>C (p.Asp127His) c.283G>C (p.Asp95His) n.515G>C | ClinVar dbSNP |
16 | g.177361G>A | CA276417196 | HBA1 | c.379G>A (p.Asp127Asn) c.283G>A (p.Asp95Asn) n.515G>A | dbSNP |
16 | g.177361G>T | CA276417201 | HBA1 | c.379G>T (p.Asp127Tyr) c.283G>T (p.Asp95Tyr) n.515G>T | ClinVar dbSNP |