Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.177089G>T | CA125676 | HBA1 | c.256G>T (p.Asp86Tyr) c.160G>T (p.Asp54Tyr) n.392G>T n.225G>T | ClinVar dbSNP |
16 | g.177089G>A | CA125733 | HBA1 | c.256G>A (p.Asp86Asn) c.160G>A (p.Asp54Asn) n.392G>A n.225G>A | ClinVar dbSNP gnomAD v4 |
16 | g.177089G>C | CA276416974 | HBA1 | c.256G>C (p.Asp86His) c.160G>C (p.Asp54His) n.392G>C n.225G>C | ClinVar dbSNP |