Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.177095C>A | CA126025 | HBA1 | c.262C>A (p.His88Asn) c.166C>A (p.His56Asn) n.398C>A n.231C>A | ClinVar dbSNP |
16 | g.177095C>G | CA276416983 | HBA1 | c.262C>G (p.His88Asp) c.166C>G (p.His56Asp) n.398C>G n.231C>G | dbSNP |
16 | g.177095C>T | CA125819 | HBA1 | c.262C>T (p.His88Tyr) c.166C>T (p.His56Tyr) n.398C>T n.231C>T | ClinVar dbSNP gnomAD v4 |