Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.177102A>T | CA125945 | HBA1 | c.269A>T (p.His90Leu) c.173A>T (p.His58Leu) n.405A>T n.238A>T | ClinVar dbSNP gnomAD v4 |
16 | g.177102A>G | CA126019 | HBA1 | c.269A>G (p.His90Arg) c.173A>G (p.His58Arg) n.405A>G n.238A>G | ClinVar dbSNP gnomAD v4 |
16 | g.177102A>C | CA126017 | HBA1 | c.269A>C (p.His90Pro) c.173A>C (p.His58Pro) n.405A>C n.238A>C | ClinVar dbSNP |