| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176937T>C | CA393995055 | HBA1 | c.104T>C (p.Leu35Pro) c.8T>C (p.Leu3Pro) n.240T>C n.73T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.176937T>G | CA125851 | HBA1 | c.104T>G (p.Leu35Arg) c.8T>G (p.Leu3Arg) n.240T>G n.73T>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.176937T= | CA2200882981 | HBA1 | c.104T= (p.Leu35=) c.8T= (p.Leu3=) n.240T= n.73T= | dbSNP |