| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173548T>G | CA125658 | HBA2 | c.377T>G (p.Leu126Arg) c.281T>G (p.Leu94Arg) n.513T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173548T>A | CA276415438 | HBA2 | c.377T>A (p.Leu126Gln) c.281T>A (p.Leu94Gln) n.513T>A | ClinVar dbSNP |
| 16 | g.173548T>C | CA125557 | HBA2 | c.377T>C (p.Leu126Pro) c.281T>C (p.Leu94Pro) n.513T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |