| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176778A>C | CA276416488 | HBA1 | c.62A>C (p.His21Pro) c.-2+16A>C (n.-2+16A>C) n.81A>C n.31A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.176778A>G | CA125755 | HBA1 | c.62A>G (p.His21Arg) c.-2+16A>G (n.-2+16A>G) n.81A>G n.31A>G | ClinVar dbSNP |
| 16 | g.176778A= | CA2200882852 | HBA1 | c.62A= (p.His21=) c.-2+16A= (n.-2+16A=) n.81A= n.31A= | dbSNP |