| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176777C>G | CA276416482 | HBA1 | c.61C>G (p.His21Asp) c.-2+15C>G (n.-2+15C>G) n.80C>G n.30C>G | dbSNP |
| 16 | g.176777C>T | CA125835 | HBA1 | c.61C>T (p.His21Tyr) c.-2+15C>T (n.-2+15C>T) n.80C>T n.30C>T | ClinVar dbSNP |
| 16 | g.176777C= | CA2200882851 | HBA1 | c.61C= (p.His21=) c.-2+15C= (n.-2+15C=) n.80C= n.30C= | dbSNP |