| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176781C>A | CA125779 | HBA1 | c.65C>A (p.Ala22Asp) c.-2+19C>A (n.-2+19C>A) n.84C>A n.34C>A | ClinVar dbSNP |
| 16 | g.176781C>T | CA276416509 | HBA1 | c.65C>T (p.Ala22Val) c.-2+19C>T (n.-2+19C>T) n.84C>T n.34C>T | dbSNP |
| 16 | g.176781C= | CA2200882855 | HBA1 | c.65C= (p.Ala22=) c.-2+19C= (n.-2+19C=) n.84C= n.34C= | dbSNP |