| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.172981C>T | CA125652 | HBA2 | c.69C>T (p.Gly23=) c.-2+23C>T (n.-2+23C>T) n.88C>T n.38C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.172981C= | CA2200880385 | HBA2 | c.69C= (p.Gly23=) c.-2+23C= (n.-2+23C=) n.88C= n.38C= | dbSNP dbSNP |
| 16 | g.172981C>A | CA492994222 | HBA2 | c.69C>A (p.Gly23=) c.-2+23C>A (n.-2+23C>A) n.88C>A n.38C>A | dbSNP gnomAD v4 |