| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176786G>C | CA125823 | HBA1 | c.70G>C (p.Glu24Gln) c.-2+24G>C (n.-2+24G>C) n.89G>C n.39G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.176786G>A | CA125693 | HBA1 | c.70G>A (p.Glu24Lys) c.-2+24G>A (n.-2+24G>A) n.89G>A n.39G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.176786G>T | CA276416515 | HBA1 | c.70G>T (p.Glu24Ter) c.-2+24G>T (n.-2+24G>T) n.89G>T n.39G>T | dbSNP gnomAD v3 gnomAD v4 |