| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173520G>A | CA276415405 | HBA2 | c.349G>A (p.Glu117Lys) c.253G>A (p.Glu85Lys) n.485G>A | ClinVar dbSNP |
| 16 | g.173520G>C | CA276415410 | HBA2 | c.349G>C (p.Glu117Gln) c.253G>C (p.Glu85Gln) n.485G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173520G>T | CA281647 | HBA2 | c.349G>T (p.Glu117Ter) c.253G>T (p.Glu85Ter) n.485G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |