| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177331G>C | CA125853 | HBA1 | c.349G>C (p.Glu117Gln) c.253G>C (p.Glu85Gln) n.485G>C | ClinVar dbSNP |
| 16 | g.177331G>A | CA125847 | HBA1 | c.349G>A (p.Glu117Lys) c.253G>A (p.Glu85Lys) n.485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177331G= | CA2200883269 | HBA1 | c.349G= (p.Glu117=) c.253G= (p.Glu85=) n.485G= | dbSNP |