| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177352G>T | CA125977 | HBA1 | c.370G>T (p.Ala124Ser) c.274G>T (p.Ala92Ser) n.506G>T | ClinVar dbSNP |
| 16 | g.177352G>C | CA276417193 | HBA1 | c.370G>C (p.Ala124Pro) c.274G>C (p.Ala92Pro) n.506G>C | dbSNP |
| 16 | g.177352G>A | CA7770286 | HBA1 | c.370G>A (p.Ala124Thr) c.274G>A (p.Ala92Thr) n.506G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |