| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177316G>A | CA125985 | HBA1 | c.334G>A (p.Ala112Thr) c.238G>A (p.Ala80Thr) n.470G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.177316G>T | CA393995849 | HBA1 | c.334G>T (p.Ala112Ser) c.238G>T (p.Ala80Ser) n.470G>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177316G= | CA2200883254 | HBA1 | c.334G= (p.Ala112=) c.238G= (p.Ala80=) n.470G= | dbSNP |