| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.97749494G>T | CA114909 | ZFYVE27 | c.572G>T (p.Gly191Val) c.476G>T (p.Gly159Val) c.314G>T (p.Gly105Val) c.278G>T (p.Gly93Val) c.218G>T (p.Gly73Val) c.335G>T (p.Gly112Val) c.368G>T (p.Gly123Val) n.772G>T n.749G>T n.771G>T n.767G>T c.611G>T (p.Gly204Val) c.536G>T (p.Gly179Val) c.239G>T (p.Gly80Val) c.32-837G>T (n.32-837G>T) n.742G>T n.700G>T n.626-837G>T n.731G>T n.388G>T n.651-3544G>T n.413G>T n.760G>T n.756G>T n.799G>T n.696G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97749494G= | CA1930570698 | ZFYVE27 | c.572G= (p.Gly191=) c.476G= (p.Gly159=) c.314G= (p.Gly105=) c.278G= (p.Gly93=) c.218G= (p.Gly73=) c.335G= (p.Gly112=) c.368G= (p.Gly123=) n.772G= n.749G= n.771G= n.767G= c.611G= (p.Gly204=) c.536G= (p.Gly179=) c.239G= (p.Gly80=) c.32-837G= (n.32-837G=) n.742G= n.700G= n.626-837G= n.731G= n.388G= n.651-3544G= n.413G= n.760G= n.756G= n.799G= n.696G= | dbSNP |