| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71664407G>T | CA1707253 | DYSF | c.2557G>T (p.Ala853Ser) c.1774G>T (p.Ala592Ser) c.1882G>T (p.Ala628Ser) c.5026G>T (p.Ala1676Ser) c.5143G>T (p.Ala1715Ser) c.5029G>T (p.Ala1677Ser) c.5092G>T (p.Ala1698Ser) c.5140G>T (p.Ala1714Ser) c.5122G>T (p.Ala1708Ser) c.5050G>T (p.Ala1684Ser) c.5077G>T (p.Ala1693Ser) c.5080G>T (p.Ala1694Ser) c.5119G>T (p.Ala1707Ser) c.5089G>T (p.Ala1697Ser) n.1911G>T c.4984G>T (p.Ala1662Ser) c.5047G>T (p.Ala1683Ser) c.4987G>T (p.Ala1663Ser) c.5185G>T (p.Ala1729Ser) c.5182G>T (p.Ala1728Ser) n.5343G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71664407G>A | CA347220584 | DYSF | c.2557G>A (p.Ala853Thr) c.1774G>A (p.Ala592Thr) c.1882G>A (p.Ala628Thr) c.5026G>A (p.Ala1676Thr) c.5143G>A (p.Ala1715Thr) c.5029G>A (p.Ala1677Thr) c.5092G>A (p.Ala1698Thr) c.5140G>A (p.Ala1714Thr) c.5122G>A (p.Ala1708Thr) c.5050G>A (p.Ala1684Thr) c.5077G>A (p.Ala1693Thr) c.5080G>A (p.Ala1694Thr) c.5119G>A (p.Ala1707Thr) c.5089G>A (p.Ala1697Thr) n.1911G>A c.4984G>A (p.Ala1662Thr) c.5047G>A (p.Ala1683Thr) c.4987G>A (p.Ala1663Thr) c.5185G>A (p.Ala1729Thr) c.5182G>A (p.Ala1728Thr) n.5343G>A | dbSNP gnomAD v4 |
| 2 | g.71664407G= | CA1260149788 | DYSF | c.2557G= (p.Ala853=) c.1774G= (p.Ala592=) c.1882G= (p.Ala628=) c.5026G= (p.Ala1676=) c.5143G= (p.Ala1715=) c.5029G= (p.Ala1677=) c.5092G= (p.Ala1698=) c.5140G= (p.Ala1714=) c.5122G= (p.Ala1708=) c.5050G= (p.Ala1684=) c.5077G= (p.Ala1693=) c.5080G= (p.Ala1694=) c.5119G= (p.Ala1707=) c.5089G= (p.Ala1697=) n.1911G= c.4984G= (p.Ala1662=) c.5047G= (p.Ala1683=) c.4987G= (p.Ala1663=) c.5185G= (p.Ala1729=) c.5182G= (p.Ala1728=) n.5343G= | dbSNP |