| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71611483C>A | CA426758831 | DYSF | c.1492C>A (p.Arg498=) c.709C>A (p.Arg237=) c.667C>A (p.Arg223=) c.4024C>A (p.Arg1342=) c.4078C>A (p.Arg1360=) c.4027C>A (p.Arg1343=) c.4075C>A (p.Arg1359=) c.4120C>A (p.Arg1374=) c.3985C>A (p.Arg1329=) c.4117C>A (p.Arg1373=) n.260C>A n.408C>A n.909C>A n.243C>A n.366-44C>A c.3982C>A (p.Arg1328=) n.4278C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71611483C>T | CA1706889 | DYSF | c.1492C>T (p.Arg498Trp) c.709C>T (p.Arg237Trp) c.667C>T (p.Arg223Trp) c.4024C>T (p.Arg1342Trp) c.4078C>T (p.Arg1360Trp) c.4027C>T (p.Arg1343Trp) c.4075C>T (p.Arg1359Trp) c.4120C>T (p.Arg1374Trp) c.3985C>T (p.Arg1329Trp) c.4117C>T (p.Arg1373Trp) n.260C>T n.408C>T n.909C>T n.243C>T n.366-44C>T c.3982C>T (p.Arg1328Trp) n.4278C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |