| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71553832G>A | CA201844 | DYSF | c.1956G>A (p.Trp652Ter) c.2010G>A (p.Trp670Ter) c.1959G>A (p.Trp653Ter) c.2007G>A (p.Trp669Ter) c.2052G>A (p.Trp684Ter) c.1917G>A (p.Trp639Ter) c.2049G>A (p.Trp683Ter) c.1914G>A (p.Trp638Ter) n.2210G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71553832G= | CA1260096028 | DYSF | c.1956G= (p.Trp652=) c.2010G= (p.Trp670=) c.1959G= (p.Trp653=) c.2007G= (p.Trp669=) c.2052G= (p.Trp684=) c.1917G= (p.Trp639=) c.2049G= (p.Trp683=) c.1914G= (p.Trp638=) n.2210G= | dbSNP |