| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71667376A>G | CA253911 | DYSF | c.2732A>G (p.Glu911Gly) c.1949A>G (p.Glu650Gly) c.2057A>G (p.Glu686Gly) c.5201A>G (p.Glu1734Gly) c.5318A>G (p.Glu1773Gly) c.5204A>G (p.Glu1735Gly) c.5267A>G (p.Glu1756Gly) c.5315A>G (p.Glu1772Gly) c.5297A>G (p.Glu1766Gly) c.5225A>G (p.Glu1742Gly) c.5252A>G (p.Glu1751Gly) c.5255A>G (p.Glu1752Gly) c.5294A>G (p.Glu1765Gly) c.5264A>G (p.Glu1755Gly) n.2086A>G c.5159A>G (p.Glu1720Gly) c.5222A>G (p.Glu1741Gly) c.5162A>G (p.Glu1721Gly) c.5360A>G (p.Glu1787Gly) c.5357A>G (p.Glu1786Gly) | ClinVar dbSNP |
| 2 | g.71667376A= | CA1260151243 | DYSF | c.2732A= (p.Glu911=) c.1949A= (p.Glu650=) c.2057A= (p.Glu686=) c.5201A= (p.Glu1734=) c.5318A= (p.Glu1773=) c.5204A= (p.Glu1735=) c.5267A= (p.Glu1756=) c.5315A= (p.Glu1772=) c.5297A= (p.Glu1766=) c.5225A= (p.Glu1742=) c.5252A= (p.Glu1751=) c.5255A= (p.Glu1752=) c.5294A= (p.Glu1765=) c.5264A= (p.Glu1755=) n.2086A= c.5159A= (p.Glu1720=) c.5222A= (p.Glu1741=) c.5162A= (p.Glu1721=) c.5360A= (p.Glu1787=) c.5357A= (p.Glu1786=) | dbSNP |