| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71553071C>T | CA253901 | DYSF | c.1813C>T (p.Gln605Ter) c.1867C>T (p.Gln623Ter) c.1816C>T (p.Gln606Ter) c.1864C>T (p.Gln622Ter) c.1909C>T (p.Gln637Ter) c.1774C>T (p.Gln592Ter) c.1906C>T (p.Gln636Ter) c.1771C>T (p.Gln591Ter) n.2067C>T | ClinVar dbSNP |
| 2 | g.71553071C= | CA1260095652 | DYSF | c.1813C= (p.Gln605=) c.1867C= (p.Gln623=) c.1816C= (p.Gln606=) c.1864C= (p.Gln622=) c.1909C= (p.Gln637=) c.1774C= (p.Gln592=) c.1906C= (p.Gln636=) c.1771C= (p.Gln591=) n.2067C= | dbSNP |