| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71674242C>T | CA118412 | DYSF | c.3244C>T (p.Arg1082Ter) c.2461C>T (p.Arg821Ter) c.2569C>T (p.Arg857Ter) c.5713C>T (p.Arg1905Ter) c.5830C>T (p.Arg1944Ter) c.5716C>T (p.Arg1906Ter) c.5779C>T (p.Arg1927Ter) c.5827C>T (p.Arg1943Ter) c.5809C>T (p.Arg1937Ter) c.5737C>T (p.Arg1913Ter) c.5764C>T (p.Arg1922Ter) c.5767C>T (p.Arg1923Ter) c.5806C>T (p.Arg1936Ter) c.5776C>T (p.Arg1926Ter) n.2598C>T c.5671C>T (p.Arg1891Ter) c.5734C>T (p.Arg1912Ter) c.5674C>T (p.Arg1892Ter) c.5872C>T (p.Arg1958Ter) c.5869C>T (p.Arg1957Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71674242C= | CA1260154640 | DYSF | c.3244C= (p.Arg1082=) c.2461C= (p.Arg821=) c.2569C= (p.Arg857=) c.5713C= (p.Arg1905=) c.5830C= (p.Arg1944=) c.5716C= (p.Arg1906=) c.5779C= (p.Arg1927=) c.5827C= (p.Arg1943=) c.5809C= (p.Arg1937=) c.5737C= (p.Arg1913=) c.5764C= (p.Arg1922=) c.5767C= (p.Arg1923=) c.5806C= (p.Arg1936=) c.5776C= (p.Arg1926=) n.2598C= c.5671C= (p.Arg1891=) c.5734C= (p.Arg1912=) c.5674C= (p.Arg1892=) c.5872C= (p.Arg1958=) c.5869C= (p.Arg1957=) | dbSNP |
| 2 | g.71674242C>G | CA347225184 | DYSF | c.3244C>G (p.Arg1082Gly) c.2461C>G (p.Arg821Gly) c.2569C>G (p.Arg857Gly) c.5713C>G (p.Arg1905Gly) c.5830C>G (p.Arg1944Gly) c.5716C>G (p.Arg1906Gly) c.5779C>G (p.Arg1927Gly) c.5827C>G (p.Arg1943Gly) c.5809C>G (p.Arg1937Gly) c.5737C>G (p.Arg1913Gly) c.5764C>G (p.Arg1922Gly) c.5767C>G (p.Arg1923Gly) c.5806C>G (p.Arg1936Gly) c.5776C>G (p.Arg1926Gly) n.2598C>G c.5671C>G (p.Arg1891Gly) c.5734C>G (p.Arg1912Gly) c.5674C>G (p.Arg1892Gly) c.5872C>G (p.Arg1958Gly) c.5869C>G (p.Arg1957Gly) | dbSNP gnomAD v4 |