| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71679173C>T | CA16617750 | DYSF | c.3415C>T (p.Gln1139Ter) c.2632C>T (p.Gln878Ter) c.2740C>T (p.Gln914Ter) c.5884C>T (p.Gln1962Ter) c.6001C>T (p.Gln2001Ter) c.5887C>T (p.Gln1963Ter) c.5950C>T (p.Gln1984Ter) c.5998C>T (p.Gln2000Ter) c.5980C>T (p.Gln1994Ter) c.5908C>T (p.Gln1970Ter) c.5935C>T (p.Gln1979Ter) c.5938C>T (p.Gln1980Ter) c.5977C>T (p.Gln1993Ter) c.5947C>T (p.Gln1983Ter) n.2769C>T c.5842C>T (p.Gln1948Ter) c.5905C>T (p.Gln1969Ter) c.5845C>T (p.Gln1949Ter) c.6043C>T (p.Gln2015Ter) c.6040C>T (p.Gln2014Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.71679173C= | CA1260156879 | DYSF | c.3415C= (p.Gln1139=) c.2632C= (p.Gln878=) c.2740C= (p.Gln914=) c.5884C= (p.Gln1962=) c.6001C= (p.Gln2001=) c.5887C= (p.Gln1963=) c.5950C= (p.Gln1984=) c.5998C= (p.Gln2000=) c.5980C= (p.Gln1994=) c.5908C= (p.Gln1970=) c.5935C= (p.Gln1979=) c.5938C= (p.Gln1980=) c.5977C= (p.Gln1993=) c.5947C= (p.Gln1983=) n.2769C= c.5842C= (p.Gln1948=) c.5905C= (p.Gln1969=) c.5845C= (p.Gln1949=) c.6043C= (p.Gln2015=) c.6040C= (p.Gln2014=) | dbSNP |