| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71669179G>T | CA222188 | DYSF | c.3028G>T (p.Glu1010Ter) c.2245G>T (p.Glu749Ter) c.2353G>T (p.Glu785Ter) c.5497G>T (p.Glu1833Ter) c.5614G>T (p.Glu1872Ter) c.5500G>T (p.Glu1834Ter) c.5563G>T (p.Glu1855Ter) c.5611G>T (p.Glu1871Ter) c.5593G>T (p.Glu1865Ter) c.5521G>T (p.Glu1841Ter) c.5548G>T (p.Glu1850Ter) c.5551G>T (p.Glu1851Ter) c.5590G>T (p.Glu1864Ter) c.5560G>T (p.Glu1854Ter) n.2382G>T c.5455G>T (p.Glu1819Ter) c.5518G>T (p.Glu1840Ter) c.5458G>T (p.Glu1820Ter) c.5656G>T (p.Glu1886Ter) c.5653G>T (p.Glu1885Ter) | ClinVar dbSNP |
| 2 | g.71669179G>C | CA347223001 | DYSF | c.3028G>C (p.Glu1010Gln) c.2245G>C (p.Glu749Gln) c.2353G>C (p.Glu785Gln) c.5497G>C (p.Glu1833Gln) c.5614G>C (p.Glu1872Gln) c.5500G>C (p.Glu1834Gln) c.5563G>C (p.Glu1855Gln) c.5611G>C (p.Glu1871Gln) c.5593G>C (p.Glu1865Gln) c.5521G>C (p.Glu1841Gln) c.5548G>C (p.Glu1850Gln) c.5551G>C (p.Glu1851Gln) c.5590G>C (p.Glu1864Gln) c.5560G>C (p.Glu1854Gln) n.2382G>C c.5455G>C (p.Glu1819Gln) c.5518G>C (p.Glu1840Gln) c.5458G>C (p.Glu1820Gln) c.5656G>C (p.Glu1886Gln) c.5653G>C (p.Glu1885Gln) | dbSNP gnomAD v4 |
| 2 | g.71669179G>A | CA1707448 | DYSF | c.3028G>A (p.Glu1010Lys) c.2245G>A (p.Glu749Lys) c.2353G>A (p.Glu785Lys) c.5497G>A (p.Glu1833Lys) c.5614G>A (p.Glu1872Lys) c.5500G>A (p.Glu1834Lys) c.5563G>A (p.Glu1855Lys) c.5611G>A (p.Glu1871Lys) c.5593G>A (p.Glu1865Lys) c.5521G>A (p.Glu1841Lys) c.5548G>A (p.Glu1850Lys) c.5551G>A (p.Glu1851Lys) c.5590G>A (p.Glu1864Lys) c.5560G>A (p.Glu1854Lys) n.2382G>A c.5455G>A (p.Glu1819Lys) c.5518G>A (p.Glu1840Lys) c.5458G>A (p.Glu1820Lys) c.5656G>A (p.Glu1886Lys) c.5653G>A (p.Glu1885Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.71669179G= | CA1260152214 | DYSF | c.3028G= (p.Glu1010=) c.2245G= (p.Glu749=) c.2353G= (p.Glu785=) c.5497G= (p.Glu1833=) c.5614G= (p.Glu1872=) c.5500G= (p.Glu1834=) c.5563G= (p.Glu1855=) c.5611G= (p.Glu1871=) c.5593G= (p.Glu1865=) c.5521G= (p.Glu1841=) c.5548G= (p.Glu1850=) c.5551G= (p.Glu1851=) c.5590G= (p.Glu1864=) c.5560G= (p.Glu1854=) n.2382G= c.5455G= (p.Glu1819=) c.5518G= (p.Glu1840=) c.5458G= (p.Glu1820=) c.5656G= (p.Glu1886=) c.5653G= (p.Glu1885=) | dbSNP |