Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71669179delCA2586969526DYSFc.3028del (p.Glu1010ArgfsTer3)
c.2245del (p.Glu749ArgfsTer3)
c.2353del (p.Glu785ArgfsTer3)
c.5497del (p.Glu1833ArgfsTer3)
c.5614del (p.Glu1872ArgfsTer3)
c.5500del (p.Glu1834ArgfsTer3)
c.5563del (p.Glu1855ArgfsTer3)
c.5611del (p.Glu1871ArgfsTer3)
c.5593del (p.Glu1865ArgfsTer3)
c.5521del (p.Glu1841ArgfsTer3)
c.5548del (p.Glu1850ArgfsTer3)
c.5551del (p.Glu1851ArgfsTer3)
c.5590del (p.Glu1864ArgfsTer3)
c.5560del (p.Glu1854ArgfsTer3)
n.2382del
c.5455del (p.Glu1819ArgfsTer3)
c.5518del (p.Glu1840ArgfsTer3)
c.5458del (p.Glu1820ArgfsTer3)
c.5656del (p.Glu1886ArgfsTer3)
c.5653del (p.Glu1885ArgfsTer3)
 gnomAD v4
2g.71669179G>ACA1707448DYSFc.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
2g.71669179G>CCA347223001DYSFc.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
2g.71669179G=CA1260152214DYSFc.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=)
2g.71669179G>TCA222188DYSFc.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
2g.71669180A=CA1260152215DYSFc.3029A= (p.Glu1010=)
c.2246A= (p.Glu749=)
c.2354A= (p.Glu785=)
c.5498A= (p.Glu1833=)
c.5615A= (p.Glu1872=)
c.5501A= (p.Glu1834=)
c.5564A= (p.Glu1855=)
c.5612A= (p.Glu1871=)
c.5594A= (p.Glu1865=)
c.5522A= (p.Glu1841=)
c.5549A= (p.Glu1850=)
c.5552A= (p.Glu1851=)
c.5591A= (p.Glu1864=)
c.5561A= (p.Glu1854=)
n.2383A=
c.5456A= (p.Glu1819=)
c.5519A= (p.Glu1840=)
c.5459A= (p.Glu1820=)
c.5657A= (p.Glu1886=)
c.5654A= (p.Glu1885=)
2g.71669180A>CCA1707449DYSFc.3029A>C (p.Glu1010Ala)
c.2246A>C (p.Glu749Ala)
c.2354A>C (p.Glu785Ala)
c.5498A>C (p.Glu1833Ala)
c.5615A>C (p.Glu1872Ala)
c.5501A>C (p.Glu1834Ala)
c.5564A>C (p.Glu1855Ala)
c.5612A>C (p.Glu1871Ala)
c.5594A>C (p.Glu1865Ala)
c.5522A>C (p.Glu1841Ala)
c.5549A>C (p.Glu1850Ala)
c.5552A>C (p.Glu1851Ala)
c.5591A>C (p.Glu1864Ala)
c.5561A>C (p.Glu1854Ala)
n.2383A>C
c.5456A>C (p.Glu1819Ala)
c.5519A>C (p.Glu1840Ala)
c.5459A>C (p.Glu1820Ala)
c.5657A>C (p.Glu1886Ala)
c.5654A>C (p.Glu1885Ala)
 dbSNP ExAC gnomAD v4
2g.71669180A>GCA347223008DYSFc.3029A>G (p.Glu1010Gly)
c.2246A>G (p.Glu749Gly)
c.2354A>G (p.Glu785Gly)
c.5498A>G (p.Glu1833Gly)
c.5615A>G (p.Glu1872Gly)
c.5501A>G (p.Glu1834Gly)
c.5564A>G (p.Glu1855Gly)
c.5612A>G (p.Glu1871Gly)
c.5594A>G (p.Glu1865Gly)
c.5522A>G (p.Glu1841Gly)
c.5549A>G (p.Glu1850Gly)
c.5552A>G (p.Glu1851Gly)
c.5591A>G (p.Glu1864Gly)
c.5561A>G (p.Glu1854Gly)
n.2383A>G
c.5456A>G (p.Glu1819Gly)
c.5519A>G (p.Glu1840Gly)
c.5459A>G (p.Glu1820Gly)
c.5657A>G (p.Glu1886Gly)
c.5654A>G (p.Glu1885Gly)
2g.71669180A>TCA347223011DYSFc.3029A>T (p.Glu1010Val)
c.2246A>T (p.Glu749Val)
c.2354A>T (p.Glu785Val)
c.5498A>T (p.Glu1833Val)
c.5615A>T (p.Glu1872Val)
c.5501A>T (p.Glu1834Val)
c.5564A>T (p.Glu1855Val)
c.5612A>T (p.Glu1871Val)
c.5594A>T (p.Glu1865Val)
c.5522A>T (p.Glu1841Val)
c.5549A>T (p.Glu1850Val)
c.5552A>T (p.Glu1851Val)
c.5591A>T (p.Glu1864Val)
c.5561A>T (p.Glu1854Val)
n.2383A>T
c.5456A>T (p.Glu1819Val)
c.5519A>T (p.Glu1840Val)
c.5459A>T (p.Glu1820Val)
c.5657A>T (p.Glu1886Val)
c.5654A>T (p.Glu1885Val)
2g.71669181G>ACA426704450DYSFc.3030G>A (p.Glu1010=)
c.2247G>A (p.Glu749=)
c.2355G>A (p.Glu785=)
c.5499G>A (p.Glu1833=)
c.5616G>A (p.Glu1872=)
c.5502G>A (p.Glu1834=)
c.5565G>A (p.Glu1855=)
c.5613G>A (p.Glu1871=)
c.5595G>A (p.Glu1865=)
c.5523G>A (p.Glu1841=)
c.5550G>A (p.Glu1850=)
c.5553G>A (p.Glu1851=)
c.5592G>A (p.Glu1864=)
c.5562G>A (p.Glu1854=)
n.2384G>A
c.5457G>A (p.Glu1819=)
c.5520G>A (p.Glu1840=)
c.5460G>A (p.Glu1820=)
c.5658G>A (p.Glu1886=)
c.5655G>A (p.Glu1885=)
2g.71669181G>CCA347223012DYSFc.3030G>C (p.Glu1010Asp)
c.2247G>C (p.Glu749Asp)
c.2355G>C (p.Glu785Asp)
c.5499G>C (p.Glu1833Asp)
c.5616G>C (p.Glu1872Asp)
c.5502G>C (p.Glu1834Asp)
c.5565G>C (p.Glu1855Asp)
c.5613G>C (p.Glu1871Asp)
c.5595G>C (p.Glu1865Asp)
c.5523G>C (p.Glu1841Asp)
c.5550G>C (p.Glu1850Asp)
c.5553G>C (p.Glu1851Asp)
c.5592G>C (p.Glu1864Asp)
c.5562G>C (p.Glu1854Asp)
n.2384G>C
c.5457G>C (p.Glu1819Asp)
c.5520G>C (p.Glu1840Asp)
c.5460G>C (p.Glu1820Asp)
c.5658G>C (p.Glu1886Asp)
c.5655G>C (p.Glu1885Asp)
 dbSNP gnomAD v4
2g.71669181G=CA1260152216DYSFc.3030G= (p.Glu1010=)
c.2247G= (p.Glu749=)
c.2355G= (p.Glu785=)
c.5499G= (p.Glu1833=)
c.5616G= (p.Glu1872=)
c.5502G= (p.Glu1834=)
c.5565G= (p.Glu1855=)
c.5613G= (p.Glu1871=)
c.5595G= (p.Glu1865=)
c.5523G= (p.Glu1841=)
c.5550G= (p.Glu1850=)
c.5553G= (p.Glu1851=)
c.5592G= (p.Glu1864=)
c.5562G= (p.Glu1854=)
n.2384G=
c.5457G= (p.Glu1819=)
c.5520G= (p.Glu1840=)
c.5460G= (p.Glu1820=)
c.5658G= (p.Glu1886=)
c.5655G= (p.Glu1885=)
2g.71669181G>TCA347223014DYSFc.3030G>T (p.Glu1010Asp)
c.2247G>T (p.Glu749Asp)
c.2355G>T (p.Glu785Asp)
c.5499G>T (p.Glu1833Asp)
c.5616G>T (p.Glu1872Asp)
c.5502G>T (p.Glu1834Asp)
c.5565G>T (p.Glu1855Asp)
c.5613G>T (p.Glu1871Asp)
c.5595G>T (p.Glu1865Asp)
c.5523G>T (p.Glu1841Asp)
c.5550G>T (p.Glu1850Asp)
c.5553G>T (p.Glu1851Asp)
c.5592G>T (p.Glu1864Asp)
c.5562G>T (p.Glu1854Asp)
n.2384G>T
c.5457G>T (p.Glu1819Asp)
c.5520G>T (p.Glu1840Asp)
c.5460G>T (p.Glu1820Asp)
c.5658G>T (p.Glu1886Asp)
c.5655G>T (p.Glu1885Asp)
2g.71669182A=CA1260152217DYSFc.3031A= (p.Lys1011=)
c.2248A= (p.Lys750=)
c.2356A= (p.Lys786=)
c.5500A= (p.Lys1834=)
c.5617A= (p.Lys1873=)
c.5503A= (p.Lys1835=)
c.5566A= (p.Lys1856=)
c.5614A= (p.Lys1872=)
c.5596A= (p.Lys1866=)
c.5524A= (p.Lys1842=)
c.5551A= (p.Lys1851=)
c.5554A= (p.Lys1852=)
c.5593A= (p.Lys1865=)
c.5563A= (p.Lys1855=)
n.2385A=
c.5458A= (p.Lys1820=)
c.5521A= (p.Lys1841=)
c.5461A= (p.Lys1821=)
c.5659A= (p.Lys1887=)
c.5656A= (p.Lys1886=)
2g.71669182A>CCA347223017DYSFc.3031A>C (p.Lys1011Gln)
c.2248A>C (p.Lys750Gln)
c.2356A>C (p.Lys786Gln)
c.5500A>C (p.Lys1834Gln)
c.5617A>C (p.Lys1873Gln)
c.5503A>C (p.Lys1835Gln)
c.5566A>C (p.Lys1856Gln)
c.5614A>C (p.Lys1872Gln)
c.5596A>C (p.Lys1866Gln)
c.5524A>C (p.Lys1842Gln)
c.5551A>C (p.Lys1851Gln)
c.5554A>C (p.Lys1852Gln)
c.5593A>C (p.Lys1865Gln)
c.5563A>C (p.Lys1855Gln)
n.2385A>C
c.5458A>C (p.Lys1820Gln)
c.5521A>C (p.Lys1841Gln)
c.5461A>C (p.Lys1821Gln)
c.5659A>C (p.Lys1887Gln)
c.5656A>C (p.Lys1886Gln)
2g.71669182A>GCA347223020DYSFc.3031A>G (p.Lys1011Glu)
c.2248A>G (p.Lys750Glu)
c.2356A>G (p.Lys786Glu)
c.5500A>G (p.Lys1834Glu)
c.5617A>G (p.Lys1873Glu)
c.5503A>G (p.Lys1835Glu)
c.5566A>G (p.Lys1856Glu)
c.5614A>G (p.Lys1872Glu)
c.5596A>G (p.Lys1866Glu)
c.5524A>G (p.Lys1842Glu)
c.5551A>G (p.Lys1851Glu)
c.5554A>G (p.Lys1852Glu)
c.5593A>G (p.Lys1865Glu)
c.5563A>G (p.Lys1855Glu)
n.2385A>G
c.5458A>G (p.Lys1820Glu)
c.5521A>G (p.Lys1841Glu)
c.5461A>G (p.Lys1821Glu)
c.5659A>G (p.Lys1887Glu)
c.5656A>G (p.Lys1886Glu)
2g.71669182A>TCA347223021DYSFc.3031A>T (p.Lys1011Ter)
c.2248A>T (p.Lys750Ter)
c.2356A>T (p.Lys786Ter)
c.5500A>T (p.Lys1834Ter)
c.5617A>T (p.Lys1873Ter)
c.5503A>T (p.Lys1835Ter)
c.5566A>T (p.Lys1856Ter)
c.5614A>T (p.Lys1872Ter)
c.5596A>T (p.Lys1866Ter)
c.5524A>T (p.Lys1842Ter)
c.5551A>T (p.Lys1851Ter)
c.5554A>T (p.Lys1852Ter)
c.5593A>T (p.Lys1865Ter)
c.5563A>T (p.Lys1855Ter)
n.2385A>T
c.5458A>T (p.Lys1820Ter)
c.5521A>T (p.Lys1841Ter)
c.5461A>T (p.Lys1821Ter)
c.5659A>T (p.Lys1887Ter)
c.5656A>T (p.Lys1886Ter)
 ClinVar dbSNP
2g.71669183A>CCA347223025DYSFc.3032A>C (p.Lys1011Thr)
c.2249A>C (p.Lys750Thr)
c.2357A>C (p.Lys786Thr)
c.5501A>C (p.Lys1834Thr)
c.5618A>C (p.Lys1873Thr)
c.5504A>C (p.Lys1835Thr)
c.5567A>C (p.Lys1856Thr)
c.5615A>C (p.Lys1872Thr)
c.5597A>C (p.Lys1866Thr)
c.5525A>C (p.Lys1842Thr)
c.5552A>C (p.Lys1851Thr)
c.5555A>C (p.Lys1852Thr)
c.5594A>C (p.Lys1865Thr)
c.5564A>C (p.Lys1855Thr)
n.2386A>C
c.5459A>C (p.Lys1820Thr)
c.5522A>C (p.Lys1841Thr)
c.5462A>C (p.Lys1821Thr)
c.5660A>C (p.Lys1887Thr)
c.5657A>C (p.Lys1886Thr)
2g.71669183A>GCA347223027DYSFc.3032A>G (p.Lys1011Arg)
c.2249A>G (p.Lys750Arg)
c.2357A>G (p.Lys786Arg)
c.5501A>G (p.Lys1834Arg)
c.5618A>G (p.Lys1873Arg)
c.5504A>G (p.Lys1835Arg)
c.5567A>G (p.Lys1856Arg)
c.5615A>G (p.Lys1872Arg)
c.5597A>G (p.Lys1866Arg)
c.5525A>G (p.Lys1842Arg)
c.5552A>G (p.Lys1851Arg)
c.5555A>G (p.Lys1852Arg)
c.5594A>G (p.Lys1865Arg)
c.5564A>G (p.Lys1855Arg)
n.2386A>G
c.5459A>G (p.Lys1820Arg)
c.5522A>G (p.Lys1841Arg)
c.5462A>G (p.Lys1821Arg)
c.5660A>G (p.Lys1887Arg)
c.5657A>G (p.Lys1886Arg)
2g.71669183A>TCA347223029DYSFc.3032A>T (p.Lys1011Met)
c.2249A>T (p.Lys750Met)
c.2357A>T (p.Lys786Met)
c.5501A>T (p.Lys1834Met)
c.5618A>T (p.Lys1873Met)
c.5504A>T (p.Lys1835Met)
c.5567A>T (p.Lys1856Met)
c.5615A>T (p.Lys1872Met)
c.5597A>T (p.Lys1866Met)
c.5525A>T (p.Lys1842Met)
c.5552A>T (p.Lys1851Met)
c.5555A>T (p.Lys1852Met)
c.5594A>T (p.Lys1865Met)
c.5564A>T (p.Lys1855Met)
n.2386A>T
c.5459A>T (p.Lys1820Met)
c.5522A>T (p.Lys1841Met)
c.5462A>T (p.Lys1821Met)
c.5660A>T (p.Lys1887Met)
c.5657A>T (p.Lys1886Met)
2g.71669184G>ACA426704451DYSFc.3033G>A (p.Lys1011=)
c.2250G>A (p.Lys750=)
c.2358G>A (p.Lys786=)
c.5502G>A (p.Lys1834=)
c.5619G>A (p.Lys1873=)
c.5505G>A (p.Lys1835=)
c.5568G>A (p.Lys1856=)
c.5616G>A (p.Lys1872=)
c.5598G>A (p.Lys1866=)
c.5526G>A (p.Lys1842=)
c.5553G>A (p.Lys1851=)
c.5556G>A (p.Lys1852=)
c.5595G>A (p.Lys1865=)
c.5565G>A (p.Lys1855=)
n.2387G>A
c.5460G>A (p.Lys1820=)
c.5523G>A (p.Lys1841=)
c.5463G>A (p.Lys1821=)
c.5661G>A (p.Lys1887=)
c.5658G>A (p.Lys1886=)
 dbSNP gnomAD v2
2g.71669184G>CCA347223031DYSFc.3033G>C (p.Lys1011Asn)
c.2250G>C (p.Lys750Asn)
c.2358G>C (p.Lys786Asn)
c.5502G>C (p.Lys1834Asn)
c.5619G>C (p.Lys1873Asn)
c.5505G>C (p.Lys1835Asn)
c.5568G>C (p.Lys1856Asn)
c.5616G>C (p.Lys1872Asn)
c.5598G>C (p.Lys1866Asn)
c.5526G>C (p.Lys1842Asn)
c.5553G>C (p.Lys1851Asn)
c.5556G>C (p.Lys1852Asn)
c.5595G>C (p.Lys1865Asn)
c.5565G>C (p.Lys1855Asn)
n.2387G>C
c.5460G>C (p.Lys1820Asn)
c.5523G>C (p.Lys1841Asn)
c.5463G>C (p.Lys1821Asn)
c.5661G>C (p.Lys1887Asn)
c.5658G>C (p.Lys1886Asn)
 gnomAD v4
2g.71669184G=CA1260152218DYSFc.3033G= (p.Lys1011=)
c.2250G= (p.Lys750=)
c.2358G= (p.Lys786=)
c.5502G= (p.Lys1834=)
c.5619G= (p.Lys1873=)
c.5505G= (p.Lys1835=)
c.5568G= (p.Lys1856=)
c.5616G= (p.Lys1872=)
c.5598G= (p.Lys1866=)
c.5526G= (p.Lys1842=)
c.5553G= (p.Lys1851=)
c.5556G= (p.Lys1852=)
c.5595G= (p.Lys1865=)
c.5565G= (p.Lys1855=)
n.2387G=
c.5460G= (p.Lys1820=)
c.5523G= (p.Lys1841=)
c.5463G= (p.Lys1821=)
c.5661G= (p.Lys1887=)
c.5658G= (p.Lys1886=)
2g.71669184G>TCA347223032DYSFc.3033G>T (p.Lys1011Asn)
c.2250G>T (p.Lys750Asn)
c.2358G>T (p.Lys786Asn)
c.5502G>T (p.Lys1834Asn)
c.5619G>T (p.Lys1873Asn)
c.5505G>T (p.Lys1835Asn)
c.5568G>T (p.Lys1856Asn)
c.5616G>T (p.Lys1872Asn)
c.5598G>T (p.Lys1866Asn)
c.5526G>T (p.Lys1842Asn)
c.5553G>T (p.Lys1851Asn)
c.5556G>T (p.Lys1852Asn)
c.5595G>T (p.Lys1865Asn)
c.5565G>T (p.Lys1855Asn)
n.2387G>T
c.5460G>T (p.Lys1820Asn)
c.5523G>T (p.Lys1841Asn)
c.5463G>T (p.Lys1821Asn)
c.5661G>T (p.Lys1887Asn)
c.5658G>T (p.Lys1886Asn)
2g.71669185A=CA1260152219DYSFc.3034A= (p.Met1012=)
c.2251A= (p.Met751=)
c.2359A= (p.Met787=)
c.5503A= (p.Met1835=)
c.5620A= (p.Met1874=)
c.5506A= (p.Met1836=)
c.5569A= (p.Met1857=)
c.5617A= (p.Met1873=)
c.5599A= (p.Met1867=)
c.5527A= (p.Met1843=)
c.5554A= (p.Met1852=)
c.5557A= (p.Met1853=)
c.5596A= (p.Met1866=)
c.5566A= (p.Met1856=)
n.2388A=
c.5461A= (p.Met1821=)
c.5524A= (p.Met1842=)
c.5464A= (p.Met1822=)
c.5662A= (p.Met1888=)
c.5659A= (p.Met1887=)
2g.71669185A>CCA347223038DYSFc.3034A>C (p.Met1012Leu)
c.2251A>C (p.Met751Leu)
c.2359A>C (p.Met787Leu)
c.5503A>C (p.Met1835Leu)
c.5620A>C (p.Met1874Leu)
c.5506A>C (p.Met1836Leu)
c.5569A>C (p.Met1857Leu)
c.5617A>C (p.Met1873Leu)
c.5599A>C (p.Met1867Leu)
c.5527A>C (p.Met1843Leu)
c.5554A>C (p.Met1852Leu)
c.5557A>C (p.Met1853Leu)
c.5596A>C (p.Met1866Leu)
c.5566A>C (p.Met1856Leu)
n.2388A>C
c.5461A>C (p.Met1821Leu)
c.5524A>C (p.Met1842Leu)
c.5464A>C (p.Met1822Leu)
c.5662A>C (p.Met1888Leu)
c.5659A>C (p.Met1887Leu)
2g.71669185A>GCA347223040DYSFc.3034A>G (p.Met1012Val)
c.2251A>G (p.Met751Val)
c.2359A>G (p.Met787Val)
c.5503A>G (p.Met1835Val)
c.5620A>G (p.Met1874Val)
c.5506A>G (p.Met1836Val)
c.5569A>G (p.Met1857Val)
c.5617A>G (p.Met1873Val)
c.5599A>G (p.Met1867Val)
c.5527A>G (p.Met1843Val)
c.5554A>G (p.Met1852Val)
c.5557A>G (p.Met1853Val)
c.5596A>G (p.Met1866Val)
c.5566A>G (p.Met1856Val)
n.2388A>G
c.5461A>G (p.Met1821Val)
c.5524A>G (p.Met1842Val)
c.5464A>G (p.Met1822Val)
c.5662A>G (p.Met1888Val)
c.5659A>G (p.Met1887Val)
 ClinVar dbSNP
2g.71669185A>TCA347223035DYSFc.3034A>T (p.Met1012Leu)
c.2251A>T (p.Met751Leu)
c.2359A>T (p.Met787Leu)
c.5503A>T (p.Met1835Leu)
c.5620A>T (p.Met1874Leu)
c.5506A>T (p.Met1836Leu)
c.5569A>T (p.Met1857Leu)
c.5617A>T (p.Met1873Leu)
c.5599A>T (p.Met1867Leu)
c.5527A>T (p.Met1843Leu)
c.5554A>T (p.Met1852Leu)
c.5557A>T (p.Met1853Leu)
c.5596A>T (p.Met1866Leu)
c.5566A>T (p.Met1856Leu)
n.2388A>T
c.5461A>T (p.Met1821Leu)
c.5524A>T (p.Met1842Leu)
c.5464A>T (p.Met1822Leu)
c.5662A>T (p.Met1888Leu)
c.5659A>T (p.Met1887Leu)
2g.71669186delCA2580067838DYSFc.3035del (p.Met1012ArgfsTer6)
c.2252del (p.Met751ArgfsTer6)
c.2360del (p.Met787ArgfsTer6)
c.5504del (p.Met1835ArgfsTer6)
c.5621del (p.Met1874ArgfsTer6)
c.5507del (p.Met1836ArgfsTer6)
c.5570del (p.Met1857ArgfsTer6)
c.5618del (p.Met1873ArgfsTer6)
c.5600del (p.Met1867ArgfsTer6)
c.5528del (p.Met1843ArgfsTer6)
c.5555del (p.Met1852ArgfsTer6)
c.5558del (p.Met1853ArgfsTer6)
c.5597del (p.Met1866ArgfsTer6)
c.5567del (p.Met1856ArgfsTer6)
n.2389del
c.5462del (p.Met1821ArgfsTer6)
c.5525del (p.Met1842ArgfsTer6)
c.5465del (p.Met1822ArgfsTer6)
c.5663del (p.Met1888ArgfsTer6)
c.5660del (p.Met1887ArgfsTer6)
 ClinVar dbSNP
2g.71669186T>ACA347223043DYSFc.3035T>A (p.Met1012Lys)
c.2252T>A (p.Met751Lys)
c.2360T>A (p.Met787Lys)
c.5504T>A (p.Met1835Lys)
c.5621T>A (p.Met1874Lys)
c.5507T>A (p.Met1836Lys)
c.5570T>A (p.Met1857Lys)
c.5618T>A (p.Met1873Lys)
c.5600T>A (p.Met1867Lys)
c.5528T>A (p.Met1843Lys)
c.5555T>A (p.Met1852Lys)
c.5558T>A (p.Met1853Lys)
c.5597T>A (p.Met1866Lys)
c.5567T>A (p.Met1856Lys)
n.2389T>A
c.5462T>A (p.Met1821Lys)
c.5525T>A (p.Met1842Lys)
c.5465T>A (p.Met1822Lys)
c.5663T>A (p.Met1888Lys)
c.5660T>A (p.Met1887Lys)
2g.71669186T>CCA347223047DYSFc.3035T>C (p.Met1012Thr)
c.2252T>C (p.Met751Thr)
c.2360T>C (p.Met787Thr)
c.5504T>C (p.Met1835Thr)
c.5621T>C (p.Met1874Thr)
c.5507T>C (p.Met1836Thr)
c.5570T>C (p.Met1857Thr)
c.5618T>C (p.Met1873Thr)
c.5600T>C (p.Met1867Thr)
c.5528T>C (p.Met1843Thr)
c.5555T>C (p.Met1852Thr)
c.5558T>C (p.Met1853Thr)
c.5597T>C (p.Met1866Thr)
c.5567T>C (p.Met1856Thr)
n.2389T>C
c.5462T>C (p.Met1821Thr)
c.5525T>C (p.Met1842Thr)
c.5465T>C (p.Met1822Thr)
c.5663T>C (p.Met1888Thr)
c.5660T>C (p.Met1887Thr)
2g.71669186T>GCA347223045DYSFc.3035T>G (p.Met1012Arg)
c.2252T>G (p.Met751Arg)
c.2360T>G (p.Met787Arg)
c.5504T>G (p.Met1835Arg)
c.5621T>G (p.Met1874Arg)
c.5507T>G (p.Met1836Arg)
c.5570T>G (p.Met1857Arg)
c.5618T>G (p.Met1873Arg)
c.5600T>G (p.Met1867Arg)
c.5528T>G (p.Met1843Arg)
c.5555T>G (p.Met1852Arg)
c.5558T>G (p.Met1853Arg)
c.5597T>G (p.Met1866Arg)
c.5567T>G (p.Met1856Arg)
n.2389T>G
c.5462T>G (p.Met1821Arg)
c.5525T>G (p.Met1842Arg)
c.5465T>G (p.Met1822Arg)
c.5663T>G (p.Met1888Arg)
c.5660T>G (p.Met1887Arg)
2g.71669187G>ACA347223051DYSFc.3036G>A (p.Met1012Ile)
c.2253G>A (p.Met751Ile)
c.2361G>A (p.Met787Ile)
c.5505G>A (p.Met1835Ile)
c.5622G>A (p.Met1874Ile)
c.5508G>A (p.Met1836Ile)
c.5571G>A (p.Met1857Ile)
c.5619G>A (p.Met1873Ile)
c.5601G>A (p.Met1867Ile)
c.5529G>A (p.Met1843Ile)
c.5556G>A (p.Met1852Ile)
c.5559G>A (p.Met1853Ile)
c.5598G>A (p.Met1866Ile)
c.5568G>A (p.Met1856Ile)
n.2390G>A
c.5463G>A (p.Met1821Ile)
c.5526G>A (p.Met1842Ile)
c.5466G>A (p.Met1822Ile)
c.5664G>A (p.Met1888Ile)
c.5661G>A (p.Met1887Ile)
 gnomAD v4
2g.71669187G>CCA347223053DYSFc.3036G>C (p.Met1012Ile)
c.2253G>C (p.Met751Ile)
c.2361G>C (p.Met787Ile)
c.5505G>C (p.Met1835Ile)
c.5622G>C (p.Met1874Ile)
c.5508G>C (p.Met1836Ile)
c.5571G>C (p.Met1857Ile)
c.5619G>C (p.Met1873Ile)
c.5601G>C (p.Met1867Ile)
c.5529G>C (p.Met1843Ile)
c.5556G>C (p.Met1852Ile)
c.5559G>C (p.Met1853Ile)
c.5598G>C (p.Met1866Ile)
c.5568G>C (p.Met1856Ile)
n.2390G>C
c.5463G>C (p.Met1821Ile)
c.5526G>C (p.Met1842Ile)
c.5466G>C (p.Met1822Ile)
c.5664G>C (p.Met1888Ile)
c.5661G>C (p.Met1887Ile)
2g.71669187G>TCA347223055DYSFc.3036G>T (p.Met1012Ile)
c.2253G>T (p.Met751Ile)
c.2361G>T (p.Met787Ile)
c.5505G>T (p.Met1835Ile)
c.5622G>T (p.Met1874Ile)
c.5508G>T (p.Met1836Ile)
c.5571G>T (p.Met1857Ile)
c.5619G>T (p.Met1873Ile)
c.5601G>T (p.Met1867Ile)
c.5529G>T (p.Met1843Ile)
c.5556G>T (p.Met1852Ile)
c.5559G>T (p.Met1853Ile)
c.5598G>T (p.Met1866Ile)
c.5568G>T (p.Met1856Ile)
n.2390G>T
c.5463G>T (p.Met1821Ile)
c.5526G>T (p.Met1842Ile)
c.5466G>T (p.Met1822Ile)
c.5664G>T (p.Met1888Ile)
c.5661G>T (p.Met1887Ile)
2g.71669188A>CCA347223058DYSFc.3037A>C (p.Ser1013Arg)
c.2254A>C (p.Ser752Arg)
c.2362A>C (p.Ser788Arg)
c.5506A>C (p.Ser1836Arg)
c.5623A>C (p.Ser1875Arg)
c.5509A>C (p.Ser1837Arg)
c.5572A>C (p.Ser1858Arg)
c.5620A>C (p.Ser1874Arg)
c.5602A>C (p.Ser1868Arg)
c.5530A>C (p.Ser1844Arg)
c.5557A>C (p.Ser1853Arg)
c.5560A>C (p.Ser1854Arg)
c.5599A>C (p.Ser1867Arg)
c.5569A>C (p.Ser1857Arg)
n.2391A>C
c.5464A>C (p.Ser1822Arg)
c.5527A>C (p.Ser1843Arg)
c.5467A>C (p.Ser1823Arg)
c.5665A>C (p.Ser1889Arg)
c.5662A>C (p.Ser1888Arg)
2g.71669188A>GCA347223059DYSFc.3037A>G (p.Ser1013Gly)
c.2254A>G (p.Ser752Gly)
c.2362A>G (p.Ser788Gly)
c.5506A>G (p.Ser1836Gly)
c.5623A>G (p.Ser1875Gly)
c.5509A>G (p.Ser1837Gly)
c.5572A>G (p.Ser1858Gly)
c.5620A>G (p.Ser1874Gly)
c.5602A>G (p.Ser1868Gly)
c.5530A>G (p.Ser1844Gly)
c.5557A>G (p.Ser1853Gly)
c.5560A>G (p.Ser1854Gly)
c.5599A>G (p.Ser1867Gly)
c.5569A>G (p.Ser1857Gly)
n.2391A>G
c.5464A>G (p.Ser1822Gly)
c.5527A>G (p.Ser1843Gly)
c.5467A>G (p.Ser1823Gly)
c.5665A>G (p.Ser1889Gly)
c.5662A>G (p.Ser1888Gly)
 gnomAD v4
2g.71669188A>TCA347223060DYSFc.3037A>T (p.Ser1013Cys)
c.2254A>T (p.Ser752Cys)
c.2362A>T (p.Ser788Cys)
c.5506A>T (p.Ser1836Cys)
c.5623A>T (p.Ser1875Cys)
c.5509A>T (p.Ser1837Cys)
c.5572A>T (p.Ser1858Cys)
c.5620A>T (p.Ser1874Cys)
c.5602A>T (p.Ser1868Cys)
c.5530A>T (p.Ser1844Cys)
c.5557A>T (p.Ser1853Cys)
c.5560A>T (p.Ser1854Cys)
c.5599A>T (p.Ser1867Cys)
c.5569A>T (p.Ser1857Cys)
n.2391A>T
c.5464A>T (p.Ser1822Cys)
c.5527A>T (p.Ser1843Cys)
c.5467A>T (p.Ser1823Cys)
c.5665A>T (p.Ser1889Cys)
c.5662A>T (p.Ser1888Cys)
2g.71669189G>ACA347223063DYSFc.3038G>A (p.Ser1013Asn)
c.2255G>A (p.Ser752Asn)
c.2363G>A (p.Ser788Asn)
c.5507G>A (p.Ser1836Asn)
c.5624G>A (p.Ser1875Asn)
c.5510G>A (p.Ser1837Asn)
c.5573G>A (p.Ser1858Asn)
c.5621G>A (p.Ser1874Asn)
c.5603G>A (p.Ser1868Asn)
c.5531G>A (p.Ser1844Asn)
c.5558G>A (p.Ser1853Asn)
c.5561G>A (p.Ser1854Asn)
c.5600G>A (p.Ser1867Asn)
c.5570G>A (p.Ser1857Asn)
n.2392G>A
c.5465G>A (p.Ser1822Asn)
c.5528G>A (p.Ser1843Asn)
c.5468G>A (p.Ser1823Asn)
c.5666G>A (p.Ser1889Asn)
c.5663G>A (p.Ser1888Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71669189G>CCA347223065DYSFc.3038G>C (p.Ser1013Thr)
c.2255G>C (p.Ser752Thr)
c.2363G>C (p.Ser788Thr)
c.5507G>C (p.Ser1836Thr)
c.5624G>C (p.Ser1875Thr)
c.5510G>C (p.Ser1837Thr)
c.5573G>C (p.Ser1858Thr)
c.5621G>C (p.Ser1874Thr)
c.5603G>C (p.Ser1868Thr)
c.5531G>C (p.Ser1844Thr)
c.5558G>C (p.Ser1853Thr)
c.5561G>C (p.Ser1854Thr)
c.5600G>C (p.Ser1867Thr)
c.5570G>C (p.Ser1857Thr)
n.2392G>C
c.5465G>C (p.Ser1822Thr)
c.5528G>C (p.Ser1843Thr)
c.5468G>C (p.Ser1823Thr)
c.5666G>C (p.Ser1889Thr)
c.5663G>C (p.Ser1888Thr)
2g.71669189G=CA1260152220DYSFc.3038G= (p.Ser1013=)
c.2255G= (p.Ser752=)
c.2363G= (p.Ser788=)
c.5507G= (p.Ser1836=)
c.5624G= (p.Ser1875=)
c.5510G= (p.Ser1837=)
c.5573G= (p.Ser1858=)
c.5621G= (p.Ser1874=)
c.5603G= (p.Ser1868=)
c.5531G= (p.Ser1844=)
c.5558G= (p.Ser1853=)
c.5561G= (p.Ser1854=)
c.5600G= (p.Ser1867=)
c.5570G= (p.Ser1857=)
n.2392G=
c.5465G= (p.Ser1822=)
c.5528G= (p.Ser1843=)
c.5468G= (p.Ser1823=)
c.5666G= (p.Ser1889=)
c.5663G= (p.Ser1888=)
2g.71669189G>TCA347223067DYSFc.3038G>T (p.Ser1013Ile)
c.2255G>T (p.Ser752Ile)
c.2363G>T (p.Ser788Ile)
c.5507G>T (p.Ser1836Ile)
c.5624G>T (p.Ser1875Ile)
c.5510G>T (p.Ser1837Ile)
c.5573G>T (p.Ser1858Ile)
c.5621G>T (p.Ser1874Ile)
c.5603G>T (p.Ser1868Ile)
c.5531G>T (p.Ser1844Ile)
c.5558G>T (p.Ser1853Ile)
c.5561G>T (p.Ser1854Ile)
c.5600G>T (p.Ser1867Ile)
c.5570G>T (p.Ser1857Ile)
n.2392G>T
c.5465G>T (p.Ser1822Ile)
c.5528G>T (p.Ser1843Ile)
c.5468G>T (p.Ser1823Ile)
c.5666G>T (p.Ser1889Ile)
c.5663G>T (p.Ser1888Ile)
2g.71669190C>ACA347223070DYSFc.3039C>A (p.Ser1013Arg)
c.2256C>A (p.Ser752Arg)
c.2364C>A (p.Ser788Arg)
c.5508C>A (p.Ser1836Arg)
c.5625C>A (p.Ser1875Arg)
c.5511C>A (p.Ser1837Arg)
c.5574C>A (p.Ser1858Arg)
c.5622C>A (p.Ser1874Arg)
c.5604C>A (p.Ser1868Arg)
c.5532C>A (p.Ser1844Arg)
c.5559C>A (p.Ser1853Arg)
c.5562C>A (p.Ser1854Arg)
c.5601C>A (p.Ser1867Arg)
c.5571C>A (p.Ser1857Arg)
n.2393C>A
c.5466C>A (p.Ser1822Arg)
c.5529C>A (p.Ser1843Arg)
c.5469C>A (p.Ser1823Arg)
c.5667C>A (p.Ser1889Arg)
c.5664C>A (p.Ser1888Arg)
2g.71669190C=CA1260152221DYSFc.3039C= (p.Ser1013=)
c.2256C= (p.Ser752=)
c.2364C= (p.Ser788=)
c.5508C= (p.Ser1836=)
c.5625C= (p.Ser1875=)
c.5511C= (p.Ser1837=)
c.5574C= (p.Ser1858=)
c.5622C= (p.Ser1874=)
c.5604C= (p.Ser1868=)
c.5532C= (p.Ser1844=)
c.5559C= (p.Ser1853=)
c.5562C= (p.Ser1854=)
c.5601C= (p.Ser1867=)
c.5571C= (p.Ser1857=)
n.2393C=
c.5466C= (p.Ser1822=)
c.5529C= (p.Ser1843=)
c.5469C= (p.Ser1823=)
c.5667C= (p.Ser1889=)
c.5664C= (p.Ser1888=)
2g.71669190C>GCA347223072DYSFc.3039C>G (p.Ser1013Arg)
c.2256C>G (p.Ser752Arg)
c.2364C>G (p.Ser788Arg)
c.5508C>G (p.Ser1836Arg)
c.5625C>G (p.Ser1875Arg)
c.5511C>G (p.Ser1837Arg)
c.5574C>G (p.Ser1858Arg)
c.5622C>G (p.Ser1874Arg)
c.5604C>G (p.Ser1868Arg)
c.5532C>G (p.Ser1844Arg)
c.5559C>G (p.Ser1853Arg)
c.5562C>G (p.Ser1854Arg)
c.5601C>G (p.Ser1867Arg)
c.5571C>G (p.Ser1857Arg)
n.2393C>G
c.5466C>G (p.Ser1822Arg)
c.5529C>G (p.Ser1843Arg)
c.5469C>G (p.Ser1823Arg)
c.5667C>G (p.Ser1889Arg)
c.5664C>G (p.Ser1888Arg)
2g.71669190C>TCA1707450DYSFc.3039C>T (p.Ser1013=)
c.2256C>T (p.Ser752=)
c.2364C>T (p.Ser788=)
c.5508C>T (p.Ser1836=)
c.5625C>T (p.Ser1875=)
c.5511C>T (p.Ser1837=)
c.5574C>T (p.Ser1858=)
c.5622C>T (p.Ser1874=)
c.5604C>T (p.Ser1868=)
c.5532C>T (p.Ser1844=)
c.5559C>T (p.Ser1853=)
c.5562C>T (p.Ser1854=)
c.5601C>T (p.Ser1867=)
c.5571C>T (p.Ser1857=)
n.2393C>T
c.5466C>T (p.Ser1822=)
c.5529C>T (p.Ser1843=)
c.5469C>T (p.Ser1823=)
c.5667C>T (p.Ser1889=)
c.5664C>T (p.Ser1888=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669191G>ACA222190DYSFc.3040G>A (p.Asp1014Asn)
c.2257G>A (p.Asp753Asn)
c.2365G>A (p.Asp789Asn)
c.5509G>A (p.Asp1837Asn)
c.5626G>A (p.Asp1876Asn)
c.5512G>A (p.Asp1838Asn)
c.5575G>A (p.Asp1859Asn)
c.5623G>A (p.Asp1875Asn)
c.5605G>A (p.Asp1869Asn)
c.5533G>A (p.Asp1845Asn)
c.5560G>A (p.Asp1854Asn)
c.5563G>A (p.Asp1855Asn)
c.5602G>A (p.Asp1868Asn)
c.5572G>A (p.Asp1858Asn)
n.2394G>A
c.5467G>A (p.Asp1823Asn)
c.5530G>A (p.Asp1844Asn)
c.5470G>A (p.Asp1824Asn)
c.5668G>A (p.Asp1890Asn)
c.5665G>A (p.Asp1889Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71669191G>CCA347223076DYSFc.3040G>C (p.Asp1014His)
c.2257G>C (p.Asp753His)
c.2365G>C (p.Asp789His)
c.5509G>C (p.Asp1837His)
c.5626G>C (p.Asp1876His)
c.5512G>C (p.Asp1838His)
c.5575G>C (p.Asp1859His)
c.5623G>C (p.Asp1875His)
c.5605G>C (p.Asp1869His)
c.5533G>C (p.Asp1845His)
c.5560G>C (p.Asp1854His)
c.5563G>C (p.Asp1855His)
c.5602G>C (p.Asp1868His)
c.5572G>C (p.Asp1858His)
n.2394G>C
c.5467G>C (p.Asp1823His)
c.5530G>C (p.Asp1844His)
c.5470G>C (p.Asp1824His)
c.5668G>C (p.Asp1890His)
c.5665G>C (p.Asp1889His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71669191G=CA1260152222DYSFc.3040G= (p.Asp1014=)
c.2257G= (p.Asp753=)
c.2365G= (p.Asp789=)
c.5509G= (p.Asp1837=)
c.5626G= (p.Asp1876=)
c.5512G= (p.Asp1838=)
c.5575G= (p.Asp1859=)
c.5623G= (p.Asp1875=)
c.5605G= (p.Asp1869=)
c.5533G= (p.Asp1845=)
c.5560G= (p.Asp1854=)
c.5563G= (p.Asp1855=)
c.5602G= (p.Asp1868=)
c.5572G= (p.Asp1858=)
n.2394G=
c.5467G= (p.Asp1823=)
c.5530G= (p.Asp1844=)
c.5470G= (p.Asp1824=)
c.5668G= (p.Asp1890=)
c.5665G= (p.Asp1889=)
2g.71669191G>TCA347223079DYSFc.3040G>T (p.Asp1014Tyr)
c.2257G>T (p.Asp753Tyr)
c.2365G>T (p.Asp789Tyr)
c.5509G>T (p.Asp1837Tyr)
c.5626G>T (p.Asp1876Tyr)
c.5512G>T (p.Asp1838Tyr)
c.5575G>T (p.Asp1859Tyr)
c.5623G>T (p.Asp1875Tyr)
c.5605G>T (p.Asp1869Tyr)
c.5533G>T (p.Asp1845Tyr)
c.5560G>T (p.Asp1854Tyr)
c.5563G>T (p.Asp1855Tyr)
c.5602G>T (p.Asp1868Tyr)
c.5572G>T (p.Asp1858Tyr)
n.2394G>T
c.5467G>T (p.Asp1823Tyr)
c.5530G>T (p.Asp1844Tyr)
c.5470G>T (p.Asp1824Tyr)
c.5668G>T (p.Asp1890Tyr)
c.5665G>T (p.Asp1889Tyr)

Number of alleles fetched