Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71669723C>ACA347224075DYSFc.3175C>A (p.Gln1059Lys)
c.2392C>A (p.Gln798Lys)
c.2500C>A (p.Gln834Lys)
c.5644C>A (p.Gln1882Lys)
c.5761C>A (p.Gln1921Lys)
c.5647C>A (p.Gln1883Lys)
c.5710C>A (p.Gln1904Lys)
c.5758C>A (p.Gln1920Lys)
c.5740C>A (p.Gln1914Lys)
c.5668C>A (p.Gln1890Lys)
c.5695C>A (p.Gln1899Lys)
c.5698C>A (p.Gln1900Lys)
c.5737C>A (p.Gln1913Lys)
c.5707C>A (p.Gln1903Lys)
n.2529C>A
c.5602C>A (p.Gln1868Lys)
c.5665C>A (p.Gln1889Lys)
c.5605C>A (p.Gln1869Lys)
c.5803C>A (p.Gln1935Lys)
c.5800C>A (p.Gln1934Lys)
2g.71669723C=CA1260152488DYSFc.3175C= (p.Gln1059=)
c.2392C= (p.Gln798=)
c.2500C= (p.Gln834=)
c.5644C= (p.Gln1882=)
c.5761C= (p.Gln1921=)
c.5647C= (p.Gln1883=)
c.5710C= (p.Gln1904=)
c.5758C= (p.Gln1920=)
c.5740C= (p.Gln1914=)
c.5668C= (p.Gln1890=)
c.5695C= (p.Gln1899=)
c.5698C= (p.Gln1900=)
c.5737C= (p.Gln1913=)
c.5707C= (p.Gln1903=)
n.2529C=
c.5602C= (p.Gln1868=)
c.5665C= (p.Gln1889=)
c.5605C= (p.Gln1869=)
c.5803C= (p.Gln1935=)
c.5800C= (p.Gln1934=)
2g.71669723C>GCA347224078DYSFc.3175C>G (p.Gln1059Glu)
c.2392C>G (p.Gln798Glu)
c.2500C>G (p.Gln834Glu)
c.5644C>G (p.Gln1882Glu)
c.5761C>G (p.Gln1921Glu)
c.5647C>G (p.Gln1883Glu)
c.5710C>G (p.Gln1904Glu)
c.5758C>G (p.Gln1920Glu)
c.5740C>G (p.Gln1914Glu)
c.5668C>G (p.Gln1890Glu)
c.5695C>G (p.Gln1899Glu)
c.5698C>G (p.Gln1900Glu)
c.5737C>G (p.Gln1913Glu)
c.5707C>G (p.Gln1903Glu)
n.2529C>G
c.5602C>G (p.Gln1868Glu)
c.5665C>G (p.Gln1889Glu)
c.5605C>G (p.Gln1869Glu)
c.5803C>G (p.Gln1935Glu)
c.5800C>G (p.Gln1934Glu)
2g.71669723C>TCA222193DYSFc.3175C>T (p.Gln1059Ter)
c.2392C>T (p.Gln798Ter)
c.2500C>T (p.Gln834Ter)
c.5644C>T (p.Gln1882Ter)
c.5761C>T (p.Gln1921Ter)
c.5647C>T (p.Gln1883Ter)
c.5710C>T (p.Gln1904Ter)
c.5758C>T (p.Gln1920Ter)
c.5740C>T (p.Gln1914Ter)
c.5668C>T (p.Gln1890Ter)
c.5695C>T (p.Gln1899Ter)
c.5698C>T (p.Gln1900Ter)
c.5737C>T (p.Gln1913Ter)
c.5707C>T (p.Gln1903Ter)
n.2529C>T
c.5602C>T (p.Gln1868Ter)
c.5665C>T (p.Gln1889Ter)
c.5605C>T (p.Gln1869Ter)
c.5803C>T (p.Gln1935Ter)
c.5800C>T (p.Gln1934Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71669723_71669724delinsCACA1260152489DYSFc.3175_3176delinsCA (p.Gln1059=)
c.2392_2393delinsCA (p.Gln798=)
c.2500_2501delinsCA (p.Gln834=)
c.5644_5645delinsCA (p.Gln1882=)
c.5761_5762delinsCA (p.Gln1921=)
c.5647_5648delinsCA (p.Gln1883=)
c.5710_5711delinsCA (p.Gln1904=)
c.5758_5759delinsCA (p.Gln1920=)
c.5740_5741delinsCA (p.Gln1914=)
c.5668_5669delinsCA (p.Gln1890=)
c.5695_5696delinsCA (p.Gln1899=)
c.5698_5699delinsCA (p.Gln1900=)
c.5737_5738delinsCA (p.Gln1913=)
c.5707_5708delinsCA (p.Gln1903=)
n.2529_2530delinsCA
c.5602_5603delinsCA (p.Gln1868=)
c.5665_5666delinsCA (p.Gln1889=)
c.5605_5606delinsCA (p.Gln1869=)
c.5803_5804delinsCA (p.Gln1935=)
c.5800_5801delinsCA (p.Gln1934=)
2g.71669724A>CCA347224087DYSFc.3176A>C (p.Gln1059Pro)
c.2393A>C (p.Gln798Pro)
c.2501A>C (p.Gln834Pro)
c.5645A>C (p.Gln1882Pro)
c.5762A>C (p.Gln1921Pro)
c.5648A>C (p.Gln1883Pro)
c.5711A>C (p.Gln1904Pro)
c.5759A>C (p.Gln1920Pro)
c.5741A>C (p.Gln1914Pro)
c.5669A>C (p.Gln1890Pro)
c.5696A>C (p.Gln1899Pro)
c.5699A>C (p.Gln1900Pro)
c.5738A>C (p.Gln1913Pro)
c.5708A>C (p.Gln1903Pro)
n.2530A>C
c.5603A>C (p.Gln1868Pro)
c.5666A>C (p.Gln1889Pro)
c.5606A>C (p.Gln1869Pro)
c.5804A>C (p.Gln1935Pro)
c.5801A>C (p.Gln1934Pro)
2g.71669724A>GCA347224090DYSFc.3176A>G (p.Gln1059Arg)
c.2393A>G (p.Gln798Arg)
c.2501A>G (p.Gln834Arg)
c.5645A>G (p.Gln1882Arg)
c.5762A>G (p.Gln1921Arg)
c.5648A>G (p.Gln1883Arg)
c.5711A>G (p.Gln1904Arg)
c.5759A>G (p.Gln1920Arg)
c.5741A>G (p.Gln1914Arg)
c.5669A>G (p.Gln1890Arg)
c.5696A>G (p.Gln1899Arg)
c.5699A>G (p.Gln1900Arg)
c.5738A>G (p.Gln1913Arg)
c.5708A>G (p.Gln1903Arg)
n.2530A>G
c.5603A>G (p.Gln1868Arg)
c.5666A>G (p.Gln1889Arg)
c.5606A>G (p.Gln1869Arg)
c.5804A>G (p.Gln1935Arg)
c.5801A>G (p.Gln1934Arg)
2g.71669724A>TCA347224084DYSFc.3176A>T (p.Gln1059Leu)
c.2393A>T (p.Gln798Leu)
c.2501A>T (p.Gln834Leu)
c.5645A>T (p.Gln1882Leu)
c.5762A>T (p.Gln1921Leu)
c.5648A>T (p.Gln1883Leu)
c.5711A>T (p.Gln1904Leu)
c.5759A>T (p.Gln1920Leu)
c.5741A>T (p.Gln1914Leu)
c.5669A>T (p.Gln1890Leu)
c.5696A>T (p.Gln1899Leu)
c.5699A>T (p.Gln1900Leu)
c.5738A>T (p.Gln1913Leu)
c.5708A>T (p.Gln1903Leu)
n.2530A>T
c.5603A>T (p.Gln1868Leu)
c.5666A>T (p.Gln1889Leu)
c.5606A>T (p.Gln1869Leu)
c.5804A>T (p.Gln1935Leu)
c.5801A>T (p.Gln1934Leu)
2g.71669725delCA658795803DYSFc.3177del (p.Val1060SerfsTer?)
c.2394del (p.Val799SerfsTer?)
c.2502del (p.Val835SerfsTer?)
c.5646del (p.Val1883SerfsTer?)
c.5763del (p.Val1922SerfsTer?)
c.5649del (p.Val1884SerfsTer?)
c.5712del (p.Val1905SerfsTer?)
c.5760del (p.Val1921SerfsTer?)
c.5742del (p.Val1915SerfsTer?)
c.5670del (p.Val1891SerfsTer?)
c.5697del (p.Val1900SerfsTer?)
c.5700del (p.Val1901SerfsTer?)
c.5739del (p.Val1914SerfsTer?)
c.5709del (p.Val1904SerfsTer?)
n.2531del
c.5604del (p.Val1869SerfsTer?)
c.5667del (p.Val1890SerfsTer?)
c.5607del (p.Val1870SerfsTer?)
c.5805del (p.Val1936SerfsTer?)
c.5802del (p.Val1935SerfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71669725A>CCA347224094DYSFc.3177A>C (p.Gln1059His)
c.2394A>C (p.Gln798His)
c.2502A>C (p.Gln834His)
c.5646A>C (p.Gln1882His)
c.5763A>C (p.Gln1921His)
c.5649A>C (p.Gln1883His)
c.5712A>C (p.Gln1904His)
c.5760A>C (p.Gln1920His)
c.5742A>C (p.Gln1914His)
c.5670A>C (p.Gln1890His)
c.5697A>C (p.Gln1899His)
c.5700A>C (p.Gln1900His)
c.5739A>C (p.Gln1913His)
c.5709A>C (p.Gln1903His)
n.2531A>C
c.5604A>C (p.Gln1868His)
c.5667A>C (p.Gln1889His)
c.5607A>C (p.Gln1869His)
c.5805A>C (p.Gln1935His)
c.5802A>C (p.Gln1934His)
2g.71669725A>GCA426704529DYSFc.3177A>G (p.Gln1059=)
c.2394A>G (p.Gln798=)
c.2502A>G (p.Gln834=)
c.5646A>G (p.Gln1882=)
c.5763A>G (p.Gln1921=)
c.5649A>G (p.Gln1883=)
c.5712A>G (p.Gln1904=)
c.5760A>G (p.Gln1920=)
c.5742A>G (p.Gln1914=)
c.5670A>G (p.Gln1890=)
c.5697A>G (p.Gln1899=)
c.5700A>G (p.Gln1900=)
c.5739A>G (p.Gln1913=)
c.5709A>G (p.Gln1903=)
n.2531A>G
c.5604A>G (p.Gln1868=)
c.5667A>G (p.Gln1889=)
c.5607A>G (p.Gln1869=)
c.5805A>G (p.Gln1935=)
c.5802A>G (p.Gln1934=)
2g.71669725A>TCA347224095DYSFc.3177A>T (p.Gln1059His)
c.2394A>T (p.Gln798His)
c.2502A>T (p.Gln834His)
c.5646A>T (p.Gln1882His)
c.5763A>T (p.Gln1921His)
c.5649A>T (p.Gln1883His)
c.5712A>T (p.Gln1904His)
c.5760A>T (p.Gln1920His)
c.5742A>T (p.Gln1914His)
c.5670A>T (p.Gln1890His)
c.5697A>T (p.Gln1899His)
c.5700A>T (p.Gln1900His)
c.5739A>T (p.Gln1913His)
c.5709A>T (p.Gln1903His)
n.2531A>T
c.5604A>T (p.Gln1868His)
c.5667A>T (p.Gln1889His)
c.5607A>T (p.Gln1869His)
c.5805A>T (p.Gln1935His)
c.5802A>T (p.Gln1934His)
 COSMIC COSMIC
2g.71669726G>ACA347224096DYSFc.3178G>A (p.Val1060Ile)
c.2395G>A (p.Val799Ile)
c.2503G>A (p.Val835Ile)
c.5647G>A (p.Val1883Ile)
c.5764G>A (p.Val1922Ile)
c.5650G>A (p.Val1884Ile)
c.5713G>A (p.Val1905Ile)
c.5761G>A (p.Val1921Ile)
c.5743G>A (p.Val1915Ile)
c.5671G>A (p.Val1891Ile)
c.5698G>A (p.Val1900Ile)
c.5701G>A (p.Val1901Ile)
c.5740G>A (p.Val1914Ile)
c.5710G>A (p.Val1904Ile)
n.2532G>A
c.5605G>A (p.Val1869Ile)
c.5668G>A (p.Val1890Ile)
c.5608G>A (p.Val1870Ile)
c.5806G>A (p.Val1936Ile)
c.5803G>A (p.Val1935Ile)
 gnomAD v4
2g.71669726G>CCA347224099DYSFc.3178G>C (p.Val1060Leu)
c.2395G>C (p.Val799Leu)
c.2503G>C (p.Val835Leu)
c.5647G>C (p.Val1883Leu)
c.5764G>C (p.Val1922Leu)
c.5650G>C (p.Val1884Leu)
c.5713G>C (p.Val1905Leu)
c.5761G>C (p.Val1921Leu)
c.5743G>C (p.Val1915Leu)
c.5671G>C (p.Val1891Leu)
c.5698G>C (p.Val1900Leu)
c.5701G>C (p.Val1901Leu)
c.5740G>C (p.Val1914Leu)
c.5710G>C (p.Val1904Leu)
n.2532G>C
c.5605G>C (p.Val1869Leu)
c.5668G>C (p.Val1890Leu)
c.5608G>C (p.Val1870Leu)
c.5806G>C (p.Val1936Leu)
c.5803G>C (p.Val1935Leu)
2g.71669726G>TCA347224101DYSFc.3178G>T (p.Val1060Phe)
c.2395G>T (p.Val799Phe)
c.2503G>T (p.Val835Phe)
c.5647G>T (p.Val1883Phe)
c.5764G>T (p.Val1922Phe)
c.5650G>T (p.Val1884Phe)
c.5713G>T (p.Val1905Phe)
c.5761G>T (p.Val1921Phe)
c.5743G>T (p.Val1915Phe)
c.5671G>T (p.Val1891Phe)
c.5698G>T (p.Val1900Phe)
c.5701G>T (p.Val1901Phe)
c.5740G>T (p.Val1914Phe)
c.5710G>T (p.Val1904Phe)
n.2532G>T
c.5605G>T (p.Val1869Phe)
c.5668G>T (p.Val1890Phe)
c.5608G>T (p.Val1870Phe)
c.5806G>T (p.Val1936Phe)
c.5803G>T (p.Val1935Phe)
2g.71669726_71669728delinsGTCCA1260152490DYSFc.3178_3180delinsGTC (p.Val1060=)
c.2395_2397delinsGTC (p.Val799=)
c.2503_2505delinsGTC (p.Val835=)
c.5647_5649delinsGTC (p.Val1883=)
c.5764_5766delinsGTC (p.Val1922=)
c.5650_5652delinsGTC (p.Val1884=)
c.5713_5715delinsGTC (p.Val1905=)
c.5761_5763delinsGTC (p.Val1921=)
c.5743_5745delinsGTC (p.Val1915=)
c.5671_5673delinsGTC (p.Val1891=)
c.5698_5700delinsGTC (p.Val1900=)
c.5701_5703delinsGTC (p.Val1901=)
c.5740_5742delinsGTC (p.Val1914=)
c.5710_5712delinsGTC (p.Val1904=)
n.2532_2534delinsGTC
c.5605_5607delinsGTC (p.Val1869=)
c.5668_5670delinsGTC (p.Val1890=)
c.5608_5610delinsGTC (p.Val1870=)
c.5806_5808delinsGTC (p.Val1936=)
c.5803_5805delinsGTC (p.Val1935=)
2g.71669727T>ACA347224106DYSFc.3179T>A (p.Val1060Asp)
c.2396T>A (p.Val799Asp)
c.2504T>A (p.Val835Asp)
c.5648T>A (p.Val1883Asp)
c.5765T>A (p.Val1922Asp)
c.5651T>A (p.Val1884Asp)
c.5714T>A (p.Val1905Asp)
c.5762T>A (p.Val1921Asp)
c.5744T>A (p.Val1915Asp)
c.5672T>A (p.Val1891Asp)
c.5699T>A (p.Val1900Asp)
c.5702T>A (p.Val1901Asp)
c.5741T>A (p.Val1914Asp)
c.5711T>A (p.Val1904Asp)
n.2533T>A
c.5606T>A (p.Val1869Asp)
c.5669T>A (p.Val1890Asp)
c.5609T>A (p.Val1870Asp)
c.5807T>A (p.Val1936Asp)
c.5804T>A (p.Val1935Asp)
2g.71669727T>CCA347224108DYSFc.3179T>C (p.Val1060Ala)
c.2396T>C (p.Val799Ala)
c.2504T>C (p.Val835Ala)
c.5648T>C (p.Val1883Ala)
c.5765T>C (p.Val1922Ala)
c.5651T>C (p.Val1884Ala)
c.5714T>C (p.Val1905Ala)
c.5762T>C (p.Val1921Ala)
c.5744T>C (p.Val1915Ala)
c.5672T>C (p.Val1891Ala)
c.5699T>C (p.Val1900Ala)
c.5702T>C (p.Val1901Ala)
c.5741T>C (p.Val1914Ala)
c.5711T>C (p.Val1904Ala)
n.2533T>C
c.5606T>C (p.Val1869Ala)
c.5669T>C (p.Val1890Ala)
c.5609T>C (p.Val1870Ala)
c.5807T>C (p.Val1936Ala)
c.5804T>C (p.Val1935Ala)
2g.71669727T>GCA347224110DYSFc.3179T>G (p.Val1060Gly)
c.2396T>G (p.Val799Gly)
c.2504T>G (p.Val835Gly)
c.5648T>G (p.Val1883Gly)
c.5765T>G (p.Val1922Gly)
c.5651T>G (p.Val1884Gly)
c.5714T>G (p.Val1905Gly)
c.5762T>G (p.Val1921Gly)
c.5744T>G (p.Val1915Gly)
c.5672T>G (p.Val1891Gly)
c.5699T>G (p.Val1900Gly)
c.5702T>G (p.Val1901Gly)
c.5741T>G (p.Val1914Gly)
c.5711T>G (p.Val1904Gly)
n.2533T>G
c.5606T>G (p.Val1869Gly)
c.5669T>G (p.Val1890Gly)
c.5609T>G (p.Val1870Gly)
c.5807T>G (p.Val1936Gly)
c.5804T>G (p.Val1935Gly)
2g.71669728_71669729delCA1260152491DYSFc.3180_3181del (p.Cys1061TyrfsTer15)
c.2397_2398del (p.Cys800TyrfsTer15)
c.2505_2506del (p.Cys836TyrfsTer15)
c.5649_5650del (p.Cys1884TyrfsTer15)
c.5766_5767del (p.Cys1923TyrfsTer15)
c.5652_5653del (p.Cys1885TyrfsTer15)
c.5715_5716del (p.Cys1906TyrfsTer15)
c.5763_5764del (p.Cys1922TyrfsTer15)
c.5745_5746del (p.Cys1916TyrfsTer15)
c.5673_5674del (p.Cys1892TyrfsTer15)
c.5700_5701del (p.Cys1901TyrfsTer15)
c.5703_5704del (p.Cys1902TyrfsTer15)
c.5742_5743del (p.Cys1915TyrfsTer15)
c.5712_5713del (p.Cys1905TyrfsTer15)
n.2534_2535del
c.5607_5608del (p.Cys1870TyrfsTer15)
c.5670_5671del (p.Cys1891TyrfsTer15)
c.5610_5611del (p.Cys1871TyrfsTer15)
c.5808_5809del (p.Cys1937TyrfsTer15)
c.5805_5806del (p.Cys1936TyrfsTer15)
 dbSNP
2g.71669728C>ACA426704530DYSFc.3180C>A (p.Val1060=)
c.2397C>A (p.Val799=)
c.2505C>A (p.Val835=)
c.5649C>A (p.Val1883=)
c.5766C>A (p.Val1922=)
c.5652C>A (p.Val1884=)
c.5715C>A (p.Val1905=)
c.5763C>A (p.Val1921=)
c.5745C>A (p.Val1915=)
c.5673C>A (p.Val1891=)
c.5700C>A (p.Val1900=)
c.5703C>A (p.Val1901=)
c.5742C>A (p.Val1914=)
c.5712C>A (p.Val1904=)
n.2534C>A
c.5607C>A (p.Val1869=)
c.5670C>A (p.Val1890=)
c.5610C>A (p.Val1870=)
c.5808C>A (p.Val1936=)
c.5805C>A (p.Val1935=)
2g.71669728C>GCA426704531DYSFc.3180C>G (p.Val1060=)
c.2397C>G (p.Val799=)
c.2505C>G (p.Val835=)
c.5649C>G (p.Val1883=)
c.5766C>G (p.Val1922=)
c.5652C>G (p.Val1884=)
c.5715C>G (p.Val1905=)
c.5763C>G (p.Val1921=)
c.5745C>G (p.Val1915=)
c.5673C>G (p.Val1891=)
c.5700C>G (p.Val1900=)
c.5703C>G (p.Val1901=)
c.5742C>G (p.Val1914=)
c.5712C>G (p.Val1904=)
n.2534C>G
c.5607C>G (p.Val1869=)
c.5670C>G (p.Val1890=)
c.5610C>G (p.Val1870=)
c.5808C>G (p.Val1936=)
c.5805C>G (p.Val1935=)
2g.71669728C>TCA426704532DYSFc.3180C>T (p.Val1060=)
c.2397C>T (p.Val799=)
c.2505C>T (p.Val835=)
c.5649C>T (p.Val1883=)
c.5766C>T (p.Val1922=)
c.5652C>T (p.Val1884=)
c.5715C>T (p.Val1905=)
c.5763C>T (p.Val1921=)
c.5745C>T (p.Val1915=)
c.5673C>T (p.Val1891=)
c.5700C>T (p.Val1900=)
c.5703C>T (p.Val1901=)
c.5742C>T (p.Val1914=)
c.5712C>T (p.Val1904=)
n.2534C>T
c.5607C>T (p.Val1869=)
c.5670C>T (p.Val1890=)
c.5610C>T (p.Val1870=)
c.5808C>T (p.Val1936=)
c.5805C>T (p.Val1935=)
2g.71669729T>ACA347224112DYSFc.3181T>A (p.Cys1061Ser)
c.2398T>A (p.Cys800Ser)
c.2506T>A (p.Cys836Ser)
c.5650T>A (p.Cys1884Ser)
c.5767T>A (p.Cys1923Ser)
c.5653T>A (p.Cys1885Ser)
c.5716T>A (p.Cys1906Ser)
c.5764T>A (p.Cys1922Ser)
c.5746T>A (p.Cys1916Ser)
c.5674T>A (p.Cys1892Ser)
c.5701T>A (p.Cys1901Ser)
c.5704T>A (p.Cys1902Ser)
c.5743T>A (p.Cys1915Ser)
c.5713T>A (p.Cys1905Ser)
n.2535T>A
c.5608T>A (p.Cys1870Ser)
c.5671T>A (p.Cys1891Ser)
c.5611T>A (p.Cys1871Ser)
c.5809T>A (p.Cys1937Ser)
c.5806T>A (p.Cys1936Ser)
2g.71669729T>CCA347224115DYSFc.3181T>C (p.Cys1061Arg)
c.2398T>C (p.Cys800Arg)
c.2506T>C (p.Cys836Arg)
c.5650T>C (p.Cys1884Arg)
c.5767T>C (p.Cys1923Arg)
c.5653T>C (p.Cys1885Arg)
c.5716T>C (p.Cys1906Arg)
c.5764T>C (p.Cys1922Arg)
c.5746T>C (p.Cys1916Arg)
c.5674T>C (p.Cys1892Arg)
c.5701T>C (p.Cys1901Arg)
c.5704T>C (p.Cys1902Arg)
c.5743T>C (p.Cys1915Arg)
c.5713T>C (p.Cys1905Arg)
n.2535T>C
c.5608T>C (p.Cys1870Arg)
c.5671T>C (p.Cys1891Arg)
c.5611T>C (p.Cys1871Arg)
c.5809T>C (p.Cys1937Arg)
c.5806T>C (p.Cys1936Arg)
2g.71669729T>GCA347224116DYSFc.3181T>G (p.Cys1061Gly)
c.2398T>G (p.Cys800Gly)
c.2506T>G (p.Cys836Gly)
c.5650T>G (p.Cys1884Gly)
c.5767T>G (p.Cys1923Gly)
c.5653T>G (p.Cys1885Gly)
c.5716T>G (p.Cys1906Gly)
c.5764T>G (p.Cys1922Gly)
c.5746T>G (p.Cys1916Gly)
c.5674T>G (p.Cys1892Gly)
c.5701T>G (p.Cys1901Gly)
c.5704T>G (p.Cys1902Gly)
c.5743T>G (p.Cys1915Gly)
c.5713T>G (p.Cys1905Gly)
n.2535T>G
c.5608T>G (p.Cys1870Gly)
c.5671T>G (p.Cys1891Gly)
c.5611T>G (p.Cys1871Gly)
c.5809T>G (p.Cys1937Gly)
c.5806T>G (p.Cys1936Gly)
 gnomAD v4
2g.71669730G>ACA347224119DYSFc.3182G>A (p.Cys1061Tyr)
c.2399G>A (p.Cys800Tyr)
c.2507G>A (p.Cys836Tyr)
c.5651G>A (p.Cys1884Tyr)
c.5768G>A (p.Cys1923Tyr)
c.5654G>A (p.Cys1885Tyr)
c.5717G>A (p.Cys1906Tyr)
c.5765G>A (p.Cys1922Tyr)
c.5747G>A (p.Cys1916Tyr)
c.5675G>A (p.Cys1892Tyr)
c.5702G>A (p.Cys1901Tyr)
c.5705G>A (p.Cys1902Tyr)
c.5744G>A (p.Cys1915Tyr)
c.5714G>A (p.Cys1905Tyr)
n.2536G>A
c.5609G>A (p.Cys1870Tyr)
c.5672G>A (p.Cys1891Tyr)
c.5612G>A (p.Cys1871Tyr)
c.5810G>A (p.Cys1937Tyr)
c.5807G>A (p.Cys1936Tyr)
2g.71669730G>CCA347224122DYSFc.3182G>C (p.Cys1061Ser)
c.2399G>C (p.Cys800Ser)
c.2507G>C (p.Cys836Ser)
c.5651G>C (p.Cys1884Ser)
c.5768G>C (p.Cys1923Ser)
c.5654G>C (p.Cys1885Ser)
c.5717G>C (p.Cys1906Ser)
c.5765G>C (p.Cys1922Ser)
c.5747G>C (p.Cys1916Ser)
c.5675G>C (p.Cys1892Ser)
c.5702G>C (p.Cys1901Ser)
c.5705G>C (p.Cys1902Ser)
c.5744G>C (p.Cys1915Ser)
c.5714G>C (p.Cys1905Ser)
n.2536G>C
c.5609G>C (p.Cys1870Ser)
c.5672G>C (p.Cys1891Ser)
c.5612G>C (p.Cys1871Ser)
c.5810G>C (p.Cys1937Ser)
c.5807G>C (p.Cys1936Ser)
2g.71669730G=CA1260152492DYSFc.3182G= (p.Cys1061=)
c.2399G= (p.Cys800=)
c.2507G= (p.Cys836=)
c.5651G= (p.Cys1884=)
c.5768G= (p.Cys1923=)
c.5654G= (p.Cys1885=)
c.5717G= (p.Cys1906=)
c.5765G= (p.Cys1922=)
c.5747G= (p.Cys1916=)
c.5675G= (p.Cys1892=)
c.5702G= (p.Cys1901=)
c.5705G= (p.Cys1902=)
c.5744G= (p.Cys1915=)
c.5714G= (p.Cys1905=)
n.2536G=
c.5609G= (p.Cys1870=)
c.5672G= (p.Cys1891=)
c.5612G= (p.Cys1871=)
c.5810G= (p.Cys1937=)
c.5807G= (p.Cys1936=)
2g.71669730G>TCA10606384DYSFc.3182G>T (p.Cys1061Phe)
c.2399G>T (p.Cys800Phe)
c.2507G>T (p.Cys836Phe)
c.5651G>T (p.Cys1884Phe)
c.5768G>T (p.Cys1923Phe)
c.5654G>T (p.Cys1885Phe)
c.5717G>T (p.Cys1906Phe)
c.5765G>T (p.Cys1922Phe)
c.5747G>T (p.Cys1916Phe)
c.5675G>T (p.Cys1892Phe)
c.5702G>T (p.Cys1901Phe)
c.5705G>T (p.Cys1902Phe)
c.5744G>T (p.Cys1915Phe)
c.5714G>T (p.Cys1905Phe)
n.2536G>T
c.5609G>T (p.Cys1870Phe)
c.5672G>T (p.Cys1891Phe)
c.5612G>T (p.Cys1871Phe)
c.5810G>T (p.Cys1937Phe)
c.5807G>T (p.Cys1936Phe)
 ClinVar dbSNP
2g.71669731T>ACA347224126DYSFc.3183T>A (p.Cys1061Ter)
c.2400T>A (p.Cys800Ter)
c.2508T>A (p.Cys836Ter)
c.5652T>A (p.Cys1884Ter)
c.5769T>A (p.Cys1923Ter)
c.5655T>A (p.Cys1885Ter)
c.5718T>A (p.Cys1906Ter)
c.5766T>A (p.Cys1922Ter)
c.5748T>A (p.Cys1916Ter)
c.5676T>A (p.Cys1892Ter)
c.5703T>A (p.Cys1901Ter)
c.5706T>A (p.Cys1902Ter)
c.5745T>A (p.Cys1915Ter)
c.5715T>A (p.Cys1905Ter)
n.2537T>A
c.5610T>A (p.Cys1870Ter)
c.5673T>A (p.Cys1891Ter)
c.5613T>A (p.Cys1871Ter)
c.5811T>A (p.Cys1937Ter)
c.5808T>A (p.Cys1936Ter)
2g.71669731T>CCA426704533DYSFc.3183T>C (p.Cys1061=)
c.2400T>C (p.Cys800=)
c.2508T>C (p.Cys836=)
c.5652T>C (p.Cys1884=)
c.5769T>C (p.Cys1923=)
c.5655T>C (p.Cys1885=)
c.5718T>C (p.Cys1906=)
c.5766T>C (p.Cys1922=)
c.5748T>C (p.Cys1916=)
c.5676T>C (p.Cys1892=)
c.5703T>C (p.Cys1901=)
c.5706T>C (p.Cys1902=)
c.5745T>C (p.Cys1915=)
c.5715T>C (p.Cys1905=)
n.2537T>C
c.5610T>C (p.Cys1870=)
c.5673T>C (p.Cys1891=)
c.5613T>C (p.Cys1871=)
c.5811T>C (p.Cys1937=)
c.5808T>C (p.Cys1936=)
 ClinVar dbSNP
2g.71669731T>GCA347224127DYSFc.3183T>G (p.Cys1061Trp)
c.2400T>G (p.Cys800Trp)
c.2508T>G (p.Cys836Trp)
c.5652T>G (p.Cys1884Trp)
c.5769T>G (p.Cys1923Trp)
c.5655T>G (p.Cys1885Trp)
c.5718T>G (p.Cys1906Trp)
c.5766T>G (p.Cys1922Trp)
c.5748T>G (p.Cys1916Trp)
c.5676T>G (p.Cys1892Trp)
c.5703T>G (p.Cys1901Trp)
c.5706T>G (p.Cys1902Trp)
c.5745T>G (p.Cys1915Trp)
c.5715T>G (p.Cys1905Trp)
n.2537T>G
c.5610T>G (p.Cys1870Trp)
c.5673T>G (p.Cys1891Trp)
c.5613T>G (p.Cys1871Trp)
c.5811T>G (p.Cys1937Trp)
c.5808T>G (p.Cys1936Trp)
2g.71669732delCA2750417467DYSFc.3184del (p.Thr1062ProfsTer?)
c.2401del (p.Thr801ProfsTer?)
c.2509del (p.Thr837ProfsTer?)
c.5653del (p.Thr1885ProfsTer?)
c.5770del (p.Thr1924ProfsTer?)
c.5656del (p.Thr1886ProfsTer?)
c.5719del (p.Thr1907ProfsTer?)
c.5767del (p.Thr1923ProfsTer?)
c.5749del (p.Thr1917ProfsTer?)
c.5677del (p.Thr1893ProfsTer?)
c.5704del (p.Thr1902ProfsTer?)
c.5707del (p.Thr1903ProfsTer?)
c.5746del (p.Thr1916ProfsTer?)
c.5716del (p.Thr1906ProfsTer?)
n.2538del
c.5611del (p.Thr1871ProfsTer?)
c.5674del (p.Thr1892ProfsTer?)
c.5614del (p.Thr1872ProfsTer?)
c.5812del (p.Thr1938ProfsTer?)
c.5809del (p.Thr1937ProfsTer?)
2g.71669732A=CA1260152493DYSFc.3184A= (p.Thr1062=)
c.2401A= (p.Thr801=)
c.2509A= (p.Thr837=)
c.5653A= (p.Thr1885=)
c.5770A= (p.Thr1924=)
c.5656A= (p.Thr1886=)
c.5719A= (p.Thr1907=)
c.5767A= (p.Thr1923=)
c.5749A= (p.Thr1917=)
c.5677A= (p.Thr1893=)
c.5704A= (p.Thr1902=)
c.5707A= (p.Thr1903=)
c.5746A= (p.Thr1916=)
c.5716A= (p.Thr1906=)
n.2538A=
c.5611A= (p.Thr1871=)
c.5674A= (p.Thr1892=)
c.5614A= (p.Thr1872=)
c.5812A= (p.Thr1938=)
c.5809A= (p.Thr1937=)
2g.71669732A>CCA347224131DYSFc.3184A>C (p.Thr1062Pro)
c.2401A>C (p.Thr801Pro)
c.2509A>C (p.Thr837Pro)
c.5653A>C (p.Thr1885Pro)
c.5770A>C (p.Thr1924Pro)
c.5656A>C (p.Thr1886Pro)
c.5719A>C (p.Thr1907Pro)
c.5767A>C (p.Thr1923Pro)
c.5749A>C (p.Thr1917Pro)
c.5677A>C (p.Thr1893Pro)
c.5704A>C (p.Thr1902Pro)
c.5707A>C (p.Thr1903Pro)
c.5746A>C (p.Thr1916Pro)
c.5716A>C (p.Thr1906Pro)
n.2538A>C
c.5611A>C (p.Thr1871Pro)
c.5674A>C (p.Thr1892Pro)
c.5614A>C (p.Thr1872Pro)
c.5812A>C (p.Thr1938Pro)
c.5809A>C (p.Thr1937Pro)
2g.71669732A>GCA347224133DYSFc.3184A>G (p.Thr1062Ala)
c.2401A>G (p.Thr801Ala)
c.2509A>G (p.Thr837Ala)
c.5653A>G (p.Thr1885Ala)
c.5770A>G (p.Thr1924Ala)
c.5656A>G (p.Thr1886Ala)
c.5719A>G (p.Thr1907Ala)
c.5767A>G (p.Thr1923Ala)
c.5749A>G (p.Thr1917Ala)
c.5677A>G (p.Thr1893Ala)
c.5704A>G (p.Thr1902Ala)
c.5707A>G (p.Thr1903Ala)
c.5746A>G (p.Thr1916Ala)
c.5716A>G (p.Thr1906Ala)
n.2538A>G
c.5611A>G (p.Thr1871Ala)
c.5674A>G (p.Thr1892Ala)
c.5614A>G (p.Thr1872Ala)
c.5812A>G (p.Thr1938Ala)
c.5809A>G (p.Thr1937Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.71669732A>TCA347224137DYSFc.3184A>T (p.Thr1062Ser)
c.2401A>T (p.Thr801Ser)
c.2509A>T (p.Thr837Ser)
c.5653A>T (p.Thr1885Ser)
c.5770A>T (p.Thr1924Ser)
c.5656A>T (p.Thr1886Ser)
c.5719A>T (p.Thr1907Ser)
c.5767A>T (p.Thr1923Ser)
c.5749A>T (p.Thr1917Ser)
c.5677A>T (p.Thr1893Ser)
c.5704A>T (p.Thr1902Ser)
c.5707A>T (p.Thr1903Ser)
c.5746A>T (p.Thr1916Ser)
c.5716A>T (p.Thr1906Ser)
n.2538A>T
c.5611A>T (p.Thr1871Ser)
c.5674A>T (p.Thr1892Ser)
c.5614A>T (p.Thr1872Ser)
c.5812A>T (p.Thr1938Ser)
c.5809A>T (p.Thr1937Ser)
2g.71669733C>ACA347224139DYSFc.3185C>A (p.Thr1062Asn)
c.2402C>A (p.Thr801Asn)
c.2510C>A (p.Thr837Asn)
c.5654C>A (p.Thr1885Asn)
c.5771C>A (p.Thr1924Asn)
c.5657C>A (p.Thr1886Asn)
c.5720C>A (p.Thr1907Asn)
c.5768C>A (p.Thr1923Asn)
c.5750C>A (p.Thr1917Asn)
c.5678C>A (p.Thr1893Asn)
c.5705C>A (p.Thr1902Asn)
c.5708C>A (p.Thr1903Asn)
c.5747C>A (p.Thr1916Asn)
c.5717C>A (p.Thr1906Asn)
n.2539C>A
c.5612C>A (p.Thr1871Asn)
c.5675C>A (p.Thr1892Asn)
c.5615C>A (p.Thr1872Asn)
c.5813C>A (p.Thr1938Asn)
c.5810C>A (p.Thr1937Asn)
2g.71669733C=CA1260152494DYSFc.3185C= (p.Thr1062=)
c.2402C= (p.Thr801=)
c.2510C= (p.Thr837=)
c.5654C= (p.Thr1885=)
c.5771C= (p.Thr1924=)
c.5657C= (p.Thr1886=)
c.5720C= (p.Thr1907=)
c.5768C= (p.Thr1923=)
c.5750C= (p.Thr1917=)
c.5678C= (p.Thr1893=)
c.5705C= (p.Thr1902=)
c.5708C= (p.Thr1903=)
c.5747C= (p.Thr1916=)
c.5717C= (p.Thr1906=)
n.2539C=
c.5612C= (p.Thr1871=)
c.5675C= (p.Thr1892=)
c.5615C= (p.Thr1872=)
c.5813C= (p.Thr1938=)
c.5810C= (p.Thr1937=)
2g.71669733C>GCA347224141DYSFc.3185C>G (p.Thr1062Ser)
c.2402C>G (p.Thr801Ser)
c.2510C>G (p.Thr837Ser)
c.5654C>G (p.Thr1885Ser)
c.5771C>G (p.Thr1924Ser)
c.5657C>G (p.Thr1886Ser)
c.5720C>G (p.Thr1907Ser)
c.5768C>G (p.Thr1923Ser)
c.5750C>G (p.Thr1917Ser)
c.5678C>G (p.Thr1893Ser)
c.5705C>G (p.Thr1902Ser)
c.5708C>G (p.Thr1903Ser)
c.5747C>G (p.Thr1916Ser)
c.5717C>G (p.Thr1906Ser)
n.2539C>G
c.5612C>G (p.Thr1871Ser)
c.5675C>G (p.Thr1892Ser)
c.5615C>G (p.Thr1872Ser)
c.5813C>G (p.Thr1938Ser)
c.5810C>G (p.Thr1937Ser)
2g.71669733C>TCA347224144DYSFc.3185C>T (p.Thr1062Ile)
c.2402C>T (p.Thr801Ile)
c.2510C>T (p.Thr837Ile)
c.5654C>T (p.Thr1885Ile)
c.5771C>T (p.Thr1924Ile)
c.5657C>T (p.Thr1886Ile)
c.5720C>T (p.Thr1907Ile)
c.5768C>T (p.Thr1923Ile)
c.5750C>T (p.Thr1917Ile)
c.5678C>T (p.Thr1893Ile)
c.5705C>T (p.Thr1902Ile)
c.5708C>T (p.Thr1903Ile)
c.5747C>T (p.Thr1916Ile)
c.5717C>T (p.Thr1906Ile)
n.2539C>T
c.5612C>T (p.Thr1871Ile)
c.5675C>T (p.Thr1892Ile)
c.5615C>T (p.Thr1872Ile)
c.5813C>T (p.Thr1938Ile)
c.5810C>T (p.Thr1937Ile)
 ClinVar dbSNP gnomAD v4
2g.71669734C>ACA426704534DYSFc.3186C>A (p.Thr1062=)
c.2403C>A (p.Thr801=)
c.2511C>A (p.Thr837=)
c.5655C>A (p.Thr1885=)
c.5772C>A (p.Thr1924=)
c.5658C>A (p.Thr1886=)
c.5721C>A (p.Thr1907=)
c.5769C>A (p.Thr1923=)
c.5751C>A (p.Thr1917=)
c.5679C>A (p.Thr1893=)
c.5706C>A (p.Thr1902=)
c.5709C>A (p.Thr1903=)
c.5748C>A (p.Thr1916=)
c.5718C>A (p.Thr1906=)
n.2540C>A
c.5613C>A (p.Thr1871=)
c.5676C>A (p.Thr1892=)
c.5616C>A (p.Thr1872=)
c.5814C>A (p.Thr1938=)
c.5811C>A (p.Thr1937=)
 COSMIC COSMIC
2g.71669734C>GCA426704535DYSFc.3186C>G (p.Thr1062=)
c.2403C>G (p.Thr801=)
c.2511C>G (p.Thr837=)
c.5655C>G (p.Thr1885=)
c.5772C>G (p.Thr1924=)
c.5658C>G (p.Thr1886=)
c.5721C>G (p.Thr1907=)
c.5769C>G (p.Thr1923=)
c.5751C>G (p.Thr1917=)
c.5679C>G (p.Thr1893=)
c.5706C>G (p.Thr1902=)
c.5709C>G (p.Thr1903=)
c.5748C>G (p.Thr1916=)
c.5718C>G (p.Thr1906=)
n.2540C>G
c.5613C>G (p.Thr1871=)
c.5676C>G (p.Thr1892=)
c.5616C>G (p.Thr1872=)
c.5814C>G (p.Thr1938=)
c.5811C>G (p.Thr1937=)
2g.71669734C>TCA426704536DYSFc.3186C>T (p.Thr1062=)
c.2403C>T (p.Thr801=)
c.2511C>T (p.Thr837=)
c.5655C>T (p.Thr1885=)
c.5772C>T (p.Thr1924=)
c.5658C>T (p.Thr1886=)
c.5721C>T (p.Thr1907=)
c.5769C>T (p.Thr1923=)
c.5751C>T (p.Thr1917=)
c.5679C>T (p.Thr1893=)
c.5706C>T (p.Thr1902=)
c.5709C>T (p.Thr1903=)
c.5748C>T (p.Thr1916=)
c.5718C>T (p.Thr1906=)
n.2540C>T
c.5613C>T (p.Thr1871=)
c.5676C>T (p.Thr1892=)
c.5616C>T (p.Thr1872=)
c.5814C>T (p.Thr1938=)
c.5811C>T (p.Thr1937=)
2g.71669735A>CCA347224145DYSFc.3187A>C (p.Ile1063Leu)
c.2404A>C (p.Ile802Leu)
c.2512A>C (p.Ile838Leu)
c.5656A>C (p.Ile1886Leu)
c.5773A>C (p.Ile1925Leu)
c.5659A>C (p.Ile1887Leu)
c.5722A>C (p.Ile1908Leu)
c.5770A>C (p.Ile1924Leu)
c.5752A>C (p.Ile1918Leu)
c.5680A>C (p.Ile1894Leu)
c.5707A>C (p.Ile1903Leu)
c.5710A>C (p.Ile1904Leu)
c.5749A>C (p.Ile1917Leu)
c.5719A>C (p.Ile1907Leu)
n.2541A>C
c.5614A>C (p.Ile1872Leu)
c.5677A>C (p.Ile1893Leu)
c.5617A>C (p.Ile1873Leu)
c.5815A>C (p.Ile1939Leu)
c.5812A>C (p.Ile1938Leu)
2g.71669735A>GCA347224146DYSFc.3187A>G (p.Ile1063Val)
c.2404A>G (p.Ile802Val)
c.2512A>G (p.Ile838Val)
c.5656A>G (p.Ile1886Val)
c.5773A>G (p.Ile1925Val)
c.5659A>G (p.Ile1887Val)
c.5722A>G (p.Ile1908Val)
c.5770A>G (p.Ile1924Val)
c.5752A>G (p.Ile1918Val)
c.5680A>G (p.Ile1894Val)
c.5707A>G (p.Ile1903Val)
c.5710A>G (p.Ile1904Val)
c.5749A>G (p.Ile1917Val)
c.5719A>G (p.Ile1907Val)
n.2541A>G
c.5614A>G (p.Ile1872Val)
c.5677A>G (p.Ile1893Val)
c.5617A>G (p.Ile1873Val)
c.5815A>G (p.Ile1939Val)
c.5812A>G (p.Ile1938Val)
 gnomAD v4
2g.71669735A>TCA347224147DYSFc.3187A>T (p.Ile1063Phe)
c.2404A>T (p.Ile802Phe)
c.2512A>T (p.Ile838Phe)
c.5656A>T (p.Ile1886Phe)
c.5773A>T (p.Ile1925Phe)
c.5659A>T (p.Ile1887Phe)
c.5722A>T (p.Ile1908Phe)
c.5770A>T (p.Ile1924Phe)
c.5752A>T (p.Ile1918Phe)
c.5680A>T (p.Ile1894Phe)
c.5707A>T (p.Ile1903Phe)
c.5710A>T (p.Ile1904Phe)
c.5749A>T (p.Ile1917Phe)
c.5719A>T (p.Ile1907Phe)
n.2541A>T
c.5614A>T (p.Ile1872Phe)
c.5677A>T (p.Ile1893Phe)
c.5617A>T (p.Ile1873Phe)
c.5815A>T (p.Ile1939Phe)
c.5812A>T (p.Ile1938Phe)
2g.71669736T>ACA347224148DYSFc.3188T>A (p.Ile1063Asn)
c.2405T>A (p.Ile802Asn)
c.2513T>A (p.Ile838Asn)
c.5657T>A (p.Ile1886Asn)
c.5774T>A (p.Ile1925Asn)
c.5660T>A (p.Ile1887Asn)
c.5723T>A (p.Ile1908Asn)
c.5771T>A (p.Ile1924Asn)
c.5753T>A (p.Ile1918Asn)
c.5681T>A (p.Ile1894Asn)
c.5708T>A (p.Ile1903Asn)
c.5711T>A (p.Ile1904Asn)
c.5750T>A (p.Ile1917Asn)
c.5720T>A (p.Ile1907Asn)
n.2542T>A
c.5615T>A (p.Ile1872Asn)
c.5678T>A (p.Ile1893Asn)
c.5618T>A (p.Ile1873Asn)
c.5816T>A (p.Ile1939Asn)
c.5813T>A (p.Ile1938Asn)
2g.71669736T>CCA1707488DYSFc.3188T>C (p.Ile1063Thr)
c.2405T>C (p.Ile802Thr)
c.2513T>C (p.Ile838Thr)
c.5657T>C (p.Ile1886Thr)
c.5774T>C (p.Ile1925Thr)
c.5660T>C (p.Ile1887Thr)
c.5723T>C (p.Ile1908Thr)
c.5771T>C (p.Ile1924Thr)
c.5753T>C (p.Ile1918Thr)
c.5681T>C (p.Ile1894Thr)
c.5708T>C (p.Ile1903Thr)
c.5711T>C (p.Ile1904Thr)
c.5750T>C (p.Ile1917Thr)
c.5720T>C (p.Ile1907Thr)
n.2542T>C
c.5615T>C (p.Ile1872Thr)
c.5678T>C (p.Ile1893Thr)
c.5618T>C (p.Ile1873Thr)
c.5816T>C (p.Ile1939Thr)
c.5813T>C (p.Ile1938Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched