Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71669623A>CCA347223458DYSFc.3075A>C (p.Glu1025Asp)
c.2292A>C (p.Glu764Asp)
c.2400A>C (p.Glu800Asp)
c.5544A>C (p.Glu1848Asp)
c.5661A>C (p.Glu1887Asp)
c.5547A>C (p.Glu1849Asp)
c.5610A>C (p.Glu1870Asp)
c.5658A>C (p.Glu1886Asp)
c.5640A>C (p.Glu1880Asp)
c.5568A>C (p.Glu1856Asp)
c.5595A>C (p.Glu1865Asp)
c.5598A>C (p.Glu1866Asp)
c.5637A>C (p.Glu1879Asp)
c.5607A>C (p.Glu1869Asp)
n.2429A>C
c.5502A>C (p.Glu1834Asp)
c.5565A>C (p.Glu1855Asp)
c.5505A>C (p.Glu1835Asp)
c.5703A>C (p.Glu1901Asp)
c.5700A>C (p.Glu1900Asp)
2g.71669623A>GCA426704475DYSFc.3075A>G (p.Glu1025=)
c.2292A>G (p.Glu764=)
c.2400A>G (p.Glu800=)
c.5544A>G (p.Glu1848=)
c.5661A>G (p.Glu1887=)
c.5547A>G (p.Glu1849=)
c.5610A>G (p.Glu1870=)
c.5658A>G (p.Glu1886=)
c.5640A>G (p.Glu1880=)
c.5568A>G (p.Glu1856=)
c.5595A>G (p.Glu1865=)
c.5598A>G (p.Glu1866=)
c.5637A>G (p.Glu1879=)
c.5607A>G (p.Glu1869=)
n.2429A>G
c.5502A>G (p.Glu1834=)
c.5565A>G (p.Glu1855=)
c.5505A>G (p.Glu1835=)
c.5703A>G (p.Glu1901=)
c.5700A>G (p.Glu1900=)
2g.71669623A>TCA347223459DYSFc.3075A>T (p.Glu1025Asp)
c.2292A>T (p.Glu764Asp)
c.2400A>T (p.Glu800Asp)
c.5544A>T (p.Glu1848Asp)
c.5661A>T (p.Glu1887Asp)
c.5547A>T (p.Glu1849Asp)
c.5610A>T (p.Glu1870Asp)
c.5658A>T (p.Glu1886Asp)
c.5640A>T (p.Glu1880Asp)
c.5568A>T (p.Glu1856Asp)
c.5595A>T (p.Glu1865Asp)
c.5598A>T (p.Glu1866Asp)
c.5637A>T (p.Glu1879Asp)
c.5607A>T (p.Glu1869Asp)
n.2429A>T
c.5502A>T (p.Glu1834Asp)
c.5565A>T (p.Glu1855Asp)
c.5505A>T (p.Glu1835Asp)
c.5703A>T (p.Glu1901Asp)
c.5700A>T (p.Glu1900Asp)
2g.71669624G>ACA347223462DYSFc.3076G>A (p.Glu1026Lys)
c.2293G>A (p.Glu765Lys)
c.2401G>A (p.Glu801Lys)
c.5545G>A (p.Glu1849Lys)
c.5662G>A (p.Glu1888Lys)
c.5548G>A (p.Glu1850Lys)
c.5611G>A (p.Glu1871Lys)
c.5659G>A (p.Glu1887Lys)
c.5641G>A (p.Glu1881Lys)
c.5569G>A (p.Glu1857Lys)
c.5596G>A (p.Glu1866Lys)
c.5599G>A (p.Glu1867Lys)
c.5638G>A (p.Glu1880Lys)
c.5608G>A (p.Glu1870Lys)
n.2430G>A
c.5503G>A (p.Glu1835Lys)
c.5566G>A (p.Glu1856Lys)
c.5506G>A (p.Glu1836Lys)
c.5704G>A (p.Glu1902Lys)
c.5701G>A (p.Glu1901Lys)
2g.71669624G>CCA347223463DYSFc.3076G>C (p.Glu1026Gln)
c.2293G>C (p.Glu765Gln)
c.2401G>C (p.Glu801Gln)
c.5545G>C (p.Glu1849Gln)
c.5662G>C (p.Glu1888Gln)
c.5548G>C (p.Glu1850Gln)
c.5611G>C (p.Glu1871Gln)
c.5659G>C (p.Glu1887Gln)
c.5641G>C (p.Glu1881Gln)
c.5569G>C (p.Glu1857Gln)
c.5596G>C (p.Glu1866Gln)
c.5599G>C (p.Glu1867Gln)
c.5638G>C (p.Glu1880Gln)
c.5608G>C (p.Glu1870Gln)
n.2430G>C
c.5503G>C (p.Glu1835Gln)
c.5566G>C (p.Glu1856Gln)
c.5506G>C (p.Glu1836Gln)
c.5704G>C (p.Glu1902Gln)
c.5701G>C (p.Glu1901Gln)
2g.71669624G>TCA347223464DYSFc.3076G>T (p.Glu1026Ter)
c.2293G>T (p.Glu765Ter)
c.2401G>T (p.Glu801Ter)
c.5545G>T (p.Glu1849Ter)
c.5662G>T (p.Glu1888Ter)
c.5548G>T (p.Glu1850Ter)
c.5611G>T (p.Glu1871Ter)
c.5659G>T (p.Glu1887Ter)
c.5641G>T (p.Glu1881Ter)
c.5569G>T (p.Glu1857Ter)
c.5596G>T (p.Glu1866Ter)
c.5599G>T (p.Glu1867Ter)
c.5638G>T (p.Glu1880Ter)
c.5608G>T (p.Glu1870Ter)
n.2430G>T
c.5503G>T (p.Glu1835Ter)
c.5566G>T (p.Glu1856Ter)
c.5506G>T (p.Glu1836Ter)
c.5704G>T (p.Glu1902Ter)
c.5701G>T (p.Glu1901Ter)
2g.71669625A>CCA347223465DYSFc.3077A>C (p.Glu1026Ala)
c.2294A>C (p.Glu765Ala)
c.2402A>C (p.Glu801Ala)
c.5546A>C (p.Glu1849Ala)
c.5663A>C (p.Glu1888Ala)
c.5549A>C (p.Glu1850Ala)
c.5612A>C (p.Glu1871Ala)
c.5660A>C (p.Glu1887Ala)
c.5642A>C (p.Glu1881Ala)
c.5570A>C (p.Glu1857Ala)
c.5597A>C (p.Glu1866Ala)
c.5600A>C (p.Glu1867Ala)
c.5639A>C (p.Glu1880Ala)
c.5609A>C (p.Glu1870Ala)
n.2431A>C
c.5504A>C (p.Glu1835Ala)
c.5567A>C (p.Glu1856Ala)
c.5507A>C (p.Glu1836Ala)
c.5705A>C (p.Glu1902Ala)
c.5702A>C (p.Glu1901Ala)
2g.71669625A>GCA347223466DYSFc.3077A>G (p.Glu1026Gly)
c.2294A>G (p.Glu765Gly)
c.2402A>G (p.Glu801Gly)
c.5546A>G (p.Glu1849Gly)
c.5663A>G (p.Glu1888Gly)
c.5549A>G (p.Glu1850Gly)
c.5612A>G (p.Glu1871Gly)
c.5660A>G (p.Glu1887Gly)
c.5642A>G (p.Glu1881Gly)
c.5570A>G (p.Glu1857Gly)
c.5597A>G (p.Glu1866Gly)
c.5600A>G (p.Glu1867Gly)
c.5639A>G (p.Glu1880Gly)
c.5609A>G (p.Glu1870Gly)
n.2431A>G
c.5504A>G (p.Glu1835Gly)
c.5567A>G (p.Glu1856Gly)
c.5507A>G (p.Glu1836Gly)
c.5705A>G (p.Glu1902Gly)
c.5702A>G (p.Glu1901Gly)
2g.71669625A>TCA347223468DYSFc.3077A>T (p.Glu1026Val)
c.2294A>T (p.Glu765Val)
c.2402A>T (p.Glu801Val)
c.5546A>T (p.Glu1849Val)
c.5663A>T (p.Glu1888Val)
c.5549A>T (p.Glu1850Val)
c.5612A>T (p.Glu1871Val)
c.5660A>T (p.Glu1887Val)
c.5642A>T (p.Glu1881Val)
c.5570A>T (p.Glu1857Val)
c.5597A>T (p.Glu1866Val)
c.5600A>T (p.Glu1867Val)
c.5639A>T (p.Glu1880Val)
c.5609A>T (p.Glu1870Val)
n.2431A>T
c.5504A>T (p.Glu1835Val)
c.5567A>T (p.Glu1856Val)
c.5507A>T (p.Glu1836Val)
c.5705A>T (p.Glu1902Val)
c.5702A>T (p.Glu1901Val)
2g.71669626A>CCA347223470DYSFc.3078A>C (p.Glu1026Asp)
c.2295A>C (p.Glu765Asp)
c.2403A>C (p.Glu801Asp)
c.5547A>C (p.Glu1849Asp)
c.5664A>C (p.Glu1888Asp)
c.5550A>C (p.Glu1850Asp)
c.5613A>C (p.Glu1871Asp)
c.5661A>C (p.Glu1887Asp)
c.5643A>C (p.Glu1881Asp)
c.5571A>C (p.Glu1857Asp)
c.5598A>C (p.Glu1866Asp)
c.5601A>C (p.Glu1867Asp)
c.5640A>C (p.Glu1880Asp)
c.5610A>C (p.Glu1870Asp)
n.2432A>C
c.5505A>C (p.Glu1835Asp)
c.5568A>C (p.Glu1856Asp)
c.5508A>C (p.Glu1836Asp)
c.5706A>C (p.Glu1902Asp)
c.5703A>C (p.Glu1901Asp)
2g.71669626A>GCA426704476DYSFc.3078A>G (p.Glu1026=)
c.2295A>G (p.Glu765=)
c.2403A>G (p.Glu801=)
c.5547A>G (p.Glu1849=)
c.5664A>G (p.Glu1888=)
c.5550A>G (p.Glu1850=)
c.5613A>G (p.Glu1871=)
c.5661A>G (p.Glu1887=)
c.5643A>G (p.Glu1881=)
c.5571A>G (p.Glu1857=)
c.5598A>G (p.Glu1866=)
c.5601A>G (p.Glu1867=)
c.5640A>G (p.Glu1880=)
c.5610A>G (p.Glu1870=)
n.2432A>G
c.5505A>G (p.Glu1835=)
c.5568A>G (p.Glu1856=)
c.5508A>G (p.Glu1836=)
c.5706A>G (p.Glu1902=)
c.5703A>G (p.Glu1901=)
2g.71669626A>TCA347223471DYSFc.3078A>T (p.Glu1026Asp)
c.2295A>T (p.Glu765Asp)
c.2403A>T (p.Glu801Asp)
c.5547A>T (p.Glu1849Asp)
c.5664A>T (p.Glu1888Asp)
c.5550A>T (p.Glu1850Asp)
c.5613A>T (p.Glu1871Asp)
c.5661A>T (p.Glu1887Asp)
c.5643A>T (p.Glu1881Asp)
c.5571A>T (p.Glu1857Asp)
c.5598A>T (p.Glu1866Asp)
c.5601A>T (p.Glu1867Asp)
c.5640A>T (p.Glu1880Asp)
c.5610A>T (p.Glu1870Asp)
n.2432A>T
c.5505A>T (p.Glu1835Asp)
c.5568A>T (p.Glu1856Asp)
c.5508A>T (p.Glu1836Asp)
c.5706A>T (p.Glu1902Asp)
c.5703A>T (p.Glu1901Asp)
2g.71669627C>ACA347223478DYSFc.3079C>A (p.His1027Asn)
c.2296C>A (p.His766Asn)
c.2404C>A (p.His802Asn)
c.5548C>A (p.His1850Asn)
c.5665C>A (p.His1889Asn)
c.5551C>A (p.His1851Asn)
c.5614C>A (p.His1872Asn)
c.5662C>A (p.His1888Asn)
c.5644C>A (p.His1882Asn)
c.5572C>A (p.His1858Asn)
c.5599C>A (p.His1867Asn)
c.5602C>A (p.His1868Asn)
c.5641C>A (p.His1881Asn)
c.5611C>A (p.His1871Asn)
n.2433C>A
c.5506C>A (p.His1836Asn)
c.5569C>A (p.His1857Asn)
c.5509C>A (p.His1837Asn)
c.5707C>A (p.His1903Asn)
c.5704C>A (p.His1902Asn)
2g.71669627C>GCA347223477DYSFc.3079C>G (p.His1027Asp)
c.2296C>G (p.His766Asp)
c.2404C>G (p.His802Asp)
c.5548C>G (p.His1850Asp)
c.5665C>G (p.His1889Asp)
c.5551C>G (p.His1851Asp)
c.5614C>G (p.His1872Asp)
c.5662C>G (p.His1888Asp)
c.5644C>G (p.His1882Asp)
c.5572C>G (p.His1858Asp)
c.5599C>G (p.His1867Asp)
c.5602C>G (p.His1868Asp)
c.5641C>G (p.His1881Asp)
c.5611C>G (p.His1871Asp)
n.2433C>G
c.5506C>G (p.His1836Asp)
c.5569C>G (p.His1857Asp)
c.5509C>G (p.His1837Asp)
c.5707C>G (p.His1903Asp)
c.5704C>G (p.His1902Asp)
2g.71669627C>TCA347223475DYSFc.3079C>T (p.His1027Tyr)
c.2296C>T (p.His766Tyr)
c.2404C>T (p.His802Tyr)
c.5548C>T (p.His1850Tyr)
c.5665C>T (p.His1889Tyr)
c.5551C>T (p.His1851Tyr)
c.5614C>T (p.His1872Tyr)
c.5662C>T (p.His1888Tyr)
c.5644C>T (p.His1882Tyr)
c.5572C>T (p.His1858Tyr)
c.5599C>T (p.His1867Tyr)
c.5602C>T (p.His1868Tyr)
c.5641C>T (p.His1881Tyr)
c.5611C>T (p.His1871Tyr)
n.2433C>T
c.5506C>T (p.His1836Tyr)
c.5569C>T (p.His1857Tyr)
c.5509C>T (p.His1837Tyr)
c.5707C>T (p.His1903Tyr)
c.5704C>T (p.His1902Tyr)
2g.71669628A>CCA347223480DYSFc.3080A>C (p.His1027Pro)
c.2297A>C (p.His766Pro)
c.2405A>C (p.His802Pro)
c.5549A>C (p.His1850Pro)
c.5666A>C (p.His1889Pro)
c.5552A>C (p.His1851Pro)
c.5615A>C (p.His1872Pro)
c.5663A>C (p.His1888Pro)
c.5645A>C (p.His1882Pro)
c.5573A>C (p.His1858Pro)
c.5600A>C (p.His1867Pro)
c.5603A>C (p.His1868Pro)
c.5642A>C (p.His1881Pro)
c.5612A>C (p.His1871Pro)
n.2434A>C
c.5507A>C (p.His1836Pro)
c.5570A>C (p.His1857Pro)
c.5510A>C (p.His1837Pro)
c.5708A>C (p.His1903Pro)
c.5705A>C (p.His1902Pro)
2g.71669628A>GCA347223482DYSFc.3080A>G (p.His1027Arg)
c.2297A>G (p.His766Arg)
c.2405A>G (p.His802Arg)
c.5549A>G (p.His1850Arg)
c.5666A>G (p.His1889Arg)
c.5552A>G (p.His1851Arg)
c.5615A>G (p.His1872Arg)
c.5663A>G (p.His1888Arg)
c.5645A>G (p.His1882Arg)
c.5573A>G (p.His1858Arg)
c.5600A>G (p.His1867Arg)
c.5603A>G (p.His1868Arg)
c.5642A>G (p.His1881Arg)
c.5612A>G (p.His1871Arg)
n.2434A>G
c.5507A>G (p.His1836Arg)
c.5570A>G (p.His1857Arg)
c.5510A>G (p.His1837Arg)
c.5708A>G (p.His1903Arg)
c.5705A>G (p.His1902Arg)
2g.71669628A>TCA347223484DYSFc.3080A>T (p.His1027Leu)
c.2297A>T (p.His766Leu)
c.2405A>T (p.His802Leu)
c.5549A>T (p.His1850Leu)
c.5666A>T (p.His1889Leu)
c.5552A>T (p.His1851Leu)
c.5615A>T (p.His1872Leu)
c.5663A>T (p.His1888Leu)
c.5645A>T (p.His1882Leu)
c.5573A>T (p.His1858Leu)
c.5600A>T (p.His1867Leu)
c.5603A>T (p.His1868Leu)
c.5642A>T (p.His1881Leu)
c.5612A>T (p.His1871Leu)
n.2434A>T
c.5507A>T (p.His1836Leu)
c.5570A>T (p.His1857Leu)
c.5510A>T (p.His1837Leu)
c.5708A>T (p.His1903Leu)
c.5705A>T (p.His1902Leu)
2g.71669629C>ACA347223485DYSFc.3081C>A (p.His1027Gln)
c.2298C>A (p.His766Gln)
c.2406C>A (p.His802Gln)
c.5550C>A (p.His1850Gln)
c.5667C>A (p.His1889Gln)
c.5553C>A (p.His1851Gln)
c.5616C>A (p.His1872Gln)
c.5664C>A (p.His1888Gln)
c.5646C>A (p.His1882Gln)
c.5574C>A (p.His1858Gln)
c.5601C>A (p.His1867Gln)
c.5604C>A (p.His1868Gln)
c.5643C>A (p.His1881Gln)
c.5613C>A (p.His1871Gln)
n.2435C>A
c.5508C>A (p.His1836Gln)
c.5571C>A (p.His1857Gln)
c.5511C>A (p.His1837Gln)
c.5709C>A (p.His1903Gln)
c.5706C>A (p.His1902Gln)
2g.71669629C>GCA347223487DYSFc.3081C>G (p.His1027Gln)
c.2298C>G (p.His766Gln)
c.2406C>G (p.His802Gln)
c.5550C>G (p.His1850Gln)
c.5667C>G (p.His1889Gln)
c.5553C>G (p.His1851Gln)
c.5616C>G (p.His1872Gln)
c.5664C>G (p.His1888Gln)
c.5646C>G (p.His1882Gln)
c.5574C>G (p.His1858Gln)
c.5601C>G (p.His1867Gln)
c.5604C>G (p.His1868Gln)
c.5643C>G (p.His1881Gln)
c.5613C>G (p.His1871Gln)
n.2435C>G
c.5508C>G (p.His1836Gln)
c.5571C>G (p.His1857Gln)
c.5511C>G (p.His1837Gln)
c.5709C>G (p.His1903Gln)
c.5706C>G (p.His1902Gln)
2g.71669629C>TCA426704477DYSFc.3081C>T (p.His1027=)
c.2298C>T (p.His766=)
c.2406C>T (p.His802=)
c.5550C>T (p.His1850=)
c.5667C>T (p.His1889=)
c.5553C>T (p.His1851=)
c.5616C>T (p.His1872=)
c.5664C>T (p.His1888=)
c.5646C>T (p.His1882=)
c.5574C>T (p.His1858=)
c.5601C>T (p.His1867=)
c.5604C>T (p.His1868=)
c.5643C>T (p.His1881=)
c.5613C>T (p.His1871=)
n.2435C>T
c.5508C>T (p.His1836=)
c.5571C>T (p.His1857=)
c.5511C>T (p.His1837=)
c.5709C>T (p.His1903=)
c.5706C>T (p.His1902=)
2g.71669630A>CCA347223491DYSFc.3082A>C (p.Lys1028Gln)
c.2299A>C (p.Lys767Gln)
c.2407A>C (p.Lys803Gln)
c.5551A>C (p.Lys1851Gln)
c.5668A>C (p.Lys1890Gln)
c.5554A>C (p.Lys1852Gln)
c.5617A>C (p.Lys1873Gln)
c.5665A>C (p.Lys1889Gln)
c.5647A>C (p.Lys1883Gln)
c.5575A>C (p.Lys1859Gln)
c.5602A>C (p.Lys1868Gln)
c.5605A>C (p.Lys1869Gln)
c.5644A>C (p.Lys1882Gln)
c.5614A>C (p.Lys1872Gln)
n.2436A>C
c.5509A>C (p.Lys1837Gln)
c.5572A>C (p.Lys1858Gln)
c.5512A>C (p.Lys1838Gln)
c.5710A>C (p.Lys1904Gln)
c.5707A>C (p.Lys1903Gln)
2g.71669630A>GCA347223493DYSFc.3082A>G (p.Lys1028Glu)
c.2299A>G (p.Lys767Glu)
c.2407A>G (p.Lys803Glu)
c.5551A>G (p.Lys1851Glu)
c.5668A>G (p.Lys1890Glu)
c.5554A>G (p.Lys1852Glu)
c.5617A>G (p.Lys1873Glu)
c.5665A>G (p.Lys1889Glu)
c.5647A>G (p.Lys1883Glu)
c.5575A>G (p.Lys1859Glu)
c.5602A>G (p.Lys1868Glu)
c.5605A>G (p.Lys1869Glu)
c.5644A>G (p.Lys1882Glu)
c.5614A>G (p.Lys1872Glu)
n.2436A>G
c.5509A>G (p.Lys1837Glu)
c.5572A>G (p.Lys1858Glu)
c.5512A>G (p.Lys1838Glu)
c.5710A>G (p.Lys1904Glu)
c.5707A>G (p.Lys1903Glu)
2g.71669630A>TCA347223497DYSFc.3082A>T (p.Lys1028Ter)
c.2299A>T (p.Lys767Ter)
c.2407A>T (p.Lys803Ter)
c.5551A>T (p.Lys1851Ter)
c.5668A>T (p.Lys1890Ter)
c.5554A>T (p.Lys1852Ter)
c.5617A>T (p.Lys1873Ter)
c.5665A>T (p.Lys1889Ter)
c.5647A>T (p.Lys1883Ter)
c.5575A>T (p.Lys1859Ter)
c.5602A>T (p.Lys1868Ter)
c.5605A>T (p.Lys1869Ter)
c.5644A>T (p.Lys1882Ter)
c.5614A>T (p.Lys1872Ter)
n.2436A>T
c.5509A>T (p.Lys1837Ter)
c.5572A>T (p.Lys1858Ter)
c.5512A>T (p.Lys1838Ter)
c.5710A>T (p.Lys1904Ter)
c.5707A>T (p.Lys1903Ter)
2g.71669631delCA2740286090DYSFc.3083del (p.Lys1028SerfsTer?)
c.2300del (p.Lys767SerfsTer?)
c.2408del (p.Lys803SerfsTer?)
c.5552del (p.Lys1851SerfsTer?)
c.5669del (p.Lys1890SerfsTer?)
c.5555del (p.Lys1852SerfsTer?)
c.5618del (p.Lys1873SerfsTer?)
c.5666del (p.Lys1889SerfsTer?)
c.5648del (p.Lys1883SerfsTer?)
c.5576del (p.Lys1859SerfsTer?)
c.5603del (p.Lys1868SerfsTer?)
c.5606del (p.Lys1869SerfsTer?)
c.5645del (p.Lys1882SerfsTer?)
c.5615del (p.Lys1872SerfsTer?)
n.2437del
c.5510del (p.Lys1837SerfsTer?)
c.5573del (p.Lys1858SerfsTer?)
c.5513del (p.Lys1838SerfsTer?)
c.5711del (p.Lys1904SerfsTer?)
c.5708del (p.Lys1903SerfsTer?)
2g.71669631A>CCA347223500DYSFc.3083A>C (p.Lys1028Thr)
c.2300A>C (p.Lys767Thr)
c.2408A>C (p.Lys803Thr)
c.5552A>C (p.Lys1851Thr)
c.5669A>C (p.Lys1890Thr)
c.5555A>C (p.Lys1852Thr)
c.5618A>C (p.Lys1873Thr)
c.5666A>C (p.Lys1889Thr)
c.5648A>C (p.Lys1883Thr)
c.5576A>C (p.Lys1859Thr)
c.5603A>C (p.Lys1868Thr)
c.5606A>C (p.Lys1869Thr)
c.5645A>C (p.Lys1882Thr)
c.5615A>C (p.Lys1872Thr)
n.2437A>C
c.5510A>C (p.Lys1837Thr)
c.5573A>C (p.Lys1858Thr)
c.5513A>C (p.Lys1838Thr)
c.5711A>C (p.Lys1904Thr)
c.5708A>C (p.Lys1903Thr)
2g.71669631A>GCA347223502DYSFc.3083A>G (p.Lys1028Arg)
c.2300A>G (p.Lys767Arg)
c.2408A>G (p.Lys803Arg)
c.5552A>G (p.Lys1851Arg)
c.5669A>G (p.Lys1890Arg)
c.5555A>G (p.Lys1852Arg)
c.5618A>G (p.Lys1873Arg)
c.5666A>G (p.Lys1889Arg)
c.5648A>G (p.Lys1883Arg)
c.5576A>G (p.Lys1859Arg)
c.5603A>G (p.Lys1868Arg)
c.5606A>G (p.Lys1869Arg)
c.5645A>G (p.Lys1882Arg)
c.5615A>G (p.Lys1872Arg)
n.2437A>G
c.5510A>G (p.Lys1837Arg)
c.5573A>G (p.Lys1858Arg)
c.5513A>G (p.Lys1838Arg)
c.5711A>G (p.Lys1904Arg)
c.5708A>G (p.Lys1903Arg)
2g.71669631A>TCA347223505DYSFc.3083A>T (p.Lys1028Met)
c.2300A>T (p.Lys767Met)
c.2408A>T (p.Lys803Met)
c.5552A>T (p.Lys1851Met)
c.5669A>T (p.Lys1890Met)
c.5555A>T (p.Lys1852Met)
c.5618A>T (p.Lys1873Met)
c.5666A>T (p.Lys1889Met)
c.5648A>T (p.Lys1883Met)
c.5576A>T (p.Lys1859Met)
c.5603A>T (p.Lys1868Met)
c.5606A>T (p.Lys1869Met)
c.5645A>T (p.Lys1882Met)
c.5615A>T (p.Lys1872Met)
n.2437A>T
c.5510A>T (p.Lys1837Met)
c.5573A>T (p.Lys1858Met)
c.5513A>T (p.Lys1838Met)
c.5711A>T (p.Lys1904Met)
c.5708A>T (p.Lys1903Met)
2g.71669632G>ACA426704478DYSFc.3084G>A (p.Lys1028=)
c.2301G>A (p.Lys767=)
c.2409G>A (p.Lys803=)
c.5553G>A (p.Lys1851=)
c.5670G>A (p.Lys1890=)
c.5556G>A (p.Lys1852=)
c.5619G>A (p.Lys1873=)
c.5667G>A (p.Lys1889=)
c.5649G>A (p.Lys1883=)
c.5577G>A (p.Lys1859=)
c.5604G>A (p.Lys1868=)
c.5607G>A (p.Lys1869=)
c.5646G>A (p.Lys1882=)
c.5616G>A (p.Lys1872=)
n.2438G>A
c.5511G>A (p.Lys1837=)
c.5574G>A (p.Lys1858=)
c.5514G>A (p.Lys1838=)
c.5712G>A (p.Lys1904=)
c.5709G>A (p.Lys1903=)
 gnomAD v4
2g.71669632G>CCA347223508DYSFc.3084G>C (p.Lys1028Asn)
c.2301G>C (p.Lys767Asn)
c.2409G>C (p.Lys803Asn)
c.5553G>C (p.Lys1851Asn)
c.5670G>C (p.Lys1890Asn)
c.5556G>C (p.Lys1852Asn)
c.5619G>C (p.Lys1873Asn)
c.5667G>C (p.Lys1889Asn)
c.5649G>C (p.Lys1883Asn)
c.5577G>C (p.Lys1859Asn)
c.5604G>C (p.Lys1868Asn)
c.5607G>C (p.Lys1869Asn)
c.5646G>C (p.Lys1882Asn)
c.5616G>C (p.Lys1872Asn)
n.2438G>C
c.5511G>C (p.Lys1837Asn)
c.5574G>C (p.Lys1858Asn)
c.5514G>C (p.Lys1838Asn)
c.5712G>C (p.Lys1904Asn)
c.5709G>C (p.Lys1903Asn)
2g.71669632G>TCA347223510DYSFc.3084G>T (p.Lys1028Asn)
c.2301G>T (p.Lys767Asn)
c.2409G>T (p.Lys803Asn)
c.5553G>T (p.Lys1851Asn)
c.5670G>T (p.Lys1890Asn)
c.5556G>T (p.Lys1852Asn)
c.5619G>T (p.Lys1873Asn)
c.5667G>T (p.Lys1889Asn)
c.5649G>T (p.Lys1883Asn)
c.5577G>T (p.Lys1859Asn)
c.5604G>T (p.Lys1868Asn)
c.5607G>T (p.Lys1869Asn)
c.5646G>T (p.Lys1882Asn)
c.5616G>T (p.Lys1872Asn)
n.2438G>T
c.5511G>T (p.Lys1837Asn)
c.5574G>T (p.Lys1858Asn)
c.5514G>T (p.Lys1838Asn)
c.5712G>T (p.Lys1904Asn)
c.5709G>T (p.Lys1903Asn)
2g.71669633C>ACA347223514DYSFc.3085C>A (p.Gln1029Lys)
c.2302C>A (p.Gln768Lys)
c.2410C>A (p.Gln804Lys)
c.5554C>A (p.Gln1852Lys)
c.5671C>A (p.Gln1891Lys)
c.5557C>A (p.Gln1853Lys)
c.5620C>A (p.Gln1874Lys)
c.5668C>A (p.Gln1890Lys)
c.5650C>A (p.Gln1884Lys)
c.5578C>A (p.Gln1860Lys)
c.5605C>A (p.Gln1869Lys)
c.5608C>A (p.Gln1870Lys)
c.5647C>A (p.Gln1883Lys)
c.5617C>A (p.Gln1873Lys)
n.2439C>A
c.5512C>A (p.Gln1838Lys)
c.5575C>A (p.Gln1859Lys)
c.5515C>A (p.Gln1839Lys)
c.5713C>A (p.Gln1905Lys)
c.5710C>A (p.Gln1904Lys)
2g.71669633C>GCA347223517DYSFc.3085C>G (p.Gln1029Glu)
c.2302C>G (p.Gln768Glu)
c.2410C>G (p.Gln804Glu)
c.5554C>G (p.Gln1852Glu)
c.5671C>G (p.Gln1891Glu)
c.5557C>G (p.Gln1853Glu)
c.5620C>G (p.Gln1874Glu)
c.5668C>G (p.Gln1890Glu)
c.5650C>G (p.Gln1884Glu)
c.5578C>G (p.Gln1860Glu)
c.5605C>G (p.Gln1869Glu)
c.5608C>G (p.Gln1870Glu)
c.5647C>G (p.Gln1883Glu)
c.5617C>G (p.Gln1873Glu)
n.2439C>G
c.5512C>G (p.Gln1838Glu)
c.5575C>G (p.Gln1859Glu)
c.5515C>G (p.Gln1839Glu)
c.5713C>G (p.Gln1905Glu)
c.5710C>G (p.Gln1904Glu)
 gnomAD v4
2g.71669633C>TCA347223512DYSFc.3085C>T (p.Gln1029Ter)
c.2302C>T (p.Gln768Ter)
c.2410C>T (p.Gln804Ter)
c.5554C>T (p.Gln1852Ter)
c.5671C>T (p.Gln1891Ter)
c.5557C>T (p.Gln1853Ter)
c.5620C>T (p.Gln1874Ter)
c.5668C>T (p.Gln1890Ter)
c.5650C>T (p.Gln1884Ter)
c.5578C>T (p.Gln1860Ter)
c.5605C>T (p.Gln1869Ter)
c.5608C>T (p.Gln1870Ter)
c.5647C>T (p.Gln1883Ter)
c.5617C>T (p.Gln1873Ter)
n.2439C>T
c.5512C>T (p.Gln1838Ter)
c.5575C>T (p.Gln1859Ter)
c.5515C>T (p.Gln1839Ter)
c.5713C>T (p.Gln1905Ter)
c.5710C>T (p.Gln1904Ter)
 ClinVar dbSNP gnomAD v4
2g.71669633_71669634delinsCACA1260152444DYSFc.3085_3086delinsCA (p.Gln1029=)
c.2302_2303delinsCA (p.Gln768=)
c.2410_2411delinsCA (p.Gln804=)
c.5554_5555delinsCA (p.Gln1852=)
c.5671_5672delinsCA (p.Gln1891=)
c.5557_5558delinsCA (p.Gln1853=)
c.5620_5621delinsCA (p.Gln1874=)
c.5668_5669delinsCA (p.Gln1890=)
c.5650_5651delinsCA (p.Gln1884=)
c.5578_5579delinsCA (p.Gln1860=)
c.5605_5606delinsCA (p.Gln1869=)
c.5608_5609delinsCA (p.Gln1870=)
c.5647_5648delinsCA (p.Gln1883=)
c.5617_5618delinsCA (p.Gln1873=)
n.2439_2440delinsCA
c.5512_5513delinsCA (p.Gln1838=)
c.5575_5576delinsCA (p.Gln1859=)
c.5515_5516delinsCA (p.Gln1839=)
c.5713_5714delinsCA (p.Gln1905=)
c.5710_5711delinsCA (p.Gln1904=)
2g.71669634A>CCA347223524DYSFc.3086A>C (p.Gln1029Pro)
c.2303A>C (p.Gln768Pro)
c.2411A>C (p.Gln804Pro)
c.5555A>C (p.Gln1852Pro)
c.5672A>C (p.Gln1891Pro)
c.5558A>C (p.Gln1853Pro)
c.5621A>C (p.Gln1874Pro)
c.5669A>C (p.Gln1890Pro)
c.5651A>C (p.Gln1884Pro)
c.5579A>C (p.Gln1860Pro)
c.5606A>C (p.Gln1869Pro)
c.5609A>C (p.Gln1870Pro)
c.5648A>C (p.Gln1883Pro)
c.5618A>C (p.Gln1873Pro)
n.2440A>C
c.5513A>C (p.Gln1838Pro)
c.5576A>C (p.Gln1859Pro)
c.5516A>C (p.Gln1839Pro)
c.5714A>C (p.Gln1905Pro)
c.5711A>C (p.Gln1904Pro)
2g.71669634A>GCA347223520DYSFc.3086A>G (p.Gln1029Arg)
c.2303A>G (p.Gln768Arg)
c.2411A>G (p.Gln804Arg)
c.5555A>G (p.Gln1852Arg)
c.5672A>G (p.Gln1891Arg)
c.5558A>G (p.Gln1853Arg)
c.5621A>G (p.Gln1874Arg)
c.5669A>G (p.Gln1890Arg)
c.5651A>G (p.Gln1884Arg)
c.5579A>G (p.Gln1860Arg)
c.5606A>G (p.Gln1869Arg)
c.5609A>G (p.Gln1870Arg)
c.5648A>G (p.Gln1883Arg)
c.5618A>G (p.Gln1873Arg)
n.2440A>G
c.5513A>G (p.Gln1838Arg)
c.5576A>G (p.Gln1859Arg)
c.5516A>G (p.Gln1839Arg)
c.5714A>G (p.Gln1905Arg)
c.5711A>G (p.Gln1904Arg)
2g.71669634A>TCA347223522DYSFc.3086A>T (p.Gln1029Leu)
c.2303A>T (p.Gln768Leu)
c.2411A>T (p.Gln804Leu)
c.5555A>T (p.Gln1852Leu)
c.5672A>T (p.Gln1891Leu)
c.5558A>T (p.Gln1853Leu)
c.5621A>T (p.Gln1874Leu)
c.5669A>T (p.Gln1890Leu)
c.5651A>T (p.Gln1884Leu)
c.5579A>T (p.Gln1860Leu)
c.5606A>T (p.Gln1869Leu)
c.5609A>T (p.Gln1870Leu)
c.5648A>T (p.Gln1883Leu)
c.5618A>T (p.Gln1873Leu)
n.2440A>T
c.5513A>T (p.Gln1838Leu)
c.5576A>T (p.Gln1859Leu)
c.5516A>T (p.Gln1839Leu)
c.5714A>T (p.Gln1905Leu)
c.5711A>T (p.Gln1904Leu)
2g.71669637delCA916564174DYSFc.3089del (p.Lys1030ArgfsTer?)
c.2306del (p.Lys769ArgfsTer?)
c.2414del (p.Lys805ArgfsTer?)
c.5558del (p.Lys1853ArgfsTer?)
c.5675del (p.Lys1892ArgfsTer?)
c.5561del (p.Lys1854ArgfsTer?)
c.5624del (p.Lys1875ArgfsTer?)
c.5672del (p.Lys1891ArgfsTer?)
c.5654del (p.Lys1885ArgfsTer?)
c.5582del (p.Lys1861ArgfsTer?)
c.5609del (p.Lys1870ArgfsTer?)
c.5612del (p.Lys1871ArgfsTer?)
c.5651del (p.Lys1884ArgfsTer?)
c.5621del (p.Lys1874ArgfsTer?)
n.2443del
c.5516del (p.Lys1839ArgfsTer?)
c.5579del (p.Lys1860ArgfsTer?)
c.5519del (p.Lys1840ArgfsTer?)
c.5717del (p.Lys1906ArgfsTer?)
c.5714del (p.Lys1905ArgfsTer?)
 dbSNP
2g.71669635A>CCA347223526DYSFc.3087A>C (p.Gln1029His)
c.2304A>C (p.Gln768His)
c.2412A>C (p.Gln804His)
c.5556A>C (p.Gln1852His)
c.5673A>C (p.Gln1891His)
c.5559A>C (p.Gln1853His)
c.5622A>C (p.Gln1874His)
c.5670A>C (p.Gln1890His)
c.5652A>C (p.Gln1884His)
c.5580A>C (p.Gln1860His)
c.5607A>C (p.Gln1869His)
c.5610A>C (p.Gln1870His)
c.5649A>C (p.Gln1883His)
c.5619A>C (p.Gln1873His)
n.2441A>C
c.5514A>C (p.Gln1838His)
c.5577A>C (p.Gln1859His)
c.5517A>C (p.Gln1839His)
c.5715A>C (p.Gln1905His)
c.5712A>C (p.Gln1904His)
2g.71669635A>GCA426704479DYSFc.3087A>G (p.Gln1029=)
c.2304A>G (p.Gln768=)
c.2412A>G (p.Gln804=)
c.5556A>G (p.Gln1852=)
c.5673A>G (p.Gln1891=)
c.5559A>G (p.Gln1853=)
c.5622A>G (p.Gln1874=)
c.5670A>G (p.Gln1890=)
c.5652A>G (p.Gln1884=)
c.5580A>G (p.Gln1860=)
c.5607A>G (p.Gln1869=)
c.5610A>G (p.Gln1870=)
c.5649A>G (p.Gln1883=)
c.5619A>G (p.Gln1873=)
n.2441A>G
c.5514A>G (p.Gln1838=)
c.5577A>G (p.Gln1859=)
c.5517A>G (p.Gln1839=)
c.5715A>G (p.Gln1905=)
c.5712A>G (p.Gln1904=)
2g.71669635A>TCA347223528DYSFc.3087A>T (p.Gln1029His)
c.2304A>T (p.Gln768His)
c.2412A>T (p.Gln804His)
c.5556A>T (p.Gln1852His)
c.5673A>T (p.Gln1891His)
c.5559A>T (p.Gln1853His)
c.5622A>T (p.Gln1874His)
c.5670A>T (p.Gln1890His)
c.5652A>T (p.Gln1884His)
c.5580A>T (p.Gln1860His)
c.5607A>T (p.Gln1869His)
c.5610A>T (p.Gln1870His)
c.5649A>T (p.Gln1883His)
c.5619A>T (p.Gln1873His)
n.2441A>T
c.5514A>T (p.Gln1838His)
c.5577A>T (p.Gln1859His)
c.5517A>T (p.Gln1839His)
c.5715A>T (p.Gln1905His)
c.5712A>T (p.Gln1904His)
2g.71669636A>CCA347223531DYSFc.3088A>C (p.Lys1030Gln)
c.2305A>C (p.Lys769Gln)
c.2413A>C (p.Lys805Gln)
c.5557A>C (p.Lys1853Gln)
c.5674A>C (p.Lys1892Gln)
c.5560A>C (p.Lys1854Gln)
c.5623A>C (p.Lys1875Gln)
c.5671A>C (p.Lys1891Gln)
c.5653A>C (p.Lys1885Gln)
c.5581A>C (p.Lys1861Gln)
c.5608A>C (p.Lys1870Gln)
c.5611A>C (p.Lys1871Gln)
c.5650A>C (p.Lys1884Gln)
c.5620A>C (p.Lys1874Gln)
n.2442A>C
c.5515A>C (p.Lys1839Gln)
c.5578A>C (p.Lys1860Gln)
c.5518A>C (p.Lys1840Gln)
c.5716A>C (p.Lys1906Gln)
c.5713A>C (p.Lys1905Gln)
2g.71669636A>GCA347223533DYSFc.3088A>G (p.Lys1030Glu)
c.2305A>G (p.Lys769Glu)
c.2413A>G (p.Lys805Glu)
c.5557A>G (p.Lys1853Glu)
c.5674A>G (p.Lys1892Glu)
c.5560A>G (p.Lys1854Glu)
c.5623A>G (p.Lys1875Glu)
c.5671A>G (p.Lys1891Glu)
c.5653A>G (p.Lys1885Glu)
c.5581A>G (p.Lys1861Glu)
c.5608A>G (p.Lys1870Glu)
c.5611A>G (p.Lys1871Glu)
c.5650A>G (p.Lys1884Glu)
c.5620A>G (p.Lys1874Glu)
n.2442A>G
c.5515A>G (p.Lys1839Glu)
c.5578A>G (p.Lys1860Glu)
c.5518A>G (p.Lys1840Glu)
c.5716A>G (p.Lys1906Glu)
c.5713A>G (p.Lys1905Glu)
2g.71669636A>TCA347223534DYSFc.3088A>T (p.Lys1030Ter)
c.2305A>T (p.Lys769Ter)
c.2413A>T (p.Lys805Ter)
c.5557A>T (p.Lys1853Ter)
c.5674A>T (p.Lys1892Ter)
c.5560A>T (p.Lys1854Ter)
c.5623A>T (p.Lys1875Ter)
c.5671A>T (p.Lys1891Ter)
c.5653A>T (p.Lys1885Ter)
c.5581A>T (p.Lys1861Ter)
c.5608A>T (p.Lys1870Ter)
c.5611A>T (p.Lys1871Ter)
c.5650A>T (p.Lys1884Ter)
c.5620A>T (p.Lys1874Ter)
n.2442A>T
c.5515A>T (p.Lys1839Ter)
c.5578A>T (p.Lys1860Ter)
c.5518A>T (p.Lys1840Ter)
c.5716A>T (p.Lys1906Ter)
c.5713A>T (p.Lys1905Ter)
2g.71669637A>CCA347223539DYSFc.3089A>C (p.Lys1030Thr)
c.2306A>C (p.Lys769Thr)
c.2414A>C (p.Lys805Thr)
c.5558A>C (p.Lys1853Thr)
c.5675A>C (p.Lys1892Thr)
c.5561A>C (p.Lys1854Thr)
c.5624A>C (p.Lys1875Thr)
c.5672A>C (p.Lys1891Thr)
c.5654A>C (p.Lys1885Thr)
c.5582A>C (p.Lys1861Thr)
c.5609A>C (p.Lys1870Thr)
c.5612A>C (p.Lys1871Thr)
c.5651A>C (p.Lys1884Thr)
c.5621A>C (p.Lys1874Thr)
n.2443A>C
c.5516A>C (p.Lys1839Thr)
c.5579A>C (p.Lys1860Thr)
c.5519A>C (p.Lys1840Thr)
c.5717A>C (p.Lys1906Thr)
c.5714A>C (p.Lys1905Thr)
2g.71669637A>GCA347223537DYSFc.3089A>G (p.Lys1030Arg)
c.2306A>G (p.Lys769Arg)
c.2414A>G (p.Lys805Arg)
c.5558A>G (p.Lys1853Arg)
c.5675A>G (p.Lys1892Arg)
c.5561A>G (p.Lys1854Arg)
c.5624A>G (p.Lys1875Arg)
c.5672A>G (p.Lys1891Arg)
c.5654A>G (p.Lys1885Arg)
c.5582A>G (p.Lys1861Arg)
c.5609A>G (p.Lys1870Arg)
c.5612A>G (p.Lys1871Arg)
c.5651A>G (p.Lys1884Arg)
c.5621A>G (p.Lys1874Arg)
n.2443A>G
c.5516A>G (p.Lys1839Arg)
c.5579A>G (p.Lys1860Arg)
c.5519A>G (p.Lys1840Arg)
c.5717A>G (p.Lys1906Arg)
c.5714A>G (p.Lys1905Arg)
2g.71669637A>TCA347223538DYSFc.3089A>T (p.Lys1030Met)
c.2306A>T (p.Lys769Met)
c.2414A>T (p.Lys805Met)
c.5558A>T (p.Lys1853Met)
c.5675A>T (p.Lys1892Met)
c.5561A>T (p.Lys1854Met)
c.5624A>T (p.Lys1875Met)
c.5672A>T (p.Lys1891Met)
c.5654A>T (p.Lys1885Met)
c.5582A>T (p.Lys1861Met)
c.5609A>T (p.Lys1870Met)
c.5612A>T (p.Lys1871Met)
c.5651A>T (p.Lys1884Met)
c.5621A>T (p.Lys1874Met)
n.2443A>T
c.5516A>T (p.Lys1839Met)
c.5579A>T (p.Lys1860Met)
c.5519A>T (p.Lys1840Met)
c.5717A>T (p.Lys1906Met)
c.5714A>T (p.Lys1905Met)
2g.71669638G>ACA426704480DYSFc.3090G>A (p.Lys1030=)
c.2307G>A (p.Lys769=)
c.2415G>A (p.Lys805=)
c.5559G>A (p.Lys1853=)
c.5676G>A (p.Lys1892=)
c.5562G>A (p.Lys1854=)
c.5625G>A (p.Lys1875=)
c.5673G>A (p.Lys1891=)
c.5655G>A (p.Lys1885=)
c.5583G>A (p.Lys1861=)
c.5610G>A (p.Lys1870=)
c.5613G>A (p.Lys1871=)
c.5652G>A (p.Lys1884=)
c.5622G>A (p.Lys1874=)
n.2444G>A
c.5517G>A (p.Lys1839=)
c.5580G>A (p.Lys1860=)
c.5520G>A (p.Lys1840=)
c.5718G>A (p.Lys1906=)
c.5715G>A (p.Lys1905=)
2g.71669638G>CCA347223540DYSFc.3090G>C (p.Lys1030Asn)
c.2307G>C (p.Lys769Asn)
c.2415G>C (p.Lys805Asn)
c.5559G>C (p.Lys1853Asn)
c.5676G>C (p.Lys1892Asn)
c.5562G>C (p.Lys1854Asn)
c.5625G>C (p.Lys1875Asn)
c.5673G>C (p.Lys1891Asn)
c.5655G>C (p.Lys1885Asn)
c.5583G>C (p.Lys1861Asn)
c.5610G>C (p.Lys1870Asn)
c.5613G>C (p.Lys1871Asn)
c.5652G>C (p.Lys1884Asn)
c.5622G>C (p.Lys1874Asn)
n.2444G>C
c.5517G>C (p.Lys1839Asn)
c.5580G>C (p.Lys1860Asn)
c.5520G>C (p.Lys1840Asn)
c.5718G>C (p.Lys1906Asn)
c.5715G>C (p.Lys1905Asn)

Number of alleles fetched