Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71665252_71665267delCA2582342400DYSFc.2679_2694del (p.Tyr893Ter)
c.1896_1911del (p.Tyr632Ter)
c.2004_2019del (p.Tyr668Ter)
c.5148_5163del (p.Tyr1716Ter)
c.5265_5280del (p.Tyr1755Ter)
c.5151_5166del (p.Tyr1717Ter)
c.5214_5229del (p.Tyr1738Ter)
c.5262_5277del (p.Tyr1754Ter)
c.5244_5259del (p.Tyr1748Ter)
c.5172_5187del (p.Tyr1724Ter)
c.5199_5214del (p.Tyr1733Ter)
c.5202_5217del (p.Tyr1734Ter)
c.5241_5256del (p.Tyr1747Ter)
c.5211_5226del (p.Tyr1737Ter)
n.2033_2048del
c.5106_5121del (p.Tyr1702Ter)
c.5169_5184del (p.Tyr1723Ter)
c.5109_5124del (p.Tyr1703Ter)
c.5307_5322del (p.Tyr1769Ter)
c.5304_5319del (p.Tyr1768Ter)
n.5663_5678del
 ClinVar
2g.71665256A=CA1260150190DYSFc.2683A= (p.Thr895=)
c.1900A= (p.Thr634=)
c.2008A= (p.Thr670=)
c.5152A= (p.Thr1718=)
c.5269A= (p.Thr1757=)
c.5155A= (p.Thr1719=)
c.5218A= (p.Thr1740=)
c.5266A= (p.Thr1756=)
c.5248A= (p.Thr1750=)
c.5176A= (p.Thr1726=)
c.5203A= (p.Thr1735=)
c.5206A= (p.Thr1736=)
c.5245A= (p.Thr1749=)
c.5215A= (p.Thr1739=)
n.2037A=
c.5110A= (p.Thr1704=)
c.5173A= (p.Thr1725=)
c.5113A= (p.Thr1705=)
c.5311A= (p.Thr1771=)
c.5308A= (p.Thr1770=)
n.5667A=
2g.71665256A>CCA1707307DYSFc.2683A>C (p.Thr895Pro)
c.1900A>C (p.Thr634Pro)
c.2008A>C (p.Thr670Pro)
c.5152A>C (p.Thr1718Pro)
c.5269A>C (p.Thr1757Pro)
c.5155A>C (p.Thr1719Pro)
c.5218A>C (p.Thr1740Pro)
c.5266A>C (p.Thr1756Pro)
c.5248A>C (p.Thr1750Pro)
c.5176A>C (p.Thr1726Pro)
c.5203A>C (p.Thr1735Pro)
c.5206A>C (p.Thr1736Pro)
c.5245A>C (p.Thr1749Pro)
c.5215A>C (p.Thr1739Pro)
n.2037A>C
c.5110A>C (p.Thr1704Pro)
c.5173A>C (p.Thr1725Pro)
c.5113A>C (p.Thr1705Pro)
c.5311A>C (p.Thr1771Pro)
c.5308A>C (p.Thr1770Pro)
n.5667A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665256A>GCA347221087DYSFc.2683A>G (p.Thr895Ala)
c.1900A>G (p.Thr634Ala)
c.2008A>G (p.Thr670Ala)
c.5152A>G (p.Thr1718Ala)
c.5269A>G (p.Thr1757Ala)
c.5155A>G (p.Thr1719Ala)
c.5218A>G (p.Thr1740Ala)
c.5266A>G (p.Thr1756Ala)
c.5248A>G (p.Thr1750Ala)
c.5176A>G (p.Thr1726Ala)
c.5203A>G (p.Thr1735Ala)
c.5206A>G (p.Thr1736Ala)
c.5245A>G (p.Thr1749Ala)
c.5215A>G (p.Thr1739Ala)
n.2037A>G
c.5110A>G (p.Thr1704Ala)
c.5173A>G (p.Thr1725Ala)
c.5113A>G (p.Thr1705Ala)
c.5311A>G (p.Thr1771Ala)
c.5308A>G (p.Thr1770Ala)
n.5667A>G
2g.71665256A>TCA347221088DYSFc.2683A>T (p.Thr895Ser)
c.1900A>T (p.Thr634Ser)
c.2008A>T (p.Thr670Ser)
c.5152A>T (p.Thr1718Ser)
c.5269A>T (p.Thr1757Ser)
c.5155A>T (p.Thr1719Ser)
c.5218A>T (p.Thr1740Ser)
c.5266A>T (p.Thr1756Ser)
c.5248A>T (p.Thr1750Ser)
c.5176A>T (p.Thr1726Ser)
c.5203A>T (p.Thr1735Ser)
c.5206A>T (p.Thr1736Ser)
c.5245A>T (p.Thr1749Ser)
c.5215A>T (p.Thr1739Ser)
n.2037A>T
c.5110A>T (p.Thr1704Ser)
c.5173A>T (p.Thr1725Ser)
c.5113A>T (p.Thr1705Ser)
c.5311A>T (p.Thr1771Ser)
c.5308A>T (p.Thr1770Ser)
n.5667A>T
2g.71665256dupCA2544521520DYSFc.2683dup (p.Thr895AsnfsTer9)
c.1900dup (p.Thr634AsnfsTer9)
c.2008dup (p.Thr670AsnfsTer9)
c.5152dup (p.Thr1718AsnfsTer9)
c.5269dup (p.Thr1757AsnfsTer9)
c.5155dup (p.Thr1719AsnfsTer9)
c.5218dup (p.Thr1740AsnfsTer9)
c.5266dup (p.Thr1756AsnfsTer9)
c.5248dup (p.Thr1750AsnfsTer9)
c.5176dup (p.Thr1726AsnfsTer9)
c.5203dup (p.Thr1735AsnfsTer9)
c.5206dup (p.Thr1736AsnfsTer9)
c.5245dup (p.Thr1749AsnfsTer9)
c.5215dup (p.Thr1739AsnfsTer9)
n.2037dup
c.5110dup (p.Thr1704AsnfsTer9)
c.5173dup (p.Thr1725AsnfsTer9)
c.5113dup (p.Thr1705AsnfsTer9)
c.5311dup (p.Thr1771AsnfsTer9)
c.5308dup (p.Thr1770AsnfsTer9)
n.5667dup
2g.71665257C>ACA347221089DYSFc.2684C>A (p.Thr895Lys)
c.1901C>A (p.Thr634Lys)
c.2009C>A (p.Thr670Lys)
c.5153C>A (p.Thr1718Lys)
c.5270C>A (p.Thr1757Lys)
c.5156C>A (p.Thr1719Lys)
c.5219C>A (p.Thr1740Lys)
c.5267C>A (p.Thr1756Lys)
c.5249C>A (p.Thr1750Lys)
c.5177C>A (p.Thr1726Lys)
c.5204C>A (p.Thr1735Lys)
c.5207C>A (p.Thr1736Lys)
c.5246C>A (p.Thr1749Lys)
c.5216C>A (p.Thr1739Lys)
n.2038C>A
c.5111C>A (p.Thr1704Lys)
c.5174C>A (p.Thr1725Lys)
c.5114C>A (p.Thr1705Lys)
c.5312C>A (p.Thr1771Lys)
c.5309C>A (p.Thr1770Lys)
n.5668C>A
2g.71665257C>GCA347221090DYSFc.2684C>G (p.Thr895Arg)
c.1901C>G (p.Thr634Arg)
c.2009C>G (p.Thr670Arg)
c.5153C>G (p.Thr1718Arg)
c.5270C>G (p.Thr1757Arg)
c.5156C>G (p.Thr1719Arg)
c.5219C>G (p.Thr1740Arg)
c.5267C>G (p.Thr1756Arg)
c.5249C>G (p.Thr1750Arg)
c.5177C>G (p.Thr1726Arg)
c.5204C>G (p.Thr1735Arg)
c.5207C>G (p.Thr1736Arg)
c.5246C>G (p.Thr1749Arg)
c.5216C>G (p.Thr1739Arg)
n.2038C>G
c.5111C>G (p.Thr1704Arg)
c.5174C>G (p.Thr1725Arg)
c.5114C>G (p.Thr1705Arg)
c.5312C>G (p.Thr1771Arg)
c.5309C>G (p.Thr1770Arg)
n.5668C>G
2g.71665257C>TCA347221091DYSFc.2684C>T (p.Thr895Ile)
c.1901C>T (p.Thr634Ile)
c.2009C>T (p.Thr670Ile)
c.5153C>T (p.Thr1718Ile)
c.5270C>T (p.Thr1757Ile)
c.5156C>T (p.Thr1719Ile)
c.5219C>T (p.Thr1740Ile)
c.5267C>T (p.Thr1756Ile)
c.5249C>T (p.Thr1750Ile)
c.5177C>T (p.Thr1726Ile)
c.5204C>T (p.Thr1735Ile)
c.5207C>T (p.Thr1736Ile)
c.5246C>T (p.Thr1749Ile)
c.5216C>T (p.Thr1739Ile)
n.2038C>T
c.5111C>T (p.Thr1704Ile)
c.5174C>T (p.Thr1725Ile)
c.5114C>T (p.Thr1705Ile)
c.5312C>T (p.Thr1771Ile)
c.5309C>T (p.Thr1770Ile)
n.5668C>T
2g.71665258A>CCA426704069DYSFc.2685A>C (p.Thr895=)
c.1902A>C (p.Thr634=)
c.2010A>C (p.Thr670=)
c.5154A>C (p.Thr1718=)
c.5271A>C (p.Thr1757=)
c.5157A>C (p.Thr1719=)
c.5220A>C (p.Thr1740=)
c.5268A>C (p.Thr1756=)
c.5250A>C (p.Thr1750=)
c.5178A>C (p.Thr1726=)
c.5205A>C (p.Thr1735=)
c.5208A>C (p.Thr1736=)
c.5247A>C (p.Thr1749=)
c.5217A>C (p.Thr1739=)
n.2039A>C
c.5112A>C (p.Thr1704=)
c.5175A>C (p.Thr1725=)
c.5115A>C (p.Thr1705=)
c.5313A>C (p.Thr1771=)
c.5310A>C (p.Thr1770=)
n.5669A>C
2g.71665258A>GCA426704070DYSFc.2685A>G (p.Thr895=)
c.1902A>G (p.Thr634=)
c.2010A>G (p.Thr670=)
c.5154A>G (p.Thr1718=)
c.5271A>G (p.Thr1757=)
c.5157A>G (p.Thr1719=)
c.5220A>G (p.Thr1740=)
c.5268A>G (p.Thr1756=)
c.5250A>G (p.Thr1750=)
c.5178A>G (p.Thr1726=)
c.5205A>G (p.Thr1735=)
c.5208A>G (p.Thr1736=)
c.5247A>G (p.Thr1749=)
c.5217A>G (p.Thr1739=)
n.2039A>G
c.5112A>G (p.Thr1704=)
c.5175A>G (p.Thr1725=)
c.5115A>G (p.Thr1705=)
c.5313A>G (p.Thr1771=)
c.5310A>G (p.Thr1770=)
n.5669A>G
2g.71665258A>TCA426704071DYSFc.2685A>T (p.Thr895=)
c.1902A>T (p.Thr634=)
c.2010A>T (p.Thr670=)
c.5154A>T (p.Thr1718=)
c.5271A>T (p.Thr1757=)
c.5157A>T (p.Thr1719=)
c.5220A>T (p.Thr1740=)
c.5268A>T (p.Thr1756=)
c.5250A>T (p.Thr1750=)
c.5178A>T (p.Thr1726=)
c.5205A>T (p.Thr1735=)
c.5208A>T (p.Thr1736=)
c.5247A>T (p.Thr1749=)
c.5217A>T (p.Thr1739=)
n.2039A>T
c.5112A>T (p.Thr1704=)
c.5175A>T (p.Thr1725=)
c.5115A>T (p.Thr1705=)
c.5313A>T (p.Thr1771=)
c.5310A>T (p.Thr1770=)
n.5669A>T
2g.71665259G>ACA347221092DYSFc.2686G>A (p.Asp896Asn)
c.1903G>A (p.Asp635Asn)
c.2011G>A (p.Asp671Asn)
c.5155G>A (p.Asp1719Asn)
c.5272G>A (p.Asp1758Asn)
c.5158G>A (p.Asp1720Asn)
c.5221G>A (p.Asp1741Asn)
c.5269G>A (p.Asp1757Asn)
c.5251G>A (p.Asp1751Asn)
c.5179G>A (p.Asp1727Asn)
c.5206G>A (p.Asp1736Asn)
c.5209G>A (p.Asp1737Asn)
c.5248G>A (p.Asp1750Asn)
c.5218G>A (p.Asp1740Asn)
n.2040G>A
c.5113G>A (p.Asp1705Asn)
c.5176G>A (p.Asp1726Asn)
c.5116G>A (p.Asp1706Asn)
c.5314G>A (p.Asp1772Asn)
c.5311G>A (p.Asp1771Asn)
n.5670G>A
2g.71665259G>CCA347221093DYSFc.2686G>C (p.Asp896His)
c.1903G>C (p.Asp635His)
c.2011G>C (p.Asp671His)
c.5155G>C (p.Asp1719His)
c.5272G>C (p.Asp1758His)
c.5158G>C (p.Asp1720His)
c.5221G>C (p.Asp1741His)
c.5269G>C (p.Asp1757His)
c.5251G>C (p.Asp1751His)
c.5179G>C (p.Asp1727His)
c.5206G>C (p.Asp1736His)
c.5209G>C (p.Asp1737His)
c.5248G>C (p.Asp1750His)
c.5218G>C (p.Asp1740His)
n.2040G>C
c.5113G>C (p.Asp1705His)
c.5176G>C (p.Asp1726His)
c.5116G>C (p.Asp1706His)
c.5314G>C (p.Asp1772His)
c.5311G>C (p.Asp1771His)
n.5670G>C
2g.71665259G>TCA347221094DYSFc.2686G>T (p.Asp896Tyr)
c.1903G>T (p.Asp635Tyr)
c.2011G>T (p.Asp671Tyr)
c.5155G>T (p.Asp1719Tyr)
c.5272G>T (p.Asp1758Tyr)
c.5158G>T (p.Asp1720Tyr)
c.5221G>T (p.Asp1741Tyr)
c.5269G>T (p.Asp1757Tyr)
c.5251G>T (p.Asp1751Tyr)
c.5179G>T (p.Asp1727Tyr)
c.5206G>T (p.Asp1736Tyr)
c.5209G>T (p.Asp1737Tyr)
c.5248G>T (p.Asp1750Tyr)
c.5218G>T (p.Asp1740Tyr)
n.2040G>T
c.5113G>T (p.Asp1705Tyr)
c.5176G>T (p.Asp1726Tyr)
c.5116G>T (p.Asp1706Tyr)
c.5314G>T (p.Asp1772Tyr)
c.5311G>T (p.Asp1771Tyr)
n.5670G>T
2g.71665260A>CCA347221095DYSFc.2687A>C (p.Asp896Ala)
c.1904A>C (p.Asp635Ala)
c.2012A>C (p.Asp671Ala)
c.5156A>C (p.Asp1719Ala)
c.5273A>C (p.Asp1758Ala)
c.5159A>C (p.Asp1720Ala)
c.5222A>C (p.Asp1741Ala)
c.5270A>C (p.Asp1757Ala)
c.5252A>C (p.Asp1751Ala)
c.5180A>C (p.Asp1727Ala)
c.5207A>C (p.Asp1736Ala)
c.5210A>C (p.Asp1737Ala)
c.5249A>C (p.Asp1750Ala)
c.5219A>C (p.Asp1740Ala)
n.2041A>C
c.5114A>C (p.Asp1705Ala)
c.5177A>C (p.Asp1726Ala)
c.5117A>C (p.Asp1706Ala)
c.5315A>C (p.Asp1772Ala)
c.5312A>C (p.Asp1771Ala)
n.5671A>C
2g.71665260A>GCA347221096DYSFc.2687A>G (p.Asp896Gly)
c.1904A>G (p.Asp635Gly)
c.2012A>G (p.Asp671Gly)
c.5156A>G (p.Asp1719Gly)
c.5273A>G (p.Asp1758Gly)
c.5159A>G (p.Asp1720Gly)
c.5222A>G (p.Asp1741Gly)
c.5270A>G (p.Asp1757Gly)
c.5252A>G (p.Asp1751Gly)
c.5180A>G (p.Asp1727Gly)
c.5207A>G (p.Asp1736Gly)
c.5210A>G (p.Asp1737Gly)
c.5249A>G (p.Asp1750Gly)
c.5219A>G (p.Asp1740Gly)
n.2041A>G
c.5114A>G (p.Asp1705Gly)
c.5177A>G (p.Asp1726Gly)
c.5117A>G (p.Asp1706Gly)
c.5315A>G (p.Asp1772Gly)
c.5312A>G (p.Asp1771Gly)
n.5671A>G
2g.71665260A>TCA347221097DYSFc.2687A>T (p.Asp896Val)
c.1904A>T (p.Asp635Val)
c.2012A>T (p.Asp671Val)
c.5156A>T (p.Asp1719Val)
c.5273A>T (p.Asp1758Val)
c.5159A>T (p.Asp1720Val)
c.5222A>T (p.Asp1741Val)
c.5270A>T (p.Asp1757Val)
c.5252A>T (p.Asp1751Val)
c.5180A>T (p.Asp1727Val)
c.5207A>T (p.Asp1736Val)
c.5210A>T (p.Asp1737Val)
c.5249A>T (p.Asp1750Val)
c.5219A>T (p.Asp1740Val)
n.2041A>T
c.5114A>T (p.Asp1705Val)
c.5177A>T (p.Asp1726Val)
c.5117A>T (p.Asp1706Val)
c.5315A>T (p.Asp1772Val)
c.5312A>T (p.Asp1771Val)
n.5671A>T
2g.71665261C>ACA347221098DYSFc.2688C>A (p.Asp896Glu)
c.1905C>A (p.Asp635Glu)
c.2013C>A (p.Asp671Glu)
c.5157C>A (p.Asp1719Glu)
c.5274C>A (p.Asp1758Glu)
c.5160C>A (p.Asp1720Glu)
c.5223C>A (p.Asp1741Glu)
c.5271C>A (p.Asp1757Glu)
c.5253C>A (p.Asp1751Glu)
c.5181C>A (p.Asp1727Glu)
c.5208C>A (p.Asp1736Glu)
c.5211C>A (p.Asp1737Glu)
c.5250C>A (p.Asp1750Glu)
c.5220C>A (p.Asp1740Glu)
n.2042C>A
c.5115C>A (p.Asp1705Glu)
c.5178C>A (p.Asp1726Glu)
c.5118C>A (p.Asp1706Glu)
c.5316C>A (p.Asp1772Glu)
c.5313C>A (p.Asp1771Glu)
n.5672C>A
 dbSNP gnomAD v4
2g.71665261C=CA1260150191DYSFc.2688C= (p.Asp896=)
c.1905C= (p.Asp635=)
c.2013C= (p.Asp671=)
c.5157C= (p.Asp1719=)
c.5274C= (p.Asp1758=)
c.5160C= (p.Asp1720=)
c.5223C= (p.Asp1741=)
c.5271C= (p.Asp1757=)
c.5253C= (p.Asp1751=)
c.5181C= (p.Asp1727=)
c.5208C= (p.Asp1736=)
c.5211C= (p.Asp1737=)
c.5250C= (p.Asp1750=)
c.5220C= (p.Asp1740=)
n.2042C=
c.5115C= (p.Asp1705=)
c.5178C= (p.Asp1726=)
c.5118C= (p.Asp1706=)
c.5316C= (p.Asp1772=)
c.5313C= (p.Asp1771=)
n.5672C=
2g.71665261C>GCA347221099DYSFc.2688C>G (p.Asp896Glu)
c.1905C>G (p.Asp635Glu)
c.2013C>G (p.Asp671Glu)
c.5157C>G (p.Asp1719Glu)
c.5274C>G (p.Asp1758Glu)
c.5160C>G (p.Asp1720Glu)
c.5223C>G (p.Asp1741Glu)
c.5271C>G (p.Asp1757Glu)
c.5253C>G (p.Asp1751Glu)
c.5181C>G (p.Asp1727Glu)
c.5208C>G (p.Asp1736Glu)
c.5211C>G (p.Asp1737Glu)
c.5250C>G (p.Asp1750Glu)
c.5220C>G (p.Asp1740Glu)
n.2042C>G
c.5115C>G (p.Asp1705Glu)
c.5178C>G (p.Asp1726Glu)
c.5118C>G (p.Asp1706Glu)
c.5316C>G (p.Asp1772Glu)
c.5313C>G (p.Asp1771Glu)
n.5672C>G
2g.71665261C>TCA426704072DYSFc.2688C>T (p.Asp896=)
c.1905C>T (p.Asp635=)
c.2013C>T (p.Asp671=)
c.5157C>T (p.Asp1719=)
c.5274C>T (p.Asp1758=)
c.5160C>T (p.Asp1720=)
c.5223C>T (p.Asp1741=)
c.5271C>T (p.Asp1757=)
c.5253C>T (p.Asp1751=)
c.5181C>T (p.Asp1727=)
c.5208C>T (p.Asp1736=)
c.5211C>T (p.Asp1737=)
c.5250C>T (p.Asp1750=)
c.5220C>T (p.Asp1740=)
n.2042C>T
c.5115C>T (p.Asp1705=)
c.5178C>T (p.Asp1726=)
c.5118C>T (p.Asp1706=)
c.5316C>T (p.Asp1772=)
c.5313C>T (p.Asp1771=)
n.5672C>T
2g.71665262C>ACA347221101DYSFc.2689C>A (p.Arg897Ser)
c.1906C>A (p.Arg636Ser)
c.2014C>A (p.Arg672Ser)
c.5158C>A (p.Arg1720Ser)
c.5275C>A (p.Arg1759Ser)
c.5161C>A (p.Arg1721Ser)
c.5224C>A (p.Arg1742Ser)
c.5272C>A (p.Arg1758Ser)
c.5254C>A (p.Arg1752Ser)
c.5182C>A (p.Arg1728Ser)
c.5209C>A (p.Arg1737Ser)
c.5212C>A (p.Arg1738Ser)
c.5251C>A (p.Arg1751Ser)
c.5221C>A (p.Arg1741Ser)
n.2043C>A
c.5116C>A (p.Arg1706Ser)
c.5179C>A (p.Arg1727Ser)
c.5119C>A (p.Arg1707Ser)
c.5317C>A (p.Arg1773Ser)
c.5314C>A (p.Arg1772Ser)
n.5673C>A
2g.71665262C=CA1260150192DYSFc.2689C= (p.Arg897=)
c.1906C= (p.Arg636=)
c.2014C= (p.Arg672=)
c.5158C= (p.Arg1720=)
c.5275C= (p.Arg1759=)
c.5161C= (p.Arg1721=)
c.5224C= (p.Arg1742=)
c.5272C= (p.Arg1758=)
c.5254C= (p.Arg1752=)
c.5182C= (p.Arg1728=)
c.5209C= (p.Arg1737=)
c.5212C= (p.Arg1738=)
c.5251C= (p.Arg1751=)
c.5221C= (p.Arg1741=)
n.2043C=
c.5116C= (p.Arg1706=)
c.5179C= (p.Arg1727=)
c.5119C= (p.Arg1707=)
c.5317C= (p.Arg1773=)
c.5314C= (p.Arg1772=)
n.5673C=
2g.71665262C>GCA347221100DYSFc.2689C>G (p.Arg897Gly)
c.1906C>G (p.Arg636Gly)
c.2014C>G (p.Arg672Gly)
c.5158C>G (p.Arg1720Gly)
c.5275C>G (p.Arg1759Gly)
c.5161C>G (p.Arg1721Gly)
c.5224C>G (p.Arg1742Gly)
c.5272C>G (p.Arg1758Gly)
c.5254C>G (p.Arg1752Gly)
c.5182C>G (p.Arg1728Gly)
c.5209C>G (p.Arg1737Gly)
c.5212C>G (p.Arg1738Gly)
c.5251C>G (p.Arg1751Gly)
c.5221C>G (p.Arg1741Gly)
n.2043C>G
c.5116C>G (p.Arg1706Gly)
c.5179C>G (p.Arg1727Gly)
c.5119C>G (p.Arg1707Gly)
c.5317C>G (p.Arg1773Gly)
c.5314C>G (p.Arg1772Gly)
n.5673C>G
 dbSNP
2g.71665262C>TCA1707308DYSFc.2689C>T (p.Arg897Cys)
c.1906C>T (p.Arg636Cys)
c.2014C>T (p.Arg672Cys)
c.5158C>T (p.Arg1720Cys)
c.5275C>T (p.Arg1759Cys)
c.5161C>T (p.Arg1721Cys)
c.5224C>T (p.Arg1742Cys)
c.5272C>T (p.Arg1758Cys)
c.5254C>T (p.Arg1752Cys)
c.5182C>T (p.Arg1728Cys)
c.5209C>T (p.Arg1737Cys)
c.5212C>T (p.Arg1738Cys)
c.5251C>T (p.Arg1751Cys)
c.5221C>T (p.Arg1741Cys)
n.2043C>T
c.5116C>T (p.Arg1706Cys)
c.5179C>T (p.Arg1727Cys)
c.5119C>T (p.Arg1707Cys)
c.5317C>T (p.Arg1773Cys)
c.5314C>T (p.Arg1772Cys)
n.5673C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71665263delCA2586969535DYSFc.2690del (p.Arg897LeufsTer2)
c.1907del (p.Arg636LeufsTer2)
c.2015del (p.Arg672LeufsTer2)
c.5159del (p.Arg1720LeufsTer2)
c.5276del (p.Arg1759LeufsTer2)
c.5162del (p.Arg1721LeufsTer2)
c.5225del (p.Arg1742LeufsTer2)
c.5273del (p.Arg1758LeufsTer2)
c.5255del (p.Arg1752LeufsTer2)
c.5183del (p.Arg1728LeufsTer2)
c.5210del (p.Arg1737LeufsTer2)
c.5213del (p.Arg1738LeufsTer2)
c.5252del (p.Arg1751LeufsTer2)
c.5222del (p.Arg1741LeufsTer2)
n.2044del
c.5117del (p.Arg1706LeufsTer2)
c.5180del (p.Arg1727LeufsTer2)
c.5120del (p.Arg1707LeufsTer2)
c.5318del (p.Arg1773LeufsTer2)
c.5315del (p.Arg1772LeufsTer2)
n.5674del
2g.71665263G>ACA1707309DYSFc.2690G>A (p.Arg897His)
c.1907G>A (p.Arg636His)
c.2015G>A (p.Arg672His)
c.5159G>A (p.Arg1720His)
c.5276G>A (p.Arg1759His)
c.5162G>A (p.Arg1721His)
c.5225G>A (p.Arg1742His)
c.5273G>A (p.Arg1758His)
c.5255G>A (p.Arg1752His)
c.5183G>A (p.Arg1728His)
c.5210G>A (p.Arg1737His)
c.5213G>A (p.Arg1738His)
c.5252G>A (p.Arg1751His)
c.5222G>A (p.Arg1741His)
n.2044G>A
c.5117G>A (p.Arg1706His)
c.5180G>A (p.Arg1727His)
c.5120G>A (p.Arg1707His)
c.5318G>A (p.Arg1773His)
c.5315G>A (p.Arg1772His)
n.5674G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71665263G>CCA347221103DYSFc.2690G>C (p.Arg897Pro)
c.1907G>C (p.Arg636Pro)
c.2015G>C (p.Arg672Pro)
c.5159G>C (p.Arg1720Pro)
c.5276G>C (p.Arg1759Pro)
c.5162G>C (p.Arg1721Pro)
c.5225G>C (p.Arg1742Pro)
c.5273G>C (p.Arg1758Pro)
c.5255G>C (p.Arg1752Pro)
c.5183G>C (p.Arg1728Pro)
c.5210G>C (p.Arg1737Pro)
c.5213G>C (p.Arg1738Pro)
c.5252G>C (p.Arg1751Pro)
c.5222G>C (p.Arg1741Pro)
n.2044G>C
c.5117G>C (p.Arg1706Pro)
c.5180G>C (p.Arg1727Pro)
c.5120G>C (p.Arg1707Pro)
c.5318G>C (p.Arg1773Pro)
c.5315G>C (p.Arg1772Pro)
n.5674G>C
2g.71665263G=CA1260150193DYSFc.2690G= (p.Arg897=)
c.1907G= (p.Arg636=)
c.2015G= (p.Arg672=)
c.5159G= (p.Arg1720=)
c.5276G= (p.Arg1759=)
c.5162G= (p.Arg1721=)
c.5225G= (p.Arg1742=)
c.5273G= (p.Arg1758=)
c.5255G= (p.Arg1752=)
c.5183G= (p.Arg1728=)
c.5210G= (p.Arg1737=)
c.5213G= (p.Arg1738=)
c.5252G= (p.Arg1751=)
c.5222G= (p.Arg1741=)
n.2044G=
c.5117G= (p.Arg1706=)
c.5180G= (p.Arg1727=)
c.5120G= (p.Arg1707=)
c.5318G= (p.Arg1773=)
c.5315G= (p.Arg1772=)
n.5674G=
2g.71665263G>TCA347221102DYSFc.2690G>T (p.Arg897Leu)
c.1907G>T (p.Arg636Leu)
c.2015G>T (p.Arg672Leu)
c.5159G>T (p.Arg1720Leu)
c.5276G>T (p.Arg1759Leu)
c.5162G>T (p.Arg1721Leu)
c.5225G>T (p.Arg1742Leu)
c.5273G>T (p.Arg1758Leu)
c.5255G>T (p.Arg1752Leu)
c.5183G>T (p.Arg1728Leu)
c.5210G>T (p.Arg1737Leu)
c.5213G>T (p.Arg1738Leu)
c.5252G>T (p.Arg1751Leu)
c.5222G>T (p.Arg1741Leu)
n.2044G>T
c.5117G>T (p.Arg1706Leu)
c.5180G>T (p.Arg1727Leu)
c.5120G>T (p.Arg1707Leu)
c.5318G>T (p.Arg1773Leu)
c.5315G>T (p.Arg1772Leu)
n.5674G>T
 gnomAD v4
2g.71665264T>ACA426704074DYSFc.2691T>A (p.Arg897=)
c.1908T>A (p.Arg636=)
c.2016T>A (p.Arg672=)
c.5160T>A (p.Arg1720=)
c.5277T>A (p.Arg1759=)
c.5163T>A (p.Arg1721=)
c.5226T>A (p.Arg1742=)
c.5274T>A (p.Arg1758=)
c.5256T>A (p.Arg1752=)
c.5184T>A (p.Arg1728=)
c.5211T>A (p.Arg1737=)
c.5214T>A (p.Arg1738=)
c.5253T>A (p.Arg1751=)
c.5223T>A (p.Arg1741=)
n.2045T>A
c.5118T>A (p.Arg1706=)
c.5181T>A (p.Arg1727=)
c.5121T>A (p.Arg1707=)
c.5319T>A (p.Arg1773=)
c.5316T>A (p.Arg1772=)
n.5675T>A
2g.71665264T>CCA426704075DYSFc.2691T>C (p.Arg897=)
c.1908T>C (p.Arg636=)
c.2016T>C (p.Arg672=)
c.5160T>C (p.Arg1720=)
c.5277T>C (p.Arg1759=)
c.5163T>C (p.Arg1721=)
c.5226T>C (p.Arg1742=)
c.5274T>C (p.Arg1758=)
c.5256T>C (p.Arg1752=)
c.5184T>C (p.Arg1728=)
c.5211T>C (p.Arg1737=)
c.5214T>C (p.Arg1738=)
c.5253T>C (p.Arg1751=)
c.5223T>C (p.Arg1741=)
n.2045T>C
c.5118T>C (p.Arg1706=)
c.5181T>C (p.Arg1727=)
c.5121T>C (p.Arg1707=)
c.5319T>C (p.Arg1773=)
c.5316T>C (p.Arg1772=)
n.5675T>C
2g.71665264T>GCA426704073DYSFc.2691T>G (p.Arg897=)
c.1908T>G (p.Arg636=)
c.2016T>G (p.Arg672=)
c.5160T>G (p.Arg1720=)
c.5277T>G (p.Arg1759=)
c.5163T>G (p.Arg1721=)
c.5226T>G (p.Arg1742=)
c.5274T>G (p.Arg1758=)
c.5256T>G (p.Arg1752=)
c.5184T>G (p.Arg1728=)
c.5211T>G (p.Arg1737=)
c.5214T>G (p.Arg1738=)
c.5253T>G (p.Arg1751=)
c.5223T>G (p.Arg1741=)
n.2045T>G
c.5118T>G (p.Arg1706=)
c.5181T>G (p.Arg1727=)
c.5121T>G (p.Arg1707=)
c.5319T>G (p.Arg1773=)
c.5316T>G (p.Arg1772=)
n.5675T>G
2g.71665265G>ACA347221104DYSFc.2692G>A (p.Val898Ile)
c.1909G>A (p.Val637Ile)
c.2017G>A (p.Val673Ile)
c.5161G>A (p.Val1721Ile)
c.5278G>A (p.Val1760Ile)
c.5164G>A (p.Val1722Ile)
c.5227G>A (p.Val1743Ile)
c.5275G>A (p.Val1759Ile)
c.5257G>A (p.Val1753Ile)
c.5185G>A (p.Val1729Ile)
c.5212G>A (p.Val1738Ile)
c.5215G>A (p.Val1739Ile)
c.5254G>A (p.Val1752Ile)
c.5224G>A (p.Val1742Ile)
n.2046G>A
c.5119G>A (p.Val1707Ile)
c.5182G>A (p.Val1728Ile)
c.5122G>A (p.Val1708Ile)
c.5320G>A (p.Val1774Ile)
c.5317G>A (p.Val1773Ile)
n.5676G>A
 gnomAD v4
2g.71665265G>CCA347221106DYSFc.2692G>C (p.Val898Leu)
c.1909G>C (p.Val637Leu)
c.2017G>C (p.Val673Leu)
c.5161G>C (p.Val1721Leu)
c.5278G>C (p.Val1760Leu)
c.5164G>C (p.Val1722Leu)
c.5227G>C (p.Val1743Leu)
c.5275G>C (p.Val1759Leu)
c.5257G>C (p.Val1753Leu)
c.5185G>C (p.Val1729Leu)
c.5212G>C (p.Val1738Leu)
c.5215G>C (p.Val1739Leu)
c.5254G>C (p.Val1752Leu)
c.5224G>C (p.Val1742Leu)
n.2046G>C
c.5119G>C (p.Val1707Leu)
c.5182G>C (p.Val1728Leu)
c.5122G>C (p.Val1708Leu)
c.5320G>C (p.Val1774Leu)
c.5317G>C (p.Val1773Leu)
n.5676G>C
2g.71665265G>TCA347221105DYSFc.2692G>T (p.Val898Leu)
c.1909G>T (p.Val637Leu)
c.2017G>T (p.Val673Leu)
c.5161G>T (p.Val1721Leu)
c.5278G>T (p.Val1760Leu)
c.5164G>T (p.Val1722Leu)
c.5227G>T (p.Val1743Leu)
c.5275G>T (p.Val1759Leu)
c.5257G>T (p.Val1753Leu)
c.5185G>T (p.Val1729Leu)
c.5212G>T (p.Val1738Leu)
c.5215G>T (p.Val1739Leu)
c.5254G>T (p.Val1752Leu)
c.5224G>T (p.Val1742Leu)
n.2046G>T
c.5119G>T (p.Val1707Leu)
c.5182G>T (p.Val1728Leu)
c.5122G>T (p.Val1708Leu)
c.5320G>T (p.Val1774Leu)
c.5317G>T (p.Val1773Leu)
n.5676G>T
2g.71665266T>ACA347221107DYSFc.2693T>A (p.Val898Glu)
c.1910T>A (p.Val637Glu)
c.2018T>A (p.Val673Glu)
c.5162T>A (p.Val1721Glu)
c.5279T>A (p.Val1760Glu)
c.5165T>A (p.Val1722Glu)
c.5228T>A (p.Val1743Glu)
c.5276T>A (p.Val1759Glu)
c.5258T>A (p.Val1753Glu)
c.5186T>A (p.Val1729Glu)
c.5213T>A (p.Val1738Glu)
c.5216T>A (p.Val1739Glu)
c.5255T>A (p.Val1752Glu)
c.5225T>A (p.Val1742Glu)
n.2047T>A
c.5120T>A (p.Val1707Glu)
c.5183T>A (p.Val1728Glu)
c.5123T>A (p.Val1708Glu)
c.5321T>A (p.Val1774Glu)
c.5318T>A (p.Val1773Glu)
n.5677T>A
2g.71665266T>CCA347221109DYSFc.2693T>C (p.Val898Ala)
c.1910T>C (p.Val637Ala)
c.2018T>C (p.Val673Ala)
c.5162T>C (p.Val1721Ala)
c.5279T>C (p.Val1760Ala)
c.5165T>C (p.Val1722Ala)
c.5228T>C (p.Val1743Ala)
c.5276T>C (p.Val1759Ala)
c.5258T>C (p.Val1753Ala)
c.5186T>C (p.Val1729Ala)
c.5213T>C (p.Val1738Ala)
c.5216T>C (p.Val1739Ala)
c.5255T>C (p.Val1752Ala)
c.5225T>C (p.Val1742Ala)
n.2047T>C
c.5120T>C (p.Val1707Ala)
c.5183T>C (p.Val1728Ala)
c.5123T>C (p.Val1708Ala)
c.5321T>C (p.Val1774Ala)
c.5318T>C (p.Val1773Ala)
n.5677T>C
2g.71665266T>GCA347221108DYSFc.2693T>G (p.Val898Gly)
c.1910T>G (p.Val637Gly)
c.2018T>G (p.Val673Gly)
c.5162T>G (p.Val1721Gly)
c.5279T>G (p.Val1760Gly)
c.5165T>G (p.Val1722Gly)
c.5228T>G (p.Val1743Gly)
c.5276T>G (p.Val1759Gly)
c.5258T>G (p.Val1753Gly)
c.5186T>G (p.Val1729Gly)
c.5213T>G (p.Val1738Gly)
c.5216T>G (p.Val1739Gly)
c.5255T>G (p.Val1752Gly)
c.5225T>G (p.Val1742Gly)
n.2047T>G
c.5120T>G (p.Val1707Gly)
c.5183T>G (p.Val1728Gly)
c.5123T>G (p.Val1708Gly)
c.5321T>G (p.Val1774Gly)
c.5318T>G (p.Val1773Gly)
n.5677T>G
2g.71665267A>CCA426704078DYSFc.2694A>C (p.Val898=)
c.1911A>C (p.Val637=)
c.2019A>C (p.Val673=)
c.5163A>C (p.Val1721=)
c.5280A>C (p.Val1760=)
c.5166A>C (p.Val1722=)
c.5229A>C (p.Val1743=)
c.5277A>C (p.Val1759=)
c.5259A>C (p.Val1753=)
c.5187A>C (p.Val1729=)
c.5214A>C (p.Val1738=)
c.5217A>C (p.Val1739=)
c.5256A>C (p.Val1752=)
c.5226A>C (p.Val1742=)
n.2048A>C
c.5121A>C (p.Val1707=)
c.5184A>C (p.Val1728=)
c.5124A>C (p.Val1708=)
c.5322A>C (p.Val1774=)
c.5319A>C (p.Val1773=)
n.5678A>C
2g.71665267A>GCA426704077DYSFc.2694A>G (p.Val898=)
c.1911A>G (p.Val637=)
c.2019A>G (p.Val673=)
c.5163A>G (p.Val1721=)
c.5280A>G (p.Val1760=)
c.5166A>G (p.Val1722=)
c.5229A>G (p.Val1743=)
c.5277A>G (p.Val1759=)
c.5259A>G (p.Val1753=)
c.5187A>G (p.Val1729=)
c.5214A>G (p.Val1738=)
c.5217A>G (p.Val1739=)
c.5256A>G (p.Val1752=)
c.5226A>G (p.Val1742=)
n.2048A>G
c.5121A>G (p.Val1707=)
c.5184A>G (p.Val1728=)
c.5124A>G (p.Val1708=)
c.5322A>G (p.Val1774=)
c.5319A>G (p.Val1773=)
n.5678A>G
2g.71665267A>TCA426704076DYSFc.2694A>T (p.Val898=)
c.1911A>T (p.Val637=)
c.2019A>T (p.Val673=)
c.5163A>T (p.Val1721=)
c.5280A>T (p.Val1760=)
c.5166A>T (p.Val1722=)
c.5229A>T (p.Val1743=)
c.5277A>T (p.Val1759=)
c.5259A>T (p.Val1753=)
c.5187A>T (p.Val1729=)
c.5214A>T (p.Val1738=)
c.5217A>T (p.Val1739=)
c.5256A>T (p.Val1752=)
c.5226A>T (p.Val1742=)
n.2048A>T
c.5121A>T (p.Val1707=)
c.5184A>T (p.Val1728=)
c.5124A>T (p.Val1708=)
c.5322A>T (p.Val1774=)
c.5319A>T (p.Val1773=)
n.5678A>T
2g.71665268A=CA1260150194DYSFc.2695A= (p.Met899=)
c.1912A= (p.Met638=)
c.2020A= (p.Met674=)
c.5164A= (p.Met1722=)
c.5281A= (p.Met1761=)
c.5167A= (p.Met1723=)
c.5230A= (p.Met1744=)
c.5278A= (p.Met1760=)
c.5260A= (p.Met1754=)
c.5188A= (p.Met1730=)
c.5215A= (p.Met1739=)
c.5218A= (p.Met1740=)
c.5257A= (p.Met1753=)
c.5227A= (p.Met1743=)
n.2049A=
c.5122A= (p.Met1708=)
c.5185A= (p.Met1729=)
c.5125A= (p.Met1709=)
c.5323A= (p.Met1775=)
c.5320A= (p.Met1774=)
n.5679A=
2g.71665268A>CCA347221110DYSFc.2695A>C (p.Met899Leu)
c.1912A>C (p.Met638Leu)
c.2020A>C (p.Met674Leu)
c.5164A>C (p.Met1722Leu)
c.5281A>C (p.Met1761Leu)
c.5167A>C (p.Met1723Leu)
c.5230A>C (p.Met1744Leu)
c.5278A>C (p.Met1760Leu)
c.5260A>C (p.Met1754Leu)
c.5188A>C (p.Met1730Leu)
c.5215A>C (p.Met1739Leu)
c.5218A>C (p.Met1740Leu)
c.5257A>C (p.Met1753Leu)
c.5227A>C (p.Met1743Leu)
n.2049A>C
c.5122A>C (p.Met1708Leu)
c.5185A>C (p.Met1729Leu)
c.5125A>C (p.Met1709Leu)
c.5323A>C (p.Met1775Leu)
c.5320A>C (p.Met1774Leu)
n.5679A>C
 dbSNP gnomAD v3 gnomAD v4
2g.71665268A>GCA347221111DYSFc.2695A>G (p.Met899Val)
c.1912A>G (p.Met638Val)
c.2020A>G (p.Met674Val)
c.5164A>G (p.Met1722Val)
c.5281A>G (p.Met1761Val)
c.5167A>G (p.Met1723Val)
c.5230A>G (p.Met1744Val)
c.5278A>G (p.Met1760Val)
c.5260A>G (p.Met1754Val)
c.5188A>G (p.Met1730Val)
c.5215A>G (p.Met1739Val)
c.5218A>G (p.Met1740Val)
c.5257A>G (p.Met1753Val)
c.5227A>G (p.Met1743Val)
n.2049A>G
c.5122A>G (p.Met1708Val)
c.5185A>G (p.Met1729Val)
c.5125A>G (p.Met1709Val)
c.5323A>G (p.Met1775Val)
c.5320A>G (p.Met1774Val)
n.5679A>G
2g.71665268A>TCA347221112DYSFc.2695A>T (p.Met899Leu)
c.1912A>T (p.Met638Leu)
c.2020A>T (p.Met674Leu)
c.5164A>T (p.Met1722Leu)
c.5281A>T (p.Met1761Leu)
c.5167A>T (p.Met1723Leu)
c.5230A>T (p.Met1744Leu)
c.5278A>T (p.Met1760Leu)
c.5260A>T (p.Met1754Leu)
c.5188A>T (p.Met1730Leu)
c.5215A>T (p.Met1739Leu)
c.5218A>T (p.Met1740Leu)
c.5257A>T (p.Met1753Leu)
c.5227A>T (p.Met1743Leu)
n.2049A>T
c.5122A>T (p.Met1708Leu)
c.5185A>T (p.Met1729Leu)
c.5125A>T (p.Met1709Leu)
c.5323A>T (p.Met1775Leu)
c.5320A>T (p.Met1774Leu)
n.5679A>T
2g.71665269T>ACA347221113DYSFc.2696T>A (p.Met899Lys)
c.1913T>A (p.Met638Lys)
c.2021T>A (p.Met674Lys)
c.5165T>A (p.Met1722Lys)
c.5282T>A (p.Met1761Lys)
c.5168T>A (p.Met1723Lys)
c.5231T>A (p.Met1744Lys)
c.5279T>A (p.Met1760Lys)
c.5261T>A (p.Met1754Lys)
c.5189T>A (p.Met1730Lys)
c.5216T>A (p.Met1739Lys)
c.5219T>A (p.Met1740Lys)
c.5258T>A (p.Met1753Lys)
c.5228T>A (p.Met1743Lys)
n.2050T>A
c.5123T>A (p.Met1708Lys)
c.5186T>A (p.Met1729Lys)
c.5126T>A (p.Met1709Lys)
c.5324T>A (p.Met1775Lys)
c.5321T>A (p.Met1774Lys)
n.5680T>A
2g.71665269T>CCA347221114DYSFc.2696T>C (p.Met899Thr)
c.1913T>C (p.Met638Thr)
c.2021T>C (p.Met674Thr)
c.5165T>C (p.Met1722Thr)
c.5282T>C (p.Met1761Thr)
c.5168T>C (p.Met1723Thr)
c.5231T>C (p.Met1744Thr)
c.5279T>C (p.Met1760Thr)
c.5261T>C (p.Met1754Thr)
c.5189T>C (p.Met1730Thr)
c.5216T>C (p.Met1739Thr)
c.5219T>C (p.Met1740Thr)
c.5258T>C (p.Met1753Thr)
c.5228T>C (p.Met1743Thr)
n.2050T>C
c.5123T>C (p.Met1708Thr)
c.5186T>C (p.Met1729Thr)
c.5126T>C (p.Met1709Thr)
c.5324T>C (p.Met1775Thr)
c.5321T>C (p.Met1774Thr)
n.5680T>C
 gnomAD v4
2g.71665269T>GCA347221115DYSFc.2696T>G (p.Met899Arg)
c.1913T>G (p.Met638Arg)
c.2021T>G (p.Met674Arg)
c.5165T>G (p.Met1722Arg)
c.5282T>G (p.Met1761Arg)
c.5168T>G (p.Met1723Arg)
c.5231T>G (p.Met1744Arg)
c.5279T>G (p.Met1760Arg)
c.5261T>G (p.Met1754Arg)
c.5189T>G (p.Met1730Arg)
c.5216T>G (p.Met1739Arg)
c.5219T>G (p.Met1740Arg)
c.5258T>G (p.Met1753Arg)
c.5228T>G (p.Met1743Arg)
n.2050T>G
c.5123T>G (p.Met1708Arg)
c.5186T>G (p.Met1729Arg)
c.5126T>G (p.Met1709Arg)
c.5324T>G (p.Met1775Arg)
c.5321T>G (p.Met1774Arg)
n.5680T>G
2g.71665270G>ACA347221116DYSFc.2697G>A (p.Met899Ile)
c.1914G>A (p.Met638Ile)
c.2022G>A (p.Met674Ile)
c.5166G>A (p.Met1722Ile)
c.5283G>A (p.Met1761Ile)
c.5169G>A (p.Met1723Ile)
c.5232G>A (p.Met1744Ile)
c.5280G>A (p.Met1760Ile)
c.5262G>A (p.Met1754Ile)
c.5190G>A (p.Met1730Ile)
c.5217G>A (p.Met1739Ile)
c.5220G>A (p.Met1740Ile)
c.5259G>A (p.Met1753Ile)
c.5229G>A (p.Met1743Ile)
n.2051G>A
c.5124G>A (p.Met1708Ile)
c.5187G>A (p.Met1729Ile)
c.5127G>A (p.Met1709Ile)
c.5325G>A (p.Met1775Ile)
c.5322G>A (p.Met1774Ile)
n.5681G>A
2g.71665270G>CCA347221117DYSFc.2697G>C (p.Met899Ile)
c.1914G>C (p.Met638Ile)
c.2022G>C (p.Met674Ile)
c.5166G>C (p.Met1722Ile)
c.5283G>C (p.Met1761Ile)
c.5169G>C (p.Met1723Ile)
c.5232G>C (p.Met1744Ile)
c.5280G>C (p.Met1760Ile)
c.5262G>C (p.Met1754Ile)
c.5190G>C (p.Met1730Ile)
c.5217G>C (p.Met1739Ile)
c.5220G>C (p.Met1740Ile)
c.5259G>C (p.Met1753Ile)
c.5229G>C (p.Met1743Ile)
n.2051G>C
c.5124G>C (p.Met1708Ile)
c.5187G>C (p.Met1729Ile)
c.5127G>C (p.Met1709Ile)
c.5325G>C (p.Met1775Ile)
c.5322G>C (p.Met1774Ile)
n.5681G>C
2g.71665270G>TCA347221118DYSFc.2697G>T (p.Met899Ile)
c.1914G>T (p.Met638Ile)
c.2022G>T (p.Met674Ile)
c.5166G>T (p.Met1722Ile)
c.5283G>T (p.Met1761Ile)
c.5169G>T (p.Met1723Ile)
c.5232G>T (p.Met1744Ile)
c.5280G>T (p.Met1760Ile)
c.5262G>T (p.Met1754Ile)
c.5190G>T (p.Met1730Ile)
c.5217G>T (p.Met1739Ile)
c.5220G>T (p.Met1740Ile)
c.5259G>T (p.Met1753Ile)
c.5229G>T (p.Met1743Ile)
n.2051G>T
c.5124G>T (p.Met1708Ile)
c.5187G>T (p.Met1729Ile)
c.5127G>T (p.Met1709Ile)
c.5325G>T (p.Met1775Ile)
c.5322G>T (p.Met1774Ile)
n.5681G>T
2g.71665271T>ACA347221119DYSFc.2698T>A (p.Phe900Ile)
c.1915T>A (p.Phe639Ile)
c.2023T>A (p.Phe675Ile)
c.5167T>A (p.Phe1723Ile)
c.5284T>A (p.Phe1762Ile)
c.5170T>A (p.Phe1724Ile)
c.5233T>A (p.Phe1745Ile)
c.5281T>A (p.Phe1761Ile)
c.5263T>A (p.Phe1755Ile)
c.5191T>A (p.Phe1731Ile)
c.5218T>A (p.Phe1740Ile)
c.5221T>A (p.Phe1741Ile)
c.5260T>A (p.Phe1754Ile)
c.5230T>A (p.Phe1744Ile)
n.2052T>A
c.5125T>A (p.Phe1709Ile)
c.5188T>A (p.Phe1730Ile)
c.5128T>A (p.Phe1710Ile)
c.5326T>A (p.Phe1776Ile)
c.5323T>A (p.Phe1775Ile)
n.5682T>A
2g.71665271T>CCA347221120DYSFc.2698T>C (p.Phe900Leu)
c.1915T>C (p.Phe639Leu)
c.2023T>C (p.Phe675Leu)
c.5167T>C (p.Phe1723Leu)
c.5284T>C (p.Phe1762Leu)
c.5170T>C (p.Phe1724Leu)
c.5233T>C (p.Phe1745Leu)
c.5281T>C (p.Phe1761Leu)
c.5263T>C (p.Phe1755Leu)
c.5191T>C (p.Phe1731Leu)
c.5218T>C (p.Phe1740Leu)
c.5221T>C (p.Phe1741Leu)
c.5260T>C (p.Phe1754Leu)
c.5230T>C (p.Phe1744Leu)
n.2052T>C
c.5125T>C (p.Phe1709Leu)
c.5188T>C (p.Phe1730Leu)
c.5128T>C (p.Phe1710Leu)
c.5326T>C (p.Phe1776Leu)
c.5323T>C (p.Phe1775Leu)
n.5682T>C
2g.71665271T>GCA347221121DYSFc.2698T>G (p.Phe900Val)
c.1915T>G (p.Phe639Val)
c.2023T>G (p.Phe675Val)
c.5167T>G (p.Phe1723Val)
c.5284T>G (p.Phe1762Val)
c.5170T>G (p.Phe1724Val)
c.5233T>G (p.Phe1745Val)
c.5281T>G (p.Phe1761Val)
c.5263T>G (p.Phe1755Val)
c.5191T>G (p.Phe1731Val)
c.5218T>G (p.Phe1740Val)
c.5221T>G (p.Phe1741Val)
c.5260T>G (p.Phe1754Val)
c.5230T>G (p.Phe1744Val)
n.2052T>G
c.5125T>G (p.Phe1709Val)
c.5188T>G (p.Phe1730Val)
c.5128T>G (p.Phe1710Val)
c.5326T>G (p.Phe1776Val)
c.5323T>G (p.Phe1775Val)
n.5682T>G
 dbSNP gnomAD v4
2g.71665271T=CA1260150195DYSFc.2698T= (p.Phe900=)
c.1915T= (p.Phe639=)
c.2023T= (p.Phe675=)
c.5167T= (p.Phe1723=)
c.5284T= (p.Phe1762=)
c.5170T= (p.Phe1724=)
c.5233T= (p.Phe1745=)
c.5281T= (p.Phe1761=)
c.5263T= (p.Phe1755=)
c.5191T= (p.Phe1731=)
c.5218T= (p.Phe1740=)
c.5221T= (p.Phe1741=)
c.5260T= (p.Phe1754=)
c.5230T= (p.Phe1744=)
n.2052T=
c.5125T= (p.Phe1709=)
c.5188T= (p.Phe1730=)
c.5128T= (p.Phe1710=)
c.5326T= (p.Phe1776=)
c.5323T= (p.Phe1775=)
n.5682T=
2g.71665272T>ACA347221124DYSFc.2699T>A (p.Phe900Tyr)
c.1916T>A (p.Phe639Tyr)
c.2024T>A (p.Phe675Tyr)
c.5168T>A (p.Phe1723Tyr)
c.5285T>A (p.Phe1762Tyr)
c.5171T>A (p.Phe1724Tyr)
c.5234T>A (p.Phe1745Tyr)
c.5282T>A (p.Phe1761Tyr)
c.5264T>A (p.Phe1755Tyr)
c.5192T>A (p.Phe1731Tyr)
c.5219T>A (p.Phe1740Tyr)
c.5222T>A (p.Phe1741Tyr)
c.5261T>A (p.Phe1754Tyr)
c.5231T>A (p.Phe1744Tyr)
n.2053T>A
c.5126T>A (p.Phe1709Tyr)
c.5189T>A (p.Phe1730Tyr)
c.5129T>A (p.Phe1710Tyr)
c.5327T>A (p.Phe1776Tyr)
c.5324T>A (p.Phe1775Tyr)
n.5683T>A
2g.71665272T>CCA347221123DYSFc.2699T>C (p.Phe900Ser)
c.1916T>C (p.Phe639Ser)
c.2024T>C (p.Phe675Ser)
c.5168T>C (p.Phe1723Ser)
c.5285T>C (p.Phe1762Ser)
c.5171T>C (p.Phe1724Ser)
c.5234T>C (p.Phe1745Ser)
c.5282T>C (p.Phe1761Ser)
c.5264T>C (p.Phe1755Ser)
c.5192T>C (p.Phe1731Ser)
c.5219T>C (p.Phe1740Ser)
c.5222T>C (p.Phe1741Ser)
c.5261T>C (p.Phe1754Ser)
c.5231T>C (p.Phe1744Ser)
n.2053T>C
c.5126T>C (p.Phe1709Ser)
c.5189T>C (p.Phe1730Ser)
c.5129T>C (p.Phe1710Ser)
c.5327T>C (p.Phe1776Ser)
c.5324T>C (p.Phe1775Ser)
n.5683T>C
2g.71665272T>GCA347221122DYSFc.2699T>G (p.Phe900Cys)
c.1916T>G (p.Phe639Cys)
c.2024T>G (p.Phe675Cys)
c.5168T>G (p.Phe1723Cys)
c.5285T>G (p.Phe1762Cys)
c.5171T>G (p.Phe1724Cys)
c.5234T>G (p.Phe1745Cys)
c.5282T>G (p.Phe1761Cys)
c.5264T>G (p.Phe1755Cys)
c.5192T>G (p.Phe1731Cys)
c.5219T>G (p.Phe1740Cys)
c.5222T>G (p.Phe1741Cys)
c.5261T>G (p.Phe1754Cys)
c.5231T>G (p.Phe1744Cys)
n.2053T>G
c.5126T>G (p.Phe1709Cys)
c.5189T>G (p.Phe1730Cys)
c.5129T>G (p.Phe1710Cys)
c.5327T>G (p.Phe1776Cys)
c.5324T>G (p.Phe1775Cys)
n.5683T>G
 gnomAD v4
2g.71665273T>ACA347221125DYSFc.2700T>A (p.Phe900Leu)
c.1917T>A (p.Phe639Leu)
c.2025T>A (p.Phe675Leu)
c.5169T>A (p.Phe1723Leu)
c.5286T>A (p.Phe1762Leu)
c.5172T>A (p.Phe1724Leu)
c.5235T>A (p.Phe1745Leu)
c.5283T>A (p.Phe1761Leu)
c.5265T>A (p.Phe1755Leu)
c.5193T>A (p.Phe1731Leu)
c.5220T>A (p.Phe1740Leu)
c.5223T>A (p.Phe1741Leu)
c.5262T>A (p.Phe1754Leu)
c.5232T>A (p.Phe1744Leu)
n.2054T>A
c.5127T>A (p.Phe1709Leu)
c.5190T>A (p.Phe1730Leu)
c.5130T>A (p.Phe1710Leu)
c.5328T>A (p.Phe1776Leu)
c.5325T>A (p.Phe1775Leu)
n.5684T>A
2g.71665273T>CCA426704079DYSFc.2700T>C (p.Phe900=)
c.1917T>C (p.Phe639=)
c.2025T>C (p.Phe675=)
c.5169T>C (p.Phe1723=)
c.5286T>C (p.Phe1762=)
c.5172T>C (p.Phe1724=)
c.5235T>C (p.Phe1745=)
c.5283T>C (p.Phe1761=)
c.5265T>C (p.Phe1755=)
c.5193T>C (p.Phe1731=)
c.5220T>C (p.Phe1740=)
c.5223T>C (p.Phe1741=)
c.5262T>C (p.Phe1754=)
c.5232T>C (p.Phe1744=)
n.2054T>C
c.5127T>C (p.Phe1709=)
c.5190T>C (p.Phe1730=)
c.5130T>C (p.Phe1710=)
c.5328T>C (p.Phe1776=)
c.5325T>C (p.Phe1775=)
n.5684T>C
2g.71665273T>GCA347221126DYSFc.2700T>G (p.Phe900Leu)
c.1917T>G (p.Phe639Leu)
c.2025T>G (p.Phe675Leu)
c.5169T>G (p.Phe1723Leu)
c.5286T>G (p.Phe1762Leu)
c.5172T>G (p.Phe1724Leu)
c.5235T>G (p.Phe1745Leu)
c.5283T>G (p.Phe1761Leu)
c.5265T>G (p.Phe1755Leu)
c.5193T>G (p.Phe1731Leu)
c.5220T>G (p.Phe1740Leu)
c.5223T>G (p.Phe1741Leu)
c.5262T>G (p.Phe1754Leu)
c.5232T>G (p.Phe1744Leu)
n.2054T>G
c.5127T>G (p.Phe1709Leu)
c.5190T>G (p.Phe1730Leu)
c.5130T>G (p.Phe1710Leu)
c.5328T>G (p.Phe1776Leu)
c.5325T>G (p.Phe1775Leu)
n.5684T>G
2g.71665274C>ACA347221127DYSFc.2701C>A (p.Gln901Lys)
c.1918C>A (p.Gln640Lys)
c.2026C>A (p.Gln676Lys)
c.5170C>A (p.Gln1724Lys)
c.5287C>A (p.Gln1763Lys)
c.5173C>A (p.Gln1725Lys)
c.5236C>A (p.Gln1746Lys)
c.5284C>A (p.Gln1762Lys)
c.5266C>A (p.Gln1756Lys)
c.5194C>A (p.Gln1732Lys)
c.5221C>A (p.Gln1741Lys)
c.5224C>A (p.Gln1742Lys)
c.5263C>A (p.Gln1755Lys)
c.5233C>A (p.Gln1745Lys)
n.2055C>A
c.5128C>A (p.Gln1710Lys)
c.5191C>A (p.Gln1731Lys)
c.5131C>A (p.Gln1711Lys)
c.5329C>A (p.Gln1777Lys)
c.5326C>A (p.Gln1776Lys)
n.5685C>A
2g.71665274C=CA1260150196DYSFc.2701C= (p.Gln901=)
c.1918C= (p.Gln640=)
c.2026C= (p.Gln676=)
c.5170C= (p.Gln1724=)
c.5287C= (p.Gln1763=)
c.5173C= (p.Gln1725=)
c.5236C= (p.Gln1746=)
c.5284C= (p.Gln1762=)
c.5266C= (p.Gln1756=)
c.5194C= (p.Gln1732=)
c.5221C= (p.Gln1741=)
c.5224C= (p.Gln1742=)
c.5263C= (p.Gln1755=)
c.5233C= (p.Gln1745=)
n.2055C=
c.5128C= (p.Gln1710=)
c.5191C= (p.Gln1731=)
c.5131C= (p.Gln1711=)
c.5329C= (p.Gln1777=)
c.5326C= (p.Gln1776=)
n.5685C=
2g.71665274C>GCA347221128DYSFc.2701C>G (p.Gln901Glu)
c.1918C>G (p.Gln640Glu)
c.2026C>G (p.Gln676Glu)
c.5170C>G (p.Gln1724Glu)
c.5287C>G (p.Gln1763Glu)
c.5173C>G (p.Gln1725Glu)
c.5236C>G (p.Gln1746Glu)
c.5284C>G (p.Gln1762Glu)
c.5266C>G (p.Gln1756Glu)
c.5194C>G (p.Gln1732Glu)
c.5221C>G (p.Gln1741Glu)
c.5224C>G (p.Gln1742Glu)
c.5263C>G (p.Gln1755Glu)
c.5233C>G (p.Gln1745Glu)
n.2055C>G
c.5128C>G (p.Gln1710Glu)
c.5191C>G (p.Gln1731Glu)
c.5131C>G (p.Gln1711Glu)
c.5329C>G (p.Gln1777Glu)
c.5326C>G (p.Gln1776Glu)
n.5685C>G
2g.71665274C>TCA1707310DYSFc.2701C>T (p.Gln901Ter)
c.1918C>T (p.Gln640Ter)
c.2026C>T (p.Gln676Ter)
c.5170C>T (p.Gln1724Ter)
c.5287C>T (p.Gln1763Ter)
c.5173C>T (p.Gln1725Ter)
c.5236C>T (p.Gln1746Ter)
c.5284C>T (p.Gln1762Ter)
c.5266C>T (p.Gln1756Ter)
c.5194C>T (p.Gln1732Ter)
c.5221C>T (p.Gln1741Ter)
c.5224C>T (p.Gln1742Ter)
c.5263C>T (p.Gln1755Ter)
c.5233C>T (p.Gln1745Ter)
n.2055C>T
c.5128C>T (p.Gln1710Ter)
c.5191C>T (p.Gln1731Ter)
c.5131C>T (p.Gln1711Ter)
c.5329C>T (p.Gln1777Ter)
c.5326C>T (p.Gln1776Ter)
n.5685C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71665275A>CCA347221129DYSFc.2702A>C (p.Gln901Pro)
c.1919A>C (p.Gln640Pro)
c.2027A>C (p.Gln676Pro)
c.5171A>C (p.Gln1724Pro)
c.5288A>C (p.Gln1763Pro)
c.5174A>C (p.Gln1725Pro)
c.5237A>C (p.Gln1746Pro)
c.5285A>C (p.Gln1762Pro)
c.5267A>C (p.Gln1756Pro)
c.5195A>C (p.Gln1732Pro)
c.5222A>C (p.Gln1741Pro)
c.5225A>C (p.Gln1742Pro)
c.5264A>C (p.Gln1755Pro)
c.5234A>C (p.Gln1745Pro)
n.2056A>C
c.5129A>C (p.Gln1710Pro)
c.5192A>C (p.Gln1731Pro)
c.5132A>C (p.Gln1711Pro)
c.5330A>C (p.Gln1777Pro)
c.5327A>C (p.Gln1776Pro)
n.5686A>C
2g.71665275A>GCA347221130DYSFc.2702A>G (p.Gln901Arg)
c.1919A>G (p.Gln640Arg)
c.2027A>G (p.Gln676Arg)
c.5171A>G (p.Gln1724Arg)
c.5288A>G (p.Gln1763Arg)
c.5174A>G (p.Gln1725Arg)
c.5237A>G (p.Gln1746Arg)
c.5285A>G (p.Gln1762Arg)
c.5267A>G (p.Gln1756Arg)
c.5195A>G (p.Gln1732Arg)
c.5222A>G (p.Gln1741Arg)
c.5225A>G (p.Gln1742Arg)
c.5264A>G (p.Gln1755Arg)
c.5234A>G (p.Gln1745Arg)
n.2056A>G
c.5129A>G (p.Gln1710Arg)
c.5192A>G (p.Gln1731Arg)
c.5132A>G (p.Gln1711Arg)
c.5330A>G (p.Gln1777Arg)
c.5327A>G (p.Gln1776Arg)
n.5686A>G
 COSMIC COSMIC
2g.71665275A>TCA347221131DYSFc.2702A>T (p.Gln901Leu)
c.1919A>T (p.Gln640Leu)
c.2027A>T (p.Gln676Leu)
c.5171A>T (p.Gln1724Leu)
c.5288A>T (p.Gln1763Leu)
c.5174A>T (p.Gln1725Leu)
c.5237A>T (p.Gln1746Leu)
c.5285A>T (p.Gln1762Leu)
c.5267A>T (p.Gln1756Leu)
c.5195A>T (p.Gln1732Leu)
c.5222A>T (p.Gln1741Leu)
c.5225A>T (p.Gln1742Leu)
c.5264A>T (p.Gln1755Leu)
c.5234A>T (p.Gln1745Leu)
n.2056A>T
c.5129A>T (p.Gln1710Leu)
c.5192A>T (p.Gln1731Leu)
c.5132A>T (p.Gln1711Leu)
c.5330A>T (p.Gln1777Leu)
c.5327A>T (p.Gln1776Leu)
n.5686A>T
2g.71665276G>ACA426704080DYSFc.2703G>A (p.Gln901=)
c.1920G>A (p.Gln640=)
c.2028G>A (p.Gln676=)
c.5172G>A (p.Gln1724=)
c.5289G>A (p.Gln1763=)
c.5175G>A (p.Gln1725=)
c.5238G>A (p.Gln1746=)
c.5286G>A (p.Gln1762=)
c.5268G>A (p.Gln1756=)
c.5196G>A (p.Gln1732=)
c.5223G>A (p.Gln1741=)
c.5226G>A (p.Gln1742=)
c.5265G>A (p.Gln1755=)
c.5235G>A (p.Gln1745=)
n.2057G>A
c.5130G>A (p.Gln1710=)
c.5193G>A (p.Gln1731=)
c.5133G>A (p.Gln1711=)
c.5331G>A (p.Gln1777=)
c.5328G>A (p.Gln1776=)
2g.71665276G>CCA347221132DYSFc.2703G>C (p.Gln901His)
c.1920G>C (p.Gln640His)
c.2028G>C (p.Gln676His)
c.5172G>C (p.Gln1724His)
c.5289G>C (p.Gln1763His)
c.5175G>C (p.Gln1725His)
c.5238G>C (p.Gln1746His)
c.5286G>C (p.Gln1762His)
c.5268G>C (p.Gln1756His)
c.5196G>C (p.Gln1732His)
c.5223G>C (p.Gln1741His)
c.5226G>C (p.Gln1742His)
c.5265G>C (p.Gln1755His)
c.5235G>C (p.Gln1745His)
n.2057G>C
c.5130G>C (p.Gln1710His)
c.5193G>C (p.Gln1731His)
c.5133G>C (p.Gln1711His)
c.5331G>C (p.Gln1777His)
c.5328G>C (p.Gln1776His)
2g.71665276G>TCA347221133DYSFc.2703G>T (p.Gln901His)
c.1920G>T (p.Gln640His)
c.2028G>T (p.Gln676His)
c.5172G>T (p.Gln1724His)
c.5289G>T (p.Gln1763His)
c.5175G>T (p.Gln1725His)
c.5238G>T (p.Gln1746His)
c.5286G>T (p.Gln1762His)
c.5268G>T (p.Gln1756His)
c.5196G>T (p.Gln1732His)
c.5223G>T (p.Gln1741His)
c.5226G>T (p.Gln1742His)
c.5265G>T (p.Gln1755His)
c.5235G>T (p.Gln1745His)
n.2057G>T
c.5130G>T (p.Gln1710His)
c.5193G>T (p.Gln1731His)
c.5133G>T (p.Gln1711His)
c.5331G>T (p.Gln1777His)
c.5328G>T (p.Gln1776His)
 COSMIC COSMIC
2g.71665277G>ACA49767348DYSFc.2704G>A (p.Asp902Asn)
c.1921G>A (p.Asp641Asn)
c.2029G>A (p.Asp677Asn)
c.5173G>A (p.Asp1725Asn)
c.5290G>A (p.Asp1764Asn)
c.5176G>A (p.Asp1726Asn)
c.5239G>A (p.Asp1747Asn)
c.5287G>A (p.Asp1763Asn)
c.5269G>A (p.Asp1757Asn)
c.5197G>A (p.Asp1733Asn)
c.5224G>A (p.Asp1742Asn)
c.5227G>A (p.Asp1743Asn)
c.5266G>A (p.Asp1756Asn)
c.5236G>A (p.Asp1746Asn)
n.2058G>A
c.5131G>A (p.Asp1711Asn)
c.5194G>A (p.Asp1732Asn)
c.5134G>A (p.Asp1712Asn)
c.5332G>A (p.Asp1778Asn)
c.5329G>A (p.Asp1777Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71665277G>CCA347221134DYSFc.2704G>C (p.Asp902His)
c.1921G>C (p.Asp641His)
c.2029G>C (p.Asp677His)
c.5173G>C (p.Asp1725His)
c.5290G>C (p.Asp1764His)
c.5176G>C (p.Asp1726His)
c.5239G>C (p.Asp1747His)
c.5287G>C (p.Asp1763His)
c.5269G>C (p.Asp1757His)
c.5197G>C (p.Asp1733His)
c.5224G>C (p.Asp1742His)
c.5227G>C (p.Asp1743His)
c.5266G>C (p.Asp1756His)
c.5236G>C (p.Asp1746His)
n.2058G>C
c.5131G>C (p.Asp1711His)
c.5194G>C (p.Asp1732His)
c.5134G>C (p.Asp1712His)
c.5332G>C (p.Asp1778His)
c.5329G>C (p.Asp1777His)
2g.71665277G=CA1260150197DYSFc.2704G= (p.Asp902=)
c.1921G= (p.Asp641=)
c.2029G= (p.Asp677=)
c.5173G= (p.Asp1725=)
c.5290G= (p.Asp1764=)
c.5176G= (p.Asp1726=)
c.5239G= (p.Asp1747=)
c.5287G= (p.Asp1763=)
c.5269G= (p.Asp1757=)
c.5197G= (p.Asp1733=)
c.5224G= (p.Asp1742=)
c.5227G= (p.Asp1743=)
c.5266G= (p.Asp1756=)
c.5236G= (p.Asp1746=)
n.2058G=
c.5131G= (p.Asp1711=)
c.5194G= (p.Asp1732=)
c.5134G= (p.Asp1712=)
c.5332G= (p.Asp1778=)
c.5329G= (p.Asp1777=)
2g.71665277G>TCA347221135DYSFc.2704G>T (p.Asp902Tyr)
c.1921G>T (p.Asp641Tyr)
c.2029G>T (p.Asp677Tyr)
c.5173G>T (p.Asp1725Tyr)
c.5290G>T (p.Asp1764Tyr)
c.5176G>T (p.Asp1726Tyr)
c.5239G>T (p.Asp1747Tyr)
c.5287G>T (p.Asp1763Tyr)
c.5269G>T (p.Asp1757Tyr)
c.5197G>T (p.Asp1733Tyr)
c.5224G>T (p.Asp1742Tyr)
c.5227G>T (p.Asp1743Tyr)
c.5266G>T (p.Asp1756Tyr)
c.5236G>T (p.Asp1746Tyr)
n.2058G>T
c.5131G>T (p.Asp1711Tyr)
c.5194G>T (p.Asp1732Tyr)
c.5134G>T (p.Asp1712Tyr)
c.5332G>T (p.Asp1778Tyr)
c.5329G>T (p.Asp1777Tyr)
2g.71665278A>CCA347221137DYSFc.2705A>C (p.Asp902Ala)
c.1922A>C (p.Asp641Ala)
c.2030A>C (p.Asp677Ala)
c.5174A>C (p.Asp1725Ala)
c.5291A>C (p.Asp1764Ala)
c.5177A>C (p.Asp1726Ala)
c.5240A>C (p.Asp1747Ala)
c.5288A>C (p.Asp1763Ala)
c.5270A>C (p.Asp1757Ala)
c.5198A>C (p.Asp1733Ala)
c.5225A>C (p.Asp1742Ala)
c.5228A>C (p.Asp1743Ala)
c.5267A>C (p.Asp1756Ala)
c.5237A>C (p.Asp1746Ala)
n.2059A>C
c.5132A>C (p.Asp1711Ala)
c.5195A>C (p.Asp1732Ala)
c.5135A>C (p.Asp1712Ala)
c.5333A>C (p.Asp1778Ala)
c.5330A>C (p.Asp1777Ala)
2g.71665278A>GCA347221138DYSFc.2705A>G (p.Asp902Gly)
c.1922A>G (p.Asp641Gly)
c.2030A>G (p.Asp677Gly)
c.5174A>G (p.Asp1725Gly)
c.5291A>G (p.Asp1764Gly)
c.5177A>G (p.Asp1726Gly)
c.5240A>G (p.Asp1747Gly)
c.5288A>G (p.Asp1763Gly)
c.5270A>G (p.Asp1757Gly)
c.5198A>G (p.Asp1733Gly)
c.5225A>G (p.Asp1742Gly)
c.5228A>G (p.Asp1743Gly)
c.5267A>G (p.Asp1756Gly)
c.5237A>G (p.Asp1746Gly)
n.2059A>G
c.5132A>G (p.Asp1711Gly)
c.5195A>G (p.Asp1732Gly)
c.5135A>G (p.Asp1712Gly)
c.5333A>G (p.Asp1778Gly)
c.5330A>G (p.Asp1777Gly)
 ClinVar dbSNP gnomAD v4
2g.71665278A>TCA347221136DYSFc.2705A>T (p.Asp902Val)
c.1922A>T (p.Asp641Val)
c.2030A>T (p.Asp677Val)
c.5174A>T (p.Asp1725Val)
c.5291A>T (p.Asp1764Val)
c.5177A>T (p.Asp1726Val)
c.5240A>T (p.Asp1747Val)
c.5288A>T (p.Asp1763Val)
c.5270A>T (p.Asp1757Val)
c.5198A>T (p.Asp1733Val)
c.5225A>T (p.Asp1742Val)
c.5228A>T (p.Asp1743Val)
c.5267A>T (p.Asp1756Val)
c.5237A>T (p.Asp1746Val)
n.2059A>T
c.5132A>T (p.Asp1711Val)
c.5195A>T (p.Asp1732Val)
c.5135A>T (p.Asp1712Val)
c.5333A>T (p.Asp1778Val)
c.5330A>T (p.Asp1777Val)
 gnomAD v4
2g.71665279T>ACA347221139DYSFc.2706T>A (p.Asp902Glu)
c.1923T>A (p.Asp641Glu)
c.2031T>A (p.Asp677Glu)
c.5175T>A (p.Asp1725Glu)
c.5292T>A (p.Asp1764Glu)
c.5178T>A (p.Asp1726Glu)
c.5241T>A (p.Asp1747Glu)
c.5289T>A (p.Asp1763Glu)
c.5271T>A (p.Asp1757Glu)
c.5199T>A (p.Asp1733Glu)
c.5226T>A (p.Asp1742Glu)
c.5229T>A (p.Asp1743Glu)
c.5268T>A (p.Asp1756Glu)
c.5238T>A (p.Asp1746Glu)
n.2060T>A
c.5133T>A (p.Asp1711Glu)
c.5196T>A (p.Asp1732Glu)
c.5136T>A (p.Asp1712Glu)
c.5334T>A (p.Asp1778Glu)
c.5331T>A (p.Asp1777Glu)
2g.71665279T>CCA426704081DYSFc.2706T>C (p.Asp902=)
c.1923T>C (p.Asp641=)
c.2031T>C (p.Asp677=)
c.5175T>C (p.Asp1725=)
c.5292T>C (p.Asp1764=)
c.5178T>C (p.Asp1726=)
c.5241T>C (p.Asp1747=)
c.5289T>C (p.Asp1763=)
c.5271T>C (p.Asp1757=)
c.5199T>C (p.Asp1733=)
c.5226T>C (p.Asp1742=)
c.5229T>C (p.Asp1743=)
c.5268T>C (p.Asp1756=)
c.5238T>C (p.Asp1746=)
n.2060T>C
c.5133T>C (p.Asp1711=)
c.5196T>C (p.Asp1732=)
c.5136T>C (p.Asp1712=)
c.5334T>C (p.Asp1778=)
c.5331T>C (p.Asp1777=)
2g.71665279T>GCA347221140DYSFc.2706T>G (p.Asp902Glu)
c.1923T>G (p.Asp641Glu)
c.2031T>G (p.Asp677Glu)
c.5175T>G (p.Asp1725Glu)
c.5292T>G (p.Asp1764Glu)
c.5178T>G (p.Asp1726Glu)
c.5241T>G (p.Asp1747Glu)
c.5289T>G (p.Asp1763Glu)
c.5271T>G (p.Asp1757Glu)
c.5199T>G (p.Asp1733Glu)
c.5226T>G (p.Asp1742Glu)
c.5229T>G (p.Asp1743Glu)
c.5268T>G (p.Asp1756Glu)
c.5238T>G (p.Asp1746Glu)
n.2060T>G
c.5133T>G (p.Asp1711Glu)
c.5196T>G (p.Asp1732Glu)
c.5136T>G (p.Asp1712Glu)
c.5334T>G (p.Asp1778Glu)
c.5331T>G (p.Asp1777Glu)
2g.71665280A=CA1260150198DYSFc.2707A= (p.Lys903=)
c.1924A= (p.Lys642=)
c.2032A= (p.Lys678=)
c.5176A= (p.Lys1726=)
c.5293A= (p.Lys1765=)
c.5179A= (p.Lys1727=)
c.5242A= (p.Lys1748=)
c.5290A= (p.Lys1764=)
c.5272A= (p.Lys1758=)
c.5200A= (p.Lys1734=)
c.5227A= (p.Lys1743=)
c.5230A= (p.Lys1744=)
c.5269A= (p.Lys1757=)
c.5239A= (p.Lys1747=)
n.2061A=
c.5134A= (p.Lys1712=)
c.5197A= (p.Lys1733=)
c.5137A= (p.Lys1713=)
c.5335A= (p.Lys1779=)
c.5332A= (p.Lys1778=)
2g.71665280A>CCA347221141DYSFc.2707A>C (p.Lys903Gln)
c.1924A>C (p.Lys642Gln)
c.2032A>C (p.Lys678Gln)
c.5176A>C (p.Lys1726Gln)
c.5293A>C (p.Lys1765Gln)
c.5179A>C (p.Lys1727Gln)
c.5242A>C (p.Lys1748Gln)
c.5290A>C (p.Lys1764Gln)
c.5272A>C (p.Lys1758Gln)
c.5200A>C (p.Lys1734Gln)
c.5227A>C (p.Lys1743Gln)
c.5230A>C (p.Lys1744Gln)
c.5269A>C (p.Lys1757Gln)
c.5239A>C (p.Lys1747Gln)
n.2061A>C
c.5134A>C (p.Lys1712Gln)
c.5197A>C (p.Lys1733Gln)
c.5137A>C (p.Lys1713Gln)
c.5335A>C (p.Lys1779Gln)
c.5332A>C (p.Lys1778Gln)
2g.71665280A>GCA347221142DYSFc.2707A>G (p.Lys903Glu)
c.1924A>G (p.Lys642Glu)
c.2032A>G (p.Lys678Glu)
c.5176A>G (p.Lys1726Glu)
c.5293A>G (p.Lys1765Glu)
c.5179A>G (p.Lys1727Glu)
c.5242A>G (p.Lys1748Glu)
c.5290A>G (p.Lys1764Glu)
c.5272A>G (p.Lys1758Glu)
c.5200A>G (p.Lys1734Glu)
c.5227A>G (p.Lys1743Glu)
c.5230A>G (p.Lys1744Glu)
c.5269A>G (p.Lys1757Glu)
c.5239A>G (p.Lys1747Glu)
n.2061A>G
c.5134A>G (p.Lys1712Glu)
c.5197A>G (p.Lys1733Glu)
c.5137A>G (p.Lys1713Glu)
c.5335A>G (p.Lys1779Glu)
c.5332A>G (p.Lys1778Glu)
 dbSNP
2g.71665280A>TCA347221143DYSFc.2707A>T (p.Lys903Ter)
c.1924A>T (p.Lys642Ter)
c.2032A>T (p.Lys678Ter)
c.5176A>T (p.Lys1726Ter)
c.5293A>T (p.Lys1765Ter)
c.5179A>T (p.Lys1727Ter)
c.5242A>T (p.Lys1748Ter)
c.5290A>T (p.Lys1764Ter)
c.5272A>T (p.Lys1758Ter)
c.5200A>T (p.Lys1734Ter)
c.5227A>T (p.Lys1743Ter)
c.5230A>T (p.Lys1744Ter)
c.5269A>T (p.Lys1757Ter)
c.5239A>T (p.Lys1747Ter)
n.2061A>T
c.5134A>T (p.Lys1712Ter)
c.5197A>T (p.Lys1733Ter)
c.5137A>T (p.Lys1713Ter)
c.5335A>T (p.Lys1779Ter)
c.5332A>T (p.Lys1778Ter)
 ClinVar
2g.71665281A>CCA347221144DYSFc.2708A>C (p.Lys903Thr)
c.1925A>C (p.Lys642Thr)
c.2033A>C (p.Lys678Thr)
c.5177A>C (p.Lys1726Thr)
c.5294A>C (p.Lys1765Thr)
c.5180A>C (p.Lys1727Thr)
c.5243A>C (p.Lys1748Thr)
c.5291A>C (p.Lys1764Thr)
c.5273A>C (p.Lys1758Thr)
c.5201A>C (p.Lys1734Thr)
c.5228A>C (p.Lys1743Thr)
c.5231A>C (p.Lys1744Thr)
c.5270A>C (p.Lys1757Thr)
c.5240A>C (p.Lys1747Thr)
n.2062A>C
c.5135A>C (p.Lys1712Thr)
c.5198A>C (p.Lys1733Thr)
c.5138A>C (p.Lys1713Thr)
c.5336A>C (p.Lys1779Thr)
c.5333A>C (p.Lys1778Thr)
2g.71665281A>GCA347221145DYSFc.2708A>G (p.Lys903Arg)
c.1925A>G (p.Lys642Arg)
c.2033A>G (p.Lys678Arg)
c.5177A>G (p.Lys1726Arg)
c.5294A>G (p.Lys1765Arg)
c.5180A>G (p.Lys1727Arg)
c.5243A>G (p.Lys1748Arg)
c.5291A>G (p.Lys1764Arg)
c.5273A>G (p.Lys1758Arg)
c.5201A>G (p.Lys1734Arg)
c.5228A>G (p.Lys1743Arg)
c.5231A>G (p.Lys1744Arg)
c.5270A>G (p.Lys1757Arg)
c.5240A>G (p.Lys1747Arg)
n.2062A>G
c.5135A>G (p.Lys1712Arg)
c.5198A>G (p.Lys1733Arg)
c.5138A>G (p.Lys1713Arg)
c.5336A>G (p.Lys1779Arg)
c.5333A>G (p.Lys1778Arg)
2g.71665281A>TCA347221146DYSFc.2708A>T (p.Lys903Ile)
c.1925A>T (p.Lys642Ile)
c.2033A>T (p.Lys678Ile)
c.5177A>T (p.Lys1726Ile)
c.5294A>T (p.Lys1765Ile)
c.5180A>T (p.Lys1727Ile)
c.5243A>T (p.Lys1748Ile)
c.5291A>T (p.Lys1764Ile)
c.5273A>T (p.Lys1758Ile)
c.5201A>T (p.Lys1734Ile)
c.5228A>T (p.Lys1743Ile)
c.5231A>T (p.Lys1744Ile)
c.5270A>T (p.Lys1757Ile)
c.5240A>T (p.Lys1747Ile)
n.2062A>T
c.5135A>T (p.Lys1712Ile)
c.5198A>T (p.Lys1733Ile)
c.5138A>T (p.Lys1713Ile)
c.5336A>T (p.Lys1779Ile)
c.5333A>T (p.Lys1778Ile)
2g.71665282A>CCA347221147DYSFc.2709A>C (p.Lys903Asn)
c.1926A>C (p.Lys642Asn)
c.2034A>C (p.Lys678Asn)
c.5178A>C (p.Lys1726Asn)
c.5295A>C (p.Lys1765Asn)
c.5181A>C (p.Lys1727Asn)
c.5244A>C (p.Lys1748Asn)
c.5292A>C (p.Lys1764Asn)
c.5274A>C (p.Lys1758Asn)
c.5202A>C (p.Lys1734Asn)
c.5229A>C (p.Lys1743Asn)
c.5232A>C (p.Lys1744Asn)
c.5271A>C (p.Lys1757Asn)
c.5241A>C (p.Lys1747Asn)
n.2063A>C
c.5136A>C (p.Lys1712Asn)
c.5199A>C (p.Lys1733Asn)
c.5139A>C (p.Lys1713Asn)
c.5337A>C (p.Lys1779Asn)
c.5334A>C (p.Lys1778Asn)
2g.71665282A>GCA426704082DYSFc.2709A>G (p.Lys903=)
c.1926A>G (p.Lys642=)
c.2034A>G (p.Lys678=)
c.5178A>G (p.Lys1726=)
c.5295A>G (p.Lys1765=)
c.5181A>G (p.Lys1727=)
c.5244A>G (p.Lys1748=)
c.5292A>G (p.Lys1764=)
c.5274A>G (p.Lys1758=)
c.5202A>G (p.Lys1734=)
c.5229A>G (p.Lys1743=)
c.5232A>G (p.Lys1744=)
c.5271A>G (p.Lys1757=)
c.5241A>G (p.Lys1747=)
n.2063A>G
c.5136A>G (p.Lys1712=)
c.5199A>G (p.Lys1733=)
c.5139A>G (p.Lys1713=)
c.5337A>G (p.Lys1779=)
c.5334A>G (p.Lys1778=)
2g.71665282A>TCA347221148DYSFc.2709A>T (p.Lys903Asn)
c.1926A>T (p.Lys642Asn)
c.2034A>T (p.Lys678Asn)
c.5178A>T (p.Lys1726Asn)
c.5295A>T (p.Lys1765Asn)
c.5181A>T (p.Lys1727Asn)
c.5244A>T (p.Lys1748Asn)
c.5292A>T (p.Lys1764Asn)
c.5274A>T (p.Lys1758Asn)
c.5202A>T (p.Lys1734Asn)
c.5229A>T (p.Lys1743Asn)
c.5232A>T (p.Lys1744Asn)
c.5271A>T (p.Lys1757Asn)
c.5241A>T (p.Lys1747Asn)
n.2063A>T
c.5136A>T (p.Lys1712Asn)
c.5199A>T (p.Lys1733Asn)
c.5139A>T (p.Lys1713Asn)
c.5337A>T (p.Lys1779Asn)
c.5334A>T (p.Lys1778Asn)
2g.71665283G>ACA347221151DYSFc.2710G>A (p.Glu904Lys)
c.1927G>A (p.Glu643Lys)
c.2035G>A (p.Glu679Lys)
c.5179G>A (p.Glu1727Lys)
c.5296G>A (p.Glu1766Lys)
c.5182G>A (p.Glu1728Lys)
c.5245G>A (p.Glu1749Lys)
c.5293G>A (p.Glu1765Lys)
c.5275G>A (p.Glu1759Lys)
c.5203G>A (p.Glu1735Lys)
c.5230G>A (p.Glu1744Lys)
c.5233G>A (p.Glu1745Lys)
c.5272G>A (p.Glu1758Lys)
c.5242G>A (p.Glu1748Lys)
n.2064G>A
c.5137G>A (p.Glu1713Lys)
c.5200G>A (p.Glu1734Lys)
c.5140G>A (p.Glu1714Lys)
c.5338G>A (p.Glu1780Lys)
c.5335G>A (p.Glu1779Lys)
2g.71665283G>CCA347221150DYSFc.2710G>C (p.Glu904Gln)
c.1927G>C (p.Glu643Gln)
c.2035G>C (p.Glu679Gln)
c.5179G>C (p.Glu1727Gln)
c.5296G>C (p.Glu1766Gln)
c.5182G>C (p.Glu1728Gln)
c.5245G>C (p.Glu1749Gln)
c.5293G>C (p.Glu1765Gln)
c.5275G>C (p.Glu1759Gln)
c.5203G>C (p.Glu1735Gln)
c.5230G>C (p.Glu1744Gln)
c.5233G>C (p.Glu1745Gln)
c.5272G>C (p.Glu1758Gln)
c.5242G>C (p.Glu1748Gln)
n.2064G>C
c.5137G>C (p.Glu1713Gln)
c.5200G>C (p.Glu1734Gln)
c.5140G>C (p.Glu1714Gln)
c.5338G>C (p.Glu1780Gln)
c.5335G>C (p.Glu1779Gln)
 ClinVar dbSNP gnomAD v4
2g.71665283G=CA1260150199DYSFc.2710G= (p.Glu904=)
c.1927G= (p.Glu643=)
c.2035G= (p.Glu679=)
c.5179G= (p.Glu1727=)
c.5296G= (p.Glu1766=)
c.5182G= (p.Glu1728=)
c.5245G= (p.Glu1749=)
c.5293G= (p.Glu1765=)
c.5275G= (p.Glu1759=)
c.5203G= (p.Glu1735=)
c.5230G= (p.Glu1744=)
c.5233G= (p.Glu1745=)
c.5272G= (p.Glu1758=)
c.5242G= (p.Glu1748=)
n.2064G=
c.5137G= (p.Glu1713=)
c.5200G= (p.Glu1734=)
c.5140G= (p.Glu1714=)
c.5338G= (p.Glu1780=)
c.5335G= (p.Glu1779=)
2g.71665283G>TCA347221149DYSFc.2710G>T (p.Glu904Ter)
c.1927G>T (p.Glu643Ter)
c.2035G>T (p.Glu679Ter)
c.5179G>T (p.Glu1727Ter)
c.5296G>T (p.Glu1766Ter)
c.5182G>T (p.Glu1728Ter)
c.5245G>T (p.Glu1749Ter)
c.5293G>T (p.Glu1765Ter)
c.5275G>T (p.Glu1759Ter)
c.5203G>T (p.Glu1735Ter)
c.5230G>T (p.Glu1744Ter)
c.5233G>T (p.Glu1745Ter)
c.5272G>T (p.Glu1758Ter)
c.5242G>T (p.Glu1748Ter)
n.2064G>T
c.5137G>T (p.Glu1713Ter)
c.5200G>T (p.Glu1734Ter)
c.5140G>T (p.Glu1714Ter)
c.5338G>T (p.Glu1780Ter)
c.5335G>T (p.Glu1779Ter)
 ClinVar dbSNP COSMIC COSMIC
2g.71665284A>CCA347221152DYSFc.2711A>C (p.Glu904Ala)
c.1928A>C (p.Glu643Ala)
c.2036A>C (p.Glu679Ala)
c.5180A>C (p.Glu1727Ala)
c.5297A>C (p.Glu1766Ala)
c.5183A>C (p.Glu1728Ala)
c.5246A>C (p.Glu1749Ala)
c.5294A>C (p.Glu1765Ala)
c.5276A>C (p.Glu1759Ala)
c.5204A>C (p.Glu1735Ala)
c.5231A>C (p.Glu1744Ala)
c.5234A>C (p.Glu1745Ala)
c.5273A>C (p.Glu1758Ala)
c.5243A>C (p.Glu1748Ala)
n.2065A>C
c.5138A>C (p.Glu1713Ala)
c.5201A>C (p.Glu1734Ala)
c.5141A>C (p.Glu1714Ala)
c.5339A>C (p.Glu1780Ala)
c.5336A>C (p.Glu1779Ala)
2g.71665284A>GCA347221153DYSFc.2711A>G (p.Glu904Gly)
c.1928A>G (p.Glu643Gly)
c.2036A>G (p.Glu679Gly)
c.5180A>G (p.Glu1727Gly)
c.5297A>G (p.Glu1766Gly)
c.5183A>G (p.Glu1728Gly)
c.5246A>G (p.Glu1749Gly)
c.5294A>G (p.Glu1765Gly)
c.5276A>G (p.Glu1759Gly)
c.5204A>G (p.Glu1735Gly)
c.5231A>G (p.Glu1744Gly)
c.5234A>G (p.Glu1745Gly)
c.5273A>G (p.Glu1758Gly)
c.5243A>G (p.Glu1748Gly)
n.2065A>G
c.5138A>G (p.Glu1713Gly)
c.5201A>G (p.Glu1734Gly)
c.5141A>G (p.Glu1714Gly)
c.5339A>G (p.Glu1780Gly)
c.5336A>G (p.Glu1779Gly)
2g.71665284A>TCA347221154DYSFc.2711A>T (p.Glu904Val)
c.1928A>T (p.Glu643Val)
c.2036A>T (p.Glu679Val)
c.5180A>T (p.Glu1727Val)
c.5297A>T (p.Glu1766Val)
c.5183A>T (p.Glu1728Val)
c.5246A>T (p.Glu1749Val)
c.5294A>T (p.Glu1765Val)
c.5276A>T (p.Glu1759Val)
c.5204A>T (p.Glu1735Val)
c.5231A>T (p.Glu1744Val)
c.5234A>T (p.Glu1745Val)
c.5273A>T (p.Glu1758Val)
c.5243A>T (p.Glu1748Val)
n.2065A>T
c.5138A>T (p.Glu1713Val)
c.5201A>T (p.Glu1734Val)
c.5141A>T (p.Glu1714Val)
c.5339A>T (p.Glu1780Val)
c.5336A>T (p.Glu1779Val)
2g.71665285delCA2573135907DYSFc.2712del (p.Glu904AspfsTer7)
c.1929del (p.Glu643AspfsTer7)
c.2037del (p.Glu679AspfsTer7)
c.5181del (p.Glu1727AspfsTer7)
c.5298del (p.Glu1766AspfsTer7)
c.5184del (p.Glu1728AspfsTer7)
c.5247del (p.Glu1749AspfsTer7)
c.5295del (p.Glu1765AspfsTer7)
c.5277del (p.Glu1759AspfsTer7)
c.5205del (p.Glu1735AspfsTer7)
c.5232del (p.Glu1744AspfsTer7)
c.5235del (p.Glu1745AspfsTer7)
c.5274del (p.Glu1758AspfsTer7)
c.5244del (p.Glu1748AspfsTer7)
n.2066del
c.5139del (p.Glu1713AspfsTer7)
c.5202del (p.Glu1734AspfsTer7)
c.5142del (p.Glu1714AspfsTer7)
c.5340del (p.Glu1780AspfsTer7)
c.5337del (p.Glu1779AspfsTer7)
 ClinVar dbSNP gnomAD v4
2g.71665285A=CA1260150200DYSFc.2712A= (p.Glu904=)
c.1929A= (p.Glu643=)
c.2037A= (p.Glu679=)
c.5181A= (p.Glu1727=)
c.5298A= (p.Glu1766=)
c.5184A= (p.Glu1728=)
c.5247A= (p.Glu1749=)
c.5295A= (p.Glu1765=)
c.5277A= (p.Glu1759=)
c.5205A= (p.Glu1735=)
c.5232A= (p.Glu1744=)
c.5235A= (p.Glu1745=)
c.5274A= (p.Glu1758=)
c.5244A= (p.Glu1748=)
n.2066A=
c.5139A= (p.Glu1713=)
c.5202A= (p.Glu1734=)
c.5142A= (p.Glu1714=)
c.5340A= (p.Glu1780=)
c.5337A= (p.Glu1779=)
2g.71665285A>CCA347221155DYSFc.2712A>C (p.Glu904Asp)
c.1929A>C (p.Glu643Asp)
c.2037A>C (p.Glu679Asp)
c.5181A>C (p.Glu1727Asp)
c.5298A>C (p.Glu1766Asp)
c.5184A>C (p.Glu1728Asp)
c.5247A>C (p.Glu1749Asp)
c.5295A>C (p.Glu1765Asp)
c.5277A>C (p.Glu1759Asp)
c.5205A>C (p.Glu1735Asp)
c.5232A>C (p.Glu1744Asp)
c.5235A>C (p.Glu1745Asp)
c.5274A>C (p.Glu1758Asp)
c.5244A>C (p.Glu1748Asp)
n.2066A>C
c.5139A>C (p.Glu1713Asp)
c.5202A>C (p.Glu1734Asp)
c.5142A>C (p.Glu1714Asp)
c.5340A>C (p.Glu1780Asp)
c.5337A>C (p.Glu1779Asp)
2g.71665285A>GCA1707311DYSFc.2712A>G (p.Glu904=)
c.1929A>G (p.Glu643=)
c.2037A>G (p.Glu679=)
c.5181A>G (p.Glu1727=)
c.5298A>G (p.Glu1766=)
c.5184A>G (p.Glu1728=)
c.5247A>G (p.Glu1749=)
c.5295A>G (p.Glu1765=)
c.5277A>G (p.Glu1759=)
c.5205A>G (p.Glu1735=)
c.5232A>G (p.Glu1744=)
c.5235A>G (p.Glu1745=)
c.5274A>G (p.Glu1758=)
c.5244A>G (p.Glu1748=)
n.2066A>G
c.5139A>G (p.Glu1713=)
c.5202A>G (p.Glu1734=)
c.5142A>G (p.Glu1714=)
c.5340A>G (p.Glu1780=)
c.5337A>G (p.Glu1779=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665285A>TCA347221156DYSFc.2712A>T (p.Glu904Asp)
c.1929A>T (p.Glu643Asp)
c.2037A>T (p.Glu679Asp)
c.5181A>T (p.Glu1727Asp)
c.5298A>T (p.Glu1766Asp)
c.5184A>T (p.Glu1728Asp)
c.5247A>T (p.Glu1749Asp)
c.5295A>T (p.Glu1765Asp)
c.5277A>T (p.Glu1759Asp)
c.5205A>T (p.Glu1735Asp)
c.5232A>T (p.Glu1744Asp)
c.5235A>T (p.Glu1745Asp)
c.5274A>T (p.Glu1758Asp)
c.5244A>T (p.Glu1748Asp)
n.2066A>T
c.5139A>T (p.Glu1713Asp)
c.5202A>T (p.Glu1734Asp)
c.5142A>T (p.Glu1714Asp)
c.5340A>T (p.Glu1780Asp)
c.5337A>T (p.Glu1779Asp)
2g.71665286T>ACA347221157DYSFc.2713T>A (p.Tyr905Asn)
c.1930T>A (p.Tyr644Asn)
c.2038T>A (p.Tyr680Asn)
c.5182T>A (p.Tyr1728Asn)
c.5299T>A (p.Tyr1767Asn)
c.5185T>A (p.Tyr1729Asn)
c.5248T>A (p.Tyr1750Asn)
c.5296T>A (p.Tyr1766Asn)
c.5278T>A (p.Tyr1760Asn)
c.5206T>A (p.Tyr1736Asn)
c.5233T>A (p.Tyr1745Asn)
c.5236T>A (p.Tyr1746Asn)
c.5275T>A (p.Tyr1759Asn)
c.5245T>A (p.Tyr1749Asn)
n.2067T>A
c.5140T>A (p.Tyr1714Asn)
c.5203T>A (p.Tyr1735Asn)
c.5143T>A (p.Tyr1715Asn)
c.5341T>A (p.Tyr1781Asn)
c.5338T>A (p.Tyr1780Asn)
2g.71665286T>CCA347221158DYSFc.2713T>C (p.Tyr905His)
c.1930T>C (p.Tyr644His)
c.2038T>C (p.Tyr680His)
c.5182T>C (p.Tyr1728His)
c.5299T>C (p.Tyr1767His)
c.5185T>C (p.Tyr1729His)
c.5248T>C (p.Tyr1750His)
c.5296T>C (p.Tyr1766His)
c.5278T>C (p.Tyr1760His)
c.5206T>C (p.Tyr1736His)
c.5233T>C (p.Tyr1745His)
c.5236T>C (p.Tyr1746His)
c.5275T>C (p.Tyr1759His)
c.5245T>C (p.Tyr1749His)
n.2067T>C
c.5140T>C (p.Tyr1714His)
c.5203T>C (p.Tyr1735His)
c.5143T>C (p.Tyr1715His)
c.5341T>C (p.Tyr1781His)
c.5338T>C (p.Tyr1780His)
2g.71665286T>GCA347221159DYSFc.2713T>G (p.Tyr905Asp)
c.1930T>G (p.Tyr644Asp)
c.2038T>G (p.Tyr680Asp)
c.5182T>G (p.Tyr1728Asp)
c.5299T>G (p.Tyr1767Asp)
c.5185T>G (p.Tyr1729Asp)
c.5248T>G (p.Tyr1750Asp)
c.5296T>G (p.Tyr1766Asp)
c.5278T>G (p.Tyr1760Asp)
c.5206T>G (p.Tyr1736Asp)
c.5233T>G (p.Tyr1745Asp)
c.5236T>G (p.Tyr1746Asp)
c.5275T>G (p.Tyr1759Asp)
c.5245T>G (p.Tyr1749Asp)
n.2067T>G
c.5140T>G (p.Tyr1714Asp)
c.5203T>G (p.Tyr1735Asp)
c.5143T>G (p.Tyr1715Asp)
c.5341T>G (p.Tyr1781Asp)
c.5338T>G (p.Tyr1780Asp)
2g.71665287A>CCA347221160DYSFc.2714A>C (p.Tyr905Ser)
c.1931A>C (p.Tyr644Ser)
c.2039A>C (p.Tyr680Ser)
c.5183A>C (p.Tyr1728Ser)
c.5300A>C (p.Tyr1767Ser)
c.5186A>C (p.Tyr1729Ser)
c.5249A>C (p.Tyr1750Ser)
c.5297A>C (p.Tyr1766Ser)
c.5279A>C (p.Tyr1760Ser)
c.5207A>C (p.Tyr1736Ser)
c.5234A>C (p.Tyr1745Ser)
c.5237A>C (p.Tyr1746Ser)
c.5276A>C (p.Tyr1759Ser)
c.5246A>C (p.Tyr1749Ser)
n.2068A>C
c.5141A>C (p.Tyr1714Ser)
c.5204A>C (p.Tyr1735Ser)
c.5144A>C (p.Tyr1715Ser)
c.5342A>C (p.Tyr1781Ser)
c.5339A>C (p.Tyr1780Ser)
2g.71665287A>GCA347221161DYSFc.2714A>G (p.Tyr905Cys)
c.1931A>G (p.Tyr644Cys)
c.2039A>G (p.Tyr680Cys)
c.5183A>G (p.Tyr1728Cys)
c.5300A>G (p.Tyr1767Cys)
c.5186A>G (p.Tyr1729Cys)
c.5249A>G (p.Tyr1750Cys)
c.5297A>G (p.Tyr1766Cys)
c.5279A>G (p.Tyr1760Cys)
c.5207A>G (p.Tyr1736Cys)
c.5234A>G (p.Tyr1745Cys)
c.5237A>G (p.Tyr1746Cys)
c.5276A>G (p.Tyr1759Cys)
c.5246A>G (p.Tyr1749Cys)
n.2068A>G
c.5141A>G (p.Tyr1714Cys)
c.5204A>G (p.Tyr1735Cys)
c.5144A>G (p.Tyr1715Cys)
c.5342A>G (p.Tyr1781Cys)
c.5339A>G (p.Tyr1780Cys)
2g.71665287A>TCA347221162DYSFc.2714A>T (p.Tyr905Phe)
c.1931A>T (p.Tyr644Phe)
c.2039A>T (p.Tyr680Phe)
c.5183A>T (p.Tyr1728Phe)
c.5300A>T (p.Tyr1767Phe)
c.5186A>T (p.Tyr1729Phe)
c.5249A>T (p.Tyr1750Phe)
c.5297A>T (p.Tyr1766Phe)
c.5279A>T (p.Tyr1760Phe)
c.5207A>T (p.Tyr1736Phe)
c.5234A>T (p.Tyr1745Phe)
c.5237A>T (p.Tyr1746Phe)
c.5276A>T (p.Tyr1759Phe)
c.5246A>T (p.Tyr1749Phe)
n.2068A>T
c.5141A>T (p.Tyr1714Phe)
c.5204A>T (p.Tyr1735Phe)
c.5144A>T (p.Tyr1715Phe)
c.5342A>T (p.Tyr1781Phe)
c.5339A>T (p.Tyr1780Phe)
2g.71665288T>ACA347221164DYSFc.2715T>A (p.Tyr905Ter)
c.1932T>A (p.Tyr644Ter)
c.2040T>A (p.Tyr680Ter)
c.5184T>A (p.Tyr1728Ter)
c.5301T>A (p.Tyr1767Ter)
c.5187T>A (p.Tyr1729Ter)
c.5250T>A (p.Tyr1750Ter)
c.5298T>A (p.Tyr1766Ter)
c.5280T>A (p.Tyr1760Ter)
c.5208T>A (p.Tyr1736Ter)
c.5235T>A (p.Tyr1745Ter)
c.5238T>A (p.Tyr1746Ter)
c.5277T>A (p.Tyr1759Ter)
c.5247T>A (p.Tyr1749Ter)
n.2069T>A
c.5142T>A (p.Tyr1714Ter)
c.5205T>A (p.Tyr1735Ter)
c.5145T>A (p.Tyr1715Ter)
c.5343T>A (p.Tyr1781Ter)
c.5340T>A (p.Tyr1780Ter)
2g.71665288T>CCA426704083DYSFc.2715T>C (p.Tyr905=)
c.1932T>C (p.Tyr644=)
c.2040T>C (p.Tyr680=)
c.5184T>C (p.Tyr1728=)
c.5301T>C (p.Tyr1767=)
c.5187T>C (p.Tyr1729=)
c.5250T>C (p.Tyr1750=)
c.5298T>C (p.Tyr1766=)
c.5280T>C (p.Tyr1760=)
c.5208T>C (p.Tyr1736=)
c.5235T>C (p.Tyr1745=)
c.5238T>C (p.Tyr1746=)
c.5277T>C (p.Tyr1759=)
c.5247T>C (p.Tyr1749=)
n.2069T>C
c.5142T>C (p.Tyr1714=)
c.5205T>C (p.Tyr1735=)
c.5145T>C (p.Tyr1715=)
c.5343T>C (p.Tyr1781=)
c.5340T>C (p.Tyr1780=)
 ClinVar
2g.71665288T>GCA347221163DYSFc.2715T>G (p.Tyr905Ter)
c.1932T>G (p.Tyr644Ter)
c.2040T>G (p.Tyr680Ter)
c.5184T>G (p.Tyr1728Ter)
c.5301T>G (p.Tyr1767Ter)
c.5187T>G (p.Tyr1729Ter)
c.5250T>G (p.Tyr1750Ter)
c.5298T>G (p.Tyr1766Ter)
c.5280T>G (p.Tyr1760Ter)
c.5208T>G (p.Tyr1736Ter)
c.5235T>G (p.Tyr1745Ter)
c.5238T>G (p.Tyr1746Ter)
c.5277T>G (p.Tyr1759Ter)
c.5247T>G (p.Tyr1749Ter)
n.2069T>G
c.5142T>G (p.Tyr1714Ter)
c.5205T>G (p.Tyr1735Ter)
c.5145T>G (p.Tyr1715Ter)
c.5343T>G (p.Tyr1781Ter)
c.5340T>G (p.Tyr1780Ter)
2g.71665289T>ACA347221165DYSFc.2716T>A (p.Ser906Thr)
c.1933T>A (p.Ser645Thr)
c.2041T>A (p.Ser681Thr)
c.5185T>A (p.Ser1729Thr)
c.5302T>A (p.Ser1768Thr)
c.5188T>A (p.Ser1730Thr)
c.5251T>A (p.Ser1751Thr)
c.5299T>A (p.Ser1767Thr)
c.5281T>A (p.Ser1761Thr)
c.5209T>A (p.Ser1737Thr)
c.5236T>A (p.Ser1746Thr)
c.5239T>A (p.Ser1747Thr)
c.5278T>A (p.Ser1760Thr)
c.5248T>A (p.Ser1750Thr)
n.2070T>A
c.5143T>A (p.Ser1715Thr)
c.5206T>A (p.Ser1736Thr)
c.5146T>A (p.Ser1716Thr)
c.5344T>A (p.Ser1782Thr)
c.5341T>A (p.Ser1781Thr)
2g.71665289T>CCA1707312DYSFc.2716T>C (p.Ser906Pro)
c.1933T>C (p.Ser645Pro)
c.2041T>C (p.Ser681Pro)
c.5185T>C (p.Ser1729Pro)
c.5302T>C (p.Ser1768Pro)
c.5188T>C (p.Ser1730Pro)
c.5251T>C (p.Ser1751Pro)
c.5299T>C (p.Ser1767Pro)
c.5281T>C (p.Ser1761Pro)
c.5209T>C (p.Ser1737Pro)
c.5236T>C (p.Ser1746Pro)
c.5239T>C (p.Ser1747Pro)
c.5278T>C (p.Ser1760Pro)
c.5248T>C (p.Ser1750Pro)
n.2070T>C
c.5143T>C (p.Ser1715Pro)
c.5206T>C (p.Ser1736Pro)
c.5146T>C (p.Ser1716Pro)
c.5344T>C (p.Ser1782Pro)
c.5341T>C (p.Ser1781Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71665289T>GCA347221166DYSFc.2716T>G (p.Ser906Ala)
c.1933T>G (p.Ser645Ala)
c.2041T>G (p.Ser681Ala)
c.5185T>G (p.Ser1729Ala)
c.5302T>G (p.Ser1768Ala)
c.5188T>G (p.Ser1730Ala)
c.5251T>G (p.Ser1751Ala)
c.5299T>G (p.Ser1767Ala)
c.5281T>G (p.Ser1761Ala)
c.5209T>G (p.Ser1737Ala)
c.5236T>G (p.Ser1746Ala)
c.5239T>G (p.Ser1747Ala)
c.5278T>G (p.Ser1760Ala)
c.5248T>G (p.Ser1750Ala)
n.2070T>G
c.5143T>G (p.Ser1715Ala)
c.5206T>G (p.Ser1736Ala)
c.5146T>G (p.Ser1716Ala)
c.5344T>G (p.Ser1782Ala)
c.5341T>G (p.Ser1781Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.71665289T=CA1260150201DYSFc.2716T= (p.Ser906=)
c.1933T= (p.Ser645=)
c.2041T= (p.Ser681=)
c.5185T= (p.Ser1729=)
c.5302T= (p.Ser1768=)
c.5188T= (p.Ser1730=)
c.5251T= (p.Ser1751=)
c.5299T= (p.Ser1767=)
c.5281T= (p.Ser1761=)
c.5209T= (p.Ser1737=)
c.5236T= (p.Ser1746=)
c.5239T= (p.Ser1747=)
c.5278T= (p.Ser1760=)
c.5248T= (p.Ser1750=)
n.2070T=
c.5143T= (p.Ser1715=)
c.5206T= (p.Ser1736=)
c.5146T= (p.Ser1716=)
c.5344T= (p.Ser1782=)
c.5341T= (p.Ser1781=)
2g.71665290C>ACA347221167DYSFc.2717C>A (p.Ser906Tyr)
c.1934C>A (p.Ser645Tyr)
c.2042C>A (p.Ser681Tyr)
c.5186C>A (p.Ser1729Tyr)
c.5303C>A (p.Ser1768Tyr)
c.5189C>A (p.Ser1730Tyr)
c.5252C>A (p.Ser1751Tyr)
c.5300C>A (p.Ser1767Tyr)
c.5282C>A (p.Ser1761Tyr)
c.5210C>A (p.Ser1737Tyr)
c.5237C>A (p.Ser1746Tyr)
c.5240C>A (p.Ser1747Tyr)
c.5279C>A (p.Ser1760Tyr)
c.5249C>A (p.Ser1750Tyr)
n.2071C>A
c.5144C>A (p.Ser1715Tyr)
c.5207C>A (p.Ser1736Tyr)
c.5147C>A (p.Ser1716Tyr)
c.5345C>A (p.Ser1782Tyr)
c.5342C>A (p.Ser1781Tyr)
2g.71665290C>GCA347221168DYSFc.2717C>G (p.Ser906Cys)
c.1934C>G (p.Ser645Cys)
c.2042C>G (p.Ser681Cys)
c.5186C>G (p.Ser1729Cys)
c.5303C>G (p.Ser1768Cys)
c.5189C>G (p.Ser1730Cys)
c.5252C>G (p.Ser1751Cys)
c.5300C>G (p.Ser1767Cys)
c.5282C>G (p.Ser1761Cys)
c.5210C>G (p.Ser1737Cys)
c.5237C>G (p.Ser1746Cys)
c.5240C>G (p.Ser1747Cys)
c.5279C>G (p.Ser1760Cys)
c.5249C>G (p.Ser1750Cys)
n.2071C>G
c.5144C>G (p.Ser1715Cys)
c.5207C>G (p.Ser1736Cys)
c.5147C>G (p.Ser1716Cys)
c.5345C>G (p.Ser1782Cys)
c.5342C>G (p.Ser1781Cys)
2g.71665290C>TCA347221169DYSFc.2717C>T (p.Ser906Phe)
c.1934C>T (p.Ser645Phe)
c.2042C>T (p.Ser681Phe)
c.5186C>T (p.Ser1729Phe)
c.5303C>T (p.Ser1768Phe)
c.5189C>T (p.Ser1730Phe)
c.5252C>T (p.Ser1751Phe)
c.5300C>T (p.Ser1767Phe)
c.5282C>T (p.Ser1761Phe)
c.5210C>T (p.Ser1737Phe)
c.5237C>T (p.Ser1746Phe)
c.5240C>T (p.Ser1747Phe)
c.5279C>T (p.Ser1760Phe)
c.5249C>T (p.Ser1750Phe)
n.2071C>T
c.5144C>T (p.Ser1715Phe)
c.5207C>T (p.Ser1736Phe)
c.5147C>T (p.Ser1716Phe)
c.5345C>T (p.Ser1782Phe)
c.5342C>T (p.Ser1781Phe)
 COSMIC COSMIC
2g.71665291C>ACA1707313DYSFc.2718C>A (p.Ser906=)
c.1935C>A (p.Ser645=)
c.2043C>A (p.Ser681=)
c.5187C>A (p.Ser1729=)
c.5304C>A (p.Ser1768=)
c.5190C>A (p.Ser1730=)
c.5253C>A (p.Ser1751=)
c.5301C>A (p.Ser1767=)
c.5283C>A (p.Ser1761=)
c.5211C>A (p.Ser1737=)
c.5238C>A (p.Ser1746=)
c.5241C>A (p.Ser1747=)
c.5280C>A (p.Ser1760=)
c.5250C>A (p.Ser1750=)
n.2072C>A
c.5145C>A (p.Ser1715=)
c.5208C>A (p.Ser1736=)
c.5148C>A (p.Ser1716=)
c.5346C>A (p.Ser1782=)
c.5343C>A (p.Ser1781=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665291C=CA1260150202DYSFc.2718C= (p.Ser906=)
c.1935C= (p.Ser645=)
c.2043C= (p.Ser681=)
c.5187C= (p.Ser1729=)
c.5304C= (p.Ser1768=)
c.5190C= (p.Ser1730=)
c.5253C= (p.Ser1751=)
c.5301C= (p.Ser1767=)
c.5283C= (p.Ser1761=)
c.5211C= (p.Ser1737=)
c.5238C= (p.Ser1746=)
c.5241C= (p.Ser1747=)
c.5280C= (p.Ser1760=)
c.5250C= (p.Ser1750=)
n.2072C=
c.5145C= (p.Ser1715=)
c.5208C= (p.Ser1736=)
c.5148C= (p.Ser1716=)
c.5346C= (p.Ser1782=)
c.5343C= (p.Ser1781=)
2g.71665291C>GCA426704084DYSFc.2718C>G (p.Ser906=)
c.1935C>G (p.Ser645=)
c.2043C>G (p.Ser681=)
c.5187C>G (p.Ser1729=)
c.5304C>G (p.Ser1768=)
c.5190C>G (p.Ser1730=)
c.5253C>G (p.Ser1751=)
c.5301C>G (p.Ser1767=)
c.5283C>G (p.Ser1761=)
c.5211C>G (p.Ser1737=)
c.5238C>G (p.Ser1746=)
c.5241C>G (p.Ser1747=)
c.5280C>G (p.Ser1760=)
c.5250C>G (p.Ser1750=)
n.2072C>G
c.5145C>G (p.Ser1715=)
c.5208C>G (p.Ser1736=)
c.5148C>G (p.Ser1716=)
c.5346C>G (p.Ser1782=)
c.5343C>G (p.Ser1781=)
2g.71665291C>TCA426704085DYSFc.2718C>T (p.Ser906=)
c.1935C>T (p.Ser645=)
c.2043C>T (p.Ser681=)
c.5187C>T (p.Ser1729=)
c.5304C>T (p.Ser1768=)
c.5190C>T (p.Ser1730=)
c.5253C>T (p.Ser1751=)
c.5301C>T (p.Ser1767=)
c.5283C>T (p.Ser1761=)
c.5211C>T (p.Ser1737=)
c.5238C>T (p.Ser1746=)
c.5241C>T (p.Ser1747=)
c.5280C>T (p.Ser1760=)
c.5250C>T (p.Ser1750=)
n.2072C>T
c.5145C>T (p.Ser1715=)
c.5208C>T (p.Ser1736=)
c.5148C>T (p.Ser1716=)
c.5346C>T (p.Ser1782=)
c.5343C>T (p.Ser1781=)
 ClinVar dbSNP
2g.71665292A=CA1260150203DYSFc.2719A= (p.Ile907=)
c.1936A= (p.Ile646=)
c.2044A= (p.Ile682=)
c.5188A= (p.Ile1730=)
c.5305A= (p.Ile1769=)
c.5191A= (p.Ile1731=)
c.5254A= (p.Ile1752=)
c.5302A= (p.Ile1768=)
c.5284A= (p.Ile1762=)
c.5212A= (p.Ile1738=)
c.5239A= (p.Ile1747=)
c.5242A= (p.Ile1748=)
c.5281A= (p.Ile1761=)
c.5251A= (p.Ile1751=)
n.2073A=
c.5146A= (p.Ile1716=)
c.5209A= (p.Ile1737=)
c.5149A= (p.Ile1717=)
c.5347A= (p.Ile1783=)
c.5344A= (p.Ile1782=)
2g.71665292A>CCA347221170DYSFc.2719A>C (p.Ile907Leu)
c.1936A>C (p.Ile646Leu)
c.2044A>C (p.Ile682Leu)
c.5188A>C (p.Ile1730Leu)
c.5305A>C (p.Ile1769Leu)
c.5191A>C (p.Ile1731Leu)
c.5254A>C (p.Ile1752Leu)
c.5302A>C (p.Ile1768Leu)
c.5284A>C (p.Ile1762Leu)
c.5212A>C (p.Ile1738Leu)
c.5239A>C (p.Ile1747Leu)
c.5242A>C (p.Ile1748Leu)
c.5281A>C (p.Ile1761Leu)
c.5251A>C (p.Ile1751Leu)
n.2073A>C
c.5146A>C (p.Ile1716Leu)
c.5209A>C (p.Ile1737Leu)
c.5149A>C (p.Ile1717Leu)
c.5347A>C (p.Ile1783Leu)
c.5344A>C (p.Ile1782Leu)
2g.71665292A>GCA1707314DYSFc.2719A>G (p.Ile907Val)
c.1936A>G (p.Ile646Val)
c.2044A>G (p.Ile682Val)
c.5188A>G (p.Ile1730Val)
c.5305A>G (p.Ile1769Val)
c.5191A>G (p.Ile1731Val)
c.5254A>G (p.Ile1752Val)
c.5302A>G (p.Ile1768Val)
c.5284A>G (p.Ile1762Val)
c.5212A>G (p.Ile1738Val)
c.5239A>G (p.Ile1747Val)
c.5242A>G (p.Ile1748Val)
c.5281A>G (p.Ile1761Val)
c.5251A>G (p.Ile1751Val)
n.2073A>G
c.5146A>G (p.Ile1716Val)
c.5209A>G (p.Ile1737Val)
c.5149A>G (p.Ile1717Val)
c.5347A>G (p.Ile1783Val)
c.5344A>G (p.Ile1782Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71665292A>TCA347221171DYSFc.2719A>T (p.Ile907Phe)
c.1936A>T (p.Ile646Phe)
c.2044A>T (p.Ile682Phe)
c.5188A>T (p.Ile1730Phe)
c.5305A>T (p.Ile1769Phe)
c.5191A>T (p.Ile1731Phe)
c.5254A>T (p.Ile1752Phe)
c.5302A>T (p.Ile1768Phe)
c.5284A>T (p.Ile1762Phe)
c.5212A>T (p.Ile1738Phe)
c.5239A>T (p.Ile1747Phe)
c.5242A>T (p.Ile1748Phe)
c.5281A>T (p.Ile1761Phe)
c.5251A>T (p.Ile1751Phe)
n.2073A>T
c.5146A>T (p.Ile1716Phe)
c.5209A>T (p.Ile1737Phe)
c.5149A>T (p.Ile1717Phe)
c.5347A>T (p.Ile1783Phe)
c.5344A>T (p.Ile1782Phe)
2g.71665293T>ACA347221172DYSFc.2720T>A (p.Ile907Asn)
c.1937T>A (p.Ile646Asn)
c.2045T>A (p.Ile682Asn)
c.5189T>A (p.Ile1730Asn)
c.5306T>A (p.Ile1769Asn)
c.5192T>A (p.Ile1731Asn)
c.5255T>A (p.Ile1752Asn)
c.5303T>A (p.Ile1768Asn)
c.5285T>A (p.Ile1762Asn)
c.5213T>A (p.Ile1738Asn)
c.5240T>A (p.Ile1747Asn)
c.5243T>A (p.Ile1748Asn)
c.5282T>A (p.Ile1761Asn)
c.5252T>A (p.Ile1751Asn)
n.2074T>A
c.5147T>A (p.Ile1716Asn)
c.5210T>A (p.Ile1737Asn)
c.5150T>A (p.Ile1717Asn)
c.5348T>A (p.Ile1783Asn)
c.5345T>A (p.Ile1782Asn)
2g.71665293T>CCA10604311DYSFc.2720T>C (p.Ile907Thr)
c.1937T>C (p.Ile646Thr)
c.2045T>C (p.Ile682Thr)
c.5189T>C (p.Ile1730Thr)
c.5306T>C (p.Ile1769Thr)
c.5192T>C (p.Ile1731Thr)
c.5255T>C (p.Ile1752Thr)
c.5303T>C (p.Ile1768Thr)
c.5285T>C (p.Ile1762Thr)
c.5213T>C (p.Ile1738Thr)
c.5240T>C (p.Ile1747Thr)
c.5243T>C (p.Ile1748Thr)
c.5282T>C (p.Ile1761Thr)
c.5252T>C (p.Ile1751Thr)
n.2074T>C
c.5147T>C (p.Ile1716Thr)
c.5210T>C (p.Ile1737Thr)
c.5150T>C (p.Ile1717Thr)
c.5348T>C (p.Ile1783Thr)
c.5345T>C (p.Ile1782Thr)
 ClinVar dbSNP gnomAD v4
2g.71665293T>GCA347221173DYSFc.2720T>G (p.Ile907Ser)
c.1937T>G (p.Ile646Ser)
c.2045T>G (p.Ile682Ser)
c.5189T>G (p.Ile1730Ser)
c.5306T>G (p.Ile1769Ser)
c.5192T>G (p.Ile1731Ser)
c.5255T>G (p.Ile1752Ser)
c.5303T>G (p.Ile1768Ser)
c.5285T>G (p.Ile1762Ser)
c.5213T>G (p.Ile1738Ser)
c.5240T>G (p.Ile1747Ser)
c.5243T>G (p.Ile1748Ser)
c.5282T>G (p.Ile1761Ser)
c.5252T>G (p.Ile1751Ser)
n.2074T>G
c.5147T>G (p.Ile1716Ser)
c.5210T>G (p.Ile1737Ser)
c.5150T>G (p.Ile1717Ser)
c.5348T>G (p.Ile1783Ser)
c.5345T>G (p.Ile1782Ser)
 dbSNP gnomAD v4
2g.71665293T=CA1260150204DYSFc.2720T= (p.Ile907=)
c.1937T= (p.Ile646=)
c.2045T= (p.Ile682=)
c.5189T= (p.Ile1730=)
c.5306T= (p.Ile1769=)
c.5192T= (p.Ile1731=)
c.5255T= (p.Ile1752=)
c.5303T= (p.Ile1768=)
c.5285T= (p.Ile1762=)
c.5213T= (p.Ile1738=)
c.5240T= (p.Ile1747=)
c.5243T= (p.Ile1748=)
c.5282T= (p.Ile1761=)
c.5252T= (p.Ile1751=)
n.2074T=
c.5147T= (p.Ile1716=)
c.5210T= (p.Ile1737=)
c.5150T= (p.Ile1717=)
c.5348T= (p.Ile1783=)
c.5345T= (p.Ile1782=)
2g.71665294T>ACA426704086DYSFc.2721T>A (p.Ile907=)
c.1938T>A (p.Ile646=)
c.2046T>A (p.Ile682=)
c.5190T>A (p.Ile1730=)
c.5307T>A (p.Ile1769=)
c.5193T>A (p.Ile1731=)
c.5256T>A (p.Ile1752=)
c.5304T>A (p.Ile1768=)
c.5286T>A (p.Ile1762=)
c.5214T>A (p.Ile1738=)
c.5241T>A (p.Ile1747=)
c.5244T>A (p.Ile1748=)
c.5283T>A (p.Ile1761=)
c.5253T>A (p.Ile1751=)
n.2075T>A
c.5148T>A (p.Ile1716=)
c.5211T>A (p.Ile1737=)
c.5151T>A (p.Ile1717=)
c.5349T>A (p.Ile1783=)
c.5346T>A (p.Ile1782=)
2g.71665294T>CCA426704087DYSFc.2721T>C (p.Ile907=)
c.1938T>C (p.Ile646=)
c.2046T>C (p.Ile682=)
c.5190T>C (p.Ile1730=)
c.5307T>C (p.Ile1769=)
c.5193T>C (p.Ile1731=)
c.5256T>C (p.Ile1752=)
c.5304T>C (p.Ile1768=)
c.5286T>C (p.Ile1762=)
c.5214T>C (p.Ile1738=)
c.5241T>C (p.Ile1747=)
c.5244T>C (p.Ile1748=)
c.5283T>C (p.Ile1761=)
c.5253T>C (p.Ile1751=)
n.2075T>C
c.5148T>C (p.Ile1716=)
c.5211T>C (p.Ile1737=)
c.5151T>C (p.Ile1717=)
c.5349T>C (p.Ile1783=)
c.5346T>C (p.Ile1782=)
2g.71665294T>GCA347221174DYSFc.2721T>G (p.Ile907Met)
c.1938T>G (p.Ile646Met)
c.2046T>G (p.Ile682Met)
c.5190T>G (p.Ile1730Met)
c.5307T>G (p.Ile1769Met)
c.5193T>G (p.Ile1731Met)
c.5256T>G (p.Ile1752Met)
c.5304T>G (p.Ile1768Met)
c.5286T>G (p.Ile1762Met)
c.5214T>G (p.Ile1738Met)
c.5241T>G (p.Ile1747Met)
c.5244T>G (p.Ile1748Met)
c.5283T>G (p.Ile1761Met)
c.5253T>G (p.Ile1751Met)
n.2075T>G
c.5148T>G (p.Ile1716Met)
c.5211T>G (p.Ile1737Met)
c.5151T>G (p.Ile1717Met)
c.5349T>G (p.Ile1783Met)
c.5346T>G (p.Ile1782Met)
2g.71665295G>ACA347221177DYSFc.2722G>A (p.Glu908Lys)
c.1939G>A (p.Glu647Lys)
c.2047G>A (p.Glu683Lys)
c.5191G>A (p.Glu1731Lys)
c.5308G>A (p.Glu1770Lys)
c.5194G>A (p.Glu1732Lys)
c.5257G>A (p.Glu1753Lys)
c.5305G>A (p.Glu1769Lys)
c.5287G>A (p.Glu1763Lys)
c.5215G>A (p.Glu1739Lys)
c.5242G>A (p.Glu1748Lys)
c.5245G>A (p.Glu1749Lys)
c.5284G>A (p.Glu1762Lys)
c.5254G>A (p.Glu1752Lys)
n.2076G>A
c.5149G>A (p.Glu1717Lys)
c.5212G>A (p.Glu1738Lys)
c.5152G>A (p.Glu1718Lys)
c.5350G>A (p.Glu1784Lys)
c.5347G>A (p.Glu1783Lys)
2g.71665295G>CCA347221176DYSFc.2722G>C (p.Glu908Gln)
c.1939G>C (p.Glu647Gln)
c.2047G>C (p.Glu683Gln)
c.5191G>C (p.Glu1731Gln)
c.5308G>C (p.Glu1770Gln)
c.5194G>C (p.Glu1732Gln)
c.5257G>C (p.Glu1753Gln)
c.5305G>C (p.Glu1769Gln)
c.5287G>C (p.Glu1763Gln)
c.5215G>C (p.Glu1739Gln)
c.5242G>C (p.Glu1748Gln)
c.5245G>C (p.Glu1749Gln)
c.5284G>C (p.Glu1762Gln)
c.5254G>C (p.Glu1752Gln)
n.2076G>C
c.5149G>C (p.Glu1717Gln)
c.5212G>C (p.Glu1738Gln)
c.5152G>C (p.Glu1718Gln)
c.5350G>C (p.Glu1784Gln)
c.5347G>C (p.Glu1783Gln)
2g.71665295G=CA1260150205DYSFc.2722G= (p.Glu908=)
c.1939G= (p.Glu647=)
c.2047G= (p.Glu683=)
c.5191G= (p.Glu1731=)
c.5308G= (p.Glu1770=)
c.5194G= (p.Glu1732=)
c.5257G= (p.Glu1753=)
c.5305G= (p.Glu1769=)
c.5287G= (p.Glu1763=)
c.5215G= (p.Glu1739=)
c.5242G= (p.Glu1748=)
c.5245G= (p.Glu1749=)
c.5284G= (p.Glu1762=)
c.5254G= (p.Glu1752=)
n.2076G=
c.5149G= (p.Glu1717=)
c.5212G= (p.Glu1738=)
c.5152G= (p.Glu1718=)
c.5350G= (p.Glu1784=)
c.5347G= (p.Glu1783=)
2g.71665295G>TCA347221175DYSFc.2722G>T (p.Glu908Ter)
c.1939G>T (p.Glu647Ter)
c.2047G>T (p.Glu683Ter)
c.5191G>T (p.Glu1731Ter)
c.5308G>T (p.Glu1770Ter)
c.5194G>T (p.Glu1732Ter)
c.5257G>T (p.Glu1753Ter)
c.5305G>T (p.Glu1769Ter)
c.5287G>T (p.Glu1763Ter)
c.5215G>T (p.Glu1739Ter)
c.5242G>T (p.Glu1748Ter)
c.5245G>T (p.Glu1749Ter)
c.5284G>T (p.Glu1762Ter)
c.5254G>T (p.Glu1752Ter)
n.2076G>T
c.5149G>T (p.Glu1717Ter)
c.5212G>T (p.Glu1738Ter)
c.5152G>T (p.Glu1718Ter)
c.5350G>T (p.Glu1784Ter)
c.5347G>T (p.Glu1783Ter)
 ClinVar dbSNP gnomAD v4
2g.71665296A>CCA347221178DYSFc.2723A>C (p.Glu908Ala)
c.1940A>C (p.Glu647Ala)
c.2048A>C (p.Glu683Ala)
c.5192A>C (p.Glu1731Ala)
c.5309A>C (p.Glu1770Ala)
c.5195A>C (p.Glu1732Ala)
c.5258A>C (p.Glu1753Ala)
c.5306A>C (p.Glu1769Ala)
c.5288A>C (p.Glu1763Ala)
c.5216A>C (p.Glu1739Ala)
c.5243A>C (p.Glu1748Ala)
c.5246A>C (p.Glu1749Ala)
c.5285A>C (p.Glu1762Ala)
c.5255A>C (p.Glu1752Ala)
n.2077A>C
c.5150A>C (p.Glu1717Ala)
c.5213A>C (p.Glu1738Ala)
c.5153A>C (p.Glu1718Ala)
c.5351A>C (p.Glu1784Ala)
c.5348A>C (p.Glu1783Ala)
2g.71665296A>GCA347221179DYSFc.2723A>G (p.Glu908Gly)
c.1940A>G (p.Glu647Gly)
c.2048A>G (p.Glu683Gly)
c.5192A>G (p.Glu1731Gly)
c.5309A>G (p.Glu1770Gly)
c.5195A>G (p.Glu1732Gly)
c.5258A>G (p.Glu1753Gly)
c.5306A>G (p.Glu1769Gly)
c.5288A>G (p.Glu1763Gly)
c.5216A>G (p.Glu1739Gly)
c.5243A>G (p.Glu1748Gly)
c.5246A>G (p.Glu1749Gly)
c.5285A>G (p.Glu1762Gly)
c.5255A>G (p.Glu1752Gly)
n.2077A>G
c.5150A>G (p.Glu1717Gly)
c.5213A>G (p.Glu1738Gly)
c.5153A>G (p.Glu1718Gly)
c.5351A>G (p.Glu1784Gly)
c.5348A>G (p.Glu1783Gly)
2g.71665296A>TCA347221180DYSFc.2723A>T (p.Glu908Val)
c.1940A>T (p.Glu647Val)
c.2048A>T (p.Glu683Val)
c.5192A>T (p.Glu1731Val)
c.5309A>T (p.Glu1770Val)
c.5195A>T (p.Glu1732Val)
c.5258A>T (p.Glu1753Val)
c.5306A>T (p.Glu1769Val)
c.5288A>T (p.Glu1763Val)
c.5216A>T (p.Glu1739Val)
c.5243A>T (p.Glu1748Val)
c.5246A>T (p.Glu1749Val)
c.5285A>T (p.Glu1762Val)
c.5255A>T (p.Glu1752Val)
n.2077A>T
c.5150A>T (p.Glu1717Val)
c.5213A>T (p.Glu1738Val)
c.5153A>T (p.Glu1718Val)
c.5351A>T (p.Glu1784Val)
c.5348A>T (p.Glu1783Val)
2g.71665297A=CA1260150206DYSFc.2724A= (p.Glu908=)
c.1941A= (p.Glu647=)
c.2049A= (p.Glu683=)
c.5193A= (p.Glu1731=)
c.5310A= (p.Glu1770=)
c.5196A= (p.Glu1732=)
c.5259A= (p.Glu1753=)
c.5307A= (p.Glu1769=)
c.5289A= (p.Glu1763=)
c.5217A= (p.Glu1739=)
c.5244A= (p.Glu1748=)
c.5247A= (p.Glu1749=)
c.5286A= (p.Glu1762=)
c.5256A= (p.Glu1752=)
n.2078A=
c.5151A= (p.Glu1717=)
c.5214A= (p.Glu1738=)
c.5154A= (p.Glu1718=)
c.5352A= (p.Glu1784=)
c.5349A= (p.Glu1783=)
2g.71665297A>CCA347221181DYSFc.2724A>C (p.Glu908Asp)
c.1941A>C (p.Glu647Asp)
c.2049A>C (p.Glu683Asp)
c.5193A>C (p.Glu1731Asp)
c.5310A>C (p.Glu1770Asp)
c.5196A>C (p.Glu1732Asp)
c.5259A>C (p.Glu1753Asp)
c.5307A>C (p.Glu1769Asp)
c.5289A>C (p.Glu1763Asp)
c.5217A>C (p.Glu1739Asp)
c.5244A>C (p.Glu1748Asp)
c.5247A>C (p.Glu1749Asp)
c.5286A>C (p.Glu1762Asp)
c.5256A>C (p.Glu1752Asp)
n.2078A>C
c.5151A>C (p.Glu1717Asp)
c.5214A>C (p.Glu1738Asp)
c.5154A>C (p.Glu1718Asp)
c.5352A>C (p.Glu1784Asp)
c.5349A>C (p.Glu1783Asp)
2g.71665297A>GCA1707315DYSFc.2724A>G (p.Glu908=)
c.1941A>G (p.Glu647=)
c.2049A>G (p.Glu683=)
c.5193A>G (p.Glu1731=)
c.5310A>G (p.Glu1770=)
c.5196A>G (p.Glu1732=)
c.5259A>G (p.Glu1753=)
c.5307A>G (p.Glu1769=)
c.5289A>G (p.Glu1763=)
c.5217A>G (p.Glu1739=)
c.5244A>G (p.Glu1748=)
c.5247A>G (p.Glu1749=)
c.5286A>G (p.Glu1762=)
c.5256A>G (p.Glu1752=)
n.2078A>G
c.5151A>G (p.Glu1717=)
c.5214A>G (p.Glu1738=)
c.5154A>G (p.Glu1718=)
c.5352A>G (p.Glu1784=)
c.5349A>G (p.Glu1783=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665297A>TCA347221182DYSFc.2724A>T (p.Glu908Asp)
c.1941A>T (p.Glu647Asp)
c.2049A>T (p.Glu683Asp)
c.5193A>T (p.Glu1731Asp)
c.5310A>T (p.Glu1770Asp)
c.5196A>T (p.Glu1732Asp)
c.5259A>T (p.Glu1753Asp)
c.5307A>T (p.Glu1769Asp)
c.5289A>T (p.Glu1763Asp)
c.5217A>T (p.Glu1739Asp)
c.5244A>T (p.Glu1748Asp)
c.5247A>T (p.Glu1749Asp)
c.5286A>T (p.Glu1762Asp)
c.5256A>T (p.Glu1752Asp)
n.2078A>T
c.5151A>T (p.Glu1717Asp)
c.5214A>T (p.Glu1738Asp)
c.5154A>T (p.Glu1718Asp)
c.5352A>T (p.Glu1784Asp)
c.5349A>T (p.Glu1783Asp)
2g.71665298G>ACA347221183DYSFc.2725G>A (p.Glu909Lys)
c.1942G>A (p.Glu648Lys)
c.2050G>A (p.Glu684Lys)
c.5194G>A (p.Glu1732Lys)
c.5311G>A (p.Glu1771Lys)
c.5197G>A (p.Glu1733Lys)
c.5260G>A (p.Glu1754Lys)
c.5308G>A (p.Glu1770Lys)
c.5290G>A (p.Glu1764Lys)
c.5218G>A (p.Glu1740Lys)
c.5245G>A (p.Glu1749Lys)
c.5248G>A (p.Glu1750Lys)
c.5287G>A (p.Glu1763Lys)
c.5257G>A (p.Glu1753Lys)
n.2079G>A
c.5152G>A (p.Glu1718Lys)
c.5215G>A (p.Glu1739Lys)
c.5155G>A (p.Glu1719Lys)
c.5353G>A (p.Glu1785Lys)
c.5350G>A (p.Glu1784Lys)
2g.71665298G>CCA1707316DYSFc.2725G>C (p.Glu909Gln)
c.1942G>C (p.Glu648Gln)
c.2050G>C (p.Glu684Gln)
c.5194G>C (p.Glu1732Gln)
c.5311G>C (p.Glu1771Gln)
c.5197G>C (p.Glu1733Gln)
c.5260G>C (p.Glu1754Gln)
c.5308G>C (p.Glu1770Gln)
c.5290G>C (p.Glu1764Gln)
c.5218G>C (p.Glu1740Gln)
c.5245G>C (p.Glu1749Gln)
c.5248G>C (p.Glu1750Gln)
c.5287G>C (p.Glu1763Gln)
c.5257G>C (p.Glu1753Gln)
n.2079G>C
c.5152G>C (p.Glu1718Gln)
c.5215G>C (p.Glu1739Gln)
c.5155G>C (p.Glu1719Gln)
c.5353G>C (p.Glu1785Gln)
c.5350G>C (p.Glu1784Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71665298G=CA1260150207DYSFc.2725G= (p.Glu909=)
c.1942G= (p.Glu648=)
c.2050G= (p.Glu684=)
c.5194G= (p.Glu1732=)
c.5311G= (p.Glu1771=)
c.5197G= (p.Glu1733=)
c.5260G= (p.Glu1754=)
c.5308G= (p.Glu1770=)
c.5290G= (p.Glu1764=)
c.5218G= (p.Glu1740=)
c.5245G= (p.Glu1749=)
c.5248G= (p.Glu1750=)
c.5287G= (p.Glu1763=)
c.5257G= (p.Glu1753=)
n.2079G=
c.5152G= (p.Glu1718=)
c.5215G= (p.Glu1739=)
c.5155G= (p.Glu1719=)
c.5353G= (p.Glu1785=)
c.5350G= (p.Glu1784=)
2g.71665298G>TCA347221184DYSFc.2725G>T (p.Glu909Ter)
c.1942G>T (p.Glu648Ter)
c.2050G>T (p.Glu684Ter)
c.5194G>T (p.Glu1732Ter)
c.5311G>T (p.Glu1771Ter)
c.5197G>T (p.Glu1733Ter)
c.5260G>T (p.Glu1754Ter)
c.5308G>T (p.Glu1770Ter)
c.5290G>T (p.Glu1764Ter)
c.5218G>T (p.Glu1740Ter)
c.5245G>T (p.Glu1749Ter)
c.5248G>T (p.Glu1750Ter)
c.5287G>T (p.Glu1763Ter)
c.5257G>T (p.Glu1753Ter)
n.2079G>T
c.5152G>T (p.Glu1718Ter)
c.5215G>T (p.Glu1739Ter)
c.5155G>T (p.Glu1719Ter)
c.5353G>T (p.Glu1785Ter)
c.5350G>T (p.Glu1784Ter)
 ClinVar dbSNP
2g.71665299A=CA1260150208DYSFc.2726A= (p.Glu909=)
c.1943A= (p.Glu648=)
c.2051A= (p.Glu684=)
c.5195A= (p.Glu1732=)
c.5312A= (p.Glu1771=)
c.5198A= (p.Glu1733=)
c.5261A= (p.Glu1754=)
c.5309A= (p.Glu1770=)
c.5291A= (p.Glu1764=)
c.5219A= (p.Glu1740=)
c.5246A= (p.Glu1749=)
c.5249A= (p.Glu1750=)
c.5288A= (p.Glu1763=)
c.5258A= (p.Glu1753=)
n.2080A=
c.5153A= (p.Glu1718=)
c.5216A= (p.Glu1739=)
c.5156A= (p.Glu1719=)
c.5354A= (p.Glu1785=)
c.5351A= (p.Glu1784=)
2g.71665299A>CCA347221185DYSFc.2726A>C (p.Glu909Ala)
c.1943A>C (p.Glu648Ala)
c.2051A>C (p.Glu684Ala)
c.5195A>C (p.Glu1732Ala)
c.5312A>C (p.Glu1771Ala)
c.5198A>C (p.Glu1733Ala)
c.5261A>C (p.Glu1754Ala)
c.5309A>C (p.Glu1770Ala)
c.5291A>C (p.Glu1764Ala)
c.5219A>C (p.Glu1740Ala)
c.5246A>C (p.Glu1749Ala)
c.5249A>C (p.Glu1750Ala)
c.5288A>C (p.Glu1763Ala)
c.5258A>C (p.Glu1753Ala)
n.2080A>C
c.5153A>C (p.Glu1718Ala)
c.5216A>C (p.Glu1739Ala)
c.5156A>C (p.Glu1719Ala)
c.5354A>C (p.Glu1785Ala)
c.5351A>C (p.Glu1784Ala)
2g.71665299A>GCA49767381DYSFc.2726A>G (p.Glu909Gly)
c.1943A>G (p.Glu648Gly)
c.2051A>G (p.Glu684Gly)
c.5195A>G (p.Glu1732Gly)
c.5312A>G (p.Glu1771Gly)
c.5198A>G (p.Glu1733Gly)
c.5261A>G (p.Glu1754Gly)
c.5309A>G (p.Glu1770Gly)
c.5291A>G (p.Glu1764Gly)
c.5219A>G (p.Glu1740Gly)
c.5246A>G (p.Glu1749Gly)
c.5249A>G (p.Glu1750Gly)
c.5288A>G (p.Glu1763Gly)
c.5258A>G (p.Glu1753Gly)
n.2080A>G
c.5153A>G (p.Glu1718Gly)
c.5216A>G (p.Glu1739Gly)
c.5156A>G (p.Glu1719Gly)
c.5354A>G (p.Glu1785Gly)
c.5351A>G (p.Glu1784Gly)
 dbSNP COSMIC COSMIC
2g.71665299A>TCA347221186DYSFc.2726A>T (p.Glu909Val)
c.1943A>T (p.Glu648Val)
c.2051A>T (p.Glu684Val)
c.5195A>T (p.Glu1732Val)
c.5312A>T (p.Glu1771Val)
c.5198A>T (p.Glu1733Val)
c.5261A>T (p.Glu1754Val)
c.5309A>T (p.Glu1770Val)
c.5291A>T (p.Glu1764Val)
c.5219A>T (p.Glu1740Val)
c.5246A>T (p.Glu1749Val)
c.5249A>T (p.Glu1750Val)
c.5288A>T (p.Glu1763Val)
c.5258A>T (p.Glu1753Val)
n.2080A>T
c.5153A>T (p.Glu1718Val)
c.5216A>T (p.Glu1739Val)
c.5156A>T (p.Glu1719Val)
c.5354A>T (p.Glu1785Val)
c.5351A>T (p.Glu1784Val)
2g.71665300G>ACA426704088DYSFc.2727G>A (p.Glu909=)
c.1944G>A (p.Glu648=)
c.2052G>A (p.Glu684=)
c.5196G>A (p.Glu1732=)
c.5313G>A (p.Glu1771=)
c.5199G>A (p.Glu1733=)
c.5262G>A (p.Glu1754=)
c.5310G>A (p.Glu1770=)
c.5292G>A (p.Glu1764=)
c.5220G>A (p.Glu1740=)
c.5247G>A (p.Glu1749=)
c.5250G>A (p.Glu1750=)
c.5289G>A (p.Glu1763=)
c.5259G>A (p.Glu1753=)
n.2081G>A
c.5154G>A (p.Glu1718=)
c.5217G>A (p.Glu1739=)
c.5157G>A (p.Glu1719=)
c.5355G>A (p.Glu1785=)
c.5352G>A (p.Glu1784=)
 COSMIC COSMIC
2g.71665300G>CCA347221188DYSFc.2727G>C (p.Glu909Asp)
c.1944G>C (p.Glu648Asp)
c.2052G>C (p.Glu684Asp)
c.5196G>C (p.Glu1732Asp)
c.5313G>C (p.Glu1771Asp)
c.5199G>C (p.Glu1733Asp)
c.5262G>C (p.Glu1754Asp)
c.5310G>C (p.Glu1770Asp)
c.5292G>C (p.Glu1764Asp)
c.5220G>C (p.Glu1740Asp)
c.5247G>C (p.Glu1749Asp)
c.5250G>C (p.Glu1750Asp)
c.5289G>C (p.Glu1763Asp)
c.5259G>C (p.Glu1753Asp)
n.2081G>C
c.5154G>C (p.Glu1718Asp)
c.5217G>C (p.Glu1739Asp)
c.5157G>C (p.Glu1719Asp)
c.5355G>C (p.Glu1785Asp)
c.5352G>C (p.Glu1784Asp)
2g.71665300G>TCA347221187DYSFc.2727G>T (p.Glu909Asp)
c.1944G>T (p.Glu648Asp)
c.2052G>T (p.Glu684Asp)
c.5196G>T (p.Glu1732Asp)
c.5313G>T (p.Glu1771Asp)
c.5199G>T (p.Glu1733Asp)
c.5262G>T (p.Glu1754Asp)
c.5310G>T (p.Glu1770Asp)
c.5292G>T (p.Glu1764Asp)
c.5220G>T (p.Glu1740Asp)
c.5247G>T (p.Glu1749Asp)
c.5250G>T (p.Glu1750Asp)
c.5289G>T (p.Glu1763Asp)
c.5259G>T (p.Glu1753Asp)
n.2081G>T
c.5154G>T (p.Glu1718Asp)
c.5217G>T (p.Glu1739Asp)
c.5157G>T (p.Glu1719Asp)
c.5355G>T (p.Glu1785Asp)
c.5352G>T (p.Glu1784Asp)
2g.71665301A=CA1260150209DYSFc.2728A= (p.Ile910=)
c.1945A= (p.Ile649=)
c.2053A= (p.Ile685=)
c.5197A= (p.Ile1733=)
c.5314A= (p.Ile1772=)
c.5200A= (p.Ile1734=)
c.5263A= (p.Ile1755=)
c.5311A= (p.Ile1771=)
c.5293A= (p.Ile1765=)
c.5221A= (p.Ile1741=)
c.5248A= (p.Ile1750=)
c.5251A= (p.Ile1751=)
c.5290A= (p.Ile1764=)
c.5260A= (p.Ile1754=)
n.2082A=
c.5155A= (p.Ile1719=)
c.5218A= (p.Ile1740=)
c.5158A= (p.Ile1720=)
c.5356A= (p.Ile1786=)
c.5353A= (p.Ile1785=)
2g.71665301A>CCA347221189DYSFc.2728A>C (p.Ile910Leu)
c.1945A>C (p.Ile649Leu)
c.2053A>C (p.Ile685Leu)
c.5197A>C (p.Ile1733Leu)
c.5314A>C (p.Ile1772Leu)
c.5200A>C (p.Ile1734Leu)
c.5263A>C (p.Ile1755Leu)
c.5311A>C (p.Ile1771Leu)
c.5293A>C (p.Ile1765Leu)
c.5221A>C (p.Ile1741Leu)
c.5248A>C (p.Ile1750Leu)
c.5251A>C (p.Ile1751Leu)
c.5290A>C (p.Ile1764Leu)
c.5260A>C (p.Ile1754Leu)
n.2082A>C
c.5155A>C (p.Ile1719Leu)
c.5218A>C (p.Ile1740Leu)
c.5158A>C (p.Ile1720Leu)
c.5356A>C (p.Ile1786Leu)
c.5353A>C (p.Ile1785Leu)
2g.71665301A>GCA347221190DYSFc.2728A>G (p.Ile910Val)
c.1945A>G (p.Ile649Val)
c.2053A>G (p.Ile685Val)
c.5197A>G (p.Ile1733Val)
c.5314A>G (p.Ile1772Val)
c.5200A>G (p.Ile1734Val)
c.5263A>G (p.Ile1755Val)
c.5311A>G (p.Ile1771Val)
c.5293A>G (p.Ile1765Val)
c.5221A>G (p.Ile1741Val)
c.5248A>G (p.Ile1750Val)
c.5251A>G (p.Ile1751Val)
c.5290A>G (p.Ile1764Val)
c.5260A>G (p.Ile1754Val)
n.2082A>G
c.5155A>G (p.Ile1719Val)
c.5218A>G (p.Ile1740Val)
c.5158A>G (p.Ile1720Val)
c.5356A>G (p.Ile1786Val)
c.5353A>G (p.Ile1785Val)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.71665301A>TCA1707317DYSFc.2728A>T (p.Ile910Leu)
c.1945A>T (p.Ile649Leu)
c.2053A>T (p.Ile685Leu)
c.5197A>T (p.Ile1733Leu)
c.5314A>T (p.Ile1772Leu)
c.5200A>T (p.Ile1734Leu)
c.5263A>T (p.Ile1755Leu)
c.5311A>T (p.Ile1771Leu)
c.5293A>T (p.Ile1765Leu)
c.5221A>T (p.Ile1741Leu)
c.5248A>T (p.Ile1750Leu)
c.5251A>T (p.Ile1751Leu)
c.5290A>T (p.Ile1764Leu)
c.5260A>T (p.Ile1754Leu)
n.2082A>T
c.5155A>T (p.Ile1719Leu)
c.5218A>T (p.Ile1740Leu)
c.5158A>T (p.Ile1720Leu)
c.5356A>T (p.Ile1786Leu)
c.5353A>T (p.Ile1785Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71665302T>ACA347221191DYSFc.2729T>A (p.Ile910Lys)
c.1946T>A (p.Ile649Lys)
c.2054T>A (p.Ile685Lys)
c.5198T>A (p.Ile1733Lys)
c.5315T>A (p.Ile1772Lys)
c.5201T>A (p.Ile1734Lys)
c.5264T>A (p.Ile1755Lys)
c.5312T>A (p.Ile1771Lys)
c.5294T>A (p.Ile1765Lys)
c.5222T>A (p.Ile1741Lys)
c.5249T>A (p.Ile1750Lys)
c.5252T>A (p.Ile1751Lys)
c.5291T>A (p.Ile1764Lys)
c.5261T>A (p.Ile1754Lys)
n.2083T>A
c.5156T>A (p.Ile1719Lys)
c.5219T>A (p.Ile1740Lys)
c.5159T>A (p.Ile1720Lys)
c.5357T>A (p.Ile1786Lys)
c.5354T>A (p.Ile1785Lys)
2g.71665302T>CCA10605555DYSFc.2729T>C (p.Ile910Thr)
c.1946T>C (p.Ile649Thr)
c.2054T>C (p.Ile685Thr)
c.5198T>C (p.Ile1733Thr)
c.5315T>C (p.Ile1772Thr)
c.5201T>C (p.Ile1734Thr)
c.5264T>C (p.Ile1755Thr)
c.5312T>C (p.Ile1771Thr)
c.5294T>C (p.Ile1765Thr)
c.5222T>C (p.Ile1741Thr)
c.5249T>C (p.Ile1750Thr)
c.5252T>C (p.Ile1751Thr)
c.5291T>C (p.Ile1764Thr)
c.5261T>C (p.Ile1754Thr)
n.2083T>C
c.5156T>C (p.Ile1719Thr)
c.5219T>C (p.Ile1740Thr)
c.5159T>C (p.Ile1720Thr)
c.5357T>C (p.Ile1786Thr)
c.5354T>C (p.Ile1785Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71665302T>GCA347221192DYSFc.2729T>G (p.Ile910Arg)
c.1946T>G (p.Ile649Arg)
c.2054T>G (p.Ile685Arg)
c.5198T>G (p.Ile1733Arg)
c.5315T>G (p.Ile1772Arg)
c.5201T>G (p.Ile1734Arg)
c.5264T>G (p.Ile1755Arg)
c.5312T>G (p.Ile1771Arg)
c.5294T>G (p.Ile1765Arg)
c.5222T>G (p.Ile1741Arg)
c.5249T>G (p.Ile1750Arg)
c.5252T>G (p.Ile1751Arg)
c.5291T>G (p.Ile1764Arg)
c.5261T>G (p.Ile1754Arg)
n.2083T>G
c.5156T>G (p.Ile1719Arg)
c.5219T>G (p.Ile1740Arg)
c.5159T>G (p.Ile1720Arg)
c.5357T>G (p.Ile1786Arg)
c.5354T>G (p.Ile1785Arg)
2g.71665302T=CA1260150210DYSFc.2729T= (p.Ile910=)
c.1946T= (p.Ile649=)
c.2054T= (p.Ile685=)
c.5198T= (p.Ile1733=)
c.5315T= (p.Ile1772=)
c.5201T= (p.Ile1734=)
c.5264T= (p.Ile1755=)
c.5312T= (p.Ile1771=)
c.5294T= (p.Ile1765=)
c.5222T= (p.Ile1741=)
c.5249T= (p.Ile1750=)
c.5252T= (p.Ile1751=)
c.5291T= (p.Ile1764=)
c.5261T= (p.Ile1754=)
n.2083T=
c.5156T= (p.Ile1719=)
c.5219T= (p.Ile1740=)
c.5159T= (p.Ile1720=)
c.5357T= (p.Ile1786=)
c.5354T= (p.Ile1785=)
2g.71665303A>CCA426704089DYSFc.2730A>C (p.Ile910=)
c.1947A>C (p.Ile649=)
c.2055A>C (p.Ile685=)
c.5199A>C (p.Ile1733=)
c.5316A>C (p.Ile1772=)
c.5202A>C (p.Ile1734=)
c.5265A>C (p.Ile1755=)
c.5313A>C (p.Ile1771=)
c.5295A>C (p.Ile1765=)
c.5223A>C (p.Ile1741=)
c.5250A>C (p.Ile1750=)
c.5253A>C (p.Ile1751=)
c.5292A>C (p.Ile1764=)
c.5262A>C (p.Ile1754=)
n.2084A>C
c.5157A>C (p.Ile1719=)
c.5220A>C (p.Ile1740=)
c.5160A>C (p.Ile1720=)
c.5358A>C (p.Ile1786=)
c.5355A>C (p.Ile1785=)
2g.71665303A>GCA347221193DYSFc.2730A>G (p.Ile910Met)
c.1947A>G (p.Ile649Met)
c.2055A>G (p.Ile685Met)
c.5199A>G (p.Ile1733Met)
c.5316A>G (p.Ile1772Met)
c.5202A>G (p.Ile1734Met)
c.5265A>G (p.Ile1755Met)
c.5313A>G (p.Ile1771Met)
c.5295A>G (p.Ile1765Met)
c.5223A>G (p.Ile1741Met)
c.5250A>G (p.Ile1750Met)
c.5253A>G (p.Ile1751Met)
c.5292A>G (p.Ile1764Met)
c.5262A>G (p.Ile1754Met)
n.2084A>G
c.5157A>G (p.Ile1719Met)
c.5220A>G (p.Ile1740Met)
c.5160A>G (p.Ile1720Met)
c.5358A>G (p.Ile1786Met)
c.5355A>G (p.Ile1785Met)
2g.71665303A>TCA426704090DYSFc.2730A>T (p.Ile910=)
c.1947A>T (p.Ile649=)
c.2055A>T (p.Ile685=)
c.5199A>T (p.Ile1733=)
c.5316A>T (p.Ile1772=)
c.5202A>T (p.Ile1734=)
c.5265A>T (p.Ile1755=)
c.5313A>T (p.Ile1771=)
c.5295A>T (p.Ile1765=)
c.5223A>T (p.Ile1741=)
c.5250A>T (p.Ile1750=)
c.5253A>T (p.Ile1751=)
c.5292A>T (p.Ile1764=)
c.5262A>T (p.Ile1754=)
n.2084A>T
c.5157A>T (p.Ile1719=)
c.5220A>T (p.Ile1740=)
c.5160A>T (p.Ile1720=)
c.5358A>T (p.Ile1786=)
c.5355A>T (p.Ile1785=)
2g.71665304G>ACA347221194DYSFc.2731G>A (p.Glu911Lys)
c.1948G>A (p.Glu650Lys)
c.2056G>A (p.Glu686Lys)
c.5200G>A (p.Glu1734Lys)
c.5317G>A (p.Glu1773Lys)
c.5203G>A (p.Glu1735Lys)
c.5266G>A (p.Glu1756Lys)
c.5314G>A (p.Glu1772Lys)
c.5296G>A (p.Glu1766Lys)
c.5224G>A (p.Glu1742Lys)
c.5251G>A (p.Glu1751Lys)
c.5254G>A (p.Glu1752Lys)
c.5293G>A (p.Glu1765Lys)
c.5263G>A (p.Glu1755Lys)
n.2085G>A
c.5158G>A (p.Glu1720Lys)
c.5221G>A (p.Glu1741Lys)
c.5161G>A (p.Glu1721Lys)
c.5359G>A (p.Glu1787Lys)
c.5356G>A (p.Glu1786Lys)
2g.71665304G>CCA347221195DYSFc.2731G>C (p.Glu911Gln)
c.1948G>C (p.Glu650Gln)
c.2056G>C (p.Glu686Gln)
c.5200G>C (p.Glu1734Gln)
c.5317G>C (p.Glu1773Gln)
c.5203G>C (p.Glu1735Gln)
c.5266G>C (p.Glu1756Gln)
c.5314G>C (p.Glu1772Gln)
c.5296G>C (p.Glu1766Gln)
c.5224G>C (p.Glu1742Gln)
c.5251G>C (p.Glu1751Gln)
c.5254G>C (p.Glu1752Gln)
c.5293G>C (p.Glu1765Gln)
c.5263G>C (p.Glu1755Gln)
n.2085G>C
c.5158G>C (p.Glu1720Gln)
c.5221G>C (p.Glu1741Gln)
c.5161G>C (p.Glu1721Gln)
c.5359G>C (p.Glu1787Gln)
c.5356G>C (p.Glu1786Gln)
2g.71665304G=CA1260150211DYSFc.2731G= (p.Glu911=)
c.1948G= (p.Glu650=)
c.2056G= (p.Glu686=)
c.5200G= (p.Glu1734=)
c.5317G= (p.Glu1773=)
c.5203G= (p.Glu1735=)
c.5266G= (p.Glu1756=)
c.5314G= (p.Glu1772=)
c.5296G= (p.Glu1766=)
c.5224G= (p.Glu1742=)
c.5251G= (p.Glu1751=)
c.5254G= (p.Glu1752=)
c.5293G= (p.Glu1765=)
c.5263G= (p.Glu1755=)
n.2085G=
c.5158G= (p.Glu1720=)
c.5221G= (p.Glu1741=)
c.5161G= (p.Glu1721=)
c.5359G= (p.Glu1787=)
c.5356G= (p.Glu1786=)
2g.71665304G>TCA347221196DYSFc.2731G>T (p.Glu911Ter)
c.1948G>T (p.Glu650Ter)
c.2056G>T (p.Glu686Ter)
c.5200G>T (p.Glu1734Ter)
c.5317G>T (p.Glu1773Ter)
c.5203G>T (p.Glu1735Ter)
c.5266G>T (p.Glu1756Ter)
c.5314G>T (p.Glu1772Ter)
c.5296G>T (p.Glu1766Ter)
c.5224G>T (p.Glu1742Ter)
c.5251G>T (p.Glu1751Ter)
c.5254G>T (p.Glu1752Ter)
c.5293G>T (p.Glu1765Ter)
c.5263G>T (p.Glu1755Ter)
n.2085G>T
c.5158G>T (p.Glu1720Ter)
c.5221G>T (p.Glu1741Ter)
c.5161G>T (p.Glu1721Ter)
c.5359G>T (p.Glu1787Ter)
c.5356G>T (p.Glu1786Ter)
 ClinVar dbSNP
2g.71665305G>ACA1707318DYSFc.2731+1G>A (n.2731+1G>A)
c.1948+1G>A (n.1948+1G>A)
c.2056+1G>A (n.2056+1G>A)
c.5200+1G>A (n.5200+1G>A)
c.5317+1G>A (n.5317+1G>A)
c.5203+1G>A (n.5203+1G>A)
c.5266+1G>A (n.5266+1G>A)
c.5314+1G>A (n.5314+1G>A)
c.5296+1G>A (n.5296+1G>A)
c.5224+1G>A (n.5224+1G>A)
c.5251+1G>A (n.5251+1G>A)
c.5254+1G>A (n.5254+1G>A)
c.5293+1G>A (n.5293+1G>A)
c.5263+1G>A (n.5263+1G>A)
n.2085+1G>A
c.5158+1G>A (n.5158+1G>A)
c.5221+1G>A (n.5221+1G>A)
c.5161+1G>A (n.5161+1G>A)
c.5359+1G>A (n.5359+1G>A)
c.5356+1G>A (n.5356+1G>A)
 ClinVar dbSNP ExAC gnomAD v2
2g.71665305G>CCA347221197DYSFc.2731+1G>C (n.2731+1G>C)
c.1948+1G>C (n.1948+1G>C)
c.2056+1G>C (n.2056+1G>C)
c.5200+1G>C (n.5200+1G>C)
c.5317+1G>C (n.5317+1G>C)
c.5203+1G>C (n.5203+1G>C)
c.5266+1G>C (n.5266+1G>C)
c.5314+1G>C (n.5314+1G>C)
c.5296+1G>C (n.5296+1G>C)
c.5224+1G>C (n.5224+1G>C)
c.5251+1G>C (n.5251+1G>C)
c.5254+1G>C (n.5254+1G>C)
c.5293+1G>C (n.5293+1G>C)
c.5263+1G>C (n.5263+1G>C)
n.2085+1G>C
c.5158+1G>C (n.5158+1G>C)
c.5221+1G>C (n.5221+1G>C)
c.5161+1G>C (n.5161+1G>C)
c.5359+1G>C (n.5359+1G>C)
c.5356+1G>C (n.5356+1G>C)
2g.71665305G=CA1260150212DYSFc.2731+1G= (n.2731+1G=)
c.1948+1G= (n.1948+1G=)
c.2056+1G= (n.2056+1G=)
c.5200+1G= (n.5200+1G=)
c.5317+1G= (n.5317+1G=)
c.5203+1G= (n.5203+1G=)
c.5266+1G= (n.5266+1G=)
c.5314+1G= (n.5314+1G=)
c.5296+1G= (n.5296+1G=)
c.5224+1G= (n.5224+1G=)
c.5251+1G= (n.5251+1G=)
c.5254+1G= (n.5254+1G=)
c.5293+1G= (n.5293+1G=)
c.5263+1G= (n.5263+1G=)
n.2085+1G=
c.5158+1G= (n.5158+1G=)
c.5221+1G= (n.5221+1G=)
c.5161+1G= (n.5161+1G=)
c.5359+1G= (n.5359+1G=)
c.5356+1G= (n.5356+1G=)
2g.71665305G>TCA347221198DYSFc.2731+1G>T (n.2731+1G>T)
c.1948+1G>T (n.1948+1G>T)
c.2056+1G>T (n.2056+1G>T)
c.5200+1G>T (n.5200+1G>T)
c.5317+1G>T (n.5317+1G>T)
c.5203+1G>T (n.5203+1G>T)
c.5266+1G>T (n.5266+1G>T)
c.5314+1G>T (n.5314+1G>T)
c.5296+1G>T (n.5296+1G>T)
c.5224+1G>T (n.5224+1G>T)
c.5251+1G>T (n.5251+1G>T)
c.5254+1G>T (n.5254+1G>T)
c.5293+1G>T (n.5293+1G>T)
c.5263+1G>T (n.5263+1G>T)
n.2085+1G>T
c.5158+1G>T (n.5158+1G>T)
c.5221+1G>T (n.5221+1G>T)
c.5161+1G>T (n.5161+1G>T)
c.5359+1G>T (n.5359+1G>T)
c.5356+1G>T (n.5356+1G>T)
2g.71665306T>ACA347221201DYSFc.2731+2T>A (n.2731+2T>A)
c.1948+2T>A (n.1948+2T>A)
c.2056+2T>A (n.2056+2T>A)
c.5200+2T>A (n.5200+2T>A)
c.5317+2T>A (n.5317+2T>A)
c.5203+2T>A (n.5203+2T>A)
c.5266+2T>A (n.5266+2T>A)
c.5314+2T>A (n.5314+2T>A)
c.5296+2T>A (n.5296+2T>A)
c.5224+2T>A (n.5224+2T>A)
c.5251+2T>A (n.5251+2T>A)
c.5254+2T>A (n.5254+2T>A)
c.5293+2T>A (n.5293+2T>A)
c.5263+2T>A (n.5263+2T>A)
n.2085+2T>A
c.5158+2T>A (n.5158+2T>A)
c.5221+2T>A (n.5221+2T>A)
c.5161+2T>A (n.5161+2T>A)
c.5359+2T>A (n.5359+2T>A)
c.5356+2T>A (n.5356+2T>A)
2g.71665306T>CCA347221199DYSFc.2731+2T>C (n.2731+2T>C)
c.1948+2T>C (n.1948+2T>C)
c.2056+2T>C (n.2056+2T>C)
c.5200+2T>C (n.5200+2T>C)
c.5317+2T>C (n.5317+2T>C)
c.5203+2T>C (n.5203+2T>C)
c.5266+2T>C (n.5266+2T>C)
c.5314+2T>C (n.5314+2T>C)
c.5296+2T>C (n.5296+2T>C)
c.5224+2T>C (n.5224+2T>C)
c.5251+2T>C (n.5251+2T>C)
c.5254+2T>C (n.5254+2T>C)
c.5293+2T>C (n.5293+2T>C)
c.5263+2T>C (n.5263+2T>C)
n.2085+2T>C
c.5158+2T>C (n.5158+2T>C)
c.5221+2T>C (n.5221+2T>C)
c.5161+2T>C (n.5161+2T>C)
c.5359+2T>C (n.5359+2T>C)
c.5356+2T>C (n.5356+2T>C)
2g.71665306T>GCA347221200DYSFc.2731+2T>G (n.2731+2T>G)
c.1948+2T>G (n.1948+2T>G)
c.2056+2T>G (n.2056+2T>G)
c.5200+2T>G (n.5200+2T>G)
c.5317+2T>G (n.5317+2T>G)
c.5203+2T>G (n.5203+2T>G)
c.5266+2T>G (n.5266+2T>G)
c.5314+2T>G (n.5314+2T>G)
c.5296+2T>G (n.5296+2T>G)
c.5224+2T>G (n.5224+2T>G)
c.5251+2T>G (n.5251+2T>G)
c.5254+2T>G (n.5254+2T>G)
c.5293+2T>G (n.5293+2T>G)
c.5263+2T>G (n.5263+2T>G)
n.2085+2T>G
c.5158+2T>G (n.5158+2T>G)
c.5221+2T>G (n.5221+2T>G)
c.5161+2T>G (n.5161+2T>G)
c.5359+2T>G (n.5359+2T>G)
c.5356+2T>G (n.5356+2T>G)
2g.71665309G>ACA533263791DYSFc.2731+5G>A (n.2731+5G>A)
c.1948+5G>A (n.1948+5G>A)
c.2056+5G>A (n.2056+5G>A)
c.5200+5G>A (n.5200+5G>A)
c.5317+5G>A (n.5317+5G>A)
c.5203+5G>A (n.5203+5G>A)
c.5266+5G>A (n.5266+5G>A)
c.5314+5G>A (n.5314+5G>A)
c.5296+5G>A (n.5296+5G>A)
c.5224+5G>A (n.5224+5G>A)
c.5251+5G>A (n.5251+5G>A)
c.5254+5G>A (n.5254+5G>A)
c.5293+5G>A (n.5293+5G>A)
c.5263+5G>A (n.5263+5G>A)
n.2085+5G>A
c.5158+5G>A (n.5158+5G>A)
c.5221+5G>A (n.5221+5G>A)
c.5161+5G>A (n.5161+5G>A)
c.5359+5G>A (n.5359+5G>A)
c.5356+5G>A (n.5356+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71665309G>CCA1260150214DYSFc.2731+5G>C (n.2731+5G>C)
c.1948+5G>C (n.1948+5G>C)
c.2056+5G>C (n.2056+5G>C)
c.5200+5G>C (n.5200+5G>C)
c.5317+5G>C (n.5317+5G>C)
c.5203+5G>C (n.5203+5G>C)
c.5266+5G>C (n.5266+5G>C)
c.5314+5G>C (n.5314+5G>C)
c.5296+5G>C (n.5296+5G>C)
c.5224+5G>C (n.5224+5G>C)
c.5251+5G>C (n.5251+5G>C)
c.5254+5G>C (n.5254+5G>C)
c.5293+5G>C (n.5293+5G>C)
c.5263+5G>C (n.5263+5G>C)
n.2085+5G>C
c.5158+5G>C (n.5158+5G>C)
c.5221+5G>C (n.5221+5G>C)
c.5161+5G>C (n.5161+5G>C)
c.5359+5G>C (n.5359+5G>C)
c.5356+5G>C (n.5356+5G>C)
 dbSNP
2g.71665309G=CA1260150213DYSFc.2731+5G= (n.2731+5G=)
c.1948+5G= (n.1948+5G=)
c.2056+5G= (n.2056+5G=)
c.5200+5G= (n.5200+5G=)
c.5317+5G= (n.5317+5G=)
c.5203+5G= (n.5203+5G=)
c.5266+5G= (n.5266+5G=)
c.5314+5G= (n.5314+5G=)
c.5296+5G= (n.5296+5G=)
c.5224+5G= (n.5224+5G=)
c.5251+5G= (n.5251+5G=)
c.5254+5G= (n.5254+5G=)
c.5293+5G= (n.5293+5G=)
c.5263+5G= (n.5263+5G=)
n.2085+5G=
c.5158+5G= (n.5158+5G=)
c.5221+5G= (n.5221+5G=)
c.5161+5G= (n.5161+5G=)
c.5359+5G= (n.5359+5G=)
c.5356+5G= (n.5356+5G=)
2g.71665310C>ACA2750418881DYSFc.2731+6C>A (n.2731+6C>A)
c.1948+6C>A (n.1948+6C>A)
c.2056+6C>A (n.2056+6C>A)
c.5200+6C>A (n.5200+6C>A)
c.5317+6C>A (n.5317+6C>A)
c.5203+6C>A (n.5203+6C>A)
c.5266+6C>A (n.5266+6C>A)
c.5314+6C>A (n.5314+6C>A)
c.5296+6C>A (n.5296+6C>A)
c.5224+6C>A (n.5224+6C>A)
c.5251+6C>A (n.5251+6C>A)
c.5254+6C>A (n.5254+6C>A)
c.5293+6C>A (n.5293+6C>A)
c.5263+6C>A (n.5263+6C>A)
n.2085+6C>A
c.5158+6C>A (n.5158+6C>A)
c.5221+6C>A (n.5221+6C>A)
c.5161+6C>A (n.5161+6C>A)
c.5359+6C>A (n.5359+6C>A)
c.5356+6C>A (n.5356+6C>A)
2g.71665310C=CA1260150215DYSFc.2731+6C= (n.2731+6C=)
c.1948+6C= (n.1948+6C=)
c.2056+6C= (n.2056+6C=)
c.5200+6C= (n.5200+6C=)
c.5317+6C= (n.5317+6C=)
c.5203+6C= (n.5203+6C=)
c.5266+6C= (n.5266+6C=)
c.5314+6C= (n.5314+6C=)
c.5296+6C= (n.5296+6C=)
c.5224+6C= (n.5224+6C=)
c.5251+6C= (n.5251+6C=)
c.5254+6C= (n.5254+6C=)
c.5293+6C= (n.5293+6C=)
c.5263+6C= (n.5263+6C=)
n.2085+6C=
c.5158+6C= (n.5158+6C=)
c.5221+6C= (n.5221+6C=)
c.5161+6C= (n.5161+6C=)
c.5359+6C= (n.5359+6C=)
c.5356+6C= (n.5356+6C=)
2g.71665310C>GCA892677439DYSFc.2731+6C>G (n.2731+6C>G)
c.1948+6C>G (n.1948+6C>G)
c.2056+6C>G (n.2056+6C>G)
c.5200+6C>G (n.5200+6C>G)
c.5317+6C>G (n.5317+6C>G)
c.5203+6C>G (n.5203+6C>G)
c.5266+6C>G (n.5266+6C>G)
c.5314+6C>G (n.5314+6C>G)
c.5296+6C>G (n.5296+6C>G)
c.5224+6C>G (n.5224+6C>G)
c.5251+6C>G (n.5251+6C>G)
c.5254+6C>G (n.5254+6C>G)
c.5293+6C>G (n.5293+6C>G)
c.5263+6C>G (n.5263+6C>G)
n.2085+6C>G
c.5158+6C>G (n.5158+6C>G)
c.5221+6C>G (n.5221+6C>G)
c.5161+6C>G (n.5161+6C>G)
c.5359+6C>G (n.5359+6C>G)
c.5356+6C>G (n.5356+6C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71665313C=CA1260150216DYSFc.2731+9C= (n.2731+9C=)
c.1948+9C= (n.1948+9C=)
c.2056+9C= (n.2056+9C=)
c.5200+9C= (n.5200+9C=)
c.5317+9C= (n.5317+9C=)
c.5203+9C= (n.5203+9C=)
c.5266+9C= (n.5266+9C=)
c.5314+9C= (n.5314+9C=)
c.5296+9C= (n.5296+9C=)
c.5224+9C= (n.5224+9C=)
c.5251+9C= (n.5251+9C=)
c.5254+9C= (n.5254+9C=)
c.5293+9C= (n.5293+9C=)
c.5263+9C= (n.5263+9C=)
n.2085+9C=
c.5158+9C= (n.5158+9C=)
c.5221+9C= (n.5221+9C=)
c.5161+9C= (n.5161+9C=)
c.5359+9C= (n.5359+9C=)
c.5356+9C= (n.5356+9C=)
2g.71665313C>TCA1260150217DYSFc.2731+9C>T (n.2731+9C>T)
c.1948+9C>T (n.1948+9C>T)
c.2056+9C>T (n.2056+9C>T)
c.5200+9C>T (n.5200+9C>T)
c.5317+9C>T (n.5317+9C>T)
c.5203+9C>T (n.5203+9C>T)
c.5266+9C>T (n.5266+9C>T)
c.5314+9C>T (n.5314+9C>T)
c.5296+9C>T (n.5296+9C>T)
c.5224+9C>T (n.5224+9C>T)
c.5251+9C>T (n.5251+9C>T)
c.5254+9C>T (n.5254+9C>T)
c.5293+9C>T (n.5293+9C>T)
c.5263+9C>T (n.5263+9C>T)
n.2085+9C>T
c.5158+9C>T (n.5158+9C>T)
c.5221+9C>T (n.5221+9C>T)
c.5161+9C>T (n.5161+9C>T)
c.5359+9C>T (n.5359+9C>T)
c.5356+9C>T (n.5356+9C>T)
 ClinVar dbSNP
2g.71665314C>TCA2740095633DYSFc.2731+10C>T (n.2731+10C>T)
c.1948+10C>T (n.1948+10C>T)
c.2056+10C>T (n.2056+10C>T)
c.5200+10C>T (n.5200+10C>T)
c.5317+10C>T (n.5317+10C>T)
c.5203+10C>T (n.5203+10C>T)
c.5266+10C>T (n.5266+10C>T)
c.5314+10C>T (n.5314+10C>T)
c.5296+10C>T (n.5296+10C>T)
c.5224+10C>T (n.5224+10C>T)
c.5251+10C>T (n.5251+10C>T)
c.5254+10C>T (n.5254+10C>T)
c.5293+10C>T (n.5293+10C>T)
c.5263+10C>T (n.5263+10C>T)
n.2085+10C>T
c.5158+10C>T (n.5158+10C>T)
c.5221+10C>T (n.5221+10C>T)
c.5161+10C>T (n.5161+10C>T)
c.5359+10C>T (n.5359+10C>T)
c.5356+10C>T (n.5356+10C>T)
 ClinVar
2g.71665315A>GCA2600268899DYSFc.2731+11A>G (n.2731+11A>G)
c.1948+11A>G (n.1948+11A>G)
c.2056+11A>G (n.2056+11A>G)
c.5200+11A>G (n.5200+11A>G)
c.5317+11A>G (n.5317+11A>G)
c.5203+11A>G (n.5203+11A>G)
c.5266+11A>G (n.5266+11A>G)
c.5314+11A>G (n.5314+11A>G)
c.5296+11A>G (n.5296+11A>G)
c.5224+11A>G (n.5224+11A>G)
c.5251+11A>G (n.5251+11A>G)
c.5254+11A>G (n.5254+11A>G)
c.5293+11A>G (n.5293+11A>G)
c.5263+11A>G (n.5263+11A>G)
n.2085+11A>G
c.5158+11A>G (n.5158+11A>G)
c.5221+11A>G (n.5221+11A>G)
c.5161+11A>G (n.5161+11A>G)
c.5359+11A>G (n.5359+11A>G)
c.5356+11A>G (n.5356+11A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.71665316C>TCA2659554955DYSFc.2731+12C>T (n.2731+12C>T)
c.1948+12C>T (n.1948+12C>T)
c.2056+12C>T (n.2056+12C>T)
c.5200+12C>T (n.5200+12C>T)
c.5317+12C>T (n.5317+12C>T)
c.5203+12C>T (n.5203+12C>T)
c.5266+12C>T (n.5266+12C>T)
c.5314+12C>T (n.5314+12C>T)
c.5296+12C>T (n.5296+12C>T)
c.5224+12C>T (n.5224+12C>T)
c.5251+12C>T (n.5251+12C>T)
c.5254+12C>T (n.5254+12C>T)
c.5293+12C>T (n.5293+12C>T)
c.5263+12C>T (n.5263+12C>T)
n.2085+12C>T
c.5158+12C>T (n.5158+12C>T)
c.5221+12C>T (n.5221+12C>T)
c.5161+12C>T (n.5161+12C>T)
c.5359+12C>T (n.5359+12C>T)
c.5356+12C>T (n.5356+12C>T)
 gnomAD v4
2g.71665317A=CA1260150218DYSFc.2731+13A= (n.2731+13A=)
c.1948+13A= (n.1948+13A=)
c.2056+13A= (n.2056+13A=)
c.5200+13A= (n.5200+13A=)
c.5317+13A= (n.5317+13A=)
c.5203+13A= (n.5203+13A=)
c.5266+13A= (n.5266+13A=)
c.5314+13A= (n.5314+13A=)
c.5296+13A= (n.5296+13A=)
c.5224+13A= (n.5224+13A=)
c.5251+13A= (n.5251+13A=)
c.5254+13A= (n.5254+13A=)
c.5293+13A= (n.5293+13A=)
c.5263+13A= (n.5263+13A=)
n.2085+13A=
c.5158+13A= (n.5158+13A=)
c.5221+13A= (n.5221+13A=)
c.5161+13A= (n.5161+13A=)
c.5359+13A= (n.5359+13A=)
c.5356+13A= (n.5356+13A=)
2g.71665317A>CCA2659554956DYSFc.2731+13A>C (n.2731+13A>C)
c.1948+13A>C (n.1948+13A>C)
c.2056+13A>C (n.2056+13A>C)
c.5200+13A>C (n.5200+13A>C)
c.5317+13A>C (n.5317+13A>C)
c.5203+13A>C (n.5203+13A>C)
c.5266+13A>C (n.5266+13A>C)
c.5314+13A>C (n.5314+13A>C)
c.5296+13A>C (n.5296+13A>C)
c.5224+13A>C (n.5224+13A>C)
c.5251+13A>C (n.5251+13A>C)
c.5254+13A>C (n.5254+13A>C)
c.5293+13A>C (n.5293+13A>C)
c.5263+13A>C (n.5263+13A>C)
n.2085+13A>C
c.5158+13A>C (n.5158+13A>C)
c.5221+13A>C (n.5221+13A>C)
c.5161+13A>C (n.5161+13A>C)
c.5359+13A>C (n.5359+13A>C)
c.5356+13A>C (n.5356+13A>C)
 gnomAD v4
2g.71665317A>GCA1707319DYSFc.2731+13A>G (n.2731+13A>G)
c.1948+13A>G (n.1948+13A>G)
c.2056+13A>G (n.2056+13A>G)
c.5200+13A>G (n.5200+13A>G)
c.5317+13A>G (n.5317+13A>G)
c.5203+13A>G (n.5203+13A>G)
c.5266+13A>G (n.5266+13A>G)
c.5314+13A>G (n.5314+13A>G)
c.5296+13A>G (n.5296+13A>G)
c.5224+13A>G (n.5224+13A>G)
c.5251+13A>G (n.5251+13A>G)
c.5254+13A>G (n.5254+13A>G)
c.5293+13A>G (n.5293+13A>G)
c.5263+13A>G (n.5263+13A>G)
n.2085+13A>G
c.5158+13A>G (n.5158+13A>G)
c.5221+13A>G (n.5221+13A>G)
c.5161+13A>G (n.5161+13A>G)
c.5359+13A>G (n.5359+13A>G)
c.5356+13A>G (n.5356+13A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665320_71665321delinsACCA1260150219DYSFc.2731+16_2731+17delinsAC (n.2731+16_2731+17delinsAC)
c.1948+16_1948+17delinsAC (n.1948+16_1948+17delinsAC)
c.2056+16_2056+17delinsAC (n.2056+16_2056+17delinsAC)
c.5200+16_5200+17delinsAC (n.5200+16_5200+17delinsAC)
c.5317+16_5317+17delinsAC (n.5317+16_5317+17delinsAC)
c.5203+16_5203+17delinsAC (n.5203+16_5203+17delinsAC)
c.5266+16_5266+17delinsAC (n.5266+16_5266+17delinsAC)
c.5314+16_5314+17delinsAC (n.5314+16_5314+17delinsAC)
c.5296+16_5296+17delinsAC (n.5296+16_5296+17delinsAC)
c.5224+16_5224+17delinsAC (n.5224+16_5224+17delinsAC)
c.5251+16_5251+17delinsAC (n.5251+16_5251+17delinsAC)
c.5254+16_5254+17delinsAC (n.5254+16_5254+17delinsAC)
c.5293+16_5293+17delinsAC (n.5293+16_5293+17delinsAC)
c.5263+16_5263+17delinsAC (n.5263+16_5263+17delinsAC)
n.2085+16_2085+17delinsAC
c.5158+16_5158+17delinsAC (n.5158+16_5158+17delinsAC)
c.5221+16_5221+17delinsAC (n.5221+16_5221+17delinsAC)
c.5161+16_5161+17delinsAC (n.5161+16_5161+17delinsAC)
c.5359+16_5359+17delinsAC (n.5359+16_5359+17delinsAC)
c.5356+16_5356+17delinsAC (n.5356+16_5356+17delinsAC)
2g.71665321C>ACA2659554957DYSFc.2731+17C>A (n.2731+17C>A)
c.1948+17C>A (n.1948+17C>A)
c.2056+17C>A (n.2056+17C>A)
c.5200+17C>A (n.5200+17C>A)
c.5317+17C>A (n.5317+17C>A)
c.5203+17C>A (n.5203+17C>A)
c.5266+17C>A (n.5266+17C>A)
c.5314+17C>A (n.5314+17C>A)
c.5296+17C>A (n.5296+17C>A)
c.5224+17C>A (n.5224+17C>A)
c.5251+17C>A (n.5251+17C>A)
c.5254+17C>A (n.5254+17C>A)
c.5293+17C>A (n.5293+17C>A)
c.5263+17C>A (n.5263+17C>A)
n.2085+17C>A
c.5158+17C>A (n.5158+17C>A)
c.5221+17C>A (n.5221+17C>A)
c.5161+17C>A (n.5161+17C>A)
c.5359+17C>A (n.5359+17C>A)
c.5356+17C>A (n.5356+17C>A)
 gnomAD v4
2g.71665321C=CA1260150220DYSFc.2731+17C= (n.2731+17C=)
c.1948+17C= (n.1948+17C=)
c.2056+17C= (n.2056+17C=)
c.5200+17C= (n.5200+17C=)
c.5317+17C= (n.5317+17C=)
c.5203+17C= (n.5203+17C=)
c.5266+17C= (n.5266+17C=)
c.5314+17C= (n.5314+17C=)
c.5296+17C= (n.5296+17C=)
c.5224+17C= (n.5224+17C=)
c.5251+17C= (n.5251+17C=)
c.5254+17C= (n.5254+17C=)
c.5293+17C= (n.5293+17C=)
c.5263+17C= (n.5263+17C=)
n.2085+17C=
c.5158+17C= (n.5158+17C=)
c.5221+17C= (n.5221+17C=)
c.5161+17C= (n.5161+17C=)
c.5359+17C= (n.5359+17C=)
c.5356+17C= (n.5356+17C=)
2g.71665321C>GCA2577000730DYSFc.2731+17C>G (n.2731+17C>G)
c.1948+17C>G (n.1948+17C>G)
c.2056+17C>G (n.2056+17C>G)
c.5200+17C>G (n.5200+17C>G)
c.5317+17C>G (n.5317+17C>G)
c.5203+17C>G (n.5203+17C>G)
c.5266+17C>G (n.5266+17C>G)
c.5314+17C>G (n.5314+17C>G)
c.5296+17C>G (n.5296+17C>G)
c.5224+17C>G (n.5224+17C>G)
c.5251+17C>G (n.5251+17C>G)
c.5254+17C>G (n.5254+17C>G)
c.5293+17C>G (n.5293+17C>G)
c.5263+17C>G (n.5263+17C>G)
n.2085+17C>G
c.5158+17C>G (n.5158+17C>G)
c.5221+17C>G (n.5221+17C>G)
c.5161+17C>G (n.5161+17C>G)
c.5359+17C>G (n.5359+17C>G)
c.5356+17C>G (n.5356+17C>G)
2g.71665321C>TCA1260150221DYSFc.2731+17C>T (n.2731+17C>T)
c.1948+17C>T (n.1948+17C>T)
c.2056+17C>T (n.2056+17C>T)
c.5200+17C>T (n.5200+17C>T)
c.5317+17C>T (n.5317+17C>T)
c.5203+17C>T (n.5203+17C>T)
c.5266+17C>T (n.5266+17C>T)
c.5314+17C>T (n.5314+17C>T)
c.5296+17C>T (n.5296+17C>T)
c.5224+17C>T (n.5224+17C>T)
c.5251+17C>T (n.5251+17C>T)
c.5254+17C>T (n.5254+17C>T)
c.5293+17C>T (n.5293+17C>T)
c.5263+17C>T (n.5263+17C>T)
n.2085+17C>T
c.5158+17C>T (n.5158+17C>T)
c.5221+17C>T (n.5221+17C>T)
c.5161+17C>T (n.5161+17C>T)
c.5359+17C>T (n.5359+17C>T)
c.5356+17C>T (n.5356+17C>T)
 dbSNP
2g.71665324delCA1707320DYSFc.2731+20del (n.2731+20del)
c.1948+20del (n.1948+20del)
c.2056+20del (n.2056+20del)
c.5200+20del (n.5200+20del)
c.5317+20del (n.5317+20del)
c.5203+20del (n.5203+20del)
c.5266+20del (n.5266+20del)
c.5314+20del (n.5314+20del)
c.5296+20del (n.5296+20del)
c.5224+20del (n.5224+20del)
c.5251+20del (n.5251+20del)
c.5254+20del (n.5254+20del)
c.5293+20del (n.5293+20del)
c.5263+20del (n.5263+20del)
n.2085+20del
c.5158+20del (n.5158+20del)
c.5221+20del (n.5221+20del)
c.5161+20del (n.5161+20del)
c.5359+20del (n.5359+20del)
c.5356+20del (n.5356+20del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665322C=CA1260150222DYSFc.2731+18C= (n.2731+18C=)
c.1948+18C= (n.1948+18C=)
c.2056+18C= (n.2056+18C=)
c.5200+18C= (n.5200+18C=)
c.5317+18C= (n.5317+18C=)
c.5203+18C= (n.5203+18C=)
c.5266+18C= (n.5266+18C=)
c.5314+18C= (n.5314+18C=)
c.5296+18C= (n.5296+18C=)
c.5224+18C= (n.5224+18C=)
c.5251+18C= (n.5251+18C=)
c.5254+18C= (n.5254+18C=)
c.5293+18C= (n.5293+18C=)
c.5263+18C= (n.5263+18C=)
n.2085+18C=
c.5158+18C= (n.5158+18C=)
c.5221+18C= (n.5221+18C=)
c.5161+18C= (n.5161+18C=)
c.5359+18C= (n.5359+18C=)
c.5356+18C= (n.5356+18C=)
2g.71665322C>GCA1707321DYSFc.2731+18C>G (n.2731+18C>G)
c.1948+18C>G (n.1948+18C>G)
c.2056+18C>G (n.2056+18C>G)
c.5200+18C>G (n.5200+18C>G)
c.5317+18C>G (n.5317+18C>G)
c.5203+18C>G (n.5203+18C>G)
c.5266+18C>G (n.5266+18C>G)
c.5314+18C>G (n.5314+18C>G)
c.5296+18C>G (n.5296+18C>G)
c.5224+18C>G (n.5224+18C>G)
c.5251+18C>G (n.5251+18C>G)
c.5254+18C>G (n.5254+18C>G)
c.5293+18C>G (n.5293+18C>G)
c.5263+18C>G (n.5263+18C>G)
n.2085+18C>G
c.5158+18C>G (n.5158+18C>G)
c.5221+18C>G (n.5221+18C>G)
c.5161+18C>G (n.5161+18C>G)
c.5359+18C>G (n.5359+18C>G)
c.5356+18C>G (n.5356+18C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71665322C>TCA892677444DYSFc.2731+18C>T (n.2731+18C>T)
c.1948+18C>T (n.1948+18C>T)
c.2056+18C>T (n.2056+18C>T)
c.5200+18C>T (n.5200+18C>T)
c.5317+18C>T (n.5317+18C>T)
c.5203+18C>T (n.5203+18C>T)
c.5266+18C>T (n.5266+18C>T)
c.5314+18C>T (n.5314+18C>T)
c.5296+18C>T (n.5296+18C>T)
c.5224+18C>T (n.5224+18C>T)
c.5251+18C>T (n.5251+18C>T)
c.5254+18C>T (n.5254+18C>T)
c.5293+18C>T (n.5293+18C>T)
c.5263+18C>T (n.5263+18C>T)
n.2085+18C>T
c.5158+18C>T (n.5158+18C>T)
c.5221+18C>T (n.5221+18C>T)
c.5161+18C>T (n.5161+18C>T)
c.5359+18C>T (n.5359+18C>T)
c.5356+18C>T (n.5356+18C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.71665323C>GCA646776097DYSFc.2731+19C>G (n.2731+19C>G)
c.1948+19C>G (n.1948+19C>G)
c.2056+19C>G (n.2056+19C>G)
c.5200+19C>G (n.5200+19C>G)
c.5317+19C>G (n.5317+19C>G)
c.5203+19C>G (n.5203+19C>G)
c.5266+19C>G (n.5266+19C>G)
c.5314+19C>G (n.5314+19C>G)
c.5296+19C>G (n.5296+19C>G)
c.5224+19C>G (n.5224+19C>G)
c.5251+19C>G (n.5251+19C>G)
c.5254+19C>G (n.5254+19C>G)
c.5293+19C>G (n.5293+19C>G)
c.5263+19C>G (n.5263+19C>G)
n.2085+19C>G
c.5158+19C>G (n.5158+19C>G)
c.5221+19C>G (n.5221+19C>G)
c.5161+19C>G (n.5161+19C>G)
c.5359+19C>G (n.5359+19C>G)
c.5356+19C>G (n.5356+19C>G)
 COSMIC COSMIC
2g.71665324C=CA1260150223DYSFc.2731+20C= (n.2731+20C=)
c.1948+20C= (n.1948+20C=)
c.2056+20C= (n.2056+20C=)
c.5200+20C= (n.5200+20C=)
c.5317+20C= (n.5317+20C=)
c.5203+20C= (n.5203+20C=)
c.5266+20C= (n.5266+20C=)
c.5314+20C= (n.5314+20C=)
c.5296+20C= (n.5296+20C=)
c.5224+20C= (n.5224+20C=)
c.5251+20C= (n.5251+20C=)
c.5254+20C= (n.5254+20C=)
c.5293+20C= (n.5293+20C=)
c.5263+20C= (n.5263+20C=)
n.2085+20C=
c.5158+20C= (n.5158+20C=)
c.5221+20C= (n.5221+20C=)
c.5161+20C= (n.5161+20C=)
c.5359+20C= (n.5359+20C=)
c.5356+20C= (n.5356+20C=)
2g.71665324C>TCA1032095277DYSFc.2731+20C>T (n.2731+20C>T)
c.1948+20C>T (n.1948+20C>T)
c.2056+20C>T (n.2056+20C>T)
c.5200+20C>T (n.5200+20C>T)
c.5317+20C>T (n.5317+20C>T)
c.5203+20C>T (n.5203+20C>T)
c.5266+20C>T (n.5266+20C>T)
c.5314+20C>T (n.5314+20C>T)
c.5296+20C>T (n.5296+20C>T)
c.5224+20C>T (n.5224+20C>T)
c.5251+20C>T (n.5251+20C>T)
c.5254+20C>T (n.5254+20C>T)
c.5293+20C>T (n.5293+20C>T)
c.5263+20C>T (n.5263+20C>T)
n.2085+20C>T
c.5158+20C>T (n.5158+20C>T)
c.5221+20C>T (n.5221+20C>T)
c.5161+20C>T (n.5161+20C>T)
c.5359+20C>T (n.5359+20C>T)
c.5356+20C>T (n.5356+20C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71665326A=CA1260150224DYSFc.2731+22A= (n.2731+22A=)
c.1948+22A= (n.1948+22A=)
c.2056+22A= (n.2056+22A=)
c.5200+22A= (n.5200+22A=)
c.5317+22A= (n.5317+22A=)
c.5203+22A= (n.5203+22A=)
c.5266+22A= (n.5266+22A=)
c.5314+22A= (n.5314+22A=)
c.5296+22A= (n.5296+22A=)
c.5224+22A= (n.5224+22A=)
c.5251+22A= (n.5251+22A=)
c.5254+22A= (n.5254+22A=)
c.5293+22A= (n.5293+22A=)
c.5263+22A= (n.5263+22A=)
n.2085+22A=
c.5158+22A= (n.5158+22A=)
c.5221+22A= (n.5221+22A=)
c.5161+22A= (n.5161+22A=)
c.5359+22A= (n.5359+22A=)
c.5356+22A= (n.5356+22A=)
2g.71665326A>GCA2699398240DYSFc.2731+22A>G (n.2731+22A>G)
c.1948+22A>G (n.1948+22A>G)
c.2056+22A>G (n.2056+22A>G)
c.5200+22A>G (n.5200+22A>G)
c.5317+22A>G (n.5317+22A>G)
c.5203+22A>G (n.5203+22A>G)
c.5266+22A>G (n.5266+22A>G)
c.5314+22A>G (n.5314+22A>G)
c.5296+22A>G (n.5296+22A>G)
c.5224+22A>G (n.5224+22A>G)
c.5251+22A>G (n.5251+22A>G)
c.5254+22A>G (n.5254+22A>G)
c.5293+22A>G (n.5293+22A>G)
c.5263+22A>G (n.5263+22A>G)
n.2085+22A>G
c.5158+22A>G (n.5158+22A>G)
c.5221+22A>G (n.5221+22A>G)
c.5161+22A>G (n.5161+22A>G)
c.5359+22A>G (n.5359+22A>G)
c.5356+22A>G (n.5356+22A>G)
 dbSNP
2g.71665326A>TCA533263796DYSFc.2731+22A>T (n.2731+22A>T)
c.1948+22A>T (n.1948+22A>T)
c.2056+22A>T (n.2056+22A>T)
c.5200+22A>T (n.5200+22A>T)
c.5317+22A>T (n.5317+22A>T)
c.5203+22A>T (n.5203+22A>T)
c.5266+22A>T (n.5266+22A>T)
c.5314+22A>T (n.5314+22A>T)
c.5296+22A>T (n.5296+22A>T)
c.5224+22A>T (n.5224+22A>T)
c.5251+22A>T (n.5251+22A>T)
c.5254+22A>T (n.5254+22A>T)
c.5293+22A>T (n.5293+22A>T)
c.5263+22A>T (n.5263+22A>T)
n.2085+22A>T
c.5158+22A>T (n.5158+22A>T)
c.5221+22A>T (n.5221+22A>T)
c.5161+22A>T (n.5161+22A>T)
c.5359+22A>T (n.5359+22A>T)
c.5356+22A>T (n.5356+22A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.71665327A>GCA2659554958DYSFc.2731+23A>G (n.2731+23A>G)
c.1948+23A>G (n.1948+23A>G)
c.2056+23A>G (n.2056+23A>G)
c.5200+23A>G (n.5200+23A>G)
c.5317+23A>G (n.5317+23A>G)
c.5203+23A>G (n.5203+23A>G)
c.5266+23A>G (n.5266+23A>G)
c.5314+23A>G (n.5314+23A>G)
c.5296+23A>G (n.5296+23A>G)
c.5224+23A>G (n.5224+23A>G)
c.5251+23A>G (n.5251+23A>G)
c.5254+23A>G (n.5254+23A>G)
c.5293+23A>G (n.5293+23A>G)
c.5263+23A>G (n.5263+23A>G)
n.2085+23A>G
c.5158+23A>G (n.5158+23A>G)
c.5221+23A>G (n.5221+23A>G)
c.5161+23A>G (n.5161+23A>G)
c.5359+23A>G (n.5359+23A>G)
c.5356+23A>G (n.5356+23A>G)
 gnomAD v4
2g.71665328C>ACA2699653157DYSFc.2731+24C>A (n.2731+24C>A)
c.1948+24C>A (n.1948+24C>A)
c.2056+24C>A (n.2056+24C>A)
c.5200+24C>A (n.5200+24C>A)
c.5317+24C>A (n.5317+24C>A)
c.5203+24C>A (n.5203+24C>A)
c.5266+24C>A (n.5266+24C>A)
c.5314+24C>A (n.5314+24C>A)
c.5296+24C>A (n.5296+24C>A)
c.5224+24C>A (n.5224+24C>A)
c.5251+24C>A (n.5251+24C>A)
c.5254+24C>A (n.5254+24C>A)
c.5293+24C>A (n.5293+24C>A)
c.5263+24C>A (n.5263+24C>A)
n.2085+24C>A
c.5158+24C>A (n.5158+24C>A)
c.5221+24C>A (n.5221+24C>A)
c.5161+24C>A (n.5161+24C>A)
c.5359+24C>A (n.5359+24C>A)
c.5356+24C>A (n.5356+24C>A)
 dbSNP
2g.71665328C>TCA2659554959DYSFc.2731+24C>T (n.2731+24C>T)
c.1948+24C>T (n.1948+24C>T)
c.2056+24C>T (n.2056+24C>T)
c.5200+24C>T (n.5200+24C>T)
c.5317+24C>T (n.5317+24C>T)
c.5203+24C>T (n.5203+24C>T)
c.5266+24C>T (n.5266+24C>T)
c.5314+24C>T (n.5314+24C>T)
c.5296+24C>T (n.5296+24C>T)
c.5224+24C>T (n.5224+24C>T)
c.5251+24C>T (n.5251+24C>T)
c.5254+24C>T (n.5254+24C>T)
c.5293+24C>T (n.5293+24C>T)
c.5263+24C>T (n.5263+24C>T)
n.2085+24C>T
c.5158+24C>T (n.5158+24C>T)
c.5221+24C>T (n.5221+24C>T)
c.5161+24C>T (n.5161+24C>T)
c.5359+24C>T (n.5359+24C>T)
c.5356+24C>T (n.5356+24C>T)
 gnomAD v4
2g.71665328_71665329insACACCCAACACA2750418882DYSFc.2731+24_2731+25insACACCCAACA (n.2731+24_2731+25insACACCCAACA)
c.1948+24_1948+25insACACCCAACA (n.1948+24_1948+25insACACCCAACA)
c.2056+24_2056+25insACACCCAACA (n.2056+24_2056+25insACACCCAACA)
c.5200+24_5200+25insACACCCAACA (n.5200+24_5200+25insACACCCAACA)
c.5317+24_5317+25insACACCCAACA (n.5317+24_5317+25insACACCCAACA)
c.5203+24_5203+25insACACCCAACA (n.5203+24_5203+25insACACCCAACA)
c.5266+24_5266+25insACACCCAACA (n.5266+24_5266+25insACACCCAACA)
c.5314+24_5314+25insACACCCAACA (n.5314+24_5314+25insACACCCAACA)
c.5296+24_5296+25insACACCCAACA (n.5296+24_5296+25insACACCCAACA)
c.5224+24_5224+25insACACCCAACA (n.5224+24_5224+25insACACCCAACA)
c.5251+24_5251+25insACACCCAACA (n.5251+24_5251+25insACACCCAACA)
c.5254+24_5254+25insACACCCAACA (n.5254+24_5254+25insACACCCAACA)
c.5293+24_5293+25insACACCCAACA (n.5293+24_5293+25insACACCCAACA)
c.5263+24_5263+25insACACCCAACA (n.5263+24_5263+25insACACCCAACA)
n.2085+24_2085+25insACACCCAACA
c.5158+24_5158+25insACACCCAACA (n.5158+24_5158+25insACACCCAACA)
c.5221+24_5221+25insACACCCAACA (n.5221+24_5221+25insACACCCAACA)
c.5161+24_5161+25insACACCCAACA (n.5161+24_5161+25insACACCCAACA)
c.5359+24_5359+25insACACCCAACA (n.5359+24_5359+25insACACCCAACA)
c.5356+24_5356+25insACACCCAACA (n.5356+24_5356+25insACACCCAACA)
2g.71665329C>TCA2659554960DYSFc.2731+25C>T (n.2731+25C>T)
c.1948+25C>T (n.1948+25C>T)
c.2056+25C>T (n.2056+25C>T)
c.5200+25C>T (n.5200+25C>T)
c.5317+25C>T (n.5317+25C>T)
c.5203+25C>T (n.5203+25C>T)
c.5266+25C>T (n.5266+25C>T)
c.5314+25C>T (n.5314+25C>T)
c.5296+25C>T (n.5296+25C>T)
c.5224+25C>T (n.5224+25C>T)
c.5251+25C>T (n.5251+25C>T)
c.5254+25C>T (n.5254+25C>T)
c.5293+25C>T (n.5293+25C>T)
c.5263+25C>T (n.5263+25C>T)
n.2085+25C>T
c.5158+25C>T (n.5158+25C>T)
c.5221+25C>T (n.5221+25C>T)
c.5161+25C>T (n.5161+25C>T)
c.5359+25C>T (n.5359+25C>T)
c.5356+25C>T (n.5356+25C>T)
 gnomAD v4
2g.71665330A=CA1260150225DYSFc.2731+26A= (n.2731+26A=)
c.1948+26A= (n.1948+26A=)
c.2056+26A= (n.2056+26A=)
c.5200+26A= (n.5200+26A=)
c.5317+26A= (n.5317+26A=)
c.5203+26A= (n.5203+26A=)
c.5266+26A= (n.5266+26A=)
c.5314+26A= (n.5314+26A=)
c.5296+26A= (n.5296+26A=)
c.5224+26A= (n.5224+26A=)
c.5251+26A= (n.5251+26A=)
c.5254+26A= (n.5254+26A=)
c.5293+26A= (n.5293+26A=)
c.5263+26A= (n.5263+26A=)
n.2085+26A=
c.5158+26A= (n.5158+26A=)
c.5221+26A= (n.5221+26A=)
c.5161+26A= (n.5161+26A=)
c.5359+26A= (n.5359+26A=)
c.5356+26A= (n.5356+26A=)
2g.71665330A>GCA1260150226DYSFc.2731+26A>G (n.2731+26A>G)
c.1948+26A>G (n.1948+26A>G)
c.2056+26A>G (n.2056+26A>G)
c.5200+26A>G (n.5200+26A>G)
c.5317+26A>G (n.5317+26A>G)
c.5203+26A>G (n.5203+26A>G)
c.5266+26A>G (n.5266+26A>G)
c.5314+26A>G (n.5314+26A>G)
c.5296+26A>G (n.5296+26A>G)
c.5224+26A>G (n.5224+26A>G)
c.5251+26A>G (n.5251+26A>G)
c.5254+26A>G (n.5254+26A>G)
c.5293+26A>G (n.5293+26A>G)
c.5263+26A>G (n.5263+26A>G)
n.2085+26A>G
c.5158+26A>G (n.5158+26A>G)
c.5221+26A>G (n.5221+26A>G)
c.5161+26A>G (n.5161+26A>G)
c.5359+26A>G (n.5359+26A>G)
c.5356+26A>G (n.5356+26A>G)
 dbSNP
2g.71665331T>CCA2577000731DYSFc.2731+27T>C (n.2731+27T>C)
c.1948+27T>C (n.1948+27T>C)
c.2056+27T>C (n.2056+27T>C)
c.5200+27T>C (n.5200+27T>C)
c.5317+27T>C (n.5317+27T>C)
c.5203+27T>C (n.5203+27T>C)
c.5266+27T>C (n.5266+27T>C)
c.5314+27T>C (n.5314+27T>C)
c.5296+27T>C (n.5296+27T>C)
c.5224+27T>C (n.5224+27T>C)
c.5251+27T>C (n.5251+27T>C)
c.5254+27T>C (n.5254+27T>C)
c.5293+27T>C (n.5293+27T>C)
c.5263+27T>C (n.5263+27T>C)
n.2085+27T>C
c.5158+27T>C (n.5158+27T>C)
c.5221+27T>C (n.5221+27T>C)
c.5161+27T>C (n.5161+27T>C)
c.5359+27T>C (n.5359+27T>C)
c.5356+27T>C (n.5356+27T>C)
2g.71665332G>ACA1260150228DYSFc.2731+28G>A (n.2731+28G>A)
c.1948+28G>A (n.1948+28G>A)
c.2056+28G>A (n.2056+28G>A)
c.5200+28G>A (n.5200+28G>A)
c.5317+28G>A (n.5317+28G>A)
c.5203+28G>A (n.5203+28G>A)
c.5266+28G>A (n.5266+28G>A)
c.5314+28G>A (n.5314+28G>A)
c.5296+28G>A (n.5296+28G>A)
c.5224+28G>A (n.5224+28G>A)
c.5251+28G>A (n.5251+28G>A)
c.5254+28G>A (n.5254+28G>A)
c.5293+28G>A (n.5293+28G>A)
c.5263+28G>A (n.5263+28G>A)
n.2085+28G>A
c.5158+28G>A (n.5158+28G>A)
c.5221+28G>A (n.5221+28G>A)
c.5161+28G>A (n.5161+28G>A)
c.5359+28G>A (n.5359+28G>A)
c.5356+28G>A (n.5356+28G>A)
 dbSNP gnomAD v4
2g.71665332G=CA1260150227DYSFc.2731+28G= (n.2731+28G=)
c.1948+28G= (n.1948+28G=)
c.2056+28G= (n.2056+28G=)
c.5200+28G= (n.5200+28G=)
c.5317+28G= (n.5317+28G=)
c.5203+28G= (n.5203+28G=)
c.5266+28G= (n.5266+28G=)
c.5314+28G= (n.5314+28G=)
c.5296+28G= (n.5296+28G=)
c.5224+28G= (n.5224+28G=)
c.5251+28G= (n.5251+28G=)
c.5254+28G= (n.5254+28G=)
c.5293+28G= (n.5293+28G=)
c.5263+28G= (n.5263+28G=)
n.2085+28G=
c.5158+28G= (n.5158+28G=)
c.5221+28G= (n.5221+28G=)
c.5161+28G= (n.5161+28G=)
c.5359+28G= (n.5359+28G=)
c.5356+28G= (n.5356+28G=)
2g.71665335G>ACA2659554961DYSFc.2731+31G>A (n.2731+31G>A)
c.1948+31G>A (n.1948+31G>A)
c.2056+31G>A (n.2056+31G>A)
c.5200+31G>A (n.5200+31G>A)
c.5317+31G>A (n.5317+31G>A)
c.5203+31G>A (n.5203+31G>A)
c.5266+31G>A (n.5266+31G>A)
c.5314+31G>A (n.5314+31G>A)
c.5296+31G>A (n.5296+31G>A)
c.5224+31G>A (n.5224+31G>A)
c.5251+31G>A (n.5251+31G>A)
c.5254+31G>A (n.5254+31G>A)
c.5293+31G>A (n.5293+31G>A)
c.5263+31G>A (n.5263+31G>A)
n.2085+31G>A
c.5158+31G>A (n.5158+31G>A)
c.5221+31G>A (n.5221+31G>A)
c.5161+31G>A (n.5161+31G>A)
c.5359+31G>A (n.5359+31G>A)
c.5356+31G>A (n.5356+31G>A)
 gnomAD v4
2g.71665336G>ACA1707322DYSFc.2731+32G>A (n.2731+32G>A)
c.1948+32G>A (n.1948+32G>A)
c.2056+32G>A (n.2056+32G>A)
c.5200+32G>A (n.5200+32G>A)
c.5317+32G>A (n.5317+32G>A)
c.5203+32G>A (n.5203+32G>A)
c.5266+32G>A (n.5266+32G>A)
c.5314+32G>A (n.5314+32G>A)
c.5296+32G>A (n.5296+32G>A)
c.5224+32G>A (n.5224+32G>A)
c.5251+32G>A (n.5251+32G>A)
c.5254+32G>A (n.5254+32G>A)
c.5293+32G>A (n.5293+32G>A)
c.5263+32G>A (n.5263+32G>A)
n.2085+32G>A
c.5158+32G>A (n.5158+32G>A)
c.5221+32G>A (n.5221+32G>A)
c.5161+32G>A (n.5161+32G>A)
c.5359+32G>A (n.5359+32G>A)
c.5356+32G>A (n.5356+32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71665336G=CA1260150229DYSFc.2731+32G= (n.2731+32G=)
c.1948+32G= (n.1948+32G=)
c.2056+32G= (n.2056+32G=)
c.5200+32G= (n.5200+32G=)
c.5317+32G= (n.5317+32G=)
c.5203+32G= (n.5203+32G=)
c.5266+32G= (n.5266+32G=)
c.5314+32G= (n.5314+32G=)
c.5296+32G= (n.5296+32G=)
c.5224+32G= (n.5224+32G=)
c.5251+32G= (n.5251+32G=)
c.5254+32G= (n.5254+32G=)
c.5293+32G= (n.5293+32G=)
c.5263+32G= (n.5263+32G=)
n.2085+32G=
c.5158+32G= (n.5158+32G=)
c.5221+32G= (n.5221+32G=)
c.5161+32G= (n.5161+32G=)
c.5359+32G= (n.5359+32G=)
c.5356+32G= (n.5356+32G=)
2g.71665337G>ACA1260150231DYSFc.2731+33G>A (n.2731+33G>A)
c.1948+33G>A (n.1948+33G>A)
c.2056+33G>A (n.2056+33G>A)
c.5200+33G>A (n.5200+33G>A)
c.5317+33G>A (n.5317+33G>A)
c.5203+33G>A (n.5203+33G>A)
c.5266+33G>A (n.5266+33G>A)
c.5314+33G>A (n.5314+33G>A)
c.5296+33G>A (n.5296+33G>A)
c.5224+33G>A (n.5224+33G>A)
c.5251+33G>A (n.5251+33G>A)
c.5254+33G>A (n.5254+33G>A)
c.5293+33G>A (n.5293+33G>A)
c.5263+33G>A (n.5263+33G>A)
n.2085+33G>A
c.5158+33G>A (n.5158+33G>A)
c.5221+33G>A (n.5221+33G>A)
c.5161+33G>A (n.5161+33G>A)
c.5359+33G>A (n.5359+33G>A)
c.5356+33G>A (n.5356+33G>A)
 dbSNP gnomAD v4
2g.71665337G>CCA2659554962DYSFc.2731+33G>C (n.2731+33G>C)
c.1948+33G>C (n.1948+33G>C)
c.2056+33G>C (n.2056+33G>C)
c.5200+33G>C (n.5200+33G>C)
c.5317+33G>C (n.5317+33G>C)
c.5203+33G>C (n.5203+33G>C)
c.5266+33G>C (n.5266+33G>C)
c.5314+33G>C (n.5314+33G>C)
c.5296+33G>C (n.5296+33G>C)
c.5224+33G>C (n.5224+33G>C)
c.5251+33G>C (n.5251+33G>C)
c.5254+33G>C (n.5254+33G>C)
c.5293+33G>C (n.5293+33G>C)
c.5263+33G>C (n.5263+33G>C)
n.2085+33G>C
c.5158+33G>C (n.5158+33G>C)
c.5221+33G>C (n.5221+33G>C)
c.5161+33G>C (n.5161+33G>C)
c.5359+33G>C (n.5359+33G>C)
c.5356+33G>C (n.5356+33G>C)
 gnomAD v4
2g.71665337G=CA1260150230DYSFc.2731+33G= (n.2731+33G=)
c.1948+33G= (n.1948+33G=)
c.2056+33G= (n.2056+33G=)
c.5200+33G= (n.5200+33G=)
c.5317+33G= (n.5317+33G=)
c.5203+33G= (n.5203+33G=)
c.5266+33G= (n.5266+33G=)
c.5314+33G= (n.5314+33G=)
c.5296+33G= (n.5296+33G=)
c.5224+33G= (n.5224+33G=)
c.5251+33G= (n.5251+33G=)
c.5254+33G= (n.5254+33G=)
c.5293+33G= (n.5293+33G=)
c.5263+33G= (n.5263+33G=)
n.2085+33G=
c.5158+33G= (n.5158+33G=)
c.5221+33G= (n.5221+33G=)
c.5161+33G= (n.5161+33G=)
c.5359+33G= (n.5359+33G=)
c.5356+33G= (n.5356+33G=)
2g.71665338C=CA1260150232DYSFc.2731+34C= (n.2731+34C=)
c.1948+34C= (n.1948+34C=)
c.2056+34C= (n.2056+34C=)
c.5200+34C= (n.5200+34C=)
c.5317+34C= (n.5317+34C=)
c.5203+34C= (n.5203+34C=)
c.5266+34C= (n.5266+34C=)
c.5314+34C= (n.5314+34C=)
c.5296+34C= (n.5296+34C=)
c.5224+34C= (n.5224+34C=)
c.5251+34C= (n.5251+34C=)
c.5254+34C= (n.5254+34C=)
c.5293+34C= (n.5293+34C=)
c.5263+34C= (n.5263+34C=)
n.2085+34C=
c.5158+34C= (n.5158+34C=)
c.5221+34C= (n.5221+34C=)
c.5161+34C= (n.5161+34C=)
c.5359+34C= (n.5359+34C=)
c.5356+34C= (n.5356+34C=)
2g.71665338C>GCA533263799DYSFc.2731+34C>G (n.2731+34C>G)
c.1948+34C>G (n.1948+34C>G)
c.2056+34C>G (n.2056+34C>G)
c.5200+34C>G (n.5200+34C>G)
c.5317+34C>G (n.5317+34C>G)
c.5203+34C>G (n.5203+34C>G)
c.5266+34C>G (n.5266+34C>G)
c.5314+34C>G (n.5314+34C>G)
c.5296+34C>G (n.5296+34C>G)
c.5224+34C>G (n.5224+34C>G)
c.5251+34C>G (n.5251+34C>G)
c.5254+34C>G (n.5254+34C>G)
c.5293+34C>G (n.5293+34C>G)
c.5263+34C>G (n.5263+34C>G)
n.2085+34C>G
c.5158+34C>G (n.5158+34C>G)
c.5221+34C>G (n.5221+34C>G)
c.5161+34C>G (n.5161+34C>G)
c.5359+34C>G (n.5359+34C>G)
c.5356+34C>G (n.5356+34C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71665338C>TCA1707323DYSFc.2731+34C>T (n.2731+34C>T)
c.1948+34C>T (n.1948+34C>T)
c.2056+34C>T (n.2056+34C>T)
c.5200+34C>T (n.5200+34C>T)
c.5317+34C>T (n.5317+34C>T)
c.5203+34C>T (n.5203+34C>T)
c.5266+34C>T (n.5266+34C>T)
c.5314+34C>T (n.5314+34C>T)
c.5296+34C>T (n.5296+34C>T)
c.5224+34C>T (n.5224+34C>T)
c.5251+34C>T (n.5251+34C>T)
c.5254+34C>T (n.5254+34C>T)
c.5293+34C>T (n.5293+34C>T)
c.5263+34C>T (n.5263+34C>T)
n.2085+34C>T
c.5158+34C>T (n.5158+34C>T)
c.5221+34C>T (n.5221+34C>T)
c.5161+34C>T (n.5161+34C>T)
c.5359+34C>T (n.5359+34C>T)
c.5356+34C>T (n.5356+34C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665340C>TCA2659554963DYSFc.2731+36C>T (n.2731+36C>T)
c.1948+36C>T (n.1948+36C>T)
c.2056+36C>T (n.2056+36C>T)
c.5200+36C>T (n.5200+36C>T)
c.5317+36C>T (n.5317+36C>T)
c.5203+36C>T (n.5203+36C>T)
c.5266+36C>T (n.5266+36C>T)
c.5314+36C>T (n.5314+36C>T)
c.5296+36C>T (n.5296+36C>T)
c.5224+36C>T (n.5224+36C>T)
c.5251+36C>T (n.5251+36C>T)
c.5254+36C>T (n.5254+36C>T)
c.5293+36C>T (n.5293+36C>T)
c.5263+36C>T (n.5263+36C>T)
n.2085+36C>T
c.5158+36C>T (n.5158+36C>T)
c.5221+36C>T (n.5221+36C>T)
c.5161+36C>T (n.5161+36C>T)
c.5359+36C>T (n.5359+36C>T)
c.5356+36C>T (n.5356+36C>T)
 gnomAD v4
2g.71665342C=CA1260150233DYSFc.2731+38C= (n.2731+38C=)
c.1948+38C= (n.1948+38C=)
c.2056+38C= (n.2056+38C=)
c.5200+38C= (n.5200+38C=)
c.5317+38C= (n.5317+38C=)
c.5203+38C= (n.5203+38C=)
c.5266+38C= (n.5266+38C=)
c.5314+38C= (n.5314+38C=)
c.5296+38C= (n.5296+38C=)
c.5224+38C= (n.5224+38C=)
c.5251+38C= (n.5251+38C=)
c.5254+38C= (n.5254+38C=)
c.5293+38C= (n.5293+38C=)
c.5263+38C= (n.5263+38C=)
n.2085+38C=
c.5158+38C= (n.5158+38C=)
c.5221+38C= (n.5221+38C=)
c.5161+38C= (n.5161+38C=)
c.5359+38C= (n.5359+38C=)
c.5356+38C= (n.5356+38C=)
2g.71665342C>TCA1707324DYSFc.2731+38C>T (n.2731+38C>T)
c.1948+38C>T (n.1948+38C>T)
c.2056+38C>T (n.2056+38C>T)
c.5200+38C>T (n.5200+38C>T)
c.5317+38C>T (n.5317+38C>T)
c.5203+38C>T (n.5203+38C>T)
c.5266+38C>T (n.5266+38C>T)
c.5314+38C>T (n.5314+38C>T)
c.5296+38C>T (n.5296+38C>T)
c.5224+38C>T (n.5224+38C>T)
c.5251+38C>T (n.5251+38C>T)
c.5254+38C>T (n.5254+38C>T)
c.5293+38C>T (n.5293+38C>T)
c.5263+38C>T (n.5263+38C>T)
n.2085+38C>T
c.5158+38C>T (n.5158+38C>T)
c.5221+38C>T (n.5221+38C>T)
c.5161+38C>T (n.5161+38C>T)
c.5359+38C>T (n.5359+38C>T)
c.5356+38C>T (n.5356+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665343G>ACA1707325DYSFc.2731+39G>A (n.2731+39G>A)
c.1948+39G>A (n.1948+39G>A)
c.2056+39G>A (n.2056+39G>A)
c.5200+39G>A (n.5200+39G>A)
c.5317+39G>A (n.5317+39G>A)
c.5203+39G>A (n.5203+39G>A)
c.5266+39G>A (n.5266+39G>A)
c.5314+39G>A (n.5314+39G>A)
c.5296+39G>A (n.5296+39G>A)
c.5224+39G>A (n.5224+39G>A)
c.5251+39G>A (n.5251+39G>A)
c.5254+39G>A (n.5254+39G>A)
c.5293+39G>A (n.5293+39G>A)
c.5263+39G>A (n.5263+39G>A)
n.2085+39G>A
c.5158+39G>A (n.5158+39G>A)
c.5221+39G>A (n.5221+39G>A)
c.5161+39G>A (n.5161+39G>A)
c.5359+39G>A (n.5359+39G>A)
c.5356+39G>A (n.5356+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665343G>CCA2659554965DYSFc.2731+39G>C (n.2731+39G>C)
c.1948+39G>C (n.1948+39G>C)
c.2056+39G>C (n.2056+39G>C)
c.5200+39G>C (n.5200+39G>C)
c.5317+39G>C (n.5317+39G>C)
c.5203+39G>C (n.5203+39G>C)
c.5266+39G>C (n.5266+39G>C)
c.5314+39G>C (n.5314+39G>C)
c.5296+39G>C (n.5296+39G>C)
c.5224+39G>C (n.5224+39G>C)
c.5251+39G>C (n.5251+39G>C)
c.5254+39G>C (n.5254+39G>C)
c.5293+39G>C (n.5293+39G>C)
c.5263+39G>C (n.5263+39G>C)
n.2085+39G>C
c.5158+39G>C (n.5158+39G>C)
c.5221+39G>C (n.5221+39G>C)
c.5161+39G>C (n.5161+39G>C)
c.5359+39G>C (n.5359+39G>C)
c.5356+39G>C (n.5356+39G>C)
 dbSNP gnomAD v4
2g.71665343G=CA1260150234DYSFc.2731+39G= (n.2731+39G=)
c.1948+39G= (n.1948+39G=)
c.2056+39G= (n.2056+39G=)
c.5200+39G= (n.5200+39G=)
c.5317+39G= (n.5317+39G=)
c.5203+39G= (n.5203+39G=)
c.5266+39G= (n.5266+39G=)
c.5314+39G= (n.5314+39G=)
c.5296+39G= (n.5296+39G=)
c.5224+39G= (n.5224+39G=)
c.5251+39G= (n.5251+39G=)
c.5254+39G= (n.5254+39G=)
c.5293+39G= (n.5293+39G=)
c.5263+39G= (n.5263+39G=)
n.2085+39G=
c.5158+39G= (n.5158+39G=)
c.5221+39G= (n.5221+39G=)
c.5161+39G= (n.5161+39G=)
c.5359+39G= (n.5359+39G=)
c.5356+39G= (n.5356+39G=)
2g.71665343G>TCA1707326DYSFc.2731+39G>T (n.2731+39G>T)
c.1948+39G>T (n.1948+39G>T)
c.2056+39G>T (n.2056+39G>T)
c.5200+39G>T (n.5200+39G>T)
c.5317+39G>T (n.5317+39G>T)
c.5203+39G>T (n.5203+39G>T)
c.5266+39G>T (n.5266+39G>T)
c.5314+39G>T (n.5314+39G>T)
c.5296+39G>T (n.5296+39G>T)
c.5224+39G>T (n.5224+39G>T)
c.5251+39G>T (n.5251+39G>T)
c.5254+39G>T (n.5254+39G>T)
c.5293+39G>T (n.5293+39G>T)
c.5263+39G>T (n.5263+39G>T)
n.2085+39G>T
c.5158+39G>T (n.5158+39G>T)
c.5221+39G>T (n.5221+39G>T)
c.5161+39G>T (n.5161+39G>T)
c.5359+39G>T (n.5359+39G>T)
c.5356+39G>T (n.5356+39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665343dupCA2659554964DYSFc.2731+39dup (n.2731+39dup)
c.1948+39dup (n.1948+39dup)
c.2056+39dup (n.2056+39dup)
c.5200+39dup (n.5200+39dup)
c.5317+39dup (n.5317+39dup)
c.5203+39dup (n.5203+39dup)
c.5266+39dup (n.5266+39dup)
c.5314+39dup (n.5314+39dup)
c.5296+39dup (n.5296+39dup)
c.5224+39dup (n.5224+39dup)
c.5251+39dup (n.5251+39dup)
c.5254+39dup (n.5254+39dup)
c.5293+39dup (n.5293+39dup)
c.5263+39dup (n.5263+39dup)
n.2085+39dup
c.5158+39dup (n.5158+39dup)
c.5221+39dup (n.5221+39dup)
c.5161+39dup (n.5161+39dup)
c.5359+39dup (n.5359+39dup)
c.5356+39dup (n.5356+39dup)
 gnomAD v4
2g.71665344C>ACA2659554966DYSFc.2731+40C>A (n.2731+40C>A)
c.1948+40C>A (n.1948+40C>A)
c.2056+40C>A (n.2056+40C>A)
c.5200+40C>A (n.5200+40C>A)
c.5317+40C>A (n.5317+40C>A)
c.5203+40C>A (n.5203+40C>A)
c.5266+40C>A (n.5266+40C>A)
c.5314+40C>A (n.5314+40C>A)
c.5296+40C>A (n.5296+40C>A)
c.5224+40C>A (n.5224+40C>A)
c.5251+40C>A (n.5251+40C>A)
c.5254+40C>A (n.5254+40C>A)
c.5293+40C>A (n.5293+40C>A)
c.5263+40C>A (n.5263+40C>A)
n.2085+40C>A
c.5158+40C>A (n.5158+40C>A)
c.5221+40C>A (n.5221+40C>A)
c.5161+40C>A (n.5161+40C>A)
c.5359+40C>A (n.5359+40C>A)
c.5356+40C>A (n.5356+40C>A)
 gnomAD v4
2g.71665344C>GCA2659554968DYSFc.2731+40C>G (n.2731+40C>G)
c.1948+40C>G (n.1948+40C>G)
c.2056+40C>G (n.2056+40C>G)
c.5200+40C>G (n.5200+40C>G)
c.5317+40C>G (n.5317+40C>G)
c.5203+40C>G (n.5203+40C>G)
c.5266+40C>G (n.5266+40C>G)
c.5314+40C>G (n.5314+40C>G)
c.5296+40C>G (n.5296+40C>G)
c.5224+40C>G (n.5224+40C>G)
c.5251+40C>G (n.5251+40C>G)
c.5254+40C>G (n.5254+40C>G)
c.5293+40C>G (n.5293+40C>G)
c.5263+40C>G (n.5263+40C>G)
n.2085+40C>G
c.5158+40C>G (n.5158+40C>G)
c.5221+40C>G (n.5221+40C>G)
c.5161+40C>G (n.5161+40C>G)
c.5359+40C>G (n.5359+40C>G)
c.5356+40C>G (n.5356+40C>G)
 gnomAD v4
2g.71665344C>TCA2659554967DYSFc.2731+40C>T (n.2731+40C>T)
c.1948+40C>T (n.1948+40C>T)
c.2056+40C>T (n.2056+40C>T)
c.5200+40C>T (n.5200+40C>T)
c.5317+40C>T (n.5317+40C>T)
c.5203+40C>T (n.5203+40C>T)
c.5266+40C>T (n.5266+40C>T)
c.5314+40C>T (n.5314+40C>T)
c.5296+40C>T (n.5296+40C>T)
c.5224+40C>T (n.5224+40C>T)
c.5251+40C>T (n.5251+40C>T)
c.5254+40C>T (n.5254+40C>T)
c.5293+40C>T (n.5293+40C>T)
c.5263+40C>T (n.5263+40C>T)
n.2085+40C>T
c.5158+40C>T (n.5158+40C>T)
c.5221+40C>T (n.5221+40C>T)
c.5161+40C>T (n.5161+40C>T)
c.5359+40C>T (n.5359+40C>T)
c.5356+40C>T (n.5356+40C>T)
 gnomAD v4
2g.71665346G>ACA2659554969DYSFc.2731+42G>A (n.2731+42G>A)
c.1948+42G>A (n.1948+42G>A)
c.2056+42G>A (n.2056+42G>A)
c.5200+42G>A (n.5200+42G>A)
c.5317+42G>A (n.5317+42G>A)
c.5203+42G>A (n.5203+42G>A)
c.5266+42G>A (n.5266+42G>A)
c.5314+42G>A (n.5314+42G>A)
c.5296+42G>A (n.5296+42G>A)
c.5224+42G>A (n.5224+42G>A)
c.5251+42G>A (n.5251+42G>A)
c.5254+42G>A (n.5254+42G>A)
c.5293+42G>A (n.5293+42G>A)
c.5263+42G>A (n.5263+42G>A)
n.2085+42G>A
c.5158+42G>A (n.5158+42G>A)
c.5221+42G>A (n.5221+42G>A)
c.5161+42G>A (n.5161+42G>A)
c.5359+42G>A (n.5359+42G>A)
c.5356+42G>A (n.5356+42G>A)
 gnomAD v4
2g.71665346G>CCA1707327DYSFc.2731+42G>C (n.2731+42G>C)
c.1948+42G>C (n.1948+42G>C)
c.2056+42G>C (n.2056+42G>C)
c.5200+42G>C (n.5200+42G>C)
c.5317+42G>C (n.5317+42G>C)
c.5203+42G>C (n.5203+42G>C)
c.5266+42G>C (n.5266+42G>C)
c.5314+42G>C (n.5314+42G>C)
c.5296+42G>C (n.5296+42G>C)
c.5224+42G>C (n.5224+42G>C)
c.5251+42G>C (n.5251+42G>C)
c.5254+42G>C (n.5254+42G>C)
c.5293+42G>C (n.5293+42G>C)
c.5263+42G>C (n.5263+42G>C)
n.2085+42G>C
c.5158+42G>C (n.5158+42G>C)
c.5221+42G>C (n.5221+42G>C)
c.5161+42G>C (n.5161+42G>C)
c.5359+42G>C (n.5359+42G>C)
c.5356+42G>C (n.5356+42G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71665346G=CA1260150235DYSFc.2731+42G= (n.2731+42G=)
c.1948+42G= (n.1948+42G=)
c.2056+42G= (n.2056+42G=)
c.5200+42G= (n.5200+42G=)
c.5317+42G= (n.5317+42G=)
c.5203+42G= (n.5203+42G=)
c.5266+42G= (n.5266+42G=)
c.5314+42G= (n.5314+42G=)
c.5296+42G= (n.5296+42G=)
c.5224+42G= (n.5224+42G=)
c.5251+42G= (n.5251+42G=)
c.5254+42G= (n.5254+42G=)
c.5293+42G= (n.5293+42G=)
c.5263+42G= (n.5263+42G=)
n.2085+42G=
c.5158+42G= (n.5158+42G=)
c.5221+42G= (n.5221+42G=)
c.5161+42G= (n.5161+42G=)
c.5359+42G= (n.5359+42G=)
c.5356+42G= (n.5356+42G=)
2g.71665347T>CCA49767409DYSFc.2731+43T>C (n.2731+43T>C)
c.1948+43T>C (n.1948+43T>C)
c.2056+43T>C (n.2056+43T>C)
c.5200+43T>C (n.5200+43T>C)
c.5317+43T>C (n.5317+43T>C)
c.5203+43T>C (n.5203+43T>C)
c.5266+43T>C (n.5266+43T>C)
c.5314+43T>C (n.5314+43T>C)
c.5296+43T>C (n.5296+43T>C)
c.5224+43T>C (n.5224+43T>C)
c.5251+43T>C (n.5251+43T>C)
c.5254+43T>C (n.5254+43T>C)
c.5293+43T>C (n.5293+43T>C)
c.5263+43T>C (n.5263+43T>C)
n.2085+43T>C
c.5158+43T>C (n.5158+43T>C)
c.5221+43T>C (n.5221+43T>C)
c.5161+43T>C (n.5161+43T>C)
c.5359+43T>C (n.5359+43T>C)
c.5356+43T>C (n.5356+43T>C)
 dbSNP
2g.71665347T=CA1260150236DYSFc.2731+43T= (n.2731+43T=)
c.1948+43T= (n.1948+43T=)
c.2056+43T= (n.2056+43T=)
c.5200+43T= (n.5200+43T=)
c.5317+43T= (n.5317+43T=)
c.5203+43T= (n.5203+43T=)
c.5266+43T= (n.5266+43T=)
c.5314+43T= (n.5314+43T=)
c.5296+43T= (n.5296+43T=)
c.5224+43T= (n.5224+43T=)
c.5251+43T= (n.5251+43T=)
c.5254+43T= (n.5254+43T=)
c.5293+43T= (n.5293+43T=)
c.5263+43T= (n.5263+43T=)
n.2085+43T=
c.5158+43T= (n.5158+43T=)
c.5221+43T= (n.5221+43T=)
c.5161+43T= (n.5161+43T=)
c.5359+43T= (n.5359+43T=)
c.5356+43T= (n.5356+43T=)
2g.71665348A=CA1260150237DYSFc.2731+44A= (n.2731+44A=)
c.1948+44A= (n.1948+44A=)
c.2056+44A= (n.2056+44A=)
c.5200+44A= (n.5200+44A=)
c.5317+44A= (n.5317+44A=)
c.5203+44A= (n.5203+44A=)
c.5266+44A= (n.5266+44A=)
c.5314+44A= (n.5314+44A=)
c.5296+44A= (n.5296+44A=)
c.5224+44A= (n.5224+44A=)
c.5251+44A= (n.5251+44A=)
c.5254+44A= (n.5254+44A=)
c.5293+44A= (n.5293+44A=)
c.5263+44A= (n.5263+44A=)
n.2085+44A=
c.5158+44A= (n.5158+44A=)
c.5221+44A= (n.5221+44A=)
c.5161+44A= (n.5161+44A=)
c.5359+44A= (n.5359+44A=)
c.5356+44A= (n.5356+44A=)
2g.71665348A>GCA533263803DYSFc.2731+44A>G (n.2731+44A>G)
c.1948+44A>G (n.1948+44A>G)
c.2056+44A>G (n.2056+44A>G)
c.5200+44A>G (n.5200+44A>G)
c.5317+44A>G (n.5317+44A>G)
c.5203+44A>G (n.5203+44A>G)
c.5266+44A>G (n.5266+44A>G)
c.5314+44A>G (n.5314+44A>G)
c.5296+44A>G (n.5296+44A>G)
c.5224+44A>G (n.5224+44A>G)
c.5251+44A>G (n.5251+44A>G)
c.5254+44A>G (n.5254+44A>G)
c.5293+44A>G (n.5293+44A>G)
c.5263+44A>G (n.5263+44A>G)
n.2085+44A>G
c.5158+44A>G (n.5158+44A>G)
c.5221+44A>G (n.5221+44A>G)
c.5161+44A>G (n.5161+44A>G)
c.5359+44A>G (n.5359+44A>G)
c.5356+44A>G (n.5356+44A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71665355_71665358delCA2577000732DYSFc.2731+51_2731+54del (n.2731+51_2731+54del)
c.1948+51_1948+54del (n.1948+51_1948+54del)
c.2056+51_2056+54del (n.2056+51_2056+54del)
c.5200+51_5200+54del (n.5200+51_5200+54del)
c.5317+51_5317+54del (n.5317+51_5317+54del)
c.5203+51_5203+54del (n.5203+51_5203+54del)
c.5266+51_5266+54del (n.5266+51_5266+54del)
c.5314+51_5314+54del (n.5314+51_5314+54del)
c.5296+51_5296+54del (n.5296+51_5296+54del)
c.5224+51_5224+54del (n.5224+51_5224+54del)
c.5251+51_5251+54del (n.5251+51_5251+54del)
c.5254+51_5254+54del (n.5254+51_5254+54del)
c.5293+51_5293+54del (n.5293+51_5293+54del)
c.5263+51_5263+54del (n.5263+51_5263+54del)
n.2085+51_2085+54del
c.5158+51_5158+54del (n.5158+51_5158+54del)
c.5221+51_5221+54del (n.5221+51_5221+54del)
c.5161+51_5161+54del (n.5161+51_5161+54del)
c.5359+51_5359+54del (n.5359+51_5359+54del)
c.5356+51_5356+54del (n.5356+51_5356+54del)
 gnomAD v4
2g.71665350C>ACA1260150239DYSFc.2731+46C>A (n.2731+46C>A)
c.1948+46C>A (n.1948+46C>A)
c.2056+46C>A (n.2056+46C>A)
c.5200+46C>A (n.5200+46C>A)
c.5317+46C>A (n.5317+46C>A)
c.5203+46C>A (n.5203+46C>A)
c.5266+46C>A (n.5266+46C>A)
c.5314+46C>A (n.5314+46C>A)
c.5296+46C>A (n.5296+46C>A)
c.5224+46C>A (n.5224+46C>A)
c.5251+46C>A (n.5251+46C>A)
c.5254+46C>A (n.5254+46C>A)
c.5293+46C>A (n.5293+46C>A)
c.5263+46C>A (n.5263+46C>A)
n.2085+46C>A
c.5158+46C>A (n.5158+46C>A)
c.5221+46C>A (n.5221+46C>A)
c.5161+46C>A (n.5161+46C>A)
c.5359+46C>A (n.5359+46C>A)
c.5356+46C>A (n.5356+46C>A)
 dbSNP gnomAD v4
2g.71665350C=CA1260150238DYSFc.2731+46C= (n.2731+46C=)
c.1948+46C= (n.1948+46C=)
c.2056+46C= (n.2056+46C=)
c.5200+46C= (n.5200+46C=)
c.5317+46C= (n.5317+46C=)
c.5203+46C= (n.5203+46C=)
c.5266+46C= (n.5266+46C=)
c.5314+46C= (n.5314+46C=)
c.5296+46C= (n.5296+46C=)
c.5224+46C= (n.5224+46C=)
c.5251+46C= (n.5251+46C=)
c.5254+46C= (n.5254+46C=)
c.5293+46C= (n.5293+46C=)
c.5263+46C= (n.5263+46C=)
n.2085+46C=
c.5158+46C= (n.5158+46C=)
c.5221+46C= (n.5221+46C=)
c.5161+46C= (n.5161+46C=)
c.5359+46C= (n.5359+46C=)
c.5356+46C= (n.5356+46C=)
2g.71665350C>TCA2659554970DYSFc.2731+46C>T (n.2731+46C>T)
c.1948+46C>T (n.1948+46C>T)
c.2056+46C>T (n.2056+46C>T)
c.5200+46C>T (n.5200+46C>T)
c.5317+46C>T (n.5317+46C>T)
c.5203+46C>T (n.5203+46C>T)
c.5266+46C>T (n.5266+46C>T)
c.5314+46C>T (n.5314+46C>T)
c.5296+46C>T (n.5296+46C>T)
c.5224+46C>T (n.5224+46C>T)
c.5251+46C>T (n.5251+46C>T)
c.5254+46C>T (n.5254+46C>T)
c.5293+46C>T (n.5293+46C>T)
c.5263+46C>T (n.5263+46C>T)
n.2085+46C>T
c.5158+46C>T (n.5158+46C>T)
c.5221+46C>T (n.5221+46C>T)
c.5161+46C>T (n.5161+46C>T)
c.5359+46C>T (n.5359+46C>T)
c.5356+46C>T (n.5356+46C>T)
 gnomAD v4
2g.71665352C>ACA2577000733DYSFc.2731+48C>A (n.2731+48C>A)
c.1948+48C>A (n.1948+48C>A)
c.2056+48C>A (n.2056+48C>A)
c.5200+48C>A (n.5200+48C>A)
c.5317+48C>A (n.5317+48C>A)
c.5203+48C>A (n.5203+48C>A)
c.5266+48C>A (n.5266+48C>A)
c.5314+48C>A (n.5314+48C>A)
c.5296+48C>A (n.5296+48C>A)
c.5224+48C>A (n.5224+48C>A)
c.5251+48C>A (n.5251+48C>A)
c.5254+48C>A (n.5254+48C>A)
c.5293+48C>A (n.5293+48C>A)
c.5263+48C>A (n.5263+48C>A)
n.2085+48C>A
c.5158+48C>A (n.5158+48C>A)
c.5221+48C>A (n.5221+48C>A)
c.5161+48C>A (n.5161+48C>A)
c.5359+48C>A (n.5359+48C>A)
c.5356+48C>A (n.5356+48C>A)
2g.71665352C>GCA2659554971DYSFc.2731+48C>G (n.2731+48C>G)
c.1948+48C>G (n.1948+48C>G)
c.2056+48C>G (n.2056+48C>G)
c.5200+48C>G (n.5200+48C>G)
c.5317+48C>G (n.5317+48C>G)
c.5203+48C>G (n.5203+48C>G)
c.5266+48C>G (n.5266+48C>G)
c.5314+48C>G (n.5314+48C>G)
c.5296+48C>G (n.5296+48C>G)
c.5224+48C>G (n.5224+48C>G)
c.5251+48C>G (n.5251+48C>G)
c.5254+48C>G (n.5254+48C>G)
c.5293+48C>G (n.5293+48C>G)
c.5263+48C>G (n.5263+48C>G)
n.2085+48C>G
c.5158+48C>G (n.5158+48C>G)
c.5221+48C>G (n.5221+48C>G)
c.5161+48C>G (n.5161+48C>G)
c.5359+48C>G (n.5359+48C>G)
c.5356+48C>G (n.5356+48C>G)
 gnomAD v4
2g.71665352C>TCA2659554972DYSFc.2731+48C>T (n.2731+48C>T)
c.1948+48C>T (n.1948+48C>T)
c.2056+48C>T (n.2056+48C>T)
c.5200+48C>T (n.5200+48C>T)
c.5317+48C>T (n.5317+48C>T)
c.5203+48C>T (n.5203+48C>T)
c.5266+48C>T (n.5266+48C>T)
c.5314+48C>T (n.5314+48C>T)
c.5296+48C>T (n.5296+48C>T)
c.5224+48C>T (n.5224+48C>T)
c.5251+48C>T (n.5251+48C>T)
c.5254+48C>T (n.5254+48C>T)
c.5293+48C>T (n.5293+48C>T)
c.5263+48C>T (n.5263+48C>T)
n.2085+48C>T
c.5158+48C>T (n.5158+48C>T)
c.5221+48C>T (n.5221+48C>T)
c.5161+48C>T (n.5161+48C>T)
c.5359+48C>T (n.5359+48C>T)
c.5356+48C>T (n.5356+48C>T)
 gnomAD v4
2g.71665354C=CA1260150241DYSFc.2731+50C= (n.2731+50C=)
c.1948+50C= (n.1948+50C=)
c.2056+50C= (n.2056+50C=)
c.5200+50C= (n.5200+50C=)
c.5317+50C= (n.5317+50C=)
c.5203+50C= (n.5203+50C=)
c.5266+50C= (n.5266+50C=)
c.5314+50C= (n.5314+50C=)
c.5296+50C= (n.5296+50C=)
c.5224+50C= (n.5224+50C=)
c.5251+50C= (n.5251+50C=)
c.5254+50C= (n.5254+50C=)
c.5293+50C= (n.5293+50C=)
c.5263+50C= (n.5263+50C=)
n.2085+50C=
c.5158+50C= (n.5158+50C=)
c.5221+50C= (n.5221+50C=)
c.5161+50C= (n.5161+50C=)
c.5359+50C= (n.5359+50C=)
c.5356+50C= (n.5356+50C=)
2g.71665354C>TCA1260150240DYSFc.2731+50C>T (n.2731+50C>T)
c.1948+50C>T (n.1948+50C>T)
c.2056+50C>T (n.2056+50C>T)
c.5200+50C>T (n.5200+50C>T)
c.5317+50C>T (n.5317+50C>T)
c.5203+50C>T (n.5203+50C>T)
c.5266+50C>T (n.5266+50C>T)
c.5314+50C>T (n.5314+50C>T)
c.5296+50C>T (n.5296+50C>T)
c.5224+50C>T (n.5224+50C>T)
c.5251+50C>T (n.5251+50C>T)
c.5254+50C>T (n.5254+50C>T)
c.5293+50C>T (n.5293+50C>T)
c.5263+50C>T (n.5263+50C>T)
n.2085+50C>T
c.5158+50C>T (n.5158+50C>T)
c.5221+50C>T (n.5221+50C>T)
c.5161+50C>T (n.5161+50C>T)
c.5359+50C>T (n.5359+50C>T)
c.5356+50C>T (n.5356+50C>T)
 dbSNP gnomAD v4
2g.71665356C>GCA2659554973DYSFc.2731+52C>G (n.2731+52C>G)
c.1948+52C>G (n.1948+52C>G)
c.2056+52C>G (n.2056+52C>G)
c.5200+52C>G (n.5200+52C>G)
c.5317+52C>G (n.5317+52C>G)
c.5203+52C>G (n.5203+52C>G)
c.5266+52C>G (n.5266+52C>G)
c.5314+52C>G (n.5314+52C>G)
c.5296+52C>G (n.5296+52C>G)
c.5224+52C>G (n.5224+52C>G)
c.5251+52C>G (n.5251+52C>G)
c.5254+52C>G (n.5254+52C>G)
c.5293+52C>G (n.5293+52C>G)
c.5263+52C>G (n.5263+52C>G)
n.2085+52C>G
c.5158+52C>G (n.5158+52C>G)
c.5221+52C>G (n.5221+52C>G)
c.5161+52C>G (n.5161+52C>G)
c.5359+52C>G (n.5359+52C>G)
c.5356+52C>G (n.5356+52C>G)
 gnomAD v4
2g.71665361_71665362delCA2577000734DYSFc.2731+57_2731+58del (n.2731+57_2731+58del)
c.1948+57_1948+58del (n.1948+57_1948+58del)
c.2056+57_2056+58del (n.2056+57_2056+58del)
c.5200+57_5200+58del (n.5200+57_5200+58del)
c.5317+57_5317+58del (n.5317+57_5317+58del)
c.5203+57_5203+58del (n.5203+57_5203+58del)
c.5266+57_5266+58del (n.5266+57_5266+58del)
c.5314+57_5314+58del (n.5314+57_5314+58del)
c.5296+57_5296+58del (n.5296+57_5296+58del)
c.5224+57_5224+58del (n.5224+57_5224+58del)
c.5251+57_5251+58del (n.5251+57_5251+58del)
c.5254+57_5254+58del (n.5254+57_5254+58del)
c.5293+57_5293+58del (n.5293+57_5293+58del)
c.5263+57_5263+58del (n.5263+57_5263+58del)
n.2085+57_2085+58del
c.5158+57_5158+58del (n.5158+57_5158+58del)
c.5221+57_5221+58del (n.5221+57_5221+58del)
c.5161+57_5161+58del (n.5161+57_5161+58del)
c.5359+57_5359+58del (n.5359+57_5359+58del)
c.5356+57_5356+58del (n.5356+57_5356+58del)
 gnomAD v4

Number of alleles fetched