Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71664343C>ACA426703943DYSFc.2493C>A (p.Ser831=)
c.1710C>A (p.Ser570=)
c.1818C>A (p.Ser606=)
c.4962C>A (p.Ser1654=)
c.5079C>A (p.Ser1693=)
c.4965C>A (p.Ser1655=)
c.5028C>A (p.Ser1676=)
c.5076C>A (p.Ser1692=)
c.5058C>A (p.Ser1686=)
c.4986C>A (p.Ser1662=)
c.5013C>A (p.Ser1671=)
c.5016C>A (p.Ser1672=)
c.5055C>A (p.Ser1685=)
c.5025C>A (p.Ser1675=)
n.1847C>A
c.4920C>A (p.Ser1640=)
c.4983C>A (p.Ser1661=)
c.4923C>A (p.Ser1641=)
c.5121C>A (p.Ser1707=)
c.5118C>A (p.Ser1706=)
n.5279C>A
2g.71664343C=CA1260149761DYSFc.2493C= (p.Ser831=)
c.1710C= (p.Ser570=)
c.1818C= (p.Ser606=)
c.4962C= (p.Ser1654=)
c.5079C= (p.Ser1693=)
c.4965C= (p.Ser1655=)
c.5028C= (p.Ser1676=)
c.5076C= (p.Ser1692=)
c.5058C= (p.Ser1686=)
c.4986C= (p.Ser1662=)
c.5013C= (p.Ser1671=)
c.5016C= (p.Ser1672=)
c.5055C= (p.Ser1685=)
c.5025C= (p.Ser1675=)
n.1847C=
c.4920C= (p.Ser1640=)
c.4983C= (p.Ser1661=)
c.4923C= (p.Ser1641=)
c.5121C= (p.Ser1707=)
c.5118C= (p.Ser1706=)
n.5279C=
2g.71664343C>GCA426703944DYSFc.2493C>G (p.Ser831=)
c.1710C>G (p.Ser570=)
c.1818C>G (p.Ser606=)
c.4962C>G (p.Ser1654=)
c.5079C>G (p.Ser1693=)
c.4965C>G (p.Ser1655=)
c.5028C>G (p.Ser1676=)
c.5076C>G (p.Ser1692=)
c.5058C>G (p.Ser1686=)
c.4986C>G (p.Ser1662=)
c.5013C>G (p.Ser1671=)
c.5016C>G (p.Ser1672=)
c.5055C>G (p.Ser1685=)
c.5025C>G (p.Ser1675=)
n.1847C>G
c.4920C>G (p.Ser1640=)
c.4983C>G (p.Ser1661=)
c.4923C>G (p.Ser1641=)
c.5121C>G (p.Ser1707=)
c.5118C>G (p.Ser1706=)
n.5279C>G
2g.71664343C>TCA1707236DYSFc.2493C>T (p.Ser831=)
c.1710C>T (p.Ser570=)
c.1818C>T (p.Ser606=)
c.4962C>T (p.Ser1654=)
c.5079C>T (p.Ser1693=)
c.4965C>T (p.Ser1655=)
c.5028C>T (p.Ser1676=)
c.5076C>T (p.Ser1692=)
c.5058C>T (p.Ser1686=)
c.4986C>T (p.Ser1662=)
c.5013C>T (p.Ser1671=)
c.5016C>T (p.Ser1672=)
c.5055C>T (p.Ser1685=)
c.5025C>T (p.Ser1675=)
n.1847C>T
c.4920C>T (p.Ser1640=)
c.4983C>T (p.Ser1661=)
c.4923C>T (p.Ser1641=)
c.5121C>T (p.Ser1707=)
c.5118C>T (p.Ser1706=)
n.5279C>T
 dbSNP ExAC gnomAD v2
2g.71664344A=CA1260149762DYSFc.2494A= (p.Lys832=)
c.1711A= (p.Lys571=)
c.1819A= (p.Lys607=)
c.4963A= (p.Lys1655=)
c.5080A= (p.Lys1694=)
c.4966A= (p.Lys1656=)
c.5029A= (p.Lys1677=)
c.5077A= (p.Lys1693=)
c.5059A= (p.Lys1687=)
c.4987A= (p.Lys1663=)
c.5014A= (p.Lys1672=)
c.5017A= (p.Lys1673=)
c.5056A= (p.Lys1686=)
c.5026A= (p.Lys1676=)
n.1848A=
c.4921A= (p.Lys1641=)
c.4984A= (p.Lys1662=)
c.4924A= (p.Lys1642=)
c.5122A= (p.Lys1708=)
c.5119A= (p.Lys1707=)
n.5280A=
2g.71664344A>CCA347220364DYSFc.2494A>C (p.Lys832Gln)
c.1711A>C (p.Lys571Gln)
c.1819A>C (p.Lys607Gln)
c.4963A>C (p.Lys1655Gln)
c.5080A>C (p.Lys1694Gln)
c.4966A>C (p.Lys1656Gln)
c.5029A>C (p.Lys1677Gln)
c.5077A>C (p.Lys1693Gln)
c.5059A>C (p.Lys1687Gln)
c.4987A>C (p.Lys1663Gln)
c.5014A>C (p.Lys1672Gln)
c.5017A>C (p.Lys1673Gln)
c.5056A>C (p.Lys1686Gln)
c.5026A>C (p.Lys1676Gln)
n.1848A>C
c.4921A>C (p.Lys1641Gln)
c.4984A>C (p.Lys1662Gln)
c.4924A>C (p.Lys1642Gln)
c.5122A>C (p.Lys1708Gln)
c.5119A>C (p.Lys1707Gln)
n.5280A>C
2g.71664344A>GCA347220365DYSFc.2494A>G (p.Lys832Glu)
c.1711A>G (p.Lys571Glu)
c.1819A>G (p.Lys607Glu)
c.4963A>G (p.Lys1655Glu)
c.5080A>G (p.Lys1694Glu)
c.4966A>G (p.Lys1656Glu)
c.5029A>G (p.Lys1677Glu)
c.5077A>G (p.Lys1693Glu)
c.5059A>G (p.Lys1687Glu)
c.4987A>G (p.Lys1663Glu)
c.5014A>G (p.Lys1672Glu)
c.5017A>G (p.Lys1673Glu)
c.5056A>G (p.Lys1686Glu)
c.5026A>G (p.Lys1676Glu)
n.1848A>G
c.4921A>G (p.Lys1641Glu)
c.4984A>G (p.Lys1662Glu)
c.4924A>G (p.Lys1642Glu)
c.5122A>G (p.Lys1708Glu)
c.5119A>G (p.Lys1707Glu)
n.5280A>G
 dbSNP
2g.71664344A>TCA347220366DYSFc.2494A>T (p.Lys832Ter)
c.1711A>T (p.Lys571Ter)
c.1819A>T (p.Lys607Ter)
c.4963A>T (p.Lys1655Ter)
c.5080A>T (p.Lys1694Ter)
c.4966A>T (p.Lys1656Ter)
c.5029A>T (p.Lys1677Ter)
c.5077A>T (p.Lys1693Ter)
c.5059A>T (p.Lys1687Ter)
c.4987A>T (p.Lys1663Ter)
c.5014A>T (p.Lys1672Ter)
c.5017A>T (p.Lys1673Ter)
c.5056A>T (p.Lys1686Ter)
c.5026A>T (p.Lys1676Ter)
n.1848A>T
c.4921A>T (p.Lys1641Ter)
c.4984A>T (p.Lys1662Ter)
c.4924A>T (p.Lys1642Ter)
c.5122A>T (p.Lys1708Ter)
c.5119A>T (p.Lys1707Ter)
n.5280A>T
2g.71664345A>CCA347220368DYSFc.2495A>C (p.Lys832Thr)
c.1712A>C (p.Lys571Thr)
c.1820A>C (p.Lys607Thr)
c.4964A>C (p.Lys1655Thr)
c.5081A>C (p.Lys1694Thr)
c.4967A>C (p.Lys1656Thr)
c.5030A>C (p.Lys1677Thr)
c.5078A>C (p.Lys1693Thr)
c.5060A>C (p.Lys1687Thr)
c.4988A>C (p.Lys1663Thr)
c.5015A>C (p.Lys1672Thr)
c.5018A>C (p.Lys1673Thr)
c.5057A>C (p.Lys1686Thr)
c.5027A>C (p.Lys1676Thr)
n.1849A>C
c.4922A>C (p.Lys1641Thr)
c.4985A>C (p.Lys1662Thr)
c.4925A>C (p.Lys1642Thr)
c.5123A>C (p.Lys1708Thr)
c.5120A>C (p.Lys1707Thr)
n.5281A>C
2g.71664345A>GCA347220370DYSFc.2495A>G (p.Lys832Arg)
c.1712A>G (p.Lys571Arg)
c.1820A>G (p.Lys607Arg)
c.4964A>G (p.Lys1655Arg)
c.5081A>G (p.Lys1694Arg)
c.4967A>G (p.Lys1656Arg)
c.5030A>G (p.Lys1677Arg)
c.5078A>G (p.Lys1693Arg)
c.5060A>G (p.Lys1687Arg)
c.4988A>G (p.Lys1663Arg)
c.5015A>G (p.Lys1672Arg)
c.5018A>G (p.Lys1673Arg)
c.5057A>G (p.Lys1686Arg)
c.5027A>G (p.Lys1676Arg)
n.1849A>G
c.4922A>G (p.Lys1641Arg)
c.4985A>G (p.Lys1662Arg)
c.4925A>G (p.Lys1642Arg)
c.5123A>G (p.Lys1708Arg)
c.5120A>G (p.Lys1707Arg)
n.5281A>G
2g.71664345A>TCA347220371DYSFc.2495A>T (p.Lys832Met)
c.1712A>T (p.Lys571Met)
c.1820A>T (p.Lys607Met)
c.4964A>T (p.Lys1655Met)
c.5081A>T (p.Lys1694Met)
c.4967A>T (p.Lys1656Met)
c.5030A>T (p.Lys1677Met)
c.5078A>T (p.Lys1693Met)
c.5060A>T (p.Lys1687Met)
c.4988A>T (p.Lys1663Met)
c.5015A>T (p.Lys1672Met)
c.5018A>T (p.Lys1673Met)
c.5057A>T (p.Lys1686Met)
c.5027A>T (p.Lys1676Met)
n.1849A>T
c.4922A>T (p.Lys1641Met)
c.4985A>T (p.Lys1662Met)
c.4925A>T (p.Lys1642Met)
c.5123A>T (p.Lys1708Met)
c.5120A>T (p.Lys1707Met)
n.5281A>T
2g.71664346G>ACA426703945DYSFc.2496G>A (p.Lys832=)
c.1713G>A (p.Lys571=)
c.1821G>A (p.Lys607=)
c.4965G>A (p.Lys1655=)
c.5082G>A (p.Lys1694=)
c.4968G>A (p.Lys1656=)
c.5031G>A (p.Lys1677=)
c.5079G>A (p.Lys1693=)
c.5061G>A (p.Lys1687=)
c.4989G>A (p.Lys1663=)
c.5016G>A (p.Lys1672=)
c.5019G>A (p.Lys1673=)
c.5058G>A (p.Lys1686=)
c.5028G>A (p.Lys1676=)
n.1850G>A
c.4923G>A (p.Lys1641=)
c.4986G>A (p.Lys1662=)
c.4926G>A (p.Lys1642=)
c.5124G>A (p.Lys1708=)
c.5121G>A (p.Lys1707=)
n.5282G>A
2g.71664346G>CCA347220372DYSFc.2496G>C (p.Lys832Asn)
c.1713G>C (p.Lys571Asn)
c.1821G>C (p.Lys607Asn)
c.4965G>C (p.Lys1655Asn)
c.5082G>C (p.Lys1694Asn)
c.4968G>C (p.Lys1656Asn)
c.5031G>C (p.Lys1677Asn)
c.5079G>C (p.Lys1693Asn)
c.5061G>C (p.Lys1687Asn)
c.4989G>C (p.Lys1663Asn)
c.5016G>C (p.Lys1672Asn)
c.5019G>C (p.Lys1673Asn)
c.5058G>C (p.Lys1686Asn)
c.5028G>C (p.Lys1676Asn)
n.1850G>C
c.4923G>C (p.Lys1641Asn)
c.4986G>C (p.Lys1662Asn)
c.4926G>C (p.Lys1642Asn)
c.5124G>C (p.Lys1708Asn)
c.5121G>C (p.Lys1707Asn)
n.5282G>C
2g.71664346G>TCA347220374DYSFc.2496G>T (p.Lys832Asn)
c.1713G>T (p.Lys571Asn)
c.1821G>T (p.Lys607Asn)
c.4965G>T (p.Lys1655Asn)
c.5082G>T (p.Lys1694Asn)
c.4968G>T (p.Lys1656Asn)
c.5031G>T (p.Lys1677Asn)
c.5079G>T (p.Lys1693Asn)
c.5061G>T (p.Lys1687Asn)
c.4989G>T (p.Lys1663Asn)
c.5016G>T (p.Lys1672Asn)
c.5019G>T (p.Lys1673Asn)
c.5058G>T (p.Lys1686Asn)
c.5028G>T (p.Lys1676Asn)
n.1850G>T
c.4923G>T (p.Lys1641Asn)
c.4986G>T (p.Lys1662Asn)
c.4926G>T (p.Lys1642Asn)
c.5124G>T (p.Lys1708Asn)
c.5121G>T (p.Lys1707Asn)
n.5282G>T
2g.71664347G>ACA347220375DYSFc.2497G>A (p.Asp833Asn)
c.1714G>A (p.Asp572Asn)
c.1822G>A (p.Asp608Asn)
c.4966G>A (p.Asp1656Asn)
c.5083G>A (p.Asp1695Asn)
c.4969G>A (p.Asp1657Asn)
c.5032G>A (p.Asp1678Asn)
c.5080G>A (p.Asp1694Asn)
c.5062G>A (p.Asp1688Asn)
c.4990G>A (p.Asp1664Asn)
c.5017G>A (p.Asp1673Asn)
c.5020G>A (p.Asp1674Asn)
c.5059G>A (p.Asp1687Asn)
c.5029G>A (p.Asp1677Asn)
n.1851G>A
c.4924G>A (p.Asp1642Asn)
c.4987G>A (p.Asp1663Asn)
c.4927G>A (p.Asp1643Asn)
c.5125G>A (p.Asp1709Asn)
c.5122G>A (p.Asp1708Asn)
n.5283G>A
 COSMIC COSMIC
2g.71664347G>CCA347220377DYSFc.2497G>C (p.Asp833His)
c.1714G>C (p.Asp572His)
c.1822G>C (p.Asp608His)
c.4966G>C (p.Asp1656His)
c.5083G>C (p.Asp1695His)
c.4969G>C (p.Asp1657His)
c.5032G>C (p.Asp1678His)
c.5080G>C (p.Asp1694His)
c.5062G>C (p.Asp1688His)
c.4990G>C (p.Asp1664His)
c.5017G>C (p.Asp1673His)
c.5020G>C (p.Asp1674His)
c.5059G>C (p.Asp1687His)
c.5029G>C (p.Asp1677His)
n.1851G>C
c.4924G>C (p.Asp1642His)
c.4987G>C (p.Asp1663His)
c.4927G>C (p.Asp1643His)
c.5125G>C (p.Asp1709His)
c.5122G>C (p.Asp1708His)
n.5283G>C
2g.71664347G>TCA347220379DYSFc.2497G>T (p.Asp833Tyr)
c.1714G>T (p.Asp572Tyr)
c.1822G>T (p.Asp608Tyr)
c.4966G>T (p.Asp1656Tyr)
c.5083G>T (p.Asp1695Tyr)
c.4969G>T (p.Asp1657Tyr)
c.5032G>T (p.Asp1678Tyr)
c.5080G>T (p.Asp1694Tyr)
c.5062G>T (p.Asp1688Tyr)
c.4990G>T (p.Asp1664Tyr)
c.5017G>T (p.Asp1673Tyr)
c.5020G>T (p.Asp1674Tyr)
c.5059G>T (p.Asp1687Tyr)
c.5029G>T (p.Asp1677Tyr)
n.1851G>T
c.4924G>T (p.Asp1642Tyr)
c.4987G>T (p.Asp1663Tyr)
c.4927G>T (p.Asp1643Tyr)
c.5125G>T (p.Asp1709Tyr)
c.5122G>T (p.Asp1708Tyr)
n.5283G>T
2g.71664348A>CCA347220382DYSFc.2498A>C (p.Asp833Ala)
c.1715A>C (p.Asp572Ala)
c.1823A>C (p.Asp608Ala)
c.4967A>C (p.Asp1656Ala)
c.5084A>C (p.Asp1695Ala)
c.4970A>C (p.Asp1657Ala)
c.5033A>C (p.Asp1678Ala)
c.5081A>C (p.Asp1694Ala)
c.5063A>C (p.Asp1688Ala)
c.4991A>C (p.Asp1664Ala)
c.5018A>C (p.Asp1673Ala)
c.5021A>C (p.Asp1674Ala)
c.5060A>C (p.Asp1687Ala)
c.5030A>C (p.Asp1677Ala)
n.1852A>C
c.4925A>C (p.Asp1642Ala)
c.4988A>C (p.Asp1663Ala)
c.4928A>C (p.Asp1643Ala)
c.5126A>C (p.Asp1709Ala)
c.5123A>C (p.Asp1708Ala)
n.5284A>C
2g.71664348A>GCA347220384DYSFc.2498A>G (p.Asp833Gly)
c.1715A>G (p.Asp572Gly)
c.1823A>G (p.Asp608Gly)
c.4967A>G (p.Asp1656Gly)
c.5084A>G (p.Asp1695Gly)
c.4970A>G (p.Asp1657Gly)
c.5033A>G (p.Asp1678Gly)
c.5081A>G (p.Asp1694Gly)
c.5063A>G (p.Asp1688Gly)
c.4991A>G (p.Asp1664Gly)
c.5018A>G (p.Asp1673Gly)
c.5021A>G (p.Asp1674Gly)
c.5060A>G (p.Asp1687Gly)
c.5030A>G (p.Asp1677Gly)
n.1852A>G
c.4925A>G (p.Asp1642Gly)
c.4988A>G (p.Asp1663Gly)
c.4928A>G (p.Asp1643Gly)
c.5126A>G (p.Asp1709Gly)
c.5123A>G (p.Asp1708Gly)
n.5284A>G
2g.71664348A>TCA347220381DYSFc.2498A>T (p.Asp833Val)
c.1715A>T (p.Asp572Val)
c.1823A>T (p.Asp608Val)
c.4967A>T (p.Asp1656Val)
c.5084A>T (p.Asp1695Val)
c.4970A>T (p.Asp1657Val)
c.5033A>T (p.Asp1678Val)
c.5081A>T (p.Asp1694Val)
c.5063A>T (p.Asp1688Val)
c.4991A>T (p.Asp1664Val)
c.5018A>T (p.Asp1673Val)
c.5021A>T (p.Asp1674Val)
c.5060A>T (p.Asp1687Val)
c.5030A>T (p.Asp1677Val)
n.1852A>T
c.4925A>T (p.Asp1642Val)
c.4988A>T (p.Asp1663Val)
c.4928A>T (p.Asp1643Val)
c.5126A>T (p.Asp1709Val)
c.5123A>T (p.Asp1708Val)
n.5284A>T
2g.71664349_71664353dupCA2518953351DYSFc.2499_2503dup (p.Lys835ThrfsTer?)
c.1716_1720dup (p.Lys574ThrfsTer?)
c.1824_1828dup (p.Lys610ThrfsTer?)
c.4968_4972dup (p.Lys1658ThrfsTer?)
c.5085_5089dup (p.Lys1697ThrfsTer?)
c.4971_4975dup (p.Lys1659ThrfsTer?)
c.5034_5038dup (p.Lys1680ThrfsTer?)
c.5082_5086dup (p.Lys1696ThrfsTer?)
c.5064_5068dup (p.Lys1690ThrfsTer?)
c.4992_4996dup (p.Lys1666ThrfsTer?)
c.5019_5023dup (p.Lys1675ThrfsTer?)
c.5022_5026dup (p.Lys1676ThrfsTer?)
c.5061_5065dup (p.Lys1689ThrfsTer?)
c.5031_5035dup (p.Lys1679ThrfsTer?)
n.1853_1857dup
c.4926_4930dup (p.Lys1644ThrfsTer?)
c.4989_4993dup (p.Lys1665ThrfsTer?)
c.4929_4933dup (p.Lys1645ThrfsTer?)
c.5127_5131dup (p.Lys1711ThrfsTer?)
c.5124_5128dup (p.Lys1710ThrfsTer?)
n.5285_5289dup
 ClinVar dbSNP gnomAD v4
2g.71664349C>ACA347220386DYSFc.2499C>A (p.Asp833Glu)
c.1716C>A (p.Asp572Glu)
c.1824C>A (p.Asp608Glu)
c.4968C>A (p.Asp1656Glu)
c.5085C>A (p.Asp1695Glu)
c.4971C>A (p.Asp1657Glu)
c.5034C>A (p.Asp1678Glu)
c.5082C>A (p.Asp1694Glu)
c.5064C>A (p.Asp1688Glu)
c.4992C>A (p.Asp1664Glu)
c.5019C>A (p.Asp1673Glu)
c.5022C>A (p.Asp1674Glu)
c.5061C>A (p.Asp1687Glu)
c.5031C>A (p.Asp1677Glu)
n.1853C>A
c.4926C>A (p.Asp1642Glu)
c.4989C>A (p.Asp1663Glu)
c.4929C>A (p.Asp1643Glu)
c.5127C>A (p.Asp1709Glu)
c.5124C>A (p.Asp1708Glu)
n.5285C>A
 dbSNP
2g.71664349C=CA1260149763DYSFc.2499C= (p.Asp833=)
c.1716C= (p.Asp572=)
c.1824C= (p.Asp608=)
c.4968C= (p.Asp1656=)
c.5085C= (p.Asp1695=)
c.4971C= (p.Asp1657=)
c.5034C= (p.Asp1678=)
c.5082C= (p.Asp1694=)
c.5064C= (p.Asp1688=)
c.4992C= (p.Asp1664=)
c.5019C= (p.Asp1673=)
c.5022C= (p.Asp1674=)
c.5061C= (p.Asp1687=)
c.5031C= (p.Asp1677=)
n.1853C=
c.4926C= (p.Asp1642=)
c.4989C= (p.Asp1663=)
c.4929C= (p.Asp1643=)
c.5127C= (p.Asp1709=)
c.5124C= (p.Asp1708=)
n.5285C=
2g.71664349C>GCA347220388DYSFc.2499C>G (p.Asp833Glu)
c.1716C>G (p.Asp572Glu)
c.1824C>G (p.Asp608Glu)
c.4968C>G (p.Asp1656Glu)
c.5085C>G (p.Asp1695Glu)
c.4971C>G (p.Asp1657Glu)
c.5034C>G (p.Asp1678Glu)
c.5082C>G (p.Asp1694Glu)
c.5064C>G (p.Asp1688Glu)
c.4992C>G (p.Asp1664Glu)
c.5019C>G (p.Asp1673Glu)
c.5022C>G (p.Asp1674Glu)
c.5061C>G (p.Asp1687Glu)
c.5031C>G (p.Asp1677Glu)
n.1853C>G
c.4926C>G (p.Asp1642Glu)
c.4989C>G (p.Asp1663Glu)
c.4929C>G (p.Asp1643Glu)
c.5127C>G (p.Asp1709Glu)
c.5124C>G (p.Asp1708Glu)
n.5285C>G
 dbSNP gnomAD v3 gnomAD v4
2g.71664349C>TCA1707237DYSFc.2499C>T (p.Asp833=)
c.1716C>T (p.Asp572=)
c.1824C>T (p.Asp608=)
c.4968C>T (p.Asp1656=)
c.5085C>T (p.Asp1695=)
c.4971C>T (p.Asp1657=)
c.5034C>T (p.Asp1678=)
c.5082C>T (p.Asp1694=)
c.5064C>T (p.Asp1688=)
c.4992C>T (p.Asp1664=)
c.5019C>T (p.Asp1673=)
c.5022C>T (p.Asp1674=)
c.5061C>T (p.Asp1687=)
c.5031C>T (p.Asp1677=)
n.1853C>T
c.4926C>T (p.Asp1642=)
c.4989C>T (p.Asp1663=)
c.4929C>T (p.Asp1643=)
c.5127C>T (p.Asp1709=)
c.5124C>T (p.Asp1708=)
n.5285C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71664350G>ACA1707238DYSFc.2500G>A (p.Glu834Lys)
c.1717G>A (p.Glu573Lys)
c.1825G>A (p.Glu609Lys)
c.4969G>A (p.Glu1657Lys)
c.5086G>A (p.Glu1696Lys)
c.4972G>A (p.Glu1658Lys)
c.5035G>A (p.Glu1679Lys)
c.5083G>A (p.Glu1695Lys)
c.5065G>A (p.Glu1689Lys)
c.4993G>A (p.Glu1665Lys)
c.5020G>A (p.Glu1674Lys)
c.5023G>A (p.Glu1675Lys)
c.5062G>A (p.Glu1688Lys)
c.5032G>A (p.Glu1678Lys)
n.1854G>A
c.4927G>A (p.Glu1643Lys)
c.4990G>A (p.Glu1664Lys)
c.4930G>A (p.Glu1644Lys)
c.5128G>A (p.Glu1710Lys)
c.5125G>A (p.Glu1709Lys)
n.5286G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664350G>CCA1707239DYSFc.2500G>C (p.Glu834Gln)
c.1717G>C (p.Glu573Gln)
c.1825G>C (p.Glu609Gln)
c.4969G>C (p.Glu1657Gln)
c.5086G>C (p.Glu1696Gln)
c.4972G>C (p.Glu1658Gln)
c.5035G>C (p.Glu1679Gln)
c.5083G>C (p.Glu1695Gln)
c.5065G>C (p.Glu1689Gln)
c.4993G>C (p.Glu1665Gln)
c.5020G>C (p.Glu1674Gln)
c.5023G>C (p.Glu1675Gln)
c.5062G>C (p.Glu1688Gln)
c.5032G>C (p.Glu1678Gln)
n.1854G>C
c.4927G>C (p.Glu1643Gln)
c.4990G>C (p.Glu1664Gln)
c.4930G>C (p.Glu1644Gln)
c.5128G>C (p.Glu1710Gln)
c.5125G>C (p.Glu1709Gln)
n.5286G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664350G=CA1260149764DYSFc.2500G= (p.Glu834=)
c.1717G= (p.Glu573=)
c.1825G= (p.Glu609=)
c.4969G= (p.Glu1657=)
c.5086G= (p.Glu1696=)
c.4972G= (p.Glu1658=)
c.5035G= (p.Glu1679=)
c.5083G= (p.Glu1695=)
c.5065G= (p.Glu1689=)
c.4993G= (p.Glu1665=)
c.5020G= (p.Glu1674=)
c.5023G= (p.Glu1675=)
c.5062G= (p.Glu1688=)
c.5032G= (p.Glu1678=)
n.1854G=
c.4927G= (p.Glu1643=)
c.4990G= (p.Glu1664=)
c.4930G= (p.Glu1644=)
c.5128G= (p.Glu1710=)
c.5125G= (p.Glu1709=)
n.5286G=
2g.71664350G>TCA347220391DYSFc.2500G>T (p.Glu834Ter)
c.1717G>T (p.Glu573Ter)
c.1825G>T (p.Glu609Ter)
c.4969G>T (p.Glu1657Ter)
c.5086G>T (p.Glu1696Ter)
c.4972G>T (p.Glu1658Ter)
c.5035G>T (p.Glu1679Ter)
c.5083G>T (p.Glu1695Ter)
c.5065G>T (p.Glu1689Ter)
c.4993G>T (p.Glu1665Ter)
c.5020G>T (p.Glu1674Ter)
c.5023G>T (p.Glu1675Ter)
c.5062G>T (p.Glu1688Ter)
c.5032G>T (p.Glu1678Ter)
n.1854G>T
c.4927G>T (p.Glu1643Ter)
c.4990G>T (p.Glu1664Ter)
c.4930G>T (p.Glu1644Ter)
c.5128G>T (p.Glu1710Ter)
c.5125G>T (p.Glu1709Ter)
n.5286G>T
 ClinVar dbSNP COSMIC
2g.71664351A>CCA347220392DYSFc.2501A>C (p.Glu834Ala)
c.1718A>C (p.Glu573Ala)
c.1826A>C (p.Glu609Ala)
c.4970A>C (p.Glu1657Ala)
c.5087A>C (p.Glu1696Ala)
c.4973A>C (p.Glu1658Ala)
c.5036A>C (p.Glu1679Ala)
c.5084A>C (p.Glu1695Ala)
c.5066A>C (p.Glu1689Ala)
c.4994A>C (p.Glu1665Ala)
c.5021A>C (p.Glu1674Ala)
c.5024A>C (p.Glu1675Ala)
c.5063A>C (p.Glu1688Ala)
c.5033A>C (p.Glu1678Ala)
n.1855A>C
c.4928A>C (p.Glu1643Ala)
c.4991A>C (p.Glu1664Ala)
c.4931A>C (p.Glu1644Ala)
c.5129A>C (p.Glu1710Ala)
c.5126A>C (p.Glu1709Ala)
n.5287A>C
2g.71664351A>GCA347220396DYSFc.2501A>G (p.Glu834Gly)
c.1718A>G (p.Glu573Gly)
c.1826A>G (p.Glu609Gly)
c.4970A>G (p.Glu1657Gly)
c.5087A>G (p.Glu1696Gly)
c.4973A>G (p.Glu1658Gly)
c.5036A>G (p.Glu1679Gly)
c.5084A>G (p.Glu1695Gly)
c.5066A>G (p.Glu1689Gly)
c.4994A>G (p.Glu1665Gly)
c.5021A>G (p.Glu1674Gly)
c.5024A>G (p.Glu1675Gly)
c.5063A>G (p.Glu1688Gly)
c.5033A>G (p.Glu1678Gly)
n.1855A>G
c.4928A>G (p.Glu1643Gly)
c.4991A>G (p.Glu1664Gly)
c.4931A>G (p.Glu1644Gly)
c.5129A>G (p.Glu1710Gly)
c.5126A>G (p.Glu1709Gly)
n.5287A>G
2g.71664351A>TCA347220394DYSFc.2501A>T (p.Glu834Val)
c.1718A>T (p.Glu573Val)
c.1826A>T (p.Glu609Val)
c.4970A>T (p.Glu1657Val)
c.5087A>T (p.Glu1696Val)
c.4973A>T (p.Glu1658Val)
c.5036A>T (p.Glu1679Val)
c.5084A>T (p.Glu1695Val)
c.5066A>T (p.Glu1689Val)
c.4994A>T (p.Glu1665Val)
c.5021A>T (p.Glu1674Val)
c.5024A>T (p.Glu1675Val)
c.5063A>T (p.Glu1688Val)
c.5033A>T (p.Glu1678Val)
n.1855A>T
c.4928A>T (p.Glu1643Val)
c.4991A>T (p.Glu1664Val)
c.4931A>T (p.Glu1644Val)
c.5129A>T (p.Glu1710Val)
c.5126A>T (p.Glu1709Val)
n.5287A>T
2g.71664354delCA2573052015DYSFc.2504del (p.Lys835ArgfsTer?)
c.1721del (p.Lys574ArgfsTer?)
c.1829del (p.Lys610ArgfsTer?)
c.4973del (p.Lys1658ArgfsTer?)
c.5090del (p.Lys1697ArgfsTer?)
c.4976del (p.Lys1659ArgfsTer?)
c.5039del (p.Lys1680ArgfsTer?)
c.5087del (p.Lys1696ArgfsTer?)
c.5069del (p.Lys1690ArgfsTer?)
c.4997del (p.Lys1666ArgfsTer?)
c.5024del (p.Lys1675ArgfsTer?)
c.5027del (p.Lys1676ArgfsTer?)
c.5066del (p.Lys1689ArgfsTer?)
c.5036del (p.Lys1679ArgfsTer?)
n.1858del
c.4931del (p.Lys1644ArgfsTer?)
c.4994del (p.Lys1665ArgfsTer?)
c.4934del (p.Lys1645ArgfsTer?)
c.5132del (p.Lys1711ArgfsTer?)
c.5129del (p.Lys1710ArgfsTer?)
n.5290del
 dbSNP
2g.71664352A>CCA347220398DYSFc.2502A>C (p.Glu834Asp)
c.1719A>C (p.Glu573Asp)
c.1827A>C (p.Glu609Asp)
c.4971A>C (p.Glu1657Asp)
c.5088A>C (p.Glu1696Asp)
c.4974A>C (p.Glu1658Asp)
c.5037A>C (p.Glu1679Asp)
c.5085A>C (p.Glu1695Asp)
c.5067A>C (p.Glu1689Asp)
c.4995A>C (p.Glu1665Asp)
c.5022A>C (p.Glu1674Asp)
c.5025A>C (p.Glu1675Asp)
c.5064A>C (p.Glu1688Asp)
c.5034A>C (p.Glu1678Asp)
n.1856A>C
c.4929A>C (p.Glu1643Asp)
c.4992A>C (p.Glu1664Asp)
c.4932A>C (p.Glu1644Asp)
c.5130A>C (p.Glu1710Asp)
c.5127A>C (p.Glu1709Asp)
n.5288A>C
2g.71664352A>GCA426703946DYSFc.2502A>G (p.Glu834=)
c.1719A>G (p.Glu573=)
c.1827A>G (p.Glu609=)
c.4971A>G (p.Glu1657=)
c.5088A>G (p.Glu1696=)
c.4974A>G (p.Glu1658=)
c.5037A>G (p.Glu1679=)
c.5085A>G (p.Glu1695=)
c.5067A>G (p.Glu1689=)
c.4995A>G (p.Glu1665=)
c.5022A>G (p.Glu1674=)
c.5025A>G (p.Glu1675=)
c.5064A>G (p.Glu1688=)
c.5034A>G (p.Glu1678=)
n.1856A>G
c.4929A>G (p.Glu1643=)
c.4992A>G (p.Glu1664=)
c.4932A>G (p.Glu1644=)
c.5130A>G (p.Glu1710=)
c.5127A>G (p.Glu1709=)
n.5288A>G
 gnomAD v4
2g.71664352A>TCA347220399DYSFc.2502A>T (p.Glu834Asp)
c.1719A>T (p.Glu573Asp)
c.1827A>T (p.Glu609Asp)
c.4971A>T (p.Glu1657Asp)
c.5088A>T (p.Glu1696Asp)
c.4974A>T (p.Glu1658Asp)
c.5037A>T (p.Glu1679Asp)
c.5085A>T (p.Glu1695Asp)
c.5067A>T (p.Glu1689Asp)
c.4995A>T (p.Glu1665Asp)
c.5022A>T (p.Glu1674Asp)
c.5025A>T (p.Glu1675Asp)
c.5064A>T (p.Glu1688Asp)
c.5034A>T (p.Glu1678Asp)
n.1856A>T
c.4929A>T (p.Glu1643Asp)
c.4992A>T (p.Glu1664Asp)
c.4932A>T (p.Glu1644Asp)
c.5130A>T (p.Glu1710Asp)
c.5127A>T (p.Glu1709Asp)
n.5288A>T
2g.71664353A=CA1260149765DYSFc.2503A= (p.Lys835=)
c.1720A= (p.Lys574=)
c.1828A= (p.Lys610=)
c.4972A= (p.Lys1658=)
c.5089A= (p.Lys1697=)
c.4975A= (p.Lys1659=)
c.5038A= (p.Lys1680=)
c.5086A= (p.Lys1696=)
c.5068A= (p.Lys1690=)
c.4996A= (p.Lys1666=)
c.5023A= (p.Lys1675=)
c.5026A= (p.Lys1676=)
c.5065A= (p.Lys1689=)
c.5035A= (p.Lys1679=)
n.1857A=
c.4930A= (p.Lys1644=)
c.4993A= (p.Lys1665=)
c.4933A= (p.Lys1645=)
c.5131A= (p.Lys1711=)
c.5128A= (p.Lys1710=)
n.5289A=
2g.71664353A>CCA347220401DYSFc.2503A>C (p.Lys835Gln)
c.1720A>C (p.Lys574Gln)
c.1828A>C (p.Lys610Gln)
c.4972A>C (p.Lys1658Gln)
c.5089A>C (p.Lys1697Gln)
c.4975A>C (p.Lys1659Gln)
c.5038A>C (p.Lys1680Gln)
c.5086A>C (p.Lys1696Gln)
c.5068A>C (p.Lys1690Gln)
c.4996A>C (p.Lys1666Gln)
c.5023A>C (p.Lys1675Gln)
c.5026A>C (p.Lys1676Gln)
c.5065A>C (p.Lys1689Gln)
c.5035A>C (p.Lys1679Gln)
n.1857A>C
c.4930A>C (p.Lys1644Gln)
c.4993A>C (p.Lys1665Gln)
c.4933A>C (p.Lys1645Gln)
c.5131A>C (p.Lys1711Gln)
c.5128A>C (p.Lys1710Gln)
n.5289A>C
2g.71664353A>GCA49766957DYSFc.2503A>G (p.Lys835Glu)
c.1720A>G (p.Lys574Glu)
c.1828A>G (p.Lys610Glu)
c.4972A>G (p.Lys1658Glu)
c.5089A>G (p.Lys1697Glu)
c.4975A>G (p.Lys1659Glu)
c.5038A>G (p.Lys1680Glu)
c.5086A>G (p.Lys1696Glu)
c.5068A>G (p.Lys1690Glu)
c.4996A>G (p.Lys1666Glu)
c.5023A>G (p.Lys1675Glu)
c.5026A>G (p.Lys1676Glu)
c.5065A>G (p.Lys1689Glu)
c.5035A>G (p.Lys1679Glu)
n.1857A>G
c.4930A>G (p.Lys1644Glu)
c.4993A>G (p.Lys1665Glu)
c.4933A>G (p.Lys1645Glu)
c.5131A>G (p.Lys1711Glu)
c.5128A>G (p.Lys1710Glu)
n.5289A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71664353A>TCA347220402DYSFc.2503A>T (p.Lys835Ter)
c.1720A>T (p.Lys574Ter)
c.1828A>T (p.Lys610Ter)
c.4972A>T (p.Lys1658Ter)
c.5089A>T (p.Lys1697Ter)
c.4975A>T (p.Lys1659Ter)
c.5038A>T (p.Lys1680Ter)
c.5086A>T (p.Lys1696Ter)
c.5068A>T (p.Lys1690Ter)
c.4996A>T (p.Lys1666Ter)
c.5023A>T (p.Lys1675Ter)
c.5026A>T (p.Lys1676Ter)
c.5065A>T (p.Lys1689Ter)
c.5035A>T (p.Lys1679Ter)
n.1857A>T
c.4930A>T (p.Lys1644Ter)
c.4993A>T (p.Lys1665Ter)
c.4933A>T (p.Lys1645Ter)
c.5131A>T (p.Lys1711Ter)
c.5128A>T (p.Lys1710Ter)
n.5289A>T
2g.71664354A>CCA347220404DYSFc.2504A>C (p.Lys835Thr)
c.1721A>C (p.Lys574Thr)
c.1829A>C (p.Lys610Thr)
c.4973A>C (p.Lys1658Thr)
c.5090A>C (p.Lys1697Thr)
c.4976A>C (p.Lys1659Thr)
c.5039A>C (p.Lys1680Thr)
c.5087A>C (p.Lys1696Thr)
c.5069A>C (p.Lys1690Thr)
c.4997A>C (p.Lys1666Thr)
c.5024A>C (p.Lys1675Thr)
c.5027A>C (p.Lys1676Thr)
c.5066A>C (p.Lys1689Thr)
c.5036A>C (p.Lys1679Thr)
n.1858A>C
c.4931A>C (p.Lys1644Thr)
c.4994A>C (p.Lys1665Thr)
c.4934A>C (p.Lys1645Thr)
c.5132A>C (p.Lys1711Thr)
c.5129A>C (p.Lys1710Thr)
n.5290A>C
2g.71664354A>GCA347220406DYSFc.2504A>G (p.Lys835Arg)
c.1721A>G (p.Lys574Arg)
c.1829A>G (p.Lys610Arg)
c.4973A>G (p.Lys1658Arg)
c.5090A>G (p.Lys1697Arg)
c.4976A>G (p.Lys1659Arg)
c.5039A>G (p.Lys1680Arg)
c.5087A>G (p.Lys1696Arg)
c.5069A>G (p.Lys1690Arg)
c.4997A>G (p.Lys1666Arg)
c.5024A>G (p.Lys1675Arg)
c.5027A>G (p.Lys1676Arg)
c.5066A>G (p.Lys1689Arg)
c.5036A>G (p.Lys1679Arg)
n.1858A>G
c.4931A>G (p.Lys1644Arg)
c.4994A>G (p.Lys1665Arg)
c.4934A>G (p.Lys1645Arg)
c.5132A>G (p.Lys1711Arg)
c.5129A>G (p.Lys1710Arg)
n.5290A>G
2g.71664354A>TCA347220407DYSFc.2504A>T (p.Lys835Met)
c.1721A>T (p.Lys574Met)
c.1829A>T (p.Lys610Met)
c.4973A>T (p.Lys1658Met)
c.5090A>T (p.Lys1697Met)
c.4976A>T (p.Lys1659Met)
c.5039A>T (p.Lys1680Met)
c.5087A>T (p.Lys1696Met)
c.5069A>T (p.Lys1690Met)
c.4997A>T (p.Lys1666Met)
c.5024A>T (p.Lys1675Met)
c.5027A>T (p.Lys1676Met)
c.5066A>T (p.Lys1689Met)
c.5036A>T (p.Lys1679Met)
n.1858A>T
c.4931A>T (p.Lys1644Met)
c.4994A>T (p.Lys1665Met)
c.4934A>T (p.Lys1645Met)
c.5132A>T (p.Lys1711Met)
c.5129A>T (p.Lys1710Met)
n.5290A>T
2g.71664355G>ACA426703947DYSFc.2505G>A (p.Lys835=)
c.1722G>A (p.Lys574=)
c.1830G>A (p.Lys610=)
c.4974G>A (p.Lys1658=)
c.5091G>A (p.Lys1697=)
c.4977G>A (p.Lys1659=)
c.5040G>A (p.Lys1680=)
c.5088G>A (p.Lys1696=)
c.5070G>A (p.Lys1690=)
c.4998G>A (p.Lys1666=)
c.5025G>A (p.Lys1675=)
c.5028G>A (p.Lys1676=)
c.5067G>A (p.Lys1689=)
c.5037G>A (p.Lys1679=)
n.1859G>A
c.4932G>A (p.Lys1644=)
c.4995G>A (p.Lys1665=)
c.4935G>A (p.Lys1645=)
c.5133G>A (p.Lys1711=)
c.5130G>A (p.Lys1710=)
n.5291G>A
2g.71664355G>CCA1707240DYSFc.2505G>C (p.Lys835Asn)
c.1722G>C (p.Lys574Asn)
c.1830G>C (p.Lys610Asn)
c.4974G>C (p.Lys1658Asn)
c.5091G>C (p.Lys1697Asn)
c.4977G>C (p.Lys1659Asn)
c.5040G>C (p.Lys1680Asn)
c.5088G>C (p.Lys1696Asn)
c.5070G>C (p.Lys1690Asn)
c.4998G>C (p.Lys1666Asn)
c.5025G>C (p.Lys1675Asn)
c.5028G>C (p.Lys1676Asn)
c.5067G>C (p.Lys1689Asn)
c.5037G>C (p.Lys1679Asn)
n.1859G>C
c.4932G>C (p.Lys1644Asn)
c.4995G>C (p.Lys1665Asn)
c.4935G>C (p.Lys1645Asn)
c.5133G>C (p.Lys1711Asn)
c.5130G>C (p.Lys1710Asn)
n.5291G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664355G=CA1260149766DYSFc.2505G= (p.Lys835=)
c.1722G= (p.Lys574=)
c.1830G= (p.Lys610=)
c.4974G= (p.Lys1658=)
c.5091G= (p.Lys1697=)
c.4977G= (p.Lys1659=)
c.5040G= (p.Lys1680=)
c.5088G= (p.Lys1696=)
c.5070G= (p.Lys1690=)
c.4998G= (p.Lys1666=)
c.5025G= (p.Lys1675=)
c.5028G= (p.Lys1676=)
c.5067G= (p.Lys1689=)
c.5037G= (p.Lys1679=)
n.1859G=
c.4932G= (p.Lys1644=)
c.4995G= (p.Lys1665=)
c.4935G= (p.Lys1645=)
c.5133G= (p.Lys1711=)
c.5130G= (p.Lys1710=)
n.5291G=
2g.71664355G>TCA347220409DYSFc.2505G>T (p.Lys835Asn)
c.1722G>T (p.Lys574Asn)
c.1830G>T (p.Lys610Asn)
c.4974G>T (p.Lys1658Asn)
c.5091G>T (p.Lys1697Asn)
c.4977G>T (p.Lys1659Asn)
c.5040G>T (p.Lys1680Asn)
c.5088G>T (p.Lys1696Asn)
c.5070G>T (p.Lys1690Asn)
c.4998G>T (p.Lys1666Asn)
c.5025G>T (p.Lys1675Asn)
c.5028G>T (p.Lys1676Asn)
c.5067G>T (p.Lys1689Asn)
c.5037G>T (p.Lys1679Asn)
n.1859G>T
c.4932G>T (p.Lys1644Asn)
c.4995G>T (p.Lys1665Asn)
c.4935G>T (p.Lys1645Asn)
c.5133G>T (p.Lys1711Asn)
c.5130G>T (p.Lys1710Asn)
n.5291G>T
2g.71664356A>CCA347220410DYSFc.2506A>C (p.Ile836Leu)
c.1723A>C (p.Ile575Leu)
c.1831A>C (p.Ile611Leu)
c.4975A>C (p.Ile1659Leu)
c.5092A>C (p.Ile1698Leu)
c.4978A>C (p.Ile1660Leu)
c.5041A>C (p.Ile1681Leu)
c.5089A>C (p.Ile1697Leu)
c.5071A>C (p.Ile1691Leu)
c.4999A>C (p.Ile1667Leu)
c.5026A>C (p.Ile1676Leu)
c.5029A>C (p.Ile1677Leu)
c.5068A>C (p.Ile1690Leu)
c.5038A>C (p.Ile1680Leu)
n.1860A>C
c.4933A>C (p.Ile1645Leu)
c.4996A>C (p.Ile1666Leu)
c.4936A>C (p.Ile1646Leu)
c.5134A>C (p.Ile1712Leu)
c.5131A>C (p.Ile1711Leu)
n.5292A>C
2g.71664356A>GCA347220412DYSFc.2506A>G (p.Ile836Val)
c.1723A>G (p.Ile575Val)
c.1831A>G (p.Ile611Val)
c.4975A>G (p.Ile1659Val)
c.5092A>G (p.Ile1698Val)
c.4978A>G (p.Ile1660Val)
c.5041A>G (p.Ile1681Val)
c.5089A>G (p.Ile1697Val)
c.5071A>G (p.Ile1691Val)
c.4999A>G (p.Ile1667Val)
c.5026A>G (p.Ile1676Val)
c.5029A>G (p.Ile1677Val)
c.5068A>G (p.Ile1690Val)
c.5038A>G (p.Ile1680Val)
n.1860A>G
c.4933A>G (p.Ile1645Val)
c.4996A>G (p.Ile1666Val)
c.4936A>G (p.Ile1646Val)
c.5134A>G (p.Ile1712Val)
c.5131A>G (p.Ile1711Val)
n.5292A>G
2g.71664356A>TCA347220414DYSFc.2506A>T (p.Ile836Phe)
c.1723A>T (p.Ile575Phe)
c.1831A>T (p.Ile611Phe)
c.4975A>T (p.Ile1659Phe)
c.5092A>T (p.Ile1698Phe)
c.4978A>T (p.Ile1660Phe)
c.5041A>T (p.Ile1681Phe)
c.5089A>T (p.Ile1697Phe)
c.5071A>T (p.Ile1691Phe)
c.4999A>T (p.Ile1667Phe)
c.5026A>T (p.Ile1676Phe)
c.5029A>T (p.Ile1677Phe)
c.5068A>T (p.Ile1690Phe)
c.5038A>T (p.Ile1680Phe)
n.1860A>T
c.4933A>T (p.Ile1645Phe)
c.4996A>T (p.Ile1666Phe)
c.4936A>T (p.Ile1646Phe)
c.5134A>T (p.Ile1712Phe)
c.5131A>T (p.Ile1711Phe)
n.5292A>T
2g.71664357T>ACA347220415DYSFc.2507T>A (p.Ile836Asn)
c.1724T>A (p.Ile575Asn)
c.1832T>A (p.Ile611Asn)
c.4976T>A (p.Ile1659Asn)
c.5093T>A (p.Ile1698Asn)
c.4979T>A (p.Ile1660Asn)
c.5042T>A (p.Ile1681Asn)
c.5090T>A (p.Ile1697Asn)
c.5072T>A (p.Ile1691Asn)
c.5000T>A (p.Ile1667Asn)
c.5027T>A (p.Ile1676Asn)
c.5030T>A (p.Ile1677Asn)
c.5069T>A (p.Ile1690Asn)
c.5039T>A (p.Ile1680Asn)
n.1861T>A
c.4934T>A (p.Ile1645Asn)
c.4997T>A (p.Ile1666Asn)
c.4937T>A (p.Ile1646Asn)
c.5135T>A (p.Ile1712Asn)
c.5132T>A (p.Ile1711Asn)
n.5293T>A
2g.71664357T>CCA347220416DYSFc.2507T>C (p.Ile836Thr)
c.1724T>C (p.Ile575Thr)
c.1832T>C (p.Ile611Thr)
c.4976T>C (p.Ile1659Thr)
c.5093T>C (p.Ile1698Thr)
c.4979T>C (p.Ile1660Thr)
c.5042T>C (p.Ile1681Thr)
c.5090T>C (p.Ile1697Thr)
c.5072T>C (p.Ile1691Thr)
c.5000T>C (p.Ile1667Thr)
c.5027T>C (p.Ile1676Thr)
c.5030T>C (p.Ile1677Thr)
c.5069T>C (p.Ile1690Thr)
c.5039T>C (p.Ile1680Thr)
n.1861T>C
c.4934T>C (p.Ile1645Thr)
c.4997T>C (p.Ile1666Thr)
c.4937T>C (p.Ile1646Thr)
c.5135T>C (p.Ile1712Thr)
c.5132T>C (p.Ile1711Thr)
n.5293T>C
 gnomAD v4
2g.71664357T>GCA347220418DYSFc.2507T>G (p.Ile836Ser)
c.1724T>G (p.Ile575Ser)
c.1832T>G (p.Ile611Ser)
c.4976T>G (p.Ile1659Ser)
c.5093T>G (p.Ile1698Ser)
c.4979T>G (p.Ile1660Ser)
c.5042T>G (p.Ile1681Ser)
c.5090T>G (p.Ile1697Ser)
c.5072T>G (p.Ile1691Ser)
c.5000T>G (p.Ile1667Ser)
c.5027T>G (p.Ile1676Ser)
c.5030T>G (p.Ile1677Ser)
c.5069T>G (p.Ile1690Ser)
c.5039T>G (p.Ile1680Ser)
n.1861T>G
c.4934T>G (p.Ile1645Ser)
c.4997T>G (p.Ile1666Ser)
c.4937T>G (p.Ile1646Ser)
c.5135T>G (p.Ile1712Ser)
c.5132T>G (p.Ile1711Ser)
n.5293T>G
2g.71664358C>ACA49766960DYSFc.2508C>A (p.Ile836=)
c.1725C>A (p.Ile575=)
c.1833C>A (p.Ile611=)
c.4977C>A (p.Ile1659=)
c.5094C>A (p.Ile1698=)
c.4980C>A (p.Ile1660=)
c.5043C>A (p.Ile1681=)
c.5091C>A (p.Ile1697=)
c.5073C>A (p.Ile1691=)
c.5001C>A (p.Ile1667=)
c.5028C>A (p.Ile1676=)
c.5031C>A (p.Ile1677=)
c.5070C>A (p.Ile1690=)
c.5040C>A (p.Ile1680=)
n.1862C>A
c.4935C>A (p.Ile1645=)
c.4998C>A (p.Ile1666=)
c.4938C>A (p.Ile1646=)
c.5136C>A (p.Ile1712=)
c.5133C>A (p.Ile1711=)
n.5294C>A
 ClinVar dbSNP gnomAD v4
2g.71664358C=CA1260149767DYSFc.2508C= (p.Ile836=)
c.1725C= (p.Ile575=)
c.1833C= (p.Ile611=)
c.4977C= (p.Ile1659=)
c.5094C= (p.Ile1698=)
c.4980C= (p.Ile1660=)
c.5043C= (p.Ile1681=)
c.5091C= (p.Ile1697=)
c.5073C= (p.Ile1691=)
c.5001C= (p.Ile1667=)
c.5028C= (p.Ile1676=)
c.5031C= (p.Ile1677=)
c.5070C= (p.Ile1690=)
c.5040C= (p.Ile1680=)
n.1862C=
c.4935C= (p.Ile1645=)
c.4998C= (p.Ile1666=)
c.4938C= (p.Ile1646=)
c.5136C= (p.Ile1712=)
c.5133C= (p.Ile1711=)
n.5294C=
2g.71664358C>GCA347220420DYSFc.2508C>G (p.Ile836Met)
c.1725C>G (p.Ile575Met)
c.1833C>G (p.Ile611Met)
c.4977C>G (p.Ile1659Met)
c.5094C>G (p.Ile1698Met)
c.4980C>G (p.Ile1660Met)
c.5043C>G (p.Ile1681Met)
c.5091C>G (p.Ile1697Met)
c.5073C>G (p.Ile1691Met)
c.5001C>G (p.Ile1667Met)
c.5028C>G (p.Ile1676Met)
c.5031C>G (p.Ile1677Met)
c.5070C>G (p.Ile1690Met)
c.5040C>G (p.Ile1680Met)
n.1862C>G
c.4935C>G (p.Ile1645Met)
c.4998C>G (p.Ile1666Met)
c.4938C>G (p.Ile1646Met)
c.5136C>G (p.Ile1712Met)
c.5133C>G (p.Ile1711Met)
n.5294C>G
 gnomAD v4
2g.71664358C>TCA1707241DYSFc.2508C>T (p.Ile836=)
c.1725C>T (p.Ile575=)
c.1833C>T (p.Ile611=)
c.4977C>T (p.Ile1659=)
c.5094C>T (p.Ile1698=)
c.4980C>T (p.Ile1660=)
c.5043C>T (p.Ile1681=)
c.5091C>T (p.Ile1697=)
c.5073C>T (p.Ile1691=)
c.5001C>T (p.Ile1667=)
c.5028C>T (p.Ile1676=)
c.5031C>T (p.Ile1677=)
c.5070C>T (p.Ile1690=)
c.5040C>T (p.Ile1680=)
n.1862C>T
c.4935C>T (p.Ile1645=)
c.4998C>T (p.Ile1666=)
c.4938C>T (p.Ile1646=)
c.5136C>T (p.Ile1712=)
c.5133C>T (p.Ile1711=)
n.5294C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71664359G>ACA1707243DYSFc.2509G>A (p.Gly837Ser)
c.1726G>A (p.Gly576Ser)
c.1834G>A (p.Gly612Ser)
c.4978G>A (p.Gly1660Ser)
c.5095G>A (p.Gly1699Ser)
c.4981G>A (p.Gly1661Ser)
c.5044G>A (p.Gly1682Ser)
c.5092G>A (p.Gly1698Ser)
c.5074G>A (p.Gly1692Ser)
c.5002G>A (p.Gly1668Ser)
c.5029G>A (p.Gly1677Ser)
c.5032G>A (p.Gly1678Ser)
c.5071G>A (p.Gly1691Ser)
c.5041G>A (p.Gly1681Ser)
n.1863G>A
c.4936G>A (p.Gly1646Ser)
c.4999G>A (p.Gly1667Ser)
c.4939G>A (p.Gly1647Ser)
c.5137G>A (p.Gly1713Ser)
c.5134G>A (p.Gly1712Ser)
n.5295G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664359G>CCA347220422DYSFc.2509G>C (p.Gly837Arg)
c.1726G>C (p.Gly576Arg)
c.1834G>C (p.Gly612Arg)
c.4978G>C (p.Gly1660Arg)
c.5095G>C (p.Gly1699Arg)
c.4981G>C (p.Gly1661Arg)
c.5044G>C (p.Gly1682Arg)
c.5092G>C (p.Gly1698Arg)
c.5074G>C (p.Gly1692Arg)
c.5002G>C (p.Gly1668Arg)
c.5029G>C (p.Gly1677Arg)
c.5032G>C (p.Gly1678Arg)
c.5071G>C (p.Gly1691Arg)
c.5041G>C (p.Gly1681Arg)
n.1863G>C
c.4936G>C (p.Gly1646Arg)
c.4999G>C (p.Gly1667Arg)
c.4939G>C (p.Gly1647Arg)
c.5137G>C (p.Gly1713Arg)
c.5134G>C (p.Gly1712Arg)
n.5295G>C
2g.71664359G=CA1260149768DYSFc.2509G= (p.Gly837=)
c.1726G= (p.Gly576=)
c.1834G= (p.Gly612=)
c.4978G= (p.Gly1660=)
c.5095G= (p.Gly1699=)
c.4981G= (p.Gly1661=)
c.5044G= (p.Gly1682=)
c.5092G= (p.Gly1698=)
c.5074G= (p.Gly1692=)
c.5002G= (p.Gly1668=)
c.5029G= (p.Gly1677=)
c.5032G= (p.Gly1678=)
c.5071G= (p.Gly1691=)
c.5041G= (p.Gly1681=)
n.1863G=
c.4936G= (p.Gly1646=)
c.4999G= (p.Gly1667=)
c.4939G= (p.Gly1647=)
c.5137G= (p.Gly1713=)
c.5134G= (p.Gly1712=)
n.5295G=
2g.71664359G>TCA1707242DYSFc.2509G>T (p.Gly837Cys)
c.1726G>T (p.Gly576Cys)
c.1834G>T (p.Gly612Cys)
c.4978G>T (p.Gly1660Cys)
c.5095G>T (p.Gly1699Cys)
c.4981G>T (p.Gly1661Cys)
c.5044G>T (p.Gly1682Cys)
c.5092G>T (p.Gly1698Cys)
c.5074G>T (p.Gly1692Cys)
c.5002G>T (p.Gly1668Cys)
c.5029G>T (p.Gly1677Cys)
c.5032G>T (p.Gly1678Cys)
c.5071G>T (p.Gly1691Cys)
c.5041G>T (p.Gly1681Cys)
n.1863G>T
c.4936G>T (p.Gly1646Cys)
c.4999G>T (p.Gly1667Cys)
c.4939G>T (p.Gly1647Cys)
c.5137G>T (p.Gly1713Cys)
c.5134G>T (p.Gly1712Cys)
n.5295G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664360G>ACA347220424DYSFc.2510G>A (p.Gly837Asp)
c.1727G>A (p.Gly576Asp)
c.1835G>A (p.Gly612Asp)
c.4979G>A (p.Gly1660Asp)
c.5096G>A (p.Gly1699Asp)
c.4982G>A (p.Gly1661Asp)
c.5045G>A (p.Gly1682Asp)
c.5093G>A (p.Gly1698Asp)
c.5075G>A (p.Gly1692Asp)
c.5003G>A (p.Gly1668Asp)
c.5030G>A (p.Gly1677Asp)
c.5033G>A (p.Gly1678Asp)
c.5072G>A (p.Gly1691Asp)
c.5042G>A (p.Gly1681Asp)
n.1864G>A
c.4937G>A (p.Gly1646Asp)
c.5000G>A (p.Gly1667Asp)
c.4940G>A (p.Gly1647Asp)
c.5138G>A (p.Gly1713Asp)
c.5135G>A (p.Gly1712Asp)
n.5296G>A
 dbSNP gnomAD v4
2g.71664360G>CCA347220425DYSFc.2510G>C (p.Gly837Ala)
c.1727G>C (p.Gly576Ala)
c.1835G>C (p.Gly612Ala)
c.4979G>C (p.Gly1660Ala)
c.5096G>C (p.Gly1699Ala)
c.4982G>C (p.Gly1661Ala)
c.5045G>C (p.Gly1682Ala)
c.5093G>C (p.Gly1698Ala)
c.5075G>C (p.Gly1692Ala)
c.5003G>C (p.Gly1668Ala)
c.5030G>C (p.Gly1677Ala)
c.5033G>C (p.Gly1678Ala)
c.5072G>C (p.Gly1691Ala)
c.5042G>C (p.Gly1681Ala)
n.1864G>C
c.4937G>C (p.Gly1646Ala)
c.5000G>C (p.Gly1667Ala)
c.4940G>C (p.Gly1647Ala)
c.5138G>C (p.Gly1713Ala)
c.5135G>C (p.Gly1712Ala)
n.5296G>C
2g.71664360G=CA1260149769DYSFc.2510G= (p.Gly837=)
c.1727G= (p.Gly576=)
c.1835G= (p.Gly612=)
c.4979G= (p.Gly1660=)
c.5096G= (p.Gly1699=)
c.4982G= (p.Gly1661=)
c.5045G= (p.Gly1682=)
c.5093G= (p.Gly1698=)
c.5075G= (p.Gly1692=)
c.5003G= (p.Gly1668=)
c.5030G= (p.Gly1677=)
c.5033G= (p.Gly1678=)
c.5072G= (p.Gly1691=)
c.5042G= (p.Gly1681=)
n.1864G=
c.4937G= (p.Gly1646=)
c.5000G= (p.Gly1667=)
c.4940G= (p.Gly1647=)
c.5138G= (p.Gly1713=)
c.5135G= (p.Gly1712=)
n.5296G=
2g.71664360G>TCA347220427DYSFc.2510G>T (p.Gly837Val)
c.1727G>T (p.Gly576Val)
c.1835G>T (p.Gly612Val)
c.4979G>T (p.Gly1660Val)
c.5096G>T (p.Gly1699Val)
c.4982G>T (p.Gly1661Val)
c.5045G>T (p.Gly1682Val)
c.5093G>T (p.Gly1698Val)
c.5075G>T (p.Gly1692Val)
c.5003G>T (p.Gly1668Val)
c.5030G>T (p.Gly1677Val)
c.5033G>T (p.Gly1678Val)
c.5072G>T (p.Gly1691Val)
c.5042G>T (p.Gly1681Val)
n.1864G>T
c.4937G>T (p.Gly1646Val)
c.5000G>T (p.Gly1667Val)
c.4940G>T (p.Gly1647Val)
c.5138G>T (p.Gly1713Val)
c.5135G>T (p.Gly1712Val)
n.5296G>T
2g.71664360_71664379delinsACA2580067914DYSFc.2510_2529delinsA (p.Gly837GlufsTer?)
c.1727_1746delinsA (p.Gly576GlufsTer?)
c.1835_1854delinsA (p.Gly612GlufsTer?)
c.4979_4998delinsA (p.Gly1660GlufsTer?)
c.5096_5115delinsA (p.Gly1699GlufsTer?)
c.4982_5001delinsA (p.Gly1661GlufsTer?)
c.5045_5064delinsA (p.Gly1682GlufsTer?)
c.5093_5112delinsA (p.Gly1698GlufsTer?)
c.5075_5094delinsA (p.Gly1692GlufsTer?)
c.5003_5022delinsA (p.Gly1668GlufsTer?)
c.5030_5049delinsA (p.Gly1677GlufsTer?)
c.5033_5052delinsA (p.Gly1678GlufsTer?)
c.5072_5091delinsA (p.Gly1691GlufsTer?)
c.5042_5061delinsA (p.Gly1681GlufsTer?)
n.1864_1883delinsA
c.4937_4956delinsA (p.Gly1646GlufsTer?)
c.5000_5019delinsA (p.Gly1667GlufsTer?)
c.4940_4959delinsA (p.Gly1647GlufsTer?)
c.5138_5157delinsA (p.Gly1713GlufsTer?)
c.5135_5154delinsA (p.Gly1712GlufsTer?)
n.5296_5315delinsA
 ClinVar
2g.71664361T>ACA1707244DYSFc.2511T>A (p.Gly837=)
c.1728T>A (p.Gly576=)
c.1836T>A (p.Gly612=)
c.4980T>A (p.Gly1660=)
c.5097T>A (p.Gly1699=)
c.4983T>A (p.Gly1661=)
c.5046T>A (p.Gly1682=)
c.5094T>A (p.Gly1698=)
c.5076T>A (p.Gly1692=)
c.5004T>A (p.Gly1668=)
c.5031T>A (p.Gly1677=)
c.5034T>A (p.Gly1678=)
c.5073T>A (p.Gly1691=)
c.5043T>A (p.Gly1681=)
n.1865T>A
c.4938T>A (p.Gly1646=)
c.5001T>A (p.Gly1667=)
c.4941T>A (p.Gly1647=)
c.5139T>A (p.Gly1713=)
c.5136T>A (p.Gly1712=)
n.5297T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664361T>CCA426703948DYSFc.2511T>C (p.Gly837=)
c.1728T>C (p.Gly576=)
c.1836T>C (p.Gly612=)
c.4980T>C (p.Gly1660=)
c.5097T>C (p.Gly1699=)
c.4983T>C (p.Gly1661=)
c.5046T>C (p.Gly1682=)
c.5094T>C (p.Gly1698=)
c.5076T>C (p.Gly1692=)
c.5004T>C (p.Gly1668=)
c.5031T>C (p.Gly1677=)
c.5034T>C (p.Gly1678=)
c.5073T>C (p.Gly1691=)
c.5043T>C (p.Gly1681=)
n.1865T>C
c.4938T>C (p.Gly1646=)
c.5001T>C (p.Gly1667=)
c.4941T>C (p.Gly1647=)
c.5139T>C (p.Gly1713=)
c.5136T>C (p.Gly1712=)
n.5297T>C
 gnomAD v4
2g.71664361T>GCA426703949DYSFc.2511T>G (p.Gly837=)
c.1728T>G (p.Gly576=)
c.1836T>G (p.Gly612=)
c.4980T>G (p.Gly1660=)
c.5097T>G (p.Gly1699=)
c.4983T>G (p.Gly1661=)
c.5046T>G (p.Gly1682=)
c.5094T>G (p.Gly1698=)
c.5076T>G (p.Gly1692=)
c.5004T>G (p.Gly1668=)
c.5031T>G (p.Gly1677=)
c.5034T>G (p.Gly1678=)
c.5073T>G (p.Gly1691=)
c.5043T>G (p.Gly1681=)
n.1865T>G
c.4938T>G (p.Gly1646=)
c.5001T>G (p.Gly1667=)
c.4941T>G (p.Gly1647=)
c.5139T>G (p.Gly1713=)
c.5136T>G (p.Gly1712=)
n.5297T>G
 gnomAD v4
2g.71664361T=CA1260149770DYSFc.2511T= (p.Gly837=)
c.1728T= (p.Gly576=)
c.1836T= (p.Gly612=)
c.4980T= (p.Gly1660=)
c.5097T= (p.Gly1699=)
c.4983T= (p.Gly1661=)
c.5046T= (p.Gly1682=)
c.5094T= (p.Gly1698=)
c.5076T= (p.Gly1692=)
c.5004T= (p.Gly1668=)
c.5031T= (p.Gly1677=)
c.5034T= (p.Gly1678=)
c.5073T= (p.Gly1691=)
c.5043T= (p.Gly1681=)
n.1865T=
c.4938T= (p.Gly1646=)
c.5001T= (p.Gly1667=)
c.4941T= (p.Gly1647=)
c.5139T= (p.Gly1713=)
c.5136T= (p.Gly1712=)
n.5297T=
2g.71664362G>ACA347220430DYSFc.2512G>A (p.Glu838Lys)
c.1729G>A (p.Glu577Lys)
c.1837G>A (p.Glu613Lys)
c.4981G>A (p.Glu1661Lys)
c.5098G>A (p.Glu1700Lys)
c.4984G>A (p.Glu1662Lys)
c.5047G>A (p.Glu1683Lys)
c.5095G>A (p.Glu1699Lys)
c.5077G>A (p.Glu1693Lys)
c.5005G>A (p.Glu1669Lys)
c.5032G>A (p.Glu1678Lys)
c.5035G>A (p.Glu1679Lys)
c.5074G>A (p.Glu1692Lys)
c.5044G>A (p.Glu1682Lys)
n.1866G>A
c.4939G>A (p.Glu1647Lys)
c.5002G>A (p.Glu1668Lys)
c.4942G>A (p.Glu1648Lys)
c.5140G>A (p.Glu1714Lys)
c.5137G>A (p.Glu1713Lys)
n.5298G>A
2g.71664362G>CCA347220431DYSFc.2512G>C (p.Glu838Gln)
c.1729G>C (p.Glu577Gln)
c.1837G>C (p.Glu613Gln)
c.4981G>C (p.Glu1661Gln)
c.5098G>C (p.Glu1700Gln)
c.4984G>C (p.Glu1662Gln)
c.5047G>C (p.Glu1683Gln)
c.5095G>C (p.Glu1699Gln)
c.5077G>C (p.Glu1693Gln)
c.5005G>C (p.Glu1669Gln)
c.5032G>C (p.Glu1678Gln)
c.5035G>C (p.Glu1679Gln)
c.5074G>C (p.Glu1692Gln)
c.5044G>C (p.Glu1682Gln)
n.1866G>C
c.4939G>C (p.Glu1647Gln)
c.5002G>C (p.Glu1668Gln)
c.4942G>C (p.Glu1648Gln)
c.5140G>C (p.Glu1714Gln)
c.5137G>C (p.Glu1713Gln)
n.5298G>C
2g.71664362G>TCA347220433DYSFc.2512G>T (p.Glu838Ter)
c.1729G>T (p.Glu577Ter)
c.1837G>T (p.Glu613Ter)
c.4981G>T (p.Glu1661Ter)
c.5098G>T (p.Glu1700Ter)
c.4984G>T (p.Glu1662Ter)
c.5047G>T (p.Glu1683Ter)
c.5095G>T (p.Glu1699Ter)
c.5077G>T (p.Glu1693Ter)
c.5005G>T (p.Glu1669Ter)
c.5032G>T (p.Glu1678Ter)
c.5035G>T (p.Glu1679Ter)
c.5074G>T (p.Glu1692Ter)
c.5044G>T (p.Glu1682Ter)
n.1866G>T
c.4939G>T (p.Glu1647Ter)
c.5002G>T (p.Glu1668Ter)
c.4942G>T (p.Glu1648Ter)
c.5140G>T (p.Glu1714Ter)
c.5137G>T (p.Glu1713Ter)
n.5298G>T
2g.71664364_71664383delCA2586969527DYSFc.2514_2533del (p.Thr839GlnfsTer?)
c.1731_1750del (p.Thr578GlnfsTer?)
c.1839_1858del (p.Thr614GlnfsTer?)
c.4983_5002del (p.Thr1662GlnfsTer?)
c.5100_5119del (p.Thr1701GlnfsTer?)
c.4986_5005del (p.Thr1663GlnfsTer?)
c.5049_5068del (p.Thr1684GlnfsTer?)
c.5097_5116del (p.Thr1700GlnfsTer?)
c.5079_5098del (p.Thr1694GlnfsTer?)
c.5007_5026del (p.Thr1670GlnfsTer?)
c.5034_5053del (p.Thr1679GlnfsTer?)
c.5037_5056del (p.Thr1680GlnfsTer?)
c.5076_5095del (p.Thr1693GlnfsTer?)
c.5046_5065del (p.Thr1683GlnfsTer?)
n.1868_1887del
c.4941_4960del (p.Thr1648GlnfsTer?)
c.5004_5023del (p.Thr1669GlnfsTer?)
c.4944_4963del (p.Thr1649GlnfsTer?)
c.5142_5161del (p.Thr1715GlnfsTer?)
c.5139_5158del (p.Thr1714GlnfsTer?)
n.5300_5319del
2g.71664363A>CCA347220437DYSFc.2513A>C (p.Glu838Ala)
c.1730A>C (p.Glu577Ala)
c.1838A>C (p.Glu613Ala)
c.4982A>C (p.Glu1661Ala)
c.5099A>C (p.Glu1700Ala)
c.4985A>C (p.Glu1662Ala)
c.5048A>C (p.Glu1683Ala)
c.5096A>C (p.Glu1699Ala)
c.5078A>C (p.Glu1693Ala)
c.5006A>C (p.Glu1669Ala)
c.5033A>C (p.Glu1678Ala)
c.5036A>C (p.Glu1679Ala)
c.5075A>C (p.Glu1692Ala)
c.5045A>C (p.Glu1682Ala)
n.1867A>C
c.4940A>C (p.Glu1647Ala)
c.5003A>C (p.Glu1668Ala)
c.4943A>C (p.Glu1648Ala)
c.5141A>C (p.Glu1714Ala)
c.5138A>C (p.Glu1713Ala)
n.5299A>C
2g.71664363A>GCA347220438DYSFc.2513A>G (p.Glu838Gly)
c.1730A>G (p.Glu577Gly)
c.1838A>G (p.Glu613Gly)
c.4982A>G (p.Glu1661Gly)
c.5099A>G (p.Glu1700Gly)
c.4985A>G (p.Glu1662Gly)
c.5048A>G (p.Glu1683Gly)
c.5096A>G (p.Glu1699Gly)
c.5078A>G (p.Glu1693Gly)
c.5006A>G (p.Glu1669Gly)
c.5033A>G (p.Glu1678Gly)
c.5036A>G (p.Glu1679Gly)
c.5075A>G (p.Glu1692Gly)
c.5045A>G (p.Glu1682Gly)
n.1867A>G
c.4940A>G (p.Glu1647Gly)
c.5003A>G (p.Glu1668Gly)
c.4943A>G (p.Glu1648Gly)
c.5141A>G (p.Glu1714Gly)
c.5138A>G (p.Glu1713Gly)
n.5299A>G
 gnomAD v4
2g.71664363A>TCA347220435DYSFc.2513A>T (p.Glu838Val)
c.1730A>T (p.Glu577Val)
c.1838A>T (p.Glu613Val)
c.4982A>T (p.Glu1661Val)
c.5099A>T (p.Glu1700Val)
c.4985A>T (p.Glu1662Val)
c.5048A>T (p.Glu1683Val)
c.5096A>T (p.Glu1699Val)
c.5078A>T (p.Glu1693Val)
c.5006A>T (p.Glu1669Val)
c.5033A>T (p.Glu1678Val)
c.5036A>T (p.Glu1679Val)
c.5075A>T (p.Glu1692Val)
c.5045A>T (p.Glu1682Val)
n.1867A>T
c.4940A>T (p.Glu1647Val)
c.5003A>T (p.Glu1668Val)
c.4943A>T (p.Glu1648Val)
c.5141A>T (p.Glu1714Val)
c.5138A>T (p.Glu1713Val)
n.5299A>T
2g.71664364G>ACA426703950DYSFc.2514G>A (p.Glu838=)
c.1731G>A (p.Glu577=)
c.1839G>A (p.Glu613=)
c.4983G>A (p.Glu1661=)
c.5100G>A (p.Glu1700=)
c.4986G>A (p.Glu1662=)
c.5049G>A (p.Glu1683=)
c.5097G>A (p.Glu1699=)
c.5079G>A (p.Glu1693=)
c.5007G>A (p.Glu1669=)
c.5034G>A (p.Glu1678=)
c.5037G>A (p.Glu1679=)
c.5076G>A (p.Glu1692=)
c.5046G>A (p.Glu1682=)
n.1868G>A
c.4941G>A (p.Glu1647=)
c.5004G>A (p.Glu1668=)
c.4944G>A (p.Glu1648=)
c.5142G>A (p.Glu1714=)
c.5139G>A (p.Glu1713=)
n.5300G>A
 ClinVar dbSNP
2g.71664364G>CCA347220440DYSFc.2514G>C (p.Glu838Asp)
c.1731G>C (p.Glu577Asp)
c.1839G>C (p.Glu613Asp)
c.4983G>C (p.Glu1661Asp)
c.5100G>C (p.Glu1700Asp)
c.4986G>C (p.Glu1662Asp)
c.5049G>C (p.Glu1683Asp)
c.5097G>C (p.Glu1699Asp)
c.5079G>C (p.Glu1693Asp)
c.5007G>C (p.Glu1669Asp)
c.5034G>C (p.Glu1678Asp)
c.5037G>C (p.Glu1679Asp)
c.5076G>C (p.Glu1692Asp)
c.5046G>C (p.Glu1682Asp)
n.1868G>C
c.4941G>C (p.Glu1647Asp)
c.5004G>C (p.Glu1668Asp)
c.4944G>C (p.Glu1648Asp)
c.5142G>C (p.Glu1714Asp)
c.5139G>C (p.Glu1713Asp)
n.5300G>C
2g.71664364G=CA1260149771DYSFc.2514G= (p.Glu838=)
c.1731G= (p.Glu577=)
c.1839G= (p.Glu613=)
c.4983G= (p.Glu1661=)
c.5100G= (p.Glu1700=)
c.4986G= (p.Glu1662=)
c.5049G= (p.Glu1683=)
c.5097G= (p.Glu1699=)
c.5079G= (p.Glu1693=)
c.5007G= (p.Glu1669=)
c.5034G= (p.Glu1678=)
c.5037G= (p.Glu1679=)
c.5076G= (p.Glu1692=)
c.5046G= (p.Glu1682=)
n.1868G=
c.4941G= (p.Glu1647=)
c.5004G= (p.Glu1668=)
c.4944G= (p.Glu1648=)
c.5142G= (p.Glu1714=)
c.5139G= (p.Glu1713=)
n.5300G=
2g.71664364G>TCA347220441DYSFc.2514G>T (p.Glu838Asp)
c.1731G>T (p.Glu577Asp)
c.1839G>T (p.Glu613Asp)
c.4983G>T (p.Glu1661Asp)
c.5100G>T (p.Glu1700Asp)
c.4986G>T (p.Glu1662Asp)
c.5049G>T (p.Glu1683Asp)
c.5097G>T (p.Glu1699Asp)
c.5079G>T (p.Glu1693Asp)
c.5007G>T (p.Glu1669Asp)
c.5034G>T (p.Glu1678Asp)
c.5037G>T (p.Glu1679Asp)
c.5076G>T (p.Glu1692Asp)
c.5046G>T (p.Glu1682Asp)
n.1868G>T
c.4941G>T (p.Glu1647Asp)
c.5004G>T (p.Glu1668Asp)
c.4944G>T (p.Glu1648Asp)
c.5142G>T (p.Glu1714Asp)
c.5139G>T (p.Glu1713Asp)
n.5300G>T
2g.71664365A>CCA347220443DYSFc.2515A>C (p.Thr839Pro)
c.1732A>C (p.Thr578Pro)
c.1840A>C (p.Thr614Pro)
c.4984A>C (p.Thr1662Pro)
c.5101A>C (p.Thr1701Pro)
c.4987A>C (p.Thr1663Pro)
c.5050A>C (p.Thr1684Pro)
c.5098A>C (p.Thr1700Pro)
c.5080A>C (p.Thr1694Pro)
c.5008A>C (p.Thr1670Pro)
c.5035A>C (p.Thr1679Pro)
c.5038A>C (p.Thr1680Pro)
c.5077A>C (p.Thr1693Pro)
c.5047A>C (p.Thr1683Pro)
n.1869A>C
c.4942A>C (p.Thr1648Pro)
c.5005A>C (p.Thr1669Pro)
c.4945A>C (p.Thr1649Pro)
c.5143A>C (p.Thr1715Pro)
c.5140A>C (p.Thr1714Pro)
n.5301A>C
2g.71664365A>GCA347220444DYSFc.2515A>G (p.Thr839Ala)
c.1732A>G (p.Thr578Ala)
c.1840A>G (p.Thr614Ala)
c.4984A>G (p.Thr1662Ala)
c.5101A>G (p.Thr1701Ala)
c.4987A>G (p.Thr1663Ala)
c.5050A>G (p.Thr1684Ala)
c.5098A>G (p.Thr1700Ala)
c.5080A>G (p.Thr1694Ala)
c.5008A>G (p.Thr1670Ala)
c.5035A>G (p.Thr1679Ala)
c.5038A>G (p.Thr1680Ala)
c.5077A>G (p.Thr1693Ala)
c.5047A>G (p.Thr1683Ala)
n.1869A>G
c.4942A>G (p.Thr1648Ala)
c.5005A>G (p.Thr1669Ala)
c.4945A>G (p.Thr1649Ala)
c.5143A>G (p.Thr1715Ala)
c.5140A>G (p.Thr1714Ala)
n.5301A>G
2g.71664365A>TCA347220446DYSFc.2515A>T (p.Thr839Ser)
c.1732A>T (p.Thr578Ser)
c.1840A>T (p.Thr614Ser)
c.4984A>T (p.Thr1662Ser)
c.5101A>T (p.Thr1701Ser)
c.4987A>T (p.Thr1663Ser)
c.5050A>T (p.Thr1684Ser)
c.5098A>T (p.Thr1700Ser)
c.5080A>T (p.Thr1694Ser)
c.5008A>T (p.Thr1670Ser)
c.5035A>T (p.Thr1679Ser)
c.5038A>T (p.Thr1680Ser)
c.5077A>T (p.Thr1693Ser)
c.5047A>T (p.Thr1683Ser)
n.1869A>T
c.4942A>T (p.Thr1648Ser)
c.5005A>T (p.Thr1669Ser)
c.4945A>T (p.Thr1649Ser)
c.5143A>T (p.Thr1715Ser)
c.5140A>T (p.Thr1714Ser)
n.5301A>T
2g.71664366C>ACA347220448DYSFc.2516C>A (p.Thr839Lys)
c.1733C>A (p.Thr578Lys)
c.1841C>A (p.Thr614Lys)
c.4985C>A (p.Thr1662Lys)
c.5102C>A (p.Thr1701Lys)
c.4988C>A (p.Thr1663Lys)
c.5051C>A (p.Thr1684Lys)
c.5099C>A (p.Thr1700Lys)
c.5081C>A (p.Thr1694Lys)
c.5009C>A (p.Thr1670Lys)
c.5036C>A (p.Thr1679Lys)
c.5039C>A (p.Thr1680Lys)
c.5078C>A (p.Thr1693Lys)
c.5048C>A (p.Thr1683Lys)
n.1870C>A
c.4943C>A (p.Thr1648Lys)
c.5006C>A (p.Thr1669Lys)
c.4946C>A (p.Thr1649Lys)
c.5144C>A (p.Thr1715Lys)
c.5141C>A (p.Thr1714Lys)
n.5302C>A
2g.71664366C=CA1260149772DYSFc.2516C= (p.Thr839=)
c.1733C= (p.Thr578=)
c.1841C= (p.Thr614=)
c.4985C= (p.Thr1662=)
c.5102C= (p.Thr1701=)
c.4988C= (p.Thr1663=)
c.5051C= (p.Thr1684=)
c.5099C= (p.Thr1700=)
c.5081C= (p.Thr1694=)
c.5009C= (p.Thr1670=)
c.5036C= (p.Thr1679=)
c.5039C= (p.Thr1680=)
c.5078C= (p.Thr1693=)
c.5048C= (p.Thr1683=)
n.1870C=
c.4943C= (p.Thr1648=)
c.5006C= (p.Thr1669=)
c.4946C= (p.Thr1649=)
c.5144C= (p.Thr1715=)
c.5141C= (p.Thr1714=)
n.5302C=
2g.71664366C>GCA347220449DYSFc.2516C>G (p.Thr839Arg)
c.1733C>G (p.Thr578Arg)
c.1841C>G (p.Thr614Arg)
c.4985C>G (p.Thr1662Arg)
c.5102C>G (p.Thr1701Arg)
c.4988C>G (p.Thr1663Arg)
c.5051C>G (p.Thr1684Arg)
c.5099C>G (p.Thr1700Arg)
c.5081C>G (p.Thr1694Arg)
c.5009C>G (p.Thr1670Arg)
c.5036C>G (p.Thr1679Arg)
c.5039C>G (p.Thr1680Arg)
c.5078C>G (p.Thr1693Arg)
c.5048C>G (p.Thr1683Arg)
n.1870C>G
c.4943C>G (p.Thr1648Arg)
c.5006C>G (p.Thr1669Arg)
c.4946C>G (p.Thr1649Arg)
c.5144C>G (p.Thr1715Arg)
c.5141C>G (p.Thr1714Arg)
n.5302C>G
2g.71664366C>TCA1707245DYSFc.2516C>T (p.Thr839Met)
c.1733C>T (p.Thr578Met)
c.1841C>T (p.Thr614Met)
c.4985C>T (p.Thr1662Met)
c.5102C>T (p.Thr1701Met)
c.4988C>T (p.Thr1663Met)
c.5051C>T (p.Thr1684Met)
c.5099C>T (p.Thr1700Met)
c.5081C>T (p.Thr1694Met)
c.5009C>T (p.Thr1670Met)
c.5036C>T (p.Thr1679Met)
c.5039C>T (p.Thr1680Met)
c.5078C>T (p.Thr1693Met)
c.5048C>T (p.Thr1683Met)
n.1870C>T
c.4943C>T (p.Thr1648Met)
c.5006C>T (p.Thr1669Met)
c.4946C>T (p.Thr1649Met)
c.5144C>T (p.Thr1715Met)
c.5141C>T (p.Thr1714Met)
n.5302C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664367G>ACA1707246DYSFc.2517G>A (p.Thr839=)
c.1734G>A (p.Thr578=)
c.1842G>A (p.Thr614=)
c.4986G>A (p.Thr1662=)
c.5103G>A (p.Thr1701=)
c.4989G>A (p.Thr1663=)
c.5052G>A (p.Thr1684=)
c.5100G>A (p.Thr1700=)
c.5082G>A (p.Thr1694=)
c.5010G>A (p.Thr1670=)
c.5037G>A (p.Thr1679=)
c.5040G>A (p.Thr1680=)
c.5079G>A (p.Thr1693=)
c.5049G>A (p.Thr1683=)
n.1871G>A
c.4944G>A (p.Thr1648=)
c.5007G>A (p.Thr1669=)
c.4947G>A (p.Thr1649=)
c.5145G>A (p.Thr1715=)
c.5142G>A (p.Thr1714=)
n.5303G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71664367G>CCA426703951DYSFc.2517G>C (p.Thr839=)
c.1734G>C (p.Thr578=)
c.1842G>C (p.Thr614=)
c.4986G>C (p.Thr1662=)
c.5103G>C (p.Thr1701=)
c.4989G>C (p.Thr1663=)
c.5052G>C (p.Thr1684=)
c.5100G>C (p.Thr1700=)
c.5082G>C (p.Thr1694=)
c.5010G>C (p.Thr1670=)
c.5037G>C (p.Thr1679=)
c.5040G>C (p.Thr1680=)
c.5079G>C (p.Thr1693=)
c.5049G>C (p.Thr1683=)
n.1871G>C
c.4944G>C (p.Thr1648=)
c.5007G>C (p.Thr1669=)
c.4947G>C (p.Thr1649=)
c.5145G>C (p.Thr1715=)
c.5142G>C (p.Thr1714=)
n.5303G>C
 gnomAD v4
2g.71664367G=CA1260149773DYSFc.2517G= (p.Thr839=)
c.1734G= (p.Thr578=)
c.1842G= (p.Thr614=)
c.4986G= (p.Thr1662=)
c.5103G= (p.Thr1701=)
c.4989G= (p.Thr1663=)
c.5052G= (p.Thr1684=)
c.5100G= (p.Thr1700=)
c.5082G= (p.Thr1694=)
c.5010G= (p.Thr1670=)
c.5037G= (p.Thr1679=)
c.5040G= (p.Thr1680=)
c.5079G= (p.Thr1693=)
c.5049G= (p.Thr1683=)
n.1871G=
c.4944G= (p.Thr1648=)
c.5007G= (p.Thr1669=)
c.4947G= (p.Thr1649=)
c.5145G= (p.Thr1715=)
c.5142G= (p.Thr1714=)
n.5303G=
2g.71664367G>TCA426703952DYSFc.2517G>T (p.Thr839=)
c.1734G>T (p.Thr578=)
c.1842G>T (p.Thr614=)
c.4986G>T (p.Thr1662=)
c.5103G>T (p.Thr1701=)
c.4989G>T (p.Thr1663=)
c.5052G>T (p.Thr1684=)
c.5100G>T (p.Thr1700=)
c.5082G>T (p.Thr1694=)
c.5010G>T (p.Thr1670=)
c.5037G>T (p.Thr1679=)
c.5040G>T (p.Thr1680=)
c.5079G>T (p.Thr1693=)
c.5049G>T (p.Thr1683=)
n.1871G>T
c.4944G>T (p.Thr1648=)
c.5007G>T (p.Thr1669=)
c.4947G>T (p.Thr1649=)
c.5145G>T (p.Thr1715=)
c.5142G>T (p.Thr1714=)
n.5303G>T
2g.71664368G>ACA347220450DYSFc.2518G>A (p.Val840Ile)
c.1735G>A (p.Val579Ile)
c.1843G>A (p.Val615Ile)
c.4987G>A (p.Val1663Ile)
c.5104G>A (p.Val1702Ile)
c.4990G>A (p.Val1664Ile)
c.5053G>A (p.Val1685Ile)
c.5101G>A (p.Val1701Ile)
c.5083G>A (p.Val1695Ile)
c.5011G>A (p.Val1671Ile)
c.5038G>A (p.Val1680Ile)
c.5041G>A (p.Val1681Ile)
c.5080G>A (p.Val1694Ile)
c.5050G>A (p.Val1684Ile)
n.1872G>A
c.4945G>A (p.Val1649Ile)
c.5008G>A (p.Val1670Ile)
c.4948G>A (p.Val1650Ile)
c.5146G>A (p.Val1716Ile)
c.5143G>A (p.Val1715Ile)
n.5304G>A
2g.71664368G>CCA347220452DYSFc.2518G>C (p.Val840Leu)
c.1735G>C (p.Val579Leu)
c.1843G>C (p.Val615Leu)
c.4987G>C (p.Val1663Leu)
c.5104G>C (p.Val1702Leu)
c.4990G>C (p.Val1664Leu)
c.5053G>C (p.Val1685Leu)
c.5101G>C (p.Val1701Leu)
c.5083G>C (p.Val1695Leu)
c.5011G>C (p.Val1671Leu)
c.5038G>C (p.Val1680Leu)
c.5041G>C (p.Val1681Leu)
c.5080G>C (p.Val1694Leu)
c.5050G>C (p.Val1684Leu)
n.1872G>C
c.4945G>C (p.Val1649Leu)
c.5008G>C (p.Val1670Leu)
c.4948G>C (p.Val1650Leu)
c.5146G>C (p.Val1716Leu)
c.5143G>C (p.Val1715Leu)
n.5304G>C
2g.71664368G>TCA347220453DYSFc.2518G>T (p.Val840Phe)
c.1735G>T (p.Val579Phe)
c.1843G>T (p.Val615Phe)
c.4987G>T (p.Val1663Phe)
c.5104G>T (p.Val1702Phe)
c.4990G>T (p.Val1664Phe)
c.5053G>T (p.Val1685Phe)
c.5101G>T (p.Val1701Phe)
c.5083G>T (p.Val1695Phe)
c.5011G>T (p.Val1671Phe)
c.5038G>T (p.Val1680Phe)
c.5041G>T (p.Val1681Phe)
c.5080G>T (p.Val1694Phe)
c.5050G>T (p.Val1684Phe)
n.1872G>T
c.4945G>T (p.Val1649Phe)
c.5008G>T (p.Val1670Phe)
c.4948G>T (p.Val1650Phe)
c.5146G>T (p.Val1716Phe)
c.5143G>T (p.Val1715Phe)
n.5304G>T
 gnomAD v4
2g.71664372_71664374delCA2580611654DYSFc.2522_2524del (p.Val841del)
c.1739_1741del (p.Val580del)
c.1847_1849del (p.Val616del)
c.4991_4993del (p.Val1664del)
c.5108_5110del (p.Val1703del)
c.4994_4996del (p.Val1665del)
c.5057_5059del (p.Val1686del)
c.5105_5107del (p.Val1702del)
c.5087_5089del (p.Val1696del)
c.5015_5017del (p.Val1672del)
c.5042_5044del (p.Val1681del)
c.5045_5047del (p.Val1682del)
c.5084_5086del (p.Val1695del)
c.5054_5056del (p.Val1685del)
n.1876_1878del
c.4949_4951del (p.Val1650del)
c.5012_5014del (p.Val1671del)
c.4952_4954del (p.Val1651del)
c.5150_5152del (p.Val1717del)
c.5147_5149del (p.Val1716del)
n.5308_5310del
 ClinVar
2g.71664369T>ACA347220455DYSFc.2519T>A (p.Val840Asp)
c.1736T>A (p.Val579Asp)
c.1844T>A (p.Val615Asp)
c.4988T>A (p.Val1663Asp)
c.5105T>A (p.Val1702Asp)
c.4991T>A (p.Val1664Asp)
c.5054T>A (p.Val1685Asp)
c.5102T>A (p.Val1701Asp)
c.5084T>A (p.Val1695Asp)
c.5012T>A (p.Val1671Asp)
c.5039T>A (p.Val1680Asp)
c.5042T>A (p.Val1681Asp)
c.5081T>A (p.Val1694Asp)
c.5051T>A (p.Val1684Asp)
n.1873T>A
c.4946T>A (p.Val1649Asp)
c.5009T>A (p.Val1670Asp)
c.4949T>A (p.Val1650Asp)
c.5147T>A (p.Val1716Asp)
c.5144T>A (p.Val1715Asp)
n.5305T>A
2g.71664369T>CCA347220456DYSFc.2519T>C (p.Val840Ala)
c.1736T>C (p.Val579Ala)
c.1844T>C (p.Val615Ala)
c.4988T>C (p.Val1663Ala)
c.5105T>C (p.Val1702Ala)
c.4991T>C (p.Val1664Ala)
c.5054T>C (p.Val1685Ala)
c.5102T>C (p.Val1701Ala)
c.5084T>C (p.Val1695Ala)
c.5012T>C (p.Val1671Ala)
c.5039T>C (p.Val1680Ala)
c.5042T>C (p.Val1681Ala)
c.5081T>C (p.Val1694Ala)
c.5051T>C (p.Val1684Ala)
n.1873T>C
c.4946T>C (p.Val1649Ala)
c.5009T>C (p.Val1670Ala)
c.4949T>C (p.Val1650Ala)
c.5147T>C (p.Val1716Ala)
c.5144T>C (p.Val1715Ala)
n.5305T>C
2g.71664369T>GCA347220454DYSFc.2519T>G (p.Val840Gly)
c.1736T>G (p.Val579Gly)
c.1844T>G (p.Val615Gly)
c.4988T>G (p.Val1663Gly)
c.5105T>G (p.Val1702Gly)
c.4991T>G (p.Val1664Gly)
c.5054T>G (p.Val1685Gly)
c.5102T>G (p.Val1701Gly)
c.5084T>G (p.Val1695Gly)
c.5012T>G (p.Val1671Gly)
c.5039T>G (p.Val1680Gly)
c.5042T>G (p.Val1681Gly)
c.5081T>G (p.Val1694Gly)
c.5051T>G (p.Val1684Gly)
n.1873T>G
c.4946T>G (p.Val1649Gly)
c.5009T>G (p.Val1670Gly)
c.4949T>G (p.Val1650Gly)
c.5147T>G (p.Val1716Gly)
c.5144T>G (p.Val1715Gly)
n.5305T>G
2g.71664369_71664370delCA2586969528DYSFc.2519_2520del (p.Val840GlyfsTer?)
c.1736_1737del (p.Val579GlyfsTer?)
c.1844_1845del (p.Val615GlyfsTer?)
c.4988_4989del (p.Val1663GlyfsTer?)
c.5105_5106del (p.Val1702GlyfsTer?)
c.4991_4992del (p.Val1664GlyfsTer?)
c.5054_5055del (p.Val1685GlyfsTer?)
c.5102_5103del (p.Val1701GlyfsTer?)
c.5084_5085del (p.Val1695GlyfsTer?)
c.5012_5013del (p.Val1671GlyfsTer?)
c.5039_5040del (p.Val1680GlyfsTer?)
c.5042_5043del (p.Val1681GlyfsTer?)
c.5081_5082del (p.Val1694GlyfsTer?)
c.5051_5052del (p.Val1684GlyfsTer?)
n.1873_1874del
c.4946_4947del (p.Val1649GlyfsTer?)
c.5009_5010del (p.Val1670GlyfsTer?)
c.4949_4950del (p.Val1650GlyfsTer?)
c.5147_5148del (p.Val1716GlyfsTer?)
c.5144_5145del (p.Val1715GlyfsTer?)
n.5305_5306del
2g.71664370C>ACA426703953DYSFc.2520C>A (p.Val840=)
c.1737C>A (p.Val579=)
c.1845C>A (p.Val615=)
c.4989C>A (p.Val1663=)
c.5106C>A (p.Val1702=)
c.4992C>A (p.Val1664=)
c.5055C>A (p.Val1685=)
c.5103C>A (p.Val1701=)
c.5085C>A (p.Val1695=)
c.5013C>A (p.Val1671=)
c.5040C>A (p.Val1680=)
c.5043C>A (p.Val1681=)
c.5082C>A (p.Val1694=)
c.5052C>A (p.Val1684=)
n.1874C>A
c.4947C>A (p.Val1649=)
c.5010C>A (p.Val1670=)
c.4950C>A (p.Val1650=)
c.5148C>A (p.Val1716=)
c.5145C>A (p.Val1715=)
n.5306C>A
 gnomAD v4
2g.71664370C=CA1260149774DYSFc.2520C= (p.Val840=)
c.1737C= (p.Val579=)
c.1845C= (p.Val615=)
c.4989C= (p.Val1663=)
c.5106C= (p.Val1702=)
c.4992C= (p.Val1664=)
c.5055C= (p.Val1685=)
c.5103C= (p.Val1701=)
c.5085C= (p.Val1695=)
c.5013C= (p.Val1671=)
c.5040C= (p.Val1680=)
c.5043C= (p.Val1681=)
c.5082C= (p.Val1694=)
c.5052C= (p.Val1684=)
n.1874C=
c.4947C= (p.Val1649=)
c.5010C= (p.Val1670=)
c.4950C= (p.Val1650=)
c.5148C= (p.Val1716=)
c.5145C= (p.Val1715=)
n.5306C=
2g.71664370C>GCA426703954DYSFc.2520C>G (p.Val840=)
c.1737C>G (p.Val579=)
c.1845C>G (p.Val615=)
c.4989C>G (p.Val1663=)
c.5106C>G (p.Val1702=)
c.4992C>G (p.Val1664=)
c.5055C>G (p.Val1685=)
c.5103C>G (p.Val1701=)
c.5085C>G (p.Val1695=)
c.5013C>G (p.Val1671=)
c.5040C>G (p.Val1680=)
c.5043C>G (p.Val1681=)
c.5082C>G (p.Val1694=)
c.5052C>G (p.Val1684=)
n.1874C>G
c.4947C>G (p.Val1649=)
c.5010C>G (p.Val1670=)
c.4950C>G (p.Val1650=)
c.5148C>G (p.Val1716=)
c.5145C>G (p.Val1715=)
n.5306C>G
 ClinVar
2g.71664370C>TCA1707247DYSFc.2520C>T (p.Val840=)
c.1737C>T (p.Val579=)
c.1845C>T (p.Val615=)
c.4989C>T (p.Val1663=)
c.5106C>T (p.Val1702=)
c.4992C>T (p.Val1664=)
c.5055C>T (p.Val1685=)
c.5103C>T (p.Val1701=)
c.5085C>T (p.Val1695=)
c.5013C>T (p.Val1671=)
c.5040C>T (p.Val1680=)
c.5043C>T (p.Val1681=)
c.5082C>T (p.Val1694=)
c.5052C>T (p.Val1684=)
n.1874C>T
c.4947C>T (p.Val1649=)
c.5010C>T (p.Val1670=)
c.4950C>T (p.Val1650=)
c.5148C>T (p.Val1716=)
c.5145C>T (p.Val1715=)
n.5306C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664370_71664371insCGGTCA2586969529DYSFc.2520_2521insCGGT (p.Val841ArgfsTer?)
c.1737_1738insCGGT (p.Val580ArgfsTer?)
c.1845_1846insCGGT (p.Val616ArgfsTer?)
c.4989_4990insCGGT (p.Val1664ArgfsTer?)
c.5106_5107insCGGT (p.Val1703ArgfsTer?)
c.4992_4993insCGGT (p.Val1665ArgfsTer?)
c.5055_5056insCGGT (p.Val1686ArgfsTer?)
c.5103_5104insCGGT (p.Val1702ArgfsTer?)
c.5085_5086insCGGT (p.Val1696ArgfsTer?)
c.5013_5014insCGGT (p.Val1672ArgfsTer?)
c.5040_5041insCGGT (p.Val1681ArgfsTer?)
c.5043_5044insCGGT (p.Val1682ArgfsTer?)
c.5082_5083insCGGT (p.Val1695ArgfsTer?)
c.5052_5053insCGGT (p.Val1685ArgfsTer?)
n.1874_1875insCGGT
c.4947_4948insCGGT (p.Val1650ArgfsTer?)
c.5010_5011insCGGT (p.Val1671ArgfsTer?)
c.4950_4951insCGGT (p.Val1651ArgfsTer?)
c.5148_5149insCGGT (p.Val1717ArgfsTer?)
c.5145_5146insCGGT (p.Val1716ArgfsTer?)
n.5306_5307insCGGT
2g.71664371G>ACA1707248DYSFc.2521G>A (p.Val841Ile)
c.1738G>A (p.Val580Ile)
c.1846G>A (p.Val616Ile)
c.4990G>A (p.Val1664Ile)
c.5107G>A (p.Val1703Ile)
c.4993G>A (p.Val1665Ile)
c.5056G>A (p.Val1686Ile)
c.5104G>A (p.Val1702Ile)
c.5086G>A (p.Val1696Ile)
c.5014G>A (p.Val1672Ile)
c.5041G>A (p.Val1681Ile)
c.5044G>A (p.Val1682Ile)
c.5083G>A (p.Val1695Ile)
c.5053G>A (p.Val1685Ile)
n.1875G>A
c.4948G>A (p.Val1650Ile)
c.5011G>A (p.Val1671Ile)
c.4951G>A (p.Val1651Ile)
c.5149G>A (p.Val1717Ile)
c.5146G>A (p.Val1716Ile)
n.5307G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664371G>CCA347220460DYSFc.2521G>C (p.Val841Leu)
c.1738G>C (p.Val580Leu)
c.1846G>C (p.Val616Leu)
c.4990G>C (p.Val1664Leu)
c.5107G>C (p.Val1703Leu)
c.4993G>C (p.Val1665Leu)
c.5056G>C (p.Val1686Leu)
c.5104G>C (p.Val1702Leu)
c.5086G>C (p.Val1696Leu)
c.5014G>C (p.Val1672Leu)
c.5041G>C (p.Val1681Leu)
c.5044G>C (p.Val1682Leu)
c.5083G>C (p.Val1695Leu)
c.5053G>C (p.Val1685Leu)
n.1875G>C
c.4948G>C (p.Val1650Leu)
c.5011G>C (p.Val1671Leu)
c.4951G>C (p.Val1651Leu)
c.5149G>C (p.Val1717Leu)
c.5146G>C (p.Val1716Leu)
n.5307G>C
2g.71664371G=CA1260149775DYSFc.2521G= (p.Val841=)
c.1738G= (p.Val580=)
c.1846G= (p.Val616=)
c.4990G= (p.Val1664=)
c.5107G= (p.Val1703=)
c.4993G= (p.Val1665=)
c.5056G= (p.Val1686=)
c.5104G= (p.Val1702=)
c.5086G= (p.Val1696=)
c.5014G= (p.Val1672=)
c.5041G= (p.Val1681=)
c.5044G= (p.Val1682=)
c.5083G= (p.Val1695=)
c.5053G= (p.Val1685=)
n.1875G=
c.4948G= (p.Val1650=)
c.5011G= (p.Val1671=)
c.4951G= (p.Val1651=)
c.5149G= (p.Val1717=)
c.5146G= (p.Val1716=)
n.5307G=
2g.71664371G>TCA347220461DYSFc.2521G>T (p.Val841Phe)
c.1738G>T (p.Val580Phe)
c.1846G>T (p.Val616Phe)
c.4990G>T (p.Val1664Phe)
c.5107G>T (p.Val1703Phe)
c.4993G>T (p.Val1665Phe)
c.5056G>T (p.Val1686Phe)
c.5104G>T (p.Val1702Phe)
c.5086G>T (p.Val1696Phe)
c.5014G>T (p.Val1672Phe)
c.5041G>T (p.Val1681Phe)
c.5044G>T (p.Val1682Phe)
c.5083G>T (p.Val1695Phe)
c.5053G>T (p.Val1685Phe)
n.1875G>T
c.4948G>T (p.Val1650Phe)
c.5011G>T (p.Val1671Phe)
c.4951G>T (p.Val1651Phe)
c.5149G>T (p.Val1717Phe)
c.5146G>T (p.Val1716Phe)
n.5307G>T
2g.71664372T>ACA347220467DYSFc.2522T>A (p.Val841Asp)
c.1739T>A (p.Val580Asp)
c.1847T>A (p.Val616Asp)
c.4991T>A (p.Val1664Asp)
c.5108T>A (p.Val1703Asp)
c.4994T>A (p.Val1665Asp)
c.5057T>A (p.Val1686Asp)
c.5105T>A (p.Val1702Asp)
c.5087T>A (p.Val1696Asp)
c.5015T>A (p.Val1672Asp)
c.5042T>A (p.Val1681Asp)
c.5045T>A (p.Val1682Asp)
c.5084T>A (p.Val1695Asp)
c.5054T>A (p.Val1685Asp)
n.1876T>A
c.4949T>A (p.Val1650Asp)
c.5012T>A (p.Val1671Asp)
c.4952T>A (p.Val1651Asp)
c.5150T>A (p.Val1717Asp)
c.5147T>A (p.Val1716Asp)
n.5308T>A
2g.71664372T>CCA347220466DYSFc.2522T>C (p.Val841Ala)
c.1739T>C (p.Val580Ala)
c.1847T>C (p.Val616Ala)
c.4991T>C (p.Val1664Ala)
c.5108T>C (p.Val1703Ala)
c.4994T>C (p.Val1665Ala)
c.5057T>C (p.Val1686Ala)
c.5105T>C (p.Val1702Ala)
c.5087T>C (p.Val1696Ala)
c.5015T>C (p.Val1672Ala)
c.5042T>C (p.Val1681Ala)
c.5045T>C (p.Val1682Ala)
c.5084T>C (p.Val1695Ala)
c.5054T>C (p.Val1685Ala)
n.1876T>C
c.4949T>C (p.Val1650Ala)
c.5012T>C (p.Val1671Ala)
c.4952T>C (p.Val1651Ala)
c.5150T>C (p.Val1717Ala)
c.5147T>C (p.Val1716Ala)
n.5308T>C
2g.71664372T>GCA347220464DYSFc.2522T>G (p.Val841Gly)
c.1739T>G (p.Val580Gly)
c.1847T>G (p.Val616Gly)
c.4991T>G (p.Val1664Gly)
c.5108T>G (p.Val1703Gly)
c.4994T>G (p.Val1665Gly)
c.5057T>G (p.Val1686Gly)
c.5105T>G (p.Val1702Gly)
c.5087T>G (p.Val1696Gly)
c.5015T>G (p.Val1672Gly)
c.5042T>G (p.Val1681Gly)
c.5045T>G (p.Val1682Gly)
c.5084T>G (p.Val1695Gly)
c.5054T>G (p.Val1685Gly)
n.1876T>G
c.4949T>G (p.Val1650Gly)
c.5012T>G (p.Val1671Gly)
c.4952T>G (p.Val1651Gly)
c.5150T>G (p.Val1717Gly)
c.5147T>G (p.Val1716Gly)
n.5308T>G
2g.71664373C>ACA426703955DYSFc.2523C>A (p.Val841=)
c.1740C>A (p.Val580=)
c.1848C>A (p.Val616=)
c.4992C>A (p.Val1664=)
c.5109C>A (p.Val1703=)
c.4995C>A (p.Val1665=)
c.5058C>A (p.Val1686=)
c.5106C>A (p.Val1702=)
c.5088C>A (p.Val1696=)
c.5016C>A (p.Val1672=)
c.5043C>A (p.Val1681=)
c.5046C>A (p.Val1682=)
c.5085C>A (p.Val1695=)
c.5055C>A (p.Val1685=)
n.1877C>A
c.4950C>A (p.Val1650=)
c.5013C>A (p.Val1671=)
c.4953C>A (p.Val1651=)
c.5151C>A (p.Val1717=)
c.5148C>A (p.Val1716=)
n.5309C>A
2g.71664373C=CA1260149776DYSFc.2523C= (p.Val841=)
c.1740C= (p.Val580=)
c.1848C= (p.Val616=)
c.4992C= (p.Val1664=)
c.5109C= (p.Val1703=)
c.4995C= (p.Val1665=)
c.5058C= (p.Val1686=)
c.5106C= (p.Val1702=)
c.5088C= (p.Val1696=)
c.5016C= (p.Val1672=)
c.5043C= (p.Val1681=)
c.5046C= (p.Val1682=)
c.5085C= (p.Val1695=)
c.5055C= (p.Val1685=)
n.1877C=
c.4950C= (p.Val1650=)
c.5013C= (p.Val1671=)
c.4953C= (p.Val1651=)
c.5151C= (p.Val1717=)
c.5148C= (p.Val1716=)
n.5309C=
2g.71664373C>GCA426703956DYSFc.2523C>G (p.Val841=)
c.1740C>G (p.Val580=)
c.1848C>G (p.Val616=)
c.4992C>G (p.Val1664=)
c.5109C>G (p.Val1703=)
c.4995C>G (p.Val1665=)
c.5058C>G (p.Val1686=)
c.5106C>G (p.Val1702=)
c.5088C>G (p.Val1696=)
c.5016C>G (p.Val1672=)
c.5043C>G (p.Val1681=)
c.5046C>G (p.Val1682=)
c.5085C>G (p.Val1695=)
c.5055C>G (p.Val1685=)
n.1877C>G
c.4950C>G (p.Val1650=)
c.5013C>G (p.Val1671=)
c.4953C>G (p.Val1651=)
c.5151C>G (p.Val1717=)
c.5148C>G (p.Val1716=)
n.5309C>G
2g.71664373C>TCA1707249DYSFc.2523C>T (p.Val841=)
c.1740C>T (p.Val580=)
c.1848C>T (p.Val616=)
c.4992C>T (p.Val1664=)
c.5109C>T (p.Val1703=)
c.4995C>T (p.Val1665=)
c.5058C>T (p.Val1686=)
c.5106C>T (p.Val1702=)
c.5088C>T (p.Val1696=)
c.5016C>T (p.Val1672=)
c.5043C>T (p.Val1681=)
c.5046C>T (p.Val1682=)
c.5085C>T (p.Val1695=)
c.5055C>T (p.Val1685=)
n.1877C>T
c.4950C>T (p.Val1650=)
c.5013C>T (p.Val1671=)
c.4953C>T (p.Val1651=)
c.5151C>T (p.Val1717=)
c.5148C>T (p.Val1716=)
n.5309C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71664374G>ACA1707250DYSFc.2524G>A (p.Asp842Asn)
c.1741G>A (p.Asp581Asn)
c.1849G>A (p.Asp617Asn)
c.4993G>A (p.Asp1665Asn)
c.5110G>A (p.Asp1704Asn)
c.4996G>A (p.Asp1666Asn)
c.5059G>A (p.Asp1687Asn)
c.5107G>A (p.Asp1703Asn)
c.5089G>A (p.Asp1697Asn)
c.5017G>A (p.Asp1673Asn)
c.5044G>A (p.Asp1682Asn)
c.5047G>A (p.Asp1683Asn)
c.5086G>A (p.Asp1696Asn)
c.5056G>A (p.Asp1686Asn)
n.1878G>A
c.4951G>A (p.Asp1651Asn)
c.5014G>A (p.Asp1672Asn)
c.4954G>A (p.Asp1652Asn)
c.5152G>A (p.Asp1718Asn)
c.5149G>A (p.Asp1717Asn)
n.5310G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71664374G>CCA347220469DYSFc.2524G>C (p.Asp842His)
c.1741G>C (p.Asp581His)
c.1849G>C (p.Asp617His)
c.4993G>C (p.Asp1665His)
c.5110G>C (p.Asp1704His)
c.4996G>C (p.Asp1666His)
c.5059G>C (p.Asp1687His)
c.5107G>C (p.Asp1703His)
c.5089G>C (p.Asp1697His)
c.5017G>C (p.Asp1673His)
c.5044G>C (p.Asp1682His)
c.5047G>C (p.Asp1683His)
c.5086G>C (p.Asp1696His)
c.5056G>C (p.Asp1686His)
n.1878G>C
c.4951G>C (p.Asp1651His)
c.5014G>C (p.Asp1672His)
c.4954G>C (p.Asp1652His)
c.5152G>C (p.Asp1718His)
c.5149G>C (p.Asp1717His)
n.5310G>C
2g.71664374G=CA1260149777DYSFc.2524G= (p.Asp842=)
c.1741G= (p.Asp581=)
c.1849G= (p.Asp617=)
c.4993G= (p.Asp1665=)
c.5110G= (p.Asp1704=)
c.4996G= (p.Asp1666=)
c.5059G= (p.Asp1687=)
c.5107G= (p.Asp1703=)
c.5089G= (p.Asp1697=)
c.5017G= (p.Asp1673=)
c.5044G= (p.Asp1682=)
c.5047G= (p.Asp1683=)
c.5086G= (p.Asp1696=)
c.5056G= (p.Asp1686=)
n.1878G=
c.4951G= (p.Asp1651=)
c.5014G= (p.Asp1672=)
c.4954G= (p.Asp1652=)
c.5152G= (p.Asp1718=)
c.5149G= (p.Asp1717=)
n.5310G=
2g.71664374G>TCA347220471DYSFc.2524G>T (p.Asp842Tyr)
c.1741G>T (p.Asp581Tyr)
c.1849G>T (p.Asp617Tyr)
c.4993G>T (p.Asp1665Tyr)
c.5110G>T (p.Asp1704Tyr)
c.4996G>T (p.Asp1666Tyr)
c.5059G>T (p.Asp1687Tyr)
c.5107G>T (p.Asp1703Tyr)
c.5089G>T (p.Asp1697Tyr)
c.5017G>T (p.Asp1673Tyr)
c.5044G>T (p.Asp1682Tyr)
c.5047G>T (p.Asp1683Tyr)
c.5086G>T (p.Asp1696Tyr)
c.5056G>T (p.Asp1686Tyr)
n.1878G>T
c.4951G>T (p.Asp1651Tyr)
c.5014G>T (p.Asp1672Tyr)
c.4954G>T (p.Asp1652Tyr)
c.5152G>T (p.Asp1718Tyr)
c.5149G>T (p.Asp1717Tyr)
n.5310G>T
2g.71664375A>CCA347220473DYSFc.2525A>C (p.Asp842Ala)
c.1742A>C (p.Asp581Ala)
c.1850A>C (p.Asp617Ala)
c.4994A>C (p.Asp1665Ala)
c.5111A>C (p.Asp1704Ala)
c.4997A>C (p.Asp1666Ala)
c.5060A>C (p.Asp1687Ala)
c.5108A>C (p.Asp1703Ala)
c.5090A>C (p.Asp1697Ala)
c.5018A>C (p.Asp1673Ala)
c.5045A>C (p.Asp1682Ala)
c.5048A>C (p.Asp1683Ala)
c.5087A>C (p.Asp1696Ala)
c.5057A>C (p.Asp1686Ala)
n.1879A>C
c.4952A>C (p.Asp1651Ala)
c.5015A>C (p.Asp1672Ala)
c.4955A>C (p.Asp1652Ala)
c.5153A>C (p.Asp1718Ala)
c.5150A>C (p.Asp1717Ala)
n.5311A>C
2g.71664375A>GCA347220474DYSFc.2525A>G (p.Asp842Gly)
c.1742A>G (p.Asp581Gly)
c.1850A>G (p.Asp617Gly)
c.4994A>G (p.Asp1665Gly)
c.5111A>G (p.Asp1704Gly)
c.4997A>G (p.Asp1666Gly)
c.5060A>G (p.Asp1687Gly)
c.5108A>G (p.Asp1703Gly)
c.5090A>G (p.Asp1697Gly)
c.5018A>G (p.Asp1673Gly)
c.5045A>G (p.Asp1682Gly)
c.5048A>G (p.Asp1683Gly)
c.5087A>G (p.Asp1696Gly)
c.5057A>G (p.Asp1686Gly)
n.1879A>G
c.4952A>G (p.Asp1651Gly)
c.5015A>G (p.Asp1672Gly)
c.4955A>G (p.Asp1652Gly)
c.5153A>G (p.Asp1718Gly)
c.5150A>G (p.Asp1717Gly)
n.5311A>G
 gnomAD v4
2g.71664375A>TCA347220476DYSFc.2525A>T (p.Asp842Val)
c.1742A>T (p.Asp581Val)
c.1850A>T (p.Asp617Val)
c.4994A>T (p.Asp1665Val)
c.5111A>T (p.Asp1704Val)
c.4997A>T (p.Asp1666Val)
c.5060A>T (p.Asp1687Val)
c.5108A>T (p.Asp1703Val)
c.5090A>T (p.Asp1697Val)
c.5018A>T (p.Asp1673Val)
c.5045A>T (p.Asp1682Val)
c.5048A>T (p.Asp1683Val)
c.5087A>T (p.Asp1696Val)
c.5057A>T (p.Asp1686Val)
n.1879A>T
c.4952A>T (p.Asp1651Val)
c.5015A>T (p.Asp1672Val)
c.4955A>T (p.Asp1652Val)
c.5153A>T (p.Asp1718Val)
c.5150A>T (p.Asp1717Val)
n.5311A>T
2g.71664376C>ACA347220478DYSFc.2526C>A (p.Asp842Glu)
c.1743C>A (p.Asp581Glu)
c.1851C>A (p.Asp617Glu)
c.4995C>A (p.Asp1665Glu)
c.5112C>A (p.Asp1704Glu)
c.4998C>A (p.Asp1666Glu)
c.5061C>A (p.Asp1687Glu)
c.5109C>A (p.Asp1703Glu)
c.5091C>A (p.Asp1697Glu)
c.5019C>A (p.Asp1673Glu)
c.5046C>A (p.Asp1682Glu)
c.5049C>A (p.Asp1683Glu)
c.5088C>A (p.Asp1696Glu)
c.5058C>A (p.Asp1686Glu)
n.1880C>A
c.4953C>A (p.Asp1651Glu)
c.5016C>A (p.Asp1672Glu)
c.4956C>A (p.Asp1652Glu)
c.5154C>A (p.Asp1718Glu)
c.5151C>A (p.Asp1717Glu)
n.5312C>A
2g.71664376C>GCA347220479DYSFc.2526C>G (p.Asp842Glu)
c.1743C>G (p.Asp581Glu)
c.1851C>G (p.Asp617Glu)
c.4995C>G (p.Asp1665Glu)
c.5112C>G (p.Asp1704Glu)
c.4998C>G (p.Asp1666Glu)
c.5061C>G (p.Asp1687Glu)
c.5109C>G (p.Asp1703Glu)
c.5091C>G (p.Asp1697Glu)
c.5019C>G (p.Asp1673Glu)
c.5046C>G (p.Asp1682Glu)
c.5049C>G (p.Asp1683Glu)
c.5088C>G (p.Asp1696Glu)
c.5058C>G (p.Asp1686Glu)
n.1880C>G
c.4953C>G (p.Asp1651Glu)
c.5016C>G (p.Asp1672Glu)
c.4956C>G (p.Asp1652Glu)
c.5154C>G (p.Asp1718Glu)
c.5151C>G (p.Asp1717Glu)
n.5312C>G
2g.71664376C>TCA426703957DYSFc.2526C>T (p.Asp842=)
c.1743C>T (p.Asp581=)
c.1851C>T (p.Asp617=)
c.4995C>T (p.Asp1665=)
c.5112C>T (p.Asp1704=)
c.4998C>T (p.Asp1666=)
c.5061C>T (p.Asp1687=)
c.5109C>T (p.Asp1703=)
c.5091C>T (p.Asp1697=)
c.5019C>T (p.Asp1673=)
c.5046C>T (p.Asp1682=)
c.5049C>T (p.Asp1683=)
c.5088C>T (p.Asp1696=)
c.5058C>T (p.Asp1686=)
n.1880C>T
c.4953C>T (p.Asp1651=)
c.5016C>T (p.Asp1672=)
c.4956C>T (p.Asp1652=)
c.5154C>T (p.Asp1718=)
c.5151C>T (p.Asp1717=)
n.5312C>T
 gnomAD v3 gnomAD v4
2g.71664377delCA2586969530DYSFc.2527del (p.Leu843TrpfsTer?)
c.1744del (p.Leu582TrpfsTer?)
c.1852del (p.Leu618TrpfsTer?)
c.4996del (p.Leu1666TrpfsTer?)
c.5113del (p.Leu1705TrpfsTer?)
c.4999del (p.Leu1667TrpfsTer?)
c.5062del (p.Leu1688TrpfsTer?)
c.5110del (p.Leu1704TrpfsTer?)
c.5092del (p.Leu1698TrpfsTer?)
c.5020del (p.Leu1674TrpfsTer?)
c.5047del (p.Leu1683TrpfsTer?)
c.5050del (p.Leu1684TrpfsTer?)
c.5089del (p.Leu1697TrpfsTer?)
c.5059del (p.Leu1687TrpfsTer?)
n.1881del
c.4954del (p.Leu1652TrpfsTer?)
c.5017del (p.Leu1673TrpfsTer?)
c.4957del (p.Leu1653TrpfsTer?)
c.5155del (p.Leu1719TrpfsTer?)
c.5152del (p.Leu1718TrpfsTer?)
n.5313del
2g.71664377C>ACA347220481DYSFc.2527C>A (p.Leu843Met)
c.1744C>A (p.Leu582Met)
c.1852C>A (p.Leu618Met)
c.4996C>A (p.Leu1666Met)
c.5113C>A (p.Leu1705Met)
c.4999C>A (p.Leu1667Met)
c.5062C>A (p.Leu1688Met)
c.5110C>A (p.Leu1704Met)
c.5092C>A (p.Leu1698Met)
c.5020C>A (p.Leu1674Met)
c.5047C>A (p.Leu1683Met)
c.5050C>A (p.Leu1684Met)
c.5089C>A (p.Leu1697Met)
c.5059C>A (p.Leu1687Met)
n.1881C>A
c.4954C>A (p.Leu1652Met)
c.5017C>A (p.Leu1673Met)
c.4957C>A (p.Leu1653Met)
c.5155C>A (p.Leu1719Met)
c.5152C>A (p.Leu1718Met)
n.5313C>A
2g.71664377C=CA1260149778DYSFc.2527C= (p.Leu843=)
c.1744C= (p.Leu582=)
c.1852C= (p.Leu618=)
c.4996C= (p.Leu1666=)
c.5113C= (p.Leu1705=)
c.4999C= (p.Leu1667=)
c.5062C= (p.Leu1688=)
c.5110C= (p.Leu1704=)
c.5092C= (p.Leu1698=)
c.5020C= (p.Leu1674=)
c.5047C= (p.Leu1683=)
c.5050C= (p.Leu1684=)
c.5089C= (p.Leu1697=)
c.5059C= (p.Leu1687=)
n.1881C=
c.4954C= (p.Leu1652=)
c.5017C= (p.Leu1673=)
c.4957C= (p.Leu1653=)
c.5155C= (p.Leu1719=)
c.5152C= (p.Leu1718=)
n.5313C=
2g.71664377C>GCA347220483DYSFc.2527C>G (p.Leu843Val)
c.1744C>G (p.Leu582Val)
c.1852C>G (p.Leu618Val)
c.4996C>G (p.Leu1666Val)
c.5113C>G (p.Leu1705Val)
c.4999C>G (p.Leu1667Val)
c.5062C>G (p.Leu1688Val)
c.5110C>G (p.Leu1704Val)
c.5092C>G (p.Leu1698Val)
c.5020C>G (p.Leu1674Val)
c.5047C>G (p.Leu1683Val)
c.5050C>G (p.Leu1684Val)
c.5089C>G (p.Leu1697Val)
c.5059C>G (p.Leu1687Val)
n.1881C>G
c.4954C>G (p.Leu1652Val)
c.5017C>G (p.Leu1673Val)
c.4957C>G (p.Leu1653Val)
c.5155C>G (p.Leu1719Val)
c.5152C>G (p.Leu1718Val)
n.5313C>G
2g.71664377C>TCA49766973DYSFc.2527C>T (p.Leu843=)
c.1744C>T (p.Leu582=)
c.1852C>T (p.Leu618=)
c.4996C>T (p.Leu1666=)
c.5113C>T (p.Leu1705=)
c.4999C>T (p.Leu1667=)
c.5062C>T (p.Leu1688=)
c.5110C>T (p.Leu1704=)
c.5092C>T (p.Leu1698=)
c.5020C>T (p.Leu1674=)
c.5047C>T (p.Leu1683=)
c.5050C>T (p.Leu1684=)
c.5089C>T (p.Leu1697=)
c.5059C>T (p.Leu1687=)
n.1881C>T
c.4954C>T (p.Leu1652=)
c.5017C>T (p.Leu1673=)
c.4957C>T (p.Leu1653=)
c.5155C>T (p.Leu1719=)
c.5152C>T (p.Leu1718=)
n.5313C>T
 ClinVar dbSNP gnomAD v4
2g.71664378T>ACA347220484DYSFc.2528T>A (p.Leu843Gln)
c.1745T>A (p.Leu582Gln)
c.1853T>A (p.Leu618Gln)
c.4997T>A (p.Leu1666Gln)
c.5114T>A (p.Leu1705Gln)
c.5000T>A (p.Leu1667Gln)
c.5063T>A (p.Leu1688Gln)
c.5111T>A (p.Leu1704Gln)
c.5093T>A (p.Leu1698Gln)
c.5021T>A (p.Leu1674Gln)
c.5048T>A (p.Leu1683Gln)
c.5051T>A (p.Leu1684Gln)
c.5090T>A (p.Leu1697Gln)
c.5060T>A (p.Leu1687Gln)
n.1882T>A
c.4955T>A (p.Leu1652Gln)
c.5018T>A (p.Leu1673Gln)
c.4958T>A (p.Leu1653Gln)
c.5156T>A (p.Leu1719Gln)
c.5153T>A (p.Leu1718Gln)
n.5314T>A
2g.71664378T>CCA347220485DYSFc.2528T>C (p.Leu843Pro)
c.1745T>C (p.Leu582Pro)
c.1853T>C (p.Leu618Pro)
c.4997T>C (p.Leu1666Pro)
c.5114T>C (p.Leu1705Pro)
c.5000T>C (p.Leu1667Pro)
c.5063T>C (p.Leu1688Pro)
c.5111T>C (p.Leu1704Pro)
c.5093T>C (p.Leu1698Pro)
c.5021T>C (p.Leu1674Pro)
c.5048T>C (p.Leu1683Pro)
c.5051T>C (p.Leu1684Pro)
c.5090T>C (p.Leu1697Pro)
c.5060T>C (p.Leu1687Pro)
n.1882T>C
c.4955T>C (p.Leu1652Pro)
c.5018T>C (p.Leu1673Pro)
c.4958T>C (p.Leu1653Pro)
c.5156T>C (p.Leu1719Pro)
c.5153T>C (p.Leu1718Pro)
n.5314T>C
2g.71664378T>GCA347220486DYSFc.2528T>G (p.Leu843Arg)
c.1745T>G (p.Leu582Arg)
c.1853T>G (p.Leu618Arg)
c.4997T>G (p.Leu1666Arg)
c.5114T>G (p.Leu1705Arg)
c.5000T>G (p.Leu1667Arg)
c.5063T>G (p.Leu1688Arg)
c.5111T>G (p.Leu1704Arg)
c.5093T>G (p.Leu1698Arg)
c.5021T>G (p.Leu1674Arg)
c.5048T>G (p.Leu1683Arg)
c.5051T>G (p.Leu1684Arg)
c.5090T>G (p.Leu1697Arg)
c.5060T>G (p.Leu1687Arg)
n.1882T>G
c.4955T>G (p.Leu1652Arg)
c.5018T>G (p.Leu1673Arg)
c.4958T>G (p.Leu1653Arg)
c.5156T>G (p.Leu1719Arg)
c.5153T>G (p.Leu1718Arg)
n.5314T>G
2g.71664379G>ACA426703958DYSFc.2529G>A (p.Leu843=)
c.1746G>A (p.Leu582=)
c.1854G>A (p.Leu618=)
c.4998G>A (p.Leu1666=)
c.5115G>A (p.Leu1705=)
c.5001G>A (p.Leu1667=)
c.5064G>A (p.Leu1688=)
c.5112G>A (p.Leu1704=)
c.5094G>A (p.Leu1698=)
c.5022G>A (p.Leu1674=)
c.5049G>A (p.Leu1683=)
c.5052G>A (p.Leu1684=)
c.5091G>A (p.Leu1697=)
c.5061G>A (p.Leu1687=)
n.1883G>A
c.4956G>A (p.Leu1652=)
c.5019G>A (p.Leu1673=)
c.4959G>A (p.Leu1653=)
c.5157G>A (p.Leu1719=)
c.5154G>A (p.Leu1718=)
n.5315G>A
 gnomAD v4
2g.71664379G>CCA426703959DYSFc.2529G>C (p.Leu843=)
c.1746G>C (p.Leu582=)
c.1854G>C (p.Leu618=)
c.4998G>C (p.Leu1666=)
c.5115G>C (p.Leu1705=)
c.5001G>C (p.Leu1667=)
c.5064G>C (p.Leu1688=)
c.5112G>C (p.Leu1704=)
c.5094G>C (p.Leu1698=)
c.5022G>C (p.Leu1674=)
c.5049G>C (p.Leu1683=)
c.5052G>C (p.Leu1684=)
c.5091G>C (p.Leu1697=)
c.5061G>C (p.Leu1687=)
n.1883G>C
c.4956G>C (p.Leu1652=)
c.5019G>C (p.Leu1673=)
c.4959G>C (p.Leu1653=)
c.5157G>C (p.Leu1719=)
c.5154G>C (p.Leu1718=)
n.5315G>C
2g.71664379G>TCA426703960DYSFc.2529G>T (p.Leu843=)
c.1746G>T (p.Leu582=)
c.1854G>T (p.Leu618=)
c.4998G>T (p.Leu1666=)
c.5115G>T (p.Leu1705=)
c.5001G>T (p.Leu1667=)
c.5064G>T (p.Leu1688=)
c.5112G>T (p.Leu1704=)
c.5094G>T (p.Leu1698=)
c.5022G>T (p.Leu1674=)
c.5049G>T (p.Leu1683=)
c.5052G>T (p.Leu1684=)
c.5091G>T (p.Leu1697=)
c.5061G>T (p.Leu1687=)
n.1883G>T
c.4956G>T (p.Leu1652=)
c.5019G>T (p.Leu1673=)
c.4959G>T (p.Leu1653=)
c.5157G>T (p.Leu1719=)
c.5154G>T (p.Leu1718=)
n.5315G>T
2g.71664380G>ACA347220488DYSFc.2530G>A (p.Glu844Lys)
c.1747G>A (p.Glu583Lys)
c.1855G>A (p.Glu619Lys)
c.4999G>A (p.Glu1667Lys)
c.5116G>A (p.Glu1706Lys)
c.5002G>A (p.Glu1668Lys)
c.5065G>A (p.Glu1689Lys)
c.5113G>A (p.Glu1705Lys)
c.5095G>A (p.Glu1699Lys)
c.5023G>A (p.Glu1675Lys)
c.5050G>A (p.Glu1684Lys)
c.5053G>A (p.Glu1685Lys)
c.5092G>A (p.Glu1698Lys)
c.5062G>A (p.Glu1688Lys)
n.1884G>A
c.4957G>A (p.Glu1653Lys)
c.5020G>A (p.Glu1674Lys)
c.4960G>A (p.Glu1654Lys)
c.5158G>A (p.Glu1720Lys)
c.5155G>A (p.Glu1719Lys)
n.5316G>A
 COSMIC COSMIC
2g.71664380G>CCA347220490DYSFc.2530G>C (p.Glu844Gln)
c.1747G>C (p.Glu583Gln)
c.1855G>C (p.Glu619Gln)
c.4999G>C (p.Glu1667Gln)
c.5116G>C (p.Glu1706Gln)
c.5002G>C (p.Glu1668Gln)
c.5065G>C (p.Glu1689Gln)
c.5113G>C (p.Glu1705Gln)
c.5095G>C (p.Glu1699Gln)
c.5023G>C (p.Glu1675Gln)
c.5050G>C (p.Glu1684Gln)
c.5053G>C (p.Glu1685Gln)
c.5092G>C (p.Glu1698Gln)
c.5062G>C (p.Glu1688Gln)
n.1884G>C
c.4957G>C (p.Glu1653Gln)
c.5020G>C (p.Glu1674Gln)
c.4960G>C (p.Glu1654Gln)
c.5158G>C (p.Glu1720Gln)
c.5155G>C (p.Glu1719Gln)
n.5316G>C
2g.71664380G>TCA347220491DYSFc.2530G>T (p.Glu844Ter)
c.1747G>T (p.Glu583Ter)
c.1855G>T (p.Glu619Ter)
c.4999G>T (p.Glu1667Ter)
c.5116G>T (p.Glu1706Ter)
c.5002G>T (p.Glu1668Ter)
c.5065G>T (p.Glu1689Ter)
c.5113G>T (p.Glu1705Ter)
c.5095G>T (p.Glu1699Ter)
c.5023G>T (p.Glu1675Ter)
c.5050G>T (p.Glu1684Ter)
c.5053G>T (p.Glu1685Ter)
c.5092G>T (p.Glu1698Ter)
c.5062G>T (p.Glu1688Ter)
n.1884G>T
c.4957G>T (p.Glu1653Ter)
c.5020G>T (p.Glu1674Ter)
c.4960G>T (p.Glu1654Ter)
c.5158G>T (p.Glu1720Ter)
c.5155G>T (p.Glu1719Ter)
n.5316G>T
2g.71664381A>CCA347220493DYSFc.2531A>C (p.Glu844Ala)
c.1748A>C (p.Glu583Ala)
c.1856A>C (p.Glu619Ala)
c.5000A>C (p.Glu1667Ala)
c.5117A>C (p.Glu1706Ala)
c.5003A>C (p.Glu1668Ala)
c.5066A>C (p.Glu1689Ala)
c.5114A>C (p.Glu1705Ala)
c.5096A>C (p.Glu1699Ala)
c.5024A>C (p.Glu1675Ala)
c.5051A>C (p.Glu1684Ala)
c.5054A>C (p.Glu1685Ala)
c.5093A>C (p.Glu1698Ala)
c.5063A>C (p.Glu1688Ala)
n.1885A>C
c.4958A>C (p.Glu1653Ala)
c.5021A>C (p.Glu1674Ala)
c.4961A>C (p.Glu1654Ala)
c.5159A>C (p.Glu1720Ala)
c.5156A>C (p.Glu1719Ala)
n.5317A>C
2g.71664381A>GCA347220495DYSFc.2531A>G (p.Glu844Gly)
c.1748A>G (p.Glu583Gly)
c.1856A>G (p.Glu619Gly)
c.5000A>G (p.Glu1667Gly)
c.5117A>G (p.Glu1706Gly)
c.5003A>G (p.Glu1668Gly)
c.5066A>G (p.Glu1689Gly)
c.5114A>G (p.Glu1705Gly)
c.5096A>G (p.Glu1699Gly)
c.5024A>G (p.Glu1675Gly)
c.5051A>G (p.Glu1684Gly)
c.5054A>G (p.Glu1685Gly)
c.5093A>G (p.Glu1698Gly)
c.5063A>G (p.Glu1688Gly)
n.1885A>G
c.4958A>G (p.Glu1653Gly)
c.5021A>G (p.Glu1674Gly)
c.4961A>G (p.Glu1654Gly)
c.5159A>G (p.Glu1720Gly)
c.5156A>G (p.Glu1719Gly)
n.5317A>G
2g.71664381A>TCA347220497DYSFc.2531A>T (p.Glu844Val)
c.1748A>T (p.Glu583Val)
c.1856A>T (p.Glu619Val)
c.5000A>T (p.Glu1667Val)
c.5117A>T (p.Glu1706Val)
c.5003A>T (p.Glu1668Val)
c.5066A>T (p.Glu1689Val)
c.5114A>T (p.Glu1705Val)
c.5096A>T (p.Glu1699Val)
c.5024A>T (p.Glu1675Val)
c.5051A>T (p.Glu1684Val)
c.5054A>T (p.Glu1685Val)
c.5093A>T (p.Glu1698Val)
c.5063A>T (p.Glu1688Val)
n.1885A>T
c.4958A>T (p.Glu1653Val)
c.5021A>T (p.Glu1674Val)
c.4961A>T (p.Glu1654Val)
c.5159A>T (p.Glu1720Val)
c.5156A>T (p.Glu1719Val)
n.5317A>T
2g.71664382G>ACA426703961DYSFc.2532G>A (p.Glu844=)
c.1749G>A (p.Glu583=)
c.1857G>A (p.Glu619=)
c.5001G>A (p.Glu1667=)
c.5118G>A (p.Glu1706=)
c.5004G>A (p.Glu1668=)
c.5067G>A (p.Glu1689=)
c.5115G>A (p.Glu1705=)
c.5097G>A (p.Glu1699=)
c.5025G>A (p.Glu1675=)
c.5052G>A (p.Glu1684=)
c.5055G>A (p.Glu1685=)
c.5094G>A (p.Glu1698=)
c.5064G>A (p.Glu1688=)
n.1886G>A
c.4959G>A (p.Glu1653=)
c.5022G>A (p.Glu1674=)
c.4962G>A (p.Glu1654=)
c.5160G>A (p.Glu1720=)
c.5157G>A (p.Glu1719=)
n.5318G>A
 dbSNP
2g.71664382G>CCA347220498DYSFc.2532G>C (p.Glu844Asp)
c.1749G>C (p.Glu583Asp)
c.1857G>C (p.Glu619Asp)
c.5001G>C (p.Glu1667Asp)
c.5118G>C (p.Glu1706Asp)
c.5004G>C (p.Glu1668Asp)
c.5067G>C (p.Glu1689Asp)
c.5115G>C (p.Glu1705Asp)
c.5097G>C (p.Glu1699Asp)
c.5025G>C (p.Glu1675Asp)
c.5052G>C (p.Glu1684Asp)
c.5055G>C (p.Glu1685Asp)
c.5094G>C (p.Glu1698Asp)
c.5064G>C (p.Glu1688Asp)
n.1886G>C
c.4959G>C (p.Glu1653Asp)
c.5022G>C (p.Glu1674Asp)
c.4962G>C (p.Glu1654Asp)
c.5160G>C (p.Glu1720Asp)
c.5157G>C (p.Glu1719Asp)
n.5318G>C
2g.71664382G>TCA347220500DYSFc.2532G>T (p.Glu844Asp)
c.1749G>T (p.Glu583Asp)
c.1857G>T (p.Glu619Asp)
c.5001G>T (p.Glu1667Asp)
c.5118G>T (p.Glu1706Asp)
c.5004G>T (p.Glu1668Asp)
c.5067G>T (p.Glu1689Asp)
c.5115G>T (p.Glu1705Asp)
c.5097G>T (p.Glu1699Asp)
c.5025G>T (p.Glu1675Asp)
c.5052G>T (p.Glu1684Asp)
c.5055G>T (p.Glu1685Asp)
c.5094G>T (p.Glu1698Asp)
c.5064G>T (p.Glu1688Asp)
n.1886G>T
c.4959G>T (p.Glu1653Asp)
c.5022G>T (p.Glu1674Asp)
c.4962G>T (p.Glu1654Asp)
c.5160G>T (p.Glu1720Asp)
c.5157G>T (p.Glu1719Asp)
n.5318G>T
2g.71664383A=CA1260149779DYSFc.2533A= (p.Asn845=)
c.1750A= (p.Asn584=)
c.1858A= (p.Asn620=)
c.5002A= (p.Asn1668=)
c.5119A= (p.Asn1707=)
c.5005A= (p.Asn1669=)
c.5068A= (p.Asn1690=)
c.5116A= (p.Asn1706=)
c.5098A= (p.Asn1700=)
c.5026A= (p.Asn1676=)
c.5053A= (p.Asn1685=)
c.5056A= (p.Asn1686=)
c.5095A= (p.Asn1699=)
c.5065A= (p.Asn1689=)
n.1887A=
c.4960A= (p.Asn1654=)
c.5023A= (p.Asn1675=)
c.4963A= (p.Asn1655=)
c.5161A= (p.Asn1721=)
c.5158A= (p.Asn1720=)
n.5319A=
2g.71664383A>CCA347220504DYSFc.2533A>C (p.Asn845His)
c.1750A>C (p.Asn584His)
c.1858A>C (p.Asn620His)
c.5002A>C (p.Asn1668His)
c.5119A>C (p.Asn1707His)
c.5005A>C (p.Asn1669His)
c.5068A>C (p.Asn1690His)
c.5116A>C (p.Asn1706His)
c.5098A>C (p.Asn1700His)
c.5026A>C (p.Asn1676His)
c.5053A>C (p.Asn1685His)
c.5056A>C (p.Asn1686His)
c.5095A>C (p.Asn1699His)
c.5065A>C (p.Asn1689His)
n.1887A>C
c.4960A>C (p.Asn1654His)
c.5023A>C (p.Asn1675His)
c.4963A>C (p.Asn1655His)
c.5161A>C (p.Asn1721His)
c.5158A>C (p.Asn1720His)
n.5319A>C
2g.71664383A>GCA49766975DYSFc.2533A>G (p.Asn845Asp)
c.1750A>G (p.Asn584Asp)
c.1858A>G (p.Asn620Asp)
c.5002A>G (p.Asn1668Asp)
c.5119A>G (p.Asn1707Asp)
c.5005A>G (p.Asn1669Asp)
c.5068A>G (p.Asn1690Asp)
c.5116A>G (p.Asn1706Asp)
c.5098A>G (p.Asn1700Asp)
c.5026A>G (p.Asn1676Asp)
c.5053A>G (p.Asn1685Asp)
c.5056A>G (p.Asn1686Asp)
c.5095A>G (p.Asn1699Asp)
c.5065A>G (p.Asn1689Asp)
n.1887A>G
c.4960A>G (p.Asn1654Asp)
c.5023A>G (p.Asn1675Asp)
c.4963A>G (p.Asn1655Asp)
c.5161A>G (p.Asn1721Asp)
c.5158A>G (p.Asn1720Asp)
n.5319A>G
 dbSNP
2g.71664383A>TCA347220502DYSFc.2533A>T (p.Asn845Tyr)
c.1750A>T (p.Asn584Tyr)
c.1858A>T (p.Asn620Tyr)
c.5002A>T (p.Asn1668Tyr)
c.5119A>T (p.Asn1707Tyr)
c.5005A>T (p.Asn1669Tyr)
c.5068A>T (p.Asn1690Tyr)
c.5116A>T (p.Asn1706Tyr)
c.5098A>T (p.Asn1700Tyr)
c.5026A>T (p.Asn1676Tyr)
c.5053A>T (p.Asn1685Tyr)
c.5056A>T (p.Asn1686Tyr)
c.5095A>T (p.Asn1699Tyr)
c.5065A>T (p.Asn1689Tyr)
n.1887A>T
c.4960A>T (p.Asn1654Tyr)
c.5023A>T (p.Asn1675Tyr)
c.4963A>T (p.Asn1655Tyr)
c.5161A>T (p.Asn1721Tyr)
c.5158A>T (p.Asn1720Tyr)
n.5319A>T
2g.71664384A>CCA347220505DYSFc.2534A>C (p.Asn845Thr)
c.1751A>C (p.Asn584Thr)
c.1859A>C (p.Asn620Thr)
c.5003A>C (p.Asn1668Thr)
c.5120A>C (p.Asn1707Thr)
c.5006A>C (p.Asn1669Thr)
c.5069A>C (p.Asn1690Thr)
c.5117A>C (p.Asn1706Thr)
c.5099A>C (p.Asn1700Thr)
c.5027A>C (p.Asn1676Thr)
c.5054A>C (p.Asn1685Thr)
c.5057A>C (p.Asn1686Thr)
c.5096A>C (p.Asn1699Thr)
c.5066A>C (p.Asn1689Thr)
n.1888A>C
c.4961A>C (p.Asn1654Thr)
c.5024A>C (p.Asn1675Thr)
c.4964A>C (p.Asn1655Thr)
c.5162A>C (p.Asn1721Thr)
c.5159A>C (p.Asn1720Thr)
n.5320A>C
2g.71664384A>GCA347220507DYSFc.2534A>G (p.Asn845Ser)
c.1751A>G (p.Asn584Ser)
c.1859A>G (p.Asn620Ser)
c.5003A>G (p.Asn1668Ser)
c.5120A>G (p.Asn1707Ser)
c.5006A>G (p.Asn1669Ser)
c.5069A>G (p.Asn1690Ser)
c.5117A>G (p.Asn1706Ser)
c.5099A>G (p.Asn1700Ser)
c.5027A>G (p.Asn1676Ser)
c.5054A>G (p.Asn1685Ser)
c.5057A>G (p.Asn1686Ser)
c.5096A>G (p.Asn1699Ser)
c.5066A>G (p.Asn1689Ser)
n.1888A>G
c.4961A>G (p.Asn1654Ser)
c.5024A>G (p.Asn1675Ser)
c.4964A>G (p.Asn1655Ser)
c.5162A>G (p.Asn1721Ser)
c.5159A>G (p.Asn1720Ser)
n.5320A>G
2g.71664384A>TCA347220509DYSFc.2534A>T (p.Asn845Ile)
c.1751A>T (p.Asn584Ile)
c.1859A>T (p.Asn620Ile)
c.5003A>T (p.Asn1668Ile)
c.5120A>T (p.Asn1707Ile)
c.5006A>T (p.Asn1669Ile)
c.5069A>T (p.Asn1690Ile)
c.5117A>T (p.Asn1706Ile)
c.5099A>T (p.Asn1700Ile)
c.5027A>T (p.Asn1676Ile)
c.5054A>T (p.Asn1685Ile)
c.5057A>T (p.Asn1686Ile)
c.5096A>T (p.Asn1699Ile)
c.5066A>T (p.Asn1689Ile)
n.1888A>T
c.4961A>T (p.Asn1654Ile)
c.5024A>T (p.Asn1675Ile)
c.4964A>T (p.Asn1655Ile)
c.5162A>T (p.Asn1721Ile)
c.5159A>T (p.Asn1720Ile)
n.5320A>T
2g.71664385C>ACA347220510DYSFc.2535C>A (p.Asn845Lys)
c.1752C>A (p.Asn584Lys)
c.1860C>A (p.Asn620Lys)
c.5004C>A (p.Asn1668Lys)
c.5121C>A (p.Asn1707Lys)
c.5007C>A (p.Asn1669Lys)
c.5070C>A (p.Asn1690Lys)
c.5118C>A (p.Asn1706Lys)
c.5100C>A (p.Asn1700Lys)
c.5028C>A (p.Asn1676Lys)
c.5055C>A (p.Asn1685Lys)
c.5058C>A (p.Asn1686Lys)
c.5097C>A (p.Asn1699Lys)
c.5067C>A (p.Asn1689Lys)
n.1889C>A
c.4962C>A (p.Asn1654Lys)
c.5025C>A (p.Asn1675Lys)
c.4965C>A (p.Asn1655Lys)
c.5163C>A (p.Asn1721Lys)
c.5160C>A (p.Asn1720Lys)
n.5321C>A
2g.71664385C>GCA347220511DYSFc.2535C>G (p.Asn845Lys)
c.1752C>G (p.Asn584Lys)
c.1860C>G (p.Asn620Lys)
c.5004C>G (p.Asn1668Lys)
c.5121C>G (p.Asn1707Lys)
c.5007C>G (p.Asn1669Lys)
c.5070C>G (p.Asn1690Lys)
c.5118C>G (p.Asn1706Lys)
c.5100C>G (p.Asn1700Lys)
c.5028C>G (p.Asn1676Lys)
c.5055C>G (p.Asn1685Lys)
c.5058C>G (p.Asn1686Lys)
c.5097C>G (p.Asn1699Lys)
c.5067C>G (p.Asn1689Lys)
n.1889C>G
c.4962C>G (p.Asn1654Lys)
c.5025C>G (p.Asn1675Lys)
c.4965C>G (p.Asn1655Lys)
c.5163C>G (p.Asn1721Lys)
c.5160C>G (p.Asn1720Lys)
n.5321C>G
2g.71664385C>TCA426703962DYSFc.2535C>T (p.Asn845=)
c.1752C>T (p.Asn584=)
c.1860C>T (p.Asn620=)
c.5004C>T (p.Asn1668=)
c.5121C>T (p.Asn1707=)
c.5007C>T (p.Asn1669=)
c.5070C>T (p.Asn1690=)
c.5118C>T (p.Asn1706=)
c.5100C>T (p.Asn1700=)
c.5028C>T (p.Asn1676=)
c.5055C>T (p.Asn1685=)
c.5058C>T (p.Asn1686=)
c.5097C>T (p.Asn1699=)
c.5067C>T (p.Asn1689=)
n.1889C>T
c.4962C>T (p.Asn1654=)
c.5025C>T (p.Asn1675=)
c.4965C>T (p.Asn1655=)
c.5163C>T (p.Asn1721=)
c.5160C>T (p.Asn1720=)
n.5321C>T
2g.71664386A>CCA426703963DYSFc.2536A>C (p.Arg846=)
c.1753A>C (p.Arg585=)
c.1861A>C (p.Arg621=)
c.5005A>C (p.Arg1669=)
c.5122A>C (p.Arg1708=)
c.5008A>C (p.Arg1670=)
c.5071A>C (p.Arg1691=)
c.5119A>C (p.Arg1707=)
c.5101A>C (p.Arg1701=)
c.5029A>C (p.Arg1677=)
c.5056A>C (p.Arg1686=)
c.5059A>C (p.Arg1687=)
c.5098A>C (p.Arg1700=)
c.5068A>C (p.Arg1690=)
n.1890A>C
c.4963A>C (p.Arg1655=)
c.5026A>C (p.Arg1676=)
c.4966A>C (p.Arg1656=)
c.5164A>C (p.Arg1722=)
c.5161A>C (p.Arg1721=)
n.5322A>C
2g.71664386A>GCA347220512DYSFc.2536A>G (p.Arg846Gly)
c.1753A>G (p.Arg585Gly)
c.1861A>G (p.Arg621Gly)
c.5005A>G (p.Arg1669Gly)
c.5122A>G (p.Arg1708Gly)
c.5008A>G (p.Arg1670Gly)
c.5071A>G (p.Arg1691Gly)
c.5119A>G (p.Arg1707Gly)
c.5101A>G (p.Arg1701Gly)
c.5029A>G (p.Arg1677Gly)
c.5056A>G (p.Arg1686Gly)
c.5059A>G (p.Arg1687Gly)
c.5098A>G (p.Arg1700Gly)
c.5068A>G (p.Arg1690Gly)
n.1890A>G
c.4963A>G (p.Arg1655Gly)
c.5026A>G (p.Arg1676Gly)
c.4966A>G (p.Arg1656Gly)
c.5164A>G (p.Arg1722Gly)
c.5161A>G (p.Arg1721Gly)
n.5322A>G
2g.71664386A>TCA347220513DYSFc.2536A>T (p.Arg846Trp)
c.1753A>T (p.Arg585Trp)
c.1861A>T (p.Arg621Trp)
c.5005A>T (p.Arg1669Trp)
c.5122A>T (p.Arg1708Trp)
c.5008A>T (p.Arg1670Trp)
c.5071A>T (p.Arg1691Trp)
c.5119A>T (p.Arg1707Trp)
c.5101A>T (p.Arg1701Trp)
c.5029A>T (p.Arg1677Trp)
c.5056A>T (p.Arg1686Trp)
c.5059A>T (p.Arg1687Trp)
c.5098A>T (p.Arg1700Trp)
c.5068A>T (p.Arg1690Trp)
n.1890A>T
c.4963A>T (p.Arg1655Trp)
c.5026A>T (p.Arg1676Trp)
c.4966A>T (p.Arg1656Trp)
c.5164A>T (p.Arg1722Trp)
c.5161A>T (p.Arg1721Trp)
n.5322A>T
2g.71664387G>ACA347220515DYSFc.2537G>A (p.Arg846Lys)
c.1754G>A (p.Arg585Lys)
c.1862G>A (p.Arg621Lys)
c.5006G>A (p.Arg1669Lys)
c.5123G>A (p.Arg1708Lys)
c.5009G>A (p.Arg1670Lys)
c.5072G>A (p.Arg1691Lys)
c.5120G>A (p.Arg1707Lys)
c.5102G>A (p.Arg1701Lys)
c.5030G>A (p.Arg1677Lys)
c.5057G>A (p.Arg1686Lys)
c.5060G>A (p.Arg1687Lys)
c.5099G>A (p.Arg1700Lys)
c.5069G>A (p.Arg1690Lys)
n.1891G>A
c.4964G>A (p.Arg1655Lys)
c.5027G>A (p.Arg1676Lys)
c.4967G>A (p.Arg1656Lys)
c.5165G>A (p.Arg1722Lys)
c.5162G>A (p.Arg1721Lys)
n.5323G>A
2g.71664387G>CCA347220517DYSFc.2537G>C (p.Arg846Thr)
c.1754G>C (p.Arg585Thr)
c.1862G>C (p.Arg621Thr)
c.5006G>C (p.Arg1669Thr)
c.5123G>C (p.Arg1708Thr)
c.5009G>C (p.Arg1670Thr)
c.5072G>C (p.Arg1691Thr)
c.5120G>C (p.Arg1707Thr)
c.5102G>C (p.Arg1701Thr)
c.5030G>C (p.Arg1677Thr)
c.5057G>C (p.Arg1686Thr)
c.5060G>C (p.Arg1687Thr)
c.5099G>C (p.Arg1700Thr)
c.5069G>C (p.Arg1690Thr)
n.1891G>C
c.4964G>C (p.Arg1655Thr)
c.5027G>C (p.Arg1676Thr)
c.4967G>C (p.Arg1656Thr)
c.5165G>C (p.Arg1722Thr)
c.5162G>C (p.Arg1721Thr)
n.5323G>C
2g.71664387G>TCA347220519DYSFc.2537G>T (p.Arg846Met)
c.1754G>T (p.Arg585Met)
c.1862G>T (p.Arg621Met)
c.5006G>T (p.Arg1669Met)
c.5123G>T (p.Arg1708Met)
c.5009G>T (p.Arg1670Met)
c.5072G>T (p.Arg1691Met)
c.5120G>T (p.Arg1707Met)
c.5102G>T (p.Arg1701Met)
c.5030G>T (p.Arg1677Met)
c.5057G>T (p.Arg1686Met)
c.5060G>T (p.Arg1687Met)
c.5099G>T (p.Arg1700Met)
c.5069G>T (p.Arg1690Met)
n.1891G>T
c.4964G>T (p.Arg1655Met)
c.5027G>T (p.Arg1676Met)
c.4967G>T (p.Arg1656Met)
c.5165G>T (p.Arg1722Met)
c.5162G>T (p.Arg1721Met)
n.5323G>T
2g.71664388G>ACA426703964DYSFc.2538G>A (p.Arg846=)
c.1755G>A (p.Arg585=)
c.1863G>A (p.Arg621=)
c.5007G>A (p.Arg1669=)
c.5124G>A (p.Arg1708=)
c.5010G>A (p.Arg1670=)
c.5073G>A (p.Arg1691=)
c.5121G>A (p.Arg1707=)
c.5103G>A (p.Arg1701=)
c.5031G>A (p.Arg1677=)
c.5058G>A (p.Arg1686=)
c.5061G>A (p.Arg1687=)
c.5100G>A (p.Arg1700=)
c.5070G>A (p.Arg1690=)
n.1892G>A
c.4965G>A (p.Arg1655=)
c.5028G>A (p.Arg1676=)
c.4968G>A (p.Arg1656=)
c.5166G>A (p.Arg1722=)
c.5163G>A (p.Arg1721=)
n.5324G>A
 ClinVar gnomAD v4
2g.71664388G>CCA347220521DYSFc.2538G>C (p.Arg846Ser)
c.1755G>C (p.Arg585Ser)
c.1863G>C (p.Arg621Ser)
c.5007G>C (p.Arg1669Ser)
c.5124G>C (p.Arg1708Ser)
c.5010G>C (p.Arg1670Ser)
c.5073G>C (p.Arg1691Ser)
c.5121G>C (p.Arg1707Ser)
c.5103G>C (p.Arg1701Ser)
c.5031G>C (p.Arg1677Ser)
c.5058G>C (p.Arg1686Ser)
c.5061G>C (p.Arg1687Ser)
c.5100G>C (p.Arg1700Ser)
c.5070G>C (p.Arg1690Ser)
n.1892G>C
c.4965G>C (p.Arg1655Ser)
c.5028G>C (p.Arg1676Ser)
c.4968G>C (p.Arg1656Ser)
c.5166G>C (p.Arg1722Ser)
c.5163G>C (p.Arg1721Ser)
n.5324G>C
2g.71664388G=CA1260149780DYSFc.2538G= (p.Arg846=)
c.1755G= (p.Arg585=)
c.1863G= (p.Arg621=)
c.5007G= (p.Arg1669=)
c.5124G= (p.Arg1708=)
c.5010G= (p.Arg1670=)
c.5073G= (p.Arg1691=)
c.5121G= (p.Arg1707=)
c.5103G= (p.Arg1701=)
c.5031G= (p.Arg1677=)
c.5058G= (p.Arg1686=)
c.5061G= (p.Arg1687=)
c.5100G= (p.Arg1700=)
c.5070G= (p.Arg1690=)
n.1892G=
c.4965G= (p.Arg1655=)
c.5028G= (p.Arg1676=)
c.4968G= (p.Arg1656=)
c.5166G= (p.Arg1722=)
c.5163G= (p.Arg1721=)
n.5324G=
2g.71664388G>TCA347220522DYSFc.2538G>T (p.Arg846Ser)
c.1755G>T (p.Arg585Ser)
c.1863G>T (p.Arg621Ser)
c.5007G>T (p.Arg1669Ser)
c.5124G>T (p.Arg1708Ser)
c.5010G>T (p.Arg1670Ser)
c.5073G>T (p.Arg1691Ser)
c.5121G>T (p.Arg1707Ser)
c.5103G>T (p.Arg1701Ser)
c.5031G>T (p.Arg1677Ser)
c.5058G>T (p.Arg1686Ser)
c.5061G>T (p.Arg1687Ser)
c.5100G>T (p.Arg1700Ser)
c.5070G>T (p.Arg1690Ser)
n.1892G>T
c.4965G>T (p.Arg1655Ser)
c.5028G>T (p.Arg1676Ser)
c.4968G>T (p.Arg1656Ser)
c.5166G>T (p.Arg1722Ser)
c.5163G>T (p.Arg1721Ser)
n.5324G>T
 dbSNP
2g.71664389C>ACA347220527DYSFc.2539C>A (p.Leu847Met)
c.1756C>A (p.Leu586Met)
c.1864C>A (p.Leu622Met)
c.5008C>A (p.Leu1670Met)
c.5125C>A (p.Leu1709Met)
c.5011C>A (p.Leu1671Met)
c.5074C>A (p.Leu1692Met)
c.5122C>A (p.Leu1708Met)
c.5104C>A (p.Leu1702Met)
c.5032C>A (p.Leu1678Met)
c.5059C>A (p.Leu1687Met)
c.5062C>A (p.Leu1688Met)
c.5101C>A (p.Leu1701Met)
c.5071C>A (p.Leu1691Met)
n.1893C>A
c.4966C>A (p.Leu1656Met)
c.5029C>A (p.Leu1677Met)
c.4969C>A (p.Leu1657Met)
c.5167C>A (p.Leu1723Met)
c.5164C>A (p.Leu1722Met)
n.5325C>A
2g.71664389C>GCA347220525DYSFc.2539C>G (p.Leu847Val)
c.1756C>G (p.Leu586Val)
c.1864C>G (p.Leu622Val)
c.5008C>G (p.Leu1670Val)
c.5125C>G (p.Leu1709Val)
c.5011C>G (p.Leu1671Val)
c.5074C>G (p.Leu1692Val)
c.5122C>G (p.Leu1708Val)
c.5104C>G (p.Leu1702Val)
c.5032C>G (p.Leu1678Val)
c.5059C>G (p.Leu1687Val)
c.5062C>G (p.Leu1688Val)
c.5101C>G (p.Leu1701Val)
c.5071C>G (p.Leu1691Val)
n.1893C>G
c.4966C>G (p.Leu1656Val)
c.5029C>G (p.Leu1677Val)
c.4969C>G (p.Leu1657Val)
c.5167C>G (p.Leu1723Val)
c.5164C>G (p.Leu1722Val)
n.5325C>G
2g.71664389C>TCA426703965DYSFc.2539C>T (p.Leu847=)
c.1756C>T (p.Leu586=)
c.1864C>T (p.Leu622=)
c.5008C>T (p.Leu1670=)
c.5125C>T (p.Leu1709=)
c.5011C>T (p.Leu1671=)
c.5074C>T (p.Leu1692=)
c.5122C>T (p.Leu1708=)
c.5104C>T (p.Leu1702=)
c.5032C>T (p.Leu1678=)
c.5059C>T (p.Leu1687=)
c.5062C>T (p.Leu1688=)
c.5101C>T (p.Leu1701=)
c.5071C>T (p.Leu1691=)
n.1893C>T
c.4966C>T (p.Leu1656=)
c.5029C>T (p.Leu1677=)
c.4969C>T (p.Leu1657=)
c.5167C>T (p.Leu1723=)
c.5164C>T (p.Leu1722=)
n.5325C>T
2g.71664390T>ACA347220528DYSFc.2540T>A (p.Leu847Gln)
c.1757T>A (p.Leu586Gln)
c.1865T>A (p.Leu622Gln)
c.5009T>A (p.Leu1670Gln)
c.5126T>A (p.Leu1709Gln)
c.5012T>A (p.Leu1671Gln)
c.5075T>A (p.Leu1692Gln)
c.5123T>A (p.Leu1708Gln)
c.5105T>A (p.Leu1702Gln)
c.5033T>A (p.Leu1678Gln)
c.5060T>A (p.Leu1687Gln)
c.5063T>A (p.Leu1688Gln)
c.5102T>A (p.Leu1701Gln)
c.5072T>A (p.Leu1691Gln)
n.1894T>A
c.4967T>A (p.Leu1656Gln)
c.5030T>A (p.Leu1677Gln)
c.4970T>A (p.Leu1657Gln)
c.5168T>A (p.Leu1723Gln)
c.5165T>A (p.Leu1722Gln)
n.5326T>A
2g.71664390T>CCA347220530DYSFc.2540T>C (p.Leu847Pro)
c.1757T>C (p.Leu586Pro)
c.1865T>C (p.Leu622Pro)
c.5009T>C (p.Leu1670Pro)
c.5126T>C (p.Leu1709Pro)
c.5012T>C (p.Leu1671Pro)
c.5075T>C (p.Leu1692Pro)
c.5123T>C (p.Leu1708Pro)
c.5105T>C (p.Leu1702Pro)
c.5033T>C (p.Leu1678Pro)
c.5060T>C (p.Leu1687Pro)
c.5063T>C (p.Leu1688Pro)
c.5102T>C (p.Leu1701Pro)
c.5072T>C (p.Leu1691Pro)
n.1894T>C
c.4967T>C (p.Leu1656Pro)
c.5030T>C (p.Leu1677Pro)
c.4970T>C (p.Leu1657Pro)
c.5168T>C (p.Leu1723Pro)
c.5165T>C (p.Leu1722Pro)
n.5326T>C
2g.71664390T>GCA347220531DYSFc.2540T>G (p.Leu847Arg)
c.1757T>G (p.Leu586Arg)
c.1865T>G (p.Leu622Arg)
c.5009T>G (p.Leu1670Arg)
c.5126T>G (p.Leu1709Arg)
c.5012T>G (p.Leu1671Arg)
c.5075T>G (p.Leu1692Arg)
c.5123T>G (p.Leu1708Arg)
c.5105T>G (p.Leu1702Arg)
c.5033T>G (p.Leu1678Arg)
c.5060T>G (p.Leu1687Arg)
c.5063T>G (p.Leu1688Arg)
c.5102T>G (p.Leu1701Arg)
c.5072T>G (p.Leu1691Arg)
n.1894T>G
c.4967T>G (p.Leu1656Arg)
c.5030T>G (p.Leu1677Arg)
c.4970T>G (p.Leu1657Arg)
c.5168T>G (p.Leu1723Arg)
c.5165T>G (p.Leu1722Arg)
n.5326T>G
2g.71664391G>ACA1707251DYSFc.2541G>A (p.Leu847=)
c.1758G>A (p.Leu586=)
c.1866G>A (p.Leu622=)
c.5010G>A (p.Leu1670=)
c.5127G>A (p.Leu1709=)
c.5013G>A (p.Leu1671=)
c.5076G>A (p.Leu1692=)
c.5124G>A (p.Leu1708=)
c.5106G>A (p.Leu1702=)
c.5034G>A (p.Leu1678=)
c.5061G>A (p.Leu1687=)
c.5064G>A (p.Leu1688=)
c.5103G>A (p.Leu1701=)
c.5073G>A (p.Leu1691=)
n.1895G>A
c.4968G>A (p.Leu1656=)
c.5031G>A (p.Leu1677=)
c.4971G>A (p.Leu1657=)
c.5169G>A (p.Leu1723=)
c.5166G>A (p.Leu1722=)
n.5327G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664391G>CCA426703966DYSFc.2541G>C (p.Leu847=)
c.1758G>C (p.Leu586=)
c.1866G>C (p.Leu622=)
c.5010G>C (p.Leu1670=)
c.5127G>C (p.Leu1709=)
c.5013G>C (p.Leu1671=)
c.5076G>C (p.Leu1692=)
c.5124G>C (p.Leu1708=)
c.5106G>C (p.Leu1702=)
c.5034G>C (p.Leu1678=)
c.5061G>C (p.Leu1687=)
c.5064G>C (p.Leu1688=)
c.5103G>C (p.Leu1701=)
c.5073G>C (p.Leu1691=)
n.1895G>C
c.4968G>C (p.Leu1656=)
c.5031G>C (p.Leu1677=)
c.4971G>C (p.Leu1657=)
c.5169G>C (p.Leu1723=)
c.5166G>C (p.Leu1722=)
n.5327G>C
2g.71664391G=CA1260149781DYSFc.2541G= (p.Leu847=)
c.1758G= (p.Leu586=)
c.1866G= (p.Leu622=)
c.5010G= (p.Leu1670=)
c.5127G= (p.Leu1709=)
c.5013G= (p.Leu1671=)
c.5076G= (p.Leu1692=)
c.5124G= (p.Leu1708=)
c.5106G= (p.Leu1702=)
c.5034G= (p.Leu1678=)
c.5061G= (p.Leu1687=)
c.5064G= (p.Leu1688=)
c.5103G= (p.Leu1701=)
c.5073G= (p.Leu1691=)
n.1895G=
c.4968G= (p.Leu1656=)
c.5031G= (p.Leu1677=)
c.4971G= (p.Leu1657=)
c.5169G= (p.Leu1723=)
c.5166G= (p.Leu1722=)
n.5327G=
2g.71664391G>TCA426703967DYSFc.2541G>T (p.Leu847=)
c.1758G>T (p.Leu586=)
c.1866G>T (p.Leu622=)
c.5010G>T (p.Leu1670=)
c.5127G>T (p.Leu1709=)
c.5013G>T (p.Leu1671=)
c.5076G>T (p.Leu1692=)
c.5124G>T (p.Leu1708=)
c.5106G>T (p.Leu1702=)
c.5034G>T (p.Leu1678=)
c.5061G>T (p.Leu1687=)
c.5064G>T (p.Leu1688=)
c.5103G>T (p.Leu1701=)
c.5073G>T (p.Leu1691=)
n.1895G>T
c.4968G>T (p.Leu1656=)
c.5031G>T (p.Leu1677=)
c.4971G>T (p.Leu1657=)
c.5169G>T (p.Leu1723=)
c.5166G>T (p.Leu1722=)
n.5327G>T
 gnomAD v4
2g.71664392C>ACA347220533DYSFc.2542C>A (p.Leu848Met)
c.1759C>A (p.Leu587Met)
c.1867C>A (p.Leu623Met)
c.5011C>A (p.Leu1671Met)
c.5128C>A (p.Leu1710Met)
c.5014C>A (p.Leu1672Met)
c.5077C>A (p.Leu1693Met)
c.5125C>A (p.Leu1709Met)
c.5107C>A (p.Leu1703Met)
c.5035C>A (p.Leu1679Met)
c.5062C>A (p.Leu1688Met)
c.5065C>A (p.Leu1689Met)
c.5104C>A (p.Leu1702Met)
c.5074C>A (p.Leu1692Met)
n.1896C>A
c.4969C>A (p.Leu1657Met)
c.5032C>A (p.Leu1678Met)
c.4972C>A (p.Leu1658Met)
c.5170C>A (p.Leu1724Met)
c.5167C>A (p.Leu1723Met)
n.5328C>A
 gnomAD v4
2g.71664392C>GCA347220534DYSFc.2542C>G (p.Leu848Val)
c.1759C>G (p.Leu587Val)
c.1867C>G (p.Leu623Val)
c.5011C>G (p.Leu1671Val)
c.5128C>G (p.Leu1710Val)
c.5014C>G (p.Leu1672Val)
c.5077C>G (p.Leu1693Val)
c.5125C>G (p.Leu1709Val)
c.5107C>G (p.Leu1703Val)
c.5035C>G (p.Leu1679Val)
c.5062C>G (p.Leu1688Val)
c.5065C>G (p.Leu1689Val)
c.5104C>G (p.Leu1702Val)
c.5074C>G (p.Leu1692Val)
n.1896C>G
c.4969C>G (p.Leu1657Val)
c.5032C>G (p.Leu1678Val)
c.4972C>G (p.Leu1658Val)
c.5170C>G (p.Leu1724Val)
c.5167C>G (p.Leu1723Val)
n.5328C>G
2g.71664392C>TCA426703968DYSFc.2542C>T (p.Leu848=)
c.1759C>T (p.Leu587=)
c.1867C>T (p.Leu623=)
c.5011C>T (p.Leu1671=)
c.5128C>T (p.Leu1710=)
c.5014C>T (p.Leu1672=)
c.5077C>T (p.Leu1693=)
c.5125C>T (p.Leu1709=)
c.5107C>T (p.Leu1703=)
c.5035C>T (p.Leu1679=)
c.5062C>T (p.Leu1688=)
c.5065C>T (p.Leu1689=)
c.5104C>T (p.Leu1702=)
c.5074C>T (p.Leu1692=)
n.1896C>T
c.4969C>T (p.Leu1657=)
c.5032C>T (p.Leu1678=)
c.4972C>T (p.Leu1658=)
c.5170C>T (p.Leu1724=)
c.5167C>T (p.Leu1723=)
n.5328C>T
 gnomAD v4
2g.71664393T>ACA347220535DYSFc.2543T>A (p.Leu848Gln)
c.1760T>A (p.Leu587Gln)
c.1868T>A (p.Leu623Gln)
c.5012T>A (p.Leu1671Gln)
c.5129T>A (p.Leu1710Gln)
c.5015T>A (p.Leu1672Gln)
c.5078T>A (p.Leu1693Gln)
c.5126T>A (p.Leu1709Gln)
c.5108T>A (p.Leu1703Gln)
c.5036T>A (p.Leu1679Gln)
c.5063T>A (p.Leu1688Gln)
c.5066T>A (p.Leu1689Gln)
c.5105T>A (p.Leu1702Gln)
c.5075T>A (p.Leu1692Gln)
n.1897T>A
c.4970T>A (p.Leu1657Gln)
c.5033T>A (p.Leu1678Gln)
c.4973T>A (p.Leu1658Gln)
c.5171T>A (p.Leu1724Gln)
c.5168T>A (p.Leu1723Gln)
n.5329T>A
2g.71664393T>CCA347220536DYSFc.2543T>C (p.Leu848Pro)
c.1760T>C (p.Leu587Pro)
c.1868T>C (p.Leu623Pro)
c.5012T>C (p.Leu1671Pro)
c.5129T>C (p.Leu1710Pro)
c.5015T>C (p.Leu1672Pro)
c.5078T>C (p.Leu1693Pro)
c.5126T>C (p.Leu1709Pro)
c.5108T>C (p.Leu1703Pro)
c.5036T>C (p.Leu1679Pro)
c.5063T>C (p.Leu1688Pro)
c.5066T>C (p.Leu1689Pro)
c.5105T>C (p.Leu1702Pro)
c.5075T>C (p.Leu1692Pro)
n.1897T>C
c.4970T>C (p.Leu1657Pro)
c.5033T>C (p.Leu1678Pro)
c.4973T>C (p.Leu1658Pro)
c.5171T>C (p.Leu1724Pro)
c.5168T>C (p.Leu1723Pro)
n.5329T>C
2g.71664393T>GCA347220538DYSFc.2543T>G (p.Leu848Arg)
c.1760T>G (p.Leu587Arg)
c.1868T>G (p.Leu623Arg)
c.5012T>G (p.Leu1671Arg)
c.5129T>G (p.Leu1710Arg)
c.5015T>G (p.Leu1672Arg)
c.5078T>G (p.Leu1693Arg)
c.5126T>G (p.Leu1709Arg)
c.5108T>G (p.Leu1703Arg)
c.5036T>G (p.Leu1679Arg)
c.5063T>G (p.Leu1688Arg)
c.5066T>G (p.Leu1689Arg)
c.5105T>G (p.Leu1702Arg)
c.5075T>G (p.Leu1692Arg)
n.1897T>G
c.4970T>G (p.Leu1657Arg)
c.5033T>G (p.Leu1678Arg)
c.4973T>G (p.Leu1658Arg)
c.5171T>G (p.Leu1724Arg)
c.5168T>G (p.Leu1723Arg)
n.5329T>G
2g.71664394G>ACA426703969DYSFc.2544G>A (p.Leu848=)
c.1761G>A (p.Leu587=)
c.1869G>A (p.Leu623=)
c.5013G>A (p.Leu1671=)
c.5130G>A (p.Leu1710=)
c.5016G>A (p.Leu1672=)
c.5079G>A (p.Leu1693=)
c.5127G>A (p.Leu1709=)
c.5109G>A (p.Leu1703=)
c.5037G>A (p.Leu1679=)
c.5064G>A (p.Leu1688=)
c.5067G>A (p.Leu1689=)
c.5106G>A (p.Leu1702=)
c.5076G>A (p.Leu1692=)
n.1898G>A
c.4971G>A (p.Leu1657=)
c.5034G>A (p.Leu1678=)
c.4974G>A (p.Leu1658=)
c.5172G>A (p.Leu1724=)
c.5169G>A (p.Leu1723=)
n.5330G>A
 ClinVar dbSNP
2g.71664394G>CCA1707252DYSFc.2544G>C (p.Leu848=)
c.1761G>C (p.Leu587=)
c.1869G>C (p.Leu623=)
c.5013G>C (p.Leu1671=)
c.5130G>C (p.Leu1710=)
c.5016G>C (p.Leu1672=)
c.5079G>C (p.Leu1693=)
c.5127G>C (p.Leu1709=)
c.5109G>C (p.Leu1703=)
c.5037G>C (p.Leu1679=)
c.5064G>C (p.Leu1688=)
c.5067G>C (p.Leu1689=)
c.5106G>C (p.Leu1702=)
c.5076G>C (p.Leu1692=)
n.1898G>C
c.4971G>C (p.Leu1657=)
c.5034G>C (p.Leu1678=)
c.4974G>C (p.Leu1658=)
c.5172G>C (p.Leu1724=)
c.5169G>C (p.Leu1723=)
n.5330G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664394G=CA1260149782DYSFc.2544G= (p.Leu848=)
c.1761G= (p.Leu587=)
c.1869G= (p.Leu623=)
c.5013G= (p.Leu1671=)
c.5130G= (p.Leu1710=)
c.5016G= (p.Leu1672=)
c.5079G= (p.Leu1693=)
c.5127G= (p.Leu1709=)
c.5109G= (p.Leu1703=)
c.5037G= (p.Leu1679=)
c.5064G= (p.Leu1688=)
c.5067G= (p.Leu1689=)
c.5106G= (p.Leu1702=)
c.5076G= (p.Leu1692=)
n.1898G=
c.4971G= (p.Leu1657=)
c.5034G= (p.Leu1678=)
c.4974G= (p.Leu1658=)
c.5172G= (p.Leu1724=)
c.5169G= (p.Leu1723=)
n.5330G=
2g.71664394G>TCA426703970DYSFc.2544G>T (p.Leu848=)
c.1761G>T (p.Leu587=)
c.1869G>T (p.Leu623=)
c.5013G>T (p.Leu1671=)
c.5130G>T (p.Leu1710=)
c.5016G>T (p.Leu1672=)
c.5079G>T (p.Leu1693=)
c.5127G>T (p.Leu1709=)
c.5109G>T (p.Leu1703=)
c.5037G>T (p.Leu1679=)
c.5064G>T (p.Leu1688=)
c.5067G>T (p.Leu1689=)
c.5106G>T (p.Leu1702=)
c.5076G>T (p.Leu1692=)
n.1898G>T
c.4971G>T (p.Leu1657=)
c.5034G>T (p.Leu1678=)
c.4974G>T (p.Leu1658=)
c.5172G>T (p.Leu1724=)
c.5169G>T (p.Leu1723=)
n.5330G>T
2g.71664395T>ACA347220539DYSFc.2545T>A (p.Ser849Thr)
c.1762T>A (p.Ser588Thr)
c.1870T>A (p.Ser624Thr)
c.5014T>A (p.Ser1672Thr)
c.5131T>A (p.Ser1711Thr)
c.5017T>A (p.Ser1673Thr)
c.5080T>A (p.Ser1694Thr)
c.5128T>A (p.Ser1710Thr)
c.5110T>A (p.Ser1704Thr)
c.5038T>A (p.Ser1680Thr)
c.5065T>A (p.Ser1689Thr)
c.5068T>A (p.Ser1690Thr)
c.5107T>A (p.Ser1703Thr)
c.5077T>A (p.Ser1693Thr)
n.1899T>A
c.4972T>A (p.Ser1658Thr)
c.5035T>A (p.Ser1679Thr)
c.4975T>A (p.Ser1659Thr)
c.5173T>A (p.Ser1725Thr)
c.5170T>A (p.Ser1724Thr)
n.5331T>A
 gnomAD v4
2g.71664395T>CCA347220540DYSFc.2545T>C (p.Ser849Pro)
c.1762T>C (p.Ser588Pro)
c.1870T>C (p.Ser624Pro)
c.5014T>C (p.Ser1672Pro)
c.5131T>C (p.Ser1711Pro)
c.5017T>C (p.Ser1673Pro)
c.5080T>C (p.Ser1694Pro)
c.5128T>C (p.Ser1710Pro)
c.5110T>C (p.Ser1704Pro)
c.5038T>C (p.Ser1680Pro)
c.5065T>C (p.Ser1689Pro)
c.5068T>C (p.Ser1690Pro)
c.5107T>C (p.Ser1703Pro)
c.5077T>C (p.Ser1693Pro)
n.1899T>C
c.4972T>C (p.Ser1658Pro)
c.5035T>C (p.Ser1679Pro)
c.4975T>C (p.Ser1659Pro)
c.5173T>C (p.Ser1725Pro)
c.5170T>C (p.Ser1724Pro)
n.5331T>C
2g.71664395T>GCA347220542DYSFc.2545T>G (p.Ser849Ala)
c.1762T>G (p.Ser588Ala)
c.1870T>G (p.Ser624Ala)
c.5014T>G (p.Ser1672Ala)
c.5131T>G (p.Ser1711Ala)
c.5017T>G (p.Ser1673Ala)
c.5080T>G (p.Ser1694Ala)
c.5128T>G (p.Ser1710Ala)
c.5110T>G (p.Ser1704Ala)
c.5038T>G (p.Ser1680Ala)
c.5065T>G (p.Ser1689Ala)
c.5068T>G (p.Ser1690Ala)
c.5107T>G (p.Ser1703Ala)
c.5077T>G (p.Ser1693Ala)
n.1899T>G
c.4972T>G (p.Ser1658Ala)
c.5035T>G (p.Ser1679Ala)
c.4975T>G (p.Ser1659Ala)
c.5173T>G (p.Ser1725Ala)
c.5170T>G (p.Ser1724Ala)
n.5331T>G
2g.71664396C>ACA347220546DYSFc.2546C>A (p.Ser849Tyr)
c.1763C>A (p.Ser588Tyr)
c.1871C>A (p.Ser624Tyr)
c.5015C>A (p.Ser1672Tyr)
c.5132C>A (p.Ser1711Tyr)
c.5018C>A (p.Ser1673Tyr)
c.5081C>A (p.Ser1694Tyr)
c.5129C>A (p.Ser1710Tyr)
c.5111C>A (p.Ser1704Tyr)
c.5039C>A (p.Ser1680Tyr)
c.5066C>A (p.Ser1689Tyr)
c.5069C>A (p.Ser1690Tyr)
c.5108C>A (p.Ser1703Tyr)
c.5078C>A (p.Ser1693Tyr)
n.1900C>A
c.4973C>A (p.Ser1658Tyr)
c.5036C>A (p.Ser1679Tyr)
c.4976C>A (p.Ser1659Tyr)
c.5174C>A (p.Ser1725Tyr)
c.5171C>A (p.Ser1724Tyr)
n.5332C>A
2g.71664396C>GCA347220544DYSFc.2546C>G (p.Ser849Cys)
c.1763C>G (p.Ser588Cys)
c.1871C>G (p.Ser624Cys)
c.5015C>G (p.Ser1672Cys)
c.5132C>G (p.Ser1711Cys)
c.5018C>G (p.Ser1673Cys)
c.5081C>G (p.Ser1694Cys)
c.5129C>G (p.Ser1710Cys)
c.5111C>G (p.Ser1704Cys)
c.5039C>G (p.Ser1680Cys)
c.5066C>G (p.Ser1689Cys)
c.5069C>G (p.Ser1690Cys)
c.5108C>G (p.Ser1703Cys)
c.5078C>G (p.Ser1693Cys)
n.1900C>G
c.4973C>G (p.Ser1658Cys)
c.5036C>G (p.Ser1679Cys)
c.4976C>G (p.Ser1659Cys)
c.5174C>G (p.Ser1725Cys)
c.5171C>G (p.Ser1724Cys)
n.5332C>G
2g.71664396C>TCA347220545DYSFc.2546C>T (p.Ser849Phe)
c.1763C>T (p.Ser588Phe)
c.1871C>T (p.Ser624Phe)
c.5015C>T (p.Ser1672Phe)
c.5132C>T (p.Ser1711Phe)
c.5018C>T (p.Ser1673Phe)
c.5081C>T (p.Ser1694Phe)
c.5129C>T (p.Ser1710Phe)
c.5111C>T (p.Ser1704Phe)
c.5039C>T (p.Ser1680Phe)
c.5066C>T (p.Ser1689Phe)
c.5069C>T (p.Ser1690Phe)
c.5108C>T (p.Ser1703Phe)
c.5078C>T (p.Ser1693Phe)
n.1900C>T
c.4973C>T (p.Ser1658Phe)
c.5036C>T (p.Ser1679Phe)
c.4976C>T (p.Ser1659Phe)
c.5174C>T (p.Ser1725Phe)
c.5171C>T (p.Ser1724Phe)
n.5332C>T
2g.71664397C>ACA426703971DYSFc.2547C>A (p.Ser849=)
c.1764C>A (p.Ser588=)
c.1872C>A (p.Ser624=)
c.5016C>A (p.Ser1672=)
c.5133C>A (p.Ser1711=)
c.5019C>A (p.Ser1673=)
c.5082C>A (p.Ser1694=)
c.5130C>A (p.Ser1710=)
c.5112C>A (p.Ser1704=)
c.5040C>A (p.Ser1680=)
c.5067C>A (p.Ser1689=)
c.5070C>A (p.Ser1690=)
c.5109C>A (p.Ser1703=)
c.5079C>A (p.Ser1693=)
n.1901C>A
c.4974C>A (p.Ser1658=)
c.5037C>A (p.Ser1679=)
c.4977C>A (p.Ser1659=)
c.5175C>A (p.Ser1725=)
c.5172C>A (p.Ser1724=)
n.5333C>A
2g.71664397C=CA1260149783DYSFc.2547C= (p.Ser849=)
c.1764C= (p.Ser588=)
c.1872C= (p.Ser624=)
c.5016C= (p.Ser1672=)
c.5133C= (p.Ser1711=)
c.5019C= (p.Ser1673=)
c.5082C= (p.Ser1694=)
c.5130C= (p.Ser1710=)
c.5112C= (p.Ser1704=)
c.5040C= (p.Ser1680=)
c.5067C= (p.Ser1689=)
c.5070C= (p.Ser1690=)
c.5109C= (p.Ser1703=)
c.5079C= (p.Ser1693=)
n.1901C=
c.4974C= (p.Ser1658=)
c.5037C= (p.Ser1679=)
c.4977C= (p.Ser1659=)
c.5175C= (p.Ser1725=)
c.5172C= (p.Ser1724=)
n.5333C=
2g.71664397C>GCA49766978DYSFc.2547C>G (p.Ser849=)
c.1764C>G (p.Ser588=)
c.1872C>G (p.Ser624=)
c.5016C>G (p.Ser1672=)
c.5133C>G (p.Ser1711=)
c.5019C>G (p.Ser1673=)
c.5082C>G (p.Ser1694=)
c.5130C>G (p.Ser1710=)
c.5112C>G (p.Ser1704=)
c.5040C>G (p.Ser1680=)
c.5067C>G (p.Ser1689=)
c.5070C>G (p.Ser1690=)
c.5109C>G (p.Ser1703=)
c.5079C>G (p.Ser1693=)
n.1901C>G
c.4974C>G (p.Ser1658=)
c.5037C>G (p.Ser1679=)
c.4977C>G (p.Ser1659=)
c.5175C>G (p.Ser1725=)
c.5172C>G (p.Ser1724=)
n.5333C>G
 dbSNP
2g.71664397C>TCA426703972DYSFc.2547C>T (p.Ser849=)
c.1764C>T (p.Ser588=)
c.1872C>T (p.Ser624=)
c.5016C>T (p.Ser1672=)
c.5133C>T (p.Ser1711=)
c.5019C>T (p.Ser1673=)
c.5082C>T (p.Ser1694=)
c.5130C>T (p.Ser1710=)
c.5112C>T (p.Ser1704=)
c.5040C>T (p.Ser1680=)
c.5067C>T (p.Ser1689=)
c.5070C>T (p.Ser1690=)
c.5109C>T (p.Ser1703=)
c.5079C>T (p.Ser1693=)
n.1901C>T
c.4974C>T (p.Ser1658=)
c.5037C>T (p.Ser1679=)
c.4977C>T (p.Ser1659=)
c.5175C>T (p.Ser1725=)
c.5172C>T (p.Ser1724=)
n.5333C>T
2g.71664397_71664398delinsCACA1260149784DYSFc.2547_2548delinsCA (p.Ser849=)
c.1764_1765delinsCA (p.Ser588=)
c.1872_1873delinsCA (p.Ser624=)
c.5016_5017delinsCA (p.Ser1672=)
c.5133_5134delinsCA (p.Ser1711=)
c.5019_5020delinsCA (p.Ser1673=)
c.5082_5083delinsCA (p.Ser1694=)
c.5130_5131delinsCA (p.Ser1710=)
c.5112_5113delinsCA (p.Ser1704=)
c.5040_5041delinsCA (p.Ser1680=)
c.5067_5068delinsCA (p.Ser1689=)
c.5070_5071delinsCA (p.Ser1690=)
c.5109_5110delinsCA (p.Ser1703=)
c.5079_5080delinsCA (p.Ser1693=)
n.1901_1902delinsCA
c.4974_4975delinsCA (p.Ser1658=)
c.5037_5038delinsCA (p.Ser1679=)
c.4977_4978delinsCA (p.Ser1659=)
c.5175_5176delinsCA (p.Ser1725=)
c.5172_5173delinsCA (p.Ser1724=)
n.5333_5334delinsCA
2g.71664398A>CCA347220547DYSFc.2548A>C (p.Lys850Gln)
c.1765A>C (p.Lys589Gln)
c.1873A>C (p.Lys625Gln)
c.5017A>C (p.Lys1673Gln)
c.5134A>C (p.Lys1712Gln)
c.5020A>C (p.Lys1674Gln)
c.5083A>C (p.Lys1695Gln)
c.5131A>C (p.Lys1711Gln)
c.5113A>C (p.Lys1705Gln)
c.5041A>C (p.Lys1681Gln)
c.5068A>C (p.Lys1690Gln)
c.5071A>C (p.Lys1691Gln)
c.5110A>C (p.Lys1704Gln)
c.5080A>C (p.Lys1694Gln)
n.1902A>C
c.4975A>C (p.Lys1659Gln)
c.5038A>C (p.Lys1680Gln)
c.4978A>C (p.Lys1660Gln)
c.5176A>C (p.Lys1726Gln)
c.5173A>C (p.Lys1725Gln)
n.5334A>C
2g.71664398A>GCA347220548DYSFc.2548A>G (p.Lys850Glu)
c.1765A>G (p.Lys589Glu)
c.1873A>G (p.Lys625Glu)
c.5017A>G (p.Lys1673Glu)
c.5134A>G (p.Lys1712Glu)
c.5020A>G (p.Lys1674Glu)
c.5083A>G (p.Lys1695Glu)
c.5131A>G (p.Lys1711Glu)
c.5113A>G (p.Lys1705Glu)
c.5041A>G (p.Lys1681Glu)
c.5068A>G (p.Lys1690Glu)
c.5071A>G (p.Lys1691Glu)
c.5110A>G (p.Lys1704Glu)
c.5080A>G (p.Lys1694Glu)
n.1902A>G
c.4975A>G (p.Lys1659Glu)
c.5038A>G (p.Lys1680Glu)
c.4978A>G (p.Lys1660Glu)
c.5176A>G (p.Lys1726Glu)
c.5173A>G (p.Lys1725Glu)
n.5334A>G
2g.71664398A>TCA347220549DYSFc.2548A>T (p.Lys850Ter)
c.1765A>T (p.Lys589Ter)
c.1873A>T (p.Lys625Ter)
c.5017A>T (p.Lys1673Ter)
c.5134A>T (p.Lys1712Ter)
c.5020A>T (p.Lys1674Ter)
c.5083A>T (p.Lys1695Ter)
c.5131A>T (p.Lys1711Ter)
c.5113A>T (p.Lys1705Ter)
c.5041A>T (p.Lys1681Ter)
c.5068A>T (p.Lys1690Ter)
c.5071A>T (p.Lys1691Ter)
c.5110A>T (p.Lys1704Ter)
c.5080A>T (p.Lys1694Ter)
n.1902A>T
c.4975A>T (p.Lys1659Ter)
c.5038A>T (p.Lys1680Ter)
c.4978A>T (p.Lys1660Ter)
c.5176A>T (p.Lys1726Ter)
c.5173A>T (p.Lys1725Ter)
n.5334A>T
2g.71664399delCA16621750DYSFc.2549del (p.Lys850SerfsTer?)
c.1766del (p.Lys589SerfsTer?)
c.1874del (p.Lys625SerfsTer?)
c.5018del (p.Lys1673SerfsTer?)
c.5135del (p.Lys1712SerfsTer?)
c.5021del (p.Lys1674SerfsTer?)
c.5084del (p.Lys1695SerfsTer?)
c.5132del (p.Lys1711SerfsTer?)
c.5114del (p.Lys1705SerfsTer?)
c.5042del (p.Lys1681SerfsTer?)
c.5069del (p.Lys1690SerfsTer?)
c.5072del (p.Lys1691SerfsTer?)
c.5111del (p.Lys1704SerfsTer?)
c.5081del (p.Lys1694SerfsTer?)
n.1903del
c.4976del (p.Lys1659SerfsTer?)
c.5039del (p.Lys1680SerfsTer?)
c.4979del (p.Lys1660SerfsTer?)
c.5177del (p.Lys1726SerfsTer?)
c.5174del (p.Lys1725SerfsTer?)
n.5335del
 ClinVar dbSNP
2g.71664399A>CCA347220550DYSFc.2549A>C (p.Lys850Thr)
c.1766A>C (p.Lys589Thr)
c.1874A>C (p.Lys625Thr)
c.5018A>C (p.Lys1673Thr)
c.5135A>C (p.Lys1712Thr)
c.5021A>C (p.Lys1674Thr)
c.5084A>C (p.Lys1695Thr)
c.5132A>C (p.Lys1711Thr)
c.5114A>C (p.Lys1705Thr)
c.5042A>C (p.Lys1681Thr)
c.5069A>C (p.Lys1690Thr)
c.5072A>C (p.Lys1691Thr)
c.5111A>C (p.Lys1704Thr)
c.5081A>C (p.Lys1694Thr)
n.1903A>C
c.4976A>C (p.Lys1659Thr)
c.5039A>C (p.Lys1680Thr)
c.4979A>C (p.Lys1660Thr)
c.5177A>C (p.Lys1726Thr)
c.5174A>C (p.Lys1725Thr)
n.5335A>C
2g.71664399A>GCA347220552DYSFc.2549A>G (p.Lys850Arg)
c.1766A>G (p.Lys589Arg)
c.1874A>G (p.Lys625Arg)
c.5018A>G (p.Lys1673Arg)
c.5135A>G (p.Lys1712Arg)
c.5021A>G (p.Lys1674Arg)
c.5084A>G (p.Lys1695Arg)
c.5132A>G (p.Lys1711Arg)
c.5114A>G (p.Lys1705Arg)
c.5042A>G (p.Lys1681Arg)
c.5069A>G (p.Lys1690Arg)
c.5072A>G (p.Lys1691Arg)
c.5111A>G (p.Lys1704Arg)
c.5081A>G (p.Lys1694Arg)
n.1903A>G
c.4976A>G (p.Lys1659Arg)
c.5039A>G (p.Lys1680Arg)
c.4979A>G (p.Lys1660Arg)
c.5177A>G (p.Lys1726Arg)
c.5174A>G (p.Lys1725Arg)
n.5335A>G
2g.71664399A>TCA347220554DYSFc.2549A>T (p.Lys850Met)
c.1766A>T (p.Lys589Met)
c.1874A>T (p.Lys625Met)
c.5018A>T (p.Lys1673Met)
c.5135A>T (p.Lys1712Met)
c.5021A>T (p.Lys1674Met)
c.5084A>T (p.Lys1695Met)
c.5132A>T (p.Lys1711Met)
c.5114A>T (p.Lys1705Met)
c.5042A>T (p.Lys1681Met)
c.5069A>T (p.Lys1690Met)
c.5072A>T (p.Lys1691Met)
c.5111A>T (p.Lys1704Met)
c.5081A>T (p.Lys1694Met)
n.1903A>T
c.4976A>T (p.Lys1659Met)
c.5039A>T (p.Lys1680Met)
c.4979A>T (p.Lys1660Met)
c.5177A>T (p.Lys1726Met)
c.5174A>T (p.Lys1725Met)
n.5335A>T
2g.71664400G>ACA426703973DYSFc.2550G>A (p.Lys850=)
c.1767G>A (p.Lys589=)
c.1875G>A (p.Lys625=)
c.5019G>A (p.Lys1673=)
c.5136G>A (p.Lys1712=)
c.5022G>A (p.Lys1674=)
c.5085G>A (p.Lys1695=)
c.5133G>A (p.Lys1711=)
c.5115G>A (p.Lys1705=)
c.5043G>A (p.Lys1681=)
c.5070G>A (p.Lys1690=)
c.5073G>A (p.Lys1691=)
c.5112G>A (p.Lys1704=)
c.5082G>A (p.Lys1694=)
n.1904G>A
c.4977G>A (p.Lys1659=)
c.5040G>A (p.Lys1680=)
c.4980G>A (p.Lys1660=)
c.5178G>A (p.Lys1726=)
c.5175G>A (p.Lys1725=)
n.5336G>A
 gnomAD v4
2g.71664400G>CCA347220555DYSFc.2550G>C (p.Lys850Asn)
c.1767G>C (p.Lys589Asn)
c.1875G>C (p.Lys625Asn)
c.5019G>C (p.Lys1673Asn)
c.5136G>C (p.Lys1712Asn)
c.5022G>C (p.Lys1674Asn)
c.5085G>C (p.Lys1695Asn)
c.5133G>C (p.Lys1711Asn)
c.5115G>C (p.Lys1705Asn)
c.5043G>C (p.Lys1681Asn)
c.5070G>C (p.Lys1690Asn)
c.5073G>C (p.Lys1691Asn)
c.5112G>C (p.Lys1704Asn)
c.5082G>C (p.Lys1694Asn)
n.1904G>C
c.4977G>C (p.Lys1659Asn)
c.5040G>C (p.Lys1680Asn)
c.4980G>C (p.Lys1660Asn)
c.5178G>C (p.Lys1726Asn)
c.5175G>C (p.Lys1725Asn)
n.5336G>C
2g.71664400G>TCA347220557DYSFc.2550G>T (p.Lys850Asn)
c.1767G>T (p.Lys589Asn)
c.1875G>T (p.Lys625Asn)
c.5019G>T (p.Lys1673Asn)
c.5136G>T (p.Lys1712Asn)
c.5022G>T (p.Lys1674Asn)
c.5085G>T (p.Lys1695Asn)
c.5133G>T (p.Lys1711Asn)
c.5115G>T (p.Lys1705Asn)
c.5043G>T (p.Lys1681Asn)
c.5070G>T (p.Lys1690Asn)
c.5073G>T (p.Lys1691Asn)
c.5112G>T (p.Lys1704Asn)
c.5082G>T (p.Lys1694Asn)
n.1904G>T
c.4977G>T (p.Lys1659Asn)
c.5040G>T (p.Lys1680Asn)
c.4980G>T (p.Lys1660Asn)
c.5178G>T (p.Lys1726Asn)
c.5175G>T (p.Lys1725Asn)
n.5336G>T
2g.71664400_71664401delinsGTCA1260149785DYSFc.2550_2551delinsGT (p.Lys850=)
c.1767_1768delinsGT (p.Lys589=)
c.1875_1876delinsGT (p.Lys625=)
c.5019_5020delinsGT (p.Lys1673=)
c.5136_5137delinsGT (p.Lys1712=)
c.5022_5023delinsGT (p.Lys1674=)
c.5085_5086delinsGT (p.Lys1695=)
c.5133_5134delinsGT (p.Lys1711=)
c.5115_5116delinsGT (p.Lys1705=)
c.5043_5044delinsGT (p.Lys1681=)
c.5070_5071delinsGT (p.Lys1690=)
c.5073_5074delinsGT (p.Lys1691=)
c.5112_5113delinsGT (p.Lys1704=)
c.5082_5083delinsGT (p.Lys1694=)
n.1904_1905delinsGT
c.4977_4978delinsGT (p.Lys1659=)
c.5040_5041delinsGT (p.Lys1680=)
c.4980_4981delinsGT (p.Lys1660=)
c.5178_5179delinsGT (p.Lys1726=)
c.5175_5176delinsGT (p.Lys1725=)
n.5336_5337delinsGT
2g.71664401T>ACA347220558DYSFc.2551T>A (p.Phe851Ile)
c.1768T>A (p.Phe590Ile)
c.1876T>A (p.Phe626Ile)
c.5020T>A (p.Phe1674Ile)
c.5137T>A (p.Phe1713Ile)
c.5023T>A (p.Phe1675Ile)
c.5086T>A (p.Phe1696Ile)
c.5134T>A (p.Phe1712Ile)
c.5116T>A (p.Phe1706Ile)
c.5044T>A (p.Phe1682Ile)
c.5071T>A (p.Phe1691Ile)
c.5074T>A (p.Phe1692Ile)
c.5113T>A (p.Phe1705Ile)
c.5083T>A (p.Phe1695Ile)
n.1905T>A
c.4978T>A (p.Phe1660Ile)
c.5041T>A (p.Phe1681Ile)
c.4981T>A (p.Phe1661Ile)
c.5179T>A (p.Phe1727Ile)
c.5176T>A (p.Phe1726Ile)
n.5337T>A
2g.71664401T>CCA347220560DYSFc.2551T>C (p.Phe851Leu)
c.1768T>C (p.Phe590Leu)
c.1876T>C (p.Phe626Leu)
c.5020T>C (p.Phe1674Leu)
c.5137T>C (p.Phe1713Leu)
c.5023T>C (p.Phe1675Leu)
c.5086T>C (p.Phe1696Leu)
c.5134T>C (p.Phe1712Leu)
c.5116T>C (p.Phe1706Leu)
c.5044T>C (p.Phe1682Leu)
c.5071T>C (p.Phe1691Leu)
c.5074T>C (p.Phe1692Leu)
c.5113T>C (p.Phe1705Leu)
c.5083T>C (p.Phe1695Leu)
n.1905T>C
c.4978T>C (p.Phe1660Leu)
c.5041T>C (p.Phe1681Leu)
c.4981T>C (p.Phe1661Leu)
c.5179T>C (p.Phe1727Leu)
c.5176T>C (p.Phe1726Leu)
n.5337T>C
2g.71664401T>GCA347220561DYSFc.2551T>G (p.Phe851Val)
c.1768T>G (p.Phe590Val)
c.1876T>G (p.Phe626Val)
c.5020T>G (p.Phe1674Val)
c.5137T>G (p.Phe1713Val)
c.5023T>G (p.Phe1675Val)
c.5086T>G (p.Phe1696Val)
c.5134T>G (p.Phe1712Val)
c.5116T>G (p.Phe1706Val)
c.5044T>G (p.Phe1682Val)
c.5071T>G (p.Phe1691Val)
c.5074T>G (p.Phe1692Val)
c.5113T>G (p.Phe1705Val)
c.5083T>G (p.Phe1695Val)
n.1905T>G
c.4978T>G (p.Phe1660Val)
c.5041T>G (p.Phe1681Val)
c.4981T>G (p.Phe1661Val)
c.5179T>G (p.Phe1727Val)
c.5176T>G (p.Phe1726Val)
n.5337T>G
2g.71664403delCA16043769DYSFc.2553del (p.Phe851LeufsTer?)
c.1770del (p.Phe590LeufsTer?)
c.1878del (p.Phe626LeufsTer?)
c.5022del (p.Phe1674LeufsTer?)
c.5139del (p.Phe1713LeufsTer?)
c.5025del (p.Phe1675LeufsTer?)
c.5088del (p.Phe1696LeufsTer?)
c.5136del (p.Phe1712LeufsTer?)
c.5118del (p.Phe1706LeufsTer?)
c.5046del (p.Phe1682LeufsTer?)
c.5073del (p.Phe1691LeufsTer?)
c.5076del (p.Phe1692LeufsTer?)
c.5115del (p.Phe1705LeufsTer?)
c.5085del (p.Phe1695LeufsTer?)
n.1907del
c.4980del (p.Phe1660LeufsTer?)
c.5043del (p.Phe1681LeufsTer?)
c.4983del (p.Phe1661LeufsTer?)
c.5181del (p.Phe1727LeufsTer?)
c.5178del (p.Phe1726LeufsTer?)
n.5339del
 ClinVar dbSNP gnomAD v4
2g.71664402T>ACA347220568DYSFc.2552T>A (p.Phe851Tyr)
c.1769T>A (p.Phe590Tyr)
c.1877T>A (p.Phe626Tyr)
c.5021T>A (p.Phe1674Tyr)
c.5138T>A (p.Phe1713Tyr)
c.5024T>A (p.Phe1675Tyr)
c.5087T>A (p.Phe1696Tyr)
c.5135T>A (p.Phe1712Tyr)
c.5117T>A (p.Phe1706Tyr)
c.5045T>A (p.Phe1682Tyr)
c.5072T>A (p.Phe1691Tyr)
c.5075T>A (p.Phe1692Tyr)
c.5114T>A (p.Phe1705Tyr)
c.5084T>A (p.Phe1695Tyr)
n.1906T>A
c.4979T>A (p.Phe1660Tyr)
c.5042T>A (p.Phe1681Tyr)
c.4982T>A (p.Phe1661Tyr)
c.5180T>A (p.Phe1727Tyr)
c.5177T>A (p.Phe1726Tyr)
n.5338T>A
2g.71664402T>CCA10606610DYSFc.2552T>C (p.Phe851Ser)
c.1769T>C (p.Phe590Ser)
c.1877T>C (p.Phe626Ser)
c.5021T>C (p.Phe1674Ser)
c.5138T>C (p.Phe1713Ser)
c.5024T>C (p.Phe1675Ser)
c.5087T>C (p.Phe1696Ser)
c.5135T>C (p.Phe1712Ser)
c.5117T>C (p.Phe1706Ser)
c.5045T>C (p.Phe1682Ser)
c.5072T>C (p.Phe1691Ser)
c.5075T>C (p.Phe1692Ser)
c.5114T>C (p.Phe1705Ser)
c.5084T>C (p.Phe1695Ser)
n.1906T>C
c.4979T>C (p.Phe1660Ser)
c.5042T>C (p.Phe1681Ser)
c.4982T>C (p.Phe1661Ser)
c.5180T>C (p.Phe1727Ser)
c.5177T>C (p.Phe1726Ser)
n.5338T>C
 ClinVar dbSNP
2g.71664402T>GCA347220566DYSFc.2552T>G (p.Phe851Cys)
c.1769T>G (p.Phe590Cys)
c.1877T>G (p.Phe626Cys)
c.5021T>G (p.Phe1674Cys)
c.5138T>G (p.Phe1713Cys)
c.5024T>G (p.Phe1675Cys)
c.5087T>G (p.Phe1696Cys)
c.5135T>G (p.Phe1712Cys)
c.5117T>G (p.Phe1706Cys)
c.5045T>G (p.Phe1682Cys)
c.5072T>G (p.Phe1691Cys)
c.5075T>G (p.Phe1692Cys)
c.5114T>G (p.Phe1705Cys)
c.5084T>G (p.Phe1695Cys)
n.1906T>G
c.4979T>G (p.Phe1660Cys)
c.5042T>G (p.Phe1681Cys)
c.4982T>G (p.Phe1661Cys)
c.5180T>G (p.Phe1727Cys)
c.5177T>G (p.Phe1726Cys)
n.5338T>G
2g.71664402T=CA1260149786DYSFc.2552T= (p.Phe851=)
c.1769T= (p.Phe590=)
c.1877T= (p.Phe626=)
c.5021T= (p.Phe1674=)
c.5138T= (p.Phe1713=)
c.5024T= (p.Phe1675=)
c.5087T= (p.Phe1696=)
c.5135T= (p.Phe1712=)
c.5117T= (p.Phe1706=)
c.5045T= (p.Phe1682=)
c.5072T= (p.Phe1691=)
c.5075T= (p.Phe1692=)
c.5114T= (p.Phe1705=)
c.5084T= (p.Phe1695=)
n.1906T=
c.4979T= (p.Phe1660=)
c.5042T= (p.Phe1681=)
c.4982T= (p.Phe1661=)
c.5180T= (p.Phe1727=)
c.5177T= (p.Phe1726=)
n.5338T=
2g.71664403T>ACA347220570DYSFc.2553T>A (p.Phe851Leu)
c.1770T>A (p.Phe590Leu)
c.1878T>A (p.Phe626Leu)
c.5022T>A (p.Phe1674Leu)
c.5139T>A (p.Phe1713Leu)
c.5025T>A (p.Phe1675Leu)
c.5088T>A (p.Phe1696Leu)
c.5136T>A (p.Phe1712Leu)
c.5118T>A (p.Phe1706Leu)
c.5046T>A (p.Phe1682Leu)
c.5073T>A (p.Phe1691Leu)
c.5076T>A (p.Phe1692Leu)
c.5115T>A (p.Phe1705Leu)
c.5085T>A (p.Phe1695Leu)
n.1907T>A
c.4980T>A (p.Phe1660Leu)
c.5043T>A (p.Phe1681Leu)
c.4983T>A (p.Phe1661Leu)
c.5181T>A (p.Phe1727Leu)
c.5178T>A (p.Phe1726Leu)
n.5339T>A
2g.71664403T>CCA426703974DYSFc.2553T>C (p.Phe851=)
c.1770T>C (p.Phe590=)
c.1878T>C (p.Phe626=)
c.5022T>C (p.Phe1674=)
c.5139T>C (p.Phe1713=)
c.5025T>C (p.Phe1675=)
c.5088T>C (p.Phe1696=)
c.5136T>C (p.Phe1712=)
c.5118T>C (p.Phe1706=)
c.5046T>C (p.Phe1682=)
c.5073T>C (p.Phe1691=)
c.5076T>C (p.Phe1692=)
c.5115T>C (p.Phe1705=)
c.5085T>C (p.Phe1695=)
n.1907T>C
c.4980T>C (p.Phe1660=)
c.5043T>C (p.Phe1681=)
c.4983T>C (p.Phe1661=)
c.5181T>C (p.Phe1727=)
c.5178T>C (p.Phe1726=)
n.5339T>C
2g.71664403T>GCA347220572DYSFc.2553T>G (p.Phe851Leu)
c.1770T>G (p.Phe590Leu)
c.1878T>G (p.Phe626Leu)
c.5022T>G (p.Phe1674Leu)
c.5139T>G (p.Phe1713Leu)
c.5025T>G (p.Phe1675Leu)
c.5088T>G (p.Phe1696Leu)
c.5136T>G (p.Phe1712Leu)
c.5118T>G (p.Phe1706Leu)
c.5046T>G (p.Phe1682Leu)
c.5073T>G (p.Phe1691Leu)
c.5076T>G (p.Phe1692Leu)
c.5115T>G (p.Phe1705Leu)
c.5085T>G (p.Phe1695Leu)
n.1907T>G
c.4980T>G (p.Phe1660Leu)
c.5043T>G (p.Phe1681Leu)
c.4983T>G (p.Phe1661Leu)
c.5181T>G (p.Phe1727Leu)
c.5178T>G (p.Phe1726Leu)
n.5339T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71664403T=CA1260149787DYSFc.2553T= (p.Phe851=)
c.1770T= (p.Phe590=)
c.1878T= (p.Phe626=)
c.5022T= (p.Phe1674=)
c.5139T= (p.Phe1713=)
c.5025T= (p.Phe1675=)
c.5088T= (p.Phe1696=)
c.5136T= (p.Phe1712=)
c.5118T= (p.Phe1706=)
c.5046T= (p.Phe1682=)
c.5073T= (p.Phe1691=)
c.5076T= (p.Phe1692=)
c.5115T= (p.Phe1705=)
c.5085T= (p.Phe1695=)
n.1907T=
c.4980T= (p.Phe1660=)
c.5043T= (p.Phe1681=)
c.4983T= (p.Phe1661=)
c.5181T= (p.Phe1727=)
c.5178T= (p.Phe1726=)
n.5339T=
2g.71664404G>ACA347220574DYSFc.2554G>A (p.Gly852Arg)
c.1771G>A (p.Gly591Arg)
c.1879G>A (p.Gly627Arg)
c.5023G>A (p.Gly1675Arg)
c.5140G>A (p.Gly1714Arg)
c.5026G>A (p.Gly1676Arg)
c.5089G>A (p.Gly1697Arg)
c.5137G>A (p.Gly1713Arg)
c.5119G>A (p.Gly1707Arg)
c.5047G>A (p.Gly1683Arg)
c.5074G>A (p.Gly1692Arg)
c.5077G>A (p.Gly1693Arg)
c.5116G>A (p.Gly1706Arg)
c.5086G>A (p.Gly1696Arg)
n.1908G>A
c.4981G>A (p.Gly1661Arg)
c.5044G>A (p.Gly1682Arg)
c.4984G>A (p.Gly1662Arg)
c.5182G>A (p.Gly1728Arg)
c.5179G>A (p.Gly1727Arg)
n.5340G>A
 COSMIC COSMIC
2g.71664404G>CCA347220575DYSFc.2554G>C (p.Gly852Arg)
c.1771G>C (p.Gly591Arg)
c.1879G>C (p.Gly627Arg)
c.5023G>C (p.Gly1675Arg)
c.5140G>C (p.Gly1714Arg)
c.5026G>C (p.Gly1676Arg)
c.5089G>C (p.Gly1697Arg)
c.5137G>C (p.Gly1713Arg)
c.5119G>C (p.Gly1707Arg)
c.5047G>C (p.Gly1683Arg)
c.5074G>C (p.Gly1692Arg)
c.5077G>C (p.Gly1693Arg)
c.5116G>C (p.Gly1706Arg)
c.5086G>C (p.Gly1696Arg)
n.1908G>C
c.4981G>C (p.Gly1661Arg)
c.5044G>C (p.Gly1682Arg)
c.4984G>C (p.Gly1662Arg)
c.5182G>C (p.Gly1728Arg)
c.5179G>C (p.Gly1727Arg)
n.5340G>C
2g.71664404G>TCA347220578DYSFc.2554G>T (p.Gly852Trp)
c.1771G>T (p.Gly591Trp)
c.1879G>T (p.Gly627Trp)
c.5023G>T (p.Gly1675Trp)
c.5140G>T (p.Gly1714Trp)
c.5026G>T (p.Gly1676Trp)
c.5089G>T (p.Gly1697Trp)
c.5137G>T (p.Gly1713Trp)
c.5119G>T (p.Gly1707Trp)
c.5047G>T (p.Gly1683Trp)
c.5074G>T (p.Gly1692Trp)
c.5077G>T (p.Gly1693Trp)
c.5116G>T (p.Gly1706Trp)
c.5086G>T (p.Gly1696Trp)
n.1908G>T
c.4981G>T (p.Gly1661Trp)
c.5044G>T (p.Gly1682Trp)
c.4984G>T (p.Gly1662Trp)
c.5182G>T (p.Gly1728Trp)
c.5179G>T (p.Gly1727Trp)
n.5340G>T
2g.71664405G>ACA347220580DYSFc.2555G>A (p.Gly852Glu)
c.1772G>A (p.Gly591Glu)
c.1880G>A (p.Gly627Glu)
c.5024G>A (p.Gly1675Glu)
c.5141G>A (p.Gly1714Glu)
c.5027G>A (p.Gly1676Glu)
c.5090G>A (p.Gly1697Glu)
c.5138G>A (p.Gly1713Glu)
c.5120G>A (p.Gly1707Glu)
c.5048G>A (p.Gly1683Glu)
c.5075G>A (p.Gly1692Glu)
c.5078G>A (p.Gly1693Glu)
c.5117G>A (p.Gly1706Glu)
c.5087G>A (p.Gly1696Glu)
n.1909G>A
c.4982G>A (p.Gly1661Glu)
c.5045G>A (p.Gly1682Glu)
c.4985G>A (p.Gly1662Glu)
c.5183G>A (p.Gly1728Glu)
c.5180G>A (p.Gly1727Glu)
n.5341G>A
2g.71664405G>CCA347220582DYSFc.2555G>C (p.Gly852Ala)
c.1772G>C (p.Gly591Ala)
c.1880G>C (p.Gly627Ala)
c.5024G>C (p.Gly1675Ala)
c.5141G>C (p.Gly1714Ala)
c.5027G>C (p.Gly1676Ala)
c.5090G>C (p.Gly1697Ala)
c.5138G>C (p.Gly1713Ala)
c.5120G>C (p.Gly1707Ala)
c.5048G>C (p.Gly1683Ala)
c.5075G>C (p.Gly1692Ala)
c.5078G>C (p.Gly1693Ala)
c.5117G>C (p.Gly1706Ala)
c.5087G>C (p.Gly1696Ala)
n.1909G>C
c.4982G>C (p.Gly1661Ala)
c.5045G>C (p.Gly1682Ala)
c.4985G>C (p.Gly1662Ala)
c.5183G>C (p.Gly1728Ala)
c.5180G>C (p.Gly1727Ala)
n.5341G>C
2g.71664405G>TCA347220583DYSFc.2555G>T (p.Gly852Val)
c.1772G>T (p.Gly591Val)
c.1880G>T (p.Gly627Val)
c.5024G>T (p.Gly1675Val)
c.5141G>T (p.Gly1714Val)
c.5027G>T (p.Gly1676Val)
c.5090G>T (p.Gly1697Val)
c.5138G>T (p.Gly1713Val)
c.5120G>T (p.Gly1707Val)
c.5048G>T (p.Gly1683Val)
c.5075G>T (p.Gly1692Val)
c.5078G>T (p.Gly1693Val)
c.5117G>T (p.Gly1706Val)
c.5087G>T (p.Gly1696Val)
n.1909G>T
c.4982G>T (p.Gly1661Val)
c.5045G>T (p.Gly1682Val)
c.4985G>T (p.Gly1662Val)
c.5183G>T (p.Gly1728Val)
c.5180G>T (p.Gly1727Val)
n.5341G>T
2g.71664406G>ACA426703975DYSFc.2556G>A (p.Gly852=)
c.1773G>A (p.Gly591=)
c.1881G>A (p.Gly627=)
c.5025G>A (p.Gly1675=)
c.5142G>A (p.Gly1714=)
c.5028G>A (p.Gly1676=)
c.5091G>A (p.Gly1697=)
c.5139G>A (p.Gly1713=)
c.5121G>A (p.Gly1707=)
c.5049G>A (p.Gly1683=)
c.5076G>A (p.Gly1692=)
c.5079G>A (p.Gly1693=)
c.5118G>A (p.Gly1706=)
c.5088G>A (p.Gly1696=)
n.1910G>A
c.4983G>A (p.Gly1661=)
c.5046G>A (p.Gly1682=)
c.4986G>A (p.Gly1662=)
c.5184G>A (p.Gly1728=)
c.5181G>A (p.Gly1727=)
n.5342G>A
2g.71664406G>CCA426703976DYSFc.2556G>C (p.Gly852=)
c.1773G>C (p.Gly591=)
c.1881G>C (p.Gly627=)
c.5025G>C (p.Gly1675=)
c.5142G>C (p.Gly1714=)
c.5028G>C (p.Gly1676=)
c.5091G>C (p.Gly1697=)
c.5139G>C (p.Gly1713=)
c.5121G>C (p.Gly1707=)
c.5049G>C (p.Gly1683=)
c.5076G>C (p.Gly1692=)
c.5079G>C (p.Gly1693=)
c.5118G>C (p.Gly1706=)
c.5088G>C (p.Gly1696=)
n.1910G>C
c.4983G>C (p.Gly1661=)
c.5046G>C (p.Gly1682=)
c.4986G>C (p.Gly1662=)
c.5184G>C (p.Gly1728=)
c.5181G>C (p.Gly1727=)
n.5342G>C
2g.71664406G>TCA426703977DYSFc.2556G>T (p.Gly852=)
c.1773G>T (p.Gly591=)
c.1881G>T (p.Gly627=)
c.5025G>T (p.Gly1675=)
c.5142G>T (p.Gly1714=)
c.5028G>T (p.Gly1676=)
c.5091G>T (p.Gly1697=)
c.5139G>T (p.Gly1713=)
c.5121G>T (p.Gly1707=)
c.5049G>T (p.Gly1683=)
c.5076G>T (p.Gly1692=)
c.5079G>T (p.Gly1693=)
c.5118G>T (p.Gly1706=)
c.5088G>T (p.Gly1696=)
n.1910G>T
c.4983G>T (p.Gly1661=)
c.5046G>T (p.Gly1682=)
c.4986G>T (p.Gly1662=)
c.5184G>T (p.Gly1728=)
c.5181G>T (p.Gly1727=)
n.5342G>T
2g.71664407G>ACA347220584DYSFc.2557G>A (p.Ala853Thr)
c.1774G>A (p.Ala592Thr)
c.1882G>A (p.Ala628Thr)
c.5026G>A (p.Ala1676Thr)
c.5143G>A (p.Ala1715Thr)
c.5029G>A (p.Ala1677Thr)
c.5092G>A (p.Ala1698Thr)
c.5140G>A (p.Ala1714Thr)
c.5122G>A (p.Ala1708Thr)
c.5050G>A (p.Ala1684Thr)
c.5077G>A (p.Ala1693Thr)
c.5080G>A (p.Ala1694Thr)
c.5119G>A (p.Ala1707Thr)
c.5089G>A (p.Ala1697Thr)
n.1911G>A
c.4984G>A (p.Ala1662Thr)
c.5047G>A (p.Ala1683Thr)
c.4987G>A (p.Ala1663Thr)
c.5185G>A (p.Ala1729Thr)
c.5182G>A (p.Ala1728Thr)
n.5343G>A
 gnomAD v4
2g.71664407G>CCA347220585DYSFc.2557G>C (p.Ala853Pro)
c.1774G>C (p.Ala592Pro)
c.1882G>C (p.Ala628Pro)
c.5026G>C (p.Ala1676Pro)
c.5143G>C (p.Ala1715Pro)
c.5029G>C (p.Ala1677Pro)
c.5092G>C (p.Ala1698Pro)
c.5140G>C (p.Ala1714Pro)
c.5122G>C (p.Ala1708Pro)
c.5050G>C (p.Ala1684Pro)
c.5077G>C (p.Ala1693Pro)
c.5080G>C (p.Ala1694Pro)
c.5119G>C (p.Ala1707Pro)
c.5089G>C (p.Ala1697Pro)
n.1911G>C
c.4984G>C (p.Ala1662Pro)
c.5047G>C (p.Ala1683Pro)
c.4987G>C (p.Ala1663Pro)
c.5185G>C (p.Ala1729Pro)
c.5182G>C (p.Ala1728Pro)
n.5343G>C
2g.71664407G=CA1260149788DYSFc.2557G= (p.Ala853=)
c.1774G= (p.Ala592=)
c.1882G= (p.Ala628=)
c.5026G= (p.Ala1676=)
c.5143G= (p.Ala1715=)
c.5029G= (p.Ala1677=)
c.5092G= (p.Ala1698=)
c.5140G= (p.Ala1714=)
c.5122G= (p.Ala1708=)
c.5050G= (p.Ala1684=)
c.5077G= (p.Ala1693=)
c.5080G= (p.Ala1694=)
c.5119G= (p.Ala1707=)
c.5089G= (p.Ala1697=)
n.1911G=
c.4984G= (p.Ala1662=)
c.5047G= (p.Ala1683=)
c.4987G= (p.Ala1663=)
c.5185G= (p.Ala1729=)
c.5182G= (p.Ala1728=)
n.5343G=
2g.71664407G>TCA1707253DYSFc.2557G>T (p.Ala853Ser)
c.1774G>T (p.Ala592Ser)
c.1882G>T (p.Ala628Ser)
c.5026G>T (p.Ala1676Ser)
c.5143G>T (p.Ala1715Ser)
c.5029G>T (p.Ala1677Ser)
c.5092G>T (p.Ala1698Ser)
c.5140G>T (p.Ala1714Ser)
c.5122G>T (p.Ala1708Ser)
c.5050G>T (p.Ala1684Ser)
c.5077G>T (p.Ala1693Ser)
c.5080G>T (p.Ala1694Ser)
c.5119G>T (p.Ala1707Ser)
c.5089G>T (p.Ala1697Ser)
n.1911G>T
c.4984G>T (p.Ala1662Ser)
c.5047G>T (p.Ala1683Ser)
c.4987G>T (p.Ala1663Ser)
c.5185G>T (p.Ala1729Ser)
c.5182G>T (p.Ala1728Ser)
n.5343G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664408C>ACA1707254DYSFc.2558C>A (p.Ala853Asp)
c.1775C>A (p.Ala592Asp)
c.1883C>A (p.Ala628Asp)
c.5027C>A (p.Ala1676Asp)
c.5144C>A (p.Ala1715Asp)
c.5030C>A (p.Ala1677Asp)
c.5093C>A (p.Ala1698Asp)
c.5141C>A (p.Ala1714Asp)
c.5123C>A (p.Ala1708Asp)
c.5051C>A (p.Ala1684Asp)
c.5078C>A (p.Ala1693Asp)
c.5081C>A (p.Ala1694Asp)
c.5120C>A (p.Ala1707Asp)
c.5090C>A (p.Ala1697Asp)
n.1912C>A
c.4985C>A (p.Ala1662Asp)
c.5048C>A (p.Ala1683Asp)
c.4988C>A (p.Ala1663Asp)
c.5186C>A (p.Ala1729Asp)
c.5183C>A (p.Ala1728Asp)
n.5344C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664408C=CA1260149789DYSFc.2558C= (p.Ala853=)
c.1775C= (p.Ala592=)
c.1883C= (p.Ala628=)
c.5027C= (p.Ala1676=)
c.5144C= (p.Ala1715=)
c.5030C= (p.Ala1677=)
c.5093C= (p.Ala1698=)
c.5141C= (p.Ala1714=)
c.5123C= (p.Ala1708=)
c.5051C= (p.Ala1684=)
c.5078C= (p.Ala1693=)
c.5081C= (p.Ala1694=)
c.5120C= (p.Ala1707=)
c.5090C= (p.Ala1697=)
n.1912C=
c.4985C= (p.Ala1662=)
c.5048C= (p.Ala1683=)
c.4988C= (p.Ala1663=)
c.5186C= (p.Ala1729=)
c.5183C= (p.Ala1728=)
n.5344C=
2g.71664408C>GCA347220588DYSFc.2558C>G (p.Ala853Gly)
c.1775C>G (p.Ala592Gly)
c.1883C>G (p.Ala628Gly)
c.5027C>G (p.Ala1676Gly)
c.5144C>G (p.Ala1715Gly)
c.5030C>G (p.Ala1677Gly)
c.5093C>G (p.Ala1698Gly)
c.5141C>G (p.Ala1714Gly)
c.5123C>G (p.Ala1708Gly)
c.5051C>G (p.Ala1684Gly)
c.5078C>G (p.Ala1693Gly)
c.5081C>G (p.Ala1694Gly)
c.5120C>G (p.Ala1707Gly)
c.5090C>G (p.Ala1697Gly)
n.1912C>G
c.4985C>G (p.Ala1662Gly)
c.5048C>G (p.Ala1683Gly)
c.4988C>G (p.Ala1663Gly)
c.5186C>G (p.Ala1729Gly)
c.5183C>G (p.Ala1728Gly)
n.5344C>G
2g.71664408C>TCA347220590DYSFc.2558C>T (p.Ala853Val)
c.1775C>T (p.Ala592Val)
c.1883C>T (p.Ala628Val)
c.5027C>T (p.Ala1676Val)
c.5144C>T (p.Ala1715Val)
c.5030C>T (p.Ala1677Val)
c.5093C>T (p.Ala1698Val)
c.5141C>T (p.Ala1714Val)
c.5123C>T (p.Ala1708Val)
c.5051C>T (p.Ala1684Val)
c.5078C>T (p.Ala1693Val)
c.5081C>T (p.Ala1694Val)
c.5120C>T (p.Ala1707Val)
c.5090C>T (p.Ala1697Val)
n.1912C>T
c.4985C>T (p.Ala1662Val)
c.5048C>T (p.Ala1683Val)
c.4988C>T (p.Ala1663Val)
c.5186C>T (p.Ala1729Val)
c.5183C>T (p.Ala1728Val)
n.5344C>T
2g.71664409T>ACA426703978DYSFc.2559T>A (p.Ala853=)
c.1776T>A (p.Ala592=)
c.1884T>A (p.Ala628=)
c.5028T>A (p.Ala1676=)
c.5145T>A (p.Ala1715=)
c.5031T>A (p.Ala1677=)
c.5094T>A (p.Ala1698=)
c.5142T>A (p.Ala1714=)
c.5124T>A (p.Ala1708=)
c.5052T>A (p.Ala1684=)
c.5079T>A (p.Ala1693=)
c.5082T>A (p.Ala1694=)
c.5121T>A (p.Ala1707=)
c.5091T>A (p.Ala1697=)
n.1913T>A
c.4986T>A (p.Ala1662=)
c.5049T>A (p.Ala1683=)
c.4989T>A (p.Ala1663=)
c.5187T>A (p.Ala1729=)
c.5184T>A (p.Ala1728=)
n.5345T>A
2g.71664409T>CCA426703979DYSFc.2559T>C (p.Ala853=)
c.1776T>C (p.Ala592=)
c.1884T>C (p.Ala628=)
c.5028T>C (p.Ala1676=)
c.5145T>C (p.Ala1715=)
c.5031T>C (p.Ala1677=)
c.5094T>C (p.Ala1698=)
c.5142T>C (p.Ala1714=)
c.5124T>C (p.Ala1708=)
c.5052T>C (p.Ala1684=)
c.5079T>C (p.Ala1693=)
c.5082T>C (p.Ala1694=)
c.5121T>C (p.Ala1707=)
c.5091T>C (p.Ala1697=)
n.1913T>C
c.4986T>C (p.Ala1662=)
c.5049T>C (p.Ala1683=)
c.4989T>C (p.Ala1663=)
c.5187T>C (p.Ala1729=)
c.5184T>C (p.Ala1728=)
n.5345T>C
2g.71664409T>GCA426703980DYSFc.2559T>G (p.Ala853=)
c.1776T>G (p.Ala592=)
c.1884T>G (p.Ala628=)
c.5028T>G (p.Ala1676=)
c.5145T>G (p.Ala1715=)
c.5031T>G (p.Ala1677=)
c.5094T>G (p.Ala1698=)
c.5142T>G (p.Ala1714=)
c.5124T>G (p.Ala1708=)
c.5052T>G (p.Ala1684=)
c.5079T>G (p.Ala1693=)
c.5082T>G (p.Ala1694=)
c.5121T>G (p.Ala1707=)
c.5091T>G (p.Ala1697=)
n.1913T>G
c.4986T>G (p.Ala1662=)
c.5049T>G (p.Ala1683=)
c.4989T>G (p.Ala1663=)
c.5187T>G (p.Ala1729=)
c.5184T>G (p.Ala1728=)
n.5345T>G
2g.71664410C>ACA347220594DYSFc.2560C>A (p.Arg854Ser)
c.1777C>A (p.Arg593Ser)
c.1885C>A (p.Arg629Ser)
c.5029C>A (p.Arg1677Ser)
c.5146C>A (p.Arg1716Ser)
c.5032C>A (p.Arg1678Ser)
c.5095C>A (p.Arg1699Ser)
c.5143C>A (p.Arg1715Ser)
c.5125C>A (p.Arg1709Ser)
c.5053C>A (p.Arg1685Ser)
c.5080C>A (p.Arg1694Ser)
c.5083C>A (p.Arg1695Ser)
c.5122C>A (p.Arg1708Ser)
c.5092C>A (p.Arg1698Ser)
n.1914C>A
c.4987C>A (p.Arg1663Ser)
c.5050C>A (p.Arg1684Ser)
c.4990C>A (p.Arg1664Ser)
c.5188C>A (p.Arg1730Ser)
c.5185C>A (p.Arg1729Ser)
n.5346C>A
2g.71664410C=CA1260149790DYSFc.2560C= (p.Arg854=)
c.1777C= (p.Arg593=)
c.1885C= (p.Arg629=)
c.5029C= (p.Arg1677=)
c.5146C= (p.Arg1716=)
c.5032C= (p.Arg1678=)
c.5095C= (p.Arg1699=)
c.5143C= (p.Arg1715=)
c.5125C= (p.Arg1709=)
c.5053C= (p.Arg1685=)
c.5080C= (p.Arg1694=)
c.5083C= (p.Arg1695=)
c.5122C= (p.Arg1708=)
c.5092C= (p.Arg1698=)
n.1914C=
c.4987C= (p.Arg1663=)
c.5050C= (p.Arg1684=)
c.4990C= (p.Arg1664=)
c.5188C= (p.Arg1730=)
c.5185C= (p.Arg1729=)
n.5346C=
2g.71664410C>GCA347220593DYSFc.2560C>G (p.Arg854Gly)
c.1777C>G (p.Arg593Gly)
c.1885C>G (p.Arg629Gly)
c.5029C>G (p.Arg1677Gly)
c.5146C>G (p.Arg1716Gly)
c.5032C>G (p.Arg1678Gly)
c.5095C>G (p.Arg1699Gly)
c.5143C>G (p.Arg1715Gly)
c.5125C>G (p.Arg1709Gly)
c.5053C>G (p.Arg1685Gly)
c.5080C>G (p.Arg1694Gly)
c.5083C>G (p.Arg1695Gly)
c.5122C>G (p.Arg1708Gly)
c.5092C>G (p.Arg1698Gly)
n.1914C>G
c.4987C>G (p.Arg1663Gly)
c.5050C>G (p.Arg1684Gly)
c.4990C>G (p.Arg1664Gly)
c.5188C>G (p.Arg1730Gly)
c.5185C>G (p.Arg1729Gly)
n.5346C>G
2g.71664410C>TCA1707255DYSFc.2560C>T (p.Arg854Cys)
c.1777C>T (p.Arg593Cys)
c.1885C>T (p.Arg629Cys)
c.5029C>T (p.Arg1677Cys)
c.5146C>T (p.Arg1716Cys)
c.5032C>T (p.Arg1678Cys)
c.5095C>T (p.Arg1699Cys)
c.5143C>T (p.Arg1715Cys)
c.5125C>T (p.Arg1709Cys)
c.5053C>T (p.Arg1685Cys)
c.5080C>T (p.Arg1694Cys)
c.5083C>T (p.Arg1695Cys)
c.5122C>T (p.Arg1708Cys)
c.5092C>T (p.Arg1698Cys)
n.1914C>T
c.4987C>T (p.Arg1663Cys)
c.5050C>T (p.Arg1684Cys)
c.4990C>T (p.Arg1664Cys)
c.5188C>T (p.Arg1730Cys)
c.5185C>T (p.Arg1729Cys)
n.5346C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71664411G>ACA1707257DYSFc.2561G>A (p.Arg854His)
c.1778G>A (p.Arg593His)
c.1886G>A (p.Arg629His)
c.5030G>A (p.Arg1677His)
c.5147G>A (p.Arg1716His)
c.5033G>A (p.Arg1678His)
c.5096G>A (p.Arg1699His)
c.5144G>A (p.Arg1715His)
c.5126G>A (p.Arg1709His)
c.5054G>A (p.Arg1685His)
c.5081G>A (p.Arg1694His)
c.5084G>A (p.Arg1695His)
c.5123G>A (p.Arg1708His)
c.5093G>A (p.Arg1698His)
n.1915G>A
c.4988G>A (p.Arg1663His)
c.5051G>A (p.Arg1684His)
c.4991G>A (p.Arg1664His)
c.5189G>A (p.Arg1730His)
c.5186G>A (p.Arg1729His)
n.5347G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664411G>CCA347220597DYSFc.2561G>C (p.Arg854Pro)
c.1778G>C (p.Arg593Pro)
c.1886G>C (p.Arg629Pro)
c.5030G>C (p.Arg1677Pro)
c.5147G>C (p.Arg1716Pro)
c.5033G>C (p.Arg1678Pro)
c.5096G>C (p.Arg1699Pro)
c.5144G>C (p.Arg1715Pro)
c.5126G>C (p.Arg1709Pro)
c.5054G>C (p.Arg1685Pro)
c.5081G>C (p.Arg1694Pro)
c.5084G>C (p.Arg1695Pro)
c.5123G>C (p.Arg1708Pro)
c.5093G>C (p.Arg1698Pro)
n.1915G>C
c.4988G>C (p.Arg1663Pro)
c.5051G>C (p.Arg1684Pro)
c.4991G>C (p.Arg1664Pro)
c.5189G>C (p.Arg1730Pro)
c.5186G>C (p.Arg1729Pro)
n.5347G>C
2g.71664411G=CA1260149791DYSFc.2561G= (p.Arg854=)
c.1778G= (p.Arg593=)
c.1886G= (p.Arg629=)
c.5030G= (p.Arg1677=)
c.5147G= (p.Arg1716=)
c.5033G= (p.Arg1678=)
c.5096G= (p.Arg1699=)
c.5144G= (p.Arg1715=)
c.5126G= (p.Arg1709=)
c.5054G= (p.Arg1685=)
c.5081G= (p.Arg1694=)
c.5084G= (p.Arg1695=)
c.5123G= (p.Arg1708=)
c.5093G= (p.Arg1698=)
n.1915G=
c.4988G= (p.Arg1663=)
c.5051G= (p.Arg1684=)
c.4991G= (p.Arg1664=)
c.5189G= (p.Arg1730=)
c.5186G= (p.Arg1729=)
n.5347G=
2g.71664411G>TCA1707256DYSFc.2561G>T (p.Arg854Leu)
c.1778G>T (p.Arg593Leu)
c.1886G>T (p.Arg629Leu)
c.5030G>T (p.Arg1677Leu)
c.5147G>T (p.Arg1716Leu)
c.5033G>T (p.Arg1678Leu)
c.5096G>T (p.Arg1699Leu)
c.5144G>T (p.Arg1715Leu)
c.5126G>T (p.Arg1709Leu)
c.5054G>T (p.Arg1685Leu)
c.5081G>T (p.Arg1694Leu)
c.5084G>T (p.Arg1695Leu)
c.5123G>T (p.Arg1708Leu)
c.5093G>T (p.Arg1698Leu)
n.1915G>T
c.4988G>T (p.Arg1663Leu)
c.5051G>T (p.Arg1684Leu)
c.4991G>T (p.Arg1664Leu)
c.5189G>T (p.Arg1730Leu)
c.5186G>T (p.Arg1729Leu)
n.5347G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71664411_71664432delinsGCTGTGGACTCCCACAGACCTACA1260149792DYSFc.2561_2582delinsGCTGTGGACTCCCACAGACCTA (p.Arg854=)
c.1778_1799delinsGCTGTGGACTCCCACAGACCTA (p.Arg593=)
c.1886_1907delinsGCTGTGGACTCCCACAGACCTA (p.Arg629=)
c.5030_5051delinsGCTGTGGACTCCCACAGACCTA (p.Arg1677=)
c.5147_5168delinsGCTGTGGACTCCCACAGACCTA (p.Arg1716=)
c.5033_5054delinsGCTGTGGACTCCCACAGACCTA (p.Arg1678=)
c.5096_5117delinsGCTGTGGACTCCCACAGACCTA (p.Arg1699=)
c.5144_5165delinsGCTGTGGACTCCCACAGACCTA (p.Arg1715=)
c.5126_5147delinsGCTGTGGACTCCCACAGACCTA (p.Arg1709=)
c.5054_5075delinsGCTGTGGACTCCCACAGACCTA (p.Arg1685=)
c.5081_5102delinsGCTGTGGACTCCCACAGACCTA (p.Arg1694=)
c.5084_5105delinsGCTGTGGACTCCCACAGACCTA (p.Arg1695=)
c.5123_5144delinsGCTGTGGACTCCCACAGACCTA (p.Arg1708=)
c.5093_5114delinsGCTGTGGACTCCCACAGACCTA (p.Arg1698=)
n.1915_1936delinsGCTGTGGACTCCCACAGACCTA
c.4988_5009delinsGCTGTGGACTCCCACAGACCTA (p.Arg1663=)
c.5051_5072delinsGCTGTGGACTCCCACAGACCTA (p.Arg1684=)
c.4991_5012delinsGCTGTGGACTCCCACAGACCTA (p.Arg1664=)
c.5189_5210delinsGCTGTGGACTCCCACAGACCTA (p.Arg1730=)
c.5186_5207delinsGCTGTGGACTCCCACAGACCTA (p.Arg1729=)
n.5347_5368delinsGCTGTGGACTCCCACAGACCTA
2g.71664412C>ACA426703983DYSFc.2562C>A (p.Arg854=)
c.1779C>A (p.Arg593=)
c.1887C>A (p.Arg629=)
c.5031C>A (p.Arg1677=)
c.5148C>A (p.Arg1716=)
c.5034C>A (p.Arg1678=)
c.5097C>A (p.Arg1699=)
c.5145C>A (p.Arg1715=)
c.5127C>A (p.Arg1709=)
c.5055C>A (p.Arg1685=)
c.5082C>A (p.Arg1694=)
c.5085C>A (p.Arg1695=)
c.5124C>A (p.Arg1708=)
c.5094C>A (p.Arg1698=)
n.1916C>A
c.4989C>A (p.Arg1663=)
c.5052C>A (p.Arg1684=)
c.4992C>A (p.Arg1664=)
c.5190C>A (p.Arg1730=)
c.5187C>A (p.Arg1729=)
n.5348C>A
2g.71664412C>GCA426703984DYSFc.2562C>G (p.Arg854=)
c.1779C>G (p.Arg593=)
c.1887C>G (p.Arg629=)
c.5031C>G (p.Arg1677=)
c.5148C>G (p.Arg1716=)
c.5034C>G (p.Arg1678=)
c.5097C>G (p.Arg1699=)
c.5145C>G (p.Arg1715=)
c.5127C>G (p.Arg1709=)
c.5055C>G (p.Arg1685=)
c.5082C>G (p.Arg1694=)
c.5085C>G (p.Arg1695=)
c.5124C>G (p.Arg1708=)
c.5094C>G (p.Arg1698=)
n.1916C>G
c.4989C>G (p.Arg1663=)
c.5052C>G (p.Arg1684=)
c.4992C>G (p.Arg1664=)
c.5190C>G (p.Arg1730=)
c.5187C>G (p.Arg1729=)
n.5348C>G
2g.71664412C>TCA426703982DYSFc.2562C>T (p.Arg854=)
c.1779C>T (p.Arg593=)
c.1887C>T (p.Arg629=)
c.5031C>T (p.Arg1677=)
c.5148C>T (p.Arg1716=)
c.5034C>T (p.Arg1678=)
c.5097C>T (p.Arg1699=)
c.5145C>T (p.Arg1715=)
c.5127C>T (p.Arg1709=)
c.5055C>T (p.Arg1685=)
c.5082C>T (p.Arg1694=)
c.5085C>T (p.Arg1695=)
c.5124C>T (p.Arg1708=)
c.5094C>T (p.Arg1698=)
n.1916C>T
c.4989C>T (p.Arg1663=)
c.5052C>T (p.Arg1684=)
c.4992C>T (p.Arg1664=)
c.5190C>T (p.Arg1730=)
c.5187C>T (p.Arg1729=)
n.5348C>T
2g.71664417_71664437delCA892665273DYSFc.2567_2587del (p.Gly856_Cys862del)
c.1784_1804del (p.Gly595_Cys601del)
c.1892_1912del (p.Gly631_Cys637del)
c.5036_5056del (p.Gly1679_Cys1685del)
c.5153_5173del (p.Gly1718_Cys1724del)
c.5039_5059del (p.Gly1680_Cys1686del)
c.5102_5122del (p.Gly1701_Cys1707del)
c.5150_5170del (p.Gly1717_Cys1723del)
c.5132_5152del (p.Gly1711_Cys1717del)
c.5060_5080del (p.Gly1687_Cys1693del)
c.5087_5107del (p.Gly1696_Cys1702del)
c.5090_5110del (p.Gly1697_Cys1703del)
c.5129_5149del (p.Gly1710_Cys1716del)
c.5099_5119del (p.Gly1700_Cys1706del)
n.1921_1941del
c.4994_5014del (p.Gly1665_Cys1671del)
c.5057_5077del (p.Gly1686_Cys1692del)
c.4997_5017del (p.Gly1666_Cys1672del)
c.5195_5215del (p.Gly1732_Cys1738del)
c.5192_5212del (p.Gly1731_Cys1737del)
n.5353_5373del
 dbSNP
2g.71664413T>ACA347220598DYSFc.2563T>A (p.Cys855Ser)
c.1780T>A (p.Cys594Ser)
c.1888T>A (p.Cys630Ser)
c.5032T>A (p.Cys1678Ser)
c.5149T>A (p.Cys1717Ser)
c.5035T>A (p.Cys1679Ser)
c.5098T>A (p.Cys1700Ser)
c.5146T>A (p.Cys1716Ser)
c.5128T>A (p.Cys1710Ser)
c.5056T>A (p.Cys1686Ser)
c.5083T>A (p.Cys1695Ser)
c.5086T>A (p.Cys1696Ser)
c.5125T>A (p.Cys1709Ser)
c.5095T>A (p.Cys1699Ser)
n.1917T>A
c.4990T>A (p.Cys1664Ser)
c.5053T>A (p.Cys1685Ser)
c.4993T>A (p.Cys1665Ser)
c.5191T>A (p.Cys1731Ser)
c.5188T>A (p.Cys1730Ser)
n.5349T>A
2g.71664413T>CCA347220599DYSFc.2563T>C (p.Cys855Arg)
c.1780T>C (p.Cys594Arg)
c.1888T>C (p.Cys630Arg)
c.5032T>C (p.Cys1678Arg)
c.5149T>C (p.Cys1717Arg)
c.5035T>C (p.Cys1679Arg)
c.5098T>C (p.Cys1700Arg)
c.5146T>C (p.Cys1716Arg)
c.5128T>C (p.Cys1710Arg)
c.5056T>C (p.Cys1686Arg)
c.5083T>C (p.Cys1695Arg)
c.5086T>C (p.Cys1696Arg)
c.5125T>C (p.Cys1709Arg)
c.5095T>C (p.Cys1699Arg)
n.1917T>C
c.4990T>C (p.Cys1664Arg)
c.5053T>C (p.Cys1685Arg)
c.4993T>C (p.Cys1665Arg)
c.5191T>C (p.Cys1731Arg)
c.5188T>C (p.Cys1730Arg)
n.5349T>C
 ClinVar gnomAD v4
2g.71664413T>GCA1707258DYSFc.2563T>G (p.Cys855Gly)
c.1780T>G (p.Cys594Gly)
c.1888T>G (p.Cys630Gly)
c.5032T>G (p.Cys1678Gly)
c.5149T>G (p.Cys1717Gly)
c.5035T>G (p.Cys1679Gly)
c.5098T>G (p.Cys1700Gly)
c.5146T>G (p.Cys1716Gly)
c.5128T>G (p.Cys1710Gly)
c.5056T>G (p.Cys1686Gly)
c.5083T>G (p.Cys1695Gly)
c.5086T>G (p.Cys1696Gly)
c.5125T>G (p.Cys1709Gly)
c.5095T>G (p.Cys1699Gly)
n.1917T>G
c.4990T>G (p.Cys1664Gly)
c.5053T>G (p.Cys1685Gly)
c.4993T>G (p.Cys1665Gly)
c.5191T>G (p.Cys1731Gly)
c.5188T>G (p.Cys1730Gly)
n.5349T>G
 dbSNP ExAC gnomAD v2
2g.71664413T=CA1260149793DYSFc.2563T= (p.Cys855=)
c.1780T= (p.Cys594=)
c.1888T= (p.Cys630=)
c.5032T= (p.Cys1678=)
c.5149T= (p.Cys1717=)
c.5035T= (p.Cys1679=)
c.5098T= (p.Cys1700=)
c.5146T= (p.Cys1716=)
c.5128T= (p.Cys1710=)
c.5056T= (p.Cys1686=)
c.5083T= (p.Cys1695=)
c.5086T= (p.Cys1696=)
c.5125T= (p.Cys1709=)
c.5095T= (p.Cys1699=)
n.1917T=
c.4990T= (p.Cys1664=)
c.5053T= (p.Cys1685=)
c.4993T= (p.Cys1665=)
c.5191T= (p.Cys1731=)
c.5188T= (p.Cys1730=)
n.5349T=
2g.71664414G>ACA10606239DYSFc.2564G>A (p.Cys855Tyr)
c.1781G>A (p.Cys594Tyr)
c.1889G>A (p.Cys630Tyr)
c.5033G>A (p.Cys1678Tyr)
c.5150G>A (p.Cys1717Tyr)
c.5036G>A (p.Cys1679Tyr)
c.5099G>A (p.Cys1700Tyr)
c.5147G>A (p.Cys1716Tyr)
c.5129G>A (p.Cys1710Tyr)
c.5057G>A (p.Cys1686Tyr)
c.5084G>A (p.Cys1695Tyr)
c.5087G>A (p.Cys1696Tyr)
c.5126G>A (p.Cys1709Tyr)
c.5096G>A (p.Cys1699Tyr)
n.1918G>A
c.4991G>A (p.Cys1664Tyr)
c.5054G>A (p.Cys1685Tyr)
c.4994G>A (p.Cys1665Tyr)
c.5192G>A (p.Cys1731Tyr)
c.5189G>A (p.Cys1730Tyr)
n.5350G>A
 ClinVar dbSNP
2g.71664414G>CCA1707259DYSFc.2564G>C (p.Cys855Ser)
c.1781G>C (p.Cys594Ser)
c.1889G>C (p.Cys630Ser)
c.5033G>C (p.Cys1678Ser)
c.5150G>C (p.Cys1717Ser)
c.5036G>C (p.Cys1679Ser)
c.5099G>C (p.Cys1700Ser)
c.5147G>C (p.Cys1716Ser)
c.5129G>C (p.Cys1710Ser)
c.5057G>C (p.Cys1686Ser)
c.5084G>C (p.Cys1695Ser)
c.5087G>C (p.Cys1696Ser)
c.5126G>C (p.Cys1709Ser)
c.5096G>C (p.Cys1699Ser)
n.1918G>C
c.4991G>C (p.Cys1664Ser)
c.5054G>C (p.Cys1685Ser)
c.4994G>C (p.Cys1665Ser)
c.5192G>C (p.Cys1731Ser)
c.5189G>C (p.Cys1730Ser)
n.5350G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664414G=CA1260149794DYSFc.2564G= (p.Cys855=)
c.1781G= (p.Cys594=)
c.1889G= (p.Cys630=)
c.5033G= (p.Cys1678=)
c.5150G= (p.Cys1717=)
c.5036G= (p.Cys1679=)
c.5099G= (p.Cys1700=)
c.5147G= (p.Cys1716=)
c.5129G= (p.Cys1710=)
c.5057G= (p.Cys1686=)
c.5084G= (p.Cys1695=)
c.5087G= (p.Cys1696=)
c.5126G= (p.Cys1709=)
c.5096G= (p.Cys1699=)
n.1918G=
c.4991G= (p.Cys1664=)
c.5054G= (p.Cys1685=)
c.4994G= (p.Cys1665=)
c.5192G= (p.Cys1731=)
c.5189G= (p.Cys1730=)
n.5350G=
2g.71664414G>TCA1707260DYSFc.2564G>T (p.Cys855Phe)
c.1781G>T (p.Cys594Phe)
c.1889G>T (p.Cys630Phe)
c.5033G>T (p.Cys1678Phe)
c.5150G>T (p.Cys1717Phe)
c.5036G>T (p.Cys1679Phe)
c.5099G>T (p.Cys1700Phe)
c.5147G>T (p.Cys1716Phe)
c.5129G>T (p.Cys1710Phe)
c.5057G>T (p.Cys1686Phe)
c.5084G>T (p.Cys1695Phe)
c.5087G>T (p.Cys1696Phe)
c.5126G>T (p.Cys1709Phe)
c.5096G>T (p.Cys1699Phe)
n.1918G>T
c.4991G>T (p.Cys1664Phe)
c.5054G>T (p.Cys1685Phe)
c.4994G>T (p.Cys1665Phe)
c.5192G>T (p.Cys1731Phe)
c.5189G>T (p.Cys1730Phe)
n.5350G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664415T>ACA347220604DYSFc.2565T>A (p.Cys855Ter)
c.1782T>A (p.Cys594Ter)
c.1890T>A (p.Cys630Ter)
c.5034T>A (p.Cys1678Ter)
c.5151T>A (p.Cys1717Ter)
c.5037T>A (p.Cys1679Ter)
c.5100T>A (p.Cys1700Ter)
c.5148T>A (p.Cys1716Ter)
c.5130T>A (p.Cys1710Ter)
c.5058T>A (p.Cys1686Ter)
c.5085T>A (p.Cys1695Ter)
c.5088T>A (p.Cys1696Ter)
c.5127T>A (p.Cys1709Ter)
c.5097T>A (p.Cys1699Ter)
n.1919T>A
c.4992T>A (p.Cys1664Ter)
c.5055T>A (p.Cys1685Ter)
c.4995T>A (p.Cys1665Ter)
c.5193T>A (p.Cys1731Ter)
c.5190T>A (p.Cys1730Ter)
n.5351T>A
2g.71664415T>CCA426703985DYSFc.2565T>C (p.Cys855=)
c.1782T>C (p.Cys594=)
c.1890T>C (p.Cys630=)
c.5034T>C (p.Cys1678=)
c.5151T>C (p.Cys1717=)
c.5037T>C (p.Cys1679=)
c.5100T>C (p.Cys1700=)
c.5148T>C (p.Cys1716=)
c.5130T>C (p.Cys1710=)
c.5058T>C (p.Cys1686=)
c.5085T>C (p.Cys1695=)
c.5088T>C (p.Cys1696=)
c.5127T>C (p.Cys1709=)
c.5097T>C (p.Cys1699=)
n.1919T>C
c.4992T>C (p.Cys1664=)
c.5055T>C (p.Cys1685=)
c.4995T>C (p.Cys1665=)
c.5193T>C (p.Cys1731=)
c.5190T>C (p.Cys1730=)
n.5351T>C
 dbSNP gnomAD v2 gnomAD v4
2g.71664415T>GCA347220606DYSFc.2565T>G (p.Cys855Trp)
c.1782T>G (p.Cys594Trp)
c.1890T>G (p.Cys630Trp)
c.5034T>G (p.Cys1678Trp)
c.5151T>G (p.Cys1717Trp)
c.5037T>G (p.Cys1679Trp)
c.5100T>G (p.Cys1700Trp)
c.5148T>G (p.Cys1716Trp)
c.5130T>G (p.Cys1710Trp)
c.5058T>G (p.Cys1686Trp)
c.5085T>G (p.Cys1695Trp)
c.5088T>G (p.Cys1696Trp)
c.5127T>G (p.Cys1709Trp)
c.5097T>G (p.Cys1699Trp)
n.1919T>G
c.4992T>G (p.Cys1664Trp)
c.5055T>G (p.Cys1685Trp)
c.4995T>G (p.Cys1665Trp)
c.5193T>G (p.Cys1731Trp)
c.5190T>G (p.Cys1730Trp)
n.5351T>G
2g.71664415T=CA1260149795DYSFc.2565T= (p.Cys855=)
c.1782T= (p.Cys594=)
c.1890T= (p.Cys630=)
c.5034T= (p.Cys1678=)
c.5151T= (p.Cys1717=)
c.5037T= (p.Cys1679=)
c.5100T= (p.Cys1700=)
c.5148T= (p.Cys1716=)
c.5130T= (p.Cys1710=)
c.5058T= (p.Cys1686=)
c.5085T= (p.Cys1695=)
c.5088T= (p.Cys1696=)
c.5127T= (p.Cys1709=)
c.5097T= (p.Cys1699=)
n.1919T=
c.4992T= (p.Cys1664=)
c.5055T= (p.Cys1685=)
c.4995T= (p.Cys1665=)
c.5193T= (p.Cys1731=)
c.5190T= (p.Cys1730=)
n.5351T=
2g.71664416G>ACA347220608DYSFc.2566G>A (p.Gly856Arg)
c.1783G>A (p.Gly595Arg)
c.1891G>A (p.Gly631Arg)
c.5035G>A (p.Gly1679Arg)
c.5152G>A (p.Gly1718Arg)
c.5038G>A (p.Gly1680Arg)
c.5101G>A (p.Gly1701Arg)
c.5149G>A (p.Gly1717Arg)
c.5131G>A (p.Gly1711Arg)
c.5059G>A (p.Gly1687Arg)
c.5086G>A (p.Gly1696Arg)
c.5089G>A (p.Gly1697Arg)
c.5128G>A (p.Gly1710Arg)
c.5098G>A (p.Gly1700Arg)
n.1920G>A
c.4993G>A (p.Gly1665Arg)
c.5056G>A (p.Gly1686Arg)
c.4996G>A (p.Gly1666Arg)
c.5194G>A (p.Gly1732Arg)
c.5191G>A (p.Gly1731Arg)
n.5352G>A
 gnomAD v4
2g.71664416G>CCA347220609DYSFc.2566G>C (p.Gly856Arg)
c.1783G>C (p.Gly595Arg)
c.1891G>C (p.Gly631Arg)
c.5035G>C (p.Gly1679Arg)
c.5152G>C (p.Gly1718Arg)
c.5038G>C (p.Gly1680Arg)
c.5101G>C (p.Gly1701Arg)
c.5149G>C (p.Gly1717Arg)
c.5131G>C (p.Gly1711Arg)
c.5059G>C (p.Gly1687Arg)
c.5086G>C (p.Gly1696Arg)
c.5089G>C (p.Gly1697Arg)
c.5128G>C (p.Gly1710Arg)
c.5098G>C (p.Gly1700Arg)
n.1920G>C
c.4993G>C (p.Gly1665Arg)
c.5056G>C (p.Gly1686Arg)
c.4996G>C (p.Gly1666Arg)
c.5194G>C (p.Gly1732Arg)
c.5191G>C (p.Gly1731Arg)
n.5352G>C
2g.71664416G>TCA347220611DYSFc.2566G>T (p.Gly856Ter)
c.1783G>T (p.Gly595Ter)
c.1891G>T (p.Gly631Ter)
c.5035G>T (p.Gly1679Ter)
c.5152G>T (p.Gly1718Ter)
c.5038G>T (p.Gly1680Ter)
c.5101G>T (p.Gly1701Ter)
c.5149G>T (p.Gly1717Ter)
c.5131G>T (p.Gly1711Ter)
c.5059G>T (p.Gly1687Ter)
c.5086G>T (p.Gly1696Ter)
c.5089G>T (p.Gly1697Ter)
c.5128G>T (p.Gly1710Ter)
c.5098G>T (p.Gly1700Ter)
n.1920G>T
c.4993G>T (p.Gly1665Ter)
c.5056G>T (p.Gly1686Ter)
c.4996G>T (p.Gly1666Ter)
c.5194G>T (p.Gly1732Ter)
c.5191G>T (p.Gly1731Ter)
n.5352G>T
2g.71664417G>ACA347220615DYSFc.2567G>A (p.Gly856Glu)
c.1784G>A (p.Gly595Glu)
c.1892G>A (p.Gly631Glu)
c.5036G>A (p.Gly1679Glu)
c.5153G>A (p.Gly1718Glu)
c.5039G>A (p.Gly1680Glu)
c.5102G>A (p.Gly1701Glu)
c.5150G>A (p.Gly1717Glu)
c.5132G>A (p.Gly1711Glu)
c.5060G>A (p.Gly1687Glu)
c.5087G>A (p.Gly1696Glu)
c.5090G>A (p.Gly1697Glu)
c.5129G>A (p.Gly1710Glu)
c.5099G>A (p.Gly1700Glu)
n.1921G>A
c.4994G>A (p.Gly1665Glu)
c.5057G>A (p.Gly1686Glu)
c.4997G>A (p.Gly1666Glu)
c.5195G>A (p.Gly1732Glu)
c.5192G>A (p.Gly1731Glu)
n.5353G>A
 gnomAD v4
2g.71664417G>CCA347220616DYSFc.2567G>C (p.Gly856Ala)
c.1784G>C (p.Gly595Ala)
c.1892G>C (p.Gly631Ala)
c.5036G>C (p.Gly1679Ala)
c.5153G>C (p.Gly1718Ala)
c.5039G>C (p.Gly1680Ala)
c.5102G>C (p.Gly1701Ala)
c.5150G>C (p.Gly1717Ala)
c.5132G>C (p.Gly1711Ala)
c.5060G>C (p.Gly1687Ala)
c.5087G>C (p.Gly1696Ala)
c.5090G>C (p.Gly1697Ala)
c.5129G>C (p.Gly1710Ala)
c.5099G>C (p.Gly1700Ala)
n.1921G>C
c.4994G>C (p.Gly1665Ala)
c.5057G>C (p.Gly1686Ala)
c.4997G>C (p.Gly1666Ala)
c.5195G>C (p.Gly1732Ala)
c.5192G>C (p.Gly1731Ala)
n.5353G>C
2g.71664417G=CA1260149796DYSFc.2567G= (p.Gly856=)
c.1784G= (p.Gly595=)
c.1892G= (p.Gly631=)
c.5036G= (p.Gly1679=)
c.5153G= (p.Gly1718=)
c.5039G= (p.Gly1680=)
c.5102G= (p.Gly1701=)
c.5150G= (p.Gly1717=)
c.5132G= (p.Gly1711=)
c.5060G= (p.Gly1687=)
c.5087G= (p.Gly1696=)
c.5090G= (p.Gly1697=)
c.5129G= (p.Gly1710=)
c.5099G= (p.Gly1700=)
n.1921G=
c.4994G= (p.Gly1665=)
c.5057G= (p.Gly1686=)
c.4997G= (p.Gly1666=)
c.5195G= (p.Gly1732=)
c.5192G= (p.Gly1731=)
n.5353G=
2g.71664417G>TCA347220613DYSFc.2567G>T (p.Gly856Val)
c.1784G>T (p.Gly595Val)
c.1892G>T (p.Gly631Val)
c.5036G>T (p.Gly1679Val)
c.5153G>T (p.Gly1718Val)
c.5039G>T (p.Gly1680Val)
c.5102G>T (p.Gly1701Val)
c.5150G>T (p.Gly1717Val)
c.5132G>T (p.Gly1711Val)
c.5060G>T (p.Gly1687Val)
c.5087G>T (p.Gly1696Val)
c.5090G>T (p.Gly1697Val)
c.5129G>T (p.Gly1710Val)
c.5099G>T (p.Gly1700Val)
n.1921G>T
c.4994G>T (p.Gly1665Val)
c.5057G>T (p.Gly1686Val)
c.4997G>T (p.Gly1666Val)
c.5195G>T (p.Gly1732Val)
c.5192G>T (p.Gly1731Val)
n.5353G>T
2g.71664418A=CA1260149797DYSFc.2568A= (p.Gly856=)
c.1785A= (p.Gly595=)
c.1893A= (p.Gly631=)
c.5037A= (p.Gly1679=)
c.5154A= (p.Gly1718=)
c.5040A= (p.Gly1680=)
c.5103A= (p.Gly1701=)
c.5151A= (p.Gly1717=)
c.5133A= (p.Gly1711=)
c.5061A= (p.Gly1687=)
c.5088A= (p.Gly1696=)
c.5091A= (p.Gly1697=)
c.5130A= (p.Gly1710=)
c.5100A= (p.Gly1700=)
n.1922A=
c.4995A= (p.Gly1665=)
c.5058A= (p.Gly1686=)
c.4998A= (p.Gly1666=)
c.5196A= (p.Gly1732=)
c.5193A= (p.Gly1731=)
n.5354A=
2g.71664418A>CCA426703988DYSFc.2568A>C (p.Gly856=)
c.1785A>C (p.Gly595=)
c.1893A>C (p.Gly631=)
c.5037A>C (p.Gly1679=)
c.5154A>C (p.Gly1718=)
c.5040A>C (p.Gly1680=)
c.5103A>C (p.Gly1701=)
c.5151A>C (p.Gly1717=)
c.5133A>C (p.Gly1711=)
c.5061A>C (p.Gly1687=)
c.5088A>C (p.Gly1696=)
c.5091A>C (p.Gly1697=)
c.5130A>C (p.Gly1710=)
c.5100A>C (p.Gly1700=)
n.1922A>C
c.4995A>C (p.Gly1665=)
c.5058A>C (p.Gly1686=)
c.4998A>C (p.Gly1666=)
c.5196A>C (p.Gly1732=)
c.5193A>C (p.Gly1731=)
n.5354A>C
2g.71664418A>GCA426703986DYSFc.2568A>G (p.Gly856=)
c.1785A>G (p.Gly595=)
c.1893A>G (p.Gly631=)
c.5037A>G (p.Gly1679=)
c.5154A>G (p.Gly1718=)
c.5040A>G (p.Gly1680=)
c.5103A>G (p.Gly1701=)
c.5151A>G (p.Gly1717=)
c.5133A>G (p.Gly1711=)
c.5061A>G (p.Gly1687=)
c.5088A>G (p.Gly1696=)
c.5091A>G (p.Gly1697=)
c.5130A>G (p.Gly1710=)
c.5100A>G (p.Gly1700=)
n.1922A>G
c.4995A>G (p.Gly1665=)
c.5058A>G (p.Gly1686=)
c.4998A>G (p.Gly1666=)
c.5196A>G (p.Gly1732=)
c.5193A>G (p.Gly1731=)
n.5354A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71664418A>TCA426703987DYSFc.2568A>T (p.Gly856=)
c.1785A>T (p.Gly595=)
c.1893A>T (p.Gly631=)
c.5037A>T (p.Gly1679=)
c.5154A>T (p.Gly1718=)
c.5040A>T (p.Gly1680=)
c.5103A>T (p.Gly1701=)
c.5151A>T (p.Gly1717=)
c.5133A>T (p.Gly1711=)
c.5061A>T (p.Gly1687=)
c.5088A>T (p.Gly1696=)
c.5091A>T (p.Gly1697=)
c.5130A>T (p.Gly1710=)
c.5100A>T (p.Gly1700=)
n.1922A>T
c.4995A>T (p.Gly1665=)
c.5058A>T (p.Gly1686=)
c.4998A>T (p.Gly1666=)
c.5196A>T (p.Gly1732=)
c.5193A>T (p.Gly1731=)
n.5354A>T
2g.71664420_71664442dupCA253905DYSFc.2570_2588+4dup
c.1787_1805+4dup
c.1895_1913+4dup
c.5039_5057+4dup
c.5156_5174+4dup
c.5042_5060+4dup
c.5105_5123+4dup
c.5153_5171+4dup
c.5135_5153+4dup
c.5063_5081+4dup
c.5090_5108+4dup
c.5093_5111+4dup
c.5132_5150+4dup
c.5102_5120+4dup
n.1924_1942+4dup
c.4997_5015+4dup
c.5060_5078+4dup
c.5000_5018+4dup
c.5198_5216+4dup
c.5195_5213+4dup
n.5356_5378dup
 ClinVar dbSNP
2g.71664419C>ACA347220619DYSFc.2569C>A (p.Leu857Ile)
c.1786C>A (p.Leu596Ile)
c.1894C>A (p.Leu632Ile)
c.5038C>A (p.Leu1680Ile)
c.5155C>A (p.Leu1719Ile)
c.5041C>A (p.Leu1681Ile)
c.5104C>A (p.Leu1702Ile)
c.5152C>A (p.Leu1718Ile)
c.5134C>A (p.Leu1712Ile)
c.5062C>A (p.Leu1688Ile)
c.5089C>A (p.Leu1697Ile)
c.5092C>A (p.Leu1698Ile)
c.5131C>A (p.Leu1711Ile)
c.5101C>A (p.Leu1701Ile)
n.1923C>A
c.4996C>A (p.Leu1666Ile)
c.5059C>A (p.Leu1687Ile)
c.4999C>A (p.Leu1667Ile)
c.5197C>A (p.Leu1733Ile)
c.5194C>A (p.Leu1732Ile)
n.5355C>A
2g.71664419C=CA1260149798DYSFc.2569C= (p.Leu857=)
c.1786C= (p.Leu596=)
c.1894C= (p.Leu632=)
c.5038C= (p.Leu1680=)
c.5155C= (p.Leu1719=)
c.5041C= (p.Leu1681=)
c.5104C= (p.Leu1702=)
c.5152C= (p.Leu1718=)
c.5134C= (p.Leu1712=)
c.5062C= (p.Leu1688=)
c.5089C= (p.Leu1697=)
c.5092C= (p.Leu1698=)
c.5131C= (p.Leu1711=)
c.5101C= (p.Leu1701=)
n.1923C=
c.4996C= (p.Leu1666=)
c.5059C= (p.Leu1687=)
c.4999C= (p.Leu1667=)
c.5197C= (p.Leu1733=)
c.5194C= (p.Leu1732=)
n.5355C=
2g.71664419C>GCA347220620DYSFc.2569C>G (p.Leu857Val)
c.1786C>G (p.Leu596Val)
c.1894C>G (p.Leu632Val)
c.5038C>G (p.Leu1680Val)
c.5155C>G (p.Leu1719Val)
c.5041C>G (p.Leu1681Val)
c.5104C>G (p.Leu1702Val)
c.5152C>G (p.Leu1718Val)
c.5134C>G (p.Leu1712Val)
c.5062C>G (p.Leu1688Val)
c.5089C>G (p.Leu1697Val)
c.5092C>G (p.Leu1698Val)
c.5131C>G (p.Leu1711Val)
c.5101C>G (p.Leu1701Val)
n.1923C>G
c.4996C>G (p.Leu1666Val)
c.5059C>G (p.Leu1687Val)
c.4999C>G (p.Leu1667Val)
c.5197C>G (p.Leu1733Val)
c.5194C>G (p.Leu1732Val)
n.5355C>G
2g.71664419C>TCA1707261DYSFc.2569C>T (p.Leu857Phe)
c.1786C>T (p.Leu596Phe)
c.1894C>T (p.Leu632Phe)
c.5038C>T (p.Leu1680Phe)
c.5155C>T (p.Leu1719Phe)
c.5041C>T (p.Leu1681Phe)
c.5104C>T (p.Leu1702Phe)
c.5152C>T (p.Leu1718Phe)
c.5134C>T (p.Leu1712Phe)
c.5062C>T (p.Leu1688Phe)
c.5089C>T (p.Leu1697Phe)
c.5092C>T (p.Leu1698Phe)
c.5131C>T (p.Leu1711Phe)
c.5101C>T (p.Leu1701Phe)
n.1923C>T
c.4996C>T (p.Leu1666Phe)
c.5059C>T (p.Leu1687Phe)
c.4999C>T (p.Leu1667Phe)
c.5197C>T (p.Leu1733Phe)
c.5194C>T (p.Leu1732Phe)
n.5355C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664420T>ACA347220621DYSFc.2570T>A (p.Leu857His)
c.1787T>A (p.Leu596His)
c.1895T>A (p.Leu632His)
c.5039T>A (p.Leu1680His)
c.5156T>A (p.Leu1719His)
c.5042T>A (p.Leu1681His)
c.5105T>A (p.Leu1702His)
c.5153T>A (p.Leu1718His)
c.5135T>A (p.Leu1712His)
c.5063T>A (p.Leu1688His)
c.5090T>A (p.Leu1697His)
c.5093T>A (p.Leu1698His)
c.5132T>A (p.Leu1711His)
c.5102T>A (p.Leu1701His)
n.1924T>A
c.4997T>A (p.Leu1666His)
c.5060T>A (p.Leu1687His)
c.5000T>A (p.Leu1667His)
c.5198T>A (p.Leu1733His)
c.5195T>A (p.Leu1732His)
n.5356T>A
2g.71664420T>CCA347220623DYSFc.2570T>C (p.Leu857Pro)
c.1787T>C (p.Leu596Pro)
c.1895T>C (p.Leu632Pro)
c.5039T>C (p.Leu1680Pro)
c.5156T>C (p.Leu1719Pro)
c.5042T>C (p.Leu1681Pro)
c.5105T>C (p.Leu1702Pro)
c.5153T>C (p.Leu1718Pro)
c.5135T>C (p.Leu1712Pro)
c.5063T>C (p.Leu1688Pro)
c.5090T>C (p.Leu1697Pro)
c.5093T>C (p.Leu1698Pro)
c.5132T>C (p.Leu1711Pro)
c.5102T>C (p.Leu1701Pro)
n.1924T>C
c.4997T>C (p.Leu1666Pro)
c.5060T>C (p.Leu1687Pro)
c.5000T>C (p.Leu1667Pro)
c.5198T>C (p.Leu1733Pro)
c.5195T>C (p.Leu1732Pro)
n.5356T>C
2g.71664420T>GCA347220625DYSFc.2570T>G (p.Leu857Arg)
c.1787T>G (p.Leu596Arg)
c.1895T>G (p.Leu632Arg)
c.5039T>G (p.Leu1680Arg)
c.5156T>G (p.Leu1719Arg)
c.5042T>G (p.Leu1681Arg)
c.5105T>G (p.Leu1702Arg)
c.5153T>G (p.Leu1718Arg)
c.5135T>G (p.Leu1712Arg)
c.5063T>G (p.Leu1688Arg)
c.5090T>G (p.Leu1697Arg)
c.5093T>G (p.Leu1698Arg)
c.5132T>G (p.Leu1711Arg)
c.5102T>G (p.Leu1701Arg)
n.1924T>G
c.4997T>G (p.Leu1666Arg)
c.5060T>G (p.Leu1687Arg)
c.5000T>G (p.Leu1667Arg)
c.5198T>G (p.Leu1733Arg)
c.5195T>G (p.Leu1732Arg)
n.5356T>G
2g.71664421C>ACA426703990DYSFc.2571C>A (p.Leu857=)
c.1788C>A (p.Leu596=)
c.1896C>A (p.Leu632=)
c.5040C>A (p.Leu1680=)
c.5157C>A (p.Leu1719=)
c.5043C>A (p.Leu1681=)
c.5106C>A (p.Leu1702=)
c.5154C>A (p.Leu1718=)
c.5136C>A (p.Leu1712=)
c.5064C>A (p.Leu1688=)
c.5091C>A (p.Leu1697=)
c.5094C>A (p.Leu1698=)
c.5133C>A (p.Leu1711=)
c.5103C>A (p.Leu1701=)
n.1925C>A
c.4998C>A (p.Leu1666=)
c.5061C>A (p.Leu1687=)
c.5001C>A (p.Leu1667=)
c.5199C>A (p.Leu1733=)
c.5196C>A (p.Leu1732=)
n.5357C>A
2g.71664421C>GCA426703991DYSFc.2571C>G (p.Leu857=)
c.1788C>G (p.Leu596=)
c.1896C>G (p.Leu632=)
c.5040C>G (p.Leu1680=)
c.5157C>G (p.Leu1719=)
c.5043C>G (p.Leu1681=)
c.5106C>G (p.Leu1702=)
c.5154C>G (p.Leu1718=)
c.5136C>G (p.Leu1712=)
c.5064C>G (p.Leu1688=)
c.5091C>G (p.Leu1697=)
c.5094C>G (p.Leu1698=)
c.5133C>G (p.Leu1711=)
c.5103C>G (p.Leu1701=)
n.1925C>G
c.4998C>G (p.Leu1666=)
c.5061C>G (p.Leu1687=)
c.5001C>G (p.Leu1667=)
c.5199C>G (p.Leu1733=)
c.5196C>G (p.Leu1732=)
n.5357C>G
 COSMIC COSMIC
2g.71664421C>TCA426703992DYSFc.2571C>T (p.Leu857=)
c.1788C>T (p.Leu596=)
c.1896C>T (p.Leu632=)
c.5040C>T (p.Leu1680=)
c.5157C>T (p.Leu1719=)
c.5043C>T (p.Leu1681=)
c.5106C>T (p.Leu1702=)
c.5154C>T (p.Leu1718=)
c.5136C>T (p.Leu1712=)
c.5064C>T (p.Leu1688=)
c.5091C>T (p.Leu1697=)
c.5094C>T (p.Leu1698=)
c.5133C>T (p.Leu1711=)
c.5103C>T (p.Leu1701=)
n.1925C>T
c.4998C>T (p.Leu1666=)
c.5061C>T (p.Leu1687=)
c.5001C>T (p.Leu1667=)
c.5199C>T (p.Leu1733=)
c.5196C>T (p.Leu1732=)
n.5357C>T
2g.71664422C>ACA347220627DYSFc.2572C>A (p.Pro858Thr)
c.1789C>A (p.Pro597Thr)
c.1897C>A (p.Pro633Thr)
c.5041C>A (p.Pro1681Thr)
c.5158C>A (p.Pro1720Thr)
c.5044C>A (p.Pro1682Thr)
c.5107C>A (p.Pro1703Thr)
c.5155C>A (p.Pro1719Thr)
c.5137C>A (p.Pro1713Thr)
c.5065C>A (p.Pro1689Thr)
c.5092C>A (p.Pro1698Thr)
c.5095C>A (p.Pro1699Thr)
c.5134C>A (p.Pro1712Thr)
c.5104C>A (p.Pro1702Thr)
n.1926C>A
c.4999C>A (p.Pro1667Thr)
c.5062C>A (p.Pro1688Thr)
c.5002C>A (p.Pro1668Thr)
c.5200C>A (p.Pro1734Thr)
c.5197C>A (p.Pro1733Thr)
n.5358C>A
2g.71664422C=CA1260149799DYSFc.2572C= (p.Pro858=)
c.1789C= (p.Pro597=)
c.1897C= (p.Pro633=)
c.5041C= (p.Pro1681=)
c.5158C= (p.Pro1720=)
c.5044C= (p.Pro1682=)
c.5107C= (p.Pro1703=)
c.5155C= (p.Pro1719=)
c.5137C= (p.Pro1713=)
c.5065C= (p.Pro1689=)
c.5092C= (p.Pro1698=)
c.5095C= (p.Pro1699=)
c.5134C= (p.Pro1712=)
c.5104C= (p.Pro1702=)
n.1926C=
c.4999C= (p.Pro1667=)
c.5062C= (p.Pro1688=)
c.5002C= (p.Pro1668=)
c.5200C= (p.Pro1734=)
c.5197C= (p.Pro1733=)
n.5358C=
2g.71664422C>GCA1707262DYSFc.2572C>G (p.Pro858Ala)
c.1789C>G (p.Pro597Ala)
c.1897C>G (p.Pro633Ala)
c.5041C>G (p.Pro1681Ala)
c.5158C>G (p.Pro1720Ala)
c.5044C>G (p.Pro1682Ala)
c.5107C>G (p.Pro1703Ala)
c.5155C>G (p.Pro1719Ala)
c.5137C>G (p.Pro1713Ala)
c.5065C>G (p.Pro1689Ala)
c.5092C>G (p.Pro1698Ala)
c.5095C>G (p.Pro1699Ala)
c.5134C>G (p.Pro1712Ala)
c.5104C>G (p.Pro1702Ala)
n.1926C>G
c.4999C>G (p.Pro1667Ala)
c.5062C>G (p.Pro1688Ala)
c.5002C>G (p.Pro1668Ala)
c.5200C>G (p.Pro1734Ala)
c.5197C>G (p.Pro1733Ala)
n.5358C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71664422C>TCA347220629DYSFc.2572C>T (p.Pro858Ser)
c.1789C>T (p.Pro597Ser)
c.1897C>T (p.Pro633Ser)
c.5041C>T (p.Pro1681Ser)
c.5158C>T (p.Pro1720Ser)
c.5044C>T (p.Pro1682Ser)
c.5107C>T (p.Pro1703Ser)
c.5155C>T (p.Pro1719Ser)
c.5137C>T (p.Pro1713Ser)
c.5065C>T (p.Pro1689Ser)
c.5092C>T (p.Pro1698Ser)
c.5095C>T (p.Pro1699Ser)
c.5134C>T (p.Pro1712Ser)
c.5104C>T (p.Pro1702Ser)
n.1926C>T
c.4999C>T (p.Pro1667Ser)
c.5062C>T (p.Pro1688Ser)
c.5002C>T (p.Pro1668Ser)
c.5200C>T (p.Pro1734Ser)
c.5197C>T (p.Pro1733Ser)
n.5358C>T
 dbSNP gnomAD v4
2g.71664423C>ACA347220631DYSFc.2573C>A (p.Pro858Gln)
c.1790C>A (p.Pro597Gln)
c.1898C>A (p.Pro633Gln)
c.5042C>A (p.Pro1681Gln)
c.5159C>A (p.Pro1720Gln)
c.5045C>A (p.Pro1682Gln)
c.5108C>A (p.Pro1703Gln)
c.5156C>A (p.Pro1719Gln)
c.5138C>A (p.Pro1713Gln)
c.5066C>A (p.Pro1689Gln)
c.5093C>A (p.Pro1698Gln)
c.5096C>A (p.Pro1699Gln)
c.5135C>A (p.Pro1712Gln)
c.5105C>A (p.Pro1702Gln)
n.1927C>A
c.5000C>A (p.Pro1667Gln)
c.5063C>A (p.Pro1688Gln)
c.5003C>A (p.Pro1668Gln)
c.5201C>A (p.Pro1734Gln)
c.5198C>A (p.Pro1733Gln)
n.5359C>A
2g.71664423C>GCA347220633DYSFc.2573C>G (p.Pro858Arg)
c.1790C>G (p.Pro597Arg)
c.1898C>G (p.Pro633Arg)
c.5042C>G (p.Pro1681Arg)
c.5159C>G (p.Pro1720Arg)
c.5045C>G (p.Pro1682Arg)
c.5108C>G (p.Pro1703Arg)
c.5156C>G (p.Pro1719Arg)
c.5138C>G (p.Pro1713Arg)
c.5066C>G (p.Pro1689Arg)
c.5093C>G (p.Pro1698Arg)
c.5096C>G (p.Pro1699Arg)
c.5135C>G (p.Pro1712Arg)
c.5105C>G (p.Pro1702Arg)
n.1927C>G
c.5000C>G (p.Pro1667Arg)
c.5063C>G (p.Pro1688Arg)
c.5003C>G (p.Pro1668Arg)
c.5201C>G (p.Pro1734Arg)
c.5198C>G (p.Pro1733Arg)
n.5359C>G
2g.71664423C>TCA347220634DYSFc.2573C>T (p.Pro858Leu)
c.1790C>T (p.Pro597Leu)
c.1898C>T (p.Pro633Leu)
c.5042C>T (p.Pro1681Leu)
c.5159C>T (p.Pro1720Leu)
c.5045C>T (p.Pro1682Leu)
c.5108C>T (p.Pro1703Leu)
c.5156C>T (p.Pro1719Leu)
c.5138C>T (p.Pro1713Leu)
c.5066C>T (p.Pro1689Leu)
c.5093C>T (p.Pro1698Leu)
c.5096C>T (p.Pro1699Leu)
c.5135C>T (p.Pro1712Leu)
c.5105C>T (p.Pro1702Leu)
n.1927C>T
c.5000C>T (p.Pro1667Leu)
c.5063C>T (p.Pro1688Leu)
c.5003C>T (p.Pro1668Leu)
c.5201C>T (p.Pro1734Leu)
c.5198C>T (p.Pro1733Leu)
n.5359C>T
2g.71664424A>CCA426703993DYSFc.2574A>C (p.Pro858=)
c.1791A>C (p.Pro597=)
c.1899A>C (p.Pro633=)
c.5043A>C (p.Pro1681=)
c.5160A>C (p.Pro1720=)
c.5046A>C (p.Pro1682=)
c.5109A>C (p.Pro1703=)
c.5157A>C (p.Pro1719=)
c.5139A>C (p.Pro1713=)
c.5067A>C (p.Pro1689=)
c.5094A>C (p.Pro1698=)
c.5097A>C (p.Pro1699=)
c.5136A>C (p.Pro1712=)
c.5106A>C (p.Pro1702=)
n.1928A>C
c.5001A>C (p.Pro1667=)
c.5064A>C (p.Pro1688=)
c.5004A>C (p.Pro1668=)
c.5202A>C (p.Pro1734=)
c.5199A>C (p.Pro1733=)
n.5360A>C
2g.71664424A>GCA426703994DYSFc.2574A>G (p.Pro858=)
c.1791A>G (p.Pro597=)
c.1899A>G (p.Pro633=)
c.5043A>G (p.Pro1681=)
c.5160A>G (p.Pro1720=)
c.5046A>G (p.Pro1682=)
c.5109A>G (p.Pro1703=)
c.5157A>G (p.Pro1719=)
c.5139A>G (p.Pro1713=)
c.5067A>G (p.Pro1689=)
c.5094A>G (p.Pro1698=)
c.5097A>G (p.Pro1699=)
c.5136A>G (p.Pro1712=)
c.5106A>G (p.Pro1702=)
n.1928A>G
c.5001A>G (p.Pro1667=)
c.5064A>G (p.Pro1688=)
c.5004A>G (p.Pro1668=)
c.5202A>G (p.Pro1734=)
c.5199A>G (p.Pro1733=)
n.5360A>G
 ClinVar dbSNP
2g.71664424A>TCA426703995DYSFc.2574A>T (p.Pro858=)
c.1791A>T (p.Pro597=)
c.1899A>T (p.Pro633=)
c.5043A>T (p.Pro1681=)
c.5160A>T (p.Pro1720=)
c.5046A>T (p.Pro1682=)
c.5109A>T (p.Pro1703=)
c.5157A>T (p.Pro1719=)
c.5139A>T (p.Pro1713=)
c.5067A>T (p.Pro1689=)
c.5094A>T (p.Pro1698=)
c.5097A>T (p.Pro1699=)
c.5136A>T (p.Pro1712=)
c.5106A>T (p.Pro1702=)
n.1928A>T
c.5001A>T (p.Pro1667=)
c.5064A>T (p.Pro1688=)
c.5004A>T (p.Pro1668=)
c.5202A>T (p.Pro1734=)
c.5199A>T (p.Pro1733=)
n.5360A>T
2g.71664425C>ACA347220638DYSFc.2575C>A (p.Gln859Lys)
c.1792C>A (p.Gln598Lys)
c.1900C>A (p.Gln634Lys)
c.5044C>A (p.Gln1682Lys)
c.5161C>A (p.Gln1721Lys)
c.5047C>A (p.Gln1683Lys)
c.5110C>A (p.Gln1704Lys)
c.5158C>A (p.Gln1720Lys)
c.5140C>A (p.Gln1714Lys)
c.5068C>A (p.Gln1690Lys)
c.5095C>A (p.Gln1699Lys)
c.5098C>A (p.Gln1700Lys)
c.5137C>A (p.Gln1713Lys)
c.5107C>A (p.Gln1703Lys)
n.1929C>A
c.5002C>A (p.Gln1668Lys)
c.5065C>A (p.Gln1689Lys)
c.5005C>A (p.Gln1669Lys)
c.5203C>A (p.Gln1735Lys)
c.5200C>A (p.Gln1734Lys)
n.5361C>A
2g.71664425C=CA1260149800DYSFc.2575C= (p.Gln859=)
c.1792C= (p.Gln598=)
c.1900C= (p.Gln634=)
c.5044C= (p.Gln1682=)
c.5161C= (p.Gln1721=)
c.5047C= (p.Gln1683=)
c.5110C= (p.Gln1704=)
c.5158C= (p.Gln1720=)
c.5140C= (p.Gln1714=)
c.5068C= (p.Gln1690=)
c.5095C= (p.Gln1699=)
c.5098C= (p.Gln1700=)
c.5137C= (p.Gln1713=)
c.5107C= (p.Gln1703=)
n.1929C=
c.5002C= (p.Gln1668=)
c.5065C= (p.Gln1689=)
c.5005C= (p.Gln1669=)
c.5203C= (p.Gln1735=)
c.5200C= (p.Gln1734=)
n.5361C=
2g.71664425C>GCA347220636DYSFc.2575C>G (p.Gln859Glu)
c.1792C>G (p.Gln598Glu)
c.1900C>G (p.Gln634Glu)
c.5044C>G (p.Gln1682Glu)
c.5161C>G (p.Gln1721Glu)
c.5047C>G (p.Gln1683Glu)
c.5110C>G (p.Gln1704Glu)
c.5158C>G (p.Gln1720Glu)
c.5140C>G (p.Gln1714Glu)
c.5068C>G (p.Gln1690Glu)
c.5095C>G (p.Gln1699Glu)
c.5098C>G (p.Gln1700Glu)
c.5137C>G (p.Gln1713Glu)
c.5107C>G (p.Gln1703Glu)
n.1929C>G
c.5002C>G (p.Gln1668Glu)
c.5065C>G (p.Gln1689Glu)
c.5005C>G (p.Gln1669Glu)
c.5203C>G (p.Gln1735Glu)
c.5200C>G (p.Gln1734Glu)
n.5361C>G
2g.71664425C>TCA1707263DYSFc.2575C>T (p.Gln859Ter)
c.1792C>T (p.Gln598Ter)
c.1900C>T (p.Gln634Ter)
c.5044C>T (p.Gln1682Ter)
c.5161C>T (p.Gln1721Ter)
c.5047C>T (p.Gln1683Ter)
c.5110C>T (p.Gln1704Ter)
c.5158C>T (p.Gln1720Ter)
c.5140C>T (p.Gln1714Ter)
c.5068C>T (p.Gln1690Ter)
c.5095C>T (p.Gln1699Ter)
c.5098C>T (p.Gln1700Ter)
c.5137C>T (p.Gln1713Ter)
c.5107C>T (p.Gln1703Ter)
n.1929C>T
c.5002C>T (p.Gln1668Ter)
c.5065C>T (p.Gln1689Ter)
c.5005C>T (p.Gln1669Ter)
c.5203C>T (p.Gln1735Ter)
c.5200C>T (p.Gln1734Ter)
n.5361C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664426A>CCA347220640DYSFc.2576A>C (p.Gln859Pro)
c.1793A>C (p.Gln598Pro)
c.1901A>C (p.Gln634Pro)
c.5045A>C (p.Gln1682Pro)
c.5162A>C (p.Gln1721Pro)
c.5048A>C (p.Gln1683Pro)
c.5111A>C (p.Gln1704Pro)
c.5159A>C (p.Gln1720Pro)
c.5141A>C (p.Gln1714Pro)
c.5069A>C (p.Gln1690Pro)
c.5096A>C (p.Gln1699Pro)
c.5099A>C (p.Gln1700Pro)
c.5138A>C (p.Gln1713Pro)
c.5108A>C (p.Gln1703Pro)
n.1930A>C
c.5003A>C (p.Gln1668Pro)
c.5066A>C (p.Gln1689Pro)
c.5006A>C (p.Gln1669Pro)
c.5204A>C (p.Gln1735Pro)
c.5201A>C (p.Gln1734Pro)
n.5362A>C
2g.71664426A>GCA347220642DYSFc.2576A>G (p.Gln859Arg)
c.1793A>G (p.Gln598Arg)
c.1901A>G (p.Gln634Arg)
c.5045A>G (p.Gln1682Arg)
c.5162A>G (p.Gln1721Arg)
c.5048A>G (p.Gln1683Arg)
c.5111A>G (p.Gln1704Arg)
c.5159A>G (p.Gln1720Arg)
c.5141A>G (p.Gln1714Arg)
c.5069A>G (p.Gln1690Arg)
c.5096A>G (p.Gln1699Arg)
c.5099A>G (p.Gln1700Arg)
c.5138A>G (p.Gln1713Arg)
c.5108A>G (p.Gln1703Arg)
n.1930A>G
c.5003A>G (p.Gln1668Arg)
c.5066A>G (p.Gln1689Arg)
c.5006A>G (p.Gln1669Arg)
c.5204A>G (p.Gln1735Arg)
c.5201A>G (p.Gln1734Arg)
n.5362A>G
2g.71664426A>TCA347220643DYSFc.2576A>T (p.Gln859Leu)
c.1793A>T (p.Gln598Leu)
c.1901A>T (p.Gln634Leu)
c.5045A>T (p.Gln1682Leu)
c.5162A>T (p.Gln1721Leu)
c.5048A>T (p.Gln1683Leu)
c.5111A>T (p.Gln1704Leu)
c.5159A>T (p.Gln1720Leu)
c.5141A>T (p.Gln1714Leu)
c.5069A>T (p.Gln1690Leu)
c.5096A>T (p.Gln1699Leu)
c.5099A>T (p.Gln1700Leu)
c.5138A>T (p.Gln1713Leu)
c.5108A>T (p.Gln1703Leu)
n.1930A>T
c.5003A>T (p.Gln1668Leu)
c.5066A>T (p.Gln1689Leu)
c.5006A>T (p.Gln1669Leu)
c.5204A>T (p.Gln1735Leu)
c.5201A>T (p.Gln1734Leu)
n.5362A>T
2g.71664427G>ACA426703996DYSFc.2577G>A (p.Gln859=)
c.1794G>A (p.Gln598=)
c.1902G>A (p.Gln634=)
c.5046G>A (p.Gln1682=)
c.5163G>A (p.Gln1721=)
c.5049G>A (p.Gln1683=)
c.5112G>A (p.Gln1704=)
c.5160G>A (p.Gln1720=)
c.5142G>A (p.Gln1714=)
c.5070G>A (p.Gln1690=)
c.5097G>A (p.Gln1699=)
c.5100G>A (p.Gln1700=)
c.5139G>A (p.Gln1713=)
c.5109G>A (p.Gln1703=)
n.1931G>A
c.5004G>A (p.Gln1668=)
c.5067G>A (p.Gln1689=)
c.5007G>A (p.Gln1669=)
c.5205G>A (p.Gln1735=)
c.5202G>A (p.Gln1734=)
n.5363G>A
2g.71664427G>CCA347220645DYSFc.2577G>C (p.Gln859His)
c.1794G>C (p.Gln598His)
c.1902G>C (p.Gln634His)
c.5046G>C (p.Gln1682His)
c.5163G>C (p.Gln1721His)
c.5049G>C (p.Gln1683His)
c.5112G>C (p.Gln1704His)
c.5160G>C (p.Gln1720His)
c.5142G>C (p.Gln1714His)
c.5070G>C (p.Gln1690His)
c.5097G>C (p.Gln1699His)
c.5100G>C (p.Gln1700His)
c.5139G>C (p.Gln1713His)
c.5109G>C (p.Gln1703His)
n.1931G>C
c.5004G>C (p.Gln1668His)
c.5067G>C (p.Gln1689His)
c.5007G>C (p.Gln1669His)
c.5205G>C (p.Gln1735His)
c.5202G>C (p.Gln1734His)
n.5363G>C
2g.71664427G=CA1260149801DYSFc.2577G= (p.Gln859=)
c.1794G= (p.Gln598=)
c.1902G= (p.Gln634=)
c.5046G= (p.Gln1682=)
c.5163G= (p.Gln1721=)
c.5049G= (p.Gln1683=)
c.5112G= (p.Gln1704=)
c.5160G= (p.Gln1720=)
c.5142G= (p.Gln1714=)
c.5070G= (p.Gln1690=)
c.5097G= (p.Gln1699=)
c.5100G= (p.Gln1700=)
c.5139G= (p.Gln1713=)
c.5109G= (p.Gln1703=)
n.1931G=
c.5004G= (p.Gln1668=)
c.5067G= (p.Gln1689=)
c.5007G= (p.Gln1669=)
c.5205G= (p.Gln1735=)
c.5202G= (p.Gln1734=)
n.5363G=
2g.71664427G>TCA347220647DYSFc.2577G>T (p.Gln859His)
c.1794G>T (p.Gln598His)
c.1902G>T (p.Gln634His)
c.5046G>T (p.Gln1682His)
c.5163G>T (p.Gln1721His)
c.5049G>T (p.Gln1683His)
c.5112G>T (p.Gln1704His)
c.5160G>T (p.Gln1720His)
c.5142G>T (p.Gln1714His)
c.5070G>T (p.Gln1690His)
c.5097G>T (p.Gln1699His)
c.5100G>T (p.Gln1700His)
c.5139G>T (p.Gln1713His)
c.5109G>T (p.Gln1703His)
n.1931G>T
c.5004G>T (p.Gln1668His)
c.5067G>T (p.Gln1689His)
c.5007G>T (p.Gln1669His)
c.5205G>T (p.Gln1735His)
c.5202G>T (p.Gln1734His)
n.5363G>T
 dbSNP
2g.71664428A>CCA347220651DYSFc.2578A>C (p.Thr860Pro)
c.1795A>C (p.Thr599Pro)
c.1903A>C (p.Thr635Pro)
c.5047A>C (p.Thr1683Pro)
c.5164A>C (p.Thr1722Pro)
c.5050A>C (p.Thr1684Pro)
c.5113A>C (p.Thr1705Pro)
c.5161A>C (p.Thr1721Pro)
c.5143A>C (p.Thr1715Pro)
c.5071A>C (p.Thr1691Pro)
c.5098A>C (p.Thr1700Pro)
c.5101A>C (p.Thr1701Pro)
c.5140A>C (p.Thr1714Pro)
c.5110A>C (p.Thr1704Pro)
n.1932A>C
c.5005A>C (p.Thr1669Pro)
c.5068A>C (p.Thr1690Pro)
c.5008A>C (p.Thr1670Pro)
c.5206A>C (p.Thr1736Pro)
c.5203A>C (p.Thr1735Pro)
n.5364A>C
2g.71664428A>GCA347220653DYSFc.2578A>G (p.Thr860Ala)
c.1795A>G (p.Thr599Ala)
c.1903A>G (p.Thr635Ala)
c.5047A>G (p.Thr1683Ala)
c.5164A>G (p.Thr1722Ala)
c.5050A>G (p.Thr1684Ala)
c.5113A>G (p.Thr1705Ala)
c.5161A>G (p.Thr1721Ala)
c.5143A>G (p.Thr1715Ala)
c.5071A>G (p.Thr1691Ala)
c.5098A>G (p.Thr1700Ala)
c.5101A>G (p.Thr1701Ala)
c.5140A>G (p.Thr1714Ala)
c.5110A>G (p.Thr1704Ala)
n.1932A>G
c.5005A>G (p.Thr1669Ala)
c.5068A>G (p.Thr1690Ala)
c.5008A>G (p.Thr1670Ala)
c.5206A>G (p.Thr1736Ala)
c.5203A>G (p.Thr1735Ala)
n.5364A>G
2g.71664428A>TCA347220654DYSFc.2578A>T (p.Thr860Ser)
c.1795A>T (p.Thr599Ser)
c.1903A>T (p.Thr635Ser)
c.5047A>T (p.Thr1683Ser)
c.5164A>T (p.Thr1722Ser)
c.5050A>T (p.Thr1684Ser)
c.5113A>T (p.Thr1705Ser)
c.5161A>T (p.Thr1721Ser)
c.5143A>T (p.Thr1715Ser)
c.5071A>T (p.Thr1691Ser)
c.5098A>T (p.Thr1700Ser)
c.5101A>T (p.Thr1701Ser)
c.5140A>T (p.Thr1714Ser)
c.5110A>T (p.Thr1704Ser)
n.1932A>T
c.5005A>T (p.Thr1669Ser)
c.5068A>T (p.Thr1690Ser)
c.5008A>T (p.Thr1670Ser)
c.5206A>T (p.Thr1736Ser)
c.5203A>T (p.Thr1735Ser)
n.5364A>T
2g.71664429C>ACA347220656DYSFc.2579C>A (p.Thr860Asn)
c.1796C>A (p.Thr599Asn)
c.1904C>A (p.Thr635Asn)
c.5048C>A (p.Thr1683Asn)
c.5165C>A (p.Thr1722Asn)
c.5051C>A (p.Thr1684Asn)
c.5114C>A (p.Thr1705Asn)
c.5162C>A (p.Thr1721Asn)
c.5144C>A (p.Thr1715Asn)
c.5072C>A (p.Thr1691Asn)
c.5099C>A (p.Thr1700Asn)
c.5102C>A (p.Thr1701Asn)
c.5141C>A (p.Thr1714Asn)
c.5111C>A (p.Thr1704Asn)
n.1933C>A
c.5006C>A (p.Thr1669Asn)
c.5069C>A (p.Thr1690Asn)
c.5009C>A (p.Thr1670Asn)
c.5207C>A (p.Thr1736Asn)
c.5204C>A (p.Thr1735Asn)
n.5365C>A
2g.71664429C=CA1260149802DYSFc.2579C= (p.Thr860=)
c.1796C= (p.Thr599=)
c.1904C= (p.Thr635=)
c.5048C= (p.Thr1683=)
c.5165C= (p.Thr1722=)
c.5051C= (p.Thr1684=)
c.5114C= (p.Thr1705=)
c.5162C= (p.Thr1721=)
c.5144C= (p.Thr1715=)
c.5072C= (p.Thr1691=)
c.5099C= (p.Thr1700=)
c.5102C= (p.Thr1701=)
c.5141C= (p.Thr1714=)
c.5111C= (p.Thr1704=)
n.1933C=
c.5006C= (p.Thr1669=)
c.5069C= (p.Thr1690=)
c.5009C= (p.Thr1670=)
c.5207C= (p.Thr1736=)
c.5204C= (p.Thr1735=)
n.5365C=
2g.71664429C>GCA347220658DYSFc.2579C>G (p.Thr860Ser)
c.1796C>G (p.Thr599Ser)
c.1904C>G (p.Thr635Ser)
c.5048C>G (p.Thr1683Ser)
c.5165C>G (p.Thr1722Ser)
c.5051C>G (p.Thr1684Ser)
c.5114C>G (p.Thr1705Ser)
c.5162C>G (p.Thr1721Ser)
c.5144C>G (p.Thr1715Ser)
c.5072C>G (p.Thr1691Ser)
c.5099C>G (p.Thr1700Ser)
c.5102C>G (p.Thr1701Ser)
c.5141C>G (p.Thr1714Ser)
c.5111C>G (p.Thr1704Ser)
n.1933C>G
c.5006C>G (p.Thr1669Ser)
c.5069C>G (p.Thr1690Ser)
c.5009C>G (p.Thr1670Ser)
c.5207C>G (p.Thr1736Ser)
c.5204C>G (p.Thr1735Ser)
n.5365C>G
 dbSNP gnomAD v2 gnomAD v4
2g.71664429C>TCA347220660DYSFc.2579C>T (p.Thr860Ile)
c.1796C>T (p.Thr599Ile)
c.1904C>T (p.Thr635Ile)
c.5048C>T (p.Thr1683Ile)
c.5165C>T (p.Thr1722Ile)
c.5051C>T (p.Thr1684Ile)
c.5114C>T (p.Thr1705Ile)
c.5162C>T (p.Thr1721Ile)
c.5144C>T (p.Thr1715Ile)
c.5072C>T (p.Thr1691Ile)
c.5099C>T (p.Thr1700Ile)
c.5102C>T (p.Thr1701Ile)
c.5141C>T (p.Thr1714Ile)
c.5111C>T (p.Thr1704Ile)
n.1933C>T
c.5006C>T (p.Thr1669Ile)
c.5069C>T (p.Thr1690Ile)
c.5009C>T (p.Thr1670Ile)
c.5207C>T (p.Thr1736Ile)
c.5204C>T (p.Thr1735Ile)
n.5365C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71664430C>ACA426703997DYSFc.2580C>A (p.Thr860=)
c.1797C>A (p.Thr599=)
c.1905C>A (p.Thr635=)
c.5049C>A (p.Thr1683=)
c.5166C>A (p.Thr1722=)
c.5052C>A (p.Thr1684=)
c.5115C>A (p.Thr1705=)
c.5163C>A (p.Thr1721=)
c.5145C>A (p.Thr1715=)
c.5073C>A (p.Thr1691=)
c.5100C>A (p.Thr1700=)
c.5103C>A (p.Thr1701=)
c.5142C>A (p.Thr1714=)
c.5112C>A (p.Thr1704=)
n.1934C>A
c.5007C>A (p.Thr1669=)
c.5070C>A (p.Thr1690=)
c.5010C>A (p.Thr1670=)
c.5208C>A (p.Thr1736=)
c.5205C>A (p.Thr1735=)
n.5366C>A
2g.71664430C=CA1260149803DYSFc.2580C= (p.Thr860=)
c.1797C= (p.Thr599=)
c.1905C= (p.Thr635=)
c.5049C= (p.Thr1683=)
c.5166C= (p.Thr1722=)
c.5052C= (p.Thr1684=)
c.5115C= (p.Thr1705=)
c.5163C= (p.Thr1721=)
c.5145C= (p.Thr1715=)
c.5073C= (p.Thr1691=)
c.5100C= (p.Thr1700=)
c.5103C= (p.Thr1701=)
c.5142C= (p.Thr1714=)
c.5112C= (p.Thr1704=)
n.1934C=
c.5007C= (p.Thr1669=)
c.5070C= (p.Thr1690=)
c.5010C= (p.Thr1670=)
c.5208C= (p.Thr1736=)
c.5205C= (p.Thr1735=)
n.5366C=
2g.71664430C>GCA426703998DYSFc.2580C>G (p.Thr860=)
c.1797C>G (p.Thr599=)
c.1905C>G (p.Thr635=)
c.5049C>G (p.Thr1683=)
c.5166C>G (p.Thr1722=)
c.5052C>G (p.Thr1684=)
c.5115C>G (p.Thr1705=)
c.5163C>G (p.Thr1721=)
c.5145C>G (p.Thr1715=)
c.5073C>G (p.Thr1691=)
c.5100C>G (p.Thr1700=)
c.5103C>G (p.Thr1701=)
c.5142C>G (p.Thr1714=)
c.5112C>G (p.Thr1704=)
n.1934C>G
c.5007C>G (p.Thr1669=)
c.5070C>G (p.Thr1690=)
c.5010C>G (p.Thr1670=)
c.5208C>G (p.Thr1736=)
c.5205C>G (p.Thr1735=)
n.5366C>G
2g.71664430C>TCA426703999DYSFc.2580C>T (p.Thr860=)
c.1797C>T (p.Thr599=)
c.1905C>T (p.Thr635=)
c.5049C>T (p.Thr1683=)
c.5166C>T (p.Thr1722=)
c.5052C>T (p.Thr1684=)
c.5115C>T (p.Thr1705=)
c.5163C>T (p.Thr1721=)
c.5145C>T (p.Thr1715=)
c.5073C>T (p.Thr1691=)
c.5100C>T (p.Thr1700=)
c.5103C>T (p.Thr1701=)
c.5142C>T (p.Thr1714=)
c.5112C>T (p.Thr1704=)
n.1934C>T
c.5007C>T (p.Thr1669=)
c.5070C>T (p.Thr1690=)
c.5010C>T (p.Thr1670=)
c.5208C>T (p.Thr1736=)
c.5205C>T (p.Thr1735=)
n.5366C>T
 dbSNP gnomAD v3 gnomAD v4
2g.71664431T>ACA347220662DYSFc.2581T>A (p.Tyr861Asn)
c.1798T>A (p.Tyr600Asn)
c.1906T>A (p.Tyr636Asn)
c.5050T>A (p.Tyr1684Asn)
c.5167T>A (p.Tyr1723Asn)
c.5053T>A (p.Tyr1685Asn)
c.5116T>A (p.Tyr1706Asn)
c.5164T>A (p.Tyr1722Asn)
c.5146T>A (p.Tyr1716Asn)
c.5074T>A (p.Tyr1692Asn)
c.5101T>A (p.Tyr1701Asn)
c.5104T>A (p.Tyr1702Asn)
c.5143T>A (p.Tyr1715Asn)
c.5113T>A (p.Tyr1705Asn)
n.1935T>A
c.5008T>A (p.Tyr1670Asn)
c.5071T>A (p.Tyr1691Asn)
c.5011T>A (p.Tyr1671Asn)
c.5209T>A (p.Tyr1737Asn)
c.5206T>A (p.Tyr1736Asn)
n.5367T>A
2g.71664431T>CCA347220665DYSFc.2581T>C (p.Tyr861His)
c.1798T>C (p.Tyr600His)
c.1906T>C (p.Tyr636His)
c.5050T>C (p.Tyr1684His)
c.5167T>C (p.Tyr1723His)
c.5053T>C (p.Tyr1685His)
c.5116T>C (p.Tyr1706His)
c.5164T>C (p.Tyr1722His)
c.5146T>C (p.Tyr1716His)
c.5074T>C (p.Tyr1692His)
c.5101T>C (p.Tyr1701His)
c.5104T>C (p.Tyr1702His)
c.5143T>C (p.Tyr1715His)
c.5113T>C (p.Tyr1705His)
n.1935T>C
c.5008T>C (p.Tyr1670His)
c.5071T>C (p.Tyr1691His)
c.5011T>C (p.Tyr1671His)
c.5209T>C (p.Tyr1737His)
c.5206T>C (p.Tyr1736His)
n.5367T>C
2g.71664431T>GCA347220664DYSFc.2581T>G (p.Tyr861Asp)
c.1798T>G (p.Tyr600Asp)
c.1906T>G (p.Tyr636Asp)
c.5050T>G (p.Tyr1684Asp)
c.5167T>G (p.Tyr1723Asp)
c.5053T>G (p.Tyr1685Asp)
c.5116T>G (p.Tyr1706Asp)
c.5164T>G (p.Tyr1722Asp)
c.5146T>G (p.Tyr1716Asp)
c.5074T>G (p.Tyr1692Asp)
c.5101T>G (p.Tyr1701Asp)
c.5104T>G (p.Tyr1702Asp)
c.5143T>G (p.Tyr1715Asp)
c.5113T>G (p.Tyr1705Asp)
n.1935T>G
c.5008T>G (p.Tyr1670Asp)
c.5071T>G (p.Tyr1691Asp)
c.5011T>G (p.Tyr1671Asp)
c.5209T>G (p.Tyr1737Asp)
c.5206T>G (p.Tyr1736Asp)
n.5367T>G
2g.71664431_71664432delCA2580067922DYSFc.2581_2582del (p.Tyr861LeufsTer26)
c.1798_1799del (p.Tyr600LeufsTer26)
c.1906_1907del (p.Tyr636LeufsTer26)
c.5050_5051del (p.Tyr1684LeufsTer26)
c.5167_5168del (p.Tyr1723LeufsTer26)
c.5053_5054del (p.Tyr1685LeufsTer26)
c.5116_5117del (p.Tyr1706LeufsTer26)
c.5164_5165del (p.Tyr1722LeufsTer26)
c.5146_5147del (p.Tyr1716LeufsTer26)
c.5074_5075del (p.Tyr1692LeufsTer26)
c.5101_5102del (p.Tyr1701LeufsTer26)
c.5104_5105del (p.Tyr1702LeufsTer26)
c.5143_5144del (p.Tyr1715LeufsTer26)
c.5113_5114del (p.Tyr1705LeufsTer26)
n.1935_1936del
c.5008_5009del (p.Tyr1670LeufsTer26)
c.5071_5072del (p.Tyr1691LeufsTer26)
c.5011_5012del (p.Tyr1671LeufsTer26)
c.5209_5210del (p.Tyr1737LeufsTer26)
c.5206_5207del (p.Tyr1736LeufsTer26)
n.5367_5368del
 ClinVar
2g.71664432A>CCA347220667DYSFc.2582A>C (p.Tyr861Ser)
c.1799A>C (p.Tyr600Ser)
c.1907A>C (p.Tyr636Ser)
c.5051A>C (p.Tyr1684Ser)
c.5168A>C (p.Tyr1723Ser)
c.5054A>C (p.Tyr1685Ser)
c.5117A>C (p.Tyr1706Ser)
c.5165A>C (p.Tyr1722Ser)
c.5147A>C (p.Tyr1716Ser)
c.5075A>C (p.Tyr1692Ser)
c.5102A>C (p.Tyr1701Ser)
c.5105A>C (p.Tyr1702Ser)
c.5144A>C (p.Tyr1715Ser)
c.5114A>C (p.Tyr1705Ser)
n.1936A>C
c.5009A>C (p.Tyr1670Ser)
c.5072A>C (p.Tyr1691Ser)
c.5012A>C (p.Tyr1671Ser)
c.5210A>C (p.Tyr1737Ser)
c.5207A>C (p.Tyr1736Ser)
n.5368A>C
2g.71664432A>GCA347220670DYSFc.2582A>G (p.Tyr861Cys)
c.1799A>G (p.Tyr600Cys)
c.1907A>G (p.Tyr636Cys)
c.5051A>G (p.Tyr1684Cys)
c.5168A>G (p.Tyr1723Cys)
c.5054A>G (p.Tyr1685Cys)
c.5117A>G (p.Tyr1706Cys)
c.5165A>G (p.Tyr1722Cys)
c.5147A>G (p.Tyr1716Cys)
c.5075A>G (p.Tyr1692Cys)
c.5102A>G (p.Tyr1701Cys)
c.5105A>G (p.Tyr1702Cys)
c.5144A>G (p.Tyr1715Cys)
c.5114A>G (p.Tyr1705Cys)
n.1936A>G
c.5009A>G (p.Tyr1670Cys)
c.5072A>G (p.Tyr1691Cys)
c.5012A>G (p.Tyr1671Cys)
c.5210A>G (p.Tyr1737Cys)
c.5207A>G (p.Tyr1736Cys)
n.5368A>G
2g.71664432A>TCA347220668DYSFc.2582A>T (p.Tyr861Phe)
c.1799A>T (p.Tyr600Phe)
c.1907A>T (p.Tyr636Phe)
c.5051A>T (p.Tyr1684Phe)
c.5168A>T (p.Tyr1723Phe)
c.5054A>T (p.Tyr1685Phe)
c.5117A>T (p.Tyr1706Phe)
c.5165A>T (p.Tyr1722Phe)
c.5147A>T (p.Tyr1716Phe)
c.5075A>T (p.Tyr1692Phe)
c.5102A>T (p.Tyr1701Phe)
c.5105A>T (p.Tyr1702Phe)
c.5144A>T (p.Tyr1715Phe)
c.5114A>T (p.Tyr1705Phe)
n.1936A>T
c.5009A>T (p.Tyr1670Phe)
c.5072A>T (p.Tyr1691Phe)
c.5012A>T (p.Tyr1671Phe)
c.5210A>T (p.Tyr1737Phe)
c.5207A>T (p.Tyr1736Phe)
n.5368A>T
2g.71664433C>ACA347220671DYSFc.2583C>A (p.Tyr861Ter)
c.1800C>A (p.Tyr600Ter)
c.1908C>A (p.Tyr636Ter)
c.5052C>A (p.Tyr1684Ter)
c.5169C>A (p.Tyr1723Ter)
c.5055C>A (p.Tyr1685Ter)
c.5118C>A (p.Tyr1706Ter)
c.5166C>A (p.Tyr1722Ter)
c.5148C>A (p.Tyr1716Ter)
c.5076C>A (p.Tyr1692Ter)
c.5103C>A (p.Tyr1701Ter)
c.5106C>A (p.Tyr1702Ter)
c.5145C>A (p.Tyr1715Ter)
c.5115C>A (p.Tyr1705Ter)
n.1937C>A
c.5010C>A (p.Tyr1670Ter)
c.5073C>A (p.Tyr1691Ter)
c.5013C>A (p.Tyr1671Ter)
c.5211C>A (p.Tyr1737Ter)
c.5208C>A (p.Tyr1736Ter)
n.5369C>A
 ClinVar
2g.71664433C>GCA347220673DYSFc.2583C>G (p.Tyr861Ter)
c.1800C>G (p.Tyr600Ter)
c.1908C>G (p.Tyr636Ter)
c.5052C>G (p.Tyr1684Ter)
c.5169C>G (p.Tyr1723Ter)
c.5055C>G (p.Tyr1685Ter)
c.5118C>G (p.Tyr1706Ter)
c.5166C>G (p.Tyr1722Ter)
c.5148C>G (p.Tyr1716Ter)
c.5076C>G (p.Tyr1692Ter)
c.5103C>G (p.Tyr1701Ter)
c.5106C>G (p.Tyr1702Ter)
c.5145C>G (p.Tyr1715Ter)
c.5115C>G (p.Tyr1705Ter)
n.1937C>G
c.5010C>G (p.Tyr1670Ter)
c.5073C>G (p.Tyr1691Ter)
c.5013C>G (p.Tyr1671Ter)
c.5211C>G (p.Tyr1737Ter)
c.5208C>G (p.Tyr1736Ter)
n.5369C>G
2g.71664433C>TCA426704000DYSFc.2583C>T (p.Tyr861=)
c.1800C>T (p.Tyr600=)
c.1908C>T (p.Tyr636=)
c.5052C>T (p.Tyr1684=)
c.5169C>T (p.Tyr1723=)
c.5055C>T (p.Tyr1685=)
c.5118C>T (p.Tyr1706=)
c.5166C>T (p.Tyr1722=)
c.5148C>T (p.Tyr1716=)
c.5076C>T (p.Tyr1692=)
c.5103C>T (p.Tyr1701=)
c.5106C>T (p.Tyr1702=)
c.5145C>T (p.Tyr1715=)
c.5115C>T (p.Tyr1705=)
n.1937C>T
c.5010C>T (p.Tyr1670=)
c.5073C>T (p.Tyr1691=)
c.5013C>T (p.Tyr1671=)
c.5211C>T (p.Tyr1737=)
c.5208C>T (p.Tyr1736=)
n.5369C>T
2g.71664434T>ACA347220676DYSFc.2584T>A (p.Cys862Ser)
c.1801T>A (p.Cys601Ser)
c.1909T>A (p.Cys637Ser)
c.5053T>A (p.Cys1685Ser)
c.5170T>A (p.Cys1724Ser)
c.5056T>A (p.Cys1686Ser)
c.5119T>A (p.Cys1707Ser)
c.5167T>A (p.Cys1723Ser)
c.5149T>A (p.Cys1717Ser)
c.5077T>A (p.Cys1693Ser)
c.5104T>A (p.Cys1702Ser)
c.5107T>A (p.Cys1703Ser)
c.5146T>A (p.Cys1716Ser)
c.5116T>A (p.Cys1706Ser)
n.1938T>A
c.5011T>A (p.Cys1671Ser)
c.5074T>A (p.Cys1692Ser)
c.5014T>A (p.Cys1672Ser)
c.5212T>A (p.Cys1738Ser)
c.5209T>A (p.Cys1737Ser)
n.5370T>A
2g.71664434T>CCA347220677DYSFc.2584T>C (p.Cys862Arg)
c.1801T>C (p.Cys601Arg)
c.1909T>C (p.Cys637Arg)
c.5053T>C (p.Cys1685Arg)
c.5170T>C (p.Cys1724Arg)
c.5056T>C (p.Cys1686Arg)
c.5119T>C (p.Cys1707Arg)
c.5167T>C (p.Cys1723Arg)
c.5149T>C (p.Cys1717Arg)
c.5077T>C (p.Cys1693Arg)
c.5104T>C (p.Cys1702Arg)
c.5107T>C (p.Cys1703Arg)
c.5146T>C (p.Cys1716Arg)
c.5116T>C (p.Cys1706Arg)
n.1938T>C
c.5011T>C (p.Cys1671Arg)
c.5074T>C (p.Cys1692Arg)
c.5014T>C (p.Cys1672Arg)
c.5212T>C (p.Cys1738Arg)
c.5209T>C (p.Cys1737Arg)
n.5370T>C
 gnomAD v4
2g.71664434T>GCA347220679DYSFc.2584T>G (p.Cys862Gly)
c.1801T>G (p.Cys601Gly)
c.1909T>G (p.Cys637Gly)
c.5053T>G (p.Cys1685Gly)
c.5170T>G (p.Cys1724Gly)
c.5056T>G (p.Cys1686Gly)
c.5119T>G (p.Cys1707Gly)
c.5167T>G (p.Cys1723Gly)
c.5149T>G (p.Cys1717Gly)
c.5077T>G (p.Cys1693Gly)
c.5104T>G (p.Cys1702Gly)
c.5107T>G (p.Cys1703Gly)
c.5146T>G (p.Cys1716Gly)
c.5116T>G (p.Cys1706Gly)
n.1938T>G
c.5011T>G (p.Cys1671Gly)
c.5074T>G (p.Cys1692Gly)
c.5014T>G (p.Cys1672Gly)
c.5212T>G (p.Cys1738Gly)
c.5209T>G (p.Cys1737Gly)
n.5370T>G
2g.71664435G>ACA1707265DYSFc.2585G>A (p.Cys862Tyr)
c.1802G>A (p.Cys601Tyr)
c.1910G>A (p.Cys637Tyr)
c.5054G>A (p.Cys1685Tyr)
c.5171G>A (p.Cys1724Tyr)
c.5057G>A (p.Cys1686Tyr)
c.5120G>A (p.Cys1707Tyr)
c.5168G>A (p.Cys1723Tyr)
c.5150G>A (p.Cys1717Tyr)
c.5078G>A (p.Cys1693Tyr)
c.5105G>A (p.Cys1702Tyr)
c.5108G>A (p.Cys1703Tyr)
c.5147G>A (p.Cys1716Tyr)
c.5117G>A (p.Cys1706Tyr)
n.1939G>A
c.5012G>A (p.Cys1671Tyr)
c.5075G>A (p.Cys1692Tyr)
c.5015G>A (p.Cys1672Tyr)
c.5213G>A (p.Cys1738Tyr)
c.5210G>A (p.Cys1737Tyr)
n.5371G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664435G>CCA1707264DYSFc.2585G>C (p.Cys862Ser)
c.1802G>C (p.Cys601Ser)
c.1910G>C (p.Cys637Ser)
c.5054G>C (p.Cys1685Ser)
c.5171G>C (p.Cys1724Ser)
c.5057G>C (p.Cys1686Ser)
c.5120G>C (p.Cys1707Ser)
c.5168G>C (p.Cys1723Ser)
c.5150G>C (p.Cys1717Ser)
c.5078G>C (p.Cys1693Ser)
c.5105G>C (p.Cys1702Ser)
c.5108G>C (p.Cys1703Ser)
c.5147G>C (p.Cys1716Ser)
c.5117G>C (p.Cys1706Ser)
n.1939G>C
c.5012G>C (p.Cys1671Ser)
c.5075G>C (p.Cys1692Ser)
c.5015G>C (p.Cys1672Ser)
c.5213G>C (p.Cys1738Ser)
c.5210G>C (p.Cys1737Ser)
n.5371G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664435G=CA1260149804DYSFc.2585G= (p.Cys862=)
c.1802G= (p.Cys601=)
c.1910G= (p.Cys637=)
c.5054G= (p.Cys1685=)
c.5171G= (p.Cys1724=)
c.5057G= (p.Cys1686=)
c.5120G= (p.Cys1707=)
c.5168G= (p.Cys1723=)
c.5150G= (p.Cys1717=)
c.5078G= (p.Cys1693=)
c.5105G= (p.Cys1702=)
c.5108G= (p.Cys1703=)
c.5147G= (p.Cys1716=)
c.5117G= (p.Cys1706=)
n.1939G=
c.5012G= (p.Cys1671=)
c.5075G= (p.Cys1692=)
c.5015G= (p.Cys1672=)
c.5213G= (p.Cys1738=)
c.5210G= (p.Cys1737=)
n.5371G=
2g.71664435G>TCA347220687DYSFc.2585G>T (p.Cys862Phe)
c.1802G>T (p.Cys601Phe)
c.1910G>T (p.Cys637Phe)
c.5054G>T (p.Cys1685Phe)
c.5171G>T (p.Cys1724Phe)
c.5057G>T (p.Cys1686Phe)
c.5120G>T (p.Cys1707Phe)
c.5168G>T (p.Cys1723Phe)
c.5150G>T (p.Cys1717Phe)
c.5078G>T (p.Cys1693Phe)
c.5105G>T (p.Cys1702Phe)
c.5108G>T (p.Cys1703Phe)
c.5147G>T (p.Cys1716Phe)
c.5117G>T (p.Cys1706Phe)
n.1939G>T
c.5012G>T (p.Cys1671Phe)
c.5075G>T (p.Cys1692Phe)
c.5015G>T (p.Cys1672Phe)
c.5213G>T (p.Cys1738Phe)
c.5210G>T (p.Cys1737Phe)
n.5371G>T
2g.71664436T>ACA347220689DYSFc.2586T>A (p.Cys862Ter)
c.1803T>A (p.Cys601Ter)
c.1911T>A (p.Cys637Ter)
c.5055T>A (p.Cys1685Ter)
c.5172T>A (p.Cys1724Ter)
c.5058T>A (p.Cys1686Ter)
c.5121T>A (p.Cys1707Ter)
c.5169T>A (p.Cys1723Ter)
c.5151T>A (p.Cys1717Ter)
c.5079T>A (p.Cys1693Ter)
c.5106T>A (p.Cys1702Ter)
c.5109T>A (p.Cys1703Ter)
c.5148T>A (p.Cys1716Ter)
c.5118T>A (p.Cys1706Ter)
n.1940T>A
c.5013T>A (p.Cys1671Ter)
c.5076T>A (p.Cys1692Ter)
c.5016T>A (p.Cys1672Ter)
c.5214T>A (p.Cys1738Ter)
c.5211T>A (p.Cys1737Ter)
n.5372T>A
2g.71664436T>CCA426704001DYSFc.2586T>C (p.Cys862=)
c.1803T>C (p.Cys601=)
c.1911T>C (p.Cys637=)
c.5055T>C (p.Cys1685=)
c.5172T>C (p.Cys1724=)
c.5058T>C (p.Cys1686=)
c.5121T>C (p.Cys1707=)
c.5169T>C (p.Cys1723=)
c.5151T>C (p.Cys1717=)
c.5079T>C (p.Cys1693=)
c.5106T>C (p.Cys1702=)
c.5109T>C (p.Cys1703=)
c.5148T>C (p.Cys1716=)
c.5118T>C (p.Cys1706=)
n.1940T>C
c.5013T>C (p.Cys1671=)
c.5076T>C (p.Cys1692=)
c.5016T>C (p.Cys1672=)
c.5214T>C (p.Cys1738=)
c.5211T>C (p.Cys1737=)
n.5372T>C
 gnomAD v4
2g.71664436T>GCA347220690DYSFc.2586T>G (p.Cys862Trp)
c.1803T>G (p.Cys601Trp)
c.1911T>G (p.Cys637Trp)
c.5055T>G (p.Cys1685Trp)
c.5172T>G (p.Cys1724Trp)
c.5058T>G (p.Cys1686Trp)
c.5121T>G (p.Cys1707Trp)
c.5169T>G (p.Cys1723Trp)
c.5151T>G (p.Cys1717Trp)
c.5079T>G (p.Cys1693Trp)
c.5106T>G (p.Cys1702Trp)
c.5109T>G (p.Cys1703Trp)
c.5148T>G (p.Cys1716Trp)
c.5118T>G (p.Cys1706Trp)
n.1940T>G
c.5013T>G (p.Cys1671Trp)
c.5076T>G (p.Cys1692Trp)
c.5016T>G (p.Cys1672Trp)
c.5214T>G (p.Cys1738Trp)
c.5211T>G (p.Cys1737Trp)
n.5372T>G
 gnomAD v4
2g.71664437G>ACA347220691DYSFc.2587G>A (p.Val863Ile)
c.1804G>A (p.Val602Ile)
c.1912G>A (p.Val638Ile)
c.5056G>A (p.Val1686Ile)
c.5173G>A (p.Val1725Ile)
c.5059G>A (p.Val1687Ile)
c.5122G>A (p.Val1708Ile)
c.5170G>A (p.Val1724Ile)
c.5152G>A (p.Val1718Ile)
c.5080G>A (p.Val1694Ile)
c.5107G>A (p.Val1703Ile)
c.5110G>A (p.Val1704Ile)
c.5149G>A (p.Val1717Ile)
c.5119G>A (p.Val1707Ile)
n.1941G>A
c.5014G>A (p.Val1672Ile)
c.5077G>A (p.Val1693Ile)
c.5017G>A (p.Val1673Ile)
c.5215G>A (p.Val1739Ile)
c.5212G>A (p.Val1738Ile)
n.5373G>A
 dbSNP gnomAD v3 gnomAD v4
2g.71664437G>CCA347220692DYSFc.2587G>C (p.Val863Leu)
c.1804G>C (p.Val602Leu)
c.1912G>C (p.Val638Leu)
c.5056G>C (p.Val1686Leu)
c.5173G>C (p.Val1725Leu)
c.5059G>C (p.Val1687Leu)
c.5122G>C (p.Val1708Leu)
c.5170G>C (p.Val1724Leu)
c.5152G>C (p.Val1718Leu)
c.5080G>C (p.Val1694Leu)
c.5107G>C (p.Val1703Leu)
c.5110G>C (p.Val1704Leu)
c.5149G>C (p.Val1717Leu)
c.5119G>C (p.Val1707Leu)
n.1941G>C
c.5014G>C (p.Val1672Leu)
c.5077G>C (p.Val1693Leu)
c.5017G>C (p.Val1673Leu)
c.5215G>C (p.Val1739Leu)
c.5212G>C (p.Val1738Leu)
n.5373G>C
2g.71664437G=CA1260149805DYSFc.2587G= (p.Val863=)
c.1804G= (p.Val602=)
c.1912G= (p.Val638=)
c.5056G= (p.Val1686=)
c.5173G= (p.Val1725=)
c.5059G= (p.Val1687=)
c.5122G= (p.Val1708=)
c.5170G= (p.Val1724=)
c.5152G= (p.Val1718=)
c.5080G= (p.Val1694=)
c.5107G= (p.Val1703=)
c.5110G= (p.Val1704=)
c.5149G= (p.Val1717=)
c.5119G= (p.Val1707=)
n.1941G=
c.5014G= (p.Val1672=)
c.5077G= (p.Val1693=)
c.5017G= (p.Val1673=)
c.5215G= (p.Val1739=)
c.5212G= (p.Val1738=)
n.5373G=
2g.71664437G>TCA347220695DYSFc.2587G>T (p.Val863Phe)
c.1804G>T (p.Val602Phe)
c.1912G>T (p.Val638Phe)
c.5056G>T (p.Val1686Phe)
c.5173G>T (p.Val1725Phe)
c.5059G>T (p.Val1687Phe)
c.5122G>T (p.Val1708Phe)
c.5170G>T (p.Val1724Phe)
c.5152G>T (p.Val1718Phe)
c.5080G>T (p.Val1694Phe)
c.5107G>T (p.Val1703Phe)
c.5110G>T (p.Val1704Phe)
c.5149G>T (p.Val1717Phe)
c.5119G>T (p.Val1707Phe)
n.1941G>T
c.5014G>T (p.Val1672Phe)
c.5077G>T (p.Val1693Phe)
c.5017G>T (p.Val1673Phe)
c.5215G>T (p.Val1739Phe)
c.5212G>T (p.Val1738Phe)
n.5373G>T
2g.71664438T>ACA347220699DYSFc.2588T>A (p.Val863Asp)
c.1805T>A (p.Val602Asp)
c.1913T>A (p.Val638Asp)
c.5057T>A (p.Val1686Asp)
c.5174T>A (p.Val1725Asp)
c.5060T>A (p.Val1687Asp)
c.5123T>A (p.Val1708Asp)
c.5171T>A (p.Val1724Asp)
c.5153T>A (p.Val1718Asp)
c.5081T>A (p.Val1694Asp)
c.5108T>A (p.Val1703Asp)
c.5111T>A (p.Val1704Asp)
c.5150T>A (p.Val1717Asp)
c.5120T>A (p.Val1707Asp)
n.1942T>A
c.5015T>A (p.Val1672Asp)
c.5078T>A (p.Val1693Asp)
c.5018T>A (p.Val1673Asp)
c.5216T>A (p.Val1739Asp)
c.5213T>A (p.Val1738Asp)
n.5374T>A
2g.71664438T>CCA1707266DYSFc.2588T>C (p.Val863Ala)
c.1805T>C (p.Val602Ala)
c.1913T>C (p.Val638Ala)
c.5057T>C (p.Val1686Ala)
c.5174T>C (p.Val1725Ala)
c.5060T>C (p.Val1687Ala)
c.5123T>C (p.Val1708Ala)
c.5171T>C (p.Val1724Ala)
c.5153T>C (p.Val1718Ala)
c.5081T>C (p.Val1694Ala)
c.5108T>C (p.Val1703Ala)
c.5111T>C (p.Val1704Ala)
c.5150T>C (p.Val1717Ala)
c.5120T>C (p.Val1707Ala)
n.1942T>C
c.5015T>C (p.Val1672Ala)
c.5078T>C (p.Val1693Ala)
c.5018T>C (p.Val1673Ala)
c.5216T>C (p.Val1739Ala)
c.5213T>C (p.Val1738Ala)
n.5374T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664438T>GCA347220700DYSFc.2588T>G (p.Val863Gly)
c.1805T>G (p.Val602Gly)
c.1913T>G (p.Val638Gly)
c.5057T>G (p.Val1686Gly)
c.5174T>G (p.Val1725Gly)
c.5060T>G (p.Val1687Gly)
c.5123T>G (p.Val1708Gly)
c.5171T>G (p.Val1724Gly)
c.5153T>G (p.Val1718Gly)
c.5081T>G (p.Val1694Gly)
c.5108T>G (p.Val1703Gly)
c.5111T>G (p.Val1704Gly)
c.5150T>G (p.Val1717Gly)
c.5120T>G (p.Val1707Gly)
n.1942T>G
c.5015T>G (p.Val1672Gly)
c.5078T>G (p.Val1693Gly)
c.5018T>G (p.Val1673Gly)
c.5216T>G (p.Val1739Gly)
c.5213T>G (p.Val1738Gly)
n.5374T>G
2g.71664438T=CA1260149806DYSFc.2588T= (p.Val863=)
c.1805T= (p.Val602=)
c.1913T= (p.Val638=)
c.5057T= (p.Val1686=)
c.5174T= (p.Val1725=)
c.5060T= (p.Val1687=)
c.5123T= (p.Val1708=)
c.5171T= (p.Val1724=)
c.5153T= (p.Val1718=)
c.5081T= (p.Val1694=)
c.5108T= (p.Val1703=)
c.5111T= (p.Val1704=)
c.5150T= (p.Val1717=)
c.5120T= (p.Val1707=)
n.1942T=
c.5015T= (p.Val1672=)
c.5078T= (p.Val1693=)
c.5018T= (p.Val1673=)
c.5216T= (p.Val1739=)
c.5213T= (p.Val1738=)
n.5374T=
2g.71664439G>ACA10604432DYSFc.2588+1G>A (n.2588+1G>A)
c.1805+1G>A (n.1805+1G>A)
c.1913+1G>A (n.1913+1G>A)
c.5057+1G>A (n.5057+1G>A)
c.5174+1G>A (n.5174+1G>A)
c.5060+1G>A (n.5060+1G>A)
c.5123+1G>A (n.5123+1G>A)
c.5171+1G>A (n.5171+1G>A)
c.5153+1G>A (n.5153+1G>A)
c.5081+1G>A (n.5081+1G>A)
c.5108+1G>A (n.5108+1G>A)
c.5111+1G>A (n.5111+1G>A)
c.5150+1G>A (n.5150+1G>A)
c.5120+1G>A (n.5120+1G>A)
n.1942+1G>A
c.5015+1G>A (n.5015+1G>A)
c.5078+1G>A (n.5078+1G>A)
c.5018+1G>A (n.5018+1G>A)
c.5216+1G>A (n.5216+1G>A)
c.5213+1G>A (n.5213+1G>A)
n.5375G>A
 ClinVar dbSNP gnomAD v4
2g.71664439G>CCA347220705DYSFc.2588+1G>C (n.2588+1G>C)
c.1805+1G>C (n.1805+1G>C)
c.1913+1G>C (n.1913+1G>C)
c.5057+1G>C (n.5057+1G>C)
c.5174+1G>C (n.5174+1G>C)
c.5060+1G>C (n.5060+1G>C)
c.5123+1G>C (n.5123+1G>C)
c.5171+1G>C (n.5171+1G>C)
c.5153+1G>C (n.5153+1G>C)
c.5081+1G>C (n.5081+1G>C)
c.5108+1G>C (n.5108+1G>C)
c.5111+1G>C (n.5111+1G>C)
c.5150+1G>C (n.5150+1G>C)
c.5120+1G>C (n.5120+1G>C)
n.1942+1G>C
c.5015+1G>C (n.5015+1G>C)
c.5078+1G>C (n.5078+1G>C)
c.5018+1G>C (n.5018+1G>C)
c.5216+1G>C (n.5216+1G>C)
c.5213+1G>C (n.5213+1G>C)
n.5375G>C
2g.71664439G=CA1260149807DYSFc.2588+1G= (n.2588+1G=)
c.1805+1G= (n.1805+1G=)
c.1913+1G= (n.1913+1G=)
c.5057+1G= (n.5057+1G=)
c.5174+1G= (n.5174+1G=)
c.5060+1G= (n.5060+1G=)
c.5123+1G= (n.5123+1G=)
c.5171+1G= (n.5171+1G=)
c.5153+1G= (n.5153+1G=)
c.5081+1G= (n.5081+1G=)
c.5108+1G= (n.5108+1G=)
c.5111+1G= (n.5111+1G=)
c.5150+1G= (n.5150+1G=)
c.5120+1G= (n.5120+1G=)
n.1942+1G=
c.5015+1G= (n.5015+1G=)
c.5078+1G= (n.5078+1G=)
c.5018+1G= (n.5018+1G=)
c.5216+1G= (n.5216+1G=)
c.5213+1G= (n.5213+1G=)
n.5375G=
2g.71664439G>TCA347220706DYSFc.2588+1G>T (n.2588+1G>T)
c.1805+1G>T (n.1805+1G>T)
c.1913+1G>T (n.1913+1G>T)
c.5057+1G>T (n.5057+1G>T)
c.5174+1G>T (n.5174+1G>T)
c.5060+1G>T (n.5060+1G>T)
c.5123+1G>T (n.5123+1G>T)
c.5171+1G>T (n.5171+1G>T)
c.5153+1G>T (n.5153+1G>T)
c.5081+1G>T (n.5081+1G>T)
c.5108+1G>T (n.5108+1G>T)
c.5111+1G>T (n.5111+1G>T)
c.5150+1G>T (n.5150+1G>T)
c.5120+1G>T (n.5120+1G>T)
n.1942+1G>T
c.5015+1G>T (n.5015+1G>T)
c.5078+1G>T (n.5078+1G>T)
c.5018+1G>T (n.5018+1G>T)
c.5216+1G>T (n.5216+1G>T)
c.5213+1G>T (n.5213+1G>T)
n.5375G>T
2g.71664440T>ACA347220708DYSFc.2588+2T>A (n.2588+2T>A)
c.1805+2T>A (n.1805+2T>A)
c.1913+2T>A (n.1913+2T>A)
c.5057+2T>A (n.5057+2T>A)
c.5174+2T>A (n.5174+2T>A)
c.5060+2T>A (n.5060+2T>A)
c.5123+2T>A (n.5123+2T>A)
c.5171+2T>A (n.5171+2T>A)
c.5153+2T>A (n.5153+2T>A)
c.5081+2T>A (n.5081+2T>A)
c.5108+2T>A (n.5108+2T>A)
c.5111+2T>A (n.5111+2T>A)
c.5150+2T>A (n.5150+2T>A)
c.5120+2T>A (n.5120+2T>A)
n.1942+2T>A
c.5015+2T>A (n.5015+2T>A)
c.5078+2T>A (n.5078+2T>A)
c.5018+2T>A (n.5018+2T>A)
c.5216+2T>A (n.5216+2T>A)
c.5213+2T>A (n.5213+2T>A)
n.5376T>A
2g.71664440T>CCA347220710DYSFc.2588+2T>C (n.2588+2T>C)
c.1805+2T>C (n.1805+2T>C)
c.1913+2T>C (n.1913+2T>C)
c.5057+2T>C (n.5057+2T>C)
c.5174+2T>C (n.5174+2T>C)
c.5060+2T>C (n.5060+2T>C)
c.5123+2T>C (n.5123+2T>C)
c.5171+2T>C (n.5171+2T>C)
c.5153+2T>C (n.5153+2T>C)
c.5081+2T>C (n.5081+2T>C)
c.5108+2T>C (n.5108+2T>C)
c.5111+2T>C (n.5111+2T>C)
c.5150+2T>C (n.5150+2T>C)
c.5120+2T>C (n.5120+2T>C)
n.1942+2T>C
c.5015+2T>C (n.5015+2T>C)
c.5078+2T>C (n.5078+2T>C)
c.5018+2T>C (n.5018+2T>C)
c.5216+2T>C (n.5216+2T>C)
c.5213+2T>C (n.5213+2T>C)
n.5376T>C
 ClinVar dbSNP
2g.71664440T>GCA347220711DYSFc.2588+2T>G (n.2588+2T>G)
c.1805+2T>G (n.1805+2T>G)
c.1913+2T>G (n.1913+2T>G)
c.5057+2T>G (n.5057+2T>G)
c.5174+2T>G (n.5174+2T>G)
c.5060+2T>G (n.5060+2T>G)
c.5123+2T>G (n.5123+2T>G)
c.5171+2T>G (n.5171+2T>G)
c.5153+2T>G (n.5153+2T>G)
c.5081+2T>G (n.5081+2T>G)
c.5108+2T>G (n.5108+2T>G)
c.5111+2T>G (n.5111+2T>G)
c.5150+2T>G (n.5150+2T>G)
c.5120+2T>G (n.5120+2T>G)
n.1942+2T>G
c.5015+2T>G (n.5015+2T>G)
c.5078+2T>G (n.5078+2T>G)
c.5018+2T>G (n.5018+2T>G)
c.5216+2T>G (n.5216+2T>G)
c.5213+2T>G (n.5213+2T>G)
n.5376T>G
2g.71664440T=CA1260149808DYSFc.2588+2T= (n.2588+2T=)
c.1805+2T= (n.1805+2T=)
c.1913+2T= (n.1913+2T=)
c.5057+2T= (n.5057+2T=)
c.5174+2T= (n.5174+2T=)
c.5060+2T= (n.5060+2T=)
c.5123+2T= (n.5123+2T=)
c.5171+2T= (n.5171+2T=)
c.5153+2T= (n.5153+2T=)
c.5081+2T= (n.5081+2T=)
c.5108+2T= (n.5108+2T=)
c.5111+2T= (n.5111+2T=)
c.5150+2T= (n.5150+2T=)
c.5120+2T= (n.5120+2T=)
n.1942+2T=
c.5015+2T= (n.5015+2T=)
c.5078+2T= (n.5078+2T=)
c.5018+2T= (n.5018+2T=)
c.5216+2T= (n.5216+2T=)
c.5213+2T= (n.5213+2T=)
n.5376T=
2g.71664441A>GCA2563984298DYSFc.2588+3A>G (n.2588+3A>G)
c.1805+3A>G (n.1805+3A>G)
c.1913+3A>G (n.1913+3A>G)
c.5057+3A>G (n.5057+3A>G)
c.5174+3A>G (n.5174+3A>G)
c.5060+3A>G (n.5060+3A>G)
c.5123+3A>G (n.5123+3A>G)
c.5171+3A>G (n.5171+3A>G)
c.5153+3A>G (n.5153+3A>G)
c.5081+3A>G (n.5081+3A>G)
c.5108+3A>G (n.5108+3A>G)
c.5111+3A>G (n.5111+3A>G)
c.5150+3A>G (n.5150+3A>G)
c.5120+3A>G (n.5120+3A>G)
n.1942+3A>G
c.5015+3A>G (n.5015+3A>G)
c.5078+3A>G (n.5078+3A>G)
c.5018+3A>G (n.5018+3A>G)
c.5216+3A>G (n.5216+3A>G)
c.5213+3A>G (n.5213+3A>G)
n.5377A>G
2g.71664442C=CA1260149809DYSFc.2588+4C= (n.2588+4C=)
c.1805+4C= (n.1805+4C=)
c.1913+4C= (n.1913+4C=)
c.5057+4C= (n.5057+4C=)
c.5174+4C= (n.5174+4C=)
c.5060+4C= (n.5060+4C=)
c.5123+4C= (n.5123+4C=)
c.5171+4C= (n.5171+4C=)
c.5153+4C= (n.5153+4C=)
c.5081+4C= (n.5081+4C=)
c.5108+4C= (n.5108+4C=)
c.5111+4C= (n.5111+4C=)
c.5150+4C= (n.5150+4C=)
c.5120+4C= (n.5120+4C=)
n.1942+4C=
c.5015+4C= (n.5015+4C=)
c.5078+4C= (n.5078+4C=)
c.5018+4C= (n.5018+4C=)
c.5216+4C= (n.5216+4C=)
c.5213+4C= (n.5213+4C=)
n.5378C=
2g.71664442C>GCA533655851DYSFc.2588+4C>G (n.2588+4C>G)
c.1805+4C>G (n.1805+4C>G)
c.1913+4C>G (n.1913+4C>G)
c.5057+4C>G (n.5057+4C>G)
c.5174+4C>G (n.5174+4C>G)
c.5060+4C>G (n.5060+4C>G)
c.5123+4C>G (n.5123+4C>G)
c.5171+4C>G (n.5171+4C>G)
c.5153+4C>G (n.5153+4C>G)
c.5081+4C>G (n.5081+4C>G)
c.5108+4C>G (n.5108+4C>G)
c.5111+4C>G (n.5111+4C>G)
c.5150+4C>G (n.5150+4C>G)
c.5120+4C>G (n.5120+4C>G)
n.1942+4C>G
c.5015+4C>G (n.5015+4C>G)
c.5078+4C>G (n.5078+4C>G)
c.5018+4C>G (n.5018+4C>G)
c.5216+4C>G (n.5216+4C>G)
c.5213+4C>G (n.5213+4C>G)
n.5378C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71664442C>TCA1707267DYSFc.2588+4C>T (n.2588+4C>T)
c.1805+4C>T (n.1805+4C>T)
c.1913+4C>T (n.1913+4C>T)
c.5057+4C>T (n.5057+4C>T)
c.5174+4C>T (n.5174+4C>T)
c.5060+4C>T (n.5060+4C>T)
c.5123+4C>T (n.5123+4C>T)
c.5171+4C>T (n.5171+4C>T)
c.5153+4C>T (n.5153+4C>T)
c.5081+4C>T (n.5081+4C>T)
c.5108+4C>T (n.5108+4C>T)
c.5111+4C>T (n.5111+4C>T)
c.5150+4C>T (n.5150+4C>T)
c.5120+4C>T (n.5120+4C>T)
n.1942+4C>T
c.5015+4C>T (n.5015+4C>T)
c.5078+4C>T (n.5078+4C>T)
c.5018+4C>T (n.5018+4C>T)
c.5216+4C>T (n.5216+4C>T)
c.5213+4C>T (n.5213+4C>T)
n.5378C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71664442dupCA913090749DYSFc.2588+4dup (n.2588+4dup)
c.1805+4dup (n.1805+4dup)
c.1913+4dup (n.1913+4dup)
c.5057+4dup (n.5057+4dup)
c.5174+4dup (n.5174+4dup)
c.5060+4dup (n.5060+4dup)
c.5123+4dup (n.5123+4dup)
c.5171+4dup (n.5171+4dup)
c.5153+4dup (n.5153+4dup)
c.5081+4dup (n.5081+4dup)
c.5108+4dup (n.5108+4dup)
c.5111+4dup (n.5111+4dup)
c.5150+4dup (n.5150+4dup)
c.5120+4dup (n.5120+4dup)
n.1942+4dup
c.5015+4dup (n.5015+4dup)
c.5078+4dup (n.5078+4dup)
c.5018+4dup (n.5018+4dup)
c.5216+4dup (n.5216+4dup)
c.5213+4dup (n.5213+4dup)
n.5378dup
2g.71664442_71664444delCA915940975DYSFc.2588+4_2588+6del (n.2588+4_2588+6del)
c.1805+4_1805+6del (n.1805+4_1805+6del)
c.1913+4_1913+6del (n.1913+4_1913+6del)
c.5057+4_5057+6del (n.5057+4_5057+6del)
c.5174+4_5174+6del (n.5174+4_5174+6del)
c.5060+4_5060+6del (n.5060+4_5060+6del)
c.5123+4_5123+6del (n.5123+4_5123+6del)
c.5171+4_5171+6del (n.5171+4_5171+6del)
c.5153+4_5153+6del (n.5153+4_5153+6del)
c.5081+4_5081+6del (n.5081+4_5081+6del)
c.5108+4_5108+6del (n.5108+4_5108+6del)
c.5111+4_5111+6del (n.5111+4_5111+6del)
c.5150+4_5150+6del (n.5150+4_5150+6del)
c.5120+4_5120+6del (n.5120+4_5120+6del)
n.1942+4_1942+6del
c.5015+4_5015+6del (n.5015+4_5015+6del)
c.5078+4_5078+6del (n.5078+4_5078+6del)
c.5018+4_5018+6del (n.5018+4_5018+6del)
c.5216+4_5216+6del (n.5216+4_5216+6del)
c.5213+4_5213+6del (n.5213+4_5213+6del)
n.5378_5380del
2g.71664443G>ACA253906DYSFc.2588+5G>A (n.2588+5G>A)
c.1805+5G>A (n.1805+5G>A)
c.1913+5G>A (n.1913+5G>A)
c.5057+5G>A (n.5057+5G>A)
c.5174+5G>A (n.5174+5G>A)
c.5060+5G>A (n.5060+5G>A)
c.5123+5G>A (n.5123+5G>A)
c.5171+5G>A (n.5171+5G>A)
c.5153+5G>A (n.5153+5G>A)
c.5081+5G>A (n.5081+5G>A)
c.5108+5G>A (n.5108+5G>A)
c.5111+5G>A (n.5111+5G>A)
c.5150+5G>A (n.5150+5G>A)
c.5120+5G>A (n.5120+5G>A)
n.1942+5G>A
c.5015+5G>A (n.5015+5G>A)
c.5078+5G>A (n.5078+5G>A)
c.5018+5G>A (n.5018+5G>A)
c.5216+5G>A (n.5216+5G>A)
c.5213+5G>A (n.5213+5G>A)
n.5379G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71664443G=CA1260149810DYSFc.2588+5G= (n.2588+5G=)
c.1805+5G= (n.1805+5G=)
c.1913+5G= (n.1913+5G=)
c.5057+5G= (n.5057+5G=)
c.5174+5G= (n.5174+5G=)
c.5060+5G= (n.5060+5G=)
c.5123+5G= (n.5123+5G=)
c.5171+5G= (n.5171+5G=)
c.5153+5G= (n.5153+5G=)
c.5081+5G= (n.5081+5G=)
c.5108+5G= (n.5108+5G=)
c.5111+5G= (n.5111+5G=)
c.5150+5G= (n.5150+5G=)
c.5120+5G= (n.5120+5G=)
n.1942+5G=
c.5015+5G= (n.5015+5G=)
c.5078+5G= (n.5078+5G=)
c.5018+5G= (n.5018+5G=)
c.5216+5G= (n.5216+5G=)
c.5213+5G= (n.5213+5G=)
n.5379G=
2g.71664443G>TCA10603780DYSFc.2588+5G>T (n.2588+5G>T)
c.1805+5G>T (n.1805+5G>T)
c.1913+5G>T (n.1913+5G>T)
c.5057+5G>T (n.5057+5G>T)
c.5174+5G>T (n.5174+5G>T)
c.5060+5G>T (n.5060+5G>T)
c.5123+5G>T (n.5123+5G>T)
c.5171+5G>T (n.5171+5G>T)
c.5153+5G>T (n.5153+5G>T)
c.5081+5G>T (n.5081+5G>T)
c.5108+5G>T (n.5108+5G>T)
c.5111+5G>T (n.5111+5G>T)
c.5150+5G>T (n.5150+5G>T)
c.5120+5G>T (n.5120+5G>T)
n.1942+5G>T
c.5015+5G>T (n.5015+5G>T)
c.5078+5G>T (n.5078+5G>T)
c.5018+5G>T (n.5018+5G>T)
c.5216+5G>T (n.5216+5G>T)
c.5213+5G>T (n.5213+5G>T)
n.5379G>T
 ClinVar dbSNP gnomAD v4
2g.71664444_71664445dupCA658821120DYSFc.2588+6_2588+7dup (n.2588+6_2588+7dup)
c.1805+6_1805+7dup (n.1805+6_1805+7dup)
c.1913+6_1913+7dup (n.1913+6_1913+7dup)
c.5057+6_5057+7dup (n.5057+6_5057+7dup)
c.5174+6_5174+7dup (n.5174+6_5174+7dup)
c.5060+6_5060+7dup (n.5060+6_5060+7dup)
c.5123+6_5123+7dup (n.5123+6_5123+7dup)
c.5171+6_5171+7dup (n.5171+6_5171+7dup)
c.5153+6_5153+7dup (n.5153+6_5153+7dup)
c.5081+6_5081+7dup (n.5081+6_5081+7dup)
c.5108+6_5108+7dup (n.5108+6_5108+7dup)
c.5111+6_5111+7dup (n.5111+6_5111+7dup)
c.5150+6_5150+7dup (n.5150+6_5150+7dup)
c.5120+6_5120+7dup (n.5120+6_5120+7dup)
n.1942+6_1942+7dup
c.5015+6_5015+7dup (n.5015+6_5015+7dup)
c.5078+6_5078+7dup (n.5078+6_5078+7dup)
c.5018+6_5018+7dup (n.5018+6_5018+7dup)
c.5216+6_5216+7dup (n.5216+6_5216+7dup)
c.5213+6_5213+7dup (n.5213+6_5213+7dup)
n.5380_5381dup
 ClinVar dbSNP gnomAD v4

Number of alleles fetched