NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)
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rs1342179740
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0.00001
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NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
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NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)
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rs2082829594
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NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
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NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)
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rs2087900330
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NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)
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rs2089169741
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NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
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NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
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NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)
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rs2090909751
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NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
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NM_001130987.2(DYSF):c.181del (p.Asp61fs)
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NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
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NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)
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rs2082945195
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NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
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NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)
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rs2091142154
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NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)
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rs2091144091
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NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
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NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
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NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
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NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
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NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
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NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
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NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)
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rs2091951931
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NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
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rs2092204417
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NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)
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rs2092205152
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NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)
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rs2092208616
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NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)
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rs2092209337
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NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
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NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)
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rs2092210085
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NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)
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rs2092211777
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NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
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NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
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NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)
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rs2092231526
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NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)
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rs763925689
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NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
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NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
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rs2092343409
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NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
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NM_001130987.2(DYSF):c.316del (p.Leu106fs)
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NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)
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rs2092369130
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NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
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NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
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NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
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NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)
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rs1666836481
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NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
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NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)
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rs1252415299
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NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
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NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
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rs2093222376
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NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)
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rs2093464314
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NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
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NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
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rs143393575
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NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)
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rs773773555
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NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)
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rs1462064763
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NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
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NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
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NM_001130987.2(DYSF):c.431del (p.Pro144fs)
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NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
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NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
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NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
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rs576130413
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NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
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NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
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NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
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NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)
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rs2094828804
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NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
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NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)
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rs2094861411
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NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
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rs868779799
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NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
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NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
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rs758992291
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NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
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NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
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NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
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NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)
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rs2094975129
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NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
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NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
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NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
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NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)
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rs2094975881
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NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)
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rs2094976185
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NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)
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rs2094976441
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NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
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NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)
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rs2095073059
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NM_001130987.2(DYSF):c.561del (p.Gly188fs)
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NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)
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rs1320752132
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NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
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NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
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NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
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NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
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rs2095289978
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NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
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NM_001130987.2(DYSF):c.640del (p.Ala214fs)
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NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
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NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
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NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
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NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)
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rs759065714
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NM_001130987.2(DYSF):c.994del (p.Glu332fs)
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