NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs)
|
rs779969348
|
0.00002
|
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)
|
rs752689148
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)
|
rs769721856
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4528-2A>G
|
rs1213965862
|
0.00001
|
NM_001130987.2(DYSF):c.460+1G>A
|
rs1278864604
|
0.00001
|
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
|
rs779987458
|
0.00001
|
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)
|
rs886044422
|
0.00001
|
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)
|
rs1342179740
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5784+1G>A
|
rs909564120
|
0.00001
|
NM_001130987.2(DYSF):c.5884+1G>A
|
rs756689063
|
0.00001
|
NM_001130987.2(DYSF):c.5885-1G>C
|
rs771257070
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu)
|
rs200759807
|
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1033+2T>C
|
rs886042617
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)
|
rs2152742282
|
|
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
|
|
|
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
|
|
|
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)
|
rs2082829594
|
|
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
|
|
|
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)
|
rs2087900330
|
|
NM_001130987.2(DYSF):c.1277-2A>C
|
rs1553531682
|
|
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)
|
rs2089169741
|
|
NM_001130987.2(DYSF):c.1493+1G>A
|
rs1553536007
|
|
NM_001130987.2(DYSF):c.1494-1G>A
|
rs398123768
|
|
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
|
|
|
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)
|
rs139258703
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
|
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)
|
rs2090909751
|
|
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
|
|
|
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)
|
rs886042633
|
|
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
|
|
|
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
|
|
|
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)
|
rs201049092
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)
|
rs2082945195
|
|
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
|
|
|
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)
|
rs2091142154
|
|
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)
|
rs2091144091
|
|
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
|
|
|
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
|
|
|
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
|
|
|
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
|
|
|
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
|
|
|
NM_001130987.2(DYSF):c.240-1G>A
|
rs1553518087
|
|
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
|
|
|
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)
|
rs2091951931
|
|
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
|
rs2092204417
|
|
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)
|
rs2092205152
|
|
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)
|
rs2092208616
|
|
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)
|
rs2092209337
|
|
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
|
|
|
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)
|
rs2092210085
|
|
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)
|
rs2092211777
|
|
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
|
|
|
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
|
|
|
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)
|
rs2092231526
|
|
NM_001130987.2(DYSF):c.2864+1dup
|
|
|
NM_001130987.2(DYSF):c.2865-2A>C
|
rs886043964
|
|
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)
|
rs763925689
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
|
|
|
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
|
rs2092343409
|
|
NM_001130987.2(DYSF):c.3085+1G>T
|
rs1553555585
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)
|
rs753711667
|
|
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
|
|
|
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)
|
rs2092369130
|
|
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
|
|
|
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
|
|
|
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
|
|
|
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)
|
rs1666836481
|
|
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
|
|
|
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)
|
rs1252415299
|
|
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
|
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
|
|
|
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
|
rs2093222376
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)
|
rs2093464314
|
|
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
|
|
|
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
|
rs143393575
|
|
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)
|
rs773773555
|
|
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)
|
rs1574264671
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)
|
rs1553376558
|
|
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs)
|
rs1574277160
|
|
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)
|
rs1462064763
|
|
NM_001130987.2(DYSF):c.3897+1G>A
|
rs1553376691
|
|
NM_001130987.2(DYSF):c.3957+2T>A
|
rs1553377764
|
|
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs)
|
rs1553381945
|
|
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)
|
rs1558613592
|
|
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
|
|
|
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
|
|
|
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)
|
rs1574340607
|
|
NM_001130987.2(DYSF):c.4221+5del
|
rs1574341049
|
|
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
|
|
|
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
|
|
|
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
|
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
|
|
|
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
|
|
|
NM_001130987.2(DYSF):c.4626+1G>A
|
rs1558708492
|
|
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
|
|
|
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)
|
rs1553408378
|
|
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)
|
rs1572994572
|
|
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)
|
rs770905160
|
|
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)
|
rs1573009747
|
|
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)
|
rs2094828804
|
|
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
|
|
|
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)
|
rs2094861411
|
|
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
|
rs868779799
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
|
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
|
|
|
NM_001130987.2(DYSF):c.5174+2T>C
|
rs1553412826
|
|
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
|
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
|
|
|
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)
|
rs1558771348
|
|
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
|
|
|
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)
|
rs2094975129
|
|
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
|
|
|
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
|
|
|
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
|
|
|
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
|
|
|
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)
|
rs2094975881
|
|
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)
|
rs2094976185
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)
|
rs2094976441
|
|
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
|
|
|
NM_001130987.2(DYSF):c.5457+1G>A
|
rs1553414413
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys)
|
rs1573094789
|
|
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)
|
rs2095073059
|
|
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
|
|
|
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)
|
rs1320752132
|
|
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)
|
rs1553416039
|
|
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)
|
rs1233961202
|
|
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
|
|
|
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)
|
rs762258343
|
|
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
|
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
|
|
|
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
|
|
|
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
|
rs2095289978
|
|
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
|
|
|
NM_001130987.2(DYSF):c.6174-2A>G
|
rs1451269647
|
|
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)
|
rs1553422709
|
|
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
|
|
|
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.875C>G (p.Pro292Arg)
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rs1559053603
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NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)
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rs794727851
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NM_001130987.2(DYSF):c.888+1G>A
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rs886044377
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NM_001130987.2(DYSF):c.952-2A>G
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rs1553522730
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NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
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rs1553522751
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NM_001130987.2(DYSF):c.982del (p.Ala328fs)
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NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
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rs121908963
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NM_001130987.2(DYSF):c.994del (p.Glu332fs)
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NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
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NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
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NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
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NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs)
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rs1553541329
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NM_003494.4(DYSF):c.1A>G (p.Met1Val)
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rs1259378167
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NM_003494.4(DYSF):c.2T>C (p.Met1Thr)
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rs1459713589
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NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)
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rs1553495983
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NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
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Single allele
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