NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
|
rs185119682
|
0.00053
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)
|
rs146064054
|
0.00021
|
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)
|
rs150717638
|
0.00014
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00007
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)
|
rs182450244
|
0.00005
|
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys)
|
rs539727858
|
0.00005
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
|
rs764931697
|
0.00004
|
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)
|
rs762486621
|
0.00004
|
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)
|
rs779159879
|
0.00004
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)
|
rs372952394
|
0.00004
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met)
|
rs766924837
|
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.1718G>A (p.Arg573Gln)
|
rs755829878
|
0.00002
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)
|
rs957111625
|
0.00002
|
NM_001130987.2(DYSF):c.785G>A (p.Arg262His)
|
rs764849844
|
0.00002
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)
|
rs375071568
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser)
|
rs772518246
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu)
|
rs199827126
|
0.00001
|
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)
|
rs1342179740
|
0.00001
|
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys)
|
rs886043489
|
0.00001
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
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.1426C>T (p.Gln476Ter)
|
rs2089169741
|
|
NM_001130987.2(DYSF):c.147+1G>A
|
rs2082833010
|
|
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
|
|
|
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
|
|
|
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.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.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.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.3092A>G (p.Glu1031Gly)
|
rs2152815107
|
|
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
|
|
|
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
|
|
|
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.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
|
rs2093222376
|
|
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.3895A>T (p.Lys1299Ter)
|
rs1462064763
|
|
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
|
|
|
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
|
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
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.4353C>G (p.Tyr1451Ter)
|
rs886043145
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
|
|
|
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
|
|
|
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.4982C>T (p.Thr1661Met)
|
rs144383140
|
|
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
|
rs868779799
|
|
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
|
|
|
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)
|
rs753279446
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
|
|
|
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
|
|
|
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.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.5405del (p.Glu1802fs)
|
rs2095035479
|
|
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
|
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
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.5680_5681insC (p.Asp1894fs)
|
|
|
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
|
|
|
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.6259ATCCTCTTCATC[1] (p.2087ILFI[1])
|
rs749619435
|
|
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
|
|
|
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
|
|
|
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
|
|
|
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
|
|
|
NM_001130987.2(DYSF):c.759+1G>C
|
rs398123800
|
|
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)
|
rs759065714
|
|
NM_001130987.2(DYSF):c.922del (p.Glu308fs)
|
rs1553522133
|
|
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
|
|
|
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
|
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|