ClinVar Miner

List of variants in gene DYSF studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1315
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3928-85G>T rs1529408 0.96005
NM_001130987.2(DYSF):c.3898-206A>T rs2303604 0.95304
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_001130987.2(DYSF):c.5003+1320A>G rs3791825 0.88770
NM_001130987.2(DYSF):c.5784+199A>G rs3791829 0.87069
NM_001130987.2(DYSF):c.4626+43A>G rs84182 0.87024
NM_001130987.2(DYSF):c.4528-56A>G rs84181 0.85683
NM_001130987.2(DYSF):c.6064-201G>T rs7558412 0.84762
NM_001130987.2(DYSF):c.1277-48A>G rs4852800 0.81805
NM_001130987.2(DYSF):c.1034-68T>C rs12713755 0.81086
NM_001130987.2(DYSF):c.1003-73A>G rs11675897 0.81016
NM_001130987.2(DYSF):c.1577-1825A>G rs934061 0.79791
NM_001130987.2(DYSF):c.5004-37C>T rs2303599 0.79706
NM_001130987.2(DYSF):c.5785-41C>T rs2559081 0.77107
NM_001130987.2(DYSF):c.2865-85C>G rs10205023 0.76144
NM_001130987.2(DYSF):c.1807-288T>C rs7599496 0.75744
NM_001130987.2(DYSF):c.951+268T>C rs6546702 0.75215
NM_001130987.2(DYSF):c.1985-116T>C rs2303597 0.72705
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.3575-256G>C rs6737427 0.70685
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.4527+204C>A rs12995778 0.69187
NM_001130987.2(DYSF):c.1033+94G>T rs11687223 0.68496
NM_001130987.2(DYSF):c.1033+230G>T rs12997658 0.68495
NM_001130987.2(DYSF):c.1450-88A>G rs4852802 0.67986
NM_001130987.2(DYSF):c.3496+187A>G rs1473228 0.67177
NM_001130987.2(DYSF):c.1034-196C>G rs12713754 0.65676
NM_001130987.2(DYSF):c.5004-162C>T rs2303598 0.63701
NM_001130987.2(DYSF):c.1576+118G>A rs7609409 0.60855
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_001130987.2(DYSF):c.1806+182G>A rs7582130 0.60050
NM_001130987.2(DYSF):c.1577-1826C>T rs736096 0.59835
NM_001130987.2(DYSF):c.3403-121G>C rs3811611 0.59433
NM_001130987.2(DYSF):c.2979+112A>C rs10183967 0.57695
NM_001130987.2(DYSF):c.2110-331C>G rs745993 0.57350
NM_001130987.2(DYSF):c.240-289G>A rs12713753 0.52797
NM_001130987.2(DYSF):c.3756+133T>C rs2303600 0.50294
NM_001130987.2(DYSF):c.1034-20G>A rs12713756 0.48623
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001130987.2(DYSF):c.3756+227C>T rs2303602 0.39619
NM_001130987.2(DYSF):c.3756+134A>T rs2303601 0.39553
NM_001130987.2(DYSF):c.3229-306G>A rs12328124 0.39228
NM_001130987.2(DYSF):c.148-199T>G rs34707417 0.29638
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.3756+202T>C rs934062 0.23509
NM_001130987.2(DYSF):c.3757-277C>T rs13028056 0.21660
NM_001130987.2(DYSF):c.460+243G>A rs58363669 0.21493
NM_001130987.2(DYSF):c.5785-185G>A rs2559080 0.20930
NM_001130987.2(DYSF):c.3574+153A>T rs720541 0.20165
NM_001130987.2(DYSF):c.460+150A>G rs57229705 0.20055
NM_001130987.2(DYSF):c.-128G>A rs6752632 0.19847
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_001130987.2(DYSF):c.2864+244G>C rs111459768 0.19156
NM_001130987.2(DYSF):c.3086-17G>A rs3764971 0.18932
NM_001130987.2(DYSF):c.4388-246C>T rs58806374 0.18924
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_003494.4(DYSF):c.88+12589T>C rs58981291 0.17695
NM_001130987.2(DYSF):c.91+280A>G rs61322674 0.17679
NM_001130987.2(DYSF):c.-30G>A rs61333801 0.17633
NM_001130987.2(DYSF):c.2565+234G>T rs17007067 0.17387
NM_001130987.2(DYSF):c.3402+63G>A rs75127120 0.17071
NM_003494.3(DYSF):c.-497T>C rs6546693 0.15783
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001130987.2(DYSF):c.2864+84G>C rs62143855 0.14839
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001130987.2(DYSF):c.148-277T>C rs12998057 0.14002
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001130987.2(DYSF):c.1806+265C>T rs11690146 0.13358
NM_001130987.2(DYSF):c.888+97T>C rs13428194 0.13230
NM_003494.4(DYSF):c.-179C>A rs6741336 0.13159
NM_001130987.2(DYSF):c.1494-163G>T rs79617374 0.13069
NM_001130987.2(DYSF):c.1576+253T>A rs78115186 0.13063
NM_001130987.2(DYSF):c.1034-64C>T rs55695728 0.12659
NM_001130987.2(DYSF):c.4221+96C>T rs2016605 0.12613
NM_001130987.2(DYSF):c.760-17C>T rs61104194 0.11792
NM_001130987.2(DYSF):c.6174-297T>C rs11897186 0.11092
NM_001130987.2(DYSF):c.460+222G>A rs59644933 0.11084
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_001130987.2(DYSF):c.889-104G>A rs13417592 0.09831
NM_001130987.2(DYSF):c.1002+216C>T rs13402171 0.09379
NM_001130987.2(DYSF):c.952-135C>T rs79470017 0.09371
NM_001130987.2(DYSF):c.148-91C>T rs35628632 0.09296
NM_001130987.2(DYSF):c.1149+54C>T rs56343439 0.09198
NM_001130987.2(DYSF):c.4221+119A>G rs1814333 0.08837
NM_001130987.2(DYSF):c.239+20G>A rs12470028 0.08061
NM_001130987.2(DYSF):c.2217-103C>T rs115616395 0.07843
NM_001130987.2(DYSF):c.91+50C>T rs71416709 0.07460
NM_001130987.2(DYSF):c.951+83C>T rs11898499 0.06531
NM_001130987.2(DYSF):c.951+82A>G rs11887692 0.06528
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001130987.2(DYSF):c.3958-79C>T rs67190543 0.06407
NM_001130987.2(DYSF):c.4627-305C>T rs59664907 0.06315
NM_001130987.2(DYSF):c.5003+1380G>A rs76541882 0.06204
NM_001130987.2(DYSF):c.3927+97C>T rs75726258 0.05966
NM_001130987.2(DYSF):c.5003+1393G>A rs72904647 0.05957
NM_003494.4(DYSF):c.88+12457C>A rs113038592 0.05528
NM_001130987.2(DYSF):c.1577-103G>A rs2303592 0.05500
NM_001130987.2(DYSF):c.1693-62C>T rs2303593 0.05035
NM_001130987.2(DYSF):c.240-195C>T rs13389635 0.04935
NM_001130987.2(DYSF):c.1576+130C>G rs10174042 0.04723
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_001130987.2(DYSF):c.1807-24C>G rs2303595 0.04339
NM_001130987.2(DYSF):c.1380+136C>T rs72900820 0.04244
NM_001130987.2(DYSF):c.1002+89T>C rs11688242 0.04223
NM_001130987.2(DYSF):c.5318-225A>G rs57544779 0.04066
NM_001130987.2(DYSF):c.1033+43del rs149875093 0.03649
NM_001130987.2(DYSF):c.759+51C>T rs79396630 0.03545
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_001130987.2(DYSF):c.951+39T>C rs74384941 0.03312
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.889-68G>A rs28500662 0.03261
NM_001130987.2(DYSF):c.3403-112T>C rs72827583 0.03260
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_001130987.2(DYSF):c.1985-31C>A rs13424178 0.03166
NM_001130987.2(DYSF):c.460+82C>T rs79084610 0.03125
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001130987.2(DYSF):c.4528-127C>T rs72904631 0.02962
NM_001130987.2(DYSF):c.*199T>G rs13429381 0.02954
NM_001130987.2(DYSF):c.6174-83T>A rs3749027 0.02907
NM_001130987.2(DYSF):c.147+133T>C rs75490646 0.02904
NM_001130987.2(DYSF):c.4527+250T>A rs116296803 0.02674
NM_001130987.2(DYSF):c.239+31C>G rs78958249 0.02626
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001130987.2(DYSF):c.2864+227T>A rs574502729 0.02492
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_001130987.2(DYSF):c.951+190G>T rs77936231 0.02463
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_001130987.2(DYSF):c.6064-273A>G rs59587819 0.02329
NM_001130987.2(DYSF):c.3928-273G>A rs4852812 0.02309
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_001130987.2(DYSF):c.461-228G>A rs10187280 0.02225
NM_001130987.2(DYSF):c.1693-49C>T rs2303594 0.02217
NM_001130987.2(DYSF):c.345+232C>T rs79388826 0.02216
NM_001130987.2(DYSF):c.951+99C>T rs112847324 0.02199
NM_001130987.2(DYSF):c.1449+53C>T rs79104651 0.02196
NM_001130987.2(DYSF):c.1276+172A>G rs116505531 0.02177
NM_003494.4(DYSF):c.88+12487C>A rs72896830 0.02177
NM_001130987.2(DYSF):c.2410-117A>G rs72827550 0.02151
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001130987.2(DYSF):c.6064-151A>G rs13419853 0.02028
NM_001130987.2(DYSF):c.1450-89C>T rs115823472 0.01905
NM_001130987.2(DYSF):c.889-34C>T rs115184725 0.01903
NM_001130987.2(DYSF):c.2110-43G>T rs72827543 0.01798
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001130987.2(DYSF):c.5457+181T>C rs148625860 0.01719
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_001130987.2(DYSF):c.1577-1852G>A rs78933613 0.01667
NM_001130987.2(DYSF):c.1692+206C>T rs76509802 0.01665
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_001130987.2(DYSF):c.3756+273G>A rs114239132 0.01623
NM_001130987.2(DYSF):c.3229-229T>C rs115634094 0.01592
NM_001130987.2(DYSF):c.1577-1522T>G rs114007258 0.01578
NM_001130987.2(DYSF):c.4527+141C>G rs75026991 0.01538
NM_001130987.2(DYSF):c.92-292A>T rs11900174 0.01508
NM_001130987.2(DYSF):c.1494-115C>G rs111339485 0.01496
NM_001130987.2(DYSF):c.3575-70G>A rs77226045 0.01410
NM_001130987.2(DYSF):c.2864+59C>T rs150759843 0.01369
NM_001130987.2(DYSF):c.3229-31G>A rs72902605 0.01353
NM_001130987.2(DYSF):c.6064-184T>A rs79215518 0.01312
NM_001130987.2(DYSF):c.4755+58A>G rs75563048 0.01281
NM_001130987.2(DYSF):c.4627-292A>G rs3749025 0.01279
NM_001130987.2(DYSF):c.4912-104C>T rs114239741 0.01268
NM_001130987.2(DYSF):c.4756-38G>A rs61404609 0.01254
NM_003494.4(DYSF):c.88+12606A>C rs112901379 0.01222
NM_001130987.2(DYSF):c.4221+303T>C rs76000919 0.01209
NM_001130987.2(DYSF):c.5458-221C>A rs13420872 0.01181
NM_001130987.2(DYSF):c.3228+224_3228+225insGGGA rs1423628526 0.01176
NM_001130987.2(DYSF):c.6063+73G>A rs116792589 0.01152
NM_001130987.2(DYSF):c.5884+71C>T rs72904668 0.01147
NM_001130987.2(DYSF):c.5784+298G>A rs115093136 0.01132
NM_001130987.2(DYSF):c.554-75del rs199799717 0.01115
NM_001130987.2(DYSF):c.346-95C>T rs10181120 0.01109
NM_001130987.2(DYSF):c.2216+16C>T rs111389127 0.01060
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_001130987.2(DYSF):c.3958-45T>A rs114060577 0.01013
NM_001130987.2(DYSF):c.1380+67G>A rs141275858 0.01012
NM_001130987.2(DYSF):c.346-29A>G rs115902581 0.01007
NM_001130987.2(DYSF):c.3574+282C>T rs114893667 0.00998
NM_001130987.2(DYSF):c.2109+50A>G rs733654 0.00970
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_001130987.2(DYSF):c.3927+203C>T rs77826716 0.00918
NM_001130987.2(DYSF):c.2566-46G>A rs75599232 0.00908
NM_001130987.2(DYSF):c.6173+232T>C rs60240006 0.00898
NM_001130987.2(DYSF):c.5784+282C>T rs111422424 0.00889
NM_001130987.2(DYSF):c.1985-195C>T rs138910206 0.00879
NM_001130987.2(DYSF):c.1277-203T>G rs114889812 0.00874
NM_001130987.2(DYSF):c.3228+208A>C rs143560409 0.00838
NM_001130987.2(DYSF):c.2216+59G>A rs116203238 0.00791
NM_001130987.2(DYSF):c.1577-1805A>G rs115183182 0.00787
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001130987.2(DYSF):c.5642+64T>C rs112864238 0.00752
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_001130987.2(DYSF):c.2410-51C>T rs28526786 0.00734
NM_001130987.2(DYSF):c.5003+970A>G rs114335818 0.00731
NM_001130987.2(DYSF):c.1494-76G>A rs140952123 0.00717
NM_001130987.2(DYSF):c.1149+301C>T rs142296584 0.00708
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_001130987.2(DYSF):c.3574+26C>G rs115981643 0.00705
NM_001130987.2(DYSF):c.4756-148C>A rs11892774 0.00685
NM_001130987.2(DYSF):c.3496+114C>T rs143725597 0.00661
NM_001130987.2(DYSF):c.3928-189C>T rs73942350 0.00660
NM_001130987.2(DYSF):c.3496+174C>T rs72902629 0.00653
NM_001130987.2(DYSF):c.6064-33G>A rs117788234 0.00650
NM_001130987.2(DYSF):c.5317+192C>T rs17007169 0.00636
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_001130987.2(DYSF):c.2409+237G>A rs60769782 0.00625
NM_001130987.2(DYSF):c.2109+177T>C rs73942325 0.00616
NM_001130987.2(DYSF):c.3403-103C>T rs144642368 0.00610
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_003494.4(DYSF):c.-34G>T rs192358316 0.00575
NM_001130987.2(DYSF):c.1693-164G>A rs186389055 0.00560
NM_001130987.2(DYSF):c.1150-139G>A rs115491804 0.00559
NM_001130987.2(DYSF):c.1277-80C>T rs115716561 0.00546
NM_001130987.2(DYSF):c.5003+244T>C rs148363981 0.00513
NM_001130987.2(DYSF):c.1149+305A>G rs146081788 0.00479
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_001130987.2(DYSF):c.6174-223G>C rs148772363 0.00470
NM_001130987.2(DYSF):c.4222-290C>T rs114389229 0.00464
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_001130987.2(DYSF):c.951+67C>T rs369361727 0.00457
NM_001130987.2(DYSF):c.1149+55G>A rs114530749 0.00447
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_003494.4(DYSF):c.88+12483C>A rs185114751 0.00418
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001130987.2(DYSF):c.4465-79G>A rs148800982 0.00406
NM_001130987.2(DYSF):c.5643-62C>T rs115495419 0.00391
NM_001130987.2(DYSF):c.3496+145A>G rs560864232 0.00385
NM_001130987.2(DYSF):c.1150-196C>T rs79083299 0.00384
NM_001130987.2(DYSF):c.1276+246C>T rs137868636 0.00383
NM_001130987.2(DYSF):c.4911+25C>A rs139167338 0.00379
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114 0.00373
NM_001130987.2(DYSF):c.5642+187G>A rs79891845 0.00361
NM_001130987.2(DYSF):c.1577-124C>G rs77228121 0.00352
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_001130987.2(DYSF):c.3928-176T>C rs188376511 0.00347
NM_001130987.2(DYSF):c.889-37A>G rs139753518 0.00344
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001130987.2(DYSF):c.5457+232C>A rs114501428 0.00336
NM_001130987.2(DYSF):c.3958-220G>T rs148878647 0.00332
NM_001130987.2(DYSF):c.1003-91A>G rs143035488 0.00329
NM_001130987.2(DYSF):c.1577-199G>A rs143987807 0.00329
NM_001130987.2(DYSF):c.4527+192A>G rs191512096 0.00328
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001130987.2(DYSF):c.4388-245G>A rs147502089 0.00325
NM_001130987.2(DYSF):c.6064-234G>A rs60834597 0.00316
NM_001130987.2(DYSF):c.3574+34G>T rs188015008 0.00307
NM_001130987.2(DYSF):c.5643-128A>T rs115043399 0.00290
NM_001130987.2(DYSF):c.148-172C>T rs138976339 0.00286
NM_003494.4(DYSF):c.-209G>A rs571787761 0.00265
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001130987.2(DYSF):c.3085+62G>A rs151292792 0.00252
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00200
NM_001130987.2(DYSF):c.3575-12C>T rs200680233 0.00190
NM_001130987.2(DYSF):c.5003+28G>A rs187323063 0.00181
NM_001130987.2(DYSF):c.461-33C>A rs563448697 0.00176
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432 0.00168
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001130987.2(DYSF):c.4756-3C>T rs371227553 0.00153
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001130987.2(DYSF):c.889-27A>G rs201128463 0.00094
NM_001130987.2(DYSF):c.346-17C>T rs370498369 0.00092
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_001130987.2(DYSF):c.4059+25G>A rs184640305 0.00083
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001130987.2(DYSF):c.553+10G>A rs375397637 0.00082
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00076
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001130987.2(DYSF):c.3228+205C>A rs149264392 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001130987.2(DYSF):c.1806+29G>A rs192462247 0.00065
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414 0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu) rs143053635 0.00054
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001130987.2(DYSF):c.1276+48C>T rs201698209 0.00047
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00043
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600 0.00037
NM_001130987.2(DYSF):c.3086-9C>T rs185350547 0.00036
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu) rs149408006 0.00034
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr) rs146213322 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765 0.00024
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=) rs138751942 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001130987.2(DYSF):c.5458-17G>A rs147638721 0.00024
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00021
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr) rs745746091 0.00019
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388 0.00018
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) rs199677396 0.00018
NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser) rs766512164 0.00018
NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=) rs149989207 0.00018
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=) rs137855767 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301 0.00017
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr) rs371593605 0.00016
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581 0.00016
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001130987.2(DYSF):c.279C>T (p.Leu93=) rs138870937 0.00015
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077 0.00015
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816 0.00014
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339 0.00013
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His) rs185891286 0.00013
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala) rs1358370392 0.00013
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) rs375068646 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met) rs376358025 0.00012
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe) rs367901920 0.00012
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp) rs200487610 0.00012
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545 0.00012
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile) rs371609233 0.00011
NM_001130987.2(DYSF):c.2864+8G>A rs371686795 0.00011
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=) rs144936357 0.00011
NM_001130987.2(DYSF):c.4126G>A (p.Val1376Met) rs760627822 0.00011
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met) rs144422408 0.00010
NM_001130987.2(DYSF):c.747G>A (p.Pro249=) rs751402861 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp) rs371841411 0.00009
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=) rs149979662 0.00009
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087 0.00009
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751 0.00009
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr) rs143163327 0.00009
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815 0.00009
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716 0.00009
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476 0.00009
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001130987.2(DYSF):c.1449+3G>A rs764771218 0.00008
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met) rs771062534 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) rs763456750 0.00008
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564 0.00008
NM_001130987.2(DYSF):c.4464+7T>C rs369949055 0.00008
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827 0.00008
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu) rs147876220 0.00008
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) rs371816429 0.00007
NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys) rs143355224 0.00006
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886 0.00006
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr) rs376932915 0.00006
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069 0.00006
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) rs538170367 0.00006
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155 0.00006
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn) rs200422222 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu) rs372573603 0.00006
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951 0.00006
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys) rs377706756 0.00006
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn) rs765027886 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.4830C>T (p.Ala1610=) rs375485030 0.00006
NM_001130987.2(DYSF):c.5522A>G (p.Asn1841Ser) rs372204057 0.00006
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886 0.00006
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735 0.00006
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro) rs142265349 0.00006
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424 0.00006
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp) rs185617318 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp) rs755046419 0.00005
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001130987.2(DYSF):c.1737G>A (p.Glu579=) rs370872013 0.00005
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858 0.00005
NM_001130987.2(DYSF):c.3476C>T (p.Thr1159Met) rs140058659 0.00005
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys) rs138097846 0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001130987.2(DYSF):c.4821C>T (p.His1607=) rs771742780 0.00005
NM_001130987.2(DYSF):c.5315T>C (p.Ile1772Thr) rs866367366 0.00005
NM_001130987.2(DYSF):c.5547-4C>T rs373098428 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851 0.00005
NM_001130987.2(DYSF):c.1969C>T (p.Arg657Cys) rs752848496 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2101G>A (p.Asp701Asn) rs998827835 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=) rs145868833 0.00004
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438 0.00004
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812 0.00004
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln) rs748636047 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494 0.00004
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr) rs535367520 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln) rs372226487 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val) rs562368641 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.3499G>A (p.Gly1167Arg) rs751942463 0.00004
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp) rs759297236 0.00004
NM_001130987.2(DYSF):c.3696G>A (p.Pro1232=) rs139364929 0.00004
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met) rs202013788 0.00004
NM_001130987.2(DYSF):c.3870C>T (p.Ala1290=) rs778341042 0.00004
NM_001130987.2(DYSF):c.397C>T (p.Leu133=) rs886043009 0.00004
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) rs768354800 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val) rs754979997 0.00004
NM_001130987.2(DYSF):c.4481C>T (p.Ser1494Leu) rs370898927 0.00004
NM_001130987.2(DYSF):c.4586A>T (p.Lys1529Met) rs527574888 0.00004
NM_001130987.2(DYSF):c.4590C>T (p.Cys1530=) rs778185705 0.00004
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=) rs369750372 0.00004
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys) rs757240900 0.00004
NM_001130987.2(DYSF):c.5304C>A (p.Ser1768=) rs748704263 0.00004
NM_001130987.2(DYSF):c.5451C>T (p.Ile1817=) rs727503913 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp) rs200921075 0.00004
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628 0.00004
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=) rs549673939 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.906G>A (p.Leu302=) rs916319528 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys) rs776921154 0.00004
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=) rs778686949 0.00003
NM_001130987.2(DYSF):c.1276+51A>G rs562890665 0.00003
NM_001130987.2(DYSF):c.1299C>T (p.Asn433=) rs757047049 0.00003
NM_001130987.2(DYSF):c.1449+7C>T rs199608017 0.00003
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe) rs765472161 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098 0.00003
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln) rs749488054 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) rs146819460 0.00003
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp) rs749542779 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) rs748951363 0.00003
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe) rs767889531 0.00003
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=) rs751571463 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) rs542176164 0.00003
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe) rs367709130 0.00003
NM_001130987.2(DYSF):c.4473C>T (p.Asp1491=) rs948317553 0.00003
NM_001130987.2(DYSF):c.4503G>A (p.Thr1501=) rs531996668 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001130987.2(DYSF):c.5207G>A (p.Arg1736His) rs777701226 0.00003
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) rs531935195 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp) rs369627849 0.00003
NM_001130987.2(DYSF):c.5558G>A (p.Arg1853His) rs372895279 0.00003
NM_001130987.2(DYSF):c.6203C>A (p.Thr2068Asn) rs1261660052 0.00003
NM_001130987.2(DYSF):c.734T>C (p.Leu245Pro) rs148739795 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001130987.2(DYSF):c.828C>T (p.Thr276=) rs376154300 0.00003
NM_001130987.2(DYSF):c.1000C>T (p.Arg334Trp) rs184771575 0.00002
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly) rs763604611 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1149+4A>G rs761302882 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.1668C>A (p.Pro556=) rs180970066 0.00002
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) rs561875696 0.00002
NM_001130987.2(DYSF):c.1823G>A (p.Arg608His) rs371210248 0.00002
NM_001130987.2(DYSF):c.2070C>T (p.Ile690=) rs746480529 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.2216+6G>C rs747059895 0.00002
NM_001130987.2(DYSF):c.254C>T (p.Ala85Val) rs772008300 0.00002
NM_001130987.2(DYSF):c.2750T>A (p.Leu917His) rs768637531 0.00002
NM_001130987.2(DYSF):c.2772C>T (p.Asp924=) rs772806555 0.00002
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His) rs765601966 0.00002
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) rs747089235 0.00002
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013 0.00002
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) rs754763074 0.00002
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 0.00002
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.3731T>G (p.Val1244Gly) rs750397218 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.4260C>T (p.Thr1420=) rs547886773 0.00002
NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys) rs749028996 0.00002
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358 0.00002
NM_001130987.2(DYSF):c.4322G>A (p.Arg1441His) rs753156321 0.00002
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.4896G>T (p.Lys1632Asn) rs1453872151 0.00002
NM_001130987.2(DYSF):c.5202G>T (p.Gln1734His) rs749455148 0.00002
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714 0.00002
NM_001130987.2(DYSF):c.5402C>T (p.Pro1801Leu) rs371189093 0.00002
NM_001130987.2(DYSF):c.5452G>A (p.Glu1818Lys) rs764947245 0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968 0.00002
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr) rs1254719758 0.00002
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) rs778611782 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.739G>A (p.Asp247Asn) rs529238728 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.1080C>T (p.Asp360=) rs886044211 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.1167C>G (p.Pro389=) rs886042490 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) rs746610724 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu) rs767800266 0.00001
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter) rs1131691651 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) rs925623903 0.00001
NM_001130987.2(DYSF):c.1321G>A (p.Glu441Lys) rs886043461 0.00001
NM_001130987.2(DYSF):c.135T>C (p.Pro45=) rs886043852 0.00001
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp) rs1131691788 0.00001
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) rs794727119 0.00001
NM_001130987.2(DYSF):c.1494G>A (p.Trp498Ter) rs141400095 0.00001
NM_001130987.2(DYSF):c.1545G>A (p.Ser515=) rs755103680 0.00001
NM_001130987.2(DYSF):c.1577-10T>C rs371967475 0.00001
NM_001130987.2(DYSF):c.1577-1663G>A rs760021808 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.1646A>G (p.Glu549Gly) rs1042441672 0.00001
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser) rs780677692 0.00001
NM_001130987.2(DYSF):c.1692+2T>A rs398123771 0.00001
NM_001130987.2(DYSF):c.1692+7C>T rs775395972 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.1807-13T>C rs756387775 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.1882G>A (p.Ala628Thr) rs886043941 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.1930A>G (p.Met644Val) rs773859302 0.00001
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) rs1299723799 0.00001
NM_001130987.2(DYSF):c.1985-1G>T rs2091139939 0.00001
NM_001130987.2(DYSF):c.2010G>A (p.Trp670Ter) rs794727343 0.00001
NM_001130987.2(DYSF):c.2153G>A (p.Cys718Tyr) rs886042275 0.00001
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=) rs373820597 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) rs372475742 0.00001
NM_001130987.2(DYSF):c.239+8G>A rs980565746 0.00001
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=) rs757613811 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=) rs762226707 0.00001
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu) rs121908956 0.00001
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys) rs754179180 0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088 0.00001
NM_001130987.2(DYSF):c.2487C>T (p.Ala829=) rs1199331931 0.00001
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) rs759412160 0.00001
NM_001130987.2(DYSF):c.2657A>G (p.Asn886Ser) rs559305759 0.00001
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln) rs370745710 0.00001
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=) rs398123775 0.00001
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) rs770997582 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.2888G>C (p.Gly963Ala) rs764369624 0.00001
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter) rs398123776 0.00001
NM_001130987.2(DYSF):c.2958G>A (p.Met986Ile) rs893875655 0.00001
NM_001130987.2(DYSF):c.2983G>A (p.Gly995Arg) rs778427145 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn) rs200943384 0.00001
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) rs750834799 0.00001
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3202C>G (p.Leu1068Val) rs781120136 0.00001
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619 0.00001
NM_001130987.2(DYSF):c.3326G>A (p.Arg1109His) rs752424049 0.00001
NM_001130987.2(DYSF):c.3338G>A (p.Arg1113His) rs917688073 0.00001
NM_001130987.2(DYSF):c.3365C>T (p.Thr1122Met) rs1000486931 0.00001
NM_001130987.2(DYSF):c.3368G>A (p.Gly1123Glu) rs148489131 0.00001
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672 0.00001
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487 0.00001
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile) rs770648429 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.3550G>T (p.Ala1184Ser) rs369341163 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) rs143393575 0.00001
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe) rs1392863221 0.00001
NM_001130987.2(DYSF):c.3729G>T (p.Val1243=) rs1553375366 0.00001
NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=) rs375160101 0.00001
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln) rs747606668 0.00001
NM_001130987.2(DYSF):c.3766G>A (p.Glu1256Lys) rs1291667876 0.00001
NM_001130987.2(DYSF):c.3793C>T (p.Pro1265Ser) rs1169519723 0.00001
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp) rs753817458 0.00001
NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter) rs1553376538 0.00001
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His) rs774779883 0.00001
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) rs763674597 0.00001
NM_001130987.2(DYSF):c.3883A>C (p.Ile1295Leu) rs555343068 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4060-7T>A rs753614306 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447 0.00001
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=) rs566381009 0.00001
NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp) rs368601323 0.00001
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=) rs774464702 0.00001
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys) rs536906283 0.00001
NM_001130987.2(DYSF):c.4222-8C>T rs772066982 0.00001
NM_001130987.2(DYSF):c.424C>G (p.Pro142Ala) rs1419483491 0.00001
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254 0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856 0.00001
NM_001130987.2(DYSF):c.4450C>A (p.Leu1484Ile) rs375465887 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4465-8A>G rs772118450 0.00001
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862 0.00001
NM_001130987.2(DYSF):c.460+9C>A rs1052225757 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.4637C>T (p.Thr1546Ile) rs781670260 0.00001
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser) rs1463145288 0.00001
NM_001130987.2(DYSF):c.4755+8C>T rs1278005040 0.00001
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.4911+1G>T rs777216777 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5044C>T (p.Leu1682=) rs747062865 0.00001
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) rs886042492 0.00001
NM_001130987.2(DYSF):c.5107G>A (p.Val1703Ile) rs747210644 0.00001
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter) rs1476505138 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809 0.00001
NM_001130987.2(DYSF):c.5311G>C (p.Glu1771Gln) rs762398889 0.00001
NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=) rs140812535 0.00001
NM_001130987.2(DYSF):c.5403G>A (p.Pro1801=) rs771738959 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=) rs763198861 0.00001
NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser) rs753632964 0.00001
NM_001130987.2(DYSF):c.5458-1G>A rs886042879 0.00001
NM_001130987.2(DYSF):c.5458-2A>C rs398123792 0.00001
NM_001130987.2(DYSF):c.5458-5C>T rs780391061 0.00001
NM_001130987.2(DYSF):c.5481C>A (p.Asp1827Glu) rs794727690 0.00001
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914 0.00001
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283 0.00001
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln) rs533781748 0.00001
NM_001130987.2(DYSF):c.553G>A (p.Asp185Asn) rs754784694 0.00001
NM_001130987.2(DYSF):c.5585T>A (p.Val1862Glu) rs886043339 0.00001
NM_001130987.2(DYSF):c.5594A>G (p.Asp1865Gly) rs773950181 0.00001
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys) rs201592500 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=) rs780923865 0.00001
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser) rs543664648 0.00001
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter) rs398123795 0.00001
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys) rs763104746 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5831G>A (p.Arg1944Gln) rs886043057 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs) rs886042318 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001130987.2(DYSF):c.616C>T (p.Leu206=) rs780606842 0.00001
NM_001130987.2(DYSF):c.6174-8G>A rs777167646 0.00001
NM_001130987.2(DYSF):c.6218C>A (p.Thr2073Asn) rs771663815 0.00001
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788 0.00001
NM_001130987.2(DYSF):c.6242G>A (p.Arg2081His) rs927657254 0.00001
NM_001130987.2(DYSF):c.6249G>T (p.Arg2083=) rs886042758 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.713C>T (p.Ala238Val) rs749901429 0.00001
NM_001130987.2(DYSF):c.722C>T (p.Ser241Phe) rs754343148 0.00001
NM_001130987.2(DYSF):c.731T>C (p.Leu244Pro) rs1559048753 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.857T>G (p.Ile286Ser) rs375448108 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_001130987.2(DYSF):c.938C>T (p.Pro313Leu) rs886043967 0.00001
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro) rs398123808 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val) rs1057524492 0.00001
GRCh37/hg19 2p13.2(chr2:71755428-71755531)x0
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.*107T>G rs11903223
NM_001130987.2(DYSF):c.1001G>A (p.Arg334Gln)
NM_001130987.2(DYSF):c.1002+1G>C
NM_001130987.2(DYSF):c.1002G>A (p.Arg334=)
NM_001130987.2(DYSF):c.1006_1007delinsAT (p.Asp336Ile) rs886043469
NM_001130987.2(DYSF):c.1033+22C>T rs77595657
NM_001130987.2(DYSF):c.1033+2T>C rs886042617
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1033+5G>A
NM_001130987.2(DYSF):c.1034-27A>G rs114703564
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=) rs1553525671
NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser) rs2152742210
NM_001130987.2(DYSF):c.1063C>T (p.Leu355Phe) rs886044387
NM_001130987.2(DYSF):c.106A>T (p.Thr36Ser)
NM_001130987.2(DYSF):c.1093_1094del (p.Ala365fs) rs1553525756
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
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.1135G>A (p.Gly379Arg)
NM_001130987.2(DYSF):c.1149+1G>C rs398123763
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.114C>A (p.Val38=) rs963586500
NM_001130987.2(DYSF):c.1160A>G (p.Lys387Arg) rs886043914
NM_001130987.2(DYSF):c.1167C>T (p.Pro389=) rs886042490
NM_001130987.2(DYSF):c.1167del (p.Ser390fs) rs886044355
NM_001130987.2(DYSF):c.1192del (p.Ser398fs) rs2087887269
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=) rs781380886
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr) rs1559079525
NM_001130987.2(DYSF):c.1233_1239dup (p.Cys414fs) rs2152748641
NM_001130987.2(DYSF):c.1235A>T (p.His412Leu)
NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.1256G>C (p.Arg419Pro) rs776036392
NM_001130987.2(DYSF):c.1256G>T (p.Arg419Leu)
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1260del (p.Glu421fs) rs1559079887
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1276A>C (p.Met426Leu)
NM_001130987.2(DYSF):c.1280A>C (p.Asp427Ala) rs1553531687
NM_001130987.2(DYSF):c.128T>G (p.Val43Gly)
NM_001130987.2(DYSF):c.1307A>G (p.Gln436Arg) rs1209127665
NM_001130987.2(DYSF):c.1330A>T (p.Lys444Ter) rs2152751290
NM_001130987.2(DYSF):c.1332G>T (p.Lys444Asn) rs886043169
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del) rs1553531818
NM_001130987.2(DYSF):c.1333A>G (p.Lys445Glu)
NM_001130987.2(DYSF):c.1343T>C (p.Val448Ala)
NM_001130987.2(DYSF):c.1346A>G (p.Asp449Gly) rs1553531854
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1371G>C (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg) rs886042093
NM_001130987.2(DYSF):c.1388G>T (p.Ser463Ile) rs1553535807
NM_001130987.2(DYSF):c.1413C>A (p.Asn471Lys) rs398123766
NM_001130987.2(DYSF):c.1450-3_1450-2del rs886043328
NM_001130987.2(DYSF):c.1450-6C>T rs757776087
NM_001130987.2(DYSF):c.1454C>T (p.Pro485Leu) rs1573810761
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATCCATCCATTCATCCAT rs1553508732
NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATCCATTCATCCAT rs1553508732
NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATTCATCCAT rs1553508732
NM_001130987.2(DYSF):c.148-183ATCC[10] rs56102566
NM_001130987.2(DYSF):c.148-183ATCC[11] rs56102566
NM_001130987.2(DYSF):c.148-183ATCC[9] rs56102566
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1493+1G>C rs1553536007
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001130987.2(DYSF):c.1493+5G>A rs553207755
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter) rs1559100639
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1494-2A>G rs398123769
NM_001130987.2(DYSF):c.1496A>G (p.Asp499Gly) rs886044185
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1529_1530del (p.Thr510fs) rs2152766936
NM_001130987.2(DYSF):c.1530del (p.Tyr511fs) rs786205632
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs) rs774402454
NM_001130987.2(DYSF):c.1544C>G (p.Ser515Trp)
NM_001130987.2(DYSF):c.1576+1G>A rs886044258
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu) rs886044537
NM_001130987.2(DYSF):c.1577-1471T>A rs78761467
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-1G>A rs189923208
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532fs) rs1573928936
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1687G>C (p.Gly563Arg) rs1176279921
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.1716C>T (p.Gly572=) rs1559138079
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009
NM_001130987.2(DYSF):c.1788T>A (p.Asp596Glu)
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.179del (p.Leu60fs) rs2152682705
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1827G>C (p.Lys609Asn)
NM_001130987.2(DYSF):c.1852T>C (p.Ser618Pro) rs2152790710
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
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.1917G>C (p.Gly639=)
NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr) rs886043196
NM_001130987.2(DYSF):c.1927G>A (p.Asp643Asn)
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1954A>G (p.Thr652Ala)
NM_001130987.2(DYSF):c.1965C>G (p.Tyr655Ter) rs759841019
NM_001130987.2(DYSF):c.1976_1984+3dup rs1573943846
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.1985-46G>C rs202063541
NM_001130987.2(DYSF):c.1985G>A (p.Gly662Glu) rs886042863
NM_001130987.2(DYSF):c.1993TAC[2] (p.Tyr667del)
NM_001130987.2(DYSF):c.2016C>G (p.Asn672Lys)
NM_001130987.2(DYSF):c.2088del (p.Ile699fs) rs886044390
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2096T>C (p.Ile699Thr) rs886043230
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2103C>G (p.Asp701Glu) rs886044378
NM_001130987.2(DYSF):c.2109+101AC[2] rs5832058
NM_001130987.2(DYSF):c.2114C>A (p.Ala705Asp)
NM_001130987.2(DYSF):c.2131del (p.His711fs)
NM_001130987.2(DYSF):c.2133C>T (p.His711=) rs1243434554
NM_001130987.2(DYSF):c.2142G>T (p.Leu714=)
NM_001130987.2(DYSF):c.2149C>T (p.Gln717Ter) rs1320536163
NM_001130987.2(DYSF):c.2174C>G (p.Ser725Trp) rs376571932
NM_001130987.2(DYSF):c.2216+9dup rs760948624
NM_001130987.2(DYSF):c.2216G>C (p.Ser739Thr) rs143304754
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.224C>T (p.Thr75Met) rs767340310
NM_001130987.2(DYSF):c.2300G>A (p.Ser767Asn)
NM_001130987.2(DYSF):c.2302C>T (p.Gln768Ter) rs1027145211
NM_001130987.2(DYSF):c.2304A>G (p.Gln768=)
NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter) rs886043901
NM_001130987.2(DYSF):c.2351del (p.Pro784fs)
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter) rs1559162681
NM_001130987.2(DYSF):c.2386C>A (p.Arg796Ser)
NM_001130987.2(DYSF):c.239+14A>T
NM_001130987.2(DYSF):c.240-5C>T rs1559021086
NM_001130987.2(DYSF):c.240-6T>A rs896011451
NM_001130987.2(DYSF):c.2406_2409+1del rs398123774
NM_001130987.2(DYSF):c.2411C>A (p.Pro804His) rs768226528
NM_001130987.2(DYSF):c.2414A>G (p.Gln805Arg)
NM_001130987.2(DYSF):c.2420G>C (p.Ser807Thr) rs886043898
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs) rs752479889
NM_001130987.2(DYSF):c.2435T>A (p.Val812Asp)
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) rs146819460
NM_001130987.2(DYSF):c.2485G>T (p.Ala829Ser) rs562925562
NM_001130987.2(DYSF):c.2514T>G (p.Gly838=) rs772432464
NM_001130987.2(DYSF):c.2519A>C (p.Asn840Thr)
NM_001130987.2(DYSF):c.2523C>G (p.Tyr841Ter) rs2091950553
NM_001130987.2(DYSF):c.2526T>C (p.Cys842=)
NM_001130987.2(DYSF):c.254C>A (p.Ala85Asp) rs772008300
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs) rs755849745
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2615T>G (p.Val872Gly) rs1574041904
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=) rs530181166
NM_001130987.2(DYSF):c.2677C>A (p.Leu893Met)
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2692G>A (p.Glu898Lys) rs886043846
NM_001130987.2(DYSF):c.2702A>C (p.Glu901Ala) rs2152811264
NM_001130987.2(DYSF):c.2707G>C (p.Glu903Gln)
NM_001130987.2(DYSF):c.2707G>T (p.Glu903Ter) rs770997582
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) rs2092226553
NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)
NM_001130987.2(DYSF):c.2780G>T (p.Gly927Val) rs1553553778
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) rs759171890
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup) rs1172863089
NM_001130987.2(DYSF):c.2826G>A (p.Trp942Ter) rs1553553888
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)
NM_001130987.2(DYSF):c.2831G>A (p.Trp944Ter) rs2152811441
NM_001130987.2(DYSF):c.2833G>A (p.Ala945Thr) rs886043185
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2844G>T (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2857_2859del (p.Glu953del)
NM_001130987.2(DYSF):c.2864+241del rs372984442
NM_001130987.2(DYSF):c.2864+241dup rs372984442
NM_001130987.2(DYSF):c.2864+2T>A rs1553553943
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2866C>G (p.Leu956Val) rs777421461
NM_001130987.2(DYSF):c.2892C>T (p.His964=) rs886044637
NM_001130987.2(DYSF):c.2902G>A (p.Val968Met)
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs) rs2092323164
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs) rs398123777
NM_001130987.2(DYSF):c.2926A>G (p.Thr976Ala) rs886044026
NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro) rs752689148
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001130987.2(DYSF):c.2948G>A (p.Trp983Ter) rs1268594965
NM_001130987.2(DYSF):c.2962G>A (p.Asp988Asn)
NM_001130987.2(DYSF):c.298G>A (p.Ala100Thr)
NM_001130987.2(DYSF):c.300del (p.Ser101fs)
NM_001130987.2(DYSF):c.3010A>G (p.Ile1004Val) rs1559183642
NM_001130987.2(DYSF):c.3020C>T (p.Pro1007Leu)
NM_001130987.2(DYSF):c.3034T>A (p.Trp1012Arg)
NM_001130987.2(DYSF):c.3049T>C (p.Trp1017Arg) rs886044098
NM_001130987.2(DYSF):c.3051G>A (p.Trp1017Ter)
NM_001130987.2(DYSF):c.3052T>C (p.Ser1018Pro) rs886042550
NM_001130987.2(DYSF):c.3066C>G (p.Asn1022Lys)
NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)
NM_001130987.2(DYSF):c.3080A>T (p.Glu1027Val) rs886044474
NM_001130987.2(DYSF):c.3085+1G>A rs1553555585
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3085+3G>A
NM_001130987.2(DYSF):c.3085G>A (p.Gly1029Ser)
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.311C>T (p.Ala104Val) rs767981823
NM_001130987.2(DYSF):c.3134G>A (p.Trp1045Ter) rs142289638
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) rs770883682
NM_001130987.2(DYSF):c.3164_3169del (p.His1055_Arg1056del) rs1559185944
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3170G>T (p.Arg1057Leu)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3203_3204del (p.Leu1068fs) rs1260279185
NM_001130987.2(DYSF):c.3208C>A (p.Gln1070Lys)
NM_001130987.2(DYSF):c.3212T>G (p.Met1071Arg)
NM_001130987.2(DYSF):c.3228+161_3228+182dup rs1265903256
NM_001130987.2(DYSF):c.3228+202_3228+245del rs1183404242
NM_001130987.2(DYSF):c.3228+205_3228+226del rs1483899538
NM_001130987.2(DYSF):c.3228+296_3228+297insCACACCCAGCACACAGAT rs1370441318
NM_001130987.2(DYSF):c.3228+297_3228+318del rs532288855
NM_001130987.2(DYSF):c.3229-5T>C rs794727532
NM_001130987.2(DYSF):c.3229-61G>A rs57041989
NM_001130987.2(DYSF):c.3229-61G>C rs57041989
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3245C>T (p.Ala1082Val)
NM_001130987.2(DYSF):c.3257G>T (p.Gly1086Val) rs753826832
NM_001130987.2(DYSF):c.3275T>C (p.Leu1092Pro)
NM_001130987.2(DYSF):c.3279T>C (p.Phe1093=)
NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter) rs794727534
NM_001130987.2(DYSF):c.3285G>C (p.Trp1095Cys) rs886043890
NM_001130987.2(DYSF):c.3285G>T (p.Trp1095Cys)
NM_001130987.2(DYSF):c.3297C>A (p.Leu1099=) rs144936357
NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His) rs369345918
NM_001130987.2(DYSF):c.3305G>T (p.Arg1102Leu)
NM_001130987.2(DYSF):c.3315T>G (p.Asp1105Glu) rs886043916
NM_001130987.2(DYSF):c.3332G>A (p.Arg1111His)
NM_001130987.2(DYSF):c.3337C>G (p.Arg1113Gly) rs141536854
NM_001130987.2(DYSF):c.3346A>G (p.Met1116Val)
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter) rs1558513494
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.3397G>A (p.Ala1133Thr)
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) rs202000264
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3440C>T (p.Ser1147Phe)
NM_001130987.2(DYSF):c.3444C>T (p.Val1148=) rs1558552487
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr) rs959125009
NM_001130987.2(DYSF):c.3446C>T (p.Ser1149Phe) rs959125009
NM_001130987.2(DYSF):c.3461G>A (p.Gly1154Asp)
NM_001130987.2(DYSF):c.3483del (p.Cys1162fs) rs886042632
NM_001130987.2(DYSF):c.3493G>C (p.Asp1165His) rs761528558
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3518G>A (p.Arg1173His)
NM_001130987.2(DYSF):c.3520T>C (p.Cys1174Arg) rs886044028
NM_001130987.2(DYSF):c.3527T>C (p.Met1176Thr)
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3574+5G>A rs886043276
NM_001130987.2(DYSF):c.3575-3C>A
NM_001130987.2(DYSF):c.3581A>G (p.Tyr1194Cys)
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3589G>A (p.Val1197Ile)
NM_001130987.2(DYSF):c.3589G>T (p.Val1197Phe) rs754075406
NM_001130987.2(DYSF):c.3642C>A (p.Asn1214Lys)
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.3679G>A (p.Glu1227Lys)
NM_001130987.2(DYSF):c.3695del (p.Pro1232fs) rs398123783
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr) rs1553375353
NM_001130987.2(DYSF):c.3757-2A>G rs886043149
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3763G>C (p.Asp1255His) rs1553376431
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs) rs1558583697
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3794C>A (p.Pro1265Gln)
NM_001130987.2(DYSF):c.3806G>A (p.Arg1269Gln)
NM_001130987.2(DYSF):c.3855G>C (p.Ser1285=) rs765136335
NM_001130987.2(DYSF):c.3857G>A (p.Gly1286Glu) rs886043338
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.3863T>C (p.Leu1288Pro) rs886042828
NM_001130987.2(DYSF):c.3863T>G (p.Leu1288Arg) rs886042828
NM_001130987.2(DYSF):c.3875T>C (p.Phe1292Ser)
NM_001130987.2(DYSF):c.388G>T (p.Ala130Ser)
NM_001130987.2(DYSF):c.3897+269C>G rs17007090
NM_001130987.2(DYSF):c.3897+6G>A
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) rs370620594
NM_001130987.2(DYSF):c.3958-13C>G rs1417797236
NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro) rs794727597
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs) rs398123784
NM_001130987.2(DYSF):c.3973C>G (p.Leu1325Val)
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) rs778092738
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His) rs61742872
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4054A>G (p.Ile1352Val)
NM_001130987.2(DYSF):c.4059+1G>A rs1229707459
NM_001130987.2(DYSF):c.4059+28del rs113849164
NM_001130987.2(DYSF):c.4060-40C>T rs2303605
NM_001130987.2(DYSF):c.4093T>G (p.Tyr1365Asp)
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.4111TCC[1] (p.Ser1372del) rs398123785
NM_001130987.2(DYSF):c.4127T>A (p.Val1376Glu)
NM_001130987.2(DYSF):c.4144C>T (p.Gln1382Ter) rs886042095
NM_001130987.2(DYSF):c.4178G>A (p.Arg1393Gln)
NM_001130987.2(DYSF):c.4219G>A (p.Val1407Met)
NM_001130987.2(DYSF):c.4238A>G (p.Glu1413Gly) rs2093790724
NM_001130987.2(DYSF):c.4244A>C (p.Tyr1415Ser) rs775254512
NM_001130987.2(DYSF):c.4247G>A (p.Cys1416Tyr)
NM_001130987.2(DYSF):c.4249C>T (p.Pro1417Ser) rs376134165
NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser) rs151268930
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His) rs138268837
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4273G>A (p.Asp1425Asn)
NM_001130987.2(DYSF):c.4292G>C (p.Arg1431Pro)
NM_001130987.2(DYSF):c.4295G>T (p.Arg1432Leu) rs761337469
NM_001130987.2(DYSF):c.4317dup (p.Ile1440fs) rs1553383144
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.432G>T (p.Pro144=) rs542176164
NM_001130987.2(DYSF):c.4349C>A (p.Pro1450His)
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4354T>G (p.Ser1452Ala)
NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=) rs886043896
NM_001130987.2(DYSF):c.4387+1G>T rs2152877211
NM_001130987.2(DYSF):c.4387+2T>A rs759939755
NM_001130987.2(DYSF):c.4390G>A (p.Asp1464Asn) rs927765259
NM_001130987.2(DYSF):c.441T>C (p.Pro147=) rs1553520415
NM_001130987.2(DYSF):c.4465-283C>T rs114171096
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) rs562261472
NM_001130987.2(DYSF):c.4547G>C (p.Trp1516Ser) rs755781770
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr) rs398123788
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001130987.2(DYSF):c.4592G>C (p.Gly1531Ala)
NM_001130987.2(DYSF):c.45G>A (p.Ala15=) rs972675695
NM_001130987.2(DYSF):c.460+6T>G rs756102619
NM_001130987.2(DYSF):c.460G>C (p.Gly154Arg)
NM_001130987.2(DYSF):c.4614del (p.Phe1538fs) rs886042578
NM_001130987.2(DYSF):c.4619C>A (p.Thr1540Asn) rs200809348
NM_001130987.2(DYSF):c.4627-10T>G
NM_001130987.2(DYSF):c.4627-249CTC[2] rs200480953
NM_001130987.2(DYSF):c.4643T>G (p.Leu1548Arg)
NM_001130987.2(DYSF):c.4651G>A (p.Val1551Met) rs2094766224
NM_001130987.2(DYSF):c.4681T>G (p.Cys1561Gly)
NM_001130987.2(DYSF):c.4755+1G>A
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs) rs1179051248
NM_001130987.2(DYSF):c.4775C>G (p.Pro1592Arg)
NM_001130987.2(DYSF):c.4777C>T (p.Leu1593Phe)
NM_001130987.2(DYSF):c.477G>A (p.Arg159=)
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.4821C>A (p.His1607Gln)
NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter) rs1163488527
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4950A>G (p.Ser1650=)
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.4997T>C (p.Phe1666Ser) rs1553410562
NM_001130987.2(DYSF):c.5003+1055T>A rs139080832
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5003+1375C>G rs3791826
NM_001130987.2(DYSF):c.5003+197C>T rs75750524
NM_001130987.2(DYSF):c.5004-160C>T rs116621672
NM_001130987.2(DYSF):c.5004-1G>A rs886043170
NM_001130987.2(DYSF):c.5011G>T (p.Glu1671Ter) rs398123790
NM_001130987.2(DYSF):c.5056C>T (p.Leu1686Phe)
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643
NM_001130987.2(DYSF):c.5078C>T (p.Ser1693Phe)
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
NM_001130987.2(DYSF):c.5135del (p.Lys1712fs) rs1064797253
NM_001130987.2(DYSF):c.5138T>C (p.Phe1713Ser) rs886044317
NM_001130987.2(DYSF):c.5139T>G (p.Phe1713Leu) rs1305077427
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5144C>A (p.Ala1715Asp) rs761625265
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys) rs771735871
NM_001130987.2(DYSF):c.5147G>T (p.Arg1716Leu) rs138472236
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr) rs753279446
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5171G>C (p.Cys1724Ser)
NM_001130987.2(DYSF):c.5174+1G>A rs886042581
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5174+5G>T rs745891180
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg) rs776452710
NM_001130987.2(DYSF):c.5222T>C (p.Leu1741Pro) rs1553413187
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=) rs1558771751
NM_001130987.2(DYSF):c.5250C>T (p.Val1750=) rs1573061231
NM_001130987.2(DYSF):c.5291A>G (p.Asp1764Gly)
NM_001130987.2(DYSF):c.5306T>C (p.Ile1769Thr) rs886042493
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5317+34C>T rs187779994
NM_001130987.2(DYSF):c.5341C>T (p.His1781Tyr) rs776911222
NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe) rs1558778541
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5438T>A (p.Leu1813Gln)
NM_001130987.2(DYSF):c.5459G>A (p.Gly1820Glu) rs886042341
NM_001130987.2(DYSF):c.5459G>T (p.Gly1820Val)
NM_001130987.2(DYSF):c.5474G>A (p.Trp1825Ter) rs754613733
NM_001130987.2(DYSF):c.5475G>T (p.Trp1825Cys)
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
NM_001130987.2(DYSF):c.5528C>A (p.Thr1843Asn)
NM_001130987.2(DYSF):c.5546+1G>T rs398123793
NM_001130987.2(DYSF):c.5546+20G>A rs747092306
NM_001130987.2(DYSF):c.5546+2T>A rs1553415233
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5547-1G>C rs1573094617
NM_001130987.2(DYSF):c.5560T>C (p.Cys1854Arg) rs1558785198
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter) rs201592500
NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val) rs1553415622
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met) rs886042880
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5643-7T>G rs1553416025
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5687A>G (p.His1896Arg)
NM_001130987.2(DYSF):c.5687A>T (p.His1896Leu) rs199601326
NM_001130987.2(DYSF):c.5693G>A (p.Arg1898His)
NM_001130987.2(DYSF):c.5700G>A (p.Leu1900=)
NM_001130987.2(DYSF):c.5702G>C (p.Gly1901Ala)
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser) rs886044266
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs) rs786205081
NM_001130987.2(DYSF):c.5716T>A (p.Phe1906Ile) rs1558787823
NM_001130987.2(DYSF):c.5722T>C (p.Trp1908Arg) rs2152956607
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5737C>G (p.Pro1913Ala) rs1257277890
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5763del (p.Val1922fs) rs1553416197
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe) rs886044130
NM_001130987.2(DYSF):c.5784+5G>A
NM_001130987.2(DYSF):c.5784+8T>C rs1558788338
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5789C>G (p.Ala1930Gly) rs1346535569
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5831G>C (p.Arg1944Pro)
NM_001130987.2(DYSF):c.5860A>G (p.Lys1954Glu)
NM_001130987.2(DYSF):c.5874T>C (p.Asp1958=) rs750860886
NM_001130987.2(DYSF):c.5885-32A>G
NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=) rs886043955
NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter) rs1553420738
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met) rs536703008
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6002A>T (p.Gln2001Leu)
NM_001130987.2(DYSF):c.6019T>C (p.Trp2007Arg) rs886043194
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6028T>C (p.Cys2010Arg) rs1553420858
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6063+1G>A rs398123798
NM_001130987.2(DYSF):c.6064-1G>C rs886042636
NM_001130987.2(DYSF):c.6065G>A (p.Gly2022Asp) rs886043391
NM_001130987.2(DYSF):c.6080C>T (p.Thr2027Ile) rs886043782
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6139G>T (p.Glu2047Ter) rs886043489
NM_001130987.2(DYSF):c.6148A>G (p.Met2050Val)
NM_001130987.2(DYSF):c.6153C>A (p.Asn2051Lys) rs778053107
NM_001130987.2(DYSF):c.6155C>G (p.Pro2052Arg) rs886044643
NM_001130987.2(DYSF):c.6161T>C (p.Leu2054Pro) rs978055393
NM_001130987.2(DYSF):c.6168C>A (p.Asp2056Glu)
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys) rs886042452
NM_001130987.2(DYSF):c.6173G>T (p.Arg2058Met) rs886042452
NM_001130987.2(DYSF):c.6197G>A (p.Trp2066Ter)
NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=) rs372244975
NM_001130987.2(DYSF):c.6239G>A (p.Arg2080Gln)
NM_001130987.2(DYSF):c.6239G>T (p.Arg2080Leu) rs760119297
NM_001130987.2(DYSF):c.6258del (p.Ile2087fs) rs767150484
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.6274C>G (p.Leu2092Val) rs1177991658
NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val) rs886043805
NM_001130987.2(DYSF):c.631G>A (p.Gly211Ser) rs886044549
NM_001130987.2(DYSF):c.6321+5G>A
NM_001130987.2(DYSF):c.6329del (p.Ala2110fs) rs886042991
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer) rs886043884
NM_001130987.2(DYSF):c.6335T>G (p.Met2112Arg)
NM_001130987.2(DYSF):c.6347A>T (p.Lys2116Met)
NM_001130987.2(DYSF):c.635C>T (p.Pro212Leu)
NM_001130987.2(DYSF):c.670C>T (p.Arg224Cys)
NM_001130987.2(DYSF):c.682dup (p.His228fs) rs886042680
NM_001130987.2(DYSF):c.689_690dup (p.Gly231fs) rs2152731902
NM_001130987.2(DYSF):c.691G>A (p.Gly231Arg)
NM_001130987.2(DYSF):c.701del (p.Arg234fs) rs2152731932
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.720A>G (p.Thr240=) rs886043320
NM_001130987.2(DYSF):c.727A>G (p.Lys243Glu) rs786205525
NM_001130987.2(DYSF):c.754_759+5del rs1433612344
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.759+206G>C rs55816929
NM_001130987.2(DYSF):c.759+246_759+247dup rs5832057
NM_001130987.2(DYSF):c.759+247del rs5832057
NM_001130987.2(DYSF):c.759+247dup rs5832057
NM_001130987.2(DYSF):c.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.766G>A (p.Val256Ile)
NM_001130987.2(DYSF):c.784C>T (p.Arg262Cys)
NM_001130987.2(DYSF):c.795G>A (p.Pro265=) rs751967195
NM_001130987.2(DYSF):c.811C>G (p.Pro271Ala)
NM_001130987.2(DYSF):c.826_836delinsGCCCT (p.Thr276_Gly279delinsAlaLeu) rs398123801
NM_001130987.2(DYSF):c.832G>T (p.Ala278Ser)
NM_001130987.2(DYSF):c.847C>A (p.Arg283=) rs769180834
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp) rs769180834
NM_001130987.2(DYSF):c.860A>C (p.His287Pro) rs398123803
NM_001130987.2(DYSF):c.870C>G (p.Asn290Lys) rs766315212
NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)
NM_001130987.2(DYSF):c.877C>T (p.Leu293Phe) rs398123804
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.888+2T>A rs886042970
NM_001130987.2(DYSF):c.888G>C (p.Glu296Asp) rs398123805
NM_001130987.2(DYSF):c.889-7C>G
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs) rs1553522104
NM_001130987.2(DYSF):c.893T>G (p.Leu298Arg) rs398123806
NM_001130987.2(DYSF):c.92-1G>A rs786205524
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001130987.2(DYSF):c.951+2T>G rs886042590
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_001130987.2(DYSF):c.952-2_952-1del
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.962C>T (p.Ser321Phe) rs776921154
NM_001130987.2(DYSF):c.975_979dup (p.Asp327fs)
NM_001130987.2(DYSF):c.981T>G (p.Asp327Glu)
NM_001130987.2(DYSF):c.989T>G (p.Leu330Arg) rs2152736786
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr) rs539484245
NM_001130987.2(DYSF):c.98A>G (p.Lys33Arg) rs539484245
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001130987.2(DYSF):c.995del (p.Glu332fs) rs886044386
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.-327G>T rs535087290
NM_003494.4(DYSF):c.-7G>A rs1558905040
NM_003494.4(DYSF):c.11T>G (p.Val4Gly)
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003494.4(DYSF):c.1486C>A (p.Pro496Thr) rs368577086
NM_003494.4(DYSF):c.1512A>T (p.Lys504Asn)
NM_003494.4(DYSF):c.1642del rs398123772
NM_003494.4(DYSF):c.1642dup rs398123772
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn) rs1354334539
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter) rs2080944539
NM_003494.4(DYSF):c.33C>G (p.Asn11Lys)
NM_003494.4(DYSF):c.46G>C (p.Asp16His)
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.4(DYSF):c.88+10G>T
NM_003494.4(DYSF):c.88+12437C>T rs6752164
NM_003494.4(DYSF):c.8G>A (p.Arg3Lys) rs886043856

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.