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: 1259
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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.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.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.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.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.-128G>A rs6752632 0.19847
NM_001130987.2(DYSF):c.460+150A>G rs57229705 0.19499
NM_001130987.2(DYSF):c.2864+244G>C rs111459768 0.19156
NM_001130987.2(DYSF):c.4388-246C>T rs58806374 0.18924
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.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.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.6174-297T>C rs11897186 0.11092
NM_001130987.2(DYSF):c.460+222G>A rs59644933 0.11084
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.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.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.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.2216+59G>A rs116203238 0.00791
NM_001130987.2(DYSF):c.1577-1805A>G rs115183182 0.00787
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_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.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.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.2153G>A (p.Cys718Tyr) rs886042275 0.00006
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155 0.00006
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013 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.5315T>C (p.Ile1772Thr) rs866367366 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.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.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.1321G>A (p.Glu441Lys) rs886043461 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.2216+6G>C rs747059895 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.269G>A (p.Arg90Gln) rs370745710 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 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.3538C>T (p.Arg1180Trp) rs759297236 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.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.713C>T (p.Ala238Val) rs749901429 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.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.254C>T (p.Ala85Val) rs772008300 0.00002
NM_001130987.2(DYSF):c.2750T>A (p.Leu917His) rs768637531 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.3176G>A (p.Arg1059His) rs754763074 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.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.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.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.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088 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.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.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.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.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.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.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.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.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.2133C>T (p.His711=) rs1243434554
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.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.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.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.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.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.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.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.3958T>C (p.Ser1320Pro) rs794727597
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs) rs398123784
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.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.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.4810A>G (p.Arg1604Gly) rs1558750109
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.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.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.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.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.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+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.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

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