ClinVar Miner

List of variants in gene DYSF

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3998
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.240-6653G>A rs10166384 0.61548
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.-128G>A rs6752632 0.19847
NM_001130987.2(DYSF):c.460+150A>G rs57229705 0.19499
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.4621C>T (p.Leu1541=) rs7573406 0.00792
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.3496+14C>T rs112034381 0.00297
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.429C>T (p.Ser143=) rs115390288 0.00161
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_003494.4(DYSF):c.-44C>T rs199569685 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.2484C>T (p.Pro828=) rs143667543 0.00073
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.1150-20G>A rs186036570 0.00070
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.4560C>T (p.Phe1520=) rs544993852 0.00048
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.2698-11T>C rs368482435 0.00041
NM_001130987.2(DYSF):c.5318-14T>A rs373692062 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.3408C>T (p.Gly1136=) rs146498307 0.00031
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr) rs146213322 0.00030
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001130987.2(DYSF):c.*78C>T rs367543759 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.*75C>T rs374833260 0.00026
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.1450-15C>T rs376442287 0.00018
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.*142G>A rs774156078 0.00016
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.2589C>T (p.Gly863=) rs551942312 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.460+13C>T rs913978542 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.308A>G (p.Asn103Ser) rs201834175 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.1002+18A>G rs112286757 0.00011
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.409C>T (p.Pro137Ser) rs761301098 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.*179G>A rs886056284 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.1276+14G>A rs368724695 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.92-3T>C rs367833503 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1065C>G (p.Leu355=) rs143370670 0.00009
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578 0.00009
NM_001130987.2(DYSF):c.1632T>C (p.Tyr544=) rs1296743118 0.00009
NM_001130987.2(DYSF):c.1692+13G>C rs368874059 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr) rs562925562 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.2883C>T (p.Asp961=) rs143775913 0.00009
NM_001130987.2(DYSF):c.3086-19C>A rs199596218 0.00009
NM_001130987.2(DYSF):c.3229-6G>C rs201993768 0.00009
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=) rs201477760 0.00009
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser) rs753922932 0.00009
NM_001130987.2(DYSF):c.3402+11C>G rs780844859 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.1985-16C>T rs377533029 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.4059+11C>T rs759874787 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_003494.4(DYSF):c.-239C>G rs956974768 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.239+15G>C rs376711978 0.00007
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3366G>A (p.Thr1122=) rs149986783 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.3579C>T (p.Pro1193=) rs1340277369 0.00007
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) rs371816429 0.00007
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala) rs753176482 0.00007
NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys) rs143355224 0.00006
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 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.2860A>G (p.Lys954Glu) rs1038837599 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.3340C>T (p.Arg1114Cys) rs148171293 0.00006
NM_001130987.2(DYSF):c.3614A>G (p.Lys1205Arg) rs757123788 0.00006
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=) rs781758050 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.5147G>A (p.Arg1716His) rs138472236 0.00006
NM_001130987.2(DYSF):c.5315T>C (p.Ile1772Thr) rs866367366 0.00006
NM_001130987.2(DYSF):c.5448C>T (p.Asp1816=) rs760654351 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.2427G>A (p.Pro809=) rs139422989 0.00005
NM_001130987.2(DYSF):c.2679G>C (p.Leu893=) rs907000231 0.00005
NM_001130987.2(DYSF):c.2973C>T (p.Thr991=) rs373937234 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.3496+15G>A rs200173633 0.00005
NM_001130987.2(DYSF):c.3717G>A (p.Pro1239=) rs150444588 0.00005
NM_001130987.2(DYSF):c.405G>A (p.Pro135=) rs973059586 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 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.4970A>G (p.Tyr1657Cys) rs759505768 0.00005
NM_001130987.2(DYSF):c.5547-4C>T rs373098428 0.00005
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) rs773799968 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.6234G>A (p.Leu2078=) rs376588911 0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851 0.00005
NM_001130987.2(DYSF):c.885T>G (p.Asn295Lys) rs201550600 0.00005
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258 0.00004
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 0.00004
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=) rs779669549 0.00004
NM_001130987.2(DYSF):c.1458C>T (p.Ser486=) rs200803090 0.00004
NM_001130987.2(DYSF):c.1476G>A (p.Arg492=) rs768604446 0.00004
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=) rs374809515 0.00004
NM_001130987.2(DYSF):c.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.1965C>T (p.Tyr655=) rs759841019 0.00004
NM_001130987.2(DYSF):c.1969C>T (p.Arg657Cys) rs752848496 0.00004
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=) rs574076669 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 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.2166C>T (p.Asp722=) rs766639423 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.2316T>C (p.Ala772=) rs141314294 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.3000C>A (p.Pro1000=) rs368460619 0.00004
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met) rs768787171 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001130987.2(DYSF):c.3126G>A (p.Pro1042=) rs377235191 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.3171G>A (p.Arg1057=) rs200311551 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.3240G>A (p.Ala1080=) rs759829047 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.345+12T>G rs769394497 0.00004
NM_001130987.2(DYSF):c.3460G>A (p.Gly1154Ser) rs554800123 0.00004
NM_001130987.2(DYSF):c.3499G>A (p.Gly1167Arg) rs751942463 0.00004
NM_001130987.2(DYSF):c.3696G>A (p.Pro1232=) rs139364929 0.00004
NM_001130987.2(DYSF):c.3757-11G>A rs375151143 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.4059+7C>T rs562567295 0.00004
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) rs773542731 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.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.5184G>A (p.Pro1728=) rs750640522 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.5884+7G>A rs578068243 0.00004
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=) rs375483537 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.6342G>A (p.Leu2114=) rs766435391 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_003494.4(DYSF):c.-278G>C rs1477070599 0.00004
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=) rs778686949 0.00003
NM_001130987.2(DYSF):c.1146G>A (p.Ala382=) rs749288662 0.00003
NM_001130987.2(DYSF):c.126C>T (p.Ser42=) rs369755508 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.1450-20C>T rs762342962 0.00003
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) rs886056280 0.00003
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe) rs765472161 0.00003
NM_001130987.2(DYSF):c.1577-1646C>T rs763227235 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.1749G>A (p.Val583=) rs758674748 0.00003
NM_001130987.2(DYSF):c.1752G>A (p.Glu584=) rs778125491 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.239+17G>C rs757432005 0.00003
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys) rs377196032 0.00003
NM_001130987.2(DYSF):c.240-7C>T rs746083673 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.3013G>C (p.Glu1005Gln) rs763925689 0.00003
NM_001130987.2(DYSF):c.3165C>T (p.His1055=) rs745672090 0.00003
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln) rs149617331 0.00003
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 0.00003
NM_001130987.2(DYSF):c.3397G>T (p.Ala1133Ser) rs200334333 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.3575-11G>A rs370058694 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.3899C>T (p.Pro1300Leu) rs767190885 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.413C>T (p.Thr138Ile) rs766841136 0.00003
NM_001130987.2(DYSF):c.4242C>T (p.Leu1414=) rs952978128 0.00003
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His) rs758688467 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.4388-8C>T rs746630105 0.00003
NM_001130987.2(DYSF):c.4419C>T (p.Asp1473=) rs374705038 0.00003
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe) rs367709130 0.00003
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=) rs371231895 0.00003
NM_001130987.2(DYSF):c.4470A>C (p.Ala1490=) rs546061624 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.4755+10C>T rs139099979 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001130987.2(DYSF):c.5003+8G>T rs954327151 0.00003
NM_001130987.2(DYSF):c.5085C>T (p.Asp1695=) rs375326769 0.00003
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys) rs758206608 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.558A>G (p.Thr186=) rs781732915 0.00003
NM_001130987.2(DYSF):c.5643-12A>G rs375507062 0.00003
NM_001130987.2(DYSF):c.5682C>T (p.Asp1894=) rs780040380 0.00003
NM_001130987.2(DYSF):c.5946C>G (p.Ser1982=) rs140341988 0.00003
NM_001130987.2(DYSF):c.6070C>T (p.Leu2024=) rs775417000 0.00003
NM_001130987.2(DYSF):c.6203C>A (p.Thr2068Asn) rs1261660052 0.00003
NM_001130987.2(DYSF):c.6276C>T (p.Leu2092=) rs1412512408 0.00003
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=) rs139267208 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.790C>T (p.Leu264=) rs374682091 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.889-6C>T rs370223980 0.00003
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala) rs368577086 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.1077T>C (p.Asp359=) rs761584106 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.1258dup (p.Ala420fs) rs779969348 0.00002
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu) rs1268717670 0.00002
NM_001130987.2(DYSF):c.1380+20G>A rs889139495 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.1577-7C>T rs767566865 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.1718G>A (p.Arg573Gln) rs755829878 0.00002
NM_001130987.2(DYSF):c.1806+10G>A rs757667944 0.00002
NM_001130987.2(DYSF):c.1806+7G>A rs758951311 0.00002
NM_001130987.2(DYSF):c.1823G>A (p.Arg608His) rs371210248 0.00002
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile) rs767805308 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2070C>T (p.Ile690=) rs746480529 0.00002
NM_001130987.2(DYSF):c.2134C>T (p.Leu712=) rs985675157 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys) rs369209261 0.00002
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His) rs759015457 0.00002
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=) rs773468156 0.00002
NM_001130987.2(DYSF):c.247G>A (p.Gly83Arg) rs780227798 0.00002
NM_001130987.2(DYSF):c.249G>C (p.Gly83=) rs550993602 0.00002
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) rs199543257 0.00002
NM_001130987.2(DYSF):c.254C>T (p.Ala85Val) rs772008300 0.00002
NM_001130987.2(DYSF):c.2571G>A (p.Pro857=) rs200494473 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.2786T>A (p.Ile929Asn) rs766900434 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.2847C>T (p.Phe949=) rs146006518 0.00002
NM_001130987.2(DYSF):c.2864+7C>T rs770354145 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.2930G>A (p.Arg977Gln) rs752689148 0.00002
NM_001130987.2(DYSF):c.2979+16_2979+17del rs761855675 0.00002
NM_001130987.2(DYSF):c.3024G>A (p.Leu1008=) rs1553555439 0.00002
NM_001130987.2(DYSF):c.3053C>T (p.Ser1018Phe) rs748720895 0.00002
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu) rs770593405 0.00002
NM_001130987.2(DYSF):c.3141T>G (p.Pro1047=) rs780246050 0.00002
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) rs754763074 0.00002
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val) rs766204227 0.00002
NM_001130987.2(DYSF):c.3229-18G>A rs1365278928 0.00002
NM_001130987.2(DYSF):c.3246G>A (p.Ala1082=) rs764414374 0.00002
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=) rs945602962 0.00002
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930 0.00002
NM_001130987.2(DYSF):c.3356T>A (p.Leu1119Gln) rs776495155 0.00002
NM_001130987.2(DYSF):c.3402+19G>A rs1026555167 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.3434C>A (p.Ser1145Tyr) rs755517171 0.00002
NM_001130987.2(DYSF):c.3441C>T (p.Ser1147=) rs779624098 0.00002
NM_001130987.2(DYSF):c.3497-20T>C rs1394263273 0.00002
NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys) rs372297758 0.00002
NM_001130987.2(DYSF):c.358C>T (p.Leu120=) rs892412351 0.00002
NM_001130987.2(DYSF):c.3690C>T (p.Gly1230=) rs766754391 0.00002
NM_001130987.2(DYSF):c.3731T>G (p.Val1244Gly) rs750397218 0.00002
NM_001130987.2(DYSF):c.3757-17C>T rs757864395 0.00002
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr) rs556134001 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) rs772742658 0.00002
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) rs201966225 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.4212C>T (p.Phe1404=) rs555086420 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.4323C>T (p.Arg1441=) rs758538165 0.00002
NM_001130987.2(DYSF):c.4528-6A>G rs775423013 0.00002
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.4755+19C>G rs368894620 0.00002
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996 0.00002
NM_001130987.2(DYSF):c.4896G>T (p.Lys1632Asn) rs1453872151 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln) rs748528655 0.00002
NM_001130987.2(DYSF):c.5071C>G (p.Leu1691Val) rs762970438 0.00002
NM_001130987.2(DYSF):c.5175-6C>T rs1258841250 0.00002
NM_001130987.2(DYSF):c.5175-7T>C rs764665728 0.00002
NM_001130987.2(DYSF):c.5202G>T (p.Gln1734His) rs749455148 0.00002
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=) rs762447573 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714 0.00002
NM_001130987.2(DYSF):c.5298A>G (p.Glu1766=) rs769272706 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.5546+11C>T rs772485165 0.00002
NM_001130987.2(DYSF):c.5642+14G>A rs377398673 0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968 0.00002
NM_001130987.2(DYSF):c.5784+9C>A rs753986968 0.00002
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) rs772521748 0.00002
NM_001130987.2(DYSF):c.5906A>C (p.Asn1969Thr) rs775578484 0.00002
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr) rs1254719758 0.00002
NM_001130987.2(DYSF):c.6058C>T (p.Leu2020=) rs760685520 0.00002
NM_001130987.2(DYSF):c.6173+4A>C rs749127704 0.00002
NM_001130987.2(DYSF):c.6174-12T>G rs760257417 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.6254C>A (p.Ala2085Asp) rs1271141178 0.00002
NM_001130987.2(DYSF):c.6322-10C>G rs755660226 0.00002
NM_001130987.2(DYSF):c.671G>A (p.Arg224His) rs373032113 0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) rs528386282 0.00002
NM_001130987.2(DYSF):c.739G>A (p.Asp247Asn) rs529238728 0.00002
NM_001130987.2(DYSF):c.759+10G>A rs200198865 0.00002
NM_001130987.2(DYSF):c.774G>A (p.Val258=) rs201797348 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001130987.2(DYSF):c.798G>A (p.Gly266=) rs138466537 0.00002
NM_001130987.2(DYSF):c.846G>A (p.Lys282=) rs1176128443 0.00002
NM_001130987.2(DYSF):c.1003-10T>C rs752397079 0.00001
NM_001130987.2(DYSF):c.1003-11A>G rs975482363 0.00001
NM_001130987.2(DYSF):c.1003-17C>T rs372843257 0.00001
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1060C>T (p.Leu354=) rs369378511 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1067C>T (p.Ser356Leu) rs1289536335 0.00001
NM_001130987.2(DYSF):c.1080C>T (p.Asp360=) rs886044211 0.00001
NM_001130987.2(DYSF):c.1116C>T (p.Ser372=) rs766891289 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.114C>T (p.Val38=) rs963586500 0.00001
NM_001130987.2(DYSF):c.1150-21C>T rs532850915 0.00001
NM_001130987.2(DYSF):c.1155G>A (p.Glu385=) rs1400006082 0.00001
NM_001130987.2(DYSF):c.1167C>G (p.Pro389=) rs886042490 0.00001
NM_001130987.2(DYSF):c.1183G>A (p.Asp395Asn) rs1333857093 0.00001
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.121A>T (p.Asn41Tyr) rs911341473 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.1248G>C (p.Lys416Asn) rs745409058 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1269G>A (p.Leu423=) rs774859639 0.00001
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu) rs767800266 0.00001
NM_001130987.2(DYSF):c.1272G>A (p.Pro424=) rs544769503 0.00001
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter) rs1131691651 0.00001
NM_001130987.2(DYSF):c.1276+10G>A rs994622254 0.00001
NM_001130987.2(DYSF):c.1276+13C>T rs373530549 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1276+9G>C rs897697260 0.00001
NM_001130987.2(DYSF):c.1277-4C>G rs760860539 0.00001
NM_001130987.2(DYSF):c.1282G>A (p.Asp428Asn) rs762842080 0.00001
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) rs925623903 0.00001
NM_001130987.2(DYSF):c.1347C>T (p.Asp449=) rs1044542269 0.00001
NM_001130987.2(DYSF):c.135T>C (p.Pro45=) rs886043852 0.00001
NM_001130987.2(DYSF):c.1381-20C>T rs776806053 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.1449+11T>C rs548993658 0.00001
NM_001130987.2(DYSF):c.1480C>T (p.Arg494Cys) rs1192937487 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1494-4C>G rs377488411 0.00001
NM_001130987.2(DYSF):c.1494G>A (p.Trp498Ter) rs141400095 0.00001
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) rs775370021 0.00001
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870 0.00001
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met) rs761279290 0.00001
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu) rs139258703 0.00001
NM_001130987.2(DYSF):c.1545G>A (p.Ser515=) rs755103680 0.00001
NM_001130987.2(DYSF):c.1576+16G>A rs577128387 0.00001
NM_001130987.2(DYSF):c.1576+18T>C rs768373625 0.00001
NM_001130987.2(DYSF):c.1576+7T>A rs200990459 0.00001
NM_001130987.2(DYSF):c.1577-10T>C rs371967475 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.1577-1663G>A rs760021808 0.00001
NM_001130987.2(DYSF):c.1577-1698G>A rs754787004 0.00001
NM_001130987.2(DYSF):c.1577-4C>T rs1206902174 0.00001
NM_001130987.2(DYSF):c.1599C>G (p.Leu533=) rs765133641 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser) rs559177313 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.1666C>A (p.Pro556Thr) rs749866053 0.00001
NM_001130987.2(DYSF):c.1674A>G (p.Thr558=) rs147101870 0.00001
NM_001130987.2(DYSF):c.1686A>G (p.Thr562=) rs1178474903 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.1692+8G>A rs549810799 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1693-9C>T rs1447501012 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.1820G>A (p.Arg607Lys) rs776487688 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.1857C>A (p.Ala619=) rs2091067615 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.1896G>A (p.Glu632=) rs1360936643 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.191C>T (p.Ser64Phe) rs1224444546 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 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.1984+9G>A rs1375749923 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.2040A>G (p.Ser680=) rs1285165000 0.00001
NM_001130987.2(DYSF):c.2076T>A (p.Thr692=) rs907221996 0.00001
NM_001130987.2(DYSF):c.2086C>T (p.Leu696=) rs781763520 0.00001
NM_001130987.2(DYSF):c.2110-11C>G rs780520305 0.00001
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter) rs756258757 0.00001
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=) rs762651388 0.00001
NM_001130987.2(DYSF):c.216C>T (p.Asp72=) rs1397538150 0.00001
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=) rs373820597 0.00001
NM_001130987.2(DYSF):c.2193G>A (p.Thr731=) rs754423332 0.00001
NM_001130987.2(DYSF):c.2202C>T (p.Leu734=) rs1304800163 0.00001
NM_001130987.2(DYSF):c.2206G>A (p.Ala736Thr) rs1042263359 0.00001
NM_001130987.2(DYSF):c.2217-12C>T rs201786433 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.2337C>T (p.Gly779=) rs1266538564 0.00001
NM_001130987.2(DYSF):c.2382C>T (p.Leu794=) rs376262937 0.00001
NM_001130987.2(DYSF):c.239+5G>T rs556416924 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.2507G>A (p.Arg836Gln) rs754431230 0.00001
NM_001130987.2(DYSF):c.2544G>A (p.Lys848=) rs776934303 0.00001
NM_001130987.2(DYSF):c.2566-10T>C rs1312909300 0.00001
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) rs759412160 0.00001
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu) rs146153109 0.00001
NM_001130987.2(DYSF):c.2657A>G (p.Asn886Ser) rs559305759 0.00001
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=) rs750999022 0.00001
NM_001130987.2(DYSF):c.2698-2A>G rs1420930684 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.2716T>C (p.Leu906=) rs2092223294 0.00001
NM_001130987.2(DYSF):c.2747G>A (p.Gly916Asp) rs749094860 0.00001
NM_001130987.2(DYSF):c.2754C>T (p.Thr918=) rs2092225592 0.00001
NM_001130987.2(DYSF):c.2757C>T (p.Tyr919=) rs200439327 0.00001
NM_001130987.2(DYSF):c.2809C>T (p.Arg937Cys) rs755270902 0.00001
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) rs535323489 0.00001
NM_001130987.2(DYSF):c.2864+10G>A rs1338085640 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.2886C>T (p.Ala962=) rs776035565 0.00001
NM_001130987.2(DYSF):c.2888G>C (p.Gly963Ala) rs764369624 0.00001
NM_001130987.2(DYSF):c.2901C>T (p.Phe967=) rs767589708 0.00001
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter) rs398123776 0.00001
NM_001130987.2(DYSF):c.2946G>A (p.Gln982=) rs770460209 0.00001
NM_001130987.2(DYSF):c.2958G>A (p.Met986Ile) rs893875655 0.00001
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) rs763710844 0.00001
NM_001130987.2(DYSF):c.2980-14G>A rs374508907 0.00001
NM_001130987.2(DYSF):c.2983G>A (p.Gly995Arg) rs778427145 0.00001
NM_001130987.2(DYSF):c.2994G>A (p.Val998=) rs921273781 0.00001
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly) rs1574058921 0.00001
NM_001130987.2(DYSF):c.3011T>C (p.Ile1004Thr) rs1257868987 0.00001
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys) rs755791637 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.3060C>T (p.Asp1020=) rs779224176 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.3069G>A (p.Arg1023=) rs771258366 0.00001
NM_001130987.2(DYSF):c.3075C>T (p.Val1025=) rs776969552 0.00001
NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn) rs200943384 0.00001
NM_001130987.2(DYSF):c.3086-3C>A rs781636911 0.00001
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) rs750834799 0.00001
NM_001130987.2(DYSF):c.3138C>G (p.Val1046=) rs756490689 0.00001
NM_001130987.2(DYSF):c.315C>T (p.Pro105=) rs1203731908 0.00001
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.3163C>T (p.His1055Tyr) rs776491058 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.3228+8A>C rs749135257 0.00001
NM_001130987.2(DYSF):c.3229-4G>A rs778918599 0.00001
NM_001130987.2(DYSF):c.3231C>T (p.His1077=) rs772568748 0.00001
NM_001130987.2(DYSF):c.3268G>A (p.Ala1090Thr) rs34660230 0.00001
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly) rs1486623448 0.00001
NM_001130987.2(DYSF):c.3318C>G (p.Ala1106=) rs753777255 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.3387C>G (p.Ala1129=) rs773406325 0.00001
NM_001130987.2(DYSF):c.3403-5T>C rs748560095 0.00001
NM_001130987.2(DYSF):c.3403-8G>C rs779448304 0.00001
NM_001130987.2(DYSF):c.3405C>T (p.Gly1135=) rs367845844 0.00001
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672 0.00001
NM_001130987.2(DYSF):c.3449C>T (p.Thr1150Ile) rs772573340 0.00001
NM_001130987.2(DYSF):c.345+8C>T rs780906230 0.00001
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487 0.00001
NM_001130987.2(DYSF):c.346-16G>A rs576372858 0.00001
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368 0.00001
NM_001130987.2(DYSF):c.3492C>T (p.Phe1164=) rs377407750 0.00001
NM_001130987.2(DYSF):c.3496+1G>A rs1486303961 0.00001
NM_001130987.2(DYSF):c.3497-13T>C rs759062827 0.00001
NM_001130987.2(DYSF):c.351G>A (p.Ser117=) rs559097090 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.3544C>T (p.Leu1182=) rs1414071240 0.00001
NM_001130987.2(DYSF):c.354G>T (p.Leu118=) rs1440131340 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.3577C>T (p.Pro1193Ser) rs916964397 0.00001
NM_001130987.2(DYSF):c.3633C>T (p.Asn1211=) rs745656518 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001130987.2(DYSF):c.3660G>A (p.Thr1220=) rs139897804 0.00001
NM_001130987.2(DYSF):c.3663C>T (p.Leu1221=) rs748966868 0.00001
NM_001130987.2(DYSF):c.3669C>T (p.Phe1223=) rs1352496725 0.00001
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) rs143393575 0.00001
NM_001130987.2(DYSF):c.3680A>T (p.Glu1227Val) rs760974476 0.00001
NM_001130987.2(DYSF):c.3702A>G (p.Thr1234=) rs2093465610 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.3757-10C>T rs907822658 0.00001
NM_001130987.2(DYSF):c.3766G>A (p.Glu1256Lys) rs1291667876 0.00001
NM_001130987.2(DYSF):c.3788G>A (p.Cys1263Tyr) rs1417696397 0.00001
NM_001130987.2(DYSF):c.3793C>T (p.Pro1265Ser) rs1169519723 0.00001
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161 0.00001
NM_001130987.2(DYSF):c.3795G>A (p.Pro1265=) rs922788254 0.00001
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp) rs753817458 0.00001
NM_001130987.2(DYSF):c.3807G>T (p.Arg1269=) rs553948190 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.3906C>A (p.Ile1302=) rs754355332 0.00001
NM_001130987.2(DYSF):c.3909C>T (p.His1303=) rs765904804 0.00001
NM_001130987.2(DYSF):c.3981C>T (p.Tyr1327=) rs745549938 0.00001
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu) rs1185353979 0.00001
NM_001130987.2(DYSF):c.3986C>A (p.Pro1329Gln) rs769615039 0.00001
NM_001130987.2(DYSF):c.4033C>T (p.Pro1345Ser) rs1253155257 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4059+8G>A rs770831705 0.00001
NM_001130987.2(DYSF):c.4060-5C>T rs754635537 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.4146G>A (p.Gln1382=) rs1456392109 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.4150G>T (p.Val1384Leu) rs1404000468 0.00001
NM_001130987.2(DYSF):c.4155G>A (p.Gln1385=) rs781656007 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.4221+10A>G rs1448201474 0.00001
NM_001130987.2(DYSF):c.4221+11C>T rs1306793523 0.00001
NM_001130987.2(DYSF):c.4221+7C>T rs765049772 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.4302G>C (p.Val1434=) rs560018212 0.00001
NM_001130987.2(DYSF):c.4329G>C (p.Leu1443=) rs1290365271 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4350C>G (p.Pro1450=) rs897596810 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.435T>G (p.Thr145=) rs1305158929 0.00001
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser) rs151109021 0.00001
NM_001130987.2(DYSF):c.4387+2T>C rs759939755 0.00001
NM_001130987.2(DYSF):c.4450C>A (p.Leu1484Ile) rs375465887 0.00001
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met) rs758226677 0.00001
NM_001130987.2(DYSF):c.4458C>G (p.Pro1486=) rs777688424 0.00001
NM_001130987.2(DYSF):c.445C>T (p.Leu149=) rs1339045360 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4464+18C>T rs1346300032 0.00001
NM_001130987.2(DYSF):c.4464+8G>A rs745311207 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.4540A>G (p.Ile1514Val) rs767309227 0.00001
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val) rs779344280 0.00001
NM_001130987.2(DYSF):c.458C>T (p.Ala153Val) rs764206720 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 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.4644G>A (p.Leu1548=) rs750871731 0.00001
NM_001130987.2(DYSF):c.4671G>A (p.Leu1557=) rs749333686 0.00001
NM_001130987.2(DYSF):c.4696C>T (p.Leu1566=) rs1227092922 0.00001
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser) rs1463145288 0.00001
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=) rs775026383 0.00001
NM_001130987.2(DYSF):c.4734A>G (p.Pro1578=) rs1168024300 0.00001
NM_001130987.2(DYSF):c.4755+8C>T rs1278005040 0.00001
NM_001130987.2(DYSF):c.4797C>T (p.Ile1599=) rs551195286 0.00001
NM_001130987.2(DYSF):c.4806C>T (p.Pro1602=) rs774070544 0.00001
NM_001130987.2(DYSF):c.4825C>G (p.Leu1609Val) rs2094827861 0.00001
NM_001130987.2(DYSF):c.4842C>T (p.Pro1614=) rs766968114 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.4889A>G (p.Gln1630Arg) rs754829594 0.00001
NM_001130987.2(DYSF):c.4911+1G>T rs777216777 0.00001
NM_001130987.2(DYSF):c.4917T>C (p.Asp1639=) rs780604882 0.00001
NM_001130987.2(DYSF):c.4923C>T (p.Tyr1641=) rs376679461 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.4992C>T (p.Pro1664=) rs369004367 0.00001
NM_001130987.2(DYSF):c.5028G>A (p.Leu1676=) rs368302435 0.00001
NM_001130987.2(DYSF):c.5037G>A (p.Glu1679=) rs1383288665 0.00001
NM_001130987.2(DYSF):c.5044C>T (p.Leu1682=) rs747062865 0.00001
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) rs2094956948 0.00001
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) rs886042492 0.00001
NM_001130987.2(DYSF):c.5063A>G (p.Asp1688Gly) rs1449452722 0.00001
NM_001130987.2(DYSF):c.5069A>T (p.Asp1690Val) rs776897492 0.00001
NM_001130987.2(DYSF):c.5070C>T (p.Asp1690=) rs1382607412 0.00001
NM_001130987.2(DYSF):c.5097T>A (p.Gly1699=) rs779293276 0.00001
NM_001130987.2(DYSF):c.5103G>A (p.Thr1701=) rs758713393 0.00001
NM_001130987.2(DYSF):c.5106C>T (p.Val1702=) rs778238756 0.00001
NM_001130987.2(DYSF):c.5107G>A (p.Val1703Ile) rs747210644 0.00001
NM_001130987.2(DYSF):c.5109C>T (p.Val1703=) rs771336218 0.00001
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn) rs781415745 0.00001
NM_001130987.2(DYSF):c.5154A>G (p.Gly1718=) rs1210820177 0.00001
NM_001130987.2(DYSF):c.5174+4C>G rs781575037 0.00001
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) rs146153532 0.00001
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter) rs1476505138 0.00001
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) rs779987458 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5208C>T (p.Arg1736=) rs752860060 0.00001
NM_001130987.2(DYSF):c.5211C>G (p.Pro1737=) rs1442864455 0.00001
NM_001130987.2(DYSF):c.5226C>T (p.His1742=) rs997793741 0.00001
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=) rs1573061003 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809 0.00001
NM_001130987.2(DYSF):c.5311G>C (p.Glu1771Gln) rs762398889 0.00001
NM_001130987.2(DYSF):c.5317+6C>G rs1289453214 0.00001
NM_001130987.2(DYSF):c.5318-7G>C rs760909506 0.00001
NM_001130987.2(DYSF):c.5318-8T>C rs773795577 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.5409C>T (p.His1803=) rs375787986 0.00001
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met) rs773089790 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.5433C>T (p.Ser1811=) rs200879908 0.00001
NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser) rs753632964 0.00001
NM_001130987.2(DYSF):c.5454G>A (p.Glu1818=) rs2095036831 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.5490G>A (p.Pro1830=) rs759536240 0.00001
NM_001130987.2(DYSF):c.5513C>T (p.Pro1838Leu) rs761575935 0.00001
NM_001130987.2(DYSF):c.5526C>T (p.Ile1842=) rs375696757 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.554-8C>T rs1257627361 0.00001
NM_001130987.2(DYSF):c.5556G>A (p.Leu1852=) rs2095071509 0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461 0.00001
NM_001130987.2(DYSF):c.5585T>A (p.Val1862Glu) rs886043339 0.00001
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro) rs768704227 0.00001
NM_001130987.2(DYSF):c.5594A>G (p.Asp1865Gly) rs773950181 0.00001
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe) rs1486691301 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.5630T>C (p.Ile1877Thr) rs191052325 0.00001
NM_001130987.2(DYSF):c.5642+13C>T rs745964080 0.00001
NM_001130987.2(DYSF):c.5683G>A (p.Val1895Met) rs758389756 0.00001
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His) rs777543798 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.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5793C>T (p.Phe1931=) rs757197206 0.00001
NM_001130987.2(DYSF):c.5829A>G (p.Ala1943=) rs748766120 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.5838G>A (p.Val1946=) rs780912992 0.00001
NM_001130987.2(DYSF):c.583C>G (p.Gln195Glu) rs768872906 0.00001
NM_001130987.2(DYSF):c.5855A>G (p.Asn1952Ser) rs747351345 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.2(DYSF):c.588A>G (p.Gly196=) rs141002437 0.00001
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr) rs759198745 0.00001
NM_001130987.2(DYSF):c.5945C>G (p.Ser1982Cys) rs142160134 0.00001
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val) rs1189744662 0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848 0.00001
NM_001130987.2(DYSF):c.6064-8C>G rs375157612 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6082T>C (p.Leu2028=) rs188223743 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.6167A>C (p.Asp2056Ala) rs925176602 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.6176G>A (p.Arg2059His) rs763205852 0.00001
NM_001130987.2(DYSF):c.6179C>T (p.Pro2060Leu) rs764429879 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.6255C>T (p.Ala2085=) rs1308247360 0.00001
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=) rs539234900 0.00001
NM_001130987.2(DYSF):c.6270C>T (p.Ile2090=) rs1231224348 0.00001
NM_001130987.2(DYSF):c.627C>T (p.Ser209=) rs780331854 0.00001
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=) rs561011151 0.00001
NM_001130987.2(DYSF):c.6283C>T (p.Leu2095=) rs201725164 0.00001
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) rs754852745 0.00001
NM_001130987.2(DYSF):c.6309C>T (p.Ile2103=) rs758160528 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.6322-7C>T rs749806665 0.00001
NM_001130987.2(DYSF):c.6332C>T (p.Ala2111Val) rs760938026 0.00001
NM_001130987.2(DYSF):c.636G>A (p.Pro212=) rs185711021 0.00001
NM_001130987.2(DYSF):c.663A>G (p.Leu221=) rs1225760969 0.00001
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu) rs756925596 0.00001
NM_001130987.2(DYSF):c.678G>A (p.Pro226=) rs779321489 0.00001
NM_001130987.2(DYSF):c.682C>A (p.His228Asn) rs146382803 0.00001
NM_001130987.2(DYSF):c.687C>T (p.Tyr229=) rs564416027 0.00001
NM_001130987.2(DYSF):c.693G>A (p.Gly231=) rs775544808 0.00001
NM_001130987.2(DYSF):c.714G>A (p.Ala238=) rs546706280 0.00001
NM_001130987.2(DYSF):c.722C>T (p.Ser241Phe) rs754343148 0.00001
NM_001130987.2(DYSF):c.724A>C (p.Arg242=) rs755541995 0.00001
NM_001130987.2(DYSF):c.731T>C (p.Leu244Pro) rs1559048753 0.00001
NM_001130987.2(DYSF):c.735G>A (p.Leu245=) rs748463150 0.00001
NM_001130987.2(DYSF):c.759+9C>T rs761537567 0.00001
NM_001130987.2(DYSF):c.849G>C (p.Arg283=) rs2086581716 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.888+10A>G rs745505535 0.00001
NM_001130987.2(DYSF):c.888+7G>C rs369722261 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_001130987.2(DYSF):c.930T>C (p.Phe310=) rs2086636021 0.00001
NM_001130987.2(DYSF):c.938C>T (p.Pro313Leu) rs886043967 0.00001
NM_001130987.2(DYSF):c.954G>T (p.Val318=) rs753987509 0.00001
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) rs771325384 0.00001
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro) rs398123808 0.00001
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys) rs1375948337 0.00001
NM_001130987.2(DYSF):c.965G>A (p.Arg322His) rs1386290894 0.00001
NM_001130987.2(DYSF):c.966T>C (p.Arg322=) rs759748502 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780 0.00001
NM_001130987.2(DYSF):c.999C>T (p.Phe333=) rs367878277 0.00001
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val) rs1057524492 0.00001
NM_003494.4(DYSF):c.27C>G (p.Ala9=) rs771520271 0.00001
NM_003494.4(DYSF):c.39C>T (p.His13=) rs1005614411 0.00001
NM_003494.4(DYSF):c.42A>G (p.Thr14=) rs1017462889 0.00001
NM_003494.4(DYSF):c.51C>T (p.Thr17=) rs763030202 0.00001
GRCh37/hg19 2p13.2(chr2:71755428-71755531)x0
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
NC_000002.11:g.(?_71681119)_(71694073_?)del
NC_000002.11:g.(?_71681129)_(71709120_?)dup
NC_000002.11:g.(?_71681129)_(71913622_?)dup
NC_000002.11:g.(?_71693963)_(71744179_?)dup
NC_000002.11:g.(?_71707993)_(71709120_?)del
NC_000002.11:g.(?_71730324)_(71730469_?)del
NC_000002.11:g.(?_71740967)_(71749805_?)del
NC_000002.11:g.(?_71755408)_(71755551_?)dup
NC_000002.11:g.(?_71783085)_(71913729_?)del
NC_000002.11:g.(?_71793585)_(71797846_?)del
NC_000002.11:g.(?_71801318)_(71801511_?)del
NC_000002.11:g.(?_71816713)_(71817428_?)dup
NC_000002.11:g.(?_71827822)_(71827982_?)del
NC_000002.11:g.(?_71838365)_(71840553_?)del
NC_000002.11:g.(?_71900503)_(71913622_?)del
NC_000002.11:g.(?_71913574)_(71913729_?)del
NC_000002.12:g.(?_71480873)_(71481980_?)del
NC_000002.12:g.(?_71511797)_(71539257_?)dup
NC_000002.12:g.(?_71520168)_(71549401_?)dup
NC_000002.12:g.(?_71549340)_(71549401_?)del
NC_000002.12:g.(?_71553001)_(71574381_?)dup
NC_000002.12:g.(?_71567941)_(71570344_?)del
NC_000002.12:g.(?_71679047)_(71679245_?)del
NC_000002.12:g.71480885del
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.*107T>G rs11903223
NM_001130987.2(DYSF):c.*18A>G rs1057521877
NM_001130987.2(DYSF):c.*245T>C rs886056285
NM_001130987.2(DYSF):c.*9C>G rs2095358398
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) rs1573671276
NM_001130987.2(DYSF):c.1001G>A (p.Arg334Gln)
NM_001130987.2(DYSF):c.1002+14T>C
NM_001130987.2(DYSF):c.1002+15T>C rs529992457
NM_001130987.2(DYSF):c.1002+1G>A
NM_001130987.2(DYSF):c.1002+3A>G rs1447141486
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1002+8C>T
NM_001130987.2(DYSF):c.1003-12C>T
NM_001130987.2(DYSF):c.1003-14C>G
NM_001130987.2(DYSF):c.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1003-3C>A rs2087101244
NM_001130987.2(DYSF):c.1003-6T>C rs2152741412
NM_001130987.2(DYSF):c.1006_1007delinsAT (p.Asp336Ile) rs886043469
NM_001130987.2(DYSF):c.1011G>A (p.Val337=) rs1573697664
NM_001130987.2(DYSF):c.1019T>C (p.Ile340Thr)
NM_001130987.2(DYSF):c.1026A>G (p.Arg342=)
NM_001130987.2(DYSF):c.1027G>A (p.Glu343Lys)
NM_001130987.2(DYSF):c.1027G>C (p.Glu343Gln)
NM_001130987.2(DYSF):c.1033+11dup
NM_001130987.2(DYSF):c.1033+15C>T
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.1034-17G>C
NM_001130987.2(DYSF):c.1034-27A>G rs114703564
NM_001130987.2(DYSF):c.1035G>T (p.Arg345=)
NM_001130987.2(DYSF):c.1037A>C (p.His346Pro) rs2087179153
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=) rs1553525671
NM_001130987.2(DYSF):c.1046T>G (p.Leu349Arg) rs2087180506
NM_001130987.2(DYSF):c.1047C>G (p.Leu349=)
NM_001130987.2(DYSF):c.1047C>T (p.Leu349=)
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser) rs2152742210
NM_001130987.2(DYSF):c.1057C>A (p.Leu353Met) rs752460236
NM_001130987.2(DYSF):c.1057C>T (p.Leu353=) rs752460236
NM_001130987.2(DYSF):c.1063C>A (p.Leu355Ile)
NM_001130987.2(DYSF):c.1063C>T (p.Leu355Phe) rs886044387
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)
NM_001130987.2(DYSF):c.106A>T (p.Thr36Ser)
NM_001130987.2(DYSF):c.1077T>A (p.Asp359Glu) rs761584106
NM_001130987.2(DYSF):c.1089T>C (p.Ala363=) rs2152742250
NM_001130987.2(DYSF):c.108C>A (p.Thr36=)
NM_001130987.2(DYSF):c.108del (p.Val38fs) rs1320173977
NM_001130987.2(DYSF):c.1092G>A (p.Gly364=) rs2152742258
NM_001130987.2(DYSF):c.1093_1094del (p.Ala365fs) rs1553525756
NM_001130987.2(DYSF):c.109A>G (p.Lys37Glu) rs2082828360
NM_001130987.2(DYSF):c.1102T>C (p.Tyr368His)
NM_001130987.2(DYSF):c.1104_1105del (p.Leu369fs)
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1111A>G (p.Thr371Ala)
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.1117del (p.Leu373fs) rs2087187562
NM_001130987.2(DYSF):c.1117dup (p.Leu373fs) rs2087187562
NM_001130987.2(DYSF):c.111A>G (p.Lys37=) rs1316230143
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) rs2152742282
NM_001130987.2(DYSF):c.1128G>A (p.Leu376=)
NM_001130987.2(DYSF):c.1128G>C (p.Leu376=)
NM_001130987.2(DYSF):c.1131G>A (p.Gly377=)
NM_001130987.2(DYSF):c.1135G>A (p.Gly379Arg)
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)
NM_001130987.2(DYSF):c.1146G>C (p.Ala382=) rs749288662
NM_001130987.2(DYSF):c.1146G>T (p.Ala382=)
NM_001130987.2(DYSF):c.1149+10T>A
NM_001130987.2(DYSF):c.1149+16T>C
NM_001130987.2(DYSF):c.1149+17G>A
NM_001130987.2(DYSF):c.1149+19del
NM_001130987.2(DYSF):c.1149+1G>C rs398123763
NM_001130987.2(DYSF):c.1149+3G>C rs1573704236
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.1149+7A>T rs771741504
NM_001130987.2(DYSF):c.1149+9A>G rs1573704374
NM_001130987.2(DYSF):c.114C>A (p.Val38=) rs963586500
NM_001130987.2(DYSF):c.1150-20G>C
NM_001130987.2(DYSF):c.1150-42_1155del rs1573743003
NM_001130987.2(DYSF):c.1150-43_1155delinsA rs1573743003
NM_001130987.2(DYSF):c.1150-5T>G
NM_001130987.2(DYSF):c.1150C>G (p.Leu384Val) rs759896755
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
NM_001130987.2(DYSF):c.1160A>G (p.Lys387Arg) rs886043914
NM_001130987.2(DYSF):c.1165C>T (p.Pro389Ser)
NM_001130987.2(DYSF):c.1167C>T (p.Pro389=) rs886042490
NM_001130987.2(DYSF):c.1167del (p.Ser390fs) rs886044355
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
NM_001130987.2(DYSF):c.1185C>T (p.Asp395=) rs2152748548
NM_001130987.2(DYSF):c.1187T>C (p.Ile396Thr)
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) rs2082829594
NM_001130987.2(DYSF):c.1192del (p.Ser398fs) rs2087887269
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys) rs781380886
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=) rs781380886
NM_001130987.2(DYSF):c.1200G>C (p.Leu400=) rs764593587
NM_001130987.2(DYSF):c.1203C>T (p.Leu401=)
NM_001130987.2(DYSF):c.1204C>G (p.Arg402Gly)
NM_001130987.2(DYSF):c.1204C>T (p.Arg402Trp)
NM_001130987.2(DYSF):c.120G>A (p.Lys40=) rs2082829925
NM_001130987.2(DYSF):c.1210A>G (p.Thr404Ala)
NM_001130987.2(DYSF):c.1212_1236del (p.Gly405fs) rs2152748581
NM_001130987.2(DYSF):c.1213_1250del (p.Gly405fs) rs1474253061
NM_001130987.2(DYSF):c.1215C>A (p.Gly405=)
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1216G>A (p.Val406Ile)
NM_001130987.2(DYSF):c.1216_1219dup (p.Ala407fs)
NM_001130987.2(DYSF):c.1218A>T (p.Val406=)
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr) rs1559079525
NM_001130987.2(DYSF):c.1220C>T (p.Ala407Val) rs2087892446
NM_001130987.2(DYSF):c.1221C>T (p.Ala407=) rs932501116
NM_001130987.2(DYSF):c.1224G>A (p.Leu408=) rs2152748611
NM_001130987.2(DYSF):c.1224G>T (p.Leu408=)
NM_001130987.2(DYSF):c.1226G>A (p.Arg409Gln)
NM_001130987.2(DYSF):c.1226G>T (p.Arg409Leu) rs1224332034
NM_001130987.2(DYSF):c.1227A>G (p.Arg409=) rs915460671
NM_001130987.2(DYSF):c.1233C>T (p.Ala411=)
NM_001130987.2(DYSF):c.1233_1239dup (p.Cys414fs) rs2152748641
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
NM_001130987.2(DYSF):c.1235A>T (p.His412Leu)
NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)
NM_001130987.2(DYSF):c.1243C>T (p.Leu415=) rs2152748650
NM_001130987.2(DYSF):c.1251C>G (p.Val417=)
NM_001130987.2(DYSF):c.1251C>T (p.Val417=) rs2152748659
NM_001130987.2(DYSF):c.1252T>C (p.Phe418Leu)
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.1259_1261dup (p.Ala420dup) rs2152748674
NM_001130987.2(DYSF):c.1260C>A (p.Ala420=) rs764542175
NM_001130987.2(DYSF):c.1260C>G (p.Ala420=) rs764542175
NM_001130987.2(DYSF):c.1260C>T (p.Ala420=) rs764542175
NM_001130987.2(DYSF):c.1260del (p.Glu421fs) rs1559079887
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)
NM_001130987.2(DYSF):c.1261G>T (p.Glu421Ter)
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.1264_1276+1dup
NM_001130987.2(DYSF):c.1266C>T (p.Asp422=)
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) rs2087900330
NM_001130987.2(DYSF):c.1270C>A (p.Pro424Thr)
NM_001130987.2(DYSF):c.1271C>G (p.Pro424Arg) rs767800266
NM_001130987.2(DYSF):c.1271del (p.Pro424fs) rs2152748702
NM_001130987.2(DYSF):c.1272_1276+3dup
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1276+12G>A rs906028906
NM_001130987.2(DYSF):c.1276+12G>T
NM_001130987.2(DYSF):c.1276+15C>T
NM_001130987.2(DYSF):c.1276+18T>C
NM_001130987.2(DYSF):c.1276+1G>C
NM_001130987.2(DYSF):c.1276+2T>A
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1276+9G>A rs897697260
NM_001130987.2(DYSF):c.1276A>C (p.Met426Leu)
NM_001130987.2(DYSF):c.1276_1276+3del
NM_001130987.2(DYSF):c.1276_1276+7del rs2152748721
NM_001130987.2(DYSF):c.1277-14G>A
NM_001130987.2(DYSF):c.1277-17del
NM_001130987.2(DYSF):c.1277-18G>C
NM_001130987.2(DYSF):c.1277-20T>C
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1280A>C (p.Asp427Ala) rs1553531687
NM_001130987.2(DYSF):c.1284T>C (p.Asp428=)
NM_001130987.2(DYSF):c.128T>G (p.Val43Gly)
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
NM_001130987.2(DYSF):c.1290G>A (p.Val430=)
NM_001130987.2(DYSF):c.1290G>T (p.Val430=)
NM_001130987.2(DYSF):c.1291A>G (p.Met431Val)
NM_001130987.2(DYSF):c.129G>A (p.Val43=) rs2152680557
NM_001130987.2(DYSF):c.1305A>G (p.Lys435=) rs2152751254
NM_001130987.2(DYSF):c.1307A>G (p.Gln436Arg) rs1209127665
NM_001130987.2(DYSF):c.1308G>C (p.Gln436His)
NM_001130987.2(DYSF):c.1308_1309del (p.Gln436fs)
NM_001130987.2(DYSF):c.1314T>C (p.Phe438=) rs762255707
NM_001130987.2(DYSF):c.1317C>A (p.Gly439=) rs1267921215
NM_001130987.2(DYSF):c.131A>C (p.Asn44Thr) rs1478546068
NM_001130987.2(DYSF):c.1329C>T (p.Asn443=) rs143355224
NM_001130987.2(DYSF):c.132C>T (p.Asn44=)
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.1338C>T (p.Asn446=)
NM_001130987.2(DYSF):c.1341G>T (p.Leu447Phe) rs1553531841
NM_001130987.2(DYSF):c.1343T>C (p.Val448Ala)
NM_001130987.2(DYSF):c.1346A>G (p.Asp449Gly) rs1553531854
NM_001130987.2(DYSF):c.134C>T (p.Pro45Leu) rs773503180
NM_001130987.2(DYSF):c.1350C>G (p.Pro450=)
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1356_1357delinsTC (p.Glu453Gln) rs2152751320
NM_001130987.2(DYSF):c.1359G>A (p.Glu453=) rs2152751330
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.1374G>T (p.Gly458=) rs771092045
NM_001130987.2(DYSF):c.1374dup (p.Lys459fs)
NM_001130987.2(DYSF):c.1379T>C (p.Met460Thr)
NM_001130987.2(DYSF):c.1380+12G>T
NM_001130987.2(DYSF):c.1380+1G>C rs2152751353
NM_001130987.2(DYSF):c.1380+8G>A
NM_001130987.2(DYSF):c.1380+8G>T
NM_001130987.2(DYSF):c.1380+9C>G
NM_001130987.2(DYSF):c.1380+9C>T rs1573760922
NM_001130987.2(DYSF):c.1380G>A (p.Met460Ile)
NM_001130987.2(DYSF):c.1381-10T>A
NM_001130987.2(DYSF):c.1381-12T>C
NM_001130987.2(DYSF):c.1381-19C>T
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001130987.2(DYSF):c.1381-2del
NM_001130987.2(DYSF):c.1381_1418del (p.Leu461fs) rs2152760967
NM_001130987.2(DYSF):c.1383G>A (p.Leu461=)
NM_001130987.2(DYSF):c.1388G>T (p.Ser463Ile) rs1553535807
NM_001130987.2(DYSF):c.138A>G (p.Val46=)
NM_001130987.2(DYSF):c.1392G>C (p.Lys464Asn)
NM_001130987.2(DYSF):c.1394T>A (p.Ile465Asn) rs2152760978
NM_001130987.2(DYSF):c.1395C>A (p.Ile465=) rs1255740798
NM_001130987.2(DYSF):c.139T>C (p.Trp47Arg) rs2082832384
NM_001130987.2(DYSF):c.1407G>T (p.Thr469=)
NM_001130987.2(DYSF):c.1409C>T (p.Ala470Val)
NM_001130987.2(DYSF):c.1410_1411del (p.Asn471fs)
NM_001130987.2(DYSF):c.1413C>A (p.Asn471Lys) rs398123766
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys) rs398123766
NM_001130987.2(DYSF):c.1417C>T (p.Gln473Ter)
NM_001130987.2(DYSF):c.1419G>A (p.Gln473=) rs2152761012
NM_001130987.2(DYSF):c.1425C>T (p.Asn475=) rs2152761017
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs2089169741
NM_001130987.2(DYSF):c.1431C>T (p.Asn477=) rs1461796591
NM_001130987.2(DYSF):c.1432A>G (p.Ile478Val) rs1573808717
NM_001130987.2(DYSF):c.1437A>C (p.Thr479=)
NM_001130987.2(DYSF):c.1438C>T (p.Leu480=)
NM_001130987.2(DYSF):c.1440G>A (p.Leu480=) rs1311070634
NM_001130987.2(DYSF):c.1440G>C (p.Leu480=)
NM_001130987.2(DYSF):c.1443T>C (p.Pro481=) rs2152761051
NM_001130987.2(DYSF):c.1449+11T>G
NM_001130987.2(DYSF):c.1449+15C>G
NM_001130987.2(DYSF):c.1449+16C>G
NM_001130987.2(DYSF):c.1449+19_1449+35del
NM_001130987.2(DYSF):c.1449+1G>A rs1553535902
NM_001130987.2(DYSF):c.1449+7C>A
NM_001130987.2(DYSF):c.1449+7C>G rs199608017
NM_001130987.2(DYSF):c.1449+9C>T rs2089175621
NM_001130987.2(DYSF):c.144T>A (p.Asn48Lys)
NM_001130987.2(DYSF):c.1450-14T>C
NM_001130987.2(DYSF):c.1450-16T>C
NM_001130987.2(DYSF):c.1450-19G>A
NM_001130987.2(DYSF):c.1450-3_1450-2del rs886043328
NM_001130987.2(DYSF):c.1450-6C>T rs757776087
NM_001130987.2(DYSF):c.1450-7T>C rs2089201975
NM_001130987.2(DYSF):c.1454C>T (p.Pro485Leu) rs1573810761
NM_001130987.2(DYSF):c.1461G>A (p.Met487Ile) rs750819109
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1464C>T (p.Cys488=) rs202044973
NM_001130987.2(DYSF):c.147+1G>A rs2082833010
NM_001130987.2(DYSF):c.147+6dup
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1472_1473del (p.Met491fs) rs2152761337
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del) rs2152761340
NM_001130987.2(DYSF):c.1476G>C (p.Arg492Ser)
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.148-17T>G
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.148-1G>A rs2082940446
NM_001130987.2(DYSF):c.148-20C>T
NM_001130987.2(DYSF):c.148-2A>G
NM_001130987.2(DYSF):c.148-7del
NM_001130987.2(DYSF):c.148-9T>C rs779606200
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) rs1573811118
NM_001130987.2(DYSF):c.1491C>T (p.Asp497=)
NM_001130987.2(DYSF):c.1491del (p.Trp498fs)
NM_001130987.2(DYSF):c.1493+11A>G
NM_001130987.2(DYSF):c.1493+14C>T
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
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.1493+7del rs2089209523
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter) rs1559100639
NM_001130987.2(DYSF):c.1494-10C>T
NM_001130987.2(DYSF):c.1494-12C>T
NM_001130987.2(DYSF):c.1494-17C>G
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1494-2A>G rs398123769
NM_001130987.2(DYSF):c.1494-4C>T rs377488411
NM_001130987.2(DYSF):c.1494-7G>A
NM_001130987.2(DYSF):c.1494-9T>G
NM_001130987.2(DYSF):c.1496A>G (p.Asp499Gly) rs886044185
NM_001130987.2(DYSF):c.1501C>T (p.Leu501=)
NM_001130987.2(DYSF):c.1501del (p.Arg500_Leu501insTer) rs2089677596
NM_001130987.2(DYSF):c.1515del (p.Asp505fs)
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.1521G>A (p.Val507=)
NM_001130987.2(DYSF):c.1523C>T (p.Ala508Val)
NM_001130987.2(DYSF):c.1529_1530del (p.Thr510fs) rs2152766936
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
NM_001130987.2(DYSF):c.1530del (p.Tyr511fs) rs786205632
NM_001130987.2(DYSF):c.1533C>T (p.Tyr511=) rs2152766938
NM_001130987.2(DYSF):c.1534C>T (p.Leu512=) rs2152766942
NM_001130987.2(DYSF):c.1536G>A (p.Leu512=)
NM_001130987.2(DYSF):c.1536G>T (p.Leu512=)
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs) rs774402454
NM_001130987.2(DYSF):c.1539T>C (p.Ser513=) rs2152766953
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1544C>G (p.Ser515Trp)
NM_001130987.2(DYSF):c.1553C>T (p.Ser518Phe)
NM_001130987.2(DYSF):c.1556C>T (p.Ala519Val)
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) rs1559109621
NM_001130987.2(DYSF):c.1565G>A (p.Gly522Glu) rs2089683887
NM_001130987.2(DYSF):c.1566A>G (p.Gly522=)
NM_001130987.2(DYSF):c.1567G>T (p.Glu523Ter) rs2089684117
NM_001130987.2(DYSF):c.156A>G (p.Glu52=)
NM_001130987.2(DYSF):c.1576+10C>T rs2152767049
NM_001130987.2(DYSF):c.1576+15C>T
NM_001130987.2(DYSF):c.1576+1G>A rs886044258
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1576+4T>A
NM_001130987.2(DYSF):c.1576+8C>T
NM_001130987.2(DYSF):c.1576+9C>T rs1257070622
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu) rs886044537
NM_001130987.2(DYSF):c.1577-11G>T
NM_001130987.2(DYSF):c.1577-1471T>A rs78761467
NM_001130987.2(DYSF):c.1577-14C>T
NM_001130987.2(DYSF):c.1577-15A>G rs2152786840
NM_001130987.2(DYSF):c.1577-1630G>A
NM_001130987.2(DYSF):c.1577-1633T>A
NM_001130987.2(DYSF):c.1577-1633T>C
NM_001130987.2(DYSF):c.1577-1633T>G
NM_001130987.2(DYSF):c.1577-1635C>T
NM_001130987.2(DYSF):c.1577-1638T>C
NM_001130987.2(DYSF):c.1577-1640T>C
NM_001130987.2(DYSF):c.1577-1642G>A
NM_001130987.2(DYSF):c.1577-1645G>A
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-1698del rs2152783819
NM_001130987.2(DYSF):c.1577-1701T>C rs201701337
NM_001130987.2(DYSF):c.1577-1706T>G
NM_001130987.2(DYSF):c.1577-17C>A
NM_001130987.2(DYSF):c.1577-17C>T
NM_001130987.2(DYSF):c.1577-1G>A rs189923208
NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT
NM_001130987.2(DYSF):c.1577-25T>C rs769185336
NM_001130987.2(DYSF):c.1577-2A>G rs1553542142
NM_001130987.2(DYSF):c.1577-6T>C
NM_001130987.2(DYSF):c.1577-9G>A
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg) rs1553508863
NM_001130987.2(DYSF):c.1587C>T (p.Tyr529=)
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532fs) rs1573928936
NM_001130987.2(DYSF):c.1590G>A (p.Leu530=) rs2090907734
NM_001130987.2(DYSF):c.1595del (p.Phe532fs)
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.1599C>T (p.Leu533=)
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1602C>G (p.Pro534=) rs755709561
NM_001130987.2(DYSF):c.1609G>T (p.Gly537Trp)
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) rs2090909751
NM_001130987.2(DYSF):c.1623C>T (p.Ile541=)
NM_001130987.2(DYSF):c.1625del (p.Asn542fs) rs2152786967
NM_001130987.2(DYSF):c.1629C>A (p.Leu543=) rs2152786985
NM_001130987.2(DYSF):c.162C>T (p.Asp54=) rs755413969
NM_001130987.2(DYSF):c.1631A>G (p.Tyr544Cys) rs767304788
NM_001130987.2(DYSF):c.1632del (p.Leu543_Tyr544insTer)
NM_001130987.2(DYSF):c.1635C>A (p.Gly545=)
NM_001130987.2(DYSF):c.1641C>A (p.Pro547=)
NM_001130987.2(DYSF):c.1650C>T (p.Phe550=)
NM_001130987.2(DYSF):c.1659C>T (p.Phe553=)
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
NM_001130987.2(DYSF):c.1671C>T (p.Tyr557=)
NM_001130987.2(DYSF):c.1674A>C (p.Thr558=)
NM_001130987.2(DYSF):c.1674del (p.Glu559fs)
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.1678C>G (p.Leu560Val)
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1686del (p.Gly563fs)
NM_001130987.2(DYSF):c.1687G>C (p.Gly563Arg) rs1176279921
NM_001130987.2(DYSF):c.168G>A (p.Lys56=)
NM_001130987.2(DYSF):c.1692+13G>A
NM_001130987.2(DYSF):c.1692+15G>A
NM_001130987.2(DYSF):c.1692+16C>T
NM_001130987.2(DYSF):c.1692+1G>A rs1319833991
NM_001130987.2(DYSF):c.1692+1G>C
NM_001130987.2(DYSF):c.1692+20G>C
NM_001130987.2(DYSF):c.1692+9G>C rs2152787133
NM_001130987.2(DYSF):c.1693-11C>A
NM_001130987.2(DYSF):c.1693-11C>T
NM_001130987.2(DYSF):c.1693-12C>T
NM_001130987.2(DYSF):c.1693-17C>G
NM_001130987.2(DYSF):c.1693-17C>T
NM_001130987.2(DYSF):c.1694G>A (p.Gly565Glu)
NM_001130987.2(DYSF):c.1698A>C (p.Glu566Asp) rs1573933468
NM_001130987.2(DYSF):c.1704G>A (p.Val568=) rs2152787950
NM_001130987.2(DYSF):c.170G>A (p.Gly57Asp) rs2152682681
NM_001130987.2(DYSF):c.1710del (p.Arg571fs) rs2090953993
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.1713T>C (p.Arg571=) rs2152787978
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.1728C>T (p.Leu576=)
NM_001130987.2(DYSF):c.1731C>A (p.Ser577=)
NM_001130987.2(DYSF):c.1740C>G (p.Thr580=) rs1206191370
NM_001130987.2(DYSF):c.1744C>T (p.Leu582=)
NM_001130987.2(DYSF):c.1746G>C (p.Leu582=) rs1674092066
NM_001130987.2(DYSF):c.174C>A (p.Ile58=) rs1478264060
NM_001130987.2(DYSF):c.1758T>C (p.Ser586=)
NM_001130987.2(DYSF):c.175C>A (p.Pro59Thr) rs1400538817
NM_001130987.2(DYSF):c.1761A>G (p.Glu587=) rs2152788050
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.1764G>A (p.Gln588=) rs2152788061
NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs) rs1553542773
NM_001130987.2(DYSF):c.176C>G (p.Pro59Arg)
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009
NM_001130987.2(DYSF):c.1775A>G (p.Asp592Gly)
NM_001130987.2(DYSF):c.1776C>T (p.Asp592=)
NM_001130987.2(DYSF):c.1778_1782dup (p.Ala595fs) rs2152788089
NM_001130987.2(DYSF):c.177C>T (p.Pro59=) rs2082943716
NM_001130987.2(DYSF):c.1782T>G (p.Pro594=)
NM_001130987.2(DYSF):c.1788T>A (p.Asp596Glu)
NM_001130987.2(DYSF):c.178del (p.Leu60fs) rs1558967217
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu) rs773168782
NM_001130987.2(DYSF):c.1794C>T (p.Ile598=)
NM_001130987.2(DYSF):c.1797C>T (p.Leu599=) rs2090960824
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln) rs546679270
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.179del (p.Leu60fs) rs2152682705
NM_001130987.2(DYSF):c.1803G>A (p.Val601=) rs562084504
NM_001130987.2(DYSF):c.1806+1G>T
NM_001130987.2(DYSF):c.1806+2T>G rs2090962038
NM_001130987.2(DYSF):c.1806+7G>C rs758951311
NM_001130987.2(DYSF):c.1806+8G>A
NM_001130987.2(DYSF):c.1806+9T>A
NM_001130987.2(DYSF):c.1807-14C>T
NM_001130987.2(DYSF):c.1807-15A>G
NM_001130987.2(DYSF):c.1807-20G>T
NM_001130987.2(DYSF):c.1807-2A>G
NM_001130987.2(DYSF):c.1807-5C>A
NM_001130987.2(DYSF):c.1807-7C>T
NM_001130987.2(DYSF):c.1807-9T>C rs2152790570
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
NM_001130987.2(DYSF):c.1824C>G (p.Arg608=) rs2091064936
NM_001130987.2(DYSF):c.1827G>C (p.Lys609Asn)
NM_001130987.2(DYSF):c.1830C>T (p.Tyr610=) rs2152790652
NM_001130987.2(DYSF):c.1832C>T (p.Ser611Phe)
NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs) rs1559141367
NM_001130987.2(DYSF):c.1840G>A (p.Ala614Thr) rs998546221
NM_001130987.2(DYSF):c.1840G>T (p.Ala614Ser) rs998546221
NM_001130987.2(DYSF):c.1842G>A (p.Ala614=)
NM_001130987.2(DYSF):c.1844C>G (p.Ala615Gly) rs893079344
NM_001130987.2(DYSF):c.1852T>C (p.Ser618Pro) rs2152790710
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
NM_001130987.2(DYSF):c.1860C>A (p.Thr620=)
NM_001130987.2(DYSF):c.1860C>T (p.Thr620=)
NM_001130987.2(DYSF):c.1860del (p.Met621fs) rs2091068134
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1872T>C (p.Asp624=) rs2091069583
NM_001130987.2(DYSF):c.1875G>A (p.Val625=) rs766588008
NM_001130987.2(DYSF):c.1881_1882inv (p.Ala628Thr)
NM_001130987.2(DYSF):c.1883C>G (p.Ala628Gly)
NM_001130987.2(DYSF):c.1890G>A (p.Gln630=) rs2152790814
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1908G>A (p.Gly636=)
NM_001130987.2(DYSF):c.1911C>T (p.Asn637=) rs2091073337
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.1922del (p.Lys641fs) rs1573943246
NM_001130987.2(DYSF):c.1927G>A (p.Asp643Asn)
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) rs121908960
NM_001130987.2(DYSF):c.1938C>T (p.Cys646=) rs1384389868
NM_001130987.2(DYSF):c.1939C>T (p.Leu647=) rs768043804
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) rs2082945195
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1954A>G (p.Thr652Ala)
NM_001130987.2(DYSF):c.1956C>T (p.Thr652=)
NM_001130987.2(DYSF):c.1959T>G (p.Thr653=) rs2152790987
NM_001130987.2(DYSF):c.195G>A (p.Glu65=)
NM_001130987.2(DYSF):c.1962G>A (p.Gln654=)
NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter) rs759841019
NM_001130987.2(DYSF):c.1965C>G (p.Tyr655Ter) rs759841019
NM_001130987.2(DYSF):c.1966A>C (p.Ser656Arg) rs765366281
NM_001130987.2(DYSF):c.1968C>A (p.Ser656Arg) rs2091078877
NM_001130987.2(DYSF):c.1974A>G (p.Ala658=)
NM_001130987.2(DYSF):c.1976_1984+3dup rs1573943846
NM_001130987.2(DYSF):c.1977C>T (p.Val659=)
NM_001130987.2(DYSF):c.1984+14C>T
NM_001130987.2(DYSF):c.1984+19C>T
NM_001130987.2(DYSF):c.1984+2T>A
NM_001130987.2(DYSF):c.1984+2T>C rs2152791033
NM_001130987.2(DYSF):c.1984+8A>T rs2152791044
NM_001130987.2(DYSF):c.1985-15G>A rs146407633
NM_001130987.2(DYSF):c.1985-15G>T rs146407633
NM_001130987.2(DYSF):c.1985-16C>A
NM_001130987.2(DYSF):c.1985-17C>T
NM_001130987.2(DYSF):c.1985-18C>A
NM_001130987.2(DYSF):c.1985-18C>T
NM_001130987.2(DYSF):c.1985-2A>G
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.1985-46G>C rs202063541
NM_001130987.2(DYSF):c.1985-7A>G
NM_001130987.2(DYSF):c.1985-8del
NM_001130987.2(DYSF):c.1985G>A (p.Gly662Glu) rs886042863
NM_001130987.2(DYSF):c.1986G>A (p.Gly662=)
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
NM_001130987.2(DYSF):c.1999T>C (p.Tyr667His)
NM_001130987.2(DYSF):c.2001C>T (p.Tyr667=)
NM_001130987.2(DYSF):c.2002del (p.Leu668fs)
NM_001130987.2(DYSF):c.2005C>T (p.Pro669Ser) rs2091141514
NM_001130987.2(DYSF):c.2007C>G (p.Pro669=) rs1553544209
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) rs2091142154
NM_001130987.2(DYSF):c.2016C>G (p.Asn672Lys)
NM_001130987.2(DYSF):c.201T>C (p.His67=)
NM_001130987.2(DYSF):c.2023C>T (p.Pro675Ser) rs2091143336
NM_001130987.2(DYSF):c.2028G>A (p.Val676=) rs2091143475
NM_001130987.2(DYSF):c.2029G>A (p.Val677Met) rs2091143613
NM_001130987.2(DYSF):c.2031G>A (p.Val677=)
NM_001130987.2(DYSF):c.2037G>A (p.Leu679=)
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) rs2091144091
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2042C>T (p.Ser681Phe)
NM_001130987.2(DYSF):c.2046C>T (p.Tyr682=) rs2152792555
NM_001130987.2(DYSF):c.2052G>A (p.Glu684=)
NM_001130987.2(DYSF):c.2058C>T (p.Ile686=) rs938649493
NM_001130987.2(DYSF):c.2059A>G (p.Ser687Gly) rs113450735
NM_001130987.2(DYSF):c.205G>A (p.Val69Met) rs114986640
NM_001130987.2(DYSF):c.2061C>T (p.Ser687=) rs2152792575
NM_001130987.2(DYSF):c.2064T>C (p.His688=) rs2152792591
NM_001130987.2(DYSF):c.2070C>A (p.Ile690=)
NM_001130987.2(DYSF):c.2070C>G (p.Ile690Met)
NM_001130987.2(DYSF):c.2070del (p.Ile690fs) rs1573949142
NM_001130987.2(DYSF):c.2077C>T (p.Gln693Ter) rs2152792645
NM_001130987.2(DYSF):c.2082C>T (p.Asn694=)
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.2106G>T (p.Arg702=) rs2152792698
NM_001130987.2(DYSF):c.2107C>T (p.Leu703=) rs74423119
NM_001130987.2(DYSF):c.2109+101AC[2] rs5832058
NM_001130987.2(DYSF):c.2109+11A>C
NM_001130987.2(DYSF):c.2109+12C>G
NM_001130987.2(DYSF):c.2109+12C>T
NM_001130987.2(DYSF):c.2109+16C>G
NM_001130987.2(DYSF):c.2109+1G>C rs2152792714
NM_001130987.2(DYSF):c.2110-10C>G
NM_001130987.2(DYSF):c.2110-10C>T
NM_001130987.2(DYSF):c.2110-11C>T
NM_001130987.2(DYSF):c.2110-12C>T
NM_001130987.2(DYSF):c.2110-15C>T
NM_001130987.2(DYSF):c.2110-1G>A
NM_001130987.2(DYSF):c.2110-5C>A
NM_001130987.2(DYSF):c.2110-9A>G
NM_001130987.2(DYSF):c.2114C>A (p.Ala705Asp)
NM_001130987.2(DYSF):c.2116G>A (p.Gly706Ser) rs1262272147
NM_001130987.2(DYSF):c.2131del (p.His711fs)
NM_001130987.2(DYSF):c.2133C>T (p.His711=) rs1243434554
NM_001130987.2(DYSF):c.2135T>G (p.Leu712Arg)
NM_001130987.2(DYSF):c.2136G>A (p.Leu712=)
NM_001130987.2(DYSF):c.2140C>T (p.Leu714=) rs2152796039
NM_001130987.2(DYSF):c.2148G>T (p.Ala716=)
NM_001130987.2(DYSF):c.2149C>T (p.Gln717Ter) rs1320536163
NM_001130987.2(DYSF):c.2151G>A (p.Gln717=)
NM_001130987.2(DYSF):c.2156C>T (p.Ser719Phe) rs1225307062
NM_001130987.2(DYSF):c.2169G>A (p.Val723=)
NM_001130987.2(DYSF):c.2174C>G (p.Ser725Trp) rs376571932
NM_001130987.2(DYSF):c.2178G>C (p.Leu726=)
NM_001130987.2(DYSF):c.2187G>A (p.Gln729=) rs2152796141
NM_001130987.2(DYSF):c.2194G>A (p.Asp732Asn)
NM_001130987.2(DYSF):c.219_220delinsCC (p.Glu74Gln)
NM_001130987.2(DYSF):c.2200_2205delinsGCTCA (p.Leu734fs) rs2091313766
NM_001130987.2(DYSF):c.2211C>G (p.Gly737=)
NM_001130987.2(DYSF):c.2215A>G (p.Ser739Gly) rs1291971992
NM_001130987.2(DYSF):c.2216+10A>T rs1573963862
NM_001130987.2(DYSF):c.2216+11C>A
NM_001130987.2(DYSF):c.2216+13T>G
NM_001130987.2(DYSF):c.2216+16_2216+24del rs2152796251
NM_001130987.2(DYSF):c.2216+17G>A
NM_001130987.2(DYSF):c.2216+19C>G
NM_001130987.2(DYSF):c.2216+20C>G
NM_001130987.2(DYSF):c.2216+5G>A
NM_001130987.2(DYSF):c.2216+7G>A
NM_001130987.2(DYSF):c.2216+8G>A rs2152796229
NM_001130987.2(DYSF):c.2216+9G>A rs1040115070
NM_001130987.2(DYSF):c.2216+9G>T
NM_001130987.2(DYSF):c.2216+9del rs760948624
NM_001130987.2(DYSF):c.2216+9dup rs760948624
NM_001130987.2(DYSF):c.2216G>C (p.Ser739Thr) rs143304754
NM_001130987.2(DYSF):c.2217-15G>C
NM_001130987.2(DYSF):c.2217-15G>T
NM_001130987.2(DYSF):c.2217-17C>G
NM_001130987.2(DYSF):c.2217-19A>G
NM_001130987.2(DYSF):c.2217-1G>A
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.2217-20C>T
NM_001130987.2(DYSF):c.2217-6T>G
NM_001130987.2(DYSF):c.2218C>G (p.Gln740Glu) rs1380192355
NM_001130987.2(DYSF):c.2223T>C (p.Pro741=) rs1574000542
NM_001130987.2(DYSF):c.2224C>T (p.Leu742=)
NM_001130987.2(DYSF):c.2231A>T (p.Asp744Val)
NM_001130987.2(DYSF):c.2232C>T (p.Asp744=) rs2152803824
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
NM_001130987.2(DYSF):c.2237A>G (p.His746Arg)
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
NM_001130987.2(DYSF):c.2241G>A (p.Glu747=)
NM_001130987.2(DYSF):c.2246C>T (p.Pro749Leu) rs2152803841
NM_001130987.2(DYSF):c.2247C>T (p.Pro749=) rs2091788049
NM_001130987.2(DYSF):c.2249C>T (p.Ser750Phe) rs2091788398
NM_001130987.2(DYSF):c.224C>T (p.Thr75Met) rs767340310
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
NM_001130987.2(DYSF):c.225G>T (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr) rs376652699
NM_001130987.2(DYSF):c.2265C>T (p.Asp755=)
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter) rs1172643225
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
NM_001130987.2(DYSF):c.2278C>T (p.Gln760Ter)
NM_001130987.2(DYSF):c.2286C>T (p.Arg762=)
NM_001130987.2(DYSF):c.2289C>T (p.Thr763=)
NM_001130987.2(DYSF):c.2292T>C (p.His764=) rs2152803900
NM_001130987.2(DYSF):c.229G>A (p.Gly77Arg)
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.2310T>C (p.Thr770=) rs2152803913
NM_001130987.2(DYSF):c.2310T>G (p.Thr770=)
NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter)
NM_001130987.2(DYSF):c.231G>A (p.Gly77=) rs1553508988
NM_001130987.2(DYSF):c.2326C>T (p.Leu776=) rs2152803929
NM_001130987.2(DYSF):c.2331G>A (p.Lys777=) rs2152803935
NM_001130987.2(DYSF):c.2334C>G (p.Leu778=)
NM_001130987.2(DYSF):c.2339A>G (p.His780Arg) rs2152803946
NM_001130987.2(DYSF):c.2341A>G (p.Ser781Gly) rs2091794465
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter) rs886043901
NM_001130987.2(DYSF):c.2345A>G (p.Glu782Gly)
NM_001130987.2(DYSF):c.2350C>T (p.Pro784Ser) rs1466276981
NM_001130987.2(DYSF):c.2351del (p.Pro784fs)
NM_001130987.2(DYSF):c.2358T>C (p.Ala786=) rs1574001503
NM_001130987.2(DYSF):c.2361G>A (p.Leu787=)
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.2365_2409del45 (p.Gln789_Glu803del)
NM_001130987.2(DYSF):c.2367G>A (p.Gln789=) rs2152803972
NM_001130987.2(DYSF):c.2371del (p.Glu791fs) rs1559162638
NM_001130987.2(DYSF):c.2374G>A (p.Asp792Asn) rs2152803988
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter) rs1559162681
NM_001130987.2(DYSF):c.2383C>T (p.Leu795=)
NM_001130987.2(DYSF):c.2386C>A (p.Arg796Ser)
NM_001130987.2(DYSF):c.2388T>C (p.Arg796=) rs2152804009
NM_001130987.2(DYSF):c.239+14A>T
NM_001130987.2(DYSF):c.239+15G>A
NM_001130987.2(DYSF):c.239+15G>T
NM_001130987.2(DYSF):c.239+16G>A rs370433490
NM_001130987.2(DYSF):c.239+16G>C rs370433490
NM_001130987.2(DYSF):c.239+17G>A
NM_001130987.2(DYSF):c.239+17G>T
NM_001130987.2(DYSF):c.239+18G>A rs2152682840
NM_001130987.2(DYSF):c.239+20G>T
NM_001130987.2(DYSF):c.239+20del
NM_001130987.2(DYSF):c.239+7T>A
NM_001130987.2(DYSF):c.239+7T>G
NM_001130987.2(DYSF):c.2397C>G (p.Ala799=)
NM_001130987.2(DYSF):c.2398del (p.Leu800fs)
NM_001130987.2(DYSF):c.240-10C>T
NM_001130987.2(DYSF):c.240-14C>T
NM_001130987.2(DYSF):c.240-1G>A rs1553518087
NM_001130987.2(DYSF):c.240-3C>T rs1013317246
NM_001130987.2(DYSF):c.240-5C>T rs1559021086
NM_001130987.2(DYSF):c.240-6T>A rs896011451
NM_001130987.2(DYSF):c.2404G>A (p.Glu802Lys)
NM_001130987.2(DYSF):c.2406_2409+1del rs398123774
NM_001130987.2(DYSF):c.2409+10C>T rs2152804044
NM_001130987.2(DYSF):c.2409+13G>C rs2152804057
NM_001130987.2(DYSF):c.2409+1G>T
NM_001130987.2(DYSF):c.2410-10C>G
NM_001130987.2(DYSF):c.2410-11C>T
NM_001130987.2(DYSF):c.2410-15C>A
NM_001130987.2(DYSF):c.2410-17C>T
NM_001130987.2(DYSF):c.2410-20G>A
NM_001130987.2(DYSF):c.2410-2A>G rs1242016118
NM_001130987.2(DYSF):c.2410-6G>A rs113640471
NM_001130987.2(DYSF):c.2410-6G>T rs113640471
NM_001130987.2(DYSF):c.2411C>A (p.Pro804His) rs768226528
NM_001130987.2(DYSF):c.2414A>G (p.Gln805Arg)
NM_001130987.2(DYSF):c.2418C>T (p.Asn806=)
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.2424G>A (p.Leu808=)
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.2436C>T (p.Val812=)
NM_001130987.2(DYSF):c.2439C>G (p.Ile813Met) rs2091945245
NM_001130987.2(DYSF):c.2442G>A (p.Trp814Ter) rs2091945455
NM_001130987.2(DYSF):c.2444T>A (p.Met815Lys) rs1553550862
NM_001130987.2(DYSF):c.2448G>C (p.Leu816=) rs1416175829
NM_001130987.2(DYSF):c.2450A>G (p.Gln817Arg)
NM_001130987.2(DYSF):c.2454A>T (p.Gly818=)
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup) rs1326126736
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter) rs1574016452
NM_001130987.2(DYSF):c.2476C>T (p.Arg826Trp) rs1345130790
NM_001130987.2(DYSF):c.2476dup (p.Arg826fs)
NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)
NM_001130987.2(DYSF):c.2481G>A (p.Val827=)
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) rs146819460
NM_001130987.2(DYSF):c.2483_2484dup (p.Ala829fs)
NM_001130987.2(DYSF):c.2485G>T (p.Ala829Ser) rs562925562
NM_001130987.2(DYSF):c.2486C>T (p.Ala829Val) rs2091948098
NM_001130987.2(DYSF):c.2489A>C (p.His830Pro) rs2091948551
NM_001130987.2(DYSF):c.2491C>G (p.Gln831Glu) rs2152806432
NM_001130987.2(DYSF):c.2496C>T (p.Val832=) rs932447764
NM_001130987.2(DYSF):c.2499C>T (p.Leu833=)
NM_001130987.2(DYSF):c.2500T>C (p.Phe834Leu)
NM_001130987.2(DYSF):c.2509C>A (p.Arg837=) rs371841411
NM_001130987.2(DYSF):c.2509C>G (p.Arg837Gly)
NM_001130987.2(DYSF):c.2511G>A (p.Arg837=)
NM_001130987.2(DYSF):c.2514T>G (p.Gly838=) rs772432464
NM_001130987.2(DYSF):c.2517C>T (p.Ala839=)
NM_001130987.2(DYSF):c.2519A>C (p.Asn840Thr)
NM_001130987.2(DYSF):c.2519A>G (p.Asn840Ser)
NM_001130987.2(DYSF):c.2520C>T (p.Asn840=)
NM_001130987.2(DYSF):c.2523C>G (p.Tyr841Ter) rs2091950553
NM_001130987.2(DYSF):c.2523C>T (p.Tyr841=) rs2091950553
NM_001130987.2(DYSF):c.2524del (p.Cys842fs) rs1553551006
NM_001130987.2(DYSF):c.2526T>C (p.Cys842=)
NM_001130987.2(DYSF):c.2528G>T (p.Gly843Val)
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
NM_001130987.2(DYSF):c.2541G>A (p.Gly847=)
NM_001130987.2(DYSF):c.2545C>T (p.Leu849=) rs2152806488
NM_001130987.2(DYSF):c.2547A>G (p.Leu849=)
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
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.2552C>G (p.Thr851Arg)
NM_001130987.2(DYSF):c.2560C>G (p.Leu854Val)
NM_001130987.2(DYSF):c.2562G>A (p.Leu854=) rs763143515
NM_001130987.2(DYSF):c.2562G>C (p.Leu854=)
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) rs2091951931
NM_001130987.2(DYSF):c.2565+18C>T
NM_001130987.2(DYSF):c.2565+19dup rs1160697607
NM_001130987.2(DYSF):c.2565+20A>G
NM_001130987.2(DYSF):c.2565+20A>T
NM_001130987.2(DYSF):c.2566-1495_3202del
NM_001130987.2(DYSF):c.2566-1496_3203del
NM_001130987.2(DYSF):c.2566-14T>C
NM_001130987.2(DYSF):c.2566-14_2566-12del
NM_001130987.2(DYSF):c.2566-17C>T
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2569C>T (p.Pro857Ser) rs923314140
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) rs2092205152
NM_001130987.2(DYSF):c.2583G>C (p.Val861=) rs554512393
NM_001130987.2(DYSF):c.2590G>T (p.Ala864Ser)
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter) rs780129376
NM_001130987.2(DYSF):c.2612G>C (p.Arg871Pro) rs779790516
NM_001130987.2(DYSF):c.2613G>A (p.Arg871=)
NM_001130987.2(DYSF):c.2615T>G (p.Val872Gly) rs1574041904
NM_001130987.2(DYSF):c.2616C>T (p.Val872=)
NM_001130987.2(DYSF):c.2624G>A (p.Trp875Ter) rs2152811000
NM_001130987.2(DYSF):c.2628del (p.Phe876fs)
NM_001130987.2(DYSF):c.2631G>A (p.Gly877=) rs1465061221
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=) rs1465061221
NM_001130987.2(DYSF):c.2634C>T (p.Leu878=)
NM_001130987.2(DYSF):c.2635T>G (p.Ser879Ala)
NM_001130987.2(DYSF):c.2635_2636del (p.Val880fs) rs2152811004
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) rs2092208616
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) rs2092209337
NM_001130987.2(DYSF):c.2646G>C (p.Glu882Asp)
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
NM_001130987.2(DYSF):c.2648dup (p.Glu884fs) rs2092209876
NM_001130987.2(DYSF):c.2649G>A (p.Lys883=)
NM_001130987.2(DYSF):c.264A>G (p.Pro88=) rs2152715680
NM_001130987.2(DYSF):c.2650G>C (p.Glu884Gln) rs2092210085
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) rs2092210085
NM_001130987.2(DYSF):c.2652G>A (p.Glu884=) rs1221035313
NM_001130987.2(DYSF):c.2653T>A (p.Phe885Ile) rs2092210480
NM_001130987.2(DYSF):c.2664T>C (p.Phe888=) rs1441467585
NM_001130987.2(DYSF):c.2666C>T (p.Ala889Val)
NM_001130987.2(DYSF):c.2667T>C (p.Ala889=)
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=) rs530181166
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) rs2092211777
NM_001130987.2(DYSF):c.2677C>A (p.Leu893Met)
NM_001130987.2(DYSF):c.2680T>A (p.Ser894Thr) rs2092212282
NM_001130987.2(DYSF):c.2682T>G (p.Ser894=)
NM_001130987.2(DYSF):c.2684del (p.Val895fs)
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.2695A>C (p.Thr899Pro)
NM_001130987.2(DYSF):c.2697+14_2697+16del
NM_001130987.2(DYSF):c.2697+15_2697+17dup
NM_001130987.2(DYSF):c.2697+16C>G
NM_001130987.2(DYSF):c.2697+16C>T
NM_001130987.2(DYSF):c.2697+17C>T
NM_001130987.2(DYSF):c.2697+19C>T
NM_001130987.2(DYSF):c.2697+1G>C rs140108514
NM_001130987.2(DYSF):c.2697+20C>A
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2697+5G>C rs2092213253
NM_001130987.2(DYSF):c.2697+9C>T rs2152811121
NM_001130987.2(DYSF):c.2698-15T>G
NM_001130987.2(DYSF):c.2698-19A>C
NM_001130987.2(DYSF):c.2698-3C>T rs2092221987
NM_001130987.2(DYSF):c.2698-6C>T
NM_001130987.2(DYSF):c.2698-7C>A
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.2715G>A (p.Lys905=) rs2152811276
NM_001130987.2(DYSF):c.2718G>A (p.Leu906=)
NM_001130987.2(DYSF):c.2722C>T (p.Leu908Phe)
NM_001130987.2(DYSF):c.2729G>A (p.Gly910Glu)
NM_001130987.2(DYSF):c.273G>A (p.Glu91=) rs1191751443
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=) rs775337850
NM_001130987.2(DYSF):c.2745G>C (p.Thr915=) rs775337850
NM_001130987.2(DYSF):c.2745G>T (p.Thr915=)
NM_001130987.2(DYSF):c.2760C>A (p.Pro920=)
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.276C>G (p.Val92=) rs1423519649
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) rs2092226553
NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del) rs1553553762
NM_001130987.2(DYSF):c.2779G>A (p.Gly927Ser) rs936655959
NM_001130987.2(DYSF):c.2780G>T (p.Gly927Val) rs1553553778
NM_001130987.2(DYSF):c.2781del (p.Lys928fs)
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
NM_001130987.2(DYSF):c.2789A>C (p.Lys930Thr)
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.2796C>A (p.Pro932=)
NM_001130987.2(DYSF):c.2802C>T (p.Asp934=)
NM_001130987.2(DYSF):c.2803A>C (p.Ser935Arg)
NM_001130987.2(DYSF):c.2807dup (p.Arg937fs)
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
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.2811C>T (p.Arg937=) rs1378187679
NM_001130987.2(DYSF):c.2814C>G (p.Pro938=) rs2152811408
NM_001130987.2(DYSF):c.2814C>T (p.Pro938=) rs2152811408
NM_001130987.2(DYSF):c.2817G>T (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2823C>T (p.Gly941=)
NM_001130987.2(DYSF):c.2824T>G (p.Trp942Gly) rs780035723
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.2832G>A (p.Trp944Ter)
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.2848G>A (p.Val950Met)
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu) rs774307376
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) rs2092231526
NM_001130987.2(DYSF):c.2857G>T (p.Glu953Ter)
NM_001130987.2(DYSF):c.2857_2859del (p.Glu953del)
NM_001130987.2(DYSF):c.2859G>A (p.Glu953=) rs2152811483
NM_001130987.2(DYSF):c.2864+11G>T
NM_001130987.2(DYSF):c.2864+12G>A
NM_001130987.2(DYSF):c.2864+14A>C
NM_001130987.2(DYSF):c.2864+14A>G
NM_001130987.2(DYSF):c.2864+19G>A
NM_001130987.2(DYSF):c.2864+1dup
NM_001130987.2(DYSF):c.2864+20G>A
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.2864+7C>A rs770354145
NM_001130987.2(DYSF):c.2864+7_2864+9del rs2152811500
NM_001130987.2(DYSF):c.2864+8G>T rs371686795
NM_001130987.2(DYSF):c.2864+9T>C
NM_001130987.2(DYSF):c.2865-11dup
NM_001130987.2(DYSF):c.2865-16C>G rs1394253038
NM_001130987.2(DYSF):c.2865-1G>A rs2152813916
NM_001130987.2(DYSF):c.2865-20T>C
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2865-2A>G
NM_001130987.2(DYSF):c.2865-4A>G
NM_001130987.2(DYSF):c.2865-6C>T
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2865-9C>T
NM_001130987.2(DYSF):c.2866C>G (p.Leu956Val) rs777421461
NM_001130987.2(DYSF):c.2866C>T (p.Leu956=)
NM_001130987.2(DYSF):c.2868G>C (p.Leu956=)
NM_001130987.2(DYSF):c.2871C>A (p.Leu957=) rs373185538
NM_001130987.2(DYSF):c.2871C>T (p.Leu957=) rs373185538
NM_001130987.2(DYSF):c.2872C>T (p.His958Tyr)
NM_001130987.2(DYSF):c.2875G>C (p.Asp959His) rs1553554968
NM_001130987.2(DYSF):c.287C>T (p.Pro96Leu) rs774912908
NM_001130987.2(DYSF):c.2888G>A (p.Gly963Asp)
NM_001130987.2(DYSF):c.2888del (p.Gly963fs)
NM_001130987.2(DYSF):c.2891del (p.His964fs)
NM_001130987.2(DYSF):c.2892C>T (p.His964=) rs886044637
NM_001130987.2(DYSF):c.2895G>C (p.Leu965=)
NM_001130987.2(DYSF):c.2898C>T (p.Ser966=)
NM_001130987.2(DYSF):c.2900_2906del (p.Ser966_Phe967insTer)
NM_001130987.2(DYSF):c.2902G>A (p.Val968Met)
NM_001130987.2(DYSF):c.2905G>T (p.Glu969Ter) rs2152813970
NM_001130987.2(DYSF):c.2907A>G (p.Glu969=)
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.2928C>T (p.Thr976=) rs148531939
NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro) rs752689148
NM_001130987.2(DYSF):c.2932C>T (p.Leu978Phe)
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001130987.2(DYSF):c.2947del (p.Trp983fs)
NM_001130987.2(DYSF):c.2948G>A (p.Trp983Ter) rs1268594965
NM_001130987.2(DYSF):c.2955dup (p.Met986fs) rs2152814060
NM_001130987.2(DYSF):c.2956A>C (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) rs775907195
NM_001130987.2(DYSF):c.2962G>A (p.Asp988Asn)
NM_001130987.2(DYSF):c.2964C>T (p.Asp988=)
NM_001130987.2(DYSF):c.2967C>T (p.Asn989=) rs932028347
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn) rs2152814096
NM_001130987.2(DYSF):c.296C>T (p.Ser99Phe)
NM_001130987.2(DYSF):c.2971A>G (p.Thr991Ala)
NM_001130987.2(DYSF):c.2972C>T (p.Thr991Ile) rs2152814108
NM_001130987.2(DYSF):c.2974G>C (p.Asp992His) rs200422222
NM_001130987.2(DYSF):c.2976T>A (p.Asp992Glu) rs1328741092
NM_001130987.2(DYSF):c.2977G>A (p.Val993Met)
NM_001130987.2(DYSF):c.2979+12A>T
NM_001130987.2(DYSF):c.2979+13C>G
NM_001130987.2(DYSF):c.2979+16del
NM_001130987.2(DYSF):c.2979+20G>T
NM_001130987.2(DYSF):c.2979+8A>C
NM_001130987.2(DYSF):c.297C>A (p.Ser99=)
NM_001130987.2(DYSF):c.2980-15C>G
NM_001130987.2(DYSF):c.2980-19T>C
NM_001130987.2(DYSF):c.2980-1G>C rs2092340224
NM_001130987.2(DYSF):c.2980-4T>A rs2152814485
NM_001130987.2(DYSF):c.2980-5C>G
NM_001130987.2(DYSF):c.2980-7T>G
NM_001130987.2(DYSF):c.2980-8G>A
NM_001130987.2(DYSF):c.2985G>A (p.Gly995=) rs772573481
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter) rs2092340623
NM_001130987.2(DYSF):c.298G>A (p.Ala100Thr)
NM_001130987.2(DYSF):c.298_300del (p.Ala100del) rs1316197789
NM_001130987.2(DYSF):c.2991G>A (p.Lys997=)
NM_001130987.2(DYSF):c.2994del (p.Leu999fs) rs2092340996
NM_001130987.2(DYSF):c.3009C>T (p.Asp1003=)
NM_001130987.2(DYSF):c.300del (p.Ser101fs)
NM_001130987.2(DYSF):c.3010A>G (p.Ile1004Val) rs1559183642
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) rs763925689
NM_001130987.2(DYSF):c.3018_3019delinsAA (p.Cys1006_Pro1007delinsTer) rs2152814567
NM_001130987.2(DYSF):c.301A>G (p.Ser101Gly) rs1553518141
NM_001130987.2(DYSF):c.3020C>T (p.Pro1007Leu)
NM_001130987.2(DYSF):c.3021A>C (p.Pro1007=)
NM_001130987.2(DYSF):c.3021A>G (p.Pro1007=) rs767310734
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
NM_001130987.2(DYSF):c.3033G>A (p.Lys1011=)
NM_001130987.2(DYSF):c.3034T>A (p.Trp1012Arg)
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3045G>A (p.Glu1015=)
NM_001130987.2(DYSF):c.3049T>C (p.Trp1017Arg) rs886044098
NM_001130987.2(DYSF):c.3050G>A (p.Trp1017Ter) rs2152814618
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.3067C>A (p.Arg1023=) rs778316824
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.306del (p.Phe102fs) rs2085171684
NM_001130987.2(DYSF):c.3070G>A (p.Ala1024Thr)
NM_001130987.2(DYSF):c.3070G>C (p.Ala1024Pro)
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=) rs2092344930
NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)
NM_001130987.2(DYSF):c.3078T>C (p.Asp1026=)
NM_001130987.2(DYSF):c.3080A>G (p.Glu1027Gly)
NM_001130987.2(DYSF):c.3080A>T (p.Glu1027Val) rs886044474
NM_001130987.2(DYSF):c.3085+10A>G
NM_001130987.2(DYSF):c.3085+11T>A
NM_001130987.2(DYSF):c.3085+18C>A
NM_001130987.2(DYSF):c.3085+1G>A rs1553555585
NM_001130987.2(DYSF):c.3085+1G>T rs1553555585
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3085+3G>A
NM_001130987.2(DYSF):c.3085+8G>A rs2092345901
NM_001130987.2(DYSF):c.3085G>A (p.Gly1029Ser)
NM_001130987.2(DYSF):c.3086-10C>T
NM_001130987.2(DYSF):c.3086-11C>G
NM_001130987.2(DYSF):c.3086-13C>G
NM_001130987.2(DYSF):c.3086-13C>T
NM_001130987.2(DYSF):c.3086-16G>T
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3086-18C>A
NM_001130987.2(DYSF):c.3086-18C>T rs181786284
NM_001130987.2(DYSF):c.3086-2A>G rs2092361815
NM_001130987.2(DYSF):c.3086-4C>T
NM_001130987.2(DYSF):c.3086-7C>T
NM_001130987.2(DYSF):c.3086-9C>A rs185350547
NM_001130987.2(DYSF):c.3087C>T (p.Gly1029=)
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
NM_001130987.2(DYSF):c.3091del (p.Glu1031fs)
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
NM_001130987.2(DYSF):c.3093G>A (p.Glu1031=) rs1167647963
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3096T>C (p.Tyr1032=) rs2152815115
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) rs1553555901
NM_001130987.2(DYSF):c.309T>C (p.Asn103=) rs1231985809
NM_001130987.2(DYSF):c.3107del (p.Ile1036fs)
NM_001130987.2(DYSF):c.3108C>A (p.Ile1036=) rs368033221
NM_001130987.2(DYSF):c.3108C>G (p.Ile1036Met)
NM_001130987.2(DYSF):c.3108C>T (p.Ile1036=)
NM_001130987.2(DYSF):c.3113C>A (p.Pro1038Gln) rs764931697
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs) rs753711667
NM_001130987.2(DYSF):c.3115dup (p.Glu1039fs)
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) rs1237272381
NM_001130987.2(DYSF):c.311C>T (p.Ala104Val) rs767981823
NM_001130987.2(DYSF):c.3120G>A (p.Arg1040=)
NM_001130987.2(DYSF):c.3126G>C (p.Pro1042=) rs377235191
NM_001130987.2(DYSF):c.312C>T (p.Ala104=)
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) rs2092365476
NM_001130987.2(DYSF):c.3134G>A (p.Trp1045Ter) rs142289638
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
NM_001130987.2(DYSF):c.3141T>C (p.Pro1047=) rs780246050
NM_001130987.2(DYSF):c.3144T>C (p.Ala1048=) rs762991691
NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu) rs2092366383
NM_001130987.2(DYSF):c.3149A>T (p.Lys1050Met) rs1338389103
NM_001130987.2(DYSF):c.3150G>C (p.Lys1050Asn)
NM_001130987.2(DYSF):c.3153G>A (p.Met1051Ile) rs2092366716
NM_001130987.2(DYSF):c.3155A>G (p.Tyr1052Cys) rs1553556062
NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs)
NM_001130987.2(DYSF):c.3159C>A (p.Tyr1053Ter)
NM_001130987.2(DYSF):c.315C>A (p.Pro105=)
NM_001130987.2(DYSF):c.315C>G (p.Pro105=)
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) rs770883682
NM_001130987.2(DYSF):c.3162A>C (p.Thr1054=)
NM_001130987.2(DYSF):c.3164_3169del (p.His1055_Arg1056del) rs1559185944
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=) rs369607332
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3167G>C (p.Arg1056Pro)
NM_001130987.2(DYSF):c.3168A>G (p.Arg1056=) rs763654971
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
NM_001130987.2(DYSF):c.3170G>T (p.Arg1057Leu)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) rs2092369130
NM_001130987.2(DYSF):c.3180G>A (p.Trp1060Ter)
NM_001130987.2(DYSF):c.3186C>T (p.Arg1062=) rs1471242249
NM_001130987.2(DYSF):c.3187C>T (p.Leu1063=) rs2152815288
NM_001130987.2(DYSF):c.3189G>A (p.Leu1063=) rs2152815295
NM_001130987.2(DYSF):c.3189G>T (p.Leu1063=) rs2152815295
NM_001130987.2(DYSF):c.3190C>A (p.Arg1064Ser)
NM_001130987.2(DYSF):c.3201T>C (p.Asp1067=)
NM_001130987.2(DYSF):c.3203_3204del (p.Leu1068fs) rs1260279185
NM_001130987.2(DYSF):c.3208C>A (p.Gln1070Lys)
NM_001130987.2(DYSF):c.320T>C (p.Leu107Pro) rs2152715793
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
NM_001130987.2(DYSF):c.3212T>G (p.Met1071Arg)
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
NM_001130987.2(DYSF):c.3219A>C (p.Ala1073=) rs1353352875
NM_001130987.2(DYSF):c.3219A>G (p.Ala1073=) rs1353352875
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
NM_001130987.2(DYSF):c.3220C>T (p.Leu1074=)
NM_001130987.2(DYSF):c.3228+10C>A
NM_001130987.2(DYSF):c.3228+10C>T
NM_001130987.2(DYSF):c.3228+13G>A rs896149148
NM_001130987.2(DYSF):c.3228+161_3228+182dup rs1265903256
NM_001130987.2(DYSF):c.3228+17T>C
NM_001130987.2(DYSF):c.3228+1G>A rs2092371566
NM_001130987.2(DYSF):c.3228+1G>C rs2092371566
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.3228+7_3228+22dup
NM_001130987.2(DYSF):c.3228+8A>G rs749135257
NM_001130987.2(DYSF):c.3228+8A>T rs749135257
NM_001130987.2(DYSF):c.3228+8_3228+33del rs1553556251
NM_001130987.2(DYSF):c.3229-14C>T rs1020437649
NM_001130987.2(DYSF):c.3229-16C>T
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.3229-7T>C rs1462610030
NM_001130987.2(DYSF):c.3229C>G (p.His1077Asp)
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4]) rs398123779
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) rs1666836481
NM_001130987.2(DYSF):c.3243G>A (p.Glu1081=)
NM_001130987.2(DYSF):c.3245C>T (p.Ala1082Val)
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs) rs2152822956
NM_001130987.2(DYSF):c.3252C>T (p.Gly1084=)
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3255G>A (p.Glu1085=)
NM_001130987.2(DYSF):c.3257G>T (p.Gly1086Val) rs753826832
NM_001130987.2(DYSF):c.3257del (p.Gly1086fs)
NM_001130987.2(DYSF):c.3258C>T (p.Gly1086=)
NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)
NM_001130987.2(DYSF):c.3269C>G (p.Ala1090Gly)
NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs)
NM_001130987.2(DYSF):c.3273T>G (p.Ser1091=)
NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs) rs1574097294
NM_001130987.2(DYSF):c.3275T>C (p.Leu1092Pro)
NM_001130987.2(DYSF):c.3276T>C (p.Leu1092=)
NM_001130987.2(DYSF):c.3279T>C (p.Phe1093=)
NM_001130987.2(DYSF):c.3279dup (p.Gly1094fs)
NM_001130987.2(DYSF):c.3282C>T (p.Gly1094=)
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.3291C>T (p.Phe1097=)
NM_001130987.2(DYSF):c.3295C>T (p.Leu1099Phe) rs770433229
NM_001130987.2(DYSF):c.3297C>A (p.Leu1099=) rs144936357
NM_001130987.2(DYSF):c.3297C>G (p.Leu1099=)
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His) rs369345918
NM_001130987.2(DYSF):c.330G>A (p.Lys110=) rs1573565747
NM_001130987.2(DYSF):c.3311C>T (p.Thr1104Ile) rs1553361773
NM_001130987.2(DYSF):c.3312A>G (p.Thr1104=)
NM_001130987.2(DYSF):c.3313G>A (p.Asp1105Asn)
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup) rs1553361783
NM_001130987.2(DYSF):c.3315T>C (p.Asp1105=)
NM_001130987.2(DYSF):c.3315T>G (p.Asp1105Glu) rs886043916
NM_001130987.2(DYSF):c.3322C>A (p.Arg1108Ser)
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)
NM_001130987.2(DYSF):c.3322CGC[3] (p.Arg1111del) rs779680055
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3324C>T (p.Arg1108=) rs2152823096
NM_001130987.2(DYSF):c.3325C>T (p.Arg1109Cys) rs765271624
NM_001130987.2(DYSF):c.3330C>A (p.Arg1110=) rs2152823127
NM_001130987.2(DYSF):c.3332G>A (p.Arg1111His)
NM_001130987.2(DYSF):c.3332G>T (p.Arg1111Leu)
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.3334T>A (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3334_3345del (p.Trp1112_Arg1115del)
NM_001130987.2(DYSF):c.3336G>A (p.Trp1112Ter)
NM_001130987.2(DYSF):c.3336del (p.Trp1112fs)
NM_001130987.2(DYSF):c.3337C>A (p.Arg1113Ser)
NM_001130987.2(DYSF):c.3337C>G (p.Arg1113Gly) rs141536854
NM_001130987.2(DYSF):c.3340C>A (p.Arg1114Ser)
NM_001130987.2(DYSF):c.3342T>A (p.Arg1114=)
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3350A>G (p.Glu1117Gly) rs2152823191
NM_001130987.2(DYSF):c.3354A>G (p.Pro1118=) rs1235233076
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter) rs1558513494
NM_001130987.2(DYSF):c.3363G>A (p.Lys1121=)
NM_001130987.2(DYSF):c.3366G>C (p.Thr1122=) rs149986783
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
NM_001130987.2(DYSF):c.336G>A (p.Gln112=) rs2152715817
NM_001130987.2(DYSF):c.3375A>G (p.Ala1125=) rs1574098655
NM_001130987.2(DYSF):c.3380T>G (p.Val1127Gly)
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.3387C>T (p.Ala1129=)
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)
NM_001130987.2(DYSF):c.3396G>A (p.Gly1132=)
NM_001130987.2(DYSF):c.3396G>T (p.Gly1132=)
NM_001130987.2(DYSF):c.3397G>A (p.Ala1133Thr)
NM_001130987.2(DYSF):c.3398C>T (p.Ala1133Val)
NM_001130987.2(DYSF):c.3399C>T (p.Ala1133=)
NM_001130987.2(DYSF):c.339C>T (p.Pro113=) rs1432668893
NM_001130987.2(DYSF):c.3402+10G>A
NM_001130987.2(DYSF):c.3402+13G>A
NM_001130987.2(DYSF):c.3402+14C>T
NM_001130987.2(DYSF):c.3402+1G>A
NM_001130987.2(DYSF):c.3402+9G>A rs533984377
NM_001130987.2(DYSF):c.3403-109_3436del
NM_001130987.2(DYSF):c.3403-11C>T
NM_001130987.2(DYSF):c.3403-13T>C
NM_001130987.2(DYSF):c.3403-14C>T
NM_001130987.2(DYSF):c.3403-16A>G
NM_001130987.2(DYSF):c.3403-17C>G
NM_001130987.2(DYSF):c.3403-17C>T rs2152842383
NM_001130987.2(DYSF):c.3403-20A>G
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) rs202000264
NM_001130987.2(DYSF):c.3406G>T (p.Gly1136Cys) rs202000264
NM_001130987.2(DYSF):c.3407del (p.Gly1136fs)
NM_001130987.2(DYSF):c.341C>T (p.Thr114Ile)
NM_001130987.2(DYSF):c.341del (p.Thr114fs)
NM_001130987.2(DYSF):c.3423G>A (p.Lys1141=)
NM_001130987.2(DYSF):c.3425G>A (p.Ser1142Asn)
NM_001130987.2(DYSF):c.3427del (p.Glu1143fs) rs2093189899
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
NM_001130987.2(DYSF):c.3435C>T (p.Ser1145=)
NM_001130987.2(DYSF):c.3436A>T (p.Met1146Leu)
NM_001130987.2(DYSF):c.3440C>T (p.Ser1147Phe)
NM_001130987.2(DYSF):c.3441C>G (p.Ser1147=)
NM_001130987.2(DYSF):c.3443_3453dup (p.Ser1152_Phe1153insProProTer)
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.344G>T (p.Gly115Val)
NM_001130987.2(DYSF):c.345+11A>G
NM_001130987.2(DYSF):c.345+11A>T
NM_001130987.2(DYSF):c.345+12T>C
NM_001130987.2(DYSF):c.345+13C>T
NM_001130987.2(DYSF):c.345+15G>A
NM_001130987.2(DYSF):c.345+17C>G
NM_001130987.2(DYSF):c.345+1G>A
NM_001130987.2(DYSF):c.345+1G>C
NM_001130987.2(DYSF):c.345+1G>T rs2152715844
NM_001130987.2(DYSF):c.345+2T>C rs2152715847
NM_001130987.2(DYSF):c.345+7G>T
NM_001130987.2(DYSF):c.3450C>T (p.Thr1150=) rs2152842489
NM_001130987.2(DYSF):c.3453G>A (p.Leu1151=)
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=) rs778088008
NM_001130987.2(DYSF):c.346-10T>C
NM_001130987.2(DYSF):c.346-14C>T
NM_001130987.2(DYSF):c.346-17C>G rs370498369
NM_001130987.2(DYSF):c.346-19C>A
NM_001130987.2(DYSF):c.346-2A>C
NM_001130987.2(DYSF):c.346-7C>G
NM_001130987.2(DYSF):c.346-8T>G
NM_001130987.2(DYSF):c.3461G>A (p.Gly1154Asp)
NM_001130987.2(DYSF):c.3469A>C (p.Arg1157=) rs2152842518
NM_001130987.2(DYSF):c.3474C>T (p.Pro1158=)
NM_001130987.2(DYSF):c.3477G>T (p.Thr1159=)
NM_001130987.2(DYSF):c.3480T>C (p.Ile1160=) rs768564735
NM_001130987.2(DYSF):c.3483del (p.Cys1162fs) rs886042632
NM_001130987.2(DYSF):c.3484T>C (p.Cys1162Arg) rs1353308560
NM_001130987.2(DYSF):c.3489A>T (p.Ile1163=)
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3493G>C (p.Asp1165His) rs761528558
NM_001130987.2(DYSF):c.3496+12T>C
NM_001130987.2(DYSF):c.3496+18G>C
NM_001130987.2(DYSF):c.3496+20C>T
NM_001130987.2(DYSF):c.3496+8A>C
NM_001130987.2(DYSF):c.3496T>C (p.Tyr1166His) rs2152842558
NM_001130987.2(DYSF):c.3497-10C>A
NM_001130987.2(DYSF):c.3497-10C>G rs1399992374
NM_001130987.2(DYSF):c.3497-10C>T rs1399992374
NM_001130987.2(DYSF):c.3497-13T>A
NM_001130987.2(DYSF):c.3497-13dup
NM_001130987.2(DYSF):c.3497-19G>A
NM_001130987.2(DYSF):c.3497-33A>G rs786205083
NM_001130987.2(DYSF):c.3497-5T>C
NM_001130987.2(DYSF):c.3497-5del rs2152843358
NM_001130987.2(DYSF):c.3498T>C (p.Tyr1166=) rs758944159
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>C (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3508T>C (p.Tyr1170His) rs749405808
NM_001130987.2(DYSF):c.3510C>T (p.Tyr1170=)
NM_001130987.2(DYSF):c.3512A>G (p.His1171Arg)
NM_001130987.2(DYSF):c.3514C>T (p.Leu1172=)
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs) rs2093220811
NM_001130987.2(DYSF):c.3518G>A (p.Arg1173His)
NM_001130987.2(DYSF):c.3519C>T (p.Arg1173=)
NM_001130987.2(DYSF):c.3520T>C (p.Cys1174Arg) rs886044028
NM_001130987.2(DYSF):c.3522C>T (p.Cys1174=)
NM_001130987.2(DYSF):c.3526A>G (p.Met1176Val)
NM_001130987.2(DYSF):c.3527T>C (p.Met1176Thr)
NM_001130987.2(DYSF):c.3534G>A (p.Gln1178=)
NM_001130987.2(DYSF):c.3537C>T (p.Ala1179=)
NM_001130987.2(DYSF):c.3538C>A (p.Arg1180=)
NM_001130987.2(DYSF):c.3540G>A (p.Arg1180=)
NM_001130987.2(DYSF):c.3540_3541del (p.Asp1181fs) rs2152843443
NM_001130987.2(DYSF):c.3546G>A (p.Leu1182=)
NM_001130987.2(DYSF):c.354G>A (p.Leu118=)
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3556G>A (p.Asp1186Asn)
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs2093222376
NM_001130987.2(DYSF):c.3561G>A (p.Lys1187=)
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val) rs1442583354
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+14A>G
NM_001130987.2(DYSF):c.3574+15G>A
NM_001130987.2(DYSF):c.3574+15G>C
NM_001130987.2(DYSF):c.3574+16G>C
NM_001130987.2(DYSF):c.3574+1G>A rs2152843484
NM_001130987.2(DYSF):c.3574+5G>A rs886043276
NM_001130987.2(DYSF):c.3575-10G>A rs1293988031
NM_001130987.2(DYSF):c.3575-15C>T
NM_001130987.2(DYSF):c.3575-16_3575-7del rs2093461917
NM_001130987.2(DYSF):c.3575-17C>A
NM_001130987.2(DYSF):c.3575-17C>G
NM_001130987.2(DYSF):c.3575-18C>G
NM_001130987.2(DYSF):c.3575-18C>T rs376861951
NM_001130987.2(DYSF):c.3575-1G>A rs2093462674
NM_001130987.2(DYSF):c.3575-1G>C
NM_001130987.2(DYSF):c.3575-2A>G rs2152855735
NM_001130987.2(DYSF):c.3575-3C>A
NM_001130987.2(DYSF):c.3575-5T>C rs2093462575
NM_001130987.2(DYSF):c.3575-6A>G
NM_001130987.2(DYSF):c.3575-6A>T
NM_001130987.2(DYSF):c.3575-7C>T
NM_001130987.2(DYSF):c.3575-9C>T
NM_001130987.2(DYSF):c.357C>A (p.Val119=)
NM_001130987.2(DYSF):c.357C>G (p.Val119=)
NM_001130987.2(DYSF):c.3585C>T (p.Ala1195=)
NM_001130987.2(DYSF):c.3588C>A (p.Ile1196=)
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.3591C>T (p.Val1197=)
NM_001130987.2(DYSF):c.3594C>A (p.Ser1198=)
NM_001130987.2(DYSF):c.3594C>T (p.Ser1198=) rs2093463237
NM_001130987.2(DYSF):c.359T>C (p.Leu120Pro)
NM_001130987.2(DYSF):c.3603C>T (p.His1201=)
NM_001130987.2(DYSF):c.360G>A (p.Leu120=)
NM_001130987.2(DYSF):c.3617C>T (p.Thr1206Met)
NM_001130987.2(DYSF):c.3618G>A (p.Thr1206=) rs913686558
NM_001130987.2(DYSF):c.3618G>C (p.Thr1206=) rs913686558
NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter) rs1423123313
NM_001130987.2(DYSF):c.3621G>A (p.Val1207=)
NM_001130987.2(DYSF):c.3624G>A (p.Val1208=)
NM_001130987.2(DYSF):c.3627G>A (p.Val1209=)
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)
NM_001130987.2(DYSF):c.3630dup (p.Asn1211fs) rs2152855822
NM_001130987.2(DYSF):c.3634A>C (p.Thr1212Pro)
NM_001130987.2(DYSF):c.3642C>A (p.Asn1214Lys)
NM_001130987.2(DYSF):c.3642C>T (p.Asn1214=)
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala)
NM_001130987.2(DYSF):c.3648del (p.Trp1217fs)
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) rs2093464314
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3660G>T (p.Thr1220=) rs139897804
NM_001130987.2(DYSF):c.3665TCT[1] (p.Phe1223del) rs1173583014
NM_001130987.2(DYSF):c.3666del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)
NM_001130987.2(DYSF):c.3673G>A (p.Glu1225Lys) rs773703042
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.3679G>T (p.Glu1227Ter) rs773773555
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
NM_001130987.2(DYSF):c.3695C>G (p.Pro1232Arg)
NM_001130987.2(DYSF):c.3695del (p.Pro1232fs) rs398123783
NM_001130987.2(DYSF):c.369C>G (p.Ser123=)
NM_001130987.2(DYSF):c.3702A>C (p.Thr1234=) rs2093465610
NM_001130987.2(DYSF):c.3702del (p.Val1235fs)
NM_001130987.2(DYSF):c.3708T>C (p.Ala1236=)
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del) rs748683903
NM_001130987.2(DYSF):c.3717G>T (p.Pro1239=) rs150444588
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu) rs1385670493
NM_001130987.2(DYSF):c.3720C>T (p.Pro1240=)
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr) rs1553375353
NM_001130987.2(DYSF):c.3726T>C (p.Ile1242=) rs767498919
NM_001130987.2(DYSF):c.3732G>A (p.Val1244=) rs1301694427
NM_001130987.2(DYSF):c.3736C>T (p.Leu1246=)
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) rs2152855991
NM_001130987.2(DYSF):c.3738G>A (p.Leu1246=) rs780022977
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter) rs375160101
NM_001130987.2(DYSF):c.3744C>T (p.Asp1248=)
NM_001130987.2(DYSF):c.3750C>T (p.Asp1250=)
NM_001130987.2(DYSF):c.3755A>G (p.Tyr1252Cys)
NM_001130987.2(DYSF):c.3756+17C>T
NM_001130987.2(DYSF):c.3756+18C>T
NM_001130987.2(DYSF):c.3756+5G>A rs2093467146
NM_001130987.2(DYSF):c.3756T>A (p.Tyr1252Ter) rs141720146
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3757-18T>C
NM_001130987.2(DYSF):c.3757-19C>G
NM_001130987.2(DYSF):c.3757-19C>T
NM_001130987.2(DYSF):c.3757-2A>G rs886043149
NM_001130987.2(DYSF):c.3757-4C>A rs2152858725
NM_001130987.2(DYSF):c.3757-4C>T rs2152858725
NM_001130987.2(DYSF):c.3759T>G (p.Gly1253=)
NM_001130987.2(DYSF):c.375A>T (p.Thr125=)
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3763G>C (p.Asp1255His) rs1553376431
NM_001130987.2(DYSF):c.3768G>A (p.Glu1256=) rs1574276347
NM_001130987.2(DYSF):c.3772A>G (p.Met1258Val)
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.3792A>G (p.Gln1264=) rs762041312
NM_001130987.2(DYSF):c.3794C>A (p.Pro1265Gln)
NM_001130987.2(DYSF):c.3798T>C (p.Ser1266=) rs2152858798
NM_001130987.2(DYSF):c.3801G>A (p.Leu1267=) rs2152858802
NM_001130987.2(DYSF):c.3806G>A (p.Arg1269Gln)
NM_001130987.2(DYSF):c.3807G>A (p.Arg1269=)
NM_001130987.2(DYSF):c.3809T>C (p.Met1270Thr)
NM_001130987.2(DYSF):c.3812del (p.Pro1271fs)
NM_001130987.2(DYSF):c.3816G>T (p.Arg1272=)
NM_001130987.2(DYSF):c.3819G>A (p.Leu1273=)
NM_001130987.2(DYSF):c.381G>A (p.Leu127=)
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs) rs1553376558
NM_001130987.2(DYSF):c.3829C>T (p.Pro1277Ser) rs2093531034
NM_001130987.2(DYSF):c.3831A>G (p.Pro1277=)
NM_001130987.2(DYSF):c.3836C>A (p.Thr1279Lys) rs202013788
NM_001130987.2(DYSF):c.3837G>A (p.Thr1279=) rs780431455
NM_001130987.2(DYSF):c.3837G>T (p.Thr1279=) rs780431455
NM_001130987.2(DYSF):c.3838A>C (p.Arg1280=) rs749714780
NM_001130987.2(DYSF):c.3840G>A (p.Arg1280=) rs2152858882
NM_001130987.2(DYSF):c.3842del (p.Gly1281fs) rs2093531358
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) rs1574277160
NM_001130987.2(DYSF):c.3847C>T (p.Gln1283Ter)
NM_001130987.2(DYSF):c.3849G>A (p.Gln1283=)
NM_001130987.2(DYSF):c.3852G>T (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3854C>T (p.Ser1285Leu)
NM_001130987.2(DYSF):c.3855G>A (p.Ser1285=) rs765136335
NM_001130987.2(DYSF):c.3855G>C (p.Ser1285=) rs765136335
NM_001130987.2(DYSF):c.3855G>T (p.Ser1285=) rs765136335
NM_001130987.2(DYSF):c.3856G>A (p.Gly1286Arg) rs2093531900
NM_001130987.2(DYSF):c.3857G>A (p.Gly1286Glu) rs886043338
NM_001130987.2(DYSF):c.3859_3860delinsAT (p.Glu1287Met)
NM_001130987.2(DYSF):c.3859del (p.Glu1287fs)
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.3861G>A (p.Glu1287=) rs2152858929
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.3876T>C (p.Phe1292=) rs767082608
NM_001130987.2(DYSF):c.3879G>A (p.Glu1293=) rs2152858959
NM_001130987.2(DYSF):c.3881T>A (p.Leu1294His)
NM_001130987.2(DYSF):c.3885C>T (p.Ile1295=)
NM_001130987.2(DYSF):c.3887A>G (p.Gln1296Arg)
NM_001130987.2(DYSF):c.388G>A (p.Ala130Thr) rs1449509021
NM_001130987.2(DYSF):c.388G>T (p.Ala130Ser)
NM_001130987.2(DYSF):c.3894_3895del (p.Lys1299fs) rs1558584694
NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs)
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs1462064763
NM_001130987.2(DYSF):c.3897+10del rs2152859007
NM_001130987.2(DYSF):c.3897+14A>G
NM_001130987.2(DYSF):c.3897+15T>C
NM_001130987.2(DYSF):c.3897+1G>A rs1553376691
NM_001130987.2(DYSF):c.3897+1G>T
NM_001130987.2(DYSF):c.3897+269C>G rs17007090
NM_001130987.2(DYSF):c.3897+6G>A
NM_001130987.2(DYSF):c.3898-10_3898-9insGAT rs775213642
NM_001130987.2(DYSF):c.3898-11C>T
NM_001130987.2(DYSF):c.3898-15T>C
NM_001130987.2(DYSF):c.3898-16C>A
NM_001130987.2(DYSF):c.3898-19T>A rs2152859948
NM_001130987.2(DYSF):c.3898-19T>C
NM_001130987.2(DYSF):c.3898-1G>C rs2152859973
NM_001130987.2(DYSF):c.3898-2A>C rs989599402
NM_001130987.2(DYSF):c.3898-3C>T
NM_001130987.2(DYSF):c.3898-4C>T rs555206040
NM_001130987.2(DYSF):c.3898-5T>G rs2152859964
NM_001130987.2(DYSF):c.3898-7A>C
NM_001130987.2(DYSF):c.3898-7A>G
NM_001130987.2(DYSF):c.3898-8C>T
NM_001130987.2(DYSF):c.389del (p.Ala130fs)
NM_001130987.2(DYSF):c.3906C>T (p.Ile1302=) rs754355332
NM_001130987.2(DYSF):c.3912T>C (p.His1304=) rs2093550929
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) rs370620594
NM_001130987.2(DYSF):c.391G>C (p.Val131Leu)
NM_001130987.2(DYSF):c.3927+10G>A rs886056282
NM_001130987.2(DYSF):c.3927+10G>C
NM_001130987.2(DYSF):c.3958-13C>A
NM_001130987.2(DYSF):c.3958-13C>G rs1417797236
NM_001130987.2(DYSF):c.3958-1G>A
NM_001130987.2(DYSF):c.3958-5T>C rs758255732
NM_001130987.2(DYSF):c.3958-6C>A rs568840196
NM_001130987.2(DYSF):c.3958-6C>T
NM_001130987.2(DYSF):c.3958-8C>T
NM_001130987.2(DYSF):c.3958-8del rs2152874678
NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro) rs794727597
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs) rs1553381945
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs) rs398123784
NM_001130987.2(DYSF):c.3972C>T (p.Asp1324=)
NM_001130987.2(DYSF):c.3975G>A (p.Leu1325=)
NM_001130987.2(DYSF):c.3975G>C (p.Leu1325=) rs2152874732
NM_001130987.2(DYSF):c.3976C>T (p.Pro1326Ser)
NM_001130987.2(DYSF):c.3978C>T (p.Pro1326=)
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.3994A>C (p.Arg1332=) rs1293876957
NM_001130987.2(DYSF):c.3999G>A (p.Glu1333=)
NM_001130987.2(DYSF):c.399G>A (p.Leu133=) rs1258988203
NM_001130987.2(DYSF):c.4008C>A (p.Ile1336=)
NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter) rs147950418
NM_001130987.2(DYSF):c.4023G>A (p.Gln1341=)
NM_001130987.2(DYSF):c.4025A>C (p.Asn1342Thr)
NM_001130987.2(DYSF):c.4032G>A (p.Lys1344=)
NM_001130987.2(DYSF):c.4039C>T (p.Leu1347Phe)
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) rs778092738
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys) rs760074198
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.404_416del (p.Pro135fs) rs2152728683
NM_001130987.2(DYSF):c.4053C>T (p.Ala1351=) rs964824166
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
NM_001130987.2(DYSF):c.4054A>G (p.Ile1352Val)
NM_001130987.2(DYSF):c.4056C>T (p.Ile1352=)
NM_001130987.2(DYSF):c.4059+12G>A
NM_001130987.2(DYSF):c.4059+16C>G
NM_001130987.2(DYSF):c.4059+17T>C
NM_001130987.2(DYSF):c.4059+1G>A rs1229707459
NM_001130987.2(DYSF):c.4059+28del rs113849164
NM_001130987.2(DYSF):c.4059+3G>A
NM_001130987.2(DYSF):c.4059+7C>A rs562567295
NM_001130987.2(DYSF):c.4059+7_4059+8del rs2152874917
NM_001130987.2(DYSF):c.4059+9del rs2152874922
NM_001130987.2(DYSF):c.4060-10G>T rs1464571468
NM_001130987.2(DYSF):c.4060-12C>T
NM_001130987.2(DYSF):c.4060-14T>C rs1240369237
NM_001130987.2(DYSF):c.4060-16C>T
NM_001130987.2(DYSF):c.4060-17T>G
NM_001130987.2(DYSF):c.4060-18C>T
NM_001130987.2(DYSF):c.4060-19C>T rs2152875131
NM_001130987.2(DYSF):c.4060-40C>T rs2303605
NM_001130987.2(DYSF):c.4063C>T (p.Leu1355=) rs2152875185
NM_001130987.2(DYSF):c.4071G>A (p.Trp1357Ter) rs1424374529
NM_001130987.2(DYSF):c.4077G>A (p.Leu1359=) rs1403408041
NM_001130987.2(DYSF):c.4078C>A (p.Arg1360=) rs199870606
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
NM_001130987.2(DYSF):c.4086G>C (p.Met1362Ile) rs2152875227
NM_001130987.2(DYSF):c.4089G>A (p.Lys1363=)
NM_001130987.2(DYSF):c.408C>G (p.Pro136=)
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
NM_001130987.2(DYSF):c.4093T>G (p.Tyr1365Asp)
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.410dup (p.Thr138fs) rs886043342
NM_001130987.2(DYSF):c.4111TCC[1] (p.Ser1372del) rs398123785
NM_001130987.2(DYSF):c.4112C>T (p.Ser1371Phe)
NM_001130987.2(DYSF):c.4113C>A (p.Ser1371=) rs2152875258
NM_001130987.2(DYSF):c.4114del (p.Ser1372fs) rs2093761171
NM_001130987.2(DYSF):c.4119C>A (p.Pro1373=) rs775855517
NM_001130987.2(DYSF):c.411T>A (p.Pro137=)
NM_001130987.2(DYSF):c.4127T>A (p.Val1376Glu)
NM_001130987.2(DYSF):c.4129G>A (p.Val1377Ile)
NM_001130987.2(DYSF):c.4141_4142del (p.Gly1381fs)
NM_001130987.2(DYSF):c.4142dup (p.Gln1382fs)
NM_001130987.2(DYSF):c.4144C>T (p.Gln1382Ter) rs886042095
NM_001130987.2(DYSF):c.4149G>T (p.Thr1383=)
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met) rs1404000468
NM_001130987.2(DYSF):c.4152G>A (p.Val1384=)
NM_001130987.2(DYSF):c.4152G>C (p.Val1384=) rs757771727
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter) rs1574340403
NM_001130987.2(DYSF):c.4164C>G (p.Val1388=) rs2152875382
NM_001130987.2(DYSF):c.4167C>T (p.Ile1389=) rs2152875387
NM_001130987.2(DYSF):c.4170G>A (p.Arg1390=) rs746181078
NM_001130987.2(DYSF):c.4173C>A (p.Asn1391Lys)
NM_001130987.2(DYSF):c.4176C>T (p.Leu1392=) rs2152875405
NM_001130987.2(DYSF):c.4177del (p.Arg1393fs) rs2152875407
NM_001130987.2(DYSF):c.4178G>A (p.Arg1393Gln)
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.417T>G (p.Pro139=)
NM_001130987.2(DYSF):c.4185C>T (p.Asn1395=)
NM_001130987.2(DYSF):c.4188del (p.Asn1397fs)
NM_001130987.2(DYSF):c.4191C>T (p.Asn1397=)
NM_001130987.2(DYSF):c.4193T>C (p.Phe1398Ser) rs2093763492
NM_001130987.2(DYSF):c.4197C>T (p.Asp1399=)
NM_001130987.2(DYSF):c.4200C>T (p.Ile1400=)
NM_001130987.2(DYSF):c.4203C>T (p.Cys1401=)
NM_001130987.2(DYSF):c.4206C>T (p.Thr1402=)
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) rs866823474
NM_001130987.2(DYSF):c.4218A>T (p.Glu1406Asp) rs764161356
NM_001130987.2(DYSF):c.4219G>A (p.Val1407Met)
NM_001130987.2(DYSF):c.4221+18A>G
NM_001130987.2(DYSF):c.4221+1G>C rs1474151297
NM_001130987.2(DYSF):c.4221+1G>T
NM_001130987.2(DYSF):c.4221+1_4221+3del rs1189803641
NM_001130987.2(DYSF):c.4221+5del rs1574341049
NM_001130987.2(DYSF):c.4221+8C>T rs2152875508
NM_001130987.2(DYSF):c.4221+9C>T
NM_001130987.2(DYSF):c.4222-11C>G
NM_001130987.2(DYSF):c.4222-11C>T
NM_001130987.2(DYSF):c.4222-6A>T rs745775405
NM_001130987.2(DYSF):c.4228C>T (p.Pro1410Ser)
NM_001130987.2(DYSF):c.4238A>G (p.Glu1413Gly) rs2093790724
NM_001130987.2(DYSF):c.4239G>A (p.Glu1413=)
NM_001130987.2(DYSF):c.423G>A (p.Glu141=)
NM_001130987.2(DYSF):c.4242C>G (p.Leu1414=) rs952978128
NM_001130987.2(DYSF):c.4244A>C (p.Tyr1415Ser) rs775254512
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys) rs775254512
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe) rs775254512
NM_001130987.2(DYSF):c.4245C>T (p.Tyr1415=) rs2152876950
NM_001130987.2(DYSF):c.4247G>A (p.Cys1416Tyr)
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4248C>T (p.Cys1416=) rs971134497
NM_001130987.2(DYSF):c.4249C>G (p.Pro1417Ala) rs376134165
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.4254C>A (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4254C>G (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4263C>T (p.Val1421=) rs1368093680
NM_001130987.2(DYSF):c.4266G>T (p.Lys1422Asn)
NM_001130987.2(DYSF):c.4269C>T (p.Val1423=)
NM_001130987.2(DYSF):c.426C>G (p.Pro142=) rs2152728724
NM_001130987.2(DYSF):c.4272C>A (p.Ile1424=) rs1465648654
NM_001130987.2(DYSF):c.4272C>T (p.Ile1424=) rs1465648654
NM_001130987.2(DYSF):c.427T>A (p.Ser143Thr)
NM_001130987.2(DYSF):c.4280G>T (p.Arg1427Leu)
NM_001130987.2(DYSF):c.4281C>A (p.Arg1427=)
NM_001130987.2(DYSF):c.4284G>A (p.Gln1428=)
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del) rs765090357
NM_001130987.2(DYSF):c.4292G>C (p.Arg1431Pro)
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.4295G>T (p.Arg1432Leu) rs761337469
NM_001130987.2(DYSF):c.4296G>A (p.Arg1432=)
NM_001130987.2(DYSF):c.4308C>T (p.Gly1436=)
NM_001130987.2(DYSF):c.4317dup (p.Ile1440fs) rs1553383144
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu) rs139654844
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
NM_001130987.2(DYSF):c.4323C>A (p.Arg1441=) rs758538165
NM_001130987.2(DYSF):c.4325C>G (p.Ser1442Cys) rs1454165770
NM_001130987.2(DYSF):c.4325_4328dup (p.Glu1444fs)
NM_001130987.2(DYSF):c.4326C>T (p.Ser1442=)
NM_001130987.2(DYSF):c.4327C>T (p.Leu1443=)
NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs)
NM_001130987.2(DYSF):c.432G>C (p.Pro144=) rs542176164
NM_001130987.2(DYSF):c.432G>T (p.Pro144=) rs542176164
NM_001130987.2(DYSF):c.4331A>C (p.Glu1444Ala)
NM_001130987.2(DYSF):c.4335C>T (p.Ser1445=)
NM_001130987.2(DYSF):c.4339C>T (p.Leu1447=)
NM_001130987.2(DYSF):c.4344T>C (p.Cys1448=) rs2152877131
NM_001130987.2(DYSF):c.4344_4345del (p.Cys1448_Asp1449delinsTer)
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
NM_001130987.2(DYSF):c.4349C>A (p.Pro1450His)
NM_001130987.2(DYSF):c.4350C>T (p.Pro1450=) rs897596810
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser) rs757346544
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4354T>G (p.Ser1452Ala)
NM_001130987.2(DYSF):c.4362G>A (p.Glu1454=)
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu) rs1471848144
NM_001130987.2(DYSF):c.4368A>T (p.Pro1456=)
NM_001130987.2(DYSF):c.436C>T (p.Leu146=) rs1291278789
NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=) rs886043896
NM_001130987.2(DYSF):c.4377G>C (p.Gln1459His)
NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs)
NM_001130987.2(DYSF):c.4382_4383delinsTT (p.Gly1461Val)
NM_001130987.2(DYSF):c.4387+11G>C
NM_001130987.2(DYSF):c.4387+13dup
NM_001130987.2(DYSF):c.4387+15G>A
NM_001130987.2(DYSF):c.4387+16_4387+42del rs750290973
NM_001130987.2(DYSF):c.4387+1G>T rs2152877211
NM_001130987.2(DYSF):c.4387+20T>C
NM_001130987.2(DYSF):c.4387+2T>A rs759939755
NM_001130987.2(DYSF):c.4387+2T>G
NM_001130987.2(DYSF):c.4387+3_4387+28del rs1553383255
NM_001130987.2(DYSF):c.4387+8A>G rs2093795894
NM_001130987.2(DYSF):c.4388-12C>T
NM_001130987.2(DYSF):c.4388-13C>G
NM_001130987.2(DYSF):c.4388-15C>T
NM_001130987.2(DYSF):c.4388-16G>T
NM_001130987.2(DYSF):c.4388-17G>A rs1228239502
NM_001130987.2(DYSF):c.4388-5T>C
NM_001130987.2(DYSF):c.4388-7C>A rs1209019931
NM_001130987.2(DYSF):c.4388-7C>G
NM_001130987.2(DYSF):c.4388-9C>A
NM_001130987.2(DYSF):c.438G>A (p.Leu146=)
NM_001130987.2(DYSF):c.4390G>A (p.Asp1464Asn) rs927765259
NM_001130987.2(DYSF):c.4395G>C (p.Val1465=)
NM_001130987.2(DYSF):c.4399C>T (p.Leu1467=)
NM_001130987.2(DYSF):c.4401A>C (p.Leu1467=)
NM_001130987.2(DYSF):c.4401A>G (p.Leu1467=)
NM_001130987.2(DYSF):c.4401A>T (p.Leu1467=) rs2093810606
NM_001130987.2(DYSF):c.4404C>G (p.Leu1468=)
NM_001130987.2(DYSF):c.4404C>T (p.Leu1468=) rs745452114
NM_001130987.2(DYSF):c.440del (p.Pro147fs) rs2152728763
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs) rs1574354166
NM_001130987.2(DYSF):c.4419C>A (p.Asp1473Glu) rs374705038
NM_001130987.2(DYSF):c.441T>C (p.Pro147=) rs1553520415
NM_001130987.2(DYSF):c.4421T>C (p.Val1474Ala) rs1574354256
NM_001130987.2(DYSF):c.4426A>G (p.Ile1476Val)
NM_001130987.2(DYSF):c.4428C>G (p.Ile1476Met)
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4433T>G (p.Ile1478Ser)
NM_001130987.2(DYSF):c.4434_4435insTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCATCGACATT (p.Asp1479delinsPhePheXaaXaaXaaXaaPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2152878049
NM_001130987.2(DYSF):c.4437T>C (p.Asp1479=)
NM_001130987.2(DYSF):c.443A>G (p.Asp148Gly) rs113919086
NM_001130987.2(DYSF):c.4440C>T (p.Asp1480=)
NM_001130987.2(DYSF):c.4443G>A (p.Lys1481=) rs2152878085
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) rs1574354515
NM_001130987.2(DYSF):c.4445A>G (p.Glu1482Gly) rs2093811879
NM_001130987.2(DYSF):c.4446G>A (p.Glu1482=) rs1463408383
NM_001130987.2(DYSF):c.4447C>T (p.Pro1483Ser) rs2152878098
NM_001130987.2(DYSF):c.4449C>G (p.Pro1483=)
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=) rs1476328093
NM_001130987.2(DYSF):c.4455C>T (p.Ile1485=)
NM_001130987.2(DYSF):c.4458C>T (p.Pro1486=) rs777688424
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4464+10G>A
NM_001130987.2(DYSF):c.4464+17C>T
NM_001130987.2(DYSF):c.4465-1G>A rs1553389041
NM_001130987.2(DYSF):c.4465-283C>T rs114171096
NM_001130987.2(DYSF):c.4478_4481dup (p.Ser1495fs) rs1553389065
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs) rs1553389118
NM_001130987.2(DYSF):c.4528-16C>T
NM_001130987.2(DYSF):c.4528-2A>T
NM_001130987.2(DYSF):c.4528-2del
NM_001130987.2(DYSF):c.4528-4T>C rs2152924642
NM_001130987.2(DYSF):c.4528-5C>G rs774448845
NM_001130987.2(DYSF):c.4528-7C>G rs2152924630
NM_001130987.2(DYSF):c.4528-7C>T
NM_001130987.2(DYSF):c.4528-8C>T rs776766700
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) rs562261472
NM_001130987.2(DYSF):c.4536G>A (p.Glu1512=)
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
NM_001130987.2(DYSF):c.4547G>C (p.Trp1516Ser) rs755781770
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4554C>T (p.Ser1518=)
NM_001130987.2(DYSF):c.4554del (p.Ser1518fs) rs2152924667
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr) rs398123788
NM_001130987.2(DYSF):c.4556A>T (p.Lys1519Ile)
NM_001130987.2(DYSF):c.4557A>G (p.Lys1519=) rs2094528367
NM_001130987.2(DYSF):c.4560C>A (p.Phe1520Leu) rs544993852
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) rs1572921644
NM_001130987.2(DYSF):c.456G>A (p.Val152=) rs2152728786
NM_001130987.2(DYSF):c.4571T>C (p.Ile1524Thr)
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001130987.2(DYSF):c.4585A>G (p.Lys1529Glu)
NM_001130987.2(DYSF):c.4586del (p.Lys1529fs)
NM_001130987.2(DYSF):c.458C>G (p.Ala153Gly)
NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter) rs778185705
NM_001130987.2(DYSF):c.4592G>C (p.Gly1531Ala)
NM_001130987.2(DYSF):c.4593C>T (p.Gly1531=)
NM_001130987.2(DYSF):c.4597T>A (p.Tyr1533Asn)
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
NM_001130987.2(DYSF):c.45G>A (p.Ala15=) rs972675695
NM_001130987.2(DYSF):c.460+17G>A rs115170960
NM_001130987.2(DYSF):c.460+18G>A
NM_001130987.2(DYSF):c.460+20C>T
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001130987.2(DYSF):c.460+2_460+3del
NM_001130987.2(DYSF):c.460+6T>G rs756102619
NM_001130987.2(DYSF):c.460+9C>T rs1052225757
NM_001130987.2(DYSF):c.460G>C (p.Gly154Arg)
NM_001130987.2(DYSF):c.461-1G>A rs1553520795
NM_001130987.2(DYSF):c.4613T>C (p.Phe1538Ser)
NM_001130987.2(DYSF):c.4614del (p.Phe1538fs) rs886042578
NM_001130987.2(DYSF):c.4619C>A (p.Thr1540Asn) rs200809348
NM_001130987.2(DYSF):c.4619C>T (p.Thr1540Ile)
NM_001130987.2(DYSF):c.4620C>A (p.Thr1540=)
NM_001130987.2(DYSF):c.4620C>T (p.Thr1540=) rs775749086
NM_001130987.2(DYSF):c.4621del (p.Thr1540_Leu1541insTer)
NM_001130987.2(DYSF):c.4622T>C (p.Leu1541Pro)
NM_001130987.2(DYSF):c.4626+10C>T rs1420815050
NM_001130987.2(DYSF):c.4626+11T>A
NM_001130987.2(DYSF):c.4626+11T>C
NM_001130987.2(DYSF):c.4626+15C>T
NM_001130987.2(DYSF):c.4626+16A>G
NM_001130987.2(DYSF):c.4626+1G>A rs1558708492
NM_001130987.2(DYSF):c.4626+9T>A
NM_001130987.2(DYSF):c.4627-10T>G
NM_001130987.2(DYSF):c.4627-11A>G
NM_001130987.2(DYSF):c.4627-12del
NM_001130987.2(DYSF):c.4627-13C>T
NM_001130987.2(DYSF):c.4627-14C>A
NM_001130987.2(DYSF):c.4627-14C>G
NM_001130987.2(DYSF):c.4627-14C>T rs2152937613
NM_001130987.2(DYSF):c.4627-18A>G
NM_001130987.2(DYSF):c.4627-249CTC[2] rs200480953
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro) rs2094765878
NM_001130987.2(DYSF):c.4636A>G (p.Thr1546Ala)
NM_001130987.2(DYSF):c.4639C>T (p.Gln1547Ter)
NM_001130987.2(DYSF):c.4642C>A (p.Leu1548Met) rs2152937667
NM_001130987.2(DYSF):c.4643T>G (p.Leu1548Arg)
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
NM_001130987.2(DYSF):c.4650T>C (p.Asn1550=) rs756403845
NM_001130987.2(DYSF):c.4651G>A (p.Val1551Met) rs2094766224
NM_001130987.2(DYSF):c.4658C>A (p.Ala1553Asp) rs2094766394
NM_001130987.2(DYSF):c.4659C>T (p.Ala1553=)
NM_001130987.2(DYSF):c.4665G>A (p.Glu1555=)
NM_001130987.2(DYSF):c.4669C>T (p.Leu1557=)
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4671G>C (p.Leu1557=)
NM_001130987.2(DYSF):c.4680T>C (p.Phe1560=) rs2152937726
NM_001130987.2(DYSF):c.4680_4681del (p.Phe1560fs)
NM_001130987.2(DYSF):c.4681T>G (p.Cys1561Gly)
NM_001130987.2(DYSF):c.4682G>C (p.Cys1561Ser) rs2152937732
NM_001130987.2(DYSF):c.4689C>G (p.Thr1563=)
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.4698G>A (p.Leu1566=) rs1386985520
NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del) rs1553501109
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.4703G>A (p.Arg1568Gln)
NM_001130987.2(DYSF):c.4704G>A (p.Arg1568=) rs2094767418
NM_001130987.2(DYSF):c.4706del (p.Gly1569fs)
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro) rs751126464
NM_001130987.2(DYSF):c.4719G>A (p.Glu1573=) rs2094767863
NM_001130987.2(DYSF):c.4725A>G (p.Thr1575=)
NM_001130987.2(DYSF):c.4731T>C (p.Asp1577=)
NM_001130987.2(DYSF):c.4737T>C (p.Ser1579=)
NM_001130987.2(DYSF):c.4755+11G>A
NM_001130987.2(DYSF):c.4755+12A>G
NM_001130987.2(DYSF):c.4755+16C>T
NM_001130987.2(DYSF):c.4755+17G>A
NM_001130987.2(DYSF):c.4755+1G>A
NM_001130987.2(DYSF):c.4755+20C>T
NM_001130987.2(DYSF):c.4755+5A>C rs2094768502
NM_001130987.2(DYSF):c.4755+6T>C rs778837009
NM_001130987.2(DYSF):c.4755+7C>A
NM_001130987.2(DYSF):c.4755+8C>A
NM_001130987.2(DYSF):c.4756-12C>T
NM_001130987.2(DYSF):c.4756-16C>T
NM_001130987.2(DYSF):c.4756-17C>A
NM_001130987.2(DYSF):c.4756-17C>G
NM_001130987.2(DYSF):c.4756-17C>T
NM_001130987.2(DYSF):c.4756-19A>C
NM_001130987.2(DYSF):c.4756-1G>A rs2152940909
NM_001130987.2(DYSF):c.4756-8C>G rs866888887
NM_001130987.2(DYSF):c.4756-8C>T rs866888887
NM_001130987.2(DYSF):c.4765A>G (p.Lys1589Glu) rs2094826436
NM_001130987.2(DYSF):c.4768A>G (p.Ile1590Val)
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs) rs1179051248
NM_001130987.2(DYSF):c.4774C>T (p.Pro1592Ser) rs1406317660
NM_001130987.2(DYSF):c.4775C>G (p.Pro1592Arg)
NM_001130987.2(DYSF):c.4776C>A (p.Pro1592=) rs2094826612
NM_001130987.2(DYSF):c.4776C>T (p.Pro1592=)
NM_001130987.2(DYSF):c.4777C>T (p.Leu1593Phe)
NM_001130987.2(DYSF):c.4779C>T (p.Leu1593=) rs1573009267
NM_001130987.2(DYSF):c.4788C>G (p.Asp1596Glu)
NM_001130987.2(DYSF):c.4794C>T (p.Ala1598=) rs2152940963
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs) rs2152940961
NM_001130987.2(DYSF):c.4798C>G (p.Pro1600Ala)
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val) rs768130248
NM_001130987.2(DYSF):c.4801A>T (p.Met1601Leu) rs768130248
NM_001130987.2(DYSF):c.4806C>A (p.Pro1602=)
NM_001130987.2(DYSF):c.4808C>T (p.Pro1603Leu) rs2094827462
NM_001130987.2(DYSF):c.4809A>C (p.Pro1603=)
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.4814A>T (p.Gln1605Leu)
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr) rs1298041271
NM_001130987.2(DYSF):c.4821C>A (p.His1607Gln)
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.4827G>A (p.Leu1609=) rs2152941036
NM_001130987.2(DYSF):c.4836G>A (p.Gln1612=) rs2094828072
NM_001130987.2(DYSF):c.4838G>A (p.Gly1613Glu)
NM_001130987.2(DYSF):c.4839A>C (p.Gly1613=) rs2094828104
NM_001130987.2(DYSF):c.4841C>G (p.Pro1614Arg) rs2152941060
NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter) rs1163488527
NM_001130987.2(DYSF):c.4844A>G (p.Gln1615Arg)
NM_001130987.2(DYSF):c.4848del (p.Glu1616fs) rs2152941075
NM_001130987.2(DYSF):c.4858C>G (p.Arg1620Gly) rs752946123
NM_001130987.2(DYSF):c.4859G>T (p.Arg1620Leu)
NM_001130987.2(DYSF):c.4860T>C (p.Arg1620=) rs2152941080
NM_001130987.2(DYSF):c.4862del (p.Ile1621fs)
NM_001130987.2(DYSF):c.4865A>G (p.Tyr1622Cys) rs797045541
NM_001130987.2(DYSF):c.4883G>A (p.Gly1628Asp)
NM_001130987.2(DYSF):c.4884C>T (p.Gly1628=)
NM_001130987.2(DYSF):c.4886T>C (p.Leu1629Pro)
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) rs2094828804
NM_001130987.2(DYSF):c.4893C>G (p.Pro1631=) rs2152941108
NM_001130987.2(DYSF):c.4894A>G (p.Lys1632Glu)
NM_001130987.2(DYSF):c.4896G>A (p.Lys1632=)
NM_001130987.2(DYSF):c.4902C>A (p.Pro1634=) rs2152941119
NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter) rs1558750788
NM_001130987.2(DYSF):c.4911+11T>C
NM_001130987.2(DYSF):c.4911+14A>G
NM_001130987.2(DYSF):c.4911+14A>T
NM_001130987.2(DYSF):c.4911+15G>A
NM_001130987.2(DYSF):c.4911+5C>A rs971480261
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.4911G>C (p.Lys1637Asn)
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4912-12C>T rs2152943150
NM_001130987.2(DYSF):c.4912-7C>T
NM_001130987.2(DYSF):c.4912-8T>A rs2152943167
NM_001130987.2(DYSF):c.4918C>T (p.Pro1640Ser)
NM_001130987.2(DYSF):c.4920T>G (p.Pro1640=) rs2152943187
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
NM_001130987.2(DYSF):c.4924A>G (p.Ile1642Val)
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs) rs1057516051
NM_001130987.2(DYSF):c.4950A>C (p.Ser1650=)
NM_001130987.2(DYSF):c.4952T>C (p.Val1651Ala) rs2152943225
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs) rs772270346
NM_001130987.2(DYSF):c.4961A>G (p.Gln1654Arg) rs2094861025
NM_001130987.2(DYSF):c.4969del (p.Tyr1657fs)
NM_001130987.2(DYSF):c.4974C>A (p.Ile1658=) rs113744167
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs2094861411
NM_001130987.2(DYSF):c.4982C>A (p.Thr1661Lys) rs144383140
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=) rs963646326
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.4995A>G (p.Val1665=)
NM_001130987.2(DYSF):c.4997T>C (p.Phe1666Ser) rs1553410562
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs868779799
NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val) rs1573020369
NM_001130987.2(DYSF):c.5003+1055T>A rs139080832
NM_001130987.2(DYSF):c.5003+11G>A
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5003+1375C>G rs3791826
NM_001130987.2(DYSF):c.5003+18G>C
NM_001130987.2(DYSF):c.5003+18G>T
NM_001130987.2(DYSF):c.5003+197C>T rs75750524
NM_001130987.2(DYSF):c.5003+19G>T
NM_001130987.2(DYSF):c.5003+20G>C
NM_001130987.2(DYSF):c.5003+6T>C
NM_001130987.2(DYSF):c.5003+9G>A rs2152943335
NM_001130987.2(DYSF):c.5004-10C>T rs749888904
NM_001130987.2(DYSF):c.5004-11C>A
NM_001130987.2(DYSF):c.5004-11C>T
NM_001130987.2(DYSF):c.5004-13G>C
NM_001130987.2(DYSF):c.5004-160C>T rs116621672
NM_001130987.2(DYSF):c.5004-19G>A
NM_001130987.2(DYSF):c.5004-1G>A rs886043170
NM_001130987.2(DYSF):c.5004-20G>A
NM_001130987.2(DYSF):c.5004-20G>C
NM_001130987.2(DYSF):c.5004-2A>G rs2094956322
NM_001130987.2(DYSF):c.5004-5T>G
NM_001130987.2(DYSF):c.5004-6C>T
NM_001130987.2(DYSF):c.5004-7C>T rs2094956144
NM_001130987.2(DYSF):c.5004-9C>T
NM_001130987.2(DYSF):c.5007G>A (p.Met1669Ile)
NM_001130987.2(DYSF):c.5011G>T (p.Glu1671Ter) rs398123790
NM_001130987.2(DYSF):c.5013G>A (p.Glu1671=)
NM_001130987.2(DYSF):c.5016G>C (p.Leu1672=)
NM_001130987.2(DYSF):c.5016G>T (p.Leu1672=) rs2152950660
NM_001130987.2(DYSF):c.5025_5053dup (p.Thr1685delinsIleCysLeuTrpArgArgThrTer) rs2152950672
NM_001130987.2(DYSF):c.5040G>A (p.Lys1680=) rs773321086
NM_001130987.2(DYSF):c.5040G>T (p.Lys1680Asn)
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
NM_001130987.2(DYSF):c.5056C>T (p.Leu1686Phe)
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643
NM_001130987.2(DYSF):c.5061T>C (p.Tyr1687=)
NM_001130987.2(DYSF):c.5061T>G (p.Tyr1687Ter)
NM_001130987.2(DYSF):c.5071CTC[1] (p.Leu1692del) rs1163037004
NM_001130987.2(DYSF):c.5073C>T (p.Leu1691=)
NM_001130987.2(DYSF):c.5074C>T (p.Leu1692Phe)
NM_001130987.2(DYSF):c.5076C>T (p.Leu1692=) rs2152950734
NM_001130987.2(DYSF):c.5078C>T (p.Ser1693Phe)
NM_001130987.2(DYSF):c.5085_5089dup (p.Lys1697fs) rs2152950744
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter) rs368142107
NM_001130987.2(DYSF):c.5094C>A (p.Ile1698=) rs149087116
NM_001130987.2(DYSF):c.5095G>T (p.Gly1699Cys)
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)
NM_001130987.2(DYSF):c.5100G>A (p.Glu1700=) rs2094957769
NM_001130987.2(DYSF):c.5105TCG[1] (p.Val1703del)
NM_001130987.2(DYSF):c.5106C>G (p.Val1702=)
NM_001130987.2(DYSF):c.5113C>T (p.Leu1705=) rs940927932
NM_001130987.2(DYSF):c.5124G>A (p.Arg1708=)
NM_001130987.2(DYSF):c.5127G>A (p.Leu1709=)
NM_001130987.2(DYSF):c.5130G>A (p.Leu1710=) rs768652010
NM_001130987.2(DYSF):c.5130G>C (p.Leu1710=) rs768652010
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.5149T>C (p.Cys1717Arg)
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr) rs753279446
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5156_5174+4dup rs786205082
NM_001130987.2(DYSF):c.5160A>G (p.Pro1720=) rs2152950858
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
NM_001130987.2(DYSF):c.5169C>A (p.Tyr1723Ter)
NM_001130987.2(DYSF):c.5171G>A (p.Cys1724Tyr) rs777984362
NM_001130987.2(DYSF):c.5171G>C (p.Cys1724Ser)
NM_001130987.2(DYSF):c.5174+11G>A
NM_001130987.2(DYSF):c.5174+14G>A
NM_001130987.2(DYSF):c.5174+14G>C
NM_001130987.2(DYSF):c.5174+15dup
NM_001130987.2(DYSF):c.5174+16C>T
NM_001130987.2(DYSF):c.5174+1G>A rs886042581
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5174+5G>T rs745891180
NM_001130987.2(DYSF):c.5174+6_5174+7dup rs1553412837
NM_001130987.2(DYSF):c.5174+7G>C
NM_001130987.2(DYSF):c.5174+8G>A rs1573054048
NM_001130987.2(DYSF):c.5174+9A>T rs2152950897
NM_001130987.2(DYSF):c.5175-12C>T
NM_001130987.2(DYSF):c.5175-15G>A
NM_001130987.2(DYSF):c.5175-16T>G
NM_001130987.2(DYSF):c.5175-2A>G
NM_001130987.2(DYSF):c.5175-8C>A rs1422813382
NM_001130987.2(DYSF):c.5175-8C>T rs1422813382
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro) rs1573060017
NM_001130987.2(DYSF):c.5178T>C (p.Ser1726=)
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)
NM_001130987.2(DYSF):c.5190G>A (p.Gln1730=) rs2152951711
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
NM_001130987.2(DYSF):c.5194C>A (p.Arg1732=)
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
NM_001130987.2(DYSF):c.5196G>A (p.Arg1732=) rs2152951718
NM_001130987.2(DYSF):c.5199C>A (p.Asp1733Glu) rs2094973647
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5202G>C (p.Gln1734His) rs749455148
NM_001130987.2(DYSF):c.5205C>T (p.Leu1735=)
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg) rs776452710
NM_001130987.2(DYSF):c.5211del (p.Ser1738fs) rs2152951747
NM_001130987.2(DYSF):c.5220C>T (p.Leu1740=)
NM_001130987.2(DYSF):c.5221C>T (p.Leu1741Phe)
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.5227C>T (p.Leu1743Phe) rs575920691
NM_001130987.2(DYSF):c.5241G>A (p.Gln1747=) rs2152951794
NM_001130987.2(DYSF):c.5247A>G (p.Arg1749=) rs750877853
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
NM_001130987.2(DYSF):c.5250C>T (p.Val1750=) rs1573061231
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) rs2094975129
NM_001130987.2(DYSF):c.5251_5258del (p.Lys1751fs) rs2152951812
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
NM_001130987.2(DYSF):c.5256A>G (p.Ala1752=)
NM_001130987.2(DYSF):c.5259T>A (p.Pro1753=)
NM_001130987.2(DYSF):c.5261T>G (p.Val1754Gly)
NM_001130987.2(DYSF):c.5262G>A (p.Val1754=) rs1382463044
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
NM_001130987.2(DYSF):c.526T>G (p.Ser176Ala)
NM_001130987.2(DYSF):c.5291A>G (p.Asp1764Gly)
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
NM_001130987.2(DYSF):c.5296G>C (p.Glu1766Gln) rs2094975881
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) rs2094975881
NM_001130987.2(DYSF):c.5298del (p.Glu1766fs) rs2152951851
NM_001130987.2(DYSF):c.5301T>C (p.Tyr1767=)
NM_001130987.2(DYSF):c.5304C>T (p.Ser1768=) rs748704263
NM_001130987.2(DYSF):c.5306T>C (p.Ile1769Thr) rs886042493
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) rs2094976185
NM_001130987.2(DYSF):c.5310A>G (p.Glu1770=) rs774051571
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001130987.2(DYSF):c.5317+10C>T
NM_001130987.2(DYSF):c.5317+13A>G
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5317+20C>T
NM_001130987.2(DYSF):c.5317+20del rs573369323
NM_001130987.2(DYSF):c.5317+34C>T rs187779994
NM_001130987.2(DYSF):c.5317+9C>T
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs2094976441
NM_001130987.2(DYSF):c.5318-13C>G
NM_001130987.2(DYSF):c.5318-18G>A
NM_001130987.2(DYSF):c.5318-3C>T rs2152953913
NM_001130987.2(DYSF):c.5318-6G>T rs2152953906
NM_001130987.2(DYSF):c.5318-76_5318-44del
NM_001130987.2(DYSF):c.5318-8del rs2152953900
NM_001130987.2(DYSF):c.5318-9C>T rs2152953894
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) rs121908961
NM_001130987.2(DYSF):c.5325C>G (p.Gly1775=)
NM_001130987.2(DYSF):c.5331C>T (p.Ile1777=) rs2152953932
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser) rs1573078295
NM_001130987.2(DYSF):c.5339C>T (p.Pro1780Leu) rs2095034360
NM_001130987.2(DYSF):c.5341C>T (p.His1781Tyr) rs776911222
NM_001130987.2(DYSF):c.5347G>A (p.Gly1783Ser) rs759748127
NM_001130987.2(DYSF):c.5349C>T (p.Gly1783=)
NM_001130987.2(DYSF):c.5352A>G (p.Pro1784=) rs1422915675
NM_001130987.2(DYSF):c.5371C>T (p.Leu1791=)
NM_001130987.2(DYSF):c.5374C>T (p.His1792Tyr)
NM_001130987.2(DYSF):c.5375A>G (p.His1792Arg)
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala) rs753644501
NM_001130987.2(DYSF):c.5379G>A (p.Val1793=)
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.5388G>A (p.Gln1796=) rs2152954008
NM_001130987.2(DYSF):c.5389C>T (p.Gln1797Ter)
NM_001130987.2(DYSF):c.5400C>T (p.Val1800=) rs2152954016
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) rs2095035479
NM_001130987.2(DYSF):c.5406G>C (p.Glu1802Asp)
NM_001130987.2(DYSF):c.5408A>G (p.His1803Arg) rs1558778744
NM_001130987.2(DYSF):c.5409C>G (p.His1803Gln) rs375787986
NM_001130987.2(DYSF):c.5412G>A (p.Val1804=)
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
NM_001130987.2(DYSF):c.5415G>A (p.Glu1805=) rs776985747
NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)
NM_001130987.2(DYSF):c.5421G>C (p.Arg1807=) rs1379550901
NM_001130987.2(DYSF):c.5436C>T (p.Pro1812=) rs1378250569
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5438T>A (p.Leu1813Gln)
NM_001130987.2(DYSF):c.5439G>A (p.Leu1813=)
NM_001130987.2(DYSF):c.5440C>T (p.Gln1814Ter)
NM_001130987.2(DYSF):c.5446G>A (p.Asp1816Asn) rs2152954089
NM_001130987.2(DYSF):c.5450T>C (p.Ile1817Thr) rs753632964
NM_001130987.2(DYSF):c.5457+10T>G
NM_001130987.2(DYSF):c.5457+11G>A
NM_001130987.2(DYSF):c.5457+14C>G rs746503236
NM_001130987.2(DYSF):c.5457+14C>T
NM_001130987.2(DYSF):c.5457+17T>A
NM_001130987.2(DYSF):c.5457+19G>A
NM_001130987.2(DYSF):c.5457+1G>A rs1553414413
NM_001130987.2(DYSF):c.5457+8C>T rs2152954128
NM_001130987.2(DYSF):c.5457+9T>A rs2152954132
NM_001130987.2(DYSF):c.5458-10G>A rs1340953942
NM_001130987.2(DYSF):c.5458-11T>G
NM_001130987.2(DYSF):c.5458-13C>G
NM_001130987.2(DYSF):c.5458-13C>T
NM_001130987.2(DYSF):c.5458-18C>T
NM_001130987.2(DYSF):c.5458-2A>G
NM_001130987.2(DYSF):c.5458-4G>A rs749655069
NM_001130987.2(DYSF):c.5458-4G>T rs749655069
NM_001130987.2(DYSF):c.5458-5C>G
NM_001130987.2(DYSF):c.5459G>A (p.Gly1820Glu) rs886042341
NM_001130987.2(DYSF):c.5459G>T (p.Gly1820Val)
NM_001130987.2(DYSF):c.5460G>C (p.Gly1820=)
NM_001130987.2(DYSF):c.5460G>T (p.Gly1820=)
NM_001130987.2(DYSF):c.5466G>A (p.Leu1822=) rs1252182958
NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter) rs1553415109
NM_001130987.2(DYSF):c.5468A>G (p.Gln1823Arg)
NM_001130987.2(DYSF):c.5474G>A (p.Trp1825Ter) rs754613733
NM_001130987.2(DYSF):c.5475G>T (p.Trp1825Cys)
NM_001130987.2(DYSF):c.5481C>T (p.Asp1827=)
NM_001130987.2(DYSF):c.5483T>A (p.Leu1828Gln)
NM_001130987.2(DYSF):c.5486T>C (p.Phe1829Ser)
NM_001130987.2(DYSF):c.5496C>T (p.Ala1832=)
NM_001130987.2(DYSF):c.5501G>T (p.Gly1834Val) rs994023902
NM_001130987.2(DYSF):c.5502G>A (p.Gly1834=)
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
NM_001130987.2(DYSF):c.5505G>A (p.Arg1835=) rs763758260
NM_001130987.2(DYSF):c.5508T>C (p.Pro1836=) rs1286326701
NM_001130987.2(DYSF):c.5511A>G (p.Gly1837=) rs1573091416
NM_001130987.2(DYSF):c.5514_5515insA (p.Pro1839fs) rs2152955557
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) rs1558783870
NM_001130987.2(DYSF):c.5517C>T (p.Pro1839=) rs1454018550
NM_001130987.2(DYSF):c.5531del (p.Pro1844fs) rs1553415211
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs) rs1553415211
NM_001130987.2(DYSF):c.554-12C>T
NM_001130987.2(DYSF):c.554-3T>C
NM_001130987.2(DYSF):c.554-4T>C
NM_001130987.2(DYSF):c.554-5C>A
NM_001130987.2(DYSF):c.554-7C>T rs2152731653
NM_001130987.2(DYSF):c.5540C>T (p.Ala1847Val) rs1436866611
NM_001130987.2(DYSF):c.5546+10C>G
NM_001130987.2(DYSF):c.5546+12A>G
NM_001130987.2(DYSF):c.5546+14C>T
NM_001130987.2(DYSF):c.5546+15C>T
NM_001130987.2(DYSF):c.5546+18A>G
NM_001130987.2(DYSF):c.5546+19G>C
NM_001130987.2(DYSF):c.5546+1G>A rs398123793
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.5546+7T>C rs1573092033
NM_001130987.2(DYSF):c.5546+7del
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5547-10C>T
NM_001130987.2(DYSF):c.5547-13T>C rs2152955889
NM_001130987.2(DYSF):c.5547-14A>T rs2152955887
NM_001130987.2(DYSF):c.5547-17G>C
NM_001130987.2(DYSF):c.5547-18A>C
NM_001130987.2(DYSF):c.5547-1G>C rs1573094617
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001130987.2(DYSF):c.5547-4C>A
NM_001130987.2(DYSF):c.5547-5C>T
NM_001130987.2(DYSF):c.5559T>C (p.Arg1853=) rs2152955921
NM_001130987.2(DYSF):c.555C>T (p.Asp185=) rs978264910
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.5563del (p.Ile1855fs)
NM_001130987.2(DYSF):c.5565T>C (p.Ile1855=) rs1421293535
NM_001130987.2(DYSF):c.556A>G (p.Thr186Ala) rs977005248
NM_001130987.2(DYSF):c.5571G>A (p.Trp1857Ter) rs1573094789
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) rs1573094789
NM_001130987.2(DYSF):c.5572A>T (p.Asn1858Tyr)
NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter) rs2152955939
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala) rs886043339
NM_001130987.2(DYSF):c.5585T>G (p.Val1862Gly)
NM_001130987.2(DYSF):c.5586G>C (p.Val1862=) rs781377361
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln) rs768704227
NM_001130987.2(DYSF):c.559G>C (p.Gly187Arg)
NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp) rs931174858
NM_001130987.2(DYSF):c.5601G>C (p.Leu1867=)
NM_001130987.2(DYSF):c.5608A>T (p.Thr1870Ser)
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.5610G>C (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.5610G>T (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.5611G>A (p.Gly1871Arg)
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter) rs201592500
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) rs2095073059
NM_001130987.2(DYSF):c.561A>T (p.Gly187=)
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val) rs1553415622
NM_001130987.2(DYSF):c.5621del (p.Met1874fs) rs2152956005
NM_001130987.2(DYSF):c.5624G>A (p.Ser1875Asn)
NM_001130987.2(DYSF):c.5626G>C (p.Asp1876His)
NM_001130987.2(DYSF):c.5634T>C (p.Tyr1878=)
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met) rs886042880
NM_001130987.2(DYSF):c.5635del (p.Tyr1878_Val1879insTer)
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) rs1320752132
NM_001130987.2(DYSF):c.5642+14G>C rs377398673
NM_001130987.2(DYSF):c.5642+16C>T
NM_001130987.2(DYSF):c.5642+17C>A
NM_001130987.2(DYSF):c.5642+17C>T
NM_001130987.2(DYSF):c.5642+19C>T
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5642+2T>A
NM_001130987.2(DYSF):c.5642+3A>G
NM_001130987.2(DYSF):c.5642+3dup rs1341734203
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.5642_5642+12del
NM_001130987.2(DYSF):c.5643-10G>T
NM_001130987.2(DYSF):c.5643-11T>C
NM_001130987.2(DYSF):c.5643-15A>G
NM_001130987.2(DYSF):c.5643-16A>C
NM_001130987.2(DYSF):c.5643-19T>C
NM_001130987.2(DYSF):c.5643-2A>C
NM_001130987.2(DYSF):c.5643-7T>G rs1553416025
NM_001130987.2(DYSF):c.5643-8A>G rs2152956498
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5651T>C (p.Ile1884Thr)
NM_001130987.2(DYSF):c.5656T>A (p.Phe1886Ile)
NM_001130987.2(DYSF):c.5671C>T (p.Gln1891Ter) rs2152956531
NM_001130987.2(DYSF):c.567G>A (p.Glu189=)
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val) rs1553416071
NM_001130987.2(DYSF):c.5684T>A (p.Val1895Glu)
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.5697C>T (p.Ser1899=) rs576040501
NM_001130987.2(DYSF):c.5702G>C (p.Gly1901Ala)
NM_001130987.2(DYSF):c.5703A>T (p.Gly1901=) rs745544823
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.5712C>G (p.Gly1904=)
NM_001130987.2(DYSF):c.5713A>G (p.Asn1905Asp) rs2152956597
NM_001130987.2(DYSF):c.5716T>A (p.Phe1906Ile) rs1558787823
NM_001130987.2(DYSF):c.5718C>A (p.Phe1906Leu) rs1233961202
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001130987.2(DYSF):c.5718C>T (p.Phe1906=) rs1233961202
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp)
NM_001130987.2(DYSF):c.5722T>C (p.Trp1908Arg) rs2152956607
NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter) rs1558787893
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5727G>A (p.Arg1909=)
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5729T>C (p.Phe1910Ser) rs2095084796
NM_001130987.2(DYSF):c.5730C>T (p.Phe1910=)
NM_001130987.2(DYSF):c.5733T>A (p.Ile1911=) rs775192916
NM_001130987.2(DYSF):c.5736C>G (p.Phe1912Leu) rs2152956624
NM_001130987.2(DYSF):c.5737C>G (p.Pro1913Ala) rs1257277890
NM_001130987.2(DYSF):c.5739C>G (p.Pro1913=) rs763546773
NM_001130987.2(DYSF):c.5743dup (p.Asp1915fs)
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5753C>T (p.Pro1918Leu)
NM_001130987.2(DYSF):c.5756C>G (p.Ala1919Gly)
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
NM_001130987.2(DYSF):c.5763del (p.Val1922fs) rs1553416197
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe) rs886044130
NM_001130987.2(DYSF):c.5769T>C (p.Cys1923=) rs2152956665
NM_001130987.2(DYSF):c.576A>G (p.Thr192=) rs2152731702
NM_001130987.2(DYSF):c.5771C>T (p.Thr1924Ile) rs2095085566
NM_001130987.2(DYSF):c.5777C>A (p.Ala1926Asp)
NM_001130987.2(DYSF):c.5778C>T (p.Ala1926=)
NM_001130987.2(DYSF):c.5784+10C>T rs758268866
NM_001130987.2(DYSF):c.5784+13C>A
NM_001130987.2(DYSF):c.5784+14C>T
NM_001130987.2(DYSF):c.5784+15G>A
NM_001130987.2(DYSF):c.5784+15G>T
NM_001130987.2(DYSF):c.5784+20C>A
NM_001130987.2(DYSF):c.5784+5G>A
NM_001130987.2(DYSF):c.5784+7G>A rs2152956677
NM_001130987.2(DYSF):c.5784+8T>C rs1558788338
NM_001130987.2(DYSF):c.5784+9C>G
NM_001130987.2(DYSF):c.5785-12C>T
NM_001130987.2(DYSF):c.5785-14C>T
NM_001130987.2(DYSF):c.5785-15C>A
NM_001130987.2(DYSF):c.5785-16T>C
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-20C>G
NM_001130987.2(DYSF):c.5785-2A>C rs2152961243
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5785-9C>G
NM_001130987.2(DYSF):c.5785-9C>T rs573892877
NM_001130987.2(DYSF):c.5789C>A (p.Ala1930Asp)
NM_001130987.2(DYSF):c.5789C>G (p.Ala1930Gly) rs1346535569
NM_001130987.2(DYSF):c.5789C>T (p.Ala1930Val) rs1346535569
NM_001130987.2(DYSF):c.578_579del (p.Glu193fs)
NM_001130987.2(DYSF):c.5796G>A (p.Trp1932Ter) rs267599442
NM_001130987.2(DYSF):c.579G>A (p.Glu193=) rs2152731712
NM_001130987.2(DYSF):c.5802G>A (p.Leu1934=) rs767335937
NM_001130987.2(DYSF):c.5811T>A (p.Thr1937=) rs1558800137
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5823C>T (p.Ile1941=) rs2152961305
NM_001130987.2(DYSF):c.5830_5843del (p.Arg1944fs)
NM_001130987.2(DYSF):c.5831G>C (p.Arg1944Pro)
NM_001130987.2(DYSF):c.5835G>A (p.Val1945=)
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter) rs1573138313
NM_001130987.2(DYSF):c.5843del (p.Gln1948fs)
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter) rs2152961374
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) rs1573138336
NM_001130987.2(DYSF):c.5853C>A (p.Asp1951Glu) rs773560454
NM_001130987.2(DYSF):c.5856T>C (p.Asn1952=) rs2152961391
NM_001130987.2(DYSF):c.5858A>G (p.Asp1953Gly)
NM_001130987.2(DYSF):c.5860A>G (p.Lys1954Glu)
NM_001130987.2(DYSF):c.5861del (p.Lys1954fs)
NM_001130987.2(DYSF):c.5862G>A (p.Lys1954=) rs903493685
NM_001130987.2(DYSF):c.5865C>T (p.Phe1955=)
NM_001130987.2(DYSF):c.5871del (p.Phe1957fs)
NM_001130987.2(DYSF):c.5874T>C (p.Asp1958=) rs750860886
NM_001130987.2(DYSF):c.5876A>G (p.Asp1959Gly) rs2152961436
NM_001130987.2(DYSF):c.587G>A (p.Gly196Glu)
NM_001130987.2(DYSF):c.5880T>C (p.Phe1960=)
NM_001130987.2(DYSF):c.5884+12T>A
NM_001130987.2(DYSF):c.5884+16A>G
NM_001130987.2(DYSF):c.5884+17_5884+18delinsTT rs2152961473
NM_001130987.2(DYSF):c.5884+19A>G
NM_001130987.2(DYSF):c.5885-12T>A
NM_001130987.2(DYSF):c.5885-12T>C
NM_001130987.2(DYSF):c.5885-17_5885-16delinsGC
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.5885-32A>G
NM_001130987.2(DYSF):c.5885-4G>T rs747361237
NM_001130987.2(DYSF):c.5885-6T>C
NM_001130987.2(DYSF):c.5885-7G>A
NM_001130987.2(DYSF):c.5885-8T>C rs2152967711
NM_001130987.2(DYSF):c.5887T>C (p.Ser1963Pro) rs2152967724
NM_001130987.2(DYSF):c.5892G>A (p.Leu1964=) rs746083114
NM_001130987.2(DYSF):c.5893C>T (p.Gln1965Ter) rs2152967730
NM_001130987.2(DYSF):c.5898C>G (p.Leu1966=) rs770003593
NM_001130987.2(DYSF):c.5898C>T (p.Leu1966=)
NM_001130987.2(DYSF):c.5899G>A (p.Asp1967Asn)
NM_001130987.2(DYSF):c.5906A>G (p.Asn1969Ser) rs775578484
NM_001130987.2(DYSF):c.5909G>A (p.Arg1970His)
NM_001130987.2(DYSF):c.5912T>A (p.Met1971Lys)
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.5921CAGCCAAGA[1] (p.Thr1977_Lys1979del)
NM_001130987.2(DYSF):c.5921CAGCCAAGA[3] (p.Thr1977_Lys1979dup) rs2152967769
NM_001130987.2(DYSF):c.5926A>G (p.Lys1976Glu)
NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=) rs886043955
NM_001130987.2(DYSF):c.5934C>T (p.Ala1978=) rs886043955
NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter) rs1553420738
NM_001130987.2(DYSF):c.5939A>C (p.Lys1980Thr)
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met) rs536703008
NM_001130987.2(DYSF):c.593C>G (p.Thr198Ser)
NM_001130987.2(DYSF):c.5942G>A (p.Cys1981Tyr) rs1235452257
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)
NM_001130987.2(DYSF):c.5943C>T (p.Cys1981=) rs2152967795
NM_001130987.2(DYSF):c.5944T>C (p.Ser1982Pro)
NM_001130987.2(DYSF):c.5946C>T (p.Ser1982=)
NM_001130987.2(DYSF):c.5947T>G (p.Leu1983Val) rs2152967809
NM_001130987.2(DYSF):c.594T>C (p.Thr198=)
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.5958G>A (p.Leu1986=)
NM_001130987.2(DYSF):c.5964T>C (p.Asp1988=)
NM_001130987.2(DYSF):c.5967T>C (p.Ala1989=) rs2152967832
NM_001130987.2(DYSF):c.5976A>T (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.5976_5977inv (p.Glu1993Ter)
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)
NM_001130987.2(DYSF):c.5979A>G (p.Glu1993=)
NM_001130987.2(DYSF):c.5988_5989del (p.Ser1997fs)
NM_001130987.2(DYSF):c.5990C>G (p.Ser1997Cys)
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)
NM_001130987.2(DYSF):c.5991C>G (p.Ser1997=)
NM_001130987.2(DYSF):c.5992C>G (p.Leu1998Val) rs746241195
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6002A>T (p.Gln2001Leu)
NM_001130987.2(DYSF):c.6012G>A (p.Val2004=)
NM_001130987.2(DYSF):c.6019T>C (p.Trp2007Arg) rs886043194
NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs)
NM_001130987.2(DYSF):c.6022dup (p.Trp2008fs) rs2152967880
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6027C>T (p.Pro2009=)
NM_001130987.2(DYSF):c.6028T>C (p.Cys2010Arg) rs1553420858
NM_001130987.2(DYSF):c.6033A>G (p.Val2011=) rs2152967891
NM_001130987.2(DYSF):c.6036A>G (p.Ala2012=)
NM_001130987.2(DYSF):c.603G>A (p.Glu201=) rs765064954
NM_001130987.2(DYSF):c.6048G>A (p.Glu2016=) rs2152967903
NM_001130987.2(DYSF):c.6056_6057del (p.Ile2019fs)
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs) rs2152967906
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val) rs34999029
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
NM_001130987.2(DYSF):c.6063+13C>T
NM_001130987.2(DYSF):c.6063+16C>T
NM_001130987.2(DYSF):c.6063+1G>A rs398123798
NM_001130987.2(DYSF):c.6063+23del
NM_001130987.2(DYSF):c.6063+7C>T rs2152967927
NM_001130987.2(DYSF):c.6063+9A>G rs2152967928
NM_001130987.2(DYSF):c.6064-11dup
NM_001130987.2(DYSF):c.6064-12C>G
NM_001130987.2(DYSF):c.6064-14C>T
NM_001130987.2(DYSF):c.6064-15T>C
NM_001130987.2(DYSF):c.6064-1G>C rs886042636
NM_001130987.2(DYSF):c.6064-5C>T
NM_001130987.2(DYSF):c.6064-8C>A rs375157612
NM_001130987.2(DYSF):c.6065G>A (p.Gly2022Asp) rs886043391
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
NM_001130987.2(DYSF):c.6080C>T (p.Thr2027Ile) rs886043782
NM_001130987.2(DYSF):c.6081C>A (p.Thr2027=)
NM_001130987.2(DYSF):c.6081C>T (p.Thr2027=)
NM_001130987.2(DYSF):c.6090T>A (p.Ile2030=) rs1038963029
NM_001130987.2(DYSF):c.6093A>G (p.Val2031=) rs2152969992
NM_001130987.2(DYSF):c.6096A>G (p.Ala2032=) rs761340591
NM_001130987.2(DYSF):c.6099G>A (p.Glu2033=)
NM_001130987.2(DYSF):c.6105G>A (p.Glu2035=)
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) rs2095289978
NM_001130987.2(DYSF):c.6111G>A (p.Glu2037=) rs2152970015
NM_001130987.2(DYSF):c.6114G>A (p.Glu2038=)
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp) rs1395588065
NM_001130987.2(DYSF):c.6129G>T (p.Gln2043His)
NM_001130987.2(DYSF):c.6131G>A (p.Gly2044Asp) rs2152970043
NM_001130987.2(DYSF):c.6132C>T (p.Gly2044=)
NM_001130987.2(DYSF):c.6133C>A (p.Arg2045=)
NM_001130987.2(DYSF):c.6134G>A (p.Arg2045Gln)
NM_001130987.2(DYSF):c.6139G>T (p.Glu2047Ter) rs886043489
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
NM_001130987.2(DYSF):c.6141G>A (p.Glu2047=) rs1198097946
NM_001130987.2(DYSF):c.6141_6151del (p.Pro2048_Asn2049insTer) rs1558817973
NM_001130987.2(DYSF):c.6148A>G (p.Met2050Val)
NM_001130987.2(DYSF):c.6153C>A (p.Asn2051Lys) rs778053107
NM_001130987.2(DYSF):c.6154C>G (p.Pro2052Ala)
NM_001130987.2(DYSF):c.6155C>G (p.Pro2052Arg) rs886044643
NM_001130987.2(DYSF):c.6155del (p.Pro2052fs)
NM_001130987.2(DYSF):c.6156T>C (p.Pro2052=)
NM_001130987.2(DYSF):c.615C>T (p.Phe205=) rs2086352487
NM_001130987.2(DYSF):c.6161T>C (p.Leu2054Pro) rs978055393
NM_001130987.2(DYSF):c.6166del (p.Asp2056fs) rs1397263011
NM_001130987.2(DYSF):c.6168C>A (p.Asp2056Glu)
NM_001130987.2(DYSF):c.6168C>T (p.Asp2056=) rs745783874
NM_001130987.2(DYSF):c.6170C>A (p.Pro2057Gln)
NM_001130987.2(DYSF):c.6170del (p.Pro2057fs) rs2152970089
NM_001130987.2(DYSF):c.6173+11A>G
NM_001130987.2(DYSF):c.6173+13C>G rs1479440203
NM_001130987.2(DYSF):c.6173+15C>T
NM_001130987.2(DYSF):c.6173+1G>A
NM_001130987.2(DYSF):c.6173+2del
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.6174-11C>T
NM_001130987.2(DYSF):c.6174-16G>A
NM_001130987.2(DYSF):c.6174-16G>C
NM_001130987.2(DYSF):c.6174-17C>T
NM_001130987.2(DYSF):c.6174-2A>G rs1451269647
NM_001130987.2(DYSF):c.6174-4C>G
NM_001130987.2(DYSF):c.6174-7C>T rs2095309076
NM_001130987.2(DYSF):c.6174-8G>C rs777167646
NM_001130987.2(DYSF):c.6174-9C>G rs201070766
NM_001130987.2(DYSF):c.6177C>T (p.Arg2059=) rs2152971873
NM_001130987.2(DYSF):c.6181G>A (p.Asp2061Asn)
NM_001130987.2(DYSF):c.6186C>A (p.Thr2062=)
NM_001130987.2(DYSF):c.6189C>A (p.Ser2063=) rs200994941
NM_001130987.2(DYSF):c.618G>T (p.Leu206=)
NM_001130987.2(DYSF):c.6197G>A (p.Trp2066Ter)
NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)
NM_001130987.2(DYSF):c.6203C>T (p.Thr2068Ile)
NM_001130987.2(DYSF):c.6207C>A (p.Ser2069=) rs754974657
NM_001130987.2(DYSF):c.6207C>G (p.Ser2069=)
NM_001130987.2(DYSF):c.6207C>T (p.Ser2069=) rs754974657
NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=) rs372244975
NM_001130987.2(DYSF):c.6213C>T (p.Tyr2071=)
NM_001130987.2(DYSF):c.6216G>A (p.Lys2072=)
NM_001130987.2(DYSF):c.6219C>G (p.Thr2073=)
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001130987.2(DYSF):c.6231C>A (p.Ile2077=) rs1277048306
NM_001130987.2(DYSF):c.6234G>T (p.Leu2078=)
NM_001130987.2(DYSF):c.6236G>A (p.Trp2079Ter) rs2152971975
NM_001130987.2(DYSF):c.6239G>A (p.Arg2080Gln)
NM_001130987.2(DYSF):c.6239G>T (p.Arg2080Leu) rs760119297
NM_001130987.2(DYSF):c.6249G>C (p.Arg2083=)
NM_001130987.2(DYSF):c.624A>C (p.Gln208His)
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) rs1553422723
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.6261C>T (p.Ile2087=)
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
NM_001130987.2(DYSF):c.6267C>T (p.Phe2089=)
NM_001130987.2(DYSF):c.6268ATC[1] (p.Ile2091del) rs1553422765
NM_001130987.2(DYSF):c.6274C>G (p.Leu2092Val) rs1177991658
NM_001130987.2(DYSF):c.6279C>T (p.Phe2093=)
NM_001130987.2(DYSF):c.6282C>A (p.Ile2094=) rs561011151
NM_001130987.2(DYSF):c.6286C>T (p.Leu2096=) rs1323707735
NM_001130987.2(DYSF):c.6303C>T (p.Ile2101=)
NM_001130987.2(DYSF):c.6305T>G (p.Phe2102Cys)
NM_001130987.2(DYSF):c.6306C>G (p.Phe2102Leu) rs2152972132
NM_001130987.2(DYSF):c.6311A>T (p.Tyr2104Phe) rs2152972138
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+10C>G
NM_001130987.2(DYSF):c.6321+16G>A
NM_001130987.2(DYSF):c.6321+19A>C
NM_001130987.2(DYSF):c.6321+3G>A rs2152972162
NM_001130987.2(DYSF):c.6321+5G>A
NM_001130987.2(DYSF):c.6321+9G>A
NM_001130987.2(DYSF):c.6322-10C>T
NM_001130987.2(DYSF):c.6322-14C>T
NM_001130987.2(DYSF):c.6322-15C>G
NM_001130987.2(DYSF):c.6322-18T>A
NM_001130987.2(DYSF):c.6322-19G>T rs751319354
NM_001130987.2(DYSF):c.6322-4C>T
NM_001130987.2(DYSF):c.6322-8C>T
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser) rs1442725303
NM_001130987.2(DYSF):c.6329del (p.Ala2110fs) rs886042991
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp) rs768820090
NM_001130987.2(DYSF):c.6330T>C (p.Ala2110=) rs2152976511
NM_001130987.2(DYSF):c.6333C>T (p.Ala2111=) rs2152976519
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer) rs886043884
NM_001130987.2(DYSF):c.6334A>G (p.Met2112Val) rs2152976526
NM_001130987.2(DYSF):c.6335T>G (p.Met2112Arg)
NM_001130987.2(DYSF):c.633C>A (p.Gly211=)
NM_001130987.2(DYSF):c.633C>T (p.Gly211=)
NM_001130987.2(DYSF):c.6340C>G (p.Leu2114Val) rs1188699540
NM_001130987.2(DYSF):c.6340C>T (p.Leu2114=)
NM_001130987.2(DYSF):c.6345G>A (p.Val2115=)
NM_001130987.2(DYSF):c.6347A>T (p.Lys2116Met)
NM_001130987.2(DYSF):c.6348G>A (p.Lys2116=)
NM_001130987.2(DYSF):c.6351C>T (p.Pro2117=) rs1434927162
NM_001130987.2(DYSF):c.6358T>G (p.Ter2120Gly) rs1327953255
NM_001130987.2(DYSF):c.6359G>A (p.Ter2120=) rs762886006
NM_001130987.2(DYSF):c.635C>T (p.Pro212Leu)
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser) rs759455142
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
NM_001130987.2(DYSF):c.641del (p.Ala214fs)
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
NM_001130987.2(DYSF):c.650C>T (p.Thr217Ile) rs1328959597
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) rs752497222
NM_001130987.2(DYSF):c.653dup (p.Arg219fs) rs2152731820
NM_001130987.2(DYSF):c.657G>A (p.Arg219=) rs267599439
NM_001130987.2(DYSF):c.660A>G (p.Lys220=)
NM_001130987.2(DYSF):c.661C>T (p.Leu221=)
NM_001130987.2(DYSF):c.668C>A (p.Ser223Ter) rs2152731856
NM_001130987.2(DYSF):c.670C>T (p.Arg224Cys)
NM_001130987.2(DYSF):c.676C>G (p.Pro226Ala) rs756606518
NM_001130987.2(DYSF):c.677C>A (p.Pro226Gln)
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu) rs201980470
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.695T>A (p.Ile232Asn) rs1388145373
NM_001130987.2(DYSF):c.696C>T (p.Ile232=) rs2152731924
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
NM_001130987.2(DYSF):c.700del (p.Arg234fs)
NM_001130987.2(DYSF):c.701del (p.Arg234fs) rs2152731932
NM_001130987.2(DYSF):c.702A>G (p.Arg234=) rs2152731933
NM_001130987.2(DYSF):c.705G>A (p.Lys235=) rs2086363454
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly) rs373585652
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.716C>T (p.Pro239Leu)
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.730del (p.Leu244fs) rs1553521119
NM_001130987.2(DYSF):c.738A>G (p.Ser246=) rs777877625
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
NM_001130987.2(DYSF):c.747G>T (p.Pro249=)
NM_001130987.2(DYSF):c.751G>A (p.Asp251Asn) rs1573644238
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+13C>A
NM_001130987.2(DYSF):c.759+17C>A
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.759+8A>G rs2152732038
NM_001130987.2(DYSF):c.759+9C>G rs761537567
NM_001130987.2(DYSF):c.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.760-12T>C
NM_001130987.2(DYSF):c.760-12T>G
NM_001130987.2(DYSF):c.760-14C>A
NM_001130987.2(DYSF):c.760-15C>A
NM_001130987.2(DYSF):c.760-2A>G
NM_001130987.2(DYSF):c.760-6T>C rs1219777786
NM_001130987.2(DYSF):c.760-7C>T
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC rs1553521641
NM_001130987.2(DYSF):c.760-8_760-7insAT rs2086572242
NM_001130987.2(DYSF):c.762C>T (p.Ile254=)
NM_001130987.2(DYSF):c.765G>A (p.Arg255=) rs2152734356
NM_001130987.2(DYSF):c.766G>A (p.Val256Ile)
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
NM_001130987.2(DYSF):c.778G>A (p.Glu260Lys)
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs759065714
NM_001130987.2(DYSF):c.780G>A (p.Glu260=)
NM_001130987.2(DYSF):c.781G>C (p.Gly261Arg)
NM_001130987.2(DYSF):c.783G>A (p.Gly261=) rs2152734405
NM_001130987.2(DYSF):c.784C>T (p.Arg262Cys)
NM_001130987.2(DYSF):c.795G>A (p.Pro265=) rs751967195
NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp) rs1573657614
NM_001130987.2(DYSF):c.797G>C (p.Gly266Ala)
NM_001130987.2(DYSF):c.798G>T (p.Gly266=)
NM_001130987.2(DYSF):c.801G>A (p.Val267=) rs2086577446
NM_001130987.2(DYSF):c.811C>G (p.Pro271Ala)
NM_001130987.2(DYSF):c.813T>C (p.Pro271=)
NM_001130987.2(DYSF):c.819C>A (p.Val273=)
NM_001130987.2(DYSF):c.819C>G (p.Val273=) rs1573657928
NM_001130987.2(DYSF):c.823G>T (p.Val275Phe)
NM_001130987.2(DYSF):c.826_836delinsGCCCT (p.Thr276_Gly279delinsAlaLeu) rs398123801
NM_001130987.2(DYSF):c.828C>A (p.Thr276=)
NM_001130987.2(DYSF):c.829G>A (p.Ala277Thr) rs770518944
NM_001130987.2(DYSF):c.831T>C (p.Ala277=)
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.848G>A (p.Arg283Gln)
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.852G>A (p.Thr284=) rs1454893867
NM_001130987.2(DYSF):c.859del (p.His287fs)
NM_001130987.2(DYSF):c.860A>C (p.His287Pro) rs398123803
NM_001130987.2(DYSF):c.861C>A (p.His287Gln) rs2152734543
NM_001130987.2(DYSF):c.869dup (p.Asn290fs)
NM_001130987.2(DYSF):c.870C>G (p.Asn290Lys) rs766315212
NM_001130987.2(DYSF):c.872G>A (p.Ser291Asn)
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg) rs1559053603
NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)
NM_001130987.2(DYSF):c.877C>T (p.Leu293Phe) rs398123804
NM_001130987.2(DYSF):c.882C>T (p.Phe294=) rs2152734587
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.888+11T>A
NM_001130987.2(DYSF):c.888+11del
NM_001130987.2(DYSF):c.888+12G>C
NM_001130987.2(DYSF):c.888+14G>C
NM_001130987.2(DYSF):c.888+17A>G
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.888+2T>A rs886042970
NM_001130987.2(DYSF):c.888+5G>A rs757011960
NM_001130987.2(DYSF):c.888+7G>A
NM_001130987.2(DYSF):c.888+9C>T rs2152734615
NM_001130987.2(DYSF):c.888G>A (p.Glu296=)
NM_001130987.2(DYSF):c.888G>C (p.Glu296Asp) rs398123805
NM_001130987.2(DYSF):c.889-10G>A
NM_001130987.2(DYSF):c.889-13T>C
NM_001130987.2(DYSF):c.889-13T>G
NM_001130987.2(DYSF):c.889-15G>A
NM_001130987.2(DYSF):c.889-16T>C
NM_001130987.2(DYSF):c.889-20T>C
NM_001130987.2(DYSF):c.889-4dup rs2086631948
NM_001130987.2(DYSF):c.889-7C>G
NM_001130987.2(DYSF):c.889-9A>G
NM_001130987.2(DYSF):c.891T>C (p.Thr297=) rs2152735262
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.895_896del (p.Phe299fs) rs1337417322
NM_001130987.2(DYSF):c.901A>G (p.Asn301Asp)
NM_001130987.2(DYSF):c.907_910del (p.Phe303fs)
NM_001130987.2(DYSF):c.92-11G>A rs1334352542
NM_001130987.2(DYSF):c.92-12T>C
NM_001130987.2(DYSF):c.92-13G>C
NM_001130987.2(DYSF):c.92-13G>T
NM_001130987.2(DYSF):c.92-14dup
NM_001130987.2(DYSF):c.92-17T>G
NM_001130987.2(DYSF):c.92-18C>G
NM_001130987.2(DYSF):c.92-19C>T
NM_001130987.2(DYSF):c.92-1G>A rs786205524
NM_001130987.2(DYSF):c.92-20C>T
NM_001130987.2(DYSF):c.92-4G>A rs1449269717
NM_001130987.2(DYSF):c.92-5T>C
NM_001130987.2(DYSF):c.92-9C>T rs2152680440
NM_001130987.2(DYSF):c.922G>T (p.Glu308Ter)
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.923del (p.Glu308fs) rs2086635842
NM_001130987.2(DYSF):c.925C>T (p.Leu309=) rs2152735318
NM_001130987.2(DYSF):c.933T>C (p.Asp311=)
NM_001130987.2(DYSF):c.939C>T (p.Pro313=)
NM_001130987.2(DYSF):c.93G>A (p.Gly31=)
NM_001130987.2(DYSF):c.93G>C (p.Gly31=) rs2152680463
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.948C>T (p.Ile316=) rs2152735354
NM_001130987.2(DYSF):c.951+10A>G
NM_001130987.2(DYSF):c.951+11G>A
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001130987.2(DYSF):c.951+20G>A
NM_001130987.2(DYSF):c.951+2T>G rs886042590
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_001130987.2(DYSF):c.951+4_951+5delinsCC rs2086638627
NM_001130987.2(DYSF):c.951+7C>G
NM_001130987.2(DYSF):c.951+8T>G rs2086639271
NM_001130987.2(DYSF):c.952-14A>T
NM_001130987.2(DYSF):c.952-15del
NM_001130987.2(DYSF):c.952-2A>G rs1553522730
NM_001130987.2(DYSF):c.952-2_952-1del
NM_001130987.2(DYSF):c.952-3C>G
NM_001130987.2(DYSF):c.952-6C>G
NM_001130987.2(DYSF):c.952-6C>T
NM_001130987.2(DYSF):c.952-9del rs2152736689
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) rs1553522751
NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
NM_001130987.2(DYSF):c.962C>T (p.Ser321Phe) rs776921154
NM_001130987.2(DYSF):c.963T>G (p.Ser321=) rs2152736743
NM_001130987.2(DYSF):c.969T>C (p.Ser323=)
NM_001130987.2(DYSF):c.975_979dup (p.Asp327fs)
NM_001130987.2(DYSF):c.978A>G (p.Thr326=)
NM_001130987.2(DYSF):c.980A>G (p.Asp327Gly) rs2086728317
NM_001130987.2(DYSF):c.981T>G (p.Asp327Glu)
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr) rs1314586455
NM_001130987.2(DYSF):c.982del (p.Ala328fs)
NM_001130987.2(DYSF):c.987C>G (p.Leu329=) rs2152736782
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.98del (p.Lys33fs)
NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg) rs121908963
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
NM_001130987.2(DYSF):c.995del (p.Glu332fs) rs886044386
NM_001130987.2(DYSF):c.996G>A (p.Glu332=) rs2152736816
NM_001130987.2(DYSF):c.997_1002+1delinsAAAA
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_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003494.4(DYSF):c.-12C>G rs1553495883
NM_003494.4(DYSF):c.-274T>G rs1573204708
NM_003494.4(DYSF):c.-327G>T rs535087290
NM_003494.4(DYSF):c.-50T>A rs758686196
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.1484A>C (p.Glu495Ala)
NM_003494.4(DYSF):c.1485G>A (p.Glu495=) rs944668036
NM_003494.4(DYSF):c.1486C>A (p.Pro496Thr) rs368577086
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser) rs368577086
NM_003494.4(DYSF):c.1491A>C (p.Ala497=)
NM_003494.4(DYSF):c.1491A>G (p.Ala497=)
NM_003494.4(DYSF):c.1498G>A (p.Val500Ile) rs2152783863
NM_003494.4(DYSF):c.1508C>G (p.Ser503Trp)
NM_003494.4(DYSF):c.1512A>T (p.Lys504Asn)
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) rs1553541329
NM_003494.4(DYSF):c.1522+1G>A rs1473130799
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.18C>T (p.Ile6=) rs2080944093
NM_003494.4(DYSF):c.19C>T (p.Leu7Phe)
NM_003494.4(DYSF):c.1A>G (p.Met1Val) rs1259378167
NM_003494.4(DYSF):c.21C>T (p.Leu7=)
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter) rs2080944539
NM_003494.4(DYSF):c.25G>A (p.Ala9Thr)
NM_003494.4(DYSF):c.27C>T (p.Ala9=)
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_003494.4(DYSF):c.30G>A (p.Glu10=)
NM_003494.4(DYSF):c.33C>G (p.Asn11Lys)
NM_003494.4(DYSF):c.33C>T (p.Asn11=)
NM_003494.4(DYSF):c.34G>T (p.Val12Phe)
NM_003494.4(DYSF):c.36C>T (p.Val12=)
NM_003494.4(DYSF):c.42_43del (p.Pro15fs)
NM_003494.4(DYSF):c.45C>G (p.Pro15=)
NM_003494.4(DYSF):c.45C>T (p.Pro15=)
NM_003494.4(DYSF):c.46G>C (p.Asp16His)
NM_003494.4(DYSF):c.49A>G (p.Thr17Ala) rs2080945647
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.4(DYSF):c.59_68del (p.Ser20fs) rs1420619668
NM_003494.4(DYSF):c.63T>C (p.Asp21=) rs2152620814
NM_003494.4(DYSF):c.66C>A (p.Ala22=)
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs) rs1553495983
NM_003494.4(DYSF):c.68A>G (p.Tyr23Cys)
NM_003494.4(DYSF):c.72C>T (p.Cys24=)
NM_003494.4(DYSF):c.75C>T (p.Ser25=) rs375772222
NM_003494.4(DYSF):c.84T>C (p.Phe28=) rs1261407949
NM_003494.4(DYSF):c.88+10G>A
NM_003494.4(DYSF):c.88+10G>T
NM_003494.4(DYSF):c.88+11C>T
NM_003494.4(DYSF):c.88+12437C>T rs6752164
NM_003494.4(DYSF):c.88+12C>G
NM_003494.4(DYSF):c.88+13G>A
NM_003494.4(DYSF):c.88+15C>A
NM_003494.4(DYSF):c.88+19C>T
NM_003494.4(DYSF):c.88+1G>A
NM_003494.4(DYSF):c.88+20C>T
NM_003494.4(DYSF):c.88G>C (p.Gly30Arg) rs767637508
NM_003494.4(DYSF):c.8G>A (p.Arg3Lys) rs886043856
NM_003494.4(DYSF):c.9G>A (p.Arg3=) rs2152620707
NM_003494.4(DYSF):c.9G>C (p.Arg3Ser)
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
Single allele

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.