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
|
|
|