NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
NM_001605.3(AARS1):c.2715T>C (p.Val905=)
|
rs4081753
|
0.85676
|
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)
|
rs560096
|
0.76511
|
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp)
|
rs1539567
|
0.75123
|
NM_001005373.4(LRSAM1):c.1912+5A>C
|
rs2248822
|
0.74956
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=)
|
rs2243906
|
0.61095
|
NM_021625.5(TRPV4):c.670A>C (p.Arg224=)
|
rs3825394
|
0.60669
|
NM_015271.5(TRIM2):c.1032G>A (p.Thr344=)
|
rs893805
|
0.51938
|
NM_001605.3(AARS1):c.903C>T (p.His301=)
|
rs2070203
|
0.49332
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_001005373.4(LRSAM1):c.904-9C>T
|
rs1539568
|
0.43695
|
NM_001303256.3(MORC2):c.96C>T (p.Ala32=)
|
rs737924
|
0.40756
|
NM_001303256.3(MORC2):c.1437A>G (p.Pro479=)
|
rs3747151
|
0.39939
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_001303256.3(MORC2):c.378C>G (p.Thr126=)
|
rs2072132
|
0.29850
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
NM_001365951.3(KIF1B):c.720+17C>T
|
rs1339458
|
0.25792
|
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)
|
rs622082
|
0.24183
|
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)
|
rs546382
|
0.24174
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)
|
rs17612126
|
0.22387
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)
|
rs11228413
|
0.20651
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)
|
rs3742037
|
0.14446
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_021625.5(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034
|
0.12664
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236
|
0.09556
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438
|
0.09548
|
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=)
|
rs12125492
|
0.08850
|
NM_021625.5(TRPV4):c.795C>T (p.His265=)
|
rs1344554
|
0.08478
|
NM_006158.5(NEFL):c.1170-13T>C
|
rs76347846
|
0.08329
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593
|
0.08113
|
NM_001605.3(AARS1):c.671+3A>G
|
rs74024185
|
0.07668
|
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)
|
rs11537667
|
0.07667
|
NM_014874.4(MFN2):c.2204+15T>C
|
rs77262016
|
0.07571
|
NM_014365.3(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742
|
0.07444
|
NM_002180.3(IGHMBP2):c.1418+18A>G
|
rs112575423
|
0.06280
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_001303256.3(MORC2):c.966A>T (p.Gly322=)
|
rs16989204
|
0.05416
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_014874.4(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837
|
0.04459
|
NM_004637.6(RAB7A):c.219C>T (p.Leu73=)
|
rs4548
|
0.04279
|
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270
|
0.04182
|
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502
|
0.04180
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
NM_001122955.4(BSCL2):c.765+15C>T
|
rs79586077
|
0.03596
|
NM_001365951.3(KIF1B):c.4946+9C>T
|
rs72867431
|
0.03521
|
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=)
|
rs17034660
|
0.03490
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu)
|
rs75690855
|
0.03450
|
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)
|
rs2297881
|
0.03425
|
NM_001365951.3(KIF1B):c.1180+18C>T
|
rs41274456
|
0.03074
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_014365.3(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028
|
0.03035
|
NM_001376.5(DYNC1H1):c.9469-20A>T
|
rs2720210
|
0.03010
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216
|
0.02416
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
NM_014874.4(MFN2):c.159C>T (p.Ser53=)
|
rs61733200
|
0.02240
|
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr)
|
rs61737294
|
0.02098
|
NM_001365951.3(KIF1B):c.608+8dup
|
rs139613776
|
0.01962
|
NM_001005373.4(LRSAM1):c.1830+6C>T
|
rs75171318
|
0.01846
|
NM_030973.4(MED25):c.165G>A (p.Thr55=)
|
rs77400039
|
0.01828
|
NM_001365951.3(KIF1B):c.363+6A>C
|
rs114084418
|
0.01751
|
NM_001376.5(DYNC1H1):c.3960+16G>A
|
rs11850726
|
0.01643
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_021625.5(TRPV4):c.387-4C>T
|
rs12305439
|
0.01630
|
NM_030973.4(MED25):c.1483-7C>T
|
rs2017698
|
0.01612
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770
|
0.01578
|
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641
|
0.01523
|
NM_030973.4(MED25):c.2031G>A (p.Ala677=)
|
rs57854058
|
0.01517
|
NM_014365.3(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602
|
0.01515
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_014874.4(MFN2):c.2205-13C>A
|
rs76020240
|
0.01362
|
NM_001303256.3(MORC2):c.699-20T>C
|
rs78973434
|
0.01322
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu)
|
rs61999305
|
0.01293
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_015271.5(TRIM2):c.870C>T (p.Asn290=)
|
rs35333794
|
0.01210
|
NM_004990.4(MARS1):c.2532G>A (p.Ala844=)
|
rs73344102
|
0.01123
|
NM_014874.4(MFN2):c.1039-19G>A
|
rs74052923
|
0.01120
|
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met)
|
rs77172218
|
0.01096
|
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)
|
rs624147
|
0.01079
|
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=)
|
rs116089798
|
0.01068
|
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382
|
0.01064
|
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709
|
0.00971
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196
|
0.00962
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206
|
0.00946
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_170707.4(LMNA):c.1158-44C>T
|
rs141879453
|
0.00929
|
NM_001005361.3(DNM2):c.1782-11C>T
|
rs78580529
|
0.00921
|
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly)
|
rs193291405
|
0.00836
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_002180.3(IGHMBP2):c.1757-18C>A
|
rs77247855
|
0.00796
|
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=)
|
rs34768188
|
0.00793
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297
|
0.00777
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054
|
0.00771
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)
|
rs149377346
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_001365951.3(KIF1B):c.3864+6A>C
|
rs114266141
|
0.00716
|
NM_001365951.3(KIF1B):c.4055+6A>G
|
rs76519832
|
0.00707
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
NM_014874.4(MFN2):c.970+19G>A
|
rs75865135
|
0.00707
|
NM_030973.4(MED25):c.1482+19G>A
|
rs4802632
|
0.00704
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
NM_021625.5(TRPV4):c.1341C>T (p.His447=)
|
rs57316123
|
0.00683
|
NM_001376.5(DYNC1H1):c.5433+17dup
|
rs140185574
|
0.00680
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_001376.5(DYNC1H1):c.13516-16C>T
|
rs28669726
|
0.00656
|
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688
|
0.00646
|
NM_001122955.4(BSCL2):c.1234+20G>A
|
rs113229350
|
0.00638
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_001005361.3(DNM2):c.1196+773C>T
|
rs150975494
|
0.00628
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_001303256.3(MORC2):c.234T>G (p.Ala78=)
|
rs140792905
|
0.00599
|
NM_030973.4(MED25):c.2056C>T (p.Leu686=)
|
rs201969940
|
0.00598
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_014874.4(MFN2):c.744C>T (p.Leu248=)
|
rs61733205
|
0.00591
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=)
|
rs138396245
|
0.00580
|
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=)
|
rs34426300
|
0.00573
|
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)
|
rs151091410
|
0.00568
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611
|
0.00542
|
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)
|
rs113808165
|
0.00541
|
NM_002180.3(IGHMBP2):c.1538-8C>G
|
rs115320302
|
0.00540
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_001005373.4(LRSAM1):c.1044-9T>C
|
rs59501881
|
0.00523
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_001376.5(DYNC1H1):c.12684+14A>G
|
rs200392758
|
0.00502
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)
|
rs77822399
|
0.00494
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859
|
0.00486
|
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)
|
rs116302604
|
0.00481
|
NM_000263.4(NAGLU):c.675G>T (p.Leu225=)
|
rs115680529
|
0.00469
|
NM_030973.4(MED25):c.1794C>T (p.Ala598=)
|
rs185100172
|
0.00456
|
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595
|
0.00455
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_002047.4(GARS1):c.2190G>A (p.Glu730=)
|
rs190132116
|
0.00437
|
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)
|
rs41279971
|
0.00436
|
NM_001365951.3(KIF1B):c.4753-20C>A
|
rs192598799
|
0.00436
|
NM_004990.4(MARS1):c.1753+7A>G
|
rs117914586
|
0.00435
|
NM_001303256.3(MORC2):c.1737+4C>T
|
rs5997814
|
0.00421
|
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)
|
rs34658653
|
0.00420
|
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)
|
rs75413741
|
0.00415
|
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061
|
0.00398
|
NM_006158.5(NEFL):c.1275C>T (p.Gly425=)
|
rs114329068
|
0.00395
|
NM_030973.4(MED25):c.93C>T (p.Tyr31=)
|
rs61742955
|
0.00394
|
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780
|
0.00392
|
NM_001605.3(AARS1):c.962+18T>C
|
rs149761815
|
0.00391
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_001005361.3(DNM2):c.236-8C>G
|
rs143084059
|
0.00361
|
NM_001005361.3(DNM2):c.519T>C (p.Ala173=)
|
rs77702567
|
0.00359
|
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)
|
rs150900416
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_014874.4(MFN2):c.975C>T (p.Gly325=)
|
rs141475476
|
0.00357
|
NM_001005361.3(DNM2):c.1545+14C>G
|
rs114713494
|
0.00350
|
NM_001303256.3(MORC2):c.158-12del
|
rs66613527
|
0.00343
|
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met)
|
rs140786088
|
0.00342
|
NM_004637.6(RAB7A):c.495G>A (p.Ala165=)
|
rs146566121
|
0.00341
|
NM_001303256.3(MORC2):c.2747+5_2747+6del
|
rs67357185
|
0.00339
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)
|
rs75075497
|
0.00332
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_004990.4(MARS1):c.626G>A (p.Ser209Asn)
|
rs141671963
|
0.00327
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys)
|
rs143669846
|
0.00317
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_001303256.3(MORC2):c.226+18T>C
|
rs114021247
|
0.00279
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu)
|
rs141224290
|
0.00255
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)
|
rs61737297
|
0.00252
|
NM_030973.4(MED25):c.2088G>A (p.Leu696=)
|
rs371157406
|
0.00252
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_004990.4(MARS1):c.2204+11G>A
|
rs202080192
|
0.00239
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_001303256.3(MORC2):c.63A>G (p.Thr21=)
|
rs73156742
|
0.00230
|
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)
|
rs117525287
|
0.00228
|
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)
|
rs41279975
|
0.00227
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_004990.4(MARS1):c.280-14C>T
|
rs183195960
|
0.00223
|
NM_006158.5(NEFL):c.855C>T (p.Thr285=)
|
rs1065083
|
0.00221
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_001005361.3(DNM2):c.1781+17C>A
|
rs75344643
|
0.00220
|
NM_001303256.3(MORC2):c.2841+20C>T
|
rs192723178
|
0.00218
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280
|
0.00210
|
NM_004637.6(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_004990.4(MARS1):c.1500A>G (p.Lys500=)
|
rs2290297
|
0.00206
|
NM_021625.5(TRPV4):c.1825-14G>A
|
rs114829048
|
0.00206
|
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=)
|
rs78611156
|
0.00200
|
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892
|
0.00191
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421
|
0.00190
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_006158.5(NEFL):c.1026C>G (p.Ala342=)
|
rs35596950
|
0.00189
|
NM_030973.4(MED25):c.688+17G>A
|
rs373952366
|
0.00188
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_014874.4(MFN2):c.663T>C (p.Asp221=)
|
rs116504054
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839
|
0.00183
|
NM_021625.5(TRPV4):c.1581C>T (p.Thr527=)
|
rs114653066
|
0.00182
|
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=)
|
rs17540624
|
0.00177
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_001540.5(HSPB1):c.573T>C (p.Leu191=)
|
rs34771861
|
0.00170
|
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270
|
0.00168
|
NM_030973.4(MED25):c.819+14C>T
|
rs188257265
|
0.00166
|
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
NM_021625.5(TRPV4):c.57C>T (p.Pro19=)
|
rs112408790
|
0.00161
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
0.00153
|
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)
|
rs147066476
|
0.00150
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_021625.5(TRPV4):c.1585-18C>T
|
rs201974634
|
0.00148
|
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro)
|
rs376436045
|
0.00141
|
NM_004990.4(MARS1):c.801C>T (p.Leu267=)
|
rs151260441
|
0.00138
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510
|
0.00132
|
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992
|
0.00130
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_004990.4(MARS1):c.2209C>A (p.Arg737=)
|
rs139536122
|
0.00127
|
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657
|
0.00125
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165
|
0.00125
|
NM_030973.4(MED25):c.396C>T (p.Arg132=)
|
rs142353864
|
0.00125
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
NM_030973.4(MED25):c.1675-7C>T
|
rs79635160
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)
|
rs146217031
|
0.00119
|
NM_001005361.3(DNM2):c.386-6T>A
|
rs114623441
|
0.00118
|
NM_001365951.3(KIF1B):c.3259+9A>G
|
rs149566646
|
0.00118
|
NM_001005361.3(DNM2):c.1782-5C>T
|
rs200103145
|
0.00113
|
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=)
|
rs17512877
|
0.00110
|
NM_001376.5(DYNC1H1):c.4185+20C>T
|
rs74948967
|
0.00110
|
NM_001365951.3(KIF1B):c.5097-9C>T
|
rs376873833
|
0.00108
|
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183
|
0.00108
|
NM_014874.4(MFN2):c.165C>T (p.Thr55=)
|
rs77458527
|
0.00106
|
NM_014874.4(MFN2):c.408A>T (p.Val136=)
|
rs78814413
|
0.00106
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=)
|
rs182767009
|
0.00103
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_001376.5(DYNC1H1):c.3157-11T>C
|
rs367593677
|
0.00103
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00102
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00096
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_001376.5(DYNC1H1):c.8637+12G>A
|
rs17512551
|
0.00096
|
NM_001605.3(AARS1):c.1332G>A (p.Glu444=)
|
rs150442667
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser)
|
rs76273991
|
0.00093
|
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=)
|
rs150773110
|
0.00093
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=)
|
rs139159572
|
0.00092
|
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=)
|
rs140142437
|
0.00091
|
NM_015271.5(TRIM2):c.2022+13C>T
|
rs372652394
|
0.00091
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00091
|
NM_030973.4(MED25):c.1374+9C>T
|
rs574703435
|
0.00090
|
NM_014874.4(MFN2):c.150C>A (p.Ile50=)
|
rs78841746
|
0.00089
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_001605.3(AARS1):c.2608-6C>A
|
rs200965527
|
0.00088
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_014874.4(MFN2):c.891C>T (p.Ala297=)
|
rs11554508
|
0.00087
|
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=)
|
rs11228414
|
0.00085
|
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=)
|
rs143258359
|
0.00083
|
NM_004990.4(MARS1):c.1812G>A (p.Gly604=)
|
rs117633211
|
0.00083
|
NM_004990.4(MARS1):c.477C>T (p.Pro159=)
|
rs117101415
|
0.00083
|
NM_001605.3(AARS1):c.1632C>T (p.Asp544=)
|
rs149425243
|
0.00081
|
NM_001122955.4(BSCL2):c.487-14G>A
|
rs189771133
|
0.00080
|
NM_001365951.3(KIF1B):c.2757C>T (p.Asp919=)
|
rs78013543
|
0.00080
|
NM_001005361.3(DNM2):c.2059-5C>T
|
rs377150057
|
0.00078
|
NM_001005373.4(LRSAM1):c.1131T>A (p.Thr377=)
|
rs141912153
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)
|
rs34013442
|
0.00078
|
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=)
|
rs141998703
|
0.00077
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=)
|
rs111459275
|
0.00075
|
NM_001605.3(AARS1):c.2369A>T (p.Asp790Val)
|
rs555357914
|
0.00072
|
NM_002047.4(GARS1):c.1724T>C (p.Ile575Thr)
|
rs181912750
|
0.00071
|
NM_002180.3(IGHMBP2):c.1418+11C>T
|
rs201279838
|
0.00071
|
NM_004990.4(MARS1):c.1689C>T (p.Val563=)
|
rs117833843
|
0.00071
|
NM_001376.5(DYNC1H1):c.12684+19A>G
|
rs377124918
|
0.00068
|
NM_004990.4(MARS1):c.280-18A>G
|
rs141020578
|
0.00068
|
NM_001365951.3(KIF1B):c.959-17A>G
|
rs372958251
|
0.00067
|
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712
|
0.00067
|
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=)
|
rs140336379
|
0.00065
|
NM_001365951.3(KIF1B):c.184-19C>T
|
rs184562782
|
0.00065
|
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652
|
0.00065
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_015271.5(TRIM2):c.1017C>T (p.Ile339=)
|
rs115515921
|
0.00064
|
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=)
|
rs181021573
|
0.00063
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313
|
0.00063
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_004990.4(MARS1):c.490+14A>G
|
rs74832951
|
0.00063
|
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)
|
rs150549628
|
0.00062
|
NM_006158.5(NEFL):c.1044+20A>T
|
rs373892107
|
0.00062
|
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=)
|
rs116558260
|
0.00061
|
NM_001376.5(DYNC1H1):c.12903-14C>T
|
rs139935428
|
0.00060
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027
|
0.00059
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_014874.4(MFN2):c.1495+9C>T
|
rs375494746
|
0.00059
|
NM_021625.5(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793
|
0.00058
|
NM_001005373.4(LRSAM1):c.414G>A (p.Lys138=)
|
rs151323851
|
0.00056
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857
|
0.00056
|
NM_001303256.3(MORC2):c.2193+15C>T
|
rs201301518
|
0.00055
|
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)
|
rs147734401
|
0.00054
|
NM_006158.5(NEFL):c.1059A>G (p.Lys353=)
|
rs190841835
|
0.00054
|
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)
|
rs541606391
|
0.00054
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=)
|
rs150831576
|
0.00052
|
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=)
|
rs145405293
|
0.00052
|
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)
|
rs139661803
|
0.00052
|
NM_001005373.4(LRSAM1):c.2121G>A (p.Pro707=)
|
rs570732998
|
0.00049
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_001303256.3(MORC2):c.1499-9T>C
|
rs201213165
|
0.00047
|
NM_001376.5(DYNC1H1):c.11595+12T>C
|
rs200110362
|
0.00046
|
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=)
|
rs116089522
|
0.00046
|
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=)
|
rs150603103
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_014365.3(HSPB8):c.171C>T (p.Ser57=)
|
rs143010542
|
0.00046
|
NM_001365951.3(KIF1B):c.1435-15C>T
|
rs371838261
|
0.00044
|
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=)
|
rs181697853
|
0.00044
|
NM_014874.4(MFN2):c.72G>T (p.Val24=)
|
rs138454088
|
0.00044
|
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674
|
0.00043
|
NM_014365.3(HSPB8):c.432-16C>T
|
rs183447670
|
0.00043
|
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418
|
0.00043
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_001605.3(AARS1):c.1428G>C (p.Arg476=)
|
rs80257731
|
0.00041
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
NM_004637.6(RAB7A):c.87G>A (p.Val29=)
|
rs145441548
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_001605.3(AARS1):c.741G>A (p.Leu247=)
|
rs148075561
|
0.00038
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613
|
0.00037
|
NM_001005361.3(DNM2):c.1493+12T>C
|
rs200489732
|
0.00036
|
NM_014874.4(MFN2):c.1728C>T (p.Pro576=)
|
rs147802404
|
0.00036
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=)
|
rs139070737
|
0.00035
|
NM_001005373.4(LRSAM1):c.350T>C (p.Met117Thr)
|
rs201772539
|
0.00034
|
NM_001365951.3(KIF1B):c.429+13G>A
|
rs199792028
|
0.00034
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_001303256.3(MORC2):c.2989C>T (p.Leu997=)
|
rs142766430
|
0.00031
|
NM_004990.4(MARS1):c.109+18G>C
|
rs372722438
|
0.00031
|
NM_021625.5(TRPV4):c.426G>A (p.Pro142=)
|
rs145327152
|
0.00031
|
NM_030973.4(MED25):c.2208C>T (p.Ser736=)
|
rs376796439
|
0.00030
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_001005361.3(DNM2):c.589+17G>T
|
rs374377836
|
0.00028
|
NM_030973.4(MED25):c.1434G>A (p.Lys478=)
|
rs181389801
|
0.00028
|
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669
|
0.00027
|
NM_001376.5(DYNC1H1):c.9774A>G (p.Gln3258=)
|
rs528520653
|
0.00026
|
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)
|
rs149736203
|
0.00026
|
NM_030973.4(MED25):c.1062C>T (p.Ser354=)
|
rs140345077
|
0.00026
|
NM_030973.4(MED25):c.404+16A>G
|
rs190980102
|
0.00026
|
NM_001376.5(DYNC1H1):c.13515+18G>A
|
rs200633553
|
0.00025
|
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)
|
rs201241092
|
0.00025
|
NM_001303256.3(MORC2):c.1499-12T>G
|
rs774266265
|
0.00023
|
NM_001303256.3(MORC2):c.939T>A (p.Ala313=)
|
rs755275051
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_002047.4(GARS1):c.51G>A (p.Leu17=)
|
rs202117737
|
0.00023
|
NM_001303256.3(MORC2):c.3030+9G>C
|
rs200086094
|
0.00022
|
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=)
|
rs143689867
|
0.00021
|
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590
|
0.00021
|
NM_001303256.3(MORC2):c.2649C>T (p.Val883=)
|
rs189421529
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln)
|
rs142782210
|
0.00020
|
NM_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=)
|
rs34287672
|
0.00019
|
NM_001605.3(AARS1):c.561C>T (p.Cys187=)
|
rs78523270
|
0.00019
|
NM_002180.3(IGHMBP2):c.366C>T (p.His122=)
|
rs144401213
|
0.00019
|
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871
|
0.00019
|
NM_001365951.3(KIF1B):c.4824+15T>G
|
rs201508062
|
0.00018
|
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp)
|
rs186458188
|
0.00017
|
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln)
|
rs373439616
|
0.00017
|
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
|
rs192742245
|
0.00017
|
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)
|
rs370926100
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)
|
rs140532785
|
0.00016
|
NM_001005361.3(DNM2):c.789G>A (p.Pro263=)
|
rs199976453
|
0.00014
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_001605.3(AARS1):c.1108A>G (p.Met370Val)
|
rs199976742
|
0.00014
|
NM_001605.3(AARS1):c.1938C>G (p.Thr646=)
|
rs147822575
|
0.00014
|
NM_014874.4(MFN2):c.474+4A>G
|
rs141974160
|
0.00014
|
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)
|
rs149412531
|
0.00013
|
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)
|
rs199679500
|
0.00013
|
NM_001376.5(DYNC1H1):c.8584G>A (p.Asp2862Asn)
|
rs139461837
|
0.00013
|
NM_001605.3(AARS1):c.744A>G (p.Val248=)
|
rs752618189
|
0.00013
|
NM_004990.4(MARS1):c.490+20C>T
|
rs78617675
|
0.00013
|
NM_006158.5(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919
|
0.00013
|
NM_001005361.3(DNM2):c.2059-20T>G
|
rs765782246
|
0.00012
|
NM_001303256.3(MORC2):c.2190C>T (p.Ser730=)
|
rs376896083
|
0.00012
|
NM_001365951.3(KIF1B):c.1180+19G>A
|
rs200480069
|
0.00012
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_001605.3(AARS1):c.2592C>T (p.Ser864=)
|
rs11537665
|
0.00012
|
NM_001005361.3(DNM2):c.1196+711A>T
|
rs186762327
|
0.00011
|
NM_001005373.4(LRSAM1):c.751-8C>G
|
rs367823841
|
0.00011
|
NM_001376.5(DYNC1H1):c.13667G>A (p.Cys4556Tyr)
|
rs142519155
|
0.00011
|
NM_001376.5(DYNC1H1):c.257-20A>G
|
rs201905359
|
0.00011
|
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile)
|
rs376456164
|
0.00011
|
NM_001605.3(AARS1):c.1509G>A (p.Val503=)
|
rs138406510
|
0.00011
|
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)
|
rs201358272
|
0.00011
|
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)
|
rs200300686
|
0.00010
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328
|
0.00010
|
NM_001605.3(AARS1):c.1410C>T (p.Ile470=)
|
rs79785372
|
0.00010
|
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=)
|
rs201485072
|
0.00010
|
NM_004990.4(MARS1):c.1360C>T (p.Leu454=)
|
rs139002397
|
0.00010
|
NM_006158.5(NEFL):c.1560C>A (p.Thr520=)
|
rs267607677
|
0.00010
|
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=)
|
rs147205387
|
0.00009
|
NM_001376.5(DYNC1H1):c.11460+18_11460+57del
|
rs768638049
|
0.00009
|
NM_001376.5(DYNC1H1):c.11691-4G>T
|
rs201810550
|
0.00009
|
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194
|
0.00009
|
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=)
|
rs201720217
|
0.00009
|
NM_001005361.3(DNM2):c.666C>T (p.Asn222=)
|
rs2229921
|
0.00008
|
NM_001376.5(DYNC1H1):c.12102+20C>T
|
rs200362531
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002180.3(IGHMBP2):c.548-20C>T
|
rs368802434
|
0.00008
|
NM_006158.5(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413
|
0.00008
|
NM_021625.5(TRPV4):c.2307C>T (p.Asp769=)
|
rs200372627
|
0.00008
|
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=)
|
rs202008601
|
0.00007
|
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
rs140791936
|
0.00007
|
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)
|
rs529095936
|
0.00007
|
NM_014874.4(MFN2):c.175+14G>A
|
rs202139103
|
0.00007
|
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932
|
0.00007
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103
|
0.00006
|
NM_001005361.3(DNM2):c.450A>G (p.Pro150=)
|
rs766121627
|
0.00006
|
NM_001005361.3(DNM2):c.543G>A (p.Leu181=)
|
rs374823728
|
0.00006
|
NM_001303256.3(MORC2):c.426+13A>G
|
rs773335077
|
0.00006
|
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=)
|
rs765541693
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
NM_004990.4(MARS1):c.2478G>A (p.Pro826=)
|
rs149241208
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)
|
rs763679404
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_001376.5(DYNC1H1):c.13212T>C (p.Asn4404=)
|
rs373496930
|
0.00005
|
NM_001376.5(DYNC1H1):c.13407G>A (p.Val4469=)
|
rs1445271324
|
0.00005
|
NM_001376.5(DYNC1H1):c.6029C>T (p.Pro2010Leu)
|
rs747348966
|
0.00005
|
NM_001005373.4(LRSAM1):c.1353G>A (p.Ala451=)
|
rs535634291
|
0.00004
|
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg)
|
rs551543997
|
0.00004
|
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly)
|
rs751092252
|
0.00004
|
NM_001376.5(DYNC1H1):c.2612A>G (p.His871Arg)
|
rs368026551
|
0.00004
|
NM_001376.5(DYNC1H1):c.5239-12T>C
|
rs377506256
|
0.00004
|
NM_001376.5(DYNC1H1):c.5364C>T (p.Thr1788=)
|
rs748651294
|
0.00004
|
NM_001376.5(DYNC1H1):c.5594A>G (p.Lys1865Arg)
|
rs146678667
|
0.00004
|
NM_001605.3(AARS1):c.2700G>A (p.Thr900=)
|
rs140814462
|
0.00004
|
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)
|
rs3750977
|
0.00004
|
NM_004990.4(MARS1):c.415-5del
|
rs781175787
|
0.00004
|
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)
|
rs376598131
|
0.00004
|
NM_014874.4(MFN2):c.176-7C>T
|
rs374055101
|
0.00004
|
NM_014874.4(MFN2):c.2070-11C>G
|
rs759614417
|
0.00004
|
NM_014874.4(MFN2):c.543G>A (p.Val181=)
|
rs183226846
|
0.00004
|
NM_015271.5(TRIM2):c.999G>A (p.Glu333=)
|
rs114577610
|
0.00004
|
NM_021625.5(TRPV4):c.1491+17C>T
|
rs763452614
|
0.00004
|
NM_021625.5(TRPV4):c.2388C>T (p.Asn796=)
|
rs116685089
|
0.00004
|
NM_001365951.3(KIF1B):c.4281C>T (p.Ser1427=)
|
rs148438684
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
|
rs748133009
|
0.00003
|
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=)
|
rs373334821
|
0.00003
|
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile)
|
rs561339487
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852
|
0.00003
|
NM_004990.4(MARS1):c.1369-11C>T
|
rs377436527
|
0.00003
|
NM_014874.4(MFN2):c.1873-16A>T
|
rs190961216
|
0.00003
|
NM_014874.4(MFN2):c.970+13A>G
|
rs771746625
|
0.00003
|
NM_030973.4(MED25):c.96C>T (p.Phe32=)
|
rs138246339
|
0.00003
|
NM_001365951.3(KIF1B):c.654C>T (p.His218=)
|
rs142209186
|
0.00002
|
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp)
|
rs1332342693
|
0.00002
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
rs201971718
|
0.00002
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694
|
0.00002
|
NM_001376.5(DYNC1H1):c.3765C>T (p.Thr1255=)
|
rs150953878
|
0.00002
|
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
|
rs776226690
|
0.00002
|
NM_001376.5(DYNC1H1):c.5717-8T>G
|
rs748085549
|
0.00002
|
NM_001376.5(DYNC1H1):c.6660G>A (p.Leu2220=)
|
rs567417919
|
0.00002
|
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
|
rs780160519
|
0.00002
|
NM_002047.4(GARS1):c.128C>T (p.Pro43Leu)
|
rs570608946
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=)
|
rs548270854
|
0.00001
|
NM_001303256.3(MORC2):c.2754T>C (p.Cys918=)
|
rs767914603
|
0.00001
|
NM_001303256.3(MORC2):c.894A>G (p.Val298=)
|
rs562612569
|
0.00001
|
NM_001376.5(DYNC1H1):c.11749A>C (p.Ser3917Arg)
|
rs201024297
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
|
rs749297332
|
0.00001
|
NM_001376.5(DYNC1H1):c.13449C>T (p.Ser4483=)
|
rs112444677
|
0.00001
|
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser)
|
rs571005578
|
0.00001
|
NM_001376.5(DYNC1H1):c.270T>C (p.Asp90=)
|
rs760330950
|
0.00001
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289
|
0.00001
|
NM_001376.5(DYNC1H1):c.5818-17C>A
|
rs563758908
|
0.00001
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
rs549582489
|
0.00001
|
NM_001376.5(DYNC1H1):c.7627G>A (p.Gly2543Arg)
|
rs892693926
|
0.00001
|
NM_001540.5(HSPB1):c.567C>T (p.Ala189=)
|
rs528301561
|
0.00001
|
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)
|
rs148659998
|
0.00001
|
NM_001605.3(AARS1):c.2287-13T>G
|
rs553083906
|
0.00001
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
NM_014874.4(MFN2):c.1806C>T (p.Ser602=)
|
rs201258935
|
0.00001
|
NM_014874.4(MFN2):c.801C>T (p.Pro267=)
|
rs201550384
|
0.00001
|
NM_030973.4(MED25):c.1143A>G (p.Pro381=)
|
rs200571306
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.948G>A (p.Lys316=)
|
rs778421025
|
0.00001
|
NM_000263.4(NAGLU):c.1021+15T>C
|
rs149434978
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
NM_000263.4(NAGLU):c.383+10del
|
|
|
NM_000263.4(NAGLU):c.764+20del
|
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_001005361.3(DNM2):c.1128+12dup
|
|
|
NM_001005361.3(DNM2):c.1196+643C>T
|
rs563985581
|
|
NM_001005361.3(DNM2):c.162-7C>A
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7dup
|
|
|
NM_001005361.3(DNM2):c.1782-5del
|
rs760441017
|
|
NM_001005361.3(DNM2):c.1782-5dup
|
rs760441017
|
|
NM_001005361.3(DNM2):c.386-6T>C
|
rs114623441
|
|
NM_001005373.4(LRSAM1):c.1913-5dup
|
|
|
NM_001005373.4(LRSAM1):c.253-15del
|
|
|
NM_001005373.4(LRSAM1):c.780+9dup
|
rs2132060965
|
|
NM_001122955.4(BSCL2):c.487-20A>T
|
rs115756273
|
|
NM_001122955.4(BSCL2):c.765+16G>A
|
rs183210574
|
|
NM_001303256.3(MORC2):c.1499-12dup
|
|
|
NM_001303256.3(MORC2):c.1813-3del
|
rs777649506
|
|
NM_001365951.3(KIF1B):c.1038-15dup
|
rs765965212
|
|
NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=)
|
rs530566864
|
|
NM_001365951.3(KIF1B):c.1777+7A>T
|
rs367898139
|
|
NM_001365951.3(KIF1B):c.184-6_184-5del
|
rs138324955
|
|
NM_001365951.3(KIF1B):c.3044-10del
|
rs758417740
|
|
NM_001365951.3(KIF1B):c.3044-10dup
|
|
|
NM_001365951.3(KIF1B):c.3864+20del
|
|
|
NM_001365951.3(KIF1B):c.4304+10del
|
|
|
NM_001365951.3(KIF1B):c.5408+11TTG[5]
|
rs371033478
|
|
NM_001365951.3(KIF1B):c.5409-16del
|
rs2102365749
|
|
NM_001376.5(DYNC1H1):c.11055+22dup
|
rs777865098
|
|
NM_001376.5(DYNC1H1):c.1122T>A (p.Ile374=)
|
rs777210028
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)
|
rs114906811
|
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
|
|
NM_001376.5(DYNC1H1):c.12355C>A (p.His4119Asn)
|
|
|
NM_001376.5(DYNC1H1):c.12564G>A (p.Ala4188=)
|
rs370064490
|
|
NM_001376.5(DYNC1H1):c.12685-3del
|
rs751203379
|
|
NM_001376.5(DYNC1H1):c.13118G>A (p.Arg4373His)
|
rs1366928812
|
|
NM_001376.5(DYNC1H1):c.13515+17C>G
|
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3015+18C>T
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.314T>C (p.Ile105Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3296A>G (p.Lys1099Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3565-12dup
|
|
|
NM_001376.5(DYNC1H1):c.3804+20del
|
|
|
NM_001376.5(DYNC1H1):c.6144A>G (p.Leu2048=)
|
|
|
NM_001376.5(DYNC1H1):c.6222-20C>A
|
rs200368499
|
|
NM_001376.5(DYNC1H1):c.6222-9_6222-7del
|
rs747347010
|
|
NM_001376.5(DYNC1H1):c.6324C>A (p.Ile2108=)
|
|
|
NM_001376.5(DYNC1H1):c.6858-15dup
|
|
|
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
|
rs769311346
|
|
NM_001376.5(DYNC1H1):c.7158G>A (p.Pro2386=)
|
rs773186619
|
|
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)
|
rs532073330
|
|
NM_001376.5(DYNC1H1):c.9469-8del
|
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=)
|
rs2295445
|
|
NM_001376.5(DYNC1H1):c.9643-6C>T
|
|
|
NM_001540.5(HSPB1):c.364+11dup
|
rs773836576
|
|
NM_001540.5(HSPB1):c.365-5dup
|
rs759570569
|
|
NM_001605.3(AARS1):c.1222+16del
|
rs748889882
|
|
NM_001605.3(AARS1):c.144+12del
|
|
|
NM_001605.3(AARS1):c.144+12dup
|
|
|
NM_001605.3(AARS1):c.1737C>T (p.Ile579=)
|
rs144323646
|
|
NM_001605.3(AARS1):c.1993-4G>A
|
rs528932248
|
|
NM_001605.3(AARS1):c.2287-7dup
|
|
|
NM_001605.3(AARS1):c.2608-16C>T
|
rs371163247
|
|
NM_002047.4(GARS1):c.1614-4G>A
|
rs376324026
|
|
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del)
|
rs150213018
|
|
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
|
|
|
NM_002180.3(IGHMBP2):c.1538-20C>T
|
rs147148090
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg)
|
rs572019890
|
|
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.86+7G>C
|
rs527948004
|
|
NM_004990.4(MARS1):c.1294-5C>T
|
rs149946100
|
|
NM_004990.4(MARS1):c.1539+7del
|
|
|
NM_004990.4(MARS1):c.1967+18del
|
rs1363373533
|
|
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
|
rs530730589
|
|
NM_004990.4(MARS1):c.2392-5dup
|
|
|
NM_004990.4(MARS1):c.2392-7_2392-5del
|
rs753118055
|
|
NM_004990.4(MARS1):c.2557-12C>G
|
rs189933911
|
|
NM_004990.4(MARS1):c.873C>T (p.Ala291=)
|
rs79531790
|
|
NM_004990.4(MARS1):c.887+17G>C
|
rs201259473
|
|
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)
|
rs3832558
|
|
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp)
|
rs532240912
|
|
NM_014874.4(MFN2):c.1495+10del
|
rs754692803
|
|
NM_014874.4(MFN2):c.1968C>G (p.Ala656=)
|
rs763381681
|
|
NM_014874.4(MFN2):c.2069+18A>G
|
rs551549595
|
|
NM_014874.4(MFN2):c.564C>T (p.Cys188=)
|
rs536007087
|
|
NM_015271.5(TRIM2):c.405T>G (p.Thr135=)
|
rs2289409
|
|
NM_015271.5(TRIM2):c.605+19A>C
|
|
|
NM_021625.5(TRPV4):c.1152+15dup
|
rs746148872
|
|
NM_021625.5(TRPV4):c.1584+17dup
|
rs1011607708
|
|
NM_021625.5(TRPV4):c.1584+18G>C
|
rs10850750
|
|
NM_021625.5(TRPV4):c.1585-14dup
|
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.2208+19del
|
rs1410930643
|
|
NM_021625.5(TRPV4):c.2337-16G>A
|
rs373195035
|
|
NM_021625.5(TRPV4):c.396G>A (p.Pro132=)
|
rs114101785
|
|
NM_030973.4(MED25):c.1101+24_1101+42dup
|
rs564179307
|
|
NM_030973.4(MED25):c.1231-5dup
|
rs778157941
|
|
NM_030973.4(MED25):c.1316+23del
|
|
|
NM_030973.4(MED25):c.1317-3del
|
rs2074062033
|
|
NM_030973.4(MED25):c.1369C>T (p.Leu457=)
|
rs566536708
|
|
NM_030973.4(MED25):c.1482+21dup
|
|
|
NM_030973.4(MED25):c.1674+19C>T
|
rs752522
|
|
NM_030973.4(MED25):c.2146+19G>T
|
rs568964675
|
|
NM_030973.4(MED25):c.2146+8del
|
|
|
NM_030973.4(MED25):c.234C>G (p.Pro78=)
|
rs74863643
|
|
NM_030973.4(MED25):c.525+20_525+34del
|
rs766617168
|
|
NM_030973.4(MED25):c.597C>A (p.Ala199=)
|
rs149788020
|
|
NM_170707.4(LMNA):c.1968+18dup
|
rs554157057
|
|