NM_018972.4(GDAP1):c.117+28G>A
|
rs4321999
|
0.99293
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_030962.4(SBF2):c.4571-6C>T
|
rs2645029
|
0.88084
|
NM_001005373.4(LRSAM1):c.903+38T>C
|
rs1539569
|
0.77244
|
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_006096.4(NDRG1):c.64-6T>C
|
rs2272653
|
0.65276
|
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_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422
|
0.56905
|
NM_001365951.3(KIF1B):c.1223-28C>T
|
rs3748575
|
0.55154
|
NM_004208.4(AIFM1):c.273T>C (p.Asp91=)
|
rs1139851
|
0.50355
|
NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_001005373.4(LRSAM1):c.904-9C>T
|
rs1539568
|
0.43695
|
NM_001005373.4(LRSAM1):c.750+33G>A
|
rs2250267
|
0.43666
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
NM_001376.5(DYNC1H1):c.12902+46G>A
|
rs2273440
|
0.35190
|
NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
0.34581
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_014845.6(FIG4):c.647-18C>A
|
rs2273752
|
0.33064
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=)
|
rs566204
|
0.28363
|
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874
|
0.27654
|
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=)
|
rs10844253
|
0.27488
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
NM_006736.6(DNAJB2):c.66-14C>T
|
rs2276638
|
0.26148
|
NM_001365951.3(KIF1B):c.720+17C>T
|
rs1339458
|
0.25792
|
NM_002180.3(IGHMBP2):c.1235+511T>C
|
rs3794027
|
0.25405
|
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=)
|
rs11052110
|
0.25239
|
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_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
NM_001376.5(DYNC1H1):c.4396-25A>G
|
rs2251644
|
0.20803
|
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_001376.5(DYNC1H1):c.8344-30G>A
|
rs2180510
|
0.20452
|
NM_002180.3(IGHMBP2):c.1235+519C>T
|
rs17533324
|
0.19249
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_002180.3(IGHMBP2):c.-2C>T
|
rs4930624
|
0.18778
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_018972.4(GDAP1):c.579+417A>G
|
rs16938894
|
0.18236
|
NM_030962.4(SBF2):c.753-16T>A
|
rs7128234
|
0.18140
|
NM_006415.4(SPTLC1):c.560+16G>C
|
rs73512337
|
0.16685
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_006736.6(DNAJB2):c.230-10G>A
|
rs3731897
|
0.16060
|
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262
|
0.15945
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_001376.5(DYNC1H1):c.3333+23A>G
|
rs4900529
|
0.15530
|
NM_001370298.3(FGD4):c.2047-7T>C
|
rs11052113
|
0.15340
|
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_181882.3(PRX):c.3248C>G (p.Pro1083Arg)
|
rs3745202
|
0.12427
|
NM_181882.3(PRX):c.306C>T (p.Thr102=)
|
rs744389
|
0.12409
|
NM_006096.4(NDRG1):c.756-5C>T
|
rs2227262
|
0.11176
|
NM_006736.6(DNAJB2):c.446-8G>A
|
rs3821039
|
0.10187
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236
|
0.09556
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438
|
0.09548
|
NM_001370298.3(FGD4):c.1750-12C>T
|
rs73083501
|
0.08885
|
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_030962.4(SBF2):c.2035G>A (p.Glu679Lys)
|
rs7102464
|
0.08286
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593
|
0.08113
|
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu)
|
rs12574508
|
0.07978
|
NM_001370298.3(FGD4):c.1404+8G>A
|
rs12823621
|
0.07737
|
NM_014874.4(MFN2):c.2204+15T>C
|
rs77262016
|
0.07571
|
NM_002180.3(IGHMBP2):c.1418+18A>G
|
rs112575423
|
0.06280
|
NM_000371.4(TTR):c.337-18G>C
|
rs36204272
|
0.06198
|
NM_006096.4(NDRG1):c.755+10T>C
|
rs2233336
|
0.06123
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_030962.4(SBF2):c.909C>T (p.Pro303=)
|
rs16907355
|
0.05858
|
NM_014845.6(FIG4):c.2377-19T>C
|
rs72944974
|
0.05800
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)
|
rs1800458
|
0.05309
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_018972.4(GDAP1):c.485-20C>G
|
rs73345392
|
0.04498
|
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133
|
0.04462
|
NM_014874.4(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837
|
0.04459
|
NM_006415.4(SPTLC1):c.1136+12A>G
|
rs76562923
|
0.04351
|
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_014845.6(FIG4):c.67-7T>C
|
rs56378532
|
0.04073
|
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577
|
0.04066
|
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)
|
rs61735578
|
0.03636
|
NM_001365951.3(KIF1B):c.4946+9C>T
|
rs72867431
|
0.03521
|
NM_014845.6(FIG4):c.2377-20_2377-19insC
|
rs201752617
|
0.03507
|
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_001365951.3(KIF1B):c.3423-15del
|
rs3215996
|
0.03458
|
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_181882.3(PRX):c.2017A>G (p.Met673Val)
|
rs61735531
|
0.03414
|
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=)
|
rs78120278
|
0.03339
|
NM_181882.3(PRX):c.2727C>T (p.Pro909=)
|
rs61735546
|
0.03308
|
NM_004208.4(AIFM1):c.918C>T (p.Ile306=)
|
rs12014115
|
0.03205
|
NM_001365951.3(KIF1B):c.1180+18C>T
|
rs41274456
|
0.03074
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_004208.4(AIFM1):c.996A>G (p.Gln332=)
|
rs12007545
|
0.03061
|
NM_030962.4(SBF2):c.4933-15T>C
|
rs75447733
|
0.03044
|
NM_001376.5(DYNC1H1):c.9469-20A>T
|
rs2720210
|
0.03010
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293
|
0.02854
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_001540.5(HSPB1):c.*11C>T
|
rs1058872
|
0.02598
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227
|
0.02289
|
NM_014874.4(MFN2):c.159C>T (p.Ser53=)
|
rs61733200
|
0.02240
|
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803
|
0.02130
|
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser)
|
rs73933276
|
0.02067
|
NM_030962.4(SBF2):c.3794-20C>T
|
rs116966215
|
0.02037
|
NM_001365951.3(KIF1B):c.608+8dup
|
rs139613776
|
0.01962
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129
|
0.01960
|
NM_016156.6(MTMR2):c.80+13C>T
|
rs139510268
|
0.01848
|
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_030962.4(SBF2):c.3111-6T>C
|
rs16907139
|
0.01676
|
NM_001376.5(DYNC1H1):c.3960+16G>A
|
rs11850726
|
0.01643
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=)
|
rs60803891
|
0.01632
|
NM_021625.5(TRPV4):c.387-4C>T
|
rs12305439
|
0.01630
|
NM_030962.4(SBF2):c.2850C>T (p.Ile950=)
|
rs74642088
|
0.01620
|
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)
|
rs113897932
|
0.01619
|
NM_030973.4(MED25):c.1483-7C>T
|
rs2017698
|
0.01612
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770
|
0.01578
|
NM_030962.4(SBF2):c.513+17G>C
|
rs73410819
|
0.01551
|
NM_030973.4(MED25):c.-12A>G
|
rs114843375
|
0.01532
|
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_181882.3(PRX):c.471G>A (p.Glu157=)
|
rs4803335
|
0.01488
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_001370298.3(FGD4):c.1954-8T>C
|
rs115061722
|
0.01466
|
NM_006415.4(SPTLC1):c.1255-7C>T
|
rs7863487
|
0.01454
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_181882.3(PRX):c.731C>T (p.Ala244Val)
|
rs118071705
|
0.01410
|
NM_014874.4(MFN2):c.2205-13C>A
|
rs76020240
|
0.01362
|
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu)
|
rs61999305
|
0.01293
|
NM_006096.4(NDRG1):c.892-5C>T
|
rs2233346
|
0.01290
|
NM_006415.4(SPTLC1):c.781-6A>G
|
rs138268337
|
0.01288
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_006096.4(NDRG1):c.306C>T (p.Gly102=)
|
rs2233322
|
0.01251
|
NM_014845.6(FIG4):c.*7C>T
|
rs113946190
|
0.01145
|
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155
|
0.01137
|
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_181882.3(PRX):c.3218A>G (p.Glu1073Gly)
|
rs61733451
|
0.01078
|
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=)
|
rs116089798
|
0.01068
|
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln)
|
rs146789340
|
0.01068
|
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)
|
rs79251068
|
0.01066
|
NM_001136472.2(LITAF):c.234G>A (p.Thr78=)
|
rs9282774
|
0.00987
|
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_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206
|
0.00946
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
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_006096.4(NDRG1):c.199A>G (p.Met67Val)
|
rs2233319
|
0.00829
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=)
|
rs34768188
|
0.00793
|
NM_001370298.3(FGD4):c.1247+10G>T
|
rs41276676
|
0.00792
|
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_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_030962.4(SBF2):c.1173A>G (p.Ala391=)
|
rs79470805
|
0.00687
|
NM_001376.5(DYNC1H1):c.5433+17dup
|
rs140185574
|
0.00680
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_181882.3(PRX):c.2469G>A (p.Ala823=)
|
rs61733450
|
0.00644
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_000304.4(PMP22):c.179-17G>A
|
rs77406217
|
0.00621
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_181882.3(PRX):c.4044G>C (p.Gly1348=)
|
rs76088917
|
0.00620
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_030973.4(MED25):c.2056C>T (p.Leu686=)
|
rs201969940
|
0.00598
|
NM_014874.4(MFN2):c.744C>T (p.Leu248=)
|
rs61733205
|
0.00591
|
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512
|
0.00587
|
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_001370298.3(FGD4):c.1143G>A (p.Ser381=)
|
rs34555341
|
0.00555
|
NM_004208.4(AIFM1):c.1833T>C (p.His611=)
|
rs73556209
|
0.00551
|
NM_181882.3(PRX):c.1281C>T (p.Ile427=)
|
rs76960467
|
0.00551
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577
|
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_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
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_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
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_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753
|
0.00494
|
NM_006096.4(NDRG1):c.-18-2_-18-1del
|
rs371927413
|
0.00490
|
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)
|
rs116302604
|
0.00481
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=)
|
rs13436308
|
0.00462
|
NM_006096.4(NDRG1):c.879G>A (p.Pro293=)
|
rs2233340
|
0.00458
|
NM_030973.4(MED25):c.1794C>T (p.Ala598=)
|
rs185100172
|
0.00456
|
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)
|
rs117336941
|
0.00456
|
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_001376.5(DYNC1H1):c.-5A>G
|
rs17511858
|
0.00446
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_001365951.3(KIF1B):c.4753-20C>A
|
rs192598799
|
0.00436
|
NM_004990.4(MARS1):c.1753+7A>G
|
rs117914586
|
0.00435
|
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_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
NM_014845.6(FIG4):c.*14C>T
|
rs114136062
|
0.00408
|
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630
|
0.00407
|
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
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_016156.6(MTMR2):c.570+11T>C
|
rs182582445
|
0.00390
|
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291
|
0.00390
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_006736.6(DNAJB2):c.*17G>T
|
rs190436506
|
0.00346
|
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884
|
0.00337
|
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_181882.3(PRX):c.3802G>C (p.Ala1268Pro)
|
rs146061247
|
0.00332
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
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_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_014874.4(MFN2):c.*15G>A
|
rs141339523
|
0.00292
|
NM_181882.3(PRX):c.554G>A (p.Arg185His)
|
rs76756143
|
0.00292
|
NM_181882.3(PRX):c.3702C>T (p.Gly1234=)
|
rs139950446
|
0.00291
|
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=)
|
rs141289653
|
0.00290
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_181882.3(PRX):c.3846G>A (p.Ser1282=)
|
rs143289108
|
0.00288
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_018972.4(GDAP1):c.117+12C>G
|
rs202059380
|
0.00284
|
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)
|
rs141292904
|
0.00272
|
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=)
|
rs141324245
|
0.00268
|
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_181882.3(PRX):c.892C>T (p.Pro298Ser)
|
rs185112635
|
0.00262
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00260
|
NM_181882.3(PRX):c.2043C>T (p.Pro681=)
|
rs56743160
|
0.00259
|
NM_001136472.2(LITAF):c.333C>T (p.Ala111=)
|
rs34448402
|
0.00256
|
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_030973.4(MED25):c.2088G>A (p.Leu696=)
|
rs371157406
|
0.00252
|
NM_004990.4(MARS1):c.2204+11G>A
|
rs202080192
|
0.00239
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)
|
rs117525287
|
0.00228
|
NM_024577.4(SH3TC2):c.3479-8A>G
|
rs147800229
|
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_001370298.3(FGD4):c.647C>T (p.Thr216Ile)
|
rs145115430
|
0.00213
|
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_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=)
|
rs78611156
|
0.00200
|
NM_181882.3(PRX):c.445G>A (p.Ala149Thr)
|
rs142436391
|
0.00193
|
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892
|
0.00191
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421
|
0.00190
|
NM_030973.4(MED25):c.688+17G>A
|
rs373952366
|
0.00188
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_001365951.3(KIF1B):c.*2T>C
|
rs148690591
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839
|
0.00183
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)
|
rs139406455
|
0.00175
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
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_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_030973.4(MED25):c.819+14C>T
|
rs188257265
|
0.00166
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
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_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)
|
rs2228208
|
0.00157
|
NM_024577.4(SH3TC2):c.2873-18T>C
|
rs113514936
|
0.00154
|
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_024577.4(SH3TC2):c.1177+10G>A
|
rs139257109
|
0.00153
|
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)
|
rs147066476
|
0.00150
|
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956
|
0.00149
|
NM_021625.5(TRPV4):c.1585-18C>T
|
rs201974634
|
0.00148
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386
|
0.00144
|
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro)
|
rs376436045
|
0.00141
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127
|
0.00133
|
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=)
|
rs117804174
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
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_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882
|
0.00128
|
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_024577.4(SH3TC2):c.2322C>T (p.Asp774=)
|
rs17795193
|
0.00125
|
NM_030973.4(MED25):c.396C>T (p.Arg132=)
|
rs142353864
|
0.00125
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_002180.3(IGHMBP2):c.*3G>A
|
rs372949830
|
0.00121
|
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)
|
rs143792929
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)
|
rs116719245
|
0.00120
|
NM_001365951.3(KIF1B):c.3259+9A>G
|
rs149566646
|
0.00118
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile)
|
rs143421325
|
0.00112
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_001376.5(DYNC1H1):c.4185+20C>T
|
rs74948967
|
0.00110
|
NM_030973.4(MED25):c.354C>T (p.Leu118=)
|
rs145574885
|
0.00110
|
NM_004208.4(AIFM1):c.606-15C>T
|
rs191297808
|
0.00109
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_001365951.3(KIF1B):c.5097-9C>T
|
rs376873833
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183
|
0.00108
|
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=)
|
rs140904010
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)
|
rs188104446
|
0.00106
|
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_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_030973.4(MED25):c.151C>T (p.Pro51Ser)
|
rs147869920
|
0.00104
|
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_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)
|
rs35058636
|
0.00096
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=)
|
rs147954772
|
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_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
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_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=)
|
rs11228414
|
0.00085
|
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_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321
|
0.00081
|
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=)
|
rs141998703
|
0.00077
|
NM_000371.4(TTR):c.*3_*11del
|
rs143948820
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910
|
0.00074
|
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu)
|
rs149501654
|
0.00074
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_002180.3(IGHMBP2):c.1418+11C>T
|
rs201279838
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=)
|
rs77833016
|
0.00067
|
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=)
|
rs140336379
|
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_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_001005373.4(LRSAM1):c.406+15G>T
|
rs201808404
|
0.00064
|
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp)
|
rs149456922
|
0.00063
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
NM_001136472.2(LITAF):c.330C>T (p.Asn110=)
|
rs139116481
|
0.00062
|
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)
|
rs150549628
|
0.00062
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00061
|
NM_004990.4(MARS1):c.663+11G>A
|
rs76150936
|
0.00061
|
NM_014874.4(MFN2):c.-4-13G>T
|
rs373679523
|
0.00060
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_014874.4(MFN2):c.1495+9C>T
|
rs375494746
|
0.00059
|
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823
|
0.00059
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)
|
rs118003416
|
0.00059
|
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=)
|
rs140805390
|
0.00058
|
NM_021625.5(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793
|
0.00058
|
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)
|
rs139586219
|
0.00058
|
NM_018972.4(GDAP1):c.459G>A (p.Pro153=)
|
rs149804782
|
0.00057
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_014845.6(FIG4):c.2377-18T>C
|
rs560214203
|
0.00056
|
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=)
|
rs200665714
|
0.00056
|
NM_006096.4(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318
|
0.00054
|
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)
|
rs541606391
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00053
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_001136472.2(LITAF):c.6G>A (p.Ser2=)
|
rs147187481
|
0.00052
|
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=)
|
rs150831576
|
0.00052
|
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)
|
rs139661803
|
0.00052
|
NM_004208.4(AIFM1):c.72C>T (p.Cys24=)
|
rs373609902
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=)
|
rs17540735
|
0.00049
|
NM_002180.3(IGHMBP2):c.*6C>T
|
rs117995705
|
0.00049
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)
|
rs147772705
|
0.00048
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699
|
0.00047
|
NM_030973.4(MED25):c.689-3C>T
|
rs199623358
|
0.00047
|
NM_181882.3(PRX):c.1651G>A (p.Val551Met)
|
rs61733448
|
0.00047
|
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)
|
rs139572764
|
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_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_030973.4(MED25):c.664C>T (p.Leu222=)
|
rs147538736
|
0.00046
|
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser)
|
rs148059394
|
0.00045
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756
|
0.00045
|
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr)
|
rs149244124
|
0.00045
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_000166.6(GJB1):c.-6G>A
|
rs201344743
|
0.00043
|
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418
|
0.00043
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_030973.4(MED25):c.1677G>C (p.Met559Ile)
|
rs369006637
|
0.00041
|
NM_181882.3(PRX):c.2101G>A (p.Val701Met)
|
rs116855701
|
0.00041
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
NM_002047.4(GARS1):c.428-17C>T
|
rs370452042
|
0.00040
|
NM_004990.4(MARS1):c.792G>A (p.Arg264=)
|
rs141609469
|
0.00040
|
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339
|
0.00039
|
NM_004637.6(RAB7A):c.87G>A (p.Val29=)
|
rs145441548
|
0.00039
|
NM_006096.4(NDRG1):c.944-13C>T
|
rs753312340
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu)
|
rs148615702
|
0.00038
|
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=)
|
rs145345364
|
0.00038
|
NM_000530.8(MPZ):c.24C>T (p.Ser8=)
|
rs144841836
|
0.00037
|
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr)
|
rs142567076
|
0.00037
|
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_002047.4(GARS1):c.1904-18T>C
|
rs41275991
|
0.00036
|
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00036
|
NM_181882.3(PRX):c.540G>A (p.Pro180=)
|
rs371243093
|
0.00036
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=)
|
rs150756641
|
0.00035
|
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)
|
rs202119177
|
0.00035
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_030962.4(SBF2):c.705T>C (p.Ser235=)
|
rs143209062
|
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_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln)
|
rs369439346
|
0.00031
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=)
|
rs145846362
|
0.00031
|
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=)
|
rs146666910
|
0.00031
|
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)
|
rs200732890
|
0.00030
|
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met)
|
rs148383122
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367
|
0.00030
|
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=)
|
rs140296831
|
0.00029
|
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)
|
rs147409148
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=)
|
rs146841400
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_181882.3(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566
|
0.00029
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_030962.4(SBF2):c.1623G>A (p.Thr541=)
|
rs184849947
|
0.00028
|
NM_030973.4(MED25):c.1434G>A (p.Lys478=)
|
rs181389801
|
0.00028
|
NM_001376.5(DYNC1H1):c.12513+17C>T
|
rs368189529
|
0.00027
|
NM_030962.4(SBF2):c.513+18A>T
|
rs201201683
|
0.00027
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
NM_030973.4(MED25):c.1062C>T (p.Ser354=)
|
rs140345077
|
0.00026
|
NM_004990.4(MARS1):c.415-5C>A
|
rs747351446
|
0.00025
|
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465
|
0.00024
|
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=)
|
rs373990000
|
0.00024
|
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)
|
rs145266399
|
0.00024
|
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)
|
rs41274468
|
0.00024
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
0.00024
|
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172
|
0.00024
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175
|
0.00023
|
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326
|
0.00022
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179
|
0.00022
|
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
|
rs552856153
|
0.00022
|
NM_021625.5(TRPV4):c.1584+12G>T
|
rs375908611
|
0.00022
|
NM_030973.4(MED25):c.134+20C>T
|
rs372600662
|
0.00022
|
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val)
|
rs149732789
|
0.00022
|
NM_181882.3(PRX):c.993G>A (p.Pro331=)
|
rs146323928
|
0.00022
|
NM_001365951.3(KIF1B):c.4753-9C>T
|
rs375366137
|
0.00021
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810
|
0.00021
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647
|
0.00020
|
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=)
|
rs112261870
|
0.00020
|
NM_006096.4(NDRG1):c.63+6T>C
|
rs199597649
|
0.00020
|
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
|
rs34227547
|
0.00020
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=)
|
rs140229905
|
0.00019
|
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=)
|
rs75113705
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His)
|
rs201640213
|
0.00019
|
NM_002180.3(IGHMBP2):c.366C>T (p.His122=)
|
rs144401213
|
0.00019
|
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
|
rs151196994
|
0.00019
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=)
|
rs182893450
|
0.00019
|
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)
|
rs138120231
|
0.00019
|
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)
|
rs757322355
|
0.00019
|
NM_000166.6(GJB1):c.30C>T (p.Leu10=)
|
rs183702021
|
0.00018
|
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)
|
rs150904940
|
0.00018
|
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726
|
0.00018
|
NM_030973.4(MED25):c.247C>G (p.Gln83Glu)
|
rs143148835
|
0.00018
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835
|
0.00017
|
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)
|
rs142881321
|
0.00017
|
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=)
|
rs112811548
|
0.00017
|
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
NM_014874.4(MFN2):c.444C>T (p.Thr148=)
|
rs373038884
|
0.00017
|
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu)
|
rs201393544
|
0.00017
|
NM_001365951.3(KIF1B):c.608+14T>G
|
rs151026584
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_021625.5(TRPV4):c.1658+15C>T
|
rs200083069
|
0.00016
|
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787
|
0.00016
|
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427
|
0.00016
|
NM_030962.4(SBF2):c.2319G>A (p.Ala773=)
|
rs201547070
|
0.00016
|
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val)
|
rs147438385
|
0.00016
|
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=)
|
rs147597665
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_181882.3(PRX):c.1578G>A (p.Ser526=)
|
rs567690884
|
0.00016
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114
|
0.00015
|
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009
|
0.00015
|
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=)
|
rs139179261
|
0.00015
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_030962.4(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_181882.3(PRX):c.-20A>C
|
rs780315081
|
0.00015
|
NM_000304.4(PMP22):c.87C>T (p.Ile29=)
|
rs201192820
|
0.00014
|
NM_001365951.3(KIF1B):c.4946+10C>T
|
rs374982816
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479
|
0.00014
|
NM_001605.3(AARS1):c.1108A>G (p.Met370Val)
|
rs199976742
|
0.00014
|
NM_002047.4(GARS1):c.1743G>C (p.Leu581=)
|
rs370844461
|
0.00014
|
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)
|
rs746056671
|
0.00014
|
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys)
|
rs192806153
|
0.00014
|
NM_002180.3(IGHMBP2):c.2612-16C>T
|
rs200337900
|
0.00014
|
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)
|
rs750369546
|
0.00014
|
NM_006096.4(NDRG1):c.393G>A (p.Leu131=)
|
rs149767690
|
0.00014
|
NM_014874.4(MFN2):c.474+4A>G
|
rs141974160
|
0.00014
|
NM_014874.4(MFN2):c.870C>T (p.Gly290=)
|
rs368302487
|
0.00014
|
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678
|
0.00014
|
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748
|
0.00014
|
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=)
|
rs374624466
|
0.00014
|
NM_021625.5(TRPV4):c.732C>T (p.Ile244=)
|
rs142647385
|
0.00014
|
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771
|
0.00014
|
NM_030973.4(MED25):c.1747-19_1747-18del
|
rs752695799
|
0.00014
|
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611
|
0.00014
|
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)
|
rs201500946
|
0.00013
|
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)
|
rs140220443
|
0.00013
|
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)
|
rs199679500
|
0.00013
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519
|
0.00013
|
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu)
|
rs150873930
|
0.00013
|
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala)
|
rs370622071
|
0.00013
|
NM_006158.5(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919
|
0.00013
|
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
rs758191113
|
0.00013
|
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
|
rs750251152
|
0.00013
|
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe)
|
rs202066574
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
|
rs370994862
|
0.00013
|
NM_030973.4(MED25):c.1533C>T (p.Leu511=)
|
rs376038328
|
0.00013
|
NM_030973.4(MED25):c.305+17T>G
|
rs763308680
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_181882.3(PRX):c.794G>T (p.Gly265Val)
|
rs374837022
|
0.00013
|
NM_001365951.3(KIF1B):c.1180+19G>A
|
rs200480069
|
0.00012
|
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)
|
rs749154726
|
0.00012
|
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
|
rs552529704
|
0.00012
|
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=)
|
rs373636782
|
0.00012
|
NM_006158.5(NEFL):c.423G>A (p.Gln141=)
|
rs59161567
|
0.00012
|
NM_014845.6(FIG4):c.1271+5A>G
|
rs374583399
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser)
|
rs200819602
|
0.00012
|
NM_000304.4(PMP22):c.402C>T (p.Phe134=)
|
rs536417866
|
0.00011
|
NM_001005373.4(LRSAM1):c.751-8C>G
|
rs367823841
|
0.00011
|
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)
|
rs143251785
|
0.00011
|
NM_001376.5(DYNC1H1):c.257-20A>G
|
rs201905359
|
0.00011
|
NM_001540.5(HSPB1):c.365-7C>G
|
rs201897299
|
0.00011
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
NM_002180.3(IGHMBP2):c.2612-14C>T
|
rs200940488
|
0.00011
|
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=)
|
rs141265918
|
0.00011
|
NM_014845.6(FIG4):c.1305G>C (p.Val435=)
|
rs145227623
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=)
|
rs138301077
|
0.00011
|
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255
|
0.00011
|
NM_030973.4(MED25):c.689T>C (p.Val230Ala)
|
rs199982073
|
0.00011
|
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)
|
rs774817302
|
0.00011
|
NM_181882.3(PRX):c.1129G>T (p.Val377Leu)
|
rs754081921
|
0.00011
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234
|
0.00010
|
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser)
|
rs371595630
|
0.00010
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730
|
0.00010
|
NM_005391.5(PDK3):c.674-11T>C
|
rs756028485
|
0.00010
|
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
|
rs370153201
|
0.00010
|
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
|
rs372245403
|
0.00010
|
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser)
|
rs145654854
|
0.00010
|
NM_014874.4(MFN2):c.2112C>T (p.Asp704=)
|
rs374371748
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_016156.6(MTMR2):c.1594-20C>A
|
rs201996397
|
0.00010
|
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val)
|
rs149476960
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
NM_024577.4(SH3TC2):c.529+8T>A
|
rs780594631
|
0.00010
|
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=)
|
rs779808918
|
0.00010
|
NM_030962.4(SBF2):c.4809C>T (p.His1603=)
|
rs199670153
|
0.00010
|
NM_030973.4(MED25):c.1377C>T (p.Thr459=)
|
rs374928221
|
0.00010
|
NM_001005373.4(LRSAM1):c.1830+20A>G
|
rs199932024
|
0.00009
|
NM_001005373.4(LRSAM1):c.2046+16T>C
|
rs753575542
|
0.00009
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)
|
rs374098797
|
0.00009
|
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)
|
rs373698346
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+9G>A
|
rs374678076
|
0.00009
|
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=)
|
rs147905977
|
0.00009
|
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=)
|
rs201720217
|
0.00009
|
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=)
|
rs202023896
|
0.00009
|
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)
|
rs201132307
|
0.00009
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799
|
0.00009
|
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)
|
rs781350745
|
0.00009
|
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr)
|
rs146331370
|
0.00009
|
NM_005391.5(PDK3):c.751-10A>G
|
rs372774822
|
0.00009
|
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe)
|
rs369803886
|
0.00009
|
NM_014845.6(FIG4):c.2459+7T>G
|
rs575271308
|
0.00009
|
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=)
|
rs372937811
|
0.00009
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)
|
rs756599272
|
0.00009
|
NM_024577.4(SH3TC2):c.280-5C>T
|
rs201937366
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_030962.4(SBF2):c.280-5T>C
|
rs368118378
|
0.00009
|
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=)
|
rs376788960
|
0.00009
|
NM_000399.5(EGR2):c.222A>G (p.Pro74=)
|
rs201068734
|
0.00008
|
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454
|
0.00008
|
NM_001376.5(DYNC1H1):c.12102+20C>T
|
rs200362531
|
0.00008
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)
|
rs200339812
|
0.00008
|
NM_001540.5(HSPB1):c.428+13G>T
|
rs553117142
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=)
|
rs146286133
|
0.00008
|
NM_002180.3(IGHMBP2):c.548-20C>T
|
rs368802434
|
0.00008
|
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
|
rs748377952
|
0.00008
|
NM_004990.4(MARS1):c.771-15C>G
|
rs201328384
|
0.00008
|
NM_006158.5(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413
|
0.00008
|
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)
|
rs748723735
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_014845.6(FIG4):c.918C>T (p.Cys306=)
|
rs369159531
|
0.00008
|
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs146364285
|
0.00008
|
NM_030962.4(SBF2):c.5231+14C>T
|
rs371184526
|
0.00008
|
NM_030962.4(SBF2):c.946C>T (p.Leu316=)
|
rs374841593
|
0.00008
|
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr)
|
rs368459753
|
0.00008
|
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg)
|
rs758057597
|
0.00008
|
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
|
rs780147663
|
0.00008
|
NM_000371.4(TTR):c.280G>C (p.Asp94His)
|
rs730881164
|
0.00007
|
NM_001365951.3(KIF1B):c.1557T>C (p.Asp519=)
|
rs146364486
|
0.00007
|
NM_001376.5(DYNC1H1):c.3804+9C>T
|
rs377635872
|
0.00007
|
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys)
|
rs138490305
|
0.00007
|
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970
|
0.00007
|
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)
|
rs202118022
|
0.00007
|
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
|
rs146689226
|
0.00007
|
NM_014845.6(FIG4):c.498-13A>G
|
rs199891240
|
0.00007
|
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)
|
rs755608041
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932
|
0.00007
|
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804
|
0.00007
|
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln)
|
rs757836523
|
0.00007
|
NM_030973.4(MED25):c.1227A>G (p.Gln409=)
|
rs769851706
|
0.00007
|
NM_181882.3(PRX):c.922A>G (p.Thr308Ala)
|
rs753330520
|
0.00007
|
NM_000166.6(GJB1):c.441C>T (p.Ala147=)
|
rs765686240
|
0.00006
|
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435
|
0.00006
|
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
|
rs768672234
|
0.00006
|
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=)
|
rs765541693
|
0.00006
|
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)
|
rs373317658
|
0.00006
|
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=)
|
rs759525537
|
0.00006
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
0.00006
|
NM_002180.3(IGHMBP2):c.*18C>T
|
rs370227350
|
0.00006
|
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln)
|
rs138448914
|
0.00006
|
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)
|
rs1175521163
|
0.00006
|
NM_004637.6(RAB7A):c.180+9A>G
|
rs762831187
|
0.00006
|
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392
|
0.00006
|
NM_006158.5(NEFL):c.1169+14G>A
|
rs1281585043
|
0.00006
|
NM_006415.4(SPTLC1):c.1254+10C>T
|
rs200704785
|
0.00006
|
NM_014845.6(FIG4):c.2154A>G (p.Pro718=)
|
rs201138266
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His)
|
rs142460913
|
0.00006
|
NM_018972.4(GDAP1):c.720C>T (p.Cys240=)
|
rs367790253
|
0.00006
|
NM_018972.4(GDAP1):c.90T>C (p.His30=)
|
rs555369956
|
0.00006
|
NM_021625.5(TRPV4):c.746G>A (p.Arg249His)
|
rs771294425
|
0.00006
|
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776
|
0.00006
|
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_030962.4(SBF2):c.2598G>A (p.Pro866=)
|
rs376372877
|
0.00006
|
NM_030962.4(SBF2):c.4687T>C (p.Leu1563=)
|
rs563878786
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170707.4(LMNA):c.1770C>T (p.Thr590=)
|
rs397517896
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_181882.3(PRX):c.1500A>G (p.Ser500=)
|
rs777104457
|
0.00006
|
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)
|
rs537664679
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln)
|
rs377009047
|
0.00006
|
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)
|
rs146468976
|
0.00006
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_181882.3(PRX):c.597C>T (p.Ala199=)
|
rs144157275
|
0.00006
|
NM_181882.3(PRX):c.839C>T (p.Pro280Leu)
|
rs557355077
|
0.00006
|
NM_000166.6(GJB1):c.627G>T (p.Val209=)
|
rs376113695
|
0.00005
|
NM_000304.4(PMP22):c.152A>G (p.His51Arg)
|
rs368908933
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
NM_001365951.3(KIF1B):c.3423-15A>T
|
rs200470260
|
0.00005
|
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)
|
rs772548887
|
0.00005
|
NM_001376.5(DYNC1H1):c.519-17A>G
|
rs370195127
|
0.00005
|
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=)
|
rs142726284
|
0.00005
|
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436
|
0.00005
|
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)
|
rs777201941
|
0.00005
|
NM_002047.4(GARS1):c.1904-19del
|
rs745958570
|
0.00005
|
NM_002047.4(GARS1):c.816A>G (p.Leu272=)
|
rs777128525
|
0.00005
|
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
rs199770424
|
0.00005
|
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)
|
rs373001247
|
0.00005
|
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388
|
0.00005
|
NM_004208.4(AIFM1):c.249+1258T>C
|
rs753318816
|
0.00005
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
0.00005
|
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
|
rs199651811
|
0.00005
|
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
|
rs545966662
|
0.00005
|
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)
|
rs199624080
|
0.00005
|
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn)
|
rs200210023
|
0.00005
|
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367
|
0.00005
|
NM_030973.4(MED25):c.1572C>T (p.Gly524=)
|
rs559482732
|
0.00005
|
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
rs762213719
|
0.00005
|
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
|
rs775221457
|
0.00005
|
NM_181882.3(PRX):c.642C>A (p.Pro214=)
|
rs551628239
|
0.00005
|
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.386C>T (p.Ala129Val)
|
rs121918092
|
0.00004
|
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540
|
0.00004
|
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His)
|
rs537838691
|
0.00004
|
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile)
|
rs746831085
|
0.00004
|
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile)
|
rs772202137
|
0.00004
|
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179
|
0.00004
|
NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=)
|
rs146079606
|
0.00004
|
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=)
|
rs200527839
|
0.00004
|
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met)
|
rs775480266
|
0.00004
|
NM_001136472.2(LITAF):c.221-16C>T
|
rs778890222
|
0.00004
|
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg)
|
rs551543997
|
0.00004
|
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=)
|
rs200858074
|
0.00004
|
NM_001365951.3(KIF1B):c.3259+3A>C
|
rs1388178227
|
0.00004
|
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
rs769092155
|
0.00004
|
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)
|
rs572314710
|
0.00004
|
NM_001370298.3(FGD4):c.1922+11C>T
|
rs765969178
|
0.00004
|
NM_001376.5(DYNC1H1):c.10626+7A>G
|
rs1427174553
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)
|
rs758877590
|
0.00004
|
NM_001376.5(DYNC1H1):c.11596-20G>A
|
rs372623721
|
0.00004
|
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=)
|
rs1022735666
|
0.00004
|
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=)
|
rs749887344
|
0.00004
|
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.8637+9C>T
|
rs202042156
|
0.00004
|
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=)
|
rs372493817
|
0.00004
|
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=)
|
rs572233805
|
0.00004
|
NM_001540.5(HSPB1):c.-15G>A
|
rs756260929
|
0.00004
|
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
|
rs780988351
|
0.00004
|
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp)
|
rs377163632
|
0.00004
|
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
|
rs143370729
|
0.00004
|
NM_002047.4(GARS1):c.1032-14G>A
|
rs766263055
|
0.00004
|
NM_002047.4(GARS1):c.1158C>T (p.Ser386=)
|
rs373576697
|
0.00004
|
NM_002047.4(GARS1):c.1737C>T (p.Phe579=)
|
rs752464405
|
0.00004
|
NM_002047.4(GARS1):c.282A>G (p.Ala94=)
|
rs571004464
|
0.00004
|
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271
|
0.00004
|
NM_002180.3(IGHMBP2):c.2612-15G>A
|
rs372230504
|
0.00004
|
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln)
|
rs150123428
|
0.00004
|
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys)
|
rs1057517852
|
0.00004
|
NM_004208.4(AIFM1):c.939C>T (p.Ser313=)
|
rs768118991
|
0.00004
|
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
|
rs779123068
|
0.00004
|
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
|
rs141397530
|
0.00004
|
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
|
rs745584505
|
0.00004
|
NM_006096.4(NDRG1):c.594+9C>T
|
rs373172944
|
0.00004
|
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
|
rs551078982
|
0.00004
|
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu)
|
rs200773661
|
0.00004
|
NM_006736.6(DNAJB2):c.352+20C>G
|
rs755259886
|
0.00004
|
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)
|
rs200554674
|
0.00004
|
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu)
|
rs540759977
|
0.00004
|
NM_014845.6(FIG4):c.2180+20C>T
|
rs372359387
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)
|
rs376598131
|
0.00004
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
NM_016156.6(MTMR2):c.186+9A>G
|
rs371081575
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
|
rs770364304
|
0.00004
|
NM_021625.5(TRPV4):c.1492-17C>T
|
rs533510842
|
0.00004
|
NM_021625.5(TRPV4):c.1899C>T (p.Val633=)
|
rs753027239
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_021625.5(TRPV4):c.936G>A (p.Ala312=)
|
rs202084699
|
0.00004
|
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)
|
rs771921298
|
0.00004
|
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192
|
0.00004
|
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
|
rs372749343
|
0.00004
|
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
|
rs143197881
|
0.00004
|
NM_024577.4(SH3TC2):c.3479-20C>T
|
rs376784930
|
0.00004
|
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632
|
0.00004
|
NM_030962.4(SBF2):c.1015C>G (p.Pro339Ala)
|
rs1360970766
|
0.00004
|
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln)
|
rs188588431
|
0.00004
|
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln)
|
rs546485749
|
0.00004
|
NM_030962.4(SBF2):c.1601-20T>C
|
rs200518136
|
0.00004
|
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=)
|
rs766353139
|
0.00004
|
NM_030973.4(MED25):c.2046G>A (p.Pro682=)
|
rs755620011
|
0.00004
|
NM_030973.4(MED25):c.4G>C (p.Val2Leu)
|
rs780512266
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser)
|
rs150244426
|
0.00004
|
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys)
|
rs772009400
|
0.00004
|
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln)
|
rs752531623
|
0.00004
|
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
|
rs188765166
|
0.00004
|
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
|
rs367862999
|
0.00004
|
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln)
|
rs759435622
|
0.00004
|
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala)
|
rs368067072
|
0.00004
|
NM_181882.3(PRX):c.747C>T (p.Pro249=)
|
rs3814289
|
0.00004
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
|
rs745823802
|
0.00003
|
NM_000530.8(MPZ):c.317G>A (p.Arg106His)
|
rs145039212
|
0.00003
|
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760
|
0.00003
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001005373.4(LRSAM1):c.619+11G>A
|
rs370502826
|
0.00003
|
NM_001136472.2(LITAF):c.357C>T (p.Cys119=)
|
rs549492447
|
0.00003
|
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)
|
rs200614254
|
0.00003
|
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)
|
rs749610931
|
0.00003
|
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=)
|
rs201822384
|
0.00003
|
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=)
|
rs184264124
|
0.00003
|
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=)
|
rs143936619
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219
|
0.00003
|
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)
|
rs587781250
|
0.00003
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330
|
0.00003
|
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)
|
rs763378637
|
0.00003
|
NM_002047.4(GARS1):c.1700-13A>G
|
rs762966640
|
0.00003
|
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=)
|
rs779452908
|
0.00003
|
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
rs1225363387
|
0.00003
|
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852
|
0.00003
|
NM_002180.3(IGHMBP2):c.548-19G>A
|
rs1052895374
|
0.00003
|
NM_002180.3(IGHMBP2):c.87-19A>G
|
rs183650590
|
0.00003
|
NM_004990.4(MARS1):c.1369-14C>T
|
rs759180013
|
0.00003
|
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)
|
rs771808261
|
0.00003
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220
|
0.00003
|
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
|
rs560162089
|
0.00003
|
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=)
|
rs141150508
|
0.00003
|
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys)
|
rs544935330
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_014874.4(MFN2):c.1181G>A (p.Arg394His)
|
rs538243357
|
0.00003
|
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
|
rs771675874
|
0.00003
|
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu)
|
rs766735605
|
0.00003
|
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=)
|
rs139369561
|
0.00003
|
NM_016156.6(MTMR2):c.655-19T>C
|
rs756828009
|
0.00003
|
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=)
|
rs757493897
|
0.00003
|
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala)
|
rs760044422
|
0.00003
|
NM_021625.5(TRPV4):c.1981C>T (p.Arg661Cys)
|
rs772074281
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
|
rs185149793
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720
|
0.00003
|
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg)
|
rs746860317
|
0.00003
|
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala)
|
rs374114606
|
0.00003
|
NM_030962.4(SBF2):c.403-15T>G
|
rs887143579
|
0.00003
|
NM_030962.4(SBF2):c.93T>C (p.Phe31=)
|
rs200263159
|
0.00003
|
NM_030973.4(MED25):c.1764G>A (p.Pro588=)
|
rs758729127
|
0.00003
|
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
|
rs764017333
|
0.00003
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
NM_181882.3(PRX):c.1714G>A (p.Val572Met)
|
rs370979792
|
0.00003
|
NM_181882.3(PRX):c.1827C>T (p.Pro609=)
|
rs751816156
|
0.00003
|
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
|
rs377360814
|
0.00003
|
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
|
rs747871484
|
0.00003
|
NM_181882.3(PRX):c.2775C>T (p.Val925=)
|
rs201792838
|
0.00003
|
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
|
rs761769929
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_181882.3(PRX):c.3939G>A (p.Leu1313=)
|
rs140109585
|
0.00003
|
NM_181882.3(PRX):c.539C>T (p.Pro180Leu)
|
rs540526276
|
0.00003
|
NM_000304.4(PMP22):c.179-13C>G
|
rs756820859
|
0.00002
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs375449671
|
0.00002
|
NM_000304.4(PMP22):c.477C>T (p.Arg159=)
|
rs778132801
|
0.00002
|
NM_000399.5(EGR2):c.-1A>G
|
rs553201646
|
0.00002
|
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)
|
rs779811073
|
0.00002
|
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg)
|
rs753107323
|
0.00002
|
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
|
rs767714652
|
0.00002
|
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys)
|
rs1359751742
|
0.00002
|
NM_001005373.4(LRSAM1):c.904-4del
|
rs757987823
|
0.00002
|
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys)
|
rs748017885
|
0.00002
|
NM_001136472.2(LITAF):c.479G>A (p.Arg160His)
|
rs864622744
|
0.00002
|
NM_001365951.3(KIF1B):c.252C>T (p.His84=)
|
rs757683684
|
0.00002
|
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)
|
rs754332251
|
0.00002
|
NM_001365951.3(KIF1B):c.654C>T (p.His218=)
|
rs142209186
|
0.00002
|
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)
|
rs773609461
|
0.00002
|
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=)
|
rs772665813
|
0.00002
|
NM_001376.5(DYNC1H1):c.11595+20C>T
|
rs753442936
|
0.00002
|
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=)
|
rs772761222
|
0.00002
|
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)
|
rs755482182
|
0.00002
|
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)
|
rs780744467
|
0.00002
|
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=)
|
rs371538443
|
0.00002
|
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422
|
0.00002
|
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr)
|
rs551899273
|
0.00002
|
NM_002180.3(IGHMBP2):c.1061-19G>A
|
rs775305272
|
0.00002
|
NM_002180.3(IGHMBP2):c.1538-19G>A
|
rs199911239
|
0.00002
|
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806
|
0.00002
|
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
|
rs759271458
|
0.00002
|
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
|
rs772280279
|
0.00002
|
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
|
rs148605058
|
0.00002
|
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp)
|
rs373943338
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
|
rs754681347
|
0.00002
|
NM_004208.4(AIFM1):c.1574-20G>T
|
rs749868550
|
0.00002
|
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=)
|
rs148690239
|
0.00002
|
NM_004637.6(RAB7A):c.183A>C (p.Ile61=)
|
rs376642691
|
0.00002
|
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
|
rs780935468
|
0.00002
|
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)
|
rs916967743
|
0.00002
|
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
|
rs754546247
|
0.00002
|
NM_004990.4(MARS1):c.2163G>C (p.Val721=)
|
rs762587995
|
0.00002
|
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val)
|
rs559255944
|
0.00002
|
NM_004990.4(MARS1):c.2511C>G (p.Ala837=)
|
rs780483586
|
0.00002
|
NM_004990.4(MARS1):c.2557-14C>T
|
rs935467477
|
0.00002
|
NM_004990.4(MARS1):c.280-13C>T
|
rs375281035
|
0.00002
|
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
rs376785642
|
0.00002
|
NM_004990.4(MARS1):c.663+20C>T
|
rs780847522
|
0.00002
|
NM_006096.4(NDRG1):c.100-3C>T
|
rs775475505
|
0.00002
|
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
rs781381539
|
0.00002
|
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
|
rs138285479
|
0.00002
|
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
|
rs931069567
|
0.00002
|
NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys)
|
rs772268356
|
0.00002
|
NM_006096.4(NDRG1):c.861G>A (p.Ala287=)
|
rs150101908
|
0.00002
|
NM_006158.5(NEFL):c.*2C>A
|
rs754312148
|
0.00002
|
NM_006158.5(NEFL):c.1170-19C>T
|
rs762116919
|
0.00002
|
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu)
|
rs371203080
|
0.00002
|
NM_006736.6(DNAJB2):c.620-19G>A
|
rs1294521496
|
0.00002
|
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=)
|
rs775630178
|
0.00002
|
NM_014845.6(FIG4):c.1809G>A (p.Gly603=)
|
rs148280593
|
0.00002
|
NM_014845.6(FIG4):c.1949-15C>T
|
rs778444771
|
0.00002
|
NM_014845.6(FIG4):c.289+17C>T
|
rs368282150
|
0.00002
|
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
|
rs756851126
|
0.00002
|
NM_014874.4(MFN2):c.723C>T (p.Phe241=)
|
rs764912025
|
0.00002
|
NM_016156.6(MTMR2):c.1387-19T>G
|
rs760358740
|
0.00002
|
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
|
rs372095826
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_016156.6(MTMR2):c.297C>T (p.Gly99=)
|
rs772347980
|
0.00002
|
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
|
rs887196115
|
0.00002
|
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
|
rs762473236
|
0.00002
|
NM_021625.5(TRPV4):c.1824+5G>A
|
rs755945349
|
0.00002
|
NM_021625.5(TRPV4):c.183C>T (p.Gly61=)
|
rs773744592
|
0.00002
|
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
|
rs372583866
|
0.00002
|
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
|
rs548680957
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021625.5(TRPV4):c.834G>A (p.Glu278=)
|
rs529115496
|
0.00002
|
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs772832716
|
0.00002
|
NM_024577.4(SH3TC2):c.1136-12A>G
|
rs367677521
|
0.00002
|
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517
|
0.00002
|
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu)
|
rs759614174
|
0.00002
|
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr)
|
rs148831039
|
0.00002
|
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs758669363
|
0.00002
|
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)
|
rs371302639
|
0.00002
|
NM_030962.4(SBF2):c.1368G>A (p.Arg456=)
|
rs772525525
|
0.00002
|
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys)
|
rs770723203
|
0.00002
|
NM_030962.4(SBF2):c.5007G>A (p.Val1669=)
|
rs918725972
|
0.00002
|
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val)
|
rs755264093
|
0.00002
|
NM_030973.4(MED25):c.125C>T (p.Pro42Leu)
|
rs779085896
|
0.00002
|
NM_030973.4(MED25):c.2146+6G>A
|
rs756773643
|
0.00002
|
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
|
rs1376475717
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
NM_170707.4(LMNA):c.579T>C (p.Ala193=)
|
rs749728556
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_170707.4(LMNA):c.810+12C>T
|
rs746914371
|
0.00002
|
NM_181882.3(PRX):c.10A>G (p.Arg4Gly)
|
rs760534109
|
0.00002
|
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu)
|
rs767098112
|
0.00002
|
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
|
rs761824931
|
0.00002
|
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
|
rs369224308
|
0.00002
|
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val)
|
rs765924621
|
0.00002
|
NM_181882.3(PRX):c.336G>A (p.Val112=)
|
rs369268369
|
0.00002
|
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
|
rs370800046
|
0.00002
|
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
|
rs559968504
|
0.00002
|
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys)
|
rs771840476
|
0.00002
|
NM_181882.3(PRX):c.502C>T (p.Arg168Trp)
|
rs374193988
|
0.00002
|
NM_000166.6(GJB1):c.261A>G (p.Pro87=)
|
rs376994837
|
0.00001
|
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
|
rs879254098
|
0.00001
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_000166.6(GJB1):c.807C>T (p.Thr269=)
|
rs750620543
|
0.00001
|
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
|
rs768834663
|
0.00001
|
NM_000304.4(PMP22):c.354G>T (p.Thr118=)
|
rs776275784
|
0.00001
|
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
|
rs140763467
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.337-13T>C
|
rs762691667
|
0.00001
|
NM_000371.4(TTR):c.75C>T (p.Thr25=)
|
rs750051388
|
0.00001
|
NM_000399.5(EGR2):c.1242G>A (p.Lys414=)
|
rs554456422
|
0.00001
|
NM_000399.5(EGR2):c.774G>A (p.Val258=)
|
rs758709729
|
0.00001
|
NM_000399.5(EGR2):c.789T>C (p.Thr263=)
|
rs765678040
|
0.00001
|
NM_000530.8(MPZ):c.*1C>T
|
rs751066172
|
0.00001
|
NM_000530.8(MPZ):c.174C>T (p.Val58=)
|
rs753575261
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)
|
rs779159258
|
0.00001
|
NM_001005373.4(LRSAM1):c.1160-7C>T
|
rs377144291
|
0.00001
|
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp)
|
rs749575647
|
0.00001
|
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile)
|
rs1400819662
|
0.00001
|
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)
|
rs747130246
|
0.00001
|
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)
|
rs1315010600
|
0.00001
|
NM_001005373.4(LRSAM1):c.330C>T (p.Asn110=)
|
rs374848673
|
0.00001
|
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)
|
rs143910539
|
0.00001
|
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu)
|
rs746274685
|
0.00001
|
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=)
|
rs548270854
|
0.00001
|
NM_001136472.2(LITAF):c.269G>A (p.Arg90His)
|
rs200789696
|
0.00001
|
NM_001136472.2(LITAF):c.377+3G>A
|
rs202181952
|
0.00001
|
NM_001365951.3(KIF1B):c.1435-9C>T
|
rs200798756
|
0.00001
|
NM_001365951.3(KIF1B):c.2537+15A>G
|
rs757030966
|
0.00001
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs141942131
|
0.00001
|
NM_001365951.3(KIF1B):c.3140C>T (p.Ser1047Leu)
|
rs267597898
|
0.00001
|
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
|
rs567728453
|
0.00001
|
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
|
rs376471111
|
0.00001
|
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
|
rs758454220
|
0.00001
|
NM_001365951.3(KIF1B):c.5097-11G>T
|
rs765592840
|
0.00001
|
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)
|
rs866755197
|
0.00001
|
NM_001365951.3(KIF1B):c.5409-16C>T
|
rs781661292
|
0.00001
|
NM_001365951.3(KIF1B):c.609-10G>A
|
rs1648575016
|
0.00001
|
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)
|
rs762280202
|
0.00001
|
NM_001370298.3(FGD4):c.1102-5T>A
|
rs1459339879
|
0.00001
|
NM_001370298.3(FGD4):c.1248-13A>G
|
rs551481786
|
0.00001
|
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr)
|
rs755934741
|
0.00001
|
NM_001370298.3(FGD4):c.1602+7G>A
|
rs369751598
|
0.00001
|
NM_001370298.3(FGD4):c.2041G>A (p.Val681Ile)
|
rs753988910
|
0.00001
|
NM_001370298.3(FGD4):c.2631A>G (p.Thr877=)
|
rs142377910
|
0.00001
|
NM_001370298.3(FGD4):c.612C>T (p.Leu204=)
|
rs141920723
|
0.00001
|
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr)
|
rs201660852
|
0.00001
|
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
|
rs1595626695
|
0.00001
|
NM_001376.5(DYNC1H1):c.10754+10C>T
|
rs186169554
|
0.00001
|
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=)
|
rs572991122
|
0.00001
|
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
|
rs770188348
|
0.00001
|
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
|
rs992393537
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276-17T>C
|
rs758737122
|
0.00001
|
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=)
|
rs1260546515
|
0.00001
|
NM_001376.5(DYNC1H1):c.13372+14C>T
|
rs537023632
|
0.00001
|
NM_001376.5(DYNC1H1):c.4074+11A>T
|
rs368040742
|
0.00001
|
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)
|
rs760230019
|
0.00001
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200
|
0.00001
|
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=)
|
rs764884119
|
0.00001
|
NM_001376.5(DYNC1H1):c.6619-19G>A
|
rs747037096
|
0.00001
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405
|
0.00001
|
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)
|
rs758178917
|
0.00001
|
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)
|
rs1169712846
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
|
rs1803031652
|
0.00001
|
NM_001540.5(HSPB1):c.567C>T (p.Ala189=)
|
rs528301561
|
0.00001
|
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)
|
rs771457306
|
0.00001
|
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)
|
rs1597439359
|
0.00001
|
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885
|
0.00001
|
NM_001605.3(AARS1):c.72G>A (p.Thr24=)
|
rs780609058
|
0.00001
|
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu)
|
rs1374950172
|
0.00001
|
NM_002047.4(GARS1):c.-14A>G
|
rs1404831052
|
0.00001
|
NM_002047.4(GARS1):c.129G>T (p.Pro43=)
|
rs1326074084
|
0.00001
|
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
|
rs1287718221
|
0.00001
|
NM_002047.4(GARS1):c.1809+13G>A
|
rs1183436159
|
0.00001
|
NM_002047.4(GARS1):c.1809+16C>T
|
rs752229312
|
0.00001
|
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met)
|
rs770912338
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=)
|
rs370367228
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+9G>C
|
rs1859419581
|
0.00001
|
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
|
rs373017768
|
0.00001
|
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)
|
rs988590959
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
|
rs774522176
|
0.00001
|
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
|
rs766757770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=)
|
rs371840404
|
0.00001
|
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
|
rs768924538
|
0.00001
|
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg)
|
rs775782198
|
0.00001
|
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)
|
rs780802298
|
0.00001
|
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile)
|
rs761171176
|
0.00001
|
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu)
|
rs200079527
|
0.00001
|
NM_004637.6(RAB7A):c.21G>A (p.Val7=)
|
rs140857794
|
0.00001
|
NM_004637.6(RAB7A):c.321C>T (p.Leu107=)
|
rs749227632
|
0.00001
|
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
|
rs746654999
|
0.00001
|
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)
|
rs140467171
|
0.00001
|
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
|
rs1280661109
|
0.00001
|
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
|
rs778662742
|
0.00001
|
NM_004990.4(MARS1):c.1368+15C>T
|
rs371511467
|
0.00001
|
NM_004990.4(MARS1):c.1368+3A>T
|
rs1205318968
|
0.00001
|
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
|
rs778085997
|
0.00001
|
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)
|
rs773313017
|
0.00001
|
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718
|
0.00001
|
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val)
|
rs969642249
|
0.00001
|
NM_004990.4(MARS1):c.414+8G>A
|
rs371003913
|
0.00001
|
NM_005391.5(PDK3):c.249-14T>G
|
rs766469321
|
0.00001
|
NM_006096.4(NDRG1):c.389+13G>C
|
rs537705365
|
0.00001
|
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
|
rs748782766
|
0.00001
|
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
|
rs1213776109
|
0.00001
|
NM_006096.4(NDRG1):c.699-16C>G
|
rs567104964
|
0.00001
|
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
|
rs1337832950
|
0.00001
|
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
|
rs898573925
|
0.00001
|
NM_006158.5(NEFL):c.1006C>G (p.Leu336Val)
|
rs551896980
|
0.00001
|
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
|
rs765260132
|
0.00001
|
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
|
rs370031604
|
0.00001
|
NM_006158.5(NEFL):c.637A>G (p.Ile213Val)
|
rs538481538
|
0.00001
|
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)
|
rs764562926
|
0.00001
|
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val)
|
rs776063730
|
0.00001
|
NM_006415.4(SPTLC1):c.1254+8del
|
rs771209816
|
0.00001
|
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr)
|
rs376427329
|
0.00001
|
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr)
|
rs150792865
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006415.4(SPTLC1):c.58-19G>C
|
rs376799813
|
0.00001
|
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln)
|
rs771021842
|
0.00001
|
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter)
|
rs1215612827
|
0.00001
|
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=)
|
rs576058376
|
0.00001
|
NM_006736.6(DNAJB2):c.446-17C>G
|
rs760786001
|
0.00001
|
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met)
|
rs1376239309
|
0.00001
|
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
|
rs1255518113
|
0.00001
|
NM_014845.6(FIG4):c.1750+11A>C
|
rs766372971
|
0.00001
|
NM_014845.6(FIG4):c.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
rs745860370
|
0.00001
|
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
|
rs745397940
|
0.00001
|
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
|
rs532895784
|
0.00001
|
NM_014845.6(FIG4):c.300G>A (p.Arg100=)
|
rs368831195
|
0.00001
|
NM_014845.6(FIG4):c.66+18G>A
|
rs1381893795
|
0.00001
|
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln)
|
rs142042485
|
0.00001
|
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)
|
rs746806455
|
0.00001
|
NM_014874.4(MFN2):c.1717-12T>G
|
rs757942090
|
0.00001
|
NM_014874.4(MFN2):c.1717-15T>C
|
rs752294693
|
0.00001
|
NM_014874.4(MFN2):c.1806C>T (p.Ser602=)
|
rs201258935
|
0.00001
|
NM_014874.4(MFN2):c.1815C>T (p.Thr605=)
|
rs751029047
|
0.00001
|
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
|
rs1424551887
|
0.00001
|
NM_016156.6(MTMR2):c.1770+3A>G
|
rs756909627
|
0.00001
|
NM_016156.6(MTMR2):c.240A>C (p.Pro80=)
|
rs201920176
|
0.00001
|
NM_016156.6(MTMR2):c.654+5G>A
|
rs1398525959
|
0.00001
|
NM_018972.4(GDAP1):c.123C>T (p.Arg41=)
|
rs1395874165
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_021625.5(TRPV4):c.-16C>T
|
rs762801533
|
0.00001
|
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)
|
rs759501013
|
0.00001
|
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr)
|
rs546287338
|
0.00001
|
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)
|
rs763889344
|
0.00001
|
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter)
|
rs515726156
|
0.00001
|
NM_021625.5(TRPV4):c.1824+14G>A
|
rs1019790413
|
0.00001
|
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
|
rs1889847260
|
0.00001
|
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
|
rs766420746
|
0.00001
|
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=)
|
rs774321681
|
0.00001
|
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
|
rs1213728059
|
0.00001
|
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
|
rs150719390
|
0.00001
|
NM_021625.5(TRPV4):c.2336+1G>A
|
rs771778984
|
0.00001
|
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His)
|
rs1431224527
|
0.00001
|
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
|
rs768620169
|
0.00001
|
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)
|
rs1235218303
|
0.00001
|
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu)
|
rs779371027
|
0.00001
|
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
|
rs1193945019
|
0.00001
|
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly)
|
rs989621170
|
0.00001
|
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
|
rs377729962
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-5T>A
|
rs769711653
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-8C>T
|
rs748766254
|
0.00001
|
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro)
|
rs1172985848
|
0.00001
|
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs757167683
|
0.00001
|
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720
|
0.00001
|
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
|
rs1303051798
|
0.00001
|
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
|
rs779075488
|
0.00001
|
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs1416387782
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
|
rs1406112399
|
0.00001
|
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp)
|
rs147490172
|
0.00001
|
NM_024577.4(SH3TC2):c.279+4A>G
|
rs371909418
|
0.00001
|
NM_024577.4(SH3TC2):c.280-4G>A
|
rs747321591
|
0.00001
|
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile)
|
rs1380115510
|
0.00001
|
NM_024577.4(SH3TC2):c.2873-16C>T
|
rs1387099711
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
|
rs748413646
|
0.00001
|
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
|
rs762263591
|
0.00001
|
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
|
rs747405272
|
0.00001
|
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=)
|
rs777895612
|
0.00001
|
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs781625125
|
0.00001
|
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768
|
0.00001
|
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875
|
0.00001
|
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
|
rs144520038
|
0.00001
|
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg)
|
rs770153492
|
0.00001
|
NM_030962.4(SBF2):c.1244G>T (p.Gly415Val)
|
rs996602317
|
0.00001
|
NM_030962.4(SBF2):c.1297-13T>C
|
rs777737213
|
0.00001
|
NM_030962.4(SBF2):c.1563A>G (p.Ile521Met)
|
rs770392081
|
0.00001
|
NM_030962.4(SBF2):c.1854T>G (p.Thr618=)
|
rs1224103000
|
0.00001
|
NM_030962.4(SBF2):c.2619T>C (p.Ile873=)
|
rs1168090388
|
0.00001
|
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val)
|
rs753427715
|
0.00001
|
NM_030962.4(SBF2):c.3386G>C (p.Ser1129Thr)
|
rs187674701
|
0.00001
|
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His)
|
rs757577170
|
0.00001
|
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser)
|
rs760210827
|
0.00001
|
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)
|
rs767811228
|
0.00001
|
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)
|
rs1590103742
|
0.00001
|
NM_030962.4(SBF2):c.4758G>A (p.Glu1586=)
|
rs770533275
|
0.00001
|
NM_030962.4(SBF2):c.4981C>G (p.Gln1661Glu)
|
rs1337750415
|
0.00001
|
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr)
|
rs146064484
|
0.00001
|
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly)
|
rs1441387053
|
0.00001
|
NM_030962.4(SBF2):c.78A>G (p.Lys26=)
|
rs781552767
|
0.00001
|
NM_030962.4(SBF2):c.808A>G (p.Thr270Ala)
|
rs1194829190
|
0.00001
|
NM_030962.4(SBF2):c.87G>C (p.Gln29His)
|
rs751336040
|
0.00001
|
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg)
|
rs758820956
|
0.00001
|
NM_030973.4(MED25):c.1044C>T (p.Ser348=)
|
rs1292829714
|
0.00001
|
NM_030973.4(MED25):c.134+19A>G
|
rs764885639
|
0.00001
|
NM_030973.4(MED25):c.1675-18C>T
|
rs2074089100
|
0.00001
|
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
|
rs765135124
|
0.00001
|
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
|
rs200785685
|
0.00001
|
NM_030973.4(MED25):c.556C>T (p.Arg186Trp)
|
rs776291104
|
0.00001
|
NM_030973.4(MED25):c.751G>A (p.Ala251Thr)
|
rs775622130
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
|
rs776589077
|
0.00001
|
NM_170707.4(LMNA):c.1157+15C>T
|
rs761166147
|
0.00001
|
NM_170707.4(LMNA):c.1157+19G>A
|
rs757715731
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
|
rs768986279
|
0.00001
|
NM_170707.4(LMNA):c.1969-4T>C
|
rs751715969
|
0.00001
|
NM_170707.4(LMNA):c.571G>A (p.Val191Met)
|
rs879253896
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_181882.3(PRX):c.1113A>G (p.Glu371=)
|
rs137930942
|
0.00001
|
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr)
|
rs752783967
|
0.00001
|
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp)
|
rs746394555
|
0.00001
|
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala)
|
rs201044009
|
0.00001
|
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
|
rs760423138
|
0.00001
|
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
|
rs1167411868
|
0.00001
|
NM_181882.3(PRX):c.1684G>A (p.Val562Met)
|
rs1234205162
|
0.00001
|
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
|
rs757931043
|
0.00001
|
NM_181882.3(PRX):c.182A>G (p.Glu61Gly)
|
rs779928693
|
0.00001
|
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
|
rs2079438994
|
0.00001
|
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
|
rs1387072587
|
0.00001
|
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
|
rs755014286
|
0.00001
|
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
|
rs570569581
|
0.00001
|
NM_181882.3(PRX):c.2307G>A (p.Pro769=)
|
rs148655811
|
0.00001
|
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
|
rs1352237419
|
0.00001
|
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser)
|
rs761267361
|
0.00001
|
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr)
|
rs773246710
|
0.00001
|
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
|
rs749251511
|
0.00001
|
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
|
rs751126995
|
0.00001
|
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
|
rs1486029743
|
0.00001
|
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
|
rs778270475
|
0.00001
|
NM_181882.3(PRX):c.556C>T (p.Arg186Trp)
|
rs539484549
|
0.00001
|
NM_181882.3(PRX):c.617G>A (p.Arg206Gln)
|
rs765911262
|
0.00001
|
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
|
rs577197549
|
0.00001
|
NM_000166.6(GJB1):c.*18C>G
|
rs2092547149
|
|
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
|
rs1602349264
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
|
rs766201464
|
|
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
|
rs776040132
|
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
|
rs1602348658
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)
|
rs1555936989
|
|
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
|
rs1909079392
|
|
NM_000304.4(PMP22):c.179-2A>G
|
rs1597608225
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1])
|
rs1907117054
|
|
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
|
rs755701957
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys)
|
rs1555565234
|
|
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
|
rs1597607638
|
|
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
|
rs863225028
|
|
NM_000304.4(PMP22):c.366G>A (p.Pro122=)
|
rs372723732
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)
|
rs1597597527
|
|
NM_000304.4(PMP22):c.433del (p.Leu145fs)
|
rs1567698872
|
|
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
|
rs1906257962
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322
|
|
NM_000371.4(TTR):c.148G>C (p.Val50Leu)
|
rs28933979
|
|
NM_000371.4(TTR):c.201-3T>C
|
rs2073510064
|
|
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
|
rs2073510805
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.70-19G>A
|
rs548935944
|
|
NM_000371.4(TTR):c.70-7C>T
|
rs587780990
|
|
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)
|
rs1842165681
|
|
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp)
|
rs138967272
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
NM_000399.5(EGR2):c.210G>A (p.Ser70=)
|
rs776156156
|
|
NM_000399.5(EGR2):c.222A>C (p.Pro74=)
|
rs201068734
|
|
NM_000399.5(EGR2):c.645G>A (p.Thr215=)
|
rs781408172
|
|
NM_000399.5(EGR2):c.816C>A (p.Thr272=)
|
rs863224359
|
|
NM_000399.5(EGR2):c.843C>T (p.Thr281=)
|
rs375890313
|
|
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup)
|
rs746688326
|
|
NM_000399.5(EGR2):c.938A>G (p.His313Arg)
|
rs772972643
|
|
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
|
rs121913596
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
|
rs876661287
|
|
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)
|
rs121913585
|
|
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)
|
rs1670284480
|
|
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
|
rs1571819890
|
|
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
|
rs1170786711
|
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601
|
|
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707
|
|
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492
|
|
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
|
rs1571819182
|
|
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149
|
|
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)
|
rs786204215
|
|
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
|
rs920464920
|
|
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
|
rs1553259663
|
|
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
|
rs267607242
|
|
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
|
rs1670359930
|
|
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
|
rs121913603
|
|
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
rs1571818632
|
|
NM_000530.8(MPZ):c.448+2T>G
|
rs1670257221
|
|
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
|
rs1670244293
|
|
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
|
rs1670242746
|
|
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)
|
rs770994564
|
|
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
|
rs1670234637
|
|
NM_000530.8(MPZ):c.645+10A>G
|
rs1670232533
|
|
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
|
rs767339597
|
|
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
|
rs1670224859
|
|
NM_001005373.4(LRSAM1):c.1016dup (p.Gln340fs)
|
rs1835476174
|
|
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=)
|
rs1554757292
|
|
NM_001005373.4(LRSAM1):c.1044-20T>C
|
rs1835521444
|
|
NM_001005373.4(LRSAM1):c.1083T>C (p.Asn361=)
|
rs1835524969
|
|
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val)
|
rs1835780785
|
|
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)
|
rs202166023
|
|
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg)
|
rs1345645228
|
|
NM_001005373.4(LRSAM1):c.1422+42_1422+43del
|
rs3053015
|
|
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=)
|
rs756804646
|
|
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=)
|
rs199703262
|
|
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=)
|
rs1442123730
|
|
NM_001005373.4(LRSAM1):c.1581A>G (p.Glu527=)
|
rs1835985595
|
|
NM_001005373.4(LRSAM1):c.175-18G>T
|
rs752028583
|
|
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp)
|
rs1183629673
|
|
NM_001005373.4(LRSAM1):c.1936G>T (p.Val646Phe)
|
rs748358043
|
|
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs)
|
rs1836372698
|
|
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=)
|
rs566890772
|
|
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr)
|
rs1588144651
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001005373.4(LRSAM1):c.253-9C>A
|
rs199925705
|
|
NM_001005373.4(LRSAM1):c.51C>T (p.Arg17=)
|
rs1834446417
|
|
NM_001005373.4(LRSAM1):c.528+15G>C
|
rs758039190
|
|
NM_001005373.4(LRSAM1):c.750+2T>G
|
rs76153575
|
|
NM_001005373.4(LRSAM1):c.904-2A>G
|
rs1171946884
|
|
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser)
|
rs2064271547
|
|
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.412G>A (p.Val138Met)
|
rs780788687
|
|
NM_001136472.2(LITAF):c.430G>A (p.Val144Met)
|
rs121908615
|
|
NM_001365951.3(KIF1B):c.107-11T>G
|
rs1647773753
|
|
NM_001365951.3(KIF1B):c.107-13T>C
|
rs936173191
|
|
NM_001365951.3(KIF1B):c.1180+13A>G
|
rs150049547
|
|
NM_001365951.3(KIF1B):c.1222+16_1222+17del
|
rs35347635
|
|
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)
|
rs896518063
|
|
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
|
rs1650197606
|
|
NM_001365951.3(KIF1B):c.1671-4T>C
|
rs1650224129
|
|
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
|
rs756935623
|
|
NM_001365951.3(KIF1B):c.184-6_184-5del
|
rs138324955
|
|
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
|
rs766127664
|
|
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
|
rs1650299804
|
|
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)
|
rs1332046524
|
|
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu)
|
rs1650300630
|
|
NM_001365951.3(KIF1B):c.2043-10_2043-9del
|
rs58344165
|
|
NM_001365951.3(KIF1B):c.2043-4C>T
|
rs771419523
|
|
NM_001365951.3(KIF1B):c.2043-9del
|
rs58344165
|
|
NM_001365951.3(KIF1B):c.2358+9C>T
|
rs1651536955
|
|
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)
|
rs1652211900
|
|
NM_001365951.3(KIF1B):c.3422+18T>C
|
rs1652225664
|
|
NM_001365951.3(KIF1B):c.3688+7_3688+8dup
|
rs1652467199
|
|
NM_001365951.3(KIF1B):c.3798-15G>A
|
rs766283700
|
|
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val)
|
rs529804940
|
|
NM_001365951.3(KIF1B):c.4305-17T>A
|
rs1323362062
|
|
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
|
rs868357926
|
|
NM_001365951.3(KIF1B):c.4947-13C>G
|
rs1638826414
|
|
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
|
rs757828399
|
|
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)
|
rs766873320
|
|
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
|
rs775958513
|
|
NM_001365951.3(KIF1B):c.959-16T>A
|
rs1206994711
|
|
NM_001370298.3(FGD4):c.1248-16dup
|
rs368420700
|
|
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=)
|
rs750265200
|
|
NM_001370298.3(FGD4):c.1824T>G (p.Val608=)
|
rs1949688594
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)
|
rs904582
|
|
NM_001370298.3(FGD4):c.846C>T (p.Asp282=)
|
rs904582
|
|
NM_001376.5(DYNC1H1):c.10626+12G>A
|
rs751897147
|
|
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=)
|
rs2048607317
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=)
|
rs530450786
|
|
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
|
rs2048684224
|
|
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=)
|
rs1566997875
|
|
NM_001376.5(DYNC1H1):c.13218+18G>A
|
rs745843852
|
|
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)
|
rs17541692
|
|
NM_001376.5(DYNC1H1):c.13516-18G>C
|
rs2048778047
|
|
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
|
rs2048779548
|
|
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=)
|
rs2048794268
|
|
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=)
|
rs2048795231
|
|
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
|
rs1595601645
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3015+18C>T
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=)
|
rs2048042753
|
|
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
|
rs1567005557
|
|
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln)
|
rs773425996
|
|
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln)
|
rs2048175428
|
|
NM_001376.5(DYNC1H1):c.519-3dup
|
rs2047841392
|
|
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His)
|
rs1399321780
|
|
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=)
|
rs2048193766
|
|
NM_001376.5(DYNC1H1):c.6222-20C>A
|
rs200368499
|
|
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=)
|
rs2048243538
|
|
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
|
rs769311346
|
|
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=)
|
rs2048305907
|
|
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=)
|
rs759580840
|
|
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=)
|
rs2048315206
|
|
NM_001376.5(DYNC1H1):c.7848+13G>A
|
rs1451487950
|
|
NM_001376.5(DYNC1H1):c.8178-19C>T
|
rs755564157
|
|
NM_001376.5(DYNC1H1):c.8343+9_8343+10del
|
rs769162724
|
|
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=)
|
rs2047850441
|
|
NM_001376.5(DYNC1H1):c.8638-7dup
|
rs2048453799
|
|
NM_001376.5(DYNC1H1):c.8772-13C>T
|
rs2048460576
|
|
NM_001376.5(DYNC1H1):c.9048+16G>A
|
rs1287980587
|
|
NM_001376.5(DYNC1H1):c.9468+9A>G
|
rs750452823
|
|
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)
|
rs151255069
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=)
|
rs2295445
|
|
NM_001540.5(HSPB1):c.*20A>C
|
rs775953415
|
|
NM_001540.5(HSPB1):c.-5C>T
|
rs948469224
|
|
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)
|
rs372197630
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
|
rs769118115
|
|
NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)
|
rs556995718
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001540.5(HSPB1):c.364+9_364+20del
|
rs1803032779
|
|
NM_001540.5(HSPB1):c.365-5dup
|
rs759570569
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
|
rs1455898327
|
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
|
rs28937568
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg)
|
rs369135192
|
|
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn)
|
rs1567605658
|
|
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)
|
rs1228135551
|
|
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621
|
|
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
|
rs1783005436
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
|
rs1783125064
|
|
NM_002047.4(GARS1):c.1809+8G>C
|
rs766137918
|
|
NM_002047.4(GARS1):c.1904-19C>T
|
rs1204535363
|
|
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
|
rs1785775131
|
|
NM_002047.4(GARS1):c.881+17G>A
|
rs1791560409
|
|
NM_002180.3(IGHMBP2):c.1061-1G>C
|
rs1859177429
|
|
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val)
|
rs1859413172
|
|
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
|
rs1566444289
|
|
NM_002180.3(IGHMBP2):c.1538-20C>T
|
rs147148090
|
|
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)
|
rs1465803265
|
|
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro)
|
rs1858185704
|
|
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
|
rs1413846126
|
|
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)
|
rs1859536554
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
|
rs1859566434
|
|
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=)
|
rs746248057
|
|
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
|
rs763406969
|
|
NM_002180.3(IGHMBP2):c.2612-3C>T
|
rs1859624455
|
|
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile)
|
rs1594458412
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
|
rs147001168
|
|
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn)
|
rs1858067155
|
|
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)
|
rs1858284168
|
|
NM_002180.3(IGHMBP2):c.450-13T>C
|
rs1015873972
|
|
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
|
rs1858294034
|
|
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)
|
rs778232785
|
|
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
|
rs1858584931
|
|
NM_002180.3(IGHMBP2):c.86+7G>C
|
rs527948004
|
|
NM_004208.4(AIFM1):c.*20C>A
|
rs753119555
|
|
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
|
|
|
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)
|
rs2030801103
|
|
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys)
|
rs886703882
|
|
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)
|
rs1933806198
|
|
NM_004637.6(RAB7A):c.400-17C>G
|
rs762146227
|
|
NM_004637.6(RAB7A):c.529-11T>G
|
rs1363669325
|
|
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)
|
rs1594821331
|
|
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
|
rs1876868867
|
|
NM_004990.4(MARS1):c.1294-5C>T
|
rs149946100
|
|
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
|
rs752787612
|
|
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
|
rs530730589
|
|
NM_004990.4(MARS1):c.2392-8T>A
|
rs754886014
|
|
NM_004990.4(MARS1):c.2557-12C>G
|
rs189933911
|
|
NM_004990.4(MARS1):c.2557-13C>A
|
rs781643044
|
|
NM_004990.4(MARS1):c.2557-13C>G
|
rs781643044
|
|
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
|
rs1877841043
|
|
NM_004990.4(MARS1):c.873C>T (p.Ala291=)
|
rs79531790
|
|
NM_004990.4(MARS1):c.887+17G>A
|
rs201259473
|
|
NM_004990.4(MARS1):c.887+17G>C
|
rs201259473
|
|
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
|
rs145260922
|
|
NM_005391.5(PDK3):c.1077+4C>T
|
rs1922654884
|
|
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter)
|
rs1922715641
|
|
NM_005391.5(PDK3):c.249-9del
|
rs374771377
|
|
NM_005391.5(PDK3):c.249-9dup
|
rs374771377
|
|
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile)
|
rs1602114620
|
|
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])
|
rs751274009
|
|
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly)
|
rs779065972
|
|
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly)
|
rs367925853
|
|
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val)
|
rs367925853
|
|
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
|
rs1286565668
|
|
NM_006096.4(NDRG1):c.206-17T>G
|
rs1856694633
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.681dup (p.Ile228fs)
|
rs879254290
|
|
NM_006096.4(NDRG1):c.756-13T>C
|
rs1855783791
|
|
NM_006096.4(NDRG1):c.756-5_756-4delinsTG
|
rs1855782584
|
|
NM_006096.4(NDRG1):c.856-9C>T
|
rs772996128
|
|
NM_006096.4(NDRG1):c.892-11G>A
|
rs1855418193
|
|
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr)
|
rs1855416179
|
|
NM_006096.4(NDRG1):c.973C>A (p.Arg325=)
|
rs141078746
|
|
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro)
|
rs587777881
|
|
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del)
|
rs1803033503
|
|
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)
|
rs1803032912
|
|
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
|
rs1013536878
|
|
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe)
|
rs1803010527
|
|
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503
|
|
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn)
|
rs1586126731
|
|
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
|
rs372997416
|
|
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg)
|
rs1803003337
|
|
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286
|
|
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
|
rs1802987929
|
|
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)
|
rs61491953
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
|
rs1323026981
|
|
NM_006158.5(NEFL):c.321C>G (p.Arg107=)
|
rs1198042093
|
|
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641
|
|
NM_006158.5(NEFL):c.420G>A (p.Glu140=)
|
rs1586128713
|
|
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
|
rs776351925
|
|
NM_006158.5(NEFL):c.507G>A (p.Glu169=)
|
rs750417735
|
|
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser)
|
rs541360328
|
|
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
|
rs774653437
|
|
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp)
|
rs532240912
|
|
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
|
rs1803043048
|
|
NM_006158.5(NEFL):c.678G>T (p.Val226=)
|
rs1803042195
|
|
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
|
rs372748927
|
|
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
|
rs1803034177
|
|
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)
|
rs1803033886
|
|
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly)
|
rs199606270
|
|
NM_006415.4(SPTLC1):c.1137-23GT[6]
|
rs147137401
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del)
|
rs777170186
|
|
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)
|
rs119482082
|
|
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)
|
rs376342795
|
|
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu)
|
rs45461899
|
|
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=)
|
rs1834354782
|
|
NM_006415.4(SPTLC1):c.560+16G>A
|
rs73512337
|
|
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu)
|
rs781435924
|
|
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=)
|
rs1951908977
|
|
NM_006736.6(DNAJB2):c.353-9T>G
|
rs1951917611
|
|
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu)
|
rs773564082
|
|
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
|
rs1951895452
|
|
NM_006736.6(DNAJB2):c.966C>G (p.Leu322=)
|
rs375689394
|
|
NM_014845.6(FIG4):c.105A>G (p.Lys35=)
|
rs1775388283
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-10C>T
|
rs201293291
|
|
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)
|
rs1777130180
|
|
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
|
rs1777242124
|
|
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg)
|
rs1562677647
|
|
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu)
|
rs1777638116
|
|
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
|
rs1777638564
|
|
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile)
|
rs780595685
|
|
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2097-10C>T
|
rs142482745
|
|
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe)
|
rs754830354
|
|
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
|
rs767193357
|
|
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
rs760215765
|
|
NM_014845.6(FIG4):c.2377-20_2377-19insCT
|
rs557926044
|
|
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
|
rs1778168177
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767
|
|
NM_014845.6(FIG4):c.446+32dup
|
rs11459279
|
|
NM_014845.6(FIG4):c.447-16delinsTT
|
rs1776038653
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-4_447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
|
rs76125290
|
|
NM_014845.6(FIG4):c.799G>C (p.Val267Leu)
|
rs1776321116
|
|
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg)
|
rs387906991
|
|
NM_014874.4(MFN2):c.1393-8G>A
|
rs1639330742
|
|
NM_014874.4(MFN2):c.1476C>T (p.Thr492=)
|
rs143428548
|
|
NM_014874.4(MFN2):c.1495+10del
|
rs754692803
|
|
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)
|
rs61733200
|
|
NM_014874.4(MFN2):c.176-3C>T
|
rs975369655
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.2028C>T (p.Val676=)
|
rs780836559
|
|
NM_014874.4(MFN2):c.2069+18A>G
|
rs551549595
|
|
NM_014874.4(MFN2):c.2070-11C>T
|
rs759614417
|
|
NM_014874.4(MFN2):c.2070-8C>T
|
rs1321940926
|
|
NM_014874.4(MFN2):c.2093A>G (p.His698Arg)
|
rs1060501916
|
|
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)
|
rs1639600409
|
|
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)
|
rs1557537346
|
|
NM_014874.4(MFN2):c.262A>G (p.Ile88Val)
|
rs1569816194
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)
|
rs1553141706
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.318C>T (p.Ser106=)
|
rs778937659
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
NM_014874.4(MFN2):c.564C>T (p.Cys188=)
|
rs536007087
|
|
NM_014874.4(MFN2):c.628G>C (p.Asp210His)
|
rs1064794315
|
|
NM_014874.4(MFN2):c.661G>C (p.Asp221His)
|
rs1569842525
|
|
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
|
rs1569842714
|
|
NM_014874.4(MFN2):c.708+10C>T
|
rs1639049020
|
|
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295
|
|
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)
|
rs1639057845
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
|
rs1569844113
|
|
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln)
|
rs1569844113
|
|
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
|
rs1453267972
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala)
|
rs1639171448
|
|
NM_016156.6(MTMR2):c.*17G>A
|
rs1590967661
|
|
NM_016156.6(MTMR2):c.-15T>C
|
rs1867041432
|
|
NM_016156.6(MTMR2):c.-16C>T
|
rs1312979957
|
|
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC
|
rs1555056865
|
|
NM_016156.6(MTMR2):c.186+19A>T
|
rs12385798
|
|
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe)
|
rs1356220463
|
|
NM_016156.6(MTMR2):c.358-39_358-16del
|
rs1864444648
|
|
NM_016156.6(MTMR2):c.358-42_358-18del
|
rs1864444752
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_016156.6(MTMR2):c.684A>G (p.Thr228=)
|
rs116484470
|
|
NM_018972.4(GDAP1):c.-19C>T
|
rs371103821
|
|
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
|
rs761035569
|
|
NM_018972.4(GDAP1):c.118-16G>A
|
rs757760120
|
|
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
|
rs770714080
|
|
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
|
rs1808869772
|
|
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)
|
rs1808794425
|
|
NM_018972.4(GDAP1):c.311-7A>G
|
rs1809284445
|
|
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)
|
rs1809382139
|
|
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)
|
rs1808792150
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.609G>A (p.Lys203=)
|
rs758365842
|
|
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys)
|
rs1586806242
|
|
NM_018972.4(GDAP1):c.75G>A (p.Lys25=)
|
rs761730309
|
|
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
|
rs1006063188
|
|
NM_021625.5(TRPV4):c.1152+12G>T
|
rs776419711
|
|
NM_021625.5(TRPV4):c.1152+15dup
|
rs746148872
|
|
NM_021625.5(TRPV4):c.1333-16A>C
|
rs199994834
|
|
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His)
|
rs143502097
|
|
NM_021625.5(TRPV4):c.1584+18G>C
|
rs10850750
|
|
NM_021625.5(TRPV4):c.1585-15C>A
|
rs1890178822
|
|
NM_021625.5(TRPV4):c.167G>A (p.Arg56His)
|
rs767169716
|
|
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
|
rs1252509184
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633
|
|
NM_021625.5(TRPV4):c.2336+10G>C
|
rs746178717
|
|
NM_021625.5(TRPV4):c.2349G>C (p.Val783=)
|
rs778478432
|
|
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)
|
rs1255642563
|
|
NM_021625.5(TRPV4):c.396G>A (p.Pro132=)
|
rs114101785
|
|
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
|
rs114101785
|
|
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)
|
rs754155333
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.712+1G>T
|
rs1449705702
|
|
NM_021625.5(TRPV4):c.760G>A (p.Val254Met)
|
rs143548402
|
|
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu)
|
rs143548402
|
|
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)
|
rs752366465
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.903C>G (p.Val301=)
|
rs748103823
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.1177+18T>A
|
rs1454045139
|
|
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs1754119445
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser)
|
rs1370966250
|
|
NM_024577.4(SH3TC2):c.151+15_151+16del
|
rs569906096
|
|
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
|
rs537134516
|
|
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)
|
rs762967613
|
|
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr)
|
rs757781673
|
|
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser)
|
rs571440448
|
|
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg)
|
rs1754096264
|
|
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)
|
rs1754094644
|
|
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)
|
rs1754092804
|
|
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala)
|
rs1332446150
|
|
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs1754090424
|
|
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs746538256
|
|
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met)
|
rs1754081317
|
|
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
|
rs148073022
|
|
NM_024577.4(SH3TC2):c.2873-17C>T
|
rs1754070873
|
|
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs1205847384
|
|
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met)
|
rs763964456
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3204+5G>A
|
rs1753801589
|
|
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly)
|
rs1753657973
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006
|
|
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val)
|
rs1261276778
|
|
NM_024577.4(SH3TC2):c.52+4A>G
|
rs1170747720
|
|
NM_024577.4(SH3TC2):c.53-17del
|
rs1754572524
|
|
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391
|
|
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs532463685
|
|
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
|
rs1025939209
|
|
NM_024577.4(SH3TC2):c.731+17C>A
|
rs1188522082
|
|
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu)
|
rs746685729
|
|
NM_030962.4(SBF2):c.1395+1G>A
|
rs1947335024
|
|
NM_030962.4(SBF2):c.142-14dup
|
rs530695547
|
|
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu)
|
rs777289065
|
|
NM_030962.4(SBF2):c.1711-9T>C
|
rs1866612014
|
|
NM_030962.4(SBF2):c.2109T>C (p.Leu703=)
|
rs1857341131
|
|
NM_030962.4(SBF2):c.2536+16A>T
|
rs200967111
|
|
NM_030962.4(SBF2):c.2611-35AATC[4]
|
rs202029370
|
|
NM_030962.4(SBF2):c.2611-35AATC[6]
|
rs202029370
|
|
NM_030962.4(SBF2):c.266A>C (p.Glu89Ala)
|
rs1949706329
|
|
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3383G>A (p.Gly1128Asp)
|
rs1855965122
|
|
NM_030962.4(SBF2):c.3450C>T (p.Cys1150=)
|
rs377608130
|
|
NM_030962.4(SBF2):c.3456-22_3456-18del
|
rs751512324
|
|
NM_030962.4(SBF2):c.4290C>T (p.Pro1430=)
|
rs1853958405
|
|
NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn)
|
rs1853955123
|
|
NM_030962.4(SBF2):c.4355A>G (p.Lys1452Arg)
|
rs1853954509
|
|
NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr)
|
rs1853953374
|
|
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=)
|
rs756073763
|
|
NM_030962.4(SBF2):c.4635T>A (p.Ile1545=)
|
rs1852679218
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_030962.4(SBF2):c.5038-9C>G
|
rs1453213030
|
|
NM_030962.4(SBF2):c.5043A>G (p.Gln1681=)
|
rs779654145
|
|
NM_030962.4(SBF2):c.5277T>G (p.Gly1759=)
|
rs774505575
|
|
NM_030962.4(SBF2):c.5451+8G>C
|
rs948210964
|
|
NM_030962.4(SBF2):c.5452-3T>C
|
rs770176461
|
|
NM_030962.4(SBF2):c.753-16T>C
|
rs7128234
|
|
NM_030962.4(SBF2):c.861+5G>C
|
rs879253963
|
|
NM_030962.4(SBF2):c.861+9T>A
|
rs1947927028
|
|
NM_030962.4(SBF2):c.948A>C (p.Leu316=)
|
rs772340409
|
|
NM_030973.4(MED25):c.107G>A (p.Arg36His)
|
rs1555800954
|
|
NM_030973.4(MED25):c.1101+24_1101+42dup
|
rs564179307
|
|
NM_030973.4(MED25):c.1102-11C>G
|
rs1166792631
|
|
NM_030973.4(MED25):c.1317-16del
|
rs748829394
|
|
NM_030973.4(MED25):c.135-1G>A
|
rs2073955922
|
|
NM_030973.4(MED25):c.1369C>T (p.Leu457=)
|
rs566536708
|
|
NM_030973.4(MED25):c.1482+17G>A
|
rs2074065045
|
|
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
|
rs964471885
|
|
NM_030973.4(MED25):c.1674+19C>T
|
rs752522
|
|
NM_030973.4(MED25):c.168C>T (p.Asp56=)
|
rs1469914664
|
|
NM_030973.4(MED25):c.186G>A (p.Gly62=)
|
rs2073963607
|
|
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu)
|
rs775342932
|
|
NM_030973.4(MED25):c.1966-5C>T
|
rs757221753
|
|
NM_030973.4(MED25):c.2037G>A (p.Leu679=)
|
rs2074097615
|
|
NM_030973.4(MED25):c.2146+19G>T
|
rs568964675
|
|
NM_030973.4(MED25):c.228C>T (p.Cys76=)
|
rs770196362
|
|
NM_030973.4(MED25):c.234C>G (p.Pro78=)
|
rs74863643
|
|
NM_030973.4(MED25):c.249A>C (p.Gln83His)
|
rs1291395600
|
|
NM_030973.4(MED25):c.558G>A (p.Arg186=)
|
rs761471297
|
|
NM_030973.4(MED25):c.580C>T (p.Leu194=)
|
rs2074040770
|
|
NM_030973.4(MED25):c.597C>A (p.Ala199=)
|
rs149788020
|
|
NM_030973.4(MED25):c.807_809del (p.Pro270del)
|
rs767980819
|
|
NM_030973.4(MED25):c.908-3_908-2del
|
rs766739944
|
|
NM_170707.4(LMNA):c.1261C>T (p.Leu421=)
|
rs1194745110
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1639G>A (p.Val547Met)
|
rs201947393
|
|
NM_170707.4(LMNA):c.1968+18dup
|
rs554157057
|
|
NM_170707.4(LMNA):c.486G>A (p.Leu162=)
|
rs727503135
|
|
NM_170707.4(LMNA):c.572T>G (p.Val191Gly)
|
rs752087253
|
|
NM_170707.4(LMNA):c.583A>C (p.Asn195His)
|
rs1651346681
|
|
NM_170707.4(LMNA):c.897C>G (p.Ile299Met)
|
rs762718963
|
|
NM_181882.3(PRX):c.1077C>G (p.Arg359=)
|
rs1357784205
|
|
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Glu40_Gly41insGluAlaAlaArg)
|
rs2079512784
|
|
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
|
rs2079512694
|
|
NM_181882.3(PRX):c.122del (p.Gly41fs)
|
rs2079512738
|
|
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
|
rs2079512634
|
|
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
|
rs2079443969
|
|
NM_181882.3(PRX):c.1491C>G (p.Pro497=)
|
rs1224453835
|
|
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
|
rs753322071
|
|
NM_181882.3(PRX):c.1638A>G (p.Val546=)
|
rs774541568
|
|
NM_181882.3(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669
|
|
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys)
|
rs1318870390
|
|
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro)
|
rs1299743311
|
|
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
|
rs1000191235
|
|
NM_181882.3(PRX):c.1695A>T (p.Pro565=)
|
rs1000191235
|
|
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
|
rs774078598
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
rs768022787
|
|
NM_181882.3(PRX):c.1836C>A (p.Ala612=)
|
rs574899855
|
|
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
|
rs779898963
|
|
NM_181882.3(PRX):c.1986C>T (p.Val662=)
|
rs1279008110
|
|
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr)
|
rs541455813
|
|
NM_181882.3(PRX):c.2297T>C (p.Val766Ala)
|
rs1599653064
|
|
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
|
rs2079430394
|
|
NM_181882.3(PRX):c.2424G>A (p.Lys808=)
|
rs2079430194
|
|
NM_181882.3(PRX):c.2628G>A (p.Met876Ile)
|
rs1307077953
|
|
NM_181882.3(PRX):c.2641C>A (p.Arg881=)
|
rs375201649
|
|
NM_181882.3(PRX):c.2724G>T (p.Leu908=)
|
rs2079426389
|
|
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu)
|
rs1322545345
|
|
NM_181882.3(PRX):c.281_283del (p.Phe94del)
|
rs1424434006
|
|
NM_181882.3(PRX):c.300G>A (p.Val100=)
|
rs747794739
|
|
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu)
|
rs996865233
|
|
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser)
|
rs937051533
|
|
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)
|
rs2079420208
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys)
|
rs2079418168
|
|
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del)
|
rs1359760408
|
|
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val)
|
rs2079417519
|
|
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg)
|
rs778707867
|
|
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
|
rs567285703
|
|
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys)
|
rs2079412833
|
|
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
|
rs2079412133
|
|
NM_181882.3(PRX):c.3831C>G (p.Pro1277=)
|
rs577796628
|
|
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp)
|
rs2079410631
|
|
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
|
rs767394584
|
|
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del)
|
rs139624657
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup)
|
rs139624657
|
|
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
|
rs748112276
|
|
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)
|
rs2079405908
|
|
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)
|
rs1296150158
|
|
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)
|
rs2079404176
|
|
NM_181882.3(PRX):c.44A>G (p.Glu15Gly)
|
rs202192239
|
|
NM_181882.3(PRX):c.500G>A (p.Arg167His)
|
rs757322355
|
|
NM_181882.3(PRX):c.680C>T (p.Ala227Val)
|
rs532808153
|
|
NM_181882.3(PRX):c.682C>G (p.Arg228Gly)
|
rs751238438
|
|
NM_181882.3(PRX):c.682C>T (p.Arg228Cys)
|
rs751238438
|
|
NM_181882.3(PRX):c.717G>T (p.Pro239=)
|
rs761293957
|
|
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
|
rs2079451762
|
|
NM_181882.3(PRX):c.861C>T (p.Ala287=)
|
rs535958285
|
|