NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
NM_022489.4(INF2):c.105C>T (p.Pro35=)
|
rs4983530
|
0.98049
|
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_022489.4(INF2):c.2640T>C (p.Asp880=)
|
rs10133301
|
0.88426
|
NM_030962.4(SBF2):c.4571-6C>T
|
rs2645029
|
0.88084
|
NM_001605.3(AARS1):c.2715T>C (p.Val905=)
|
rs4081753
|
0.85676
|
NM_022489.4(INF2):c.3066T>C (p.Asp1022=)
|
rs4983535
|
0.79980
|
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_022489.4(INF2):c.2310+8del
|
rs3840006
|
0.58720
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_015271.5(TRIM2):c.1032G>A (p.Thr344=)
|
rs893805
|
0.51938
|
NM_021629.4(GNB4):c.-42-410T>A
|
rs6443648
|
0.51577
|
NM_001605.3(AARS1):c.903C>T (p.His301=)
|
rs2070203
|
0.49332
|
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_021629.4(GNB4):c.117T>C (p.Ser39=)
|
rs1362650
|
0.46787
|
NM_014845.6(FIG4):c.447-564T>C
|
rs6568602
|
0.46411
|
NM_005391.5(PDK3):c.107-7948A>C
|
rs7060702
|
0.46363
|
NM_001005373.4(LRSAM1):c.904-9C>T
|
rs1539568
|
0.43695
|
NM_001303256.3(MORC2):c.96C>T (p.Ala32=)
|
rs737924
|
0.40756
|
NM_001303256.3(MORC2):c.1437A>G (p.Pro479=)
|
rs3747151
|
0.39939
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
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_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_001303256.3(MORC2):c.378C>G (p.Thr126=)
|
rs2072132
|
0.29850
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)
|
rs61741379
|
0.28900
|
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_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)
|
rs730600
|
0.27319
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
NM_001365951.3(KIF1B):c.720+17C>T
|
rs1339458
|
0.25792
|
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_022489.4(INF2):c.1949+16A>G
|
rs11850821
|
0.21385
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)
|
rs11228413
|
0.20651
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_020631.6(PLEKHG5):c.1681-20T>C
|
rs2986753
|
0.18735
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_030962.4(SBF2):c.753-16T>A
|
rs7128234
|
0.18140
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262
|
0.15945
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
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_020631.6(PLEKHG5):c.1801-12C>A
|
rs943584
|
0.11198
|
NM_006096.4(NDRG1):c.756-5C>T
|
rs2227262
|
0.11176
|
NM_003680.4(YARS1):c.57+14G>T
|
rs72654020
|
0.10621
|
NM_003680.4(YARS1):c.1218G>C (p.Leu406=)
|
rs699005
|
0.10610
|
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)
|
rs62639695
|
0.10172
|
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_001605.3(AARS1):c.671+3A>G
|
rs74024185
|
0.07668
|
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)
|
rs11537667
|
0.07667
|
NM_014874.4(MFN2):c.2204+15T>C
|
rs77262016
|
0.07571
|
NM_014365.3(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742
|
0.07444
|
NM_020631.6(PLEKHG5):c.43+13G>A
|
rs78593902
|
0.07001
|
NM_022489.4(INF2):c.2775+15C>T
|
rs73347508
|
0.06749
|
NM_002180.3(IGHMBP2):c.1418+18A>G
|
rs112575423
|
0.06280
|
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr)
|
rs74809741
|
0.06203
|
NM_006096.4(NDRG1):c.755+10T>C
|
rs2233336
|
0.06123
|
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val)
|
rs61740145
|
0.06002
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_022489.4(INF2):c.3286C>T (p.Pro1096Ser)
|
rs34251364
|
0.05864
|
NM_030962.4(SBF2):c.909C>T (p.Pro303=)
|
rs16907355
|
0.05858
|
NM_022489.4(INF2):c.843+16C>T
|
rs118017785
|
0.05808
|
NM_014845.6(FIG4):c.2377-19T>C
|
rs72944974
|
0.05800
|
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)
|
rs3138150
|
0.05741
|
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)
|
rs76625876
|
0.05582
|
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=)
|
rs112471131
|
0.05506
|
NM_001303256.3(MORC2):c.966A>T (p.Gly322=)
|
rs16989204
|
0.05416
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_018972.4(GDAP1):c.485-20C>G
|
rs73345392
|
0.04498
|
NM_014874.4(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837
|
0.04459
|
NM_004637.6(RAB7A):c.219C>T (p.Leu73=)
|
rs4548
|
0.04279
|
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270
|
0.04182
|
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502
|
0.04180
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
NM_014845.6(FIG4):c.67-7T>C
|
rs56378532
|
0.04073
|
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577
|
0.04066
|
NM_020631.6(PLEKHG5):c.1393-19C>T
|
rs771920742
|
0.03659
|
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)
|
rs61735578
|
0.03636
|
NM_001122955.4(BSCL2):c.765+15C>T
|
rs79586077
|
0.03596
|
NM_001365951.3(KIF1B):c.4946+9C>T
|
rs72867431
|
0.03521
|
NM_014845.6(FIG4):c.2377-20_2377-19insC
|
rs201752617
|
0.03507
|
NM_021629.4(GNB4):c.48T>C (p.Asn16=)
|
rs1078749
|
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_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu)
|
rs75690855
|
0.03450
|
NM_022489.4(INF2):c.1227G>T (p.Ser409=)
|
rs3809455
|
0.03433
|
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_001365951.3(KIF1B):c.1180+18C>T
|
rs41274456
|
0.03074
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_030962.4(SBF2):c.4933-15T>C
|
rs75447733
|
0.03044
|
NM_014365.3(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028
|
0.03035
|
NM_001376.5(DYNC1H1):c.9469-20A>T
|
rs2720210
|
0.03010
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293
|
0.02854
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)
|
rs61737997
|
0.02621
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)
|
rs114619322
|
0.02505
|
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216
|
0.02416
|
NM_022489.4(INF2):c.2322C>T (p.Thr774=)
|
rs59751492
|
0.02373
|
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_000263.4(NAGLU):c.421T>A (p.Ser141Thr)
|
rs61737294
|
0.02098
|
NM_022489.4(INF2):c.391+18A>T
|
rs115458897
|
0.02077
|
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_022489.4(INF2):c.3478G>A (p.Gly1160Ser)
|
rs9672065
|
0.01930
|
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_024577.4(SH3TC2):c.2872+9G>A
|
rs76488338
|
0.01755
|
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_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)
|
rs3007419
|
0.01628
|
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_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641
|
0.01523
|
NM_030973.4(MED25):c.2031G>A (p.Ala677=)
|
rs57854058
|
0.01517
|
NM_014365.3(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602
|
0.01515
|
NM_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_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln)
|
rs141326782
|
0.01437
|
NM_181882.3(PRX):c.731C>T (p.Ala244Val)
|
rs118071705
|
0.01410
|
NM_022489.4(INF2):c.2571C>T (p.Ser857=)
|
rs62640005
|
0.01396
|
NM_014874.4(MFN2):c.2205-13C>A
|
rs76020240
|
0.01362
|
NM_001303256.3(MORC2):c.699-20T>C
|
rs78973434
|
0.01322
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu)
|
rs61999305
|
0.01293
|
NM_006096.4(NDRG1):c.892-5C>T
|
rs2233346
|
0.01290
|
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_006096.4(NDRG1):c.507G>A (p.Ala169=)
|
rs2233331
|
0.01225
|
NM_015271.5(TRIM2):c.870C>T (p.Asn290=)
|
rs35333794
|
0.01210
|
NM_022489.4(INF2):c.42G>A (p.Leu14=)
|
rs62638758
|
0.01192
|
NM_022489.4(INF2):c.3153C>T (p.Asp1051=)
|
rs117457867
|
0.01185
|
NM_020631.6(PLEKHG5):c.795+8G>A
|
rs114275646
|
0.01154
|
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_022489.4(INF2):c.391+17G>A
|
rs4074531
|
0.01087
|
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_022489.4(INF2):c.1452T>C (p.Cys484=)
|
rs371775604
|
0.01071
|
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_001005361.3(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382
|
0.01064
|
NM_001136472.2(LITAF):c.234G>A (p.Thr78=)
|
rs9282774
|
0.00987
|
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709
|
0.00971
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196
|
0.00962
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=)
|
rs61749272
|
0.00952
|
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206
|
0.00946
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_170707.4(LMNA):c.1158-44C>T
|
rs141879453
|
0.00929
|
NM_001005361.3(DNM2):c.1782-11C>T
|
rs78580529
|
0.00921
|
NM_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_020631.6(PLEKHG5):c.30C>T (p.Asp10=)
|
rs114209691
|
0.00830
|
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_002180.3(IGHMBP2):c.1757-18C>A
|
rs77247855
|
0.00796
|
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=)
|
rs34768188
|
0.00793
|
NM_001370298.3(FGD4):c.1247+10G>T
|
rs41276676
|
0.00792
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del)
|
rs751555478
|
0.00781
|
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln)
|
rs142678449
|
0.00781
|
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu)
|
rs111589086
|
0.00779
|
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_001370298.3(FGD4):c.1470C>T (p.Pro490=)
|
rs16920084
|
0.00752
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)
|
rs149377346
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_001365951.3(KIF1B):c.3864+6A>C
|
rs114266141
|
0.00716
|
NM_001365951.3(KIF1B):c.4055+6A>G
|
rs76519832
|
0.00707
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
NM_014874.4(MFN2):c.970+19G>A
|
rs75865135
|
0.00707
|
NM_030973.4(MED25):c.1482+19G>A
|
rs4802632
|
0.00704
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
NM_030962.4(SBF2):c.1173A>G (p.Ala391=)
|
rs79470805
|
0.00687
|
NM_021625.5(TRPV4):c.1341C>T (p.His447=)
|
rs57316123
|
0.00683
|
NM_001376.5(DYNC1H1):c.5433+17dup
|
rs140185574
|
0.00680
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_001376.5(DYNC1H1):c.13516-16C>T
|
rs28669726
|
0.00656
|
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688
|
0.00646
|
NM_181882.3(PRX):c.2469G>A (p.Ala823=)
|
rs61733450
|
0.00644
|
NM_001122955.4(BSCL2):c.1234+20G>A
|
rs113229350
|
0.00638
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_001005361.3(DNM2):c.1196+773C>T
|
rs150975494
|
0.00628
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_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_001303256.3(MORC2):c.234T>G (p.Ala78=)
|
rs140792905
|
0.00599
|
NM_030973.4(MED25):c.2056C>T (p.Leu686=)
|
rs201969940
|
0.00598
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_014874.4(MFN2):c.744C>T (p.Leu248=)
|
rs61733205
|
0.00591
|
NM_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_181882.3(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201
|
0.00569
|
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)
|
rs151091410
|
0.00568
|
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)
|
rs34555341
|
0.00555
|
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_022489.4(INF2):c.879G>A (p.Ser293=)
|
rs184709736
|
0.00543
|
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611
|
0.00542
|
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)
|
rs113808165
|
0.00541
|
NM_002180.3(IGHMBP2):c.1538-8C>G
|
rs115320302
|
0.00540
|
NM_024577.4(SH3TC2):c.2868A>G (p.Leu956=)
|
rs115507662
|
0.00534
|
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)
|
rs186075307
|
0.00532
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_001005373.4(LRSAM1):c.1044-9T>C
|
rs59501881
|
0.00523
|
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_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_016156.6(MTMR2):c.547G>T (p.Ala183Ser)
|
rs142155860
|
0.00492
|
NM_030962.4(SBF2):c.645T>C (p.Phe215=)
|
rs148187321
|
0.00491
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859
|
0.00486
|
NM_022489.4(INF2):c.1078G>A (p.Val360Ile)
|
rs114820975
|
0.00483
|
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)
|
rs116302604
|
0.00481
|
NM_022489.4(INF2):c.3069C>T (p.Pro1023=)
|
rs75382114
|
0.00477
|
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)
|
rs201323100
|
0.00470
|
NM_000263.4(NAGLU):c.675G>T (p.Leu225=)
|
rs115680529
|
0.00469
|
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser)
|
rs146651455
|
0.00463
|
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_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595
|
0.00455
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
|
rs148560273
|
0.00443
|
NM_020631.6(PLEKHG5):c.440-6A>G
|
rs202049535
|
0.00443
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_002047.4(GARS1):c.2190G>A (p.Glu730=)
|
rs190132116
|
0.00437
|
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)
|
rs41279971
|
0.00436
|
NM_001365951.3(KIF1B):c.4753-20C>A
|
rs192598799
|
0.00436
|
NM_004990.4(MARS1):c.1753+7A>G
|
rs117914586
|
0.00435
|
NM_001303256.3(MORC2):c.1737+4C>T
|
rs5997814
|
0.00421
|
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)
|
rs34658653
|
0.00420
|
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)
|
rs75413741
|
0.00415
|
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
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_006158.5(NEFL):c.1275C>T (p.Gly425=)
|
rs114329068
|
0.00395
|
NM_030973.4(MED25):c.93C>T (p.Tyr31=)
|
rs61742955
|
0.00394
|
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780
|
0.00392
|
NM_001605.3(AARS1):c.962+18T>C
|
rs149761815
|
0.00391
|
NM_016156.6(MTMR2):c.570+11T>C
|
rs182582445
|
0.00390
|
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291
|
0.00390
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_021629.4(GNB4):c.958G>A (p.Val320Ile)
|
rs61750380
|
0.00362
|
NM_001005361.3(DNM2):c.236-8C>G
|
rs143084059
|
0.00361
|
NM_001005361.3(DNM2):c.519T>C (p.Ala173=)
|
rs77702567
|
0.00359
|
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)
|
rs150900416
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_014874.4(MFN2):c.975C>T (p.Gly325=)
|
rs141475476
|
0.00357
|
NM_001005361.3(DNM2):c.1545+14C>G
|
rs114713494
|
0.00350
|
NM_001303256.3(MORC2):c.158-12del
|
rs66613527
|
0.00343
|
NM_003680.4(YARS1):c.1082A>T (p.Glu361Val)
|
rs61737106
|
0.00343
|
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met)
|
rs140786088
|
0.00342
|
NM_004637.6(RAB7A):c.495G>A (p.Ala165=)
|
rs146566121
|
0.00341
|
NM_001303256.3(MORC2):c.2747+5_2747+6del
|
rs67357185
|
0.00339
|
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884
|
0.00337
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
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_004990.4(MARS1):c.626G>A (p.Ser209Asn)
|
rs141671963
|
0.00327
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_016156.6(MTMR2):c.1770+7_1770+12del
|
rs754608173
|
0.00319
|
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys)
|
rs143669846
|
0.00317
|
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_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile)
|
rs146004831
|
0.00293
|
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_030962.4(SBF2):c.4693A>G (p.Ile1565Val)
|
rs115345208
|
0.00285
|
NM_018972.4(GDAP1):c.117+12C>G
|
rs202059380
|
0.00284
|
NM_001303256.3(MORC2):c.226+18T>C
|
rs114021247
|
0.00279
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_006158.5(NEFL):c.584C>T (p.Ala195Val)
|
rs185200977
|
0.00274
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
NM_022489.4(INF2):c.3078C>T (p.Ser1026=)
|
rs377023270
|
0.00272
|
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_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
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_000263.4(NAGLU):c.1563G>A (p.Pro521=)
|
rs61737297
|
0.00252
|
NM_030973.4(MED25):c.2088G>A (p.Leu696=)
|
rs371157406
|
0.00252
|
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu)
|
rs146529868
|
0.00250
|
NM_022489.4(INF2):c.2433C>T (p.Ser811=)
|
rs140010249
|
0.00248
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)
|
rs79327775
|
0.00247
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met)
|
rs3803311
|
0.00242
|
NM_004990.4(MARS1):c.2204+11G>A
|
rs202080192
|
0.00239
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)
|
rs143484278
|
0.00233
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_001303256.3(MORC2):c.63A>G (p.Thr21=)
|
rs73156742
|
0.00230
|
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)
|
rs151083690
|
0.00230
|
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)
|
rs117525287
|
0.00228
|
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)
|
rs41279975
|
0.00227
|
NM_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_001005361.3(DNM2):c.1781+17C>A
|
rs75344643
|
0.00220
|
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe)
|
rs2228205
|
0.00220
|
NM_001303256.3(MORC2):c.2841+20C>T
|
rs192723178
|
0.00218
|
NM_003680.4(YARS1):c.52C>T (p.Leu18=)
|
rs147538442
|
0.00218
|
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)
|
rs112327353
|
0.00216
|
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn)
|
rs148541427
|
0.00214
|
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)
|
rs145115430
|
0.00213
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_022489.4(INF2):c.2138+9G>A
|
rs201065953
|
0.00213
|
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=)
|
rs144016931
|
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_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
0.00209
|
NM_004990.4(MARS1):c.1500A>G (p.Lys500=)
|
rs2290297
|
0.00206
|
NM_021625.5(TRPV4):c.1825-14G>A
|
rs114829048
|
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_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421
|
0.00190
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_006158.5(NEFL):c.1026C>G (p.Ala342=)
|
rs35596950
|
0.00189
|
NM_030973.4(MED25):c.688+17G>A
|
rs373952366
|
0.00188
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_004990.4(MARS1):c.680C>T (p.Thr227Ile)
|
rs73344082
|
0.00186
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_014874.4(MFN2):c.663T>C (p.Asp221=)
|
rs116504054
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839
|
0.00183
|
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=)
|
rs150772386
|
0.00183
|
NM_021625.5(TRPV4):c.1581C>T (p.Thr527=)
|
rs114653066
|
0.00182
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00181
|
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)
|
rs147319762
|
0.00180
|
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=)
|
rs17540624
|
0.00177
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_016156.6(MTMR2):c.1757G>A (p.Arg586Gln)
|
rs61735576
|
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_020631.6(PLEKHG5):c.64G>A (p.Val22Met)
|
rs112530241
|
0.00171
|
NM_001540.5(HSPB1):c.573T>C (p.Leu191=)
|
rs34771861
|
0.00170
|
NM_022489.4(INF2):c.2490-20C>T
|
rs187104422
|
0.00170
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270
|
0.00168
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)
|
rs111967328
|
0.00167
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_030973.4(MED25):c.819+14C>T
|
rs188257265
|
0.00166
|
NM_020631.6(PLEKHG5):c.592-14C>T
|
rs554879611
|
0.00165
|
NM_020631.6(PLEKHG5):c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu721fs)
|
rs1456598112
|
0.00164
|
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
NM_022489.4(INF2):c.3694+13G>C
|
rs776214809
|
0.00163
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_015271.5(TRIM2):c.122G>A (p.Arg41His)
|
rs146705057
|
0.00161
|
NM_021625.5(TRPV4):c.57C>T (p.Pro19=)
|
rs112408790
|
0.00161
|
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=)
|
rs61732221
|
0.00158
|
NM_022489.4(INF2):c.558C>T (p.Ser186=)
|
rs150714865
|
0.00158
|
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_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
0.00156
|
NM_021629.4(GNB4):c.186T>C (p.His62=)
|
rs149798652
|
0.00155
|
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_022489.4(INF2):c.264C>T (p.Gly88=)
|
rs201587219
|
0.00150
|
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser)
|
rs143540449
|
0.00150
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_021625.5(TRPV4):c.1585-18C>T
|
rs201974634
|
0.00148
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386
|
0.00144
|
NM_022489.4(INF2):c.1647A>G (p.Ala549=)
|
rs201674759
|
0.00143
|
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.719G>A (p.Arg240Gln)
|
rs77917609
|
0.00140
|
NM_004990.4(MARS1):c.801C>T (p.Leu267=)
|
rs151260441
|
0.00138
|
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val)
|
rs72861528
|
0.00138
|
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser)
|
rs766635668
|
0.00138
|
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_001605.3(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552
|
0.00137
|
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu)
|
rs59117380
|
0.00137
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00136
|
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr)
|
rs117505788
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)
|
rs146205352
|
0.00135
|
NM_022489.4(INF2):c.3612G>A (p.Ser1204=)
|
rs150811244
|
0.00134
|
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_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992
|
0.00130
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809
|
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_004990.4(MARS1):c.2209C>A (p.Arg737=)
|
rs139536122
|
0.00127
|
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)
|
rs200369827
|
0.00126
|
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_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
NM_003680.4(YARS1):c.1374G>A (p.Pro458=)
|
rs151227410
|
0.00123
|
NM_030973.4(MED25):c.1675-7C>T
|
rs79635160
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)
|
rs146217031
|
0.00119
|
NM_014845.6(FIG4):c.627A>G (p.Leu209=)
|
rs140111406
|
0.00119
|
NM_001005361.3(DNM2):c.386-6T>A
|
rs114623441
|
0.00118
|
NM_001365951.3(KIF1B):c.3259+9A>G
|
rs149566646
|
0.00118
|
NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu)
|
rs144764160
|
0.00118
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)
|
rs148321018
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys)
|
rs201593594
|
0.00116
|
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_001005361.3(DNM2):c.1782-5C>T
|
rs200103145
|
0.00113
|
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile)
|
rs143421325
|
0.00112
|
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=)
|
rs17512877
|
0.00110
|
NM_001376.5(DYNC1H1):c.4185+20C>T
|
rs74948967
|
0.00110
|
NM_030973.4(MED25):c.354C>T (p.Leu118=)
|
rs145574885
|
0.00110
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=)
|
rs149147021
|
0.00109
|
NM_181882.3(PRX):c.580C>T (p.Arg194Cys)
|
rs45521038
|
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_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
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_020631.6(PLEKHG5):c.87G>A (p.Pro29=)
|
rs140892576
|
0.00107
|
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_001005373.4(LRSAM1):c.469A>G (p.Ile157Val)
|
rs150292099
|
0.00105
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
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_001376.5(DYNC1H1):c.3157-11T>C
|
rs367593677
|
0.00103
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00102
|
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_181882.3(PRX):c.3110A>G (p.Glu1037Gly)
|
rs148600818
|
0.00099
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)
|
rs199873407
|
0.00098
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00096
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_001376.5(DYNC1H1):c.8637+12G>A
|
rs17512551
|
0.00096
|
NM_001605.3(AARS1):c.1332G>A (p.Glu444=)
|
rs150442667
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)
|
rs35058636
|
0.00096
|
NM_022489.4(INF2):c.507+7G>A
|
rs201568246
|
0.00095
|
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser)
|
rs76273991
|
0.00093
|
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=)
|
rs150773110
|
0.00093
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=)
|
rs139159572
|
0.00092
|
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=)
|
rs140142437
|
0.00091
|
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=)
|
rs147954772
|
0.00091
|
NM_015271.5(TRIM2):c.2022+13C>T
|
rs372652394
|
0.00091
|
NM_020631.6(PLEKHG5):c.2677G>A (p.Gly893Arg)
|
rs200407689
|
0.00091
|
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)
|
rs111624565
|
0.00091
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00091
|
NM_030973.4(MED25):c.1374+9C>T
|
rs574703435
|
0.00090
|
NM_014874.4(MFN2):c.150C>A (p.Ile50=)
|
rs78841746
|
0.00089
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_001605.3(AARS1):c.2608-6C>A
|
rs200965527
|
0.00088
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
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_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=)
|
rs143258359
|
0.00083
|
NM_004990.4(MARS1):c.1812G>A (p.Gly604=)
|
rs117633211
|
0.00083
|
NM_004990.4(MARS1):c.477C>T (p.Pro159=)
|
rs117101415
|
0.00083
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_022489.4(INF2):c.1950-10C>T
|
rs199987321
|
0.00082
|
NM_001605.3(AARS1):c.1632C>T (p.Asp544=)
|
rs149425243
|
0.00081
|
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321
|
0.00081
|
NM_030973.4(MED25):c.638T>C (p.Val213Ala)
|
rs144892223
|
0.00081
|
NM_001122955.4(BSCL2):c.487-14G>A
|
rs189771133
|
0.00080
|
NM_001365951.3(KIF1B):c.2757C>T (p.Asp919=)
|
rs78013543
|
0.00080
|
NM_001005361.3(DNM2):c.2059-5C>T
|
rs377150057
|
0.00078
|
NM_001005373.4(LRSAM1):c.1131T>A (p.Thr377=)
|
rs141912153
|
0.00078
|
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)
|
rs146972491
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)
|
rs34013442
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
|
rs114605439
|
0.00077
|
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=)
|
rs141998703
|
0.00077
|
NM_181882.3(PRX):c.2494G>C (p.Val832Leu)
|
rs116139153
|
0.00077
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=)
|
rs111459275
|
0.00075
|
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile)
|
rs199773459
|
0.00075
|
NM_181882.3(PRX):c.2094A>G (p.Glu698=)
|
rs1396877491
|
0.00075
|
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)
|
rs145390629
|
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_001605.3(AARS1):c.2369A>T (p.Asp790Val)
|
rs555357914
|
0.00072
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00072
|
NM_002047.4(GARS1):c.1724T>C (p.Ile575Thr)
|
rs181912750
|
0.00071
|
NM_002180.3(IGHMBP2):c.1418+11C>T
|
rs201279838
|
0.00071
|
NM_004990.4(MARS1):c.1689C>T (p.Val563=)
|
rs117833843
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)
|
rs35843015
|
0.00070
|
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)
|
rs76784113
|
0.00069
|
NM_001376.5(DYNC1H1):c.12684+19A>G
|
rs377124918
|
0.00068
|
NM_004990.4(MARS1):c.1447C>T (p.Arg483Cys)
|
rs143007366
|
0.00068
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
NM_004990.4(MARS1):c.280-18A>G
|
rs141020578
|
0.00068
|
NM_001365951.3(KIF1B):c.959-17A>G
|
rs372958251
|
0.00067
|
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=)
|
rs77833016
|
0.00067
|
NM_181882.3(PRX):c.3145G>A (p.Gly1049Ser)
|
rs186086914
|
0.00067
|
NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)
|
rs141323599
|
0.00066
|
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)
|
rs146851019
|
0.00066
|
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=)
|
rs140336379
|
0.00065
|
NM_001365951.3(KIF1B):c.184-19C>T
|
rs184562782
|
0.00065
|
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652
|
0.00065
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)
|
rs750958357
|
0.00065
|
NM_001005373.4(LRSAM1):c.406+15G>T
|
rs201808404
|
0.00064
|
NM_015271.5(TRIM2):c.1017C>T (p.Ile339=)
|
rs115515921
|
0.00064
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=)
|
rs181021573
|
0.00063
|
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp)
|
rs149456922
|
0.00063
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313
|
0.00063
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_004990.4(MARS1):c.490+14A>G
|
rs74832951
|
0.00063
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
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_006158.5(NEFL):c.1044+20A>T
|
rs373892107
|
0.00062
|
NM_022489.4(INF2):c.1329A>C (p.Pro443=)
|
rs769756576
|
0.00062
|
NM_181882.3(PRX):c.499C>T (p.Arg167Cys)
|
rs10425452
|
0.00062
|
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)
|
rs144493873
|
0.00061
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00061
|
NM_004990.4(MARS1):c.663+11G>A
|
rs76150936
|
0.00061
|
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=)
|
rs116558260
|
0.00061
|
NM_021629.4(GNB4):c.668C>T (p.Thr223Met)
|
rs144385061
|
0.00061
|
NM_001376.5(DYNC1H1):c.12903-14C>T
|
rs139935428
|
0.00060
|
NM_006096.4(NDRG1):c.389+8C>T
|
rs375532877
|
0.00060
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027
|
0.00059
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_004990.4(MARS1):c.1636-9T>C
|
rs373186969
|
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_030962.4(SBF2):c.4947G>A (p.Leu1649=)
|
rs149659495
|
0.00059
|
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)
|
rs118003416
|
0.00059
|
NM_001136472.2(LITAF):c.377+13C>G
|
rs200357430
|
0.00058
|
NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val)
|
rs150687712
|
0.00058
|
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
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_181882.3(PRX):c.3769G>A (p.Gly1257Arg)
|
rs200332462
|
0.00058
|
NM_018972.4(GDAP1):c.459G>A (p.Pro153=)
|
rs149804782
|
0.00057
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
NM_001005373.4(LRSAM1):c.414G>A (p.Lys138=)
|
rs151323851
|
0.00056
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857
|
0.00056
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_001540.5(HSPB1):c.240A>G (p.Gln80=)
|
rs377246178
|
0.00056
|
NM_001605.3(AARS1):c.600C>T (p.Ala200=)
|
rs150080663
|
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_001303256.3(MORC2):c.2193+15C>T
|
rs201301518
|
0.00055
|
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)
|
rs147734401
|
0.00054
|
NM_006096.4(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318
|
0.00054
|
NM_006158.5(NEFL):c.1059A>G (p.Lys353=)
|
rs190841835
|
0.00054
|
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=)
|
rs138490175
|
0.00054
|
NM_020631.6(PLEKHG5):c.3011+9C>T
|
rs144809602
|
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_030973.4(MED25):c.602C>T (p.Pro201Leu)
|
rs144354024
|
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_024577.4(SH3TC2):c.3456C>T (p.Ala1152=)
|
rs530810802
|
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_001376.5(DYNC1H1):c.2448C>T (p.Ile816=)
|
rs145405293
|
0.00052
|
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)
|
rs139661803
|
0.00052
|
NM_018972.4(GDAP1):c.474A>G (p.Thr158=)
|
rs202215041
|
0.00052
|
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)
|
rs149967939
|
0.00052
|
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)
|
rs145203783
|
0.00052
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_022489.4(INF2):c.2138+12C>T
|
rs186410473
|
0.00051
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val)
|
rs141368249
|
0.00051
|
NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile)
|
rs528790143
|
0.00050
|
NM_020631.6(PLEKHG5):c.1023G>A (p.Val341=)
|
rs199903533
|
0.00050
|
NM_001005373.4(LRSAM1):c.2121G>A (p.Pro707=)
|
rs570732998
|
0.00049
|
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=)
|
rs17540735
|
0.00049
|
NM_001540.5(HSPB1):c.438C>T (p.Pro146=)
|
rs7805625
|
0.00049
|
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)
|
rs143986510
|
0.00049
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)
|
rs201077878
|
0.00048
|
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_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)
|
rs148468522
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_001303256.3(MORC2):c.1499-9T>C
|
rs201213165
|
0.00047
|
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln)
|
rs199801767
|
0.00047
|
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.11595+12T>C
|
rs200110362
|
0.00046
|
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=)
|
rs116089522
|
0.00046
|
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=)
|
rs150603103
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_014365.3(HSPB8):c.171C>T (p.Ser57=)
|
rs143010542
|
0.00046
|
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
|
rs144199299
|
0.00046
|
NM_020631.6(PLEKHG5):c.1801-14del
|
rs762416489
|
0.00046
|
NM_021625.5(TRPV4):c.898A>G (p.Ile300Val)
|
rs114612488
|
0.00046
|
NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg)
|
rs138429238
|
0.00046
|
NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly)
|
rs201951073
|
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_181882.3(PRX):c.2832T>C (p.Ala944=)
|
rs145226687
|
0.00046
|
NM_181882.3(PRX):c.381+18G>A
|
rs147585269
|
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_001605.3(AARS1):c.2178-14G>A
|
rs371633904
|
0.00045
|
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=)
|
rs376823275
|
0.00045
|
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr)
|
rs149244124
|
0.00045
|
NM_001365951.3(KIF1B):c.1435-15C>T
|
rs371838261
|
0.00044
|
NM_001365951.3(KIF1B):c.4925G>A (p.Arg1642Lys)
|
rs190124441
|
0.00044
|
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=)
|
rs181697853
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)
|
rs144681826
|
0.00044
|
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)
|
rs146146070
|
0.00044
|
NM_006096.4(NDRG1):c.891+5G>A
|
rs150968034
|
0.00044
|
NM_014874.4(MFN2):c.72G>T (p.Val24=)
|
rs138454088
|
0.00044
|
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674
|
0.00043
|
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)
|
rs140676897
|
0.00043
|
NM_014365.3(HSPB8):c.432-16C>T
|
rs183447670
|
0.00043
|
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu)
|
rs115861965
|
0.00043
|
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418
|
0.00043
|
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr)
|
rs189559257
|
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_021625.5(TRPV4):c.1093G>A (p.Val365Met)
|
rs570675468
|
0.00042
|
NM_181882.3(PRX):c.1397C>T (p.Pro466Leu)
|
rs144530674
|
0.00042
|
NM_181882.3(PRX):c.966G>T (p.Val322=)
|
rs139544245
|
0.00042
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_001605.3(AARS1):c.1428G>C (p.Arg476=)
|
rs80257731
|
0.00041
|
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg)
|
rs149577588
|
0.00041
|
NM_003680.4(YARS1):c.1486A>G (p.Lys496Glu)
|
rs200375230
|
0.00041
|
NM_004990.4(MARS1):c.1293+16C>A
|
rs200792020
|
0.00041
|
NM_004990.4(MARS1):c.42G>T (p.Pro14=)
|
rs144002827
|
0.00041
|
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)
|
rs144859183
|
0.00041
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_030962.4(SBF2):c.4444-18T>G
|
rs143439179
|
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_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys)
|
rs149990643
|
0.00040
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
NM_001605.3(AARS1):c.2722-16C>T
|
rs373540049
|
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_004990.4(MARS1):c.986C>A (p.Pro329His)
|
rs145260922
|
0.00040
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339
|
0.00039
|
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg)
|
rs140151379
|
0.00039
|
NM_004637.6(RAB7A):c.87G>A (p.Val29=)
|
rs145441548
|
0.00039
|
NM_004990.4(MARS1):c.2204+10C>T
|
rs376636502
|
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_030962.4(SBF2):c.1965G>A (p.Thr655=)
|
rs143732754
|
0.00039
|
NM_030962.4(SBF2):c.291G>A (p.Lys97=)
|
rs150056369
|
0.00039
|
NM_001365951.3(KIF1B):c.4356A>G (p.Thr1452=)
|
rs150358670
|
0.00038
|
NM_001605.3(AARS1):c.741G>A (p.Leu247=)
|
rs148075561
|
0.00038
|
NM_014845.6(FIG4):c.2459+5G>A
|
rs367944508
|
0.00038
|
NM_015271.5(TRIM2):c.1671G>T (p.Pro557=)
|
rs150231451
|
0.00038
|
NM_022489.4(INF2):c.1773C>T (p.Asp591=)
|
rs201853087
|
0.00038
|
NM_022489.4(INF2):c.2181G>A (p.Ala727=)
|
rs370830904
|
0.00038
|
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=)
|
rs145345364
|
0.00038
|
NM_181882.3(PRX):c.4265G>A (p.Arg1422Gln)
|
rs142436702
|
0.00038
|
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr)
|
rs142567076
|
0.00037
|
NM_001370298.3(FGD4):c.1440T>C (p.His480=)
|
rs150223260
|
0.00037
|
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=)
|
rs150374820
|
0.00037
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
NM_002047.4(GARS1):c.1032-15C>T
|
rs201868189
|
0.00037
|
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613
|
0.00037
|
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)
|
rs150428018
|
0.00037
|
NM_021629.4(GNB4):c.243T>C (p.Ile81=)
|
rs200696108
|
0.00037
|
NM_001005361.3(DNM2):c.1493+12T>C
|
rs200489732
|
0.00036
|
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)
|
rs151018278
|
0.00036
|
NM_002047.4(GARS1):c.1904-18T>C
|
rs41275991
|
0.00036
|
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907
|
0.00036
|
NM_014874.4(MFN2):c.1728C>T (p.Pro576=)
|
rs147802404
|
0.00036
|
NM_015271.5(TRIM2):c.1116C>T (p.Ser372=)
|
rs139093547
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_021629.4(GNB4):c.203+13C>G
|
rs371162080
|
0.00036
|
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser)
|
rs760986113
|
0.00036
|
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys)
|
rs201445955
|
0.00036
|
NM_022489.4(INF2):c.3747G>A (p.Gln1249=)
|
rs149939482
|
0.00036
|
NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met)
|
rs148155691
|
0.00036
|
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)
|
rs751621364
|
0.00036
|
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
|
rs141783628
|
0.00036
|
NM_030973.4(MED25):c.1231-8C>T
|
rs200594031
|
0.00036
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00036
|
NM_030973.4(MED25):c.679G>A (p.Val227Met)
|
rs369825113
|
0.00036
|
NM_181882.3(PRX):c.540G>A (p.Pro180=)
|
rs371243093
|
0.00036
|
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447
|
0.00035
|
NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)
|
rs760944483
|
0.00035
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=)
|
rs139070737
|
0.00035
|
NM_004990.4(MARS1):c.915C>T (p.Thr305=)
|
rs199641659
|
0.00035
|
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser)
|
rs199912457
|
0.00035
|
NM_024577.4(SH3TC2):c.1172T>G (p.Leu391Arg)
|
rs141544031
|
0.00035
|
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)
|
rs202119177
|
0.00035
|
NM_001005373.4(LRSAM1):c.350T>C (p.Met117Thr)
|
rs201772539
|
0.00034
|
NM_001365951.3(KIF1B):c.429+13G>A
|
rs199792028
|
0.00034
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_001376.5(DYNC1H1):c.5239-13C>A
|
rs373351097
|
0.00034
|
NM_001605.3(AARS1):c.480-9C>T
|
rs376371821
|
0.00034
|
NM_001605.3(AARS1):c.966T>C (p.Tyr322=)
|
rs145859060
|
0.00034
|
NM_003680.4(YARS1):c.1008G>A (p.Leu336=)
|
rs140232925
|
0.00034
|
NM_005391.5(PDK3):c.750+5G>A
|
rs187646579
|
0.00034
|
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser)
|
rs146686472
|
0.00034
|
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)
|
rs200641225
|
0.00034
|
NM_021629.4(GNB4):c.916+10_916+11insG
|
rs537195612
|
0.00034
|
NM_022489.4(INF2):c.37G>A (p.Ala13Thr)
|
rs201383094
|
0.00034
|
NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly)
|
rs151317042
|
0.00034
|
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=)
|
rs145528276
|
0.00034
|
NM_181882.3(PRX):c.2817G>A (p.Ser939=)
|
rs112544351
|
0.00034
|
NM_181882.3(PRX):c.3324G>A (p.Glu1108=)
|
rs111964746
|
0.00034
|
NM_181882.3(PRX):c.3960C>T (p.Ala1320=)
|
rs149626915
|
0.00034
|
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)
|
rs142609007
|
0.00033
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_002047.4(GARS1):c.675G>A (p.Leu225=)
|
rs369203473
|
0.00033
|
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys)
|
rs201534539
|
0.00033
|
NM_022489.4(INF2):c.3476G>A (p.Arg1159His)
|
rs200591522
|
0.00033
|
NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe)
|
rs144733764
|
0.00033
|
NM_030962.4(SBF2):c.705T>C (p.Ser235=)
|
rs143209062
|
0.00033
|
NM_181882.3(PRX):c.960G>A (p.Ser320=)
|
rs775367319
|
0.00033
|
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
|
rs181735466
|
0.00032
|
NM_001365951.3(KIF1B):c.2663A>G (p.Lys888Arg)
|
rs147600470
|
0.00032
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_014845.6(FIG4):c.2459+14A>C
|
rs200078556
|
0.00032
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_022489.4(INF2):c.2775+20C>A
|
rs532636302
|
0.00032
|
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)
|
rs149873249
|
0.00032
|
NM_181882.3(PRX):c.285C>T (p.Cys95=)
|
rs531527827
|
0.00032
|
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln)
|
rs369439346
|
0.00031
|
NM_001005373.4(LRSAM1):c.252+16C>G
|
rs367844312
|
0.00031
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
NM_001303256.3(MORC2):c.2989C>T (p.Leu997=)
|
rs142766430
|
0.00031
|
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=)
|
rs145846362
|
0.00031
|
NM_004990.4(MARS1):c.109+18G>C
|
rs372722438
|
0.00031
|
NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly)
|
rs149432418
|
0.00031
|
NM_006096.4(NDRG1):c.808-12C>T
|
rs368230609
|
0.00031
|
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys)
|
rs138376077
|
0.00031
|
NM_021625.5(TRPV4):c.426G>A (p.Pro142=)
|
rs145327152
|
0.00031
|
NM_022489.4(INF2):c.639G>A (p.Ala213=)
|
rs149858291
|
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_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met)
|
rs148383122
|
0.00030
|
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)
|
rs147187788
|
0.00030
|
NM_004990.4(MARS1):c.1754-4C>A
|
rs377361080
|
0.00030
|
NM_006158.5(NEFL):c.207G>A (p.Glu69=)
|
rs367732440
|
0.00030
|
NM_020631.6(PLEKHG5):c.2424G>A (p.Val808=)
|
rs151184761
|
0.00030
|
NM_022489.4(INF2):c.1632T>C (p.His544=)
|
rs374940901
|
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_030973.4(MED25):c.2208C>T (p.Ser736=)
|
rs376796439
|
0.00030
|
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
|
rs146715254
|
0.00029
|
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=)
|
rs199887448
|
0.00029
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
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_003680.4(YARS1):c.505C>T (p.Leu169=)
|
rs149741618
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_020631.6(PLEKHG5):c.1530C>T (p.Ala510=)
|
rs61734080
|
0.00029
|
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln)
|
rs149682441
|
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_022489.4(INF2):c.2187C>T (p.Ala729=)
|
rs766576610
|
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_001005361.3(DNM2):c.589+17G>T
|
rs374377836
|
0.00028
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
|
rs146266992
|
0.00028
|
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)
|
rs370666430
|
0.00028
|
NM_022489.4(INF2):c.609C>T (p.Ala203=)
|
rs140017506
|
0.00028
|
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_170707.4(LMNA):c.192C>T (p.Thr64=)
|
rs137969290
|
0.00028
|
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669
|
0.00027
|
NM_001376.5(DYNC1H1):c.12513+17C>T
|
rs368189529
|
0.00027
|
NM_030962.4(SBF2):c.513+18A>T
|
rs201201683
|
0.00027
|
NM_181882.3(PRX):c.2106C>T (p.Pro702=)
|
rs183461864
|
0.00027
|
NM_000263.4(NAGLU):c.764+10C>T
|
rs372400832
|
0.00026
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_001376.5(DYNC1H1):c.9774A>G (p.Gln3258=)
|
rs528520653
|
0.00026
|
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)
|
rs149736203
|
0.00026
|
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490
|
0.00026
|
NM_004990.4(MARS1):c.369C>T (p.His123=)
|
rs145292793
|
0.00026
|
NM_014845.6(FIG4):c.1751-16A>G
|
rs200778905
|
0.00026
|
NM_016156.6(MTMR2):c.1563C>A (p.Leu521=)
|
rs772490648
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu)
|
rs572530276
|
0.00026
|
NM_021625.5(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510
|
0.00026
|
NM_022489.4(INF2):c.1929C>T (p.Ile643=)
|
rs756712490
|
0.00026
|
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_030973.4(MED25):c.404+16A>G
|
rs190980102
|
0.00026
|
NM_181882.3(PRX):c.2837C>T (p.Ala946Val)
|
rs139700059
|
0.00026
|
NM_001136472.2(LITAF):c.32C>T (p.Thr11Ile)
|
rs200702853
|
0.00025
|
NM_001303256.3(MORC2):c.78C>T (p.His26=)
|
rs562260543
|
0.00025
|
NM_001376.5(DYNC1H1):c.13515+18G>A
|
rs200633553
|
0.00025
|
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
|
rs138327042
|
0.00025
|
NM_004990.4(MARS1):c.415-5C>A
|
rs747351446
|
0.00025
|
NM_006096.4(NDRG1):c.943+18C>T
|
rs80294106
|
0.00025
|
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)
|
rs201241092
|
0.00025
|
NM_030962.4(SBF2):c.4515G>A (p.Val1505=)
|
rs144935862
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)
|
rs550446238
|
0.00025
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln)
|
rs143479340
|
0.00024
|
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=)
|
rs373990000
|
0.00024
|
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu)
|
rs150820300
|
0.00024
|
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)
|
rs138532996
|
0.00024
|
NM_001136472.2(LITAF):c.108T>G (p.Pro36=)
|
rs140990446
|
0.00024
|
NM_001303256.3(MORC2):c.2617G>T (p.Val873Leu)
|
rs138350528
|
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_001365951.3(KIF1B):c.3798-17G>A
|
rs369489193
|
0.00024
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
0.00024
|
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile)
|
rs1332902634
|
0.00024
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668
|
0.00024
|
NM_001540.5(HSPB1):c.531C>T (p.Asn177=)
|
rs754873919
|
0.00024
|
NM_001605.3(AARS1):c.1839C>T (p.Phe613=)
|
rs141374386
|
0.00024
|
NM_001605.3(AARS1):c.480-12C>G
|
rs199728312
|
0.00024
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
NM_002047.4(GARS1):c.669G>A (p.Gln223=)
|
rs1051323034
|
0.00024
|
NM_003680.4(YARS1):c.510+10G>C
|
rs201272488
|
0.00024
|
NM_003680.4(YARS1):c.60G>A (p.Glu20=)
|
rs143712443
|
0.00024
|
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172
|
0.00024
|
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)
|
rs141871482
|
0.00024
|
NM_014874.4(MFN2):c.1101G>C (p.Gln367His)
|
rs373211062
|
0.00024
|
NM_020631.6(PLEKHG5):c.2070T>C (p.Arg690=)
|
rs141100808
|
0.00024
|
NM_030962.4(SBF2):c.2938A>G (p.Ile980Val)
|
rs148625171
|
0.00024
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
NM_001303256.3(MORC2):c.1499-12T>G
|
rs774266265
|
0.00023
|
NM_001303256.3(MORC2):c.939T>A (p.Ala313=)
|
rs755275051
|
0.00023
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_001376.5(DYNC1H1):c.4075-6C>T
|
rs377411812
|
0.00023
|
NM_002047.4(GARS1):c.51G>A (p.Leu17=)
|
rs202117737
|
0.00023
|
NM_021629.4(GNB4):c.853T>G (p.Leu285Val)
|
rs554623238
|
0.00023
|
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr)
|
rs376067427
|
0.00023
|
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175
|
0.00023
|
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly)
|
rs145647154
|
0.00023
|
NM_001005361.3(DNM2):c.1546-16C>T
|
rs375554484
|
0.00022
|
NM_001005361.3(DNM2):c.1893+18G>A
|
rs368748557
|
0.00022
|
NM_001303256.3(MORC2):c.3030+9G>C
|
rs200086094
|
0.00022
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_001376.5(DYNC1H1):c.8638-7T>C
|
rs201446705
|
0.00022
|
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=)
|
rs201041097
|
0.00022
|
NM_001605.3(AARS1):c.2217C>T (p.Ile739=)
|
rs770980206
|
0.00022
|
NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys)
|
rs137894161
|
0.00022
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179
|
0.00022
|
NM_014845.6(FIG4):c.2460-8A>G
|
rs201965891
|
0.00022
|
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
|
rs552856153
|
0.00022
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_015271.5(TRIM2):c.816C>T (p.Leu272=)
|
rs149607572
|
0.00022
|
NM_021625.5(TRPV4):c.1584+12G>T
|
rs375908611
|
0.00022
|
NM_021629.4(GNB4):c.97-14G>A
|
rs370924983
|
0.00022
|
NM_022489.4(INF2):c.1736-18C>T
|
rs199612826
|
0.00022
|
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe)
|
rs201715539
|
0.00022
|
NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met)
|
rs138303846
|
0.00022
|
NM_030973.4(MED25):c.134+20C>T
|
rs372600662
|
0.00022
|
NM_181882.3(PRX):c.3306C>T (p.Val1102=)
|
rs774667067
|
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_000263.4(NAGLU):c.1350G>A (p.Gln450=)
|
rs143689867
|
0.00021
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590
|
0.00021
|
NM_001005373.4(LRSAM1):c.1780C>T (p.Arg594Cys)
|
rs150062009
|
0.00021
|
NM_001136472.2(LITAF):c.226G>A (p.Val76Met)
|
rs371334679
|
0.00021
|
NM_001303256.3(MORC2):c.2649C>T (p.Val883=)
|
rs189421529
|
0.00021
|
NM_001365951.3(KIF1B):c.4753-9C>T
|
rs375366137
|
0.00021
|
NM_001370298.3(FGD4):c.1923-7A>G
|
rs200542541
|
0.00021
|
NM_001370298.3(FGD4):c.2193C>T (p.Ser731=)
|
rs147136365
|
0.00021
|
NM_001376.5(DYNC1H1):c.11862C>T (p.Asp3954=)
|
rs140543419
|
0.00021
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810
|
0.00021
|
NM_001376.5(DYNC1H1):c.5050-3C>T
|
rs372462176
|
0.00021
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135
|
0.00021
|
NM_001605.3(AARS1):c.2721+8C>T
|
rs577958349
|
0.00021
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=)
|
rs370850999
|
0.00021
|
NM_004990.4(MARS1):c.1149T>C (p.Thr383=)
|
rs139772690
|
0.00021
|
NM_006096.4(NDRG1):c.613G>A (p.Val205Met)
|
rs138839833
|
0.00021
|
NM_014845.6(FIG4):c.1479C>G (p.Thr493=)
|
rs144072304
|
0.00021
|
NM_016156.6(MTMR2):c.1353A>G (p.Lys451=)
|
rs114336434
|
0.00021
|
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
0.00021
|
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)
|
rs140817021
|
0.00021
|
NM_021625.5(TRPV4):c.1421A>G (p.Asn474Ser)
|
rs150461804
|
0.00021
|
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)
|
rs139580010
|
0.00021
|
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)
|
rs117860293
|
0.00021
|
NM_030962.4(SBF2):c.56-8A>C
|
rs369979138
|
0.00021
|
NM_030973.4(MED25):c.1002C>T (p.Gly334=)
|
rs142842628
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_181882.3(PRX):c.1510C>T (p.Leu504Phe)
|
rs192607896
|
0.00021
|
NM_181882.3(PRX):c.2190C>G (p.Pro730=)
|
rs1336238948
|
0.00021
|
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln)
|
rs142782210
|
0.00020
|
NM_001005373.4(LRSAM1):c.570G>A (p.Arg190=)
|
rs545814024
|
0.00020
|
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647
|
0.00020
|
NM_001303256.3(MORC2):c.1370-17C>T
|
rs200368726
|
0.00020
|
NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=)
|
rs138812699
|
0.00020
|
NM_001370298.3(FGD4):c.2625T>C (p.Ala875=)
|
rs200144770
|
0.00020
|
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile)
|
rs200731839
|
0.00020
|
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=)
|
rs112261870
|
0.00020
|
NM_001605.3(AARS1):c.2520+19A>G
|
rs376619331
|
0.00020
|
NM_003680.4(YARS1):c.1228G>A (p.Val410Met)
|
rs146393022
|
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_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_022489.4(INF2):c.2409C>T (p.His803=)
|
rs767953575
|
0.00020
|
NM_022489.4(INF2):c.3040+16A>G
|
rs367565825
|
0.00020
|
NM_030962.4(SBF2):c.3652+18A>C
|
rs569103394
|
0.00020
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_030973.4(MED25):c.1132G>A (p.Gly378Ser)
|
rs138166258
|
0.00020
|
NM_181882.3(PRX):c.1987C>T (p.Pro663Ser)
|
rs149183991
|
0.00020
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
|
rs149875730
|
0.00019
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu)
|
rs142085060
|
0.00019
|
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)
|
rs140208002
|
0.00019
|
NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val)
|
rs140896339
|
0.00019
|
NM_001122955.4(BSCL2):c.992G>A (p.Arg331His)
|
rs201229787
|
0.00019
|
NM_001303256.3(MORC2):c.1754G>A (p.Arg585His)
|
rs137983239
|
0.00019
|
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu)
|
rs199973357
|
0.00019
|
NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)
|
rs150411706
|
0.00019
|
NM_001365951.3(KIF1B):c.106+10T>A
|
rs368714043
|
0.00019
|
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=)
|
rs140229905
|
0.00019
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322
|
0.00019
|
NM_001376.5(DYNC1H1):c.12214+20T>C
|
rs200763934
|
0.00019
|
NM_001376.5(DYNC1H1):c.12400-13C>T
|
rs201722021
|
0.00019
|
NM_001376.5(DYNC1H1):c.256+13G>C
|
rs376513039
|
0.00019
|
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=)
|
rs75113705
|
0.00019
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=)
|
rs34287672
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_001605.3(AARS1):c.1493-7T>C
|
rs376087556
|
0.00019
|
NM_001605.3(AARS1):c.2817G>A (p.Gln939=)
|
rs140048586
|
0.00019
|
NM_001605.3(AARS1):c.561C>T (p.Cys187=)
|
rs78523270
|
0.00019
|
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His)
|
rs201640213
|
0.00019
|
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=)
|
rs139065967
|
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_006096.4(NDRG1):c.1027C>T (p.Arg343Cys)
|
rs146613168
|
0.00019
|
NM_006158.5(NEFL):c.360C>T (p.Ala120=)
|
rs368829273
|
0.00019
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_014874.4(MFN2):c.971-16A>G
|
rs374822911
|
0.00019
|
NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr)
|
rs200083635
|
0.00019
|
NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln)
|
rs140597591
|
0.00019
|
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)
|
rs150666859
|
0.00019
|
NM_021625.5(TRPV4):c.2209-5C>T
|
rs374184761
|
0.00019
|
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871
|
0.00019
|
NM_022489.4(INF2):c.3013A>G (p.Met1005Val)
|
rs368569489
|
0.00019
|
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122
|
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_030962.4(SBF2):c.3223C>T (p.Arg1075Cys)
|
rs750021823
|
0.00019
|
NM_030962.4(SBF2):c.4699-9C>A
|
rs376668219
|
0.00019
|
NM_030962.4(SBF2):c.4799C>T (p.Thr1600Ile)
|
rs183468503
|
0.00019
|
NM_030962.4(SBF2):c.651A>G (p.Ala217=)
|
rs200293270
|
0.00019
|
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr)
|
rs565094384
|
0.00019
|
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln)
|
rs146222815
|
0.00019
|
NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro)
|
rs149093940
|
0.00019
|
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)
|
rs757322355
|
0.00019
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00018
|
NM_001136472.2(LITAF):c.241G>A (p.Val81Met)
|
rs201653834
|
0.00018
|
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)
|
rs150904940
|
0.00018
|
NM_001365951.3(KIF1B):c.4824+15T>G
|
rs201508062
|
0.00018
|
NM_001376.5(DYNC1H1):c.12795C>T (p.Leu4265=)
|
rs371160908
|
0.00018
|
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726
|
0.00018
|
NM_014845.6(FIG4):c.2235C>T (p.Ala745=)
|
rs144830399
|
0.00018
|
NM_014845.6(FIG4):c.328A>G (p.Ile110Val)
|
rs140331779
|
0.00018
|
NM_014874.4(MFN2):c.175+9G>A
|
rs373340717
|
0.00018
|
NM_015271.5(TRIM2):c.915C>T (p.Ser305=)
|
rs570315105
|
0.00018
|
NM_020631.6(PLEKHG5):c.639G>A (p.Ala213=)
|
rs560366406
|
0.00018
|
NM_022489.4(INF2):c.2418+10G>T
|
rs748035327
|
0.00018
|
NM_024577.4(SH3TC2):c.1788T>A (p.Gly596=)
|
rs141893132
|
0.00018
|
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=)
|
rs141789598
|
0.00018
|
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)
|
rs148793803
|
0.00018
|
NM_030973.4(MED25):c.1482C>T (p.Phe494=)
|
rs185234938
|
0.00018
|
NM_030973.4(MED25):c.247C>G (p.Gln83Glu)
|
rs143148835
|
0.00018
|
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp)
|
rs201337455
|
0.00018
|
NM_181882.3(PRX):c.2199T>C (p.Pro733=)
|
rs1277285038
|
0.00018
|
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564
|
0.00017
|
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val)
|
rs140905880
|
0.00017
|
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)
|
rs146456266
|
0.00017
|
NM_001005361.3(DNM2):c.480C>T (p.Ile160=)
|
rs140036663
|
0.00017
|
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835
|
0.00017
|
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp)
|
rs186458188
|
0.00017
|
NM_001303256.3(MORC2):c.905-10T>G
|
rs372985596
|
0.00017
|
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)
|
rs142881321
|
0.00017
|
NM_001365951.3(KIF1B):c.3688+15C>T
|
rs374936352
|
0.00017
|
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln)
|
rs373439616
|
0.00017
|
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
|
rs192742245
|
0.00017
|
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=)
|
rs140154194
|
0.00017
|
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=)
|
rs112811548
|
0.00017
|
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp)
|
rs768231851
|
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_015271.5(TRIM2):c.520G>A (p.Ala174Thr)
|
rs200706275
|
0.00017
|
NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr)
|
rs532885622
|
0.00017
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=)
|
rs367560509
|
0.00017
|
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)
|
rs191964053
|
0.00017
|
NM_030973.4(MED25):c.1095G>A (p.Pro365=)
|
rs373128874
|
0.00017
|
NM_181882.3(PRX):c.2091T>C (p.Pro697=)
|
rs1390777490
|
0.00017
|
NM_181882.3(PRX):c.2278G>A (p.Val760Met)
|
rs548905150
|
0.00017
|
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)
|
rs367876251
|
0.00017
|
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu)
|
rs201393544
|
0.00017
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042
|
0.00016
|
NM_000263.4(NAGLU):c.678+4A>G
|
rs368199655
|
0.00016
|
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)
|
rs149466797
|
0.00016
|
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)
|
rs370926100
|
0.00016
|
NM_001303256.3(MORC2):c.774T>C (p.His258=)
|
rs747931761
|
0.00016
|
NM_001365951.3(KIF1B):c.3131G>A (p.Ser1044Asn)
|
rs769602520
|
0.00016
|
NM_001365951.3(KIF1B):c.4855C>G (p.Pro1619Ala)
|
rs146177892
|
0.00016
|
NM_001365951.3(KIF1B):c.608+14T>G
|
rs151026584
|
0.00016
|
NM_001370298.3(FGD4):c.1404+10C>T
|
rs374656859
|
0.00016
|
NM_001370298.3(FGD4):c.1759A>G (p.Met587Val)
|
rs201186597
|
0.00016
|
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)
|
rs376608392
|
0.00016
|
NM_001376.5(DYNC1H1):c.369C>T (p.Pro123=)
|
rs372944247
|
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_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)
|
rs146220233
|
0.00016
|
NM_001605.3(AARS1):c.2521-10T>C
|
rs199521984
|
0.00016
|
NM_001605.3(AARS1):c.480-8T>C
|
rs751472610
|
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_004990.4(MARS1):c.1369-7A>C
|
rs377050640
|
0.00016
|
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
|
rs200011880
|
0.00016
|
NM_004990.4(MARS1):c.414+9G>C
|
rs375026310
|
0.00016
|
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)
|
rs200334446
|
0.00016
|
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)
|
rs140532785
|
0.00016
|
NM_014874.4(MFN2):c.1463A>G (p.Asn488Ser)
|
rs147785658
|
0.00016
|
NM_014874.4(MFN2):c.2069+16G>A
|
rs376673392
|
0.00016
|
NM_015271.5(TRIM2):c.969C>T (p.Asn323=)
|
rs116365246
|
0.00016
|
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
|
rs144037310
|
0.00016
|
NM_020631.6(PLEKHG5):c.1302C>T (p.Pro434=)
|
rs755428930
|
0.00016
|
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr)
|
rs372143370
|
0.00016
|
NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=)
|
rs61738905
|
0.00016
|
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu)
|
rs143585428
|
0.00016
|
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)
|
rs142749412
|
0.00016
|
NM_021625.5(TRPV4):c.1658+15C>T
|
rs200083069
|
0.00016
|
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=)
|
rs369752162
|
0.00016
|
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)
|
rs201927283
|
0.00016
|
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser)
|
rs373539744
|
0.00016
|
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)
|
rs377518118
|
0.00016
|
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439
|
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_030962.4(SBF2):c.514-12C>T
|
rs770141264
|
0.00016
|
NM_030973.4(MED25):c.733G>C (p.Val245Leu)
|
rs771068558
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
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_181882.3(PRX):c.641C>G (p.Pro214Arg)
|
rs368874138
|
0.00016
|
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028
|
0.00015
|
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)
|
rs200981229
|
0.00015
|
NM_000263.4(NAGLU):c.288C>T (p.Phe96=)
|
rs755082293
|
0.00015
|
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192
|
0.00015
|
NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
|
rs147579870
|
0.00015
|
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114
|
0.00015
|
NM_001303256.3(MORC2):c.2194-17C>T
|
rs370934410
|
0.00015
|
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
|
rs1042426757
|
0.00015
|
NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)
|
rs375389310
|
0.00015
|
NM_001365951.3(KIF1B):c.429+7A>G
|
rs370895789
|
0.00015
|
NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly)
|
rs141237776
|
0.00015
|
NM_001376.5(DYNC1H1):c.13373-19C>G
|
rs371960630
|
0.00015
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961
|
0.00015
|
NM_002047.4(GARS1):c.1543G>A (p.Val515Met)
|
rs367589841
|
0.00015
|
NM_005391.5(PDK3):c.304C>T (p.Pro102Ser)
|
rs375475050
|
0.00015
|
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009
|
0.00015
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val)
|
rs370515061
|
0.00015
|
NM_020631.6(PLEKHG5):c.984+11G>A
|
rs369478125
|
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_022489.4(INF2):c.1736-6C>T
|
rs371991103
|
0.00015
|
NM_022489.4(INF2):c.2054T>C (p.Ile685Thr)
|
rs201203979
|
0.00015
|
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
|
rs533208785
|
0.00015
|
NM_024577.4(SH3TC2):c.831G>A (p.Thr277=)
|
rs750308484
|
0.00015
|
NM_030962.4(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939
|
0.00015
|
NM_030962.4(SBF2):c.2050C>G (p.Leu684Val)
|
rs146987383
|
0.00015
|
NM_030973.4(MED25):c.306-10del
|
rs772259172
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_181882.3(PRX):c.3588A>G (p.Gly1196=)
|
rs372745419
|
0.00015
|
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=)
|
rs139195906
|
0.00014
|
NM_001005361.3(DNM2):c.1423-12G>A
|
rs376753915
|
0.00014
|
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=)
|
rs200782592
|
0.00014
|
NM_001005361.3(DNM2):c.789G>A (p.Pro263=)
|
rs199976453
|
0.00014
|
NM_001005361.3(DNM2):c.822G>A (p.Thr274=)
|
rs201763720
|
0.00014
|
NM_001005361.3(DNM2):c.839C>T (p.Thr280Met)
|
rs202155679
|
0.00014
|
NM_001005373.4(LRSAM1):c.1088+1G>C
|
rs765641195
|
0.00014
|
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223
|
0.00014
|
NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg)
|
rs372408222
|
0.00014
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00014
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
|
rs190842600
|
0.00014
|
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=)
|
rs765411579
|
0.00014
|
NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=)
|
rs143112560
|
0.00014
|
NM_001365951.3(KIF1B):c.4526G>A (p.Arg1509His)
|
rs201477179
|
0.00014
|
NM_001365951.3(KIF1B):c.4946+10C>T
|
rs374982816
|
0.00014
|
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)
|
rs147969494
|
0.00014
|
NM_001376.5(DYNC1H1):c.10332C>T (p.Ile3444=)
|
rs145087182
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_001376.5(DYNC1H1):c.12834C>T (p.Phe4278=)
|
rs201126154
|
0.00014
|
NM_001376.5(DYNC1H1):c.1308C>T (p.Asp436=)
|
rs147531912
|
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_001605.3(AARS1):c.128A>G (p.Asn43Ser)
|
rs748803390
|
0.00014
|
NM_001605.3(AARS1):c.1938C>G (p.Thr646=)
|
rs147822575
|
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.1194G>A (p.Ala398=)
|
rs745534850
|
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_004990.4(MARS1):c.2415G>A (p.Leu805=)
|
rs374963162
|
0.00014
|
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser)
|
rs11540809
|
0.00014
|
NM_006096.4(NDRG1):c.1088G>A (p.Arg363His)
|
rs181121989
|
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_014845.6(FIG4):c.1348C>T (p.Arg450Cys)
|
rs201072058
|
0.00014
|
NM_014874.4(MFN2):c.1287+13G>C
|
rs543940912
|
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_015271.5(TRIM2):c.1296G>T (p.Leu432=)
|
rs1019168141
|
0.00014
|
NM_015271.5(TRIM2):c.461A>G (p.Glu154Gly)
|
rs959109286
|
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_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)
|
rs187886272
|
0.00014
|
NM_021625.5(TRPV4):c.732C>T (p.Ile244=)
|
rs142647385
|
0.00014
|
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys)
|
rs4983379
|
0.00014
|
NM_022489.4(INF2):c.306C>T (p.Val102=)
|
rs748335660
|
0.00014
|
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu)
|
rs376139171
|
0.00014
|
NM_022489.4(INF2):c.3684G>A (p.Arg1228=)
|
rs189263181
|
0.00014
|
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=)
|
rs150135768
|
0.00014
|
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004
|
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_030973.4(MED25):c.629C>T (p.Pro210Leu)
|
rs370423922
|
0.00014
|
NM_181882.3(PRX):c.1026A>C (p.Ala342=)
|
rs150772010
|
0.00014
|
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)
|
rs147441856
|
0.00014
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr)
|
rs144763522
|
0.00013
|
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)
|
rs371412466
|
0.00013
|
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)
|
rs149412531
|
0.00013
|
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
|
rs560948457
|
0.00013
|
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)
|
rs201500946
|
0.00013
|
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)
|
rs145969842
|
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_001376.5(DYNC1H1):c.12103-15C>T
|
rs373801313
|
0.00013
|
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met)
|
rs146087540
|
0.00013
|
NM_001376.5(DYNC1H1):c.8584G>A (p.Asp2862Asn)
|
rs139461837
|
0.00013
|
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu)
|
rs150873930
|
0.00013
|
NM_001605.3(AARS1):c.2287-16C>T
|
rs375747367
|
0.00013
|
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala)
|
rs370622071
|
0.00013
|
NM_001605.3(AARS1):c.480-17C>T
|
rs372467445
|
0.00013
|
NM_001605.3(AARS1):c.744A>G (p.Val248=)
|
rs752618189
|
0.00013
|
NM_002047.4(GARS1):c.428-13T>A
|
rs373782750
|
0.00013
|
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg)
|
rs146450269
|
0.00013
|
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
|
rs374632016
|
0.00013
|
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=)
|
rs1457468543
|
0.00013
|
NM_003680.4(YARS1):c.1002A>G (p.Lys334=)
|
rs551640148
|
0.00013
|
NM_003680.4(YARS1):c.1333A>G (p.Ile445Val)
|
rs76862302
|
0.00013
|
NM_003680.4(YARS1):c.906+9A>G
|
rs374356460
|
0.00013
|
NM_004990.4(MARS1):c.490+20C>T
|
rs78617675
|
0.00013
|
NM_005391.5(PDK3):c.36G>A (p.Val12=)
|
rs747337773
|
0.00013
|
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
|
rs191237702
|
0.00013
|
NM_006158.5(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_014874.4(MFN2):c.1476C>A (p.Thr492=)
|
rs143428548
|
0.00013
|
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val)
|
rs201921014
|
0.00013
|
NM_015271.5(TRIM2):c.927C>T (p.Asn309=)
|
rs142242737
|
0.00013
|
NM_020631.6(PLEKHG5):c.1681-8G>C
|
rs139041955
|
0.00013
|
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys)
|
rs760122001
|
0.00013
|
NM_020631.6(PLEKHG5):c.43+20G>T
|
rs200779049
|
0.00013
|
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe)
|
rs202066574
|
0.00013
|
NM_021625.5(TRPV4):c.386+10G>A
|
rs373979504
|
0.00013
|
NM_022489.4(INF2):c.1755G>A (p.Ala585=)
|
rs375573206
|
0.00013
|
NM_022489.4(INF2):c.966C>T (p.Ala322=)
|
rs774024906
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg)
|
rs187975909
|
0.00013
|
NM_024577.4(SH3TC2):c.836A>G (p.Tyr279Cys)
|
rs200215156
|
0.00013
|
NM_030962.4(SBF2):c.5010C>G (p.Asp1670Glu)
|
rs142672124
|
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.1786G>A (p.Val596Ile)
|
rs369707406
|
0.00013
|
NM_030973.4(MED25):c.305+17T>G
|
rs763308680
|
0.00013
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_181882.3(PRX):c.1387G>T (p.Val463Phe)
|
rs764004836
|
0.00013
|
NM_181882.3(PRX):c.4151C>T (p.Ala1384Val)
|
rs201618230
|
0.00013
|
NM_181882.3(PRX):c.794G>T (p.Gly265Val)
|
rs374837022
|
0.00013
|
NM_000263.4(NAGLU):c.282C>T (p.Arg94=)
|
rs866267579
|
0.00012
|
NM_001005361.3(DNM2):c.1422+9C>T
|
rs199952853
|
0.00012
|
NM_001005361.3(DNM2):c.2059-20T>G
|
rs765782246
|
0.00012
|
NM_001005361.3(DNM2):c.957C>T (p.Pro319=)
|
rs141911457
|
0.00012
|
NM_001303256.3(MORC2):c.2190C>T (p.Ser730=)
|
rs376896083
|
0.00012
|
NM_001303256.3(MORC2):c.2705G>C (p.Ser902Thr)
|
rs141633101
|
0.00012
|
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=)
|
rs147997704
|
0.00012
|
NM_001365951.3(KIF1B):c.1180+19G>A
|
rs200480069
|
0.00012
|
NM_001365951.3(KIF1B):c.1434+9T>C
|
rs770024434
|
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_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_001376.5(DYNC1H1):c.12333G>A (p.Lys4111=)
|
rs373520665
|
0.00012
|
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
|
rs140141126
|
0.00012
|
NM_001376.5(DYNC1H1):c.7071G>A (p.Ser2357=)
|
rs375808105
|
0.00012
|
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn)
|
rs780522040
|
0.00012
|
NM_001605.3(AARS1):c.1671+10C>T
|
rs184240527
|
0.00012
|
NM_001605.3(AARS1):c.2592C>T (p.Ser864=)
|
rs11537665
|
0.00012
|
NM_001605.3(AARS1):c.962+12G>C
|
rs376863001
|
0.00012
|
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln)
|
rs143766075
|
0.00012
|
NM_003680.4(YARS1):c.58-7A>T
|
rs376765281
|
0.00012
|
NM_003680.4(YARS1):c.63T>C (p.Val21=)
|
rs138749370
|
0.00012
|
NM_006096.4(NDRG1):c.280G>A (p.Val94Met)
|
rs747475972
|
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_014845.6(FIG4):c.1923G>A (p.Lys641=)
|
rs140078026
|
0.00012
|
NM_016156.6(MTMR2):c.33C>T (p.Gly11=)
|
rs777455436
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=)
|
rs373880458
|
0.00012
|
NM_020631.6(PLEKHG5):c.414C>T (p.Phe138=)
|
rs375075005
|
0.00012
|
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr)
|
rs746862312
|
0.00012
|
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
|
rs767748953
|
0.00012
|
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe)
|
rs545495465
|
0.00012
|
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr)
|
rs374684004
|
0.00012
|
NM_022489.4(INF2):c.744C>T (p.Phe248=)
|
rs372799744
|
0.00012
|
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser)
|
rs200819602
|
0.00012
|
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp)
|
rs146366305
|
0.00012
|
NM_030962.4(SBF2):c.2536+13C>A
|
rs369035547
|
0.00012
|
NM_170707.4(LMNA):c.811-12C>T
|
rs372962650
|
0.00012
|
NM_170707.4(LMNA):c.990G>A (p.Glu330=)
|
rs140800215
|
0.00012
|
NM_181882.3(PRX):c.2229C>T (p.Pro743=)
|
rs144975214
|
0.00012
|
NM_001005361.3(DNM2):c.1196+711A>T
|
rs186762327
|
0.00011
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001005361.3(DNM2):c.1659C>T (p.Tyr553=)
|
rs1399189951
|
0.00011
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00011
|
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459
|
0.00011
|
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg)
|
rs200595164
|
0.00011
|
NM_001005373.4(LRSAM1):c.1259+20T>C
|
rs527535011
|
0.00011
|
NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp)
|
rs376468970
|
0.00011
|
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897
|
0.00011
|
NM_001005373.4(LRSAM1):c.267C>T (p.His89=)
|
rs148528063
|
0.00011
|
NM_001005373.4(LRSAM1):c.585C>T (p.Ala195=)
|
rs144645671
|
0.00011
|
NM_001005373.4(LRSAM1):c.751-8C>G
|
rs367823841
|
0.00011
|
NM_001122955.4(BSCL2):c.1234+11T>A
|
rs369813738
|
0.00011
|
NM_001122955.4(BSCL2):c.1234+7G>A
|
rs200631909
|
0.00011
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001365951.3(KIF1B):c.1770C>T (p.Ser590=)
|
rs139764209
|
0.00011
|
NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg)
|
rs140015591
|
0.00011
|
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)
|
rs201915829
|
0.00011
|
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)
|
rs143251785
|
0.00011
|
NM_001376.5(DYNC1H1):c.11175C>T (p.Asp3725=)
|
rs376691723
|
0.00011
|
NM_001376.5(DYNC1H1):c.12939C>T (p.Pro4313=)
|
rs151172467
|
0.00011
|
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=)
|
rs372518648
|
0.00011
|
NM_001376.5(DYNC1H1):c.13192C>T (p.Leu4398Phe)
|
rs144570049
|
0.00011
|
NM_001376.5(DYNC1H1):c.13230C>T (p.Phe4410=)
|
rs374578144
|
0.00011
|
NM_001376.5(DYNC1H1):c.13667G>A (p.Cys4556Tyr)
|
rs142519155
|
0.00011
|
NM_001376.5(DYNC1H1):c.257-20A>G
|
rs201905359
|
0.00011
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=)
|
rs374440380
|
0.00011
|
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile)
|
rs376456164
|
0.00011
|
NM_001376.5(DYNC1H1):c.7263G>A (p.Thr2421=)
|
rs201651726
|
0.00011
|
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met)
|
rs376679623
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
|
rs1049324
|
0.00011
|
NM_001540.5(HSPB1):c.365-7C>G
|
rs201897299
|
0.00011
|
NM_001605.3(AARS1):c.1509G>A (p.Val503=)
|
rs138406510
|
0.00011
|
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)
|
rs201358272
|
0.00011
|
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)
|
rs369466037
|
0.00011
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
NM_002180.3(IGHMBP2):c.1060+10C>T
|
rs200170825
|
0.00011
|
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=)
|
rs145314949
|
0.00011
|
NM_002180.3(IGHMBP2):c.2612-14C>T
|
rs200940488
|
0.00011
|
NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys)
|
rs141955005
|
0.00011
|
NM_003680.4(YARS1):c.821-7C>T
|
rs372082251
|
0.00011
|
NM_004637.6(RAB7A):c.552C>T (p.Asn184=)
|
rs143140848
|
0.00011
|
NM_004637.6(RAB7A):c.603G>A (p.Ser201=)
|
rs61748098
|
0.00011
|
NM_004990.4(MARS1):c.110-10C>T
|
rs113549256
|
0.00011
|
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)
|
rs141340466
|
0.00011
|
NM_004990.4(MARS1):c.201-13T>C
|
rs201531908
|
0.00011
|
NM_006096.4(NDRG1):c.285C>T (p.Asp95=)
|
rs777855380
|
0.00011
|
NM_006096.4(NDRG1):c.660C>A (p.Asn220Lys)
|
rs143549909
|
0.00011
|
NM_006158.5(NEFL):c.579G>A (p.Met193Ile)
|
rs367943135
|
0.00011
|
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356
|
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_014874.4(MFN2):c.1199G>A (p.Arg400Gln)
|
rs138072432
|
0.00011
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_015271.5(TRIM2):c.653A>G (p.His218Arg)
|
rs952772847
|
0.00011
|
NM_016156.6(MTMR2):c.1303T>C (p.Leu435=)
|
rs767737380
|
0.00011
|
NM_016156.6(MTMR2):c.624A>G (p.Leu208=)
|
rs979063255
|
0.00011
|
NM_018972.4(GDAP1):c.594T>C (p.Asp198=)
|
rs565901784
|
0.00011
|
NM_018972.4(GDAP1):c.744C>T (p.Asp248=)
|
rs370099528
|
0.00011
|
NM_020631.6(PLEKHG5):c.1497G>A (p.Leu499=)
|
rs749662321
|
0.00011
|
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys)
|
rs201551894
|
0.00011
|
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)
|
rs148225182
|
0.00011
|
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=)
|
rs138301077
|
0.00011
|
NM_021629.4(GNB4):c.375C>T (p.Asn125=)
|
rs772099911
|
0.00011
|
NM_021629.4(GNB4):c.57+18C>T
|
rs372082625
|
0.00011
|
NM_021629.4(GNB4):c.916+9A>G
|
rs376068792
|
0.00011
|
NM_022489.4(INF2):c.1770C>T (p.Pro590=)
|
rs549506051
|
0.00011
|
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp)
|
rs138577569
|
0.00011
|
NM_022489.4(INF2):c.2053-16G>A
|
rs371712402
|
0.00011
|
NM_022489.4(INF2):c.2239+16C>T
|
rs370364755
|
0.00011
|
NM_022489.4(INF2):c.2367G>A (p.Thr789=)
|
rs368194536
|
0.00011
|
NM_022489.4(INF2):c.2766C>T (p.Arg922=)
|
rs201044782
|
0.00011
|
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)
|
rs374424323
|
0.00011
|
NM_022489.4(INF2):c.844-6G>A
|
rs370399987
|
0.00011
|
NM_024577.4(SH3TC2):c.1097C>G (p.Thr366Ser)
|
rs769250455
|
0.00011
|
NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=)
|
rs138967360
|
0.00011
|
NM_024577.4(SH3TC2):c.1853A>G (p.Tyr618Cys)
|
rs772780166
|
0.00011
|
NM_024577.4(SH3TC2):c.2286C>T (p.Ile762=)
|
rs766340169
|
0.00011
|
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=)
|
rs142904756
|
0.00011
|
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255
|
0.00011
|
NM_030973.4(MED25):c.1438C>G (p.Leu480Val)
|
rs148214958
|
0.00011
|
NM_030973.4(MED25):c.286A>G (p.Thr96Ala)
|
rs201460460
|
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_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)
|
rs374926367
|
0.00011
|
NM_181882.3(PRX):c.1129G>T (p.Val377Leu)
|
rs754081921
|
0.00011
|
NM_181882.3(PRX):c.2047G>A (p.Val683Met)
|
rs575075163
|
0.00011
|
NM_181882.3(PRX):c.2943G>A (p.Gly981=)
|
rs142228732
|
0.00011
|
NM_181882.3(PRX):c.3804C>T (p.Ala1268=)
|
rs553825184
|
0.00011
|
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)
|
rs199863083
|
0.00011
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
|
rs140945842
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_001005373.4(LRSAM1):c.1699-16C>T
|
rs201702419
|
0.00010
|
NM_001005373.4(LRSAM1):c.175-18G>A
|
rs752028583
|
0.00010
|
NM_001005373.4(LRSAM1):c.620-3C>T
|
rs373015900
|
0.00010
|
NM_001122955.4(BSCL2):c.1313C>T (p.Pro438Leu)
|
rs1473465067
|
0.00010
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)
|
rs200300686
|
0.00010
|
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys)
|
rs371713427
|
0.00010
|
NM_001303256.3(MORC2):c.840G>A (p.Thr280=)
|
rs150877402
|
0.00010
|
NM_001365951.3(KIF1B):c.3327C>A (p.Asn1109Lys)
|
rs199805720
|
0.00010
|
NM_001370298.3(FGD4):c.2029A>G (p.Ile677Val)
|
rs1230547567
|
0.00010
|
NM_001370298.3(FGD4):c.2123C>A (p.Pro708His)
|
rs145071617
|
0.00010
|
NM_001370298.3(FGD4):c.2220T>C (p.Asp740=)
|
rs1031324844
|
0.00010
|
NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=)
|
rs143642514
|
0.00010
|
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys)
|
rs142883042
|
0.00010
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990
|
0.00010
|
NM_001376.5(DYNC1H1):c.1461+17A>G
|
rs200674036
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=)
|
rs141665695
|
0.00010
|
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=)
|
rs200197781
|
0.00010
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328
|
0.00010
|
NM_001376.5(DYNC1H1):c.7940G>A (p.Gly2647Glu)
|
rs1370530780
|
0.00010
|
NM_001376.5(DYNC1H1):c.8145C>T (p.Pro2715=)
|
rs200413541
|
0.00010
|
NM_001376.5(DYNC1H1):c.8223C>T (p.Pro2741=)
|
rs149018711
|
0.00010
|
NM_001376.5(DYNC1H1):c.83C>T (p.Ser28Leu)
|
rs765882472
|
0.00010
|
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234
|
0.00010
|
NM_001605.3(AARS1):c.1410C>T (p.Ile470=)
|
rs79785372
|
0.00010
|
NM_001605.3(AARS1):c.1740C>T (p.Tyr580=)
|
rs777419181
|
0.00010
|
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser)
|
rs371595630
|
0.00010
|
NM_001605.3(AARS1):c.2730C>T (p.Ala910=)
|
rs199839663
|
0.00010
|
NM_001605.3(AARS1):c.333+3A>C
|
rs747431164
|
0.00010
|
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)
|
rs199997425
|
0.00010
|
NM_001605.3(AARS1):c.962+16A>G
|
rs768846274
|
0.00010
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730
|
0.00010
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520
|
0.00010
|
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=)
|
rs201485072
|
0.00010
|
NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu)
|
rs776775995
|
0.00010
|
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val)
|
rs375300165
|
0.00010
|
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=)
|
rs759627672
|
0.00010
|
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)
|
rs145631247
|
0.00010
|
NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=)
|
rs755792559
|
0.00010
|
NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp)
|
rs751421003
|
0.00010
|
NM_003680.4(YARS1):c.795G>C (p.Lys265Asn)
|
rs141482636
|
0.00010
|
NM_004990.4(MARS1):c.1360C>T (p.Leu454=)
|
rs139002397
|
0.00010
|
NM_005391.5(PDK3):c.282T>C (p.Tyr94=)
|
rs201198782
|
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_006096.4(NDRG1):c.874C>A (p.Leu292Ile)
|
rs745520295
|
0.00010
|
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
|
rs372245403
|
0.00010
|
NM_006158.5(NEFL):c.1560C>A (p.Thr520=)
|
rs267607677
|
0.00010
|
NM_014845.6(FIG4):c.102G>A (p.Thr34=)
|
rs145711919
|
0.00010
|
NM_014845.6(FIG4):c.2376+9G>A
|
rs374450869
|
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_015271.5(TRIM2):c.2085G>A (p.Gln695=)
|
rs141479735
|
0.00010
|
NM_015271.5(TRIM2):c.210C>T (p.Cys70=)
|
rs750120043
|
0.00010
|
NM_015271.5(TRIM2):c.444C>T (p.His148=)
|
rs771241708
|
0.00010
|
NM_015271.5(TRIM2):c.605+9C>A
|
rs532381432
|
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_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)
|
rs886048770
|
0.00010
|
NM_018972.4(GDAP1):c.72T>C (p.Val24=)
|
rs142674939
|
0.00010
|
NM_020631.6(PLEKHG5):c.1182C>T (p.His394=)
|
rs754889755
|
0.00010
|
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val)
|
rs778686532
|
0.00010
|
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=)
|
rs184541137
|
0.00010
|
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln)
|
rs376237905
|
0.00010
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00010
|
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp)
|
rs1166010216
|
0.00010
|
NM_022489.4(INF2):c.1428A>G (p.Leu476=)
|
rs765740200
|
0.00010
|
NM_022489.4(INF2):c.1458C>T (p.Phe486=)
|
rs1420347614
|
0.00010
|
NM_022489.4(INF2):c.2202G>A (p.Val734=)
|
rs376146089
|
0.00010
|
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315
|
0.00010
|
NM_022489.4(INF2):c.3040+11C>T
|
rs374390500
|
0.00010
|
NM_022489.4(INF2):c.474C>T (p.His158=)
|
rs141172921
|
0.00010
|
NM_022489.4(INF2):c.67T>A (p.Ser23Thr)
|
rs746964937
|
0.00010
|
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His)
|
rs551803988
|
0.00010
|
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069
|
0.00010
|
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp)
|
rs200006756
|
0.00010
|
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys)
|
rs147895061
|
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.2474A>G (p.Lys825Arg)
|
rs753921188
|
0.00010
|
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)
|
rs201964421
|
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_030973.4(MED25):c.2181G>A (p.Pro727=)
|
rs775431728
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_181882.3(PRX):c.16C>G (p.Arg6Gly)
|
rs759056060
|
0.00010
|
NM_181882.3(PRX):c.1836C>T (p.Ala612=)
|
rs574899855
|
0.00010
|
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)
|
rs761277865
|
0.00010
|
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)
|
rs764162630
|
0.00010
|
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)
|
rs763294661
|
0.00010
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)
|
rs202115696
|
0.00009
|
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr)
|
rs930823153
|
0.00009
|
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)
|
rs138324133
|
0.00009
|
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn)
|
rs145452809
|
0.00009
|
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)
|
rs777479452
|
0.00009
|
NM_001005361.3(DNM2):c.1196+18A>G
|
rs375880464
|
0.00009
|
NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His)
|
rs370459176
|
0.00009
|
NM_001005361.3(DNM2):c.2253T>C (p.Pro751=)
|
rs200155565
|
0.00009
|
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138
|
0.00009
|
NM_001005361.3(DNM2):c.2425A>G (p.Ile809Val)
|
rs144133111
|
0.00009
|
NM_001005361.3(DNM2):c.2543+6G>T
|
rs531145240
|
0.00009
|
NM_001005361.3(DNM2):c.315C>T (p.Thr105=)
|
rs111837150
|
0.00009
|
NM_001005361.3(DNM2):c.555C>T (p.Asp185=)
|
rs140788791
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)
|
rs373570877
|
0.00009
|
NM_001005373.4(LRSAM1):c.1348-1G>A
|
rs747659617
|
0.00009
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=)
|
rs199997686
|
0.00009
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
NM_001005373.4(LRSAM1):c.1830+20A>G
|
rs199932024
|
0.00009
|
NM_001005373.4(LRSAM1):c.1912+13C>T
|
rs201671353
|
0.00009
|
NM_001005373.4(LRSAM1):c.2046+16T>C
|
rs753575542
|
0.00009
|
NM_001005373.4(LRSAM1):c.253-20C>T
|
rs764243243
|
0.00009
|
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=)
|
rs147205387
|
0.00009
|
NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu)
|
rs138830549
|
0.00009
|
NM_001005373.4(LRSAM1):c.993G>A (p.Thr331=)
|
rs368674859
|
0.00009
|
NM_001136472.2(LITAF):c.448A>C (p.Asn150His)
|
rs764014476
|
0.00009
|
NM_001303256.3(MORC2):c.1935T>G (p.Pro645=)
|
rs978305589
|
0.00009
|
NM_001303256.3(MORC2):c.3081C>T (p.Leu1027=)
|
rs149110760
|
0.00009
|
NM_001303256.3(MORC2):c.399G>A (p.Thr133=)
|
rs141171446
|
0.00009
|
NM_001303256.3(MORC2):c.405T>C (p.His135=)
|
rs144582460
|
0.00009
|
NM_001303256.3(MORC2):c.717G>A (p.Ser239=)
|
rs375469737
|
0.00009
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_001365951.3(KIF1B):c.1716C>T (p.Ser572=)
|
rs369473758
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)
|
rs374098797
|
0.00009
|
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)
|
rs146436697
|
0.00009
|
NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)
|
rs538135467
|
0.00009
|
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)
|
rs373698346
|
0.00009
|
NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser)
|
rs555510533
|
0.00009
|
NM_001370298.3(FGD4):c.1543+13T>C
|
rs762177862
|
0.00009
|
NM_001370298.3(FGD4):c.2517C>T (p.Ser839=)
|
rs777555137
|
0.00009
|
NM_001376.5(DYNC1H1):c.11460+18_11460+57del
|
rs768638049
|
0.00009
|
NM_001376.5(DYNC1H1):c.11691-4G>T
|
rs201810550
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+9G>A
|
rs374678076
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_001376.5(DYNC1H1):c.2539-6C>T
|
rs535465221
|
0.00009
|
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194
|
0.00009
|
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=)
|
rs374033335
|
0.00009
|
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873
|
0.00009
|
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=)
|
rs147905977
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=)
|
rs201720217
|
0.00009
|
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=)
|
rs202023896
|
0.00009
|
NM_001605.3(AARS1):c.2182C>T (p.Leu728=)
|
rs761565869
|
0.00009
|
NM_001605.3(AARS1):c.2401-16C>T
|
rs372138128
|
0.00009
|
NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala)
|
rs766897796
|
0.00009
|
NM_001605.3(AARS1):c.525C>T (p.Phe175=)
|
rs369147317
|
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_002047.4(GARS1):c.700G>A (p.Glu234Lys)
|
rs373326652
|
0.00009
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
NM_002180.3(IGHMBP2):c.2612-13G>A
|
rs369494910
|
0.00009
|
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=)
|
rs779293148
|
0.00009
|
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln)
|
rs199863781
|
0.00009
|
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr)
|
rs536962342
|
0.00009
|
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val)
|
rs779639460
|
0.00009
|
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His)
|
rs756408576
|
0.00009
|
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn)
|
rs139635469
|
0.00009
|
NM_003680.4(YARS1):c.347A>T (p.Lys116Met)
|
rs148823175
|
0.00009
|
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
|
rs772759631
|
0.00009
|
NM_004990.4(MARS1):c.1049C>T (p.Ser350Leu)
|
rs147637407
|
0.00009
|
NM_004990.4(MARS1):c.1181G>A (p.Arg394His)
|
rs769544594
|
0.00009
|
NM_004990.4(MARS1):c.2672C>T (p.Pro891Leu)
|
rs148245567
|
0.00009
|
NM_004990.4(MARS1):c.298C>G (p.Leu100Val)
|
rs200701235
|
0.00009
|
NM_005391.5(PDK3):c.336G>C (p.Leu112=)
|
rs372442017
|
0.00009
|
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr)
|
rs146331370
|
0.00009
|
NM_005391.5(PDK3):c.562G>A (p.Asp188Asn)
|
rs1165981822
|
0.00009
|
NM_005391.5(PDK3):c.751-10A>G
|
rs372774822
|
0.00009
|
NM_006096.4(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala)
|
rs878854979
|
0.00009
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_014845.6(FIG4):c.2459+7T>G
|
rs575271308
|
0.00009
|
NM_014845.6(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249
|
0.00009
|
NM_014845.6(FIG4):c.717A>G (p.Lys239=)
|
rs750904354
|
0.00009
|
NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp)
|
rs777353788
|
0.00009
|
NM_015271.5(TRIM2):c.1143C>T (p.Asp381=)
|
rs116472166
|
0.00009
|
NM_015271.5(TRIM2):c.1161C>T (p.Thr387=)
|
rs144994337
|
0.00009
|
NM_015271.5(TRIM2):c.220C>T (p.Leu74=)
|
rs12644835
|
0.00009
|
NM_015271.5(TRIM2):c.570C>G (p.Ala190=)
|
rs371385083
|
0.00009
|
NM_015271.5(TRIM2):c.894A>G (p.Leu298=)
|
rs756661652
|
0.00009
|
NM_016156.6(MTMR2):c.263-3C>T
|
rs553551578
|
0.00009
|
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=)
|
rs372937811
|
0.00009
|
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr)
|
rs375536495
|
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_020631.6(PLEKHG5):c.1393-10C>A
|
rs768925221
|
0.00009
|
NM_020631.6(PLEKHG5):c.1934-16G>A
|
rs201675267
|
0.00009
|
NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp)
|
rs189468475
|
0.00009
|
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met)
|
rs111724922
|
0.00009
|
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu)
|
rs369440409
|
0.00009
|
NM_020631.6(PLEKHG5):c.2967C>T (p.Tyr989=)
|
rs773618556
|
0.00009
|
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)
|
rs142378760
|
0.00009
|
NM_021625.5(TRPV4):c.1491+8C>T
|
rs752455441
|
0.00009
|
NM_021625.5(TRPV4):c.1891+17C>T
|
rs376766007
|
0.00009
|
NM_021625.5(TRPV4):c.2514G>A (p.Pro838=)
|
rs576688961
|
0.00009
|
NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)
|
rs756526036
|
0.00009
|
NM_022489.4(INF2):c.1197C>T (p.His399=)
|
rs746493706
|
0.00009
|
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu)
|
rs561201601
|
0.00009
|
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp)
|
rs376451593
|
0.00009
|
NM_022489.4(INF2):c.1806C>T (p.Ile602=)
|
rs760506368
|
0.00009
|
NM_022489.4(INF2):c.2053-13C>T
|
rs753775095
|
0.00009
|
NM_022489.4(INF2):c.2622G>A (p.Ser874=)
|
rs374311535
|
0.00009
|
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile)
|
rs371946522
|
0.00009
|
NM_022489.4(INF2):c.354C>T (p.Ile118=)
|
rs771038193
|
0.00009
|
NM_022489.4(INF2):c.3654C>T (p.Thr1218=)
|
rs557462297
|
0.00009
|
NM_022489.4(INF2):c.3694+20C>T
|
rs769373012
|
0.00009
|
NM_022489.4(INF2):c.3744C>T (p.Ile1248=)
|
rs765432583
|
0.00009
|
NM_022489.4(INF2):c.798C>G (p.Val266=)
|
rs375005967
|
0.00009
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
NM_024577.4(SH3TC2):c.1861C>T (p.Arg621Cys)
|
rs201403149
|
0.00009
|
NM_024577.4(SH3TC2):c.197T>C (p.Val66Ala)
|
rs1485527369
|
0.00009
|
NM_024577.4(SH3TC2):c.2310C>T (p.His770=)
|
rs142462049
|
0.00009
|
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln)
|
rs947749200
|
0.00009
|
NM_024577.4(SH3TC2):c.280-5C>T
|
rs201937366
|
0.00009
|
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe)
|
rs201805333
|
0.00009
|
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=)
|
rs1030348232
|
0.00009
|
NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln)
|
rs142774907
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_030962.4(SBF2):c.1296+13T>C
|
rs376685939
|
0.00009
|
NM_030962.4(SBF2):c.1907C>A (p.Pro636His)
|
rs544091616
|
0.00009
|
NM_030962.4(SBF2):c.2085G>A (p.Pro695=)
|
rs148241076
|
0.00009
|
NM_030962.4(SBF2):c.280-5T>C
|
rs368118378
|
0.00009
|
NM_030962.4(SBF2):c.3111-9G>A
|
rs200045139
|
0.00009
|
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val)
|
rs368839717
|
0.00009
|
NM_030962.4(SBF2):c.4614A>G (p.Gly1538=)
|
rs750092509
|
0.00009
|
NM_030962.4(SBF2):c.5037+12A>G
|
rs372500490
|
0.00009
|
NM_030962.4(SBF2):c.5038-14C>T
|
rs200268388
|
0.00009
|
NM_030962.4(SBF2):c.5484C>T (p.Cys1828=)
|
rs149571145
|
0.00009
|
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=)
|
rs376788960
|
0.00009
|
NM_030973.4(MED25):c.1055C>T (p.Pro352Leu)
|
rs764267049
|
0.00009
|
NM_030973.4(MED25):c.181-13C>T
|
rs377070498
|
0.00009
|
NM_030973.4(MED25):c.1906C>A (p.Arg636=)
|
rs761434818
|
0.00009
|
NM_030973.4(MED25):c.819+15G>A
|
rs772300740
|
0.00009
|
NM_030973.4(MED25):c.942C>T (p.Pro314=)
|
rs373971747
|
0.00009
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
NM_170707.4(LMNA):c.150C>T (p.Arg50=)
|
rs397517894
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_181882.3(PRX):c.1091G>A (p.Arg364Gln)
|
rs561482109
|
0.00009
|
NM_181882.3(PRX):c.2265G>A (p.Leu755=)
|
rs370753668
|
0.00009
|
NM_181882.3(PRX):c.2463C>T (p.Gly821=)
|
rs368481955
|
0.00009
|
NM_181882.3(PRX):c.3346G>T (p.Val1116Leu)
|
rs148075077
|
0.00009
|
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
|
rs140880177
|
0.00009
|
NM_181882.3(PRX):c.3891G>A (p.Glu1297=)
|
rs775809057
|
0.00009
|
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp)
|
rs753339248
|
0.00009
|
NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys)
|
rs768524850
|
0.00009
|
NM_181882.3(PRX):c.862G>A (p.Val288Met)
|
rs568618329
|
0.00009
|
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
|
rs369789056
|
0.00008
|
NM_000263.4(NAGLU):c.873C>T (p.Ile291=)
|
rs146734024
|
0.00008
|
NM_001005361.3(DNM2):c.1196+652C>T
|
rs377319162
|
0.00008
|
NM_001005361.3(DNM2):c.666C>T (p.Asn222=)
|
rs2229921
|
0.00008
|
NM_001005361.3(DNM2):c.876G>A (p.Ser292=)
|
rs749140605
|
0.00008
|
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys)
|
rs150882646
|
0.00008
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454
|
0.00008
|
NM_001136472.2(LITAF):c.27G>A (p.Ala9=)
|
rs149518815
|
0.00008
|
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=)
|
rs754338828
|
0.00008
|
NM_001303256.3(MORC2):c.3066C>G (p.Ala1022=)
|
rs146032580
|
0.00008
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_001365951.3(KIF1B):c.3043+7G>A
|
rs759344545
|
0.00008
|
NM_001370298.3(FGD4):c.1953+20C>T
|
rs773153085
|
0.00008
|
NM_001370298.3(FGD4):c.603A>G (p.Gln201=)
|
rs771558628
|
0.00008
|
NM_001376.5(DYNC1H1):c.10627-15G>A
|
rs767876392
|
0.00008
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706
|
0.00008
|
NM_001376.5(DYNC1H1):c.12102+20C>T
|
rs200362531
|
0.00008
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=)
|
rs17541692
|
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_001376.5(DYNC1H1):c.7015-14T>C
|
rs753878203
|
0.00008
|
NM_001376.5(DYNC1H1):c.8199C>T (p.Val2733=)
|
rs770775119
|
0.00008
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
NM_001540.5(HSPB1):c.428+13G>T
|
rs553117142
|
0.00008
|
NM_001605.3(AARS1):c.1222+7A>T
|
rs200591546
|
0.00008
|
NM_001605.3(AARS1):c.1222+7_1222+8insTTGC
|
rs372280293
|
0.00008
|
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr)
|
rs141486562
|
0.00008
|
NM_001605.3(AARS1):c.1722A>G (p.Leu574=)
|
rs140678149
|
0.00008
|
NM_001605.3(AARS1):c.2105C>T (p.Pro702Leu)
|
rs776471315
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002047.4(GARS1):c.882-15T>G
|
rs199741850
|
0.00008
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_002180.3(IGHMBP2):c.1236-10C>T
|
rs778515935
|
0.00008
|
NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=)
|
rs773180915
|
0.00008
|
NM_002180.3(IGHMBP2):c.1633-14G>A
|
rs368126775
|
0.00008
|
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp)
|
rs146409569
|
0.00008
|
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr)
|
rs139871647
|
0.00008
|
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=)
|
rs146286133
|
0.00008
|
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=)
|
rs779753312
|
0.00008
|
NM_002180.3(IGHMBP2):c.548-20C>T
|
rs368802434
|
0.00008
|
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)
|
rs200566598
|
0.00008
|
NM_004990.4(MARS1):c.1000G>A (p.Asp334Asn)
|
rs760487210
|
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_006096.4(NDRG1):c.1051C>T (p.Arg351Ter)
|
rs765621411
|
0.00008
|
NM_006096.4(NDRG1):c.1059C>T (p.Arg353=)
|
rs527561085
|
0.00008
|
NM_006158.5(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413
|
0.00008
|
NM_014365.3(HSPB8):c.391G>A (p.Glu131Lys)
|
rs754993844
|
0.00008
|
NM_014845.6(FIG4):c.101C>T (p.Thr34Met)
|
rs375691683
|
0.00008
|
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys)
|
rs143184413
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_014845.6(FIG4):c.272C>T (p.Ser91Leu)
|
rs753543659
|
0.00008
|
NM_014845.6(FIG4):c.918C>T (p.Cys306=)
|
rs369159531
|
0.00008
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
NM_014874.4(MFN2):c.857T>C (p.Val286Ala)
|
rs765825496
|
0.00008
|
NM_015271.5(TRIM2):c.497G>A (p.Arg166Gln)
|
rs146252965
|
0.00008
|
NM_015271.5(TRIM2):c.757T>C (p.Leu253=)
|
rs748899501
|
0.00008
|
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr)
|
rs370701984
|
0.00008
|
NM_016156.6(MTMR2):c.993+9G>C
|
rs201595704
|
0.00008
|
NM_020631.6(PLEKHG5):c.1393-5C>T
|
rs780578894
|
0.00008
|
NM_020631.6(PLEKHG5):c.186G>A (p.Lys62=)
|
rs372405586
|
0.00008
|
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=)
|
rs369876443
|
0.00008
|
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln)
|
rs761000380
|
0.00008
|
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889
|
0.00008
|
NM_021625.5(TRPV4):c.2307C>T (p.Asp769=)
|
rs200372627
|
0.00008
|
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln)
|
rs138187021
|
0.00008
|
NM_021629.4(GNB4):c.885T>C (p.Asn295=)
|
rs550870195
|
0.00008
|
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
|
rs760721935
|
0.00008
|
NM_022489.4(INF2):c.668-12G>A
|
rs367924307
|
0.00008
|
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)
|
rs569974719
|
0.00008
|
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs146364285
|
0.00008
|
NM_024577.4(SH3TC2):c.1725G>T (p.Leu575Phe)
|
rs376266262
|
0.00008
|
NM_024577.4(SH3TC2):c.53-6C>T
|
rs760274954
|
0.00008
|
NM_030962.4(SBF2):c.2070A>G (p.Glu690=)
|
rs201247796
|
0.00008
|
NM_030962.4(SBF2):c.4512T>C (p.Tyr1504=)
|
rs772156530
|
0.00008
|
NM_030962.4(SBF2):c.5231+14C>T
|
rs371184526
|
0.00008
|
NM_030962.4(SBF2):c.774C>A (p.Leu258=)
|
rs887509504
|
0.00008
|
NM_030962.4(SBF2):c.783G>T (p.Gln261His)
|
rs759932929
|
0.00008
|
NM_030962.4(SBF2):c.946C>T (p.Leu316=)
|
rs374841593
|
0.00008
|
NM_030973.4(MED25):c.1801G>A (p.Ala601Thr)
|
rs767338688
|
0.00008
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)
|
rs142064826
|
0.00008
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_181882.3(PRX):c.1646C>T (p.Pro549Leu)
|
rs150582069
|
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.553C>T (p.Arg185Cys)
|
rs376863946
|
0.00008
|
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
|
rs780147663
|
0.00008
|
NM_181882.3(PRX):c.69G>A (p.Thr23=)
|
rs142535919
|
0.00008
|
NM_181882.3(PRX):c.762C>A (p.Pro254=)
|
rs546448969
|
0.00008
|
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=)
|
rs760335984
|
0.00007
|
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr)
|
rs752264680
|
0.00007
|
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296
|
0.00007
|
NM_001005361.3(DNM2):c.1671+13C>T
|
rs374047080
|
0.00007
|
NM_001005361.3(DNM2):c.234A>G (p.Thr78=)
|
rs747545894
|
0.00007
|
NM_001005373.4(LRSAM1):c.1830+14G>A
|
rs768288133
|
0.00007
|
NM_001005373.4(LRSAM1):c.339G>A (p.Arg113=)
|
rs146613642
|
0.00007
|
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr)
|
rs141377075
|
0.00007
|
NM_001303256.3(MORC2):c.2702_2704dup (p.Leu901_Ser902insMet)
|
rs779496791
|
0.00007
|
NM_001365951.3(KIF1B):c.1557T>C (p.Asp519=)
|
rs146364486
|
0.00007
|
NM_001365951.3(KIF1B):c.405T>C (p.Asn135=)
|
rs201229642
|
0.00007
|
NM_001365951.3(KIF1B):c.4171C>T (p.Leu1391=)
|
rs1035373795
|
0.00007
|
NM_001365951.3(KIF1B):c.5409-15G>A
|
rs371830018
|
0.00007
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128
|
0.00007
|
NM_001376.5(DYNC1H1):c.11690+16C>G
|
rs763785003
|
0.00007
|
NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=)
|
rs763236829
|
0.00007
|
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=)
|
rs202008601
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001376.5(DYNC1H1):c.3046G>C (p.Glu1016Gln)
|
rs756929342
|
0.00007
|
NM_001376.5(DYNC1H1):c.3334-4T>C
|
rs368422942
|
0.00007
|
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg)
|
rs867503066
|
0.00007
|
NM_001376.5(DYNC1H1):c.3804+14G>A
|
rs748738577
|
0.00007
|
NM_001376.5(DYNC1H1):c.3804+9C>T
|
rs377635872
|
0.00007
|
NM_001376.5(DYNC1H1):c.519-18T>C
|
rs375656421
|
0.00007
|
NM_001376.5(DYNC1H1):c.6846C>T (p.His2282=)
|
rs770017263
|
0.00007
|
NM_001376.5(DYNC1H1):c.8988A>G (p.Glu2996=)
|
rs149327058
|
0.00007
|
NM_001376.5(DYNC1H1):c.9884-12G>T
|
rs530511763
|
0.00007
|
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
rs140791936
|
0.00007
|
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)
|
rs529095936
|
0.00007
|
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe)
|
rs527414180
|
0.00007
|
NM_001605.3(AARS1):c.1140G>A (p.Val380=)
|
rs149055899
|
0.00007
|
NM_001605.3(AARS1):c.1671+7C>T
|
rs747794570
|
0.00007
|
NM_001605.3(AARS1):c.1689G>A (p.Val563=)
|
rs536370318
|
0.00007
|
NM_001605.3(AARS1):c.2286+18G>A
|
rs780996918
|
0.00007
|
NM_001605.3(AARS1):c.58A>G (p.Arg20Gly)
|
rs770697148
|
0.00007
|
NM_001605.3(AARS1):c.622G>A (p.Asp208Asn)
|
rs780893599
|
0.00007
|
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys)
|
rs138490305
|
0.00007
|
NM_002047.4(GARS1):c.1149C>T (p.Ser383=)
|
rs369389062
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn)
|
rs200007067
|
0.00007
|
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile)
|
rs199614709
|
0.00007
|
NM_003680.4(YARS1):c.1275C>T (p.Asn425=)
|
rs778718842
|
0.00007
|
NM_004637.6(RAB7A):c.213G>A (p.Gln71=)
|
rs140299645
|
0.00007
|
NM_004990.4(MARS1):c.238C>T (p.Leu80Phe)
|
rs190598622
|
0.00007
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970
|
0.00007
|
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys)
|
rs142426003
|
0.00007
|
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)
|
rs202118022
|
0.00007
|
NM_006096.4(NDRG1):c.431A>G (p.Tyr144Cys)
|
rs139220402
|
0.00007
|
NM_006096.4(NDRG1):c.720G>A (p.Glu240=)
|
rs1400704810
|
0.00007
|
NM_006158.5(NEFL):c.1458C>T (p.Ala486=)
|
rs61726486
|
0.00007
|
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)
|
rs750697495
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
|
rs146689226
|
0.00007
|
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=)
|
rs765557108
|
0.00007
|
NM_014845.6(FIG4):c.498-13A>G
|
rs199891240
|
0.00007
|
NM_014845.6(FIG4):c.66+13dup
|
rs755637236
|
0.00007
|
NM_014874.4(MFN2):c.1617A>G (p.Glu539=)
|
rs556515947
|
0.00007
|
NM_014874.4(MFN2):c.175+14G>A
|
rs202139103
|
0.00007
|
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)
|
rs755608041
|
0.00007
|
NM_014874.4(MFN2):c.475-17C>A
|
rs759684850
|
0.00007
|
NM_016156.6(MTMR2):c.1861C>T (p.Arg621Ter)
|
rs753364428
|
0.00007
|
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe)
|
rs587779385
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg)
|
rs202010117
|
0.00007
|
NM_020631.6(PLEKHG5):c.1510G>A (p.Glu504Lys)
|
rs552364487
|
0.00007
|
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys)
|
rs144245744
|
0.00007
|
NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser)
|
rs145073653
|
0.00007
|
NM_020631.6(PLEKHG5):c.2598G>A (p.Leu866=)
|
rs368328495
|
0.00007
|
NM_020631.6(PLEKHG5):c.439+12C>G
|
rs778853521
|
0.00007
|
NM_020631.6(PLEKHG5):c.541G>A (p.Ala181Thr)
|
rs527341275
|
0.00007
|
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn)
|
rs765882140
|
0.00007
|
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)
|
rs756185743
|
0.00007
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932
|
0.00007
|
NM_021625.5(TRPV4):c.387-9C>T
|
rs552614584
|
0.00007
|
NM_021625.5(TRPV4):c.655C>T (p.Arg219Cys)
|
rs754023659
|
0.00007
|
NM_022489.4(INF2):c.*1+1G>C
|
rs758452999
|
0.00007
|
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
|
rs777455096
|
0.00007
|
NM_022489.4(INF2):c.1377G>A (p.Pro459=)
|
rs776870726
|
0.00007
|
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
rs369984449
|
0.00007
|
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys)
|
rs569586169
|
0.00007
|
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)
|
rs369987125
|
0.00007
|
NM_022489.4(INF2):c.507+19G>A
|
rs771875521
|
0.00007
|
NM_022489.4(INF2):c.597C>T (p.Ser199=)
|
rs372269719
|
0.00007
|
NM_022489.4(INF2):c.684C>T (p.Asp228=)
|
rs555087041
|
0.00007
|
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
|
rs78346510
|
0.00007
|
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His)
|
rs372839905
|
0.00007
|
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804
|
0.00007
|
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln)
|
rs775059182
|
0.00007
|
NM_030962.4(SBF2):c.1499G>A (p.Arg500Gln)
|
rs759084094
|
0.00007
|
NM_030962.4(SBF2):c.2014A>G (p.Thr672Ala)
|
rs770839510
|
0.00007
|
NM_030962.4(SBF2):c.2436C>T (p.Ala812=)
|
rs374225152
|
0.00007
|
NM_030962.4(SBF2):c.3410A>G (p.Tyr1137Cys)
|
rs370742916
|
0.00007
|
NM_030962.4(SBF2):c.3455+9G>A
|
rs372886234
|
0.00007
|
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala)
|
rs761285334
|
0.00007
|
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln)
|
rs757836523
|
0.00007
|
NM_030962.4(SBF2):c.4257+6C>G
|
rs370274486
|
0.00007
|
NM_030962.4(SBF2):c.5074T>C (p.Ser1692Pro)
|
rs776642521
|
0.00007
|
NM_030973.4(MED25):c.1101+4G>A
|
rs746210338
|
0.00007
|
NM_030973.4(MED25):c.1227A>G (p.Gln409=)
|
rs769851706
|
0.00007
|
NM_030973.4(MED25):c.1756C>T (p.Arg586Cys)
|
rs752175666
|
0.00007
|
NM_030973.4(MED25):c.2146+12C>T
|
rs778556242
|
0.00007
|
NM_030973.4(MED25):c.570G>C (p.Ala190=)
|
rs759800230
|
0.00007
|
NM_030973.4(MED25):c.825C>T (p.Pro275=)
|
rs771874021
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_170707.4(LMNA):c.1488+7G>A
|
rs374209100
|
0.00007
|
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)
|
rs138098342
|
0.00007
|
NM_170707.4(LMNA):c.811-18C>G
|
rs766309567
|
0.00007
|
NM_181882.3(PRX):c.102A>C (p.Val34=)
|
rs761347226
|
0.00007
|
NM_181882.3(PRX):c.1040G>A (p.Arg347Gln)
|
rs141288626
|
0.00007
|
NM_181882.3(PRX):c.2036G>A (p.Arg679Gln)
|
rs145856805
|
0.00007
|
NM_181882.3(PRX):c.27+8C>A
|
rs769214562
|
0.00007
|
NM_181882.3(PRX):c.3037G>A (p.Asp1013Asn)
|
rs548086012
|
0.00007
|
NM_181882.3(PRX):c.3385T>C (p.Ser1129Pro)
|
rs139125398
|
0.00007
|
NM_181882.3(PRX):c.922A>G (p.Thr308Ala)
|
rs753330520
|
0.00007
|
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys)
|
rs553293896
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=)
|
rs202033889
|
0.00006
|
NM_000263.4(NAGLU):c.627C>G (p.Thr209=)
|
rs200496310
|
0.00006
|
NM_001005361.3(DNM2):c.1196+628G>C
|
rs374376619
|
0.00006
|
NM_001005361.3(DNM2):c.1196+778G>C
|
rs763908447
|
0.00006
|
NM_001005361.3(DNM2):c.1437C>T (p.Ile479=)
|
rs146506201
|
0.00006
|
NM_001005361.3(DNM2):c.1449G>A (p.Gln483=)
|
rs750299400
|
0.00006
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103
|
0.00006
|
NM_001005361.3(DNM2):c.1782-4G>A
|
rs767424969
|
0.00006
|
NM_001005361.3(DNM2):c.1893+10C>T
|
rs147321173
|
0.00006
|
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr)
|
rs752473055
|
0.00006
|
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)
|
rs554971107
|
0.00006
|
NM_001005361.3(DNM2):c.213G>A (p.Leu71=)
|
rs375324714
|
0.00006
|
NM_001005361.3(DNM2):c.2151G>A (p.Gln717=)
|
rs543921898
|
0.00006
|
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224
|
0.00006
|
NM_001005361.3(DNM2):c.312G>A (p.Glu104=)
|
rs144970326
|
0.00006
|
NM_001005361.3(DNM2):c.385+14G>T
|
rs768651962
|
0.00006
|
NM_001005361.3(DNM2):c.450A>G (p.Pro150=)
|
rs766121627
|
0.00006
|
NM_001005361.3(DNM2):c.535A>G (p.Met179Val)
|
rs748887276
|
0.00006
|
NM_001005361.3(DNM2):c.543G>A (p.Leu181=)
|
rs374823728
|
0.00006
|
NM_001005361.3(DNM2):c.601A>G (p.Ile201Val)
|
rs969140793
|
0.00006
|
NM_001005361.3(DNM2):c.90C>T (p.Asp30=)
|
rs759919549
|
0.00006
|
NM_001005373.4(LRSAM1):c.103G>A (p.Asp35Asn)
|
rs551183702
|
0.00006
|
NM_001005373.4(LRSAM1):c.1067T>C (p.Leu356Ser)
|
rs142958539
|
0.00006
|
NM_001005373.4(LRSAM1):c.1074G>A (p.Ser358=)
|
rs776894109
|
0.00006
|
NM_001005373.4(LRSAM1):c.1347+20C>T
|
rs766326390
|
0.00006
|
NM_001005373.4(LRSAM1):c.1422+6C>T
|
rs745690669
|
0.00006
|
NM_001005373.4(LRSAM1):c.1504-4G>A
|
rs370872133
|
0.00006
|
NM_001005373.4(LRSAM1):c.175-19C>T
|
rs758774140
|
0.00006
|
NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met)
|
rs773505699
|
0.00006
|
NM_001005373.4(LRSAM1):c.1980G>A (p.Arg660=)
|
rs147805183
|
0.00006
|
NM_001005373.4(LRSAM1):c.2028C>T (p.Val676=)
|
rs566890772
|
0.00006
|
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met)
|
rs555377969
|
0.00006
|
NM_001005373.4(LRSAM1):c.913C>T (p.Arg305Trp)
|
rs376566243
|
0.00006
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=)
|
rs144774892
|
0.00006
|
NM_001136472.2(LITAF):c.147G>A (p.Thr49=)
|
rs145659732
|
0.00006
|
NM_001136472.2(LITAF):c.197C>T (p.Ala66Val)
|
rs140714668
|
0.00006
|
NM_001136472.2(LITAF):c.310G>A (p.Val104Met)
|
rs373445989
|
0.00006
|
NM_001136472.2(LITAF):c.45A>G (p.Ser15=)
|
rs112192052
|
0.00006
|
NM_001136472.2(LITAF):c.54C>T (p.Ser18=)
|
rs150211233
|
0.00006
|
NM_001303256.3(MORC2):c.2193+8G>A
|
rs771703018
|
0.00006
|
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)
|
rs186049675
|
0.00006
|
NM_001303256.3(MORC2):c.2313G>A (p.Lys771=)
|
rs144738487
|
0.00006
|
NM_001303256.3(MORC2):c.2381-12C>T
|
rs771911706
|
0.00006
|
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn)
|
rs150980372
|
0.00006
|
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=)
|
rs565441094
|
0.00006
|
NM_001303256.3(MORC2):c.2668G>A (p.Glu890Lys)
|
rs201090445
|
0.00006
|
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)
|
rs150496681
|
0.00006
|
NM_001303256.3(MORC2):c.426+13A>G
|
rs773335077
|
0.00006
|
NM_001365951.3(KIF1B):c.107-8T>A
|
rs749389756
|
0.00006
|
NM_001365951.3(KIF1B):c.1364C>T (p.Thr455Met)
|
rs201474903
|
0.00006
|
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
|
rs768672234
|
0.00006
|
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)
|
rs543345616
|
0.00006
|
NM_001365951.3(KIF1B):c.2115+6A>T
|
rs149407490
|
0.00006
|
NM_001365951.3(KIF1B):c.2675+3A>G
|
rs200684032
|
0.00006
|
NM_001365951.3(KIF1B):c.3688+10C>T
|
rs755222148
|
0.00006
|
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)
|
rs121908163
|
0.00006
|
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr)
|
rs202229713
|
0.00006
|
NM_001365951.3(KIF1B):c.4191G>A (p.Pro1397=)
|
rs374650248
|
0.00006
|
NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)
|
rs149417293
|
0.00006
|
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=)
|
rs765541693
|
0.00006
|
NM_001365951.3(KIF1B):c.60C>G (p.Thr20=)
|
rs751386973
|
0.00006
|
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)
|
rs760368705
|
0.00006
|
NM_001370298.3(FGD4):c.1078A>C (p.Asn360His)
|
rs761788290
|
0.00006
|
NM_001370298.3(FGD4):c.1485C>T (p.Leu495=)
|
rs767265254
|
0.00006
|
NM_001370298.3(FGD4):c.1602+14G>A
|
rs369728071
|
0.00006
|
NM_001370298.3(FGD4):c.2559C>T (p.Ser853=)
|
rs373371535
|
0.00006
|
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met)
|
rs774466701
|
0.00006
|
NM_001370298.3(FGD4):c.808G>A (p.Asp270Asn)
|
rs113416502
|
0.00006
|
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln)
|
rs144980336
|
0.00006
|
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)
|
rs373317658
|
0.00006
|
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=)
|
rs143068719
|
0.00006
|
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=)
|
rs149806996
|
0.00006
|
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=)
|
rs369351359
|
0.00006
|
NM_001376.5(DYNC1H1):c.12031A>G (p.Thr4011Ala)
|
rs753650013
|
0.00006
|
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=)
|
rs145849008
|
0.00006
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00006
|
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)
|
rs547205132
|
0.00006
|
NM_001376.5(DYNC1H1):c.13092G>T (p.Thr4364=)
|
rs756654668
|
0.00006
|
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=)
|
rs138022242
|
0.00006
|
NM_001376.5(DYNC1H1):c.13516-14G>C
|
rs768543264
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met)
|
rs773725715
|
0.00006
|
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=)
|
rs752702437
|
0.00006
|
NM_001376.5(DYNC1H1):c.4170G>T (p.Leu1390=)
|
rs373442382
|
0.00006
|
NM_001376.5(DYNC1H1):c.623C>T (p.Pro208Leu)
|
rs556010695
|
0.00006
|
NM_001376.5(DYNC1H1):c.634A>G (p.Met212Val)
|
rs138182529
|
0.00006
|
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=)
|
rs759525537
|
0.00006
|
NM_001376.5(DYNC1H1):c.6405+13C>T
|
rs368864874
|
0.00006
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=)
|
rs760083766
|
0.00006
|
NM_001376.5(DYNC1H1):c.8177+12C>G
|
rs367551573
|
0.00006
|
NM_001376.5(DYNC1H1):c.8508-13G>A
|
rs377291798
|
0.00006
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=)
|
rs145095254
|
0.00006
|
NM_001540.5(HSPB1):c.174G>C (p.Leu58=)
|
rs892258745
|
0.00006
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00006
|
NM_001605.3(AARS1):c.1344C>T (p.Ala448=)
|
rs920455151
|
0.00006
|
NM_001605.3(AARS1):c.1399A>G (p.Ile467Val)
|
rs376215607
|
0.00006
|
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu)
|
rs143844046
|
0.00006
|
NM_001605.3(AARS1):c.1878C>T (p.Gly626=)
|
rs752673097
|
0.00006
|
NM_001605.3(AARS1):c.1996G>A (p.Val666Ile)
|
rs374254987
|
0.00006
|
NM_001605.3(AARS1):c.2028G>A (p.Ala676=)
|
rs376280288
|
0.00006
|
NM_001605.3(AARS1):c.479+12C>T
|
rs201596086
|
0.00006
|
NM_001605.3(AARS1):c.597C>T (p.Asp199=)
|
rs371595834
|
0.00006
|
NM_001605.3(AARS1):c.865G>A (p.Asp289Asn)
|
rs764718265
|
0.00006
|
NM_001605.3(AARS1):c.940C>T (p.Arg314Trp)
|
rs753667245
|
0.00006
|
NM_001605.3(AARS1):c.951C>T (p.Asn317=)
|
rs763632935
|
0.00006
|
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr)
|
rs528223570
|
0.00006
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002047.4(GARS1):c.1857C>T (p.Leu619=)
|
rs183573304
|
0.00006
|
NM_002047.4(GARS1):c.2065C>G (p.Arg689Gly)
|
rs376308368
|
0.00006
|
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)
|
rs181251337
|
0.00006
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
0.00006
|
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
rs750580259
|
0.00006
|
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met)
|
rs747465472
|
0.00006
|
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu)
|
rs77807333
|
0.00006
|
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=)
|
rs199879444
|
0.00006
|
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=)
|
rs149684358
|
0.00006
|
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr)
|
rs138607722
|
0.00006
|
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407
|
0.00006
|
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His)
|
rs368584364
|
0.00006
|
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val)
|
rs372940951
|
0.00006
|
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln)
|
rs138448914
|
0.00006
|
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
|
rs746259825
|
0.00006
|
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala)
|
rs751910797
|
0.00006
|
NM_003680.4(YARS1):c.1143C>T (p.His381=)
|
rs139745541
|
0.00006
|
NM_003680.4(YARS1):c.1246C>A (p.Gln416Lys)
|
rs76611863
|
0.00006
|
NM_003680.4(YARS1):c.1349G>A (p.Arg450His)
|
rs147005844
|
0.00006
|
NM_003680.4(YARS1):c.1570G>C (p.Gly524Arg)
|
rs141974881
|
0.00006
|
NM_003680.4(YARS1):c.546A>G (p.Gln182=)
|
rs751440666
|
0.00006
|
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151
|
0.00006
|
NM_004637.6(RAB7A):c.180+9A>G
|
rs762831187
|
0.00006
|
NM_004637.6(RAB7A):c.205C>A (p.Arg69=)
|
rs963655960
|
0.00006
|
NM_004990.4(MARS1):c.1540-3C>T
|
rs372013808
|
0.00006
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
rs139600659
|
0.00006
|
NM_004990.4(MARS1):c.1995T>C (p.Phe665=)
|
rs1034831965
|
0.00006
|
NM_004990.4(MARS1):c.2236G>T (p.Val746Leu)
|
rs765690389
|
0.00006
|
NM_004990.4(MARS1):c.231A>G (p.Gln77=)
|
rs142153017
|
0.00006
|
NM_004990.4(MARS1):c.2464-13T>C
|
rs377174430
|
0.00006
|
NM_004990.4(MARS1):c.2478G>A (p.Pro826=)
|
rs149241208
|
0.00006
|
NM_004990.4(MARS1):c.2613G>A (p.Ala871=)
|
rs373439522
|
0.00006
|
NM_004990.4(MARS1):c.2622G>A (p.Ala874=)
|
rs201214343
|
0.00006
|
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392
|
0.00006
|
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
|
rs898354567
|
0.00006
|
NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys)
|
rs773169005
|
0.00006
|
NM_006096.4(NDRG1):c.205C>T (p.His69Tyr)
|
rs373590447
|
0.00006
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
NM_006096.4(NDRG1):c.510A>G (p.Glu170=)
|
rs1452356345
|
0.00006
|
NM_006096.4(NDRG1):c.537+18C>T
|
rs779638529
|
0.00006
|
NM_006096.4(NDRG1):c.704G>A (p.Arg235His)
|
rs748331213
|
0.00006
|
NM_006096.4(NDRG1):c.804C>T (p.Ala268=)
|
rs754704497
|
0.00006
|
NM_006096.4(NDRG1):c.999C>T (p.Ser333=)
|
rs201505193
|
0.00006
|
NM_006158.5(NEFL):c.1169+14G>A
|
rs1281585043
|
0.00006
|
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala)
|
rs1045761358
|
0.00006
|
NM_006158.5(NEFL):c.1590T>G (p.Val530=)
|
rs267607679
|
0.00006
|
NM_014365.3(HSPB8):c.354C>T (p.Tyr118=)
|
rs374476577
|
0.00006
|
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly)
|
rs758599286
|
0.00006
|
NM_014845.6(FIG4):c.1544T>C (p.Ile515Thr)
|
rs370249754
|
0.00006
|
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys)
|
rs770831509
|
0.00006
|
NM_014845.6(FIG4):c.1890-4A>G
|
rs376586317
|
0.00006
|
NM_014845.6(FIG4):c.2052C>T (p.Ser684=)
|
rs183958565
|
0.00006
|
NM_014845.6(FIG4):c.2154A>G (p.Pro718=)
|
rs201138266
|
0.00006
|
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe)
|
rs141116831
|
0.00006
|
NM_014845.6(FIG4):c.54T>C (p.Tyr18=)
|
rs746307320
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_014845.6(FIG4):c.66+8C>T
|
rs768404941
|
0.00006
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_014845.6(FIG4):c.923C>T (p.Ala308Val)
|
rs180689715
|
0.00006
|
NM_014874.4(MFN2):c.1709A>G (p.Asn570Ser)
|
rs376925978
|
0.00006
|
NM_014874.4(MFN2):c.1779G>A (p.Ser593=)
|
rs367623682
|
0.00006
|
NM_015271.5(TRIM2):c.1179C>T (p.Thr393=)
|
rs376619155
|
0.00006
|
NM_015271.5(TRIM2):c.1896C>T (p.Asn632=)
|
rs765696015
|
0.00006
|
NM_015271.5(TRIM2):c.1952-6T>C
|
rs548605169
|
0.00006
|
NM_015271.5(TRIM2):c.2022+18G>A
|
rs746781998
|
0.00006
|
NM_015271.5(TRIM2):c.346G>A (p.Val116Met)
|
rs763365056
|
0.00006
|
NM_016156.6(MTMR2):c.1395C>T (p.Gly465=)
|
rs369925329
|
0.00006
|
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His)
|
rs142460913
|
0.00006
|
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)
|
rs200285624
|
0.00006
|
NM_016156.6(MTMR2):c.1461C>T (p.Val487=)
|
rs372932127
|
0.00006
|
NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp)
|
rs778430688
|
0.00006
|
NM_016156.6(MTMR2):c.993+20A>T
|
rs373288455
|
0.00006
|
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
|
rs112786851
|
0.00006
|
NM_018972.4(GDAP1):c.694+5G>A
|
rs752550394
|
0.00006
|
NM_018972.4(GDAP1):c.720C>T (p.Cys240=)
|
rs367790253
|
0.00006
|
NM_018972.4(GDAP1):c.810C>T (p.Asn270=)
|
rs144111413
|
0.00006
|
NM_018972.4(GDAP1):c.885T>C (p.His295=)
|
rs752758036
|
0.00006
|
NM_018972.4(GDAP1):c.90T>C (p.His30=)
|
rs555369956
|
0.00006
|
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp)
|
rs764053619
|
0.00006
|
NM_020631.6(PLEKHG5):c.124G>C (p.Glu42Gln)
|
rs373611638
|
0.00006
|
NM_020631.6(PLEKHG5):c.1614G>T (p.Leu538=)
|
rs754624083
|
0.00006
|
NM_020631.6(PLEKHG5):c.1680+19G>A
|
rs367829100
|
0.00006
|
NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln)
|
rs376513313
|
0.00006
|
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp)
|
rs139188442
|
0.00006
|
NM_020631.6(PLEKHG5):c.2421G>A (p.Pro807=)
|
rs767407997
|
0.00006
|
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)
|
rs770593694
|
0.00006
|
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile)
|
rs371516662
|
0.00006
|
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys)
|
rs763551102
|
0.00006
|
NM_020631.6(PLEKHG5):c.665C>T (p.Thr222Met)
|
rs373678202
|
0.00006
|
NM_020631.6(PLEKHG5):c.768C>T (p.Ser256=)
|
rs780935962
|
0.00006
|
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=)
|
rs370572859
|
0.00006
|
NM_020631.6(PLEKHG5):c.984+13C>G
|
rs202154066
|
0.00006
|
NM_020631.6(PLEKHG5):c.984+7G>A
|
rs111681677
|
0.00006
|
NM_021625.5(TRPV4):c.1092C>T (p.Ala364=)
|
rs761716884
|
0.00006
|
NM_021625.5(TRPV4):c.1107C>T (p.Asp369=)
|
rs771626710
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_021625.5(TRPV4):c.144G>A (p.Ser48=)
|
rs748274621
|
0.00006
|
NM_021625.5(TRPV4):c.1491+5G>C
|
rs375360273
|
0.00006
|
NM_021625.5(TRPV4):c.1554C>T (p.Leu518=)
|
rs374644279
|
0.00006
|
NM_021625.5(TRPV4):c.1728C>T (p.Ala576=)
|
rs149742074
|
0.00006
|
NM_021625.5(TRPV4):c.1982G>A (p.Arg661His)
|
rs368448939
|
0.00006
|
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)
|
rs777647151
|
0.00006
|
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)
|
rs142656819
|
0.00006
|
NM_021625.5(TRPV4):c.25C>T (p.Arg9Cys)
|
rs758741868
|
0.00006
|
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
|
rs138396764
|
0.00006
|
NM_021625.5(TRPV4):c.709C>T (p.Arg237Ter)
|
rs746368269
|
0.00006
|
NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys)
|
rs148041016
|
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_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
NM_021629.4(GNB4):c.204-4C>G
|
rs377746889
|
0.00006
|
NM_021629.4(GNB4):c.430+7T>G
|
rs758969360
|
0.00006
|
NM_021629.4(GNB4):c.6C>T (p.Ser2=)
|
rs369560167
|
0.00006
|
NM_022489.4(INF2):c.1448C>T (p.Ser483Phe)
|
rs753188664
|
0.00006
|
NM_022489.4(INF2):c.1614C>T (p.Ile538=)
|
rs201561899
|
0.00006
|
NM_022489.4(INF2):c.1771G>C (p.Asp591His)
|
rs369421697
|
0.00006
|
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly)
|
rs539256832
|
0.00006
|
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr)
|
rs762960061
|
0.00006
|
NM_022489.4(INF2):c.2254C>T (p.Arg752Cys)
|
rs749405096
|
0.00006
|
NM_022489.4(INF2):c.237G>A (p.Glu79=)
|
rs781088811
|
0.00006
|
NM_022489.4(INF2):c.2423C>T (p.Ala808Val)
|
rs200948588
|
0.00006
|
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
|
rs759989953
|
0.00006
|
NM_022489.4(INF2):c.2599G>A (p.Glu867Lys)
|
rs777850657
|
0.00006
|
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)
|
rs377145979
|
0.00006
|
NM_022489.4(INF2):c.2879-10C>T
|
rs534732317
|
0.00006
|
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)
|
rs368372551
|
0.00006
|
NM_022489.4(INF2):c.3102C>T (p.Pro1034=)
|
rs375864368
|
0.00006
|
NM_022489.4(INF2):c.3591G>A (p.Ala1197=)
|
rs765090867
|
0.00006
|
NM_022489.4(INF2):c.366G>A (p.Gln122=)
|
rs770186824
|
0.00006
|
NM_022489.4(INF2):c.507+6C>T
|
rs749868411
|
0.00006
|
NM_022489.4(INF2):c.508-14C>T
|
rs372257945
|
0.00006
|
NM_022489.4(INF2):c.885G>A (p.Leu295=)
|
rs370680236
|
0.00006
|
NM_024577.4(SH3TC2):c.1401C>T (p.Phe467=)
|
rs150950962
|
0.00006
|
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser)
|
rs757294130
|
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.1921C>T (p.Arg641Cys)
|
rs752002618
|
0.00006
|
NM_024577.4(SH3TC2):c.2215A>G (p.Met739Val)
|
rs146707871
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)
|
rs574669908
|
0.00006
|
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln)
|
rs140666774
|
0.00006
|
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr)
|
rs367656036
|
0.00006
|
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys)
|
rs375603885
|
0.00006
|
NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser)
|
rs768331573
|
0.00006
|
NM_024577.4(SH3TC2):c.3676-9C>T
|
rs748694034
|
0.00006
|
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp)
|
rs536334280
|
0.00006
|
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg)
|
rs370844006
|
0.00006
|
NM_024577.4(SH3TC2):c.44G>A (p.Arg15Gln)
|
rs758276468
|
0.00006
|
NM_024577.4(SH3TC2):c.542G>T (p.Cys181Phe)
|
rs761372346
|
0.00006
|
NM_024577.4(SH3TC2):c.805+9G>A
|
rs143808719
|
0.00006
|
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr)
|
rs1386270581
|
0.00006
|
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)
|
rs146868794
|
0.00006
|
NM_030962.4(SBF2):c.2451G>T (p.Arg817=)
|
rs775803946
|
0.00006
|
NM_030962.4(SBF2):c.2598G>A (p.Pro866=)
|
rs376372877
|
0.00006
|
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn)
|
rs572884226
|
0.00006
|
NM_030962.4(SBF2):c.3617T>C (p.Val1206Ala)
|
rs766573319
|
0.00006
|
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His)
|
rs201249004
|
0.00006
|
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu)
|
rs200594508
|
0.00006
|
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)
|
rs147350002
|
0.00006
|
NM_030962.4(SBF2):c.4687T>C (p.Leu1563=)
|
rs563878786
|
0.00006
|
NM_030962.4(SBF2):c.4698+7dup
|
rs1193706918
|
0.00006
|
NM_030962.4(SBF2):c.5469T>C (p.Arg1823=)
|
rs373457270
|
0.00006
|
NM_030973.4(MED25):c.1038G>T (p.Leu346=)
|
rs759964732
|
0.00006
|
NM_030973.4(MED25):c.1675-6G>A
|
rs374698299
|
0.00006
|
NM_030973.4(MED25):c.1746+17C>T
|
rs376067132
|
0.00006
|
NM_030973.4(MED25):c.1762C>T (p.Pro588Ser)
|
rs777358313
|
0.00006
|
NM_030973.4(MED25):c.418C>T (p.Arg140Trp)
|
rs781140315
|
0.00006
|
NM_030973.4(MED25):c.802G>A (p.Val268Ile)
|
rs1015978148
|
0.00006
|
NM_030973.4(MED25):c.843T>C (p.Ala281=)
|
rs765788595
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_170707.4(LMNA):c.1770C>T (p.Thr590=)
|
rs397517896
|
0.00006
|
NM_170707.4(LMNA):c.1968+37C>T
|
rs555070042
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_181882.3(PRX):c.1100C>A (p.Ala367Asp)
|
rs143400291
|
0.00006
|
NM_181882.3(PRX):c.1402G>A (p.Val468Met)
|
rs763489447
|
0.00006
|
NM_181882.3(PRX):c.1479G>C (p.Glu493Asp)
|
rs367946424
|
0.00006
|
NM_181882.3(PRX):c.1500A>G (p.Ser500=)
|
rs777104457
|
0.00006
|
NM_181882.3(PRX):c.154C>A (p.Pro52Thr)
|
rs1012350923
|
0.00006
|
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)
|
rs537664679
|
0.00006
|
NM_181882.3(PRX):c.1979C>T (p.Pro660Leu)
|
rs748737580
|
0.00006
|
NM_181882.3(PRX):c.2056C>A (p.Pro686Thr)
|
rs374232032
|
0.00006
|
NM_181882.3(PRX):c.2082C>G (p.Pro694=)
|
rs1256959994
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_181882.3(PRX):c.21T>C (p.Ser7=)
|
rs553845309
|
0.00006
|
NM_181882.3(PRX):c.2296G>A (p.Val766Met)
|
rs763619423
|
0.00006
|
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg)
|
rs542711361
|
0.00006
|
NM_181882.3(PRX):c.3832G>A (p.Asp1278Asn)
|
rs377639106
|
0.00006
|
NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg)
|
rs769014032
|
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.4317C>T (p.Ser1439=)
|
rs372280596
|
0.00006
|
NM_181882.3(PRX):c.468C>T (p.Val156=)
|
rs543875999
|
0.00006
|
NM_181882.3(PRX):c.597C>T (p.Ala199=)
|
rs144157275
|
0.00006
|
NM_181882.3(PRX):c.727G>A (p.Gly243Arg)
|
rs774726424
|
0.00006
|
NM_181882.3(PRX):c.839C>T (p.Pro280Leu)
|
rs557355077
|
0.00006
|
NM_181882.3(PRX):c.992C>T (p.Pro331Leu)
|
rs566629777
|
0.00006
|
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=)
|
rs758270880
|
0.00005
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=)
|
rs143580194
|
0.00005
|
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)
|
rs375068243
|
0.00005
|
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
|
rs539019626
|
0.00005
|
NM_001005361.3(DNM2):c.102C>A (p.Ile34=)
|
rs552741402
|
0.00005
|
NM_001005361.3(DNM2):c.1881C>G (p.Pro627=)
|
rs767496363
|
0.00005
|
NM_001005361.3(DNM2):c.1944A>G (p.Gln648=)
|
rs541331101
|
0.00005
|
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)
|
rs201972896
|
0.00005
|
NM_001005361.3(DNM2):c.1969C>T (p.Arg657Cys)
|
rs772920450
|
0.00005
|
NM_001005361.3(DNM2):c.2305C>T (p.Arg769Cys)
|
rs374864354
|
0.00005
|
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu)
|
rs202060910
|
0.00005
|
NM_001005361.3(DNM2):c.384C>T (p.His128=)
|
rs201089328
|
0.00005
|
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
|
rs372235062
|
0.00005
|
NM_001005361.3(DNM2):c.792C>A (p.Ala264=)
|
rs530978513
|
0.00005
|
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235
|
0.00005
|
NM_001005373.4(LRSAM1):c.1347+5G>A
|
rs368570954
|
0.00005
|
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp)
|
rs772793971
|
0.00005
|
NM_001005373.4(LRSAM1):c.252+8G>A
|
rs751872462
|
0.00005
|
NM_001005373.4(LRSAM1):c.368T>C (p.Ile123Thr)
|
rs542497718
|
0.00005
|
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His)
|
rs368689811
|
0.00005
|
NM_001005373.4(LRSAM1):c.529-6C>T
|
rs754162095
|
0.00005
|
NM_001005373.4(LRSAM1):c.568C>T (p.Arg190Trp)
|
rs767583106
|
0.00005
|
NM_001005373.4(LRSAM1):c.619+13C>T
|
rs148704769
|
0.00005
|
NM_001122955.4(BSCL2):c.1144T>C (p.Ser382Pro)
|
rs757846034
|
0.00005
|
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)
|
rs138964424
|
0.00005
|
NM_001122955.4(BSCL2):c.866A>G (p.Tyr289Cys)
|
rs760470794
|
0.00005
|
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=)
|
rs559783362
|
0.00005
|
NM_001136472.2(LITAF):c.*185T>C
|
rs565356536
|
0.00005
|
NM_001136472.2(LITAF):c.477G>A (p.Lys159=)
|
rs371453151
|
0.00005
|
NM_001136472.2(LITAF):c.96T>C (p.Tyr32=)
|
rs756187413
|
0.00005
|
NM_001303256.3(MORC2):c.2355G>A (p.Ser785=)
|
rs371444768
|
0.00005
|
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
|
rs372199572
|
0.00005
|
NM_001303256.3(MORC2):c.3030+7C>T
|
rs766942597
|
0.00005
|
NM_001303256.3(MORC2):c.918G>A (p.Ala306=)
|
rs777693312
|
0.00005
|
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)
|
rs763679404
|
0.00005
|
NM_001365951.3(KIF1B):c.2829C>T (p.Ala943=)
|
rs745644299
|
0.00005
|
NM_001365951.3(KIF1B):c.4755C>T (p.Cys1585=)
|
rs751853543
|
0.00005
|
NM_001365951.3(KIF1B):c.4824+20T>A
|
rs776661939
|
0.00005
|
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)
|
rs772548887
|
0.00005
|
NM_001370298.3(FGD4):c.1409A>G (p.Gln470Arg)
|
rs200149526
|
0.00005
|
NM_001370298.3(FGD4):c.1602+13C>T
|
rs557373932
|
0.00005
|
NM_001370298.3(FGD4):c.2436C>T (p.Tyr812=)
|
rs528628927
|
0.00005
|
NM_001376.5(DYNC1H1):c.10203C>T (p.Asn3401=)
|
rs369455947
|
0.00005
|
NM_001376.5(DYNC1H1):c.10292A>G (p.Asn3431Ser)
|
rs764127291
|
0.00005
|
NM_001376.5(DYNC1H1):c.10909-13G>A
|
rs747149012
|
0.00005
|
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=)
|
rs370397467
|
0.00005
|
NM_001376.5(DYNC1H1):c.11295G>A (p.Thr3765=)
|
rs372847973
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_001376.5(DYNC1H1):c.12345C>T (p.Ser4115=)
|
rs774128776
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.12588C>T (p.Tyr4196=)
|
rs749876358
|
0.00005
|
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=)
|
rs780271275
|
0.00005
|
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu)
|
rs747829220
|
0.00005
|
NM_001376.5(DYNC1H1):c.13212T>C (p.Asn4404=)
|
rs373496930
|
0.00005
|
NM_001376.5(DYNC1H1):c.13407G>A (p.Val4469=)
|
rs1445271324
|
0.00005
|
NM_001376.5(DYNC1H1):c.1440C>T (p.Ile480=)
|
rs746284696
|
0.00005
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
NM_001376.5(DYNC1H1):c.2538+10C>T
|
rs201216234
|
0.00005
|
NM_001376.5(DYNC1H1):c.2539-9T>C
|
rs750362256
|
0.00005
|
NM_001376.5(DYNC1H1):c.2718+8A>G
|
rs554048647
|
0.00005
|
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994
|
0.00005
|
NM_001376.5(DYNC1H1):c.4074+15C>T
|
rs553514749
|
0.00005
|
NM_001376.5(DYNC1H1):c.4843T>C (p.Leu1615=)
|
rs375058473
|
0.00005
|
NM_001376.5(DYNC1H1):c.519-17A>G
|
rs370195127
|
0.00005
|
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr)
|
rs200722698
|
0.00005
|
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=)
|
rs142726284
|
0.00005
|
NM_001376.5(DYNC1H1):c.6029C>T (p.Pro2010Leu)
|
rs747348966
|
0.00005
|
NM_001376.5(DYNC1H1):c.7605C>T (p.Ile2535=)
|
rs370625764
|
0.00005
|
NM_001376.5(DYNC1H1):c.7615-8G>A
|
rs375161806
|
0.00005
|
NM_001376.5(DYNC1H1):c.7830G>A (p.Arg2610=)
|
rs759376664
|
0.00005
|
NM_001376.5(DYNC1H1):c.9048+20C>T
|
rs775898480
|
0.00005
|
NM_001376.5(DYNC1H1):c.9263+5G>A
|
rs200144865
|
0.00005
|
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)
|
rs777201941
|
0.00005
|
NM_001540.5(HSPB1):c.45C>T (p.Ser15=)
|
rs780878780
|
0.00005
|
NM_001540.5(HSPB1):c.537C>A (p.Ile179=)
|
rs372981842
|
0.00005
|
NM_001605.3(AARS1):c.1367G>T (p.Gly456Val)
|
rs879254125
|
0.00005
|
NM_001605.3(AARS1):c.1395G>A (p.Leu465=)
|
rs890095859
|
0.00005
|
NM_001605.3(AARS1):c.177A>G (p.Pro59=)
|
rs758674184
|
0.00005
|
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)
|
rs372221218
|
0.00005
|
NM_001605.3(AARS1):c.2025A>G (p.Ala675=)
|
rs745695764
|
0.00005
|
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)
|
rs142850278
|
0.00005
|
NM_001605.3(AARS1):c.2223G>A (p.Thr741=)
|
rs375400530
|
0.00005
|
NM_001605.3(AARS1):c.37C>T (p.Arg13Ter)
|
rs761931081
|
0.00005
|
NM_001605.3(AARS1):c.418G>A (p.Gly140Arg)
|
rs200438841
|
0.00005
|
NM_001605.3(AARS1):c.894G>A (p.Leu298=)
|
rs776027503
|
0.00005
|
NM_002047.4(GARS1):c.123C>A (p.Cys41Ter)
|
rs988893052
|
0.00005
|
NM_002047.4(GARS1):c.1663A>G (p.Met555Val)
|
rs1023871853
|
0.00005
|
NM_002047.4(GARS1):c.1904-19del
|
rs745958570
|
0.00005
|
NM_002047.4(GARS1):c.325-9C>G
|
rs770645408
|
0.00005
|
NM_002047.4(GARS1):c.333G>A (p.Ala111=)
|
rs762212188
|
0.00005
|
NM_002047.4(GARS1):c.816A>G (p.Leu272=)
|
rs777128525
|
0.00005
|
NM_002180.3(IGHMBP2):c.1236-5C>T
|
rs191443556
|
0.00005
|
NM_002180.3(IGHMBP2):c.1632+4C>T
|
rs775832239
|
0.00005
|
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=)
|
rs1337346956
|
0.00005
|
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
rs199770424
|
0.00005
|
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln)
|
rs202143060
|
0.00005
|
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)
|
rs373001247
|
0.00005
|
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=)
|
rs374950193
|
0.00005
|
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met)
|
rs1384314579
|
0.00005
|
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn)
|
rs200897747
|
0.00005
|
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
|
rs541833561
|
0.00005
|
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser)
|
rs775514650
|
0.00005
|
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388
|
0.00005
|
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His)
|
rs761191746
|
0.00005
|
NM_003680.4(YARS1):c.681A>G (p.Glu227=)
|
rs370095798
|
0.00005
|
NM_003680.4(YARS1):c.989C>A (p.Thr330Asn)
|
rs568526224
|
0.00005
|
NM_004990.4(MARS1):c.1091+2dup
|
rs754216322
|
0.00005
|
NM_004990.4(MARS1):c.1284C>T (p.Val428=)
|
rs752350446
|
0.00005
|
NM_004990.4(MARS1):c.1567A>G (p.Ile523Val)
|
rs759198038
|
0.00005
|
NM_004990.4(MARS1):c.1651T>C (p.Phe551Leu)
|
rs778475853
|
0.00005
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
0.00005
|
NM_004990.4(MARS1):c.2179C>T (p.Arg727Trp)
|
rs369861995
|
0.00005
|
NM_004990.4(MARS1):c.46C>G (p.Leu16Val)
|
rs188955897
|
0.00005
|
NM_004990.4(MARS1):c.740T>C (p.Leu247Ser)
|
rs763613524
|
0.00005
|
NM_005391.5(PDK3):c.486C>T (p.Arg162=)
|
rs1479754596
|
0.00005
|
NM_005391.5(PDK3):c.506-6G>A
|
rs376450754
|
0.00005
|
NM_006096.4(NDRG1):c.69C>A (p.Ile23=)
|
rs369862936
|
0.00005
|
NM_006096.4(NDRG1):c.944-8T>C
|
rs1274268124
|
0.00005
|
NM_006158.5(NEFL):c.1461G>A (p.Glu487=)
|
rs763418924
|
0.00005
|
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871
|
0.00005
|
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
|
rs199651811
|
0.00005
|
NM_014845.6(FIG4):c.1435-8C>T
|
rs754607430
|
0.00005
|
NM_014845.6(FIG4):c.1584-19C>T
|
rs1052424090
|
0.00005
|
NM_014845.6(FIG4):c.1890-17T>A
|
rs201890605
|
0.00005
|
NM_014845.6(FIG4):c.2096+3A>G
|
rs374223402
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_014845.6(FIG4):c.2376+8G>A
|
rs779457828
|
0.00005
|
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys)
|
rs762687855
|
0.00005
|
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu)
|
rs749696803
|
0.00005
|
NM_014845.6(FIG4):c.669G>A (p.Glu223=)
|
rs764559318
|
0.00005
|
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys)
|
rs892208077
|
0.00005
|
NM_014874.4(MFN2):c.1460C>G (p.Thr487Ser)
|
rs142110794
|
0.00005
|
NM_014874.4(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244
|
0.00005
|
NM_014874.4(MFN2):c.2204+12C>T
|
rs373553143
|
0.00005
|
NM_014874.4(MFN2):c.2259G>A (p.Leu753=)
|
rs1045537458
|
0.00005
|
NM_015271.5(TRIM2):c.1869G>A (p.Ala623=)
|
rs138879605
|
0.00005
|
NM_015271.5(TRIM2):c.2169T>C (p.Phe723=)
|
rs148412849
|
0.00005
|
NM_015271.5(TRIM2):c.454-16C>T
|
rs749230397
|
0.00005
|
NM_015271.5(TRIM2):c.561G>T (p.Gln187His)
|
rs752837955
|
0.00005
|
NM_015271.5(TRIM2):c.879G>A (p.Thr293=)
|
rs115191942
|
0.00005
|
NM_016156.6(MTMR2):c.1386+13C>A
|
rs377431314
|
0.00005
|
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)
|
rs775961979
|
0.00005
|
NM_016156.6(MTMR2):c.54G>A (p.Arg18=)
|
rs372164252
|
0.00005
|
NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly)
|
rs753316100
|
0.00005
|
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940
|
0.00005
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_020631.6(PLEKHG5):c.1455C>T (p.His485=)
|
rs368630744
|
0.00005
|
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln)
|
rs868161574
|
0.00005
|
NM_020631.6(PLEKHG5):c.1617G>T (p.Ala539=)
|
rs545959722
|
0.00005
|
NM_020631.6(PLEKHG5):c.2172C>T (p.Gly724=)
|
rs759430357
|
0.00005
|
NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn)
|
rs542531545
|
0.00005
|
NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=)
|
rs201054338
|
0.00005
|
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)
|
rs193245630
|
0.00005
|
NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg)
|
rs771066341
|
0.00005
|
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val)
|
rs367543633
|
0.00005
|
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His)
|
rs909536143
|
0.00005
|
NM_020631.6(PLEKHG5):c.834C>T (p.His278=)
|
rs368463952
|
0.00005
|
NM_021625.5(TRPV4):c.1063C>T (p.Arg355Cys)
|
rs143604694
|
0.00005
|
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
|
rs545966662
|
0.00005
|
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr)
|
rs200838499
|
0.00005
|
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)
|
rs199624080
|
0.00005
|
NM_021625.5(TRPV4):c.2247C>T (p.Pro749=)
|
rs141135321
|
0.00005
|
NM_021625.5(TRPV4):c.2270G>A (p.Arg757His)
|
rs143835743
|
0.00005
|
NM_021625.5(TRPV4):c.2459-4G>A
|
rs762182385
|
0.00005
|
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn)
|
rs200210023
|
0.00005
|
NM_021625.5(TRPV4):c.854-18C>T
|
rs368607653
|
0.00005
|
NM_021629.4(GNB4):c.598G>A (p.Val200Ile)
|
rs775578986
|
0.00005
|
NM_021629.4(GNB4):c.700-18T>G
|
rs780957835
|
0.00005
|
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys)
|
rs201776673
|
0.00005
|
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
|
rs780642540
|
0.00005
|
NM_022489.4(INF2):c.1587C>T (p.Pro529=)
|
rs755649066
|
0.00005
|
NM_022489.4(INF2):c.1950-3C>A
|
rs777132952
|
0.00005
|
NM_022489.4(INF2):c.2419-14G>A
|
rs746955943
|
0.00005
|
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn)
|
rs373532334
|
0.00005
|
NM_022489.4(INF2):c.2659G>A (p.Glu887Lys)
|
rs748529803
|
0.00005
|
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn)
|
rs776314008
|
0.00005
|
NM_022489.4(INF2):c.2879-9G>A
|
rs373139405
|
0.00005
|
NM_022489.4(INF2):c.3372C>T (p.Ala1124=)
|
rs769591308
|
0.00005
|
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp)
|
rs374049468
|
0.00005
|
NM_022489.4(INF2):c.598G>A (p.Val200Met)
|
rs377272716
|
0.00005
|
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
|
rs746572452
|
0.00005
|
NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=)
|
rs538871220
|
0.00005
|
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367
|
0.00005
|
NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile)
|
rs201934740
|
0.00005
|
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)
|
rs377372640
|
0.00005
|
NM_024577.4(SH3TC2):c.3053+16G>C
|
rs763241330
|
0.00005
|
NM_024577.4(SH3TC2):c.814C>T (p.Arg272Cys)
|
rs146143252
|
0.00005
|
NM_024577.4(SH3TC2):c.935C>T (p.Ser312Leu)
|
rs151205080
|
0.00005
|
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe)
|
rs764058215
|
0.00005
|
NM_030962.4(SBF2):c.2536+16A>G
|
rs200967111
|
0.00005
|
NM_030962.4(SBF2):c.2593C>A (p.Leu865Ile)
|
rs371380984
|
0.00005
|
NM_030962.4(SBF2):c.2954A>T (p.Asp985Val)
|
rs143883319
|
0.00005
|
NM_030962.4(SBF2):c.3758C>T (p.Thr1253Ile)
|
rs368392902
|
0.00005
|
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp)
|
rs750938785
|
0.00005
|
NM_030962.4(SBF2):c.4263A>G (p.Thr1421=)
|
rs368381654
|
0.00005
|
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271
|
0.00005
|
NM_030962.4(SBF2):c.4638C>T (p.Asp1546=)
|
rs756538097
|
0.00005
|
NM_030973.4(MED25):c.1572C>T (p.Gly524=)
|
rs559482732
|
0.00005
|
NM_030973.4(MED25):c.1785C>T (p.Thr595=)
|
rs530025381
|
0.00005
|
NM_030973.4(MED25):c.1841C>T (p.Pro614Leu)
|
rs201294692
|
0.00005
|
NM_030973.4(MED25):c.2146+17G>T
|
rs561588731
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_170707.4(LMNA):c.1803C>T (p.Ser601=)
|
rs267607604
|
0.00005
|
NM_170707.4(LMNA):c.329G>A (p.Arg110His)
|
rs556237236
|
0.00005
|
NM_170707.4(LMNA):c.357-8T>C
|
rs1053291240
|
0.00005
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)
|
rs144183238
|
0.00005
|
NM_181882.3(PRX):c.1837G>A (p.Val613Met)
|
rs773222045
|
0.00005
|
NM_181882.3(PRX):c.2164A>G (p.Met722Val)
|
rs376309142
|
0.00005
|
NM_181882.3(PRX):c.2340G>A (p.Pro780=)
|
rs147618050
|
0.00005
|
NM_181882.3(PRX):c.2373G>C (p.Gln791His)
|
rs764404206
|
0.00005
|
NM_181882.3(PRX):c.237C>T (p.Asp79=)
|
rs376174896
|
0.00005
|
NM_181882.3(PRX):c.2468C>T (p.Ala823Val)
|
rs780212559
|
0.00005
|
NM_181882.3(PRX):c.296C>G (p.Thr99Ser)
|
rs561203828
|
0.00005
|
NM_181882.3(PRX):c.3238C>T (p.Arg1080Cys)
|
rs200045096
|
0.00005
|
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
rs762213719
|
0.00005
|
NM_181882.3(PRX):c.3288C>A (p.Ile1096=)
|
rs375122789
|
0.00005
|
NM_181882.3(PRX):c.3422C>T (p.Ala1141Val)
|
rs201233076
|
0.00005
|
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
|
rs775221457
|
0.00005
|
NM_181882.3(PRX):c.4231C>T (p.Arg1411Cys)
|
rs533966999
|
0.00005
|
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu)
|
rs771234852
|
0.00005
|
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)
|
rs373051724
|
0.00005
|
NM_181882.3(PRX):c.642C>A (p.Pro214=)
|
rs551628239
|
0.00005
|
NM_181882.3(PRX):c.683G>A (p.Arg228His)
|
rs562108874
|
0.00005
|
NM_181882.3(PRX):c.848T>G (p.Val283Gly)
|
rs776556523
|
0.00005
|
NM_181882.3(PRX):c.870C>A (p.Ile290=)
|
rs758097995
|
0.00005
|
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=)
|
rs756871462
|
0.00004
|
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
|
rs1246249632
|
0.00004
|
NM_000263.4(NAGLU):c.1068C>T (p.His356=)
|
rs753745933
|
0.00004
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=)
|
rs763394060
|
0.00004
|
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
|
rs767268083
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000263.4(NAGLU):c.199C>T (p.Leu67=)
|
rs920631661
|
0.00004
|
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp)
|
rs929286583
|
0.00004
|
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
|
rs144807822
|
0.00004
|
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=)
|
rs756351696
|
0.00004
|
NM_000263.4(NAGLU):c.383+7C>T
|
rs768602711
|
0.00004
|
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp)
|
rs149859697
|
0.00004
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666
|
0.00004
|
NM_000263.4(NAGLU):c.648C>G (p.Pro216=)
|
rs755855749
|
0.00004
|
NM_001005361.3(DNM2):c.1032C>T (p.Ile344=)
|
rs747050783
|
0.00004
|
NM_001005361.3(DNM2):c.1196+603C>T
|
rs745481476
|
0.00004
|
NM_001005361.3(DNM2):c.1336-13C>T
|
rs369058231
|
0.00004
|
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
|
rs375653221
|
0.00004
|
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840
|
0.00004
|
NM_001005361.3(DNM2):c.162-16T>C
|
rs573469750
|
0.00004
|
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191
|
0.00004
|
NM_001005361.3(DNM2):c.1893+17C>T
|
rs45585238
|
0.00004
|
NM_001005361.3(DNM2):c.189C>T (p.Ile63=)
|
rs371493258
|
0.00004
|
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
|
rs757366208
|
0.00004
|
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)
|
rs202136528
|
0.00004
|
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn)
|
rs879254300
|
0.00004
|
NM_001005361.3(DNM2):c.2291+4C>T
|
rs200408852
|
0.00004
|
NM_001005361.3(DNM2):c.2292-15T>A
|
rs534518685
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001005361.3(DNM2):c.327G>A (p.Thr109=)
|
rs369843334
|
0.00004
|
NM_001005361.3(DNM2):c.453C>T (p.Asp151=)
|
rs201681441
|
0.00004
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
|
rs117398902
|
0.00004
|
NM_001005361.3(DNM2):c.993-14C>T
|
rs761380478
|
0.00004
|
NM_001005373.4(LRSAM1):c.1013G>A (p.Arg338Gln)
|
rs762000052
|
0.00004
|
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp)
|
rs763390117
|
0.00004
|
NM_001005373.4(LRSAM1):c.1145G>A (p.Arg382Gln)
|
rs369596799
|
0.00004
|
NM_001005373.4(LRSAM1):c.1280G>A (p.Arg427Gln)
|
rs200963472
|
0.00004
|
NM_001005373.4(LRSAM1):c.1353G>A (p.Ala451=)
|
rs535634291
|
0.00004
|
NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu)
|
rs546739304
|
0.00004
|
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu)
|
rs145382004
|
0.00004
|
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu)
|
rs146106537
|
0.00004
|
NM_001005373.4(LRSAM1):c.1632G>A (p.Gln544=)
|
rs762712712
|
0.00004
|
NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp)
|
rs140467743
|
0.00004
|
NM_001005373.4(LRSAM1):c.1757A>G (p.Tyr586Cys)
|
rs768302528
|
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.1877T>G (p.Val626Gly)
|
rs574202204
|
0.00004
|
NM_001005373.4(LRSAM1):c.1905C>G (p.Ile635Met)
|
rs369161790
|
0.00004
|
NM_001005373.4(LRSAM1):c.2047-15G>A
|
rs367860563
|
0.00004
|
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys)
|
rs368202093
|
0.00004
|
NM_001005373.4(LRSAM1):c.231C>T (p.Leu77=)
|
rs149769300
|
0.00004
|
NM_001005373.4(LRSAM1):c.252+3A>G
|
rs764331245
|
0.00004
|
NM_001005373.4(LRSAM1):c.294C>T (p.Asp98=)
|
rs79514284
|
0.00004
|
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile)
|
rs772202137
|
0.00004
|
NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln)
|
rs368646898
|
0.00004
|
NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val)
|
rs1039329590
|
0.00004
|
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile)
|
rs529333601
|
0.00004
|
NM_001005373.4(LRSAM1):c.543C>T (p.Asp181=)
|
rs770410548
|
0.00004
|
NM_001005373.4(LRSAM1):c.619+14G>A
|
rs770398029
|
0.00004
|
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179
|
0.00004
|
NM_001005373.4(LRSAM1):c.6G>A (p.Pro2=)
|
rs572330792
|
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.962G>A (p.Arg321Gln)
|
rs145881988
|
0.00004
|
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met)
|
rs775480266
|
0.00004
|
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=)
|
rs147902831
|
0.00004
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1234+14T>G
|
rs778380128
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001122955.4(BSCL2):c.620C>G (p.Ser207Cys)
|
rs746973203
|
0.00004
|
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=)
|
rs375554369
|
0.00004
|
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=)
|
rs767104988
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_001136472.2(LITAF):c.135G>A (p.Thr45=)
|
rs758166691
|
0.00004
|
NM_001136472.2(LITAF):c.198G>A (p.Ala66=)
|
rs146888937
|
0.00004
|
NM_001136472.2(LITAF):c.221-16C>T
|
rs778890222
|
0.00004
|
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)
|
rs777252717
|
0.00004
|
NM_001303256.3(MORC2):c.1041T>C (p.Asp347=)
|
rs764097903
|
0.00004
|
NM_001303256.3(MORC2):c.1167A>C (p.Arg389=)
|
rs765714143
|
0.00004
|
NM_001303256.3(MORC2):c.1451G>A (p.Arg484His)
|
rs143046507
|
0.00004
|
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile)
|
rs371710965
|
0.00004
|
NM_001303256.3(MORC2):c.2124G>T (p.Glu708Asp)
|
rs201652834
|
0.00004
|
NM_001303256.3(MORC2):c.2194-12C>T
|
rs373766281
|
0.00004
|
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
|
rs551185965
|
0.00004
|
NM_001303256.3(MORC2):c.2358T>C (p.Ala786=)
|
rs537987039
|
0.00004
|
NM_001303256.3(MORC2):c.2605G>A (p.Gly869Arg)
|
rs143046823
|
0.00004
|
NM_001303256.3(MORC2):c.276T>C (p.Pro92=)
|
rs142640132
|
0.00004
|
NM_001303256.3(MORC2):c.2970G>A (p.Thr990=)
|
rs781327828
|
0.00004
|
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)
|
rs778221935
|
0.00004
|
NM_001303256.3(MORC2):c.522G>A (p.Lys174=)
|
rs779685773
|
0.00004
|
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu)
|
rs368260550
|
0.00004
|
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp)
|
rs558057376
|
0.00004
|
NM_001365951.3(KIF1B):c.1623A>G (p.Pro541=)
|
rs753016667
|
0.00004
|
NM_001365951.3(KIF1B):c.1778-5C>T
|
rs567968956
|
0.00004
|
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg)
|
rs551543997
|
0.00004
|
NM_001365951.3(KIF1B):c.2459T>G (p.Phe820Cys)
|
rs763979844
|
0.00004
|
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_001365951.3(KIF1B):c.2676-18G>A
|
rs768886781
|
0.00004
|
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=)
|
rs200858074
|
0.00004
|
NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn)
|
rs370647925
|
0.00004
|
NM_001365951.3(KIF1B):c.2986G>A (p.Val996Ile)
|
rs145596547
|
0.00004
|
NM_001365951.3(KIF1B):c.3042A>C (p.Ala1014=)
|
rs748192983
|
0.00004
|
NM_001365951.3(KIF1B):c.3259+3A>C
|
rs1388178227
|
0.00004
|
NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)
|
rs574168097
|
0.00004
|
NM_001365951.3(KIF1B):c.3612G>T (p.Leu1204=)
|
rs759149212
|
0.00004
|
NM_001365951.3(KIF1B):c.3959G>A (p.Arg1320Gln)
|
rs371798689
|
0.00004
|
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)
|
rs754234374
|
0.00004
|
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)
|
rs757850683
|
0.00004
|
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
rs769092155
|
0.00004
|
NM_001365951.3(KIF1B):c.5096+10A>G
|
rs368859097
|
0.00004
|
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)
|
rs572314710
|
0.00004
|
NM_001365951.3(KIF1B):c.5324G>A (p.Arg1775His)
|
rs374303355
|
0.00004
|
NM_001365951.3(KIF1B):c.5364C>T (p.Asn1788=)
|
rs146120509
|
0.00004
|
NM_001365951.3(KIF1B):c.690C>T (p.His230=)
|
rs761836784
|
0.00004
|
NM_001365951.3(KIF1B):c.753A>C (p.Gly251=)
|
rs537439756
|
0.00004
|
NM_001370298.3(FGD4):c.1402del (p.Gln468fs)
|
rs1393673267
|
0.00004
|
NM_001370298.3(FGD4):c.1749+13G>A
|
rs373049957
|
0.00004
|
NM_001370298.3(FGD4):c.1809A>T (p.Thr603=)
|
rs1220106574
|
0.00004
|
NM_001370298.3(FGD4):c.1922+11C>T
|
rs765969178
|
0.00004
|
NM_001370298.3(FGD4):c.2046+10A>G
|
rs374150424
|
0.00004
|
NM_001370298.3(FGD4):c.2518G>A (p.Ala840Thr)
|
rs145630882
|
0.00004
|
NM_001370298.3(FGD4):c.433T>C (p.Ser145Pro)
|
rs369365466
|
0.00004
|
NM_001370298.3(FGD4):c.472T>C (p.Ser158Pro)
|
rs989660324
|
0.00004
|
NM_001370298.3(FGD4):c.546G>A (p.Val182=)
|
rs148304644
|
0.00004
|
NM_001370298.3(FGD4):c.831A>C (p.Ala277=)
|
rs529268397
|
0.00004
|
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=)
|
rs371853975
|
0.00004
|
NM_001376.5(DYNC1H1):c.10626+7A>G
|
rs1427174553
|
0.00004
|
NM_001376.5(DYNC1H1):c.10627-16C>T
|
rs762039479
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
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.11601G>A (p.Ala3867=)
|
rs781162203
|
0.00004
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=)
|
rs549895432
|
0.00004
|
NM_001376.5(DYNC1H1):c.12400-12G>A
|
rs371395881
|
0.00004
|
NM_001376.5(DYNC1H1):c.12400-15G>A
|
rs376286033
|
0.00004
|
NM_001376.5(DYNC1H1):c.12654G>A (p.Thr4218=)
|
rs747207435
|
0.00004
|
NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)
|
rs748643448
|
0.00004
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
NM_001376.5(DYNC1H1):c.13260C>T (p.Gly4420=)
|
rs777922418
|
0.00004
|
NM_001376.5(DYNC1H1):c.13302C>T (p.Val4434=)
|
rs761599389
|
0.00004
|
NM_001376.5(DYNC1H1):c.13303G>A (p.Val4435Ile)
|
rs767195767
|
0.00004
|
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn)
|
rs750353606
|
0.00004
|
NM_001376.5(DYNC1H1):c.1695C>T (p.Thr565=)
|
rs748689506
|
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.1911C>T (p.His637=)
|
rs376398498
|
0.00004
|
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile)
|
rs766014166
|
0.00004
|
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly)
|
rs751092252
|
0.00004
|
NM_001376.5(DYNC1H1):c.2612A>G (p.His871Arg)
|
rs368026551
|
0.00004
|
NM_001376.5(DYNC1H1):c.2719-12C>T
|
rs768052530
|
0.00004
|
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475
|
0.00004
|
NM_001376.5(DYNC1H1):c.3015+15del
|
rs760760333
|
0.00004
|
NM_001376.5(DYNC1H1):c.3230A>G (p.Asn1077Ser)
|
rs764451677
|
0.00004
|
NM_001376.5(DYNC1H1):c.3334-13A>G
|
rs987888842
|
0.00004
|
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met)
|
rs587780331
|
0.00004
|
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys)
|
rs774198261
|
0.00004
|
NM_001376.5(DYNC1H1):c.3961-14A>G
|
rs558548356
|
0.00004
|
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=)
|
rs780278262
|
0.00004
|
NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser)
|
rs566164007
|
0.00004
|
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=)
|
rs143297786
|
0.00004
|
NM_001376.5(DYNC1H1):c.5239-10T>C
|
rs751574217
|
0.00004
|
NM_001376.5(DYNC1H1):c.5239-12T>C
|
rs377506256
|
0.00004
|
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)
|
rs199740595
|
0.00004
|
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met)
|
rs780345145
|
0.00004
|
NM_001376.5(DYNC1H1):c.5364C>T (p.Thr1788=)
|
rs748651294
|
0.00004
|
NM_001376.5(DYNC1H1):c.5594A>G (p.Lys1865Arg)
|
rs146678667
|
0.00004
|
NM_001376.5(DYNC1H1):c.5698C>T (p.Leu1900=)
|
rs371157224
|
0.00004
|
NM_001376.5(DYNC1H1):c.5818-4C>T
|
rs532720319
|
0.00004
|
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=)
|
rs751526144
|
0.00004
|
NM_001376.5(DYNC1H1):c.6180C>T (p.Arg2060=)
|
rs758504650
|
0.00004
|
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=)
|
rs374997831
|
0.00004
|
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile)
|
rs765613848
|
0.00004
|
NM_001376.5(DYNC1H1):c.6486G>A (p.Ser2162=)
|
rs149707073
|
0.00004
|
NM_001376.5(DYNC1H1):c.6540G>A (p.Glu2180=)
|
rs779821662
|
0.00004
|
NM_001376.5(DYNC1H1):c.668G>A (p.Arg223His)
|
rs561761105
|
0.00004
|
NM_001376.5(DYNC1H1):c.6732C>T (p.Leu2244=)
|
rs572885000
|
0.00004
|
NM_001376.5(DYNC1H1):c.6857+5G>A
|
rs371934648
|
0.00004
|
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=)
|
rs138326082
|
0.00004
|
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
|
rs377242217
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001376.5(DYNC1H1):c.7272A>G (p.Gln2424=)
|
rs749295312
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.7626C>T (p.Ser2542=)
|
rs200589320
|
0.00004
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
NM_001376.5(DYNC1H1):c.8175C>T (p.His2725=)
|
rs150181583
|
0.00004
|
NM_001376.5(DYNC1H1):c.8177+13G>A
|
rs779567607
|
0.00004
|
NM_001376.5(DYNC1H1):c.8556G>A (p.Thr2852=)
|
rs370808839
|
0.00004
|
NM_001376.5(DYNC1H1):c.8637+9C>T
|
rs202042156
|
0.00004
|
NM_001376.5(DYNC1H1):c.8850C>T (p.Val2950=)
|
rs745463328
|
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_001376.5(DYNC1H1):c.9495C>T (p.Gly3165=)
|
rs763139389
|
0.00004
|
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=)
|
rs202053613
|
0.00004
|
NM_001376.5(DYNC1H1):c.9645A>G (p.Val3215=)
|
rs746764653
|
0.00004
|
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
|
rs780988351
|
0.00004
|
NM_001540.5(HSPB1):c.39C>T (p.Gly13=)
|
rs750588141
|
0.00004
|
NM_001540.5(HSPB1):c.417G>A (p.Thr139=)
|
rs754991269
|
0.00004
|
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser)
|
rs371184292
|
0.00004
|
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val)
|
rs761208550
|
0.00004
|
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp)
|
rs377163632
|
0.00004
|
NM_001605.3(AARS1):c.145-17C>T
|
rs375832841
|
0.00004
|
NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys)
|
rs369797061
|
0.00004
|
NM_001605.3(AARS1):c.1786-5T>C
|
rs77814513
|
0.00004
|
NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys)
|
rs758423103
|
0.00004
|
NM_001605.3(AARS1):c.1992+15G>A
|
rs368023282
|
0.00004
|
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
|
rs143370729
|
0.00004
|
NM_001605.3(AARS1):c.2532G>A (p.Lys844=)
|
rs371712914
|
0.00004
|
NM_001605.3(AARS1):c.2548G>A (p.Asp850Asn)
|
rs772849771
|
0.00004
|
NM_001605.3(AARS1):c.2552G>A (p.Ser851Asn)
|
rs368011194
|
0.00004
|
NM_001605.3(AARS1):c.2681A>G (p.Asn894Ser)
|
rs775024070
|
0.00004
|
NM_001605.3(AARS1):c.2700G>A (p.Thr900=)
|
rs140814462
|
0.00004
|
NM_001605.3(AARS1):c.343T>C (p.Cys115Arg)
|
rs773582597
|
0.00004
|
NM_001605.3(AARS1):c.592C>T (p.Arg198Trp)
|
rs753033177
|
0.00004
|
NM_001605.3(AARS1):c.601G>A (p.Ala201Thr)
|
rs760716722
|
0.00004
|
NM_001605.3(AARS1):c.849T>C (p.Val283=)
|
rs773866431
|
0.00004
|
NM_001605.3(AARS1):c.959G>A (p.Arg320His)
|
rs557600847
|
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.1219G>A (p.Gly407Ser)
|
rs370650205
|
0.00004
|
NM_002047.4(GARS1):c.1440T>C (p.Leu480=)
|
rs560809761
|
0.00004
|
NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr)
|
rs750971084
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu)
|
rs764238525
|
0.00004
|
NM_002047.4(GARS1):c.1737C>T (p.Phe579=)
|
rs752464405
|
0.00004
|
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)
|
rs374378925
|
0.00004
|
NM_002047.4(GARS1):c.1779C>A (p.Phe593Leu)
|
rs372368483
|
0.00004
|
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile)
|
rs201432170
|
0.00004
|
NM_002047.4(GARS1):c.1921C>T (p.His641Tyr)
|
rs191270471
|
0.00004
|
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr)
|
rs1064797334
|
0.00004
|
NM_002047.4(GARS1):c.264A>G (p.Gln88=)
|
rs776884508
|
0.00004
|
NM_002047.4(GARS1):c.282A>G (p.Ala94=)
|
rs571004464
|
0.00004
|
NM_002047.4(GARS1):c.324+3G>A
|
rs372776194
|
0.00004
|
NM_002047.4(GARS1):c.3G>T (p.Met1Ile)
|
rs781520666
|
0.00004
|
NM_002047.4(GARS1):c.44C>T (p.Ala15Val)
|
rs758037738
|
0.00004
|
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)
|
rs756664556
|
0.00004
|
NM_002047.4(GARS1):c.757G>A (p.Glu253Lys)
|
rs760051768
|
0.00004
|
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys)
|
rs780902152
|
0.00004
|
NM_002047.4(GARS1):c.787G>A (p.Val263Ile)
|
rs77518956
|
0.00004
|
NM_002180.3(IGHMBP2):c.1061-15C>T
|
rs369119507
|
0.00004
|
NM_002180.3(IGHMBP2):c.1235+7C>T
|
rs776813722
|
0.00004
|
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln)
|
rs1021399630
|
0.00004
|
NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=)
|
rs377460631
|
0.00004
|
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271
|
0.00004
|
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=)
|
rs750407517
|
0.00004
|
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys)
|
rs757425203
|
0.00004
|
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789
|
0.00004
|
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
0.00004
|
NM_002180.3(IGHMBP2):c.1749C>T (p.Asn583=)
|
rs922075405
|
0.00004
|
NM_002180.3(IGHMBP2):c.1851C>T (p.Val617=)
|
rs780238088
|
0.00004
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg)
|
rs376644749
|
0.00004
|
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=)
|
rs139237340
|
0.00004
|
NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=)
|
rs145365851
|
0.00004
|
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg)
|
rs754559345
|
0.00004
|
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)
|
rs773242930
|
0.00004
|
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
|
rs751046981
|
0.00004
|
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val)
|
rs371546836
|
0.00004
|
NM_002180.3(IGHMBP2):c.256+8C>T
|
rs760649755
|
0.00004
|
NM_002180.3(IGHMBP2):c.2612-15G>A
|
rs372230504
|
0.00004
|
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu)
|
rs372629862
|
0.00004
|
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser)
|
rs772387164
|
0.00004
|
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=)
|
rs142128884
|
0.00004
|
NM_002180.3(IGHMBP2):c.2784+7C>T
|
rs58094037
|
0.00004
|
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val)
|
rs759609027
|
0.00004
|
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)
|
rs3750977
|
0.00004
|
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=)
|
rs1201956816
|
0.00004
|
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln)
|
rs150123428
|
0.00004
|
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met)
|
rs201112136
|
0.00004
|
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
|
rs772945179
|
0.00004
|
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=)
|
rs144565481
|
0.00004
|
NM_003680.4(YARS1):c.1257G>A (p.Leu419=)
|
rs141675786
|
0.00004
|
NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys)
|
rs142142194
|
0.00004
|
NM_003680.4(YARS1):c.221C>T (p.Ala74Val)
|
rs1429267110
|
0.00004
|
NM_003680.4(YARS1):c.414C>T (p.Ser138=)
|
rs762551221
|
0.00004
|
NM_003680.4(YARS1):c.483G>C (p.Leu161=)
|
rs780528629
|
0.00004
|
NM_003680.4(YARS1):c.507G>A (p.Leu169=)
|
rs200278380
|
0.00004
|
NM_003680.4(YARS1):c.685-11A>G
|
rs751943571
|
0.00004
|
NM_004637.6(RAB7A):c.54-20T>C
|
rs370926984
|
0.00004
|
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val)
|
rs147480945
|
0.00004
|
NM_004990.4(MARS1):c.1209C>T (p.Gly403=)
|
rs746685572
|
0.00004
|
NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu)
|
rs562565076
|
0.00004
|
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
|
rs779123068
|
0.00004
|
NM_004990.4(MARS1):c.1459C>T (p.Arg487Trp)
|
rs551633010
|
0.00004
|
NM_004990.4(MARS1):c.1908G>A (p.Thr636=)
|
rs529046133
|
0.00004
|
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)
|
rs558631075
|
0.00004
|
NM_004990.4(MARS1):c.2256C>G (p.Leu752=)
|
rs201540140
|
0.00004
|
NM_004990.4(MARS1):c.2446C>T (p.Arg816Cys)
|
rs368028253
|
0.00004
|
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter)
|
rs768234938
|
0.00004
|
NM_004990.4(MARS1):c.2610T>C (p.Ala870=)
|
rs769627922
|
0.00004
|
NM_004990.4(MARS1):c.266C>T (p.Ala89Val)
|
rs781061568
|
0.00004
|
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
|
rs141397530
|
0.00004
|
NM_004990.4(MARS1):c.415-5del
|
rs781175787
|
0.00004
|
NM_004990.4(MARS1):c.478G>A (p.Ala160Thr)
|
rs764006401
|
0.00004
|
NM_004990.4(MARS1):c.630C>T (p.Pro210=)
|
rs143741525
|
0.00004
|
NM_004990.4(MARS1):c.650C>T (p.Thr217Ile)
|
rs759101321
|
0.00004
|
NM_004990.4(MARS1):c.747G>A (p.Pro249=)
|
rs200490364
|
0.00004
|
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
|
rs1017657436
|
0.00004
|
NM_004990.4(MARS1):c.831T>C (p.Asn277=)
|
rs367995771
|
0.00004
|
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr)
|
rs141105798
|
0.00004
|
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
|
rs745584505
|
0.00004
|
NM_005391.5(PDK3):c.231G>T (p.Val77=)
|
rs769270588
|
0.00004
|
NM_005391.5(PDK3):c.820G>A (p.Val274Ile)
|
rs773597771
|
0.00004
|
NM_006096.4(NDRG1):c.1082G>A (p.Arg361His)
|
rs754767167
|
0.00004
|
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe)
|
rs200046476
|
0.00004
|
NM_006096.4(NDRG1):c.1155C>T (p.Ala385=)
|
rs774605205
|
0.00004
|
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser)
|
rs200433822
|
0.00004
|
NM_006096.4(NDRG1):c.492C>T (p.Asn164=)
|
rs183043224
|
0.00004
|
NM_006096.4(NDRG1):c.594+9C>T
|
rs373172944
|
0.00004
|
NM_006096.4(NDRG1):c.698+9A>G
|
rs754728870
|
0.00004
|
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
|
rs551078982
|
0.00004
|
NM_006158.5(NEFL):c.1310G>A (p.Arg437His)
|
rs369991241
|
0.00004
|
NM_006158.5(NEFL):c.174C>T (p.Ser58=)
|
rs760360980
|
0.00004
|
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)
|
rs777547427
|
0.00004
|
NM_006158.5(NEFL):c.677T>C (p.Val226Ala)
|
rs1586128391
|
0.00004
|
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr)
|
rs752044307
|
0.00004
|
NM_014365.3(HSPB8):c.523T>G (p.Ser175Ala)
|
rs1000728639
|
0.00004
|
NM_014365.3(HSPB8):c.553G>A (p.Glu185Lys)
|
rs774648716
|
0.00004
|
NM_014365.3(HSPB8):c.93G>C (p.Leu31=)
|
rs147945133
|
0.00004
|
NM_014845.6(FIG4):c.1040-4T>C
|
rs374343214
|
0.00004
|
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys)
|
rs772677048
|
0.00004
|
NM_014845.6(FIG4):c.1158T>C (p.His386=)
|
rs370557879
|
0.00004
|
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
|
rs769415369
|
0.00004
|
NM_014845.6(FIG4):c.1386A>G (p.Glu462=)
|
rs764699770
|
0.00004
|
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg)
|
rs201742496
|
0.00004
|
NM_014845.6(FIG4):c.15C>T (p.Ala5=)
|
rs917052197
|
0.00004
|
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
|
rs749672655
|
0.00004
|
NM_014845.6(FIG4):c.2080A>G (p.Met694Val)
|
rs143531641
|
0.00004
|
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)
|
rs764799053
|
0.00004
|
NM_014845.6(FIG4):c.2147G>A (p.Arg716His)
|
rs758496638
|
0.00004
|
NM_014845.6(FIG4):c.2180+20C>T
|
rs372359387
|
0.00004
|
NM_014845.6(FIG4):c.2199A>G (p.Glu733=)
|
rs537464083
|
0.00004
|
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys)
|
rs745511182
|
0.00004
|
NM_014845.6(FIG4):c.2352A>G (p.Ala784=)
|
rs765278422
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
|
rs763532414
|
0.00004
|
NM_014845.6(FIG4):c.2704A>G (p.Ile902Val)
|
rs143685038
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln)
|
rs762663195
|
0.00004
|
NM_014845.6(FIG4):c.446+4T>A
|
rs956953729
|
0.00004
|
NM_014845.6(FIG4):c.446+5G>C
|
rs370857139
|
0.00004
|
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln)
|
rs768713956
|
0.00004
|
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln)
|
rs377402479
|
0.00004
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
NM_014874.4(MFN2):c.1288-10T>C
|
rs201151182
|
0.00004
|
NM_014874.4(MFN2):c.1451C>T (p.Thr484Met)
|
rs375480365
|
0.00004
|
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp)
|
rs146092040
|
0.00004
|
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)
|
rs376598131
|
0.00004
|
NM_014874.4(MFN2):c.176-7C>T
|
rs374055101
|
0.00004
|
NM_014874.4(MFN2):c.1762C>T (p.Pro588Ser)
|
rs771043011
|
0.00004
|
NM_014874.4(MFN2):c.2010C>T (p.Ser670=)
|
rs777640054
|
0.00004
|
NM_014874.4(MFN2):c.2069+15C>T
|
rs375924621
|
0.00004
|
NM_014874.4(MFN2):c.2070-11C>G
|
rs759614417
|
0.00004
|
NM_014874.4(MFN2):c.231C>T (p.Asp77=)
|
rs763489927
|
0.00004
|
NM_014874.4(MFN2):c.522T>C (p.His174=)
|
rs762789747
|
0.00004
|
NM_014874.4(MFN2):c.543G>A (p.Val181=)
|
rs183226846
|
0.00004
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)
|
rs387906990
|
0.00004
|
NM_014874.4(MFN2):c.933C>T (p.Asn311=)
|
rs150857365
|
0.00004
|
NM_015271.5(TRIM2):c.1086G>A (p.Leu362=)
|
rs746949607
|
0.00004
|
NM_015271.5(TRIM2):c.1215C>T (p.Asp405=)
|
rs773883569
|
0.00004
|
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln)
|
rs777541972
|
0.00004
|
NM_015271.5(TRIM2):c.1511-13T>C
|
rs547303222
|
0.00004
|
NM_015271.5(TRIM2):c.1834C>T (p.Arg612Cys)
|
rs770933241
|
0.00004
|
NM_015271.5(TRIM2):c.1990A>G (p.Ile664Val)
|
rs140853898
|
0.00004
|
NM_015271.5(TRIM2):c.445G>A (p.Asp149Asn)
|
rs140886410
|
0.00004
|
NM_015271.5(TRIM2):c.519C>T (p.His173=)
|
rs114900176
|
0.00004
|
NM_015271.5(TRIM2):c.573G>A (p.Ser191=)
|
rs376369145
|
0.00004
|
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp)
|
rs138228404
|
0.00004
|
NM_015271.5(TRIM2):c.962G>A (p.Arg321Gln)
|
rs368629463
|
0.00004
|
NM_015271.5(TRIM2):c.987C>T (p.Ile329=)
|
rs775525143
|
0.00004
|
NM_015271.5(TRIM2):c.999G>A (p.Glu333=)
|
rs114577610
|
0.00004
|
NM_016156.6(MTMR2):c.1479+17A>G
|
rs760613129
|
0.00004
|
NM_016156.6(MTMR2):c.186+9A>G
|
rs371081575
|
0.00004
|
NM_016156.6(MTMR2):c.262+4C>T
|
rs760282236
|
0.00004
|
NM_016156.6(MTMR2):c.35C>T (p.Ser12Phe)
|
rs755619139
|
0.00004
|
NM_016156.6(MTMR2):c.447T>C (p.Tyr149=)
|
rs776023078
|
0.00004
|
NM_016156.6(MTMR2):c.655-8A>G
|
rs768562214
|
0.00004
|
NM_016156.6(MTMR2):c.80+7A>G
|
rs1376851490
|
0.00004
|
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=)
|
rs368943246
|
0.00004
|
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)
|
rs371138642
|
0.00004
|
NM_018972.4(GDAP1):c.39C>T (p.Pro13=)
|
rs143063749
|
0.00004
|
NM_018972.4(GDAP1):c.579+9A>G
|
rs768849850
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)
|
rs538389475
|
0.00004
|
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr)
|
rs760113279
|
0.00004
|
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro)
|
rs1020039192
|
0.00004
|
NM_020631.6(PLEKHG5):c.1383C>T (p.Ala461=)
|
rs200957791
|
0.00004
|
NM_020631.6(PLEKHG5):c.1572C>T (p.His524=)
|
rs373184968
|
0.00004
|
NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr)
|
rs143545780
|
0.00004
|
NM_020631.6(PLEKHG5):c.2034C>T (p.Thr678=)
|
rs755808760
|
0.00004
|
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)
|
rs184242303
|
0.00004
|
NM_020631.6(PLEKHG5):c.2226C>T (p.Ser742=)
|
rs370761668
|
0.00004
|
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr)
|
rs200162521
|
0.00004
|
NM_020631.6(PLEKHG5):c.2676T>C (p.His892=)
|
rs758308121
|
0.00004
|
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)
|
rs764378556
|
0.00004
|
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys)
|
rs778272514
|
0.00004
|
NM_020631.6(PLEKHG5):c.531C>T (p.Thr177=)
|
rs567059799
|
0.00004
|
NM_020631.6(PLEKHG5):c.558C>T (p.Asp186=)
|
rs767157981
|
0.00004
|
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp)
|
rs183712624
|
0.00004
|
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
0.00004
|
NM_020631.6(PLEKHG5):c.771C>G (p.Gly257=)
|
rs200400689
|
0.00004
|
NM_020631.6(PLEKHG5):c.793C>T (p.Arg265Trp)
|
rs879253921
|
0.00004
|
NM_020631.6(PLEKHG5):c.823G>A (p.Gly275Ser)
|
rs201267486
|
0.00004
|
NM_020631.6(PLEKHG5):c.84G>A (p.Pro28=)
|
rs140428005
|
0.00004
|
NM_020631.6(PLEKHG5):c.909C>T (p.Tyr303=)
|
rs376900021
|
0.00004
|
NM_020631.6(PLEKHG5):c.916G>A (p.Asp306Asn)
|
rs781614887
|
0.00004
|
NM_020631.6(PLEKHG5):c.984+8C>T
|
rs373560661
|
0.00004
|
NM_021625.5(TRPV4):c.1039G>T (p.Asp347Tyr)
|
rs1006063188
|
0.00004
|
NM_021625.5(TRPV4):c.1062C>T (p.Ala354=)
|
rs115446386
|
0.00004
|
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)
|
rs140040335
|
0.00004
|
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
|
rs770364304
|
0.00004
|
NM_021625.5(TRPV4):c.1281T>C (p.Cys427=)
|
rs577991131
|
0.00004
|
NM_021625.5(TRPV4):c.1449C>G (p.Val483=)
|
rs1060504550
|
0.00004
|
NM_021625.5(TRPV4):c.1491+17C>T
|
rs763452614
|
0.00004
|
NM_021625.5(TRPV4):c.1492-17C>T
|
rs533510842
|
0.00004
|
NM_021625.5(TRPV4):c.153G>A (p.Pro51=)
|
rs577306678
|
0.00004
|
NM_021625.5(TRPV4):c.1543G>T (p.Val515Phe)
|
rs777901220
|
0.00004
|
NM_021625.5(TRPV4):c.1584+18G>A
|
rs10850750
|
0.00004
|
NM_021625.5(TRPV4):c.1584+18del
|
rs757667255
|
0.00004
|
NM_021625.5(TRPV4):c.1899C>T (p.Val633=)
|
rs753027239
|
0.00004
|
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)
|
rs372452565
|
0.00004
|
NM_021625.5(TRPV4):c.1989C>T (p.Ser663=)
|
rs778560334
|
0.00004
|
NM_021625.5(TRPV4):c.2010C>T (p.Leu670=)
|
rs755755753
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_021625.5(TRPV4):c.2388C>T (p.Asn796=)
|
rs116685089
|
0.00004
|
NM_021625.5(TRPV4):c.375G>A (p.Lys125=)
|
rs777366805
|
0.00004
|
NM_021625.5(TRPV4):c.387-6C>T
|
rs775634013
|
0.00004
|
NM_021625.5(TRPV4):c.656G>A (p.Arg219His)
|
rs767331924
|
0.00004
|
NM_021625.5(TRPV4):c.711A>G (p.Arg237=)
|
rs927188562
|
0.00004
|
NM_021629.4(GNB4):c.195C>T (p.Tyr65=)
|
rs768164095
|
0.00004
|
NM_021629.4(GNB4):c.259A>G (p.Thr87Ala)
|
rs780046027
|
0.00004
|
NM_021629.4(GNB4):c.367A>G (p.Ile123Val)
|
rs760551965
|
0.00004
|
NM_021629.4(GNB4):c.574T>G (p.Leu192Val)
|
rs556759178
|
0.00004
|
NM_021629.4(GNB4):c.911G>A (p.Arg304His)
|
rs771664047
|
0.00004
|
NM_021629.4(GNB4):c.917-19T>C
|
rs370399077
|
0.00004
|
NM_022489.4(INF2):c.1147G>A (p.Val383Met)
|
rs780689756
|
0.00004
|
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)
|
rs374769850
|
0.00004
|
NM_022489.4(INF2):c.118C>A (p.Arg40=)
|
rs761238349
|
0.00004
|
NM_022489.4(INF2):c.1286T>C (p.Leu429Pro)
|
rs755557218
|
0.00004
|
NM_022489.4(INF2):c.1293T>C (p.Pro431=)
|
rs758725838
|
0.00004
|
NM_022489.4(INF2):c.1725C>T (p.Asn575=)
|
rs368235032
|
0.00004
|
NM_022489.4(INF2):c.1736-17G>A
|
rs368134734
|
0.00004
|
NM_022489.4(INF2):c.1791C>T (p.Pro597=)
|
rs377222356
|
0.00004
|
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys)
|
rs368576387
|
0.00004
|
NM_022489.4(INF2):c.2043G>A (p.Glu681=)
|
rs776591878
|
0.00004
|
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
|
rs372333024
|
0.00004
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
NM_022489.4(INF2):c.2184C>T (p.Ala728=)
|
rs564499884
|
0.00004
|
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
|
rs375390523
|
0.00004
|
NM_022489.4(INF2):c.2239+17G>A
|
rs898249257
|
0.00004
|
NM_022489.4(INF2):c.2240-5T>C
|
rs765264633
|
0.00004
|
NM_022489.4(INF2):c.2418+3G>A
|
rs748896420
|
0.00004
|
NM_022489.4(INF2):c.2418+8G>A
|
rs778305724
|
0.00004
|
NM_022489.4(INF2):c.2556G>A (p.Arg852=)
|
rs763348932
|
0.00004
|
NM_022489.4(INF2):c.2765G>A (p.Arg922His)
|
rs749197190
|
0.00004
|
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)
|
rs942393807
|
0.00004
|
NM_022489.4(INF2):c.3057T>C (p.Pro1019=)
|
rs770151373
|
0.00004
|
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043
|
0.00004
|
NM_022489.4(INF2):c.3402C>T (p.Pro1134=)
|
rs773425934
|
0.00004
|
NM_022489.4(INF2):c.3436G>A (p.Asp1146Asn)
|
rs749079171
|
0.00004
|
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)
|
rs753263522
|
0.00004
|
NM_022489.4(INF2):c.359G>A (p.Ser120Asn)
|
rs777096903
|
0.00004
|
NM_022489.4(INF2):c.3606G>A (p.Ser1202=)
|
rs756383109
|
0.00004
|
NM_022489.4(INF2):c.3611C>T (p.Ser1204Leu)
|
rs376222605
|
0.00004
|
NM_022489.4(INF2):c.3694+16G>A
|
rs556924432
|
0.00004
|
NM_022489.4(INF2):c.3719A>G (p.Asn1240Ser)
|
rs1306025921
|
0.00004
|
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu)
|
rs1026924897
|
0.00004
|
NM_022489.4(INF2):c.510G>A (p.Thr170=)
|
rs750711173
|
0.00004
|
NM_022489.4(INF2):c.519C>T (p.Ser173=)
|
rs780247558
|
0.00004
|
NM_022489.4(INF2):c.701+19G>A
|
rs371962265
|
0.00004
|
NM_022489.4(INF2):c.916C>T (p.Arg306Cys)
|
rs542700662
|
0.00004
|
NM_024577.4(SH3TC2):c.1177+9C>T
|
rs375581325
|
0.00004
|
NM_024577.4(SH3TC2):c.1239C>T (p.Ala413=)
|
rs199756080
|
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.181C>T (p.Arg61Cys)
|
rs773087313
|
0.00004
|
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
|
rs143197881
|
0.00004
|
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr)
|
rs1293958398
|
0.00004
|
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His)
|
rs199991156
|
0.00004
|
NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser)
|
rs559578990
|
0.00004
|
NM_024577.4(SH3TC2):c.2449G>T (p.Asp817Tyr)
|
rs373153093
|
0.00004
|
NM_024577.4(SH3TC2):c.2574C>T (p.Ser858=)
|
rs200772521
|
0.00004
|
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys)
|
rs142488510
|
0.00004
|
NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro)
|
rs369278337
|
0.00004
|
NM_024577.4(SH3TC2):c.302G>A (p.Ser101Asn)
|
rs199603042
|
0.00004
|
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)
|
rs768044718
|
0.00004
|
NM_024577.4(SH3TC2):c.3168C>T (p.Leu1056=)
|
rs200795092
|
0.00004
|
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
|
rs766282582
|
0.00004
|
NM_024577.4(SH3TC2):c.3180C>T (p.Asp1060=)
|
rs780060168
|
0.00004
|
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln)
|
rs558800325
|
0.00004
|
NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=)
|
rs967171497
|
0.00004
|
NM_024577.4(SH3TC2):c.3479-20C>T
|
rs376784930
|
0.00004
|
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu)
|
rs571409696
|
0.00004
|
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632
|
0.00004
|
NM_024577.4(SH3TC2):c.3675+5G>C
|
rs1302647300
|
0.00004
|
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)
|
rs753142542
|
0.00004
|
NM_024577.4(SH3TC2):c.806-11A>G
|
rs904258121
|
0.00004
|
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu)
|
rs559570623
|
0.00004
|
NM_024577.4(SH3TC2):c.882C>T (p.Ser294=)
|
rs200091368
|
0.00004
|
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln)
|
rs188588431
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln)
|
rs878855130
|
0.00004
|
NM_030962.4(SBF2):c.1396-6T>C
|
rs369973804
|
0.00004
|
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln)
|
rs546485749
|
0.00004
|
NM_030962.4(SBF2):c.1569G>A (p.Lys523=)
|
rs776951161
|
0.00004
|
NM_030962.4(SBF2):c.1601-20T>C
|
rs200518136
|
0.00004
|
NM_030962.4(SBF2):c.1929+7T>C
|
rs777170105
|
0.00004
|
NM_030962.4(SBF2):c.2164C>T (p.Arg722Cys)
|
rs753111342
|
0.00004
|
NM_030962.4(SBF2):c.2183G>C (p.Ser728Thr)
|
rs751653396
|
0.00004
|
NM_030962.4(SBF2):c.2787A>T (p.Gly929=)
|
rs777826645
|
0.00004
|
NM_030962.4(SBF2):c.2883G>C (p.Gln961His)
|
rs768147206
|
0.00004
|
NM_030962.4(SBF2):c.2891A>G (p.Gln964Arg)
|
rs747309148
|
0.00004
|
NM_030962.4(SBF2):c.3087G>A (p.Gln1029=)
|
rs775337881
|
0.00004
|
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)
|
rs142891020
|
0.00004
|
NM_030962.4(SBF2):c.3169C>T (p.Arg1057Trp)
|
rs536949808
|
0.00004
|
NM_030962.4(SBF2):c.3283A>G (p.Ser1095Gly)
|
rs2942402
|
0.00004
|
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)
|
rs201514622
|
0.00004
|
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe)
|
rs1442358051
|
0.00004
|
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp)
|
rs145107442
|
0.00004
|
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met)
|
rs752638300
|
0.00004
|
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=)
|
rs766353139
|
0.00004
|
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val)
|
rs922840746
|
0.00004
|
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His)
|
rs770619905
|
0.00004
|
NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)
|
rs1064793771
|
0.00004
|
NM_030962.4(SBF2):c.5451+10_5451+13dup
|
rs1064795190
|
0.00004
|
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=)
|
rs779051883
|
0.00004
|
NM_030962.4(SBF2):c.798A>G (p.Leu266=)
|
rs138122773
|
0.00004
|
NM_030962.4(SBF2):c.810G>A (p.Thr270=)
|
rs769963369
|
0.00004
|
NM_030973.4(MED25):c.1076C>T (p.Thr359Met)
|
rs750201507
|
0.00004
|
NM_030973.4(MED25):c.1316+19C>T
|
rs566927009
|
0.00004
|
NM_030973.4(MED25):c.1335C>T (p.Pro445=)
|
rs372191174
|
0.00004
|
NM_030973.4(MED25):c.1605C>T (p.Asn535=)
|
rs922801210
|
0.00004
|
NM_030973.4(MED25):c.1873G>A (p.Ala625Thr)
|
rs1038939766
|
0.00004
|
NM_030973.4(MED25):c.1964C>T (p.Pro655Leu)
|
rs202187834
|
0.00004
|
NM_030973.4(MED25):c.1966-12G>C
|
rs754403001
|
0.00004
|
NM_030973.4(MED25):c.1989C>T (p.Pro663=)
|
rs762594410
|
0.00004
|
NM_030973.4(MED25):c.2046G>A (p.Pro682=)
|
rs755620011
|
0.00004
|
NM_030973.4(MED25):c.2071T>C (p.Leu691=)
|
rs75970529
|
0.00004
|
NM_030973.4(MED25):c.2147-16C>T
|
rs569169080
|
0.00004
|
NM_030973.4(MED25):c.2209G>A (p.Val737Ile)
|
rs767118345
|
0.00004
|
NM_030973.4(MED25):c.232C>G (p.Pro78Ala)
|
rs773539397
|
0.00004
|
NM_030973.4(MED25):c.306-9C>T
|
rs1458825800
|
0.00004
|
NM_030973.4(MED25):c.309C>A (p.Phe103Leu)
|
rs918394135
|
0.00004
|
NM_030973.4(MED25):c.342C>T (p.Ile114=)
|
rs367931150
|
0.00004
|
NM_030973.4(MED25):c.4G>C (p.Val2Leu)
|
rs780512266
|
0.00004
|
NM_030973.4(MED25):c.689-11C>T
|
rs767365955
|
0.00004
|
NM_030973.4(MED25):c.800C>T (p.Pro267Leu)
|
rs757939861
|
0.00004
|
NM_030973.4(MED25):c.810G>A (p.Pro270=)
|
rs369512125
|
0.00004
|
NM_030973.4(MED25):c.855G>A (p.Ala285=)
|
rs374949762
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
0.00004
|
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)
|
rs755686359
|
0.00004
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
NM_170707.4(LMNA):c.1311C>T (p.Ser437=)
|
rs763224059
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile)
|
rs753988867
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly)
|
rs141578711
|
0.00004
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.357-20C>T
|
rs193922724
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
NM_170707.4(LMNA):c.837G>A (p.Glu279=)
|
rs727505198
|
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_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_181882.3(PRX):c.1103G>A (p.Arg368Gln)
|
rs758888846
|
0.00004
|
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser)
|
rs150244426
|
0.00004
|
NM_181882.3(PRX):c.1282G>A (p.Gly428Arg)
|
rs151110565
|
0.00004
|
NM_181882.3(PRX):c.1391G>A (p.Arg464Gln)
|
rs553211374
|
0.00004
|
NM_181882.3(PRX):c.1645C>T (p.Pro549Ser)
|
rs1397900999
|
0.00004
|
NM_181882.3(PRX):c.1936G>A (p.Glu646Lys)
|
rs750625856
|
0.00004
|
NM_181882.3(PRX):c.2100C>T (p.Ala700=)
|
rs757528702
|
0.00004
|
NM_181882.3(PRX):c.2243C>T (p.Pro748Leu)
|
rs111252437
|
0.00004
|
NM_181882.3(PRX):c.2260C>T (p.Arg754Trp)
|
rs372473354
|
0.00004
|
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys)
|
rs772009400
|
0.00004
|
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr)
|
rs145790961
|
0.00004
|
NM_181882.3(PRX):c.2677G>A (p.Glu893Lys)
|
rs201270794
|
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.2730C>T (p.Ala910=)
|
rs878855283
|
0.00004
|
NM_181882.3(PRX):c.2731G>A (p.Val911Met)
|
rs377457671
|
0.00004
|
NM_181882.3(PRX):c.286C>T (p.Leu96=)
|
rs149325913
|
0.00004
|
NM_181882.3(PRX):c.3237T>C (p.Asp1079=)
|
rs774823527
|
0.00004
|
NM_181882.3(PRX):c.3352G>A (p.Val1118Ile)
|
rs143654708
|
0.00004
|
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
|
rs367862999
|
0.00004
|
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys)
|
rs751742049
|
0.00004
|
NM_181882.3(PRX):c.3845C>T (p.Ser1282Leu)
|
rs753530396
|
0.00004
|
NM_181882.3(PRX):c.3852C>T (p.Ser1284=)
|
rs567324732
|
0.00004
|
NM_181882.3(PRX):c.3906C>A (p.His1302Gln)
|
rs756103463
|
0.00004
|
NM_181882.3(PRX):c.4130G>A (p.Arg1377His)
|
rs200835105
|
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.4349C>T (p.Pro1450Leu)
|
rs369949312
|
0.00004
|
NM_181882.3(PRX):c.4377G>A (p.Ala1459=)
|
rs377062046
|
0.00004
|
NM_181882.3(PRX):c.466G>A (p.Val156Ile)
|
rs562267802
|
0.00004
|
NM_181882.3(PRX):c.624C>T (p.Ala208=)
|
rs777019611
|
0.00004
|
NM_181882.3(PRX):c.625G>A (p.Ala209Thr)
|
rs769143653
|
0.00004
|
NM_181882.3(PRX):c.747C>T (p.Pro249=)
|
rs3814289
|
0.00004
|
NM_181882.3(PRX):c.934C>T (p.Leu312=)
|
rs369792380
|
0.00004
|
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
|
rs763185527
|
0.00004
|
NM_000263.4(NAGLU):c.1021+8G>T
|
rs749198686
|
0.00003
|
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)
|
rs766094935
|
0.00003
|
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr)
|
rs372165410
|
0.00003
|
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=)
|
rs376593763
|
0.00003
|
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
|
rs113379621
|
0.00003
|
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=)
|
rs762031686
|
0.00003
|
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys)
|
rs772901588
|
0.00003
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro)
|
rs750668298
|
0.00003
|
NM_000263.4(NAGLU):c.255C>T (p.Ala85=)
|
rs1229160465
|
0.00003
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386
|
0.00003
|
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
|
rs575956298
|
0.00003
|
NM_000263.4(NAGLU):c.531+10C>T
|
rs373999016
|
0.00003
|
NM_000263.4(NAGLU):c.741G>C (p.Gly247=)
|
rs760463334
|
0.00003
|
NM_000263.4(NAGLU):c.813T>C (p.Phe271=)
|
rs776459470
|
0.00003
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
|
rs750625891
|
0.00003
|
NM_000263.4(NAGLU):c.984C>T (p.Ala328=)
|
rs759609134
|
0.00003
|
NM_001005361.3(DNM2):c.1041A>C (p.Ser347=)
|
rs764163643
|
0.00003
|
NM_001005361.3(DNM2):c.1196+11C>T
|
rs773099792
|
0.00003
|
NM_001005361.3(DNM2):c.1196+625C>T
|
rs542089703
|
0.00003
|
NM_001005361.3(DNM2):c.1196+640G>A
|
rs774748942
|
0.00003
|
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln)
|
rs140043676
|
0.00003
|
NM_001005361.3(DNM2):c.1372C>G (p.Arg458Gly)
|
rs745748213
|
0.00003
|
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
|
rs143992936
|
0.00003
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.1461C>T (p.Asn487=)
|
rs780182969
|
0.00003
|
NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser)
|
rs757121012
|
0.00003
|
NM_001005361.3(DNM2):c.1518G>C (p.Leu506=)
|
rs201426481
|
0.00003
|
NM_001005361.3(DNM2):c.1558-13C>T
|
rs755260650
|
0.00003
|
NM_001005361.3(DNM2):c.1558-15C>T
|
rs946792072
|
0.00003
|
NM_001005361.3(DNM2):c.161+15C>G
|
rs778544871
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001005361.3(DNM2):c.177C>A (p.Arg59=)
|
rs762795230
|
0.00003
|
NM_001005361.3(DNM2):c.1839G>T (p.Val613=)
|
rs200146468
|
0.00003
|
NM_001005361.3(DNM2):c.1858T>C (p.Phe620Leu)
|
rs1274228418
|
0.00003
|
NM_001005361.3(DNM2):c.1873G>A (p.Val625Ile)
|
rs759242886
|
0.00003
|
NM_001005361.3(DNM2):c.1922A>G (p.Asn641Ser)
|
rs767924770
|
0.00003
|
NM_001005361.3(DNM2):c.2016C>T (p.Arg672=)
|
rs368131004
|
0.00003
|
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660
|
0.00003
|
NM_001005361.3(DNM2):c.2295C>T (p.Pro765=)
|
rs1040102521
|
0.00003
|
NM_001005361.3(DNM2):c.235+9G>T
|
rs369596325
|
0.00003
|
NM_001005361.3(DNM2):c.2376C>A (p.Pro792=)
|
rs781478890
|
0.00003
|
NM_001005361.3(DNM2):c.2452G>A (p.Val818Met)
|
rs755608537
|
0.00003
|
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=)
|
rs1028907663
|
0.00003
|
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141
|
0.00003
|
NM_001005361.3(DNM2):c.471G>A (p.Lys157=)
|
rs757708760
|
0.00003
|
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu)
|
rs779734638
|
0.00003
|
NM_001005361.3(DNM2):c.700G>C (p.Val234Leu)
|
rs377159042
|
0.00003
|
NM_001005361.3(DNM2):c.750A>G (p.Ala250=)
|
rs202214529
|
0.00003
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser)
|
rs890297188
|
0.00003
|
NM_001005361.3(DNM2):c.906C>T (p.Ser302=)
|
rs1314241405
|
0.00003
|
NM_001005361.3(DNM2):c.992+11C>T
|
rs761511769
|
0.00003
|
NM_001005373.4(LRSAM1):c.129+20G>C
|
rs766476460
|
0.00003
|
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val)
|
rs751593173
|
0.00003
|
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe)
|
rs749192098
|
0.00003
|
NM_001005373.4(LRSAM1):c.1504-5C>G
|
rs377190920
|
0.00003
|
NM_001005373.4(LRSAM1):c.1587C>T (p.Leu529=)
|
rs201588177
|
0.00003
|
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp)
|
rs757208185
|
0.00003
|
NM_001005373.4(LRSAM1):c.1759C>T (p.Leu587=)
|
rs936559080
|
0.00003
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001005373.4(LRSAM1):c.1939G>A (p.Val647Ile)
|
rs879254326
|
0.00003
|
NM_001005373.4(LRSAM1):c.2062C>A (p.Leu688Ile)
|
rs765956865
|
0.00003
|
NM_001005373.4(LRSAM1):c.498G>A (p.Pro166=)
|
rs140809697
|
0.00003
|
NM_001005373.4(LRSAM1):c.546C>T (p.Ala182=)
|
rs956107977
|
0.00003
|
NM_001005373.4(LRSAM1):c.619+11G>A
|
rs370502826
|
0.00003
|
NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=)
|
rs376671005
|
0.00003
|
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=)
|
rs771510127
|
0.00003
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001122955.4(BSCL2):c.1235-6G>A
|
rs762484263
|
0.00003
|
NM_001122955.4(BSCL2):c.333C>T (p.Phe111=)
|
rs142016433
|
0.00003
|
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)
|
rs751277966
|
0.00003
|
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val)
|
rs760613992
|
0.00003
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
NM_001122955.4(BSCL2):c.786G>A (p.Ala262=)
|
rs780533531
|
0.00003
|
NM_001122955.4(BSCL2):c.955A>G (p.Met319Val)
|
rs369511412
|
0.00003
|
NM_001136472.2(LITAF):c.179C>T (p.Ser60Leu)
|
rs765644026
|
0.00003
|
NM_001136472.2(LITAF):c.209A>G (p.Asn70Ser)
|
rs746577483
|
0.00003
|
NM_001136472.2(LITAF):c.220+4C>T
|
rs771956181
|
0.00003
|
NM_001136472.2(LITAF):c.225C>T (p.Thr75=)
|
rs373639052
|
0.00003
|
NM_001136472.2(LITAF):c.239A>G (p.Tyr80Cys)
|
rs539627278
|
0.00003
|
NM_001136472.2(LITAF):c.240C>T (p.Tyr80=)
|
rs149184234
|
0.00003
|
NM_001136472.2(LITAF):c.357C>T (p.Cys119=)
|
rs549492447
|
0.00003
|
NM_001136472.2(LITAF):c.411C>T (p.Cys137=)
|
rs748118642
|
0.00003
|
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr)
|
rs543022814
|
0.00003
|
NM_001303256.3(MORC2):c.1027C>T (p.Arg343Cys)
|
rs368475981
|
0.00003
|
NM_001303256.3(MORC2):c.158-3C>T
|
rs776368889
|
0.00003
|
NM_001303256.3(MORC2):c.1605-3C>T
|
rs111618347
|
0.00003
|
NM_001303256.3(MORC2):c.1667C>T (p.Thr556Met)
|
rs776665575
|
0.00003
|
NM_001303256.3(MORC2):c.1668G>A (p.Thr556=)
|
rs759248549
|
0.00003
|
NM_001303256.3(MORC2):c.1823G>A (p.Arg608His)
|
rs781443418
|
0.00003
|
NM_001303256.3(MORC2):c.18C>T (p.Tyr6=)
|
rs189769173
|
0.00003
|
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
|
rs201032497
|
0.00003
|
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu)
|
rs760522350
|
0.00003
|
NM_001303256.3(MORC2):c.2232T>C (p.Asp744=)
|
rs775654284
|
0.00003
|
NM_001303256.3(MORC2):c.227-9C>T
|
rs1210127794
|
0.00003
|
NM_001303256.3(MORC2):c.2270A>G (p.Glu757Gly)
|
rs774444542
|
0.00003
|
NM_001303256.3(MORC2):c.2604C>T (p.Gly868=)
|
rs146132479
|
0.00003
|
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His)
|
rs1388475410
|
0.00003
|
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
|
rs202243108
|
0.00003
|
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala)
|
rs771410096
|
0.00003
|
NM_001303256.3(MORC2):c.342T>C (p.Asp114=)
|
rs770837363
|
0.00003
|
NM_001303256.3(MORC2):c.536G>A (p.Arg179His)
|
rs541114863
|
0.00003
|
NM_001303256.3(MORC2):c.587-20A>G
|
rs1270306271
|
0.00003
|
NM_001303256.3(MORC2):c.732C>T (p.Ala244=)
|
rs371351399
|
0.00003
|
NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys)
|
rs1355363942
|
0.00003
|
NM_001303256.3(MORC2):c.919C>T (p.Arg307Trp)
|
rs772692197
|
0.00003
|
NM_001303256.3(MORC2):c.975G>A (p.Thr325=)
|
rs201903402
|
0.00003
|
NM_001365951.3(KIF1B):c.1122G>A (p.Glu374=)
|
rs774770887
|
0.00003
|
NM_001365951.3(KIF1B):c.156C>T (p.Phe52=)
|
rs764651787
|
0.00003
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
NM_001365951.3(KIF1B):c.1867C>T (p.Arg623Cys)
|
rs150271500
|
0.00003
|
NM_001365951.3(KIF1B):c.2209+18A>G
|
rs753756818
|
0.00003
|
NM_001365951.3(KIF1B):c.2310C>T (p.Ala770=)
|
rs749823391
|
0.00003
|
NM_001365951.3(KIF1B):c.2397C>T (p.Tyr799=)
|
rs770641216
|
0.00003
|
NM_001365951.3(KIF1B):c.246C>T (p.Leu82=)
|
rs778486443
|
0.00003
|
NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)
|
rs778288202
|
0.00003
|
NM_001365951.3(KIF1B):c.2586G>A (p.Met862Ile)
|
rs199818954
|
0.00003
|
NM_001365951.3(KIF1B):c.2610C>T (p.Ser870=)
|
rs775697231
|
0.00003
|
NM_001365951.3(KIF1B):c.2691C>T (p.His897=)
|
rs566526002
|
0.00003
|
NM_001365951.3(KIF1B):c.2715C>T (p.Ala905=)
|
rs143046587
|
0.00003
|
NM_001365951.3(KIF1B):c.2892C>T (p.Tyr964=)
|
rs986716280
|
0.00003
|
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)
|
rs200614254
|
0.00003
|
NM_001365951.3(KIF1B):c.3045G>A (p.Ala1015=)
|
rs772919031
|
0.00003
|
NM_001365951.3(KIF1B):c.3129+11G>T
|
rs201224213
|
0.00003
|
NM_001365951.3(KIF1B):c.3151A>G (p.Met1051Val)
|
rs765659089
|
0.00003
|
NM_001365951.3(KIF1B):c.3245G>A (p.Arg1082Gln)
|
rs745363423
|
0.00003
|
NM_001365951.3(KIF1B):c.3433C>T (p.Arg1145Cys)
|
rs1394199064
|
0.00003
|
NM_001365951.3(KIF1B):c.3628A>C (p.Asn1210His)
|
rs779559577
|
0.00003
|
NM_001365951.3(KIF1B):c.3688+11G>A
|
rs535695625
|
0.00003
|
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)
|
rs749610931
|
0.00003
|
NM_001365951.3(KIF1B):c.4281C>T (p.Ser1427=)
|
rs148438684
|
0.00003
|
NM_001365951.3(KIF1B):c.429+12C>T
|
rs112261441
|
0.00003
|
NM_001365951.3(KIF1B):c.439A>G (p.Met147Val)
|
rs796287290
|
0.00003
|
NM_001365951.3(KIF1B):c.4527C>T (p.Arg1509=)
|
rs746940453
|
0.00003
|
NM_001365951.3(KIF1B):c.4803C>T (p.His1601=)
|
rs780621329
|
0.00003
|
NM_001365951.3(KIF1B):c.4824+10T>C
|
rs964671366
|
0.00003
|
NM_001365951.3(KIF1B):c.4843A>G (p.Ile1615Val)
|
rs372421679
|
0.00003
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00003
|
NM_001365951.3(KIF1B):c.5442G>A (p.Ser1814=)
|
rs188387287
|
0.00003
|
NM_001370298.3(FGD4):c.1338A>C (p.Ala446=)
|
rs1454504656
|
0.00003
|
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn)
|
rs781528826
|
0.00003
|
NM_001370298.3(FGD4):c.1842A>G (p.Lys614=)
|
rs1023207495
|
0.00003
|
NM_001370298.3(FGD4):c.1953+7C>T
|
rs1408854259
|
0.00003
|
NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg)
|
rs199546503
|
0.00003
|
NM_001370298.3(FGD4):c.1975G>A (p.Ala659Thr)
|
rs750531320
|
0.00003
|
NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp)
|
rs907657345
|
0.00003
|
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=)
|
rs201822384
|
0.00003
|
NM_001370298.3(FGD4):c.2425C>G (p.Leu809Val)
|
rs187012686
|
0.00003
|
NM_001370298.3(FGD4):c.2512A>G (p.Arg838Gly)
|
rs756201273
|
0.00003
|
NM_001370298.3(FGD4):c.2644G>C (p.Gly882Arg)
|
rs775920519
|
0.00003
|
NM_001370298.3(FGD4):c.2652A>G (p.Pro884=)
|
rs1294353519
|
0.00003
|
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)
|
rs371407163
|
0.00003
|
NM_001370298.3(FGD4):c.469G>A (p.Val157Ile)
|
rs755068251
|
0.00003
|
NM_001370298.3(FGD4):c.487C>T (p.Arg163Cys)
|
rs758603361
|
0.00003
|
NM_001370298.3(FGD4):c.953G>A (p.Arg318Lys)
|
rs750143546
|
0.00003
|
NM_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly)
|
rs569322395
|
0.00003
|
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=)
|
rs184264124
|
0.00003
|
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
|
rs372041146
|
0.00003
|
NM_001376.5(DYNC1H1):c.1044G>A (p.Thr348=)
|
rs144254264
|
0.00003
|
NM_001376.5(DYNC1H1):c.10536G>A (p.Ala3512=)
|
rs1060504512
|
0.00003
|
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=)
|
rs760532492
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
0.00003
|
NM_001376.5(DYNC1H1):c.10974G>A (p.Gly3658=)
|
rs750210648
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001376.5(DYNC1H1):c.11503A>G (p.Ile3835Val)
|
rs148513391
|
0.00003
|
NM_001376.5(DYNC1H1):c.11733A>T (p.Gly3911=)
|
rs1241394733
|
0.00003
|
NM_001376.5(DYNC1H1):c.11826C>T (p.Pro3942=)
|
rs372407438
|
0.00003
|
NM_001376.5(DYNC1H1):c.12072G>A (p.Pro4024=)
|
rs537688769
|
0.00003
|
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
|
rs748133009
|
0.00003
|
NM_001376.5(DYNC1H1):c.12103-9T>C
|
rs939623360
|
0.00003
|
NM_001376.5(DYNC1H1):c.12276-19T>G
|
rs372304898
|
0.00003
|
NM_001376.5(DYNC1H1):c.12354G>A (p.Pro4118=)
|
rs143574214
|
0.00003
|
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=)
|
rs146075696
|
0.00003
|
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
|
rs202107738
|
0.00003
|
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=)
|
rs753248251
|
0.00003
|
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln)
|
rs140013253
|
0.00003
|
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=)
|
rs143936619
|
0.00003
|
NM_001376.5(DYNC1H1):c.12745C>G (p.Gln4249Glu)
|
rs757275255
|
0.00003
|
NM_001376.5(DYNC1H1):c.12788G>A (p.Arg4263His)
|
rs762441496
|
0.00003
|
NM_001376.5(DYNC1H1):c.12811C>T (p.Arg4271Cys)
|
rs573730260
|
0.00003
|
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=)
|
rs751398567
|
0.00003
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
NM_001376.5(DYNC1H1):c.12978C>T (p.Asn4326=)
|
rs146950724
|
0.00003
|
NM_001376.5(DYNC1H1):c.12981C>T (p.Ala4327=)
|
rs538662679
|
0.00003
|
NM_001376.5(DYNC1H1):c.13261G>A (p.Ala4421Thr)
|
rs376492799
|
0.00003
|
NM_001376.5(DYNC1H1):c.13470G>A (p.Gln4490=)
|
rs780553042
|
0.00003
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
rs145366078
|
0.00003
|
NM_001376.5(DYNC1H1):c.13685-9G>A
|
rs774759609
|
0.00003
|
NM_001376.5(DYNC1H1):c.13813-11T>C
|
rs371378943
|
0.00003
|
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
|
rs747710142
|
0.00003
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.1992G>T (p.Arg664=)
|
rs1158129941
|
0.00003
|
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
|
rs758895614
|
0.00003
|
NM_001376.5(DYNC1H1):c.2538+11_2538+12del
|
rs17512061
|
0.00003
|
NM_001376.5(DYNC1H1):c.2624C>T (p.Ser875Leu)
|
rs184868637
|
0.00003
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
NM_001376.5(DYNC1H1):c.2768C>T (p.Thr923Met)
|
rs760518511
|
0.00003
|
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)
|
rs777387819
|
0.00003
|
NM_001376.5(DYNC1H1):c.3074G>A (p.Arg1025Gln)
|
rs769716075
|
0.00003
|
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=)
|
rs373334821
|
0.00003
|
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val)
|
rs140905741
|
0.00003
|
NM_001376.5(DYNC1H1):c.4722G>A (p.Glu1574=)
|
rs754521119
|
0.00003
|
NM_001376.5(DYNC1H1):c.4866G>A (p.Glu1622=)
|
rs376805489
|
0.00003
|
NM_001376.5(DYNC1H1):c.5166G>T (p.Thr1722=)
|
rs369232191
|
0.00003
|
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
|
rs138287354
|
0.00003
|
NM_001376.5(DYNC1H1):c.5978-19G>A
|
rs775189379
|
0.00003
|
NM_001376.5(DYNC1H1):c.6213G>A (p.Pro2071=)
|
rs367868632
|
0.00003
|
NM_001376.5(DYNC1H1):c.6228C>T (p.Cys2076=)
|
rs201113072
|
0.00003
|
NM_001376.5(DYNC1H1):c.6327G>A (p.Gln2109=)
|
rs746758122
|
0.00003
|
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn)
|
rs376274132
|
0.00003
|
NM_001376.5(DYNC1H1):c.6870C>T (p.Ser2290=)
|
rs768991876
|
0.00003
|
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile)
|
rs561339487
|
0.00003
|
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His)
|
rs1028991666
|
0.00003
|
NM_001376.5(DYNC1H1):c.7207G>A (p.Asp2403Asn)
|
rs755668441
|
0.00003
|
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=)
|
rs762065704
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001376.5(DYNC1H1):c.7394C>T (p.Ala2465Val)
|
rs1327313169
|
0.00003
|
NM_001376.5(DYNC1H1):c.7569C>T (p.Thr2523=)
|
rs551938682
|
0.00003
|
NM_001376.5(DYNC1H1):c.7848+17G>A
|
rs374043245
|
0.00003
|
NM_001376.5(DYNC1H1):c.7896G>A (p.Leu2632=)
|
rs17512467
|
0.00003
|
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=)
|
rs772002773
|
0.00003
|
NM_001376.5(DYNC1H1):c.8178-8G>C
|
rs758234041
|
0.00003
|
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=)
|
rs138710201
|
0.00003
|
NM_001376.5(DYNC1H1):c.8292G>A (p.Thr2764=)
|
rs376429387
|
0.00003
|
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=)
|
rs534435923
|
0.00003
|
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
|
rs774677904
|
0.00003
|
NM_001376.5(DYNC1H1):c.8772-12G>A
|
rs368192451
|
0.00003
|
NM_001376.5(DYNC1H1):c.9049-17A>G
|
rs202002525
|
0.00003
|
NM_001376.5(DYNC1H1):c.9049-19G>T
|
rs369055747
|
0.00003
|
NM_001376.5(DYNC1H1):c.9075G>A (p.Glu3025=)
|
rs777623931
|
0.00003
|
NM_001376.5(DYNC1H1):c.9300A>G (p.Glu3100=)
|
rs148753855
|
0.00003
|
NM_001540.5(HSPB1):c.225C>G (p.Arg75=)
|
rs535398122
|
0.00003
|
NM_001540.5(HSPB1):c.243C>T (p.Leu81=)
|
rs1478776061
|
0.00003
|
NM_001540.5(HSPB1):c.333C>A (p.Val111=)
|
rs1240082057
|
0.00003
|
NM_001540.5(HSPB1):c.364+10C>A
|
rs577343607
|
0.00003
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219
|
0.00003
|
NM_001540.5(HSPB1):c.379C>A (p.Arg127=)
|
rs29001571
|
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_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
|
rs1422978230
|
0.00003
|
NM_001540.5(HSPB1):c.70C>A (p.Pro24Thr)
|
rs1414148792
|
0.00003
|
NM_001605.3(AARS1):c.1060G>A (p.Val354Ile)
|
rs762395098
|
0.00003
|
NM_001605.3(AARS1):c.1219C>A (p.Pro407Thr)
|
rs139618202
|
0.00003
|
NM_001605.3(AARS1):c.1221C>T (p.Pro407=)
|
rs199547987
|
0.00003
|
NM_001605.3(AARS1):c.1244A>G (p.Tyr415Cys)
|
rs373069396
|
0.00003
|
NM_001605.3(AARS1):c.1275T>C (p.Thr425=)
|
rs750552137
|
0.00003
|
NM_001605.3(AARS1):c.1347G>A (p.Gln449=)
|
rs200557581
|
0.00003
|
NM_001605.3(AARS1):c.1348-9T>C
|
rs201538906
|
0.00003
|
NM_001605.3(AARS1):c.1421G>A (p.Arg474Gln)
|
rs202036345
|
0.00003
|
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)
|
rs771059047
|
0.00003
|
NM_001605.3(AARS1):c.1789C>T (p.Arg597Ter)
|
rs768830699
|
0.00003
|
NM_001605.3(AARS1):c.1847G>A (p.Arg616His)
|
rs781270199
|
0.00003
|
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)
|
rs749039663
|
0.00003
|
NM_001605.3(AARS1):c.2046A>G (p.Leu682=)
|
rs757898507
|
0.00003
|
NM_001605.3(AARS1):c.2193G>C (p.Ser731=)
|
rs746349849
|
0.00003
|
NM_001605.3(AARS1):c.2218G>C (p.Val740Leu)
|
rs749217453
|
0.00003
|
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln)
|
rs1383041194
|
0.00003
|
NM_001605.3(AARS1):c.2306G>C (p.Ser769Thr)
|
rs377051192
|
0.00003
|
NM_001605.3(AARS1):c.2324C>T (p.Ser775Phe)
|
rs372602483
|
0.00003
|
NM_001605.3(AARS1):c.2485T>C (p.Leu829=)
|
rs760816488
|
0.00003
|
NM_001605.3(AARS1):c.2722-12C>T
|
rs781277357
|
0.00003
|
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330
|
0.00003
|
NM_001605.3(AARS1):c.2752G>A (p.Glu918Lys)
|
rs778342335
|
0.00003
|
NM_001605.3(AARS1):c.391G>A (p.Glu131Lys)
|
rs769706358
|
0.00003
|
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)
|
rs763378637
|
0.00003
|
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)
|
rs765398055
|
0.00003
|
NM_001605.3(AARS1):c.525C>G (p.Phe175Leu)
|
rs369147317
|
0.00003
|
NM_001605.3(AARS1):c.542C>G (p.Thr181Arg)
|
rs202099051
|
0.00003
|
NM_001605.3(AARS1):c.713T>C (p.Ile238Thr)
|
rs372680730
|
0.00003
|
NM_001605.3(AARS1):c.937G>A (p.Gly313Ser)
|
rs141331431
|
0.00003
|
NM_002047.4(GARS1):c.1341A>G (p.Ala447=)
|
rs765984852
|
0.00003
|
NM_002047.4(GARS1):c.144C>T (p.Ala48=)
|
rs754360926
|
0.00003
|
NM_002047.4(GARS1):c.163A>G (p.Met55Val)
|
rs900324585
|
0.00003
|
NM_002047.4(GARS1):c.1700-13A>G
|
rs762966640
|
0.00003
|
NM_002047.4(GARS1):c.174G>A (p.Ala58=)
|
rs747227947
|
0.00003
|
NM_002047.4(GARS1):c.1760C>T (p.Thr587Met)
|
rs750292154
|
0.00003
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046
|
0.00003
|
NM_002047.4(GARS1):c.1929A>G (p.Val643=)
|
rs376451704
|
0.00003
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920
|
0.00003
|
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg)
|
rs369224847
|
0.00003
|
NM_002047.4(GARS1):c.52C>A (p.Leu18Met)
|
rs368574634
|
0.00003
|
NM_002047.4(GARS1):c.69G>A (p.Arg23=)
|
rs762624758
|
0.00003
|
NM_002047.4(GARS1):c.866G>A (p.Gly289Glu)
|
rs1343637666
|
0.00003
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_002047.4(GARS1):c.90C>T (p.Leu30=)
|
rs1057519166
|
0.00003
|
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=)
|
rs779452908
|
0.00003
|
NM_002180.3(IGHMBP2):c.1236-6G>A
|
rs201538340
|
0.00003
|
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
|
rs200089714
|
0.00003
|
NM_002180.3(IGHMBP2):c.1418+12G>A
|
rs946450534
|
0.00003
|
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met)
|
rs1170552394
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe)
|
rs375645505
|
0.00003
|
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
|
rs369816416
|
0.00003
|
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
rs1225363387
|
0.00003
|
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu)
|
rs748775914
|
0.00003
|
NM_002180.3(IGHMBP2):c.1756+4C>T
|
rs778913429
|
0.00003
|
NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=)
|
rs780440710
|
0.00003
|
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln)
|
rs141107419
|
0.00003
|
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852
|
0.00003
|
NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=)
|
rs748530497
|
0.00003
|
NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=)
|
rs769397483
|
0.00003
|
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn)
|
rs775138577
|
0.00003
|
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe)
|
rs920864493
|
0.00003
|
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro)
|
rs755082503
|
0.00003
|
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp)
|
rs371157210
|
0.00003
|
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp)
|
rs1470672532
|
0.00003
|
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
|
rs762291036
|
0.00003
|
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
|
rs768670979
|
0.00003
|
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser)
|
rs778232785
|
0.00003
|
NM_002180.3(IGHMBP2):c.548-19G>A
|
rs1052895374
|
0.00003
|
NM_002180.3(IGHMBP2):c.711+8G>A
|
rs1403938196
|
0.00003
|
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
|
rs141836800
|
0.00003
|
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=)
|
rs770943023
|
0.00003
|
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys)
|
rs201054207
|
0.00003
|
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro)
|
rs773582904
|
0.00003
|
NM_002180.3(IGHMBP2):c.87-19A>G
|
rs183650590
|
0.00003
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
NM_003680.4(YARS1):c.1154A>C (p.Asp385Ala)
|
rs1057524362
|
0.00003
|
NM_003680.4(YARS1):c.1179C>T (p.Asp393=)
|
rs373909518
|
0.00003
|
NM_003680.4(YARS1):c.1405del (p.Phe468_Val469insTer)
|
rs777156625
|
0.00003
|
NM_003680.4(YARS1):c.1448C>T (p.Pro483Leu)
|
rs769592872
|
0.00003
|
NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)
|
rs778099655
|
0.00003
|
NM_003680.4(YARS1):c.1575G>A (p.Gly525=)
|
rs943186269
|
0.00003
|
NM_003680.4(YARS1):c.205-19C>T
|
rs768703124
|
0.00003
|
NM_003680.4(YARS1):c.211A>G (p.Ile71Val)
|
rs145768628
|
0.00003
|
NM_003680.4(YARS1):c.298G>A (p.Val100Met)
|
rs766704849
|
0.00003
|
NM_003680.4(YARS1):c.362C>G (p.Thr121Ser)
|
rs748842928
|
0.00003
|
NM_003680.4(YARS1):c.381-6C>T
|
rs376982377
|
0.00003
|
NM_003680.4(YARS1):c.511-10C>T
|
rs376935793
|
0.00003
|
NM_003680.4(YARS1):c.569A>G (p.Lys190Arg)
|
rs750198437
|
0.00003
|
NM_003680.4(YARS1):c.820+11C>T
|
rs372034259
|
0.00003
|
NM_003680.4(YARS1):c.858C>T (p.Asn286=)
|
rs367934266
|
0.00003
|
NM_003680.4(YARS1):c.937G>A (p.Val313Ile)
|
rs147074773
|
0.00003
|
NM_004637.6(RAB7A):c.503C>T (p.Thr168Met)
|
rs141978327
|
0.00003
|
NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr)
|
rs375630134
|
0.00003
|
NM_004637.6(RAB7A):c.54-17T>C
|
rs1057523037
|
0.00003
|
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser)
|
rs752824265
|
0.00003
|
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu)
|
rs866854462
|
0.00003
|
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
|
rs767132960
|
0.00003
|
NM_004990.4(MARS1):c.1294-19C>G
|
rs368800423
|
0.00003
|
NM_004990.4(MARS1):c.1369-11C>T
|
rs377436527
|
0.00003
|
NM_004990.4(MARS1):c.1369-14C>T
|
rs759180013
|
0.00003
|
NM_004990.4(MARS1):c.1378C>T (p.Arg460Ter)
|
rs764820125
|
0.00003
|
NM_004990.4(MARS1):c.1454G>A (p.Trp485Ter)
|
rs746422516
|
0.00003
|
NM_004990.4(MARS1):c.1479C>A (p.Arg493=)
|
rs148191586
|
0.00003
|
NM_004990.4(MARS1):c.1488C>T (p.Thr496=)
|
rs997411162
|
0.00003
|
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)
|
rs771808261
|
0.00003
|
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
|
rs544343105
|
0.00003
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220
|
0.00003
|
NM_004990.4(MARS1):c.2277C>T (p.Tyr759=)
|
rs377546356
|
0.00003
|
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)
|
rs369313141
|
0.00003
|
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
|
rs138343927
|
0.00003
|
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)
|
rs201007223
|
0.00003
|
NM_004990.4(MARS1):c.751C>T (p.Arg251Trp)
|
rs765580781
|
0.00003
|
NM_005391.5(PDK3):c.1137T>C (p.His379=)
|
rs201109489
|
0.00003
|
NM_005391.5(PDK3):c.204G>A (p.Pro68=)
|
rs201536570
|
0.00003
|
NM_005391.5(PDK3):c.595+12G>A
|
rs372395777
|
0.00003
|
NM_005391.5(PDK3):c.596-7C>T
|
rs761112580
|
0.00003
|
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)
|
rs200917748
|
0.00003
|
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
|
rs560162089
|
0.00003
|
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
|
rs530143616
|
0.00003
|
NM_006096.4(NDRG1):c.129T>C (p.Ser43=)
|
rs758024351
|
0.00003
|
NM_006096.4(NDRG1):c.14T>C (p.Met5Thr)
|
rs138555940
|
0.00003
|
NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln)
|
rs151322132
|
0.00003
|
NM_006096.4(NDRG1):c.307G>A (p.Ala103Thr)
|
rs374160497
|
0.00003
|
NM_006096.4(NDRG1):c.342C>T (p.Ser114=)
|
rs368561195
|
0.00003
|
NM_006096.4(NDRG1):c.345G>T (p.Met115Ile)
|
rs1345503929
|
0.00003
|
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile)
|
rs200593999
|
0.00003
|
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)
|
rs753261868
|
0.00003
|
NM_006096.4(NDRG1):c.813G>A (p.Glu271=)
|
rs368468160
|
0.00003
|
NM_006096.4(NDRG1):c.892-4G>A
|
rs751360652
|
0.00003
|
NM_006158.5(NEFL):c.1080C>T (p.Thr360=)
|
rs760765563
|
0.00003
|
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
|
rs199775873
|
0.00003
|
NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn)
|
rs774761874
|
0.00003
|
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val)
|
rs373274253
|
0.00003
|
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)
|
rs773979111
|
0.00003
|
NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro)
|
rs371037868
|
0.00003
|
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe)
|
rs1368855205
|
0.00003
|
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
|
rs1457926450
|
0.00003
|
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu)
|
rs373569840
|
0.00003
|
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn)
|
rs1036182864
|
0.00003
|
NM_014365.3(HSPB8):c.319C>T (p.Pro107Ser)
|
rs146000958
|
0.00003
|
NM_014365.3(HSPB8):c.431+15G>A
|
rs777180667
|
0.00003
|
NM_014365.3(HSPB8):c.431+19T>C
|
rs549655856
|
0.00003
|
NM_014365.3(HSPB8):c.534A>G (p.Gly178=)
|
rs756610498
|
0.00003
|
NM_014845.6(FIG4):c.136C>T (p.Pro46Ser)
|
rs1260601343
|
0.00003
|
NM_014845.6(FIG4):c.14C>T (p.Ala5Val)
|
rs915749340
|
0.00003
|
NM_014845.6(FIG4):c.1949-7C>A
|
rs758167651
|
0.00003
|
NM_014845.6(FIG4):c.1990T>C (p.Phe664Leu)
|
rs370602258
|
0.00003
|
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp)
|
rs188910818
|
0.00003
|
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys)
|
rs139235893
|
0.00003
|
NM_014845.6(FIG4):c.2232C>T (p.Ser744=)
|
rs760578430
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_014845.6(FIG4):c.2376+5G>A
|
rs528952794
|
0.00003
|
NM_014845.6(FIG4):c.2388A>G (p.Gln796=)
|
rs1439788451
|
0.00003
|
NM_014845.6(FIG4):c.243A>G (p.Lys81=)
|
rs200257799
|
0.00003
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_014845.6(FIG4):c.2547-11A>G
|
rs745613994
|
0.00003
|
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494
|
0.00003
|
NM_014845.6(FIG4):c.351G>A (p.Ala117=)
|
rs375963892
|
0.00003
|
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys)
|
rs769125243
|
0.00003
|
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp)
|
rs750102036
|
0.00003
|
NM_014845.6(FIG4):c.815T>C (p.Ile272Thr)
|
rs765737780
|
0.00003
|
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr)
|
rs766829595
|
0.00003
|
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn)
|
rs573441014
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_014874.4(MFN2):c.1113G>A (p.Ala371=)
|
rs766570486
|
0.00003
|
NM_014874.4(MFN2):c.1146G>A (p.Ala382=)
|
rs752630853
|
0.00003
|
NM_014874.4(MFN2):c.1171G>A (p.Glu391Lys)
|
rs756800190
|
0.00003
|
NM_014874.4(MFN2):c.1181G>A (p.Arg394His)
|
rs538243357
|
0.00003
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
NM_014874.4(MFN2):c.1392+7C>A
|
rs759251276
|
0.00003
|
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
|
rs771675874
|
0.00003
|
NM_014874.4(MFN2):c.1816G>A (p.Gly606Ser)
|
rs149122641
|
0.00003
|
NM_014874.4(MFN2):c.1873-16A>T
|
rs190961216
|
0.00003
|
NM_014874.4(MFN2):c.1976G>A (p.Arg659Lys)
|
rs863224063
|
0.00003
|
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu)
|
rs766735605
|
0.00003
|
NM_014874.4(MFN2):c.204C>T (p.Pro68=)
|
rs148399574
|
0.00003
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
0.00003
|
NM_014874.4(MFN2):c.2166G>C (p.Glu722Asp)
|
rs764268203
|
0.00003
|
NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys)
|
rs761544980
|
0.00003
|
NM_014874.4(MFN2):c.2215G>A (p.Gly739Ser)
|
rs1402367279
|
0.00003
|
NM_014874.4(MFN2):c.33C>T (p.Ile11=)
|
rs756450319
|
0.00003
|
NM_014874.4(MFN2):c.765C>G (p.Ile255Met)
|
rs376327713
|
0.00003
|
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln)
|
rs768407445
|
0.00003
|
NM_014874.4(MFN2):c.822G>A (p.Arg274=)
|
rs528330690
|
0.00003
|
NM_014874.4(MFN2):c.970+13A>G
|
rs771746625
|
0.00003
|
NM_015271.5(TRIM2):c.1083G>T (p.Gly361=)
|
rs779795369
|
0.00003
|
NM_015271.5(TRIM2):c.1084C>T (p.Leu362=)
|
rs368065626
|
0.00003
|
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys)
|
rs760086023
|
0.00003
|
NM_015271.5(TRIM2):c.1206C>T (p.Ser402=)
|
rs770558554
|
0.00003
|
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu)
|
rs147859999
|
0.00003
|
NM_015271.5(TRIM2):c.1740T>C (p.Asp580=)
|
rs756285274
|
0.00003
|
NM_015271.5(TRIM2):c.2132T>C (p.Ile711Thr)
|
rs772742492
|
0.00003
|
NM_015271.5(TRIM2):c.762G>A (p.Glu254=)
|
rs199678533
|
0.00003
|
NM_015271.5(TRIM2):c.858G>A (p.Ala286=)
|
rs770000289
|
0.00003
|
NM_015271.5(TRIM2):c.91G>A (p.Glu31Lys)
|
rs961206561
|
0.00003
|
NM_016156.6(MTMR2):c.1190C>G (p.Ala397Gly)
|
rs145714734
|
0.00003
|
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=)
|
rs139369561
|
0.00003
|
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr)
|
rs769280444
|
0.00003
|
NM_016156.6(MTMR2):c.1851G>C (p.Glu617Asp)
|
rs369804894
|
0.00003
|
NM_016156.6(MTMR2):c.185G>A (p.Arg62Lys)
|
rs528638298
|
0.00003
|
NM_016156.6(MTMR2):c.230C>T (p.Pro77Leu)
|
rs377327553
|
0.00003
|
NM_016156.6(MTMR2):c.522C>T (p.Ser174=)
|
rs146014892
|
0.00003
|
NM_016156.6(MTMR2):c.655-19T>C
|
rs756828009
|
0.00003
|
NM_016156.6(MTMR2):c.960T>C (p.Asp320=)
|
rs776038747
|
0.00003
|
NM_018972.4(GDAP1):c.21G>A (p.Glu7=)
|
rs199612265
|
0.00003
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
|
rs533081002
|
0.00003
|
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
|
rs150989205
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_020631.6(PLEKHG5):c.1170C>G (p.Ile390Met)
|
rs771928245
|
0.00003
|
NM_020631.6(PLEKHG5):c.1184G>A (p.Arg395His)
|
rs779612506
|
0.00003
|
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val)
|
rs767686554
|
0.00003
|
NM_020631.6(PLEKHG5):c.161G>A (p.Ser54Asn)
|
rs376703933
|
0.00003
|
NM_020631.6(PLEKHG5):c.1736C>T (p.Pro579Leu)
|
rs757727499
|
0.00003
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
NM_020631.6(PLEKHG5):c.210+16G>T
|
rs751082247
|
0.00003
|
NM_020631.6(PLEKHG5):c.211-20C>T
|
rs990630026
|
0.00003
|
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu)
|
rs761272621
|
0.00003
|
NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His)
|
rs891527256
|
0.00003
|
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=)
|
rs755539639
|
0.00003
|
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile)
|
rs761640668
|
0.00003
|
NM_020631.6(PLEKHG5):c.399C>T (p.Phe133=)
|
rs369888151
|
0.00003
|
NM_020631.6(PLEKHG5):c.607C>T (p.Arg203Cys)
|
rs1315441735
|
0.00003
|
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp)
|
rs377503203
|
0.00003
|
NM_020631.6(PLEKHG5):c.784G>C (p.Ala262Pro)
|
rs550362834
|
0.00003
|
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=)
|
rs777414805
|
0.00003
|
NM_020631.6(PLEKHG5):c.849C>T (p.Phe283=)
|
rs750570012
|
0.00003
|
NM_020631.6(PLEKHG5):c.998G>A (p.Arg333Gln)
|
rs759306471
|
0.00003
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
NM_021625.5(TRPV4):c.1104C>T (p.Asn368=)
|
rs768593770
|
0.00003
|
NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys)
|
rs878853090
|
0.00003
|
NM_021625.5(TRPV4):c.1152+10C>T
|
rs766655934
|
0.00003
|
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)
|
rs377257364
|
0.00003
|
NM_021625.5(TRPV4):c.1332+18G>A
|
rs769199876
|
0.00003
|
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln)
|
rs202244562
|
0.00003
|
NM_021625.5(TRPV4):c.1422C>T (p.Asn474=)
|
rs140533102
|
0.00003
|
NM_021625.5(TRPV4):c.1431C>T (p.Ser477=)
|
rs567786988
|
0.00003
|
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu)
|
rs115358347
|
0.00003
|
NM_021625.5(TRPV4):c.1514C>T (p.Thr505Met)
|
rs375574238
|
0.00003
|
NM_021625.5(TRPV4):c.1659-11C>T
|
rs1020641928
|
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.2193C>T (p.His731=)
|
rs767397092
|
0.00003
|
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys)
|
rs375189134
|
0.00003
|
NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu)
|
rs140602150
|
0.00003
|
NM_021625.5(TRPV4):c.2540G>T (p.Ser847Ile)
|
rs145184680
|
0.00003
|
NM_021625.5(TRPV4):c.2584C>T (p.Arg862Cys)
|
rs149267166
|
0.00003
|
NM_021625.5(TRPV4):c.2604C>T (p.Asp868=)
|
rs111598467
|
0.00003
|
NM_021625.5(TRPV4):c.36C>T (p.Pro12=)
|
rs550200361
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_021625.5(TRPV4):c.465T>C (p.Phe155=)
|
rs776500475
|
0.00003
|
NM_021625.5(TRPV4):c.478C>T (p.Arg160Trp)
|
rs780102339
|
0.00003
|
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
|
rs370289434
|
0.00003
|
NM_021629.4(GNB4):c.125G>A (p.Arg42Gln)
|
rs749082388
|
0.00003
|
NM_021629.4(GNB4):c.34G>C (p.Glu12Gln)
|
rs142308226
|
0.00003
|
NM_021629.4(GNB4):c.513C>T (p.Ile171=)
|
rs367709368
|
0.00003
|
NM_021629.4(GNB4):c.57+19A>G
|
rs771167187
|
0.00003
|
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr)
|
rs760894139
|
0.00003
|
NM_021629.4(GNB4):c.747T>G (p.Thr249=)
|
rs774571998
|
0.00003
|
NM_021629.4(GNB4):c.86C>T (p.Thr29Met)
|
rs762114369
|
0.00003
|
NM_022489.4(INF2):c.1146C>T (p.Ser382=)
|
rs756188227
|
0.00003
|
NM_022489.4(INF2):c.1254G>A (p.Ala418=)
|
rs1370627984
|
0.00003
|
NM_022489.4(INF2):c.1305C>T (p.Ala435=)
|
rs1396253816
|
0.00003
|
NM_022489.4(INF2):c.1389G>A (p.Leu463=)
|
rs1250341042
|
0.00003
|
NM_022489.4(INF2):c.1500G>A (p.Pro500=)
|
rs755670925
|
0.00003
|
NM_022489.4(INF2):c.1592C>T (p.Ala531Val)
|
rs200386025
|
0.00003
|
NM_022489.4(INF2):c.1821C>A (p.Ser607=)
|
rs751949801
|
0.00003
|
NM_022489.4(INF2):c.1848C>T (p.Pro616=)
|
rs779849550
|
0.00003
|
NM_022489.4(INF2):c.1949+18C>T
|
rs1484348980
|
0.00003
|
NM_022489.4(INF2):c.1949+3G>A
|
rs747818846
|
0.00003
|
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)
|
rs775500020
|
0.00003
|
NM_022489.4(INF2):c.2157G>A (p.Glu719=)
|
rs925997581
|
0.00003
|
NM_022489.4(INF2):c.2310C>T (p.Tyr770=)
|
rs758454108
|
0.00003
|
NM_022489.4(INF2):c.2311-12T>C
|
rs558346235
|
0.00003
|
NM_022489.4(INF2):c.2311-4C>G
|
rs371953149
|
0.00003
|
NM_022489.4(INF2):c.2418+19G>A
|
rs770701500
|
0.00003
|
NM_022489.4(INF2):c.2510G>A (p.Arg837His)
|
rs374697429
|
0.00003
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
NM_022489.4(INF2):c.2682C>T (p.Ala894=)
|
rs770520588
|
0.00003
|
NM_022489.4(INF2):c.279C>T (p.Ser93=)
|
rs199769315
|
0.00003
|
NM_022489.4(INF2):c.2801C>T (p.Ala934Val)
|
rs1001885245
|
0.00003
|
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
|
rs781494318
|
0.00003
|
NM_022489.4(INF2):c.2835G>A (p.Ala945=)
|
rs368074903
|
0.00003
|
NM_022489.4(INF2):c.2847G>A (p.Ala949=)
|
rs754546219
|
0.00003
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg)
|
rs551015347
|
0.00003
|
NM_022489.4(INF2):c.3223C>T (p.Arg1075Cys)
|
rs376685243
|
0.00003
|
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln)
|
rs368869709
|
0.00003
|
NM_022489.4(INF2):c.3435C>T (p.Ala1145=)
|
rs780026536
|
0.00003
|
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys)
|
rs755527335
|
0.00003
|
NM_022489.4(INF2):c.3590C>T (p.Ala1197Val)
|
rs372714774
|
0.00003
|
NM_022489.4(INF2):c.392-8C>G
|
rs769195530
|
0.00003
|
NM_022489.4(INF2):c.580G>A (p.Val194Met)
|
rs368298329
|
0.00003
|
NM_022489.4(INF2):c.585C>T (p.Val195=)
|
rs759408802
|
0.00003
|
NM_022489.4(INF2):c.985+10C>T
|
rs755849718
|
0.00003
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His)
|
rs587781252
|
0.00003
|
NM_024577.4(SH3TC2):c.164C>T (p.Ser55Phe)
|
rs201291203
|
0.00003
|
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys)
|
rs551953142
|
0.00003
|
NM_024577.4(SH3TC2):c.1947C>T (p.His649=)
|
rs576049662
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile)
|
rs764633604
|
0.00003
|
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser)
|
rs767415595
|
0.00003
|
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg)
|
rs912282924
|
0.00003
|
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp)
|
rs769679412
|
0.00003
|
NM_024577.4(SH3TC2):c.2254G>A (p.Asp752Asn)
|
rs749008572
|
0.00003
|
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
|
rs185149793
|
0.00003
|
NM_024577.4(SH3TC2):c.2373T>A (p.Gly791=)
|
rs187337223
|
0.00003
|
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291
|
0.00003
|
NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp)
|
rs144655516
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)
|
rs776426059
|
0.00003
|
NM_024577.4(SH3TC2):c.2873-4T>A
|
rs771093927
|
0.00003
|
NM_024577.4(SH3TC2):c.2989C>T (p.Arg997Trp)
|
rs763331671
|
0.00003
|
NM_024577.4(SH3TC2):c.3312A>G (p.Ala1104=)
|
rs369131151
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3363G>A (p.Ala1121=)
|
rs547035706
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024577.4(SH3TC2):c.529+10G>A
|
rs768567281
|
0.00003
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720
|
0.00003
|
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His)
|
rs778572329
|
0.00003
|
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)
|
rs763949764
|
0.00003
|
NM_030962.4(SBF2):c.1166A>G (p.Lys389Arg)
|
rs1490002752
|
0.00003
|
NM_030962.4(SBF2):c.1383A>G (p.Gln461=)
|
rs151036108
|
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.2160A>G (p.Gln720=)
|
rs1247703447
|
0.00003
|
NM_030962.4(SBF2):c.2350A>G (p.Ile784Val)
|
rs758912920
|
0.00003
|
NM_030962.4(SBF2):c.2450G>A (p.Arg817Gln)
|
rs369653070
|
0.00003
|
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met)
|
rs746363004
|
0.00003
|
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys)
|
rs745669920
|
0.00003
|
NM_030962.4(SBF2):c.258T>C (p.Tyr86=)
|
rs778681306
|
0.00003
|
NM_030962.4(SBF2):c.2611-18A>G
|
rs374144072
|
0.00003
|
NM_030962.4(SBF2):c.2789C>T (p.Thr930Ile)
|
rs755578344
|
0.00003
|
NM_030962.4(SBF2):c.2807-3C>T
|
rs375252298
|
0.00003
|
NM_030962.4(SBF2):c.3170G>A (p.Arg1057Gln)
|
rs138612196
|
0.00003
|
NM_030962.4(SBF2):c.3376A>T (p.Ile1126Leu)
|
rs747669195
|
0.00003
|
NM_030962.4(SBF2):c.3540G>C (p.Leu1180=)
|
rs766137744
|
0.00003
|
NM_030962.4(SBF2):c.3708A>G (p.Gln1236=)
|
rs1371647333
|
0.00003
|
NM_030962.4(SBF2):c.403-15T>G
|
rs887143579
|
0.00003
|
NM_030962.4(SBF2):c.403-8T>C
|
rs755029382
|
0.00003
|
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402
|
0.00003
|
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)
|
rs775360425
|
0.00003
|
NM_030962.4(SBF2):c.48G>A (p.Glu16=)
|
rs889453292
|
0.00003
|
NM_030962.4(SBF2):c.4970C>T (p.Pro1657Leu)
|
rs771021009
|
0.00003
|
NM_030962.4(SBF2):c.566A>G (p.His189Arg)
|
rs764000654
|
0.00003
|
NM_030962.4(SBF2):c.56G>T (p.Gly19Val)
|
rs375560902
|
0.00003
|
NM_030962.4(SBF2):c.600T>C (p.Ala200=)
|
rs770433606
|
0.00003
|
NM_030962.4(SBF2):c.832T>A (p.Ser278Thr)
|
rs746749228
|
0.00003
|
NM_030962.4(SBF2):c.898A>G (p.Ile300Val)
|
rs141669540
|
0.00003
|
NM_030962.4(SBF2):c.93T>C (p.Phe31=)
|
rs200263159
|
0.00003
|
NM_030962.4(SBF2):c.984C>T (p.His328=)
|
rs367717680
|
0.00003
|
NM_030962.4(SBF2):c.993G>A (p.Leu331=)
|
rs766193938
|
0.00003
|
NM_030973.4(MED25):c.1141C>T (p.Pro381Ser)
|
rs751399299
|
0.00003
|
NM_030973.4(MED25):c.1167C>T (p.Leu389=)
|
rs992676211
|
0.00003
|
NM_030973.4(MED25):c.1168G>A (p.Gly390Ser)
|
rs752599816
|
0.00003
|
NM_030973.4(MED25):c.1508C>T (p.Thr503Met)
|
rs759574296
|
0.00003
|
NM_030973.4(MED25):c.1593C>T (p.Ser531=)
|
rs774774157
|
0.00003
|
NM_030973.4(MED25):c.1747-13C>G
|
rs372428025
|
0.00003
|
NM_030973.4(MED25):c.1764G>A (p.Pro588=)
|
rs758729127
|
0.00003
|
NM_030973.4(MED25):c.1998C>T (p.Ser666=)
|
rs774172228
|
0.00003
|
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
|
rs764017333
|
0.00003
|
NM_030973.4(MED25):c.2098C>T (p.Pro700Ser)
|
rs745533616
|
0.00003
|
NM_030973.4(MED25):c.2147-8C>T
|
rs754555048
|
0.00003
|
NM_030973.4(MED25):c.2193G>A (p.Pro731=)
|
rs374361800
|
0.00003
|
NM_030973.4(MED25):c.600C>T (p.Pro200=)
|
rs753910880
|
0.00003
|
NM_030973.4(MED25):c.678C>T (p.Leu226=)
|
rs770604129
|
0.00003
|
NM_030973.4(MED25):c.688+16C>T
|
rs536606686
|
0.00003
|
NM_030973.4(MED25):c.764C>G (p.Ala255Gly)
|
rs763825256
|
0.00003
|
NM_030973.4(MED25):c.771C>T (p.Leu257=)
|
rs201142674
|
0.00003
|
NM_030973.4(MED25):c.904C>T (p.Arg302Cys)
|
rs775122561
|
0.00003
|
NM_030973.4(MED25):c.956C>A (p.Pro319His)
|
rs139822988
|
0.00003
|
NM_030973.4(MED25):c.96C>T (p.Phe32=)
|
rs138246339
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln)
|
rs61177390
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
NM_170707.4(LMNA):c.1317C>A (p.Arg439=)
|
rs374804871
|
0.00003
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
NM_170707.4(LMNA):c.1362G>A (p.Leu454=)
|
rs151160622
|
0.00003
|
NM_170707.4(LMNA):c.1380+18G>A
|
rs777846700
|
0.00003
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
NM_170707.4(LMNA):c.1489-9C>T
|
rs374324602
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.1699-7T>C
|
rs771074100
|
0.00003
|
NM_170707.4(LMNA):c.1746C>T (p.Arg582=)
|
rs764561834
|
0.00003
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
NM_170707.4(LMNA):c.1908C>T (p.Ser636=)
|
rs80356814
|
0.00003
|
NM_170707.4(LMNA):c.524C>T (p.Ala175Val)
|
rs369714176
|
0.00003
|
NM_170707.4(LMNA):c.731C>T (p.Ala244Val)
|
rs1183097458
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_170707.4(LMNA):c.885G>A (p.Ser295=)
|
rs776999079
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_181882.3(PRX):c.1144C>G (p.Pro382Ala)
|
rs759440986
|
0.00003
|
NM_181882.3(PRX):c.1211G>A (p.Arg404Gln)
|
rs146948818
|
0.00003
|
NM_181882.3(PRX):c.1219G>T (p.Ala407Ser)
|
rs752941494
|
0.00003
|
NM_181882.3(PRX):c.1460C>T (p.Pro487Leu)
|
rs778936443
|
0.00003
|
NM_181882.3(PRX):c.1461G>A (p.Pro487=)
|
rs757009052
|
0.00003
|
NM_181882.3(PRX):c.1539G>A (p.Pro513=)
|
rs187786861
|
0.00003
|
NM_181882.3(PRX):c.1714G>A (p.Val572Met)
|
rs370979792
|
0.00003
|
NM_181882.3(PRX):c.1752G>C (p.Glu584Asp)
|
rs759029769
|
0.00003
|
NM_181882.3(PRX):c.1827C>T (p.Pro609=)
|
rs751816156
|
0.00003
|
NM_181882.3(PRX):c.1965G>A (p.Pro655=)
|
rs186171971
|
0.00003
|
NM_181882.3(PRX):c.2244G>A (p.Pro748=)
|
rs534322807
|
0.00003
|
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu)
|
rs530370432
|
0.00003
|
NM_181882.3(PRX):c.2285A>G (p.Lys762Arg)
|
rs202165534
|
0.00003
|
NM_181882.3(PRX):c.2286G>A (p.Lys762=)
|
rs373111657
|
0.00003
|
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
|
rs377360814
|
0.00003
|
NM_181882.3(PRX):c.2425C>T (p.Leu809=)
|
rs145272609
|
0.00003
|
NM_181882.3(PRX):c.2573A>G (p.Glu858Gly)
|
rs1017754371
|
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.2790G>C (p.Lys930Asn)
|
rs758614032
|
0.00003
|
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
|
rs761769929
|
0.00003
|
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
|
rs770520776
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_181882.3(PRX):c.3041T>C (p.Leu1014Pro)
|
rs766119564
|
0.00003
|
NM_181882.3(PRX):c.3508G>A (p.Ala1170Thr)
|
rs759410504
|
0.00003
|
NM_181882.3(PRX):c.3587G>C (p.Gly1196Ala)
|
rs199640290
|
0.00003
|
NM_181882.3(PRX):c.3707C>T (p.Ala1236Val)
|
rs142501082
|
0.00003
|
NM_181882.3(PRX):c.3853G>A (p.Gly1285Arg)
|
rs374370759
|
0.00003
|
NM_181882.3(PRX):c.3866C>A (p.Ala1289Asp)
|
rs752531823
|
0.00003
|
NM_181882.3(PRX):c.3939G>A (p.Leu1313=)
|
rs140109585
|
0.00003
|
NM_181882.3(PRX):c.4121T>G (p.Val1374Gly)
|
rs773512610
|
0.00003
|
NM_181882.3(PRX):c.4124G>A (p.Arg1375Gln)
|
rs762053224
|
0.00003
|
NM_181882.3(PRX):c.4152G>A (p.Ala1384=)
|
rs756887163
|
0.00003
|
NM_181882.3(PRX):c.4157C>A (p.Pro1386His)
|
rs372582520
|
0.00003
|
NM_181882.3(PRX):c.4270G>C (p.Gly1424Arg)
|
rs754032938
|
0.00003
|
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)
|
rs138437458
|
0.00003
|
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile)
|
rs746338096
|
0.00003
|
NM_181882.3(PRX):c.493C>T (p.Arg165Cys)
|
rs555499679
|
0.00003
|
NM_181882.3(PRX):c.559C>T (p.Arg187Cys)
|
rs768929130
|
0.00003
|
NM_181882.3(PRX):c.589G>T (p.Glu197Ter)
|
rs753857146
|
0.00003
|
NM_181882.3(PRX):c.639C>G (p.Pro213=)
|
rs1479088366
|
0.00003
|
NM_181882.3(PRX):c.716C>T (p.Pro239Leu)
|
rs528907584
|
0.00003
|
NM_181882.3(PRX):c.750G>A (p.Gln250=)
|
rs1184005539
|
0.00003
|
NM_181882.3(PRX):c.793G>A (p.Gly265Ser)
|
rs1298913150
|
0.00003
|
NM_181882.3(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750
|
0.00003
|
NM_181882.3(PRX):c.840G>A (p.Pro280=)
|
rs773272074
|
0.00003
|
NM_181882.3(PRX):c.847G>A (p.Val283Met)
|
rs535087433
|
0.00003
|
NM_181882.3(PRX):c.899T>C (p.Leu300Ser)
|
rs748380935
|
0.00003
|
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)
|
rs749140168
|
0.00002
|
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=)
|
rs1412833749
|
0.00002
|
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=)
|
rs1447090076
|
0.00002
|
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936
|
0.00002
|
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=)
|
rs752971320
|
0.00002
|
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln)
|
rs1207098238
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=)
|
rs901311027
|
0.00002
|
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly)
|
rs777283283
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)
|
rs750401625
|
0.00002
|
NM_000263.4(NAGLU):c.198C>T (p.Ser66=)
|
rs1208771812
|
0.00002
|
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=)
|
rs1306672947
|
0.00002
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=)
|
rs750078603
|
0.00002
|
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=)
|
rs766039758
|
0.00002
|
NM_000263.4(NAGLU):c.417C>T (p.Ser139=)
|
rs766199293
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg)
|
rs750276054
|
0.00002
|
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp)
|
rs368907396
|
0.00002
|
NM_000263.4(NAGLU):c.729T>G (p.Pro243=)
|
rs941869157
|
0.00002
|
NM_000263.4(NAGLU):c.732A>G (p.Ala244=)
|
rs200729468
|
0.00002
|
NM_000263.4(NAGLU):c.764+11G>A
|
rs756517376
|
0.00002
|
NM_000263.4(NAGLU):c.777G>A (p.Gln259=)
|
rs779208941
|
0.00002
|
NM_001005361.3(DNM2):c.1128+12C>T
|
rs537132157
|
0.00002
|
NM_001005361.3(DNM2):c.1196+613C>T
|
rs530195152
|
0.00002
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001005361.3(DNM2):c.1494-18T>A
|
rs1165508486
|
0.00002
|
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)
|
rs753402698
|
0.00002
|
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=)
|
rs538253489
|
0.00002
|
NM_001005361.3(DNM2):c.1671+14G>A
|
rs767768534
|
0.00002
|
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=)
|
rs35365412
|
0.00002
|
NM_001005361.3(DNM2):c.1786G>A (p.Val596Ile)
|
rs763762422
|
0.00002
|
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=)
|
rs767061986
|
0.00002
|
NM_001005361.3(DNM2):c.1893+19C>A
|
rs1327397775
|
0.00002
|
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236
|
0.00002
|
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
|
rs375577182
|
0.00002
|
NM_001005361.3(DNM2):c.2291+5G>A
|
rs747057769
|
0.00002
|
NM_001005361.3(DNM2):c.2309G>A (p.Arg770Gln)
|
rs768817257
|
0.00002
|
NM_001005361.3(DNM2):c.2327A>C (p.His776Pro)
|
rs1277774683
|
0.00002
|
NM_001005361.3(DNM2):c.2328C>G (p.His776Gln)
|
rs766387630
|
0.00002
|
NM_001005361.3(DNM2):c.2337C>A (p.Gly779=)
|
rs759073717
|
0.00002
|
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
|
rs1222869455
|
0.00002
|
NM_001005361.3(DNM2):c.525G>A (p.Thr175=)
|
rs748120401
|
0.00002
|
NM_001005361.3(DNM2):c.552C>T (p.Ser184=)
|
rs769028557
|
0.00002
|
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
|
rs1375606719
|
0.00002
|
NM_001005361.3(DNM2):c.637G>T (p.Gly213Cys)
|
rs767908123
|
0.00002
|
NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser)
|
rs757892950
|
0.00002
|
NM_001005361.3(DNM2):c.678G>A (p.Pro226=)
|
rs746637292
|
0.00002
|
NM_001005361.3(DNM2):c.797G>A (p.Arg266Gln)
|
rs754507545
|
0.00002
|
NM_001005361.3(DNM2):c.801C>T (p.His267=)
|
rs780755800
|
0.00002
|
NM_001005361.3(DNM2):c.812G>A (p.Arg271His)
|
rs781546006
|
0.00002
|
NM_001005361.3(DNM2):c.849+20G>A
|
rs995166192
|
0.00002
|
NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys)
|
rs760254039
|
0.00002
|
NM_001005361.3(DNM2):c.919C>G (p.Leu307Val)
|
rs755458594
|
0.00002
|
NM_001005361.3(DNM2):c.992+12G>A
|
rs374572993
|
0.00002
|
NM_001005373.4(LRSAM1):c.1043+5G>A
|
rs780868977
|
0.00002
|
NM_001005373.4(LRSAM1):c.1058C>G (p.Ser353Cys)
|
rs748144981
|
0.00002
|
NM_001005373.4(LRSAM1):c.1059C>T (p.Ser353=)
|
rs772067610
|
0.00002
|
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln)
|
rs145877456
|
0.00002
|
NM_001005373.4(LRSAM1):c.1147C>T (p.Arg383Cys)
|
rs1006024672
|
0.00002
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
NM_001005373.4(LRSAM1):c.1162G>A (p.Ala388Thr)
|
rs138715791
|
0.00002
|
NM_001005373.4(LRSAM1):c.120G>A (p.Glu40=)
|
rs775125689
|
0.00002
|
NM_001005373.4(LRSAM1):c.1239G>T (p.Leu413Phe)
|
rs751314768
|
0.00002
|
NM_001005373.4(LRSAM1):c.1341G>A (p.Leu447=)
|
rs781611387
|
0.00002
|
NM_001005373.4(LRSAM1):c.1422+7G>A
|
rs769842908
|
0.00002
|
NM_001005373.4(LRSAM1):c.1541T>A (p.Leu514Gln)
|
rs758290295
|
0.00002
|
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys)
|
rs1359751742
|
0.00002
|
NM_001005373.4(LRSAM1):c.1764C>A (p.Pro588=)
|
rs749407044
|
0.00002
|
NM_001005373.4(LRSAM1):c.1773G>A (p.Ala591=)
|
rs377678883
|
0.00002
|
NM_001005373.4(LRSAM1):c.1830+13C>T
|
rs374449653
|
0.00002
|
NM_001005373.4(LRSAM1):c.1849G>T (p.Gly617Cys)
|
rs770758847
|
0.00002
|
NM_001005373.4(LRSAM1):c.2009T>C (p.Val670Ala)
|
rs748185533
|
0.00002
|
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys)
|
rs746213887
|
0.00002
|
NM_001005373.4(LRSAM1):c.23G>A (p.Arg8Gln)
|
rs777784051
|
0.00002
|
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys)
|
rs772739566
|
0.00002
|
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)
|
rs770259167
|
0.00002
|
NM_001005373.4(LRSAM1):c.50G>A (p.Arg17His)
|
rs776039231
|
0.00002
|
NM_001005373.4(LRSAM1):c.695G>A (p.Arg232Gln)
|
rs778692919
|
0.00002
|
NM_001005373.4(LRSAM1):c.698A>C (p.Asp233Ala)
|
rs747872731
|
0.00002
|
NM_001005373.4(LRSAM1):c.717G>A (p.Thr239=)
|
rs769930277
|
0.00002
|
NM_001005373.4(LRSAM1):c.835C>T (p.Arg279Trp)
|
rs766288153
|
0.00002
|
NM_001005373.4(LRSAM1):c.840G>A (p.Glu280=)
|
rs199947399
|
0.00002
|
NM_001005373.4(LRSAM1):c.904-4del
|
rs757987823
|
0.00002
|
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln)
|
rs201329646
|
0.00002
|
NM_001005373.4(LRSAM1):c.955G>A (p.Ala319Thr)
|
rs756492485
|
0.00002
|
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)
|
rs202072835
|
0.00002
|
NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg)
|
rs778931376
|
0.00002
|
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)
|
rs766492897
|
0.00002
|
NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser)
|
rs377310581
|
0.00002
|
NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)
|
rs138515091
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001122955.4(BSCL2):c.404+10G>A
|
rs992580580
|
0.00002
|
NM_001122955.4(BSCL2):c.404+15C>G
|
rs200598473
|
0.00002
|
NM_001122955.4(BSCL2):c.405-20C>T
|
rs778111224
|
0.00002
|
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=)
|
rs780093151
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001122955.4(BSCL2):c.469A>G (p.Lys157Glu)
|
rs773548699
|
0.00002
|
NM_001122955.4(BSCL2):c.610A>G (p.Ile204Val)
|
rs759642646
|
0.00002
|
NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala)
|
rs1291966839
|
0.00002
|
NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=)
|
rs1339749955
|
0.00002
|
NM_001122955.4(BSCL2):c.809G>A (p.Arg270His)
|
rs763884653
|
0.00002
|
NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys)
|
rs759231362
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004
|
0.00002
|
NM_001136472.2(LITAF):c.115C>T (p.Pro39Ser)
|
rs375202318
|
0.00002
|
NM_001136472.2(LITAF):c.351G>C (p.Leu117=)
|
rs372220196
|
0.00002
|
NM_001136472.2(LITAF):c.378-3C>T
|
rs774213197
|
0.00002
|
NM_001136472.2(LITAF):c.410G>A (p.Cys137Tyr)
|
rs144232569
|
0.00002
|
NM_001136472.2(LITAF):c.418G>A (p.Ala140Thr)
|
rs754821950
|
0.00002
|
NM_001136472.2(LITAF):c.420C>T (p.Ala140=)
|
rs750617013
|
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_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
|
rs762901266
|
0.00002
|
NM_001303256.3(MORC2):c.1344G>A (p.Ala448=)
|
rs781067804
|
0.00002
|
NM_001303256.3(MORC2):c.153T>C (p.Tyr51=)
|
rs566259942
|
0.00002
|
NM_001303256.3(MORC2):c.158-10T>G
|
rs543329880
|
0.00002
|
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
rs748092969
|
0.00002
|
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
|
rs778099643
|
0.00002
|
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
|
rs201772330
|
0.00002
|
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser)
|
rs780648306
|
0.00002
|
NM_001303256.3(MORC2):c.2223A>G (p.Ala741=)
|
rs1467334667
|
0.00002
|
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
|
rs746418433
|
0.00002
|
NM_001303256.3(MORC2):c.226+9T>A
|
rs779864060
|
0.00002
|
NM_001303256.3(MORC2):c.227-15T>C
|
rs545157205
|
0.00002
|
NM_001303256.3(MORC2):c.2364C>T (p.Leu788=)
|
rs761189043
|
0.00002
|
NM_001303256.3(MORC2):c.2381-7T>C
|
rs754758325
|
0.00002
|
NM_001303256.3(MORC2):c.238A>G (p.Ser80Gly)
|
rs376351739
|
0.00002
|
NM_001303256.3(MORC2):c.2394C>T (p.His798=)
|
rs749049290
|
0.00002
|
NM_001303256.3(MORC2):c.2559A>G (p.Lys853=)
|
rs773690053
|
0.00002
|
NM_001303256.3(MORC2):c.261G>A (p.Ser87=)
|
rs768689490
|
0.00002
|
NM_001303256.3(MORC2):c.2709C>T (p.Thr903=)
|
rs141374674
|
0.00002
|
NM_001303256.3(MORC2):c.2841+18T>A
|
rs1260253974
|
0.00002
|
NM_001303256.3(MORC2):c.2928C>T (p.Ser976=)
|
rs376140991
|
0.00002
|
NM_001303256.3(MORC2):c.2964C>T (p.Arg988=)
|
rs769387633
|
0.00002
|
NM_001303256.3(MORC2):c.457C>T (p.Arg153Trp)
|
rs774502307
|
0.00002
|
NM_001303256.3(MORC2):c.483T>C (p.Asn161=)
|
rs140735161
|
0.00002
|
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)
|
rs774960940
|
0.00002
|
NM_001303256.3(MORC2):c.684G>A (p.Thr228=)
|
rs534900451
|
0.00002
|
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met)
|
rs764379949
|
0.00002
|
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
|
rs1482880426
|
0.00002
|
NM_001303256.3(MORC2):c.870G>A (p.Gln290=)
|
rs766060409
|
0.00002
|
NM_001303256.3(MORC2):c.905-3C>T
|
rs776944473
|
0.00002
|
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
|
rs369654856
|
0.00002
|
NM_001303256.3(MORC2):c.988-10A>G
|
rs370880177
|
0.00002
|
NM_001365951.3(KIF1B):c.1359C>T (p.Gly453=)
|
rs375200009
|
0.00002
|
NM_001365951.3(KIF1B):c.1539A>T (p.Gly513=)
|
rs757451919
|
0.00002
|
NM_001365951.3(KIF1B):c.1693C>T (p.Arg565Trp)
|
rs758740011
|
0.00002
|
NM_001365951.3(KIF1B):c.1782C>T (p.Ile594=)
|
rs774839409
|
0.00002
|
NM_001365951.3(KIF1B):c.1804C>T (p.Arg602Cys)
|
rs767848662
|
0.00002
|
NM_001365951.3(KIF1B):c.1861+9G>A
|
rs1283855085
|
0.00002
|
NM_001365951.3(KIF1B):c.1863A>G (p.Gly621=)
|
rs780368055
|
0.00002
|
NM_001365951.3(KIF1B):c.187G>A (p.Glu63Lys)
|
rs1025709021
|
0.00002
|
NM_001365951.3(KIF1B):c.1943C>A (p.Pro648His)
|
rs771169398
|
0.00002
|
NM_001365951.3(KIF1B):c.214C>T (p.Arg72Cys)
|
rs953019155
|
0.00002
|
NM_001365951.3(KIF1B):c.224A>G (p.Asn75Ser)
|
rs1048688213
|
0.00002
|
NM_001365951.3(KIF1B):c.2359-17T>C
|
rs779473426
|
0.00002
|
NM_001365951.3(KIF1B):c.2448G>C (p.Glu816Asp)
|
rs146335819
|
0.00002
|
NM_001365951.3(KIF1B):c.252C>T (p.His84=)
|
rs757683684
|
0.00002
|
NM_001365951.3(KIF1B):c.2558G>A (p.Arg853Gln)
|
rs752039135
|
0.00002
|
NM_001365951.3(KIF1B):c.2605G>A (p.Glu869Lys)
|
rs370243199
|
0.00002
|
NM_001365951.3(KIF1B):c.2693G>A (p.Gly898Asp)
|
rs766101107
|
0.00002
|
NM_001365951.3(KIF1B):c.2744C>T (p.Thr915Met)
|
rs749523745
|
0.00002
|
NM_001365951.3(KIF1B):c.2775C>T (p.Asp925=)
|
rs773568203
|
0.00002
|
NM_001365951.3(KIF1B):c.3013T>G (p.Phe1005Val)
|
rs142096228
|
0.00002
|
NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys)
|
rs751434716
|
0.00002
|
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001365951.3(KIF1B):c.364-15A>G
|
rs771929965
|
0.00002
|
NM_001365951.3(KIF1B):c.3717C>T (p.Ser1239=)
|
rs758483036
|
0.00002
|
NM_001365951.3(KIF1B):c.3756C>A (p.Leu1252=)
|
rs1341773631
|
0.00002
|
NM_001365951.3(KIF1B):c.3925A>G (p.Lys1309Glu)
|
rs772177176
|
0.00002
|
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)
|
rs754332251
|
0.00002
|
NM_001365951.3(KIF1B):c.393T>C (p.Asn131=)
|
rs763247738
|
0.00002
|
NM_001365951.3(KIF1B):c.3952C>T (p.Arg1318Cys)
|
rs776039242
|
0.00002
|
NM_001365951.3(KIF1B):c.3953G>A (p.Arg1318His)
|
rs368637007
|
0.00002
|
NM_001365951.3(KIF1B):c.4037C>G (p.Ser1346Cys)
|
rs1377919163
|
0.00002
|
NM_001365951.3(KIF1B):c.4067G>A (p.Arg1356His)
|
rs140769726
|
0.00002
|
NM_001365951.3(KIF1B):c.4304C>T (p.Ser1435Leu)
|
rs776370957
|
0.00002
|
NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)
|
rs367778973
|
0.00002
|
NM_001365951.3(KIF1B):c.4512+15_4512+16insT
|
rs757288188
|
0.00002
|
NM_001365951.3(KIF1B):c.4543C>T (p.Arg1515Cys)
|
rs774445070
|
0.00002
|
NM_001365951.3(KIF1B):c.4590A>T (p.Leu1530Phe)
|
rs751046833
|
0.00002
|
NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=)
|
rs751084365
|
0.00002
|
NM_001365951.3(KIF1B):c.4711A>C (p.Ile1571Leu)
|
rs766977555
|
0.00002
|
NM_001365951.3(KIF1B):c.4722G>A (p.Leu1574=)
|
rs1417200734
|
0.00002
|
NM_001365951.3(KIF1B):c.4947-11C>G
|
rs761028018
|
0.00002
|
NM_001365951.3(KIF1B):c.5028A>G (p.Pro1676=)
|
rs761529721
|
0.00002
|
NM_001365951.3(KIF1B):c.5039G>A (p.Arg1680Gln)
|
rs775552504
|
0.00002
|
NM_001365951.3(KIF1B):c.5053G>A (p.Glu1685Lys)
|
rs764494187
|
0.00002
|
NM_001365951.3(KIF1B):c.5097-8G>A
|
rs774748771
|
0.00002
|
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)
|
rs768058092
|
0.00002
|
NM_001365951.3(KIF1B):c.5423G>A (p.Arg1808His)
|
rs770215708
|
0.00002
|
NM_001365951.3(KIF1B):c.654C>T (p.His218=)
|
rs142209186
|
0.00002
|
NM_001365951.3(KIF1B):c.668T>C (p.Ile223Thr)
|
rs923434398
|
0.00002
|
NM_001365951.3(KIF1B):c.720+8A>G
|
rs751246033
|
0.00002
|
NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg)
|
rs868622074
|
0.00002
|
NM_001365951.3(KIF1B):c.858C>T (p.Ala286=)
|
rs371416635
|
0.00002
|
NM_001365951.3(KIF1B):c.864+17A>G
|
rs528812490
|
0.00002
|
NM_001370298.3(FGD4):c.1248-3C>A
|
rs755168497
|
0.00002
|
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)
|
rs773609461
|
0.00002
|
NM_001370298.3(FGD4):c.1339A>G (p.Met447Val)
|
rs368451193
|
0.00002
|
NM_001370298.3(FGD4):c.1463G>A (p.Arg488Gln)
|
rs138762438
|
0.00002
|
NM_001370298.3(FGD4):c.1536T>G (p.Asp512Glu)
|
rs778471949
|
0.00002
|
NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln)
|
rs749692745
|
0.00002
|
NM_001370298.3(FGD4):c.1657A>G (p.Ile553Val)
|
rs1060501903
|
0.00002
|
NM_001370298.3(FGD4):c.2067A>G (p.Arg689=)
|
rs1488014686
|
0.00002
|
NM_001370298.3(FGD4):c.2171A>G (p.Tyr724Cys)
|
rs759496422
|
0.00002
|
NM_001370298.3(FGD4):c.2172+8A>T
|
rs761674021
|
0.00002
|
NM_001370298.3(FGD4):c.2313+11T>C
|
rs200030176
|
0.00002
|
NM_001370298.3(FGD4):c.2429T>C (p.Val810Ala)
|
rs776258252
|
0.00002
|
NM_001370298.3(FGD4):c.431C>G (p.Ala144Gly)
|
rs1161650860
|
0.00002
|
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=)
|
rs772665813
|
0.00002
|
NM_001376.5(DYNC1H1):c.10198-20T>C
|
rs780287500
|
0.00002
|
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)
|
rs778115137
|
0.00002
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
NM_001376.5(DYNC1H1):c.10608A>C (p.Leu3536=)
|
rs1034994263
|
0.00002
|
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp)
|
rs1332342693
|
0.00002
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
NM_001376.5(DYNC1H1):c.11022G>A (p.Ser3674=)
|
rs139719984
|
0.00002
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val)
|
rs771355909
|
0.00002
|
NM_001376.5(DYNC1H1):c.11361G>A (p.Thr3787=)
|
rs145320071
|
0.00002
|
NM_001376.5(DYNC1H1):c.11460+7G>A
|
rs1474620810
|
0.00002
|
NM_001376.5(DYNC1H1):c.11461-3C>T
|
rs776752310
|
0.00002
|
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=)
|
rs372511563
|
0.00002
|
NM_001376.5(DYNC1H1):c.11562G>A (p.Gln3854=)
|
rs375751871
|
0.00002
|
NM_001376.5(DYNC1H1):c.11595+20C>T
|
rs753442936
|
0.00002
|
NM_001376.5(DYNC1H1):c.11686G>A (p.Val3896Met)
|
rs567629350
|
0.00002
|
NM_001376.5(DYNC1H1):c.11725T>C (p.Leu3909=)
|
rs927269531
|
0.00002
|
NM_001376.5(DYNC1H1):c.11823T>G (p.Leu3941=)
|
rs368243780
|
0.00002
|
NM_001376.5(DYNC1H1):c.11866-4A>T
|
rs766735095
|
0.00002
|
NM_001376.5(DYNC1H1):c.11926G>C (p.Glu3976Gln)
|
rs1459731964
|
0.00002
|
NM_001376.5(DYNC1H1):c.11942-7G>A
|
rs769654088
|
0.00002
|
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
|
rs370026529
|
0.00002
|
NM_001376.5(DYNC1H1):c.12213C>T (p.Ile4071=)
|
rs746950373
|
0.00002
|
NM_001376.5(DYNC1H1):c.12215-20A>G
|
rs903336384
|
0.00002
|
NM_001376.5(DYNC1H1):c.12330G>A (p.Glu4110=)
|
rs182070792
|
0.00002
|
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)
|
rs749647281
|
0.00002
|
NM_001376.5(DYNC1H1):c.12480G>A (p.Thr4160=)
|
rs531519870
|
0.00002
|
NM_001376.5(DYNC1H1):c.12687C>T (p.Gly4229=)
|
rs994411940
|
0.00002
|
NM_001376.5(DYNC1H1):c.12797A>G (p.Asn4266Ser)
|
rs760229878
|
0.00002
|
NM_001376.5(DYNC1H1):c.12865G>A (p.Asp4289Asn)
|
rs368476290
|
0.00002
|
NM_001376.5(DYNC1H1):c.12951G>A (p.Thr4317=)
|
rs141273501
|
0.00002
|
NM_001376.5(DYNC1H1):c.13071C>T (p.Tyr4357=)
|
rs763227557
|
0.00002
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609
|
0.00002
|
NM_001376.5(DYNC1H1):c.13091C>T (p.Thr4364Met)
|
rs750890352
|
0.00002
|
NM_001376.5(DYNC1H1):c.13138C>T (p.Leu4380=)
|
rs746916728
|
0.00002
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
rs201971718
|
0.00002
|
NM_001376.5(DYNC1H1):c.13242G>A (p.Glu4414=)
|
rs772150327
|
0.00002
|
NM_001376.5(DYNC1H1):c.13278C>T (p.Asp4426=)
|
rs777098264
|
0.00002
|
NM_001376.5(DYNC1H1):c.13314C>T (p.Cys4438=)
|
rs750291750
|
0.00002
|
NM_001376.5(DYNC1H1):c.13473C>T (p.Asn4491=)
|
rs749739195
|
0.00002
|
NM_001376.5(DYNC1H1):c.13524C>T (p.His4508=)
|
rs565247634
|
0.00002
|
NM_001376.5(DYNC1H1):c.1363G>A (p.Ala455Thr)
|
rs1247065537
|
0.00002
|
NM_001376.5(DYNC1H1):c.13685-10C>T
|
rs764347151
|
0.00002
|
NM_001376.5(DYNC1H1):c.13725G>A (p.Leu4575=)
|
rs200002869
|
0.00002
|
NM_001376.5(DYNC1H1):c.13813-12C>T
|
rs759037347
|
0.00002
|
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn)
|
rs777919963
|
0.00002
|
NM_001376.5(DYNC1H1):c.153G>T (p.Ala51=)
|
rs1438924183
|
0.00002
|
NM_001376.5(DYNC1H1):c.1545A>G (p.Ala515=)
|
rs145784659
|
0.00002
|
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
|
rs775473086
|
0.00002
|
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met)
|
rs563050462
|
0.00002
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694
|
0.00002
|
NM_001376.5(DYNC1H1):c.2133C>T (p.Leu711=)
|
rs774360588
|
0.00002
|
NM_001376.5(DYNC1H1):c.2277C>T (p.Arg759=)
|
rs577000800
|
0.00002
|
NM_001376.5(DYNC1H1):c.2289G>A (p.Ala763=)
|
rs763184509
|
0.00002
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
|
rs752495590
|
0.00002
|
NM_001376.5(DYNC1H1):c.2769G>A (p.Thr923=)
|
rs766285625
|
0.00002
|
NM_001376.5(DYNC1H1):c.2869-11T>C
|
rs368250311
|
0.00002
|
NM_001376.5(DYNC1H1):c.3016-17C>T
|
rs372920554
|
0.00002
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser)
|
rs1060502206
|
0.00002
|
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=)
|
rs772761222
|
0.00002
|
NM_001376.5(DYNC1H1):c.344+10A>G
|
rs376828239
|
0.00002
|
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=)
|
rs776275624
|
0.00002
|
NM_001376.5(DYNC1H1):c.3759C>T (p.Arg1253=)
|
rs374582145
|
0.00002
|
NM_001376.5(DYNC1H1):c.3765C>T (p.Thr1255=)
|
rs150953878
|
0.00002
|
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn)
|
rs760571415
|
0.00002
|
NM_001376.5(DYNC1H1):c.3876C>T (p.Asp1292=)
|
rs745852574
|
0.00002
|
NM_001376.5(DYNC1H1):c.38C>T (p.Ser13Leu)
|
rs772158466
|
0.00002
|
NM_001376.5(DYNC1H1):c.3961-5C>T
|
rs759907778
|
0.00002
|
NM_001376.5(DYNC1H1):c.4075-5G>A
|
rs750127672
|
0.00002
|
NM_001376.5(DYNC1H1):c.407G>A (p.Arg136Gln)
|
rs996476189
|
0.00002
|
NM_001376.5(DYNC1H1):c.4127G>A (p.Arg1376Gln)
|
rs778731013
|
0.00002
|
NM_001376.5(DYNC1H1):c.4185+16C>T
|
rs375613946
|
0.00002
|
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
|
rs776226690
|
0.00002
|
NM_001376.5(DYNC1H1):c.4317G>A (p.Leu1439=)
|
rs1317025230
|
0.00002
|
NM_001376.5(DYNC1H1):c.4332G>A (p.Ala1444=)
|
rs767574253
|
0.00002
|
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile)
|
rs367614843
|
0.00002
|
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)
|
rs775825001
|
0.00002
|
NM_001376.5(DYNC1H1):c.4855C>T (p.Leu1619=)
|
rs761039840
|
0.00002
|
NM_001376.5(DYNC1H1):c.5050-11A>G
|
rs368217526
|
0.00002
|
NM_001376.5(DYNC1H1):c.5074A>G (p.Ile1692Val)
|
rs775895683
|
0.00002
|
NM_001376.5(DYNC1H1):c.5175G>A (p.Glu1725=)
|
rs1369884337
|
0.00002
|
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)
|
rs755482182
|
0.00002
|
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr)
|
rs144147463
|
0.00002
|
NM_001376.5(DYNC1H1):c.5317G>A (p.Gly1773Arg)
|
rs1489046941
|
0.00002
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00002
|
NM_001376.5(DYNC1H1):c.5520C>A (p.Ser1840Arg)
|
rs577512264
|
0.00002
|
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)
|
rs780744467
|
0.00002
|
NM_001376.5(DYNC1H1):c.5717-8T>G
|
rs748085549
|
0.00002
|
NM_001376.5(DYNC1H1):c.5904C>T (p.Leu1968=)
|
rs770335425
|
0.00002
|
NM_001376.5(DYNC1H1):c.6069G>A (p.Ala2023=)
|
rs536211119
|
0.00002
|
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
|
rs138702876
|
0.00002
|
NM_001376.5(DYNC1H1):c.6207C>T (p.Ile2069=)
|
rs764354743
|
0.00002
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
NM_001376.5(DYNC1H1):c.6575C>T (p.Thr2192Ile)
|
rs749317390
|
0.00002
|
NM_001376.5(DYNC1H1):c.6660G>A (p.Leu2220=)
|
rs567417919
|
0.00002
|
NM_001376.5(DYNC1H1):c.6704G>A (p.Arg2235His)
|
rs765956720
|
0.00002
|
NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)
|
rs1301539761
|
0.00002
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
NM_001376.5(DYNC1H1):c.7113C>T (p.Thr2371=)
|
rs745348478
|
0.00002
|
NM_001376.5(DYNC1H1):c.7147C>T (p.Arg2383Cys)
|
rs773952714
|
0.00002
|
NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)
|
rs566204008
|
0.00002
|
NM_001376.5(DYNC1H1):c.7437C>T (p.Phe2479=)
|
rs757950114
|
0.00002
|
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
|
rs780160519
|
0.00002
|
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=)
|
rs747067301
|
0.00002
|
NM_001376.5(DYNC1H1):c.7878T>C (p.Thr2626=)
|
rs753109533
|
0.00002
|
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
|
rs773460120
|
0.00002
|
NM_001376.5(DYNC1H1):c.8291C>T (p.Thr2764Met)
|
rs781036111
|
0.00002
|
NM_001376.5(DYNC1H1):c.840C>T (p.Asn280=)
|
rs775490854
|
0.00002
|
NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp)
|
rs762494017
|
0.00002
|
NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)
|
rs150520534
|
0.00002
|
NM_001376.5(DYNC1H1):c.8703T>C (p.Tyr2901=)
|
rs755411424
|
0.00002
|
NM_001376.5(DYNC1H1):c.8724G>A (p.Pro2908=)
|
rs372672149
|
0.00002
|
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val)
|
rs1187943520
|
0.00002
|
NM_001376.5(DYNC1H1):c.9000A>G (p.Leu3000=)
|
rs754834522
|
0.00002
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296
|
0.00002
|
NM_001376.5(DYNC1H1):c.9189C>T (p.His3063=)
|
rs373124911
|
0.00002
|
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=)
|
rs752518392
|
0.00002
|
NM_001376.5(DYNC1H1):c.9263+4C>T
|
rs375319205
|
0.00002
|
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=)
|
rs371538443
|
0.00002
|
NM_001376.5(DYNC1H1):c.9561C>T (p.Phe3187=)
|
rs2048488005
|
0.00002
|
NM_001376.5(DYNC1H1):c.9576C>T (p.Ser3192=)
|
rs374593458
|
0.00002
|
NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met)
|
rs765825369
|
0.00002
|
NM_001540.5(HSPB1):c.138A>G (p.Leu46=)
|
rs757180608
|
0.00002
|
NM_001540.5(HSPB1):c.162C>T (p.Tyr54=)
|
rs770285235
|
0.00002
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu)
|
rs1433396777
|
0.00002
|
NM_001540.5(HSPB1):c.339C>G (p.Thr113=)
|
rs751064405
|
0.00002
|
NM_001540.5(HSPB1):c.351G>A (p.Val117=)
|
rs1279432561
|
0.00002
|
NM_001540.5(HSPB1):c.365-4A>G
|
rs373485993
|
0.00002
|
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn)
|
rs755233365
|
0.00002
|
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
|
rs1173242313
|
0.00002
|
NM_001540.5(HSPB1):c.498G>A (p.Glu166=)
|
rs148357753
|
0.00002
|
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)
|
rs147500292
|
0.00002
|
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422
|
0.00002
|
NM_001605.3(AARS1):c.1064A>G (p.Gln355Arg)
|
rs1597441035
|
0.00002
|
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
|
rs769182022
|
0.00002
|
NM_001605.3(AARS1):c.1432C>G (p.Leu478Val)
|
rs767099595
|
0.00002
|
NM_001605.3(AARS1):c.145-4T>G
|
rs771322532
|
0.00002
|
NM_001605.3(AARS1):c.1529G>A (p.Arg510His)
|
rs202176955
|
0.00002
|
NM_001605.3(AARS1):c.1645G>A (p.Val549Met)
|
rs558645844
|
0.00002
|
NM_001605.3(AARS1):c.1704C>T (p.Val568=)
|
rs757658801
|
0.00002
|
NM_001605.3(AARS1):c.1881A>G (p.Ser627=)
|
rs1486965038
|
0.00002
|
NM_001605.3(AARS1):c.1936A>G (p.Thr646Ala)
|
rs763252550
|
0.00002
|
NM_001605.3(AARS1):c.2003C>T (p.Thr668Ile)
|
rs773483658
|
0.00002
|
NM_001605.3(AARS1):c.2070T>C (p.Tyr690=)
|
rs754266971
|
0.00002
|
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)
|
rs754391789
|
0.00002
|
NM_001605.3(AARS1):c.2178-17T>C
|
rs758490328
|
0.00002
|
NM_001605.3(AARS1):c.2287-15G>A
|
rs774569911
|
0.00002
|
NM_001605.3(AARS1):c.2361A>C (p.Pro787=)
|
rs768782095
|
0.00002
|
NM_001605.3(AARS1):c.2401-15G>A
|
rs763386228
|
0.00002
|
NM_001605.3(AARS1):c.2446C>T (p.Arg816Trp)
|
rs778478316
|
0.00002
|
NM_001605.3(AARS1):c.2460A>T (p.Lys820Asn)
|
rs759906749
|
0.00002
|
NM_001605.3(AARS1):c.2505C>T (p.Ala835=)
|
rs769571173
|
0.00002
|
NM_001605.3(AARS1):c.2547C>T (p.Ile849=)
|
rs746615745
|
0.00002
|
NM_001605.3(AARS1):c.2593G>A (p.Gly865Ser)
|
rs757295540
|
0.00002
|
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)
|
rs374478964
|
0.00002
|
NM_001605.3(AARS1):c.2603C>T (p.Ala868Val)
|
rs759415214
|
0.00002
|
NM_001605.3(AARS1):c.2754G>A (p.Glu918=)
|
rs754523456
|
0.00002
|
NM_001605.3(AARS1):c.278A>G (p.Tyr93Cys)
|
rs1251929931
|
0.00002
|
NM_001605.3(AARS1):c.333+17A>G
|
rs370831078
|
0.00002
|
NM_001605.3(AARS1):c.360A>G (p.Glu120=)
|
rs1175499706
|
0.00002
|
NM_001605.3(AARS1):c.366C>T (p.Leu122=)
|
rs769023747
|
0.00002
|
NM_001605.3(AARS1):c.618G>T (p.Gln206His)
|
rs139785247
|
0.00002
|
NM_001605.3(AARS1):c.630T>C (p.Asn210=)
|
rs561149621
|
0.00002
|
NM_001605.3(AARS1):c.671+12T>C
|
rs375862322
|
0.00002
|
NM_001605.3(AARS1):c.732G>A (p.Leu244=)
|
rs967485459
|
0.00002
|
NM_001605.3(AARS1):c.80A>G (p.His27Arg)
|
rs77753666
|
0.00002
|
NM_001605.3(AARS1):c.817-7T>C
|
rs770186013
|
0.00002
|
NM_001605.3(AARS1):c.823G>A (p.Gly275Ser)
|
rs747142680
|
0.00002
|
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
|
rs914414911
|
0.00002
|
NM_001605.3(AARS1):c.84G>A (p.Ser28=)
|
rs781488034
|
0.00002
|
NM_001605.3(AARS1):c.95T>C (p.Ile32Thr)
|
rs751721557
|
0.00002
|
NM_002047.4(GARS1):c.-6A>G
|
rs747409671
|
0.00002
|
NM_002047.4(GARS1):c.108C>T (p.Leu36=)
|
rs1166263515
|
0.00002
|
NM_002047.4(GARS1):c.1108G>C (p.Asp370His)
|
rs769026859
|
0.00002
|
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr)
|
rs759499740
|
0.00002
|
NM_002047.4(GARS1):c.1138G>A (p.Ala380Thr)
|
rs772145843
|
0.00002
|
NM_002047.4(GARS1):c.1140C>G (p.Ala380=)
|
rs374980030
|
0.00002
|
NM_002047.4(GARS1):c.128C>T (p.Pro43Leu)
|
rs570608946
|
0.00002
|
NM_002047.4(GARS1):c.12G>A (p.Pro4=)
|
rs775650014
|
0.00002
|
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=)
|
rs901778260
|
0.00002
|
NM_002047.4(GARS1):c.1533T>C (p.Asp511=)
|
rs1388554818
|
0.00002
|
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)
|
rs753947676
|
0.00002
|
NM_002047.4(GARS1):c.1581T>C (p.Ile527=)
|
rs960876782
|
0.00002
|
NM_002047.4(GARS1):c.1817G>A (p.Ser606Asn)
|
rs773316961
|
0.00002
|
NM_002047.4(GARS1):c.1903+19G>A
|
rs1051143976
|
0.00002
|
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser)
|
rs776478280
|
0.00002
|
NM_002047.4(GARS1):c.403G>T (p.Asp135Tyr)
|
rs778553007
|
0.00002
|
NM_002047.4(GARS1):c.534C>T (p.Ile178=)
|
rs774732829
|
0.00002
|
NM_002047.4(GARS1):c.582T>C (p.His194=)
|
rs753444153
|
0.00002
|
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys)
|
rs769780656
|
0.00002
|
NM_002047.4(GARS1):c.786T>C (p.Asn262=)
|
rs886043231
|
0.00002
|
NM_002180.3(IGHMBP2):c.1060+11G>A
|
rs761888334
|
0.00002
|
NM_002180.3(IGHMBP2):c.1061-19G>A
|
rs775305272
|
0.00002
|
NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=)
|
rs529978266
|
0.00002
|
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=)
|
rs755300047
|
0.00002
|
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=)
|
rs749110357
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser)
|
rs1004816448
|
0.00002
|
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
|
rs373649545
|
0.00002
|
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val)
|
rs139000973
|
0.00002
|
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
|
rs771485988
|
0.00002
|
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
|
rs776158939
|
0.00002
|
NM_002180.3(IGHMBP2):c.1538-19G>A
|
rs199911239
|
0.00002
|
NM_002180.3(IGHMBP2):c.1538-4C>G
|
rs757915735
|
0.00002
|
NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile)
|
rs373828321
|
0.00002
|
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys)
|
rs374185933
|
0.00002
|
NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val)
|
rs772592429
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val)
|
rs764900781
|
0.00002
|
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp)
|
rs746014167
|
0.00002
|
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys)
|
rs1448152495
|
0.00002
|
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys)
|
rs761885813
|
0.00002
|
NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=)
|
rs188719450
|
0.00002
|
NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=)
|
rs755468547
|
0.00002
|
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu)
|
rs763014565
|
0.00002
|
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
|
rs765230277
|
0.00002
|
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val)
|
rs754473710
|
0.00002
|
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806
|
0.00002
|
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser)
|
rs757006949
|
0.00002
|
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu)
|
rs200072932
|
0.00002
|
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser)
|
rs774483778
|
0.00002
|
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
|
rs759271458
|
0.00002
|
NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=)
|
rs764107109
|
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.2784+1G>T
|
rs797044803
|
0.00002
|
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp)
|
rs373943338
|
0.00002
|
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=)
|
rs377433281
|
0.00002
|
NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=)
|
rs890113569
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=)
|
rs150937080
|
0.00002
|
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr)
|
rs548256623
|
0.00002
|
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile)
|
rs375694606
|
0.00002
|
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys)
|
rs374952782
|
0.00002
|
NM_002180.3(IGHMBP2):c.639T>C (p.His213=)
|
rs764495455
|
0.00002
|
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
|
rs745416724
|
0.00002
|
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val)
|
rs377678376
|
0.00002
|
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)
|
rs139497493
|
0.00002
|
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=)
|
rs771900045
|
0.00002
|
NM_003680.4(YARS1):c.1042+3A>C
|
rs772446297
|
0.00002
|
NM_003680.4(YARS1):c.1080A>G (p.Pro360=)
|
rs752514117
|
0.00002
|
NM_003680.4(YARS1):c.1140+18C>T
|
rs772357565
|
0.00002
|
NM_003680.4(YARS1):c.1141-9C>G
|
rs761211081
|
0.00002
|
NM_003680.4(YARS1):c.1212C>T (p.Ser404=)
|
rs778469199
|
0.00002
|
NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu)
|
rs763636325
|
0.00002
|
NM_003680.4(YARS1):c.1243C>A (p.Leu415Met)
|
rs774750132
|
0.00002
|
NM_003680.4(YARS1):c.1303G>A (p.Glu435Lys)
|
rs777567617
|
0.00002
|
NM_003680.4(YARS1):c.1487A>G (p.Lys496Arg)
|
rs768160751
|
0.00002
|
NM_003680.4(YARS1):c.1506C>T (p.Ile502=)
|
rs749596742
|
0.00002
|
NM_003680.4(YARS1):c.209C>T (p.Thr70Ile)
|
rs771657997
|
0.00002
|
NM_003680.4(YARS1):c.213T>A (p.Ile71=)
|
rs778295682
|
0.00002
|
NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)
|
rs776952611
|
0.00002
|
NM_003680.4(YARS1):c.310A>G (p.Met104Val)
|
rs763185222
|
0.00002
|
NM_003680.4(YARS1):c.380+13T>C
|
rs1226490373
|
0.00002
|
NM_003680.4(YARS1):c.45C>T (p.Thr15=)
|
rs1488727812
|
0.00002
|
NM_003680.4(YARS1):c.684+3A>G
|
rs375332060
|
0.00002
|
NM_003680.4(YARS1):c.807T>C (p.Phe269=)
|
rs755856720
|
0.00002
|
NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165
|
0.00002
|
NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro)
|
rs775104487
|
0.00002
|
NM_004637.6(RAB7A):c.183A>C (p.Ile61=)
|
rs376642691
|
0.00002
|
NM_004637.6(RAB7A):c.504G>A (p.Thr168=)
|
rs929339942
|
0.00002
|
NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr)
|
rs750766845
|
0.00002
|
NM_004637.6(RAB7A):c.529-14G>C
|
rs773589267
|
0.00002
|
NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn)
|
rs756968558
|
0.00002
|
NM_004637.6(RAB7A):c.6C>G (p.Thr2=)
|
rs1053225393
|
0.00002
|
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)
|
rs916967743
|
0.00002
|
NM_004990.4(MARS1):c.1201G>A (p.Val401Met)
|
rs774447812
|
0.00002
|
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
|
rs751129809
|
0.00002
|
NM_004990.4(MARS1):c.1635+11C>A
|
rs758827704
|
0.00002
|
NM_004990.4(MARS1):c.1636-7C>G
|
rs563778768
|
0.00002
|
NM_004990.4(MARS1):c.1794C>T (p.Arg598=)
|
rs758046761
|
0.00002
|
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
|
rs754546247
|
0.00002
|
NM_004990.4(MARS1):c.201-3C>T
|
rs374880860
|
0.00002
|
NM_004990.4(MARS1):c.2163G>C (p.Val721=)
|
rs762587995
|
0.00002
|
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
|
rs770756933
|
0.00002
|
NM_004990.4(MARS1):c.2285C>T (p.Thr762Met)
|
rs776051748
|
0.00002
|
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val)
|
rs559255944
|
0.00002
|
NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr)
|
rs758314169
|
0.00002
|
NM_004990.4(MARS1):c.2447G>A (p.Arg816His)
|
rs150482634
|
0.00002
|
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
|
rs758051760
|
0.00002
|
NM_004990.4(MARS1):c.2471C>T (p.Thr824Met)
|
rs759262797
|
0.00002
|
NM_004990.4(MARS1):c.2511C>G (p.Ala837=)
|
rs780483586
|
0.00002
|
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
|
rs773914259
|
0.00002
|
NM_004990.4(MARS1):c.2557-14C>T
|
rs935467477
|
0.00002
|
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)
|
rs958058841
|
0.00002
|
NM_004990.4(MARS1):c.280-13C>T
|
rs375281035
|
0.00002
|
NM_004990.4(MARS1):c.31G>A (p.Gly11Ser)
|
rs750309467
|
0.00002
|
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
rs376785642
|
0.00002
|
NM_004990.4(MARS1):c.496C>T (p.Leu166=)
|
rs760702485
|
0.00002
|
NM_004990.4(MARS1):c.66C>T (p.Ala22=)
|
rs200471304
|
0.00002
|
NM_004990.4(MARS1):c.887+12T>G
|
rs1027867373
|
0.00002
|
NM_004990.4(MARS1):c.887+16C>T
|
rs767628528
|
0.00002
|
NM_005391.5(PDK3):c.1077+8G>A
|
rs370736936
|
0.00002
|
NM_005391.5(PDK3):c.1126G>A (p.Ala376Thr)
|
rs781166988
|
0.00002
|
NM_005391.5(PDK3):c.1149G>A (p.Thr383=)
|
rs768286680
|
0.00002
|
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val)
|
rs375862167
|
0.00002
|
NM_005391.5(PDK3):c.132T>C (p.Thr44=)
|
rs200045909
|
0.00002
|
NM_005391.5(PDK3):c.576C>T (p.Asn192=)
|
rs756934374
|
0.00002
|
NM_005391.5(PDK3):c.582G>A (p.Ala194=)
|
rs144345856
|
0.00002
|
NM_005391.5(PDK3):c.673+10A>G
|
rs750141483
|
0.00002
|
NM_005391.5(PDK3):c.674-3C>T
|
rs777647536
|
0.00002
|
NM_005391.5(PDK3):c.687C>T (p.Asp229=)
|
rs747154414
|
0.00002
|
NM_005391.5(PDK3):c.765G>A (p.Ala255=)
|
rs1277836754
|
0.00002
|
NM_005391.5(PDK3):c.995G>A (p.Arg332His)
|
rs368054026
|
0.00002
|
NM_006096.4(NDRG1):c.100-3C>T
|
rs775475505
|
0.00002
|
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)
|
rs777244818
|
0.00002
|
NM_006096.4(NDRG1):c.1081C>T (p.Arg361Cys)
|
rs779065972
|
0.00002
|
NM_006096.4(NDRG1):c.1133C>T (p.Ser378Leu)
|
rs373815729
|
0.00002
|
NM_006096.4(NDRG1):c.1152C>T (p.Ser384=)
|
rs863224413
|
0.00002
|
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)
|
rs768918074
|
0.00002
|
NM_006096.4(NDRG1):c.1167C>T (p.Ser389=)
|
rs769654928
|
0.00002
|
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)
|
rs750933446
|
0.00002
|
NM_006096.4(NDRG1):c.30C>T (p.Leu10=)
|
rs758205425
|
0.00002
|
NM_006096.4(NDRG1):c.321C>T (p.Pro107=)
|
rs1403681249
|
0.00002
|
NM_006096.4(NDRG1):c.352C>T (p.Leu118=)
|
rs559877336
|
0.00002
|
NM_006096.4(NDRG1):c.427G>A (p.Ala143Thr)
|
rs776830575
|
0.00002
|
NM_006096.4(NDRG1):c.451-8A>G
|
rs1306905217
|
0.00002
|
NM_006096.4(NDRG1):c.48G>A (p.Leu16=)
|
rs767603105
|
0.00002
|
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
rs781381539
|
0.00002
|
NM_006096.4(NDRG1):c.595-5T>C
|
rs1418098888
|
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.6T>G (p.Ser2=)
|
rs1195247473
|
0.00002
|
NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys)
|
rs772268356
|
0.00002
|
NM_006096.4(NDRG1):c.705C>T (p.Arg235=)
|
rs528436514
|
0.00002
|
NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu)
|
rs748984505
|
0.00002
|
NM_006096.4(NDRG1):c.808-6G>T
|
rs779633074
|
0.00002
|
NM_006096.4(NDRG1):c.861G>A (p.Ala287=)
|
rs150101908
|
0.00002
|
NM_006096.4(NDRG1):c.894G>A (p.Pro298=)
|
rs368061370
|
0.00002
|
NM_006096.4(NDRG1):c.904G>A (p.Ala302Thr)
|
rs373637595
|
0.00002
|
NM_006158.5(NEFL):c.1011G>A (p.Glu337=)
|
rs761206907
|
0.00002
|
NM_006158.5(NEFL):c.1045-17T>A
|
rs752885562
|
0.00002
|
NM_006158.5(NEFL):c.1170-19C>T
|
rs762116919
|
0.00002
|
NM_006158.5(NEFL):c.1261C>A (p.Arg421=)
|
rs191346286
|
0.00002
|
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
|
rs758305388
|
0.00002
|
NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys)
|
rs749256770
|
0.00002
|
NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys)
|
rs267601870
|
0.00002
|
NM_006158.5(NEFL):c.264G>A (p.Thr88=)
|
rs372795557
|
0.00002
|
NM_006158.5(NEFL):c.279G>A (p.Gln93=)
|
rs60737254
|
0.00002
|
NM_006158.5(NEFL):c.30C>T (p.Tyr10=)
|
rs1484620251
|
0.00002
|
NM_006158.5(NEFL):c.45G>A (p.Lys15=)
|
rs62636518
|
0.00002
|
NM_006158.5(NEFL):c.492C>G (p.Arg164=)
|
rs1229429321
|
0.00002
|
NM_006158.5(NEFL):c.528G>A (p.Ala176=)
|
rs760320750
|
0.00002
|
NM_006158.5(NEFL):c.532T>A (p.Tyr178Asn)
|
rs550216338
|
0.00002
|
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg)
|
rs1170226456
|
0.00002
|
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)
|
rs927119938
|
0.00002
|
NM_014365.3(HSPB8):c.147C>T (p.Pro49=)
|
rs371236491
|
0.00002
|
NM_014365.3(HSPB8):c.164G>A (p.Arg55His)
|
rs752911264
|
0.00002
|
NM_014365.3(HSPB8):c.193A>C (p.Arg65=)
|
rs778903217
|
0.00002
|
NM_014365.3(HSPB8):c.255C>T (p.Gly85=)
|
rs535698657
|
0.00002
|
NM_014365.3(HSPB8):c.65G>A (p.Arg22Gln)
|
rs747381453
|
0.00002
|
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys)
|
rs760770423
|
0.00002
|
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly)
|
rs535554973
|
0.00002
|
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln)
|
rs141309562
|
0.00002
|
NM_014845.6(FIG4):c.1427G>A (p.Arg476His)
|
rs192823053
|
0.00002
|
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)
|
rs747284213
|
0.00002
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
rs776928002
|
0.00002
|
NM_014845.6(FIG4):c.1620C>T (p.Thr540=)
|
rs746367416
|
0.00002
|
NM_014845.6(FIG4):c.1728A>G (p.Arg576=)
|
rs1006163300
|
0.00002
|
NM_014845.6(FIG4):c.1769C>T (p.Ser590Phe)
|
rs773166475
|
0.00002
|
NM_014845.6(FIG4):c.1809G>A (p.Gly603=)
|
rs148280593
|
0.00002
|
NM_014845.6(FIG4):c.1932A>G (p.Pro644=)
|
rs767919652
|
0.00002
|
NM_014845.6(FIG4):c.1949-15C>T
|
rs778444771
|
0.00002
|
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala)
|
rs766031746
|
0.00002
|
NM_014845.6(FIG4):c.2377-10T>A
|
rs9481005
|
0.00002
|
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys)
|
rs370293982
|
0.00002
|
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val)
|
rs781056036
|
0.00002
|
NM_014845.6(FIG4):c.2547-4A>G
|
rs886060985
|
0.00002
|
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly)
|
rs533419433
|
0.00002
|
NM_014845.6(FIG4):c.2661dup (p.Gln888fs)
|
rs778839285
|
0.00002
|
NM_014845.6(FIG4):c.2668C>T (p.Leu890=)
|
rs922260214
|
0.00002
|
NM_014845.6(FIG4):c.2685C>T (p.Ser895=)
|
rs764459799
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr)
|
rs1162967341
|
0.00002
|
NM_014845.6(FIG4):c.289+17C>T
|
rs368282150
|
0.00002
|
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
|
rs372854425
|
0.00002
|
NM_014845.6(FIG4):c.366T>C (p.His122=)
|
rs772376305
|
0.00002
|
NM_014845.6(FIG4):c.447-14_447-13insG
|
rs1312654340
|
0.00002
|
NM_014845.6(FIG4):c.447-19T>C
|
rs1562651409
|
0.00002
|
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
|
rs1455052760
|
0.00002
|
NM_014845.6(FIG4):c.497+9G>A
|
rs759409330
|
0.00002
|
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713
|
0.00002
|
NM_014845.6(FIG4):c.645C>T (p.Ser215=)
|
rs751619327
|
0.00002
|
NM_014845.6(FIG4):c.731G>A (p.Arg244His)
|
rs768175169
|
0.00002
|
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
|
rs762123072
|
0.00002
|
NM_014845.6(FIG4):c.877-2A>C
|
rs143956557
|
0.00002
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
NM_014845.6(FIG4):c.974G>C (p.Arg325Thr)
|
rs1060501400
|
0.00002
|
NM_014874.4(MFN2):c.1061T>C (p.Val354Ala)
|
rs1057518235
|
0.00002
|
NM_014874.4(MFN2):c.1112C>T (p.Ala371Val)
|
rs201675158
|
0.00002
|
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys)
|
rs186448929
|
0.00002
|
NM_014874.4(MFN2):c.1238A>C (p.Gln413Pro)
|
rs375335641
|
0.00002
|
NM_014874.4(MFN2):c.1257T>G (p.Ile419Met)
|
rs749893944
|
0.00002
|
NM_014874.4(MFN2):c.1305C>T (p.Ala435=)
|
rs1374507919
|
0.00002
|
NM_014874.4(MFN2):c.1402C>T (p.Arg468Cys)
|
rs746852710
|
0.00002
|
NM_014874.4(MFN2):c.1480C>A (p.Gln494Lys)
|
rs141775063
|
0.00002
|
NM_014874.4(MFN2):c.1522T>A (p.Ser508Thr)
|
rs751397699
|
0.00002
|
NM_014874.4(MFN2):c.1818C>T (p.Gly606=)
|
rs373843969
|
0.00002
|
NM_014874.4(MFN2):c.1836C>G (p.Ser612=)
|
rs779401482
|
0.00002
|
NM_014874.4(MFN2):c.1873-4G>C
|
rs369338141
|
0.00002
|
NM_014874.4(MFN2):c.187A>C (p.Asn63His)
|
rs761216583
|
0.00002
|
NM_014874.4(MFN2):c.2070-20C>T
|
rs776626503
|
0.00002
|
NM_014874.4(MFN2):c.2070-4C>G
|
rs762750555
|
0.00002
|
NM_014874.4(MFN2):c.2204+14G>A
|
rs757577429
|
0.00002
|
NM_014874.4(MFN2):c.311+9T>C
|
rs771439230
|
0.00002
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_014874.4(MFN2):c.34G>A (p.Val12Ile)
|
rs367715413
|
0.00002
|
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)
|
rs754016178
|
0.00002
|
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
|
rs756851126
|
0.00002
|
NM_014874.4(MFN2):c.544A>G (p.Met182Val)
|
rs1338701016
|
0.00002
|
NM_014874.4(MFN2):c.610G>A (p.Asp204Asn)
|
rs781651055
|
0.00002
|
NM_014874.4(MFN2):c.645G>A (p.Lys215=)
|
rs767693664
|
0.00002
|
NM_014874.4(MFN2):c.693C>T (p.Ser231=)
|
rs774356643
|
0.00002
|
NM_014874.4(MFN2):c.696C>G (p.Thr232=)
|
rs769923700
|
0.00002
|
NM_014874.4(MFN2):c.723C>T (p.Phe241=)
|
rs764912025
|
0.00002
|
NM_014874.4(MFN2):c.740G>A (p.Arg247His)
|
rs762189054
|
0.00002
|
NM_014874.4(MFN2):c.809T>C (p.Met270Thr)
|
rs771996573
|
0.00002
|
NM_014874.4(MFN2):c.823C>T (p.Arg275Trp)
|
rs368499636
|
0.00002
|
NM_014874.4(MFN2):c.824G>A (p.Arg275Gln)
|
rs560470663
|
0.00002
|
NM_014874.4(MFN2):c.876G>T (p.Val292=)
|
rs758376405
|
0.00002
|
NM_015271.5(TRIM2):c.1044C>T (p.Thr348=)
|
rs199866418
|
0.00002
|
NM_015271.5(TRIM2):c.1074G>A (p.Thr358=)
|
rs145538082
|
0.00002
|
NM_015271.5(TRIM2):c.1203G>T (p.Gly401=)
|
rs770461206
|
0.00002
|
NM_015271.5(TRIM2):c.121C>T (p.Arg41Cys)
|
rs763080800
|
0.00002
|
NM_015271.5(TRIM2):c.1615-7C>G
|
rs201299149
|
0.00002
|
NM_015271.5(TRIM2):c.1767C>T (p.Ser589=)
|
rs767007696
|
0.00002
|
NM_015271.5(TRIM2):c.1797A>G (p.Ser599=)
|
rs747232462
|
0.00002
|
NM_015271.5(TRIM2):c.1897G>A (p.Gly633Arg)
|
rs1331932809
|
0.00002
|
NM_015271.5(TRIM2):c.388A>G (p.Ile130Val)
|
rs776363552
|
0.00002
|
NM_016156.6(MTMR2):c.1101G>C (p.Lys367Asn)
|
rs747178197
|
0.00002
|
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr)
|
rs771823531
|
0.00002
|
NM_016156.6(MTMR2):c.1248T>C (p.His416=)
|
rs779618687
|
0.00002
|
NM_016156.6(MTMR2):c.1345G>A (p.Val449Met)
|
rs776520645
|
0.00002
|
NM_016156.6(MTMR2):c.1386+14C>T
|
rs756723447
|
0.00002
|
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
|
rs372095826
|
0.00002
|
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val)
|
rs886048771
|
0.00002
|
NM_016156.6(MTMR2):c.1479+12G>A
|
rs763917620
|
0.00002
|
NM_016156.6(MTMR2):c.1755A>T (p.Pro585=)
|
rs138036650
|
0.00002
|
NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala)
|
rs1271455669
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_016156.6(MTMR2):c.1870_1878dup (p.Ser624_Ser626dup)
|
rs748069614
|
0.00002
|
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys)
|
rs756912172
|
0.00002
|
NM_016156.6(MTMR2):c.297C>T (p.Gly99=)
|
rs772347980
|
0.00002
|
NM_016156.6(MTMR2):c.350T>C (p.Met117Thr)
|
rs752402777
|
0.00002
|
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln)
|
rs759086106
|
0.00002
|
NM_016156.6(MTMR2):c.403G>A (p.Val135Ile)
|
rs951220118
|
0.00002
|
NM_016156.6(MTMR2):c.485G>A (p.Arg162Gln)
|
rs756723587
|
0.00002
|
NM_016156.6(MTMR2):c.759A>C (p.Glu253Asp)
|
rs753939570
|
0.00002
|
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
|
rs887196115
|
0.00002
|
NM_018972.4(GDAP1):c.117+10G>A
|
rs371957814
|
0.00002
|
NM_018972.4(GDAP1):c.165T>C (p.Asp55=)
|
rs138538469
|
0.00002
|
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr)
|
rs751297226
|
0.00002
|
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)
|
rs771810975
|
0.00002
|
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr)
|
rs147295250
|
0.00002
|
NM_018972.4(GDAP1):c.513G>A (p.Leu171=)
|
rs778079435
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
|
rs762473236
|
0.00002
|
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro)
|
rs745398081
|
0.00002
|
NM_018972.4(GDAP1):c.915G>T (p.Leu305=)
|
rs745516657
|
0.00002
|
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr)
|
rs754678569
|
0.00002
|
NM_020631.6(PLEKHG5):c.1293C>T (p.Leu431=)
|
rs758869678
|
0.00002
|
NM_020631.6(PLEKHG5):c.1356G>A (p.Leu452=)
|
rs775124601
|
0.00002
|
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val)
|
rs199839017
|
0.00002
|
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met)
|
rs376903637
|
0.00002
|
NM_020631.6(PLEKHG5):c.1643A>G (p.Tyr548Cys)
|
rs749530565
|
0.00002
|
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val)
|
rs761560984
|
0.00002
|
NM_020631.6(PLEKHG5):c.1731C>T (p.Ala577=)
|
rs138441206
|
0.00002
|
NM_020631.6(PLEKHG5):c.1826C>T (p.Thr609Met)
|
rs553151077
|
0.00002
|
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met)
|
rs768944520
|
0.00002
|
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)
|
rs397515456
|
0.00002
|
NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys)
|
rs747057331
|
0.00002
|
NM_020631.6(PLEKHG5):c.2049+9A>G
|
rs368743607
|
0.00002
|
NM_020631.6(PLEKHG5):c.2124G>A (p.Glu708=)
|
rs370521517
|
0.00002
|
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys)
|
rs776282542
|
0.00002
|
NM_020631.6(PLEKHG5):c.2213T>A (p.Met738Lys)
|
rs1305950436
|
0.00002
|
NM_020631.6(PLEKHG5):c.2216G>A (p.Arg739Gln)
|
rs754583609
|
0.00002
|
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=)
|
rs147386989
|
0.00002
|
NM_020631.6(PLEKHG5):c.2391G>A (p.Thr797=)
|
rs1330946628
|
0.00002
|
NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys)
|
rs538561788
|
0.00002
|
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)
|
rs759272412
|
0.00002
|
NM_020631.6(PLEKHG5):c.2505A>T (p.Pro835=)
|
rs201034547
|
0.00002
|
NM_020631.6(PLEKHG5):c.2524C>T (p.Arg842Trp)
|
rs770870023
|
0.00002
|
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=)
|
rs758214289
|
0.00002
|
NM_020631.6(PLEKHG5):c.2579G>A (p.Arg860His)
|
rs765235144
|
0.00002
|
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His)
|
rs565558161
|
0.00002
|
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu)
|
rs772693344
|
0.00002
|
NM_020631.6(PLEKHG5):c.2811C>T (p.Ser937=)
|
rs1232546435
|
0.00002
|
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser)
|
rs573883242
|
0.00002
|
NM_020631.6(PLEKHG5):c.2838C>T (p.Ala946=)
|
rs573561537
|
0.00002
|
NM_020631.6(PLEKHG5):c.2856C>T (p.Ser952=)
|
rs759718802
|
0.00002
|
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys)
|
rs773530688
|
0.00002
|
NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met)
|
rs376606416
|
0.00002
|
NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro)
|
rs368905339
|
0.00002
|
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn)
|
rs769576836
|
0.00002
|
NM_020631.6(PLEKHG5):c.3012-12C>T
|
rs752907238
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-10C>T
|
rs201656051
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-11C>T
|
rs747418024
|
0.00002
|
NM_020631.6(PLEKHG5):c.477G>A (p.Gln159=)
|
rs373744190
|
0.00002
|
NM_020631.6(PLEKHG5):c.487G>A (p.Asp163Asn)
|
rs886471004
|
0.00002
|
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp)
|
rs766490061
|
0.00002
|
NM_020631.6(PLEKHG5):c.767C>T (p.Ser256Phe)
|
rs376782083
|
0.00002
|
NM_020631.6(PLEKHG5):c.795+13A>G
|
rs766753209
|
0.00002
|
NM_020631.6(PLEKHG5):c.796-4C>T
|
rs1315270235
|
0.00002
|
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser)
|
rs373539850
|
0.00002
|
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser)
|
rs373198302
|
0.00002
|
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
|
rs112657733
|
0.00002
|
NM_020631.6(PLEKHG5):c.903G>A (p.Glu301=)
|
rs780277728
|
0.00002
|
NM_020631.6(PLEKHG5):c.99C>T (p.Pro33=)
|
rs775878865
|
0.00002
|
NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser)
|
rs146053143
|
0.00002
|
NM_021625.5(TRPV4):c.1116G>A (p.Ser372=)
|
rs369811541
|
0.00002
|
NM_021625.5(TRPV4):c.1152+20C>A
|
rs201584110
|
0.00002
|
NM_021625.5(TRPV4):c.1158T>G (p.Phe386Leu)
|
rs760428569
|
0.00002
|
NM_021625.5(TRPV4):c.1171C>T (p.Arg391Trp)
|
rs775385702
|
0.00002
|
NM_021625.5(TRPV4):c.1198C>T (p.Arg400Trp)
|
rs781711282
|
0.00002
|
NM_021625.5(TRPV4):c.1199G>A (p.Arg400Gln)
|
rs926925253
|
0.00002
|
NM_021625.5(TRPV4):c.1328T>C (p.Ile443Thr)
|
rs1032807952
|
0.00002
|
NM_021625.5(TRPV4):c.1332+12G>A
|
rs761558541
|
0.00002
|
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)
|
rs201132615
|
0.00002
|
NM_021625.5(TRPV4):c.1443C>G (p.Ala481=)
|
rs925307171
|
0.00002
|
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)
|
rs758280554
|
0.00002
|
NM_021625.5(TRPV4):c.1549A>G (p.Thr517Ala)
|
rs1085307827
|
0.00002
|
NM_021625.5(TRPV4):c.1551G>A (p.Thr517=)
|
rs754598807
|
0.00002
|
NM_021625.5(TRPV4):c.1566C>G (p.Val522=)
|
rs765724064
|
0.00002
|
NM_021625.5(TRPV4):c.1578C>T (p.Phe526=)
|
rs762257218
|
0.00002
|
NM_021625.5(TRPV4):c.183C>T (p.Gly61=)
|
rs773744592
|
0.00002
|
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln)
|
rs1199457372
|
0.00002
|
NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=)
|
rs373961067
|
0.00002
|
NM_021625.5(TRPV4):c.2158G>A (p.Glu720Lys)
|
rs1481500312
|
0.00002
|
NM_021625.5(TRPV4):c.219C>T (p.Gly73=)
|
rs201523762
|
0.00002
|
NM_021625.5(TRPV4):c.2238C>T (p.Arg746=)
|
rs768237019
|
0.00002
|
NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys)
|
rs757814511
|
0.00002
|
NM_021625.5(TRPV4):c.2432C>T (p.Ser811Leu)
|
rs756076344
|
0.00002
|
NM_021625.5(TRPV4):c.2508G>A (p.Ser836=)
|
rs201884175
|
0.00002
|
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
|
rs372583866
|
0.00002
|
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His)
|
rs371989034
|
0.00002
|
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
|
rs548680957
|
0.00002
|
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val)
|
rs772563295
|
0.00002
|
NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln)
|
rs139300843
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys)
|
rs200497189
|
0.00002
|
NM_021625.5(TRPV4):c.646A>G (p.Ile216Val)
|
rs1318320106
|
0.00002
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys)
|
rs754848195
|
0.00002
|
NM_021625.5(TRPV4):c.743G>A (p.Arg248His)
|
rs759859968
|
0.00002
|
NM_021625.5(TRPV4):c.771C>T (p.Leu257=)
|
rs778796999
|
0.00002
|
NM_021625.5(TRPV4):c.981G>A (p.Ala327=)
|
rs369752825
|
0.00002
|
NM_021629.4(GNB4):c.137G>A (p.Arg46Gln)
|
rs755914601
|
0.00002
|
NM_021629.4(GNB4):c.268-16G>C
|
rs201894015
|
0.00002
|
NM_021629.4(GNB4):c.363C>T (p.Cys121=)
|
rs1316185536
|
0.00002
|
NM_021629.4(GNB4):c.432G>A (p.Gly144=)
|
rs759607911
|
0.00002
|
NM_021629.4(GNB4):c.723C>T (p.Phe241=)
|
rs752815541
|
0.00002
|
NM_021629.4(GNB4):c.751C>T (p.Arg251Trp)
|
rs756270613
|
0.00002
|
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu)
|
rs368061934
|
0.00002
|
NM_021629.4(GNB4):c.84A>C (p.Ala28=)
|
rs770125763
|
0.00002
|
NM_021629.4(GNB4):c.896C>T (p.Thr299Met)
|
rs202181846
|
0.00002
|
NM_022489.4(INF2):c.1050G>A (p.Pro350=)
|
rs750840228
|
0.00002
|
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)
|
rs762096939
|
0.00002
|
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
|
rs1356183663
|
0.00002
|
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr)
|
rs1208616690
|
0.00002
|
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu)
|
rs1375222598
|
0.00002
|
NM_022489.4(INF2):c.1405A>G (p.Met469Val)
|
rs1461056808
|
0.00002
|
NM_022489.4(INF2):c.1564C>T (p.Leu522=)
|
rs369895163
|
0.00002
|
NM_022489.4(INF2):c.1615G>A (p.Val539Met)
|
rs769014945
|
0.00002
|
NM_022489.4(INF2):c.1735+10C>T
|
rs772368953
|
0.00002
|
NM_022489.4(INF2):c.1736-19C>G
|
rs968695542
|
0.00002
|
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
|
rs752971046
|
0.00002
|
NM_022489.4(INF2):c.1865G>A (p.Arg622Gln)
|
rs200155666
|
0.00002
|
NM_022489.4(INF2):c.1887+8C>T
|
rs569295413
|
0.00002
|
NM_022489.4(INF2):c.18C>T (p.Gly6=)
|
rs1032255653
|
0.00002
|
NM_022489.4(INF2):c.1965C>T (p.Val655=)
|
rs752090814
|
0.00002
|
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)
|
rs756754311
|
0.00002
|
NM_022489.4(INF2):c.2005G>A (p.Val669Met)
|
rs756038490
|
0.00002
|
NM_022489.4(INF2):c.2040C>T (p.Pro680=)
|
rs373736329
|
0.00002
|
NM_022489.4(INF2):c.2049C>T (p.His683=)
|
rs760045317
|
0.00002
|
NM_022489.4(INF2):c.2053-3C>T
|
rs754983807
|
0.00002
|
NM_022489.4(INF2):c.2311-15C>T
|
rs1430711592
|
0.00002
|
NM_022489.4(INF2):c.2376G>A (p.Lys792=)
|
rs1186010964
|
0.00002
|
NM_022489.4(INF2):c.2410G>A (p.Val804Met)
|
rs199979156
|
0.00002
|
NM_022489.4(INF2):c.2419-8C>A
|
rs372720253
|
0.00002
|
NM_022489.4(INF2):c.2424G>A (p.Ala808=)
|
rs761313685
|
0.00002
|
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro)
|
rs575569437
|
0.00002
|
NM_022489.4(INF2):c.255G>T (p.Ser85=)
|
rs369037445
|
0.00002
|
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830
|
0.00002
|
NM_022489.4(INF2):c.2775+13G>A
|
rs759589756
|
0.00002
|
NM_022489.4(INF2):c.2802G>A (p.Ala934=)
|
rs768008674
|
0.00002
|
NM_022489.4(INF2):c.288G>C (p.Leu96=)
|
rs557082203
|
0.00002
|
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg)
|
rs748286029
|
0.00002
|
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn)
|
rs201180682
|
0.00002
|
NM_022489.4(INF2):c.2979C>T (p.Arg993=)
|
rs372735722
|
0.00002
|
NM_022489.4(INF2):c.3040+2T>C
|
rs1437272364
|
0.00002
|
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met)
|
rs760488958
|
0.00002
|
NM_022489.4(INF2):c.3519C>T (p.Asp1173=)
|
rs767075044
|
0.00002
|
NM_022489.4(INF2):c.3558C>T (p.Asp1186=)
|
rs762019986
|
0.00002
|
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser)
|
rs201091360
|
0.00002
|
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)
|
rs763988639
|
0.00002
|
NM_022489.4(INF2):c.372C>T (p.Tyr124=)
|
rs368077298
|
0.00002
|
NM_022489.4(INF2):c.408C>T (p.Asn136=)
|
rs767069639
|
0.00002
|
NM_022489.4(INF2):c.564C>T (p.Ser188=)
|
rs746732992
|
0.00002
|
NM_022489.4(INF2):c.951C>A (p.Ser317Arg)
|
rs763642754
|
0.00002
|
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr)
|
rs1189763508
|
0.00002
|
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs772832716
|
0.00002
|
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp)
|
rs753775570
|
0.00002
|
NM_024577.4(SH3TC2):c.1136-12A>G
|
rs367677521
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-3C>T
|
rs1380474010
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-8C>T
|
rs202042438
|
0.00002
|
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517
|
0.00002
|
NM_024577.4(SH3TC2):c.1284G>A (p.Glu428=)
|
rs367691494
|
0.00002
|
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr)
|
rs764054256
|
0.00002
|
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val)
|
rs543440112
|
0.00002
|
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)
|
rs778936762
|
0.00002
|
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)
|
rs370025626
|
0.00002
|
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met)
|
rs577783066
|
0.00002
|
NM_024577.4(SH3TC2):c.1854C>T (p.Tyr618=)
|
rs1483284949
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_024577.4(SH3TC2):c.1968C>T (p.Ala656=)
|
rs114797709
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu)
|
rs747615941
|
0.00002
|
NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln)
|
rs755570739
|
0.00002
|
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe)
|
rs139958177
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_024577.4(SH3TC2):c.2873-3C>T
|
rs749316605
|
0.00002
|
NM_024577.4(SH3TC2):c.2922C>T (p.Ser974=)
|
rs755319616
|
0.00002
|
NM_024577.4(SH3TC2):c.2950C>A (p.His984Asn)
|
rs747613156
|
0.00002
|
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala)
|
rs192187328
|
0.00002
|
NM_024577.4(SH3TC2):c.3024G>A (p.Gly1008=)
|
rs771710493
|
0.00002
|
NM_024577.4(SH3TC2):c.3039C>A (p.Asn1013Lys)
|
rs753381949
|
0.00002
|
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val)
|
rs369953562
|
0.00002
|
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys)
|
rs756108498
|
0.00002
|
NM_024577.4(SH3TC2):c.3205-7C>T
|
rs369262851
|
0.00002
|
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp)
|
rs1371951870
|
0.00002
|
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)
|
rs199514987
|
0.00002
|
NM_024577.4(SH3TC2):c.330C>T (p.Leu110=)
|
rs1305286171
|
0.00002
|
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser)
|
rs778351829
|
0.00002
|
NM_024577.4(SH3TC2):c.3479-5C>T
|
rs768321650
|
0.00002
|
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val)
|
rs372797350
|
0.00002
|
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs758669363
|
0.00002
|
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg)
|
rs1163101801
|
0.00002
|
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val)
|
rs141712019
|
0.00002
|
NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val)
|
rs147931490
|
0.00002
|
NM_024577.4(SH3TC2):c.3833C>T (p.Ala1278Val)
|
rs374516818
|
0.00002
|
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe)
|
rs755754277
|
0.00002
|
NM_024577.4(SH3TC2):c.442T>G (p.Cys148Gly)
|
rs748071430
|
0.00002
|
NM_024577.4(SH3TC2):c.530-12C>T
|
rs374788786
|
0.00002
|
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)
|
rs371302639
|
0.00002
|
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val)
|
rs746615255
|
0.00002
|
NM_024577.4(SH3TC2):c.936G>A (p.Ser312=)
|
rs918659172
|
0.00002
|
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile)
|
rs1372841015
|
0.00002
|
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr)
|
rs371432409
|
0.00002
|
NM_030962.4(SBF2):c.1164C>T (p.His388=)
|
rs959559753
|
0.00002
|
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu)
|
rs765958389
|
0.00002
|
NM_030962.4(SBF2):c.142-11A>G
|
rs539146891
|
0.00002
|
NM_030962.4(SBF2):c.1861-7C>T
|
rs199559894
|
0.00002
|
NM_030962.4(SBF2):c.1971A>G (p.Val657=)
|
rs368639697
|
0.00002
|
NM_030962.4(SBF2):c.2078A>G (p.His693Arg)
|
rs1269738427
|
0.00002
|
NM_030962.4(SBF2):c.2122T>C (p.Tyr708His)
|
rs368259453
|
0.00002
|
NM_030962.4(SBF2):c.2304C>T (p.Leu768=)
|
rs758341369
|
0.00002
|
NM_030962.4(SBF2):c.2397A>G (p.Thr799=)
|
rs759550730
|
0.00002
|
NM_030962.4(SBF2):c.2449C>T (p.Arg817Trp)
|
rs747325449
|
0.00002
|
NM_030962.4(SBF2):c.2481T>C (p.Cys827=)
|
rs777916307
|
0.00002
|
NM_030962.4(SBF2):c.2597C>T (p.Pro866Leu)
|
rs143887793
|
0.00002
|
NM_030962.4(SBF2):c.2602A>G (p.Ile868Val)
|
rs750641739
|
0.00002
|
NM_030962.4(SBF2):c.2806+10G>A
|
rs761936469
|
0.00002
|
NM_030962.4(SBF2):c.2807-8A>G
|
rs762580844
|
0.00002
|
NM_030962.4(SBF2):c.2828G>A (p.Arg943Gln)
|
rs753298285
|
0.00002
|
NM_030962.4(SBF2):c.2935-15C>G
|
rs967262284
|
0.00002
|
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys)
|
rs770723203
|
0.00002
|
NM_030962.4(SBF2):c.3230G>C (p.Gly1077Ala)
|
rs775746690
|
0.00002
|
NM_030962.4(SBF2):c.3256+15G>C
|
rs774896771
|
0.00002
|
NM_030962.4(SBF2):c.3313A>G (p.Thr1105Ala)
|
rs1217278816
|
0.00002
|
NM_030962.4(SBF2):c.3353A>T (p.Tyr1118Phe)
|
rs1206899890
|
0.00002
|
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser)
|
rs1310790545
|
0.00002
|
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His)
|
rs751750978
|
0.00002
|
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr)
|
rs753626252
|
0.00002
|
NM_030962.4(SBF2):c.3744C>G (p.Leu1248=)
|
rs752703631
|
0.00002
|
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn)
|
rs774935915
|
0.00002
|
NM_030962.4(SBF2):c.3858T>C (p.Val1286=)
|
rs768590614
|
0.00002
|
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931
|
0.00002
|
NM_030962.4(SBF2):c.3978+7T>C
|
rs1416833371
|
0.00002
|
NM_030962.4(SBF2):c.402+15G>A
|
rs780717348
|
0.00002
|
NM_030962.4(SBF2):c.409C>T (p.Leu137=)
|
rs200954150
|
0.00002
|
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)
|
rs762165359
|
0.00002
|
NM_030962.4(SBF2):c.4570+18C>T
|
rs754163697
|
0.00002
|
NM_030962.4(SBF2):c.4588A>G (p.Lys1530Glu)
|
rs746575779
|
0.00002
|
NM_030962.4(SBF2):c.4839A>G (p.Gly1613=)
|
rs759504729
|
0.00002
|
NM_030962.4(SBF2):c.4852C>T (p.Arg1618Trp)
|
rs200696363
|
0.00002
|
NM_030962.4(SBF2):c.4853G>A (p.Arg1618Gln)
|
rs770439158
|
0.00002
|
NM_030962.4(SBF2):c.4872G>T (p.Val1624=)
|
rs539369489
|
0.00002
|
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)
|
rs757095964
|
0.00002
|
NM_030962.4(SBF2):c.4960A>C (p.Asn1654His)
|
rs927212697
|
0.00002
|
NM_030962.4(SBF2):c.5007G>A (p.Val1669=)
|
rs918725972
|
0.00002
|
NM_030962.4(SBF2):c.5017G>A (p.Glu1673Lys)
|
rs764823510
|
0.00002
|
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His)
|
rs769919130
|
0.00002
|
NM_030962.4(SBF2):c.5112A>G (p.Leu1704=)
|
rs370420894
|
0.00002
|
NM_030962.4(SBF2):c.5231+13A>G
|
rs1242027664
|
0.00002
|
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val)
|
rs755264093
|
0.00002
|
NM_030962.4(SBF2):c.5452-18T>C
|
rs774923587
|
0.00002
|
NM_030962.4(SBF2):c.5468G>A (p.Arg1823His)
|
rs369992460
|
0.00002
|
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val)
|
rs1048725630
|
0.00002
|
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu)
|
rs746246566
|
0.00002
|
NM_030973.4(MED25):c.1094C>T (p.Pro365Leu)
|
rs536678372
|
0.00002
|
NM_030973.4(MED25):c.1102-10C>T
|
rs775817056
|
0.00002
|
NM_030973.4(MED25):c.1212G>A (p.Gly404=)
|
rs781693362
|
0.00002
|
NM_030973.4(MED25):c.1278A>T (p.Ser426=)
|
rs1235405156
|
0.00002
|
NM_030973.4(MED25):c.1314C>G (p.Asn438Lys)
|
rs149030211
|
0.00002
|
NM_030973.4(MED25):c.1317-9C>T
|
rs370255278
|
0.00002
|
NM_030973.4(MED25):c.131T>G (p.Ile44Ser)
|
rs376462101
|
0.00002
|
NM_030973.4(MED25):c.135-14T>C
|
rs765934196
|
0.00002
|
NM_030973.4(MED25):c.1604A>G (p.Asn535Ser)
|
rs1198078458
|
0.00002
|
NM_030973.4(MED25):c.1691C>T (p.Ala564Val)
|
rs750211605
|
0.00002
|
NM_030973.4(MED25):c.180+17C>G
|
rs770514045
|
0.00002
|
NM_030973.4(MED25):c.181-7C>T
|
rs1640511
|
0.00002
|
NM_030973.4(MED25):c.1861C>T (p.Pro621Ser)
|
rs543247926
|
0.00002
|
NM_030973.4(MED25):c.1891C>T (p.Pro631Ser)
|
rs764083423
|
0.00002
|
NM_030973.4(MED25):c.1900A>G (p.Ile634Val)
|
rs776084741
|
0.00002
|
NM_030973.4(MED25):c.1950C>T (p.Leu650=)
|
rs749309483
|
0.00002
|
NM_030973.4(MED25):c.1973C>T (p.Thr658Ile)
|
rs768469811
|
0.00002
|
NM_030973.4(MED25):c.2113C>A (p.Pro705Thr)
|
rs367802464
|
0.00002
|
NM_030973.4(MED25):c.2163C>T (p.Ser721=)
|
rs749606105
|
0.00002
|
NM_030973.4(MED25):c.315C>T (p.Gly105=)
|
rs1441161522
|
0.00002
|
NM_030973.4(MED25):c.368A>C (p.Gln123Pro)
|
rs750315392
|
0.00002
|
NM_030973.4(MED25):c.405-6T>C
|
rs1053967709
|
0.00002
|
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
|
rs1376475717
|
0.00002
|
NM_030973.4(MED25):c.569C>T (p.Ala190Val)
|
rs780526739
|
0.00002
|
NM_030973.4(MED25):c.618G>A (p.Pro206=)
|
rs772693264
|
0.00002
|
NM_030973.4(MED25):c.688+8C>T
|
rs201112045
|
0.00002
|
NM_030973.4(MED25):c.697G>A (p.Gly233Ser)
|
rs778397363
|
0.00002
|
NM_030973.4(MED25):c.747C>T (p.Pro249=)
|
rs111621037
|
0.00002
|
NM_030973.4(MED25):c.748G>A (p.Ala250Thr)
|
rs371817340
|
0.00002
|
NM_030973.4(MED25):c.769C>G (p.Leu257Val)
|
rs1057519203
|
0.00002
|
NM_030973.4(MED25):c.81C>T (p.Asn27=)
|
rs761471079
|
0.00002
|
NM_030973.4(MED25):c.846G>T (p.Gln282His)
|
rs762885909
|
0.00002
|
NM_030973.4(MED25):c.852C>T (p.Ala284=)
|
rs200117024
|
0.00002
|
NM_030973.4(MED25):c.943G>A (p.Gly315Arg)
|
rs1483220422
|
0.00002
|
NM_170707.4(LMNA):c.1038C>T (p.Ala346=)
|
rs1019030652
|
0.00002
|
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)
|
rs147015659
|
0.00002
|
NM_170707.4(LMNA):c.1071C>T (p.Asp357=)
|
rs376875762
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_170707.4(LMNA):c.1157+18C>T
|
rs372021174
|
0.00002
|
NM_170707.4(LMNA):c.1157+6C>G
|
rs374768416
|
0.00002
|
NM_170707.4(LMNA):c.1158-12C>G
|
rs372934817
|
0.00002
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
NM_170707.4(LMNA):c.1190G>A (p.Arg397His)
|
rs747952058
|
0.00002
|
NM_170707.4(LMNA):c.1236G>C (p.Gly412=)
|
rs763537103
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_170707.4(LMNA):c.142C>G (p.Arg48Gly)
|
rs769977710
|
0.00002
|
NM_170707.4(LMNA):c.149G>A (p.Arg50His)
|
rs60695352
|
0.00002
|
NM_170707.4(LMNA):c.1504G>A (p.Ala502Thr)
|
rs1215424724
|
0.00002
|
NM_170707.4(LMNA):c.1608+10C>T
|
rs748917147
|
0.00002
|
NM_170707.4(LMNA):c.1719G>A (p.Ser573=)
|
rs759853354
|
0.00002
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
NM_170707.4(LMNA):c.1755C>T (p.Thr585=)
|
rs545752475
|
0.00002
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)
|
rs752598065
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_170707.4(LMNA):c.364A>G (p.Lys122Glu)
|
rs1222398892
|
0.00002
|
NM_170707.4(LMNA):c.504G>C (p.Gln168His)
|
rs747771347
|
0.00002
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
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.658C>T (p.Arg220Cys)
|
rs370134870
|
0.00002
|
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)
|
rs61578124
|
0.00002
|
NM_170707.4(LMNA):c.810+12C>T
|
rs746914371
|
0.00002
|
NM_170707.4(LMNA):c.867C>T (p.His289=)
|
rs780415585
|
0.00002
|
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu)
|
rs769210828
|
0.00002
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
NM_170707.4(LMNA):c.937-9C>T
|
rs1332011298
|
0.00002
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_181882.3(PRX):c.1008C>T (p.Asp336=)
|
rs956847298
|
0.00002
|
NM_181882.3(PRX):c.1080T>C (p.Leu360=)
|
rs199882125
|
0.00002
|
NM_181882.3(PRX):c.108C>A (p.Gly36=)
|
rs771407657
|
0.00002
|
NM_181882.3(PRX):c.1107A>C (p.Ala369=)
|
rs1191054190
|
0.00002
|
NM_181882.3(PRX):c.1166C>G (p.Pro389Arg)
|
rs377089486
|
0.00002
|
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)
|
rs773009397
|
0.00002
|
NM_181882.3(PRX):c.1465G>A (p.Val489Met)
|
rs753734869
|
0.00002
|
NM_181882.3(PRX):c.1472T>C (p.Leu491Pro)
|
rs1235376433
|
0.00002
|
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu)
|
rs767098112
|
0.00002
|
NM_181882.3(PRX):c.161C>T (p.Ala54Val)
|
rs774974168
|
0.00002
|
NM_181882.3(PRX):c.16C>T (p.Arg6Trp)
|
rs759056060
|
0.00002
|
NM_181882.3(PRX):c.185-6C>T
|
rs747043680
|
0.00002
|
NM_181882.3(PRX):c.1906C>T (p.Leu636Phe)
|
rs756785716
|
0.00002
|
NM_181882.3(PRX):c.1935C>T (p.Pro645=)
|
rs763132536
|
0.00002
|
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
|
rs761824931
|
0.00002
|
NM_181882.3(PRX):c.2098G>A (p.Ala700Thr)
|
rs1160407003
|
0.00002
|
NM_181882.3(PRX):c.2214C>T (p.Pro738=)
|
rs772694451
|
0.00002
|
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)
|
rs371887816
|
0.00002
|
NM_181882.3(PRX):c.2385G>A (p.Met795Ile)
|
rs929097201
|
0.00002
|
NM_181882.3(PRX):c.2395T>C (p.Phe799Leu)
|
rs372370577
|
0.00002
|
NM_181882.3(PRX):c.2496A>T (p.Val832=)
|
rs777527307
|
0.00002
|
NM_181882.3(PRX):c.2534C>T (p.Ala845Val)
|
rs750952608
|
0.00002
|
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)
|
rs756689732
|
0.00002
|
NM_181882.3(PRX):c.2707A>G (p.Ile903Val)
|
rs941768924
|
0.00002
|
NM_181882.3(PRX):c.2807T>C (p.Phe936Ser)
|
rs765270572
|
0.00002
|
NM_181882.3(PRX):c.2868G>A (p.Lys956=)
|
rs1353324401
|
0.00002
|
NM_181882.3(PRX):c.2892C>G (p.Ile964Met)
|
rs758668778
|
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.3441G>A (p.Pro1147=)
|
rs777344023
|
0.00002
|
NM_181882.3(PRX):c.3486G>A (p.Glu1162=)
|
rs764466921
|
0.00002
|
NM_181882.3(PRX):c.3646G>A (p.Val1216Met)
|
rs774413102
|
0.00002
|
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
|
rs778017594
|
0.00002
|
NM_181882.3(PRX):c.3698C>T (p.Ala1233Val)
|
rs767851512
|
0.00002
|
NM_181882.3(PRX):c.3885G>A (p.Glu1295=)
|
rs776947855
|
0.00002
|
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp)
|
rs752593001
|
0.00002
|
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
|
rs559968504
|
0.00002
|
NM_181882.3(PRX):c.4057G>A (p.Glu1353Lys)
|
rs150914430
|
0.00002
|
NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp)
|
rs766729202
|
0.00002
|
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys)
|
rs771840476
|
0.00002
|
NM_181882.3(PRX):c.4200G>A (p.Lys1400=)
|
rs760540823
|
0.00002
|
NM_181882.3(PRX):c.4206C>T (p.Pro1402=)
|
rs771992595
|
0.00002
|
NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp)
|
rs1347473458
|
0.00002
|
NM_181882.3(PRX):c.457C>T (p.Pro153Ser)
|
rs760295364
|
0.00002
|
NM_181882.3(PRX):c.502C>T (p.Arg168Trp)
|
rs374193988
|
0.00002
|
NM_181882.3(PRX):c.634C>A (p.Pro212Thr)
|
rs771156102
|
0.00002
|
NM_181882.3(PRX):c.668T>C (p.Val223Ala)
|
rs1054277008
|
0.00002
|
NM_181882.3(PRX):c.826G>A (p.Gly276Arg)
|
rs768077877
|
0.00002
|
NM_181882.3(PRX):c.833C>T (p.Pro278Leu)
|
rs886054440
|
0.00002
|
NM_181882.3(PRX):c.902C>A (p.Pro301His)
|
rs1186753867
|
0.00002
|
NC_000012.11:g.57892346A>G
|
rs766466297
|
0.00001
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
NM_000263.4(NAGLU):c.1022-10C>T
|
rs1314987679
|
0.00001
|
NM_000263.4(NAGLU):c.1022-4A>G
|
rs748016637
|
0.00001
|
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile)
|
rs1469114327
|
0.00001
|
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=)
|
rs771833491
|
0.00001
|
NM_000263.4(NAGLU):c.105C>T (p.Leu35=)
|
rs954871115
|
0.00001
|
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)
|
rs766000735
|
0.00001
|
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
|
rs754413995
|
0.00001
|
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=)
|
rs778956418
|
0.00001
|
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser)
|
rs2092906065
|
0.00001
|
NM_000263.4(NAGLU):c.1107G>T (p.Val369=)
|
rs1479965895
|
0.00001
|
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=)
|
rs1469438575
|
0.00001
|
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His)
|
rs768600049
|
0.00001
|
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys)
|
rs762372103
|
0.00001
|
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His)
|
rs199850748
|
0.00001
|
NM_000263.4(NAGLU):c.114G>C (p.Arg38=)
|
rs2092906079
|
0.00001
|
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter)
|
rs879111128
|
0.00001
|
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His)
|
rs753409259
|
0.00001
|
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=)
|
rs752682040
|
0.00001
|
NM_000263.4(NAGLU):c.1200del (p.Gln400fs)
|
rs1485628563
|
0.00001
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000263.4(NAGLU):c.1224C>T (p.His408=)
|
rs780376108
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met)
|
rs1237047553
|
0.00001
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036
|
0.00001
|
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=)
|
rs775035658
|
0.00001
|
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=)
|
rs757069066
|
0.00001
|
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)
|
rs767179184
|
0.00001
|
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
|
rs200029453
|
0.00001
|
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
|
rs1183634153
|
0.00001
|
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
|
rs2092906139
|
0.00001
|
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=)
|
rs762502127
|
0.00001
|
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)
|
rs138387856
|
0.00001
|
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=)
|
rs752918057
|
0.00001
|
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
|
rs868244206
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.144C>T (p.Phe48=)
|
rs104894599
|
0.00001
|
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu)
|
rs748902330
|
0.00001
|
NM_000263.4(NAGLU):c.147C>T (p.Ser49=)
|
rs1312501106
|
0.00001
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)
|
rs1353058781
|
0.00001
|
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
|
rs1300652650
|
0.00001
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=)
|
rs1318650686
|
0.00001
|
NM_000263.4(NAGLU):c.154G>A (p.Val52Met)
|
rs794726880
|
0.00001
|
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
rs764446533
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000263.4(NAGLU):c.159G>A (p.Glu53=)
|
rs910639529
|
0.00001
|
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=)
|
rs1439979743
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu)
|
rs1362489439
|
0.00001
|
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser)
|
rs1049965915
|
0.00001
|
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu)
|
rs1166458645
|
0.00001
|
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=)
|
rs1287450896
|
0.00001
|
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=)
|
rs1179779613
|
0.00001
|
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=)
|
rs1410332176
|
0.00001
|
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=)
|
rs1368697056
|
0.00001
|
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg)
|
rs1217324478
|
0.00001
|
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=)
|
rs749025581
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg)
|
rs773277748
|
0.00001
|
NM_000263.4(NAGLU):c.180G>A (p.Pro60=)
|
rs1449219265
|
0.00001
|
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys)
|
rs756138287
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly)
|
rs777994015
|
0.00001
|
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly)
|
rs1264514990
|
0.00001
|
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn)
|
rs1227171021
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
rs527236038
|
0.00001
|
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg)
|
rs1197265081
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)
|
rs1230894568
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=)
|
rs748402226
|
0.00001
|
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=)
|
rs1397893429
|
0.00001
|
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=)
|
rs934112717
|
0.00001
|
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=)
|
rs1438567691
|
0.00001
|
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
|
rs774918711
|
0.00001
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217
|
0.00001
|
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
|
rs146582131
|
0.00001
|
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His)
|
rs754927686
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala)
|
rs1329966515
|
0.00001
|
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn)
|
rs367726645
|
0.00001
|
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser)
|
rs553153753
|
0.00001
|
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp)
|
rs1455286651
|
0.00001
|
NM_000263.4(NAGLU):c.228G>A (p.Arg76=)
|
rs1220553522
|
0.00001
|
NM_000263.4(NAGLU):c.231G>C (p.Val77=)
|
rs949225882
|
0.00001
|
NM_000263.4(NAGLU):c.261G>C (p.Ala87=)
|
rs1452325580
|
0.00001
|
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg)
|
rs1227387097
|
0.00001
|
NM_000263.4(NAGLU):c.270C>T (p.His90=)
|
rs1360267129
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=)
|
rs753801626
|
0.00001
|
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val)
|
rs1285791183
|
0.00001
|
NM_000263.4(NAGLU):c.351G>T (p.Val117=)
|
rs1436378685
|
0.00001
|
NM_000263.4(NAGLU):c.383+1G>T
|
rs727504028
|
0.00001
|
NM_000263.4(NAGLU):c.383+5C>G
|
rs762932040
|
0.00001
|
NM_000263.4(NAGLU):c.384-10C>G
|
rs772996063
|
0.00001
|
NM_000263.4(NAGLU):c.384-16A>T
|
rs768251683
|
0.00001
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
NM_000263.4(NAGLU):c.384-8G>A
|
rs746106558
|
0.00001
|
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=)
|
rs1453761645
|
0.00001
|
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
rs750741772
|
0.00001
|
NM_000263.4(NAGLU):c.411G>A (p.Thr137=)
|
rs1464521532
|
0.00001
|
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn)
|
rs2092909557
|
0.00001
|
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter)
|
rs748042028
|
0.00001
|
NM_000263.4(NAGLU):c.459G>A (p.Glu153=)
|
rs746876753
|
0.00001
|
NM_000263.4(NAGLU):c.48C>T (p.Ala16=)
|
rs1312488945
|
0.00001
|
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser)
|
rs762238741
|
0.00001
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu)
|
rs765009822
|
0.00001
|
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
|
rs1344891508
|
0.00001
|
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg)
|
rs762576999
|
0.00001
|
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter)
|
rs1279412522
|
0.00001
|
NM_000263.4(NAGLU):c.645C>T (p.Pro215=)
|
rs2092912974
|
0.00001
|
NM_000263.4(NAGLU):c.679-15C>T
|
rs376430265
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073
|
0.00001
|
NM_000263.4(NAGLU):c.708C>T (p.Phe236=)
|
rs770221835
|
0.00001
|
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser)
|
rs1347490896
|
0.00001
|
NM_000263.4(NAGLU):c.720A>T (p.Pro240=)
|
rs892493572
|
0.00001
|
NM_000263.4(NAGLU):c.735C>T (p.Phe245=)
|
rs539646032
|
0.00001
|
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val)
|
rs1405289098
|
0.00001
|
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
rs367604063
|
0.00001
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
NM_000263.4(NAGLU):c.764+12C>G
|
rs1002650158
|
0.00001
|
NM_000263.4(NAGLU):c.764+15A>G
|
rs1419186153
|
0.00001
|
NM_000263.4(NAGLU):c.783T>C (p.Asn261=)
|
rs1275689779
|
0.00001
|
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
rs769713129
|
0.00001
|
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
|
rs199625480
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln)
|
rs200625281
|
0.00001
|
NM_000263.4(NAGLU):c.894G>A (p.Glu298=)
|
rs746626709
|
0.00001
|
NM_000263.4(NAGLU):c.909T>C (p.Phe303=)
|
rs140386564
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
NM_000263.4(NAGLU):c.999C>T (p.Ala333=)
|
rs959173039
|
0.00001
|
NM_001005361.3(DNM2):c.1062G>A (p.Leu354=)
|
rs1294460166
|
0.00001
|
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=)
|
rs779241319
|
0.00001
|
NM_001005361.3(DNM2):c.1095C>A (p.Ile365=)
|
rs746959606
|
0.00001
|
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
|
rs1202955393
|
0.00001
|
NM_001005361.3(DNM2):c.1101C>T (p.His367=)
|
rs768651920
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001005361.3(DNM2):c.1128+13G>A
|
rs772437963
|
0.00001
|
NM_001005361.3(DNM2):c.1128+5T>G
|
rs2071835923
|
0.00001
|
NM_001005361.3(DNM2):c.1129-6T>C
|
rs1190685421
|
0.00001
|
NM_001005361.3(DNM2):c.1196+626G>A
|
rs773756665
|
0.00001
|
NM_001005361.3(DNM2):c.1196+677G>A
|
rs763986985
|
0.00001
|
NM_001005361.3(DNM2):c.1196+698C>A
|
rs879253980
|
0.00001
|
NM_001005361.3(DNM2):c.1196+703A>G
|
rs1460963465
|
0.00001
|
NM_001005361.3(DNM2):c.1196+709C>T
|
rs1459325416
|
0.00001
|
NM_001005361.3(DNM2):c.1196+735A>G
|
rs778187114
|
0.00001
|
NM_001005361.3(DNM2):c.1196+747A>G
|
rs1280243348
|
0.00001
|
NM_001005361.3(DNM2):c.1196+771C>T
|
rs775754391
|
0.00001
|
NM_001005361.3(DNM2):c.126C>T (p.Ala42=)
|
rs1425173670
|
0.00001
|
NM_001005361.3(DNM2):c.1336-20C>T
|
rs376646009
|
0.00001
|
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
|
rs372593558
|
0.00001
|
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln)
|
rs749154067
|
0.00001
|
NM_001005361.3(DNM2):c.1380C>T (p.Val460=)
|
rs2072021814
|
0.00001
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
NM_001005361.3(DNM2):c.1413G>A (p.Thr471=)
|
rs2072022940
|
0.00001
|
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900
|
0.00001
|
NM_001005361.3(DNM2):c.1423-13C>T
|
rs771343870
|
0.00001
|
NM_001005361.3(DNM2):c.1423-4C>T
|
rs552776205
|
0.00001
|
NM_001005361.3(DNM2):c.1440C>T (p.Asp480=)
|
rs374655671
|
0.00001
|
NM_001005361.3(DNM2):c.1482C>T (p.Ile494=)
|
rs377458236
|
0.00001
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
rs759366882
|
0.00001
|
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905
|
0.00001
|
NM_001005361.3(DNM2):c.1530A>G (p.Arg510=)
|
rs755640122
|
0.00001
|
NM_001005361.3(DNM2):c.1541A>G (p.Asn514Ser)
|
rs141132980
|
0.00001
|
NM_001005361.3(DNM2):c.1545+9C>A
|
rs1457554222
|
0.00001
|
NM_001005361.3(DNM2):c.1554C>T (p.Ile518=)
|
rs1392112344
|
0.00001
|
NM_001005361.3(DNM2):c.1558-5C>A
|
rs777800520
|
0.00001
|
NM_001005361.3(DNM2):c.1558-9T>G
|
rs748026953
|
0.00001
|
NM_001005361.3(DNM2):c.1578G>T (p.Leu526=)
|
rs774068020
|
0.00001
|
NM_001005361.3(DNM2):c.1586A>G (p.Asn529Ser)
|
rs1406718069
|
0.00001
|
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=)
|
rs774973372
|
0.00001
|
NM_001005361.3(DNM2):c.161+6C>T
|
rs2068821980
|
0.00001
|
NM_001005361.3(DNM2):c.162-6del
|
rs766449694
|
0.00001
|
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg)
|
rs886043756
|
0.00001
|
NM_001005361.3(DNM2):c.1716C>A (p.Ile572=)
|
rs776999450
|
0.00001
|
NM_001005361.3(DNM2):c.1752C>T (p.His584=)
|
rs552850014
|
0.00001
|
NM_001005361.3(DNM2):c.1758C>T (p.Phe586=)
|
rs766274376
|
0.00001
|
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881
|
0.00001
|
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679
|
0.00001
|
NM_001005361.3(DNM2):c.1781+16G>T
|
rs752355749
|
0.00001
|
NM_001005361.3(DNM2):c.1781+7G>A
|
rs780683090
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005361.3(DNM2):c.1785C>T (p.Asn595=)
|
rs755603323
|
0.00001
|
NM_001005361.3(DNM2):c.1809C>T (p.Ile603=)
|
rs780409124
|
0.00001
|
NM_001005361.3(DNM2):c.183A>G (p.Ser61=)
|
rs149555942
|
0.00001
|
NM_001005361.3(DNM2):c.1851G>A (p.Lys617=)
|
rs2073060033
|
0.00001
|
NM_001005361.3(DNM2):c.1857G>A (p.Ser619=)
|
rs377009386
|
0.00001
|
NM_001005361.3(DNM2):c.1872C>T (p.Gly624=)
|
rs774256221
|
0.00001
|
NM_001005361.3(DNM2):c.1893+11G>A
|
rs763530224
|
0.00001
|
NM_001005361.3(DNM2):c.1893+14C>A
|
rs2073062600
|
0.00001
|
NM_001005361.3(DNM2):c.1894-8G>A
|
rs558330407
|
0.00001
|
NM_001005361.3(DNM2):c.1894-9C>T
|
rs377410182
|
0.00001
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
rs749994173
|
0.00001
|
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)
|
rs753175954
|
0.00001
|
NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=)
|
rs754264521
|
0.00001
|
NM_001005361.3(DNM2):c.2017G>A (p.Asp673Asn)
|
rs1423993325
|
0.00001
|
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val)
|
rs1381561772
|
0.00001
|
NM_001005361.3(DNM2):c.2059-4G>A
|
rs755212019
|
0.00001
|
NM_001005361.3(DNM2):c.2097A>G (p.Leu699=)
|
rs572608190
|
0.00001
|
NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly)
|
rs1435133623
|
0.00001
|
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu)
|
rs745382488
|
0.00001
|
NM_001005361.3(DNM2):c.2135C>T (p.Ser712Leu)
|
rs763393555
|
0.00001
|
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
|
rs763927287
|
0.00001
|
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
|
rs753677038
|
0.00001
|
NM_001005361.3(DNM2):c.2158G>A (p.Asp720Asn)
|
rs1253996634
|
0.00001
|
NM_001005361.3(DNM2):c.216G>A (p.Gln72=)
|
rs368075301
|
0.00001
|
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
|
rs757876109
|
0.00001
|
NM_001005361.3(DNM2):c.2196G>A (p.Ala732=)
|
rs778166280
|
0.00001
|
NM_001005361.3(DNM2):c.219C>A (p.Leu73=)
|
rs372012614
|
0.00001
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
NM_001005361.3(DNM2):c.2208C>T (p.Ile736=)
|
rs755163979
|
0.00001
|
NM_001005361.3(DNM2):c.2209G>A (p.Gly737Ser)
|
rs774897265
|
0.00001
|
NM_001005361.3(DNM2):c.2223C>T (p.Thr741=)
|
rs1417413636
|
0.00001
|
NM_001005361.3(DNM2):c.2256C>T (p.Val752=)
|
rs751020224
|
0.00001
|
NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile)
|
rs754691182
|
0.00001
|
NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe)
|
rs375820696
|
0.00001
|
NM_001005361.3(DNM2):c.2271C>T (p.Leu757=)
|
rs749699725
|
0.00001
|
NM_001005361.3(DNM2):c.2292C>T (p.Ser764=)
|
rs779394836
|
0.00001
|
NM_001005361.3(DNM2):c.2326C>T (p.His776Tyr)
|
rs762624510
|
0.00001
|
NM_001005361.3(DNM2):c.2330C>T (p.Pro777Leu)
|
rs1282571887
|
0.00001
|
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile)
|
rs763624831
|
0.00001
|
NM_001005361.3(DNM2):c.2370G>C (p.Gly790=)
|
rs750852426
|
0.00001
|
NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser)
|
rs758644162
|
0.00001
|
NM_001005361.3(DNM2):c.2374C>A (p.Pro792Thr)
|
rs1443504332
|
0.00001
|
NM_001005361.3(DNM2):c.2391C>T (p.Pro797=)
|
rs777834732
|
0.00001
|
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser)
|
rs1237677745
|
0.00001
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
rs779081943
|
0.00001
|
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
|
rs138527500
|
0.00001
|
NM_001005361.3(DNM2):c.2430A>G (p.Pro810=)
|
rs1234478593
|
0.00001
|
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp)
|
rs2073292486
|
0.00001
|
NM_001005361.3(DNM2):c.243C>T (p.Ala81=)
|
rs755366581
|
0.00001
|
NM_001005361.3(DNM2):c.2497T>C (p.Ser833Pro)
|
rs1253864930
|
0.00001
|
NM_001005361.3(DNM2):c.2544-17C>G
|
rs945329439
|
0.00001
|
NM_001005361.3(DNM2):c.2544-19G>A
|
rs769617279
|
0.00001
|
NM_001005361.3(DNM2):c.2562G>A (p.Ala854=)
|
rs761141093
|
0.00001
|
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
|
rs774180125
|
0.00001
|
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys)
|
rs746818628
|
0.00001
|
NM_001005361.3(DNM2):c.266A>G (p.Lys89Arg)
|
rs1340636700
|
0.00001
|
NM_001005361.3(DNM2):c.267A>G (p.Lys89=)
|
rs748666756
|
0.00001
|
NM_001005361.3(DNM2):c.292C>T (p.Arg98Trp)
|
rs200408053
|
0.00001
|
NM_001005361.3(DNM2):c.30C>T (p.Ile10=)
|
rs1249596675
|
0.00001
|
NM_001005361.3(DNM2):c.320G>A (p.Arg107Lys)
|
rs761564812
|
0.00001
|
NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser)
|
rs1220312465
|
0.00001
|
NM_001005361.3(DNM2):c.33G>A (p.Pro11=)
|
rs779502758
|
0.00001
|
NM_001005361.3(DNM2):c.360C>T (p.Ile120=)
|
rs1057329372
|
0.00001
|
NM_001005361.3(DNM2):c.385+13G>C
|
rs377633348
|
0.00001
|
NM_001005361.3(DNM2):c.402C>T (p.Leu134=)
|
rs748069348
|
0.00001
|
NM_001005361.3(DNM2):c.439G>A (p.Asp147Asn)
|
rs370086632
|
0.00001
|
NM_001005361.3(DNM2):c.456C>T (p.Ile152=)
|
rs763409114
|
0.00001
|
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
|
rs1366377441
|
0.00001
|
NM_001005361.3(DNM2):c.579C>T (p.Val193=)
|
rs201924777
|
0.00001
|
NM_001005361.3(DNM2):c.592C>T (p.Leu198=)
|
rs770036756
|
0.00001
|
NM_001005361.3(DNM2):c.636G>T (p.Glu212Asp)
|
rs542515194
|
0.00001
|
NM_001005361.3(DNM2):c.63C>T (p.Ser21=)
|
rs763443182
|
0.00001
|
NM_001005361.3(DNM2):c.654C>T (p.Asp218=)
|
rs763948283
|
0.00001
|
NM_001005361.3(DNM2):c.681G>A (p.Leu227=)
|
rs770225926
|
0.00001
|
NM_001005361.3(DNM2):c.688+7C>T
|
rs1031505173
|
0.00001
|
NM_001005361.3(DNM2):c.688G>C (p.Gly230Arg)
|
rs1245632083
|
0.00001
|
NM_001005361.3(DNM2):c.689-3C>T
|
rs373330742
|
0.00001
|
NM_001005361.3(DNM2):c.699C>T (p.Gly233=)
|
rs751844947
|
0.00001
|
NM_001005361.3(DNM2):c.747T>C (p.Arg249=)
|
rs144331982
|
0.00001
|
NM_001005361.3(DNM2):c.800A>G (p.His267Arg)
|
rs1412618988
|
0.00001
|
NM_001005361.3(DNM2):c.807C>T (p.Ala269=)
|
rs752361306
|
0.00001
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
rs1217925152
|
0.00001
|
NM_001005361.3(DNM2):c.811C>T (p.Arg271Cys)
|
rs138128705
|
0.00001
|
NM_001005361.3(DNM2):c.819C>T (p.Gly273=)
|
rs1464745378
|
0.00001
|
NM_001005361.3(DNM2):c.81C>T (p.Cys27=)
|
rs534605878
|
0.00001
|
NM_001005361.3(DNM2):c.821C>T (p.Thr274Met)
|
rs746387165
|
0.00001
|
NM_001005361.3(DNM2):c.83A>T (p.His28Leu)
|
rs774962668
|
0.00001
|
NM_001005361.3(DNM2):c.858C>G (p.Thr286=)
|
rs542637338
|
0.00001
|
NM_001005361.3(DNM2):c.881C>T (p.Pro294Leu)
|
rs774185418
|
0.00001
|
NM_001005361.3(DNM2):c.88G>A (p.Asp30Asn)
|
rs1344949726
|
0.00001
|
NM_001005361.3(DNM2):c.900A>G (p.Leu300=)
|
rs1599552753
|
0.00001
|
NM_001005361.3(DNM2):c.915G>A (p.Leu305=)
|
rs773624569
|
0.00001
|
NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys)
|
rs370636702
|
0.00001
|
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg)
|
rs148105340
|
0.00001
|
NM_001005361.3(DNM2):c.952C>T (p.Arg318Trp)
|
rs778020908
|
0.00001
|
NM_001005361.3(DNM2):c.960C>T (p.Asp320=)
|
rs774137901
|
0.00001
|
NM_001005361.3(DNM2):c.992+8C>T
|
rs776457890
|
0.00001
|
NM_001005361.3(DNM2):c.993-5C>T
|
rs1465269872
|
0.00001
|
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=)
|
rs886063456
|
0.00001
|
NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=)
|
rs762785076
|
0.00001
|
NM_001005373.4(LRSAM1):c.1037A>G (p.Asn346Ser)
|
rs1188237904
|
0.00001
|
NM_001005373.4(LRSAM1):c.1043+18G>A
|
rs775108432
|
0.00001
|
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys)
|
rs773122117
|
0.00001
|
NM_001005373.4(LRSAM1):c.1076T>G (p.Leu359Arg)
|
rs1466479388
|
0.00001
|
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys)
|
rs1381062773
|
0.00001
|
NM_001005373.4(LRSAM1):c.1102C>G (p.Gln368Glu)
|
rs776814240
|
0.00001
|
NM_001005373.4(LRSAM1):c.1109T>C (p.Met370Thr)
|
rs377079293
|
0.00001
|
NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter)
|
rs752177472
|
0.00001
|
NM_001005373.4(LRSAM1):c.1152C>T (p.Asp384=)
|
rs760074620
|
0.00001
|
NM_001005373.4(LRSAM1):c.1160-7C>T
|
rs377144291
|
0.00001
|
NM_001005373.4(LRSAM1):c.1160C>A (p.Ser387Tyr)
|
rs758094270
|
0.00001
|
NM_001005373.4(LRSAM1):c.1161C>T (p.Ser387=)
|
rs763903913
|
0.00001
|
NM_001005373.4(LRSAM1):c.1168C>G (p.Gln390Glu)
|
rs1258411555
|
0.00001
|
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp)
|
rs749575647
|
0.00001
|
NM_001005373.4(LRSAM1):c.122T>C (p.Leu41Pro)
|
rs762731732
|
0.00001
|
NM_001005373.4(LRSAM1):c.1236C>T (p.Asn412=)
|
rs186139632
|
0.00001
|
NM_001005373.4(LRSAM1):c.1245G>A (p.Gln415=)
|
rs757101883
|
0.00001
|
NM_001005373.4(LRSAM1):c.1266C>T (p.Ala422=)
|
rs144095352
|
0.00001
|
NM_001005373.4(LRSAM1):c.1267G>A (p.Glu423Lys)
|
rs767351229
|
0.00001
|
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)
|
rs138226428
|
0.00001
|
NM_001005373.4(LRSAM1):c.1329C>T (p.Ile443=)
|
rs771415278
|
0.00001
|
NM_001005373.4(LRSAM1):c.1347+3G>T
|
rs375937623
|
0.00001
|
NM_001005373.4(LRSAM1):c.1348-6T>A
|
rs200130803
|
0.00001
|
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr)
|
rs765226810
|
0.00001
|
NM_001005373.4(LRSAM1):c.1423-13G>A
|
rs751110136
|
0.00001
|
NM_001005373.4(LRSAM1):c.1453C>T (p.Leu485=)
|
rs780956904
|
0.00001
|
NM_001005373.4(LRSAM1):c.1454T>C (p.Leu485Pro)
|
rs369939320
|
0.00001
|
NM_001005373.4(LRSAM1):c.1503+8G>C
|
rs761964249
|
0.00001
|
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys)
|
rs375737634
|
0.00001
|
NM_001005373.4(LRSAM1):c.1544T>A (p.Leu515His)
|
rs1835983507
|
0.00001
|
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu)
|
rs1468375975
|
0.00001
|
NM_001005373.4(LRSAM1):c.1572G>A (p.Gln524=)
|
rs746202048
|
0.00001
|
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln)
|
rs760321710
|
0.00001
|
NM_001005373.4(LRSAM1):c.1599+17T>G
|
rs368471851
|
0.00001
|
NM_001005373.4(LRSAM1):c.1599+18G>C
|
rs1406274226
|
0.00001
|
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=)
|
rs1316186546
|
0.00001
|
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile)
|
rs1400819662
|
0.00001
|
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs)
|
rs749012928
|
0.00001
|
NM_001005373.4(LRSAM1):c.1698+20G>A
|
rs749662590
|
0.00001
|
NM_001005373.4(LRSAM1):c.1699-3C>T
|
rs756218616
|
0.00001
|
NM_001005373.4(LRSAM1):c.1794C>T (p.Asp598=)
|
rs758898673
|
0.00001
|
NM_001005373.4(LRSAM1):c.17G>A (p.Arg6Gln)
|
rs778740625
|
0.00001
|
NM_001005373.4(LRSAM1):c.1802G>C (p.Ser601Thr)
|
rs201137230
|
0.00001
|
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)
|
rs747130246
|
0.00001
|
NM_001005373.4(LRSAM1):c.1836C>T (p.Gly612=)
|
rs577254396
|
0.00001
|
NM_001005373.4(LRSAM1):c.184G>A (p.Val62Ile)
|
rs570688892
|
0.00001
|
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly)
|
rs375938990
|
0.00001
|
NM_001005373.4(LRSAM1):c.1871G>A (p.Arg624Gln)
|
rs775743246
|
0.00001
|
NM_001005373.4(LRSAM1):c.1885C>T (p.Leu629=)
|
rs764391717
|
0.00001
|
NM_001005373.4(LRSAM1):c.1912+10C>T
|
rs1473393318
|
0.00001
|
NM_001005373.4(LRSAM1):c.1921C>T (p.Pro641Ser)
|
rs1479286608
|
0.00001
|
NM_001005373.4(LRSAM1):c.192G>A (p.Thr64=)
|
rs778625125
|
0.00001
|
NM_001005373.4(LRSAM1):c.1952C>T (p.Ala651Val)
|
rs777233045
|
0.00001
|
NM_001005373.4(LRSAM1):c.1993C>G (p.Pro665Ala)
|
rs749204843
|
0.00001
|
NM_001005373.4(LRSAM1):c.2016C>G (p.Ala672=)
|
rs1229154466
|
0.00001
|
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)
|
rs1315010600
|
0.00001
|
NM_001005373.4(LRSAM1):c.2041C>T (p.Arg681Trp)
|
rs773899723
|
0.00001
|
NM_001005373.4(LRSAM1):c.2046G>A (p.Glu682=)
|
rs767249563
|
0.00001
|
NM_001005373.4(LRSAM1):c.206C>G (p.Ser69Cys)
|
rs942116544
|
0.00001
|
NM_001005373.4(LRSAM1):c.2094G>A (p.Gln698=)
|
rs752678501
|
0.00001
|
NM_001005373.4(LRSAM1):c.2095T>C (p.Cys699Arg)
|
rs1341295542
|
0.00001
|
NM_001005373.4(LRSAM1):c.2122C>A (p.Leu708Met)
|
rs1836448549
|
0.00001
|
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His)
|
rs770106776
|
0.00001
|
NM_001005373.4(LRSAM1):c.2140G>A (p.Ala714Thr)
|
rs527668507
|
0.00001
|
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys)
|
rs772786050
|
0.00001
|
NM_001005373.4(LRSAM1):c.2153G>A (p.Arg718His)
|
rs764890552
|
0.00001
|
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp)
|
rs752596738
|
0.00001
|
NM_001005373.4(LRSAM1):c.252+10C>A
|
rs765686374
|
0.00001
|
NM_001005373.4(LRSAM1):c.259G>T (p.Asp87Tyr)
|
rs1172570035
|
0.00001
|
NM_001005373.4(LRSAM1):c.261T>G (p.Asp87Glu)
|
rs746714138
|
0.00001
|
NM_001005373.4(LRSAM1):c.274C>A (p.Gln92Lys)
|
rs1231990557
|
0.00001
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
NM_001005373.4(LRSAM1):c.300G>A (p.Leu100=)
|
rs758812956
|
0.00001
|
NM_001005373.4(LRSAM1):c.306G>C (p.Gln102His)
|
rs1392534147
|
0.00001
|
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala)
|
rs1324443410
|
0.00001
|
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)
|
rs143910539
|
0.00001
|
NM_001005373.4(LRSAM1):c.407-10G>A
|
rs916806387
|
0.00001
|
NM_001005373.4(LRSAM1):c.435C>T (p.Thr145=)
|
rs781577020
|
0.00001
|
NM_001005373.4(LRSAM1):c.449G>A (p.Arg150Gln)
|
rs200115008
|
0.00001
|
NM_001005373.4(LRSAM1):c.513C>T (p.His171=)
|
rs757426906
|
0.00001
|
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His)
|
rs1255236822
|
0.00001
|
NM_001005373.4(LRSAM1):c.544G>A (p.Ala182Thr)
|
rs780636250
|
0.00001
|
NM_001005373.4(LRSAM1):c.551C>T (p.Ala184Val)
|
rs947752458
|
0.00001
|
NM_001005373.4(LRSAM1):c.564G>A (p.Pro188=)
|
rs774399646
|
0.00001
|
NM_001005373.4(LRSAM1):c.567G>A (p.Pro189=)
|
rs761890031
|
0.00001
|
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val)
|
rs542077582
|
0.00001
|
NM_001005373.4(LRSAM1):c.5C>T (p.Pro2Leu)
|
rs553074777
|
0.00001
|
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu)
|
rs746274685
|
0.00001
|
NM_001005373.4(LRSAM1):c.63G>A (p.Gln21=)
|
rs1057521344
|
0.00001
|
NM_001005373.4(LRSAM1):c.64A>T (p.Met22Leu)
|
rs769236666
|
0.00001
|
NM_001005373.4(LRSAM1):c.694C>T (p.Arg232Trp)
|
rs754527468
|
0.00001
|
NM_001005373.4(LRSAM1):c.702C>T (p.Ser234=)
|
rs777755879
|
0.00001
|
NM_001005373.4(LRSAM1):c.75A>C (p.Ala25=)
|
rs754374008
|
0.00001
|
NM_001005373.4(LRSAM1):c.775A>T (p.Arg259Trp)
|
rs548898578
|
0.00001
|
NM_001005373.4(LRSAM1):c.780+13C>T
|
rs1451126007
|
0.00001
|
NM_001005373.4(LRSAM1):c.781-17G>A
|
rs202170746
|
0.00001
|
NM_001005373.4(LRSAM1):c.786G>A (p.Gln262=)
|
rs748439646
|
0.00001
|
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys)
|
rs1414933191
|
0.00001
|
NM_001005373.4(LRSAM1):c.821T>C (p.Leu274Pro)
|
rs1160703093
|
0.00001
|
NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser)
|
rs1564248714
|
0.00001
|
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=)
|
rs548270854
|
0.00001
|
NM_001005373.4(LRSAM1):c.849G>A (p.Gln283=)
|
rs375636993
|
0.00001
|
NM_001005373.4(LRSAM1):c.893C>T (p.Thr298Met)
|
rs747368361
|
0.00001
|
NM_001005373.4(LRSAM1):c.968G>A (p.Arg323Gln)
|
rs776157689
|
0.00001
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter)
|
rs1156243243
|
0.00001
|
NM_001005373.4(LRSAM1):c.98T>G (p.Ile33Ser)
|
rs1276292442
|
0.00001
|
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)
|
rs779199750
|
0.00001
|
NM_001122955.4(BSCL2):c.1005+18C>A
|
rs1474695153
|
0.00001
|
NM_001122955.4(BSCL2):c.1006-4A>C
|
rs751265217
|
0.00001
|
NM_001122955.4(BSCL2):c.1016G>A (p.Arg339Gln)
|
rs757850010
|
0.00001
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp)
|
rs767820877
|
0.00001
|
NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=)
|
rs769021944
|
0.00001
|
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)
|
rs749917957
|
0.00001
|
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)
|
rs781022347
|
0.00001
|
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
|
rs113336810
|
0.00001
|
NM_001122955.4(BSCL2):c.1096A>G (p.Thr366Ala)
|
rs776379711
|
0.00001
|
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=)
|
rs746737457
|
0.00001
|
NM_001122955.4(BSCL2):c.1106C>T (p.Ser369Leu)
|
rs771698323
|
0.00001
|
NM_001122955.4(BSCL2):c.1153+16C>T
|
rs369798542
|
0.00001
|
NM_001122955.4(BSCL2):c.1153+7C>T
|
rs758675404
|
0.00001
|
NM_001122955.4(BSCL2):c.1153+8G>A
|
rs372839524
|
0.00001
|
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)
|
rs779682500
|
0.00001
|
NM_001122955.4(BSCL2):c.1234+19C>T
|
rs748453195
|
0.00001
|
NM_001122955.4(BSCL2):c.1234+6G>A
|
rs762726296
|
0.00001
|
NM_001122955.4(BSCL2):c.1235-17T>C
|
rs764000384
|
0.00001
|
NM_001122955.4(BSCL2):c.1235-4C>T
|
rs775246044
|
0.00001
|
NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=)
|
rs768646836
|
0.00001
|
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=)
|
rs776343859
|
0.00001
|
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)
|
rs748736063
|
0.00001
|
NM_001122955.4(BSCL2):c.1281_1286dup (p.428PA[4])
|
rs1383028616
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=)
|
rs376418772
|
0.00001
|
NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser)
|
rs1060503382
|
0.00001
|
NM_001122955.4(BSCL2):c.1361G>A (p.Arg454Gln)
|
rs143017094
|
0.00001
|
NM_001122955.4(BSCL2):c.209C>T (p.Pro70Leu)
|
rs764226928
|
0.00001
|
NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala)
|
rs2083513120
|
0.00001
|
NM_001122955.4(BSCL2):c.249C>T (p.Val83=)
|
rs746722132
|
0.00001
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser)
|
rs756668260
|
0.00001
|
NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu)
|
rs568354548
|
0.00001
|
NM_001122955.4(BSCL2):c.336C>G (p.Leu112=)
|
rs545775232
|
0.00001
|
NM_001122955.4(BSCL2):c.344C>T (p.Ser115Phe)
|
rs765023622
|
0.00001
|
NM_001122955.4(BSCL2):c.345C>T (p.Ser115=)
|
rs200922424
|
0.00001
|
NM_001122955.4(BSCL2):c.389T>C (p.Val130Ala)
|
rs1471285147
|
0.00001
|
NM_001122955.4(BSCL2):c.405-11A>G
|
rs1434874435
|
0.00001
|
NM_001122955.4(BSCL2):c.408C>T (p.Thr136=)
|
rs754001369
|
0.00001
|
NM_001122955.4(BSCL2):c.423C>T (p.Ser141=)
|
rs756135904
|
0.00001
|
NM_001122955.4(BSCL2):c.441C>T (p.Ser147=)
|
rs267603078
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001122955.4(BSCL2):c.462G>A (p.Ser154=)
|
rs766801709
|
0.00001
|
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)
|
rs137930278
|
0.00001
|
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln)
|
rs768780378
|
0.00001
|
NM_001122955.4(BSCL2):c.486+1G>A
|
rs1011200048
|
0.00001
|
NM_001122955.4(BSCL2):c.487-9C>T
|
rs768857448
|
0.00001
|
NM_001122955.4(BSCL2):c.505C>T (p.Pro169Ser)
|
rs878855171
|
0.00001
|
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=)
|
rs145393127
|
0.00001
|
NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu)
|
rs377609967
|
0.00001
|
NM_001122955.4(BSCL2):c.514G>T (p.Val172Phe)
|
rs1945403974
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs)
|
rs1244155207
|
0.00001
|
NM_001122955.4(BSCL2):c.585C>G (p.Ser195=)
|
rs571672404
|
0.00001
|
NM_001122955.4(BSCL2):c.605G>A (p.Arg202Gln)
|
rs771534001
|
0.00001
|
NM_001122955.4(BSCL2):c.631-6C>T
|
rs768294248
|
0.00001
|
NM_001122955.4(BSCL2):c.641A>G (p.His214Arg)
|
rs544020840
|
0.00001
|
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile)
|
rs755623017
|
0.00001
|
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=)
|
rs773290851
|
0.00001
|
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)
|
rs137852975
|
0.00001
|
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=)
|
rs774120735
|
0.00001
|
NM_001122955.4(BSCL2):c.774G>A (p.Pro258=)
|
rs754629431
|
0.00001
|
NM_001122955.4(BSCL2):c.808C>T (p.Arg270Cys)
|
rs751664305
|
0.00001
|
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)
|
rs137852971
|
0.00001
|
NM_001122955.4(BSCL2):c.843C>T (p.His281=)
|
rs1188344099
|
0.00001
|
NM_001122955.4(BSCL2):c.849C>T (p.His283=)
|
rs911982128
|
0.00001
|
NM_001122955.4(BSCL2):c.864-6C>T
|
rs1945308147
|
0.00001
|
NM_001122955.4(BSCL2):c.864-8T>C
|
rs1373992341
|
0.00001
|
NM_001122955.4(BSCL2):c.902T>C (p.Ile301Thr)
|
rs776986432
|
0.00001
|
NM_001122955.4(BSCL2):c.927C>T (p.Phe309=)
|
rs1346512157
|
0.00001
|
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)
|
rs748195771
|
0.00001
|
NM_001122955.4(BSCL2):c.940G>A (p.Val314Met)
|
rs916916343
|
0.00001
|
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=)
|
rs1350933194
|
0.00001
|
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)
|
rs587777606
|
0.00001
|
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)
|
rs773431994
|
0.00001
|
NM_001136472.2(LITAF):c.102C>A (p.Pro34=)
|
rs369748649
|
0.00001
|
NM_001136472.2(LITAF):c.124G>T (p.Gly42Trp)
|
rs775942980
|
0.00001
|
NM_001136472.2(LITAF):c.12A>G (p.Pro4=)
|
rs760120748
|
0.00001
|
NM_001136472.2(LITAF):c.151C>T (p.Pro51Ser)
|
rs752978718
|
0.00001
|
NM_001136472.2(LITAF):c.157G>A (p.Gly53Arg)
|
rs755155866
|
0.00001
|
NM_001136472.2(LITAF):c.172C>T (p.Pro58Ser)
|
rs1342498271
|
0.00001
|
NM_001136472.2(LITAF):c.173C>T (p.Pro58Leu)
|
rs1313689306
|
0.00001
|
NM_001136472.2(LITAF):c.17C>T (p.Pro6Leu)
|
rs774532093
|
0.00001
|
NM_001136472.2(LITAF):c.223A>G (p.Thr75Ala)
|
rs756539992
|
0.00001
|
NM_001136472.2(LITAF):c.233C>T (p.Thr78Met)
|
rs1228516620
|
0.00001
|
NM_001136472.2(LITAF):c.243G>A (p.Val81=)
|
rs765108397
|
0.00001
|
NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu)
|
rs761746674
|
0.00001
|
NM_001136472.2(LITAF):c.25G>A (p.Ala9Thr)
|
rs1267030887
|
0.00001
|
NM_001136472.2(LITAF):c.269G>A (p.Arg90His)
|
rs200789696
|
0.00001
|
NM_001136472.2(LITAF):c.26C>T (p.Ala9Val)
|
rs529766640
|
0.00001
|
NM_001136472.2(LITAF):c.369C>T (p.Cys123=)
|
rs762993631
|
0.00001
|
NM_001136472.2(LITAF):c.377+3G>A
|
rs202181952
|
0.00001
|
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val)
|
rs201512884
|
0.00001
|
NM_001136472.2(LITAF):c.399C>T (p.Phe133=)
|
rs1012676457
|
0.00001
|
NM_001136472.2(LITAF):c.481T>C (p.Leu161=)
|
rs376296739
|
0.00001
|
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479
|
0.00001
|
NM_001136472.2(LITAF):c.99C>T (p.Tyr33=)
|
rs767658806
|
0.00001
|
NM_001303256.3(MORC2):c.1038C>T (p.Ala346=)
|
rs199527803
|
0.00001
|
NM_001303256.3(MORC2):c.1039G>A (p.Asp347Asn)
|
rs138994326
|
0.00001
|
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly)
|
rs1370510062
|
0.00001
|
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=)
|
rs768240412
|
0.00001
|
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)
|
rs2040679348
|
0.00001
|
NM_001303256.3(MORC2):c.1357G>A (p.Asp453Asn)
|
rs1007541711
|
0.00001
|
NM_001303256.3(MORC2):c.1369+5T>A
|
rs147800268
|
0.00001
|
NM_001303256.3(MORC2):c.1370-3C>T
|
rs770913783
|
0.00001
|
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
|
rs367704663
|
0.00001
|
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=)
|
rs1345120667
|
0.00001
|
NM_001303256.3(MORC2):c.1499-3C>T
|
rs1266866371
|
0.00001
|
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
|
rs749364295
|
0.00001
|
NM_001303256.3(MORC2):c.158-19G>A
|
rs750567241
|
0.00001
|
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)
|
rs576981610
|
0.00001
|
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
|
rs750003469
|
0.00001
|
NM_001303256.3(MORC2):c.164G>A (p.Arg55Gln)
|
rs574524678
|
0.00001
|
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
|
rs1338480863
|
0.00001
|
NM_001303256.3(MORC2):c.1705C>T (p.Arg569Cys)
|
rs267606222
|
0.00001
|
NM_001303256.3(MORC2):c.1722G>A (p.Lys574=)
|
rs1478891412
|
0.00001
|
NM_001303256.3(MORC2):c.1738-12T>A
|
rs561770621
|
0.00001
|
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
|
rs548292999
|
0.00001
|
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
|
rs778753246
|
0.00001
|
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)
|
rs781481050
|
0.00001
|
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
|
rs200774292
|
0.00001
|
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=)
|
rs1214680334
|
0.00001
|
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala)
|
rs1555937777
|
0.00001
|
NM_001303256.3(MORC2):c.1835G>A (p.Arg612His)
|
rs763388376
|
0.00001
|
NM_001303256.3(MORC2):c.1841G>A (p.Arg614Gln)
|
rs1399556111
|
0.00001
|
NM_001303256.3(MORC2):c.1872C>T (p.Asn624=)
|
rs199783160
|
0.00001
|
NM_001303256.3(MORC2):c.1874C>G (p.Ala625Gly)
|
rs773737902
|
0.00001
|
NM_001303256.3(MORC2):c.1924C>T (p.Arg642Ter)
|
rs373881103
|
0.00001
|
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
|
rs765892287
|
0.00001
|
NM_001303256.3(MORC2):c.1940T>C (p.Ile647Thr)
|
rs754318159
|
0.00001
|
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
|
rs200703581
|
0.00001
|
NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys)
|
rs1402143255
|
0.00001
|
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
|
rs563612262
|
0.00001
|
NM_001303256.3(MORC2):c.2043C>T (p.Leu681=)
|
rs908389720
|
0.00001
|
NM_001303256.3(MORC2):c.2072T>C (p.Leu691Pro)
|
rs142307145
|
0.00001
|
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro)
|
rs897158764
|
0.00001
|
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln)
|
rs768807060
|
0.00001
|
NM_001303256.3(MORC2):c.2171A>G (p.Glu724Gly)
|
rs1031845854
|
0.00001
|
NM_001303256.3(MORC2):c.2188T>A (p.Ser730Thr)
|
rs759091855
|
0.00001
|
NM_001303256.3(MORC2):c.2194-16G>A
|
rs1569189880
|
0.00001
|
NM_001303256.3(MORC2):c.2207G>A (p.Arg736Gln)
|
rs957333682
|
0.00001
|
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
|
rs142840638
|
0.00001
|
NM_001303256.3(MORC2):c.227-5T>C
|
rs763643471
|
0.00001
|
NM_001303256.3(MORC2):c.227-8C>T
|
rs773796930
|
0.00001
|
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
|
rs762809030
|
0.00001
|
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp)
|
rs369384586
|
0.00001
|
NM_001303256.3(MORC2):c.2292T>G (p.Phe764Leu)
|
rs1396767941
|
0.00001
|
NM_001303256.3(MORC2):c.2318C>T (p.Ser773Leu)
|
rs554785074
|
0.00001
|
NM_001303256.3(MORC2):c.2326-10C>T
|
rs779612677
|
0.00001
|
NM_001303256.3(MORC2):c.2376G>A (p.Gln792=)
|
rs967298362
|
0.00001
|
NM_001303256.3(MORC2):c.2381-10A>G
|
rs2040599171
|
0.00001
|
NM_001303256.3(MORC2):c.2381-3C>T
|
rs1309634022
|
0.00001
|
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)
|
rs370149816
|
0.00001
|
NM_001303256.3(MORC2):c.2411A>G (p.Asn804Ser)
|
rs759734334
|
0.00001
|
NM_001303256.3(MORC2):c.2432G>A (p.Arg811His)
|
rs1163301326
|
0.00001
|
NM_001303256.3(MORC2):c.2467C>T (p.Arg823Trp)
|
rs2040597155
|
0.00001
|
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)
|
rs760341830
|
0.00001
|
NM_001303256.3(MORC2):c.2522+11A>C
|
rs774384535
|
0.00001
|
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)
|
rs767254485
|
0.00001
|
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
|
rs372297066
|
0.00001
|
NM_001303256.3(MORC2):c.2708C>G (p.Thr903Ser)
|
rs762499940
|
0.00001
|
NM_001303256.3(MORC2):c.2725G>A (p.Asp909Asn)
|
rs770586964
|
0.00001
|
NM_001303256.3(MORC2):c.2739G>A (p.Gln913=)
|
rs751197811
|
0.00001
|
NM_001303256.3(MORC2):c.2747+16G>T
|
rs376197429
|
0.00001
|
NM_001303256.3(MORC2):c.2747+6T>C
|
rs368417146
|
0.00001
|
NM_001303256.3(MORC2):c.2754T>C (p.Cys918=)
|
rs767914603
|
0.00001
|
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
|
rs768569356
|
0.00001
|
NM_001303256.3(MORC2):c.2802G>T (p.Leu934=)
|
rs1602477274
|
0.00001
|
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu)
|
rs749060708
|
0.00001
|
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)
|
rs750335952
|
0.00001
|
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)
|
rs781162787
|
0.00001
|
NM_001303256.3(MORC2):c.2903G>A (p.Arg968His)
|
rs370918395
|
0.00001
|
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)
|
rs1485425350
|
0.00001
|
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)
|
rs1307310663
|
0.00001
|
NM_001303256.3(MORC2):c.2962C>T (p.Arg988Cys)
|
rs748910060
|
0.00001
|
NM_001303256.3(MORC2):c.2963G>A (p.Arg988His)
|
rs747693260
|
0.00001
|
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
|
rs745339848
|
0.00001
|
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=)
|
rs777775099
|
0.00001
|
NM_001303256.3(MORC2):c.3028G>C (p.Glu1010Gln)
|
rs1202036526
|
0.00001
|
NM_001303256.3(MORC2):c.3030+6C>G
|
rs1388656367
|
0.00001
|
NM_001303256.3(MORC2):c.3030+8C>T
|
rs376367685
|
0.00001
|
NM_001303256.3(MORC2):c.3031-4C>G
|
rs373542143
|
0.00001
|
NM_001303256.3(MORC2):c.317+19T>C
|
rs746032614
|
0.00001
|
NM_001303256.3(MORC2):c.427-4A>G
|
rs749183153
|
0.00001
|
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)
|
rs768748502
|
0.00001
|
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
|
rs370868047
|
0.00001
|
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)
|
rs1316437948
|
0.00001
|
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
|
rs1602491814
|
0.00001
|
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)
|
rs1457131129
|
0.00001
|
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
|
rs144248516
|
0.00001
|
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
|
rs750265510
|
0.00001
|
NM_001303256.3(MORC2):c.562T>A (p.Phe188Ile)
|
rs1360752364
|
0.00001
|
NM_001303256.3(MORC2):c.598A>G (p.Ile200Val)
|
rs765371898
|
0.00001
|
NM_001303256.3(MORC2):c.612C>T (p.Leu204=)
|
rs139327383
|
0.00001
|
NM_001303256.3(MORC2):c.648A>T (p.Ile216=)
|
rs2040747659
|
0.00001
|
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
|
rs375266158
|
0.00001
|
NM_001303256.3(MORC2):c.69-16G>A
|
rs922532667
|
0.00001
|
NM_001303256.3(MORC2):c.69-7A>G
|
rs1425735627
|
0.00001
|
NM_001303256.3(MORC2):c.709C>T (p.Arg237Trp)
|
rs762233089
|
0.00001
|
NM_001303256.3(MORC2):c.768C>T (p.Phe256=)
|
rs1247963621
|
0.00001
|
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe)
|
rs987083509
|
0.00001
|
NM_001303256.3(MORC2):c.825-3C>A
|
rs752040112
|
0.00001
|
NM_001303256.3(MORC2):c.828G>A (p.Met276Ile)
|
rs1235679626
|
0.00001
|
NM_001303256.3(MORC2):c.864G>A (p.Ala288=)
|
rs753519214
|
0.00001
|
NM_001303256.3(MORC2):c.894A>G (p.Val298=)
|
rs562612569
|
0.00001
|
NM_001303256.3(MORC2):c.905-8G>T
|
rs1349605211
|
0.00001
|
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val)
|
rs554250414
|
0.00001
|
NM_001303256.3(MORC2):c.927A>G (p.Ala309=)
|
rs1291021388
|
0.00001
|
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)
|
rs751140985
|
0.00001
|
NM_001303256.3(MORC2):c.946T>C (p.Leu316=)
|
rs762989183
|
0.00001
|
NM_001303256.3(MORC2):c.958C>T (p.Leu320=)
|
rs376013637
|
0.00001
|
NM_001303256.3(MORC2):c.987+10C>T
|
rs1030059573
|
0.00001
|
NM_001365951.3(KIF1B):c.1005T>C (p.Asp335=)
|
rs777030180
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001365951.3(KIF1B):c.109A>G (p.Ile37Val)
|
rs779530504
|
0.00001
|
NM_001365951.3(KIF1B):c.1133G>A (p.Arg378Gln)
|
rs750790168
|
0.00001
|
NM_001365951.3(KIF1B):c.1151G>A (p.Arg384His)
|
rs753524217
|
0.00001
|
NM_001365951.3(KIF1B):c.1346G>A (p.Ser449Asn)
|
rs776678008
|
0.00001
|
NM_001365951.3(KIF1B):c.1393A>T (p.Met465Leu)
|
rs560710521
|
0.00001
|
NM_001365951.3(KIF1B):c.1435-9C>T
|
rs200798756
|
0.00001
|
NM_001365951.3(KIF1B):c.1515-5C>T
|
rs776534234
|
0.00001
|
NM_001365951.3(KIF1B):c.1590+15T>C
|
rs769267621
|
0.00001
|
NM_001365951.3(KIF1B):c.165C>T (p.Ser55=)
|
rs1277944646
|
0.00001
|
NM_001365951.3(KIF1B):c.1665T>A (p.Ile555=)
|
rs200760130
|
0.00001
|
NM_001365951.3(KIF1B):c.1680A>G (p.Gln560=)
|
rs765720258
|
0.00001
|
NM_001365951.3(KIF1B):c.1696C>T (p.Arg566Cys)
|
rs985819179
|
0.00001
|
NM_001365951.3(KIF1B):c.1737G>A (p.Glu579=)
|
rs747880909
|
0.00001
|
NM_001365951.3(KIF1B):c.1751G>T (p.Arg584Leu)
|
rs1169892801
|
0.00001
|
NM_001365951.3(KIF1B):c.1765A>G (p.Asn589Asp)
|
rs1415991152
|
0.00001
|
NM_001365951.3(KIF1B):c.1818C>T (p.Tyr606=)
|
rs760404775
|
0.00001
|
NM_001365951.3(KIF1B):c.1836G>A (p.Val612=)
|
rs370014452
|
0.00001
|
NM_001365951.3(KIF1B):c.1855C>T (p.Arg619Cys)
|
rs752648536
|
0.00001
|
NM_001365951.3(KIF1B):c.185C>T (p.Pro62Leu)
|
rs1262165101
|
0.00001
|
NM_001365951.3(KIF1B):c.1911G>A (p.Pro637=)
|
rs138876135
|
0.00001
|
NM_001365951.3(KIF1B):c.1922G>A (p.Arg641Gln)
|
rs1357742021
|
0.00001
|
NM_001365951.3(KIF1B):c.1938G>T (p.Lys646Asn)
|
rs1458739115
|
0.00001
|
NM_001365951.3(KIF1B):c.2042+16G>A
|
rs1427727123
|
0.00001
|
NM_001365951.3(KIF1B):c.2042+20C>T
|
rs1190683777
|
0.00001
|
NM_001365951.3(KIF1B):c.2120A>T (p.Tyr707Phe)
|
rs140536329
|
0.00001
|
NM_001365951.3(KIF1B):c.2196A>G (p.Glu732=)
|
rs1308456824
|
0.00001
|
NM_001365951.3(KIF1B):c.2202G>A (p.Glu734=)
|
rs761475548
|
0.00001
|
NM_001365951.3(KIF1B):c.2209+17G>A
|
rs1651464554
|
0.00001
|
NM_001365951.3(KIF1B):c.2254C>T (p.Arg752Trp)
|
rs368066001
|
0.00001
|
NM_001365951.3(KIF1B):c.2283A>C (p.Ser761=)
|
rs1349158879
|
0.00001
|
NM_001365951.3(KIF1B):c.2304C>T (p.Gly768=)
|
rs1467745413
|
0.00001
|
NM_001365951.3(KIF1B):c.2461C>T (p.Pro821Ser)
|
rs1381096991
|
0.00001
|
NM_001365951.3(KIF1B):c.2468C>T (p.Thr823Ile)
|
rs901431074
|
0.00001
|
NM_001365951.3(KIF1B):c.2535C>T (p.Leu845=)
|
rs1411529894
|
0.00001
|
NM_001365951.3(KIF1B):c.2537+15A>G
|
rs757030966
|
0.00001
|
NM_001365951.3(KIF1B):c.253G>T (p.Ala85Ser)
|
rs765957120
|
0.00001
|
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly)
|
rs779626536
|
0.00001
|
NM_001365951.3(KIF1B):c.2598C>A (p.Ala866=)
|
rs372972101
|
0.00001
|
NM_001365951.3(KIF1B):c.2624C>T (p.Thr875Ile)
|
rs757797211
|
0.00001
|
NM_001365951.3(KIF1B):c.2635C>G (p.Pro879Ala)
|
rs767998327
|
0.00001
|
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys)
|
rs755850268
|
0.00001
|
NM_001365951.3(KIF1B):c.2676-7T>C
|
rs774505807
|
0.00001
|
NM_001365951.3(KIF1B):c.2703C>T (p.Asn901=)
|
rs753514870
|
0.00001
|
NM_001365951.3(KIF1B):c.2704G>A (p.Glu902Lys)
|
rs368663292
|
0.00001
|
NM_001365951.3(KIF1B):c.2719C>T (p.Arg907Cys)
|
rs1334915559
|
0.00001
|
NM_001365951.3(KIF1B):c.2724A>C (p.Thr908=)
|
rs1428919885
|
0.00001
|
NM_001365951.3(KIF1B):c.2733C>A (p.Pro911=)
|
rs746863711
|
0.00001
|
NM_001365951.3(KIF1B):c.2748C>T (p.Ala916=)
|
rs1282913811
|
0.00001
|
NM_001365951.3(KIF1B):c.2749G>A (p.Asp917Asn)
|
rs768941996
|
0.00001
|
NM_001365951.3(KIF1B):c.2818G>A (p.Val940Met)
|
rs764144206
|
0.00001
|
NM_001365951.3(KIF1B):c.2838C>T (p.Asp946=)
|
rs138353787
|
0.00001
|
NM_001365951.3(KIF1B):c.2839G>T (p.Ala947Ser)
|
rs748284088
|
0.00001
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs141942131
|
0.00001
|
NM_001365951.3(KIF1B):c.287A>G (p.Tyr96Cys)
|
rs774337231
|
0.00001
|
NM_001365951.3(KIF1B):c.2886G>A (p.Pro962=)
|
rs763515223
|
0.00001
|
NM_001365951.3(KIF1B):c.2925-20C>T
|
rs777092549
|
0.00001
|
NM_001365951.3(KIF1B):c.2925-3T>C
|
rs958025550
|
0.00001
|
NM_001365951.3(KIF1B):c.2958C>T (p.Pro986=)
|
rs369616673
|
0.00001
|
NM_001365951.3(KIF1B):c.2959G>A (p.Val987Met)
|
rs768340319
|
0.00001
|
NM_001365951.3(KIF1B):c.3039C>T (p.Ile1013=)
|
rs781205034
|
0.00001
|
NM_001365951.3(KIF1B):c.3043+4G>A
|
rs1331772399
|
0.00001
|
NM_001365951.3(KIF1B):c.3130-20T>C
|
rs570479803
|
0.00001
|
NM_001365951.3(KIF1B):c.3134A>G (p.Asp1045Gly)
|
rs775328436
|
0.00001
|
NM_001365951.3(KIF1B):c.3156T>C (p.Thr1052=)
|
rs758814481
|
0.00001
|
NM_001365951.3(KIF1B):c.3220A>G (p.Ile1074Val)
|
rs1171524410
|
0.00001
|
NM_001365951.3(KIF1B):c.3262T>G (p.Leu1088Val)
|
rs1001609597
|
0.00001
|
NM_001365951.3(KIF1B):c.3271A>G (p.Ser1091Gly)
|
rs753279755
|
0.00001
|
NM_001365951.3(KIF1B):c.3280C>T (p.Leu1094=)
|
rs1035683321
|
0.00001
|
NM_001365951.3(KIF1B):c.3349T>G (p.Phe1117Val)
|
rs180870886
|
0.00001
|
NM_001365951.3(KIF1B):c.345G>A (p.Gln115=)
|
rs1647936052
|
0.00001
|
NM_001365951.3(KIF1B):c.3514-10T>A
|
rs1303469727
|
0.00001
|
NM_001365951.3(KIF1B):c.3534A>G (p.Glu1178=)
|
rs1265416063
|
0.00001
|
NM_001365951.3(KIF1B):c.3565A>G (p.Ile1189Val)
|
rs190481457
|
0.00001
|
NM_001365951.3(KIF1B):c.3582T>C (p.Phe1194=)
|
rs1459410102
|
0.00001
|
NM_001365951.3(KIF1B):c.3625C>G (p.Leu1209Val)
|
rs1320246121
|
0.00001
|
NM_001365951.3(KIF1B):c.3630C>T (p.Asn1210=)
|
rs910542787
|
0.00001
|
NM_001365951.3(KIF1B):c.3632+16G>A
|
rs754113976
|
0.00001
|
NM_001365951.3(KIF1B):c.364-13T>G
|
rs773130922
|
0.00001
|
NM_001365951.3(KIF1B):c.3649C>T (p.Arg1217Cys)
|
rs763460099
|
0.00001
|
NM_001365951.3(KIF1B):c.3688+5G>A
|
rs373470177
|
0.00001
|
NM_001365951.3(KIF1B):c.3711G>A (p.Thr1237=)
|
rs766041029
|
0.00001
|
NM_001365951.3(KIF1B):c.3725G>T (p.Ser1242Ile)
|
rs745380720
|
0.00001
|
NM_001365951.3(KIF1B):c.3743G>A (p.Ser1248Asn)
|
rs1183079670
|
0.00001
|
NM_001365951.3(KIF1B):c.3754C>T (p.Leu1252Phe)
|
rs369250279
|
0.00001
|
NM_001365951.3(KIF1B):c.3772A>G (p.Ile1258Val)
|
rs746270104
|
0.00001
|
NM_001365951.3(KIF1B):c.3798-9A>G
|
rs1173696086
|
0.00001
|
NM_001365951.3(KIF1B):c.3827C>T (p.Ala1276Val)
|
rs747752091
|
0.00001
|
NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)
|
rs746980680
|
0.00001
|
NM_001365951.3(KIF1B):c.391A>G (p.Asn131Asp)
|
rs770849620
|
0.00001
|
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)
|
rs776533873
|
0.00001
|
NM_001365951.3(KIF1B):c.3935G>A (p.Arg1312His)
|
rs766432835
|
0.00001
|
NM_001365951.3(KIF1B):c.3949+9G>A
|
rs758193519
|
0.00001
|
NM_001365951.3(KIF1B):c.4055+10C>T
|
rs559939407
|
0.00001
|
NM_001365951.3(KIF1B):c.4078G>A (p.Val1360Met)
|
rs1553170068
|
0.00001
|
NM_001365951.3(KIF1B):c.4095G>A (p.Leu1365=)
|
rs770027202
|
0.00001
|
NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe)
|
rs760253167
|
0.00001
|
NM_001365951.3(KIF1B):c.4157C>T (p.Ser1386Leu)
|
rs1481645640
|
0.00001
|
NM_001365951.3(KIF1B):c.4195G>A (p.Val1399Ile)
|
rs770566165
|
0.00001
|
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
|
rs567728453
|
0.00001
|
NM_001365951.3(KIF1B):c.429+8C>T
|
rs756538021
|
0.00001
|
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr)
|
rs757899517
|
0.00001
|
NM_001365951.3(KIF1B):c.4304+12A>G
|
rs769354139
|
0.00001
|
NM_001365951.3(KIF1B):c.432G>A (p.Val144=)
|
rs1252261304
|
0.00001
|
NM_001365951.3(KIF1B):c.4444C>T (p.Arg1482Trp)
|
rs1461624745
|
0.00001
|
NM_001365951.3(KIF1B):c.4450C>T (p.Arg1484Cys)
|
rs1638533355
|
0.00001
|
NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)
|
rs1051917954
|
0.00001
|
NM_001365951.3(KIF1B):c.4512+8G>A
|
rs1203024685
|
0.00001
|
NM_001365951.3(KIF1B):c.4522A>G (p.Thr1508Ala)
|
rs78662124
|
0.00001
|
NM_001365951.3(KIF1B):c.4538T>C (p.Leu1513Pro)
|
rs745654802
|
0.00001
|
NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)
|
rs375130478
|
0.00001
|
NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn)
|
rs121908164
|
0.00001
|
NM_001365951.3(KIF1B):c.4582G>T (p.Asp1528Tyr)
|
rs1242181470
|
0.00001
|
NM_001365951.3(KIF1B):c.4600C>T (p.Leu1534Phe)
|
rs200971835
|
0.00001
|
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)
|
rs1011009249
|
0.00001
|
NM_001365951.3(KIF1B):c.4633A>G (p.Ile1545Val)
|
rs148387809
|
0.00001
|
NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr)
|
rs200255510
|
0.00001
|
NM_001365951.3(KIF1B):c.4684G>A (p.Glu1562Lys)
|
rs761322006
|
0.00001
|
NM_001365951.3(KIF1B):c.4697A>G (p.Tyr1566Cys)
|
rs1460523196
|
0.00001
|
NM_001365951.3(KIF1B):c.4776T>A (p.Thr1592=)
|
rs757529397
|
0.00001
|
NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser)
|
rs1409278786
|
0.00001
|
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
|
rs376471111
|
0.00001
|
NM_001365951.3(KIF1B):c.4850G>A (p.Arg1617Gln)
|
rs775481158
|
0.00001
|
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
|
rs758454220
|
0.00001
|
NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)
|
rs758879647
|
0.00001
|
NM_001365951.3(KIF1B):c.5003A>G (p.Gln1668Arg)
|
rs1638828437
|
0.00001
|
NM_001365951.3(KIF1B):c.5008G>A (p.Val1670Ile)
|
rs745444286
|
0.00001
|
NM_001365951.3(KIF1B):c.5014G>C (p.Ala1672Pro)
|
rs909290817
|
0.00001
|
NM_001365951.3(KIF1B):c.5097-11G>T
|
rs765592840
|
0.00001
|
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)
|
rs754479325
|
0.00001
|
NM_001365951.3(KIF1B):c.5177G>A (p.Arg1726His)
|
rs778439251
|
0.00001
|
NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu)
|
rs774464311
|
0.00001
|
NM_001365951.3(KIF1B):c.5289+12C>T
|
rs777701100
|
0.00001
|
NM_001365951.3(KIF1B):c.5289+15G>A
|
rs746880888
|
0.00001
|
NM_001365951.3(KIF1B):c.5291C>T (p.Thr1764Ile)
|
rs777106047
|
0.00001
|
NM_001365951.3(KIF1B):c.531T>C (p.Tyr177=)
|
rs769619599
|
0.00001
|
NM_001365951.3(KIF1B):c.5329G>T (p.Val1777Phe)
|
rs781002245
|
0.00001
|
NM_001365951.3(KIF1B):c.5348A>G (p.Asn1783Ser)
|
rs549813751
|
0.00001
|
NM_001365951.3(KIF1B):c.5369G>C (p.Trp1790Ser)
|
rs367884252
|
0.00001
|
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)
|
rs150737970
|
0.00001
|
NM_001365951.3(KIF1B):c.5407C>T (p.Arg1803Trp)
|
rs759957126
|
0.00001
|
NM_001365951.3(KIF1B):c.5408+16G>A
|
rs1444483640
|
0.00001
|
NM_001365951.3(KIF1B):c.5408+8G>A
|
rs374713551
|
0.00001
|
NM_001365951.3(KIF1B):c.5409-16C>T
|
rs781661292
|
0.00001
|
NM_001365951.3(KIF1B):c.5409-4A>G
|
rs904332359
|
0.00001
|
NM_001365951.3(KIF1B):c.5422C>T (p.Arg1808Cys)
|
rs1060501912
|
0.00001
|
NM_001365951.3(KIF1B):c.549G>C (p.Lys183Asn)
|
rs1308362049
|
0.00001
|
NM_001365951.3(KIF1B):c.564C>T (p.Ser188=)
|
rs774503326
|
0.00001
|
NM_001365951.3(KIF1B):c.574A>G (p.Ile192Val)
|
rs1332621585
|
0.00001
|
NM_001365951.3(KIF1B):c.5C>T (p.Ser2Leu)
|
rs1272900057
|
0.00001
|
NM_001365951.3(KIF1B):c.609-10G>A
|
rs1648575016
|
0.00001
|
NM_001365951.3(KIF1B):c.609-6A>C
|
rs1276227203
|
0.00001
|
NM_001365951.3(KIF1B):c.61A>G (p.Ser21Gly)
|
rs769237267
|
0.00001
|
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)
|
rs762280202
|
0.00001
|
NM_001365951.3(KIF1B):c.666G>A (p.Thr222=)
|
rs1648578056
|
0.00001
|
NM_001365951.3(KIF1B):c.721-15A>G
|
rs755866386
|
0.00001
|
NM_001365951.3(KIF1B):c.721-18G>A
|
rs770340038
|
0.00001
|
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln)
|
rs376807805
|
0.00001
|
NM_001365951.3(KIF1B):c.798+16A>G
|
rs938999422
|
0.00001
|
NM_001365951.3(KIF1B):c.798+8T>C
|
rs373158213
|
0.00001
|
NM_001365951.3(KIF1B):c.81C>T (p.Ile27=)
|
rs142464329
|
0.00001
|
NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)
|
rs141637645
|
0.00001
|
NM_001370298.3(FGD4):c.1098T>G (p.Asp366Glu)
|
rs765738675
|
0.00001
|
NM_001370298.3(FGD4):c.1101+14T>C
|
rs370504841
|
0.00001
|
NM_001370298.3(FGD4):c.1101+15C>A
|
rs765678800
|
0.00001
|
NM_001370298.3(FGD4):c.1102-10T>G
|
rs757366254
|
0.00001
|
NM_001370298.3(FGD4):c.1102-5T>A
|
rs1459339879
|
0.00001
|
NM_001370298.3(FGD4):c.1136G>A (p.Arg379Gln)
|
rs372866502
|
0.00001
|
NM_001370298.3(FGD4):c.1194T>C (p.Asn398=)
|
rs201678865
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001370298.3(FGD4):c.1235G>A (p.Arg412Gln)
|
rs756169087
|
0.00001
|
NM_001370298.3(FGD4):c.1248-13A>G
|
rs551481786
|
0.00001
|
NM_001370298.3(FGD4):c.1248-17T>C
|
rs376455877
|
0.00001
|
NM_001370298.3(FGD4):c.1276C>T (p.Leu426Phe)
|
rs1204289708
|
0.00001
|
NM_001370298.3(FGD4):c.1348G>A (p.Val450Ile)
|
rs768392772
|
0.00001
|
NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys)
|
rs1131691854
|
0.00001
|
NM_001370298.3(FGD4):c.1404+5T>C
|
rs373712001
|
0.00001
|
NM_001370298.3(FGD4):c.1472G>A (p.Arg491Gln)
|
rs1415031307
|
0.00001
|
NM_001370298.3(FGD4):c.1488T>G (p.Leu496=)
|
rs750201776
|
0.00001
|
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr)
|
rs755934741
|
0.00001
|
NM_001370298.3(FGD4):c.1543+8_1543+9insG
|
rs1555216986
|
0.00001
|
NM_001370298.3(FGD4):c.1602+7G>A
|
rs369751598
|
0.00001
|
NM_001370298.3(FGD4):c.1603-9A>G
|
rs1555217855
|
0.00001
|
NM_001370298.3(FGD4):c.1603G>A (p.Glu535Lys)
|
rs756885149
|
0.00001
|
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)
|
rs750265200
|
0.00001
|
NM_001370298.3(FGD4):c.1749+3G>A
|
rs542398408
|
0.00001
|
NM_001370298.3(FGD4):c.1846G>A (p.Val616Ile)
|
rs1949690181
|
0.00001
|
NM_001370298.3(FGD4):c.1906C>T (p.Leu636=)
|
rs182397244
|
0.00001
|
NM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu)
|
rs1217036684
|
0.00001
|
NM_001370298.3(FGD4):c.1963G>A (p.Glu655Lys)
|
rs769604865
|
0.00001
|
NM_001370298.3(FGD4):c.1972G>A (p.Asp658Asn)
|
rs774787616
|
0.00001
|
NM_001370298.3(FGD4):c.2046+18C>A
|
rs1950066689
|
0.00001
|
NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter)
|
rs751404531
|
0.00001
|
NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter)
|
rs899737461
|
0.00001
|
NM_001370298.3(FGD4):c.2133A>G (p.Ala711=)
|
rs771910342
|
0.00001
|
NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter)
|
rs778377449
|
0.00001
|
NM_001370298.3(FGD4):c.2148G>A (p.Arg716=)
|
rs372451301
|
0.00001
|
NM_001370298.3(FGD4):c.2172+12T>G
|
rs945554080
|
0.00001
|
NM_001370298.3(FGD4):c.2173-20A>C
|
rs1248910039
|
0.00001
|
NM_001370298.3(FGD4):c.2263A>G (p.Ile755Val)
|
rs764635514
|
0.00001
|
NM_001370298.3(FGD4):c.2331A>G (p.Val777=)
|
rs909875227
|
0.00001
|
NM_001370298.3(FGD4):c.2349G>A (p.Val783=)
|
rs751146762
|
0.00001
|
NM_001370298.3(FGD4):c.2402G>C (p.Cys801Ser)
|
rs749404822
|
0.00001
|
NM_001370298.3(FGD4):c.2455-5T>G
|
rs749267223
|
0.00001
|
NM_001370298.3(FGD4):c.2481A>T (p.Pro827=)
|
rs772795536
|
0.00001
|
NM_001370298.3(FGD4):c.2499G>A (p.Val833=)
|
rs1249630170
|
0.00001
|
NM_001370298.3(FGD4):c.2523C>A (p.Asp841Glu)
|
rs751777807
|
0.00001
|
NM_001370298.3(FGD4):c.2597A>G (p.Gln866Arg)
|
rs777302433
|
0.00001
|
NM_001370298.3(FGD4):c.2608A>G (p.Lys870Glu)
|
rs746459196
|
0.00001
|
NM_001370298.3(FGD4):c.2610A>C (p.Lys870Asn)
|
rs770729087
|
0.00001
|
NM_001370298.3(FGD4):c.2616C>T (p.Ile872=)
|
rs759982135
|
0.00001
|
NM_001370298.3(FGD4):c.2645G>T (p.Gly882Val)
|
rs1951104872
|
0.00001
|
NM_001370298.3(FGD4):c.2685T>C (p.Pro895=)
|
rs1261222765
|
0.00001
|
NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr)
|
rs374980260
|
0.00001
|
NM_001370298.3(FGD4):c.441T>C (p.Ser147=)
|
rs748732880
|
0.00001
|
NM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly)
|
rs1223446306
|
0.00001
|
NM_001370298.3(FGD4):c.593C>T (p.Thr198Ile)
|
rs1390487641
|
0.00001
|
NM_001370298.3(FGD4):c.595C>T (p.Pro199Ser)
|
rs1555209302
|
0.00001
|
NM_001370298.3(FGD4):c.596C>T (p.Pro199Leu)
|
rs747690428
|
0.00001
|
NM_001370298.3(FGD4):c.612C>T (p.Leu204=)
|
rs141920723
|
0.00001
|
NM_001370298.3(FGD4):c.624G>A (p.Leu208=)
|
rs1213300520
|
0.00001
|
NM_001370298.3(FGD4):c.638G>A (p.Gly213Glu)
|
rs61754560
|
0.00001
|
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr)
|
rs201660852
|
0.00001
|
NM_001370298.3(FGD4):c.708G>T (p.Gln236His)
|
rs936490141
|
0.00001
|
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys)
|
rs752621629
|
0.00001
|
NM_001370298.3(FGD4):c.786G>A (p.Thr262=)
|
rs374075663
|
0.00001
|
NM_001370298.3(FGD4):c.789C>G (p.His263Gln)
|
rs757469397
|
0.00001
|
NM_001370298.3(FGD4):c.790A>G (p.Ile264Val)
|
rs768685900
|
0.00001
|
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly)
|
rs759415605
|
0.00001
|
NM_001370298.3(FGD4):c.848G>T (p.Ser283Ile)
|
rs1208033042
|
0.00001
|
NM_001370298.3(FGD4):c.871A>G (p.Ser291Gly)
|
rs1242400732
|
0.00001
|
NM_001370298.3(FGD4):c.945A>G (p.Val315=)
|
rs756774860
|
0.00001
|
NM_001370298.3(FGD4):c.949G>A (p.Glu317Lys)
|
rs148406003
|
0.00001
|
NM_001370298.3(FGD4):c.984G>T (p.Glu328Asp)
|
rs1487363420
|
0.00001
|
NM_001370298.3(FGD4):c.999C>T (p.His333=)
|
rs748534766
|
0.00001
|
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
|
rs1458996905
|
0.00001
|
NM_001376.5(DYNC1H1):c.10079+15G>A
|
rs766060724
|
0.00001
|
NM_001376.5(DYNC1H1):c.10080-11G>A
|
rs748557081
|
0.00001
|
NM_001376.5(DYNC1H1):c.10080-16C>T
|
rs774795089
|
0.00001
|
NM_001376.5(DYNC1H1):c.10080-17T>C
|
rs1407091074
|
0.00001
|
NM_001376.5(DYNC1H1):c.10084G>A (p.Ala3362Thr)
|
rs113879661
|
0.00001
|
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=)
|
rs1555411373
|
0.00001
|
NM_001376.5(DYNC1H1):c.1020T>A (p.Pro340=)
|
rs550269731
|
0.00001
|
NM_001376.5(DYNC1H1):c.10227G>A (p.Val3409=)
|
rs1443971249
|
0.00001
|
NM_001376.5(DYNC1H1):c.10241A>G (p.Asn3414Ser)
|
rs1555411393
|
0.00001
|
NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp)
|
rs1315999225
|
0.00001
|
NM_001376.5(DYNC1H1):c.10302G>A (p.Glu3434=)
|
rs761858922
|
0.00001
|
NM_001376.5(DYNC1H1):c.10313G>A (p.Arg3438Gln)
|
rs1375729860
|
0.00001
|
NM_001376.5(DYNC1H1):c.10333G>A (p.Ala3445Thr)
|
rs755126314
|
0.00001
|
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
|
rs1407151844
|
0.00001
|
NM_001376.5(DYNC1H1):c.10353C>T (p.Tyr3451=)
|
rs752990027
|
0.00001
|
NM_001376.5(DYNC1H1):c.10356C>T (p.Ala3452=)
|
rs758827732
|
0.00001
|
NM_001376.5(DYNC1H1):c.1035G>A (p.Leu345=)
|
rs993263559
|
0.00001
|
NM_001376.5(DYNC1H1):c.10404C>T (p.Val3468=)
|
rs1453908555
|
0.00001
|
NM_001376.5(DYNC1H1):c.10413+16T>C
|
rs769305587
|
0.00001
|
NM_001376.5(DYNC1H1):c.10431T>C (p.Ala3477=)
|
rs962758825
|
0.00001
|
NM_001376.5(DYNC1H1):c.10485T>C (p.Thr3495=)
|
rs768458167
|
0.00001
|
NM_001376.5(DYNC1H1):c.10551G>A (p.Ala3517=)
|
rs765302385
|
0.00001
|
NM_001376.5(DYNC1H1):c.1061G>A (p.Arg354Lys)
|
rs1020301877
|
0.00001
|
NM_001376.5(DYNC1H1):c.10626+15G>A
|
rs757673952
|
0.00001
|
NM_001376.5(DYNC1H1):c.10656C>T (p.Tyr3552=)
|
rs587780329
|
0.00001
|
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
|
rs1595626695
|
0.00001
|
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His)
|
rs1064796932
|
0.00001
|
NM_001376.5(DYNC1H1):c.10694G>A (p.Ser3565Asn)
|
rs547814062
|
0.00001
|
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
|
rs148203153
|
0.00001
|
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn)
|
rs768668529
|
0.00001
|
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
|
rs774439464
|
0.00001
|
NM_001376.5(DYNC1H1):c.10754+10C>T
|
rs186169554
|
0.00001
|
NM_001376.5(DYNC1H1):c.10792G>A (p.Glu3598Lys)
|
rs1446944059
|
0.00001
|
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln)
|
rs760957660
|
0.00001
|
NM_001376.5(DYNC1H1):c.10851C>T (p.Asp3617=)
|
rs939486667
|
0.00001
|
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=)
|
rs1407178236
|
0.00001
|
NM_001376.5(DYNC1H1):c.10960C>T (p.Arg3654Trp)
|
rs2048604040
|
0.00001
|
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
|
rs761427653
|
0.00001
|
NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)
|
rs200204286
|
0.00001
|
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=)
|
rs572991122
|
0.00001
|
NM_001376.5(DYNC1H1):c.11056-4G>A
|
rs1347112549
|
0.00001
|
NM_001376.5(DYNC1H1):c.11094T>C (p.Phe3698=)
|
rs750612199
|
0.00001
|
NM_001376.5(DYNC1H1):c.11106A>G (p.Thr3702=)
|
rs1595629352
|
0.00001
|
NM_001376.5(DYNC1H1):c.11130C>T (p.Ser3710=)
|
rs749713831
|
0.00001
|
NM_001376.5(DYNC1H1):c.11176G>A (p.Glu3726Lys)
|
rs2048608186
|
0.00001
|
NM_001376.5(DYNC1H1):c.11206+15T>C
|
rs1367369253
|
0.00001
|
NM_001376.5(DYNC1H1):c.11206+4G>T
|
rs1164135384
|
0.00001
|
NM_001376.5(DYNC1H1):c.11207-10T>C
|
rs750573277
|
0.00001
|
NM_001376.5(DYNC1H1):c.11319G>A (p.Leu3773=)
|
rs777231661
|
0.00001
|
NM_001376.5(DYNC1H1):c.11355G>A (p.Glu3785=)
|
rs1244409249
|
0.00001
|
NM_001376.5(DYNC1H1):c.11457G>C (p.Lys3819Asn)
|
rs756719644
|
0.00001
|
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG
|
rs762712158
|
0.00001
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835
|
0.00001
|
NM_001376.5(DYNC1H1):c.11514C>T (p.Asn3838=)
|
rs762348270
|
0.00001
|
NM_001376.5(DYNC1H1):c.11543G>T (p.Gly3848Val)
|
rs754712755
|
0.00001
|
NM_001376.5(DYNC1H1):c.11596-8T>C
|
rs763755699
|
0.00001
|
NM_001376.5(DYNC1H1):c.11634G>C (p.Gln3878His)
|
rs144177631
|
0.00001
|
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly)
|
rs1239478672
|
0.00001
|
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
|
rs771563083
|
0.00001
|
NM_001376.5(DYNC1H1):c.11690+12C>A
|
rs1405537007
|
0.00001
|
NM_001376.5(DYNC1H1):c.11691-10C>T
|
rs771362494
|
0.00001
|
NM_001376.5(DYNC1H1):c.11697C>T (p.Pro3899=)
|
rs950073137
|
0.00001
|
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln)
|
rs774840535
|
0.00001
|
NM_001376.5(DYNC1H1):c.11749A>C (p.Ser3917Arg)
|
rs201024297
|
0.00001
|
NM_001376.5(DYNC1H1):c.11764C>T (p.Pro3922Ser)
|
rs1288938461
|
0.00001
|
NM_001376.5(DYNC1H1):c.11774A>G (p.Gln3925Arg)
|
rs760510345
|
0.00001
|
NM_001376.5(DYNC1H1):c.11776G>C (p.Gly3926Arg)
|
rs879254035
|
0.00001
|
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met)
|
rs867293260
|
0.00001
|
NM_001376.5(DYNC1H1):c.11790G>A (p.Glu3930=)
|
rs2048632401
|
0.00001
|
NM_001376.5(DYNC1H1):c.11795C>T (p.Ala3932Val)
|
rs752716582
|
0.00001
|
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
|
rs770188348
|
0.00001
|
NM_001376.5(DYNC1H1):c.11808G>A (p.Val3936=)
|
rs749774459
|
0.00001
|
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys)
|
rs767837334
|
0.00001
|
NM_001376.5(DYNC1H1):c.11865+10C>T
|
rs750746553
|
0.00001
|
NM_001376.5(DYNC1H1):c.118C>T (p.Leu40=)
|
rs751157210
|
0.00001
|
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=)
|
rs750305144
|
0.00001
|
NM_001376.5(DYNC1H1):c.11965C>T (p.Arg3989Cys)
|
rs142701168
|
0.00001
|
NM_001376.5(DYNC1H1):c.11966G>A (p.Arg3989His)
|
rs377516509
|
0.00001
|
NM_001376.5(DYNC1H1):c.11994C>T (p.Pro3998=)
|
rs1171187875
|
0.00001
|
NM_001376.5(DYNC1H1):c.12004T>C (p.Leu4002=)
|
rs1467108795
|
0.00001
|
NM_001376.5(DYNC1H1):c.12005T>C (p.Leu4002Ser)
|
rs771049687
|
0.00001
|
NM_001376.5(DYNC1H1):c.12078C>T (p.Asp4026=)
|
rs2048652053
|
0.00001
|
NM_001376.5(DYNC1H1):c.12102+14A>G
|
rs759719669
|
0.00001
|
NM_001376.5(DYNC1H1):c.12102+15C>T
|
rs1223174519
|
0.00001
|
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His)
|
rs1271427633
|
0.00001
|
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
|
rs768853660
|
0.00001
|
NM_001376.5(DYNC1H1):c.12115A>G (p.Thr4039Ala)
|
rs774809334
|
0.00001
|
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=)
|
rs368830742
|
0.00001
|
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)
|
rs754694929
|
0.00001
|
NM_001376.5(DYNC1H1):c.1218T>C (p.Tyr406=)
|
rs748221878
|
0.00001
|
NM_001376.5(DYNC1H1):c.12214+16G>A
|
rs774566858
|
0.00001
|
NM_001376.5(DYNC1H1):c.12259G>A (p.Ala4087Thr)
|
rs1394701012
|
0.00001
|
NM_001376.5(DYNC1H1):c.12275+7C>G
|
rs778316869
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276-17T>C
|
rs758737122
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276-4G>A
|
rs781673531
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276-6G>A
|
rs1595631975
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276G>A (p.Arg4092=)
|
rs746372351
|
0.00001
|
NM_001376.5(DYNC1H1):c.12303G>A (p.Leu4101=)
|
rs150851798
|
0.00001
|
NM_001376.5(DYNC1H1):c.12350A>G (p.Gln4117Arg)
|
rs377620179
|
0.00001
|
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=)
|
rs1260546515
|
0.00001
|
NM_001376.5(DYNC1H1):c.12400-14G>A
|
rs2048666171
|
0.00001
|
NM_001376.5(DYNC1H1):c.12400-16C>T
|
rs541260458
|
0.00001
|
NM_001376.5(DYNC1H1):c.12418C>T (p.Arg4140Cys)
|
rs764278958
|
0.00001
|
NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val)
|
rs751754403
|
0.00001
|
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=)
|
rs757449756
|
0.00001
|
NM_001376.5(DYNC1H1):c.12495C>T (p.Pro4165=)
|
rs778319883
|
0.00001
|
NM_001376.5(DYNC1H1):c.12512A>G (p.Lys4171Arg)
|
rs771674356
|
0.00001
|
NM_001376.5(DYNC1H1):c.12513+15C>T
|
rs746850569
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-12T>C
|
rs781162443
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-16T>C
|
rs770798340
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-3C>T
|
rs761866611
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-5A>G
|
rs774476953
|
0.00001
|
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=)
|
rs1489755183
|
0.00001
|
NM_001376.5(DYNC1H1):c.12521A>G (p.Asn4174Ser)
|
rs772206416
|
0.00001
|
NM_001376.5(DYNC1H1):c.12522C>T (p.Asn4174=)
|
rs1246826432
|
0.00001
|
NM_001376.5(DYNC1H1):c.12573A>G (p.Gln4191=)
|
rs760020083
|
0.00001
|
NM_001376.5(DYNC1H1):c.12576A>G (p.Glu4192=)
|
rs765728188
|
0.00001
|
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)
|
rs879254018
|
0.00001
|
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)
|
rs1595633027
|
0.00001
|
NM_001376.5(DYNC1H1):c.12606A>G (p.Ser4202=)
|
rs745717505
|
0.00001
|
NM_001376.5(DYNC1H1):c.1260T>G (p.Phe420Leu)
|
rs1367292809
|
0.00001
|
NM_001376.5(DYNC1H1):c.12639G>A (p.Arg4213=)
|
rs1289916492
|
0.00001
|
NM_001376.5(DYNC1H1):c.1266T>C (p.Thr422=)
|
rs1288014241
|
0.00001
|
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
|
rs776972173
|
0.00001
|
NM_001376.5(DYNC1H1):c.12684+16G>C
|
rs763549678
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
NM_001376.5(DYNC1H1):c.12717G>A (p.Pro4239=)
|
rs753722628
|
0.00001
|
NM_001376.5(DYNC1H1):c.12726A>G (p.Ala4242=)
|
rs1267261242
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001376.5(DYNC1H1):c.12766G>C (p.Val4256Leu)
|
rs376420321
|
0.00001
|
NM_001376.5(DYNC1H1):c.12798C>T (p.Asn4266=)
|
rs766119476
|
0.00001
|
NM_001376.5(DYNC1H1):c.12812G>A (p.Arg4271His)
|
rs1434208432
|
0.00001
|
NM_001376.5(DYNC1H1):c.12864C>T (p.Val4288=)
|
rs1264893844
|
0.00001
|
NM_001376.5(DYNC1H1):c.12867C>T (p.Asp4289=)
|
rs571858561
|
0.00001
|
NM_001376.5(DYNC1H1):c.12879C>T (p.Asp4293=)
|
rs772763192
|
0.00001
|
NM_001376.5(DYNC1H1):c.12883C>G (p.Gln4295Glu)
|
rs772591144
|
0.00001
|
NM_001376.5(DYNC1H1):c.12905G>A (p.Arg4302Gln)
|
rs755680664
|
0.00001
|
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met)
|
rs774296708
|
0.00001
|
NM_001376.5(DYNC1H1):c.12954C>T (p.Pro4318=)
|
rs766459266
|
0.00001
|
NM_001376.5(DYNC1H1):c.13007-16T>G
|
rs755574771
|
0.00001
|
NM_001376.5(DYNC1H1):c.13007-5C>T
|
rs779572264
|
0.00001
|
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=)
|
rs773232010
|
0.00001
|
NM_001376.5(DYNC1H1):c.13105A>G (p.Thr4369Ala)
|
rs1446933049
|
0.00001
|
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=)
|
rs369577172
|
0.00001
|
NM_001376.5(DYNC1H1):c.13111G>A (p.Asp4371Asn)
|
rs778370920
|
0.00001
|
NM_001376.5(DYNC1H1):c.1312G>A (p.Val438Ile)
|
rs1034508175
|
0.00001
|
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr)
|
rs768797999
|
0.00001
|
NM_001376.5(DYNC1H1):c.13155C>T (p.Ser4385=)
|
rs1336353690
|
0.00001
|
NM_001376.5(DYNC1H1):c.13182G>A (p.Thr4394=)
|
rs754395575
|
0.00001
|
NM_001376.5(DYNC1H1):c.1318A>C (p.Arg440=)
|
rs1566997890
|
0.00001
|
NM_001376.5(DYNC1H1):c.13204G>A (p.Val4402Met)
|
rs977186240
|
0.00001
|
NM_001376.5(DYNC1H1):c.13219-8G>A
|
rs370812794
|
0.00001
|
NM_001376.5(DYNC1H1):c.13233G>A (p.Arg4411=)
|
rs748158145
|
0.00001
|
NM_001376.5(DYNC1H1):c.13279G>A (p.Val4427Ile)
|
rs573728571
|
0.00001
|
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
|
rs770395590
|
0.00001
|
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg)
|
rs763724110
|
0.00001
|
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
|
rs749297332
|
0.00001
|
NM_001376.5(DYNC1H1):c.13327A>C (p.Lys4443Gln)
|
rs753794752
|
0.00001
|
NM_001376.5(DYNC1H1):c.13372+14C>T
|
rs537023632
|
0.00001
|
NM_001376.5(DYNC1H1):c.13372+15G>A
|
rs200190286
|
0.00001
|
NM_001376.5(DYNC1H1):c.13396C>T (p.His4466Tyr)
|
rs1431567490
|
0.00001
|
NM_001376.5(DYNC1H1):c.13397A>T (p.His4466Leu)
|
rs747634585
|
0.00001
|
NM_001376.5(DYNC1H1):c.13403C>T (p.Thr4468Met)
|
rs899591600
|
0.00001
|
NM_001376.5(DYNC1H1):c.13408C>T (p.Pro4470Ser)
|
rs150906249
|
0.00001
|
NM_001376.5(DYNC1H1):c.13413C>T (p.Ala4471=)
|
rs776463183
|
0.00001
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678
|
0.00001
|
NM_001376.5(DYNC1H1):c.13422C>T (p.Thr4474=)
|
rs765088845
|
0.00001
|
NM_001376.5(DYNC1H1):c.13446C>T (p.Phe4482=)
|
rs1197568157
|
0.00001
|
NM_001376.5(DYNC1H1):c.13449C>T (p.Ser4483=)
|
rs112444677
|
0.00001
|
NM_001376.5(DYNC1H1):c.13467G>A (p.Leu4489=)
|
rs1410594862
|
0.00001
|
NM_001376.5(DYNC1H1):c.13501G>A (p.Ala4501Thr)
|
rs1341526440
|
0.00001
|
NM_001376.5(DYNC1H1):c.13509G>T (p.Glu4503Asp)
|
rs1304570979
|
0.00001
|
NM_001376.5(DYNC1H1):c.13529G>T (p.Cys4510Phe)
|
rs888890361
|
0.00001
|
NM_001376.5(DYNC1H1):c.13539C>G (p.Gly4513=)
|
rs1165803933
|
0.00001
|
NM_001376.5(DYNC1H1):c.13606C>T (p.Leu4536=)
|
rs753065831
|
0.00001
|
NM_001376.5(DYNC1H1):c.1360C>T (p.Pro454Ser)
|
rs1362114769
|
0.00001
|
NM_001376.5(DYNC1H1):c.13632C>T (p.Asn4544=)
|
rs1278422408
|
0.00001
|
NM_001376.5(DYNC1H1):c.13650C>T (p.Gly4550=)
|
rs745501457
|
0.00001
|
NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)
|
rs1181756021
|
0.00001
|
NM_001376.5(DYNC1H1):c.13663G>A (p.Ala4555Thr)
|
rs375286762
|
0.00001
|
NM_001376.5(DYNC1H1):c.13674C>T (p.Phe4558=)
|
rs774109669
|
0.00001
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
rs1376784009
|
0.00001
|
NM_001376.5(DYNC1H1):c.13706C>T (p.Thr4569Met)
|
rs1007361669
|
0.00001
|
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser)
|
rs571005578
|
0.00001
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
NM_001376.5(DYNC1H1):c.13731G>T (p.Leu4577=)
|
rs758277590
|
0.00001
|
NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=)
|
rs746971715
|
0.00001
|
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr)
|
rs544608488
|
0.00001
|
NM_001376.5(DYNC1H1):c.13757C>T (p.Pro4586Leu)
|
rs1273077328
|
0.00001
|
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
|
rs765362140
|
0.00001
|
NM_001376.5(DYNC1H1):c.13794C>T (p.Thr4598=)
|
rs765791872
|
0.00001
|
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
|
rs753454594
|
0.00001
|
NM_001376.5(DYNC1H1):c.1380G>A (p.Gln460=)
|
rs1432813058
|
0.00001
|
NM_001376.5(DYNC1H1):c.13812+6G>A
|
rs1258593391
|
0.00001
|
NM_001376.5(DYNC1H1):c.13813-17C>T
|
rs1340857815
|
0.00001
|
NM_001376.5(DYNC1H1):c.13827C>G (p.Val4609=)
|
rs752364441
|
0.00001
|
NM_001376.5(DYNC1H1):c.13831C>T (p.Leu4611=)
|
rs567441940
|
0.00001
|
NM_001376.5(DYNC1H1):c.13854C>T (p.Leu4618=)
|
rs112650569
|
0.00001
|
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=)
|
rs781130520
|
0.00001
|
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)
|
rs200149883
|
0.00001
|
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=)
|
rs141961494
|
0.00001
|
NM_001376.5(DYNC1H1):c.13890G>A (p.Glu4630=)
|
rs1369279982
|
0.00001
|
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp)
|
rs200224597
|
0.00001
|
NM_001376.5(DYNC1H1):c.13920C>T (p.Val4640=)
|
rs573332348
|
0.00001
|
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=)
|
rs1060504508
|
0.00001
|
NM_001376.5(DYNC1H1):c.1461+4A>G
|
rs767995276
|
0.00001
|
NM_001376.5(DYNC1H1):c.1462-6C>T
|
rs776545422
|
0.00001
|
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=)
|
rs761306770
|
0.00001
|
NM_001376.5(DYNC1H1):c.1505C>T (p.Pro502Leu)
|
rs1435555404
|
0.00001
|
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)
|
rs1057522046
|
0.00001
|
NM_001376.5(DYNC1H1):c.1542T>C (p.Ala514=)
|
rs1178479635
|
0.00001
|
NM_001376.5(DYNC1H1):c.1608G>A (p.Leu536=)
|
rs1276854267
|
0.00001
|
NM_001376.5(DYNC1H1):c.1620A>G (p.Lys540=)
|
rs1213499788
|
0.00001
|
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
rs780247153
|
0.00001
|
NM_001376.5(DYNC1H1):c.1629G>A (p.Thr543=)
|
rs754292695
|
0.00001
|
NM_001376.5(DYNC1H1):c.1650G>A (p.Met550Ile)
|
rs1469299067
|
0.00001
|
NM_001376.5(DYNC1H1):c.1683G>A (p.Glu561=)
|
rs1194411306
|
0.00001
|
NM_001376.5(DYNC1H1):c.1713G>T (p.Gln571His)
|
rs746635345
|
0.00001
|
NM_001376.5(DYNC1H1):c.1767T>C (p.Asn589=)
|
rs769481018
|
0.00001
|
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
|
rs1371614408
|
0.00001
|
NM_001376.5(DYNC1H1):c.1806C>T (p.Arg602=)
|
rs145526188
|
0.00001
|
NM_001376.5(DYNC1H1):c.184C>A (p.Leu62Met)
|
rs777022618
|
0.00001
|
NM_001376.5(DYNC1H1):c.1875C>T (p.Val625=)
|
rs753183437
|
0.00001
|
NM_001376.5(DYNC1H1):c.1878G>A (p.Gln626=)
|
rs758946754
|
0.00001
|
NM_001376.5(DYNC1H1):c.1887G>T (p.Gln629His)
|
rs777262223
|
0.00001
|
NM_001376.5(DYNC1H1):c.1899T>C (p.Cys633=)
|
rs770360380
|
0.00001
|
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
|
rs1383117534
|
0.00001
|
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His)
|
rs1244748017
|
0.00001
|
NM_001376.5(DYNC1H1):c.1962C>T (p.Ile654=)
|
rs768776793
|
0.00001
|
NM_001376.5(DYNC1H1):c.1968G>A (p.Arg656=)
|
rs760745383
|
0.00001
|
NM_001376.5(DYNC1H1):c.1977G>A (p.Thr659=)
|
rs151170554
|
0.00001
|
NM_001376.5(DYNC1H1):c.2052G>C (p.Gln684His)
|
rs1462327866
|
0.00001
|
NM_001376.5(DYNC1H1):c.2124G>A (p.Gln708=)
|
rs1157353313
|
0.00001
|
NM_001376.5(DYNC1H1):c.2142G>A (p.Ser714=)
|
rs532074498
|
0.00001
|
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His)
|
rs759802064
|
0.00001
|
NM_001376.5(DYNC1H1):c.2181C>T (p.Gly727=)
|
rs1203393217
|
0.00001
|
NM_001376.5(DYNC1H1):c.219G>A (p.Gln73=)
|
rs1298244911
|
0.00001
|
NM_001376.5(DYNC1H1):c.2262A>G (p.Lys754=)
|
rs528972169
|
0.00001
|
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile)
|
rs781320162
|
0.00001
|
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala)
|
rs1001125376
|
0.00001
|
NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)
|
rs774412818
|
0.00001
|
NM_001376.5(DYNC1H1):c.2331T>C (p.Phe777=)
|
rs1186857563
|
0.00001
|
NM_001376.5(DYNC1H1):c.2334C>A (p.Ala778=)
|
rs957105344
|
0.00001
|
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
|
rs371431746
|
0.00001
|
NM_001376.5(DYNC1H1):c.2391G>A (p.Glu797=)
|
rs780156927
|
0.00001
|
NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln)
|
rs768932305
|
0.00001
|
NM_001376.5(DYNC1H1):c.2400C>G (p.Thr800=)
|
rs146746729
|
0.00001
|
NM_001376.5(DYNC1H1):c.2441C>G (p.Ala814Gly)
|
rs140342004
|
0.00001
|
NM_001376.5(DYNC1H1):c.2449G>A (p.Ala817Thr)
|
rs753467717
|
0.00001
|
NM_001376.5(DYNC1H1):c.2463G>A (p.Ala821=)
|
rs764740993
|
0.00001
|
NM_001376.5(DYNC1H1):c.2487T>C (p.Leu829=)
|
rs1222196177
|
0.00001
|
NM_001376.5(DYNC1H1):c.2493A>G (p.Pro831=)
|
rs777646914
|
0.00001
|
NM_001376.5(DYNC1H1):c.2496T>C (p.Tyr832=)
|
rs751475618
|
0.00001
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
NM_001376.5(DYNC1H1):c.2504G>A (p.Arg835His)
|
rs1463717963
|
0.00001
|
NM_001376.5(DYNC1H1):c.2538+19C>T
|
rs1299143976
|
0.00001
|
NM_001376.5(DYNC1H1):c.2539-10C>A
|
rs1372571783
|
0.00001
|
NM_001376.5(DYNC1H1):c.2539-16A>G
|
rs767381993
|
0.00001
|
NM_001376.5(DYNC1H1):c.2539-7C>T
|
rs960086644
|
0.00001
|
NM_001376.5(DYNC1H1):c.257-9G>A
|
rs200907076
|
0.00001
|
NM_001376.5(DYNC1H1):c.2580A>G (p.Glu860=)
|
rs1343789593
|
0.00001
|
NM_001376.5(DYNC1H1):c.2584C>T (p.Arg862Cys)
|
rs865971340
|
0.00001
|
NM_001376.5(DYNC1H1):c.2589C>G (p.Ser863=)
|
rs999288773
|
0.00001
|
NM_001376.5(DYNC1H1):c.264C>T (p.Val88=)
|
rs747503901
|
0.00001
|
NM_001376.5(DYNC1H1):c.2650G>T (p.Ala884Ser)
|
rs775105649
|
0.00001
|
NM_001376.5(DYNC1H1):c.2652A>G (p.Ala884=)
|
rs762508534
|
0.00001
|
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
|
rs749973847
|
0.00001
|
NM_001376.5(DYNC1H1):c.270T>C (p.Asp90=)
|
rs760330950
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-11G>A
|
rs1166917410
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>G
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.2736C>T (p.Gly912=)
|
rs201391933
|
0.00001
|
NM_001376.5(DYNC1H1):c.2754C>T (p.Gly918=)
|
rs543139363
|
0.00001
|
NM_001376.5(DYNC1H1):c.2922A>G (p.Pro974=)
|
rs963837216
|
0.00001
|
NM_001376.5(DYNC1H1):c.3012C>T (p.Tyr1004=)
|
rs139087346
|
0.00001
|
NM_001376.5(DYNC1H1):c.3015+3A>G
|
rs1057522534
|
0.00001
|
NM_001376.5(DYNC1H1):c.3051A>G (p.Lys1017=)
|
rs781028481
|
0.00001
|
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu)
|
rs775528195
|
0.00001
|
NM_001376.5(DYNC1H1):c.3107C>T (p.Ser1036Leu)
|
rs369033191
|
0.00001
|
NM_001376.5(DYNC1H1):c.3130G>T (p.Val1044Leu)
|
rs1035544174
|
0.00001
|
NM_001376.5(DYNC1H1):c.3132A>G (p.Val1044=)
|
rs771003972
|
0.00001
|
NM_001376.5(DYNC1H1):c.3157-15G>A
|
rs776789534
|
0.00001
|
NM_001376.5(DYNC1H1):c.3201C>T (p.Asn1067=)
|
rs770114315
|
0.00001
|
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
|
rs775900761
|
0.00001
|
NM_001376.5(DYNC1H1):c.3276C>T (p.Thr1092=)
|
rs1192941627
|
0.00001
|
NM_001376.5(DYNC1H1):c.3288A>G (p.Ala1096=)
|
rs1449056694
|
0.00001
|
NM_001376.5(DYNC1H1):c.3334-5C>T
|
rs781237553
|
0.00001
|
NM_001376.5(DYNC1H1):c.3396G>A (p.Gly1132=)
|
rs202121407
|
0.00001
|
NM_001376.5(DYNC1H1):c.341A>G (p.Asn114Ser)
|
rs781336672
|
0.00001
|
NM_001376.5(DYNC1H1):c.3420G>A (p.Thr1140=)
|
rs144002471
|
0.00001
|
NM_001376.5(DYNC1H1):c.344+8G>A
|
rs1394913488
|
0.00001
|
NM_001376.5(DYNC1H1):c.3444+3G>A
|
rs1475876803
|
0.00001
|
NM_001376.5(DYNC1H1):c.345-3T>G
|
rs1060502203
|
0.00001
|
NM_001376.5(DYNC1H1):c.345-4T>G
|
rs1060504510
|
0.00001
|
NM_001376.5(DYNC1H1):c.345-7T>C
|
rs752511770
|
0.00001
|
NM_001376.5(DYNC1H1):c.351A>G (p.Ala117=)
|
rs2047836821
|
0.00001
|
NM_001376.5(DYNC1H1):c.3572G>A (p.Arg1191His)
|
rs1003718521
|
0.00001
|
NM_001376.5(DYNC1H1):c.3583C>T (p.Arg1195Cys)
|
rs767427937
|
0.00001
|
NM_001376.5(DYNC1H1):c.3591G>A (p.Leu1197=)
|
rs750329037
|
0.00001
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met)
|
rs749548033
|
0.00001
|
NM_001376.5(DYNC1H1):c.3720A>G (p.Gln1240=)
|
rs2048072242
|
0.00001
|
NM_001376.5(DYNC1H1):c.3743G>A (p.Arg1248Gln)
|
rs779578539
|
0.00001
|
NM_001376.5(DYNC1H1):c.3747C>T (p.Ala1249=)
|
rs748930886
|
0.00001
|
NM_001376.5(DYNC1H1):c.3845T>C (p.Ile1282Thr)
|
rs1479995920
|
0.00001
|
NM_001376.5(DYNC1H1):c.3873G>A (p.Lys1291=)
|
rs138014752
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
NM_001376.5(DYNC1H1):c.393G>A (p.Val131=)
|
rs748585839
|
0.00001
|
NM_001376.5(DYNC1H1):c.3955G>A (p.Val1319Met)
|
rs370976687
|
0.00001
|
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
|
rs763711252
|
0.00001
|
NM_001376.5(DYNC1H1):c.4074+11A>T
|
rs368040742
|
0.00001
|
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=)
|
rs753684857
|
0.00001
|
NM_001376.5(DYNC1H1):c.4125C>T (p.Ala1375=)
|
rs755008615
|
0.00001
|
NM_001376.5(DYNC1H1):c.4179C>T (p.Tyr1393=)
|
rs1331078199
|
0.00001
|
NM_001376.5(DYNC1H1):c.4185+14_4185+16dup
|
rs770371938
|
0.00001
|
NM_001376.5(DYNC1H1):c.4185+17G>A
|
rs570358936
|
0.00001
|
NM_001376.5(DYNC1H1):c.4215C>T (p.Ser1405=)
|
rs748713162
|
0.00001
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200
|
0.00001
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289
|
0.00001
|
NM_001376.5(DYNC1H1):c.4362A>G (p.Gln1454=)
|
rs755371820
|
0.00001
|
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=)
|
rs764884119
|
0.00001
|
NM_001376.5(DYNC1H1):c.4395+10A>G
|
rs1226325395
|
0.00001
|
NM_001376.5(DYNC1H1):c.4395+20G>A
|
rs377176132
|
0.00001
|
NM_001376.5(DYNC1H1):c.4419T>C (p.Tyr1473=)
|
rs747519168
|
0.00001
|
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=)
|
rs756763142
|
0.00001
|
NM_001376.5(DYNC1H1):c.4429T>C (p.Leu1477=)
|
rs555992808
|
0.00001
|
NM_001376.5(DYNC1H1):c.4454G>A (p.Arg1485His)
|
rs1305558731
|
0.00001
|
NM_001376.5(DYNC1H1):c.4461C>A (p.Ile1487=)
|
rs745509545
|
0.00001
|
NM_001376.5(DYNC1H1):c.4491C>G (p.Val1497=)
|
rs1703505053
|
0.00001
|
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile)
|
rs761695197
|
0.00001
|
NM_001376.5(DYNC1H1):c.4542+6G>A
|
rs375822798
|
0.00001
|
NM_001376.5(DYNC1H1):c.4543-5A>C
|
rs903101532
|
0.00001
|
NM_001376.5(DYNC1H1):c.456C>T (p.Phe152=)
|
rs148062994
|
0.00001
|
NM_001376.5(DYNC1H1):c.4605T>C (p.Asp1535=)
|
rs763337812
|
0.00001
|
NM_001376.5(DYNC1H1):c.4627C>T (p.Arg1543Trp)
|
rs1312121057
|
0.00001
|
NM_001376.5(DYNC1H1):c.4635C>T (p.Val1545=)
|
rs1416911485
|
0.00001
|
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu)
|
rs762246186
|
0.00001
|
NM_001376.5(DYNC1H1):c.4659C>T (p.Gly1553=)
|
rs750945941
|
0.00001
|
NM_001376.5(DYNC1H1):c.4699C>A (p.Arg1567=)
|
rs377013246
|
0.00001
|
NM_001376.5(DYNC1H1):c.4701G>T (p.Arg1567=)
|
rs747831042
|
0.00001
|
NM_001376.5(DYNC1H1):c.4765A>G (p.Met1589Val)
|
rs376671826
|
0.00001
|
NM_001376.5(DYNC1H1):c.4773T>C (p.Val1591=)
|
rs2048147772
|
0.00001
|
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp)
|
rs1060502204
|
0.00001
|
NM_001376.5(DYNC1H1):c.4902T>C (p.Asp1634=)
|
rs370806297
|
0.00001
|
NM_001376.5(DYNC1H1):c.4942G>A (p.Ala1648Thr)
|
rs772223606
|
0.00001
|
NM_001376.5(DYNC1H1):c.4943C>G (p.Ala1648Gly)
|
rs2048175185
|
0.00001
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
NM_001376.5(DYNC1H1):c.4976C>T (p.Ala1659Val)
|
rs1452214964
|
0.00001
|
NM_001376.5(DYNC1H1):c.4986G>A (p.Ser1662=)
|
rs113210905
|
0.00001
|
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
|
rs925942859
|
0.00001
|
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
|
rs758191823
|
0.00001
|
NM_001376.5(DYNC1H1):c.5011T>G (p.Ser1671Ala)
|
rs775007872
|
0.00001
|
NM_001376.5(DYNC1H1):c.5017G>A (p.Val1673Ile)
|
rs2048176208
|
0.00001
|
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys)
|
rs1321265961
|
0.00001
|
NM_001376.5(DYNC1H1):c.5049+7T>C
|
rs374768466
|
0.00001
|
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182
|
0.00001
|
NM_001376.5(DYNC1H1):c.5118A>G (p.Glu1706=)
|
rs1567007961
|
0.00001
|
NM_001376.5(DYNC1H1):c.5136C>T (p.Thr1712=)
|
rs1460196440
|
0.00001
|
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys)
|
rs1555409562
|
0.00001
|
NM_001376.5(DYNC1H1):c.519-14A>G
|
rs775118340
|
0.00001
|
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr)
|
rs1555409568
|
0.00001
|
NM_001376.5(DYNC1H1):c.5238+7T>C
|
rs746205822
|
0.00001
|
NM_001376.5(DYNC1H1):c.5250G>A (p.Val1750=)
|
rs756473839
|
0.00001
|
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
|
rs1441272851
|
0.00001
|
NM_001376.5(DYNC1H1):c.5316T>C (p.Gly1772=)
|
rs761933814
|
0.00001
|
NM_001376.5(DYNC1H1):c.5325C>T (p.Ala1775=)
|
rs767537085
|
0.00001
|
NM_001376.5(DYNC1H1):c.5327C>T (p.Ala1776Val)
|
rs201902137
|
0.00001
|
NM_001376.5(DYNC1H1):c.5337C>T (p.His1779=)
|
rs1158994673
|
0.00001
|
NM_001376.5(DYNC1H1):c.5367C>T (p.Leu1789=)
|
rs757894227
|
0.00001
|
NM_001376.5(DYNC1H1):c.5392A>G (p.Met1798Val)
|
rs2048183332
|
0.00001
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
NM_001376.5(DYNC1H1):c.5433+4A>G
|
rs558658822
|
0.00001
|
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=)
|
rs762857766
|
0.00001
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090
|
0.00001
|
NM_001376.5(DYNC1H1):c.5495A>G (p.Asn1832Ser)
|
rs1446476604
|
0.00001
|
NM_001376.5(DYNC1H1):c.5496C>T (p.Asn1832=)
|
rs774374501
|
0.00001
|
NM_001376.5(DYNC1H1):c.5535C>T (p.Tyr1845=)
|
rs375310234
|
0.00001
|
NM_001376.5(DYNC1H1):c.5559G>A (p.Val1853=)
|
rs1399921525
|
0.00001
|
NM_001376.5(DYNC1H1):c.5578C>A (p.Gln1860Lys)
|
rs893299206
|
0.00001
|
NM_001376.5(DYNC1H1):c.5616C>T (p.Tyr1872=)
|
rs2048193275
|
0.00001
|
NM_001376.5(DYNC1H1):c.561A>G (p.Ala187=)
|
rs774395446
|
0.00001
|
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
|
rs768520247
|
0.00001
|
NM_001376.5(DYNC1H1):c.5685C>G (p.Ala1895=)
|
rs1475165809
|
0.00001
|
NM_001376.5(DYNC1H1):c.5694C>T (p.Ala1898=)
|
rs1219103213
|
0.00001
|
NM_001376.5(DYNC1H1):c.5700G>T (p.Leu1900=)
|
rs552313071
|
0.00001
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
NM_001376.5(DYNC1H1):c.5800G>A (p.Glu1934Lys)
|
rs1424457974
|
0.00001
|
NM_001376.5(DYNC1H1):c.5818-17C>A
|
rs563758908
|
0.00001
|
NM_001376.5(DYNC1H1):c.5818-7T>C
|
rs768853025
|
0.00001
|
NM_001376.5(DYNC1H1):c.5818-9C>T
|
rs1366670786
|
0.00001
|
NM_001376.5(DYNC1H1):c.5907G>A (p.Ser1969=)
|
rs758999145
|
0.00001
|
NM_001376.5(DYNC1H1):c.5963C>T (p.Pro1988Leu)
|
rs1399670309
|
0.00001
|
NM_001376.5(DYNC1H1):c.5976G>A (p.Lys1992=)
|
rs895478584
|
0.00001
|
NM_001376.5(DYNC1H1):c.5977+12C>T
|
rs967068629
|
0.00001
|
NM_001376.5(DYNC1H1):c.5987C>G (p.Pro1996Arg)
|
rs752903521
|
0.00001
|
NM_001376.5(DYNC1H1):c.6066C>T (p.Tyr2022=)
|
rs769412278
|
0.00001
|
NM_001376.5(DYNC1H1):c.6157A>T (p.Met2053Leu)
|
rs1395925460
|
0.00001
|
NM_001376.5(DYNC1H1):c.6168A>T (p.Ser2056=)
|
rs1367937657
|
0.00001
|
NM_001376.5(DYNC1H1):c.6210C>T (p.Val2070=)
|
rs898083162
|
0.00001
|
NM_001376.5(DYNC1H1):c.6231T>C (p.Asp2077=)
|
rs528826538
|
0.00001
|
NM_001376.5(DYNC1H1):c.6264C>T (p.Phe2088=)
|
rs778348555
|
0.00001
|
NM_001376.5(DYNC1H1):c.633A>G (p.Pro211=)
|
rs1479689081
|
0.00001
|
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=)
|
rs769782375
|
0.00001
|
NM_001376.5(DYNC1H1):c.6405+4C>T
|
rs868691855
|
0.00001
|
NM_001376.5(DYNC1H1):c.6405+5G>A
|
rs774226163
|
0.00001
|
NM_001376.5(DYNC1H1):c.6502G>A (p.Val2168Ile)
|
rs1567010429
|
0.00001
|
NM_001376.5(DYNC1H1):c.6539A>C (p.Glu2180Ala)
|
rs377618857
|
0.00001
|
NM_001376.5(DYNC1H1):c.6597T>C (p.Val2199=)
|
rs1305195955
|
0.00001
|
NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
|
rs757819428
|
0.00001
|
NM_001376.5(DYNC1H1):c.6687G>C (p.Gly2229=)
|
rs553054991
|
0.00001
|
NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)
|
rs1377924324
|
0.00001
|
NM_001376.5(DYNC1H1):c.6739G>A (p.Val2247Met)
|
rs1064796963
|
0.00001
|
NM_001376.5(DYNC1H1):c.679C>A (p.Pro227Thr)
|
rs745425454
|
0.00001
|
NM_001376.5(DYNC1H1):c.6857+4C>T
|
rs374773368
|
0.00001
|
NM_001376.5(DYNC1H1):c.6857+8T>G
|
rs774831565
|
0.00001
|
NM_001376.5(DYNC1H1):c.6864C>T (p.Ile2288=)
|
rs780288243
|
0.00001
|
NM_001376.5(DYNC1H1):c.6882G>A (p.Glu2294=)
|
rs772596156
|
0.00001
|
NM_001376.5(DYNC1H1):c.6903C>T (p.Ile2301=)
|
rs770388642
|
0.00001
|
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser)
|
rs142335110
|
0.00001
|
NM_001376.5(DYNC1H1):c.7008A>G (p.Pro2336=)
|
rs766423624
|
0.00001
|
NM_001376.5(DYNC1H1):c.7014+15G>C
|
rs778312298
|
0.00001
|
NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser)
|
rs1473788247
|
0.00001
|
NM_001376.5(DYNC1H1):c.7144C>T (p.Leu2382=)
|
rs1408282695
|
0.00001
|
NM_001376.5(DYNC1H1):c.7161G>A (p.Leu2387=)
|
rs2048306603
|
0.00001
|
NM_001376.5(DYNC1H1):c.7186C>T (p.Arg2396Trp)
|
rs763030235
|
0.00001
|
NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln)
|
rs751820545
|
0.00001
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
rs549582489
|
0.00001
|
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)
|
rs587780330
|
0.00001
|
NM_001376.5(DYNC1H1):c.7242+4C>T
|
rs760664042
|
0.00001
|
NM_001376.5(DYNC1H1):c.7242+5G>A
|
rs770870431
|
0.00001
|
NM_001376.5(DYNC1H1):c.7262C>T (p.Thr2421Met)
|
rs770803375
|
0.00001
|
NM_001376.5(DYNC1H1):c.7274C>A (p.Pro2425Gln)
|
rs1406145337
|
0.00001
|
NM_001376.5(DYNC1H1):c.7283C>T (p.Thr2428Met)
|
rs774418749
|
0.00001
|
NM_001376.5(DYNC1H1):c.7291G>A (p.Gly2431Ser)
|
rs773669775
|
0.00001
|
NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)
|
rs1011204533
|
0.00001
|
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
|
rs1595617173
|
0.00001
|
NM_001376.5(DYNC1H1):c.7351C>T (p.Arg2451Cys)
|
rs1415287907
|
0.00001
|
NM_001376.5(DYNC1H1):c.7371G>A (p.Ser2457=)
|
rs186858721
|
0.00001
|
NM_001376.5(DYNC1H1):c.7377C>T (p.Phe2459=)
|
rs1430680686
|
0.00001
|
NM_001376.5(DYNC1H1):c.7399C>T (p.Arg2467Cys)
|
rs2048316541
|
0.00001
|
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile)
|
rs797045532
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001376.5(DYNC1H1):c.7441A>G (p.Met2481Val)
|
rs763703432
|
0.00001
|
NM_001376.5(DYNC1H1):c.7467C>T (p.Tyr2489=)
|
rs772321409
|
0.00001
|
NM_001376.5(DYNC1H1):c.7473+9G>A
|
rs1209412220
|
0.00001
|
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
|
rs1292509595
|
0.00001
|
NM_001376.5(DYNC1H1):c.7476A>G (p.Arg2492=)
|
rs1050550035
|
0.00001
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405
|
0.00001
|
NM_001376.5(DYNC1H1):c.7565C>T (p.Thr2522Met)
|
rs528647293
|
0.00001
|
NM_001376.5(DYNC1H1):c.7570G>A (p.Val2524Met)
|
rs147836678
|
0.00001
|
NM_001376.5(DYNC1H1):c.7586C>T (p.Ala2529Val)
|
rs746209887
|
0.00001
|
NM_001376.5(DYNC1H1):c.7615-9C>T
|
rs371138028
|
0.00001
|
NM_001376.5(DYNC1H1):c.7627G>A (p.Gly2543Arg)
|
rs892693926
|
0.00001
|
NM_001376.5(DYNC1H1):c.7701C>T (p.Val2567=)
|
rs759429795
|
0.00001
|
NM_001376.5(DYNC1H1):c.7719C>T (p.Asp2573=)
|
rs1390975626
|
0.00001
|
NM_001376.5(DYNC1H1):c.7728C>T (p.Arg2576=)
|
rs958589871
|
0.00001
|
NM_001376.5(DYNC1H1):c.775-14T>C
|
rs1219013973
|
0.00001
|
NM_001376.5(DYNC1H1):c.775-19T>C
|
rs896795652
|
0.00001
|
NM_001376.5(DYNC1H1):c.7767G>A (p.Lys2589=)
|
rs2048330221
|
0.00001
|
NM_001376.5(DYNC1H1):c.7794G>A (p.Gly2598=)
|
rs770661847
|
0.00001
|
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
|
rs1595617746
|
0.00001
|
NM_001376.5(DYNC1H1):c.7848+8G>A
|
rs1344384229
|
0.00001
|
NM_001376.5(DYNC1H1):c.7864T>C (p.Phe2622Leu)
|
rs1237088147
|
0.00001
|
NM_001376.5(DYNC1H1):c.7917C>T (p.Cys2639=)
|
rs778369655
|
0.00001
|
NM_001376.5(DYNC1H1):c.7942G>A (p.Val2648Met)
|
rs1288886820
|
0.00001
|
NM_001376.5(DYNC1H1):c.7986C>T (p.Phe2662=)
|
rs768455078
|
0.00001
|
NM_001376.5(DYNC1H1):c.8038A>G (p.Ile2680Val)
|
rs1308813075
|
0.00001
|
NM_001376.5(DYNC1H1):c.8055+9C>G
|
rs753929462
|
0.00001
|
NM_001376.5(DYNC1H1):c.8148A>G (p.Thr2716=)
|
rs763226110
|
0.00001
|
NM_001376.5(DYNC1H1):c.8177+6A>G
|
rs190495300
|
0.00001
|
NM_001376.5(DYNC1H1):c.8178G>A (p.Arg2726=)
|
rs777685040
|
0.00001
|
NM_001376.5(DYNC1H1):c.8186G>A (p.Arg2729His)
|
rs1000550855
|
0.00001
|
NM_001376.5(DYNC1H1):c.8190C>T (p.His2730=)
|
rs747028073
|
0.00001
|
NM_001376.5(DYNC1H1):c.8244C>T (p.Tyr2748=)
|
rs766829421
|
0.00001
|
NM_001376.5(DYNC1H1):c.8259C>T (p.Arg2753=)
|
rs752418713
|
0.00001
|
NM_001376.5(DYNC1H1):c.825T>C (p.Ile275=)
|
rs773159389
|
0.00001
|
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)
|
rs758178917
|
0.00001
|
NM_001376.5(DYNC1H1):c.8275A>G (p.Ile2759Val)
|
rs1131691452
|
0.00001
|
NM_001376.5(DYNC1H1):c.8288G>A (p.Arg2763Gln)
|
rs757167931
|
0.00001
|
NM_001376.5(DYNC1H1):c.8307C>T (p.Leu2769=)
|
rs1256192772
|
0.00001
|
NM_001376.5(DYNC1H1):c.8326T>A (p.Phe2776Ile)
|
rs748320904
|
0.00001
|
NM_001376.5(DYNC1H1):c.8343+4C>T
|
rs771447934
|
0.00001
|
NM_001376.5(DYNC1H1):c.8343+5G>A
|
rs369653555
|
0.00001
|
NM_001376.5(DYNC1H1):c.8344-4A>G
|
rs200913985
|
0.00001
|
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=)
|
rs771269792
|
0.00001
|
NM_001376.5(DYNC1H1):c.8426C>T (p.Ala2809Val)
|
rs759983101
|
0.00001
|
NM_001376.5(DYNC1H1):c.8468G>A (p.Arg2823Gln)
|
rs1034689180
|
0.00001
|
NM_001376.5(DYNC1H1):c.8507+13G>A
|
rs766442338
|
0.00001
|
NM_001376.5(DYNC1H1):c.8507+3A>G
|
rs1167512575
|
0.00001
|
NM_001376.5(DYNC1H1):c.8508-18A>G
|
rs767229783
|
0.00001
|
NM_001376.5(DYNC1H1):c.8508-20A>T
|
rs1364758830
|
0.00001
|
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
|
rs1475477801
|
0.00001
|
NM_001376.5(DYNC1H1):c.852G>A (p.Ala284=)
|
rs199534174
|
0.00001
|
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=)
|
rs149526821
|
0.00001
|
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met)
|
rs575806819
|
0.00001
|
NM_001376.5(DYNC1H1):c.8583C>T (p.Ile2861=)
|
rs747715540
|
0.00001
|
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)
|
rs1169712846
|
0.00001
|
NM_001376.5(DYNC1H1):c.8637+11C>T
|
rs367952855
|
0.00001
|
NM_001376.5(DYNC1H1):c.8658A>G (p.Gln2886=)
|
rs766611207
|
0.00001
|
NM_001376.5(DYNC1H1):c.8677G>A (p.Val2893Ile)
|
rs1285270824
|
0.00001
|
NM_001376.5(DYNC1H1):c.8712A>G (p.Glu2904=)
|
rs141827899
|
0.00001
|
NM_001376.5(DYNC1H1):c.8733G>A (p.Leu2911=)
|
rs1327964569
|
0.00001
|
NM_001376.5(DYNC1H1):c.8749G>A (p.Asp2917Asn)
|
rs1595622920
|
0.00001
|
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=)
|
rs758989267
|
0.00001
|
NM_001376.5(DYNC1H1):c.8772-20del
|
rs1315440536
|
0.00001
|
NM_001376.5(DYNC1H1):c.8772-7G>A
|
rs758936427
|
0.00001
|
NM_001376.5(DYNC1H1):c.8843G>A (p.Arg2948His)
|
rs780690762
|
0.00001
|
NM_001376.5(DYNC1H1):c.8847C>T (p.Phe2949=)
|
rs200720335
|
0.00001
|
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=)
|
rs755723273
|
0.00001
|
NM_001376.5(DYNC1H1):c.8876A>G (p.Tyr2959Cys)
|
rs797045536
|
0.00001
|
NM_001376.5(DYNC1H1):c.8886+12C>T
|
rs779856253
|
0.00001
|
NM_001376.5(DYNC1H1):c.8886+4C>T
|
rs1349379812
|
0.00001
|
NM_001376.5(DYNC1H1):c.8930G>A (p.Arg2977Gln)
|
rs779621100
|
0.00001
|
NM_001376.5(DYNC1H1):c.8934A>G (p.Thr2978=)
|
rs1192641956
|
0.00001
|
NM_001376.5(DYNC1H1):c.8954G>C (p.Cys2985Ser)
|
rs1269870036
|
0.00001
|
NM_001376.5(DYNC1H1):c.9030C>T (p.Thr3010=)
|
rs750413212
|
0.00001
|
NM_001376.5(DYNC1H1):c.9048+14G>A
|
rs200027905
|
0.00001
|
NM_001376.5(DYNC1H1):c.9048+19G>A
|
rs2048464169
|
0.00001
|
NM_001376.5(DYNC1H1):c.9054T>C (p.Pro3018=)
|
rs746598763
|
0.00001
|
NM_001376.5(DYNC1H1):c.9077A>G (p.Tyr3026Cys)
|
rs1032073396
|
0.00001
|
NM_001376.5(DYNC1H1):c.9179G>A (p.Arg3060His)
|
rs1408182872
|
0.00001
|
NM_001376.5(DYNC1H1):c.9192C>T (p.Val3064=)
|
rs1434845724
|
0.00001
|
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)
|
rs377668381
|
0.00001
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=)
|
rs1555410963
|
0.00001
|
NM_001376.5(DYNC1H1):c.9263+3A>G
|
rs751390841
|
0.00001
|
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
|
rs1043956265
|
0.00001
|
NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys)
|
rs1049866462
|
0.00001
|
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
|
rs747831868
|
0.00001
|
NM_001376.5(DYNC1H1):c.9468+20C>G
|
rs760693848
|
0.00001
|
NM_001376.5(DYNC1H1):c.9469-12A>G
|
rs1210038793
|
0.00001
|
NM_001376.5(DYNC1H1):c.9479G>A (p.Arg3160Gln)
|
rs777423061
|
0.00001
|
NM_001376.5(DYNC1H1):c.9498C>T (p.Gly3166=)
|
rs1434226100
|
0.00001
|
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
|
rs756550022
|
0.00001
|
NM_001376.5(DYNC1H1):c.9603G>A (p.Leu3201=)
|
rs140436909
|
0.00001
|
NM_001376.5(DYNC1H1):c.9642+13C>T
|
rs760557941
|
0.00001
|
NM_001376.5(DYNC1H1):c.9714C>G (p.Asp3238Glu)
|
rs1220860441
|
0.00001
|
NM_001376.5(DYNC1H1):c.9759G>A (p.Lys3253=)
|
rs889733179
|
0.00001
|
NM_001376.5(DYNC1H1):c.9762+6G>A
|
rs773552333
|
0.00001
|
NM_001376.5(DYNC1H1):c.9790C>T (p.Leu3264=)
|
rs373682811
|
0.00001
|
NM_001376.5(DYNC1H1):c.9897C>T (p.Ile3299=)
|
rs778765369
|
0.00001
|
NM_001376.5(DYNC1H1):c.9936C>T (p.Asn3312=)
|
rs1258233095
|
0.00001
|
NM_001376.5(DYNC1H1):c.9944C>G (p.Ala3315Gly)
|
rs770981625
|
0.00001
|
NM_001376.5(DYNC1H1):c.994T>C (p.Tyr332His)
|
rs764842673
|
0.00001
|
NM_001376.5(DYNC1H1):c.9960G>A (p.Ala3320=)
|
rs746026558
|
0.00001
|
NM_001376.5(DYNC1H1):c.9975C>T (p.Cys3325=)
|
rs1274600876
|
0.00001
|
NM_001540.5(HSPB1):c.117G>A (p.Pro39=)
|
rs752555764
|
0.00001
|
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
|
rs1346600366
|
0.00001
|
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser)
|
rs546699221
|
0.00001
|
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs)
|
rs748762287
|
0.00001
|
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
|
rs773864816
|
0.00001
|
NM_001540.5(HSPB1):c.198C>T (p.Pro66=)
|
rs763909905
|
0.00001
|
NM_001540.5(HSPB1):c.21C>T (p.Pro7=)
|
rs759998200
|
0.00001
|
NM_001540.5(HSPB1):c.226G>C (p.Ala76Pro)
|
rs968191590
|
0.00001
|
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe)
|
rs1231796327
|
0.00001
|
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln)
|
rs926257693
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe)
|
rs773758650
|
0.00001
|
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu)
|
rs749378020
|
0.00001
|
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln)
|
rs1060503022
|
0.00001
|
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)
|
rs767672401
|
0.00001
|
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
|
rs761660005
|
0.00001
|
NM_001540.5(HSPB1):c.294C>T (p.Ser98=)
|
rs1294648668
|
0.00001
|
NM_001540.5(HSPB1):c.29T>A (p.Leu10His)
|
rs772216758
|
0.00001
|
NM_001540.5(HSPB1):c.33G>C (p.Leu11=)
|
rs199712600
|
0.00001
|
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
|
rs1803031652
|
0.00001
|
NM_001540.5(HSPB1):c.356A>T (p.Glu119Val)
|
rs759984050
|
0.00001
|
NM_001540.5(HSPB1):c.365-5_365-4del
|
rs752802110
|
0.00001
|
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
|
rs766728475
|
0.00001
|
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)
|
rs28939681
|
0.00001
|
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys)
|
rs1276548832
|
0.00001
|
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
|
rs748414486
|
0.00001
|
NM_001540.5(HSPB1):c.429-3C>T
|
rs1353004501
|
0.00001
|
NM_001540.5(HSPB1):c.429-7C>T
|
rs375972376
|
0.00001
|
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro)
|
rs771232749
|
0.00001
|
NM_001540.5(HSPB1):c.469C>T (p.Leu157=)
|
rs759976500
|
0.00001
|
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
|
rs1240900244
|
0.00001
|
NM_001540.5(HSPB1):c.47G>A (p.Trp16Ter)
|
rs973126266
|
0.00001
|
NM_001540.5(HSPB1):c.491C>T (p.Thr164Ile)
|
rs1193492001
|
0.00001
|
NM_001540.5(HSPB1):c.508C>A (p.Pro170Thr)
|
rs544435502
|
0.00001
|
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)
|
rs863225023
|
0.00001
|
NM_001540.5(HSPB1):c.552C>T (p.Thr184=)
|
rs1464655270
|
0.00001
|
NM_001540.5(HSPB1):c.567C>T (p.Ala189=)
|
rs528301561
|
0.00001
|
NM_001540.5(HSPB1):c.570G>C (p.Gln190His)
|
rs764297134
|
0.00001
|
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)
|
rs771457306
|
0.00001
|
NM_001540.5(HSPB1):c.91C>G (p.Gln31Glu)
|
rs775728229
|
0.00001
|
NM_001540.5(HSPB1):c.99C>T (p.Phe33=)
|
rs762032846
|
0.00001
|
NM_001605.3(AARS1):c.1002C>T (p.Tyr334=)
|
rs753317193
|
0.00001
|
NM_001605.3(AARS1):c.1003G>A (p.Ala335Thr)
|
rs765846298
|
0.00001
|
NM_001605.3(AARS1):c.1007A>G (p.His336Arg)
|
rs1025002934
|
0.00001
|
NM_001605.3(AARS1):c.1008T>C (p.His336=)
|
rs1374423400
|
0.00001
|
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
|
rs1054385792
|
0.00001
|
NM_001605.3(AARS1):c.1067C>T (p.Ser356Phe)
|
rs771898925
|
0.00001
|
NM_001605.3(AARS1):c.1073G>T (p.Gly358Val)
|
rs370368784
|
0.00001
|
NM_001605.3(AARS1):c.1075G>A (p.Asp359Asn)
|
rs1130535
|
0.00001
|
NM_001605.3(AARS1):c.1079C>G (p.Ala360Gly)
|
rs561829699
|
0.00001
|
NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu)
|
rs774143119
|
0.00001
|
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
|
rs1468385890
|
0.00001
|
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)
|
rs142128800
|
0.00001
|
NM_001605.3(AARS1):c.1168C>T (p.Arg390Cys)
|
rs759713590
|
0.00001
|
NM_001605.3(AARS1):c.1220C>A (p.Pro407His)
|
rs770557635
|
0.00001
|
NM_001605.3(AARS1):c.1230T>C (p.Thr410=)
|
rs748544878
|
0.00001
|
NM_001605.3(AARS1):c.1261C>G (p.Pro421Ala)
|
rs1157450521
|
0.00001
|
NM_001605.3(AARS1):c.1284T>A (p.Ile428=)
|
rs1210163050
|
0.00001
|
NM_001605.3(AARS1):c.1285G>A (p.Ala429Thr)
|
rs1446399906
|
0.00001
|
NM_001605.3(AARS1):c.1302G>A (p.Leu434=)
|
rs752566988
|
0.00001
|
NM_001605.3(AARS1):c.1306G>A (p.Val436Ile)
|
rs561137479
|
0.00001
|
NM_001605.3(AARS1):c.1334G>T (p.Arg445Met)
|
rs776515117
|
0.00001
|
NM_001605.3(AARS1):c.1347+10T>C
|
rs1424574012
|
0.00001
|
NM_001605.3(AARS1):c.1347+14A>T
|
rs915904032
|
0.00001
|
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)
|
rs1597439359
|
0.00001
|
NM_001605.3(AARS1):c.1398C>T (p.Asp466=)
|
rs770132954
|
0.00001
|
NM_001605.3(AARS1):c.1419C>G (p.Leu473=)
|
rs375571275
|
0.00001
|
NM_001605.3(AARS1):c.1426C>T (p.Arg476Trp)
|
rs780059987
|
0.00001
|
NM_001605.3(AARS1):c.1435G>A (p.Glu479Lys)
|
rs146082956
|
0.00001
|
NM_001605.3(AARS1):c.1437G>A (p.Glu479=)
|
rs751074806
|
0.00001
|
NM_001605.3(AARS1):c.1493-10C>T
|
rs529835734
|
0.00001
|
NM_001605.3(AARS1):c.1504A>G (p.Thr502Ala)
|
rs758003106
|
0.00001
|
NM_001605.3(AARS1):c.1533G>A (p.Arg511=)
|
rs375230340
|
0.00001
|
NM_001605.3(AARS1):c.1536G>A (p.Glu512=)
|
rs774309980
|
0.00001
|
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln)
|
rs1960156160
|
0.00001
|
NM_001605.3(AARS1):c.1554G>A (p.Glu518=)
|
rs746835558
|
0.00001
|
NM_001605.3(AARS1):c.155T>C (p.Ile52Thr)
|
rs200582917
|
0.00001
|
NM_001605.3(AARS1):c.1561A>G (p.Thr521Ala)
|
rs369465026
|
0.00001
|
NM_001605.3(AARS1):c.1578A>G (p.Gly526=)
|
rs376138540
|
0.00001
|
NM_001605.3(AARS1):c.1588G>A (p.Asp530Asn)
|
rs1479302877
|
0.00001
|
NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys)
|
rs756650948
|
0.00001
|
NM_001605.3(AARS1):c.1624A>T (p.Ile542Phe)
|
rs572187967
|
0.00001
|
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
|
rs764124393
|
0.00001
|
NM_001605.3(AARS1):c.1650G>A (p.Lys550=)
|
rs770856423
|
0.00001
|
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)
|
rs148659998
|
0.00001
|
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)
|
rs144982168
|
0.00001
|
NM_001605.3(AARS1):c.1672-10C>T
|
rs1245852151
|
0.00001
|
NM_001605.3(AARS1):c.1672-5C>T
|
rs371238822
|
0.00001
|
NM_001605.3(AARS1):c.1672-7C>G
|
rs1294076779
|
0.00001
|
NM_001605.3(AARS1):c.169A>G (p.Ile57Val)
|
rs372131127
|
0.00001
|
NM_001605.3(AARS1):c.170T>C (p.Ile57Thr)
|
rs567262501
|
0.00001
|
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu)
|
rs755027471
|
0.00001
|
NM_001605.3(AARS1):c.1727T>C (p.Ile576Thr)
|
rs753863962
|
0.00001
|
NM_001605.3(AARS1):c.1764G>C (p.Gln588His)
|
rs771478786
|
0.00001
|
NM_001605.3(AARS1):c.176C>T (p.Pro59Leu)
|
rs1337985053
|
0.00001
|
NM_001605.3(AARS1):c.1785+16G>C
|
rs375451856
|
0.00001
|
NM_001605.3(AARS1):c.1790G>A (p.Arg597Gln)
|
rs777597230
|
0.00001
|
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr)
|
rs1319699374
|
0.00001
|
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885
|
0.00001
|
NM_001605.3(AARS1):c.1840G>T (p.Ala614Ser)
|
rs780198710
|
0.00001
|
NM_001605.3(AARS1):c.1882T>C (p.Leu628=)
|
rs200896501
|
0.00001
|
NM_001605.3(AARS1):c.1894G>C (p.Asp632His)
|
rs765977339
|
0.00001
|
NM_001605.3(AARS1):c.1907T>G (p.Phe636Cys)
|
rs766999932
|
0.00001
|
NM_001605.3(AARS1):c.1943A>G (p.Gln648Arg)
|
rs746047868
|
0.00001
|
NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg)
|
rs142233951
|
0.00001
|
NM_001605.3(AARS1):c.1962G>A (p.Glu654=)
|
rs1291557995
|
0.00001
|
NM_001605.3(AARS1):c.1992+11C>T
|
rs756739953
|
0.00001
|
NM_001605.3(AARS1):c.1992+14C>T
|
rs945873486
|
0.00001
|
NM_001605.3(AARS1):c.1993-9G>C
|
rs1410746723
|
0.00001
|
NM_001605.3(AARS1):c.1995C>T (p.Ala665=)
|
rs754212203
|
0.00001
|
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)
|
rs145056270
|
0.00001
|
NM_001605.3(AARS1):c.2017C>T (p.Leu673=)
|
rs762839576
|
0.00001
|
NM_001605.3(AARS1):c.2027C>T (p.Ala676Val)
|
rs371114066
|
0.00001
|
NM_001605.3(AARS1):c.2047C>T (p.Arg683Trp)
|
rs866956348
|
0.00001
|
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln)
|
rs371048516
|
0.00001
|
NM_001605.3(AARS1):c.2079T>C (p.Pro693=)
|
rs766834986
|
0.00001
|
NM_001605.3(AARS1):c.2083C>T (p.Arg695Ter)
|
rs761043713
|
0.00001
|
NM_001605.3(AARS1):c.2084G>A (p.Arg695Gln)
|
rs377378009
|
0.00001
|
NM_001605.3(AARS1):c.2095A>T (p.Ile699Phe)
|
rs1427798398
|
0.00001
|
NM_001605.3(AARS1):c.2103C>T (p.Val701=)
|
rs1476539357
|
0.00001
|
NM_001605.3(AARS1):c.2106G>A (p.Pro702=)
|
rs746709009
|
0.00001
|
NM_001605.3(AARS1):c.2109G>C (p.Val703=)
|
rs777499923
|
0.00001
|
NM_001605.3(AARS1):c.2112C>T (p.Ser704=)
|
rs936240936
|
0.00001
|
NM_001605.3(AARS1):c.2118G>C (p.Leu706Phe)
|
rs201097032
|
0.00001
|
NM_001605.3(AARS1):c.2119C>T (p.Leu707=)
|
rs1597435214
|
0.00001
|
NM_001605.3(AARS1):c.2130C>T (p.Pro710=)
|
rs780604407
|
0.00001
|
NM_001605.3(AARS1):c.2137C>T (p.Pro713Ser)
|
rs750769245
|
0.00001
|
NM_001605.3(AARS1):c.2154T>G (p.Thr718=)
|
rs1410315443
|
0.00001
|
NM_001605.3(AARS1):c.2177+1G>A
|
rs766251338
|
0.00001
|
NM_001605.3(AARS1):c.2178-7C>T
|
rs773114681
|
0.00001
|
NM_001605.3(AARS1):c.2191T>G (p.Ser731Ala)
|
rs139720461
|
0.00001
|
NM_001605.3(AARS1):c.2199T>C (p.His733=)
|
rs781647738
|
0.00001
|
NM_001605.3(AARS1):c.2238C>T (p.Ala746=)
|
rs767405300
|
0.00001
|
NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile)
|
rs769394060
|
0.00001
|
NM_001605.3(AARS1):c.226A>G (p.Ile76Val)
|
rs1274784611
|
0.00001
|
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg)
|
rs1224948634
|
0.00001
|
NM_001605.3(AARS1):c.2287-13T>G
|
rs553083906
|
0.00001
|
NM_001605.3(AARS1):c.2288C>T (p.Ala763Val)
|
rs777776042
|
0.00001
|
NM_001605.3(AARS1):c.2326G>C (p.Val776Leu)
|
rs373664027
|
0.00001
|
NM_001605.3(AARS1):c.2335G>A (p.Ala779Thr)
|
rs767954906
|
0.00001
|
NM_001605.3(AARS1):c.2385C>T (p.Ile795=)
|
rs1283711323
|
0.00001
|
NM_001605.3(AARS1):c.2395G>A (p.Gly799Arg)
|
rs1161734697
|
0.00001
|
NM_001605.3(AARS1):c.2396G>T (p.Gly799Val)
|
rs1959931902
|
0.00001
|
NM_001605.3(AARS1):c.2400+8C>T
|
rs113824201
|
0.00001
|
NM_001605.3(AARS1):c.2401-17T>C
|
rs1200891254
|
0.00001
|
NM_001605.3(AARS1):c.2403C>G (p.Ala801=)
|
rs771133578
|
0.00001
|
NM_001605.3(AARS1):c.2409C>T (p.Ala803=)
|
rs1329271301
|
0.00001
|
NM_001605.3(AARS1):c.2412T>C (p.Thr804=)
|
rs761717573
|
0.00001
|
NM_001605.3(AARS1):c.2440G>A (p.Glu814Lys)
|
rs533029846
|
0.00001
|
NM_001605.3(AARS1):c.2453C>T (p.Thr818Ile)
|
rs753158346
|
0.00001
|
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile)
|
rs1385044712
|
0.00001
|
NM_001605.3(AARS1):c.2491C>T (p.Arg831Ter)
|
rs1959913185
|
0.00001
|
NM_001605.3(AARS1):c.2518C>T (p.Arg840Ter)
|
rs1173826571
|
0.00001
|
NM_001605.3(AARS1):c.2521-5T>G
|
rs1555539335
|
0.00001
|
NM_001605.3(AARS1):c.2535G>A (p.Thr845=)
|
rs770634653
|
0.00001
|
NM_001605.3(AARS1):c.2562C>G (p.Asn854Lys)
|
rs1260237711
|
0.00001
|
NM_001605.3(AARS1):c.2569C>G (p.Leu857Val)
|
rs780261077
|
0.00001
|
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)
|
rs763757370
|
0.00001
|
NM_001605.3(AARS1):c.2608-17C>T
|
rs955702969
|
0.00001
|
NM_001605.3(AARS1):c.2611C>T (p.Leu871=)
|
rs777889928
|
0.00001
|
NM_001605.3(AARS1):c.2628G>C (p.Lys876Asn)
|
rs758488318
|
0.00001
|
NM_001605.3(AARS1):c.2629C>G (p.Leu877Val)
|
rs1959893208
|
0.00001
|
NM_001605.3(AARS1):c.2665C>T (p.Leu889Phe)
|
rs751242154
|
0.00001
|
NM_001605.3(AARS1):c.267C>T (p.Gly89=)
|
rs1960568594
|
0.00001
|
NM_001605.3(AARS1):c.2686G>A (p.Ala896Thr)
|
rs1295851671
|
0.00001
|
NM_001605.3(AARS1):c.2721+3C>G
|
rs1318032456
|
0.00001
|
NM_001605.3(AARS1):c.2735G>A (p.Arg912Gln)
|
rs777686119
|
0.00001
|
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)
|
rs369774476
|
0.00001
|
NM_001605.3(AARS1):c.2835T>C (p.Val945=)
|
rs1192286853
|
0.00001
|
NM_001605.3(AARS1):c.2845C>G (p.Gln949Glu)
|
rs375263515
|
0.00001
|
NM_001605.3(AARS1):c.284A>C (p.His95Pro)
|
rs764793550
|
0.00001
|
NM_001605.3(AARS1):c.288C>T (p.Thr96=)
|
rs1373682530
|
0.00001
|
NM_001605.3(AARS1):c.295G>A (p.Glu99Lys)
|
rs777170136
|
0.00001
|
NM_001605.3(AARS1):c.310T>C (p.Trp104Arg)
|
rs1057520616
|
0.00001
|
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)
|
rs1398433261
|
0.00001
|
NM_001605.3(AARS1):c.417C>T (p.Gly139=)
|
rs758260278
|
0.00001
|
NM_001605.3(AARS1):c.479+5G>T
|
rs1487772006
|
0.00001
|
NM_001605.3(AARS1):c.482T>C (p.Leu161Pro)
|
rs1960417011
|
0.00001
|
NM_001605.3(AARS1):c.498C>T (p.Ile166=)
|
rs999924082
|
0.00001
|
NM_001605.3(AARS1):c.506G>A (p.Gly169Asp)
|
rs1362856733
|
0.00001
|
NM_001605.3(AARS1):c.510C>A (p.Asn170Lys)
|
rs775904247
|
0.00001
|
NM_001605.3(AARS1):c.540C>T (p.Asp180=)
|
rs1486931495
|
0.00001
|
NM_001605.3(AARS1):c.549C>G (p.Pro183=)
|
rs749065539
|
0.00001
|
NM_001605.3(AARS1):c.56A>G (p.Lys19Arg)
|
rs776616726
|
0.00001
|
NM_001605.3(AARS1):c.576C>T (p.Tyr192=)
|
rs930696946
|
0.00001
|
NM_001605.3(AARS1):c.577G>A (p.Asp193Asn)
|
rs376700046
|
0.00001
|
NM_001605.3(AARS1):c.580C>T (p.Arg194Trp)
|
rs764675357
|
0.00001
|
NM_001605.3(AARS1):c.581G>A (p.Arg194Gln)
|
rs1033300766
|
0.00001
|
NM_001605.3(AARS1):c.5A>G (p.Asp2Gly)
|
rs1485992879
|
0.00001
|
NM_001605.3(AARS1):c.620A>G (p.Asp207Gly)
|
rs1960410669
|
0.00001
|
NM_001605.3(AARS1):c.634C>T (p.Leu212=)
|
rs777378111
|
0.00001
|
NM_001605.3(AARS1):c.63C>T (p.Asn21=)
|
rs773045737
|
0.00001
|
NM_001605.3(AARS1):c.642C>A (p.Ile214=)
|
rs758977241
|
0.00001
|
NM_001605.3(AARS1):c.663G>C (p.Gln221His)
|
rs1028028699
|
0.00001
|
NM_001605.3(AARS1):c.704A>G (p.Lys235Arg)
|
rs755350912
|
0.00001
|
NM_001605.3(AARS1):c.70A>C (p.Thr24Pro)
|
rs768158204
|
0.00001
|
NM_001605.3(AARS1):c.71C>T (p.Thr24Met)
|
rs1227942516
|
0.00001
|
NM_001605.3(AARS1):c.720_721del (p.Gly241fs)
|
rs977976041
|
0.00001
|
NM_001605.3(AARS1):c.726G>A (p.Met242Ile)
|
rs780360628
|
0.00001
|
NM_001605.3(AARS1):c.72G>A (p.Thr24=)
|
rs780609058
|
0.00001
|
NM_001605.3(AARS1):c.751C>T (p.Leu251=)
|
rs375106256
|
0.00001
|
NM_001605.3(AARS1):c.760A>C (p.Lys254Gln)
|
rs770790585
|
0.00001
|
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu)
|
rs1374950172
|
0.00001
|
NM_001605.3(AARS1):c.816+10C>G
|
rs780413612
|
0.00001
|
NM_001605.3(AARS1):c.817-20C>T
|
rs761335139
|
0.00001
|
NM_001605.3(AARS1):c.817-4A>G
|
rs746210439
|
0.00001
|
NM_001605.3(AARS1):c.81C>T (p.His27=)
|
rs750765656
|
0.00001
|
NM_001605.3(AARS1):c.829C>T (p.Arg277Ter)
|
rs200032881
|
0.00001
|
NM_001605.3(AARS1):c.835T>C (p.Tyr279His)
|
rs1232484436
|
0.00001
|
NM_001605.3(AARS1):c.837C>T (p.Tyr279=)
|
rs201865481
|
0.00001
|
NM_001605.3(AARS1):c.848T>C (p.Val283Ala)
|
rs761545263
|
0.00001
|
NM_001605.3(AARS1):c.864C>T (p.Ala288=)
|
rs765247500
|
0.00001
|
NM_001605.3(AARS1):c.886C>T (p.Arg296Trp)
|
rs1225401608
|
0.00001
|
NM_001605.3(AARS1):c.889G>C (p.Val297Leu)
|
rs1329713999
|
0.00001
|
NM_001605.3(AARS1):c.8C>G (p.Ser3Cys)
|
rs946227383
|
0.00001
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp)
|
rs1302363015
|
0.00001
|
NM_001605.3(AARS1):c.919G>A (p.Val307Met)
|
rs1316227824
|
0.00001
|
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)
|
rs886052256
|
0.00001
|
NM_001605.3(AARS1):c.935G>A (p.Gly312Asp)
|
rs777824151
|
0.00001
|
NM_001605.3(AARS1):c.952A>G (p.Thr318Ala)
|
rs868291701
|
0.00001
|
NM_001605.3(AARS1):c.957G>A (p.Gly319=)
|
rs762546700
|
0.00001
|
NM_001605.3(AARS1):c.962+15C>T
|
rs779150762
|
0.00001
|
NM_001605.3(AARS1):c.963-6T>C
|
rs768897279
|
0.00001
|
NM_001605.3(AARS1):c.963A>G (p.Gly321=)
|
rs775592737
|
0.00001
|
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)
|
rs777601008
|
0.00001
|
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)
|
rs758183257
|
0.00001
|
NM_001605.3(AARS1):c.998G>A (p.Arg333Gln)
|
rs778511459
|
0.00001
|
NM_001605.3(AARS1):c.9T>G (p.Ser3=)
|
rs539360231
|
0.00001
|
NM_002047.4(GARS1):c.1000A>G (p.Ile334Val)
|
rs1554338260
|
0.00001
|
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)
|
rs1189675611
|
0.00001
|
NM_002047.4(GARS1):c.1031+9del
|
rs746178135
|
0.00001
|
NM_002047.4(GARS1):c.1042A>G (p.Met348Val)
|
rs368832379
|
0.00001
|
NM_002047.4(GARS1):c.1059C>T (p.His353=)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.1087C>G (p.Pro363Ala)
|
rs267601479
|
0.00001
|
NM_002047.4(GARS1):c.1107A>C (p.Ala369=)
|
rs1562777680
|
0.00001
|
NM_002047.4(GARS1):c.114G>T (p.Ala38=)
|
rs764791266
|
0.00001
|
NM_002047.4(GARS1):c.1195-19T>C
|
rs377525562
|
0.00001
|
NM_002047.4(GARS1):c.1234C>T (p.Arg412Cys)
|
rs770924455
|
0.00001
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
rs746139865
|
0.00001
|
NM_002047.4(GARS1):c.1254G>A (p.Thr418=)
|
rs552538763
|
0.00001
|
NM_002047.4(GARS1):c.125C>T (p.Pro42Leu)
|
rs1316245045
|
0.00001
|
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe)
|
rs774169230
|
0.00001
|
NM_002047.4(GARS1):c.1359+1G>A
|
rs868796615
|
0.00001
|
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn)
|
rs368388267
|
0.00001
|
NM_002047.4(GARS1):c.1432G>A (p.Val478Ile)
|
rs1238026762
|
0.00001
|
NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu)
|
rs1159290036
|
0.00001
|
NM_002047.4(GARS1):c.1487A>G (p.Gln496Arg)
|
rs1325522512
|
0.00001
|
NM_002047.4(GARS1):c.1511T>C (p.Ile504Thr)
|
rs762264480
|
0.00001
|
NM_002047.4(GARS1):c.1573T>C (p.Cys525Arg)
|
rs752812365
|
0.00001
|
NM_002047.4(GARS1):c.1612G>C (p.Gly538Arg)
|
rs1415135637
|
0.00001
|
NM_002047.4(GARS1):c.1613+7T>C
|
rs374795892
|
0.00001
|
NM_002047.4(GARS1):c.1624A>G (p.Ile542Val)
|
rs1060502837
|
0.00001
|
NM_002047.4(GARS1):c.162C>T (p.Ser54=)
|
rs758434035
|
0.00001
|
NM_002047.4(GARS1):c.1700-17T>C
|
rs775676664
|
0.00001
|
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr)
|
rs754547488
|
0.00001
|
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn)
|
rs864622616
|
0.00001
|
NM_002047.4(GARS1):c.1755G>A (p.Met585Ile)
|
rs780441296
|
0.00001
|
NM_002047.4(GARS1):c.1782T>C (p.His594=)
|
rs762072215
|
0.00001
|
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala)
|
rs373694973
|
0.00001
|
NM_002047.4(GARS1):c.1809+16C>T
|
rs752229312
|
0.00001
|
NM_002047.4(GARS1):c.1829T>C (p.Val610Ala)
|
rs1554340666
|
0.00001
|
NM_002047.4(GARS1):c.1836T>G (p.Ala612=)
|
rs759595437
|
0.00001
|
NM_002047.4(GARS1):c.1854C>T (p.Val618=)
|
rs1783234008
|
0.00001
|
NM_002047.4(GARS1):c.1859C>T (p.Pro620Leu)
|
rs892958904
|
0.00001
|
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp)
|
rs1554336540
|
0.00001
|
NM_002047.4(GARS1):c.1904-3T>A
|
rs775575408
|
0.00001
|
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)
|
rs773889809
|
0.00001
|
NM_002047.4(GARS1):c.1960A>G (p.Ile654Val)
|
rs1406586832
|
0.00001
|
NM_002047.4(GARS1):c.1969C>T (p.Arg657Cys)
|
rs781585447
|
0.00001
|
NM_002047.4(GARS1):c.1996G>A (p.Val666Met)
|
rs544634101
|
0.00001
|
NM_002047.4(GARS1):c.2008G>C (p.Val670Leu)
|
rs376585160
|
0.00001
|
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)
|
rs879254346
|
0.00001
|
NM_002047.4(GARS1):c.2044C>A (p.His682Asn)
|
rs1437642803
|
0.00001
|
NM_002047.4(GARS1):c.2064C>T (p.Asp688=)
|
rs528105619
|
0.00001
|
NM_002047.4(GARS1):c.207A>G (p.Leu69=)
|
rs891212642
|
0.00001
|
NM_002047.4(GARS1):c.208G>C (p.Ala70Pro)
|
rs1008199275
|
0.00001
|
NM_002047.4(GARS1):c.2108C>T (p.Pro703Leu)
|
rs1002052289
|
0.00001
|
NM_002047.4(GARS1):c.2123A>T (p.Asp708Val)
|
rs776108138
|
0.00001
|
NM_002047.4(GARS1):c.2156T>C (p.Val719Ala)
|
rs750501453
|
0.00001
|
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)
|
rs530891983
|
0.00001
|
NM_002047.4(GARS1):c.2177T>C (p.Phe726Ser)
|
rs1397264514
|
0.00001
|
NM_002047.4(GARS1):c.2205G>A (p.Glu735=)
|
rs746553499
|
0.00001
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274
|
0.00001
|
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly)
|
rs780858299
|
0.00001
|
NM_002047.4(GARS1):c.234G>A (p.Val78=)
|
rs376199921
|
0.00001
|
NM_002047.4(GARS1):c.281C>A (p.Ala94Glu)
|
rs1389930859
|
0.00001
|
NM_002047.4(GARS1):c.300C>G (p.Ala100=)
|
rs781432743
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002047.4(GARS1):c.352A>G (p.Ile118Val)
|
rs200025018
|
0.00001
|
NM_002047.4(GARS1):c.362G>A (p.Arg121Gln)
|
rs1363263798
|
0.00001
|
NM_002047.4(GARS1):c.37C>T (p.Arg13Cys)
|
rs1467460367
|
0.00001
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272
|
0.00001
|
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys)
|
rs898879117
|
0.00001
|
NM_002047.4(GARS1):c.427+12A>G
|
rs1171383899
|
0.00001
|
NM_002047.4(GARS1):c.427+14G>T
|
rs1451264630
|
0.00001
|
NM_002047.4(GARS1):c.436G>A (p.Gly146Ser)
|
rs1309618721
|
0.00001
|
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe)
|
rs367915362
|
0.00001
|
NM_002047.4(GARS1):c.478A>G (p.Asn160Asp)
|
rs372198757
|
0.00001
|
NM_002047.4(GARS1):c.492C>G (p.Thr164=)
|
rs368297381
|
0.00001
|
NM_002047.4(GARS1):c.507T>C (p.Phe169=)
|
rs1791368083
|
0.00001
|
NM_002047.4(GARS1):c.585A>T (p.Val195=)
|
rs1272746326
|
0.00001
|
NM_002047.4(GARS1):c.615C>T (p.Asp205=)
|
rs370008019
|
0.00001
|
NM_002047.4(GARS1):c.658+17C>T
|
rs761669283
|
0.00001
|
NM_002047.4(GARS1):c.662A>G (p.His221Arg)
|
rs1279978899
|
0.00001
|
NM_002047.4(GARS1):c.668A>G (p.Gln223Arg)
|
rs750901652
|
0.00001
|
NM_002047.4(GARS1):c.671A>T (p.Lys224Ile)
|
rs756641901
|
0.00001
|
NM_002047.4(GARS1):c.723T>C (p.Ser241=)
|
rs767839744
|
0.00001
|
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys)
|
rs756629704
|
0.00001
|
NM_002047.4(GARS1):c.737T>G (p.Leu246Arg)
|
rs200437855
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_002047.4(GARS1):c.804T>C (p.Thr268=)
|
rs774076531
|
0.00001
|
NM_002047.4(GARS1):c.843G>A (p.Met281Ile)
|
rs545669679
|
0.00001
|
NM_002047.4(GARS1):c.855C>G (p.Phe285Leu)
|
rs786204099
|
0.00001
|
NM_002047.4(GARS1):c.881+20T>C
|
rs781026645
|
0.00001
|
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala)
|
rs774283805
|
0.00001
|
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr)
|
rs145076368
|
0.00001
|
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn)
|
rs1022216138
|
0.00001
|
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp)
|
rs567322475
|
0.00001
|
NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=)
|
rs773013486
|
0.00001
|
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala)
|
rs1033402228
|
0.00001
|
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)
|
rs886043773
|
0.00001
|
NM_002180.3(IGHMBP2):c.1061-2A>G
|
rs1424522130
|
0.00001
|
NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=)
|
rs1247103419
|
0.00001
|
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
|
rs1398038802
|
0.00001
|
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys)
|
rs759014082
|
0.00001
|
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr)
|
rs756791529
|
0.00001
|
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met)
|
rs770912338
|
0.00001
|
NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val)
|
rs374845226
|
0.00001
|
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)
|
rs1193634362
|
0.00001
|
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
|
rs760811074
|
0.00001
|
NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=)
|
rs35995205
|
0.00001
|
NM_002180.3(IGHMBP2):c.1140C>T (p.Ala380=)
|
rs1176740254
|
0.00001
|
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val)
|
rs876661217
|
0.00001
|
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
|
rs372477029
|
0.00001
|
NM_002180.3(IGHMBP2):c.1167G>C (p.Leu389=)
|
rs369809006
|
0.00001
|
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=)
|
rs756733490
|
0.00001
|
NM_002180.3(IGHMBP2):c.1197C>T (p.Gly399=)
|
rs377631839
|
0.00001
|
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)
|
rs779654686
|
0.00001
|
NM_002180.3(IGHMBP2):c.1235+9C>T
|
rs553889213
|
0.00001
|
NM_002180.3(IGHMBP2):c.1236-4G>A
|
rs746867102
|
0.00001
|
NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val)
|
rs1465465295
|
0.00001
|
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg)
|
rs749343954
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)
|
rs769046350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg)
|
rs1555247218
|
0.00001
|
NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=)
|
rs759035035
|
0.00001
|
NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=)
|
rs368706911
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
|
rs757304363
|
0.00001
|
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg)
|
rs571142182
|
0.00001
|
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
|
rs149628807
|
0.00001
|
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=)
|
rs1209510520
|
0.00001
|
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys)
|
rs374363750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg)
|
rs751446350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=)
|
rs1321342951
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu)
|
rs755120725
|
0.00001
|
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=)
|
rs1302845532
|
0.00001
|
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg)
|
rs1555247334
|
0.00001
|
NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=)
|
rs1368846781
|
0.00001
|
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=)
|
rs370367228
|
0.00001
|
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser)
|
rs201964221
|
0.00001
|
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=)
|
rs538496164
|
0.00001
|
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=)
|
rs1210997043
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+17A>G
|
rs1164525405
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+9G>C
|
rs1859419581
|
0.00001
|
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)
|
rs137852665
|
0.00001
|
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
|
rs373017768
|
0.00001
|
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr)
|
rs759965718
|
0.00001
|
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)
|
rs988590959
|
0.00001
|
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=)
|
rs746241618
|
0.00001
|
NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=)
|
rs747822666
|
0.00001
|
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
|
rs1479493690
|
0.00001
|
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
|
rs768685672
|
0.00001
|
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys)
|
rs201649839
|
0.00001
|
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His)
|
rs571887680
|
0.00001
|
NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=)
|
rs200081534
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+13C>T
|
rs568649635
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+17A>G
|
rs757390726
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+5G>A
|
rs1352994155
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+8G>T
|
rs1441125557
|
0.00001
|
NM_002180.3(IGHMBP2):c.1757-6T>C
|
rs1594455341
|
0.00001
|
NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=)
|
rs1388384906
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr)
|
rs1240484547
|
0.00001
|
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431
|
0.00001
|
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys)
|
rs536556753
|
0.00001
|
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)
|
rs1057518943
|
0.00001
|
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val)
|
rs776775995
|
0.00001
|
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met)
|
rs752495359
|
0.00001
|
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
|
rs943195178
|
0.00001
|
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
|
rs774522176
|
0.00001
|
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile)
|
rs886048605
|
0.00001
|
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu)
|
rs1264599893
|
0.00001
|
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
|
rs375023053
|
0.00001
|
NM_002180.3(IGHMBP2):c.1983C>T (p.His661=)
|
rs752907111
|
0.00001
|
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr)
|
rs370166700
|
0.00001
|
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro)
|
rs1310268610
|
0.00001
|
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn)
|
rs1317117261
|
0.00001
|
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg)
|
rs1566446312
|
0.00001
|
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met)
|
rs377743886
|
0.00001
|
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=)
|
rs111366439
|
0.00001
|
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
|
rs767422655
|
0.00001
|
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=)
|
rs886048606
|
0.00001
|
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln)
|
rs943141487
|
0.00001
|
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=)
|
rs372382180
|
0.00001
|
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
|
rs1042372226
|
0.00001
|
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
|
rs766757770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg)
|
rs1191974842
|
0.00001
|
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
|
rs1462234845
|
0.00001
|
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser)
|
rs771844457
|
0.00001
|
NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=)
|
rs773046519
|
0.00001
|
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val)
|
rs750717921
|
0.00001
|
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
|
rs1444267409
|
0.00001
|
NM_002180.3(IGHMBP2):c.2259C>T (p.His753=)
|
rs777663590
|
0.00001
|
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn)
|
rs200499838
|
0.00001
|
NM_002180.3(IGHMBP2):c.2307C>T (p.His769=)
|
rs909093295
|
0.00001
|
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
|
rs760946663
|
0.00001
|
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
|
rs1317637789
|
0.00001
|
NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=)
|
rs1349360990
|
0.00001
|
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
|
rs543060051
|
0.00001
|
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=)
|
rs187924099
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
|
rs769685389
|
0.00001
|
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)
|
rs761789207
|
0.00001
|
NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=)
|
rs763818374
|
0.00001
|
NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=)
|
rs1429055770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val)
|
rs779854653
|
0.00001
|
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=)
|
rs1594415602
|
0.00001
|
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup)
|
rs1267983821
|
0.00001
|
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=)
|
rs1057524376
|
0.00001
|
NM_002180.3(IGHMBP2):c.2496G>A (p.Thr832=)
|
rs756948501
|
0.00001
|
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=)
|
rs371840404
|
0.00001
|
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser)
|
rs1131691275
|
0.00001
|
NM_002180.3(IGHMBP2):c.256+7G>A
|
rs1312545588
|
0.00001
|
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg)
|
rs1300949116
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+1G>T
|
rs786205090
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+9A>G
|
rs778897070
|
0.00001
|
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu)
|
rs772539742
|
0.00001
|
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
|
rs770556515
|
0.00001
|
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr)
|
rs149294713
|
0.00001
|
NM_002180.3(IGHMBP2):c.267G>C (p.Val89=)
|
rs932085759
|
0.00001
|
NM_002180.3(IGHMBP2):c.2688C>G (p.Thr896=)
|
rs1566448372
|
0.00001
|
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
|
rs766526224
|
0.00001
|
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
|
rs748491290
|
0.00001
|
NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=)
|
rs1234917202
|
0.00001
|
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys)
|
rs199962477
|
0.00001
|
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met)
|
rs761854167
|
0.00001
|
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=)
|
rs112870015
|
0.00001
|
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
|
rs763336691
|
0.00001
|
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
|
rs557641477
|
0.00001
|
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln)
|
rs373408947
|
0.00001
|
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=)
|
rs778821393
|
0.00001
|
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp)
|
rs760004229
|
0.00001
|
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg)
|
rs199574747
|
0.00001
|
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys)
|
rs1361120114
|
0.00001
|
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys)
|
rs1471799706
|
0.00001
|
NM_002180.3(IGHMBP2):c.2928G>A (p.Lys976=)
|
rs749364778
|
0.00001
|
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
|
rs768924538
|
0.00001
|
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=)
|
rs773684186
|
0.00001
|
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=)
|
rs761315649
|
0.00001
|
NM_002180.3(IGHMBP2):c.2958C>T (p.Ser986=)
|
rs754380977
|
0.00001
|
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met)
|
rs777591006
|
0.00001
|
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp)
|
rs750026880
|
0.00001
|
NM_002180.3(IGHMBP2):c.342C>A (p.Val114=)
|
rs756861635
|
0.00001
|
NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=)
|
rs747166731
|
0.00001
|
NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val)
|
rs1034569953
|
0.00001
|
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg)
|
rs775782198
|
0.00001
|
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)
|
rs761440964
|
0.00001
|
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=)
|
rs1272309665
|
0.00001
|
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)
|
rs1324667543
|
0.00001
|
NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=)
|
rs752694569
|
0.00001
|
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
|
rs767665196
|
0.00001
|
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val)
|
rs750539690
|
0.00001
|
NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=)
|
rs1381446523
|
0.00001
|
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr)
|
rs754051200
|
0.00001
|
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg)
|
rs779086573
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+9T>G
|
rs886048603
|
0.00001
|
NM_002180.3(IGHMBP2):c.548-13G>T
|
rs1198884720
|
0.00001
|
NM_002180.3(IGHMBP2):c.585C>T (p.Ser195=)
|
rs1442536361
|
0.00001
|
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)
|
rs780802298
|
0.00001
|
NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=)
|
rs780961121
|
0.00001
|
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr)
|
rs768493454
|
0.00001
|
NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=)
|
rs761677597
|
0.00001
|
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=)
|
rs755634860
|
0.00001
|
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=)
|
rs748899869
|
0.00001
|
NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=)
|
rs1168042239
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+10G>C
|
rs1484976321
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+1G>C
|
rs774079947
|
0.00001
|
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=)
|
rs755582766
|
0.00001
|
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr)
|
rs774700020
|
0.00001
|
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys)
|
rs1033094612
|
0.00001
|
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg)
|
rs112495985
|
0.00001
|
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His)
|
rs892885630
|
0.00001
|
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn)
|
rs899517052
|
0.00001
|
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn)
|
rs768803582
|
0.00001
|
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile)
|
rs761171176
|
0.00001
|
NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=)
|
rs181492004
|
0.00001
|
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
|
rs758520241
|
0.00001
|
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu)
|
rs200079527
|
0.00001
|
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
|
rs555235493
|
0.00001
|
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg)
|
rs1323805346
|
0.00001
|
NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=)
|
rs1482496537
|
0.00001
|
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764
|
0.00001
|
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
|
rs201726883
|
0.00001
|
NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly)
|
rs763921769
|
0.00001
|
NM_003680.4(YARS1):c.1014C>G (p.Ser338Arg)
|
rs142035566
|
0.00001
|
NM_003680.4(YARS1):c.102G>A (p.Arg34=)
|
rs779620591
|
0.00001
|
NM_003680.4(YARS1):c.1049T>C (p.Met350Thr)
|
rs1490757097
|
0.00001
|
NM_003680.4(YARS1):c.1059C>T (p.Gly353=)
|
rs1220249736
|
0.00001
|
NM_003680.4(YARS1):c.1079C>A (p.Pro360Gln)
|
rs562054969
|
0.00001
|
NM_003680.4(YARS1):c.1100G>A (p.Arg367Gln)
|
rs762473756
|
0.00001
|
NM_003680.4(YARS1):c.1128C>T (p.Ile376=)
|
rs777332870
|
0.00001
|
NM_003680.4(YARS1):c.1140+6C>T
|
rs1653037113
|
0.00001
|
NM_003680.4(YARS1):c.1141-15G>A
|
rs576746700
|
0.00001
|
NM_003680.4(YARS1):c.1141-19T>C
|
rs1454139632
|
0.00001
|
NM_003680.4(YARS1):c.1141-4G>A
|
rs1227789369
|
0.00001
|
NM_003680.4(YARS1):c.1159C>T (p.Leu387=)
|
rs759944936
|
0.00001
|
NM_003680.4(YARS1):c.1180G>A (p.Val394Met)
|
rs863224717
|
0.00001
|
NM_003680.4(YARS1):c.1197A>G (p.Pro399=)
|
rs768603403
|
0.00001
|
NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln)
|
rs746892773
|
0.00001
|
NM_003680.4(YARS1):c.1207G>A (p.Val403Met)
|
rs745651845
|
0.00001
|
NM_003680.4(YARS1):c.1245G>A (p.Leu415=)
|
rs1162746032
|
0.00001
|
NM_003680.4(YARS1):c.1266G>T (p.Val422=)
|
rs772014071
|
0.00001
|
NM_003680.4(YARS1):c.126G>A (p.Thr42=)
|
rs765715989
|
0.00001
|
NM_003680.4(YARS1):c.1334+17A>C
|
rs754110699
|
0.00001
|
NM_003680.4(YARS1):c.1335-4C>G
|
rs747647475
|
0.00001
|
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu)
|
rs762042274
|
0.00001
|
NM_003680.4(YARS1):c.1415A>G (p.Tyr472Cys)
|
rs1214337748
|
0.00001
|
NM_003680.4(YARS1):c.1494T>C (p.Ser498=)
|
rs746559511
|
0.00001
|
NM_003680.4(YARS1):c.1503C>T (p.Cys501=)
|
rs145242872
|
0.00001
|
NM_003680.4(YARS1):c.1531A>G (p.Met511Val)
|
rs1569696187
|
0.00001
|
NM_003680.4(YARS1):c.1543G>A (p.Gly515Ser)
|
rs879254282
|
0.00001
|
NM_003680.4(YARS1):c.1549A>G (p.Ile517Val)
|
rs371220818
|
0.00001
|
NM_003680.4(YARS1):c.1584C>G (p.Ser528Arg)
|
rs774884649
|
0.00001
|
NM_003680.4(YARS1):c.166A>G (p.Met56Val)
|
rs141115281
|
0.00001
|
NM_003680.4(YARS1):c.176T>C (p.Ile59Thr)
|
rs774466323
|
0.00001
|
NM_003680.4(YARS1):c.181G>A (p.Asp61Asn)
|
rs776582429
|
0.00001
|
NM_003680.4(YARS1):c.190A>C (p.Lys64Gln)
|
rs1322723317
|
0.00001
|
NM_003680.4(YARS1):c.231C>T (p.His77=)
|
rs748789799
|
0.00001
|
NM_003680.4(YARS1):c.240G>A (p.Leu80=)
|
rs1205355927
|
0.00001
|
NM_003680.4(YARS1):c.277C>T (p.Arg93Ter)
|
rs781579762
|
0.00001
|
NM_003680.4(YARS1):c.322A>G (p.Ile108Val)
|
rs1467446637
|
0.00001
|
NM_003680.4(YARS1):c.363T>C (p.Thr121=)
|
rs1201696018
|
0.00001
|
NM_003680.4(YARS1):c.391C>T (p.Leu131=)
|
rs759430430
|
0.00001
|
NM_003680.4(YARS1):c.429C>T (p.His143=)
|
rs11544325
|
0.00001
|
NM_003680.4(YARS1):c.42C>T (p.Ile14=)
|
rs199894991
|
0.00001
|
NM_003680.4(YARS1):c.477T>C (p.Pro159=)
|
rs183753979
|
0.00001
|
NM_003680.4(YARS1):c.492C>T (p.Leu164=)
|
rs531812632
|
0.00001
|
NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)
|
rs1279417718
|
0.00001
|
NM_003680.4(YARS1):c.501C>T (p.Pro167=)
|
rs555572061
|
0.00001
|
NM_003680.4(YARS1):c.502G>A (p.Gly168Arg)
|
rs1473184666
|
0.00001
|
NM_003680.4(YARS1):c.511-18A>G
|
rs748245322
|
0.00001
|
NM_003680.4(YARS1):c.557T>C (p.Ile186Thr)
|
rs766166915
|
0.00001
|
NM_003680.4(YARS1):c.57+16T>C
|
rs897251122
|
0.00001
|
NM_003680.4(YARS1):c.57+1G>A
|
rs1309507387
|
0.00001
|
NM_003680.4(YARS1):c.58-2A>G
|
rs371699331
|
0.00001
|
NM_003680.4(YARS1):c.591+9C>T
|
rs776230316
|
0.00001
|
NM_003680.4(YARS1):c.592-6T>A
|
rs200233400
|
0.00001
|
NM_003680.4(YARS1):c.602C>T (p.Ala201Val)
|
rs1380442148
|
0.00001
|
NM_003680.4(YARS1):c.620G>A (p.Arg207Gln)
|
rs371267865
|
0.00001
|
NM_003680.4(YARS1):c.642G>A (p.Met214Ile)
|
rs930469813
|
0.00001
|
NM_003680.4(YARS1):c.684+10C>T
|
rs769981139
|
0.00001
|
NM_003680.4(YARS1):c.685-16G>A
|
rs767084238
|
0.00001
|
NM_003680.4(YARS1):c.709C>T (p.Arg237Trp)
|
rs1385295171
|
0.00001
|
NM_003680.4(YARS1):c.746T>G (p.Phe249Cys)
|
rs1009349245
|
0.00001
|
NM_003680.4(YARS1):c.763G>A (p.Val255Met)
|
rs768654208
|
0.00001
|
NM_003680.4(YARS1):c.819C>T (p.Ser273=)
|
rs751067449
|
0.00001
|
NM_003680.4(YARS1):c.827T>A (p.Val276Glu)
|
rs1395864629
|
0.00001
|
NM_003680.4(YARS1):c.830T>G (p.Ile277Ser)
|
rs760914990
|
0.00001
|
NM_003680.4(YARS1):c.877G>A (p.Val293Met)
|
rs746614278
|
0.00001
|
NM_003680.4(YARS1):c.880G>A (p.Asp294Asn)
|
rs779432834
|
0.00001
|
NM_003680.4(YARS1):c.922G>T (p.Asp308Tyr)
|
rs1207371448
|
0.00001
|
NM_003680.4(YARS1):c.977A>G (p.Glu326Gly)
|
rs1433806469
|
0.00001
|
NM_004637.6(RAB7A):c.152T>C (p.Met51Thr)
|
rs769771992
|
0.00001
|
NM_004637.6(RAB7A):c.174A>G (p.Thr58=)
|
rs1933611219
|
0.00001
|
NM_004637.6(RAB7A):c.18A>G (p.Lys6=)
|
rs1183281292
|
0.00001
|
NM_004637.6(RAB7A):c.21G>A (p.Val7=)
|
rs140857794
|
0.00001
|
NM_004637.6(RAB7A):c.252C>T (p.Cys84=)
|
rs778176566
|
0.00001
|
NM_004637.6(RAB7A):c.321C>T (p.Leu107=)
|
rs749227632
|
0.00001
|
NM_004637.6(RAB7A):c.400-10C>T
|
rs756353516
|
0.00001
|
NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp)
|
rs963894786
|
0.00001
|
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)
|
rs121909080
|
0.00001
|
NM_004637.6(RAB7A):c.533C>T (p.Thr178Met)
|
rs142747565
|
0.00001
|
NM_004637.6(RAB7A):c.543G>A (p.Glu181=)
|
rs887111279
|
0.00001
|
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)
|
rs779472408
|
0.00001
|
NM_004990.4(MARS1):c.1008C>T (p.Tyr336=)
|
rs764131535
|
0.00001
|
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
|
rs746654999
|
0.00001
|
NM_004990.4(MARS1):c.1091+4A>G
|
rs987991720
|
0.00001
|
NM_004990.4(MARS1):c.1092-6C>T
|
rs747944261
|
0.00001
|
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)
|
rs140467171
|
0.00001
|
NM_004990.4(MARS1):c.1162C>T (p.Arg388Ter)
|
rs754698410
|
0.00001
|
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
|
rs1280661109
|
0.00001
|
NM_004990.4(MARS1):c.1297C>T (p.Pro433Ser)
|
rs1450179852
|
0.00001
|
NM_004990.4(MARS1):c.1309G>A (p.Val437Ile)
|
rs1484877370
|
0.00001
|
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala)
|
rs1359914043
|
0.00001
|
NM_004990.4(MARS1):c.132C>T (p.Thr44=)
|
rs1555165361
|
0.00001
|
NM_004990.4(MARS1):c.1338G>A (p.Ser446=)
|
rs781410179
|
0.00001
|
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu)
|
rs1395622723
|
0.00001
|
NM_004990.4(MARS1):c.1368+15C>T
|
rs371511467
|
0.00001
|
NM_004990.4(MARS1):c.1379G>A (p.Arg460Gln)
|
rs750231101
|
0.00001
|
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly)
|
rs1408685568
|
0.00001
|
NM_004990.4(MARS1):c.1387G>T (p.Glu463Ter)
|
rs1313001176
|
0.00001
|
NM_004990.4(MARS1):c.1393T>C (p.Leu465=)
|
rs766084248
|
0.00001
|
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys)
|
rs781462684
|
0.00001
|
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
|
rs778085997
|
0.00001
|
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile)
|
rs1173899198
|
0.00001
|
NM_004990.4(MARS1):c.1477C>T (p.Arg493Cys)
|
rs747598332
|
0.00001
|
NM_004990.4(MARS1):c.1524A>G (p.Glu508=)
|
rs754137221
|
0.00001
|
NM_004990.4(MARS1):c.1594T>A (p.Tyr532Asn)
|
rs375218777
|
0.00001
|
NM_004990.4(MARS1):c.1642C>T (p.Leu548=)
|
rs922686526
|
0.00001
|
NM_004990.4(MARS1):c.1716G>A (p.Glu572=)
|
rs761794855
|
0.00001
|
NM_004990.4(MARS1):c.1772A>T (p.Asp591Val)
|
rs775880924
|
0.00001
|
NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys)
|
rs764601965
|
0.00001
|
NM_004990.4(MARS1):c.1793G>A (p.Arg598His)
|
rs749954063
|
0.00001
|
NM_004990.4(MARS1):c.1795G>A (p.Gly599Ser)
|
rs765972233
|
0.00001
|
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718
|
0.00001
|
NM_004990.4(MARS1):c.188G>A (p.Ser63Asn)
|
rs932854507
|
0.00001
|
NM_004990.4(MARS1):c.1931C>G (p.Ser644Cys)
|
rs1276192658
|
0.00001
|
NM_004990.4(MARS1):c.1968-19T>C
|
rs1010906235
|
0.00001
|
NM_004990.4(MARS1):c.1968-8C>T
|
rs1209991469
|
0.00001
|
NM_004990.4(MARS1):c.1976T>C (p.Met659Thr)
|
rs1156891377
|
0.00001
|
NM_004990.4(MARS1):c.2086C>T (p.Leu696Phe)
|
rs1877703051
|
0.00001
|
NM_004990.4(MARS1):c.2098C>T (p.Arg700Trp)
|
rs771306648
|
0.00001
|
NM_004990.4(MARS1):c.2104C>T (p.Arg702Trp)
|
rs587777228
|
0.00001
|
NM_004990.4(MARS1):c.2115G>A (p.Leu705=)
|
rs1372985175
|
0.00001
|
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr)
|
rs1051420158
|
0.00001
|
NM_004990.4(MARS1):c.2146A>G (p.Asn716Asp)
|
rs1386767973
|
0.00001
|
NM_004990.4(MARS1):c.2153A>G (p.Tyr718Cys)
|
rs769280984
|
0.00001
|
NM_004990.4(MARS1):c.2157T>G (p.Ile719Met)
|
rs1877717622
|
0.00001
|
NM_004990.4(MARS1):c.2237T>G (p.Val746Gly)
|
rs758918563
|
0.00001
|
NM_004990.4(MARS1):c.2290A>G (p.Ser764Gly)
|
rs773571063
|
0.00001
|
NM_004990.4(MARS1):c.2313G>T (p.Leu771=)
|
rs1381114924
|
0.00001
|
NM_004990.4(MARS1):c.2318T>C (p.Leu773Pro)
|
rs755480968
|
0.00001
|
NM_004990.4(MARS1):c.2347A>G (p.Thr783Ala)
|
rs946923506
|
0.00001
|
NM_004990.4(MARS1):c.2381A>G (p.Gln794Arg)
|
rs1489534290
|
0.00001
|
NM_004990.4(MARS1):c.2391+3A>G
|
rs995030286
|
0.00001
|
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro)
|
rs200404964
|
0.00001
|
NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu)
|
rs368995987
|
0.00001
|
NM_004990.4(MARS1):c.2612C>T (p.Ala871Val)
|
rs370631429
|
0.00001
|
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs)
|
rs1172463219
|
0.00001
|
NM_004990.4(MARS1):c.2650G>A (p.Ala884Thr)
|
rs778165066
|
0.00001
|
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg)
|
rs779548081
|
0.00001
|
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr)
|
rs28382854
|
0.00001
|
NM_004990.4(MARS1):c.2T>A (p.Met1Lys)
|
rs760194380
|
0.00001
|
NM_004990.4(MARS1):c.303C>G (p.Tyr101Ter)
|
rs912847491
|
0.00001
|
NM_004990.4(MARS1):c.323A>G (p.Lys108Arg)
|
rs1037400402
|
0.00001
|
NM_004990.4(MARS1):c.328G>C (p.Gly110Arg)
|
rs774655266
|
0.00001
|
NM_004990.4(MARS1):c.414+8G>A
|
rs371003913
|
0.00001
|
NM_004990.4(MARS1):c.432C>T (p.Ala144=)
|
rs1046252025
|
0.00001
|
NM_004990.4(MARS1):c.483C>T (p.Tyr161=)
|
rs1487140877
|
0.00001
|
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter)
|
rs753083306
|
0.00001
|
NM_004990.4(MARS1):c.595C>T (p.Arg199Trp)
|
rs776361792
|
0.00001
|
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr)
|
rs147034935
|
0.00001
|
NM_004990.4(MARS1):c.643G>A (p.Ala215Thr)
|
rs187172640
|
0.00001
|
NM_004990.4(MARS1):c.653A>G (p.Asn218Ser)
|
rs1875839426
|
0.00001
|
NM_004990.4(MARS1):c.663+8A>C
|
rs199843552
|
0.00001
|
NM_004990.4(MARS1):c.70G>A (p.Gly24Ser)
|
rs1227531274
|
0.00001
|
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro)
|
rs139033078
|
0.00001
|
NM_004990.4(MARS1):c.770T>C (p.Val257Ala)
|
rs200308742
|
0.00001
|
NM_004990.4(MARS1):c.782C>T (p.Ala261Val)
|
rs769280509
|
0.00001
|
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe)
|
rs776026574
|
0.00001
|
NM_004990.4(MARS1):c.87C>T (p.Leu29=)
|
rs755807464
|
0.00001
|
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)
|
rs773474721
|
0.00001
|
NM_004990.4(MARS1):c.999C>T (p.Cys333=)
|
rs775376086
|
0.00001
|
NM_005391.5(PDK3):c.106+18G>A
|
rs1044602433
|
0.00001
|
NM_005391.5(PDK3):c.1083T>C (p.Leu361=)
|
rs746261967
|
0.00001
|
NM_005391.5(PDK3):c.1125C>T (p.Ser375=)
|
rs772546760
|
0.00001
|
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met)
|
rs1442646183
|
0.00001
|
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys)
|
rs762702094
|
0.00001
|
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
|
rs757407648
|
0.00001
|
NM_005391.5(PDK3):c.160C>T (p.Pro54Ser)
|
rs1569221445
|
0.00001
|
NM_005391.5(PDK3):c.198T>C (p.Leu66=)
|
rs780465553
|
0.00001
|
NM_005391.5(PDK3):c.203C>T (p.Pro68Leu)
|
rs373610926
|
0.00001
|
NM_005391.5(PDK3):c.320+6T>C
|
rs748960946
|
0.00001
|
NM_005391.5(PDK3):c.321-8T>A
|
rs773363870
|
0.00001
|
NM_005391.5(PDK3):c.338T>C (p.Ile113Thr)
|
rs1569223291
|
0.00001
|
NM_005391.5(PDK3):c.427A>G (p.Ile143Val)
|
rs1057438680
|
0.00001
|
NM_005391.5(PDK3):c.474C>T (p.Arg158=)
|
rs756879455
|
0.00001
|
NM_005391.5(PDK3):c.506-7C>T
|
rs1195638386
|
0.00001
|
NM_005391.5(PDK3):c.51G>C (p.Glu17Asp)
|
rs371137355
|
0.00001
|
NM_005391.5(PDK3):c.523G>A (p.Asp175Asn)
|
rs149603823
|
0.00001
|
NM_005391.5(PDK3):c.577G>A (p.Val193Met)
|
rs764909872
|
0.00001
|
NM_005391.5(PDK3):c.595+3A>G
|
rs1227104182
|
0.00001
|
NM_005391.5(PDK3):c.596-4G>A
|
rs1376497125
|
0.00001
|
NM_005391.5(PDK3):c.609A>T (p.Thr203=)
|
rs1328563499
|
0.00001
|
NM_005391.5(PDK3):c.671A>G (p.Asn224Ser)
|
rs200598034
|
0.00001
|
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
|
rs1051776582
|
0.00001
|
NM_005391.5(PDK3):c.798C>A (p.Gly266=)
|
rs1250656724
|
0.00001
|
NM_005391.5(PDK3):c.811A>G (p.Lys271Glu)
|
rs1569227273
|
0.00001
|
NM_005391.5(PDK3):c.883C>A (p.Arg295=)
|
rs868382375
|
0.00001
|
NM_006096.4(NDRG1):c.1022G>A (p.Arg341His)
|
rs1392179290
|
0.00001
|
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His)
|
rs144714216
|
0.00001
|
NM_006096.4(NDRG1):c.1046G>A (p.Gly349Asp)
|
rs1209851405
|
0.00001
|
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)
|
rs1282857383
|
0.00001
|
NM_006096.4(NDRG1):c.106G>T (p.Asp36Tyr)
|
rs745832151
|
0.00001
|
NM_006096.4(NDRG1):c.1085G>A (p.Ser362Asn)
|
rs749124058
|
0.00001
|
NM_006096.4(NDRG1):c.1091C>T (p.Ser364Leu)
|
rs767058269
|
0.00001
|
NM_006096.4(NDRG1):c.111C>T (p.Ile37=)
|
rs1040626274
|
0.00001
|
NM_006096.4(NDRG1):c.1125C>T (p.Thr375=)
|
rs1433020796
|
0.00001
|
NM_006096.4(NDRG1):c.112G>A (p.Glu38Lys)
|
rs1399039574
|
0.00001
|
NM_006096.4(NDRG1):c.1136G>A (p.Gly379Asp)
|
rs1417950013
|
0.00001
|
NM_006096.4(NDRG1):c.1140T>C (p.Ala380=)
|
rs1184071181
|
0.00001
|
NM_006096.4(NDRG1):c.1146G>A (p.Gly382=)
|
rs761869008
|
0.00001
|
NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr)
|
rs1276408714
|
0.00001
|
NM_006096.4(NDRG1):c.1179C>T (p.Ser393=)
|
rs1429388363
|
0.00001
|
NM_006096.4(NDRG1):c.135C>T (p.His45=)
|
rs146924327
|
0.00001
|
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met)
|
rs756570592
|
0.00001
|
NM_006096.4(NDRG1):c.144G>T (p.Leu48=)
|
rs1856822376
|
0.00001
|
NM_006096.4(NDRG1):c.165C>T (p.Asn55=)
|
rs368056707
|
0.00001
|
NM_006096.4(NDRG1):c.166C>T (p.Arg56Trp)
|
rs769720211
|
0.00001
|
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter)
|
rs1048918488
|
0.00001
|
NM_006096.4(NDRG1):c.175A>C (p.Ile59Leu)
|
rs1404219858
|
0.00001
|
NM_006096.4(NDRG1):c.195C>T (p.Ile65=)
|
rs747826464
|
0.00001
|
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667
|
0.00001
|
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile)
|
rs1240902905
|
0.00001
|
NM_006096.4(NDRG1):c.205+1G>A
|
rs1060503092
|
0.00001
|
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)
|
rs368584363
|
0.00001
|
NM_006096.4(NDRG1):c.225C>T (p.Pro75=)
|
rs1399226663
|
0.00001
|
NM_006096.4(NDRG1):c.237C>T (p.Tyr79=)
|
rs199928197
|
0.00001
|
NM_006096.4(NDRG1):c.261G>A (p.Gln87=)
|
rs779852927
|
0.00001
|
NM_006096.4(NDRG1):c.264C>T (p.His88=)
|
rs745641689
|
0.00001
|
NM_006096.4(NDRG1):c.279C>T (p.His93=)
|
rs535621392
|
0.00001
|
NM_006096.4(NDRG1):c.303C>T (p.Asp101=)
|
rs765528167
|
0.00001
|
NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp)
|
rs1346600957
|
0.00001
|
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
|
rs144310406
|
0.00001
|
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser)
|
rs750194735
|
0.00001
|
NM_006096.4(NDRG1):c.389+13G>C
|
rs537705365
|
0.00001
|
NM_006096.4(NDRG1):c.389+9G>A
|
rs762349755
|
0.00001
|
NM_006096.4(NDRG1):c.38T>C (p.Val13Ala)
|
rs551852206
|
0.00001
|
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val)
|
rs762263620
|
0.00001
|
NM_006096.4(NDRG1):c.438A>C (p.Leu146=)
|
rs772535207
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_006096.4(NDRG1):c.459C>T (p.Asn153=)
|
rs1362437196
|
0.00001
|
NM_006096.4(NDRG1):c.477C>T (p.Gly159=)
|
rs747948344
|
0.00001
|
NM_006096.4(NDRG1):c.483C>T (p.Val161=)
|
rs778902905
|
0.00001
|
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
|
rs748782766
|
0.00001
|
NM_006096.4(NDRG1):c.537+15T>C
|
rs774062606
|
0.00001
|
NM_006096.4(NDRG1):c.537+17T>C
|
rs760837390
|
0.00001
|
NM_006096.4(NDRG1):c.537+6G>A
|
rs556570301
|
0.00001
|
NM_006096.4(NDRG1):c.538-10T>C
|
rs1856267945
|
0.00001
|
NM_006096.4(NDRG1):c.543A>C (p.Ser181=)
|
rs1856266963
|
0.00001
|
NM_006096.4(NDRG1):c.546A>G (p.Gly182=)
|
rs745362178
|
0.00001
|
NM_006096.4(NDRG1):c.559C>G (p.Leu187Val)
|
rs746650111
|
0.00001
|
NM_006096.4(NDRG1):c.563C>T (p.Pro188Leu)
|
rs779194865
|
0.00001
|
NM_006096.4(NDRG1):c.564G>A (p.Pro188=)
|
rs755317968
|
0.00001
|
NM_006096.4(NDRG1):c.571G>A (p.Val191Met)
|
rs749716207
|
0.00001
|
NM_006096.4(NDRG1):c.574G>A (p.Val192Met)
|
rs1256911364
|
0.00001
|
NM_006096.4(NDRG1):c.582C>G (p.His194Gln)
|
rs1305919985
|
0.00001
|
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe)
|
rs1295024326
|
0.00001
|
NM_006096.4(NDRG1):c.585T>A (p.Leu195=)
|
rs373490199
|
0.00001
|
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)
|
rs377257830
|
0.00001
|
NM_006096.4(NDRG1):c.594+8G>T
|
rs767524421
|
0.00001
|
NM_006096.4(NDRG1):c.595-12C>T
|
rs751730957
|
0.00001
|
NM_006096.4(NDRG1):c.612C>T (p.Asn204=)
|
rs766402088
|
0.00001
|
NM_006096.4(NDRG1):c.63+16C>T
|
rs377228732
|
0.00001
|
NM_006096.4(NDRG1):c.63+1G>A
|
rs1320417829
|
0.00001
|
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
|
rs1213776109
|
0.00001
|
NM_006096.4(NDRG1):c.64-11T>C
|
rs754822633
|
0.00001
|
NM_006096.4(NDRG1):c.640C>T (p.His214Tyr)
|
rs1855954315
|
0.00001
|
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)
|
rs1390282778
|
0.00001
|
NM_006096.4(NDRG1):c.64A>G (p.Thr22Ala)
|
rs755696955
|
0.00001
|
NM_006096.4(NDRG1):c.656T>A (p.Met219Lys)
|
rs147184316
|
0.00001
|
NM_006096.4(NDRG1):c.669C>T (p.Asn223=)
|
rs771616050
|
0.00001
|
NM_006096.4(NDRG1):c.699-16C>G
|
rs567104964
|
0.00001
|
NM_006096.4(NDRG1):c.699-3C>T
|
rs931942837
|
0.00001
|
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln)
|
rs755968590
|
0.00001
|
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
|
rs1337832950
|
0.00001
|
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln)
|
rs1463129303
|
0.00001
|
NM_006096.4(NDRG1):c.727A>G (p.Met243Val)
|
rs767505621
|
0.00001
|
NM_006096.4(NDRG1):c.732G>A (p.Pro244=)
|
rs532191834
|
0.00001
|
NM_006096.4(NDRG1):c.73G>C (p.Gly25Arg)
|
rs377527660
|
0.00001
|
NM_006096.4(NDRG1):c.741C>T (p.His247=)
|
rs755977835
|
0.00001
|
NM_006096.4(NDRG1):c.744A>G (p.Thr248=)
|
rs767500485
|
0.00001
|
NM_006096.4(NDRG1):c.755+9C>T
|
rs756756059
|
0.00001
|
NM_006096.4(NDRG1):c.756-9T>C
|
rs1456184015
|
0.00001
|
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
|
rs898573925
|
0.00001
|
NM_006096.4(NDRG1):c.788C>T (p.Ser263Leu)
|
rs770044182
|
0.00001
|
NM_006096.4(NDRG1):c.78C>T (p.Leu26=)
|
rs1458380202
|
0.00001
|
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp)
|
rs537161398
|
0.00001
|
NM_006096.4(NDRG1):c.805G>A (p.Val269Met)
|
rs750779893
|
0.00001
|
NM_006096.4(NDRG1):c.843C>T (p.Thr281=)
|
rs1272669552
|
0.00001
|
NM_006096.4(NDRG1):c.852C>T (p.Leu284=)
|
rs376272911
|
0.00001
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
NM_006096.4(NDRG1):c.855+8G>A
|
rs776826543
|
0.00001
|
NM_006096.4(NDRG1):c.860C>T (p.Ala287Val)
|
rs761760894
|
0.00001
|
NM_006096.4(NDRG1):c.870C>T (p.Gly290=)
|
rs1295553913
|
0.00001
|
NM_006096.4(NDRG1):c.891+11T>C
|
rs755495413
|
0.00001
|
NM_006096.4(NDRG1):c.891+15G>A
|
rs1554748576
|
0.00001
|
NM_006096.4(NDRG1):c.892-9C>G
|
rs987790520
|
0.00001
|
NM_006096.4(NDRG1):c.893C>T (p.Pro298Leu)
|
rs753836263
|
0.00001
|
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg)
|
rs1337997229
|
0.00001
|
NM_006096.4(NDRG1):c.900G>A (p.Lys300=)
|
rs1365117893
|
0.00001
|
NM_006096.4(NDRG1):c.903C>T (p.Leu301=)
|
rs752571083
|
0.00001
|
NM_006096.4(NDRG1):c.924C>T (p.Phe308=)
|
rs1376691366
|
0.00001
|
NM_006096.4(NDRG1):c.925G>A (p.Val309Met)
|
rs1855413937
|
0.00001
|
NM_006096.4(NDRG1):c.93T>C (p.Asp31=)
|
rs773317729
|
0.00001
|
NM_006096.4(NDRG1):c.943+7A>G
|
rs571439980
|
0.00001
|
NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg)
|
rs1033985666
|
0.00001
|
NM_006096.4(NDRG1):c.950C>T (p.Ser317Leu)
|
rs904186690
|
0.00001
|
NM_006096.4(NDRG1):c.975G>A (p.Arg325=)
|
rs375099070
|
0.00001
|
NM_006096.4(NDRG1):c.987C>T (p.Ala329=)
|
rs778770054
|
0.00001
|
NM_006158.5(NEFL):c.1006C>G (p.Leu336Val)
|
rs551896980
|
0.00001
|
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu)
|
rs781084022
|
0.00001
|
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)
|
rs368370291
|
0.00001
|
NM_006158.5(NEFL):c.1044+16A>G
|
rs559696196
|
0.00001
|
NM_006158.5(NEFL):c.1044+5G>C
|
rs779620367
|
0.00001
|
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)
|
rs745370680
|
0.00001
|
NM_006158.5(NEFL):c.1099C>T (p.Arg367Ter)
|
rs201616934
|
0.00001
|
NM_006158.5(NEFL):c.1131C>T (p.Asn377=)
|
rs754118787
|
0.00001
|
NM_006158.5(NEFL):c.1160C>A (p.Ala387Glu)
|
rs767498943
|
0.00001
|
NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln)
|
rs372997416
|
0.00001
|
NM_006158.5(NEFL):c.1213G>A (p.Val405Met)
|
rs558941336
|
0.00001
|
NM_006158.5(NEFL):c.123C>T (p.Ser41=)
|
rs57762083
|
0.00001
|
NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser)
|
rs756314395
|
0.00001
|
NM_006158.5(NEFL):c.1302G>A (p.Met434Ile)
|
rs922905627
|
0.00001
|
NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys)
|
rs1231546543
|
0.00001
|
NM_006158.5(NEFL):c.1320G>A (p.Pro440=)
|
rs541109299
|
0.00001
|
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)
|
rs773307364
|
0.00001
|
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)
|
rs1249514180
|
0.00001
|
NM_006158.5(NEFL):c.1380T>C (p.Ala460=)
|
rs774138147
|
0.00001
|
NM_006158.5(NEFL):c.1395A>G (p.Glu465=)
|
rs755320728
|
0.00001
|
NM_006158.5(NEFL):c.1428C>T (p.Ala476=)
|
rs1455394179
|
0.00001
|
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys)
|
rs749163947
|
0.00001
|
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys)
|
rs773570365
|
0.00001
|
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)
|
rs151208148
|
0.00001
|
NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe)
|
rs1054913532
|
0.00001
|
NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly)
|
rs777727985
|
0.00001
|
NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu)
|
rs377758736
|
0.00001
|
NM_006158.5(NEFL):c.1578G>A (p.Glu526=)
|
rs759816126
|
0.00001
|
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe)
|
rs749130357
|
0.00001
|
NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp)
|
rs769793484
|
0.00001
|
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)
|
rs779888473
|
0.00001
|
NM_006158.5(NEFL):c.216C>A (p.Asp72Glu)
|
rs1411798677
|
0.00001
|
NM_006158.5(NEFL):c.217C>G (p.Leu73Val)
|
rs755889503
|
0.00001
|
NM_006158.5(NEFL):c.219G>A (p.Leu73=)
|
rs1321286875
|
0.00001
|
NM_006158.5(NEFL):c.231C>G (p.Ala77=)
|
rs897017935
|
0.00001
|
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
|
rs765260132
|
0.00001
|
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp)
|
rs767370918
|
0.00001
|
NM_006158.5(NEFL):c.36C>T (p.Thr12=)
|
rs773399177
|
0.00001
|
NM_006158.5(NEFL):c.372G>A (p.Val124=)
|
rs1433367736
|
0.00001
|
NM_006158.5(NEFL):c.390C>G (p.Ser130=)
|
rs1430281104
|
0.00001
|
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys)
|
rs121913663
|
0.00001
|
NM_006158.5(NEFL):c.436C>T (p.Leu146=)
|
rs772789963
|
0.00001
|
NM_006158.5(NEFL):c.487G>A (p.Glu163Lys)
|
rs876661155
|
0.00001
|
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly)
|
rs752771636
|
0.00001
|
NM_006158.5(NEFL):c.530G>T (p.Arg177Leu)
|
rs1450236716
|
0.00001
|
NM_006158.5(NEFL):c.597C>T (p.Ala199=)
|
rs1423856572
|
0.00001
|
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
|
rs370031604
|
0.00001
|
NM_006158.5(NEFL):c.621C>T (p.Ala207=)
|
rs763294014
|
0.00001
|
NM_006158.5(NEFL):c.637A>G (p.Ile213Val)
|
rs538481538
|
0.00001
|
NM_006158.5(NEFL):c.63G>T (p.Thr21=)
|
rs1246523840
|
0.00001
|
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe)
|
rs35575466
|
0.00001
|
NM_006158.5(NEFL):c.690G>C (p.Glu230Asp)
|
rs750224223
|
0.00001
|
NM_006158.5(NEFL):c.720C>T (p.Tyr240=)
|
rs58975336
|
0.00001
|
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr)
|
rs1415523458
|
0.00001
|
NM_006158.5(NEFL):c.777G>A (p.Lys259=)
|
rs369644605
|
0.00001
|
NM_006158.5(NEFL):c.780C>T (p.Asp260=)
|
rs878854817
|
0.00001
|
NM_006158.5(NEFL):c.808G>T (p.Ala270Ser)
|
rs749160052
|
0.00001
|
NM_006158.5(NEFL):c.816C>T (p.Asn272=)
|
rs373809857
|
0.00001
|
NM_006158.5(NEFL):c.856G>T (p.Val286Leu)
|
rs902640009
|
0.00001
|
NM_006158.5(NEFL):c.873C>T (p.Ala291=)
|
rs1466451392
|
0.00001
|
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser)
|
rs761264386
|
0.00001
|
NM_006158.5(NEFL):c.891C>T (p.Ala297=)
|
rs376560820
|
0.00001
|
NM_006158.5(NEFL):c.936C>T (p.Leu312=)
|
rs371515323
|
0.00001
|
NM_006158.5(NEFL):c.945G>A (p.Lys315=)
|
rs779559532
|
0.00001
|
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)
|
rs762887808
|
0.00001
|
NM_014365.3(HSPB8):c.116C>T (p.Pro39Leu)
|
rs771827550
|
0.00001
|
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys)
|
rs1183371665
|
0.00001
|
NM_014365.3(HSPB8):c.174C>T (p.Ser58=)
|
rs56046128
|
0.00001
|
NM_014365.3(HSPB8):c.17T>C (p.Met6Thr)
|
rs530083542
|
0.00001
|
NM_014365.3(HSPB8):c.198G>A (p.Ser66=)
|
rs1041884451
|
0.00001
|
NM_014365.3(HSPB8):c.200G>T (p.Gly67Val)
|
rs771852827
|
0.00001
|
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser)
|
rs924785682
|
0.00001
|
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp)
|
rs977617023
|
0.00001
|
NM_014365.3(HSPB8):c.212G>A (p.Arg71Gln)
|
rs1312255584
|
0.00001
|
NM_014365.3(HSPB8):c.249C>T (p.Ala83=)
|
rs1173959362
|
0.00001
|
NM_014365.3(HSPB8):c.250G>A (p.Glu84Lys)
|
rs757293016
|
0.00001
|
NM_014365.3(HSPB8):c.264C>A (p.Pro88=)
|
rs746791744
|
0.00001
|
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys)
|
rs769296712
|
0.00001
|
NM_014365.3(HSPB8):c.309C>T (p.His103=)
|
rs1401613594
|
0.00001
|
NM_014365.3(HSPB8):c.367+18G>A
|
rs894486848
|
0.00001
|
NM_014365.3(HSPB8):c.375T>C (p.His125=)
|
rs923916572
|
0.00001
|
NM_014365.3(HSPB8):c.397G>A (p.Gly133Ser)
|
rs1179250162
|
0.00001
|
NM_014365.3(HSPB8):c.44G>A (p.Arg15His)
|
rs752348447
|
0.00001
|
NM_014365.3(HSPB8):c.479C>T (p.Pro160Leu)
|
rs1403551142
|
0.00001
|
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg)
|
rs1256697965
|
0.00001
|
NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys)
|
rs200120006
|
0.00001
|
NM_014365.3(HSPB8):c.52C>T (p.Arg18Ter)
|
rs759005659
|
0.00001
|
NM_014365.3(HSPB8):c.536A>G (p.Glu179Gly)
|
rs863224767
|
0.00001
|
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr)
|
rs778223243
|
0.00001
|
NM_014365.3(HSPB8):c.88C>T (p.Leu30=)
|
rs1954620683
|
0.00001
|
NM_014845.6(FIG4):c.1039+3G>A
|
rs760007124
|
0.00001
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.1051G>C (p.Asp351His)
|
rs879253941
|
0.00001
|
NM_014845.6(FIG4):c.1064A>G (p.His355Arg)
|
rs772356514
|
0.00001
|
NM_014845.6(FIG4):c.110G>A (p.Arg37His)
|
rs192324110
|
0.00001
|
NM_014845.6(FIG4):c.1116C>T (p.Ile372=)
|
rs754932535
|
0.00001
|
NM_014845.6(FIG4):c.1137+14A>G
|
rs1776398818
|
0.00001
|
NM_014845.6(FIG4):c.1137+5G>T
|
rs746766125
|
0.00001
|
NM_014845.6(FIG4):c.114C>T (p.Val38=)
|
rs765676819
|
0.00001
|
NM_014845.6(FIG4):c.1165A>G (p.Ile389Val)
|
rs765216035
|
0.00001
|
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
|
rs373630745
|
0.00001
|
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
|
rs1775389277
|
0.00001
|
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala)
|
rs142463699
|
0.00001
|
NM_014845.6(FIG4):c.125A>G (p.Asp42Gly)
|
rs780739049
|
0.00001
|
NM_014845.6(FIG4):c.1271+7G>A
|
rs1158557424
|
0.00001
|
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
|
rs1255518113
|
0.00001
|
NM_014845.6(FIG4):c.1338C>G (p.Phe446Leu)
|
rs1353768172
|
0.00001
|
NM_014845.6(FIG4):c.1350C>G (p.Arg450=)
|
rs763035100
|
0.00001
|
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp)
|
rs1220742669
|
0.00001
|
NM_014845.6(FIG4):c.1388+1G>A
|
rs754338522
|
0.00001
|
NM_014845.6(FIG4):c.1389-4A>G
|
rs1234617040
|
0.00001
|
NM_014845.6(FIG4):c.1389-5C>T
|
rs377752443
|
0.00001
|
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu)
|
rs1331703765
|
0.00001
|
NM_014845.6(FIG4):c.1434+16C>T
|
rs772128948
|
0.00001
|
NM_014845.6(FIG4):c.1434+7A>C
|
rs773157476
|
0.00001
|
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
|
rs1430381590
|
0.00001
|
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)
|
rs1228223508
|
0.00001
|
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu)
|
rs748473120
|
0.00001
|
NM_014845.6(FIG4):c.1525C>T (p.Leu509=)
|
rs146488614
|
0.00001
|
NM_014845.6(FIG4):c.1527G>A (p.Leu509=)
|
rs1282869999
|
0.00001
|
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp)
|
rs374129146
|
0.00001
|
NM_014845.6(FIG4):c.155T>C (p.Ile52Thr)
|
rs754533235
|
0.00001
|
NM_014845.6(FIG4):c.1584-16G>A
|
rs1223371250
|
0.00001
|
NM_014845.6(FIG4):c.1584-9T>C
|
rs748433013
|
0.00001
|
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)
|
rs776090013
|
0.00001
|
NM_014845.6(FIG4):c.1750+11A>C
|
rs766372971
|
0.00001
|
NM_014845.6(FIG4):c.1750+3A>G
|
rs758390500
|
0.00001
|
NM_014845.6(FIG4):c.1755C>T (p.Ala585=)
|
rs377111248
|
0.00001
|
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063
|
0.00001
|
NM_014845.6(FIG4):c.180A>G (p.Gln60=)
|
rs376730932
|
0.00001
|
NM_014845.6(FIG4):c.1812A>G (p.Lys604=)
|
rs1399930708
|
0.00001
|
NM_014845.6(FIG4):c.1827G>A (p.Glu609=)
|
rs756085095
|
0.00001
|
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala)
|
rs758695444
|
0.00001
|
NM_014845.6(FIG4):c.1836A>G (p.Thr612=)
|
rs1267198458
|
0.00001
|
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly)
|
rs1243225247
|
0.00001
|
NM_014845.6(FIG4):c.1890-18T>A
|
rs769375338
|
0.00001
|
NM_014845.6(FIG4):c.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
|
rs1490935299
|
0.00001
|
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)
|
rs774499394
|
0.00001
|
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
rs745860370
|
0.00001
|
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln)
|
rs192447225
|
0.00001
|
NM_014845.6(FIG4):c.2042A>G (p.Tyr681Cys)
|
rs554382573
|
0.00001
|
NM_014845.6(FIG4):c.2069T>C (p.Phe690Ser)
|
rs1237449502
|
0.00001
|
NM_014845.6(FIG4):c.2085A>C (p.Thr695=)
|
rs1197412787
|
0.00001
|
NM_014845.6(FIG4):c.2096+16T>A
|
rs779641739
|
0.00001
|
NM_014845.6(FIG4):c.2115C>T (p.Thr705=)
|
rs201271644
|
0.00001
|
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile)
|
rs754830354
|
0.00001
|
NM_014845.6(FIG4):c.2118T>G (p.Val706=)
|
rs780930471
|
0.00001
|
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)
|
rs774799167
|
0.00001
|
NM_014845.6(FIG4):c.2215C>A (p.Arg739=)
|
rs773877685
|
0.00001
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
rs1274229885
|
0.00001
|
NM_014845.6(FIG4):c.2238G>A (p.Pro746=)
|
rs753867543
|
0.00001
|
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu)
|
rs1266127215
|
0.00001
|
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
|
rs751694228
|
0.00001
|
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp)
|
rs375960403
|
0.00001
|
NM_014845.6(FIG4):c.2289G>A (p.Gly763=)
|
rs756539176
|
0.00001
|
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)
|
rs552937585
|
0.00001
|
NM_014845.6(FIG4):c.2308G>A (p.Gly770Ser)
|
rs779329699
|
0.00001
|
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
|
rs745397940
|
0.00001
|
NM_014845.6(FIG4):c.2334C>T (p.Pro778=)
|
rs1183428109
|
0.00001
|
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg)
|
rs373590484
|
0.00001
|
NM_014845.6(FIG4):c.2382G>A (p.Val794=)
|
rs1201567620
|
0.00001
|
NM_014845.6(FIG4):c.2403A>G (p.Leu801=)
|
rs1048137431
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg)
|
rs774546266
|
0.00001
|
NM_014845.6(FIG4):c.2459+6_2459+8dup
|
rs1562687535
|
0.00001
|
NM_014845.6(FIG4):c.2460-17T>C
|
rs201533992
|
0.00001
|
NM_014845.6(FIG4):c.2460-2A>G
|
rs1458183004
|
0.00001
|
NM_014845.6(FIG4):c.2464G>C (p.Val822Leu)
|
rs1208125100
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.2469G>T (p.Gln823His)
|
rs768773104
|
0.00001
|
NM_014845.6(FIG4):c.2470C>T (p.Leu824=)
|
rs1290598433
|
0.00001
|
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
|
rs768384237
|
0.00001
|
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
|
rs532895784
|
0.00001
|
NM_014845.6(FIG4):c.2546+11G>T
|
rs1051662160
|
0.00001
|
NM_014845.6(FIG4):c.2547-12C>T
|
rs778747845
|
0.00001
|
NM_014845.6(FIG4):c.2547-1G>A
|
rs769858739
|
0.00001
|
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu)
|
rs774805375
|
0.00001
|
NM_014845.6(FIG4):c.2617A>C (p.Thr873Pro)
|
rs199765196
|
0.00001
|
NM_014845.6(FIG4):c.2640C>T (p.Ile880=)
|
rs769813337
|
0.00001
|
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val)
|
rs550030053
|
0.00001
|
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr)
|
rs780643086
|
0.00001
|
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys)
|
rs776236607
|
0.00001
|
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter)
|
rs750069994
|
0.00001
|
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys)
|
rs754970037
|
0.00001
|
NM_014845.6(FIG4):c.289+10C>A
|
rs778732368
|
0.00001
|
NM_014845.6(FIG4):c.300G>A (p.Arg100=)
|
rs368831195
|
0.00001
|
NM_014845.6(FIG4):c.318T>C (p.Tyr106=)
|
rs1417300017
|
0.00001
|
NM_014845.6(FIG4):c.324G>C (p.Val108=)
|
rs1371576818
|
0.00001
|
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly)
|
rs771093157
|
0.00001
|
NM_014845.6(FIG4):c.374A>G (p.Tyr125Cys)
|
rs145466148
|
0.00001
|
NM_014845.6(FIG4):c.396G>A (p.Met132Ile)
|
rs1775847696
|
0.00001
|
NM_014845.6(FIG4):c.477A>G (p.Leu159=)
|
rs769256280
|
0.00001
|
NM_014845.6(FIG4):c.497+14T>G
|
rs756070677
|
0.00001
|
NM_014845.6(FIG4):c.521C>T (p.Ser174Leu)
|
rs775391378
|
0.00001
|
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
|
rs1774396046
|
0.00001
|
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)
|
rs760575768
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln)
|
rs781588508
|
0.00001
|
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
|
rs370115339
|
0.00001
|
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys)
|
rs770528195
|
0.00001
|
NM_014845.6(FIG4):c.641G>A (p.Gly214Glu)
|
rs1776128339
|
0.00001
|
NM_014845.6(FIG4):c.66+18G>A
|
rs1381893795
|
0.00001
|
NM_014845.6(FIG4):c.685G>A (p.Val229Ile)
|
rs779593250
|
0.00001
|
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr)
|
rs1776227536
|
0.00001
|
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr)
|
rs1045259801
|
0.00001
|
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys)
|
rs370148297
|
0.00001
|
NM_014845.6(FIG4):c.80T>C (p.Val27Ala)
|
rs769687105
|
0.00001
|
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe)
|
rs1311885951
|
0.00001
|
NM_014845.6(FIG4):c.876+8G>A
|
rs923581334
|
0.00001
|
NM_014845.6(FIG4):c.877-8C>G
|
rs1279902930
|
0.00001
|
NM_014845.6(FIG4):c.885T>A (p.Val295=)
|
rs551491783
|
0.00001
|
NM_014845.6(FIG4):c.909A>G (p.Gln303=)
|
rs1173352807
|
0.00001
|
NM_014845.6(FIG4):c.915C>G (p.Leu305=)
|
rs375022448
|
0.00001
|
NM_014874.4(MFN2):c.1039-20C>T
|
rs1253046105
|
0.00001
|
NM_014874.4(MFN2):c.1064A>G (p.Lys355Arg)
|
rs143747551
|
0.00001
|
NM_014874.4(MFN2):c.1086G>A (p.Thr362=)
|
rs749652300
|
0.00001
|
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln)
|
rs142042485
|
0.00001
|
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val)
|
rs201165591
|
0.00001
|
NM_014874.4(MFN2):c.1161-7C>T
|
rs1414918598
|
0.00001
|
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile)
|
rs924011766
|
0.00001
|
NM_014874.4(MFN2):c.1170C>T (p.Cys390=)
|
rs1639292680
|
0.00001
|
NM_014874.4(MFN2):c.117C>A (p.Ile39=)
|
rs1288073943
|
0.00001
|
NM_014874.4(MFN2):c.1189C>T (p.Arg397Trp)
|
rs758948968
|
0.00001
|
NM_014874.4(MFN2):c.1190G>A (p.Arg397Gln)
|
rs778219078
|
0.00001
|
NM_014874.4(MFN2):c.1191G>A (p.Arg397=)
|
rs758952131
|
0.00001
|
NM_014874.4(MFN2):c.1202T>G (p.Leu401Arg)
|
rs1161492440
|
0.00001
|
NM_014874.4(MFN2):c.1208T>G (p.Phe403Cys)
|
rs769905428
|
0.00001
|
NM_014874.4(MFN2):c.120T>C (p.Asn40=)
|
rs756467977
|
0.00001
|
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)
|
rs766998571
|
0.00001
|
NM_014874.4(MFN2):c.1267A>G (p.Thr423Ala)
|
rs765921889
|
0.00001
|
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)
|
rs764374251
|
0.00001
|
NM_014874.4(MFN2):c.1293G>T (p.Ser431=)
|
rs751915674
|
0.00001
|
NM_014874.4(MFN2):c.1304C>G (p.Ala435Gly)
|
rs1030984908
|
0.00001
|
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys)
|
rs756110507
|
0.00001
|
NM_014874.4(MFN2):c.1338C>T (p.Asp446=)
|
rs376300393
|
0.00001
|
NM_014874.4(MFN2):c.1367C>T (p.Pro456Leu)
|
rs78658090
|
0.00001
|
NM_014874.4(MFN2):c.1374C>G (p.Val458=)
|
rs760253679
|
0.00001
|
NM_014874.4(MFN2):c.1393-14T>A
|
rs779242620
|
0.00001
|
NM_014874.4(MFN2):c.1413G>A (p.Glu471=)
|
rs745360979
|
0.00001
|
NM_014874.4(MFN2):c.1424G>A (p.Gly475Asp)
|
rs774967287
|
0.00001
|
NM_014874.4(MFN2):c.1432A>G (p.Met478Val)
|
rs953946892
|
0.00001
|
NM_014874.4(MFN2):c.1441C>T (p.Arg481Cys)
|
rs762264240
|
0.00001
|
NM_014874.4(MFN2):c.1442G>A (p.Arg481His)
|
rs767718891
|
0.00001
|
NM_014874.4(MFN2):c.1453G>A (p.Ala485Thr)
|
rs1320374657
|
0.00001
|
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val)
|
rs755657087
|
0.00001
|
NM_014874.4(MFN2):c.1556G>A (p.Arg519His)
|
rs373809750
|
0.00001
|
NM_014874.4(MFN2):c.1564T>C (p.Phe522Leu)
|
rs747397065
|
0.00001
|
NM_014874.4(MFN2):c.1605T>C (p.Ala535=)
|
rs575884069
|
0.00001
|
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser)
|
rs776423551
|
0.00001
|
NM_014874.4(MFN2):c.1675C>T (p.Pro559Ser)
|
rs1369308807
|
0.00001
|
NM_014874.4(MFN2):c.1679A>G (p.Lys560Arg)
|
rs754458177
|
0.00001
|
NM_014874.4(MFN2):c.1687C>T (p.Arg563Cys)
|
rs747733583
|
0.00001
|
NM_014874.4(MFN2):c.1688G>A (p.Arg563His)
|
rs771845093
|
0.00001
|
NM_014874.4(MFN2):c.1691G>A (p.Arg564Gln)
|
rs746213217
|
0.00001
|
NM_014874.4(MFN2):c.1701G>A (p.Met567Ile)
|
rs776026191
|
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.1717-17C>T
|
rs765243288
|
0.00001
|
NM_014874.4(MFN2):c.1724G>A (p.Arg575His)
|
rs564375950
|
0.00001
|
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val)
|
rs749606728
|
0.00001
|
NM_014874.4(MFN2):c.175+12C>A
|
rs186824858
|
0.00001
|
NM_014874.4(MFN2):c.1750C>A (p.Pro584Thr)
|
rs773308500
|
0.00001
|
NM_014874.4(MFN2):c.175G>T (p.Asp59Tyr)
|
rs1311434220
|
0.00001
|
NM_014874.4(MFN2):c.176-4C>T
|
rs546254672
|
0.00001
|
NM_014874.4(MFN2):c.1770A>G (p.Pro590=)
|
rs776537176
|
0.00001
|
NM_014874.4(MFN2):c.1778C>T (p.Ser593Leu)
|
rs759372833
|
0.00001
|
NM_014874.4(MFN2):c.1782C>T (p.Leu594=)
|
rs950932066
|
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.1822G>A (p.Ala608Thr)
|
rs1639431440
|
0.00001
|
NM_014874.4(MFN2):c.1824C>T (p.Ala608=)
|
rs774988978
|
0.00001
|
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile)
|
rs200936779
|
0.00001
|
NM_014874.4(MFN2):c.1872+20C>T
|
rs549245117
|
0.00001
|
NM_014874.4(MFN2):c.1873-14C>G
|
rs770138133
|
0.00001
|
NM_014874.4(MFN2):c.1908C>G (p.Leu636=)
|
rs540183905
|
0.00001
|
NM_014874.4(MFN2):c.1909T>A (p.Ser637Thr)
|
rs763185826
|
0.00001
|
NM_014874.4(MFN2):c.190G>A (p.Ala64Thr)
|
rs922058129
|
0.00001
|
NM_014874.4(MFN2):c.1922A>G (p.Tyr641Cys)
|
rs866276988
|
0.00001
|
NM_014874.4(MFN2):c.1946G>A (p.Arg649His)
|
rs763492075
|
0.00001
|
NM_014874.4(MFN2):c.1951A>G (p.Thr651Ala)
|
rs772756022
|
0.00001
|
NM_014874.4(MFN2):c.1971G>A (p.Lys657=)
|
rs764308150
|
0.00001
|
NM_014874.4(MFN2):c.1978G>A (p.Ala660Thr)
|
rs762292163
|
0.00001
|
NM_014874.4(MFN2):c.1979C>A (p.Ala660Asp)
|
rs377090439
|
0.00001
|
NM_014874.4(MFN2):c.1981T>C (p.Phe661Leu)
|
rs1204925465
|
0.00001
|
NM_014874.4(MFN2):c.1986G>A (p.Lys662=)
|
rs1260208756
|
0.00001
|
NM_014874.4(MFN2):c.1995T>G (p.Phe665Leu)
|
rs755219120
|
0.00001
|
NM_014874.4(MFN2):c.2016G>A (p.Lys672=)
|
rs187058104
|
0.00001
|
NM_014874.4(MFN2):c.2020C>A (p.Gln674Lys)
|
rs770361817
|
0.00001
|
NM_014874.4(MFN2):c.2021A>C (p.Gln674Pro)
|
rs1410698026
|
0.00001
|
NM_014874.4(MFN2):c.2048A>G (p.Asn683Ser)
|
rs762213417
|
0.00001
|
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)
|
rs28940296
|
0.00001
|
NM_014874.4(MFN2):c.2060A>G (p.Gln687Arg)
|
rs879253910
|
0.00001
|
NM_014874.4(MFN2):c.2069+10C>T
|
rs1243140256
|
0.00001
|
NM_014874.4(MFN2):c.2069+9C>T
|
rs760838540
|
0.00001
|
NM_014874.4(MFN2):c.2147C>T (p.Ala716Val)
|
rs771589792
|
0.00001
|
NM_014874.4(MFN2):c.2158A>G (p.Lys720Glu)
|
rs1450205264
|
0.00001
|
NM_014874.4(MFN2):c.2160A>G (p.Lys720=)
|
rs769855660
|
0.00001
|
NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr)
|
rs150946795
|
0.00001
|
NM_014874.4(MFN2):c.2185A>G (p.Ser729Gly)
|
rs1274191966
|
0.00001
|
NM_014874.4(MFN2):c.2204+10G>T
|
rs1445631790
|
0.00001
|
NM_014874.4(MFN2):c.2204+13C>T
|
rs200441797
|
0.00001
|
NM_014874.4(MFN2):c.2221T>G (p.Leu741Val)
|
rs1060501917
|
0.00001
|
NM_014874.4(MFN2):c.2253G>A (p.Gln751=)
|
rs948203067
|
0.00001
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
0.00001
|
NM_014874.4(MFN2):c.227T>G (p.Leu76Arg)
|
rs28940293
|
0.00001
|
NM_014874.4(MFN2):c.232G>A (p.Val78Ile)
|
rs764695837
|
0.00001
|
NM_014874.4(MFN2):c.236A>G (p.Lys79Arg)
|
rs1262941514
|
0.00001
|
NM_014874.4(MFN2):c.311+8C>T
|
rs747730092
|
0.00001
|
NM_014874.4(MFN2):c.312-19A>G
|
rs756393202
|
0.00001
|
NM_014874.4(MFN2):c.315G>A (p.Thr105=)
|
rs75138257
|
0.00001
|
NM_014874.4(MFN2):c.31A>G (p.Ile11Val)
|
rs763735861
|
0.00001
|
NM_014874.4(MFN2):c.32T>C (p.Ile11Thr)
|
rs777625403
|
0.00001
|
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr)
|
rs1569830013
|
0.00001
|
NM_014874.4(MFN2):c.404G>A (p.Arg135Gln)
|
rs1443036026
|
0.00001
|
NM_014874.4(MFN2):c.415A>G (p.Thr139Ala)
|
rs1349977366
|
0.00001
|
NM_014874.4(MFN2):c.46A>C (p.Lys16Gln)
|
rs748233037
|
0.00001
|
NM_014874.4(MFN2):c.49A>G (p.Asn17Asp)
|
rs772477199
|
0.00001
|
NM_014874.4(MFN2):c.525C>T (p.Ala175=)
|
rs751505990
|
0.00001
|
NM_014874.4(MFN2):c.541G>A (p.Val181Met)
|
rs863224064
|
0.00001
|
NM_014874.4(MFN2):c.558T>C (p.Ser186=)
|
rs1280915201
|
0.00001
|
NM_014874.4(MFN2):c.558dup (p.Lys187Ter)
|
rs772732232
|
0.00001
|
NM_014874.4(MFN2):c.582C>T (p.Asp194=)
|
rs772441576
|
0.00001
|
NM_014874.4(MFN2):c.585C>T (p.Leu195=)
|
rs200719689
|
0.00001
|
NM_014874.4(MFN2):c.600-7C>T
|
rs1173229373
|
0.00001
|
NM_014874.4(MFN2):c.608T>C (p.Ile203Thr)
|
rs200715905
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
0.00001
|
NM_014874.4(MFN2):c.709-9T>C
|
rs776259256
|
0.00001
|
NM_014874.4(MFN2):c.725A>G (p.His242Arg)
|
rs863224065
|
0.00001
|
NM_014874.4(MFN2):c.739C>T (p.Arg247Cys)
|
rs369948853
|
0.00001
|
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)
|
rs373107074
|
0.00001
|
NM_014874.4(MFN2):c.776G>A (p.Arg259His)
|
rs755065651
|
0.00001
|
NM_014874.4(MFN2):c.78A>G (p.Ala26=)
|
rs764662159
|
0.00001
|
NM_014874.4(MFN2):c.801C>T (p.Pro267=)
|
rs201550384
|
0.00001
|
NM_014874.4(MFN2):c.816+4C>T
|
rs374018931
|
0.00001
|
NM_014874.4(MFN2):c.817-7G>A
|
rs769298272
|
0.00001
|
NM_014874.4(MFN2):c.820C>T (p.Arg274Trp)
|
rs762440627
|
0.00001
|
NM_014874.4(MFN2):c.84A>C (p.Pro28=)
|
rs554067157
|
0.00001
|
NM_014874.4(MFN2):c.852C>T (p.Phe284=)
|
rs1420158447
|
0.00001
|
NM_014874.4(MFN2):c.899G>A (p.Arg300His)
|
rs1226075443
|
0.00001
|
NM_014874.4(MFN2):c.932A>G (p.Asn311Ser)
|
rs748838916
|
0.00001
|
NM_014874.4(MFN2):c.945G>A (p.Gln315=)
|
rs1569852176
|
0.00001
|
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
|
rs1424551887
|
0.00001
|
NM_014874.4(MFN2):c.963T>G (p.Pro321=)
|
rs1464024708
|
0.00001
|
NM_014874.4(MFN2):c.977C>T (p.Ala326Val)
|
rs778350613
|
0.00001
|
NM_014874.4(MFN2):c.982G>A (p.Ala328Thr)
|
rs771900151
|
0.00001
|
NM_015271.5(TRIM2):c.1028G>C (p.Gly343Ala)
|
rs1488492161
|
0.00001
|
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser)
|
rs752113810
|
0.00001
|
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met)
|
rs756377335
|
0.00001
|
NM_015271.5(TRIM2):c.1093A>C (p.Thr365Pro)
|
rs1231802080
|
0.00001
|
NM_015271.5(TRIM2):c.1113G>A (p.Met371Ile)
|
rs761644850
|
0.00001
|
NM_015271.5(TRIM2):c.1166A>G (p.Asn389Ser)
|
rs1393756687
|
0.00001
|
NM_015271.5(TRIM2):c.1167C>T (p.Asn389=)
|
rs778071561
|
0.00001
|
NM_015271.5(TRIM2):c.1180G>A (p.Ala394Thr)
|
rs745973166
|
0.00001
|
NM_015271.5(TRIM2):c.119T>C (p.Val40Ala)
|
rs773535787
|
0.00001
|
NM_015271.5(TRIM2):c.1239C>T (p.Asn413=)
|
rs202177942
|
0.00001
|
NM_015271.5(TRIM2):c.1320A>G (p.Arg440=)
|
rs750466896
|
0.00001
|
NM_015271.5(TRIM2):c.1329G>A (p.Pro443=)
|
rs781042864
|
0.00001
|
NM_015271.5(TRIM2):c.1348C>T (p.Arg450Ter)
|
rs374278756
|
0.00001
|
NM_015271.5(TRIM2):c.1391G>A (p.Arg464His)
|
rs1235210272
|
0.00001
|
NM_015271.5(TRIM2):c.1411G>A (p.Gly471Ser)
|
rs147042335
|
0.00001
|
NM_015271.5(TRIM2):c.1434G>T (p.Val478=)
|
rs751706975
|
0.00001
|
NM_015271.5(TRIM2):c.1446A>G (p.Ala482=)
|
rs1373857269
|
0.00001
|
NM_015271.5(TRIM2):c.1451T>A (p.Met484Lys)
|
rs1470965446
|
0.00001
|
NM_015271.5(TRIM2):c.1491C>T (p.Asp497=)
|
rs746564907
|
0.00001
|
NM_015271.5(TRIM2):c.1510+9A>T
|
rs1279174333
|
0.00001
|
NM_015271.5(TRIM2):c.1511-11A>G
|
rs377614448
|
0.00001
|
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=)
|
rs773419235
|
0.00001
|
NM_015271.5(TRIM2):c.1609G>A (p.Val537Met)
|
rs1324448372
|
0.00001
|
NM_015271.5(TRIM2):c.1615A>T (p.Ile539Leu)
|
rs113767540
|
0.00001
|
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser)
|
rs374300347
|
0.00001
|
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His)
|
rs1579646798
|
0.00001
|
NM_015271.5(TRIM2):c.1656A>G (p.Ile552Met)
|
rs767256297
|
0.00001
|
NM_015271.5(TRIM2):c.166C>T (p.Arg56Trp)
|
rs980047319
|
0.00001
|
NM_015271.5(TRIM2):c.1670C>T (p.Pro557Leu)
|
rs778099061
|
0.00001
|
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu)
|
rs1305793582
|
0.00001
|
NM_015271.5(TRIM2):c.1680G>A (p.Leu560=)
|
rs115278632
|
0.00001
|
NM_015271.5(TRIM2):c.1698G>A (p.Val566=)
|
rs747022098
|
0.00001
|
NM_015271.5(TRIM2):c.1783-10T>C
|
rs1448725164
|
0.00001
|
NM_015271.5(TRIM2):c.1831G>A (p.Asp611Asn)
|
rs371608836
|
0.00001
|
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His)
|
rs114415780
|
0.00001
|
NM_015271.5(TRIM2):c.1875C>T (p.Cys625=)
|
rs372665843
|
0.00001
|
NM_015271.5(TRIM2):c.189C>T (p.Leu63=)
|
rs558845725
|
0.00001
|
NM_015271.5(TRIM2):c.1910C>T (p.Thr637Ile)
|
rs1769292601
|
0.00001
|
NM_015271.5(TRIM2):c.1923C>T (p.Ser641=)
|
rs1579721568
|
0.00001
|
NM_015271.5(TRIM2):c.2022+19T>C
|
rs765231303
|
0.00001
|
NM_015271.5(TRIM2):c.2023-10T>C
|
rs1310667550
|
0.00001
|
NM_015271.5(TRIM2):c.2139C>T (p.Ala713=)
|
rs773958934
|
0.00001
|
NM_015271.5(TRIM2):c.2151C>T (p.Asn717=)
|
rs200941361
|
0.00001
|
NM_015271.5(TRIM2):c.2220C>G (p.Leu740=)
|
rs763024851
|
0.00001
|
NM_015271.5(TRIM2):c.2265G>A (p.Val755=)
|
rs1180600606
|
0.00001
|
NM_015271.5(TRIM2):c.2307C>T (p.Tyr769=)
|
rs1772276216
|
0.00001
|
NM_015271.5(TRIM2):c.282C>T (p.Ser94=)
|
rs1190110289
|
0.00001
|
NM_015271.5(TRIM2):c.291C>T (p.Pro97=)
|
rs370159648
|
0.00001
|
NM_015271.5(TRIM2):c.306C>T (p.Ala102=)
|
rs772795087
|
0.00001
|
NM_015271.5(TRIM2):c.345C>T (p.Asp115=)
|
rs536693739
|
0.00001
|
NM_015271.5(TRIM2):c.367A>T (p.Ser123Cys)
|
rs778183525
|
0.00001
|
NM_015271.5(TRIM2):c.372C>T (p.Asn124=)
|
rs374222449
|
0.00001
|
NM_015271.5(TRIM2):c.417G>A (p.Ala139=)
|
rs534011584
|
0.00001
|
NM_015271.5(TRIM2):c.450G>A (p.Gly150=)
|
rs116331959
|
0.00001
|
NM_015271.5(TRIM2):c.453+8G>A
|
rs764734635
|
0.00001
|
NM_015271.5(TRIM2):c.506C>T (p.Thr169Met)
|
rs762398531
|
0.00001
|
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe)
|
rs754986666
|
0.00001
|
NM_015271.5(TRIM2):c.568G>A (p.Ala190Thr)
|
rs1316458872
|
0.00001
|
NM_015271.5(TRIM2):c.583C>A (p.Gln195Lys)
|
rs745623327
|
0.00001
|
NM_015271.5(TRIM2):c.605+10C>A
|
rs891133657
|
0.00001
|
NM_015271.5(TRIM2):c.605+6G>A
|
rs776278913
|
0.00001
|
NM_015271.5(TRIM2):c.609C>T (p.Leu203=)
|
rs369532223
|
0.00001
|
NM_015271.5(TRIM2):c.648C>G (p.Ile216Met)
|
rs1352327505
|
0.00001
|
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser)
|
rs759938444
|
0.00001
|
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn)
|
rs143032564
|
0.00001
|
NM_015271.5(TRIM2):c.786+10G>A
|
rs1268924136
|
0.00001
|
NM_015271.5(TRIM2):c.786A>C (p.Lys262Asn)
|
rs746187978
|
0.00001
|
NM_015271.5(TRIM2):c.787-4G>T
|
rs779323461
|
0.00001
|
NM_015271.5(TRIM2):c.825G>A (p.Gln275=)
|
rs1348132011
|
0.00001
|
NM_015271.5(TRIM2):c.837G>A (p.Lys279=)
|
rs375609689
|
0.00001
|
NM_015271.5(TRIM2):c.878C>T (p.Thr293Met)
|
rs767633857
|
0.00001
|
NM_015271.5(TRIM2):c.916G>C (p.Glu306Gln)
|
rs750001904
|
0.00001
|
NM_015271.5(TRIM2):c.928G>A (p.Glu310Lys)
|
rs1214293124
|
0.00001
|
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu)
|
rs1279083060
|
0.00001
|
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
|
rs776757548
|
0.00001
|
NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln)
|
rs768976966
|
0.00001
|
NM_016156.6(MTMR2):c.1096C>G (p.Leu366Val)
|
rs925169921
|
0.00001
|
NM_016156.6(MTMR2):c.1121T>C (p.Ile374Thr)
|
rs114883605
|
0.00001
|
NM_016156.6(MTMR2):c.1179+7G>A
|
rs750955214
|
0.00001
|
NM_016156.6(MTMR2):c.1180-11C>T
|
rs1200941827
|
0.00001
|
NM_016156.6(MTMR2):c.1187T>C (p.Leu396Pro)
|
rs770852495
|
0.00001
|
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402
|
0.00001
|
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=)
|
rs199542109
|
0.00001
|
NM_016156.6(MTMR2):c.1312T>C (p.Tyr438His)
|
rs1360581554
|
0.00001
|
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter)
|
rs751677491
|
0.00001
|
NM_016156.6(MTMR2):c.1319G>A (p.Arg440Gln)
|
rs1383802560
|
0.00001
|
NM_016156.6(MTMR2):c.1328G>A (p.Arg443Gln)
|
rs1590978311
|
0.00001
|
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)
|
rs1177373744
|
0.00001
|
NM_016156.6(MTMR2):c.1386+8A>C
|
rs371105248
|
0.00001
|
NM_016156.6(MTMR2):c.1387-7G>A
|
rs1279840467
|
0.00001
|
NM_016156.6(MTMR2):c.1446A>G (p.Gln482=)
|
rs376166939
|
0.00001
|
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys)
|
rs1170327910
|
0.00001
|
NM_016156.6(MTMR2):c.1479+13G>A
|
rs968902751
|
0.00001
|
NM_016156.6(MTMR2):c.1480-20T>C
|
rs371041744
|
0.00001
|
NM_016156.6(MTMR2):c.1489G>A (p.Ala497Thr)
|
rs752626893
|
0.00001
|
NM_016156.6(MTMR2):c.1511T>C (p.Phe504Ser)
|
rs1221811087
|
0.00001
|
NM_016156.6(MTMR2):c.1536A>G (p.Leu512=)
|
rs1015773638
|
0.00001
|
NM_016156.6(MTMR2):c.1594-9T>G
|
rs774704606
|
0.00001
|
NM_016156.6(MTMR2):c.1618C>T (p.Leu540=)
|
rs142687077
|
0.00001
|
NM_016156.6(MTMR2):c.1630A>G (p.Ile544Val)
|
rs781368440
|
0.00001
|
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu)
|
rs750110066
|
0.00001
|
NM_016156.6(MTMR2):c.1770G>A (p.Gln590=)
|
rs778532655
|
0.00001
|
NM_016156.6(MTMR2):c.186+16T>C
|
rs1325405868
|
0.00001
|
NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter)
|
rs923973985
|
0.00001
|
NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile)
|
rs1555056657
|
0.00001
|
NM_016156.6(MTMR2):c.197A>G (p.Glu66Gly)
|
rs756405288
|
0.00001
|
NM_016156.6(MTMR2):c.213A>G (p.Ala71=)
|
rs1402885565
|
0.00001
|
NM_016156.6(MTMR2):c.240A>C (p.Pro80=)
|
rs201920176
|
0.00001
|
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr)
|
rs757664332
|
0.00001
|
NM_016156.6(MTMR2):c.269A>T (p.Asp90Val)
|
rs147341114
|
0.00001
|
NM_016156.6(MTMR2):c.301G>A (p.Val101Ile)
|
rs1340382592
|
0.00001
|
NM_016156.6(MTMR2):c.309A>T (p.Gly103=)
|
rs114274243
|
0.00001
|
NM_016156.6(MTMR2):c.327T>G (p.Asn109Lys)
|
rs1322357085
|
0.00001
|
NM_016156.6(MTMR2):c.330T>C (p.Tyr110=)
|
rs777436469
|
0.00001
|
NM_016156.6(MTMR2):c.34T>A (p.Ser12Thr)
|
rs1867035083
|
0.00001
|
NM_016156.6(MTMR2):c.357+4A>C
|
rs863224750
|
0.00001
|
NM_016156.6(MTMR2):c.393G>C (p.Val131=)
|
rs757865509
|
0.00001
|
NM_016156.6(MTMR2):c.414T>C (p.Ile138=)
|
rs754358489
|
0.00001
|
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)
|
rs1864438088
|
0.00001
|
NM_016156.6(MTMR2):c.458C>G (p.Thr153Ser)
|
rs1864437012
|
0.00001
|
NM_016156.6(MTMR2):c.460G>A (p.Val154Met)
|
rs1464362553
|
0.00001
|
NM_016156.6(MTMR2):c.469-9C>A
|
rs779741464
|
0.00001
|
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr)
|
rs1286568485
|
0.00001
|
NM_016156.6(MTMR2):c.494A>C (p.His165Pro)
|
rs1360315392
|
0.00001
|
NM_016156.6(MTMR2):c.507G>A (p.Gly169=)
|
rs753188177
|
0.00001
|
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp)
|
rs1177699275
|
0.00001
|
NM_016156.6(MTMR2):c.567C>T (p.Asn189=)
|
rs1864293535
|
0.00001
|
NM_016156.6(MTMR2):c.572C>T (p.Pro191Leu)
|
rs1258314907
|
0.00001
|
NM_016156.6(MTMR2):c.626A>G (p.Tyr209Cys)
|
rs967619161
|
0.00001
|
NM_016156.6(MTMR2):c.654+13T>C
|
rs1170437168
|
0.00001
|
NM_016156.6(MTMR2):c.75G>A (p.Leu25=)
|
rs1376231939
|
0.00001
|
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe)
|
rs1295900396
|
0.00001
|
NM_016156.6(MTMR2):c.791G>A (p.Arg264Lys)
|
rs1590984978
|
0.00001
|
NM_016156.6(MTMR2):c.797G>A (p.Arg266His)
|
rs775237206
|
0.00001
|
NM_016156.6(MTMR2):c.805-9C>G
|
rs767328220
|
0.00001
|
NM_016156.6(MTMR2):c.81-4G>C
|
rs757563852
|
0.00001
|
NM_016156.6(MTMR2):c.81-7T>G
|
rs750842659
|
0.00001
|
NM_016156.6(MTMR2):c.829A>C (p.Ser277Arg)
|
rs779257949
|
0.00001
|
NM_016156.6(MTMR2):c.848G>A (p.Arg283Gln)
|
rs374629187
|
0.00001
|
NM_016156.6(MTMR2):c.884G>A (p.Arg295Gln)
|
rs777854770
|
0.00001
|
NM_016156.6(MTMR2):c.92C>T (p.Ser31Phe)
|
rs748872681
|
0.00001
|
NM_016156.6(MTMR2):c.984T>C (p.Val328=)
|
rs116691712
|
0.00001
|
NM_018972.4(GDAP1):c.102C>G (p.Ser34=)
|
rs7828201
|
0.00001
|
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg)
|
rs1448664085
|
0.00001
|
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr)
|
rs756121249
|
0.00001
|
NM_018972.4(GDAP1):c.120G>A (p.Val40=)
|
rs1031865271
|
0.00001
|
NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg)
|
rs960211384
|
0.00001
|
NM_018972.4(GDAP1):c.153C>T (p.Cys51=)
|
rs1413222465
|
0.00001
|
NM_018972.4(GDAP1):c.161A>G (p.His54Arg)
|
rs1441803924
|
0.00001
|
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)
|
rs769632836
|
0.00001
|
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu)
|
rs775739690
|
0.00001
|
NM_018972.4(GDAP1):c.216C>T (p.Asn72=)
|
rs760859999
|
0.00001
|
NM_018972.4(GDAP1):c.225A>G (p.Gly75=)
|
rs761890773
|
0.00001
|
NM_018972.4(GDAP1):c.311-15G>A
|
rs373622064
|
0.00001
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)
|
rs751986220
|
0.00001
|
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg)
|
rs1290008555
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn)
|
rs1279013936
|
0.00001
|
NM_018972.4(GDAP1):c.400G>T (p.Asp134Tyr)
|
rs1809295867
|
0.00001
|
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe)
|
rs1375032292
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
|
rs886293648
|
0.00001
|
NM_018972.4(GDAP1):c.484+4T>C
|
rs1318164702
|
0.00001
|
NM_018972.4(GDAP1):c.485-6T>C
|
rs763802909
|
0.00001
|
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro)
|
rs1362886530
|
0.00001
|
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
|
rs1475695228
|
0.00001
|
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)
|
rs779894269
|
0.00001
|
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln)
|
rs1085307665
|
0.00001
|
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly)
|
rs376868259
|
0.00001
|
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser)
|
rs878855054
|
0.00001
|
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu)
|
rs1443360585
|
0.00001
|
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr)
|
rs140384868
|
0.00001
|
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser)
|
rs1026680509
|
0.00001
|
NM_018972.4(GDAP1):c.695-9T>A
|
rs906225606
|
0.00001
|
NM_018972.4(GDAP1):c.70G>T (p.Val24Phe)
|
rs1406620213
|
0.00001
|
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg)
|
rs763963750
|
0.00001
|
NM_018972.4(GDAP1):c.745G>A (p.Val249Ile)
|
rs753181104
|
0.00001
|
NM_018972.4(GDAP1):c.753C>T (p.Leu251=)
|
rs1285748573
|
0.00001
|
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr)
|
rs778105019
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln)
|
rs1425323007
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_018972.4(GDAP1):c.846T>A (p.Arg282=)
|
rs751766713
|
0.00001
|
NM_018972.4(GDAP1):c.864A>G (p.Thr288=)
|
rs1452402318
|
0.00001
|
NM_018972.4(GDAP1):c.874G>A (p.Val292Ile)
|
rs767553697
|
0.00001
|
NM_018972.4(GDAP1):c.892A>C (p.Asn298His)
|
rs1470584902
|
0.00001
|
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser)
|
rs368055667
|
0.00001
|
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala)
|
rs1356175561
|
0.00001
|
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe)
|
rs879254196
|
0.00001
|
NM_020631.6(PLEKHG5):c.1020G>A (p.Ala340=)
|
rs562623276
|
0.00001
|
NM_020631.6(PLEKHG5):c.1041G>A (p.Thr347=)
|
rs779051638
|
0.00001
|
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val)
|
rs200802048
|
0.00001
|
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln)
|
rs61743372
|
0.00001
|
NM_020631.6(PLEKHG5):c.1068G>A (p.Arg356=)
|
rs1272202008
|
0.00001
|
NM_020631.6(PLEKHG5):c.1081-19C>T
|
rs1057524719
|
0.00001
|
NM_020631.6(PLEKHG5):c.1081-3C>T
|
rs772519809
|
0.00001
|
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg)
|
rs762368406
|
0.00001
|
NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn)
|
rs372434052
|
0.00001
|
NM_020631.6(PLEKHG5):c.1131+5G>T
|
rs1293986972
|
0.00001
|
NM_020631.6(PLEKHG5):c.1132-17C>T
|
rs1424401681
|
0.00001
|
NM_020631.6(PLEKHG5):c.1132-8G>T
|
rs1357497658
|
0.00001
|
NM_020631.6(PLEKHG5):c.1139C>T (p.Ala380Val)
|
rs374286001
|
0.00001
|
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly)
|
rs1327802744
|
0.00001
|
NM_020631.6(PLEKHG5):c.1152C>T (p.Phe384=)
|
rs775687640
|
0.00001
|
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly)
|
rs1644589733
|
0.00001
|
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg)
|
rs755513110
|
0.00001
|
NM_020631.6(PLEKHG5):c.1227G>C (p.Ala409=)
|
rs1004728643
|
0.00001
|
NM_020631.6(PLEKHG5):c.1230G>T (p.Arg410=)
|
rs775775743
|
0.00001
|
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys)
|
rs1271841187
|
0.00001
|
NM_020631.6(PLEKHG5):c.1243C>T (p.Leu415=)
|
rs771030645
|
0.00001
|
NM_020631.6(PLEKHG5):c.1264C>T (p.Leu422Phe)
|
rs779799130
|
0.00001
|
NM_020631.6(PLEKHG5):c.1267A>G (p.Lys423Glu)
|
rs1297083613
|
0.00001
|
NM_020631.6(PLEKHG5):c.1270G>A (p.Gly424Ser)
|
rs1366436495
|
0.00001
|
NM_020631.6(PLEKHG5):c.1286G>C (p.Gly429Ala)
|
rs1304686030
|
0.00001
|
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter)
|
rs1443592761
|
0.00001
|
NM_020631.6(PLEKHG5):c.1295T>C (p.Phe432Ser)
|
rs1384133118
|
0.00001
|
NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=)
|
rs772435791
|
0.00001
|
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys)
|
rs200086651
|
0.00001
|
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=)
|
rs776561735
|
0.00001
|
NM_020631.6(PLEKHG5):c.1391C>T (p.Thr464Met)
|
rs777612808
|
0.00001
|
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=)
|
rs1412619450
|
0.00001
|
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala)
|
rs1180280762
|
0.00001
|
NM_020631.6(PLEKHG5):c.1410A>G (p.Pro470=)
|
rs200406088
|
0.00001
|
NM_020631.6(PLEKHG5):c.1414T>G (p.Cys472Gly)
|
rs1382976948
|
0.00001
|
NM_020631.6(PLEKHG5):c.1428G>A (p.Lys476=)
|
rs1243221708
|
0.00001
|
NM_020631.6(PLEKHG5):c.1443G>A (p.Leu481=)
|
rs1175716993
|
0.00001
|
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg)
|
rs1242593815
|
0.00001
|
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs)
|
rs1266507622
|
0.00001
|
NM_020631.6(PLEKHG5):c.148G>C (p.Gly50Arg)
|
rs779791612
|
0.00001
|
NM_020631.6(PLEKHG5):c.1496T>G (p.Leu499Arg)
|
rs768323924
|
0.00001
|
NM_020631.6(PLEKHG5):c.150-11C>A
|
rs369136414
|
0.00001
|
NM_020631.6(PLEKHG5):c.150-13C>T
|
rs373087396
|
0.00001
|
NM_020631.6(PLEKHG5):c.1506C>T (p.Thr502=)
|
rs570632527
|
0.00001
|
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu)
|
rs770934745
|
0.00001
|
NM_020631.6(PLEKHG5):c.1524G>A (p.Lys508=)
|
rs777894074
|
0.00001
|
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp)
|
rs548243654
|
0.00001
|
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met)
|
rs377602965
|
0.00001
|
NM_020631.6(PLEKHG5):c.1558C>T (p.Arg520Cys)
|
rs999436825
|
0.00001
|
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln)
|
rs1022969911
|
0.00001
|
NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=)
|
rs1488054852
|
0.00001
|
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp)
|
rs774755047
|
0.00001
|
NM_020631.6(PLEKHG5):c.1596G>A (p.Arg532=)
|
rs777519794
|
0.00001
|
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln)
|
rs752167528
|
0.00001
|
NM_020631.6(PLEKHG5):c.1610G>A (p.Arg537Gln)
|
rs1322468026
|
0.00001
|
NM_020631.6(PLEKHG5):c.1647G>A (p.Glu549=)
|
rs770781624
|
0.00001
|
NM_020631.6(PLEKHG5):c.1681-3C>T
|
rs370601982
|
0.00001
|
NM_020631.6(PLEKHG5):c.168C>T (p.Gly56=)
|
rs1366828227
|
0.00001
|
NM_020631.6(PLEKHG5):c.1707C>T (p.Asp569=)
|
rs1033319065
|
0.00001
|
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys)
|
rs267598690
|
0.00001
|
NM_020631.6(PLEKHG5):c.1836G>A (p.Leu612=)
|
rs1026753861
|
0.00001
|
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys)
|
rs765998625
|
0.00001
|
NM_020631.6(PLEKHG5):c.1890C>T (p.Pro630=)
|
rs1280465351
|
0.00001
|
NM_020631.6(PLEKHG5):c.1929C>T (p.Asp643=)
|
rs1644505211
|
0.00001
|
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala)
|
rs781318885
|
0.00001
|
NM_020631.6(PLEKHG5):c.1933+17C>T
|
rs766391240
|
0.00001
|
NM_020631.6(PLEKHG5):c.1933+18C>T
|
rs369940156
|
0.00001
|
NM_020631.6(PLEKHG5):c.1933+4A>G
|
rs754759840
|
0.00001
|
NM_020631.6(PLEKHG5):c.1934-4C>G
|
rs951050550
|
0.00001
|
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala)
|
rs749072819
|
0.00001
|
NM_020631.6(PLEKHG5):c.1935G>A (p.Gly645=)
|
rs147140763
|
0.00001
|
NM_020631.6(PLEKHG5):c.1951T>G (p.Tyr651Asp)
|
rs1644501019
|
0.00001
|
NM_020631.6(PLEKHG5):c.1980G>A (p.Gly660=)
|
rs751242417
|
0.00001
|
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile)
|
rs779425195
|
0.00001
|
NM_020631.6(PLEKHG5):c.2042A>G (p.Asn681Ser)
|
rs936501984
|
0.00001
|
NM_020631.6(PLEKHG5):c.2049+10G>A
|
rs1478987550
|
0.00001
|
NM_020631.6(PLEKHG5):c.210+20C>T
|
rs777308688
|
0.00001
|
NM_020631.6(PLEKHG5):c.211-3C>T
|
rs754653668
|
0.00001
|
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)
|
rs910994587
|
0.00001
|
NM_020631.6(PLEKHG5):c.2142A>G (p.Glu714=)
|
rs750902394
|
0.00001
|
NM_020631.6(PLEKHG5):c.2235C>T (p.Pro745=)
|
rs1323858843
|
0.00001
|
NM_020631.6(PLEKHG5):c.2249+4C>T
|
rs751575330
|
0.00001
|
NM_020631.6(PLEKHG5):c.2250-13C>T
|
rs547780813
|
0.00001
|
NM_020631.6(PLEKHG5):c.2250-5C>T
|
rs746215440
|
0.00001
|
NM_020631.6(PLEKHG5):c.2268G>A (p.Thr756=)
|
rs757831916
|
0.00001
|
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met)
|
rs1000775772
|
0.00001
|
NM_020631.6(PLEKHG5):c.2316C>T (p.Ser772=)
|
rs1342219532
|
0.00001
|
NM_020631.6(PLEKHG5):c.2325C>T (p.Phe775=)
|
rs1644465541
|
0.00001
|
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His)
|
rs779969203
|
0.00001
|
NM_020631.6(PLEKHG5):c.2411C>T (p.Pro804Leu)
|
rs1400722803
|
0.00001
|
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser)
|
rs1175956588
|
0.00001
|
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu)
|
rs371547045
|
0.00001
|
NM_020631.6(PLEKHG5):c.2435C>T (p.Ser812Phe)
|
rs145009237
|
0.00001
|
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr)
|
rs771230935
|
0.00001
|
NM_020631.6(PLEKHG5):c.2506A>G (p.Met836Val)
|
rs752621606
|
0.00001
|
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu)
|
rs768995193
|
0.00001
|
NM_020631.6(PLEKHG5):c.2565G>A (p.Ser855=)
|
rs372308060
|
0.00001
|
NM_020631.6(PLEKHG5):c.2578C>T (p.Arg860Cys)
|
rs557256913
|
0.00001
|
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe)
|
rs756639742
|
0.00001
|
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn)
|
rs769702301
|
0.00001
|
NM_020631.6(PLEKHG5):c.2683C>G (p.Pro895Ala)
|
rs753662166
|
0.00001
|
NM_020631.6(PLEKHG5):c.2698C>T (p.Arg900Cys)
|
rs750132016
|
0.00001
|
NM_020631.6(PLEKHG5):c.2713C>T (p.Leu905Phe)
|
rs774696513
|
0.00001
|
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe)
|
rs993754184
|
0.00001
|
NM_020631.6(PLEKHG5):c.2728C>T (p.Pro910Ser)
|
rs1334075760
|
0.00001
|
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg)
|
rs1407992685
|
0.00001
|
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu)
|
rs1436307319
|
0.00001
|
NM_020631.6(PLEKHG5):c.2772G>A (p.Gly924=)
|
rs1644444867
|
0.00001
|
NM_020631.6(PLEKHG5):c.2796C>T (p.Ala932=)
|
rs1315817273
|
0.00001
|
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr)
|
rs1404826523
|
0.00001
|
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg)
|
rs755699992
|
0.00001
|
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=)
|
rs749891873
|
0.00001
|
NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val)
|
rs751158651
|
0.00001
|
NM_020631.6(PLEKHG5):c.2841G>A (p.Gly947=)
|
rs753283144
|
0.00001
|
NM_020631.6(PLEKHG5):c.2892C>G (p.Ala964=)
|
rs1388065890
|
0.00001
|
NM_020631.6(PLEKHG5):c.2916C>G (p.Pro972=)
|
rs923660925
|
0.00001
|
NM_020631.6(PLEKHG5):c.292A>G (p.Lys98Glu)
|
rs770771316
|
0.00001
|
NM_020631.6(PLEKHG5):c.2933C>T (p.Ala978Val)
|
rs150133974
|
0.00001
|
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=)
|
rs886046497
|
0.00001
|
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter)
|
rs772171318
|
0.00001
|
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)
|
rs762876171
|
0.00001
|
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)
|
rs1360003341
|
0.00001
|
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met)
|
rs781065380
|
0.00001
|
NM_020631.6(PLEKHG5):c.3011+3G>A
|
rs929173295
|
0.00001
|
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys)
|
rs768676402
|
0.00001
|
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser)
|
rs762546636
|
0.00001
|
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg)
|
rs371931309
|
0.00001
|
NM_020631.6(PLEKHG5):c.474G>A (p.Glu158=)
|
rs751440606
|
0.00001
|
NM_020631.6(PLEKHG5):c.47C>G (p.Ser16Cys)
|
rs201090415
|
0.00001
|
NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu)
|
rs1644685170
|
0.00001
|
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=)
|
rs773624292
|
0.00001
|
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)
|
rs531190324
|
0.00001
|
NM_020631.6(PLEKHG5):c.538C>T (p.Pro180Ser)
|
rs752485682
|
0.00001
|
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys)
|
rs760118221
|
0.00001
|
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp)
|
rs776026198
|
0.00001
|
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His)
|
rs939508255
|
0.00001
|
NM_020631.6(PLEKHG5):c.621G>A (p.Ser207=)
|
rs973366523
|
0.00001
|
NM_020631.6(PLEKHG5):c.631G>C (p.Gly211Arg)
|
rs1428031986
|
0.00001
|
NM_020631.6(PLEKHG5):c.63C>T (p.Asn21=)
|
rs138432284
|
0.00001
|
NM_020631.6(PLEKHG5):c.648C>T (p.Pro216=)
|
rs1030435109
|
0.00001
|
NM_020631.6(PLEKHG5):c.649G>A (p.Gly217Arg)
|
rs1253304988
|
0.00001
|
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys)
|
rs774845320
|
0.00001
|
NM_020631.6(PLEKHG5):c.663C>T (p.Pro221=)
|
rs577756377
|
0.00001
|
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala)
|
rs1348491680
|
0.00001
|
NM_020631.6(PLEKHG5):c.702C>T (p.Gly234=)
|
rs904191245
|
0.00001
|
NM_020631.6(PLEKHG5):c.705C>T (p.Ser235=)
|
rs573567464
|
0.00001
|
NM_020631.6(PLEKHG5):c.707C>T (p.Thr236Ile)
|
rs1180691543
|
0.00001
|
NM_020631.6(PLEKHG5):c.746G>A (p.Arg249His)
|
rs1172862216
|
0.00001
|
NM_020631.6(PLEKHG5):c.765C>T (p.Ser255=)
|
rs566596803
|
0.00001
|
NM_020631.6(PLEKHG5):c.777C>T (p.Ser259=)
|
rs373244537
|
0.00001
|
NM_020631.6(PLEKHG5):c.795+12C>T
|
rs754372537
|
0.00001
|
NM_020631.6(PLEKHG5):c.835A>G (p.Thr279Ala)
|
rs376817987
|
0.00001
|
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg)
|
rs569434019
|
0.00001
|
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu)
|
rs998963899
|
0.00001
|
NM_020631.6(PLEKHG5):c.877C>T (p.Arg293Cys)
|
rs374645103
|
0.00001
|
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val)
|
rs1356599252
|
0.00001
|
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys)
|
rs750943470
|
0.00001
|
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly)
|
rs145340974
|
0.00001
|
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys)
|
rs148745591
|
0.00001
|
NM_020631.6(PLEKHG5):c.931A>C (p.Asn311His)
|
rs146020517
|
0.00001
|
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr)
|
rs763262703
|
0.00001
|
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp)
|
rs761456870
|
0.00001
|
NM_020631.6(PLEKHG5):c.984+12C>T
|
rs1322343243
|
0.00001
|
NM_020631.6(PLEKHG5):c.984+9G>A
|
rs746193927
|
0.00001
|
NM_020631.6(PLEKHG5):c.985-6C>T
|
rs1371350296
|
0.00001
|
NM_020631.6(PLEKHG5):c.995G>A (p.Arg332Gln)
|
rs769390222
|
0.00001
|
NM_021625.5(TRPV4):c.1002C>T (p.Asn334=)
|
rs1034780415
|
0.00001
|
NM_021625.5(TRPV4):c.1007G>A (p.Arg336His)
|
rs768028153
|
0.00001
|
NM_021625.5(TRPV4):c.1053C>G (p.Leu351=)
|
rs1890580285
|
0.00001
|
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His)
|
rs764715510
|
0.00001
|
NM_021625.5(TRPV4):c.1073C>T (p.Pro358Leu)
|
rs752782460
|
0.00001
|
NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn)
|
rs774779620
|
0.00001
|
NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met)
|
rs1238768782
|
0.00001
|
NM_021625.5(TRPV4):c.1115C>T (p.Ser372Leu)
|
rs1479394096
|
0.00001
|
NM_021625.5(TRPV4):c.1134C>T (p.Ala378=)
|
rs375468689
|
0.00001
|
NM_021625.5(TRPV4):c.1148T>C (p.Ile383Thr)
|
rs759729089
|
0.00001
|
NM_021625.5(TRPV4):c.1152+11G>A
|
rs763116011
|
0.00001
|
NM_021625.5(TRPV4):c.1153-16C>T
|
rs371581388
|
0.00001
|
NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr)
|
rs1201172376
|
0.00001
|
NM_021625.5(TRPV4):c.1184C>T (p.Thr395Met)
|
rs374197231
|
0.00001
|
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met)
|
rs757522459
|
0.00001
|
NM_021625.5(TRPV4):c.1333-20G>A
|
rs538807931
|
0.00001
|
NM_021625.5(TRPV4):c.1333-5C>T
|
rs761542549
|
0.00001
|
NM_021625.5(TRPV4):c.1336C>T (p.Arg446Cys)
|
rs145900289
|
0.00001
|
NM_021625.5(TRPV4):c.1342G>A (p.Glu448Lys)
|
rs373103155
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021625.5(TRPV4):c.1392C>T (p.Arg464=)
|
rs182609216
|
0.00001
|
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)
|
rs189872222
|
0.00001
|
NM_021625.5(TRPV4):c.1458T>C (p.Thr486=)
|
rs979616754
|
0.00001
|
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr)
|
rs546287338
|
0.00001
|
NM_021625.5(TRPV4):c.1469A>G (p.Tyr490Cys)
|
rs745759761
|
0.00001
|
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu)
|
rs757284253
|
0.00001
|
NM_021625.5(TRPV4):c.1479G>A (p.Pro493=)
|
rs1337838267
|
0.00001
|
NM_021625.5(TRPV4):c.1493C>T (p.Pro498Leu)
|
rs1051494811
|
0.00001
|
NM_021625.5(TRPV4):c.1507C>T (p.Arg503Cys)
|
rs750992130
|
0.00001
|
NM_021625.5(TRPV4):c.1508G>A (p.Arg503His)
|
rs765199576
|
0.00001
|
NM_021625.5(TRPV4):c.1509C>T (p.Arg503=)
|
rs892473691
|
0.00001
|
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala)
|
rs762000967
|
0.00001
|
NM_021625.5(TRPV4):c.1522T>C (p.Tyr508His)
|
rs1167973138
|
0.00001
|
NM_021625.5(TRPV4):c.1528C>T (p.Arg510Trp)
|
rs918220829
|
0.00001
|
NM_021625.5(TRPV4):c.1563G>A (p.Gly521=)
|
rs750906932
|
0.00001
|
NM_021625.5(TRPV4):c.1577T>G (p.Phe526Cys)
|
rs1329377960
|
0.00001
|
NM_021625.5(TRPV4):c.1584+16C>G
|
rs748046273
|
0.00001
|
NM_021625.5(TRPV4):c.1584+17C>T
|
rs1272331727
|
0.00001
|
NM_021625.5(TRPV4):c.1584+1G>A
|
rs775922797
|
0.00001
|
NM_021625.5(TRPV4):c.1586T>C (p.Ile529Thr)
|
rs976191720
|
0.00001
|
NM_021625.5(TRPV4):c.159T>A (p.Asp53Glu)
|
rs765021989
|
0.00001
|
NM_021625.5(TRPV4):c.15C>T (p.Ser5=)
|
rs751824781
|
0.00001
|
NM_021625.5(TRPV4):c.1600A>G (p.Met534Val)
|
rs761079651
|
0.00001
|
NM_021625.5(TRPV4):c.1608A>G (p.Lys536=)
|
rs1438689509
|
0.00001
|
NM_021625.5(TRPV4):c.1626T>C (p.Ser542=)
|
rs745522429
|
0.00001
|
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn)
|
rs757630049
|
0.00001
|
NM_021625.5(TRPV4):c.1658+10G>A
|
rs1890171906
|
0.00001
|
NM_021625.5(TRPV4):c.1658+5G>A
|
rs756714651
|
0.00001
|
NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys)
|
rs775092573
|
0.00001
|
NM_021625.5(TRPV4):c.1683C>T (p.Ile561=)
|
rs780088701
|
0.00001
|
NM_021625.5(TRPV4):c.16G>A (p.Glu6Lys)
|
rs769769057
|
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.1780C>T (p.Arg594Cys)
|
rs868185064
|
0.00001
|
NM_021625.5(TRPV4):c.1818C>T (p.Ile606=)
|
rs780184323
|
0.00001
|
NM_021625.5(TRPV4):c.1825-12T>G
|
rs957764571
|
0.00001
|
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.1857C>T (p.Leu619=)
|
rs781048658
|
0.00001
|
NM_021625.5(TRPV4):c.1892-9C>T
|
rs376975164
|
0.00001
|
NM_021625.5(TRPV4):c.1909A>T (p.Asn637Tyr)
|
rs1417825919
|
0.00001
|
NM_021625.5(TRPV4):c.1914G>A (p.Pro638=)
|
rs372476984
|
0.00001
|
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
|
rs1889847260
|
0.00001
|
NM_021625.5(TRPV4):c.19G>T (p.Gly7Cys)
|
rs1258802633
|
0.00001
|
NM_021625.5(TRPV4):c.2013G>A (p.Leu671=)
|
rs753041811
|
0.00001
|
NM_021625.5(TRPV4):c.2035G>A (p.Gly679Ser)
|
rs1413159026
|
0.00001
|
NM_021625.5(TRPV4):c.2038A>G (p.Met680Val)
|
rs114408421
|
0.00001
|
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
|
rs766420746
|
0.00001
|
NM_021625.5(TRPV4):c.2076C>T (p.Pro692=)
|
rs769988861
|
0.00001
|
NM_021625.5(TRPV4):c.2077G>A (p.Val693Met)
|
rs761952727
|
0.00001
|
NM_021625.5(TRPV4):c.2088C>T (p.Ile696=)
|
rs367846257
|
0.00001
|
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=)
|
rs774321681
|
0.00001
|
NM_021625.5(TRPV4):c.209A>T (p.Lys70Met)
|
rs1437603973
|
0.00001
|
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
|
rs1213728059
|
0.00001
|
NM_021625.5(TRPV4):c.2125C>T (p.Leu709=)
|
rs116571438
|
0.00001
|
NM_021625.5(TRPV4):c.2136C>T (p.Asn712=)
|
rs959967236
|
0.00001
|
NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)
|
rs751939888
|
0.00001
|
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)
|
rs866577166
|
0.00001
|
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
|
rs150719390
|
0.00001
|
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg)
|
rs1423138633
|
0.00001
|
NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser)
|
rs1889833666
|
0.00001
|
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter)
|
rs200757159
|
0.00001
|
NM_021625.5(TRPV4):c.2209-1G>A
|
rs1262326007
|
0.00001
|
NM_021625.5(TRPV4):c.2226G>A (p.Leu742=)
|
rs769329467
|
0.00001
|
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly)
|
rs375189134
|
0.00001
|
NM_021625.5(TRPV4):c.2244C>T (p.Phe748=)
|
rs1340974810
|
0.00001
|
NM_021625.5(TRPV4):c.2267T>A (p.Phe756Tyr)
|
rs779238510
|
0.00001
|
NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu)
|
rs1435404361
|
0.00001
|
NM_021625.5(TRPV4):c.2295C>G (p.Gly765=)
|
rs753038628
|
0.00001
|
NM_021625.5(TRPV4):c.2336+1G>A
|
rs771778984
|
0.00001
|
NM_021625.5(TRPV4):c.2349G>A (p.Val783=)
|
rs778478432
|
0.00001
|
NM_021625.5(TRPV4):c.2387A>G (p.Asn796Ser)
|
rs1188535536
|
0.00001
|
NM_021625.5(TRPV4):c.2391G>A (p.Glu797=)
|
rs781358829
|
0.00001
|
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)
|
rs375851168
|
0.00001
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
NM_021625.5(TRPV4):c.2440G>T (p.Val814Leu)
|
rs202075458
|
0.00001
|
NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys)
|
rs748742151
|
0.00001
|
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His)
|
rs1431224527
|
0.00001
|
NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys)
|
rs776544875
|
0.00001
|
NM_021625.5(TRPV4):c.2454C>G (p.Arg818=)
|
rs1238590299
|
0.00001
|
NM_021625.5(TRPV4):c.2458+11G>A
|
rs780193230
|
0.00001
|
NM_021625.5(TRPV4):c.2458+20C>T
|
rs754572256
|
0.00001
|
NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr)
|
rs768849310
|
0.00001
|
NM_021625.5(TRPV4):c.2459-8C>T
|
rs967681987
|
0.00001
|
NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly)
|
rs754158623
|
0.00001
|
NM_021625.5(TRPV4):c.2499C>A (p.Asn833Lys)
|
rs147045782
|
0.00001
|
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
|
rs768620169
|
0.00001
|
NM_021625.5(TRPV4):c.2550C>T (p.Asn850=)
|
rs571407723
|
0.00001
|
NM_021625.5(TRPV4):c.2555G>A (p.Arg852His)
|
rs1276147923
|
0.00001
|
NM_021625.5(TRPV4):c.2558G>A (p.Cys853Tyr)
|
rs771139646
|
0.00001
|
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)
|
rs368963822
|
0.00001
|
NM_021625.5(TRPV4):c.26G>A (p.Arg9His)
|
rs776163103
|
0.00001
|
NM_021625.5(TRPV4):c.300G>A (p.Lys100=)
|
rs370135765
|
0.00001
|
NM_021625.5(TRPV4):c.330C>T (p.Tyr110=)
|
rs777176504
|
0.00001
|
NM_021625.5(TRPV4):c.331G>A (p.Gly111Ser)
|
rs768721947
|
0.00001
|
NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys)
|
rs747135844
|
0.00001
|
NM_021625.5(TRPV4):c.341G>A (p.Arg114His)
|
rs780302795
|
0.00001
|
NM_021625.5(TRPV4):c.345C>G (p.His115Gln)
|
rs1420465373
|
0.00001
|
NM_021625.5(TRPV4):c.384A>G (p.Ile128Met)
|
rs1891728218
|
0.00001
|
NM_021625.5(TRPV4):c.386+14G>A
|
rs1327605836
|
0.00001
|
NM_021625.5(TRPV4):c.387-17C>T
|
rs1214680066
|
0.00001
|
NM_021625.5(TRPV4):c.393G>A (p.Gln131=)
|
rs754924433
|
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.442G>A (p.Val148Ile)
|
rs998631604
|
0.00001
|
NM_021625.5(TRPV4):c.472G>A (p.Val158Met)
|
rs746905653
|
0.00001
|
NM_021625.5(TRPV4):c.477C>G (p.Ser159=)
|
rs905858151
|
0.00001
|
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
|
rs756559560
|
0.00001
|
NM_021625.5(TRPV4):c.507G>T (p.Leu169=)
|
rs753141319
|
0.00001
|
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly)
|
rs989621170
|
0.00001
|
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)
|
rs751647405
|
0.00001
|
NM_021625.5(TRPV4):c.536G>A (p.Arg179His)
|
rs1362478789
|
0.00001
|
NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter)
|
rs773622769
|
0.00001
|
NM_021625.5(TRPV4):c.560-12C>G
|
rs752125058
|
0.00001
|
NM_021625.5(TRPV4):c.561G>A (p.Glu187=)
|
rs1190778746
|
0.00001
|
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg)
|
rs764970185
|
0.00001
|
NM_021625.5(TRPV4):c.593C>G (p.Ala198Gly)
|
rs775317084
|
0.00001
|
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
|
rs377729962
|
0.00001
|
NM_021625.5(TRPV4):c.621C>T (p.Asn207=)
|
rs777168770
|
0.00001
|
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn)
|
rs769445973
|
0.00001
|
NM_021625.5(TRPV4):c.624C>T (p.Asp208=)
|
rs372000524
|
0.00001
|
NM_021625.5(TRPV4):c.630C>T (p.Ile210=)
|
rs755447747
|
0.00001
|
NM_021625.5(TRPV4):c.648C>T (p.Ile216=)
|
rs201254881
|
0.00001
|
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101
|
0.00001
|
NM_021625.5(TRPV4):c.660C>T (p.Thr220=)
|
rs139983004
|
0.00001
|
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu)
|
rs373980330
|
0.00001
|
NM_021625.5(TRPV4):c.687G>A (p.Ser229=)
|
rs545660001
|
0.00001
|
NM_021625.5(TRPV4):c.690C>T (p.Pro230=)
|
rs747822070
|
0.00001
|
NM_021625.5(TRPV4):c.695G>A (p.Arg232His)
|
rs769107613
|
0.00001
|
NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg)
|
rs970940485
|
0.00001
|
NM_021625.5(TRPV4):c.6G>A (p.Ala2=)
|
rs1392798743
|
0.00001
|
NM_021625.5(TRPV4):c.712+5G>A
|
rs372251308
|
0.00001
|
NM_021625.5(TRPV4):c.713-16C>T
|
rs777854437
|
0.00001
|
NM_021625.5(TRPV4):c.726G>C (p.Leu242=)
|
rs1192938006
|
0.00001
|
NM_021625.5(TRPV4):c.737T>C (p.Ile246Thr)
|
rs1200887655
|
0.00001
|
NM_021625.5(TRPV4):c.759C>T (p.Tyr253=)
|
rs370318363
|
0.00001
|
NM_021625.5(TRPV4):c.798C>T (p.Ala266=)
|
rs1204460941
|
0.00001
|
NM_021625.5(TRPV4):c.799C>G (p.Gln267Glu)
|
rs1323996959
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.811C>T (p.Arg271Cys)
|
rs1227793261
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_021625.5(TRPV4):c.853+14T>C
|
rs1226363562
|
0.00001
|
NM_021625.5(TRPV4):c.855G>T (p.Gly285=)
|
rs879253959
|
0.00001
|
NM_021625.5(TRPV4):c.877G>A (p.Ala293Thr)
|
rs1054889070
|
0.00001
|
NM_021625.5(TRPV4):c.904A>T (p.Asn302Tyr)
|
rs780551685
|
0.00001
|
NM_021625.5(TRPV4):c.915G>A (p.Thr305=)
|
rs1565870990
|
0.00001
|
NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser)
|
rs1257302371
|
0.00001
|
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val)
|
rs751139506
|
0.00001
|
NM_021625.5(TRPV4):c.940A>G (p.Met314Val)
|
rs151101009
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_021629.4(GNB4):c.204-2A>G
|
rs1410643364
|
0.00001
|
NM_021629.4(GNB4):c.204-7_204-6insT
|
rs1471080508
|
0.00001
|
NM_021629.4(GNB4):c.27A>G (p.Gln9=)
|
rs376598495
|
0.00001
|
NM_021629.4(GNB4):c.291C>T (p.Ser97=)
|
rs370235365
|
0.00001
|
NM_021629.4(GNB4):c.43C>T (p.Arg15Trp)
|
rs765056278
|
0.00001
|
NM_021629.4(GNB4):c.592A>T (p.Thr198Ser)
|
rs776836938
|
0.00001
|
NM_021629.4(GNB4):c.594T>C (p.Thr198=)
|
rs768745441
|
0.00001
|
NM_021629.4(GNB4):c.630A>T (p.Leu210Phe)
|
rs779372670
|
0.00001
|
NM_021629.4(GNB4):c.689A>G (p.Asn230Ser)
|
rs1459911526
|
0.00001
|
NM_021629.4(GNB4):c.700-3T>C
|
rs199620294
|
0.00001
|
NM_021629.4(GNB4):c.709A>C (p.Asn237His)
|
rs758131126
|
0.00001
|
NM_021629.4(GNB4):c.714A>G (p.Gly238=)
|
rs1433615086
|
0.00001
|
NM_021629.4(GNB4):c.766C>T (p.Arg256Cys)
|
rs971032854
|
0.00001
|
NM_021629.4(GNB4):c.797A>G (p.His266Arg)
|
rs375559586
|
0.00001
|
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn)
|
rs752762550
|
0.00001
|
NM_021629.4(GNB4):c.7G>A (p.Glu3Lys)
|
rs955229785
|
0.00001
|
NM_021629.4(GNB4):c.803A>G (p.Asn268Ser)
|
rs200411099
|
0.00001
|
NM_021629.4(GNB4):c.87G>A (p.Thr29=)
|
rs1241877103
|
0.00001
|
NM_021629.4(GNB4):c.897G>A (p.Thr299=)
|
rs1431464178
|
0.00001
|
NM_021629.4(GNB4):c.898C>G (p.Leu300Val)
|
rs1390536220
|
0.00001
|
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn)
|
rs1167931862
|
0.00001
|
NM_021629.4(GNB4):c.915A>G (p.Ala305=)
|
rs1281047589
|
0.00001
|
NM_021629.4(GNB4):c.916+10T>C
|
rs371633908
|
0.00001
|
NM_021629.4(GNB4):c.918T>G (p.Gly306=)
|
rs1714292732
|
0.00001
|
NM_021629.4(GNB4):c.927T>A (p.Ala309=)
|
rs769787081
|
0.00001
|
NM_021629.4(GNB4):c.941G>A (p.Arg314His)
|
rs747095396
|
0.00001
|
NM_021629.4(GNB4):c.95A>G (p.Gln32Arg)
|
rs1440906446
|
0.00001
|
NM_021629.4(GNB4):c.96+9T>C
|
rs1222924595
|
0.00001
|
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
|
rs375622503
|
0.00001
|
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)
|
rs747903915
|
0.00001
|
NM_022489.4(INF2):c.1109G>T (p.Gly370Val)
|
rs772790262
|
0.00001
|
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe)
|
rs770882784
|
0.00001
|
NM_022489.4(INF2):c.1118C>T (p.Pro373Leu)
|
rs776585357
|
0.00001
|
NM_022489.4(INF2):c.1119G>A (p.Pro373=)
|
rs759304513
|
0.00001
|
NM_022489.4(INF2):c.1152G>A (p.Glu384=)
|
rs1309305897
|
0.00001
|
NM_022489.4(INF2):c.1182C>T (p.Cys394=)
|
rs755392580
|
0.00001
|
NM_022489.4(INF2):c.1189G>A (p.Val397Met)
|
rs771775245
|
0.00001
|
NM_022489.4(INF2):c.1209G>C (p.Glu403Asp)
|
rs1235365370
|
0.00001
|
NM_022489.4(INF2):c.1210A>G (p.Ser404Gly)
|
rs776536088
|
0.00001
|
NM_022489.4(INF2):c.1299C>T (p.Ser433=)
|
rs1431857911
|
0.00001
|
NM_022489.4(INF2):c.1337T>A (p.Leu446Gln)
|
rs775331561
|
0.00001
|
NM_022489.4(INF2):c.1368A>G (p.Thr456=)
|
rs1371464168
|
0.00001
|
NM_022489.4(INF2):c.1414C>A (p.Pro472Thr)
|
rs1316096936
|
0.00001
|
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala)
|
rs1271375014
|
0.00001
|
NM_022489.4(INF2):c.1436C>T (p.Pro479Leu)
|
rs1203712573
|
0.00001
|
NM_022489.4(INF2):c.1437C>G (p.Pro479=)
|
rs1284032263
|
0.00001
|
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)
|
rs1218562289
|
0.00001
|
NM_022489.4(INF2):c.1471C>T (p.Pro491Ser)
|
rs1378009593
|
0.00001
|
NM_022489.4(INF2):c.1484C>T (p.Pro495Leu)
|
rs756913857
|
0.00001
|
NM_022489.4(INF2):c.1488C>T (p.Gly496=)
|
rs1293404365
|
0.00001
|
NM_022489.4(INF2):c.1503C>T (p.Pro501=)
|
rs1057520913
|
0.00001
|
NM_022489.4(INF2):c.1516C>T (p.Leu506=)
|
rs747182187
|
0.00001
|
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr)
|
rs751942076
|
0.00001
|
NM_022489.4(INF2):c.1593G>A (p.Ala531=)
|
rs186326868
|
0.00001
|
NM_022489.4(INF2):c.1601T>C (p.Met534Thr)
|
rs772037388
|
0.00001
|
NM_022489.4(INF2):c.1605G>A (p.Glu535=)
|
rs374316478
|
0.00001
|
NM_022489.4(INF2):c.1612A>G (p.Ile538Val)
|
rs377402690
|
0.00001
|
NM_022489.4(INF2):c.1646C>T (p.Ala549Val)
|
rs1191795011
|
0.00001
|
NM_022489.4(INF2):c.1665G>T (p.Arg555=)
|
rs765866844
|
0.00001
|
NM_022489.4(INF2):c.1734T>G (p.Arg578=)
|
rs762313731
|
0.00001
|
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys)
|
rs775320095
|
0.00001
|
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)
|
rs368948089
|
0.00001
|
NM_022489.4(INF2):c.1878G>A (p.Glu626=)
|
rs766224685
|
0.00001
|
NM_022489.4(INF2):c.1887+9G>A
|
rs763172535
|
0.00001
|
NM_022489.4(INF2):c.1899C>T (p.Leu633=)
|
rs763044552
|
0.00001
|
NM_022489.4(INF2):c.1956C>T (p.Asn652=)
|
rs767304781
|
0.00001
|
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp)
|
rs1047172155
|
0.00001
|
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp)
|
rs1378876029
|
0.00001
|
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)
|
rs1279137766
|
0.00001
|
NM_022489.4(INF2):c.2004T>C (p.Asp668=)
|
rs750326369
|
0.00001
|
NM_022489.4(INF2):c.2052+14C>T
|
rs764509188
|
0.00001
|
NM_022489.4(INF2):c.2090A>T (p.Lys697Met)
|
rs1256555211
|
0.00001
|
NM_022489.4(INF2):c.2103C>T (p.Ala701=)
|
rs369998116
|
0.00001
|
NM_022489.4(INF2):c.2128G>C (p.Ala710Pro)
|
rs373806518
|
0.00001
|
NM_022489.4(INF2):c.2138+13G>A
|
rs758122662
|
0.00001
|
NM_022489.4(INF2):c.2150G>A (p.Arg717Gln)
|
rs769493931
|
0.00001
|
NM_022489.4(INF2):c.2166G>A (p.Leu722=)
|
rs1243602670
|
0.00001
|
NM_022489.4(INF2):c.2180C>T (p.Ala727Val)
|
rs1156240396
|
0.00001
|
NM_022489.4(INF2):c.2188G>A (p.Val730Met)
|
rs373199310
|
0.00001
|
NM_022489.4(INF2):c.2235C>T (p.Cys745=)
|
rs1439820692
|
0.00001
|
NM_022489.4(INF2):c.2239+9G>A
|
rs1413571611
|
0.00001
|
NM_022489.4(INF2):c.2240-9C>T
|
rs759780715
|
0.00001
|
NM_022489.4(INF2):c.2255G>A (p.Arg752His)
|
rs1450593874
|
0.00001
|
NM_022489.4(INF2):c.229C>T (p.Leu77=)
|
rs1409863695
|
0.00001
|
NM_022489.4(INF2):c.2301C>T (p.Phe767=)
|
rs900191744
|
0.00001
|
NM_022489.4(INF2):c.2310+8A>T
|
rs76748095
|
0.00001
|
NM_022489.4(INF2):c.2310_2310+2dup
|
rs1424859343
|
0.00001
|
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr)
|
rs774280485
|
0.00001
|
NM_022489.4(INF2):c.2328C>T (p.Asp776=)
|
rs771802606
|
0.00001
|
NM_022489.4(INF2):c.232C>T (p.Leu78=)
|
rs1417873293
|
0.00001
|
NM_022489.4(INF2):c.2390G>A (p.Arg797His)
|
rs200261709
|
0.00001
|
NM_022489.4(INF2):c.2415G>A (p.Leu805=)
|
rs779751728
|
0.00001
|
NM_022489.4(INF2):c.2418+20G>A
|
rs1470076316
|
0.00001
|
NM_022489.4(INF2):c.2419-15C>T
|
rs777686885
|
0.00001
|
NM_022489.4(INF2):c.2419-7A>G
|
rs749487696
|
0.00001
|
NM_022489.4(INF2):c.2489+13T>C
|
rs757174695
|
0.00001
|
NM_022489.4(INF2):c.2490-15C>A
|
rs775068618
|
0.00001
|
NM_022489.4(INF2):c.2491A>T (p.Ile831Phe)
|
rs751004003
|
0.00001
|
NM_022489.4(INF2):c.2550C>T (p.Thr850=)
|
rs771112980
|
0.00001
|
NM_022489.4(INF2):c.2551G>A (p.Glu851Lys)
|
rs776939784
|
0.00001
|
NM_022489.4(INF2):c.2553G>A (p.Glu851=)
|
rs368901958
|
0.00001
|
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
|
rs376094545
|
0.00001
|
NM_022489.4(INF2):c.2585A>G (p.Gln862Arg)
|
rs1471229828
|
0.00001
|
NM_022489.4(INF2):c.2595C>T (p.Tyr865=)
|
rs1244556036
|
0.00001
|
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala)
|
rs753660816
|
0.00001
|
NM_022489.4(INF2):c.2598C>T (p.Thr866=)
|
rs552110857
|
0.00001
|
NM_022489.4(INF2):c.2602C>T (p.Arg868Cys)
|
rs757230162
|
0.00001
|
NM_022489.4(INF2):c.2603G>A (p.Arg868His)
|
rs369698920
|
0.00001
|
NM_022489.4(INF2):c.2611-11C>T
|
rs760253897
|
0.00001
|
NM_022489.4(INF2):c.2611-12C>T
|
rs1057522725
|
0.00001
|
NM_022489.4(INF2):c.2611-7C>T
|
rs770565682
|
0.00001
|
NM_022489.4(INF2):c.261C>T (p.Arg87=)
|
rs761111655
|
0.00001
|
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)
|
rs762706488
|
0.00001
|
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys)
|
rs1314746427
|
0.00001
|
NM_022489.4(INF2):c.2670A>G (p.Gln890=)
|
rs1890119204
|
0.00001
|
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp)
|
rs926222455
|
0.00001
|
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln)
|
rs777498088
|
0.00001
|
NM_022489.4(INF2):c.2673G>A (p.Arg891=)
|
rs938468023
|
0.00001
|
NM_022489.4(INF2):c.2701G>A (p.Ala901Thr)
|
rs775349897
|
0.00001
|
NM_022489.4(INF2):c.2727G>A (p.Thr909=)
|
rs1221995675
|
0.00001
|
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)
|
rs774099930
|
0.00001
|
NM_022489.4(INF2):c.2769C>T (p.Ala923=)
|
rs370426339
|
0.00001
|
NM_022489.4(INF2):c.276C>T (p.Ile92=)
|
rs201652529
|
0.00001
|
NM_022489.4(INF2):c.2775+12C>T
|
rs200236783
|
0.00001
|
NM_022489.4(INF2):c.2775+16G>A
|
rs753203154
|
0.00001
|
NM_022489.4(INF2):c.2776-5T>C
|
rs1442200771
|
0.00001
|
NM_022489.4(INF2):c.2839G>A (p.Glu947Lys)
|
rs1182433339
|
0.00001
|
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp)
|
rs1243295333
|
0.00001
|
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala)
|
rs1473555311
|
0.00001
|
NM_022489.4(INF2):c.2849G>A (p.Arg950Gln)
|
rs978406474
|
0.00001
|
NM_022489.4(INF2):c.2851C>A (p.Arg951=)
|
rs1404467783
|
0.00001
|
NM_022489.4(INF2):c.2852G>A (p.Arg951Gln)
|
rs376506149
|
0.00001
|
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln)
|
rs1440140886
|
0.00001
|
NM_022489.4(INF2):c.2868C>T (p.Asp956=)
|
rs748088770
|
0.00001
|
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg)
|
rs984879135
|
0.00001
|
NM_022489.4(INF2):c.2879-20G>C
|
rs879254306
|
0.00001
|
NM_022489.4(INF2):c.2879-3C>T
|
rs757145852
|
0.00001
|
NM_022489.4(INF2):c.2879-5C>T
|
rs746770947
|
0.00001
|
NM_022489.4(INF2):c.2908G>A (p.Val970Met)
|
rs977752085
|
0.00001
|
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser)
|
rs776214674
|
0.00001
|
NM_022489.4(INF2):c.2928G>A (p.Leu976=)
|
rs759214741
|
0.00001
|
NM_022489.4(INF2):c.2942G>A (p.Arg981Lys)
|
rs764912111
|
0.00001
|
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln)
|
rs757988412
|
0.00001
|
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile)
|
rs377414980
|
0.00001
|
NM_022489.4(INF2):c.2988C>T (p.Thr996=)
|
rs1047869757
|
0.00001
|
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn)
|
rs370719592
|
0.00001
|
NM_022489.4(INF2):c.3037C>A (p.Pro1013Thr)
|
rs1389268909
|
0.00001
|
NM_022489.4(INF2):c.3040+13C>T
|
rs770337742
|
0.00001
|
NM_022489.4(INF2):c.3041-3C>T
|
rs1157403781
|
0.00001
|
NM_022489.4(INF2):c.3041-4C>T
|
rs945997134
|
0.00001
|
NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser)
|
rs1249757355
|
0.00001
|
NM_022489.4(INF2):c.3054C>T (p.Asn1018=)
|
rs983208436
|
0.00001
|
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg)
|
rs762689516
|
0.00001
|
NM_022489.4(INF2):c.3083G>A (p.Arg1028His)
|
rs1368908308
|
0.00001
|
NM_022489.4(INF2):c.3090C>T (p.Pro1030=)
|
rs1306938117
|
0.00001
|
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp)
|
rs751648279
|
0.00001
|
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala)
|
rs1316234873
|
0.00001
|
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile)
|
rs746392134
|
0.00001
|
NM_022489.4(INF2):c.3126C>T (p.Ser1042=)
|
rs1035033414
|
0.00001
|
NM_022489.4(INF2):c.3127G>A (p.Glu1043Lys)
|
rs958862615
|
0.00001
|
NM_022489.4(INF2):c.3165C>T (p.Pro1055=)
|
rs766456624
|
0.00001
|
NM_022489.4(INF2):c.3170C>G (p.Pro1057Arg)
|
rs1407364340
|
0.00001
|
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala)
|
rs202244190
|
0.00001
|
NM_022489.4(INF2):c.3224G>A (p.Arg1075His)
|
rs370169829
|
0.00001
|
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=)
|
rs771664996
|
0.00001
|
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn)
|
rs557741807
|
0.00001
|
NM_022489.4(INF2):c.3305C>T (p.Pro1102Leu)
|
rs779176784
|
0.00001
|
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro)
|
rs1212327132
|
0.00001
|
NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr)
|
rs200246759
|
0.00001
|
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg)
|
rs775116734
|
0.00001
|
NM_022489.4(INF2):c.3405G>A (p.Thr1135=)
|
rs766390722
|
0.00001
|
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val)
|
rs759925463
|
0.00001
|
NM_022489.4(INF2):c.3462C>T (p.Asp1154=)
|
rs1436685876
|
0.00001
|
NM_022489.4(INF2):c.3475C>T (p.Arg1159Cys)
|
rs564510154
|
0.00001
|
NM_022489.4(INF2):c.3494C>T (p.Ala1165Val)
|
rs771044828
|
0.00001
|
NM_022489.4(INF2):c.3501C>A (p.Gly1167=)
|
rs776977547
|
0.00001
|
NM_022489.4(INF2):c.3509G>A (p.Gly1170Glu)
|
rs776092624
|
0.00001
|
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)
|
rs778879482
|
0.00001
|
NM_022489.4(INF2):c.3537G>A (p.Thr1179=)
|
rs758215424
|
0.00001
|
NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys)
|
rs1064796974
|
0.00001
|
NM_022489.4(INF2):c.3597C>T (p.Thr1199=)
|
rs1160360427
|
0.00001
|
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu)
|
rs751351877
|
0.00001
|
NM_022489.4(INF2):c.3624C>T (p.Pro1208=)
|
rs1387927318
|
0.00001
|
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly)
|
rs989477091
|
0.00001
|
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp)
|
rs200823300
|
0.00001
|
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro)
|
rs754128326
|
0.00001
|
NM_022489.4(INF2):c.368G>A (p.Gly123Asp)
|
rs994483790
|
0.00001
|
NM_022489.4(INF2):c.3712G>A (p.Asp1238Asn)
|
rs1290467030
|
0.00001
|
NM_022489.4(INF2):c.3734T>C (p.Leu1245Pro)
|
rs761808106
|
0.00001
|
NM_022489.4(INF2):c.3737G>C (p.Cys1246Ser)
|
rs555680535
|
0.00001
|
NM_022489.4(INF2):c.391+14T>C
|
rs1224355789
|
0.00001
|
NM_022489.4(INF2):c.392-14C>T
|
rs374558300
|
0.00001
|
NM_022489.4(INF2):c.409G>A (p.Val137Met)
|
rs200713451
|
0.00001
|
NM_022489.4(INF2):c.410T>G (p.Val137Gly)
|
rs760611306
|
0.00001
|
NM_022489.4(INF2):c.475G>A (p.Val159Met)
|
rs781188543
|
0.00001
|
NM_022489.4(INF2):c.489C>T (p.Asp163=)
|
rs769080446
|
0.00001
|
NM_022489.4(INF2):c.508-10C>T
|
rs568890039
|
0.00001
|
NM_022489.4(INF2):c.509C>T (p.Thr170Met)
|
rs767698763
|
0.00001
|
NM_022489.4(INF2):c.516C>T (p.Cys172=)
|
rs1346247579
|
0.00001
|
NM_022489.4(INF2):c.549C>T (p.Asn183=)
|
rs1555373624
|
0.00001
|
NM_022489.4(INF2):c.559G>A (p.Gly187Ser)
|
rs772603803
|
0.00001
|
NM_022489.4(INF2):c.570C>T (p.Asn190=)
|
rs200662352
|
0.00001
|
NM_022489.4(INF2):c.571G>A (p.Val191Met)
|
rs1416500072
|
0.00001
|
NM_022489.4(INF2):c.579C>T (p.Tyr193=)
|
rs986330062
|
0.00001
|
NM_022489.4(INF2):c.610G>A (p.Val204Ile)
|
rs1049200069
|
0.00001
|
NM_022489.4(INF2):c.624C>T (p.Pro208=)
|
rs750610272
|
0.00001
|
NM_022489.4(INF2):c.634C>T (p.Arg212Cys)
|
rs748481552
|
0.00001
|
NM_022489.4(INF2):c.636C>T (p.Arg212=)
|
rs373383463
|
0.00001
|
NM_022489.4(INF2):c.641G>A (p.Arg214His)
|
rs267606879
|
0.00001
|
NM_022489.4(INF2):c.651G>A (p.Leu217=)
|
rs780516674
|
0.00001
|
NM_022489.4(INF2):c.654G>T (p.Arg218=)
|
rs745354738
|
0.00001
|
NM_022489.4(INF2):c.667+11G>A
|
rs989845957
|
0.00001
|
NM_022489.4(INF2):c.667G>A (p.Gly223Arg)
|
rs1209201341
|
0.00001
|
NM_022489.4(INF2):c.695G>A (p.Arg232His)
|
rs767940514
|
0.00001
|
NM_022489.4(INF2):c.706C>G (p.Leu236Val)
|
rs774921607
|
0.00001
|
NM_022489.4(INF2):c.717C>T (p.Ala239=)
|
rs750808868
|
0.00001
|
NM_022489.4(INF2):c.733C>G (p.Leu245Val)
|
rs765986755
|
0.00001
|
NM_022489.4(INF2):c.745G>A (p.Glu249Lys)
|
rs375843743
|
0.00001
|
NM_022489.4(INF2):c.765C>T (p.Asp255=)
|
rs758423191
|
0.00001
|
NM_022489.4(INF2):c.76A>C (p.Thr26Pro)
|
rs1889488972
|
0.00001
|
NM_022489.4(INF2):c.782G>A (p.Arg261Gln)
|
rs749543418
|
0.00001
|
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
|
rs1364540701
|
0.00001
|
NM_022489.4(INF2):c.792C>T (p.Gly264=)
|
rs768718406
|
0.00001
|
NM_022489.4(INF2):c.799G>A (p.Asp267Asn)
|
rs772599038
|
0.00001
|
NM_022489.4(INF2):c.807C>T (p.Ser269=)
|
rs1889769993
|
0.00001
|
NM_022489.4(INF2):c.839A>G (p.His280Arg)
|
rs759115381
|
0.00001
|
NM_022489.4(INF2):c.844-11C>T
|
rs1413093278
|
0.00001
|
NM_022489.4(INF2):c.850T>C (p.Cys284Arg)
|
rs374935145
|
0.00001
|
NM_022489.4(INF2):c.858G>A (p.Pro286=)
|
rs762527373
|
0.00001
|
NM_022489.4(INF2):c.986-14A>G
|
rs774186716
|
0.00001
|
NM_022489.4(INF2):c.986-9C>G
|
rs761206810
|
0.00001
|
NM_022489.4(INF2):c.990G>A (p.Gln330=)
|
rs1454095905
|
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.1006A>G (p.Arg336Gly)
|
rs781032352
|
0.00001
|
NM_024577.4(SH3TC2):c.1029T>C (p.Asp343=)
|
rs779061354
|
0.00001
|
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln)
|
rs1450931349
|
0.00001
|
NM_024577.4(SH3TC2):c.1135+15T>G
|
rs765853048
|
0.00001
|
NM_024577.4(SH3TC2):c.1140G>C (p.Gly380=)
|
rs768932852
|
0.00001
|
NM_024577.4(SH3TC2):c.1177+14A>G
|
rs1217015867
|
0.00001
|
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr)
|
rs763564639
|
0.00001
|
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe)
|
rs562967549
|
0.00001
|
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile)
|
rs761907624
|
0.00001
|
NM_024577.4(SH3TC2):c.122A>G (p.Lys41Arg)
|
rs759096245
|
0.00001
|
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159
|
0.00001
|
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg)
|
rs766814812
|
0.00001
|
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe)
|
rs754865697
|
0.00001
|
NM_024577.4(SH3TC2):c.1287G>A (p.Glu429=)
|
rs1237348677
|
0.00001
|
NM_024577.4(SH3TC2):c.1305C>T (p.Thr435=)
|
rs774971119
|
0.00001
|
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=)
|
rs749587305
|
0.00001
|
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His)
|
rs755748579
|
0.00001
|
NM_024577.4(SH3TC2):c.1320C>A (p.Arg440=)
|
rs1361033420
|
0.00001
|
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu)
|
rs370613184
|
0.00001
|
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu)
|
rs1234203055
|
0.00001
|
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro)
|
rs1235312791
|
0.00001
|
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp)
|
rs1326032447
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321
|
0.00001
|
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs757167683
|
0.00001
|
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys)
|
rs751644174
|
0.00001
|
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys)
|
rs763417948
|
0.00001
|
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala)
|
rs372841815
|
0.00001
|
NM_024577.4(SH3TC2):c.151+11G>A
|
rs773004267
|
0.00001
|
NM_024577.4(SH3TC2):c.152-14C>G
|
rs1019701436
|
0.00001
|
NM_024577.4(SH3TC2):c.152-8T>A
|
rs1350673664
|
0.00001
|
NM_024577.4(SH3TC2):c.1584C>T (p.Ala528=)
|
rs762967613
|
0.00001
|
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)
|
rs750529207
|
0.00001
|
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp)
|
rs777043032
|
0.00001
|
NM_024577.4(SH3TC2):c.1632C>G (p.Leu544=)
|
rs771050155
|
0.00001
|
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr)
|
rs1324539774
|
0.00001
|
NM_024577.4(SH3TC2):c.1641C>T (p.Ala547=)
|
rs1265312422
|
0.00001
|
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720
|
0.00001
|
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val)
|
rs760899669
|
0.00001
|
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn)
|
rs1436597179
|
0.00001
|
NM_024577.4(SH3TC2):c.182G>A (p.Arg61His)
|
rs376389928
|
0.00001
|
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg)
|
rs1252838387
|
0.00001
|
NM_024577.4(SH3TC2):c.183C>T (p.Arg61=)
|
rs1754494929
|
0.00001
|
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn)
|
rs201789838
|
0.00001
|
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala)
|
rs779061678
|
0.00001
|
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578
|
0.00001
|
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr)
|
rs781671812
|
0.00001
|
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)
|
rs1554121665
|
0.00001
|
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394
|
0.00001
|
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys)
|
rs763952745
|
0.00001
|
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr)
|
rs1329516289
|
0.00001
|
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu)
|
rs770170997
|
0.00001
|
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)
|
rs864622663
|
0.00001
|
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=)
|
rs763652479
|
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.2247A>G (p.Glu749=)
|
rs375251955
|
0.00001
|
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)
|
rs749772988
|
0.00001
|
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu)
|
rs897500539
|
0.00001
|
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192
|
0.00001
|
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg)
|
rs926165676
|
0.00001
|
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln)
|
rs756666549
|
0.00001
|
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs1416387782
|
0.00001
|
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe)
|
rs754938951
|
0.00001
|
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr)
|
rs377434575
|
0.00001
|
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg)
|
rs1554121601
|
0.00001
|
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg)
|
rs768389060
|
0.00001
|
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys)
|
rs202139757
|
0.00001
|
NM_024577.4(SH3TC2):c.2520C>T (p.Asn840=)
|
rs371588176
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu)
|
rs1463859150
|
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.2607G>A (p.Val869=)
|
rs771752979
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024577.4(SH3TC2):c.264G>A (p.Val88=)
|
rs1337938229
|
0.00001
|
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val)
|
rs1232735360
|
0.00001
|
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter)
|
rs757701609
|
0.00001
|
NM_024577.4(SH3TC2):c.279+1G>A
|
rs1198337036
|
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.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+13C>T
|
rs1424568850
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+19G>T
|
rs569935040
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+20C>T
|
rs372528082
|
0.00001
|
NM_024577.4(SH3TC2):c.2873-16C>T
|
rs1387099711
|
0.00001
|
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)
|
rs1220087441
|
0.00001
|
NM_024577.4(SH3TC2):c.2907C>T (p.Phe969=)
|
rs1238822178
|
0.00001
|
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg)
|
rs978452363
|
0.00001
|
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556
|
0.00001
|
NM_024577.4(SH3TC2):c.3048C>T (p.Thr1016=)
|
rs375266719
|
0.00001
|
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val)
|
rs794727104
|
0.00001
|
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala)
|
rs777209545
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val)
|
rs570067509
|
0.00001
|
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe)
|
rs772753479
|
0.00001
|
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr)
|
rs769133498
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+17G>A
|
rs377068951
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+6C>T
|
rs763394102
|
0.00001
|
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val)
|
rs1753764548
|
0.00001
|
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg)
|
rs750149369
|
0.00001
|
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu)
|
rs1248817393
|
0.00001
|
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp)
|
rs1228973233
|
0.00001
|
NM_024577.4(SH3TC2):c.3295C>T (p.Arg1099Cys)
|
rs769907612
|
0.00001
|
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
|
rs748413646
|
0.00001
|
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg)
|
rs780363659
|
0.00001
|
NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met)
|
rs750746661
|
0.00001
|
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053
|
0.00001
|
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala)
|
rs757935041
|
0.00001
|
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly)
|
rs1169028062
|
0.00001
|
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val)
|
rs913598475
|
0.00001
|
NM_024577.4(SH3TC2):c.3417C>T (p.Leu1139=)
|
rs367649953
|
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.3526T>G (p.Tyr1176Asp)
|
rs777028943
|
0.00001
|
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
|
rs747405272
|
0.00001
|
NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn)
|
rs201876002
|
0.00001
|
NM_024577.4(SH3TC2):c.3546T>C (p.Tyr1182=)
|
rs757190448
|
0.00001
|
NM_024577.4(SH3TC2):c.3549G>A (p.Glu1183=)
|
rs749235873
|
0.00001
|
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)
|
rs761972717
|
0.00001
|
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)
|
rs1248359114
|
0.00001
|
NM_024577.4(SH3TC2):c.3676-15A>G
|
rs770644656
|
0.00001
|
NM_024577.4(SH3TC2):c.3681C>T (p.Ala1227=)
|
rs760036395
|
0.00001
|
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr)
|
rs1371380897
|
0.00001
|
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val)
|
rs778953792
|
0.00001
|
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=)
|
rs777895612
|
0.00001
|
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
|
rs1754425732
|
0.00001
|
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly)
|
rs765921861
|
0.00001
|
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys)
|
rs1229941957
|
0.00001
|
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs781625125
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)
|
rs776623792
|
0.00001
|
NM_024577.4(SH3TC2):c.429G>A (p.Lys143=)
|
rs748964376
|
0.00001
|
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr)
|
rs1483097983
|
0.00001
|
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe)
|
rs542260900
|
0.00001
|
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg)
|
rs1754392249
|
0.00001
|
NM_024577.4(SH3TC2):c.529+1G>A
|
rs769410348
|
0.00001
|
NM_024577.4(SH3TC2):c.53-3C>T
|
rs771541595
|
0.00001
|
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768
|
0.00001
|
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg)
|
rs778863028
|
0.00001
|
NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys)
|
rs755054839
|
0.00001
|
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg)
|
rs569256459
|
0.00001
|
NM_024577.4(SH3TC2):c.579G>A (p.Lys193=)
|
rs752087220
|
0.00001
|
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile)
|
rs368872316
|
0.00001
|
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr)
|
rs1472681520
|
0.00001
|
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly)
|
rs774120657
|
0.00001
|
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys)
|
rs867509336
|
0.00001
|
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=)
|
rs781321213
|
0.00001
|
NM_024577.4(SH3TC2):c.658G>A (p.Val220Met)
|
rs1428903431
|
0.00001
|
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln)
|
rs1257812868
|
0.00001
|
NM_024577.4(SH3TC2):c.702C>T (p.Ala234=)
|
rs1242725383
|
0.00001
|
NM_024577.4(SH3TC2):c.708G>A (p.Glu236=)
|
rs774923539
|
0.00001
|
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg)
|
rs1210345750
|
0.00001
|
NM_024577.4(SH3TC2):c.732-16A>G
|
rs201017707
|
0.00001
|
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val)
|
rs772820273
|
0.00001
|
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu)
|
rs755164059
|
0.00001
|
NM_024577.4(SH3TC2):c.789A>G (p.Thr263=)
|
rs780777249
|
0.00001
|
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter)
|
rs377509077
|
0.00001
|
NM_024577.4(SH3TC2):c.806-2A>G
|
rs1041389207
|
0.00001
|
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His)
|
rs746737375
|
0.00001
|
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu)
|
rs1399431033
|
0.00001
|
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875
|
0.00001
|
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=)
|
rs773193703
|
0.00001
|
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys)
|
rs748663288
|
0.00001
|
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn)
|
rs765890403
|
0.00001
|
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val)
|
rs745345448
|
0.00001
|
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu)
|
rs753884201
|
0.00001
|
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
|
rs144520038
|
0.00001
|
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455
|
0.00001
|
NM_030962.4(SBF2):c.1025G>A (p.Arg342Gln)
|
rs954771068
|
0.00001
|
NM_030962.4(SBF2):c.1050G>A (p.Met350Ile)
|
rs1947549366
|
0.00001
|
NM_030962.4(SBF2):c.1053+8G>A
|
rs779888479
|
0.00001
|
NM_030962.4(SBF2):c.1061A>C (p.Glu354Ala)
|
rs761829741
|
0.00001
|
NM_030962.4(SBF2):c.1062G>A (p.Glu354=)
|
rs376956314
|
0.00001
|
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)
|
rs1032796987
|
0.00001
|
NM_030962.4(SBF2):c.1071C>T (p.Ala357=)
|
rs775272908
|
0.00001
|
NM_030962.4(SBF2):c.1083A>G (p.Arg361=)
|
rs1362168505
|
0.00001
|
NM_030962.4(SBF2):c.109G>C (p.Asp37His)
|
rs759977048
|
0.00001
|
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg)
|
rs770153492
|
0.00001
|
NM_030962.4(SBF2):c.1158T>G (p.His386Gln)
|
rs780071398
|
0.00001
|
NM_030962.4(SBF2):c.1163A>G (p.His388Arg)
|
rs1397329019
|
0.00001
|
NM_030962.4(SBF2):c.1167+20T>C
|
rs1947507309
|
0.00001
|
NM_030962.4(SBF2):c.1168-10T>C
|
rs769153339
|
0.00001
|
NM_030962.4(SBF2):c.118C>T (p.Pro40Ser)
|
rs1194397200
|
0.00001
|
NM_030962.4(SBF2):c.1222C>T (p.Leu408Phe)
|
rs1220835376
|
0.00001
|
NM_030962.4(SBF2):c.1226G>T (p.Ser409Ile)
|
rs1183650459
|
0.00001
|
NM_030962.4(SBF2):c.1236A>G (p.Ala412=)
|
rs1947481198
|
0.00001
|
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr)
|
rs759009170
|
0.00001
|
NM_030962.4(SBF2):c.1296+12A>G
|
rs762099135
|
0.00001
|
NM_030962.4(SBF2):c.1296+7C>T
|
rs774033750
|
0.00001
|
NM_030962.4(SBF2):c.1316A>T (p.Glu439Val)
|
rs754505342
|
0.00001
|
NM_030962.4(SBF2):c.1337A>G (p.Asn446Ser)
|
rs762615474
|
0.00001
|
NM_030962.4(SBF2):c.1345G>C (p.Val449Leu)
|
rs1441833591
|
0.00001
|
NM_030962.4(SBF2):c.1386A>G (p.Leu462=)
|
rs774591496
|
0.00001
|
NM_030962.4(SBF2):c.141+5G>A
|
rs1284700305
|
0.00001
|
NM_030962.4(SBF2):c.141+9T>A
|
rs760322801
|
0.00001
|
NM_030962.4(SBF2):c.142-20T>G
|
rs748235053
|
0.00001
|
NM_030962.4(SBF2):c.1460G>A (p.Arg487Gln)
|
rs538390886
|
0.00001
|
NM_030962.4(SBF2):c.1582C>G (p.Pro528Ala)
|
rs745328047
|
0.00001
|
NM_030962.4(SBF2):c.1584A>G (p.Pro528=)
|
rs778311686
|
0.00001
|
NM_030962.4(SBF2):c.1593A>G (p.Pro531=)
|
rs1245602198
|
0.00001
|
NM_030962.4(SBF2):c.1594C>T (p.Pro532Ser)
|
rs1001858508
|
0.00001
|
NM_030962.4(SBF2):c.1598T>C (p.Val533Ala)
|
rs756897983
|
0.00001
|
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu)
|
rs542028180
|
0.00001
|
NM_030962.4(SBF2):c.1610T>C (p.Met537Thr)
|
rs1278738726
|
0.00001
|
NM_030962.4(SBF2):c.1635C>T (p.Asn545=)
|
rs1160157353
|
0.00001
|
NM_030962.4(SBF2):c.1653A>G (p.Glu551=)
|
rs942849510
|
0.00001
|
NM_030962.4(SBF2):c.1725A>C (p.Ala575=)
|
rs144514407
|
0.00001
|
NM_030962.4(SBF2):c.1770T>C (p.Asp590=)
|
rs149269991
|
0.00001
|
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln)
|
rs185968327
|
0.00001
|
NM_030962.4(SBF2):c.1815T>C (p.His605=)
|
rs1388471263
|
0.00001
|
NM_030962.4(SBF2):c.1839G>A (p.Arg613=)
|
rs776414901
|
0.00001
|
NM_030962.4(SBF2):c.1847A>G (p.Asn616Ser)
|
rs1043801815
|
0.00001
|
NM_030962.4(SBF2):c.1852A>G (p.Thr618Ala)
|
rs779355592
|
0.00001
|
NM_030962.4(SBF2):c.1854T>G (p.Thr618=)
|
rs1224103000
|
0.00001
|
NM_030962.4(SBF2):c.1860+12T>C
|
rs375954445
|
0.00001
|
NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter)
|
rs1433023728
|
0.00001
|
NM_030962.4(SBF2):c.1893C>T (p.Ala631=)
|
rs760154688
|
0.00001
|
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr)
|
rs775198025
|
0.00001
|
NM_030962.4(SBF2):c.1902A>T (p.Leu634Phe)
|
rs1861220165
|
0.00001
|
NM_030962.4(SBF2):c.192G>A (p.Thr64=)
|
rs763363470
|
0.00001
|
NM_030962.4(SBF2):c.1964C>T (p.Thr655Met)
|
rs777190196
|
0.00001
|
NM_030962.4(SBF2):c.2024A>G (p.Asn675Ser)
|
rs375407366
|
0.00001
|
NM_030962.4(SBF2):c.20_21del (p.Tyr7fs)
|
rs1270869520
|
0.00001
|
NM_030962.4(SBF2):c.2100+7G>A
|
rs370918433
|
0.00001
|
NM_030962.4(SBF2):c.2101G>A (p.Asp701Asn)
|
rs746473762
|
0.00001
|
NM_030962.4(SBF2):c.2113G>A (p.Asp705Asn)
|
rs1388585918
|
0.00001
|
NM_030962.4(SBF2):c.2155G>A (p.Glu719Lys)
|
rs149162783
|
0.00001
|
NM_030962.4(SBF2):c.2165G>A (p.Arg722His)
|
rs768079951
|
0.00001
|
NM_030962.4(SBF2):c.2181G>A (p.Leu727=)
|
rs1376193402
|
0.00001
|
NM_030962.4(SBF2):c.2254A>G (p.Asn752Asp)
|
rs775455068
|
0.00001
|
NM_030962.4(SBF2):c.2259C>T (p.Leu753=)
|
rs771467991
|
0.00001
|
NM_030962.4(SBF2):c.2269C>T (p.Leu757=)
|
rs370321615
|
0.00001
|
NM_030962.4(SBF2):c.2283C>T (p.Leu761=)
|
rs781716972
|
0.00001
|
NM_030962.4(SBF2):c.2284G>A (p.Asp762Asn)
|
rs929805760
|
0.00001
|
NM_030962.4(SBF2):c.230G>A (p.Arg77Gln)
|
rs747102118
|
0.00001
|
NM_030962.4(SBF2):c.2318C>T (p.Ala773Val)
|
rs750527598
|
0.00001
|
NM_030962.4(SBF2):c.2338G>A (p.Gly780Arg)
|
rs775404093
|
0.00001
|
NM_030962.4(SBF2):c.2388C>G (p.Ser796Arg)
|
rs1857121600
|
0.00001
|
NM_030962.4(SBF2):c.2394T>C (p.Asp798=)
|
rs767309728
|
0.00001
|
NM_030962.4(SBF2):c.2431A>G (p.Ile811Val)
|
rs764765082
|
0.00001
|
NM_030962.4(SBF2):c.2447T>C (p.Val816Ala)
|
rs982821887
|
0.00001
|
NM_030962.4(SBF2):c.2492G>A (p.Gly831Glu)
|
rs770201190
|
0.00001
|
NM_030962.4(SBF2):c.2516G>C (p.Ser839Thr)
|
rs1060500002
|
0.00001
|
NM_030962.4(SBF2):c.2523T>C (p.His841=)
|
rs143617524
|
0.00001
|
NM_030962.4(SBF2):c.2546C>T (p.Ala849Val)
|
rs751319241
|
0.00001
|
NM_030962.4(SBF2):c.2579G>A (p.Arg860Gln)
|
rs1210393129
|
0.00001
|
NM_030962.4(SBF2):c.2610+11A>G
|
rs375912268
|
0.00001
|
NM_030962.4(SBF2):c.2619T>C (p.Ile873=)
|
rs1168090388
|
0.00001
|
NM_030962.4(SBF2):c.2662G>A (p.Gly888Ser)
|
rs369589966
|
0.00001
|
NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter)
|
rs1413469900
|
0.00001
|
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln)
|
rs755699993
|
0.00001
|
NM_030962.4(SBF2):c.2681A>G (p.Asp894Gly)
|
rs552340604
|
0.00001
|
NM_030962.4(SBF2):c.2704A>G (p.Thr902Ala)
|
rs376463609
|
0.00001
|
NM_030962.4(SBF2):c.2716C>A (p.Leu906Ile)
|
rs760903950
|
0.00001
|
NM_030962.4(SBF2):c.2776C>A (p.Leu926Ile)
|
rs1193714532
|
0.00001
|
NM_030962.4(SBF2):c.2804T>C (p.Leu935Ser)
|
rs751248866
|
0.00001
|
NM_030962.4(SBF2):c.2806+20C>T
|
rs760777294
|
0.00001
|
NM_030962.4(SBF2):c.2807-10C>G
|
rs1392834610
|
0.00001
|
NM_030962.4(SBF2):c.2819C>T (p.Thr940Ile)
|
rs756720332
|
0.00001
|
NM_030962.4(SBF2):c.2872A>G (p.Met958Val)
|
rs901770002
|
0.00001
|
NM_030962.4(SBF2):c.2882A>G (p.Gln961Arg)
|
rs776603587
|
0.00001
|
NM_030962.4(SBF2):c.2934+7A>C
|
rs1475155503
|
0.00001
|
NM_030962.4(SBF2):c.2935-3T>A
|
rs202116086
|
0.00001
|
NM_030962.4(SBF2):c.2963T>G (p.Val988Gly)
|
rs778766567
|
0.00001
|
NM_030962.4(SBF2):c.3011G>A (p.Arg1004His)
|
rs1157037356
|
0.00001
|
NM_030962.4(SBF2):c.3040G>A (p.Ala1014Thr)
|
rs1404127728
|
0.00001
|
NM_030962.4(SBF2):c.3082A>G (p.Lys1028Glu)
|
rs929108873
|
0.00001
|
NM_030962.4(SBF2):c.3086A>G (p.Gln1029Arg)
|
rs1297679145
|
0.00001
|
NM_030962.4(SBF2):c.30G>A (p.Val10=)
|
rs1398535918
|
0.00001
|
NM_030962.4(SBF2):c.3110+5G>T
|
rs898995159
|
0.00001
|
NM_030962.4(SBF2):c.3155A>G (p.Lys1052Arg)
|
rs556594133
|
0.00001
|
NM_030962.4(SBF2):c.3165T>C (p.Ile1055=)
|
rs1478321308
|
0.00001
|
NM_030962.4(SBF2):c.3189G>A (p.Lys1063=)
|
rs889481914
|
0.00001
|
NM_030962.4(SBF2):c.318G>A (p.Val106=)
|
rs757678568
|
0.00001
|
NM_030962.4(SBF2):c.3203T>G (p.Ile1068Ser)
|
rs765970008
|
0.00001
|
NM_030962.4(SBF2):c.3257-10A>T
|
rs1348371983
|
0.00001
|
NM_030962.4(SBF2):c.3277C>T (p.Pro1093Ser)
|
rs953467120
|
0.00001
|
NM_030962.4(SBF2):c.3278C>T (p.Pro1093Leu)
|
rs762973514
|
0.00001
|
NM_030962.4(SBF2):c.3304G>A (p.Glu1102Lys)
|
rs778262784
|
0.00001
|
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val)
|
rs753427715
|
0.00001
|
NM_030962.4(SBF2):c.3436A>T (p.Met1146Leu)
|
rs377277274
|
0.00001
|
NM_030962.4(SBF2):c.3445C>T (p.Leu1149Phe)
|
rs766709811
|
0.00001
|
NM_030962.4(SBF2):c.3451C>T (p.Arg1151Trp)
|
rs140550985
|
0.00001
|
NM_030962.4(SBF2):c.3452G>A (p.Arg1151Gln)
|
rs750893713
|
0.00001
|
NM_030962.4(SBF2):c.3466C>T (p.Leu1156Phe)
|
rs1433995523
|
0.00001
|
NM_030962.4(SBF2):c.3474C>T (p.Val1158=)
|
rs376295625
|
0.00001
|
NM_030962.4(SBF2):c.350C>G (p.Ala117Gly)
|
rs767514383
|
0.00001
|
NM_030962.4(SBF2):c.3517C>T (p.Arg1173Cys)
|
rs779290368
|
0.00001
|
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His)
|
rs757577170
|
0.00001
|
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)
|
rs774667470
|
0.00001
|
NM_030962.4(SBF2):c.3527G>A (p.Arg1176Gln)
|
rs185264589
|
0.00001
|
NM_030962.4(SBF2):c.354C>T (p.Pro118=)
|
rs371771984
|
0.00001
|
NM_030962.4(SBF2):c.3565A>G (p.Arg1189Gly)
|
rs769777008
|
0.00001
|
NM_030962.4(SBF2):c.3598T>C (p.Phe1200Leu)
|
rs749729139
|
0.00001
|
NM_030962.4(SBF2):c.3615C>T (p.Val1205=)
|
rs751734412
|
0.00001
|
NM_030962.4(SBF2):c.3651C>T (p.Ala1217=)
|
rs550913752
|
0.00001
|
NM_030962.4(SBF2):c.3652+15A>G
|
rs367955902
|
0.00001
|
NM_030962.4(SBF2):c.3652G>A (p.Ala1218Thr)
|
rs763594624
|
0.00001
|
NM_030962.4(SBF2):c.3653-1G>A
|
rs145183196
|
0.00001
|
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala)
|
rs753811515
|
0.00001
|
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser)
|
rs760210827
|
0.00001
|
NM_030962.4(SBF2):c.3679A>G (p.Ser1227Gly)
|
rs368618956
|
0.00001
|
NM_030962.4(SBF2):c.3680G>C (p.Ser1227Thr)
|
rs1261598853
|
0.00001
|
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr)
|
rs1443759629
|
0.00001
|
NM_030962.4(SBF2):c.3731T>C (p.Val1244Ala)
|
rs757063919
|
0.00001
|
NM_030962.4(SBF2):c.3762T>G (p.Leu1254=)
|
rs776896848
|
0.00001
|
NM_030962.4(SBF2):c.3770G>A (p.Arg1257Lys)
|
rs775982886
|
0.00001
|
NM_030962.4(SBF2):c.3794-19G>A
|
rs779377326
|
0.00001
|
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys)
|
rs765001700
|
0.00001
|
NM_030962.4(SBF2):c.3814T>A (p.Ser1272Thr)
|
rs760386811
|
0.00001
|
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys)
|
rs956737183
|
0.00001
|
NM_030962.4(SBF2):c.3876C>A (p.Gly1292=)
|
rs778401534
|
0.00001
|
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)
|
rs767811228
|
0.00001
|
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu)
|
rs200167746
|
0.00001
|
NM_030962.4(SBF2):c.3968C>T (p.Ser1323Leu)
|
rs369288449
|
0.00001
|
NM_030962.4(SBF2):c.3979-20C>A
|
rs1176068872
|
0.00001
|
NM_030962.4(SBF2):c.402+5A>G
|
rs1060503800
|
0.00001
|
NM_030962.4(SBF2):c.4051G>A (p.Ala1351Thr)
|
rs527347035
|
0.00001
|
NM_030962.4(SBF2):c.4102G>A (p.Asp1368Asn)
|
rs144063037
|
0.00001
|
NM_030962.4(SBF2):c.4113G>A (p.Val1371=)
|
rs1195911510
|
0.00001
|
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr)
|
rs753564262
|
0.00001
|
NM_030962.4(SBF2):c.4119C>T (p.Phe1373=)
|
rs772473795
|
0.00001
|
NM_030962.4(SBF2):c.4120C>G (p.Leu1374Val)
|
rs746286799
|
0.00001
|
NM_030962.4(SBF2):c.4123A>G (p.Lys1375Glu)
|
rs1217139040
|
0.00001
|
NM_030962.4(SBF2):c.4138T>A (p.Ser1380Thr)
|
rs1564876099
|
0.00001
|
NM_030962.4(SBF2):c.413G>C (p.Gly138Ala)
|
rs1949191748
|
0.00001
|
NM_030962.4(SBF2):c.4156-12C>G
|
rs779854941
|
0.00001
|
NM_030962.4(SBF2):c.4156-15C>T
|
rs746693765
|
0.00001
|
NM_030962.4(SBF2):c.4156-5C>G
|
rs966658773
|
0.00001
|
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val)
|
rs771436343
|
0.00001
|
NM_030962.4(SBF2):c.4180G>C (p.Val1394Leu)
|
rs142029000
|
0.00001
|
NM_030962.4(SBF2):c.4186G>A (p.Val1396Ile)
|
rs751799091
|
0.00001
|
NM_030962.4(SBF2):c.4204A>C (p.Asn1402His)
|
rs1590132478
|
0.00001
|
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr)
|
rs370601742
|
0.00001
|
NM_030962.4(SBF2):c.4258-4C>G
|
rs757097139
|
0.00001
|
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=)
|
rs763445946
|
0.00001
|
NM_030962.4(SBF2):c.427G>A (p.Val143Met)
|
rs142469360
|
0.00001
|
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser)
|
rs1312716983
|
0.00001
|
NM_030962.4(SBF2):c.4335G>A (p.Glu1445=)
|
rs1370306059
|
0.00001
|
NM_030962.4(SBF2):c.4373G>A (p.Ser1458Asn)
|
rs1343934459
|
0.00001
|
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=)
|
rs1347990916
|
0.00001
|
NM_030962.4(SBF2):c.4443+20G>A
|
rs370632930
|
0.00001
|
NM_030962.4(SBF2):c.4443+6T>C
|
rs1450773584
|
0.00001
|
NM_030962.4(SBF2):c.444del (p.Asn149fs)
|
rs1295003959
|
0.00001
|
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)
|
rs1590103742
|
0.00001
|
NM_030962.4(SBF2):c.446A>G (p.Asn149Ser)
|
rs1337725457
|
0.00001
|
NM_030962.4(SBF2):c.4509C>T (p.His1503=)
|
rs138816399
|
0.00001
|
NM_030962.4(SBF2):c.4570+11G>A
|
rs370065558
|
0.00001
|
NM_030962.4(SBF2):c.4640G>A (p.Arg1547Lys)
|
rs200338241
|
0.00001
|
NM_030962.4(SBF2):c.4659C>T (p.Pro1553=)
|
rs368478401
|
0.00001
|
NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu)
|
rs189911105
|
0.00001
|
NM_030962.4(SBF2):c.474C>G (p.Asn158Lys)
|
rs745535685
|
0.00001
|
NM_030962.4(SBF2):c.4795C>T (p.Leu1599=)
|
rs926646414
|
0.00001
|
NM_030962.4(SBF2):c.4808A>G (p.His1603Arg)
|
rs757498268
|
0.00001
|
NM_030962.4(SBF2):c.4818C>T (p.Ser1606=)
|
rs760444889
|
0.00001
|
NM_030962.4(SBF2):c.4920C>T (p.Thr1640=)
|
rs1222175198
|
0.00001
|
NM_030962.4(SBF2):c.4932+5G>A
|
rs764275849
|
0.00001
|
NM_030962.4(SBF2):c.5005G>A (p.Val1669Met)
|
rs757185849
|
0.00001
|
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys)
|
rs79401259
|
0.00001
|
NM_030962.4(SBF2):c.504A>T (p.Gly168=)
|
rs781537575
|
0.00001
|
NM_030962.4(SBF2):c.5055G>A (p.Ser1685=)
|
rs375798441
|
0.00001
|
NM_030962.4(SBF2):c.5064A>G (p.Pro1688=)
|
rs766646551
|
0.00001
|
NM_030962.4(SBF2):c.5073G>T (p.Val1691=)
|
rs373722394
|
0.00001
|
NM_030962.4(SBF2):c.5137G>C (p.Glu1713Gln)
|
rs1852290948
|
0.00001
|
NM_030962.4(SBF2):c.5150C>T (p.Ser1717Phe)
|
rs1428957767
|
0.00001
|
NM_030962.4(SBF2):c.5168A>G (p.Asn1723Ser)
|
rs752274961
|
0.00001
|
NM_030962.4(SBF2):c.5180G>A (p.Arg1727Gln)
|
rs765612411
|
0.00001
|
NM_030962.4(SBF2):c.5193G>A (p.Thr1731=)
|
rs764147377
|
0.00001
|
NM_030962.4(SBF2):c.5231+19C>T
|
rs1250788397
|
0.00001
|
NM_030962.4(SBF2):c.5245A>G (p.Thr1749Ala)
|
rs1288312315
|
0.00001
|
NM_030962.4(SBF2):c.5247A>G (p.Thr1749=)
|
rs1257156187
|
0.00001
|
NM_030962.4(SBF2):c.5286C>T (p.Pro1762=)
|
rs138850562
|
0.00001
|
NM_030962.4(SBF2):c.5288G>A (p.Arg1763His)
|
rs770839463
|
0.00001
|
NM_030962.4(SBF2):c.5319+18A>C
|
rs577375809
|
0.00001
|
NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys)
|
rs938347502
|
0.00001
|
NM_030962.4(SBF2):c.5324G>A (p.Arg1775His)
|
rs574665066
|
0.00001
|
NM_030962.4(SBF2):c.5330A>G (p.Tyr1777Cys)
|
rs185926762
|
0.00001
|
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)
|
rs746542104
|
0.00001
|
NM_030962.4(SBF2):c.5399C>T (p.Ala1800Val)
|
rs745534248
|
0.00001
|
NM_030962.4(SBF2):c.5452-14A>G
|
rs745519807
|
0.00001
|
NM_030962.4(SBF2):c.5452-5T>C
|
rs773935983
|
0.00001
|
NM_030962.4(SBF2):c.546G>T (p.Gln182His)
|
rs886047534
|
0.00001
|
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr)
|
rs146064484
|
0.00001
|
NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr)
|
rs750660963
|
0.00001
|
NM_030962.4(SBF2):c.55+9G>T
|
rs1449265617
|
0.00001
|
NM_030962.4(SBF2):c.586G>A (p.Gly196Ser)
|
rs150725040
|
0.00001
|
NM_030962.4(SBF2):c.620-9T>C
|
rs199676895
|
0.00001
|
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys)
|
rs749815764
|
0.00001
|
NM_030962.4(SBF2):c.670G>A (p.Val224Ile)
|
rs1209039793
|
0.00001
|
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly)
|
rs1441387053
|
0.00001
|
NM_030962.4(SBF2):c.72G>T (p.Leu24=)
|
rs1352614927
|
0.00001
|
NM_030962.4(SBF2):c.756T>C (p.Tyr252=)
|
rs764753779
|
0.00001
|
NM_030962.4(SBF2):c.761A>G (p.Tyr254Cys)
|
rs1947932613
|
0.00001
|
NM_030962.4(SBF2):c.763A>G (p.Ile255Val)
|
rs1259744769
|
0.00001
|
NM_030962.4(SBF2):c.769A>G (p.Ile257Val)
|
rs756866661
|
0.00001
|
NM_030962.4(SBF2):c.811C>A (p.Pro271Thr)
|
rs1044734721
|
0.00001
|
NM_030962.4(SBF2):c.812C>G (p.Pro271Arg)
|
rs1223197381
|
0.00001
|
NM_030962.4(SBF2):c.822T>C (p.Ile274=)
|
rs776897720
|
0.00001
|
NM_030962.4(SBF2):c.830A>C (p.His277Pro)
|
rs1284766357
|
0.00001
|
NM_030962.4(SBF2):c.854A>G (p.His285Arg)
|
rs146971151
|
0.00001
|
NM_030962.4(SBF2):c.861+7A>G
|
rs546454057
|
0.00001
|
NM_030962.4(SBF2):c.869T>G (p.Val290Gly)
|
rs771827174
|
0.00001
|
NM_030962.4(SBF2):c.87G>C (p.Gln29His)
|
rs751336040
|
0.00001
|
NM_030962.4(SBF2):c.8G>A (p.Arg3Gln)
|
rs1964355306
|
0.00001
|
NM_030962.4(SBF2):c.90A>G (p.Arg30=)
|
rs551470384
|
0.00001
|
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg)
|
rs758820956
|
0.00001
|
NM_030962.4(SBF2):c.925T>G (p.Ser309Ala)
|
rs1300253311
|
0.00001
|
NM_030962.4(SBF2):c.936A>G (p.Pro312=)
|
rs765770300
|
0.00001
|
NM_030973.4(MED25):c.1003G>A (p.Ala335Thr)
|
rs1018204701
|
0.00001
|
NM_030973.4(MED25):c.1006C>T (p.Pro336Ser)
|
rs780177056
|
0.00001
|
NM_030973.4(MED25):c.1039G>C (p.Val347Leu)
|
rs146715554
|
0.00001
|
NM_030973.4(MED25):c.1047T>C (p.Thr349=)
|
rs1256377019
|
0.00001
|
NM_030973.4(MED25):c.1053C>G (p.Ala351=)
|
rs760698791
|
0.00001
|
NM_030973.4(MED25):c.1080A>C (p.Ala360=)
|
rs1378976996
|
0.00001
|
NM_030973.4(MED25):c.1086C>T (p.Pro362=)
|
rs780086993
|
0.00001
|
NM_030973.4(MED25):c.1101+1G>A
|
rs769486726
|
0.00001
|
NM_030973.4(MED25):c.1102-9C>T
|
rs747438443
|
0.00001
|
NM_030973.4(MED25):c.1103C>A (p.Ala368Glu)
|
rs769174134
|
0.00001
|
NM_030973.4(MED25):c.1103C>T (p.Ala368Val)
|
rs769174134
|
0.00001
|
NM_030973.4(MED25):c.1108A>G (p.Thr370Ala)
|
rs201553319
|
0.00001
|
NM_030973.4(MED25):c.112C>A (p.His38Asn)
|
rs1191519479
|
0.00001
|
NM_030973.4(MED25):c.1143A>G (p.Pro381=)
|
rs200571306
|
0.00001
|
NM_030973.4(MED25):c.1157C>T (p.Ala386Val)
|
rs1427321438
|
0.00001
|
NM_030973.4(MED25):c.1170T>A (p.Gly390=)
|
rs755612050
|
0.00001
|
NM_030973.4(MED25):c.117C>G (p.Tyr39Ter)
|
rs749356375
|
0.00001
|
NM_030973.4(MED25):c.1190A>G (p.Asn397Ser)
|
rs756897347
|
0.00001
|
NM_030973.4(MED25):c.1209C>T (p.Ser403=)
|
rs954895925
|
0.00001
|
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg)
|
rs1213960931
|
0.00001
|
NM_030973.4(MED25):c.1230+7G>T
|
rs1412475364
|
0.00001
|
NM_030973.4(MED25):c.1271C>T (p.Thr424Met)
|
rs2074060664
|
0.00001
|
NM_030973.4(MED25):c.1308C>T (p.Gly436=)
|
rs750031901
|
0.00001
|
NM_030973.4(MED25):c.1317-3C>T
|
rs367774572
|
0.00001
|
NM_030973.4(MED25):c.1322C>T (p.Thr441Met)
|
rs754342751
|
0.00001
|
NM_030973.4(MED25):c.135-3C>T
|
rs750459702
|
0.00001
|
NM_030973.4(MED25):c.135-4A>G
|
rs765245928
|
0.00001
|
NM_030973.4(MED25):c.135-9C>T
|
rs764466098
|
0.00001
|
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)
|
rs758524310
|
0.00001
|
NM_030973.4(MED25):c.1374+10G>A
|
rs768381941
|
0.00001
|
NM_030973.4(MED25):c.1375-20G>A
|
rs755187047
|
0.00001
|
NM_030973.4(MED25):c.1375-4G>A
|
rs372057910
|
0.00001
|
NM_030973.4(MED25):c.1375-5C>T
|
rs368189393
|
0.00001
|
NM_030973.4(MED25):c.1395C>A (p.Phe465Leu)
|
rs143046644
|
0.00001
|
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp)
|
rs759187460
|
0.00001
|
NM_030973.4(MED25):c.1437C>T (p.Asp479=)
|
rs1484444238
|
0.00001
|
NM_030973.4(MED25):c.1442A>G (p.Glu481Gly)
|
rs2074064696
|
0.00001
|
NM_030973.4(MED25):c.1455C>T (p.Gly485=)
|
rs765634152
|
0.00001
|
NM_030973.4(MED25):c.145G>T (p.Gly49Cys)
|
rs780112917
|
0.00001
|
NM_030973.4(MED25):c.1476C>T (p.Asn492=)
|
rs750836603
|
0.00001
|
NM_030973.4(MED25):c.1511C>T (p.Ala504Val)
|
rs1479368676
|
0.00001
|
NM_030973.4(MED25):c.1525C>T (p.Arg509Cys)
|
rs1418129935
|
0.00001
|
NM_030973.4(MED25):c.1527C>T (p.Arg509=)
|
rs756350936
|
0.00001
|
NM_030973.4(MED25):c.1584C>T (p.Tyr528=)
|
rs776192919
|
0.00001
|
NM_030973.4(MED25):c.1675-18C>T
|
rs2074089100
|
0.00001
|
NM_030973.4(MED25):c.1675-4G>A
|
rs1202670954
|
0.00001
|
NM_030973.4(MED25):c.1678G>C (p.Gly560Arg)
|
rs866498468
|
0.00001
|
NM_030973.4(MED25):c.16G>C (p.Glu6Gln)
|
rs755457665
|
0.00001
|
NM_030973.4(MED25):c.1746+10G>A
|
rs777447509
|
0.00001
|
NM_030973.4(MED25):c.1747-15G>C
|
rs1253524565
|
0.00001
|
NM_030973.4(MED25):c.1757G>A (p.Arg586His)
|
rs1184393042
|
0.00001
|
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs)
|
rs763039409
|
0.00001
|
NM_030973.4(MED25):c.1824A>G (p.Gln608=)
|
rs756851712
|
0.00001
|
NM_030973.4(MED25):c.1888C>A (p.Pro630Thr)
|
rs900142190
|
0.00001
|
NM_030973.4(MED25):c.1899C>T (p.Pro633=)
|
rs1225715903
|
0.00001
|
NM_030973.4(MED25):c.189G>T (p.Gly63=)
|
rs770307133
|
0.00001
|
NM_030973.4(MED25):c.1959A>G (p.Pro653=)
|
rs757384751
|
0.00001
|
NM_030973.4(MED25):c.1968G>A (p.Pro656=)
|
rs370950491
|
0.00001
|
NM_030973.4(MED25):c.1971G>A (p.Gln657=)
|
rs746754098
|
0.00001
|
NM_030973.4(MED25):c.2023G>A (p.Ala675Thr)
|
rs1448159136
|
0.00001
|
NM_030973.4(MED25):c.2042C>T (p.Pro681Leu)
|
rs974538844
|
0.00001
|
NM_030973.4(MED25):c.2043G>A (p.Pro681=)
|
rs762374581
|
0.00001
|
NM_030973.4(MED25):c.2115C>T (p.Pro705=)
|
rs542955462
|
0.00001
|
NM_030973.4(MED25):c.2116G>A (p.Ala706Thr)
|
rs762953015
|
0.00001
|
NM_030973.4(MED25):c.213C>T (p.Phe71=)
|
rs745454610
|
0.00001
|
NM_030973.4(MED25):c.2168G>A (p.Gly723Asp)
|
rs2074102870
|
0.00001
|
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
|
rs765135124
|
0.00001
|
NM_030973.4(MED25):c.2226C>T (p.Ile742=)
|
rs921978271
|
0.00001
|
NM_030973.4(MED25):c.235G>A (p.Glu79Lys)
|
rs1359745073
|
0.00001
|
NM_030973.4(MED25):c.23C>T (p.Pro8Leu)
|
rs980805046
|
0.00001
|
NM_030973.4(MED25):c.255C>T (p.His85=)
|
rs1009581878
|
0.00001
|
NM_030973.4(MED25):c.275A>T (p.Tyr92Phe)
|
rs549136898
|
0.00001
|
NM_030973.4(MED25):c.292C>T (p.Leu98Phe)
|
rs753652217
|
0.00001
|
NM_030973.4(MED25):c.295G>A (p.Asp99Asn)
|
rs778775959
|
0.00001
|
NM_030973.4(MED25):c.29G>T (p.Arg10Leu)
|
rs545524810
|
0.00001
|
NM_030973.4(MED25):c.316G>A (p.Gly106Arg)
|
rs535472885
|
0.00001
|
NM_030973.4(MED25):c.339C>T (p.Leu113=)
|
rs772212895
|
0.00001
|
NM_030973.4(MED25):c.344C>T (p.Ala115Val)
|
rs764375282
|
0.00001
|
NM_030973.4(MED25):c.384C>T (p.Phe128=)
|
rs1204577575
|
0.00001
|
NM_030973.4(MED25):c.407G>A (p.Gly136Asp)
|
rs1391030807
|
0.00001
|
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
|
rs200785685
|
0.00001
|
NM_030973.4(MED25):c.432C>A (p.Leu144=)
|
rs150534771
|
0.00001
|
NM_030973.4(MED25):c.447C>T (p.Pro149=)
|
rs543246660
|
0.00001
|
NM_030973.4(MED25):c.456G>A (p.Leu152=)
|
rs1457594431
|
0.00001
|
NM_030973.4(MED25):c.480G>A (p.Thr160=)
|
rs753591952
|
0.00001
|
NM_030973.4(MED25):c.502A>T (p.Asn168Tyr)
|
rs1189793403
|
0.00001
|
NM_030973.4(MED25):c.508G>A (p.Val170Met)
|
rs561534872
|
0.00001
|
NM_030973.4(MED25):c.525+6G>A
|
rs1012023208
|
0.00001
|
NM_030973.4(MED25):c.526-16G>A
|
rs756139455
|
0.00001
|
NM_030973.4(MED25):c.526-4A>G
|
rs1302269788
|
0.00001
|
NM_030973.4(MED25):c.556C>T (p.Arg186Trp)
|
rs776291104
|
0.00001
|
NM_030973.4(MED25):c.574C>T (p.Arg192Trp)
|
rs201157765
|
0.00001
|
NM_030973.4(MED25):c.617C>T (p.Pro206Leu)
|
rs368059409
|
0.00001
|
NM_030973.4(MED25):c.651G>A (p.Pro217=)
|
rs532875863
|
0.00001
|
NM_030973.4(MED25):c.688+20C>T
|
rs763013887
|
0.00001
|
NM_030973.4(MED25):c.751G>A (p.Ala251Thr)
|
rs775622130
|
0.00001
|
NM_030973.4(MED25):c.801C>T (p.Pro267=)
|
rs779737748
|
0.00001
|
NM_030973.4(MED25):c.820-14C>G
|
rs1252422114
|
0.00001
|
NM_030973.4(MED25):c.908-17C>T
|
rs778037401
|
0.00001
|
NM_030973.4(MED25):c.911C>T (p.Ser304Leu)
|
rs546822136
|
0.00001
|
NM_030973.4(MED25):c.912G>A (p.Ser304=)
|
rs1407395842
|
0.00001
|
NM_030973.4(MED25):c.931C>G (p.Gln311Glu)
|
rs2074049438
|
0.00001
|
NM_030973.4(MED25):c.954C>T (p.Pro318=)
|
rs554447029
|
0.00001
|
NM_030973.4(MED25):c.9C>T (p.Pro3=)
|
rs1362017240
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1011G>C (p.Leu337=)
|
rs753179748
|
0.00001
|
NM_170707.4(LMNA):c.1016C>A (p.Ala339Glu)
|
rs756538414
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile)
|
rs587777892
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
|
rs776589077
|
0.00001
|
NM_170707.4(LMNA):c.1128C>T (p.Tyr376=)
|
rs1288715374
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.1138T>C (p.Leu380=)
|
rs1215331296
|
0.00001
|
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)
|
rs878855232
|
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.1158-19T>G
|
rs1396003520
|
0.00001
|
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)
|
rs267607576
|
0.00001
|
NM_170707.4(LMNA):c.1171C>G (p.Pro391Ala)
|
rs1436409162
|
0.00001
|
NM_170707.4(LMNA):c.1182C>T (p.Thr394=)
|
rs1409406468
|
0.00001
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
NM_170707.4(LMNA):c.1186C>A (p.Gln396Lys)
|
rs1651605822
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)
|
rs267607620
|
0.00001
|
NM_170707.4(LMNA):c.1200C>T (p.Gly400=)
|
rs770727928
|
0.00001
|
NM_170707.4(LMNA):c.1210T>A (p.Ser404Thr)
|
rs1466205936
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1234G>C (p.Gly412Arg)
|
rs966050612
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)
|
rs1166140426
|
0.00001
|
NM_170707.4(LMNA):c.1280G>A (p.Arg427His)
|
rs747139279
|
0.00001
|
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)
|
rs1651628416
|
0.00001
|
NM_170707.4(LMNA):c.1284C>G (p.Ser428Arg)
|
rs368831495
|
0.00001
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)
|
rs748433620
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)
|
rs1263919141
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
NM_170707.4(LMNA):c.1380+14C>T
|
rs924435877
|
0.00001
|
NM_170707.4(LMNA):c.1380+8C>T
|
rs770058244
|
0.00001
|
NM_170707.4(LMNA):c.1381-4G>T
|
rs752880523
|
0.00001
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
NM_170707.4(LMNA):c.1389C>T (p.Ser463=)
|
rs1433379020
|
0.00001
|
NM_170707.4(LMNA):c.1397A>G (p.Asn466Ser)
|
rs1159123077
|
0.00001
|
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.147G>A (p.Val49=)
|
rs376196924
|
0.00001
|
NM_170707.4(LMNA):c.1480G>T (p.Val494Leu)
|
rs760277884
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.1488+15G>A
|
rs371380638
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.1521C>T (p.Ser507=)
|
rs1279083468
|
0.00001
|
NM_170707.4(LMNA):c.153G>T (p.Ser51=)
|
rs751886390
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_170707.4(LMNA):c.1590C>T (p.Leu530=)
|
rs747338820
|
0.00001
|
NM_170707.4(LMNA):c.1592T>A (p.Ile531Asn)
|
rs1464388906
|
0.00001
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu)
|
rs747717293
|
0.00001
|
NM_170707.4(LMNA):c.1605G>A (p.Gly535=)
|
rs769398087
|
0.00001
|
NM_170707.4(LMNA):c.1608+17C>T
|
rs759375162
|
0.00001
|
NM_170707.4(LMNA):c.1608A>G (p.Glu536=)
|
rs1651737692
|
0.00001
|
NM_170707.4(LMNA):c.1609-12T>C
|
rs267607582
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1641G>T (p.Val547=)
|
rs947366975
|
0.00001
|
NM_170707.4(LMNA):c.1645G>A (p.Val549Met)
|
rs781774834
|
0.00001
|
NM_170707.4(LMNA):c.1660G>A (p.Glu554Lys)
|
rs71630616
|
0.00001
|
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)
|
rs201936898
|
0.00001
|
NM_170707.4(LMNA):c.1680C>T (p.Asp560=)
|
rs17847249
|
0.00001
|
NM_170707.4(LMNA):c.1692C>T (p.His564=)
|
rs1215740582
|
0.00001
|
NM_170707.4(LMNA):c.1698+1G>A
|
rs1553266337
|
0.00001
|
NM_170707.4(LMNA):c.1699-10C>A
|
rs980347866
|
0.00001
|
NM_170707.4(LMNA):c.1699-15T>C
|
rs1234495387
|
0.00001
|
NM_170707.4(LMNA):c.1699-4C>T
|
rs1394491459
|
0.00001
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
NM_170707.4(LMNA):c.1699-9C>T
|
rs776616872
|
0.00001
|
NM_170707.4(LMNA):c.1728C>T (p.Pro576=)
|
rs767783294
|
0.00001
|
NM_170707.4(LMNA):c.1729G>A (p.Ala577Thr)
|
rs1439261714
|
0.00001
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1764C>T (p.Cys588=)
|
rs759016336
|
0.00001
|
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg)
|
rs372201662
|
0.00001
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_170707.4(LMNA):c.1782T>C (p.Pro594=)
|
rs1240036524
|
0.00001
|
NM_170707.4(LMNA):c.1785C>T (p.Ala595=)
|
rs748139390
|
0.00001
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
NM_170707.4(LMNA):c.1814C>T (p.Ala605Val)
|
rs1651866275
|
0.00001
|
NM_170707.4(LMNA):c.1822G>T (p.Gly608Cys)
|
rs61064130
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.1863G>A (p.Thr621=)
|
rs749999967
|
0.00001
|
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys)
|
rs140455668
|
0.00001
|
NM_170707.4(LMNA):c.1871G>A (p.Arg624His)
|
rs13768
|
0.00001
|
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)
|
rs899373360
|
0.00001
|
NM_170707.4(LMNA):c.1880G>A (p.Arg627His)
|
rs745997478
|
0.00001
|
NM_170707.4(LMNA):c.1890G>A (p.Gly630=)
|
rs770389147
|
0.00001
|
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)
|
rs951584348
|
0.00001
|
NM_170707.4(LMNA):c.1892G>A (p.Gly631Asp)
|
rs267607648
|
0.00001
|
NM_170707.4(LMNA):c.191C>A (p.Thr64Asn)
|
rs753191587
|
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.20G>A (p.Arg7Gln)
|
rs751916168
|
0.00001
|
NM_170707.4(LMNA):c.23G>A (p.Arg8His)
|
rs1329278578
|
0.00001
|
NM_170707.4(LMNA):c.240C>T (p.Ala80=)
|
rs780194620
|
0.00001
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
NM_170707.4(LMNA):c.328C>A (p.Arg110Ser)
|
rs1064797121
|
0.00001
|
NM_170707.4(LMNA):c.339T>C (p.Phe113=)
|
rs759878335
|
0.00001
|
NM_170707.4(LMNA):c.356+18G>T
|
rs764535819
|
0.00001
|
NM_170707.4(LMNA):c.357-13C>A
|
rs1264489096
|
0.00001
|
NM_170707.4(LMNA):c.357-19T>C
|
rs757689089
|
0.00001
|
NM_170707.4(LMNA):c.366G>A (p.Lys122=)
|
rs1650968214
|
0.00001
|
NM_170707.4(LMNA):c.369G>A (p.Lys123=)
|
rs367938270
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.42G>A (p.Ala14=)
|
rs777460187
|
0.00001
|
NM_170707.4(LMNA):c.439G>A (p.Ala147Thr)
|
rs139875047
|
0.00001
|
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)
|
rs58917027
|
0.00001
|
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)
|
rs760743233
|
0.00001
|
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)
|
rs267607622
|
0.00001
|
NM_170707.4(LMNA):c.477G>A (p.Glu159=)
|
rs1424758064
|
0.00001
|
NM_170707.4(LMNA):c.480C>A (p.Gly160=)
|
rs758848135
|
0.00001
|
NM_170707.4(LMNA):c.480C>T (p.Gly160=)
|
rs758848135
|
0.00001
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
NM_170707.4(LMNA):c.498G>A (p.Arg166=)
|
rs886043189
|
0.00001
|
NM_170707.4(LMNA):c.513+12C>A
|
rs756758566
|
0.00001
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
NM_170707.4(LMNA):c.540G>A (p.Lys180=)
|
rs1437725392
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_170707.4(LMNA):c.573G>A (p.Val191=)
|
rs754525930
|
0.00001
|
NM_170707.4(LMNA):c.598A>G (p.Met200Val)
|
rs777419380
|
0.00001
|
NM_170707.4(LMNA):c.606G>A (p.Glu202=)
|
rs963378138
|
0.00001
|
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)
|
rs987157491
|
0.00001
|
NM_170707.4(LMNA):c.640-10A>G
|
rs80356807
|
0.00001
|
NM_170707.4(LMNA):c.640-11A>C
|
rs727504932
|
0.00001
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.659G>A (p.Arg220His)
|
rs780066296
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_170707.4(LMNA):c.662G>A (p.Arg221His)
|
rs372567202
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_170707.4(LMNA):c.678G>A (p.Leu226=)
|
rs964377328
|
0.00001
|
NM_170707.4(LMNA):c.681G>A (p.Val227=)
|
rs769896881
|
0.00001
|
NM_170707.4(LMNA):c.704G>A (p.Arg235His)
|
rs759829161
|
0.00001
|
NM_170707.4(LMNA):c.718C>T (p.Arg240Trp)
|
rs775964460
|
0.00001
|
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)
|
rs1195524446
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_170707.4(LMNA):c.732G>A (p.Ala244=)
|
rs756952925
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
NM_170707.4(LMNA):c.771G>A (p.Glu257=)
|
rs1471649557
|
0.00001
|
NM_170707.4(LMNA):c.7A>G (p.Thr3Ala)
|
rs1183004393
|
0.00001
|
NM_170707.4(LMNA):c.811-8C>T
|
rs780929524
|
0.00001
|
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr)
|
rs1553265433
|
0.00001
|
NM_170707.4(LMNA):c.835G>A (p.Glu279Lys)
|
rs1651446094
|
0.00001
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00001
|
NM_170707.4(LMNA):c.936+19C>T
|
rs201664413
|
0.00001
|
NM_170707.4(LMNA):c.936+7C>T
|
rs757401091
|
0.00001
|
NM_170707.4(LMNA):c.93G>A (p.Glu31=)
|
rs878855235
|
0.00001
|
NM_170707.4(LMNA):c.948G>A (p.Lys316=)
|
rs778421025
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_170707.4(LMNA):c.954G>A (p.Ala318=)
|
rs397517914
|
0.00001
|
NM_170707.4(LMNA):c.966C>T (p.Asp322=)
|
rs1003803799
|
0.00001
|
NM_170707.4(LMNA):c.96G>A (p.Lys32=)
|
rs775429079
|
0.00001
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)
|
rs879253898
|
0.00001
|
NM_170707.4(LMNA):c.997A>G (p.Thr333Ala)
|
rs1308777587
|
0.00001
|
NM_170707.4(LMNA):c.998C>T (p.Thr333Ile)
|
rs763069566
|
0.00001
|
NM_181882.3(PRX):c.1006G>T (p.Asp336Tyr)
|
rs1299537537
|
0.00001
|
NM_181882.3(PRX):c.1011G>C (p.Leu337=)
|
rs1156439031
|
0.00001
|
NM_181882.3(PRX):c.1019C>T (p.Pro340Leu)
|
rs780373582
|
0.00001
|
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)
|
rs104894715
|
0.00001
|
NM_181882.3(PRX):c.1113A>G (p.Glu371=)
|
rs137930942
|
0.00001
|
NM_181882.3(PRX):c.1119T>C (p.Ala373=)
|
rs779189309
|
0.00001
|
NM_181882.3(PRX):c.120G>A (p.Glu40=)
|
rs748206641
|
0.00001
|
NM_181882.3(PRX):c.1215C>T (p.Pro405=)
|
rs377184301
|
0.00001
|
NM_181882.3(PRX):c.1245G>C (p.Leu415=)
|
rs2079447078
|
0.00001
|
NM_181882.3(PRX):c.1251G>T (p.Leu417=)
|
rs751470543
|
0.00001
|
NM_181882.3(PRX):c.1255A>T (p.Thr419Ser)
|
rs766358380
|
0.00001
|
NM_181882.3(PRX):c.1269C>G (p.Pro423=)
|
rs201031197
|
0.00001
|
NM_181882.3(PRX):c.1286T>C (p.Val429Ala)
|
rs776312092
|
0.00001
|
NM_181882.3(PRX):c.1300G>C (p.Val434Leu)
|
rs746471273
|
0.00001
|
NM_181882.3(PRX):c.1308G>A (p.Val436=)
|
rs771496284
|
0.00001
|
NM_181882.3(PRX):c.1315G>A (p.Gly439Arg)
|
rs756439826
|
0.00001
|
NM_181882.3(PRX):c.134G>A (p.Arg45Gln)
|
rs751441856
|
0.00001
|
NM_181882.3(PRX):c.138G>C (p.Glu46Asp)
|
rs1477884504
|
0.00001
|
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)
|
rs574861276
|
0.00001
|
NM_181882.3(PRX):c.13A>G (p.Ser5Gly)
|
rs767350599
|
0.00001
|
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
|
rs760423138
|
0.00001
|
NM_181882.3(PRX):c.148G>T (p.Asp50Tyr)
|
rs528136982
|
0.00001
|
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
|
rs1167411868
|
0.00001
|
NM_181882.3(PRX):c.1529T>C (p.Met510Thr)
|
rs780375180
|
0.00001
|
NM_181882.3(PRX):c.1538C>T (p.Pro513Leu)
|
rs148742209
|
0.00001
|
NM_181882.3(PRX):c.15C>G (p.Ser5Arg)
|
rs1408677034
|
0.00001
|
NM_181882.3(PRX):c.1616C>T (p.Pro539Leu)
|
rs762424034
|
0.00001
|
NM_181882.3(PRX):c.1647G>C (p.Pro549=)
|
rs202113722
|
0.00001
|
NM_181882.3(PRX):c.1656A>G (p.Ser552=)
|
rs1568707640
|
0.00001
|
NM_181882.3(PRX):c.1749T>G (p.Pro583=)
|
rs1234792110
|
0.00001
|
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
|
rs1389523539
|
0.00001
|
NM_181882.3(PRX):c.1790A>G (p.Glu597Gly)
|
rs746698242
|
0.00001
|
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
|
rs757931043
|
0.00001
|
NM_181882.3(PRX):c.17G>A (p.Arg6Gln)
|
rs774078598
|
0.00001
|
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
|
rs2079438994
|
0.00001
|
NM_181882.3(PRX):c.184+10C>G
|
rs1283752580
|
0.00001
|
NM_181882.3(PRX):c.1842C>A (p.Pro614=)
|
rs559655526
|
0.00001
|
NM_181882.3(PRX):c.185-4G>A
|
rs1322328826
|
0.00001
|
NM_181882.3(PRX):c.185-8G>A
|
rs768814221
|
0.00001
|
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)
|
rs1210729449
|
0.00001
|
NM_181882.3(PRX):c.1919A>G (p.Lys640Arg)
|
rs781739632
|
0.00001
|
NM_181882.3(PRX):c.1925C>T (p.Pro642Leu)
|
rs751935470
|
0.00001
|
NM_181882.3(PRX):c.1971G>A (p.Val657=)
|
rs766837777
|
0.00001
|
NM_181882.3(PRX):c.1993A>G (p.Met665Val)
|
rs747528144
|
0.00001
|
NM_181882.3(PRX):c.2018T>C (p.Met673Thr)
|
rs760571664
|
0.00001
|
NM_181882.3(PRX):c.2040C>T (p.Leu680=)
|
rs140717633
|
0.00001
|
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
|
rs1387072587
|
0.00001
|
NM_181882.3(PRX):c.2188C>T (p.Pro730Ser)
|
rs2079433440
|
0.00001
|
NM_181882.3(PRX):c.2209G>A (p.Val737Met)
|
rs1237761863
|
0.00001
|
NM_181882.3(PRX):c.2221C>T (p.His741Tyr)
|
rs1599653314
|
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.2267C>T (p.Pro756Leu)
|
rs749585237
|
0.00001
|
NM_181882.3(PRX):c.2268G>A (p.Pro756=)
|
rs570227186
|
0.00001
|
NM_181882.3(PRX):c.2274G>T (p.Met758Ile)
|
rs770109023
|
0.00001
|
NM_181882.3(PRX):c.2280G>T (p.Val760=)
|
rs781372987
|
0.00001
|
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
|
rs1340076007
|
0.00001
|
NM_181882.3(PRX):c.2307G>A (p.Pro769=)
|
rs148655811
|
0.00001
|
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr)
|
rs369505684
|
0.00001
|
NM_181882.3(PRX):c.2339C>T (p.Pro780Leu)
|
rs371562775
|
0.00001
|
NM_181882.3(PRX):c.2345T>G (p.Val782Gly)
|
rs747153697
|
0.00001
|
NM_181882.3(PRX):c.2353A>G (p.Lys785Glu)
|
rs780270731
|
0.00001
|
NM_181882.3(PRX):c.2421C>T (p.Pro807=)
|
rs752259641
|
0.00001
|
NM_181882.3(PRX):c.2432G>T (p.Arg811Met)
|
rs2079430119
|
0.00001
|
NM_181882.3(PRX):c.2505C>T (p.Pro835=)
|
rs1385769822
|
0.00001
|
NM_181882.3(PRX):c.2523G>A (p.Val841=)
|
rs780710089
|
0.00001
|
NM_181882.3(PRX):c.2558C>T (p.Thr853Ile)
|
rs2079428604
|
0.00001
|
NM_181882.3(PRX):c.256T>C (p.Cys86Arg)
|
rs765676916
|
0.00001
|
NM_181882.3(PRX):c.2582T>C (p.Leu861Pro)
|
rs1192034174
|
0.00001
|
NM_181882.3(PRX):c.2591C>G (p.Ala864Gly)
|
rs777582529
|
0.00001
|
NM_181882.3(PRX):c.25G>A (p.Glu9Lys)
|
rs1020492565
|
0.00001
|
NM_181882.3(PRX):c.2619C>T (p.Ala873=)
|
rs761066015
|
0.00001
|
NM_181882.3(PRX):c.2642G>A (p.Arg881Gln)
|
rs570264094
|
0.00001
|
NM_181882.3(PRX):c.2657A>T (p.Glu886Val)
|
rs1212378012
|
0.00001
|
NM_181882.3(PRX):c.2697C>A (p.Pro899=)
|
rs778762350
|
0.00001
|
NM_181882.3(PRX):c.27+5G>C
|
rs371520525
|
0.00001
|
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr)
|
rs1179595016
|
0.00001
|
NM_181882.3(PRX):c.2841G>A (p.Glu947=)
|
rs771912595
|
0.00001
|
NM_181882.3(PRX):c.2851G>T (p.Ala951Ser)
|
rs748622767
|
0.00001
|
NM_181882.3(PRX):c.2860G>T (p.Ala954Ser)
|
rs747471167
|
0.00001
|
NM_181882.3(PRX):c.2967C>T (p.Leu989=)
|
rs1057522657
|
0.00001
|
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
|
rs1352237419
|
0.00001
|
NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs)
|
rs1301129751
|
0.00001
|
NM_181882.3(PRX):c.3050A>G (p.Lys1017Arg)
|
rs538922683
|
0.00001
|
NM_181882.3(PRX):c.3052G>A (p.Gly1018Arg)
|
rs772827175
|
0.00001
|
NM_181882.3(PRX):c.307G>A (p.Gly103Arg)
|
rs754510516
|
0.00001
|
NM_181882.3(PRX):c.3094G>A (p.Asp1032Asn)
|
rs772431799
|
0.00001
|
NM_181882.3(PRX):c.3099_3100del (p.Glu1034fs)
|
rs1474525486
|
0.00001
|
NM_181882.3(PRX):c.3109G>A (p.Glu1037Lys)
|
rs571311308
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
NM_181882.3(PRX):c.3252G>A (p.Gly1084=)
|
rs1364023547
|
0.00001
|
NM_181882.3(PRX):c.3261T>C (p.Ala1087=)
|
rs1412558420
|
0.00001
|
NM_181882.3(PRX):c.3270C>T (p.Thr1090=)
|
rs764866078
|
0.00001
|
NM_181882.3(PRX):c.3281T>G (p.Leu1094Arg)
|
rs1270740440
|
0.00001
|
NM_181882.3(PRX):c.3292G>A (p.Glu1098Lys)
|
rs565167885
|
0.00001
|
NM_181882.3(PRX):c.3309G>T (p.Thr1103=)
|
rs557336965
|
0.00001
|
NM_181882.3(PRX):c.3315C>T (p.Gly1105=)
|
rs762102597
|
0.00001
|
NM_181882.3(PRX):c.333C>G (p.Thr111=)
|
rs764439512
|
0.00001
|
NM_181882.3(PRX):c.3351C>T (p.Ala1117=)
|
rs535934188
|
0.00001
|
NM_181882.3(PRX):c.335T>C (p.Val112Ala)
|
rs760944190
|
0.00001
|
NM_181882.3(PRX):c.3366G>A (p.Gln1122=)
|
rs952933935
|
0.00001
|
NM_181882.3(PRX):c.3375C>T (p.Gly1125=)
|
rs755560307
|
0.00001
|
NM_181882.3(PRX):c.3376C>A (p.Leu1126Met)
|
rs1483705612
|
0.00001
|
NM_181882.3(PRX):c.3392C>A (p.Ala1131Asp)
|
rs750801377
|
0.00001
|
NM_181882.3(PRX):c.3405C>T (p.Val1135=)
|
rs1359310179
|
0.00001
|
NM_181882.3(PRX):c.3416A>G (p.His1139Arg)
|
rs1268527552
|
0.00001
|
NM_181882.3(PRX):c.3419A>T (p.Asp1140Val)
|
rs923473427
|
0.00001
|
NM_181882.3(PRX):c.345C>T (p.Tyr115=)
|
rs774364484
|
0.00001
|
NM_181882.3(PRX):c.346G>A (p.Glu116Lys)
|
rs770713710
|
0.00001
|
NM_181882.3(PRX):c.3483G>A (p.Gly1161=)
|
rs1344913169
|
0.00001
|
NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter)
|
rs767591489
|
0.00001
|
NM_181882.3(PRX):c.354G>A (p.Lys118=)
|
rs1044654884
|
0.00001
|
NM_181882.3(PRX):c.3562C>A (p.Pro1188Thr)
|
rs878855284
|
0.00001
|
NM_181882.3(PRX):c.3583C>T (p.Pro1195Ser)
|
rs1555800544
|
0.00001
|
NM_181882.3(PRX):c.358C>A (p.Pro120Thr)
|
rs762808329
|
0.00001
|
NM_181882.3(PRX):c.360G>T (p.Pro120=)
|
rs142003722
|
0.00001
|
NM_181882.3(PRX):c.3622G>A (p.Glu1208Lys)
|
rs767504243
|
0.00001
|
NM_181882.3(PRX):c.3624G>C (p.Glu1208Asp)
|
rs1030878933
|
0.00001
|
NM_181882.3(PRX):c.3630C>G (p.Val1210=)
|
rs1305658668
|
0.00001
|
NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser)
|
rs1303392170
|
0.00001
|
NM_181882.3(PRX):c.3674T>C (p.Val1225Ala)
|
rs1329396084
|
0.00001
|
NM_181882.3(PRX):c.3703G>A (p.Glu1235Lys)
|
rs1385904344
|
0.00001
|
NM_181882.3(PRX):c.3717C>T (p.Gly1239=)
|
rs764955913
|
0.00001
|
NM_181882.3(PRX):c.3722G>C (p.Gly1241Ala)
|
rs139120811
|
0.00001
|
NM_181882.3(PRX):c.3726G>T (p.Gly1242=)
|
rs775170011
|
0.00001
|
NM_181882.3(PRX):c.3756C>T (p.Ala1252=)
|
rs567256423
|
0.00001
|
NM_181882.3(PRX):c.3805G>A (p.Glu1269Lys)
|
rs916285011
|
0.00001
|
NM_181882.3(PRX):c.381+6C>T
|
rs778983888
|
0.00001
|
NM_181882.3(PRX):c.3835G>T (p.Val1279Leu)
|
rs747247972
|
0.00001
|
NM_181882.3(PRX):c.3841C>T (p.Leu1281Phe)
|
rs2079410935
|
0.00001
|
NM_181882.3(PRX):c.3843C>A (p.Leu1281=)
|
rs369372933
|
0.00001
|
NM_181882.3(PRX):c.3849A>G (p.Pro1283=)
|
rs757247849
|
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.392G>A (p.Ser131Asn)
|
rs781394276
|
0.00001
|
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)
|
rs781159482
|
0.00001
|
NM_181882.3(PRX):c.3966G>A (p.Glu1322=)
|
rs1364542566
|
0.00001
|
NM_181882.3(PRX):c.4047C>T (p.Ser1349=)
|
rs759882475
|
0.00001
|
NM_181882.3(PRX):c.4090G>A (p.Gly1364Arg)
|
rs1481896317
|
0.00001
|
NM_181882.3(PRX):c.4103C>T (p.Ser1368Leu)
|
rs768636520
|
0.00001
|
NM_181882.3(PRX):c.4109G>A (p.Arg1370His)
|
rs756687548
|
0.00001
|
NM_181882.3(PRX):c.4115G>T (p.Gly1372Val)
|
rs751906783
|
0.00001
|
NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr)
|
rs752060706
|
0.00001
|
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
|
rs1486029743
|
0.00001
|
NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu)
|
rs1005254872
|
0.00001
|
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
|
rs778270475
|
0.00001
|
NM_181882.3(PRX):c.485A>C (p.Lys162Thr)
|
rs879254072
|
0.00001
|
NM_181882.3(PRX):c.486G>A (p.Lys162=)
|
rs2079457857
|
0.00001
|
NM_181882.3(PRX):c.494G>A (p.Arg165His)
|
rs780278195
|
0.00001
|
NM_181882.3(PRX):c.503G>A (p.Arg168Gln)
|
rs763833871
|
0.00001
|
NM_181882.3(PRX):c.557G>A (p.Arg186Gln)
|
rs569213133
|
0.00001
|
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
|
rs944160754
|
0.00001
|
NM_181882.3(PRX):c.598G>A (p.Glu200Lys)
|
rs767207935
|
0.00001
|
NM_181882.3(PRX):c.59T>C (p.Ile20Thr)
|
rs767446213
|
0.00001
|
NM_181882.3(PRX):c.627C>T (p.Ala209=)
|
rs761085934
|
0.00001
|
NM_181882.3(PRX):c.628G>A (p.Ala210Thr)
|
rs775981300
|
0.00001
|
NM_181882.3(PRX):c.62T>C (p.Val21Ala)
|
rs1167676481
|
0.00001
|
NM_181882.3(PRX):c.648A>G (p.Lys216=)
|
rs1199712298
|
0.00001
|
NM_181882.3(PRX):c.669G>T (p.Val223=)
|
rs1433628210
|
0.00001
|
NM_181882.3(PRX):c.673G>T (p.Ala225Ser)
|
rs754734195
|
0.00001
|
NM_181882.3(PRX):c.707T>C (p.Leu236Pro)
|
rs876661240
|
0.00001
|
NM_181882.3(PRX):c.732G>A (p.Ala244=)
|
rs769735682
|
0.00001
|
NM_181882.3(PRX):c.75G>A (p.Ala25=)
|
rs766160977
|
0.00001
|
NM_181882.3(PRX):c.815C>T (p.Thr272Ile)
|
rs747384252
|
0.00001
|
NM_181882.3(PRX):c.81C>T (p.Thr27=)
|
rs988404691
|
0.00001
|
NM_181882.3(PRX):c.820G>C (p.Gly274Arg)
|
rs750022799
|
0.00001
|
NM_181882.3(PRX):c.825C>T (p.Leu275=)
|
rs753268672
|
0.00001
|
NM_181882.3(PRX):c.82G>A (p.Gly28Arg)
|
rs2079513379
|
0.00001
|
NM_181882.3(PRX):c.830C>T (p.Ala277Val)
|
rs1393962979
|
0.00001
|
NM_181882.3(PRX):c.834G>A (p.Pro278=)
|
rs759984063
|
0.00001
|
NM_181882.3(PRX):c.901C>T (p.Pro301Ser)
|
rs1453242996
|
0.00001
|
NM_181882.3(PRX):c.936A>G (p.Leu312=)
|
rs752086513
|
0.00001
|
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
|
rs577197549
|
0.00001
|
NM_181882.3(PRX):c.959C>T (p.Ser320Leu)
|
rs760647416
|
0.00001
|
NM_181882.3(PRX):c.994A>G (p.Thr332Ala)
|
rs143710873
|
0.00001
|
NC_000001.10:g.(?_10394568)_(10566215_?)del
|
|
|
NC_000001.10:g.(?_10428505)_(10428616_?)dup
|
|
|
NC_000001.10:g.(?_11906066)_(12066770_?)dup
|
|
|
NC_000001.10:g.(?_12008023)_(12059162_?)dup
|
|
|
NC_000001.10:g.(?_12030707)_(12071622_?)dup
|
|
|
NC_000001.10:g.(?_12049226)_(12065004_?)del
|
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NC_000001.10:g.(?_12052592)_(12057498_?)dup
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NC_000001.10:g.(?_33246629)_(33248160_?)del
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NC_000001.10:g.(?_33247985)_(33248160_?)del
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NC_000003.11:g.(?_128514201)_(128631967_?)dup
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NC_000003.11:g.(?_179118981)_(179144008_?)dup
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NC_000003.11:g.(?_179119001)_(179138735_?)dup
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NC_000003.11:g.(?_179119001)_(179143988_?)dup
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NC_000005.10:g.(?_149047842)_(149048009_?)del
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NC_000005.10:g.(?_149062971)_(149063174_?)del
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NC_000005.9:g.(?_148360713)_(148443737_?)del
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NC_000005.9:g.(?_148420147)_(148420260_?)del
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NC_000006.11:g.(?_110048292)_(110098283_?)del
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NC_000006.11:g.(?_110106153)_(110113887_?)del
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NC_000006.12:g.(?_109691416)_(109691521_?)del
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NC_000006.12:g.(?_109741424)_(109743792_?)del
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NC_000007.13:g.(?_75931813)_(75933510_?)dup
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NC_000007.13:g.(?_75932030)_(75933490_?)del
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NC_000007.13:g.(?_75932030)_(75933490_?)dup
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NC_000007.13:g.(?_75932366)_(75934037_?)del
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NC_000007.14:g.(?_76303782)_(76304193_?)del
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NC_000008.11:g.(?_74349383)_(74368110_?)dup
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NC_000008.11:g.74350373_74350374del
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rs577136201
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NC_000009.11:g.(?_130216797)_(130224662_?)dup
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NC_000009.11:g.(?_130216807)_(130265178_?)dup
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NC_000011.9:g.(?_68671411)_(68707209_?)del
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NC_000011.9:g.(?_9809161)_(9812250_?)del
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NC_000011.9:g.(?_9989878)_(9990102_?)del
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NC_000012.11:g.(?_57883659)_(57884447_?)del
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NC_000014.9:g.(?_104701356)_(104703963_?)del
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NC_000017.10:g.(?_40689396)_(40690793_?)del
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NC_000023.10:g.(?_24549754)_(24549907_?)del
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NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
|
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
|
|
|
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=)
|
rs2143100146
|
|
NM_000263.4(NAGLU):c.1021+11T>A
|
|
|
NM_000263.4(NAGLU):c.1021+13G>C
|
|
|
NM_000263.4(NAGLU):c.1021+15T>C
|
rs149434978
|
|
NM_000263.4(NAGLU):c.1021+15T>G
|
rs149434978
|
|
NM_000263.4(NAGLU):c.1021+16G>A
|
|
|
NM_000263.4(NAGLU):c.1021+9C>T
|
|
|
NM_000263.4(NAGLU):c.1022-10C>G
|
|
|
NM_000263.4(NAGLU):c.1022-14C>T
|
|
|
NM_000263.4(NAGLU):c.1022-17C>G
|
|
|
NM_000263.4(NAGLU):c.1022-18C>A
|
|
|
NM_000263.4(NAGLU):c.1022-20C>T
|
rs1294766961
|
|
NM_000263.4(NAGLU):c.1022-2A>G
|
|
|
NM_000263.4(NAGLU):c.1022-8G>A
|
rs2092925422
|
|
NM_000263.4(NAGLU):c.1023G>T (p.Val341=)
|
rs1267291000
|
|
NM_000263.4(NAGLU):c.1025del (p.Asp342fs)
|
|
|
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)
|
rs2143075651
|
|
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)
|
|
|
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
|
|
|
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=)
|
|
|
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=)
|
rs776863513
|
|
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=)
|
rs2143107360
|
|
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=)
|
|
|
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
|
|
|
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
|
|
|
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
|
|
|
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)
|
rs1180591588
|
|
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
|
|
|
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)
|
rs753454744
|
|
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=)
|
|
|
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=)
|
|
|
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs)
|
|
|
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=)
|
rs778956418
|
|
NM_000263.4(NAGLU):c.108G>T (p.Val36=)
|
rs2092906054
|
|
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
|
|
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305
|
|
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242
|
|
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=)
|
|
|
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala)
|
rs2143107785
|
|
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=)
|
rs2143107804
|
|
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
|
|
|
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=)
|
|
|
NM_000263.4(NAGLU):c.111C>G (p.Ala37=)
|
rs2143075712
|
|
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)
|
|
|
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
|
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
|
|
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe)
|
rs2143107974
|
|
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=)
|
|
|
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=)
|
|
|
NM_000263.4(NAGLU):c.1140T>A (p.Val380=)
|
|
|
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
|
|
|
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro)
|
rs2143108019
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=)
|
rs2143108047
|
|
NM_000263.4(NAGLU):c.115C>T (p.Leu39=)
|
rs2143075772
|
|
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs)
|
rs2092925958
|
|
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs)
|
rs2143108228
|
|
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
|
|
|
NM_000263.4(NAGLU):c.1177del (p.Arg393fs)
|
|
|
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
|
|
|
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=)
|
|
|
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly)
|
rs1599260536
|
|
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=)
|
rs2143108378
|
|
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
|
|
|
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
|
|
|
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
|
|
|
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=)
|
|
|
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
|
|
|
NM_000263.4(NAGLU):c.120G>A (p.Leu40=)
|
|
|
NM_000263.4(NAGLU):c.120G>T (p.Leu40=)
|
rs2143075800
|
|
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=)
|
|
|
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
|
|
|
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
|
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
|
|
|
NM_000263.4(NAGLU):c.123G>T (p.Gly41=)
|
rs1170826218
|
|
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=)
|
|
|
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=)
|
|
|
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=)
|
rs2143108736
|
|
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=)
|
|
|
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
|
|
|
NM_000263.4(NAGLU):c.1269G>A (p.Val423=)
|
rs2143108842
|
|
NM_000263.4(NAGLU):c.126A>G (p.Pro42=)
|
rs1463936178
|
|
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
|
|
|
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
|
|
|
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala)
|
rs771151036
|
|
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=)
|
rs2143108984
|
|
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
|
rs2092926507
|
|
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=)
|
rs2143109038
|
|
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
|
|
|
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=)
|
|
|
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=)
|
|
|
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=)
|
rs2143109090
|
|
NM_000263.4(NAGLU):c.129C>A (p.Gly43=)
|
|
|
NM_000263.4(NAGLU):c.12G>A (p.Val4=)
|
|
|
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=)
|
|
|
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
|
|
|
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=)
|
rs1049139446
|
|
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=)
|
|
|
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=)
|
rs2092926617
|
|
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg)
|
rs2143109259
|
|
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=)
|
rs751479777
|
|
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
|
|
|
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile)
|
rs1370763282
|
|
NM_000263.4(NAGLU):c.132C>A (p.Pro44=)
|
|
|
NM_000263.4(NAGLU):c.132C>G (p.Pro44=)
|
rs1489090930
|
|
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=)
|
rs2143109423
|
|
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=)
|
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1336del (p.Glu446fs)
|
rs2143109467
|
|
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)
|
|
|
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=)
|
rs2092926773
|
|
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=)
|
rs2143109514
|
|
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
|
|
|
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)
|
|
|
NM_000263.4(NAGLU):c.1359G>A (p.Val453=)
|
|
|
NM_000263.4(NAGLU):c.1359G>T (p.Val453=)
|
|
|
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
|
|
|
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)
|
rs375103824
|
|
NM_000263.4(NAGLU):c.136del (p.Ala46fs)
|
rs2143075902
|
|
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=)
|
rs1599260897
|
|
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=)
|
|
|
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=)
|
rs1238922003
|
|
NM_000263.4(NAGLU):c.138C>A (p.Ala46=)
|
rs2143075937
|
|
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
|
|
|
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
|
|
|
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala)
|
rs894998392
|
|
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=)
|
rs1567893530
|
|
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
|
|
|
NM_000263.4(NAGLU):c.141C>T (p.Asp47=)
|
rs2143075952
|
|
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)
|
rs1250949842
|
|
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)
|
rs118204024
|
|
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=)
|
|
|
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=)
|
rs752918057
|
|
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
|
|
|
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=)
|
|
|
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=)
|
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)
|
|
|
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)
|
rs104894599
|
|
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu)
|
rs1332288767
|
|
NM_000263.4(NAGLU):c.1453dup (p.Val485fs)
|
rs749338526
|
|
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
|
rs2092906185
|
|
NM_000263.4(NAGLU):c.1460dup (p.His487fs)
|
rs2143110493
|
|
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln)
|
rs965655357
|
|
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
|
|
|
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=)
|
|
|
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
|
|
|
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
|
|
|
NM_000263.4(NAGLU):c.147C>G (p.Ser49=)
|
rs1312501106
|
|
NM_000263.4(NAGLU):c.147del (p.Val50fs)
|
|
|
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)
|
|
|
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
|
|
|
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
|
|
|
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser)
|
rs2143110806
|
|
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=)
|
|
|
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=)
|
rs1353058781
|
|
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
|
|
|
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro)
|
rs2092927686
|
|
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)
|
|
|
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
|
|
|
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=)
|
|
|
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
|
|
|
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=)
|
rs1225039564
|
|
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=)
|
|
|
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
|
|
|
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys)
|
rs781603010
|
|
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=)
|
|
|
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=)
|
rs750897125
|
|
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
|
|
|
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)
|
|
|
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser)
|
rs770129454
|
|
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=)
|
rs768357311
|
|
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
|
|
|
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=)
|
rs2143111531
|
|
NM_000263.4(NAGLU):c.153G>C (p.Ser51=)
|
rs2143076082
|
|
NM_000263.4(NAGLU):c.153G>T (p.Ser51=)
|
rs2143076082
|
|
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=)
|
rs2143111572
|
|
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
|
|
|
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=)
|
|
|
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
|
|
|
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=)
|
|
|
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)
|
|
|
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter)
|
rs2143111795
|
|
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=)
|
|
|
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
|
|
|
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
|
|
|
NM_000263.4(NAGLU):c.15G>A (p.Ala5=)
|
|
|
NM_000263.4(NAGLU):c.15G>T (p.Ala5=)
|
rs2092905675
|
|
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe)
|
rs2092928280
|
|
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
|
|
|
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
|
|
|
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=)
|
rs780527821
|
|
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
|
|
|
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1623G>T (p.Arg541=)
|
|
|
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=)
|
rs2143112148
|
|
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)
|
|
|
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=)
|
rs2143112209
|
|
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=)
|
|
|
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
|
|
|
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
|
|
|
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=)
|
rs2143112304
|
|
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=)
|
|
|
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
|
|
|
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
|
|
|
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
|
|
|
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=)
|
rs2143112410
|
|
NM_000263.4(NAGLU):c.165T>C (p.Ala55=)
|
|
|
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
|
|
|
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
|
|
|
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)
|
|
|
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=)
|
|
|
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
|
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)
|
|
|
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=)
|
rs760741593
|
|
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=)
|
rs766911974
|
|
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
|
|
|
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=)
|
|
|
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=)
|
rs2143112704
|
|
NM_000263.4(NAGLU):c.168G>C (p.Leu56=)
|
rs2092906262
|
|
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)
|
|
|
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=)
|
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=)
|
|
|
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)
|
|
|
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=)
|
|
|
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser)
|
rs2092928703
|
|
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=)
|
rs535354102
|
|
NM_000263.4(NAGLU):c.1704G>A (p.Val568=)
|
|
|
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=)
|
|
|
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp)
|
rs2092928775
|
|
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=)
|
|
|
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
|
|
|
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=)
|
|
|
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=)
|
|
|
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=)
|
|
|
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
|
|
|
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
|
|
|
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
|
|
|
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
|
|
|
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=)
|
|
|
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val)
|
|
|
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=)
|
|
|
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=)
|
rs2143113512
|
|
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met)
|
rs1217324478
|
|
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=)
|
rs2143113520
|
|
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer)
|
rs2143113566
|
|
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys)
|
rs1274337932
|
|
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=)
|
rs2143113596
|
|
NM_000263.4(NAGLU):c.177G>A (p.Lys59=)
|
rs1288446882
|
|
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=)
|
|
|
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=)
|
rs115166595
|
|
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=)
|
rs753170828
|
|
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=)
|
rs146715254
|
|
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=)
|
|
|
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
|
|
|
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=)
|
rs2143113802
|
|
NM_000263.4(NAGLU):c.180G>C (p.Pro60=)
|
rs1449219265
|
|
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser)
|
rs1347224658
|
|
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=)
|
|
|
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=)
|
|
|
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=)
|
|
|
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs)
|
rs2143113857
|
|
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
|
|
|
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=)
|
|
|
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
|
|
|
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
|
|
|
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=)
|
rs1198292626
|
|
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=)
|
|
|
NM_000263.4(NAGLU):c.183C>A (p.Gly61=)
|
|
|
NM_000263.4(NAGLU):c.183C>G (p.Gly61=)
|
rs2143076268
|
|
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=)
|
|
|
NM_000263.4(NAGLU):c.184T>C (p.Leu62=)
|
|
|
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=)
|
|
|
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro)
|
rs2143114107
|
|
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=)
|
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
|
|
|
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=)
|
|
|
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
|
|
|
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=)
|
rs2143114281
|
|
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
|
|
|
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
|
|
|
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
|
rs764322586
|
|
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
|
|
|
NM_000263.4(NAGLU):c.1890C>G (p.Val630=)
|
rs1281727710
|
|
NM_000263.4(NAGLU):c.1890C>T (p.Val630=)
|
rs1281727710
|
|
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=)
|
rs2143114448
|
|
NM_000263.4(NAGLU):c.18G>A (p.Val6=)
|
rs1599253491
|
|
NM_000263.4(NAGLU):c.18G>C (p.Val6=)
|
rs1599253491
|
|
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
|
|
|
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
|
|
|
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys)
|
rs2143114630
|
|
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
|
|
|
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
|
|
|
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)
|
|
|
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
|
|
|
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
|
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=)
|
|
|
NM_000263.4(NAGLU):c.192C>T (p.Thr64=)
|
|
|
NM_000263.4(NAGLU):c.192del (p.Tyr65fs)
|
rs2092906340
|
|
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp)
|
rs2143114887
|
|
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=)
|
|
|
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His)
|
rs2143076321
|
|
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
|
|
|
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=)
|
|
|
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
|
|
|
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)
|
rs527236038
|
|
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=)
|
rs2092929943
|
|
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=)
|
|
|
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=)
|
rs1482682282
|
|
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=)
|
|
|
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro)
|
rs2092930000
|
|
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=)
|
|
|
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
|
|
|
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=)
|
rs981984204
|
|
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=)
|
|
|
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)
|
|
|
NM_000263.4(NAGLU):c.1A>G (p.Met1Val)
|
rs1325661354
|
|
NM_000263.4(NAGLU):c.2001G>A (p.Val667=)
|
|
|
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=)
|
|
|
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
|
|
|
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=)
|
|
|
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile)
|
rs1358789110
|
|
NM_000263.4(NAGLU):c.201G>A (p.Leu67=)
|
rs2143076387
|
|
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
|
|
|
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=)
|
rs2143115704
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
|
|
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
|
rs1469781984
|
|
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu)
|
rs2143115795
|
|
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
|
|
|
NM_000263.4(NAGLU):c.2043G>T (p.Ala681=)
|
rs115401566
|
|
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)
|
rs1567894363
|
|
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=)
|
|
|
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)
|
rs2092930339
|
|
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=)
|
|
|
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
|
|
|
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
|
|
|
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
|
|
|
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=)
|
|
|
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)
|
rs1195831432
|
|
NM_000263.4(NAGLU):c.2066del (p.Gly689fs)
|
|
|
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=)
|
|
|
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
|
|
|
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe)
|
rs143906118
|
|
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=)
|
|
|
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu)
|
rs2092930476
|
|
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=)
|
|
|
NM_000263.4(NAGLU):c.207C>T (p.Gly69=)
|
|
|
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)
|
|
|
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln)
|
rs1038367205
|
|
NM_000263.4(NAGLU):c.2085C>T (p.His695=)
|
|
|
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn)
|
rs897126193
|
|
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
|
|
|
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
|
|
|
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
|
NM_000263.4(NAGLU):c.2103C>T (p.Val701=)
|
rs2092930566
|
|
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=)
|
rs2092930575
|
|
NM_000263.4(NAGLU):c.210C>T (p.Gly70=)
|
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu)
|
rs139195906
|
|
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
|
|
|
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly)
|
rs1482294617
|
|
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
|
|
|
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
|
|
|
NM_000263.4(NAGLU):c.213C>T (p.Gly71=)
|
|
|
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=)
|
|
|
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro)
|
rs2143076526
|
|
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245
|
|
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)
|
rs1567890245
|
|
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=)
|
|
|
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=)
|
rs114687267
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=)
|
rs2143116773
|
|
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs)
|
rs2143116788
|
|
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
|
|
|
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)
|
rs1555621442
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu)
|
rs760180817
|
|
NM_000263.4(NAGLU):c.219G>A (p.Ala73=)
|
rs2092906518
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
NM_000263.4(NAGLU):c.21C>G (p.Ala7=)
|
|
|
NM_000263.4(NAGLU):c.21C>T (p.Ala7=)
|
|
|
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys)
|
rs2143116999
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
rs2092930997
|
|
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
|
|
|
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=)
|
|
|
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
|
|
|
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
|
rs2092931038
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys)
|
rs86312
|
|
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)
|
rs1555621448
|
|
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
|
|
|
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)
|
|
|
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
|
|
|
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
|
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
NM_000263.4(NAGLU):c.222C>G (p.Arg74=)
|
rs2143076606
|
|
NM_000263.4(NAGLU):c.222_223del (p.Val75fs)
|
rs2143076561
|
|
NM_000263.4(NAGLU):c.222_247del (p.Val75fs)
|
rs1201516783
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
|
|
|
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
|
rs1460838744
|
|
NM_000263.4(NAGLU):c.225G>T (p.Val75=)
|
|
|
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
|
rs1599253805
|
|
NM_000263.4(NAGLU):c.234C>T (p.Arg78=)
|
|
|
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
|
|
|
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
|
|
|
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
|
|
|
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs)
|
|
|
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
|
rs2092906616
|
|
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
rs2092906625
|
|
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
|
|
|
NM_000263.4(NAGLU):c.243G>T (p.Thr81=)
|
|
|
NM_000263.4(NAGLU):c.249G>A (p.Val83=)
|
|
|
NM_000263.4(NAGLU):c.24G>A (p.Ala8=)
|
|
|
NM_000263.4(NAGLU):c.24G>T (p.Ala8=)
|
|
|
NM_000263.4(NAGLU):c.252G>A (p.Ala84=)
|
|
|
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs)
|
rs2143076795
|
|
NM_000263.4(NAGLU):c.258C>G (p.Ala86=)
|
rs1381587394
|
|
NM_000263.4(NAGLU):c.258C>T (p.Ala86=)
|
|
|
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
|
|
|
NM_000263.4(NAGLU):c.261G>T (p.Ala87=)
|
|
|
NM_000263.4(NAGLU):c.265C>T (p.Leu89=)
|
rs2143076945
|
|
NM_000263.4(NAGLU):c.267G>A (p.Leu89=)
|
rs2143076955
|
|
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly)
|
rs1176961335
|
|
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
|
|
|
NM_000263.4(NAGLU):c.273C>T (p.Arg91=)
|
rs2143076997
|
|
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
|
rs1285791183
|
|
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
|
|
|
NM_000263.4(NAGLU):c.27G>T (p.Ala9=)
|
rs1002286212
|
|
NM_000263.4(NAGLU):c.282C>G (p.Arg94=)
|
rs866267579
|
|
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
|
rs1248922504
|
|
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
|
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
NM_000263.4(NAGLU):c.294C>T (p.Gly98=)
|
rs1318421483
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)
|
|
|
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
|
|
|
NM_000263.4(NAGLU):c.306C>G (p.Ala102=)
|
|
|
NM_000263.4(NAGLU):c.306C>T (p.Ala102=)
|
|
|
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter)
|
rs2092906864
|
|
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)
|
rs1567890328
|
|
NM_000263.4(NAGLU):c.30G>T (p.Val10=)
|
rs1244442641
|
|
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr)
|
rs2143077245
|
|
NM_000263.4(NAGLU):c.312C>T (p.Ser104=)
|
|
|
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
rs1181544224
|
|
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
|
|
|
NM_000263.4(NAGLU):c.315C>G (p.Gly105=)
|
rs2143077290
|
|
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
|
|
|
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs)
|
rs2143077277
|
|
NM_000263.4(NAGLU):c.318T>G (p.Ser106=)
|
|
|
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
|
|
|
NM_000263.4(NAGLU):c.321G>A (p.Gln107=)
|
rs779437712
|
|
NM_000263.4(NAGLU):c.322C>T (p.Leu108=)
|
|
|
NM_000263.4(NAGLU):c.326G>A (p.Arg109His)
|
rs1224387286
|
|
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
|
|
|
NM_000263.4(NAGLU):c.327C>A (p.Arg109=)
|
|
|
NM_000263.4(NAGLU):c.327C>T (p.Arg109=)
|
rs2143077380
|
|
NM_000263.4(NAGLU):c.329dup (p.Pro111fs)
|
|
|
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala)
|
|
|
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val)
|
rs1217361905
|
|
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu)
|
rs1567890347
|
|
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)
|
|
|
NM_000263.4(NAGLU):c.339A>T (p.Pro113=)
|
rs2143077498
|
|
NM_000263.4(NAGLU):c.340C>T (p.Leu114=)
|
rs2143077515
|
|
NM_000263.4(NAGLU):c.342G>A (p.Leu114=)
|
rs748632325
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)
|
rs1379877908
|
|
NM_000263.4(NAGLU):c.345A>G (p.Pro115=)
|
rs2092906994
|
|
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
|
|
|
NM_000263.4(NAGLU):c.348C>G (p.Ala116=)
|
rs559674042
|
|
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
|
|
|
NM_000263.4(NAGLU):c.34dup (p.Val12fs)
|
|
|
NM_000263.4(NAGLU):c.351G>A (p.Val117=)
|
|
|
NM_000263.4(NAGLU):c.354G>A (p.Pro118=)
|
|
|
NM_000263.4(NAGLU):c.354G>C (p.Pro118=)
|
rs745433070
|
|
NM_000263.4(NAGLU):c.354G>T (p.Pro118=)
|
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
|
|
|
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
|
|
|
NM_000263.4(NAGLU):c.366C>A (p.Thr122=)
|
rs769313280
|
|
NM_000263.4(NAGLU):c.366C>G (p.Thr122=)
|
rs769313280
|
|
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)
|
rs796052123
|
|
NM_000263.4(NAGLU):c.36C>T (p.Val12=)
|
|
|
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
|
|
|
NM_000263.4(NAGLU):c.379A>C (p.Asn127His)
|
rs2143077833
|
|
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
|
|
|
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
|
|
|
NM_000263.4(NAGLU):c.381C>T (p.Asn127=)
|
rs965226394
|
|
NM_000263.4(NAGLU):c.383+10C>G
|
rs1599254060
|
|
NM_000263.4(NAGLU):c.383+10C>T
|
rs1599254060
|
|
NM_000263.4(NAGLU):c.383+10del
|
|
|
NM_000263.4(NAGLU):c.383+11G>A
|
rs2143078004
|
|
NM_000263.4(NAGLU):c.383+13A>G
|
|
|
NM_000263.4(NAGLU):c.383+14G>A
|
|
|
NM_000263.4(NAGLU):c.383+15C>T
|
|
|
NM_000263.4(NAGLU):c.383+16T>A
|
|
|
NM_000263.4(NAGLU):c.383+17T>A
|
|
|
NM_000263.4(NAGLU):c.383+17del
|
|
|
NM_000263.4(NAGLU):c.383+20C>A
|
rs1168068741
|
|
NM_000263.4(NAGLU):c.383+3A>G
|
|
|
NM_000263.4(NAGLU):c.383+5C>A
|
rs762932040
|
|
NM_000263.4(NAGLU):c.383+5C>T
|
|
|
NM_000263.4(NAGLU):c.383+6G>T
|
|
|
NM_000263.4(NAGLU):c.383+7C>G
|
|
|
NM_000263.4(NAGLU):c.383+8C>G
|
|
|
NM_000263.4(NAGLU):c.384-10C>T
|
rs772996063
|
|
NM_000263.4(NAGLU):c.384-11A>G
|
|
|
NM_000263.4(NAGLU):c.384-12C>A
|
|
|
NM_000263.4(NAGLU):c.384-12C>T
|
|
|
NM_000263.4(NAGLU):c.384-15T>A
|
|
|
NM_000263.4(NAGLU):c.384-18T>C
|
|
|
NM_000263.4(NAGLU):c.384-19C>T
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
NM_000263.4(NAGLU):c.384-4G>A
|
rs763057510
|
|
NM_000263.4(NAGLU):c.384-4G>T
|
|
|
NM_000263.4(NAGLU):c.384-5C>T
|
rs770061369
|
|
NM_000263.4(NAGLU):c.384-8G>T
|
rs746106558
|
|
NM_000263.4(NAGLU):c.384-9T>C
|
|
|
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter)
|
rs1453761645
|
|
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
|
|
|
NM_000263.4(NAGLU):c.390C>G (p.Arg130=)
|
|
|
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys)
|
rs762337946
|
|
NM_000263.4(NAGLU):c.39T>G (p.Leu13=)
|
|
|
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile)
|
rs2143074939
|
|
NM_000263.4(NAGLU):c.402T>C (p.Asn134=)
|
|
|
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)
|
|
|
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
|
|
|
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
|
|
|
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
|
|
|
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
|
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val)
|
rs2143082071
|
|
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter)
|
rs2143082104
|
|
NM_000263.4(NAGLU):c.444C>T (p.Ala148=)
|
|
|
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
|
|
|
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
|
|
|
NM_000263.4(NAGLU):c.446del (p.Arg149fs)
|
|
|
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)
|
|
|
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro)
|
|
|
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
|
|
|
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter)
|
rs1261241939
|
|
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu)
|
rs141018386
|
|
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
|
rs1352416909
|
|
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)
|
|
|
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
|
rs746876753
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.465C>T (p.Asp155=)
|
|
|
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
|
|
|
NM_000263.4(NAGLU):c.474G>A (p.Ala158=)
|
|
|
NM_000263.4(NAGLU):c.474G>T (p.Ala158=)
|
rs1052714676
|
|
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met)
|
rs2143082294
|
|
NM_000263.4(NAGLU):c.480del (p.Asn160fs)
|
rs886039894
|
|
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
|
|
|
NM_000263.4(NAGLU):c.483C>T (p.Gly161=)
|
|
|
NM_000263.4(NAGLU):c.489C>T (p.Asn163=)
|
rs2143082353
|
|
NM_000263.4(NAGLU):c.490C>T (p.Leu164=)
|
|
|
NM_000263.4(NAGLU):c.490del (p.Leu164fs)
|
|
|
NM_000263.4(NAGLU):c.496C>T (p.Leu166=)
|
|
|
NM_000263.4(NAGLU):c.498G>T (p.Leu166=)
|
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)
|
rs1555621397
|
|
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
|
rs2092910000
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.507C>T (p.Ser169=)
|
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000263.4(NAGLU):c.516G>A (p.Glu172=)
|
|
|
NM_000263.4(NAGLU):c.519C>T (p.Ala173=)
|
|
|
NM_000263.4(NAGLU):c.51G>A (p.Gly17=)
|
rs2143075377
|
|
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter)
|
rs2143082538
|
|
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
|
|
|
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
|
|
|
NM_000263.4(NAGLU):c.531+10C>G
|
|
|
NM_000263.4(NAGLU):c.531+12C>T
|
rs989825472
|
|
NM_000263.4(NAGLU):c.531+15T>C
|
|
|
NM_000263.4(NAGLU):c.531+16C>G
|
|
|
NM_000263.4(NAGLU):c.531+17C>T
|
|
|
NM_000263.4(NAGLU):c.531+1G>A
|
rs1245939928
|
|
NM_000263.4(NAGLU):c.531+8C>T
|
|
|
NM_000263.4(NAGLU):c.531+9C>G
|
rs2143082621
|
|
NM_000263.4(NAGLU):c.532-11T>C
|
rs977518446
|
|
NM_000263.4(NAGLU):c.532-11T>G
|
|
|
NM_000263.4(NAGLU):c.532-14C>T
|
|
|
NM_000263.4(NAGLU):c.532-18T>C
|
|
|
NM_000263.4(NAGLU):c.532-19G>T
|
|
|
NM_000263.4(NAGLU):c.532-1G>A
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.532-1G>C
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.532-6C>T
|
|
|
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=)
|
|
|
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
|
|
|
NM_000263.4(NAGLU):c.543C>G (p.Ala181=)
|
|
|
NM_000263.4(NAGLU):c.543C>T (p.Ala181=)
|
rs2143086433
|
|
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
|
|
|
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg)
|
rs1056643237
|
|
NM_000263.4(NAGLU):c.549C>G (p.Gly183=)
|
|
|
NM_000263.4(NAGLU):c.549C>T (p.Gly183=)
|
|
|
NM_000263.4(NAGLU):c.54C>A (p.Ala18=)
|
|
|
NM_000263.4(NAGLU):c.54C>G (p.Ala18=)
|
rs1276497226
|
|
NM_000263.4(NAGLU):c.54C>T (p.Ala18=)
|
|
|
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs)
|
rs2143075344
|
|
NM_000263.4(NAGLU):c.555C>G (p.Thr185=)
|
|
|
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
|
|
|
NM_000263.4(NAGLU):c.576C>T (p.Phe192=)
|
|
|
NM_000263.4(NAGLU):c.57G>A (p.Gly19=)
|
rs2143075427
|
|
NM_000263.4(NAGLU):c.588T>G (p.Pro196=)
|
|
|
NM_000263.4(NAGLU):c.594C>T (p.Phe198=)
|
|
|
NM_000263.4(NAGLU):c.595del (p.Leu199fs)
|
|
|
NM_000263.4(NAGLU):c.59dup (p.Ala21fs)
|
rs1253870232
|
|
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
|
|
|
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter)
|
rs2143086665
|
|
NM_000263.4(NAGLU):c.606G>A (p.Gly202=)
|
|
|
NM_000263.4(NAGLU):c.607C>A (p.Arg203=)
|
|
|
NM_000263.4(NAGLU):c.60C>T (p.Gly20=)
|
rs1421818277
|
|
NM_000263.4(NAGLU):c.610A>G (p.Met204Val)
|
rs2143086735
|
|
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
|
|
|
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
|
|
|
NM_000263.4(NAGLU):c.615C>T (p.Gly205=)
|
|
|
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser)
|
rs1291552393
|
|
NM_000263.4(NAGLU):c.618C>T (p.Asn206=)
|
rs2143086786
|
|
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
|
|
|
NM_000263.4(NAGLU):c.619C>T (p.Leu207=)
|
rs1052395549
|
|
NM_000263.4(NAGLU):c.621G>A (p.Leu207=)
|
|
|
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs)
|
rs2143086826
|
|
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile)
|
rs2143086833
|
|
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
|
|
|
NM_000263.4(NAGLU):c.63G>A (p.Ala21=)
|
|
|
NM_000263.4(NAGLU):c.640dup (p.Leu214fs)
|
rs2143086910
|
|
NM_000263.4(NAGLU):c.641del (p.Leu214fs)
|
|
|
NM_000263.4(NAGLU):c.642G>A (p.Leu214=)
|
rs1555621747
|
|
NM_000263.4(NAGLU):c.642dup (p.Pro215fs)
|
rs2092912932
|
|
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
|
|
|
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
|
|
|
NM_000263.4(NAGLU):c.648C>A (p.Pro216=)
|
|
|
NM_000263.4(NAGLU):c.648del (p.Ser217fs)
|
rs760370189
|
|
NM_000263.4(NAGLU):c.648dup (p.Ser217fs)
|
rs760370189
|
|
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)
|
|
|
NM_000263.4(NAGLU):c.657C>T (p.His219=)
|
rs779235263
|
|
NM_000263.4(NAGLU):c.660C>A (p.Ile220=)
|
|
|
NM_000263.4(NAGLU):c.663G>A (p.Lys221=)
|
|
|
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=)
|
|
|
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
|
|
|
NM_000263.4(NAGLU):c.678+10T>C
|
|
|
NM_000263.4(NAGLU):c.678+17G>A
|
|
|
NM_000263.4(NAGLU):c.678+7G>C
|
|
|
NM_000263.4(NAGLU):c.678+8G>A
|
rs2143087168
|
|
NM_000263.4(NAGLU):c.678+8del
|
|
|
NM_000263.4(NAGLU):c.679-11T>G
|
|
|
NM_000263.4(NAGLU):c.679-15_679-12del
|
|
|
NM_000263.4(NAGLU):c.679-16C>G
|
|
|
NM_000263.4(NAGLU):c.679-16C>T
|
|
|
NM_000263.4(NAGLU):c.679-18T>A
|
|
|
NM_000263.4(NAGLU):c.679-19C>G
|
|
|
NM_000263.4(NAGLU):c.679-19C>T
|
|
|
NM_000263.4(NAGLU):c.679-20C>T
|
|
|
NM_000263.4(NAGLU):c.679-5T>C
|
rs2143087834
|
|
NM_000263.4(NAGLU):c.679-6C>T
|
|
|
NM_000263.4(NAGLU):c.679-7C>T
|
|
|
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro)
|
rs146456266
|
|
NM_000263.4(NAGLU):c.684G>A (p.Arg228=)
|
|
|
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del)
|
rs2143087937
|
|
NM_000263.4(NAGLU):c.69C>G (p.Gly23=)
|
rs2092905938
|
|
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)
|
rs104894601
|
|
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.702C>T (p.Arg234=)
|
rs2092913790
|
|
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro)
|
rs2143088010
|
|
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
|
|
|
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer)
|
|
|
NM_000263.4(NAGLU):c.713del (p.Met238fs)
|
rs2143088088
|
|
NM_000263.4(NAGLU):c.717C>T (p.Thr239=)
|
|
|
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
|
|
|
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
|
|
|
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)
|
rs2143075470
|
|
NM_000263.4(NAGLU):c.720A>C (p.Pro240=)
|
rs892493572
|
|
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
|
|
|
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
|
|
|
NM_000263.4(NAGLU):c.732A>C (p.Ala244=)
|
rs200729468
|
|
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
|
|
|
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)
|
|
|
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
|
|
|
NM_000263.4(NAGLU):c.738G>A (p.Ala246=)
|
|
|
NM_000263.4(NAGLU):c.738G>C (p.Ala246=)
|
|
|
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
|
|
|
NM_000263.4(NAGLU):c.741del (p.His248fs)
|
|
|
NM_000263.4(NAGLU):c.744T>C (p.His248=)
|
|
|
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile)
|
rs2092914005
|
|
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
|
|
|
NM_000263.4(NAGLU):c.750C>G (p.Pro250=)
|
rs539019626
|
|
NM_000263.4(NAGLU):c.756T>G (p.Ala252=)
|
rs752423543
|
|
NM_000263.4(NAGLU):c.759C>T (p.Val253=)
|
|
|
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
|
|
|
NM_000263.4(NAGLU):c.762C>A (p.Thr254=)
|
|
|
NM_000263.4(NAGLU):c.762C>T (p.Thr254=)
|
|
|
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
|
|
|
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
|
|
|
NM_000263.4(NAGLU):c.764+10C>G
|
|
|
NM_000263.4(NAGLU):c.764+14C>T
|
|
|
NM_000263.4(NAGLU):c.764+16C>T
|
|
|
NM_000263.4(NAGLU):c.764+17C>T
|
|
|
NM_000263.4(NAGLU):c.764+19C>A
|
rs77738617
|
|
NM_000263.4(NAGLU):c.764+19C>T
|
rs77738617
|
|
NM_000263.4(NAGLU):c.764+20C>A
|
|
|
NM_000263.4(NAGLU):c.764+20del
|
|
|
NM_000263.4(NAGLU):c.764+2T>C
|
|
|
NM_000263.4(NAGLU):c.764+5G>A
|
|
|
NM_000263.4(NAGLU):c.764+8T>C
|
rs2143088553
|
|
NM_000263.4(NAGLU):c.764+9C>T
|
|
|
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr)
|
rs2143088503
|
|
NM_000263.4(NAGLU):c.765-12G>C
|
|
|
NM_000263.4(NAGLU):c.765-14T>C
|
|
|
NM_000263.4(NAGLU):c.765-16T>C
|
rs1006672054
|
|
NM_000263.4(NAGLU):c.765-17C>T
|
|
|
NM_000263.4(NAGLU):c.765-4C>T
|
rs755356822
|
|
NM_000263.4(NAGLU):c.765-5A>G
|
|
|
NM_000263.4(NAGLU):c.765-5A>T
|
|
|
NM_000263.4(NAGLU):c.768G>A (p.Val256=)
|
rs2092919944
|
|
NM_000263.4(NAGLU):c.771C>T (p.Phe257=)
|
rs1599258298
|
|
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
|
|
|
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp)
|
rs988433554
|
|
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val)
|
rs988433554
|
|
NM_000263.4(NAGLU):c.780C>A (p.Val260=)
|
|
|
NM_000263.4(NAGLU):c.780C>T (p.Val260=)
|
rs1411789843
|
|
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
|
|
|
NM_000263.4(NAGLU):c.786C>T (p.Val262=)
|
rs1599258325
|
|
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala)
|
rs2143097981
|
|
NM_000263.4(NAGLU):c.789G>A (p.Thr263=)
|
rs746543896
|
|
NM_000263.4(NAGLU):c.78C>G (p.Ala26=)
|
rs2092905964
|
|
NM_000263.4(NAGLU):c.792G>A (p.Lys264=)
|
rs2092920064
|
|
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)
|
rs968875282
|
|
NM_000263.4(NAGLU):c.801T>C (p.Ser267=)
|
rs2143098123
|
|
NM_000263.4(NAGLU):c.807C>T (p.Gly269=)
|
rs2092920125
|
|
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
|
|
|
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
|
|
|
NM_000263.4(NAGLU):c.81G>C (p.Arg27=)
|
rs1021204618
|
|
NM_000263.4(NAGLU):c.81G>T (p.Arg27=)
|
|
|
NM_000263.4(NAGLU):c.820del (p.Ser274fs)
|
rs1452185692
|
|
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys)
|
rs1025860195
|
|
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
rs2092905949
|
|
NM_000263.4(NAGLU):c.82dup (p.Glu28fs)
|
|
|
NM_000263.4(NAGLU):c.830_832del (p.Cys277del)
|
rs398123282
|
|
NM_000263.4(NAGLU):c.831C>T (p.Cys277=)
|
rs1555622008
|
|
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
|
|
|
NM_000263.4(NAGLU):c.843G>C (p.Leu281=)
|
rs2143098501
|
|
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
|
|
|
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
|
|
|
NM_000263.4(NAGLU):c.855C>T (p.Asp285=)
|
|
|
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
|
|
|
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val)
|
rs2143098654
|
|
NM_000263.4(NAGLU):c.870C>T (p.Ile290=)
|
|
|
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu)
|
rs1209988199
|
|
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
|
|
|
NM_000263.4(NAGLU):c.87G>A (p.Ala29=)
|
rs2092905997
|
|
NM_000263.4(NAGLU):c.882C>T (p.Leu294=)
|
|
|
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
|
|
|
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
|
|
|
NM_000263.4(NAGLU):c.886C>T (p.Leu296=)
|
|
|
NM_000263.4(NAGLU):c.886del (p.Leu296fs)
|
rs752131463
|
|
NM_000263.4(NAGLU):c.888G>A (p.Leu296=)
|
rs2143098928
|
|
NM_000263.4(NAGLU):c.897G>T (p.Leu299=)
|
rs2143098987
|
|
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
|
|
|
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val)
|
rs2092905628
|
|
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
|
rs2092920511
|
|
NM_000263.4(NAGLU):c.90G>A (p.Ala30=)
|
rs2143075591
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His)
|
rs2143099180
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=)
|
rs1599258507
|
|
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)
|
|
|
NM_000263.4(NAGLU):c.930G>A (p.Gly310=)
|
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000263.4(NAGLU):c.933C>T (p.Ala311=)
|
rs115888189
|
|
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
|
|
|
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
|
|
|
NM_000263.4(NAGLU):c.939T>A (p.Thr313=)
|
|
|
NM_000263.4(NAGLU):c.93C>T (p.Ala31=)
|
|
|
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val)
|
rs104894600
|
|
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser)
|
rs1181487342
|
|
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys)
|
rs2143099484
|
|
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
|
|
|
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs)
|
rs2143099555
|
|
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)
|
|
|
NM_000263.4(NAGLU):c.957A>T (p.Pro319=)
|
rs2143099579
|
|
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
|
|
|
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
|
|
|
NM_000263.4(NAGLU):c.963C>A (p.Ser321=)
|
rs760910696
|
|
NM_000263.4(NAGLU):c.966A>C (p.Ser322=)
|
|
|
NM_000263.4(NAGLU):c.969G>A (p.Glu323=)
|
rs1474272372
|
|
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
|
|
|
NM_000263.4(NAGLU):c.975C>A (p.Ser325=)
|
|
|
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
|
|
|
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
|
|
|
NM_000263.4(NAGLU):c.987A>G (p.Ala329=)
|
rs2143099825
|
|
NM_000263.4(NAGLU):c.990C>T (p.Ala330=)
|
|
|
NM_000263.4(NAGLU):c.993C>G (p.Thr331=)
|
|
|
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
|
|
|
NM_000263.4(NAGLU):c.996T>C (p.Thr332=)
|
rs764483473
|
|
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs)
|
|
|
NM_000263.4(NAGLU):c.99G>A (p.Arg33=)
|
rs2143075635
|
|
NM_000263.4(NAGLU):c.9G>A (p.Ala3=)
|
rs1366797084
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_001005361.3(DNM2):c.-23_12del (p.Met1fs)
|
|
|
NM_001005361.3(DNM2):c.1010G>T (p.Gly337Val)
|
rs767838513
|
|
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
|
rs753224039
|
|
NM_001005361.3(DNM2):c.1016A>G (p.Asp339Gly)
|
rs1568304280
|
|
NM_001005361.3(DNM2):c.102C>G (p.Ile34Met)
|
rs552741402
|
|
NM_001005361.3(DNM2):c.1033G>A (p.Glu345Lys)
|
|
|
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
|
rs2071834284
|
|
NM_001005361.3(DNM2):c.1048C>G (p.Gln350Glu)
|
rs2071834543
|
|
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176
|
|
NM_001005361.3(DNM2):c.1058C>A (p.Thr353Asn)
|
|
|
NM_001005361.3(DNM2):c.105T>A (p.Ala35=)
|
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1074G>T (p.Gly358=)
|
rs750577663
|
|
NM_001005361.3(DNM2):c.1078G>A (p.Ala360Thr)
|
|
|
NM_001005361.3(DNM2):c.1086C>T (p.Ile362=)
|
rs2146014183
|
|
NM_001005361.3(DNM2):c.1088A>G (p.Asn363Ser)
|
rs2146014211
|
|
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
|
rs1568304333
|
|
NM_001005361.3(DNM2):c.1091G>A (p.Arg364His)
|
rs2071835414
|
|
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)
|
|
|
NM_001005361.3(DNM2):c.1092C>T (p.Arg364=)
|
rs2146014258
|
|
NM_001005361.3(DNM2):c.1093A>G (p.Ile365Val)
|
|
|
NM_001005361.3(DNM2):c.1095C>T (p.Ile365=)
|
|
|
NM_001005361.3(DNM2):c.109G>T (p.Val37Leu)
|
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089
|
|
NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser)
|
rs2146014404
|
|
NM_001005361.3(DNM2):c.1124T>C (p.Val375Ala)
|
rs587783594
|
|
NM_001005361.3(DNM2):c.1128+10C>A
|
rs1010041153
|
|
NM_001005361.3(DNM2):c.1128+12C>G
|
|
|
NM_001005361.3(DNM2):c.1128+12dup
|
|
|
NM_001005361.3(DNM2):c.1128+13_1128+14insA
|
|
|
NM_001005361.3(DNM2):c.1128+15G>T
|
rs2146014756
|
|
NM_001005361.3(DNM2):c.1128+16G>T
|
|
|
NM_001005361.3(DNM2):c.1128+7C>G
|
rs772959277
|
|
NM_001005361.3(DNM2):c.1131G>A (p.Met377Ile)
|
rs2146022673
|
|
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
|
rs1223342362
|
|
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
|
rs2071896749
|
|
NM_001005361.3(DNM2):c.1146G>A (p.Lys382=)
|
|
|
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr)
|
rs1568305190
|
|
NM_001005361.3(DNM2):c.114C>A (p.Gly38=)
|
|
|
NM_001005361.3(DNM2):c.1156C>T (p.Arg386Trp)
|
|
|
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
|
rs2071897159
|
|
NM_001005361.3(DNM2):c.1167C>T (p.Ser389=)
|
rs2146022764
|
|
NM_001005361.3(DNM2):c.1170T>C (p.Tyr390=)
|
rs765373844
|
|
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr)
|
rs2071897365
|
|
NM_001005361.3(DNM2):c.1187A>G (p.His396Arg)
|
|
|
NM_001005361.3(DNM2):c.1188T>C (p.His396=)
|
rs1039592560
|
|
NM_001005361.3(DNM2):c.1191A>C (p.Gly397=)
|
|
|
NM_001005361.3(DNM2):c.1196+13A>G
|
|
|
NM_001005361.3(DNM2):c.1196+4A>G
|
|
|
NM_001005361.3(DNM2):c.1196+606G>C
|
|
|
NM_001005361.3(DNM2):c.1196+613C>G
|
|
|
NM_001005361.3(DNM2):c.1196+615G>A
|
|
|
NM_001005361.3(DNM2):c.1196+619C>T
|
rs748695148
|
|
NM_001005361.3(DNM2):c.1196+628G>T
|
rs374376619
|
|
NM_001005361.3(DNM2):c.1196+634C>T
|
rs2146025884
|
|
NM_001005361.3(DNM2):c.1196+643C>T
|
rs563985581
|
|
NM_001005361.3(DNM2):c.1196+646G>A
|
|
|
NM_001005361.3(DNM2):c.1196+655G>A
|
|
|
NM_001005361.3(DNM2):c.1196+660T>C
|
rs2146025971
|
|
NM_001005361.3(DNM2):c.1196+676C>G
|
|
|
NM_001005361.3(DNM2):c.1196+676C>T
|
|
|
NM_001005361.3(DNM2):c.1196+680A>G
|
rs2071923540
|
|
NM_001005361.3(DNM2):c.1196+681A>C
|
rs931176769
|
|
NM_001005361.3(DNM2):c.1196+681A>G
|
rs931176769
|
|
NM_001005361.3(DNM2):c.1196+686A>G
|
|
|
NM_001005361.3(DNM2):c.1196+698C>T
|
|
|
NM_001005361.3(DNM2):c.1196+700G>A
|
|
|
NM_001005361.3(DNM2):c.1196+701A>T
|
|
|
NM_001005361.3(DNM2):c.1196+704T>C
|
rs1409309807
|
|
NM_001005361.3(DNM2):c.1196+707G>C
|
rs2071924630
|
|
NM_001005361.3(DNM2):c.1196+708T>C
|
|
|
NM_001005361.3(DNM2):c.1196+715G>A
|
rs1338938129
|
|
NM_001005361.3(DNM2):c.1196+723A>G
|
|
|
NM_001005361.3(DNM2):c.1196+729T>G
|
rs1555710681
|
|
NM_001005361.3(DNM2):c.1196+730A>G
|
rs1599570127
|
|
NM_001005361.3(DNM2):c.1196+740G>T
|
rs2146026442
|
|
NM_001005361.3(DNM2):c.1196+745G>T
|
|
|
NM_001005361.3(DNM2):c.1196+751T>C
|
|
|
NM_001005361.3(DNM2):c.1196+754C>T
|
|
|
NM_001005361.3(DNM2):c.1196+761G>A
|
rs1431565635
|
|
NM_001005361.3(DNM2):c.1196+770C>T
|
|
|
NM_001005361.3(DNM2):c.1196+774G>A
|
|
|
NM_001005361.3(DNM2):c.1196+775G>A
|
|
|
NM_001005361.3(DNM2):c.1196+7del
|
rs768397600
|
|
NM_001005361.3(DNM2):c.126C>A (p.Ala42=)
|
|
|
NM_001005361.3(DNM2):c.1336-10G>T
|
rs2146038714
|
|
NM_001005361.3(DNM2):c.1336-3C>A
|
rs2146038756
|
|
NM_001005361.3(DNM2):c.1336-5C>G
|
|
|
NM_001005361.3(DNM2):c.1336-5C>T
|
|
|
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr)
|
rs2072020474
|
|
NM_001005361.3(DNM2):c.1344C>T (p.Ser448=)
|
|
|
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
|
rs749154067
|
|
NM_001005361.3(DNM2):c.1354T>C (p.Leu452=)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1356G>A (p.Leu452=)
|
rs2072021007
|
|
NM_001005361.3(DNM2):c.1356G>T (p.Leu452Phe)
|
|
|
NM_001005361.3(DNM2):c.1365G>A (p.Glu455=)
|
rs2146038840
|
|
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly)
|
rs1555711301
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.1385C>T (p.Thr462Ile)
|
|
|
NM_001005361.3(DNM2):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_001005361.3(DNM2):c.1389C>T (p.Tyr463=)
|
|
|
NM_001005361.3(DNM2):c.1392C>A (p.Ile464=)
|
rs2146038976
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1400G>T (p.Arg467Leu)
|
|
|
NM_001005361.3(DNM2):c.1422+17T>C
|
rs371841391
|
|
NM_001005361.3(DNM2):c.1422+6G>A
|
rs2146039132
|
|
NM_001005361.3(DNM2):c.1422+8_1422+14del
|
rs2146039160
|
|
NM_001005361.3(DNM2):c.1423-1G>T
|
rs2072180672
|
|
NM_001005361.3(DNM2):c.1423-8T>C
|
rs1599583116
|
|
NM_001005361.3(DNM2):c.1425T>C (p.Ile475=)
|
|
|
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile)
|
rs1568309121
|
|
NM_001005361.3(DNM2):c.142C>T (p.Leu48=)
|
rs753989925
|
|
NM_001005361.3(DNM2):c.1434G>A (p.Leu478=)
|
|
|
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
|
rs764027808
|
|
NM_001005361.3(DNM2):c.1438G>C (p.Asp480His)
|
|
|
NM_001005361.3(DNM2):c.1442T>C (p.Ile481Thr)
|
|
|
NM_001005361.3(DNM2):c.1451C>G (p.Ser484Cys)
|
rs2146061357
|
|
NM_001005361.3(DNM2):c.1455C>T (p.Tyr485=)
|
|
|
NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg)
|
rs746903992
|
|
NM_001005361.3(DNM2):c.1463C>T (p.Thr488Met)
|
rs746903992
|
|
NM_001005361.3(DNM2):c.1464G>A (p.Thr488=)
|
|
|
NM_001005361.3(DNM2):c.1480A>G (p.Ile494Val)
|
rs2146061452
|
|
NM_001005361.3(DNM2):c.1482C>A (p.Ile494=)
|
rs377458236
|
|
NM_001005361.3(DNM2):c.1483G>A (p.Gly495Arg)
|
|
|
NM_001005361.3(DNM2):c.1485G>T (p.Gly495=)
|
|
|
NM_001005361.3(DNM2):c.1493+14G>A
|
|
|
NM_001005361.3(DNM2):c.1493+18C>T
|
|
|
NM_001005361.3(DNM2):c.1493+5G>A
|
rs2072182574
|
|
NM_001005361.3(DNM2):c.1493+7A>G
|
|
|
NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr)
|
|
|
NM_001005361.3(DNM2):c.1494-14T>C
|
|
|
NM_001005361.3(DNM2):c.1494-15G>T
|
|
|
NM_001005361.3(DNM2):c.1494-16_1494-13del
|
|
|
NM_001005361.3(DNM2):c.1494-20T>C
|
|
|
NM_001005361.3(DNM2):c.1494-6T>C
|
rs2146080287
|
|
NM_001005361.3(DNM2):c.1506G>A (p.Arg502=)
|
|
|
NM_001005361.3(DNM2):c.1514del (p.Gln505fs)
|
rs2146080349
|
|
NM_001005361.3(DNM2):c.1521C>A (p.Asn507Lys)
|
|
|
NM_001005361.3(DNM2):c.1523A>G (p.Lys508Arg)
|
|
|
NM_001005361.3(DNM2):c.1523AGA[1] (p.Lys509del)
|
rs752875857
|
|
NM_001005361.3(DNM2):c.1524G>C (p.Lys508Asn)
|
|
|
NM_001005361.3(DNM2):c.1526A>G (p.Lys509Arg)
|
rs1555712608
|
|
NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)
|
|
|
NM_001005361.3(DNM2):c.1536C>T (p.Ile512=)
|
|
|
NM_001005361.3(DNM2):c.1545+14C>T
|
rs114713494
|
|
NM_001005361.3(DNM2):c.1545+17C>A
|
|
|
NM_001005361.3(DNM2):c.1545+17C>T
|
|
|
NM_001005361.3(DNM2):c.1545+18del
|
rs2146080581
|
|
NM_001005361.3(DNM2):c.1545+7C>A
|
|
|
NM_001005361.3(DNM2):c.1546-18A>C
|
rs1426762153
|
|
NM_001005361.3(DNM2):c.1552A>G (p.Ile518Val)
|
rs753402698
|
|
NM_001005361.3(DNM2):c.1555C>T (p.Leu519=)
|
|
|
NM_001005361.3(DNM2):c.1557+10_1557+15dup
|
rs2146093632
|
|
NM_001005361.3(DNM2):c.1557+20G>A
|
|
|
NM_001005361.3(DNM2):c.1557+9A>T
|
rs778469445
|
|
NM_001005361.3(DNM2):c.1558-11C>A
|
|
|
NM_001005361.3(DNM2):c.1558-12G>A
|
|
|
NM_001005361.3(DNM2):c.1558-16G>A
|
|
|
NM_001005361.3(DNM2):c.1558-16G>T
|
|
|
NM_001005361.3(DNM2):c.1558-5C>T
|
|
|
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu)
|
rs2072577212
|
|
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)
|
rs2072577342
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001005361.3(DNM2):c.1570G>C (p.Gly524Arg)
|
|
|
NM_001005361.3(DNM2):c.1584C>T (p.Ile528=)
|
rs935512495
|
|
NM_001005361.3(DNM2):c.1586ACA[1] (p.Asn530del)
|
rs1342132509
|
|
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly)
|
rs368752035
|
|
NM_001005361.3(DNM2):c.1601T>G (p.Met534Arg)
|
|
|
NM_001005361.3(DNM2):c.1606G>A (p.Gly536Ser)
|
rs2072578382
|
|
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)
|
rs121909093
|
|
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
|
rs1295054396
|
|
NM_001005361.3(DNM2):c.161+12_161+29dup
|
rs750378486
|
|
NM_001005361.3(DNM2):c.161+14G>A
|
|
|
NM_001005361.3(DNM2):c.161+3G>A
|
rs1555696272
|
|
NM_001005361.3(DNM2):c.161+7G>T
|
rs2145638077
|
|
NM_001005361.3(DNM2):c.1616A>T (p.Lys539Met)
|
rs1568314284
|
|
NM_001005361.3(DNM2):c.162-13C>T
|
|
|
NM_001005361.3(DNM2):c.162-15C>T
|
|
|
NM_001005361.3(DNM2):c.162-7C>A
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7C>G
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7C>T
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7dup
|
|
|
NM_001005361.3(DNM2):c.162-8C>A
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-8C>G
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-8C>T
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-9C>G
|
rs200736669
|
|
NM_001005361.3(DNM2):c.162-9C>T
|
|
|
NM_001005361.3(DNM2):c.162G>A (p.Arg54=)
|
|
|
NM_001005361.3(DNM2):c.162G>C (p.Arg54=)
|
rs762111033
|
|
NM_001005361.3(DNM2):c.1641C>T (p.Ala547=)
|
rs538253489
|
|
NM_001005361.3(DNM2):c.1663G>A (p.Asp555Asn)
|
|
|
NM_001005361.3(DNM2):c.1664_1671+1del
|
rs1568314339
|
|
NM_001005361.3(DNM2):c.1671+16G>T
|
|
|
NM_001005361.3(DNM2):c.1671+18G>T
|
rs2146112377
|
|
NM_001005361.3(DNM2):c.1671+3G>A
|
|
|
NM_001005361.3(DNM2):c.1671+3G>C
|
rs942932745
|
|
NM_001005361.3(DNM2):c.1672-13C>T
|
|
|
NM_001005361.3(DNM2):c.1672-16T>C
|
|
|
NM_001005361.3(DNM2):c.1672-16_1672-15del
|
|
|
NM_001005361.3(DNM2):c.1672-19_1672-16del
|
rs771706714
|
|
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)
|
rs879254086
|
|
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del)
|
rs1599620408
|
|
NM_001005361.3(DNM2):c.1686G>A (p.Lys562=)
|
|
|
NM_001005361.3(DNM2):c.168C>T (p.Phe56=)
|
|
|
NM_001005361.3(DNM2):c.1696C>A (p.Pro566Thr)
|
|
|
NM_001005361.3(DNM2):c.1697C>T (p.Pro566Leu)
|
|
|
NM_001005361.3(DNM2):c.1699C>T (p.Leu567=)
|
rs1477679266
|
|
NM_001005361.3(DNM2):c.16A>G (p.Met6Val)
|
|
|
NM_001005361.3(DNM2):c.1705A>C (p.Asn569His)
|
|
|
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
|
rs2072921679
|
|
NM_001005361.3(DNM2):c.170_192del (p.Leu57fs)
|
rs2145855560
|
|
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
|
|
|
NM_001005361.3(DNM2):c.1713G>T (p.Lys571Asn)
|
|
|
NM_001005361.3(DNM2):c.1717C>T (p.Arg573Cys)
|
|
|
NM_001005361.3(DNM2):c.1718G>A (p.Arg573His)
|
rs1555715216
|
|
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
|
rs1300578677
|
|
NM_001005361.3(DNM2):c.1723G>A (p.Val575Met)
|
|
|
NM_001005361.3(DNM2):c.1725G>A (p.Val575=)
|
rs1322970848
|
|
NM_001005361.3(DNM2):c.1726G>A (p.Glu576Lys)
|
|
|
NM_001005361.3(DNM2):c.1731G>C (p.Lys577Asn)
|
rs35365412
|
|
NM_001005361.3(DNM2):c.1732G>A (p.Gly578Ser)
|
|
|
NM_001005361.3(DNM2):c.1734C>T (p.Gly578=)
|
|
|
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
|
rs2072922521
|
|
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr)
|
rs1269225724
|
|
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu)
|
rs1568318798
|
|
NM_001005361.3(DNM2):c.174C>T (p.Pro58=)
|
rs773480707
|
|
NM_001005361.3(DNM2):c.1753G>A (p.Val585Ile)
|
rs762777422
|
|
NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)
|
|
|
NM_001005361.3(DNM2):c.177C>T (p.Arg59=)
|
rs762795230
|
|
NM_001005361.3(DNM2):c.1781+10C>G
|
|
|
NM_001005361.3(DNM2):c.1781+12del
|
|
|
NM_001005361.3(DNM2):c.1781+13G>A
|
rs1316933028
|
|
NM_001005361.3(DNM2):c.1781+14G>A
|
|
|
NM_001005361.3(DNM2):c.1781+6G>C
|
|
|
NM_001005361.3(DNM2):c.1781+6G>T
|
rs1568318838
|
|
NM_001005361.3(DNM2):c.1782-10C>A
|
|
|
NM_001005361.3(DNM2):c.1782-11C>A
|
|
|
NM_001005361.3(DNM2):c.1782-16C>T
|
|
|
NM_001005361.3(DNM2):c.1782-4G>C
|
rs767424969
|
|
NM_001005361.3(DNM2):c.1782-5del
|
rs760441017
|
|
NM_001005361.3(DNM2):c.1782-5dup
|
rs760441017
|
|
NM_001005361.3(DNM2):c.1782-7C>A
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1782-7C>G
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1782-7C>T
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1798C>T (p.Leu600=)
|
|
|
NM_001005361.3(DNM2):c.1801C>T (p.Arg601Trp)
|
|
|
NM_001005361.3(DNM2):c.1806G>C (p.Gln602His)
|
rs2073058875
|
|
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met)
|
rs780409124
|
|
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys)
|
rs951875086
|
|
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser)
|
rs2146181196
|
|
NM_001005361.3(DNM2):c.1847G>A (p.Trp616Ter)
|
|
|
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)
|
rs1555715869
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)
|
rs587783597
|
|
NM_001005361.3(DNM2):c.1871G>T (p.Gly624Val)
|
|
|
NM_001005361.3(DNM2):c.187A>G (p.Ile63Val)
|
|
|
NM_001005361.3(DNM2):c.1881C>T (p.Pro627=)
|
rs767496363
|
|
NM_001005361.3(DNM2):c.1882G>A (p.Glu628Lys)
|
rs775361247
|
|
NM_001005361.3(DNM2):c.1893+10C>A
|
|
|
NM_001005361.3(DNM2):c.1893+1G>A
|
rs2073061878
|
|
NM_001005361.3(DNM2):c.1893+9C>T
|
|
|
NM_001005361.3(DNM2):c.1894-11C>A
|
|
|
NM_001005361.3(DNM2):c.1894-12T>G
|
rs2073097418
|
|
NM_001005361.3(DNM2):c.1894-13_1894-12insA
|
|
|
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315
|
|
NM_001005361.3(DNM2):c.1905G>A (p.Glu635=)
|
|
|
NM_001005361.3(DNM2):c.1906G>A (p.Asp636Asn)
|
|
|
NM_001005361.3(DNM2):c.1923C>T (p.Asn641=)
|
|
|
NM_001005361.3(DNM2):c.1938C>A (p.Asp646Glu)
|
|
|
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
|
rs2073098775
|
|
NM_001005361.3(DNM2):c.1952G>A (p.Arg651Gln)
|
rs1568321851
|
|
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
|
rs776410455
|
|
NM_001005361.3(DNM2):c.1967T>C (p.Ile656Thr)
|
|
|
NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp)
|
|
|
NM_001005361.3(DNM2):c.1970G>A (p.Arg657His)
|
rs2146188021
|
|
NM_001005361.3(DNM2):c.1971C>T (p.Arg657=)
|
rs559056873
|
|
NM_001005361.3(DNM2):c.1977G>A (p.Leu659=)
|
|
|
NM_001005361.3(DNM2):c.1992G>C (p.Val664=)
|
|
|
NM_001005361.3(DNM2):c.1995C>T (p.Ala665=)
|
rs2073100795
|
|
NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met)
|
rs2073100886
|
|
NM_001005361.3(DNM2):c.19G>C (p.Glu7Gln)
|
rs1008731390
|
|
NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln)
|
rs752080566
|
|
NM_001005361.3(DNM2):c.2011A>G (p.Ile671Val)
|
rs1568321953
|
|
NM_001005361.3(DNM2):c.2014C>T (p.Arg672Cys)
|
|
|
NM_001005361.3(DNM2):c.2023A>G (p.Met675Val)
|
rs1555716140
|
|
NM_001005361.3(DNM2):c.2034C>G (p.Thr678=)
|
|
|
NM_001005361.3(DNM2):c.2041C>A (p.His681Asn)
|
rs1437296623
|
|
NM_001005361.3(DNM2):c.2047A>G (p.Met683Val)
|
|
|
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser)
|
rs2073102227
|
|
NM_001005361.3(DNM2):c.2058+3G>A
|
rs747966753
|
|
NM_001005361.3(DNM2):c.2058T>G (p.Asn686Lys)
|
rs1368089327
|
|
NM_001005361.3(DNM2):c.2059-13C>A
|
|
|
NM_001005361.3(DNM2):c.2059-8G>A
|
rs1217572149
|
|
NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe)
|
rs2145855703
|
|
NM_001005361.3(DNM2):c.2060C>T (p.Thr687Met)
|
|
|
NM_001005361.3(DNM2):c.2061G>T (p.Thr687=)
|
rs149164657
|
|
NM_001005361.3(DNM2):c.2064G>A (p.Lys688=)
|
rs930737609
|
|
NM_001005361.3(DNM2):c.2079C>T (p.His693=)
|
rs777872270
|
|
NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)
|
|
|
NM_001005361.3(DNM2):c.2095C>T (p.Leu699=)
|
|
|
NM_001005361.3(DNM2):c.2100C>T (p.Tyr700=)
|
rs756845145
|
|
NM_001005361.3(DNM2):c.2100CTC[1] (p.Ser702del)
|
rs1324559612
|
|
NM_001005361.3(DNM2):c.2102C>T (p.Ser701Phe)
|
|
|
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
|
rs554971107
|
|
NM_001005361.3(DNM2):c.2106G>T (p.Ser702=)
|
rs554971107
|
|
NM_001005361.3(DNM2):c.2107G>A (p.Ala703Thr)
|
rs1299975305
|
|
NM_001005361.3(DNM2):c.210T>C (p.Ile70=)
|
rs878854149
|
|
NM_001005361.3(DNM2):c.2110G>A (p.Asp704Asn)
|
|
|
NM_001005361.3(DNM2):c.2116A>T (p.Ser706Cys)
|
rs2146205490
|
|
NM_001005361.3(DNM2):c.2121C>T (p.Ser707=)
|
|
|
NM_001005361.3(DNM2):c.2133G>A (p.Glu711=)
|
|
|
NM_001005361.3(DNM2):c.2136G>A (p.Ser712=)
|
rs1555716924
|
|
NM_001005361.3(DNM2):c.2136G>T (p.Ser712=)
|
rs1555716924
|
|
NM_001005361.3(DNM2):c.2139T>G (p.Ala713=)
|
rs2229920
|
|
NM_001005361.3(DNM2):c.2144A>G (p.Gln715Arg)
|
rs374041367
|
|
NM_001005361.3(DNM2):c.2144A>T (p.Gln715Leu)
|
|
|
NM_001005361.3(DNM2):c.2146G>C (p.Ala716Pro)
|
|
|
NM_001005361.3(DNM2):c.2147C>T (p.Ala716Val)
|
|
|
NM_001005361.3(DNM2):c.2156G>A (p.Arg719Gln)
|
|
|
NM_001005361.3(DNM2):c.2157G>A (p.Arg719=)
|
|
|
NM_001005361.3(DNM2):c.2159del (p.Asp720fs)
|
|
|
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
|
rs1012446714
|
|
NM_001005361.3(DNM2):c.2163C>T (p.Asp721=)
|
rs770491381
|
|
NM_001005361.3(DNM2):c.2168T>A (p.Leu723Gln)
|
|
|
NM_001005361.3(DNM2):c.2170C>T (p.Arg724Cys)
|
|
|
NM_001005361.3(DNM2):c.2171G>A (p.Arg724His)
|
rs1160341992
|
|
NM_001005361.3(DNM2):c.2174T>C (p.Met725Thr)
|
|
|
NM_001005361.3(DNM2):c.2178C>T (p.Tyr726=)
|
|
|
NM_001005361.3(DNM2):c.2180A>G (p.His727Arg)
|
|
|
NM_001005361.3(DNM2):c.2185C>G (p.Leu729Val)
|
|
|
NM_001005361.3(DNM2):c.2197C>T (p.Leu733Phe)
|
rs1568324227
|
|
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val)
|
rs2073249809
|
|
NM_001005361.3(DNM2):c.2229T>C (p.Thr743=)
|
|
|
NM_001005361.3(DNM2):c.2233T>A (p.Ser745Thr)
|
rs1568324267
|
|
NM_001005361.3(DNM2):c.2235C>T (p.Ser745=)
|
rs2146205946
|
|
NM_001005361.3(DNM2):c.2238G>A (p.Thr746=)
|
|
|
NM_001005361.3(DNM2):c.2238G>T (p.Thr746=)
|
rs370550750
|
|
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
|
rs773884005
|
|
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His)
|
rs765111629
|
|
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr)
|
rs1173091380
|
|
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
|
rs375350902
|
|
NM_001005361.3(DNM2):c.2250G>A (p.Pro750=)
|
rs1446564477
|
|
NM_001005361.3(DNM2):c.2252C>A (p.Pro751His)
|
|
|
NM_001005361.3(DNM2):c.2253T>G (p.Pro751=)
|
|
|
NM_001005361.3(DNM2):c.2257G>T (p.Asp753Tyr)
|
rs368325934
|
|
NM_001005361.3(DNM2):c.2259T>C (p.Asp753=)
|
|
|
NM_001005361.3(DNM2):c.2264C>A (p.Thr755Asn)
|
rs754691182
|
|
NM_001005361.3(DNM2):c.2274G>T (p.Gln758His)
|
rs2146206095
|
|
NM_001005361.3(DNM2):c.2277C>T (p.Ser759=)
|
rs757565933
|
|
NM_001005361.3(DNM2):c.2278G>A (p.Ala760Thr)
|
rs779315825
|
|
NM_001005361.3(DNM2):c.2286C>A (p.Ser762Arg)
|
rs1568324385
|
|
NM_001005361.3(DNM2):c.2291+16T>G
|
rs2146206194
|
|
NM_001005361.3(DNM2):c.2291+19C>T
|
|
|
NM_001005361.3(DNM2):c.2292-12C>T
|
|
|
NM_001005361.3(DNM2):c.2292-16C>G
|
rs2073285352
|
|
NM_001005361.3(DNM2):c.2292-18C>A
|
|
|
NM_001005361.3(DNM2):c.2292-3C>T
|
|
|
NM_001005361.3(DNM2):c.2292-7C>G
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2292-7C>T
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2292-8C>A
|
rs757620658
|
|
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
|
rs2073286326
|
|
NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)
|
|
|
NM_001005361.3(DNM2):c.2308C>T (p.Arg770Ter)
|
rs1599641077
|
|
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
|
rs1862203120
|
|
NM_001005361.3(DNM2):c.231A>C (p.Lys77Asn)
|
rs2145855757
|
|
NM_001005361.3(DNM2):c.2323A>C (p.Ile775Leu)
|
rs773124483
|
|
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
|
rs766387630
|
|
NM_001005361.3(DNM2):c.2328C>T (p.His776=)
|
rs766387630
|
|
NM_001005361.3(DNM2):c.2332C>A (p.Pro778Thr)
|
rs774220956
|
|
NM_001005361.3(DNM2):c.2334T>C (p.Pro778=)
|
rs2146209802
|
|
NM_001005361.3(DNM2):c.2335G>A (p.Gly779Ser)
|
|
|
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
|
rs1221582515
|
|
NM_001005361.3(DNM2):c.2340G>T (p.Arg780=)
|
|
|
NM_001005361.3(DNM2):c.2349A>T (p.Ala783=)
|
rs2073288189
|
|
NM_001005361.3(DNM2):c.235+10G>A
|
rs769906659
|
|
NM_001005361.3(DNM2):c.235+12C>G
|
rs147026993
|
|
NM_001005361.3(DNM2):c.235+12C>T
|
rs147026993
|
|
NM_001005361.3(DNM2):c.235+13G>A
|
|
|
NM_001005361.3(DNM2):c.235+13G>T
|
|
|
NM_001005361.3(DNM2):c.235+14G>A
|
rs2145855889
|
|
NM_001005361.3(DNM2):c.235+4A>G
|
|
|
NM_001005361.3(DNM2):c.2352G>A (p.Val784=)
|
rs2146209880
|
|
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)
|
rs1555717200
|
|
NM_001005361.3(DNM2):c.2357G>T (p.Gly786Val)
|
|
|
NM_001005361.3(DNM2):c.2358C>T (p.Gly786=)
|
|
|
NM_001005361.3(DNM2):c.2359C>G (p.Pro787Ala)
|
rs752357434
|
|
NM_001005361.3(DNM2):c.236-10C>A
|
rs1478094557
|
|
NM_001005361.3(DNM2):c.236-18T>C
|
|
|
NM_001005361.3(DNM2):c.236-20C>T
|
|
|
NM_001005361.3(DNM2):c.2364T>C (p.Thr788=)
|
|
|
NM_001005361.3(DNM2):c.2372C>A (p.Pro791His)
|
rs780738840
|
|
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu)
|
rs780738840
|
|
NM_001005361.3(DNM2):c.2377_2378del (p.Leu793fs)
|
|
|
NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer)
|
rs764391392
|
|
NM_001005361.3(DNM2):c.2378T>C (p.Leu793Pro)
|
|
|
NM_001005361.3(DNM2):c.2378del (p.Leu793fs)
|
rs2073289875
|
|
NM_001005361.3(DNM2):c.2383C>G (p.Pro795Ala)
|
|
|
NM_001005361.3(DNM2):c.2389C>A (p.Pro797Thr)
|
|
|
NM_001005361.3(DNM2):c.2390C>T (p.Pro797Leu)
|
|
|
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
|
rs2073290642
|
|
NM_001005361.3(DNM2):c.2397G>T (p.Gly799=)
|
|
|
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
|
|
|
NM_001005361.3(DNM2):c.2406C>T (p.Ala802=)
|
rs2146210111
|
|
NM_001005361.3(DNM2):c.2411_2413del (p.Phe804del)
|
rs752014734
|
|
NM_001005361.3(DNM2):c.2420C>T (p.Pro807Leu)
|
|
|
NM_001005361.3(DNM2):c.2435G>A (p.Arg812Gln)
|
rs1285468865
|
|
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
|
rs2073292666
|
|
NM_001005361.3(DNM2):c.243C>G (p.Ala81=)
|
|
|
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser)
|
rs1438459794
|
|
NM_001005361.3(DNM2):c.2448G>A (p.Gln816=)
|
|
|
NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)
|
|
|
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
|
rs751961437
|
|
NM_001005361.3(DNM2):c.2451C>T (p.Ser817=)
|
rs751961437
|
|
NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)
|
|
|
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn)
|
rs1301279979
|
|
NM_001005361.3(DNM2):c.2466T>C (p.Ser822=)
|
|
|
NM_001005361.3(DNM2):c.246G>A (p.Glu82=)
|
|
|
NM_001005361.3(DNM2):c.2472C>G (p.Leu824=)
|
rs2146210362
|
|
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr)
|
rs1599641452
|
|
NM_001005361.3(DNM2):c.2495C>T (p.Pro832Leu)
|
rs2073294248
|
|
NM_001005361.3(DNM2):c.2499T>C (p.Ser833=)
|
|
|
NM_001005361.3(DNM2):c.2500C>A (p.Arg834=)
|
|
|
NM_001005361.3(DNM2):c.2513T>G (p.Ile838Ser)
|
|
|
NM_001005361.3(DNM2):c.2526T>A (p.Ile842=)
|
rs1173105671
|
|
NM_001005361.3(DNM2):c.2526T>C (p.Ile842=)
|
|
|
NM_001005361.3(DNM2):c.2526T>G (p.Ile842Met)
|
|
|
NM_001005361.3(DNM2):c.2527C>T (p.Pro843Ser)
|
rs2146210571
|
|
NM_001005361.3(DNM2):c.2531C>T (p.Pro844Leu)
|
rs1398139585
|
|
NM_001005361.3(DNM2):c.2534G>T (p.Gly845Val)
|
|
|
NM_001005361.3(DNM2):c.2543+1G>A
|
rs2146210623
|
|
NM_001005361.3(DNM2):c.2543+5G>C
|
rs2073295708
|
|
NM_001005361.3(DNM2):c.2544-12T>C
|
|
|
NM_001005361.3(DNM2):c.2544-15T>C
|
|
|
NM_001005361.3(DNM2):c.2544-3C>T
|
rs2073330199
|
|
NM_001005361.3(DNM2):c.2553C>T (p.Pro851=)
|
|
|
NM_001005361.3(DNM2):c.2555C>G (p.Pro852Arg)
|
|
|
NM_001005361.3(DNM2):c.2555C>T (p.Pro852Leu)
|
|
|
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354
|
|
NM_001005361.3(DNM2):c.2571G>A (p.Arg857=)
|
|
|
NM_001005361.3(DNM2):c.2571_2593del (p.Pro858fs)
|
|
|
NM_001005361.3(DNM2):c.2571_2593dup (p.Glu865fs)
|
rs2146213977
|
|
NM_001005361.3(DNM2):c.2572C>T (p.Pro858Ser)
|
|
|
NM_001005361.3(DNM2):c.2573C>A (p.Pro858His)
|
rs2146214048
|
|
NM_001005361.3(DNM2):c.2573C>T (p.Pro858Leu)
|
rs2146214048
|
|
NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del)
|
rs1599643472
|
|
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del)
|
rs876661117
|
|
NM_001005361.3(DNM2):c.2577C>T (p.Thr859=)
|
rs2146214089
|
|
NM_001005361.3(DNM2):c.2581A>T (p.Ile861Phe)
|
|
|
NM_001005361.3(DNM2):c.2583C>A (p.Ile861=)
|
rs1303085497
|
|
NM_001005361.3(DNM2):c.2585G>C (p.Arg862Pro)
|
|
|
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=)
|
rs1555717448
|
|
NM_001005361.3(DNM2):c.2592C>A (p.Ala864=)
|
rs373161548
|
|
NM_001005361.3(DNM2):c.2593G>C (p.Glu865Gln)
|
rs746818628
|
|
NM_001005361.3(DNM2):c.2593_2597del (p.Glu865fs)
|
|
|
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
|
rs1242764198
|
|
NM_001005361.3(DNM2):c.2600C>A (p.Ser867Tyr)
|
|
|
NM_001005361.3(DNM2):c.2602C>T (p.Leu868=)
|
|
|
NM_001005361.3(DNM2):c.2603T>C (p.Leu868Pro)
|
|
|
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
|
rs1703984974
|
|
NM_001005361.3(DNM2):c.2607C>A (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.2607C>G (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.270G>A (p.Lys90=)
|
|
|
NM_001005361.3(DNM2):c.282T>C (p.Phe94=)
|
|
|
NM_001005361.3(DNM2):c.294G>A (p.Arg98=)
|
rs2145911472
|
|
NM_001005361.3(DNM2):c.296A>G (p.Gln99Arg)
|
|
|
NM_001005361.3(DNM2):c.297G>A (p.Gln99=)
|
rs896254945
|
|
NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)
|
|
|
NM_001005361.3(DNM2):c.31C>T (p.Pro11Ser)
|
rs1014814501
|
|
NM_001005361.3(DNM2):c.322G>C (p.Val108Leu)
|
|
|
NM_001005361.3(DNM2):c.323T>G (p.Val108Gly)
|
|
|
NM_001005361.3(DNM2):c.331A>G (p.Thr111Ala)
|
rs2145911597
|
|
NM_001005361.3(DNM2):c.331A>T (p.Thr111Ser)
|
rs2145911597
|
|
NM_001005361.3(DNM2):c.33G>T (p.Pro11=)
|
|
|
NM_001005361.3(DNM2):c.345C>G (p.Ile115Met)
|
rs753176358
|
|
NM_001005361.3(DNM2):c.354G>A (p.Val118=)
|
|
|
NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)
|
|
|
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
|
rs2071018084
|
|
NM_001005361.3(DNM2):c.37G>A (p.Val13Ile)
|
|
|
NM_001005361.3(DNM2):c.385+12G>A
|
|
|
NM_001005361.3(DNM2):c.385+6C>T
|
rs746068458
|
|
NM_001005361.3(DNM2):c.385G>A (p.Val129Met)
|
|
|
NM_001005361.3(DNM2):c.386-6T>C
|
rs114623441
|
|
NM_001005361.3(DNM2):c.394T>C (p.Leu132=)
|
rs2145924405
|
|
NM_001005361.3(DNM2):c.3G>T (p.Met1Ile)
|
|
|
NM_001005361.3(DNM2):c.417T>A (p.Gly139=)
|
|
|
NM_001005361.3(DNM2):c.41A>G (p.Asn14Ser)
|
rs2145637630
|
|
NM_001005361.3(DNM2):c.427G>C (p.Val143Leu)
|
rs1366173686
|
|
NM_001005361.3(DNM2):c.429G>A (p.Val143=)
|
rs769461123
|
|
NM_001005361.3(DNM2):c.429G>T (p.Val143=)
|
|
|
NM_001005361.3(DNM2):c.433G>A (p.Val145Met)
|
|
|
NM_001005361.3(DNM2):c.438C>T (p.Gly146=)
|
|
|
NM_001005361.3(DNM2):c.439G>C (p.Asp147His)
|
rs370086632
|
|
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
|
rs2071133001
|
|
NM_001005361.3(DNM2):c.451G>A (p.Asp151Asn)
|
rs2145924541
|
|
NM_001005361.3(DNM2):c.454A>G (p.Ile152Val)
|
|
|
NM_001005361.3(DNM2):c.45A>G (p.Lys15=)
|
rs2145637652
|
|
NM_001005361.3(DNM2):c.46C>T (p.Leu16=)
|
rs2145637657
|
|
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn)
|
rs757708760
|
|
NM_001005361.3(DNM2):c.481C>A (p.Leu161Met)
|
rs1060503547
|
|
NM_001005361.3(DNM2):c.486G>A (p.Gln162=)
|
|
|
NM_001005361.3(DNM2):c.48G>A (p.Leu16=)
|
rs746688611
|
|
NM_001005361.3(DNM2):c.494G>A (p.Ser165Asn)
|
rs1599529964
|
|
NM_001005361.3(DNM2):c.499G>A (p.Glu167Lys)
|
|
|
NM_001005361.3(DNM2):c.501G>A (p.Glu167=)
|
rs751712223
|
|
NM_001005361.3(DNM2):c.507C>T (p.Ser169=)
|
|
|
NM_001005361.3(DNM2):c.514C>T (p.Leu172=)
|
rs1599530007
|
|
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
|
rs777564981
|
|
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
|
rs2068819294
|
|
NM_001005361.3(DNM2):c.556G>T (p.Ala186Ser)
|
|
|
NM_001005361.3(DNM2):c.561C>T (p.Leu187=)
|
rs1599530095
|
|
NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)
|
|
|
NM_001005361.3(DNM2):c.570C>A (p.Ala190=)
|
|
|
NM_001005361.3(DNM2):c.573G>A (p.Lys191=)
|
|
|
NM_001005361.3(DNM2):c.577G>A (p.Val193Ile)
|
rs2145924827
|
|
NM_001005361.3(DNM2):c.579C>G (p.Val193=)
|
|
|
NM_001005361.3(DNM2):c.57C>T (p.Ala19=)
|
rs1599402522
|
|
NM_001005361.3(DNM2):c.589+10A>G
|
rs2145924891
|
|
NM_001005361.3(DNM2):c.589+13C>T
|
rs2145924904
|
|
NM_001005361.3(DNM2):c.589+17G>A
|
|
|
NM_001005361.3(DNM2):c.589+19C>A
|
|
|
NM_001005361.3(DNM2):c.589+5C>A
|
rs1290724089
|
|
NM_001005361.3(DNM2):c.590-14C>T
|
|
|
NM_001005361.3(DNM2):c.590G>A (p.Gly197Asp)
|
|
|
NM_001005361.3(DNM2):c.594A>G (p.Leu198=)
|
rs773813749
|
|
NM_001005361.3(DNM2):c.596G>A (p.Arg199Gln)
|
rs1568294706
|
|
NM_001005361.3(DNM2):c.603C>A (p.Ile201=)
|
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
NM_001005361.3(DNM2):c.639C>T (p.Gly213=)
|
|
|
NM_001005361.3(DNM2):c.642C>G (p.Thr214=)
|
rs752944817
|
|
NM_001005361.3(DNM2):c.642C>T (p.Thr214=)
|
rs752944817
|
|
NM_001005361.3(DNM2):c.645C>A (p.Asp215Glu)
|
rs148900299
|
|
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
|
rs2071182880
|
|
NM_001005361.3(DNM2):c.648C>T (p.Ala216=)
|
rs1060504950
|
|
NM_001005361.3(DNM2):c.655G>A (p.Val219Ile)
|
rs111845811
|
|
NM_001005361.3(DNM2):c.658T>G (p.Leu220Val)
|
|
|
NM_001005361.3(DNM2):c.65C>G (p.Ser22Cys)
|
rs2145637734
|
|
NM_001005361.3(DNM2):c.661G>A (p.Glu221Lys)
|
|
|
NM_001005361.3(DNM2):c.66C>T (p.Ser22=)
|
|
|
NM_001005361.3(DNM2):c.670T>A (p.Leu224Met)
|
rs2145929613
|
|
NM_001005361.3(DNM2):c.688+11G>A
|
|
|
NM_001005361.3(DNM2):c.688+12G>A
|
|
|
NM_001005361.3(DNM2):c.688+12G>T
|
rs557057188
|
|
NM_001005361.3(DNM2):c.688+14G>T
|
|
|
NM_001005361.3(DNM2):c.688G>A (p.Gly230Ser)
|
rs1245632083
|
|
NM_001005361.3(DNM2):c.689-12C>T
|
|
|
NM_001005361.3(DNM2):c.689-19T>C
|
|
|
NM_001005361.3(DNM2):c.695T>A (p.Ile232Asn)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.695T>G (p.Ile232Ser)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.69C>A (p.Ile23=)
|
rs1213386129
|
|
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
|
rs377159042
|
|
NM_001005361.3(DNM2):c.700G>T (p.Val234Leu)
|
|
|
NM_001005361.3(DNM2):c.717G>A (p.Gln239=)
|
|
|
NM_001005361.3(DNM2):c.726T>G (p.Ile242Met)
|
|
|
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
|
rs2068819928
|
|
NM_001005361.3(DNM2):c.732C>G (p.Gly244=)
|
|
|
NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu)
|
rs2071429703
|
|
NM_001005361.3(DNM2):c.739G>C (p.Asp247His)
|
|
|
NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)
|
|
|
NM_001005361.3(DNM2):c.744C>A (p.Ile248=)
|
rs572493411
|
|
NM_001005361.3(DNM2):c.744C>G (p.Ile248Met)
|
|
|
NM_001005361.3(DNM2):c.744C>T (p.Ile248=)
|
|
|
NM_001005361.3(DNM2):c.746G>A (p.Arg249His)
|
|
|
NM_001005361.3(DNM2):c.756G>A (p.Leu252=)
|
rs1422139221
|
|
NM_001005361.3(DNM2):c.758C>T (p.Ala253Val)
|
rs752195631
|
|
NM_001005361.3(DNM2):c.767G>T (p.Arg256Met)
|
|
|
NM_001005361.3(DNM2):c.770A>G (p.Lys257Arg)
|
rs1568298074
|
|
NM_001005361.3(DNM2):c.771G>A (p.Lys257=)
|
rs2145960350
|
|
NM_001005361.3(DNM2):c.776T>C (p.Phe259Ser)
|
|
|
NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile)
|
|
|
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val)
|
rs145607989
|
|
NM_001005361.3(DNM2):c.77G>C (p.Ser26Thr)
|
|
|
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
|
rs2071430985
|
|
NM_001005361.3(DNM2):c.784C>T (p.His262Tyr)
|
|
|
NM_001005361.3(DNM2):c.787C>T (p.Pro263Ser)
|
|
|
NM_001005361.3(DNM2):c.788C>G (p.Pro263Arg)
|
|
|
NM_001005361.3(DNM2):c.789G>C (p.Pro263=)
|
|
|
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
|
rs552366130
|
|
NM_001005361.3(DNM2):c.79T>G (p.Cys27Gly)
|
rs2068820028
|
|
NM_001005361.3(DNM2):c.802A>G (p.Met268Val)
|
|
|
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
|
rs868210157
|
|
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
|
rs781546006
|
|
NM_001005361.3(DNM2):c.837G>A (p.Lys279=)
|
rs2145960645
|
|
NM_001005361.3(DNM2):c.838A>G (p.Thr280Ala)
|
rs2071433079
|
|
NM_001005361.3(DNM2):c.848A>G (p.Gln283Arg)
|
|
|
NM_001005361.3(DNM2):c.849+19C>T
|
rs558595804
|
|
NM_001005361.3(DNM2):c.849+7C>T
|
rs2071433383
|
|
NM_001005361.3(DNM2):c.849+8A>C
|
rs2145960743
|
|
NM_001005361.3(DNM2):c.849+9A>G
|
|
|
NM_001005361.3(DNM2):c.850-13CT[2]
|
rs1404422473
|
|
NM_001005361.3(DNM2):c.850-3C>T
|
|
|
NM_001005361.3(DNM2):c.850-7C>G
|
rs778548382
|
|
NM_001005361.3(DNM2):c.852A>G (p.Gln284=)
|
|
|
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
|
rs747798217
|
|
NM_001005361.3(DNM2):c.860A>G (p.Asn287Ser)
|
rs1224102421
|
|
NM_001005361.3(DNM2):c.868C>G (p.Arg290Gly)
|
rs587778235
|
|
NM_001005361.3(DNM2):c.876G>T (p.Ser292=)
|
rs749140605
|
|
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val)
|
|
|
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
|
rs763894364
|
|
NM_001005361.3(DNM2):c.891T>G (p.Arg297=)
|
|
|
NM_001005361.3(DNM2):c.892A>G (p.Ser298Gly)
|
|
|
NM_001005361.3(DNM2):c.896A>G (p.Lys299Arg)
|
|
|
NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu)
|
rs759919549
|
|
NM_001005361.3(DNM2):c.91C>T (p.Leu31=)
|
|
|
NM_001005361.3(DNM2):c.930G>A (p.Glu310=)
|
rs1599552792
|
|
NM_001005361.3(DNM2):c.931G>A (p.Val311Met)
|
rs2145978014
|
|
NM_001005361.3(DNM2):c.936G>A (p.Glu312=)
|
rs949106319
|
|
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu)
|
rs1057518858
|
|
NM_001005361.3(DNM2):c.95C>T (p.Pro32Leu)
|
rs2145637847
|
|
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn)
|
rs745794161
|
|
NM_001005361.3(DNM2):c.96G>T (p.Pro32=)
|
|
|
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr)
|
rs2145978260
|
|
NM_001005361.3(DNM2):c.987G>C (p.Leu329=)
|
rs761023896
|
|
NM_001005361.3(DNM2):c.988C>T (p.Leu330=)
|
rs2145978278
|
|
NM_001005361.3(DNM2):c.990G>A (p.Leu330=)
|
rs1386181817
|
|
NM_001005361.3(DNM2):c.992+13G>A
|
|
|
NM_001005361.3(DNM2):c.992+13del
|
|
|
NM_001005361.3(DNM2):c.992+14C>T
|
|
|
NM_001005361.3(DNM2):c.992+17CCA[4]
|
|
|
NM_001005361.3(DNM2):c.992+17CCA[6]
|
|
|
NM_001005361.3(DNM2):c.992+19A>T
|
rs2145978561
|
|
NM_001005361.3(DNM2):c.992+20C>G
|
|
|
NM_001005361.3(DNM2):c.992+3A>G
|
rs1053695479
|
|
NM_001005361.3(DNM2):c.992+4T>C
|
rs1225723240
|
|
NM_001005361.3(DNM2):c.992+4T>G
|
rs1225723240
|
|
NM_001005361.3(DNM2):c.993-16T>A
|
|
|
NM_001005361.3(DNM2):c.993-16T>C
|
|
|
NM_001005361.3(DNM2):c.993-20C>T
|
rs1239150270
|
|
NM_001005361.3(DNM2):c.993-7C>G
|
rs2071833224
|
|
NM_001005361.3(DNM2):c.997G>A (p.Val333Ile)
|
|
|
NM_001005361.3(DNM2):c.99G>A (p.Gln33=)
|
|
|
NM_001005373.4(LRSAM1):c.1012C>T (p.Arg338Trp)
|
|
|
NM_001005373.4(LRSAM1):c.1019A>G (p.Gln340Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=)
|
rs1554757292
|
|
NM_001005373.4(LRSAM1):c.1035C>G (p.Asp345Glu)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs)
|
rs1588121150
|
|
NM_001005373.4(LRSAM1):c.1043+18G>C
|
|
|
NM_001005373.4(LRSAM1):c.1043+1G>A
|
rs373571535
|
|
NM_001005373.4(LRSAM1):c.1043+1G>T
|
|
|
NM_001005373.4(LRSAM1):c.1043+2T>G
|
rs746455518
|
|
NM_001005373.4(LRSAM1):c.1044-16A>G
|
|
|
NM_001005373.4(LRSAM1):c.1044-7T>A
|
|
|
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile)
|
rs915109407
|
|
NM_001005373.4(LRSAM1):c.1063A>G (p.Ile355Val)
|
|
|
NM_001005373.4(LRSAM1):c.106A>G (p.Ile36Val)
|
|
|
NM_001005373.4(LRSAM1):c.1071A>G (p.Lys357=)
|
rs1588122290
|
|
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His)
|
rs1835524755
|
|
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser)
|
rs1835524861
|
|
NM_001005373.4(LRSAM1):c.1083T>C (p.Asn361=)
|
rs1835524969
|
|
NM_001005373.4(LRSAM1):c.1088+19G>A
|
|
|
NM_001005373.4(LRSAM1):c.1088+2T>G
|
|
|
NM_001005373.4(LRSAM1):c.1088+9T>C
|
rs753087190
|
|
NM_001005373.4(LRSAM1):c.1089-11T>A
|
|
|
NM_001005373.4(LRSAM1):c.1089-1G>C
|
|
|
NM_001005373.4(LRSAM1):c.1091T>C (p.Ile364Thr)
|
rs1588123900
|
|
NM_001005373.4(LRSAM1):c.1092A>G (p.Ile364Met)
|
|
|
NM_001005373.4(LRSAM1):c.1093A>C (p.Arg365=)
|
rs2132073036
|
|
NM_001005373.4(LRSAM1):c.109del (p.Ser37fs)
|
rs1834464693
|
|
NM_001005373.4(LRSAM1):c.110C>G (p.Ser37Cys)
|
|
|
NM_001005373.4(LRSAM1):c.1119C>A (p.Thr373=)
|
rs1835594332
|
|
NM_001005373.4(LRSAM1):c.1135_1136del (p.Ser379fs)
|
rs2132073231
|
|
NM_001005373.4(LRSAM1):c.1159+16G>A
|
|
|
NM_001005373.4(LRSAM1):c.1159+3G>A
|
|
|
NM_001005373.4(LRSAM1):c.1159+5G>A
|
|
|
NM_001005373.4(LRSAM1):c.1165A>C (p.Met389Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1183G>A (p.Glu395Lys)
|
rs2132080972
|
|
NM_001005373.4(LRSAM1):c.1203C>T (p.Leu401=)
|
rs774735924
|
|
NM_001005373.4(LRSAM1):c.1217A>G (p.Tyr406Cys)
|
|
|
NM_001005373.4(LRSAM1):c.1218C>T (p.Tyr406=)
|
|
|
NM_001005373.4(LRSAM1):c.1236C>A (p.Asn412Lys)
|
rs186139632
|
|
NM_001005373.4(LRSAM1):c.1251C>A (p.Ala417=)
|
|
|
NM_001005373.4(LRSAM1):c.1259+12A>G
|
|
|
NM_001005373.4(LRSAM1):c.1259+16G>T
|
|
|
NM_001005373.4(LRSAM1):c.1259+19G>A
|
|
|
NM_001005373.4(LRSAM1):c.1260-13_1260-12del
|
|
|
NM_001005373.4(LRSAM1):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001005373.4(LRSAM1):c.1264G>T (p.Ala422Ser)
|
rs372452916
|
|
NM_001005373.4(LRSAM1):c.126A>G (p.Ser42=)
|
rs1404495701
|
|
NM_001005373.4(LRSAM1):c.1270A>G (p.Met424Val)
|
rs750243357
|
|
NM_001005373.4(LRSAM1):c.1274A>G (p.Asp425Gly)
|
|
|
NM_001005373.4(LRSAM1):c.1281A>G (p.Arg427=)
|
|
|
NM_001005373.4(LRSAM1):c.129+16T>C
|
|
|
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1299G>A (p.Ser433=)
|
|
|
NM_001005373.4(LRSAM1):c.130-19C>T
|
|
|
NM_001005373.4(LRSAM1):c.1311G>A (p.Met437Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1324G>A (p.Ala442Thr)
|
|
|
NM_001005373.4(LRSAM1):c.132T>G (p.Ile44Met)
|
|
|
NM_001005373.4(LRSAM1):c.1332C>A (p.Ser444Arg)
|
rs1299926632
|
|
NM_001005373.4(LRSAM1):c.1333del (p.Gln445fs)
|
rs866892723
|
|
NM_001005373.4(LRSAM1):c.1347+10C>T
|
|
|
NM_001005373.4(LRSAM1):c.1347+6C>T
|
rs1588128875
|
|
NM_001005373.4(LRSAM1):c.1347+8_1347+20del
|
|
|
NM_001005373.4(LRSAM1):c.1349G>A (p.Ser450Asn)
|
|
|
NM_001005373.4(LRSAM1):c.134C>T (p.Pro45Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1350C>T (p.Ser450=)
|
rs369401880
|
|
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)
|
rs202166023
|
|
NM_001005373.4(LRSAM1):c.1367C>T (p.Ala456Val)
|
rs1299851938
|
|
NM_001005373.4(LRSAM1):c.1371C>T (p.Phe457=)
|
|
|
NM_001005373.4(LRSAM1):c.1377A>G (p.Ala459=)
|
|
|
NM_001005373.4(LRSAM1):c.1382A>G (p.Gln461Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1398G>A (p.Leu466=)
|
|
|
NM_001005373.4(LRSAM1):c.13T>C (p.Phe5Leu)
|
rs201473713
|
|
NM_001005373.4(LRSAM1):c.1401G>C (p.Met467Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1416G>C (p.Arg472Ser)
|
rs2132092071
|
|
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg)
|
rs1345645228
|
|
NM_001005373.4(LRSAM1):c.1422+14C>T
|
|
|
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser)
|
rs1835920830
|
|
NM_001005373.4(LRSAM1):c.1440T>C (p.Thr480=)
|
|
|
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=)
|
rs756804646
|
|
NM_001005373.4(LRSAM1):c.146T>C (p.Phe49Ser)
|
rs942509436
|
|
NM_001005373.4(LRSAM1):c.147T>G (p.Phe49Leu)
|
|
|
NM_001005373.4(LRSAM1):c.148G>C (p.Ala50Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs)
|
rs1588132672
|
|
NM_001005373.4(LRSAM1):c.1495T>C (p.Ser499Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1503+13C>T
|
|
|
NM_001005373.4(LRSAM1):c.1503+14C>T
|
|
|
NM_001005373.4(LRSAM1):c.1503+4T>C
|
|
|
NM_001005373.4(LRSAM1):c.1503+6T>C
|
rs2132098269
|
|
NM_001005373.4(LRSAM1):c.1504-14G>A
|
|
|
NM_001005373.4(LRSAM1):c.1504-16G>T
|
|
|
NM_001005373.4(LRSAM1):c.1504-2A>G
|
rs1064797013
|
|
NM_001005373.4(LRSAM1):c.1504-5C>T
|
|
|
NM_001005373.4(LRSAM1):c.1504-8G>C
|
rs1295097741
|
|
NM_001005373.4(LRSAM1):c.1510A>T (p.Ile504Phe)
|
rs1472578658
|
|
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=)
|
rs199703262
|
|
NM_001005373.4(LRSAM1):c.1537T>C (p.Ser513Pro)
|
rs748161826
|
|
NM_001005373.4(LRSAM1):c.153A>C (p.Thr51=)
|
rs2131991694
|
|
NM_001005373.4(LRSAM1):c.153A>G (p.Thr51=)
|
|
|
NM_001005373.4(LRSAM1):c.1546C>T (p.Gln516Ter)
|
|
|
NM_001005373.4(LRSAM1):c.1557C>T (p.Leu519=)
|
rs1352690878
|
|
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=)
|
rs1442123730
|
|
NM_001005373.4(LRSAM1):c.158A>G (p.Lys53Arg)
|
rs754095363
|
|
NM_001005373.4(LRSAM1):c.1598T>G (p.Leu533Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1599+17T>C
|
rs368471851
|
|
NM_001005373.4(LRSAM1):c.1599+19T>C
|
|
|
NM_001005373.4(LRSAM1):c.1599+20G>A
|
rs2132103431
|
|
NM_001005373.4(LRSAM1):c.1599+9_1599+10del
|
rs1588134360
|
|
NM_001005373.4(LRSAM1):c.1602G>A (p.Thr534=)
|
rs766032321
|
|
NM_001005373.4(LRSAM1):c.1605_1607dup (p.Leu536_Glu537insLeu)
|
|
|
NM_001005373.4(LRSAM1):c.1606_1609dup (p.Glu537fs)
|
|
|
NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1619G>A (p.Ser540Asn)
|
|
|
NM_001005373.4(LRSAM1):c.1642T>A (p.Trp548Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1659A>T (p.Gln553His)
|
|
|
NM_001005373.4(LRSAM1):c.1665T>G (p.Leu555=)
|
|
|
NM_001005373.4(LRSAM1):c.1666T>A (p.Leu556Met)
|
|
|
NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1680C>T (p.Pro560=)
|
|
|
NM_001005373.4(LRSAM1):c.1698+14G>A
|
|
|
NM_001005373.4(LRSAM1):c.1698+6G>A
|
|
|
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=)
|
rs1256215388
|
|
NM_001005373.4(LRSAM1):c.1699-10T>C
|
|
|
NM_001005373.4(LRSAM1):c.1701A>G (p.Glu567=)
|
rs2132112222
|
|
NM_001005373.4(LRSAM1):c.1714C>G (p.Arg572Gly)
|
|
|
NM_001005373.4(LRSAM1):c.1715G>A (p.Arg572His)
|
rs1451403749
|
|
NM_001005373.4(LRSAM1):c.1717C>T (p.Gln573Ter)
|
|
|
NM_001005373.4(LRSAM1):c.1730T>C (p.Leu577Pro)
|
rs1836124813
|
|
NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg)
|
rs1235938569
|
|
NM_001005373.4(LRSAM1):c.174+33_174+34insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACTCCGCCCGGCTAATTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTCAGAGACTTTCTT
|
rs2131991830
|
|
NM_001005373.4(LRSAM1):c.1747G>A (p.Ala583Thr)
|
rs1202628332
|
|
NM_001005373.4(LRSAM1):c.175-12C>T
|
rs1167547039
|
|
NM_001005373.4(LRSAM1):c.175-2A>T
|
rs1035054313
|
|
NM_001005373.4(LRSAM1):c.175-6A>G
|
|
|
NM_001005373.4(LRSAM1):c.1751A>C (p.Glu584Ala)
|
|
|
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp)
|
rs1183629673
|
|
NM_001005373.4(LRSAM1):c.176T>C (p.Val59Ala)
|
rs1834556433
|
|
NM_001005373.4(LRSAM1):c.1773_1774delinsAA (p.His592Asn)
|
rs1836128229
|
|
NM_001005373.4(LRSAM1):c.1775A>G (p.His592Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1775A>T (p.His592Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1778A>G (p.His593Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1782C>T (p.Arg594=)
|
rs753979299
|
|
NM_001005373.4(LRSAM1):c.1789C>T (p.Leu597=)
|
rs1588137639
|
|
NM_001005373.4(LRSAM1):c.1806A>T (p.Gln602His)
|
rs1462342285
|
|
NM_001005373.4(LRSAM1):c.1817G>A (p.Gly606Glu)
|
|
|
NM_001005373.4(LRSAM1):c.1819G>T (p.Asp607Tyr)
|
rs1480003668
|
|
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr)
|
rs1834556629
|
|
NM_001005373.4(LRSAM1):c.1830+8G>A
|
|
|
NM_001005373.4(LRSAM1):c.1831-13T>C
|
rs2132116158
|
|
NM_001005373.4(LRSAM1):c.1831-15C>T
|
|
|
NM_001005373.4(LRSAM1):c.1831-19C>T
|
|
|
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met)
|
rs771783337
|
|
NM_001005373.4(LRSAM1):c.1840T>C (p.Ser614Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val)
|
rs1836186573
|
|
NM_001005373.4(LRSAM1):c.1867C>T (p.Leu623Phe)
|
|
|
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp)
|
rs375938990
|
|
NM_001005373.4(LRSAM1):c.1878C>T (p.Val626=)
|
rs2132116337
|
|
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg)
|
rs1836188217
|
|
NM_001005373.4(LRSAM1):c.1892A>G (p.Asp631Gly)
|
rs1564283787
|
|
NM_001005373.4(LRSAM1):c.1911del (p.Glu638fs)
|
|
|
NM_001005373.4(LRSAM1):c.1912+4_1912+5delinsTC
|
rs1836189857
|
|
NM_001005373.4(LRSAM1):c.1913-12T>C
|
|
|
NM_001005373.4(LRSAM1):c.1913-20T>G
|
rs2132127818
|
|
NM_001005373.4(LRSAM1):c.1913-4del
|
|
|
NM_001005373.4(LRSAM1):c.1913-5dup
|
|
|
NM_001005373.4(LRSAM1):c.1918A>G (p.Lys640Glu)
|
|
|
NM_001005373.4(LRSAM1):c.191C>T (p.Thr64Met)
|
|
|
NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del)
|
|
|
NM_001005373.4(LRSAM1):c.1922C>T (p.Pro641Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1927A>G (p.Met643Val)
|
|
|
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser)
|
rs201284198
|
|
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys)
|
rs201284198
|
|
NM_001005373.4(LRSAM1):c.1936G>A (p.Val646Ile)
|
rs748358043
|
|
NM_001005373.4(LRSAM1):c.1938C>T (p.Val646=)
|
|
|
NM_001005373.4(LRSAM1):c.1941C>G (p.Val647=)
|
rs1000632610
|
|
NM_001005373.4(LRSAM1):c.1941C>T (p.Val647=)
|
rs1000632610
|
|
NM_001005373.4(LRSAM1):c.1943C>T (p.Thr648Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1953C>A (p.Ala651=)
|
|
|
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs)
|
rs775965001
|
|
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs)
|
rs775965001
|
|
NM_001005373.4(LRSAM1):c.1962G>A (p.Glu654=)
|
|
|
NM_001005373.4(LRSAM1):c.1963C>T (p.Pro655Ser)
|
rs1291622809
|
|
NM_001005373.4(LRSAM1):c.1964C>T (p.Pro655Leu)
|
rs376913816
|
|
NM_001005373.4(LRSAM1):c.1978_1979dup (p.Pro661fs)
|
rs1836370529
|
|
NM_001005373.4(LRSAM1):c.1985C>T (p.Ser662Phe)
|
|
|
NM_001005373.4(LRSAM1):c.1987G>A (p.Ala663Thr)
|
|
|
NM_001005373.4(LRSAM1):c.198C>T (p.His66=)
|
|
|
NM_001005373.4(LRSAM1):c.1990C>A (p.Pro664Thr)
|
rs148846371
|
|
NM_001005373.4(LRSAM1):c.1990C>T (p.Pro664Ser)
|
|
|
NM_001005373.4(LRSAM1):c.1995T>C (p.Pro665=)
|
rs974205215
|
|
NM_001005373.4(LRSAM1):c.1996_2017del (p.Ala666fs)
|
|
|
NM_001005373.4(LRSAM1):c.1A>T (p.Met1Leu)
|
rs1399738186
|
|
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs)
|
rs876661208
|
|
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter)
|
rs1588143112
|
|
NM_001005373.4(LRSAM1):c.2008G>A (p.Val670Met)
|
|
|
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs)
|
rs1836372698
|
|
NM_001005373.4(LRSAM1):c.2010G>A (p.Val670=)
|
|
|
NM_001005373.4(LRSAM1):c.2023T>A (p.Cys675Ser)
|
|
|
NM_001005373.4(LRSAM1):c.2026G>T (p.Val676Phe)
|
|
|
NM_001005373.4(LRSAM1):c.2026_2027del (p.Val676fs)
|
rs2132128455
|
|
NM_001005373.4(LRSAM1):c.2028C>A (p.Val676=)
|
rs566890772
|
|
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=)
|
rs566890772
|
|
NM_001005373.4(LRSAM1):c.2029G>A (p.Val677Met)
|
|
|
NM_001005373.4(LRSAM1):c.2029_2046+7del
|
rs1836374325
|
|
NM_001005373.4(LRSAM1):c.2032T>C (p.Cys678Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
|
|
|
NM_001005373.4(LRSAM1):c.2033G>C (p.Cys678Ser)
|
rs2132128518
|
|
NM_001005373.4(LRSAM1):c.2033_2038del (p.Cys678_Glu680delinsTer)
|
|
|
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro)
|
rs1564286814
|
|
NM_001005373.4(LRSAM1):c.2037G>A (p.Leu679=)
|
|
|
NM_001005373.4(LRSAM1):c.2042G>C (p.Arg681Pro)
|
rs143479340
|
|
NM_001005373.4(LRSAM1):c.2043_2044dup (p.Glu682fs)
|
rs1554762671
|
|
NM_001005373.4(LRSAM1):c.2046+10G>A
|
rs2132128662
|
|
NM_001005373.4(LRSAM1):c.2046+1G>A
|
|
|
NM_001005373.4(LRSAM1):c.2046+3_2046+6dup
|
rs1294543474
|
|
NM_001005373.4(LRSAM1):c.2046+9G>A
|
|
|
NM_001005373.4(LRSAM1):c.2046_2046+12del
|
rs2132128595
|
|
NM_001005373.4(LRSAM1):c.2047-16C>T
|
|
|
NM_001005373.4(LRSAM1):c.2047-1G>A
|
rs1564287793
|
|
NM_001005373.4(LRSAM1):c.2047-4C>T
|
|
|
NM_001005373.4(LRSAM1):c.2056A>G (p.Ile686Val)
|
rs1836444367
|
|
NM_001005373.4(LRSAM1):c.2058C>T (p.Ile686=)
|
|
|
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser)
|
rs1836444481
|
|
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg)
|
rs879253755
|
|
NM_001005373.4(LRSAM1):c.2069G>A (p.Cys690Tyr)
|
rs2132133792
|
|
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp)
|
rs1836445139
|
|
NM_001005373.4(LRSAM1):c.2074C>T (p.His692Tyr)
|
rs1836445139
|
|
NM_001005373.4(LRSAM1):c.2075_2087del (p.His692fs)
|
|
|
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln)
|
rs753650841
|
|
NM_001005373.4(LRSAM1):c.2076C>T (p.His692=)
|
|
|
NM_001005373.4(LRSAM1):c.2077G>A (p.Val693Ile)
|
|
|
NM_001005373.4(LRSAM1):c.2077G>C (p.Val693Leu)
|
|
|
NM_001005373.4(LRSAM1):c.207C>T (p.Ser69=)
|
rs1273717712
|
|
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg)
|
rs759312530
|
|
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser)
|
rs2132133880
|
|
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr)
|
rs1588144651
|
|
NM_001005373.4(LRSAM1):c.2087G>T (p.Cys696Phe)
|
|
|
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter)
|
rs961918637
|
|
NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)
|
|
|
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del)
|
rs1554763017
|
|
NM_001005373.4(LRSAM1):c.2096G>T (p.Cys699Phe)
|
rs1275428830
|
|
NM_001005373.4(LRSAM1):c.2098T>C (p.Cys700Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs)
|
rs1554763035
|
|
NM_001005373.4(LRSAM1):c.2103G>A (p.Gln701=)
|
rs777789178
|
|
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro)
|
rs1588144691
|
|
NM_001005373.4(LRSAM1):c.2108_2114del (p.Leu703fs)
|
|
|
NM_001005373.4(LRSAM1):c.2110C>A (p.Arg704Ser)
|
rs150984897
|
|
NM_001005373.4(LRSAM1):c.2112C>T (p.Arg704=)
|
|
|
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
|
rs1410005477
|
|
NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser)
|
rs1588144707
|
|
NM_001005373.4(LRSAM1):c.2120C>G (p.Pro707Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001005373.4(LRSAM1):c.2121G>T (p.Pro707=)
|
rs570732998
|
|
NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)
|
|
|
NM_001005373.4(LRSAM1):c.2161_2163del (p.His721del)
|
rs1196955593
|
|
NM_001005373.4(LRSAM1):c.234G>A (p.Leu78=)
|
rs566623718
|
|
NM_001005373.4(LRSAM1):c.246C>T (p.Thr82=)
|
rs1168027198
|
|
NM_001005373.4(LRSAM1):c.247A>G (p.Ile83Val)
|
|
|
NM_001005373.4(LRSAM1):c.252+10C>T
|
rs765686374
|
|
NM_001005373.4(LRSAM1):c.252+1G>A
|
rs1554753670
|
|
NM_001005373.4(LRSAM1):c.252+9C>T
|
rs1834560472
|
|
NM_001005373.4(LRSAM1):c.253-15del
|
|
|
NM_001005373.4(LRSAM1):c.253-17G>T
|
|
|
NM_001005373.4(LRSAM1):c.253-9C>T
|
rs199925705
|
|
NM_001005373.4(LRSAM1):c.253G>A (p.Val85Ile)
|
rs765537196
|
|
NM_001005373.4(LRSAM1):c.253G>T (p.Val85Phe)
|
|
|
NM_001005373.4(LRSAM1):c.258A>G (p.Leu86=)
|
rs1259389825
|
|
NM_001005373.4(LRSAM1):c.262C>A (p.Leu88Ile)
|
rs757094037
|
|
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg)
|
rs769569457
|
|
NM_001005373.4(LRSAM1):c.301G>A (p.Gly101Arg)
|
rs558871054
|
|
NM_001005373.4(LRSAM1):c.321+14A>G
|
rs2132003521
|
|
NM_001005373.4(LRSAM1):c.322-17C>T
|
|
|
NM_001005373.4(LRSAM1):c.322-2_322-1insACGTGGAAA
|
|
|
NM_001005373.4(LRSAM1):c.322-9C>T
|
|
|
NM_001005373.4(LRSAM1):c.341A>G (p.Asn114Ser)
|
rs2132010693
|
|
NM_001005373.4(LRSAM1):c.352C>T (p.Gln118Ter)
|
rs2132010730
|
|
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val)
|
rs1224073398
|
|
NM_001005373.4(LRSAM1):c.361C>T (p.Arg121Cys)
|
|
|
NM_001005373.4(LRSAM1):c.368T>A (p.Ile123Asn)
|
|
|
NM_001005373.4(LRSAM1):c.370G>A (p.Gly124Arg)
|
|
|
NM_001005373.4(LRSAM1):c.375C>A (p.Asn125Lys)
|
rs779873656
|
|
NM_001005373.4(LRSAM1):c.375C>T (p.Asn125=)
|
|
|
NM_001005373.4(LRSAM1):c.382C>A (p.Gln128Lys)
|
rs1168470052
|
|
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter)
|
rs1168470052
|
|
NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter)
|
rs1554754342
|
|
NM_001005373.4(LRSAM1):c.39G>A (p.Glu13=)
|
|
|
NM_001005373.4(LRSAM1):c.405A>G (p.Lys135=)
|
rs1834732440
|
|
NM_001005373.4(LRSAM1):c.406+13A>G
|
|
|
NM_001005373.4(LRSAM1):c.406+15G>A
|
|
|
NM_001005373.4(LRSAM1):c.406+17C>T
|
|
|
NM_001005373.4(LRSAM1):c.406+18G>A
|
|
|
NM_001005373.4(LRSAM1):c.406+20G>A
|
|
|
NM_001005373.4(LRSAM1):c.406+5G>A
|
rs1834732559
|
|
NM_001005373.4(LRSAM1):c.406+7A>T
|
rs1163117546
|
|
NM_001005373.4(LRSAM1):c.407-15T>G
|
|
|
NM_001005373.4(LRSAM1):c.407-8C>T
|
|
|
NM_001005373.4(LRSAM1):c.428_435dup (p.Val146fs)
|
|
|
NM_001005373.4(LRSAM1):c.431A>C (p.Asp144Ala)
|
|
|
NM_001005373.4(LRSAM1):c.436G>C (p.Val146Leu)
|
rs555377969
|
|
NM_001005373.4(LRSAM1):c.438G>C (p.Val146=)
|
|
|
NM_001005373.4(LRSAM1):c.438G>T (p.Val146=)
|
|
|
NM_001005373.4(LRSAM1):c.441G>A (p.Gly147=)
|
|
|
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
|
|
|
NM_001005373.4(LRSAM1):c.44G>T (p.Arg15Leu)
|
|
|
NM_001005373.4(LRSAM1):c.454C>T (p.Leu152=)
|
rs140143823
|
|
NM_001005373.4(LRSAM1):c.471C>T (p.Ile157=)
|
rs1588100876
|
|
NM_001005373.4(LRSAM1):c.484A>T (p.Ile162Phe)
|
|
|
NM_001005373.4(LRSAM1):c.497C>G (p.Pro166Arg)
|
rs142085060
|
|
NM_001005373.4(LRSAM1):c.506T>A (p.Leu169Gln)
|
rs2132014587
|
|
NM_001005373.4(LRSAM1):c.518G>A (p.Arg173Gln)
|
|
|
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile)
|
rs2132014659
|
|
NM_001005373.4(LRSAM1):c.528+12G>A
|
|
|
NM_001005373.4(LRSAM1):c.528+15G>A
|
|
|
NM_001005373.4(LRSAM1):c.528+15G>C
|
rs758039190
|
|
NM_001005373.4(LRSAM1):c.528+6T>C
|
|
|
NM_001005373.4(LRSAM1):c.528+8G>A
|
|
|
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=)
|
rs1564255509
|
|
NM_001005373.4(LRSAM1):c.533T>C (p.Leu178Pro)
|
|
|
NM_001005373.4(LRSAM1):c.544G>T (p.Ala182Ser)
|
rs780636250
|
|
NM_001005373.4(LRSAM1):c.549G>A (p.Ser183=)
|
rs1459773762
|
|
NM_001005373.4(LRSAM1):c.553A>G (p.Met185Val)
|
|
|
NM_001005373.4(LRSAM1):c.564G>C (p.Pro188=)
|
|
|
NM_001005373.4(LRSAM1):c.564G>T (p.Pro188=)
|
rs774399646
|
|
NM_001005373.4(LRSAM1):c.565C>A (p.Pro189Thr)
|
|
|
NM_001005373.4(LRSAM1):c.572A>T (p.Glu191Val)
|
|
|
NM_001005373.4(LRSAM1):c.578G>A (p.Cys193Tyr)
|
|
|
NM_001005373.4(LRSAM1):c.580G>A (p.Gly194Ser)
|
rs1193320677
|
|
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu)
|
rs758867006
|
|
NM_001005373.4(LRSAM1):c.593C>T (p.Ala198Val)
|
rs758867006
|
|
NM_001005373.4(LRSAM1):c.595G>A (p.Ala199Thr)
|
rs745326217
|
|
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs)
|
rs1215220865
|
|
NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)
|
|
|
NM_001005373.4(LRSAM1):c.619+14G>T
|
rs770398029
|
|
NM_001005373.4(LRSAM1):c.619+15C>T
|
|
|
NM_001005373.4(LRSAM1):c.620-11G>A
|
rs369968003
|
|
NM_001005373.4(LRSAM1):c.620-11G>C
|
|
|
NM_001005373.4(LRSAM1):c.620-7_620-6del
|
rs1468536961
|
|
NM_001005373.4(LRSAM1):c.620-8T>C
|
rs2132047746
|
|
NM_001005373.4(LRSAM1):c.620-9C>A
|
rs1588114537
|
|
NM_001005373.4(LRSAM1):c.625G>A (p.Gly209Arg)
|
|
|
NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter)
|
rs1345228128
|
|
NM_001005373.4(LRSAM1):c.640C>T (p.Pro214Ser)
|
|
|
NM_001005373.4(LRSAM1):c.642C>G (p.Pro214=)
|
|
|
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr)
|
rs765389102
|
|
NM_001005373.4(LRSAM1):c.643C>G (p.Pro215Ala)
|
rs765389102
|
|
NM_001005373.4(LRSAM1):c.645T>A (p.Pro215=)
|
rs1588114575
|
|
NM_001005373.4(LRSAM1):c.676G>A (p.Asp226Asn)
|
rs1419447675
|
|
NM_001005373.4(LRSAM1):c.684C>G (p.Ile228Met)
|
rs376671005
|
|
NM_001005373.4(LRSAM1):c.689A>T (p.Asn230Ile)
|
rs2132047940
|
|
NM_001005373.4(LRSAM1):c.695G>T (p.Arg232Leu)
|
|
|
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn)
|
rs551957380
|
|
NM_001005373.4(LRSAM1):c.707A>G (p.Asp236Gly)
|
|
|
NM_001005373.4(LRSAM1):c.716C>G (p.Thr239Arg)
|
|
|
NM_001005373.4(LRSAM1):c.716C>T (p.Thr239Met)
|
rs565827207
|
|
NM_001005373.4(LRSAM1):c.72+10del
|
rs1554753226
|
|
NM_001005373.4(LRSAM1):c.73-14C>A
|
|
|
NM_001005373.4(LRSAM1):c.73-14C>G
|
|
|
NM_001005373.4(LRSAM1):c.73-2A>T
|
|
|
NM_001005373.4(LRSAM1):c.73-8A>T
|
|
|
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp)
|
rs2132048170
|
|
NM_001005373.4(LRSAM1):c.744G>A (p.Glu248=)
|
|
|
NM_001005373.4(LRSAM1):c.750+15C>T
|
|
|
NM_001005373.4(LRSAM1):c.751-18_751-15del
|
|
|
NM_001005373.4(LRSAM1):c.756G>T (p.Arg252Ser)
|
|
|
NM_001005373.4(LRSAM1):c.766T>C (p.Tyr256His)
|
rs2132060933
|
|
NM_001005373.4(LRSAM1):c.780+9dup
|
rs2132060965
|
|
NM_001005373.4(LRSAM1):c.781-11G>C
|
|
|
NM_001005373.4(LRSAM1):c.781-15A>T
|
|
|
NM_001005373.4(LRSAM1):c.781G>A (p.Glu261Lys)
|
rs2132062152
|
|
NM_001005373.4(LRSAM1):c.783A>G (p.Glu261=)
|
rs1344070586
|
|
NM_001005373.4(LRSAM1):c.792G>A (p.Met264Ile)
|
rs773572737
|
|
NM_001005373.4(LRSAM1):c.815G>A (p.Arg272Gln)
|
|
|
NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His)
|
rs368088593
|
|
NM_001005373.4(LRSAM1):c.818G>C (p.Arg273Pro)
|
|
|
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys)
|
rs767107676
|
|
NM_001005373.4(LRSAM1):c.831G>T (p.Gly277=)
|
|
|
NM_001005373.4(LRSAM1):c.836G>A (p.Arg279Gln)
|
|
|
NM_001005373.4(LRSAM1):c.842A>G (p.His281Arg)
|
|
|
NM_001005373.4(LRSAM1):c.843C>T (p.His281=)
|
rs779095402
|
|
NM_001005373.4(LRSAM1):c.846C>T (p.Thr282=)
|
|
|
NM_001005373.4(LRSAM1):c.847C>G (p.Gln283Glu)
|
|
|
NM_001005373.4(LRSAM1):c.849_1088+565del
|
|
|
NM_001005373.4(LRSAM1):c.850C>T (p.Leu284Phe)
|
rs1835452387
|
|
NM_001005373.4(LRSAM1):c.866G>A (p.Ser289Asn)
|
|
|
NM_001005373.4(LRSAM1):c.873G>A (p.Gln291=)
|
rs2132062633
|
|
NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu)
|
rs769070078
|
|
NM_001005373.4(LRSAM1):c.903+11C>T
|
|
|
NM_001005373.4(LRSAM1):c.903+13C>A
|
|
|
NM_001005373.4(LRSAM1):c.903+1G>T
|
rs1272943113
|
|
NM_001005373.4(LRSAM1):c.904-16C>T
|
|
|
NM_001005373.4(LRSAM1):c.904-17_949del
|
rs2132063794
|
|
NM_001005373.4(LRSAM1):c.904-18C>T
|
rs2132063814
|
|
NM_001005373.4(LRSAM1):c.904-20A>T
|
rs1588120687
|
|
NM_001005373.4(LRSAM1):c.904-2A>G
|
rs1171946884
|
|
NM_001005373.4(LRSAM1):c.904-3C>T
|
|
|
NM_001005373.4(LRSAM1):c.917T>C (p.Leu306Pro)
|
rs140151379
|
|
NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn)
|
rs1564248731
|
|
NM_001005373.4(LRSAM1):c.929T>G (p.Leu310Arg)
|
|
|
NM_001005373.4(LRSAM1):c.937C>T (p.His313Tyr)
|
rs1588120809
|
|
NM_001005373.4(LRSAM1):c.940C>T (p.Gln314Ter)
|
|
|
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
|
|
|
NM_001005373.4(LRSAM1):c.953A>G (p.Asn318Ser)
|
|
|
NM_001005373.4(LRSAM1):c.961C>T (p.Arg321Trp)
|
|
|
NM_001005373.4(LRSAM1):c.982C>G (p.Leu328Val)
|
rs2132064383
|
|
NM_001005373.4(LRSAM1):c.9C>T (p.Leu3=)
|
rs540942030
|
|
NM_001122955.4(BSCL2):c.1005+11_1005+16del
|
|
|
NM_001122955.4(BSCL2):c.1005+14A>G
|
|
|
NM_001122955.4(BSCL2):c.1005+15G>T
|
|
|
NM_001122955.4(BSCL2):c.1005+16G>A
|
|
|
NM_001122955.4(BSCL2):c.1005+19C>T
|
|
|
NM_001122955.4(BSCL2):c.1005+3C>T
|
rs372166360
|
|
NM_001122955.4(BSCL2):c.1005+4G>T
|
rs367731146
|
|
NM_001122955.4(BSCL2):c.1005+8G>T
|
rs864622631
|
|
NM_001122955.4(BSCL2):c.1006-1G>A
|
rs777430457
|
|
NM_001122955.4(BSCL2):c.1006-20C>T
|
|
|
NM_001122955.4(BSCL2):c.1006-2A>C
|
|
|
NM_001122955.4(BSCL2):c.1006-8C>T
|
rs1057521013
|
|
NM_001122955.4(BSCL2):c.1022G>C (p.Arg341Thr)
|
|
|
NM_001122955.4(BSCL2):c.1024G>C (p.Asp342His)
|
|
|
NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs)
|
|
|
NM_001122955.4(BSCL2):c.1025A>C (p.Asp342Ala)
|
|
|
NM_001122955.4(BSCL2):c.1026C>G (p.Asp342Glu)
|
rs1945297760
|
|
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser)
|
rs1440384464
|
|
NM_001122955.4(BSCL2):c.1034G>T (p.Arg345Leu)
|
rs202072835
|
|
NM_001122955.4(BSCL2):c.1038G>T (p.Lys346Asn)
|
rs1565143263
|
|
NM_001122955.4(BSCL2):c.1048C>G (p.Arg350Gly)
|
rs763070770
|
|
NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=)
|
|
|
NM_001122955.4(BSCL2):c.1063C>T (p.His355Tyr)
|
|
|
NM_001122955.4(BSCL2):c.1072+16G>C
|
|
|
NM_001122955.4(BSCL2):c.1072+3A>G
|
|
|
NM_001122955.4(BSCL2):c.1072+7dup
|
rs1554982976
|
|
NM_001122955.4(BSCL2):c.1073-14C>T
|
rs759489687
|
|
NM_001122955.4(BSCL2):c.1073-16C>G
|
|
|
NM_001122955.4(BSCL2):c.1073-16C>T
|
|
|
NM_001122955.4(BSCL2):c.1073-16del
|
|
|
NM_001122955.4(BSCL2):c.1073-8A>T
|
rs2134690260
|
|
NM_001122955.4(BSCL2):c.1075C>T (p.Pro359Ser)
|
rs2134690233
|
|
NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=)
|
|
|
NM_001122955.4(BSCL2):c.1087GAG[1] (p.Glu364del)
|
|
|
NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=)
|
|
|
NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser)
|
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
NM_001122955.4(BSCL2):c.1108_1109del (p.Asp370fs)
|
rs1554982914
|
|
NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=)
|
|
|
NM_001122955.4(BSCL2):c.1113del (p.Thr372fs)
|
rs2134690008
|
|
NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=)
|
rs2134689968
|
|
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His)
|
rs778455259
|
|
NM_001122955.4(BSCL2):c.1120G>T (p.Asp374Tyr)
|
rs778455259
|
|
NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter)
|
rs1945289474
|
|
NM_001122955.4(BSCL2):c.1141C>A (p.Pro381Thr)
|
rs1294077057
|
|
NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=)
|
rs150914934
|
|
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)
|
|
|
NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala)
|
|
|
NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=)
|
|
|
NM_001122955.4(BSCL2):c.1153+12C>T
|
|
|
NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln)
|
|
|
NM_001122955.4(BSCL2):c.1154-1del
|
rs1945285043
|
|
NM_001122955.4(BSCL2):c.1154-20C>T
|
|
|
NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter)
|
rs2134689565
|
|
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)
|
rs17850877
|
|
NM_001122955.4(BSCL2):c.1168G>C (p.Glu390Gln)
|
|
|
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)
|
rs769661232
|
|
NM_001122955.4(BSCL2):c.1171G>A (p.Glu391Lys)
|
rs1195655527
|
|
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)
|
rs556562410
|
|
NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=)
|
rs563653317
|
|
NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu)
|
|
|
NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=)
|
|
|
NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=)
|
|
|
NM_001122955.4(BSCL2):c.1234+19C>A
|
|
|
NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA
|
|
|
NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=)
|
|
|
NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=)
|
rs1945277080
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
NM_001122955.4(BSCL2):c.1268C>T (p.Thr423Met)
|
rs1266361176
|
|
NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln)
|
|
|
NM_001122955.4(BSCL2):c.1276A>G (p.Asn426Asp)
|
rs1554982825
|
|
NM_001122955.4(BSCL2):c.1277A>G (p.Asn426Ser)
|
rs1450251165
|
|
NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=)
|
|
|
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4])
|
rs771054711
|
|
NM_001122955.4(BSCL2):c.1288C>A (p.Pro430Thr)
|
|
|
NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro)
|
|
|
NM_001122955.4(BSCL2):c.1295C>T (p.Pro432Leu)
|
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro)
|
rs199787351
|
|
NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=)
|
rs1945274691
|
|
NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=)
|
|
|
NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser)
|
rs1488410118
|
|
NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=)
|
|
|
NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala)
|
rs779952369
|
|
NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=)
|
rs1426557167
|
|
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs)
|
rs779154593
|
|
NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=)
|
rs2134688373
|
|
NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=)
|
|
|
NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile)
|
rs1945272396
|
|
NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=)
|
rs1590867827
|
|
NM_001122955.4(BSCL2):c.1376G>A (p.Cys459Tyr)
|
rs775890636
|
|
NM_001122955.4(BSCL2):c.193A>G (p.Met65Val)
|
|
|
NM_001122955.4(BSCL2):c.205C>T (p.Pro69Ser)
|
|
|
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=)
|
rs2083512739
|
|
NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile)
|
rs770641122
|
|
NM_001122955.4(BSCL2):c.250T>G (p.Leu84Val)
|
|
|
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His)
|
|
|
NM_001122955.4(BSCL2):c.264C>A (p.Ala88=)
|
rs2134740784
|
|
NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys)
|
|
|
NM_001122955.4(BSCL2):c.266G>C (p.Arg89Pro)
|
rs780387759
|
|
NM_001122955.4(BSCL2):c.266G>T (p.Arg89Leu)
|
rs780387759
|
|
NM_001122955.4(BSCL2):c.268A>T (p.Arg90Trp)
|
rs1428360757
|
|
NM_001122955.4(BSCL2):c.273G>A (p.Leu91=)
|
rs572867847
|
|
NM_001122955.4(BSCL2):c.289G>A (p.Val97Met)
|
rs2083510633
|
|
NM_001122955.4(BSCL2):c.297C>T (p.Phe99=)
|
rs1590885150
|
|
NM_001122955.4(BSCL2):c.311T>A (p.Leu104His)
|
rs990055355
|
|
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly)
|
|
|
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe)
|
rs1057517657
|
|
NM_001122955.4(BSCL2):c.348C>T (p.Phe116=)
|
rs1590885075
|
|
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys)
|
|
|
NM_001122955.4(BSCL2):c.357C>T (p.Ser119=)
|
|
|
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe)
|
rs370905417
|
|
NM_001122955.4(BSCL2):c.361A>G (p.Met121Val)
|
rs2134740508
|
|
NM_001122955.4(BSCL2):c.363G>T (p.Met121Ile)
|
rs2134740499
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
NM_001122955.4(BSCL2):c.368C>T (p.Thr123Ile)
|
rs1308826157
|
|
NM_001122955.4(BSCL2):c.371_374dup (p.His126fs)
|
|
|
NM_001122955.4(BSCL2):c.376C>T (p.His126Tyr)
|
|
|
NM_001122955.4(BSCL2):c.388G>T (p.Val130Leu)
|
rs2083508973
|
|
NM_001122955.4(BSCL2):c.396C>G (p.Phe132Leu)
|
|
|
NM_001122955.4(BSCL2):c.404+11C>A
|
|
|
NM_001122955.4(BSCL2):c.404+11C>G
|
rs375818964
|
|
NM_001122955.4(BSCL2):c.404+11C>T
|
|
|
NM_001122955.4(BSCL2):c.404+14_404+16del
|
|
|
NM_001122955.4(BSCL2):c.404+16T>C
|
|
|
NM_001122955.4(BSCL2):c.404+17A>G
|
|
|
NM_001122955.4(BSCL2):c.405-16del
|
|
|
NM_001122955.4(BSCL2):c.405-21TCC[2]
|
rs768556778
|
|
NM_001122955.4(BSCL2):c.405-7C>T
|
rs1554985037
|
|
NM_001122955.4(BSCL2):c.409G>A (p.Asp137Asn)
|
rs879253900
|
|
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys)
|
rs1590881712
|
|
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe)
|
rs1590881708
|
|
NM_001122955.4(BSCL2):c.440C>T (p.Ser147Phe)
|
|
|
NM_001122955.4(BSCL2):c.445C>A (p.Pro149Thr)
|
|
|
NM_001122955.4(BSCL2):c.452C>G (p.Ala151Gly)
|
rs1003234218
|
|
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala)
|
rs1590881633
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)
|
rs772536764
|
|
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys)
|
rs772536764
|
|
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
|
|
|
NM_001122955.4(BSCL2):c.480T>C (p.Arg160=)
|
rs2134729590
|
|
NM_001122955.4(BSCL2):c.486+7A>G
|
rs1554984999
|
|
NM_001122955.4(BSCL2):c.486+8T>G
|
rs1238731769
|
|
NM_001122955.4(BSCL2):c.487-19T>C
|
|
|
NM_001122955.4(BSCL2):c.487-1G>A
|
|
|
NM_001122955.4(BSCL2):c.487-20A>T
|
rs115756273
|
|
NM_001122955.4(BSCL2):c.487-4G>A
|
|
|
NM_001122955.4(BSCL2):c.501A>G (p.Gly167=)
|
rs1590873161
|
|
NM_001122955.4(BSCL2):c.506C>T (p.Pro169Leu)
|
rs1325008761
|
|
NM_001122955.4(BSCL2):c.507G>C (p.Pro169=)
|
rs145393127
|
|
NM_001122955.4(BSCL2):c.507G>T (p.Pro169=)
|
rs145393127
|
|
NM_001122955.4(BSCL2):c.509A>T (p.Tyr170Phe)
|
|
|
NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys)
|
|
|
NM_001122955.4(BSCL2):c.512G>A (p.Arg171His)
|
rs377609967
|
|
NM_001122955.4(BSCL2):c.528T>G (p.Leu176=)
|
|
|
NM_001122955.4(BSCL2):c.546T>A (p.Pro182=)
|
rs753309219
|
|
NM_001122955.4(BSCL2):c.546T>C (p.Pro182=)
|
rs753309219
|
|
NM_001122955.4(BSCL2):c.549G>A (p.Val183=)
|
|
|
NM_001122955.4(BSCL2):c.555A>T (p.Gln185His)
|
|
|
NM_001122955.4(BSCL2):c.559T>G (p.Leu187Val)
|
|
|
NM_001122955.4(BSCL2):c.567_568insGGCATGGACCCCAGTAACACCACCTAAATAGCAGCCCTAATCATCGCCAATTCTTCTCGTTCGGGAGGTGAGGTTGTCGACTGCAGAGAGTCGATCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyMetAspProSerAsnThrThrTer)
|
|
|
NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_001122955.4(BSCL2):c.571T>C (p.Leu191=)
|
|
|
NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter)
|
|
|
NM_001122955.4(BSCL2):c.612C>T (p.Ile204=)
|
rs1590872981
|
|
NM_001122955.4(BSCL2):c.630+12_630+14del
|
rs1045195404
|
|
NM_001122955.4(BSCL2):c.630+15C>G
|
|
|
NM_001122955.4(BSCL2):c.630+4A>G
|
|
|
NM_001122955.4(BSCL2):c.630+5G>T
|
rs906321138
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.630G>C (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.630G>T (p.Ser210=)
|
|
|
NM_001122955.4(BSCL2):c.631-5G>A
|
|
|
NM_001122955.4(BSCL2):c.631-6C>G
|
rs768294248
|
|
NM_001122955.4(BSCL2):c.631-7C>A
|
rs1945347921
|
|
NM_001122955.4(BSCL2):c.631-9C>T
|
rs1245552202
|
|
NM_001122955.4(BSCL2):c.633G>A (p.Val211=)
|
|
|
NM_001122955.4(BSCL2):c.652G>C (p.Asp218His)
|
|
|
NM_001122955.4(BSCL2):c.666G>A (p.Met222Ile)
|
|
|
NM_001122955.4(BSCL2):c.675A>G (p.Thr225=)
|
|
|
NM_001122955.4(BSCL2):c.675A>T (p.Thr225=)
|
rs2134696441
|
|
NM_001122955.4(BSCL2):c.678G>A (p.Leu226=)
|
rs2134696423
|
|
NM_001122955.4(BSCL2):c.679G>T (p.Val227Phe)
|
rs1565144788
|
|
NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del)
|
rs1131691748
|
|
NM_001122955.4(BSCL2):c.684C>T (p.Phe228=)
|
|
|
NM_001122955.4(BSCL2):c.711A>C (p.Ala237=)
|
|
|
NM_001122955.4(BSCL2):c.742T>C (p.Tyr248His)
|
rs1945345474
|
|
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)
|
rs10776
|
|
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)
|
|
|
NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn)
|
|
|
NM_001122955.4(BSCL2):c.765+16G>A
|
rs183210574
|
|
NM_001122955.4(BSCL2):c.765+7G>C
|
|
|
NM_001122955.4(BSCL2):c.765G>T (p.Ser255=)
|
rs774120735
|
|
NM_001122955.4(BSCL2):c.766-10C>G
|
rs367716875
|
|
NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=)
|
rs746544677
|
|
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile)
|
rs1565144468
|
|
NM_001122955.4(BSCL2):c.790_792del (p.Ile264del)
|
|
|
NM_001122955.4(BSCL2):c.792T>C (p.Ile264=)
|
rs1590870663
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)
|
rs998498207
|
|
NM_001122955.4(BSCL2):c.812T>A (p.Ile271Asn)
|
rs2134695330
|
|
NM_001122955.4(BSCL2):c.816G>A (p.Gln272=)
|
|
|
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs)
|
rs758843908
|
|
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)
|
|
|
NM_001122955.4(BSCL2):c.830A>C (p.Tyr277Ser)
|
|
|
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)
|
|
|
NM_001122955.4(BSCL2):c.836G>T (p.Arg279Leu)
|
rs142608646
|
|
NM_001122955.4(BSCL2):c.849C>G (p.His283Gln)
|
rs911982128
|
|
NM_001122955.4(BSCL2):c.853A>G (p.Thr285Ala)
|
rs749862649
|
|
NM_001122955.4(BSCL2):c.859C>T (p.Leu287Phe)
|
rs1945335146
|
|
NM_001122955.4(BSCL2):c.863+10del
|
rs2134695116
|
|
NM_001122955.4(BSCL2):c.863+14T>C
|
|
|
NM_001122955.4(BSCL2):c.864-16C>G
|
|
|
NM_001122955.4(BSCL2):c.864-9del
|
|
|
NM_001122955.4(BSCL2):c.873A>T (p.Leu291=)
|
|
|
NM_001122955.4(BSCL2):c.882C>G (p.Phe294Leu)
|
rs786204131
|
|
NM_001122955.4(BSCL2):c.883C>A (p.Pro295Thr)
|
rs935812889
|
|
NM_001122955.4(BSCL2):c.887T>C (p.Met296Thr)
|
|
|
NM_001122955.4(BSCL2):c.897C>T (p.Ala299=)
|
rs2134692099
|
|
NM_001122955.4(BSCL2):c.906T>G (p.Gly302=)
|
rs1590869477
|
|
NM_001122955.4(BSCL2):c.908T>C (p.Val303Ala)
|
|
|
NM_001122955.4(BSCL2):c.909T>G (p.Val303=)
|
|
|
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)
|
|
|
NM_001122955.4(BSCL2):c.923C>T (p.Thr308Ile)
|
rs758460754
|
|
NM_001122955.4(BSCL2):c.925T>A (p.Phe309Ile)
|
|
|
NM_001122955.4(BSCL2):c.928C>T (p.Leu310Phe)
|
|
|
NM_001122955.4(BSCL2):c.932G>A (p.Ser311Asn)
|
|
|
NM_001122955.4(BSCL2):c.947T>G (p.Phe316Cys)
|
rs1470975752
|
|
NM_001122955.4(BSCL2):c.960G>A (p.Gln320=)
|
rs1158119987
|
|
NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.971G>C (p.Gly324Ala)
|
rs1945304059
|
|
NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser)
|
rs760106114
|
|
NM_001122955.4(BSCL2):c.973G>T (p.Gly325Cys)
|
rs760106114
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001136472.2(LITAF):c.100C>T (p.Pro34Ser)
|
|
|
NM_001136472.2(LITAF):c.112G>A (p.Ala38Thr)
|
|
|
NM_001136472.2(LITAF):c.129A>G (p.Pro43=)
|
|
|
NM_001136472.2(LITAF):c.134C>T (p.Thr45Met)
|
|
|
NM_001136472.2(LITAF):c.143T>C (p.Val48Ala)
|
|
|
NM_001136472.2(LITAF):c.149G>T (p.Gly50Val)
|
|
|
NM_001136472.2(LITAF):c.168del (p.Met56fs)
|
rs2064272514
|
|
NM_001136472.2(LITAF):c.176C>G (p.Pro59Arg)
|
|
|
NM_001136472.2(LITAF):c.182A>G (p.Tyr61Cys)
|
rs2141716501
|
|
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser)
|
rs2064271547
|
|
NM_001136472.2(LITAF):c.205C>T (p.Pro69Ser)
|
rs1555466907
|
|
NM_001136472.2(LITAF):c.215A>G (p.Asn72Ser)
|
|
|
NM_001136472.2(LITAF):c.217C>T (p.Pro73Ser)
|
|
|
NM_001136472.2(LITAF):c.220+12del
|
|
|
NM_001136472.2(LITAF):c.226G>T (p.Val76Leu)
|
rs371334679
|
|
NM_001136472.2(LITAF):c.232A>G (p.Thr78Ala)
|
|
|
NM_001136472.2(LITAF):c.236T>C (p.Val79Ala)
|
rs1597329501
|
|
NM_001136472.2(LITAF):c.241G>T (p.Val81Leu)
|
|
|
NM_001136472.2(LITAF):c.270C>T (p.Arg90=)
|
|
|
NM_001136472.2(LITAF):c.271C>T (p.Pro91Ser)
|
|
|
NM_001136472.2(LITAF):c.272C>G (p.Pro91Arg)
|
rs11544251
|
|
NM_001136472.2(LITAF):c.272C>T (p.Pro91Leu)
|
rs11544251
|
|
NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg)
|
rs2064218551
|
|
NM_001136472.2(LITAF):c.284G>A (p.Cys95Tyr)
|
|
|
NM_001136472.2(LITAF):c.285T>C (p.Cys95=)
|
|
|
NM_001136472.2(LITAF):c.310G>T (p.Val104Leu)
|
rs373445989
|
|
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)
|
rs1324125372
|
|
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.332C>T (p.Ala111Val)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.335G>A (p.Gly112Asp)
|
|
|
NM_001136472.2(LITAF):c.340C>G (p.Leu114Val)
|
rs1567235442
|
|
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520
|
|
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521
|
|
NM_001136472.2(LITAF):c.348G>C (p.Trp116Cys)
|
|
|
NM_001136472.2(LITAF):c.351G>T (p.Leu117=)
|
|
|
NM_001136472.2(LITAF):c.358G>A (p.Gly120Arg)
|
|
|
NM_001136472.2(LITAF):c.364C>T (p.Leu122=)
|
rs104894522
|
|
NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro)
|
rs1597329148
|
|
NM_001136472.2(LITAF):c.374T>C (p.Leu125Pro)
|
rs2064215657
|
|
NM_001136472.2(LITAF):c.377+10C>T
|
rs2064215359
|
|
NM_001136472.2(LITAF):c.378-22GT[2]
|
|
|
NM_001136472.2(LITAF):c.378-7C>T
|
rs969563231
|
|
NM_001136472.2(LITAF):c.381C>T (p.Cys127=)
|
|
|
NM_001136472.2(LITAF):c.382A>G (p.Ile128Val)
|
|
|
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr)
|
rs797044847
|
|
NM_001136472.2(LITAF):c.387G>A (p.Ala129=)
|
|
|
NM_001136472.2(LITAF):c.388G>T (p.Gly130Cys)
|
rs879254325
|
|
NM_001136472.2(LITAF):c.389G>C (p.Gly130Ala)
|
rs2141682573
|
|
NM_001136472.2(LITAF):c.392G>A (p.Cys131Tyr)
|
|
|
NM_001136472.2(LITAF):c.39T>G (p.Pro13=)
|
rs1597333130
|
|
NM_001136472.2(LITAF):c.3G>A (p.Met1Ile)
|
rs560130408
|
|
NM_001136472.2(LITAF):c.3G>T (p.Met1Ile)
|
|
|
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)
|
rs281865135
|
|
NM_001136472.2(LITAF):c.404C>T (p.Pro135Leu)
|
rs797044848
|
|
NM_001136472.2(LITAF):c.407T>C (p.Phe136Ser)
|
rs2141682435
|
|
NM_001136472.2(LITAF):c.409T>C (p.Cys137Arg)
|
rs2064155943
|
|
NM_001136472.2(LITAF):c.409T>G (p.Cys137Gly)
|
rs2064155943
|
|
NM_001136472.2(LITAF):c.412G>A (p.Val138Met)
|
rs780788687
|
|
NM_001136472.2(LITAF):c.415G>C (p.Asp139His)
|
|
|
NM_001136472.2(LITAF):c.424C>T (p.Gln142Ter)
|
rs1174214039
|
|
NM_001136472.2(LITAF):c.429C>A (p.Asp143Glu)
|
rs374918259
|
|
NM_001136472.2(LITAF):c.429C>T (p.Asp143=)
|
|
|
NM_001136472.2(LITAF):c.430G>T (p.Val144Leu)
|
rs121908615
|
|
NM_001136472.2(LITAF):c.449A>G (p.Asn150Ser)
|
|
|
NM_001136472.2(LITAF):c.450C>A (p.Asn150Lys)
|
|
|
NM_001136472.2(LITAF):c.450C>G (p.Asn150Lys)
|
|
|
NM_001136472.2(LITAF):c.458C>T (p.Ala153Val)
|
|
|
NM_001136472.2(LITAF):c.468C>T (p.Gly156=)
|
rs774123275
|
|
NM_001136472.2(LITAF):c.46G>T (p.Ala16Ser)
|
rs2064275795
|
|
NM_001136472.2(LITAF):c.470C>G (p.Thr157Ser)
|
|
|
NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys)
|
rs772527709
|
|
NM_001136472.2(LITAF):c.483G>C (p.Leu161Phe)
|
|
|
NM_001136472.2(LITAF):c.50C>T (p.Pro17Leu)
|
|
|
NM_001136472.2(LITAF):c.51A>G (p.Pro17=)
|
rs751525365
|
|
NM_001136472.2(LITAF):c.55G>A (p.Ala19Thr)
|
rs753060675
|
|
NM_001136472.2(LITAF):c.56C>T (p.Ala19Val)
|
|
|
NM_001136472.2(LITAF):c.5C>T (p.Ser2Leu)
|
|
|
NM_001136472.2(LITAF):c.85G>A (p.Val29Ile)
|
rs767809270
|
|
NM_001142386.3(PDK3):c.1218A>G (p.Gln406=)
|
|
|
NM_001142386.3(PDK3):c.1226T>C (p.Ile409Thr)
|
|
|
NM_001190716.2(DNM2):c.2544-3_2544-1del
|
|
|
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
|
rs1602487890
|
|
NM_001303256.3(MORC2):c.1026G>T (p.Leu342=)
|
|
|
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His)
|
rs753651729
|
|
NM_001303256.3(MORC2):c.1028G>T (p.Arg343Leu)
|
|
|
NM_001303256.3(MORC2):c.1038C>A (p.Ala346=)
|
rs199527803
|
|
NM_001303256.3(MORC2):c.1065C>G (p.Ala355=)
|
|
|
NM_001303256.3(MORC2):c.1073+13C>G
|
|
|
NM_001303256.3(MORC2):c.1073+15T>C
|
|
|
NM_001303256.3(MORC2):c.1073G>A (p.Arg358Gln)
|
|
|
NM_001303256.3(MORC2):c.1074-20G>C
|
|
|
NM_001303256.3(MORC2):c.1074-7T>G
|
|
|
NM_001303256.3(MORC2):c.1075G>T (p.Ala359Ser)
|
rs2147257419
|
|
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe)
|
rs1268129848
|
|
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
|
rs1602486072
|
|
NM_001303256.3(MORC2):c.109G>C (p.Val37Leu)
|
|
|
NM_001303256.3(MORC2):c.1110T>C (p.Phe370=)
|
|
|
NM_001303256.3(MORC2):c.1129C>T (p.Arg377Trp)
|
|
|
NM_001303256.3(MORC2):c.1130G>A (p.Arg377Gln)
|
|
|
NM_001303256.3(MORC2):c.1133A>T (p.Asp378Val)
|
rs2040683848
|
|
NM_001303256.3(MORC2):c.1140T>C (p.Asp380=)
|
|
|
NM_001303256.3(MORC2):c.1152C>T (p.Ile384=)
|
rs1246103819
|
|
NM_001303256.3(MORC2):c.1166G>A (p.Arg389Gln)
|
|
|
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)
|
rs1555938796
|
|
NM_001303256.3(MORC2):c.1186A>G (p.Lys396Glu)
|
|
|
NM_001303256.3(MORC2):c.1191G>A (p.Val397=)
|
|
|
NM_001303256.3(MORC2):c.1206dup (p.Gly403fs)
|
|
|
NM_001303256.3(MORC2):c.1209G>T (p.Gly403=)
|
|
|
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val)
|
rs1489926879
|
|
NM_001303256.3(MORC2):c.1214+10del
|
rs2147257013
|
|
NM_001303256.3(MORC2):c.1214+9T>C
|
|
|
NM_001303256.3(MORC2):c.1215-11_1215-10delinsCT
|
|
|
NM_001303256.3(MORC2):c.1215-14_1215-13del
|
|
|
NM_001303256.3(MORC2):c.1215-8C>T
|
|
|
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)
|
rs1602485728
|
|
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
|
rs1555938741
|
|
NM_001303256.3(MORC2):c.1226GGGTTGTTG[3] (p.409GVV[3])
|
rs1555938722
|
|
NM_001303256.3(MORC2):c.123-14_123-10del
|
|
|
NM_001303256.3(MORC2):c.123-15C>A
|
|
|
NM_001303256.3(MORC2):c.123-3C>T
|
|
|
NM_001303256.3(MORC2):c.123-6T>C
|
rs2147303586
|
|
NM_001303256.3(MORC2):c.1230T>G (p.Val410=)
|
|
|
NM_001303256.3(MORC2):c.1245T>A (p.Asp415Glu)
|
|
|
NM_001303256.3(MORC2):c.1250C>G (p.Pro417Arg)
|
rs2147256638
|
|
NM_001303256.3(MORC2):c.126T>C (p.Asp42=)
|
rs2040973309
|
|
NM_001303256.3(MORC2):c.1270A>G (p.Thr424Ala)
|
rs2147256596
|
|
NM_001303256.3(MORC2):c.1271C>A (p.Thr424Lys)
|
|
|
NM_001303256.3(MORC2):c.1271C>G (p.Thr424Arg)
|
|
|
NM_001303256.3(MORC2):c.1280A>G (p.Lys427Arg)
|
rs2147256585
|
|
NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val)
|
rs2040679845
|
|
NM_001303256.3(MORC2):c.129T>C (p.Ala43=)
|
rs2147303532
|
|
NM_001303256.3(MORC2):c.1304A>T (p.Glu435Val)
|
|
|
NM_001303256.3(MORC2):c.1305G>T (p.Glu435Asp)
|
rs2040679430
|
|
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)
|
rs2040678770
|
|
NM_001303256.3(MORC2):c.1346A>G (p.Gln449Arg)
|
rs2040678442
|
|
NM_001303256.3(MORC2):c.1366A>G (p.Ile456Val)
|
rs1237819801
|
|
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
|
rs777612473
|
|
NM_001303256.3(MORC2):c.1369G>A (p.Ala457Thr)
|
|
|
NM_001303256.3(MORC2):c.1370-19A>G
|
|
|
NM_001303256.3(MORC2):c.1370-19A>T
|
|
|
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)
|
rs1569192110
|
|
NM_001303256.3(MORC2):c.1381A>G (p.Ile461Val)
|
rs2147255910
|
|
NM_001303256.3(MORC2):c.1383C>T (p.Ile461=)
|
rs2040674864
|
|
NM_001303256.3(MORC2):c.1396G>A (p.Asp466Asn)
|
|
|
NM_001303256.3(MORC2):c.1430A>T (p.Gln477Leu)
|
|
|
NM_001303256.3(MORC2):c.1446G>A (p.Glu482=)
|
|
|
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
|
rs897870181
|
|
NM_001303256.3(MORC2):c.1459C>T (p.Arg487Cys)
|
|
|
NM_001303256.3(MORC2):c.1462C>T (p.Arg488Trp)
|
rs1356503784
|
|
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
|
rs1602485184
|
|
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr)
|
rs1569192031
|
|
NM_001303256.3(MORC2):c.1491C>T (p.Ile497=)
|
rs2147255441
|
|
NM_001303256.3(MORC2):c.1498+15T>C
|
|
|
NM_001303256.3(MORC2):c.1499-12dup
|
|
|
NM_001303256.3(MORC2):c.1499-14T>A
|
|
|
NM_001303256.3(MORC2):c.1499-19G>A
|
rs368857982
|
|
NM_001303256.3(MORC2):c.1501T>C (p.Leu501=)
|
|
|
NM_001303256.3(MORC2):c.1506T>C (p.Cys502=)
|
|
|
NM_001303256.3(MORC2):c.1524C>G (p.Leu508=)
|
|
|
NM_001303256.3(MORC2):c.1531C>T (p.Gln511Ter)
|
|
|
NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg)
|
rs2040663423
|
|
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys)
|
rs1407971807
|
|
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser)
|
rs1555938391
|
|
NM_001303256.3(MORC2):c.1565C>T (p.Thr522Ile)
|
rs778121452
|
|
NM_001303256.3(MORC2):c.1569G>A (p.Trp523Ter)
|
rs2147253941
|
|
NM_001303256.3(MORC2):c.157+10G>A
|
|
|
NM_001303256.3(MORC2):c.1576T>C (p.Ser526Pro)
|
|
|
NM_001303256.3(MORC2):c.158-5T>A
|
|
|
NM_001303256.3(MORC2):c.158-5T>C
|
rs764556739
|
|
NM_001303256.3(MORC2):c.158-5T>G
|
rs764556739
|
|
NM_001303256.3(MORC2):c.158-8T>C
|
|
|
NM_001303256.3(MORC2):c.158-9C>T
|
|
|
NM_001303256.3(MORC2):c.1586C>A (p.Pro529His)
|
|
|
NM_001303256.3(MORC2):c.1592C>G (p.Pro531Arg)
|
|
|
NM_001303256.3(MORC2):c.1604+10T>C
|
rs780217216
|
|
NM_001303256.3(MORC2):c.1604+17A>G
|
|
|
NM_001303256.3(MORC2):c.1604+20A>G
|
|
|
NM_001303256.3(MORC2):c.1605-17G>T
|
|
|
NM_001303256.3(MORC2):c.1605-20G>A
|
|
|
NM_001303256.3(MORC2):c.160A>G (p.Arg54Gly)
|
|
|
NM_001303256.3(MORC2):c.1617T>C (p.Ser539=)
|
|
|
NM_001303256.3(MORC2):c.1626G>T (p.Lys542Asn)
|
rs2040655936
|
|
NM_001303256.3(MORC2):c.1692G>C (p.Leu564=)
|
|
|
NM_001303256.3(MORC2):c.16T>G (p.Tyr6Asp)
|
|
|
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)
|
rs2040654543
|
|
NM_001303256.3(MORC2):c.1727A>C (p.Glu576Ala)
|
rs2147252673
|
|
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
|
rs756912389
|
|
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
|
rs760345377
|
|
NM_001303256.3(MORC2):c.1737+12A>G
|
|
|
NM_001303256.3(MORC2):c.1737+8G>A
|
|
|
NM_001303256.3(MORC2):c.1738-15_1738-13del
|
|
|
NM_001303256.3(MORC2):c.1738-17T>A
|
|
|
NM_001303256.3(MORC2):c.1738-19_1738-17del
|
|
|
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
|
rs770774096
|
|
NM_001303256.3(MORC2):c.1755C>T (p.Arg585=)
|
|
|
NM_001303256.3(MORC2):c.1797C>A (p.Thr599=)
|
rs2147249788
|
|
NM_001303256.3(MORC2):c.1804T>A (p.Ser602Thr)
|
|
|
NM_001303256.3(MORC2):c.1812+14G>A
|
rs371904598
|
|
NM_001303256.3(MORC2):c.1812+14G>C
|
rs371904598
|
|
NM_001303256.3(MORC2):c.1812+17T>C
|
rs1397297158
|
|
NM_001303256.3(MORC2):c.1812+17T>G
|
|
|
NM_001303256.3(MORC2):c.1812+5dup
|
|
|
NM_001303256.3(MORC2):c.1813-16G>T
|
|
|
NM_001303256.3(MORC2):c.1813-3T>A
|
rs1825781520
|
|
NM_001303256.3(MORC2):c.1813-3del
|
rs777649506
|
|
NM_001303256.3(MORC2):c.1813-6T>C
|
|
|
NM_001303256.3(MORC2):c.1813-6T>G
|
|
|
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
|
rs1602482166
|
|
NM_001303256.3(MORC2):c.1822C>T (p.Arg608Cys)
|
rs373963382
|
|
NM_001303256.3(MORC2):c.1828C>T (p.Pro610Ser)
|
|
|
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)
|
rs751657222
|
|
NM_001303256.3(MORC2):c.1845G>A (p.Ser615=)
|
|
|
NM_001303256.3(MORC2):c.1848C>T (p.Pro616=)
|
|
|
NM_001303256.3(MORC2):c.1859dup (p.Val621fs)
|
rs1569190645
|
|
NM_001303256.3(MORC2):c.1866C>A (p.Ile622=)
|
|
|
NM_001303256.3(MORC2):c.1890T>G (p.Pro630=)
|
rs780961511
|
|
NM_001303256.3(MORC2):c.1909C>A (p.Pro637Thr)
|
rs777740636
|
|
NM_001303256.3(MORC2):c.190C>G (p.Leu64Val)
|
rs2147286618
|
|
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
|
rs1602481898
|
|
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=)
|
rs1555937681
|
|
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
|
rs763542037
|
|
NM_001303256.3(MORC2):c.1960C>T (p.Pro654Ser)
|
|
|
NM_001303256.3(MORC2):c.1972G>A (p.Ala658Thr)
|
|
|
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln)
|
rs769791429
|
|
NM_001303256.3(MORC2):c.1976G>C (p.Arg659Pro)
|
rs769791429
|
|
NM_001303256.3(MORC2):c.1984G>A (p.Ala662Thr)
|
|
|
NM_001303256.3(MORC2):c.1988G>A (p.Ser663Asn)
|
rs2147248609
|
|
NM_001303256.3(MORC2):c.1995T>C (p.Ser665=)
|
rs1331830441
|
|
NM_001303256.3(MORC2):c.19A>G (p.Ser7Gly)
|
|
|
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)
|
rs747230744
|
|
NM_001303256.3(MORC2):c.2022C>T (p.Pro674=)
|
rs1438417919
|
|
NM_001303256.3(MORC2):c.2023C>A (p.Arg675=)
|
|
|
NM_001303256.3(MORC2):c.2023C>G (p.Arg675Gly)
|
|
|
NM_001303256.3(MORC2):c.2023C>T (p.Arg675Ter)
|
|
|
NM_001303256.3(MORC2):c.2032G>A (p.Ala678Thr)
|
|
|
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala)
|
rs2040630159
|
|
NM_001303256.3(MORC2):c.2049G>A (p.Lys683=)
|
|
|
NM_001303256.3(MORC2):c.2067C>T (p.Ala689=)
|
|
|
NM_001303256.3(MORC2):c.2072_2074delinsACC (p.Leu691_Val692delinsHisLeu)
|
rs2147248271
|
|
NM_001303256.3(MORC2):c.2076GCA[1] (p.Gln694del)
|
rs2147248245
|
|
NM_001303256.3(MORC2):c.2097A>G (p.Leu699=)
|
rs760570473
|
|
NM_001303256.3(MORC2):c.2119C>G (p.Arg707Gly)
|
|
|
NM_001303256.3(MORC2):c.2122G>A (p.Glu708Lys)
|
|
|
NM_001303256.3(MORC2):c.2134C>T (p.Pro712Ser)
|
|
|
NM_001303256.3(MORC2):c.2138A>G (p.Lys713Arg)
|
|
|
NM_001303256.3(MORC2):c.2142C>T (p.Val714=)
|
|
|
NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala)
|
rs2040627406
|
|
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
|
rs1602481313
|
|
NM_001303256.3(MORC2):c.2187C>G (p.Leu729=)
|
|
|
NM_001303256.3(MORC2):c.2193+12G>T
|
rs367657160
|
|
NM_001303256.3(MORC2):c.2193+14C>A
|
|
|
NM_001303256.3(MORC2):c.2193+7C>T
|
|
|
NM_001303256.3(MORC2):c.2193G>A (p.Pro731=)
|
|
|
NM_001303256.3(MORC2):c.2194-4C>G
|
rs756087774
|
|
NM_001303256.3(MORC2):c.2194-7G>C
|
rs1299926814
|
|
NM_001303256.3(MORC2):c.219G>A (p.Met73Ile)
|
|
|
NM_001303256.3(MORC2):c.2213G>A (p.Arg738Gln)
|
|
|
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly)
|
rs1555942389
|
|
NM_001303256.3(MORC2):c.2221G>A (p.Ala741Thr)
|
|
|
NM_001303256.3(MORC2):c.223C>T (p.Pro75Ser)
|
|
|
NM_001303256.3(MORC2):c.2247GGA[1] (p.Glu751del)
|
rs1247915167
|
|
NM_001303256.3(MORC2):c.226+10G>A
|
|
|
NM_001303256.3(MORC2):c.226+12G>A
|
rs2147286507
|
|
NM_001303256.3(MORC2):c.2265G>A (p.Arg755=)
|
|
|
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr)
|
rs2040618367
|
|
NM_001303256.3(MORC2):c.227-16G>T
|
|
|
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
|
rs754626172
|
|
NM_001303256.3(MORC2):c.2290T>C (p.Phe764Leu)
|
|
|
NM_001303256.3(MORC2):c.2291T>A (p.Phe764Tyr)
|
|
|
NM_001303256.3(MORC2):c.2292T>C (p.Phe764=)
|
rs1396767941
|
|
NM_001303256.3(MORC2):c.2316C>T (p.Asp772=)
|
rs1174370013
|
|
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=)
|
rs377574758
|
|
NM_001303256.3(MORC2):c.2319G>C (p.Ser773=)
|
rs377574758
|
|
NM_001303256.3(MORC2):c.2325+11G>A
|
|
|
NM_001303256.3(MORC2):c.2325+11G>T
|
|
|
NM_001303256.3(MORC2):c.2325+18G>C
|
|
|
NM_001303256.3(MORC2):c.2326-10C>G
|
|
|
NM_001303256.3(MORC2):c.2326-11T>A
|
|
|
NM_001303256.3(MORC2):c.2326-12C>T
|
|
|
NM_001303256.3(MORC2):c.2326-19T>C
|
rs1324766713
|
|
NM_001303256.3(MORC2):c.2326C>T (p.Leu776Phe)
|
|
|
NM_001303256.3(MORC2):c.2329T>C (p.Ser777Pro)
|
|
|
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
|
rs751495570
|
|
NM_001303256.3(MORC2):c.2352C>T (p.Asp784=)
|
|
|
NM_001303256.3(MORC2):c.2361C>A (p.Asp787Glu)
|
rs766384151
|
|
NM_001303256.3(MORC2):c.2361C>T (p.Asp787=)
|
rs766384151
|
|
NM_001303256.3(MORC2):c.2372C>G (p.Ala791Gly)
|
|
|
NM_001303256.3(MORC2):c.2379A>C (p.Lys793Asn)
|
|
|
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)
|
rs2040606407
|
|
NM_001303256.3(MORC2):c.2380+16G>A
|
|
|
NM_001303256.3(MORC2):c.2380+16G>C
|
|
|
NM_001303256.3(MORC2):c.2380+16G>T
|
rs568871593
|
|
NM_001303256.3(MORC2):c.2380+17A>T
|
|
|
NM_001303256.3(MORC2):c.2380+6C>G
|
rs1555936909
|
|
NM_001303256.3(MORC2):c.2380+7T>A
|
rs1474616899
|
|
NM_001303256.3(MORC2):c.2381-18C>T
|
|
|
NM_001303256.3(MORC2):c.2381-19C>T
|
|
|
NM_001303256.3(MORC2):c.2381-8A>G
|
|
|
NM_001303256.3(MORC2):c.2381-9C>T
|
|
|
NM_001303256.3(MORC2):c.2386G>A (p.Gly796Arg)
|
|
|
NM_001303256.3(MORC2):c.2388G>T (p.Gly796=)
|
rs2147242521
|
|
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)
|
rs2040863533
|
|
NM_001303256.3(MORC2):c.2405G>A (p.Arg802His)
|
|
|
NM_001303256.3(MORC2):c.2423A>G (p.Tyr808Cys)
|
|
|
NM_001303256.3(MORC2):c.2427G>A (p.Thr809=)
|
|
|
NM_001303256.3(MORC2):c.2431C>T (p.Arg811Cys)
|
|
|
NM_001303256.3(MORC2):c.2433T>C (p.Arg811=)
|
|
|
NM_001303256.3(MORC2):c.2442C>T (p.Ala814=)
|
|
|
NM_001303256.3(MORC2):c.2443G>T (p.Val815Leu)
|
|
|
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
|
rs2040597405
|
|
NM_001303256.3(MORC2):c.2454C>T (p.Gly818=)
|
|
|
NM_001303256.3(MORC2):c.2456A>C (p.Lys819Thr)
|
|
|
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
|
rs2040597232
|
|
NM_001303256.3(MORC2):c.2466G>A (p.Val822=)
|
rs2040597200
|
|
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)
|
rs764479914
|
|
NM_001303256.3(MORC2):c.2469G>T (p.Arg823=)
|
rs41279971
|
|
NM_001303256.3(MORC2):c.2505G>A (p.Thr835=)
|
|
|
NM_001303256.3(MORC2):c.2508A>G (p.Thr836=)
|
|
|
NM_001303256.3(MORC2):c.2522+12A>G
|
|
|
NM_001303256.3(MORC2):c.2522+17G>A
|
rs199686987
|
|
NM_001303256.3(MORC2):c.2522+17G>C
|
|
|
NM_001303256.3(MORC2):c.2522+3A>G
|
rs2040596380
|
|
NM_001303256.3(MORC2):c.2523-21_2523-20del
|
|
|
NM_001303256.3(MORC2):c.2535C>A (p.Gly845=)
|
|
|
NM_001303256.3(MORC2):c.2535C>T (p.Gly845=)
|
|
|
NM_001303256.3(MORC2):c.2596C>T (p.Gln866Ter)
|
|
|
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)
|
rs864309504
|
|
NM_001303256.3(MORC2):c.2610G>C (p.Glu870Asp)
|
|
|
NM_001303256.3(MORC2):c.2617G>C (p.Val873Leu)
|
rs138350528
|
|
NM_001303256.3(MORC2):c.2619G>A (p.Val873=)
|
|
|
NM_001303256.3(MORC2):c.2622C>T (p.Gly874=)
|
|
|
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
|
rs1602477856
|
|
NM_001303256.3(MORC2):c.2635C>G (p.Gln879Glu)
|
rs1399798893
|
|
NM_001303256.3(MORC2):c.2643A>T (p.Ile881=)
|
rs1379697348
|
|
NM_001303256.3(MORC2):c.2644G>C (p.Ala882Pro)
|
|
|
NM_001303256.3(MORC2):c.2666C>T (p.Ser889Phe)
|
|
|
NM_001303256.3(MORC2):c.2667C>G (p.Ser889=)
|
rs565441094
|
|
NM_001303256.3(MORC2):c.2678G>C (p.Arg893Pro)
|
|
|
NM_001303256.3(MORC2):c.2680A>G (p.Ile894Val)
|
|
|
NM_001303256.3(MORC2):c.2684A>G (p.Glu895Gly)
|
|
|
NM_001303256.3(MORC2):c.2685G>A (p.Glu895=)
|
rs371685129
|
|
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser)
|
rs1555936530
|
|
NM_001303256.3(MORC2):c.269G>A (p.Arg90Gln)
|
|
|
NM_001303256.3(MORC2):c.2715C>T (p.His905=)
|
|
|
NM_001303256.3(MORC2):c.2719A>T (p.Thr907Ser)
|
rs2147240880
|
|
NM_001303256.3(MORC2):c.2730G>C (p.Leu910=)
|
|
|
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe)
|
rs1569188333
|
|
NM_001303256.3(MORC2):c.2738A>G (p.Gln913Arg)
|
|
|
NM_001303256.3(MORC2):c.2747+14T>C
|
|
|
NM_001303256.3(MORC2):c.2747+19T>C
|
|
|
NM_001303256.3(MORC2):c.2747+4del
|
|
|
NM_001303256.3(MORC2):c.2747G>A (p.Arg916Gln)
|
|
|
NM_001303256.3(MORC2):c.2748-15C>A
|
|
|
NM_001303256.3(MORC2):c.2748-3T>C
|
rs1602477344
|
|
NM_001303256.3(MORC2):c.2748-6_2748-4del
|
rs1407551364
|
|
NM_001303256.3(MORC2):c.2751T>C (p.Asn917=)
|
|
|
NM_001303256.3(MORC2):c.2759G>A (p.Arg920Gln)
|
rs762057484
|
|
NM_001303256.3(MORC2):c.2767C>T (p.Leu923=)
|
|
|
NM_001303256.3(MORC2):c.2779T>C (p.Phe927Leu)
|
|
|
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)
|
rs1413895387
|
|
NM_001303256.3(MORC2):c.2798A>C (p.Gln933Pro)
|
rs2147240279
|
|
NM_001303256.3(MORC2):c.2813A>G (p.Asn938Ser)
|
rs1349107983
|
|
NM_001303256.3(MORC2):c.2827A>G (p.Ile943Val)
|
|
|
NM_001303256.3(MORC2):c.2841+19T>C
|
|
|
NM_001303256.3(MORC2):c.2842-13C>T
|
|
|
NM_001303256.3(MORC2):c.2847G>A (p.Glu949=)
|
rs1285225047
|
|
NM_001303256.3(MORC2):c.284C>T (p.Thr95Ile)
|
|
|
NM_001303256.3(MORC2):c.2850C>T (p.Tyr950=)
|
|
|
NM_001303256.3(MORC2):c.2852T>G (p.Phe951Cys)
|
|
|
NM_001303256.3(MORC2):c.2902C>T (p.Arg968Cys)
|
|
|
NM_001303256.3(MORC2):c.2907T>C (p.Ala969=)
|
|
|
NM_001303256.3(MORC2):c.2912C>T (p.Ser971Phe)
|
|
|
NM_001303256.3(MORC2):c.2915G>A (p.Arg972Gln)
|
rs1278082078
|
|
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=)
|
rs372404658
|
|
NM_001303256.3(MORC2):c.2950G>A (p.Glu984Lys)
|
|
|
NM_001303256.3(MORC2):c.2952G>A (p.Glu984=)
|
|
|
NM_001303256.3(MORC2):c.2968A>C (p.Thr990Pro)
|
|
|
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)
|
rs2040516792
|
|
NM_001303256.3(MORC2):c.3003C>T (p.Ile1001=)
|
|
|
NM_001303256.3(MORC2):c.3007G>A (p.Ala1003Thr)
|
|
|
NM_001303256.3(MORC2):c.3008C>T (p.Ala1003Val)
|
|
|
NM_001303256.3(MORC2):c.3024G>A (p.Val1008=)
|
|
|
NM_001303256.3(MORC2):c.3030+19C>G
|
|
|
NM_001303256.3(MORC2):c.3030+9_3030+10delinsTT
|
rs2147229073
|
|
NM_001303256.3(MORC2):c.3031-15C>A
|
|
|
NM_001303256.3(MORC2):c.3031-19C>T
|
|
|
NM_001303256.3(MORC2):c.3031-9C>G
|
rs558377610
|
|
NM_001303256.3(MORC2):c.3031-9C>T
|
|
|
NM_001303256.3(MORC2):c.3046A>G (p.Thr1016Ala)
|
|
|
NM_001303256.3(MORC2):c.3064G>A (p.Ala1022Thr)
|
|
|
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=)
|
rs149110760
|
|
NM_001303256.3(MORC2):c.3082A>G (p.Ile1028Val)
|
|
|
NM_001303256.3(MORC2):c.309G>A (p.Gly103=)
|
rs372357681
|
|
NM_001303256.3(MORC2):c.317+17C>T
|
|
|
NM_001303256.3(MORC2):c.317+7A>C
|
rs775495530
|
|
NM_001303256.3(MORC2):c.318-20C>T
|
|
|
NM_001303256.3(MORC2):c.318-9C>G
|
rs2147276921
|
|
NM_001303256.3(MORC2):c.318G>A (p.Ser106=)
|
|
|
NM_001303256.3(MORC2):c.325A>G (p.Met109Val)
|
|
|
NM_001303256.3(MORC2):c.326T>C (p.Met109Thr)
|
|
|
NM_001303256.3(MORC2):c.335G>A (p.Gly112Glu)
|
|
|
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)
|
rs2040817042
|
|
NM_001303256.3(MORC2):c.354C>T (p.Phe118=)
|
rs772064769
|
|
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala)
|
rs748216749
|
|
NM_001303256.3(MORC2):c.35C>G (p.Ala12Gly)
|
|
|
NM_001303256.3(MORC2):c.361A>G (p.Lys121Glu)
|
rs2040816732
|
|
NM_001303256.3(MORC2):c.366A>G (p.Glu122=)
|
rs2147276762
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
|
rs1602496057
|
|
NM_001303256.3(MORC2):c.398C>T (p.Thr133Met)
|
|
|
NM_001303256.3(MORC2):c.419T>C (p.Ile140Thr)
|
|
|
NM_001303256.3(MORC2):c.426+16G>A
|
|
|
NM_001303256.3(MORC2):c.426+8C>A
|
rs2040815046
|
|
NM_001303256.3(MORC2):c.427-3C>T
|
|
|
NM_001303256.3(MORC2):c.439C>G (p.Leu147Val)
|
|
|
NM_001303256.3(MORC2):c.441G>A (p.Leu147=)
|
|
|
NM_001303256.3(MORC2):c.441G>C (p.Leu147=)
|
|
|
NM_001303256.3(MORC2):c.462C>A (p.Thr154=)
|
|
|
NM_001303256.3(MORC2):c.462C>T (p.Thr154=)
|
|
|
NM_001303256.3(MORC2):c.464G>A (p.Arg155Gln)
|
|
|
NM_001303256.3(MORC2):c.465G>A (p.Arg155=)
|
rs1235717724
|
|
NM_001303256.3(MORC2):c.480C>A (p.Asp160Glu)
|
|
|
NM_001303256.3(MORC2):c.498C>T (p.Ala166=)
|
|
|
NM_001303256.3(MORC2):c.518A>G (p.Tyr173Cys)
|
|
|
NM_001303256.3(MORC2):c.51A>G (p.Glu17=)
|
|
|
NM_001303256.3(MORC2):c.530C>T (p.Pro177Leu)
|
rs2147267049
|
|
NM_001303256.3(MORC2):c.539C>G (p.Thr180Ser)
|
rs1344522060
|
|
NM_001303256.3(MORC2):c.560A>T (p.Gln187Leu)
|
|
|
NM_001303256.3(MORC2):c.564T>G (p.Phe188Leu)
|
rs1569195312
|
|
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr)
|
rs1555940315
|
|
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)
|
rs751813402
|
|
NM_001303256.3(MORC2):c.587-3C>T
|
|
|
NM_001303256.3(MORC2):c.592T>C (p.Leu198=)
|
|
|
NM_001303256.3(MORC2):c.595G>A (p.Val199Met)
|
rs752850286
|
|
NM_001303256.3(MORC2):c.603C>T (p.Ile201=)
|
|
|
NM_001303256.3(MORC2):c.619A>G (p.Met207Val)
|
|
|
NM_001303256.3(MORC2):c.624T>C (p.Asp208=)
|
rs2040747878
|
|
NM_001303256.3(MORC2):c.627T>C (p.Asn209=)
|
rs369521098
|
|
NM_001303256.3(MORC2):c.633G>C (p.Glu211Asp)
|
rs1049739010
|
|
NM_001303256.3(MORC2):c.642A>G (p.Leu214=)
|
rs2147266472
|
|
NM_001303256.3(MORC2):c.658C>T (p.Pro220Ser)
|
|
|
NM_001303256.3(MORC2):c.671A>G (p.Gln224Arg)
|
|
|
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
|
rs893153652
|
|
NM_001303256.3(MORC2):c.68+16G>C
|
|
|
NM_001303256.3(MORC2):c.68+19C>T
|
rs1272140890
|
|
NM_001303256.3(MORC2):c.68+4A>C
|
|
|
NM_001303256.3(MORC2):c.69-14A>G
|
rs2147308787
|
|
NM_001303256.3(MORC2):c.69-15dup
|
|
|
NM_001303256.3(MORC2):c.69-18T>C
|
rs2041001396
|
|
NM_001303256.3(MORC2):c.69-19T>G
|
|
|
NM_001303256.3(MORC2):c.69-9T>A
|
|
|
NM_001303256.3(MORC2):c.698+10G>T
|
|
|
NM_001303256.3(MORC2):c.698+20G>T
|
rs771379191
|
|
NM_001303256.3(MORC2):c.698+8T>C
|
|
|
NM_001303256.3(MORC2):c.699-10C>A
|
rs2040742510
|
|
NM_001303256.3(MORC2):c.700A>G (p.Lys234Glu)
|
rs199928683
|
|
NM_001303256.3(MORC2):c.704del (p.Pro235fs)
|
rs2040742194
|
|
NM_001303256.3(MORC2):c.706G>C (p.Glu236Gln)
|
|
|
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)
|
rs886037934
|
|
NM_001303256.3(MORC2):c.712C>A (p.Arg238Ser)
|
rs371713427
|
|
NM_001303256.3(MORC2):c.713G>A (p.Arg238His)
|
rs367766290
|
|
NM_001303256.3(MORC2):c.713G>T (p.Arg238Leu)
|
rs367766290
|
|
NM_001303256.3(MORC2):c.721C>T (p.Arg241Cys)
|
|
|
NM_001303256.3(MORC2):c.722G>A (p.Arg241His)
|
|
|
NM_001303256.3(MORC2):c.728A>G (p.Tyr243Cys)
|
|
|
NM_001303256.3(MORC2):c.733G>A (p.Ala245Thr)
|
|
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503
|
|
NM_001303256.3(MORC2):c.760A>C (p.Arg254=)
|
rs568744235
|
|
NM_001303256.3(MORC2):c.765C>T (p.Ile255=)
|
|
|
NM_001303256.3(MORC2):c.798G>C (p.Arg266Ser)
|
rs1064796495
|
|
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
|
rs1064796495
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg)
|
rs1555939986
|
|
NM_001303256.3(MORC2):c.802T>C (p.Ser268Pro)
|
rs2040740411
|
|
NM_001303256.3(MORC2):c.804C>A (p.Ser268=)
|
rs1317196061
|
|
NM_001303256.3(MORC2):c.813G>T (p.Leu271=)
|
|
|
NM_001303256.3(MORC2):c.825-7T>C
|
rs2147263953
|
|
NM_001303256.3(MORC2):c.825-8C>T
|
|
|
NM_001303256.3(MORC2):c.834G>A (p.Lys278=)
|
rs2147263929
|
|
NM_001303256.3(MORC2):c.891C>T (p.His297=)
|
rs1602489695
|
|
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu)
|
rs772766261
|
|
NM_001303256.3(MORC2):c.898A>C (p.Arg300=)
|
rs2147263715
|
|
NM_001303256.3(MORC2):c.904+15G>A
|
|
|
NM_001303256.3(MORC2):c.904+19C>T
|
|
|
NM_001303256.3(MORC2):c.904+7C>G
|
rs2040731723
|
|
NM_001303256.3(MORC2):c.905-40_905-19del
|
|
|
NM_001303256.3(MORC2):c.916G>A (p.Ala306Thr)
|
rs1320772373
|
|
NM_001303256.3(MORC2):c.931A>G (p.Ser311Gly)
|
rs1368116984
|
|
NM_001303256.3(MORC2):c.955C>T (p.Arg319Cys)
|
|
|
NM_001303256.3(MORC2):c.95_96delinsGT (p.Ala32Gly)
|
|
|
NM_001303256.3(MORC2):c.969C>T (p.Asp323=)
|
|
|
NM_001303256.3(MORC2):c.981C>T (p.Asp327=)
|
|
|
NM_001303256.3(MORC2):c.987+10del
|
rs1569193635
|
|
NM_001303256.3(MORC2):c.987+11G>A
|
|
|
NM_001303256.3(MORC2):c.987+17G>A
|
|
|
NM_001303256.3(MORC2):c.987+19C>A
|
|
|
NM_001303256.3(MORC2):c.987+19C>T
|
rs769036771
|
|
NM_001303256.3(MORC2):c.987+4A>C
|
|
|
NM_001303256.3(MORC2):c.988-19C>T
|
|
|
NM_001303256.3(MORC2):c.988-2del
|
rs2147260886
|
|
NM_001303256.3(MORC2):c.988-5T>G
|
|
|
NM_001303256.3(MORC2):c.988-6G>A
|
|
|
NM_001303256.3(MORC2):c.988G>A (p.Val330Met)
|
rs1390155636
|
|
NM_001303256.3(MORC2):c.988G>T (p.Val330Leu)
|
|
|
NM_001303256.3(MORC2):c.991A>G (p.Met331Val)
|
|
|
NM_001365951.3(KIF1B):c.*1_*4dup (p.Ter1817=)
|
rs2102365849
|
|
NM_001365951.3(KIF1B):c.1008C>T (p.Ile336=)
|
|
|
NM_001365951.3(KIF1B):c.1037+11T>C
|
|
|
NM_001365951.3(KIF1B):c.1037+16C>G
|
|
|
NM_001365951.3(KIF1B):c.1037+4C>T
|
rs2102222404
|
|
NM_001365951.3(KIF1B):c.1037+7dup
|
|
|
NM_001365951.3(KIF1B):c.1038-15dup
|
rs765965212
|
|
NM_001365951.3(KIF1B):c.1038-18T>C
|
|
|
NM_001365951.3(KIF1B):c.1038-20A>C
|
|
|
NM_001365951.3(KIF1B):c.1038A>G (p.Arg346=)
|
|
|
NM_001365951.3(KIF1B):c.1044A>G (p.Ala348=)
|
rs2102225536
|
|
NM_001365951.3(KIF1B):c.1048C>T (p.Arg350Cys)
|
rs1649205873
|
|
NM_001365951.3(KIF1B):c.1049G>A (p.Arg350His)
|
|
|
NM_001365951.3(KIF1B):c.1051G>T (p.Ala351Ser)
|
|
|
NM_001365951.3(KIF1B):c.1055A>C (p.Lys352Thr)
|
|
|
NM_001365951.3(KIF1B):c.106+19C>T
|
|
|
NM_001365951.3(KIF1B):c.1064A>C (p.Lys355Thr)
|
|
|
NM_001365951.3(KIF1B):c.1065A>G (p.Lys355=)
|
|
|
NM_001365951.3(KIF1B):c.107-15A>G
|
|
|
NM_001365951.3(KIF1B):c.107-16C>T
|
|
|
NM_001365951.3(KIF1B):c.107-19A>C
|
|
|
NM_001365951.3(KIF1B):c.107-4C>T
|
|
|
NM_001365951.3(KIF1B):c.1075G>C (p.Val359Leu)
|
|
|
NM_001365951.3(KIF1B):c.1075G>T (p.Val359Phe)
|
rs1437891155
|
|
NM_001365951.3(KIF1B):c.107G>A (p.Ser36Asn)
|
|
|
NM_001365951.3(KIF1B):c.1082A>G (p.Asn361Ser)
|
|
|
NM_001365951.3(KIF1B):c.1109G>A (p.Arg370His)
|
rs764203468
|
|
NM_001365951.3(KIF1B):c.1130C>T (p.Thr377Ile)
|
rs1372224953
|
|
NM_001365951.3(KIF1B):c.1132C>T (p.Arg378Trp)
|
|
|
NM_001365951.3(KIF1B):c.1145T>G (p.Leu382Arg)
|
|
|
NM_001365951.3(KIF1B):c.1152T>C (p.Arg384=)
|
rs2102225734
|
|
NM_001365951.3(KIF1B):c.1173T>C (p.Ile391=)
|
rs1649213355
|
|
NM_001365951.3(KIF1B):c.1179T>C (p.Asp393=)
|
rs1060501914
|
|
NM_001365951.3(KIF1B):c.117C>T (p.Asn39=)
|
rs2102181683
|
|
NM_001365951.3(KIF1B):c.1281C>A (p.Arg427=)
|
|
|
NM_001365951.3(KIF1B):c.1283C>G (p.Pro428Arg)
|
|
|
NM_001365951.3(KIF1B):c.1283C>T (p.Pro428Leu)
|
|
|
NM_001365951.3(KIF1B):c.1288C>T (p.His430Tyr)
|
|
|
NM_001365951.3(KIF1B):c.1298C>G (p.Thr433Arg)
|
|
|
NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr)
|
|
|
NM_001365951.3(KIF1B):c.1304C>T (p.Ser435Phe)
|
|
|
NM_001365951.3(KIF1B):c.1305C>T (p.Ser435=)
|
rs1649454373
|
|
NM_001365951.3(KIF1B):c.1308G>T (p.Met436Ile)
|
|
|
NM_001365951.3(KIF1B):c.1319C>G (p.Thr440Ser)
|
rs1649455397
|
|
NM_001365951.3(KIF1B):c.1323A>T (p.Ser441=)
|
rs2102232709
|
|
NM_001365951.3(KIF1B):c.1328C>T (p.Pro443Leu)
|
|
|
NM_001365951.3(KIF1B):c.1329A>G (p.Pro443=)
|
|
|
NM_001365951.3(KIF1B):c.1345A>G (p.Ser449Gly)
|
|
|
NM_001365951.3(KIF1B):c.1346G>T (p.Ser449Ile)
|
|
|
NM_001365951.3(KIF1B):c.1354G>A (p.Val452Met)
|
|
|
NM_001365951.3(KIF1B):c.135A>C (p.Glu45Asp)
|
|
|
NM_001365951.3(KIF1B):c.1362G>C (p.Leu454Phe)
|
rs2102232805
|
|
NM_001365951.3(KIF1B):c.1364C>A (p.Thr455Lys)
|
|
|
NM_001365951.3(KIF1B):c.1369G>A (p.Val457Met)
|
rs1649459479
|
|
NM_001365951.3(KIF1B):c.137C>T (p.Ala46Val)
|
rs770626277
|
|
NM_001365951.3(KIF1B):c.1383A>G (p.Gln461=)
|
rs1649460480
|
|
NM_001365951.3(KIF1B):c.1415A>G (p.Glu472Gly)
|
|
|
NM_001365951.3(KIF1B):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001365951.3(KIF1B):c.1427G>A (p.Arg476His)
|
|
|
NM_001365951.3(KIF1B):c.1434+5del
|
rs1569695564
|
|
NM_001365951.3(KIF1B):c.1434+9T>G
|
rs770024434
|
|
NM_001365951.3(KIF1B):c.1435-11T>G
|
rs375781577
|
|
NM_001365951.3(KIF1B):c.1435-14G>A
|
|
|
NM_001365951.3(KIF1B):c.1435-6C>T
|
|
|
NM_001365951.3(KIF1B):c.1450A>T (p.Ile484Phe)
|
rs2102247580
|
|
NM_001365951.3(KIF1B):c.1486C>T (p.Arg496Cys)
|
|
|
NM_001365951.3(KIF1B):c.1487G>A (p.Arg496His)
|
rs1418377932
|
|
NM_001365951.3(KIF1B):c.1507A>G (p.Met503Val)
|
rs1060501913
|
|
NM_001365951.3(KIF1B):c.1508T>C (p.Met503Thr)
|
|
|
NM_001365951.3(KIF1B):c.1514+13A>T
|
|
|
NM_001365951.3(KIF1B):c.1514+17C>T
|
|
|
NM_001365951.3(KIF1B):c.1514+6G>A
|
|
|
NM_001365951.3(KIF1B):c.1515-18T>G
|
rs375149695
|
|
NM_001365951.3(KIF1B):c.1515A>G (p.Arg505=)
|
|
|
NM_001365951.3(KIF1B):c.1524G>A (p.Leu508=)
|
|
|
NM_001365951.3(KIF1B):c.1533G>A (p.Glu511=)
|
|
|
NM_001365951.3(KIF1B):c.153C>G (p.Ser51Arg)
|
|
|
NM_001365951.3(KIF1B):c.1549C>T (p.Arg517Trp)
|
|
|
NM_001365951.3(KIF1B):c.1550G>A (p.Arg517Gln)
|
|
|
NM_001365951.3(KIF1B):c.1554A>G (p.Glu518=)
|
rs2102249352
|
|
NM_001365951.3(KIF1B):c.1563A>G (p.Gly521=)
|
rs2102249374
|
|
NM_001365951.3(KIF1B):c.157G>A (p.Asp53Asn)
|
|
|
NM_001365951.3(KIF1B):c.1589A>G (p.Lys530Arg)
|
|
|
NM_001365951.3(KIF1B):c.1590+10_1590+11del
|
|
|
NM_001365951.3(KIF1B):c.1590+4G>C
|
rs2102249437
|
|
NM_001365951.3(KIF1B):c.1590+5G>A
|
|
|
NM_001365951.3(KIF1B):c.1590+6A>G
|
|
|
NM_001365951.3(KIF1B):c.1590+8A>G
|
rs1168139281
|
|
NM_001365951.3(KIF1B):c.1590+9C>T
|
|
|
NM_001365951.3(KIF1B):c.1591-11A>G
|
|
|
NM_001365951.3(KIF1B):c.1608C>T (p.Asn536=)
|
rs2102255177
|
|
NM_001365951.3(KIF1B):c.1612A>G (p.Asn538Asp)
|
rs1569742672
|
|
NM_001365951.3(KIF1B):c.161A>G (p.Tyr54Cys)
|
|
|
NM_001365951.3(KIF1B):c.1620C>T (p.Asp540=)
|
|
|
NM_001365951.3(KIF1B):c.1624C>T (p.Leu542=)
|
|
|
NM_001365951.3(KIF1B):c.1668A>G (p.Thr556=)
|
|
|
NM_001365951.3(KIF1B):c.1670+15T>C
|
|
|
NM_001365951.3(KIF1B):c.1670+20T>C
|
|
|
NM_001365951.3(KIF1B):c.1671-14T>C
|
|
|
NM_001365951.3(KIF1B):c.1671-3C>A
|
|
|
NM_001365951.3(KIF1B):c.1671-3C>G
|
rs1302986414
|
|
NM_001365951.3(KIF1B):c.1671-6G>A
|
rs1420466491
|
|
NM_001365951.3(KIF1B):c.1671G>T (p.Arg557Ser)
|
|
|
NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=)
|
rs530566864
|
|
NM_001365951.3(KIF1B):c.1694G>A (p.Arg565Gln)
|
|
|
NM_001365951.3(KIF1B):c.1697G>T (p.Arg566Leu)
|
rs751881065
|
|
NM_001365951.3(KIF1B):c.1717G>A (p.Gly573Arg)
|
|
|
NM_001365951.3(KIF1B):c.1719G>T (p.Gly573=)
|
|
|
NM_001365951.3(KIF1B):c.1720G>A (p.Ala574Thr)
|
|
|
NM_001365951.3(KIF1B):c.1720G>C (p.Ala574Pro)
|
rs749223318
|
|
NM_001365951.3(KIF1B):c.1731A>G (p.Lys577=)
|
|
|
NM_001365951.3(KIF1B):c.1751G>A (p.Arg584Gln)
|
|
|
NM_001365951.3(KIF1B):c.1768A>G (p.Ser590Gly)
|
|
|
NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg)
|
rs139764209
|
|
NM_001365951.3(KIF1B):c.1772G>T (p.Gly591Val)
|
|
|
NM_001365951.3(KIF1B):c.1777+11C>G
|
|
|
NM_001365951.3(KIF1B):c.1777+14G>A
|
rs750048938
|
|
NM_001365951.3(KIF1B):c.1777+1G>T
|
|
|
NM_001365951.3(KIF1B):c.1777+5G>C
|
|
|
NM_001365951.3(KIF1B):c.1777+7A>G
|
|
|
NM_001365951.3(KIF1B):c.1777+7A>T
|
rs367898139
|
|
NM_001365951.3(KIF1B):c.1778-11G>T
|
|
|
NM_001365951.3(KIF1B):c.1778-14T>C
|
rs2102258072
|
|
NM_001365951.3(KIF1B):c.1778-17G>A
|
|
|
NM_001365951.3(KIF1B):c.1778-17G>T
|
|
|
NM_001365951.3(KIF1B):c.1778-8C>T
|
|
|
NM_001365951.3(KIF1B):c.1778T>A (p.Val593Asp)
|
rs1462866416
|
|
NM_001365951.3(KIF1B):c.1780A>G (p.Ile594Val)
|
rs1650274413
|
|
NM_001365951.3(KIF1B):c.1783G>A (p.Val595Met)
|
|
|
NM_001365951.3(KIF1B):c.1786A>G (p.Thr596Ala)
|
|
|
NM_001365951.3(KIF1B):c.1787C>T (p.Thr596Ile)
|
|
|
NM_001365951.3(KIF1B):c.1801G>C (p.Glu601Gln)
|
|
|
NM_001365951.3(KIF1B):c.1802A>G (p.Glu601Gly)
|
rs2102258159
|
|
NM_001365951.3(KIF1B):c.1805G>A (p.Arg602His)
|
|
|
NM_001365951.3(KIF1B):c.180C>T (p.Thr60=)
|
rs1051505837
|
|
NM_001365951.3(KIF1B):c.1819G>A (p.Val607Ile)
|
|
|
NM_001365951.3(KIF1B):c.183+12C>G
|
|
|
NM_001365951.3(KIF1B):c.183+13A>C
|
|
|
NM_001365951.3(KIF1B):c.183+13A>G
|
rs1647779753
|
|
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
|
rs756935623
|
|
NM_001365951.3(KIF1B):c.184-11A>T
|
|
|
NM_001365951.3(KIF1B):c.184-18T>A
|
rs2102186523
|
|
NM_001365951.3(KIF1B):c.184-6T>G
|
|
|
NM_001365951.3(KIF1B):c.184-6_184-5del
|
rs138324955
|
|
NM_001365951.3(KIF1B):c.184-7T>C
|
|
|
NM_001365951.3(KIF1B):c.1840C>A (p.Gln614Lys)
|
|
|
NM_001365951.3(KIF1B):c.1844C>G (p.Pro615Arg)
|
|
|
NM_001365951.3(KIF1B):c.1856G>A (p.Arg619His)
|
|
|
NM_001365951.3(KIF1B):c.185C>G (p.Pro62Arg)
|
rs1262165101
|
|
NM_001365951.3(KIF1B):c.1861+12A>G
|
|
|
NM_001365951.3(KIF1B):c.1861+3G>A
|
|
|
NM_001365951.3(KIF1B):c.1862-1_1881dup
|
|
|
NM_001365951.3(KIF1B):c.1862-20A>G
|
rs751429277
|
|
NM_001365951.3(KIF1B):c.1862-7G>A
|
|
|
NM_001365951.3(KIF1B):c.1865A>C (p.Asn622Thr)
|
|
|
NM_001365951.3(KIF1B):c.1868G>A (p.Arg623His)
|
rs1650293838
|
|
NM_001365951.3(KIF1B):c.1876A>G (p.Met626Val)
|
rs1391371944
|
|
NM_001365951.3(KIF1B):c.1892T>C (p.Val631Ala)
|
|
|
NM_001365951.3(KIF1B):c.1899C>A (p.Arg633=)
|
|
|
NM_001365951.3(KIF1B):c.1899C>T (p.Arg633=)
|
rs1310291443
|
|
NM_001365951.3(KIF1B):c.1906C>G (p.His636Asp)
|
rs772578159
|
|
NM_001365951.3(KIF1B):c.1909C>G (p.Pro637Ala)
|
|
|
NM_001365951.3(KIF1B):c.1911G>T (p.Pro637=)
|
rs138876135
|
|
NM_001365951.3(KIF1B):c.1921C>T (p.Arg641Ter)
|
rs1650296802
|
|
NM_001365951.3(KIF1B):c.1925C>T (p.Ala642Val)
|
|
|
NM_001365951.3(KIF1B):c.1930C>A (p.Arg644=)
|
rs1195706897
|
|
NM_001365951.3(KIF1B):c.1934A>G (p.Glu645Gly)
|
|
|
NM_001365951.3(KIF1B):c.1940C>T (p.Thr647Ile)
|
rs1178666545
|
|
NM_001365951.3(KIF1B):c.1942C>T (p.Pro648Ser)
|
rs2102259084
|
|
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
|
rs766127664
|
|
NM_001365951.3(KIF1B):c.194C>A (p.Pro65His)
|
|
|
NM_001365951.3(KIF1B):c.1950T>C (p.Ala650=)
|
|
|
NM_001365951.3(KIF1B):c.1950T>G (p.Ala650=)
|
|
|
NM_001365951.3(KIF1B):c.1955C>A (p.Thr652Asn)
|
rs142881321
|
|
NM_001365951.3(KIF1B):c.1958C>G (p.Pro653Arg)
|
|
|
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)
|
rs1332046524
|
|
NM_001365951.3(KIF1B):c.1969G>A (p.Val657Met)
|
|
|
NM_001365951.3(KIF1B):c.1995G>A (p.Glu665=)
|
rs2102259202
|
|
NM_001365951.3(KIF1B):c.2042+15C>T
|
|
|
NM_001365951.3(KIF1B):c.2042+16G>C
|
rs1427727123
|
|
NM_001365951.3(KIF1B):c.2042+19G>A
|
|
|
NM_001365951.3(KIF1B):c.2043-4C>T
|
rs771419523
|
|
NM_001365951.3(KIF1B):c.2069A>G (p.Lys690Arg)
|
rs2102259539
|
|
NM_001365951.3(KIF1B):c.2115+10C>G
|
|
|
NM_001365951.3(KIF1B):c.2116-18T>G
|
|
|
NM_001365951.3(KIF1B):c.2126G>A (p.Ser709Asn)
|
|
|
NM_001365951.3(KIF1B):c.2139C>T (p.Ala713=)
|
rs2102294111
|
|
NM_001365951.3(KIF1B):c.213C>T (p.Asn71=)
|
rs765503412
|
|
NM_001365951.3(KIF1B):c.2159C>G (p.Thr720Ser)
|
|
|
NM_001365951.3(KIF1B):c.2162G>A (p.Arg721Gln)
|
|
|
NM_001365951.3(KIF1B):c.2170G>T (p.Ala724Ser)
|
|
|
NM_001365951.3(KIF1B):c.2176G>A (p.Glu726Lys)
|
|
|
NM_001365951.3(KIF1B):c.2190GGA[1] (p.Glu736del)
|
rs770689187
|
|
NM_001365951.3(KIF1B):c.2192AGGAAGAAG[1] (p.Glu734_Glu736del)
|
rs1187447780
|
|
NM_001365951.3(KIF1B):c.2209+13G>T
|
|
|
NM_001365951.3(KIF1B):c.2209+16C>T
|
|
|
NM_001365951.3(KIF1B):c.2209+9T>G
|
rs2102294191
|
|
NM_001365951.3(KIF1B):c.2210-11C>A
|
|
|
NM_001365951.3(KIF1B):c.2210-16T>A
|
|
|
NM_001365951.3(KIF1B):c.2226T>C (p.His742=)
|
|
|
NM_001365951.3(KIF1B):c.2244A>G (p.Gln748=)
|
|
|
NM_001365951.3(KIF1B):c.2255G>A (p.Arg752Gln)
|
|
|
NM_001365951.3(KIF1B):c.2259A>G (p.Lys753=)
|
|
|
NM_001365951.3(KIF1B):c.2265G>C (p.Lys755Asn)
|
|
|
NM_001365951.3(KIF1B):c.2269C>T (p.His757Tyr)
|
|
|
NM_001365951.3(KIF1B):c.2273A>G (p.Gln758Arg)
|
|
|
NM_001365951.3(KIF1B):c.2281T>G (p.Ser761Ala)
|
rs1651532692
|
|
NM_001365951.3(KIF1B):c.2296C>T (p.Leu766Phe)
|
|
|
NM_001365951.3(KIF1B):c.229A>G (p.Ile77Val)
|
|
|
NM_001365951.3(KIF1B):c.2303G>A (p.Gly768Asp)
|
rs2102296302
|
|
NM_001365951.3(KIF1B):c.2310C>A (p.Ala770=)
|
|
|
NM_001365951.3(KIF1B):c.2311G>A (p.Val771Met)
|
|
|
NM_001365951.3(KIF1B):c.2343G>A (p.Val781=)
|
|
|
NM_001365951.3(KIF1B):c.2358+12G>A
|
rs1356013143
|
|
NM_001365951.3(KIF1B):c.2358+1G>A
|
rs1651536655
|
|
NM_001365951.3(KIF1B):c.2358+9C>T
|
rs1651536955
|
|
NM_001365951.3(KIF1B):c.2358G>C (p.Lys786Asn)
|
|
|
NM_001365951.3(KIF1B):c.2359-11T>C
|
|
|
NM_001365951.3(KIF1B):c.2359-12C>A
|
|
|
NM_001365951.3(KIF1B):c.2359G>A (p.Val787Met)
|
|
|
NM_001365951.3(KIF1B):c.2363A>G (p.Gln788Arg)
|
|
|
NM_001365951.3(KIF1B):c.2368C>G (p.Gln790Glu)
|
|
|
NM_001365951.3(KIF1B):c.236A>G (p.Lys79Arg)
|
rs1647931694
|
|
NM_001365951.3(KIF1B):c.2384C>G (p.Thr795Ser)
|
rs2102298851
|
|
NM_001365951.3(KIF1B):c.2390C>T (p.Thr797Ile)
|
rs767564247
|
|
NM_001365951.3(KIF1B):c.2391A>G (p.Thr797=)
|
rs1651619021
|
|
NM_001365951.3(KIF1B):c.2392C>G (p.Leu798Val)
|
|
|
NM_001365951.3(KIF1B):c.2393T>C (p.Leu798Pro)
|
rs1651619133
|
|
NM_001365951.3(KIF1B):c.2399C>A (p.Ser800Tyr)
|
rs1651619501
|
|
NM_001365951.3(KIF1B):c.2399C>T (p.Ser800Phe)
|
|
|
NM_001365951.3(KIF1B):c.23T>C (p.Val8Ala)
|
|
|
NM_001365951.3(KIF1B):c.2422C>T (p.Pro808Ser)
|
|
|
NM_001365951.3(KIF1B):c.2437A>G (p.Lys813Glu)
|
|
|
NM_001365951.3(KIF1B):c.2444A>G (p.His815Arg)
|
|
|
NM_001365951.3(KIF1B):c.2464C>T (p.Arg822Cys)
|
|
|
NM_001365951.3(KIF1B):c.2466C>T (p.Arg822=)
|
rs753982918
|
|
NM_001365951.3(KIF1B):c.2472G>A (p.Val824=)
|
rs2102299017
|
|
NM_001365951.3(KIF1B):c.2479G>A (p.Val827Ile)
|
|
|
NM_001365951.3(KIF1B):c.2495T>G (p.Leu832Trp)
|
|
|
NM_001365951.3(KIF1B):c.2504G>A (p.Gly835Glu)
|
rs2102299042
|
|
NM_001365951.3(KIF1B):c.2538-3T>C
|
|
|
NM_001365951.3(KIF1B):c.2538-9A>G
|
|
|
NM_001365951.3(KIF1B):c.2562G>A (p.Glu854=)
|
|
|
NM_001365951.3(KIF1B):c.2563A>T (p.Met855Leu)
|
rs781647232
|
|
NM_001365951.3(KIF1B):c.2564T>A (p.Met855Lys)
|
|
|
NM_001365951.3(KIF1B):c.2564T>C (p.Met855Thr)
|
|
|
NM_001365951.3(KIF1B):c.2581G>A (p.Glu861Lys)
|
|
|
NM_001365951.3(KIF1B):c.2584A>C (p.Met862Leu)
|
|
|
NM_001365951.3(KIF1B):c.2584A>G (p.Met862Val)
|
rs1345626148
|
|
NM_001365951.3(KIF1B):c.2588C>T (p.Ala863Val)
|
|
|
NM_001365951.3(KIF1B):c.2590T>A (p.Ser864Thr)
|
|
|
NM_001365951.3(KIF1B):c.2594G>A (p.Ser865Asn)
|
|
|
NM_001365951.3(KIF1B):c.2595T>C (p.Ser865=)
|
|
|
NM_001365951.3(KIF1B):c.2609G>A (p.Ser870Asn)
|
rs1553167616
|
|
NM_001365951.3(KIF1B):c.2613A>C (p.Glu871Asp)
|
|
|
NM_001365951.3(KIF1B):c.2615C>G (p.Thr872Ser)
|
|
|
NM_001365951.3(KIF1B):c.2617A>C (p.Thr873Pro)
|
|
|
NM_001365951.3(KIF1B):c.2619T>A (p.Thr873=)
|
|
|
NM_001365951.3(KIF1B):c.2620G>A (p.Val874Met)
|
|
|
NM_001365951.3(KIF1B):c.2622G>A (p.Val874=)
|
|
|
NM_001365951.3(KIF1B):c.2624C>A (p.Thr875Asn)
|
|
|
NM_001365951.3(KIF1B):c.2626G>A (p.Gly876Ser)
|
|
|
NM_001365951.3(KIF1B):c.2631C>T (p.Ser877=)
|
|
|
NM_001365951.3(KIF1B):c.2636C>T (p.Pro879Leu)
|
|
|
NM_001365951.3(KIF1B):c.2647C>A (p.Arg883=)
|
rs2102300290
|
|
NM_001365951.3(KIF1B):c.2647C>T (p.Arg883Trp)
|
|
|
NM_001365951.3(KIF1B):c.2653C>A (p.His885Asn)
|
rs1483652105
|
|
NM_001365951.3(KIF1B):c.2664A>G (p.Lys888=)
|
rs2102300309
|
|
NM_001365951.3(KIF1B):c.2672G>A (p.Gly891Glu)
|
|
|
NM_001365951.3(KIF1B):c.2675+18T>C
|
|
|
NM_001365951.3(KIF1B):c.2676-19C>T
|
|
|
NM_001365951.3(KIF1B):c.2676-3T>C
|
|
|
NM_001365951.3(KIF1B):c.2676-6_2676-5del
|
rs2102301578
|
|
NM_001365951.3(KIF1B):c.2678C>T (p.Ser893Phe)
|
|
|
NM_001365951.3(KIF1B):c.2692G>A (p.Gly898Ser)
|
|
|
NM_001365951.3(KIF1B):c.2696G>A (p.Cys899Tyr)
|
|
|
NM_001365951.3(KIF1B):c.2707C>G (p.Arg903Gly)
|
rs868254486
|
|
NM_001365951.3(KIF1B):c.2708G>C (p.Arg903Pro)
|
rs778403355
|
|
NM_001365951.3(KIF1B):c.2716G>A (p.Asp906Asn)
|
rs758389718
|
|
NM_001365951.3(KIF1B):c.2716G>T (p.Asp906Tyr)
|
|
|
NM_001365951.3(KIF1B):c.2720G>A (p.Arg907His)
|
rs1651714039
|
|
NM_001365951.3(KIF1B):c.2733C>T (p.Pro911=)
|
rs746863711
|
|
NM_001365951.3(KIF1B):c.2753C>T (p.Ser918Phe)
|
|
|
NM_001365951.3(KIF1B):c.2754C>T (p.Ser918=)
|
|
|
NM_001365951.3(KIF1B):c.2760C>T (p.Ile920=)
|
|
|
NM_001365951.3(KIF1B):c.2776G>A (p.Glu926Lys)
|
|
|
NM_001365951.3(KIF1B):c.2786A>T (p.Asp929Val)
|
rs2102301786
|
|
NM_001365951.3(KIF1B):c.2796G>A (p.Glu932=)
|
|
|
NM_001365951.3(KIF1B):c.2817C>T (p.Phe939=)
|
|
|
NM_001365951.3(KIF1B):c.2820G>A (p.Val940=)
|
rs2102301840
|
|
NM_001365951.3(KIF1B):c.2826C>T (p.Asp942=)
|
|
|
NM_001365951.3(KIF1B):c.2837A>G (p.Asp946Gly)
|
rs2102301877
|
|
NM_001365951.3(KIF1B):c.2847G>A (p.Thr949=)
|
|
|
NM_001365951.3(KIF1B):c.2850G>A (p.Glu950=)
|
|
|
NM_001365951.3(KIF1B):c.2854G>C (p.Gly952Arg)
|
|
|
NM_001365951.3(KIF1B):c.285C>A (p.Ala95=)
|
rs12402052
|
|
NM_001365951.3(KIF1B):c.285C>T (p.Ala95=)
|
|
|
NM_001365951.3(KIF1B):c.2863C>T (p.Leu955Phe)
|
|
|
NM_001365951.3(KIF1B):c.2869A>G (p.Ser957Gly)
|
rs556117169
|
|
NM_001365951.3(KIF1B):c.2875_2883del (p.Gly959_Asp961del)
|
rs1651722145
|
|
NM_001365951.3(KIF1B):c.2876G>T (p.Gly959Val)
|
|
|
NM_001365951.3(KIF1B):c.2885C>T (p.Pro962Leu)
|
rs762619916
|
|
NM_001365951.3(KIF1B):c.2899T>A (p.Ser967Thr)
|
|
|
NM_001365951.3(KIF1B):c.2905T>C (p.Trp969Arg)
|
rs1569831309
|
|
NM_001365951.3(KIF1B):c.2918T>G (p.Val973Gly)
|
|
|
NM_001365951.3(KIF1B):c.291G>A (p.Gly97=)
|
|
|
NM_001365951.3(KIF1B):c.2924+16G>C
|
|
|
NM_001365951.3(KIF1B):c.2924+18G>A
|
|
|
NM_001365951.3(KIF1B):c.2924+18G>T
|
|
|
NM_001365951.3(KIF1B):c.2924+5G>A
|
|
|
NM_001365951.3(KIF1B):c.2925-13T>C
|
|
|
NM_001365951.3(KIF1B):c.2925-3del
|
rs756643992
|
|
NM_001365951.3(KIF1B):c.2940G>A (p.Leu980=)
|
|
|
NM_001365951.3(KIF1B):c.2951T>C (p.Leu984Pro)
|
|
|
NM_001365951.3(KIF1B):c.2956C>T (p.Pro986Ser)
|
|
|
NM_001365951.3(KIF1B):c.2965_2966del (p.Leu989fs)
|
|
|
NM_001365951.3(KIF1B):c.2971del (p.His991fs)
|
rs761398418
|
|
NM_001365951.3(KIF1B):c.2974A>C (p.Arg992=)
|
rs750405644
|
|
NM_001365951.3(KIF1B):c.2980G>T (p.Ala994Ser)
|
|
|
NM_001365951.3(KIF1B):c.3003A>G (p.Glu1001=)
|
rs1652092259
|
|
NM_001365951.3(KIF1B):c.3006G>A (p.Val1002=)
|
|
|
NM_001365951.3(KIF1B):c.3008G>A (p.Arg1003Gln)
|
|
|
NM_001365951.3(KIF1B):c.3009G>A (p.Arg1003=)
|
|
|
NM_001365951.3(KIF1B):c.3019C>T (p.Arg1007Cys)
|
|
|
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His)
|
rs145494902
|
|
NM_001365951.3(KIF1B):c.3020G>T (p.Arg1007Leu)
|
|
|
NM_001365951.3(KIF1B):c.3023T>C (p.Val1008Ala)
|
|
|
NM_001365951.3(KIF1B):c.3032A>G (p.Gln1011Arg)
|
|
|
NM_001365951.3(KIF1B):c.3034G>A (p.Ala1012Thr)
|
|
|
NM_001365951.3(KIF1B):c.3036C>A (p.Ala1012=)
|
|
|
NM_001365951.3(KIF1B):c.3040G>A (p.Ala1014Thr)
|
rs772779601
|
|
NM_001365951.3(KIF1B):c.3040G>T (p.Ala1014Ser)
|
|
|
NM_001365951.3(KIF1B):c.3043+13C>T
|
|
|
NM_001365951.3(KIF1B):c.3043+16C>T
|
|
|
NM_001365951.3(KIF1B):c.3043+3A>T
|
rs753646018
|
|
NM_001365951.3(KIF1B):c.3044-10del
|
rs758417740
|
|
NM_001365951.3(KIF1B):c.3044-10dup
|
|
|
NM_001365951.3(KIF1B):c.3044-15T>C
|
rs771795825
|
|
NM_001365951.3(KIF1B):c.3044-18T>A
|
|
|
NM_001365951.3(KIF1B):c.3044C>T (p.Ala1015Val)
|
|
|
NM_001365951.3(KIF1B):c.3046G>A (p.Asp1016Asn)
|
|
|
NM_001365951.3(KIF1B):c.3055G>A (p.Ala1019Thr)
|
|
|
NM_001365951.3(KIF1B):c.3061G>A (p.Asp1021Asn)
|
|
|
NM_001365951.3(KIF1B):c.3066T>C (p.Tyr1022=)
|
|
|
NM_001365951.3(KIF1B):c.3070T>C (p.Ser1024Pro)
|
|
|
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)
|
rs886042662
|
|
NM_001365951.3(KIF1B):c.3080G>A (p.Arg1027Gln)
|
rs2102315292
|
|
NM_001365951.3(KIF1B):c.3097A>G (p.Lys1033Glu)
|
rs1279714159
|
|
NM_001365951.3(KIF1B):c.3104C>A (p.Ser1035Tyr)
|
rs1652195142
|
|
NM_001365951.3(KIF1B):c.3112A>G (p.Asn1038Asp)
|
rs1342716199
|
|
NM_001365951.3(KIF1B):c.3125A>C (p.Asn1042Thr)
|
|
|
NM_001365951.3(KIF1B):c.3125A>G (p.Asn1042Ser)
|
rs201731199
|
|
NM_001365951.3(KIF1B):c.3129+10C>T
|
|
|
NM_001365951.3(KIF1B):c.3129+11G>A
|
|
|
NM_001365951.3(KIF1B):c.3129+16G>A
|
|
|
NM_001365951.3(KIF1B):c.3130-11C>T
|
rs1652206804
|
|
NM_001365951.3(KIF1B):c.3130-16C>T
|
|
|
NM_001365951.3(KIF1B):c.3130-18C>T
|
|
|
NM_001365951.3(KIF1B):c.3130-19G>A
|
rs2102315695
|
|
NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)
|
rs754121148
|
|
NM_001365951.3(KIF1B):c.3141G>T (p.Ser1047=)
|
rs754121148
|
|
NM_001365951.3(KIF1B):c.3153G>A (p.Met1051Ile)
|
rs368851581
|
|
NM_001365951.3(KIF1B):c.3155C>T (p.Thr1052Ile)
|
|
|
NM_001365951.3(KIF1B):c.3157C>G (p.Arg1053Gly)
|
|
|
NM_001365951.3(KIF1B):c.3158G>A (p.Arg1053His)
|
|
|
NM_001365951.3(KIF1B):c.3160T>C (p.Ser1054Pro)
|
|
|
NM_001365951.3(KIF1B):c.3161C>G (p.Ser1054Cys)
|
|
|
NM_001365951.3(KIF1B):c.3166C>T (p.Leu1056=)
|
|
|
NM_001365951.3(KIF1B):c.3170C>G (p.Ser1057Cys)
|
|
|
NM_001365951.3(KIF1B):c.3198A>T (p.Gly1066=)
|
rs372610670
|
|
NM_001365951.3(KIF1B):c.3201G>A (p.Gln1067=)
|
|
|
NM_001365951.3(KIF1B):c.3208A>G (p.Ser1070Gly)
|
|
|
NM_001365951.3(KIF1B):c.3227C>T (p.Pro1076Leu)
|
|
|
NM_001365951.3(KIF1B):c.3233A>C (p.Glu1078Ala)
|
|
|
NM_001365951.3(KIF1B):c.3245G>C (p.Arg1082Pro)
|
|
|
NM_001365951.3(KIF1B):c.3250A>C (p.Asn1084His)
|
|
|
NM_001365951.3(KIF1B):c.3259+14G>A
|
|
|
NM_001365951.3(KIF1B):c.3259+16T>A
|
|
|
NM_001365951.3(KIF1B):c.3259+20T>C
|
|
|
NM_001365951.3(KIF1B):c.3259+3A>G
|
|
|
NM_001365951.3(KIF1B):c.3259+6T>C
|
|
|
NM_001365951.3(KIF1B):c.3266A>T (p.Lys1089Met)
|
rs1652219026
|
|
NM_001365951.3(KIF1B):c.3284A>C (p.Asp1095Ala)
|
|
|
NM_001365951.3(KIF1B):c.3323_3324delinsCA (p.Gly1108Ala)
|
|
|
NM_001365951.3(KIF1B):c.3330C>T (p.His1110=)
|
|
|
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)
|
|
|
NM_001365951.3(KIF1B):c.3339G>T (p.Leu1113=)
|
rs2102316184
|
|
NM_001365951.3(KIF1B):c.333A>G (p.Gln111=)
|
rs2102186835
|
|
NM_001365951.3(KIF1B):c.3359G>A (p.Arg1120Gln)
|
|
|
NM_001365951.3(KIF1B):c.3360A>C (p.Arg1120=)
|
|
|
NM_001365951.3(KIF1B):c.3379A>G (p.Ser1127Gly)
|
|
|
NM_001365951.3(KIF1B):c.3380G>A (p.Ser1127Asn)
|
|
|
NM_001365951.3(KIF1B):c.3391C>T (p.Pro1131Ser)
|
rs1232790642
|
|
NM_001365951.3(KIF1B):c.3422+19C>T
|
|
|
NM_001365951.3(KIF1B):c.3423-6A>G
|
|
|
NM_001365951.3(KIF1B):c.3423-8T>C
|
|
|
NM_001365951.3(KIF1B):c.3431A>G (p.His1144Arg)
|
rs777585476
|
|
NM_001365951.3(KIF1B):c.3440A>T (p.Asp1147Val)
|
|
|
NM_001365951.3(KIF1B):c.3452C>T (p.Ser1151Phe)
|
|
|
NM_001365951.3(KIF1B):c.3455C>T (p.Thr1152Met)
|
rs775773486
|
|
NM_001365951.3(KIF1B):c.3456G>T (p.Thr1152=)
|
|
|
NM_001365951.3(KIF1B):c.3459G>T (p.Glu1153Asp)
|
|
|
NM_001365951.3(KIF1B):c.3462C>T (p.Pro1154=)
|
|
|
NM_001365951.3(KIF1B):c.3465C>T (p.Leu1155=)
|
|
|
NM_001365951.3(KIF1B):c.3470A>G (p.Asn1157Ser)
|
|
|
NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)
|
|
|
NM_001365951.3(KIF1B):c.3479G>A (p.Arg1160Lys)
|
|
|
NM_001365951.3(KIF1B):c.3484A>G (p.Ser1162Gly)
|
|
|
NM_001365951.3(KIF1B):c.348T>C (p.Ala116=)
|
|
|
NM_001365951.3(KIF1B):c.348T>G (p.Ala116=)
|
rs1647936228
|
|
NM_001365951.3(KIF1B):c.3495C>T (p.Ala1165=)
|
|
|
NM_001365951.3(KIF1B):c.3510G>T (p.Gln1170His)
|
|
|
NM_001365951.3(KIF1B):c.3513+10A>G
|
rs773664561
|
|
NM_001365951.3(KIF1B):c.3513+9C>T
|
|
|
NM_001365951.3(KIF1B):c.3514-11C>T
|
|
|
NM_001365951.3(KIF1B):c.3514-18A>G
|
|
|
NM_001365951.3(KIF1B):c.3514-7G>T
|
rs2102322317
|
|
NM_001365951.3(KIF1B):c.3516T>G (p.Ile1172Met)
|
|
|
NM_001365951.3(KIF1B):c.351C>T (p.Gly117=)
|
|
|
NM_001365951.3(KIF1B):c.3528C>T (p.Ile1176=)
|
|
|
NM_001365951.3(KIF1B):c.352A>G (p.Ile118Val)
|
|
|
NM_001365951.3(KIF1B):c.3540T>G (p.Phe1180Leu)
|
|
|
NM_001365951.3(KIF1B):c.3567T>C (p.Ile1189=)
|
|
|
NM_001365951.3(KIF1B):c.3576A>C (p.Glu1192Asp)
|
|
|
NM_001365951.3(KIF1B):c.3603A>G (p.Pro1201=)
|
rs2102322455
|
|
NM_001365951.3(KIF1B):c.3607C>A (p.His1203Asn)
|
|
|
NM_001365951.3(KIF1B):c.3610C>G (p.Leu1204Val)
|
|
|
NM_001365951.3(KIF1B):c.3620A>G (p.Gln1207Arg)
|
|
|
NM_001365951.3(KIF1B):c.3628A>G (p.Asn1210Asp)
|
|
|
NM_001365951.3(KIF1B):c.363+14C>G
|
|
|
NM_001365951.3(KIF1B):c.363+17A>T
|
|
|
NM_001365951.3(KIF1B):c.363+17_363+18dup
|
|
|
NM_001365951.3(KIF1B):c.3632+8C>G
|
rs966317106
|
|
NM_001365951.3(KIF1B):c.3633-14T>C
|
|
|
NM_001365951.3(KIF1B):c.3633-20T>G
|
|
|
NM_001365951.3(KIF1B):c.364-15A>C
|
|
|
NM_001365951.3(KIF1B):c.3644C>T (p.Pro1215Leu)
|
rs369255811
|
|
NM_001365951.3(KIF1B):c.3645G>C (p.Pro1215=)
|
rs147318592
|
|
NM_001365951.3(KIF1B):c.3649C>G (p.Arg1217Gly)
|
|
|
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His)
|
rs1652465916
|
|
NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)
|
rs868389032
|
|
NM_001365951.3(KIF1B):c.3655T>A (p.Phe1219Ile)
|
|
|
NM_001365951.3(KIF1B):c.3676C>T (p.Leu1226=)
|
|
|
NM_001365951.3(KIF1B):c.3681C>T (p.Ser1227=)
|
|
|
NM_001365951.3(KIF1B):c.3684G>A (p.Lys1228=)
|
rs2102323785
|
|
NM_001365951.3(KIF1B):c.3688+10C>G
|
rs755222148
|
|
NM_001365951.3(KIF1B):c.3688+16G>A
|
|
|
NM_001365951.3(KIF1B):c.3691C>T (p.Pro1231Ser)
|
|
|
NM_001365951.3(KIF1B):c.3703T>C (p.Leu1235=)
|
|
|
NM_001365951.3(KIF1B):c.3710C>T (p.Thr1237Met)
|
|
|
NM_001365951.3(KIF1B):c.3712A>G (p.Met1238Val)
|
|
|
NM_001365951.3(KIF1B):c.3713T>C (p.Met1238Thr)
|
|
|
NM_001365951.3(KIF1B):c.3723C>A (p.Thr1241=)
|
|
|
NM_001365951.3(KIF1B):c.3760G>A (p.Val1254Ile)
|
rs1490841470
|
|
NM_001365951.3(KIF1B):c.3764G>C (p.Trp1255Ser)
|
rs2102326792
|
|
NM_001365951.3(KIF1B):c.3776G>A (p.Ser1259Asn)
|
rs756530731
|
|
NM_001365951.3(KIF1B):c.3785A>G (p.Glu1262Gly)
|
|
|
NM_001365951.3(KIF1B):c.3798-12del
|
rs2102328760
|
|
NM_001365951.3(KIF1B):c.3798-15G>A
|
rs766283700
|
|
NM_001365951.3(KIF1B):c.3798-15G>C
|
|
|
NM_001365951.3(KIF1B):c.3798-18T>C
|
rs1652637104
|
|
NM_001365951.3(KIF1B):c.3798-3T>C
|
|
|
NM_001365951.3(KIF1B):c.3804C>T (p.Ile1268=)
|
|
|
NM_001365951.3(KIF1B):c.3812T>C (p.Val1271Ala)
|
rs756516917
|
|
NM_001365951.3(KIF1B):c.3815T>C (p.Val1272Ala)
|
|
|
NM_001365951.3(KIF1B):c.3825A>G (p.Thr1275=)
|
rs754717048
|
|
NM_001365951.3(KIF1B):c.3834G>T (p.Leu1278Phe)
|
|
|
NM_001365951.3(KIF1B):c.3846G>A (p.Gly1282=)
|
|
|
NM_001365951.3(KIF1B):c.3848C>A (p.Thr1283Lys)
|
|
|
NM_001365951.3(KIF1B):c.3861T>C (p.His1287=)
|
|
|
NM_001365951.3(KIF1B):c.3864+12G>T
|
|
|
NM_001365951.3(KIF1B):c.3864+16C>T
|
rs764351743
|
|
NM_001365951.3(KIF1B):c.3864+20del
|
|
|
NM_001365951.3(KIF1B):c.3865-18C>T
|
|
|
NM_001365951.3(KIF1B):c.3865-19A>G
|
|
|
NM_001365951.3(KIF1B):c.3865-20A>C
|
|
|
NM_001365951.3(KIF1B):c.3865-8T>C
|
|
|
NM_001365951.3(KIF1B):c.3882C>T (p.Ile1294=)
|
|
|
NM_001365951.3(KIF1B):c.3885A>G (p.Thr1295=)
|
|
|
NM_001365951.3(KIF1B):c.3886G>C (p.Val1296Leu)
|
|
|
NM_001365951.3(KIF1B):c.3890C>T (p.Thr1297Ile)
|
|
|
NM_001365951.3(KIF1B):c.3891C>T (p.Thr1297=)
|
|
|
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val)
|
rs529804940
|
|
NM_001365951.3(KIF1B):c.3893T>C (p.Ile1298Thr)
|
|
|
NM_001365951.3(KIF1B):c.3900T>C (p.His1300=)
|
|
|
NM_001365951.3(KIF1B):c.3912C>T (p.Ser1304=)
|
|
|
NM_001365951.3(KIF1B):c.3913G>A (p.Glu1305Lys)
|
|
|
NM_001365951.3(KIF1B):c.3916C>T (p.Leu1306Phe)
|
|
|
NM_001365951.3(KIF1B):c.3921T>C (p.His1307=)
|
|
|
NM_001365951.3(KIF1B):c.3927A>C (p.Lys1309Asn)
|
|
|
NM_001365951.3(KIF1B):c.3927A>G (p.Lys1309=)
|
rs773380588
|
|
NM_001365951.3(KIF1B):c.3949+18G>A
|
|
|
NM_001365951.3(KIF1B):c.3949+9_3949+10dup
|
|
|
NM_001365951.3(KIF1B):c.3950-14A>G
|
|
|
NM_001365951.3(KIF1B):c.3958C>T (p.Arg1320Trp)
|
|
|
NM_001365951.3(KIF1B):c.3968C>T (p.Pro1323Leu)
|
rs1279580508
|
|
NM_001365951.3(KIF1B):c.3977A>T (p.Asp1326Val)
|
rs879368394
|
|
NM_001365951.3(KIF1B):c.3987A>G (p.Ala1329=)
|
|
|
NM_001365951.3(KIF1B):c.399C>G (p.Asn133Lys)
|
rs996589396
|
|
NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)
|
|
|
NM_001365951.3(KIF1B):c.400T>C (p.Cys134Arg)
|
|
|
NM_001365951.3(KIF1B):c.4029C>T (p.Tyr1343=)
|
|
|
NM_001365951.3(KIF1B):c.4030C>T (p.Leu1344=)
|
rs1557731851
|
|
NM_001365951.3(KIF1B):c.4046A>C (p.Asn1349Thr)
|
rs1462863753
|
|
NM_001365951.3(KIF1B):c.4052G>C (p.Ser1351Thr)
|
|
|
NM_001365951.3(KIF1B):c.4055+12A>C
|
|
|
NM_001365951.3(KIF1B):c.4055+14A>G
|
|
|
NM_001365951.3(KIF1B):c.4056-11T>A
|
|
|
NM_001365951.3(KIF1B):c.4056-19C>A
|
rs753780102
|
|
NM_001365951.3(KIF1B):c.4056-6C>A
|
rs754886872
|
|
NM_001365951.3(KIF1B):c.4056-6C>G
|
|
|
NM_001365951.3(KIF1B):c.4060T>C (p.Phe1354Leu)
|
|
|
NM_001365951.3(KIF1B):c.4066C>T (p.Arg1356Cys)
|
rs1231187230
|
|
NM_001365951.3(KIF1B):c.4074G>A (p.Glu1358=)
|
rs1291020748
|
|
NM_001365951.3(KIF1B):c.4076C>T (p.Ala1359Val)
|
|
|
NM_001365951.3(KIF1B):c.4094T>C (p.Leu1365Pro)
|
|
|
NM_001365951.3(KIF1B):c.4106T>G (p.Leu1369Arg)
|
rs1339145498
|
|
NM_001365951.3(KIF1B):c.4110T>C (p.Leu1370=)
|
rs749776582
|
|
NM_001365951.3(KIF1B):c.4128C>T (p.Pro1376=)
|
rs148877444
|
|
NM_001365951.3(KIF1B):c.4139A>T (p.Lys1380Met)
|
|
|
NM_001365951.3(KIF1B):c.4140G>T (p.Lys1380Asn)
|
|
|
NM_001365951.3(KIF1B):c.4151C>T (p.Thr1384Ile)
|
|
|
NM_001365951.3(KIF1B):c.4152C>G (p.Thr1384=)
|
rs1638408043
|
|
NM_001365951.3(KIF1B):c.415T>G (p.Ser139Ala)
|
|
|
NM_001365951.3(KIF1B):c.4167A>C (p.Leu1389=)
|
|
|
NM_001365951.3(KIF1B):c.4167A>T (p.Leu1389=)
|
rs1638408619
|
|
NM_001365951.3(KIF1B):c.4170+17C>G
|
|
|
NM_001365951.3(KIF1B):c.4170+20del
|
|
|
NM_001365951.3(KIF1B):c.4173G>C (p.Leu1391=)
|
rs2102345529
|
|
NM_001365951.3(KIF1B):c.4186C>A (p.Gln1396Lys)
|
|
|
NM_001365951.3(KIF1B):c.4194T>A (p.Ala1398=)
|
rs765279950
|
|
NM_001365951.3(KIF1B):c.4196T>C (p.Val1399Ala)
|
rs147043919
|
|
NM_001365951.3(KIF1B):c.4210G>A (p.Val1404Met)
|
rs1557737152
|
|
NM_001365951.3(KIF1B):c.4216A>C (p.Met1406Leu)
|
|
|
NM_001365951.3(KIF1B):c.4221C>A (p.Val1407=)
|
|
|
NM_001365951.3(KIF1B):c.4225T>C (p.Tyr1409His)
|
|
|
NM_001365951.3(KIF1B):c.422C>G (p.Ser141Cys)
|
rs2102194265
|
|
NM_001365951.3(KIF1B):c.4237G>A (p.Ala1413Thr)
|
rs1553170117
|
|
NM_001365951.3(KIF1B):c.4255C>T (p.Arg1419Cys)
|
|
|
NM_001365951.3(KIF1B):c.4263G>C (p.Leu1421=)
|
rs2102345665
|
|
NM_001365951.3(KIF1B):c.4264C>T (p.Arg1422Cys)
|
|
|
NM_001365951.3(KIF1B):c.4278C>T (p.Gly1426=)
|
|
|
NM_001365951.3(KIF1B):c.4280G>C (p.Ser1427Thr)
|
rs755113137
|
|
NM_001365951.3(KIF1B):c.429+13G>T
|
|
|
NM_001365951.3(KIF1B):c.429+6dup
|
rs2102194280
|
|
NM_001365951.3(KIF1B):c.4298_4299delinsGG (p.Pro1433Arg)
|
|
|
NM_001365951.3(KIF1B):c.430-13A>T
|
|
|
NM_001365951.3(KIF1B):c.430-15C>G
|
|
|
NM_001365951.3(KIF1B):c.430-5C>T
|
|
|
NM_001365951.3(KIF1B):c.430-9del
|
rs771477893
|
|
NM_001365951.3(KIF1B):c.4304+10del
|
|
|
NM_001365951.3(KIF1B):c.4304+14A>G
|
rs2102345754
|
|
NM_001365951.3(KIF1B):c.4305-20G>A
|
rs1279066873
|
|
NM_001365951.3(KIF1B):c.4305-20G>C
|
|
|
NM_001365951.3(KIF1B):c.4305-2A>T
|
|
|
NM_001365951.3(KIF1B):c.4310G>A (p.Arg1437Gln)
|
|
|
NM_001365951.3(KIF1B):c.4338A>C (p.Leu1446Phe)
|
rs143112560
|
|
NM_001365951.3(KIF1B):c.4347G>A (p.Met1449Ile)
|
rs1638475945
|
|
NM_001365951.3(KIF1B):c.4366+17T>G
|
|
|
NM_001365951.3(KIF1B):c.4366+4A>T
|
|
|
NM_001365951.3(KIF1B):c.4366+9T>C
|
|
|
NM_001365951.3(KIF1B):c.4367-15T>C
|
rs2102349800
|
|
NM_001365951.3(KIF1B):c.4367-5C>T
|
rs2102349814
|
|
NM_001365951.3(KIF1B):c.4367-9_4367-8del
|
rs760020005
|
|
NM_001365951.3(KIF1B):c.4388A>G (p.Lys1463Arg)
|
|
|
NM_001365951.3(KIF1B):c.4390A>G (p.Ile1464Val)
|
|
|
NM_001365951.3(KIF1B):c.4392C>T (p.Ile1464=)
|
|
|
NM_001365951.3(KIF1B):c.4401G>A (p.Thr1467=)
|
|
|
NM_001365951.3(KIF1B):c.4405G>A (p.Val1469Met)
|
rs1638531827
|
|
NM_001365951.3(KIF1B):c.4413T>C (p.Tyr1471=)
|
rs2102349869
|
|
NM_001365951.3(KIF1B):c.4418G>A (p.Arg1473Gln)
|
|
|
NM_001365951.3(KIF1B):c.4418G>T (p.Arg1473Leu)
|
|
|
NM_001365951.3(KIF1B):c.4421G>C (p.Gly1474Ala)
|
|
|
NM_001365951.3(KIF1B):c.4428G>A (p.Glu1476=)
|
|
|
NM_001365951.3(KIF1B):c.4449C>G (p.Pro1483=)
|
rs2102349912
|
|
NM_001365951.3(KIF1B):c.4451G>A (p.Arg1484His)
|
|
|
NM_001365951.3(KIF1B):c.4457A>G (p.Asp1486Gly)
|
rs2102349923
|
|
NM_001365951.3(KIF1B):c.4466T>C (p.Ile1489Thr)
|
rs1638533756
|
|
NM_001365951.3(KIF1B):c.4479G>A (p.Gln1493=)
|
rs1638533963
|
|
NM_001365951.3(KIF1B):c.4501C>G (p.Leu1501Val)
|
|
|
NM_001365951.3(KIF1B):c.4512+11G>A
|
|
|
NM_001365951.3(KIF1B):c.4512+15G>C
|
rs1638535500
|
|
NM_001365951.3(KIF1B):c.4512+16del
|
|
|
NM_001365951.3(KIF1B):c.4512+9_4512+12dup
|
|
|
NM_001365951.3(KIF1B):c.4513-14A>G
|
|
|
NM_001365951.3(KIF1B):c.4513-20A>G
|
rs1344150193
|
|
NM_001365951.3(KIF1B):c.4548G>T (p.Glu1516Asp)
|
|
|
NM_001365951.3(KIF1B):c.4574_4575delinsAT (p.Ser1525Tyr)
|
rs1638543931
|
|
NM_001365951.3(KIF1B):c.4581C>T (p.Ser1527=)
|
|
|
NM_001365951.3(KIF1B):c.4586C>G (p.Ser1529Trp)
|
|
|
NM_001365951.3(KIF1B):c.4586C>T (p.Ser1529Leu)
|
rs781051649
|
|
NM_001365951.3(KIF1B):c.4587G>A (p.Ser1529=)
|
|
|
NM_001365951.3(KIF1B):c.4611G>A (p.Gly1537=)
|
|
|
NM_001365951.3(KIF1B):c.4615C>T (p.Leu1539Phe)
|
|
|
NM_001365951.3(KIF1B):c.4623C>T (p.Thr1541=)
|
rs1415477397
|
|
NM_001365951.3(KIF1B):c.4627A>G (p.Thr1543Ala)
|
rs1638546150
|
|
NM_001365951.3(KIF1B):c.4644G>A (p.Gln1548=)
|
|
|
NM_001365951.3(KIF1B):c.4644G>T (p.Gln1548His)
|
rs199611419
|
|
NM_001365951.3(KIF1B):c.4647C>T (p.Ile1549=)
|
|
|
NM_001365951.3(KIF1B):c.4651A>G (p.Thr1551Ala)
|
|
|
NM_001365951.3(KIF1B):c.4653C>T (p.Thr1551=)
|
|
|
NM_001365951.3(KIF1B):c.4657A>C (p.Thr1553Pro)
|
|
|
NM_001365951.3(KIF1B):c.4692T>C (p.Ser1564=)
|
rs2102350508
|
|
NM_001365951.3(KIF1B):c.4700A>T (p.Asp1567Val)
|
|
|
NM_001365951.3(KIF1B):c.4713C>T (p.Ile1571=)
|
rs750386624
|
|
NM_001365951.3(KIF1B):c.4714G>A (p.Glu1572Lys)
|
|
|
NM_001365951.3(KIF1B):c.4723G>A (p.Val1575Met)
|
rs756027011
|
|
NM_001365951.3(KIF1B):c.474G>T (p.Leu158=)
|
rs1648529329
|
|
NM_001365951.3(KIF1B):c.4751A>C (p.Lys1584Thr)
|
|
|
NM_001365951.3(KIF1B):c.4752+11C>T
|
|
|
NM_001365951.3(KIF1B):c.4752+14C>T
|
|
|
NM_001365951.3(KIF1B):c.4753-16T>C
|
|
|
NM_001365951.3(KIF1B):c.4753-3T>C
|
|
|
NM_001365951.3(KIF1B):c.4753-4T>A
|
rs2102354385
|
|
NM_001365951.3(KIF1B):c.4753-6_4753-4del
|
rs2102354381
|
|
NM_001365951.3(KIF1B):c.4761A>G (p.Gln1587=)
|
rs960083901
|
|
NM_001365951.3(KIF1B):c.4776T>G (p.Thr1592=)
|
|
|
NM_001365951.3(KIF1B):c.4779C>A (p.Phe1593Leu)
|
|
|
NM_001365951.3(KIF1B):c.4793G>C (p.Ser1598Thr)
|
|
|
NM_001365951.3(KIF1B):c.4804G>T (p.Gly1602Cys)
|
|
|
NM_001365951.3(KIF1B):c.4808G>A (p.Ser1603Asn)
|
|
|
NM_001365951.3(KIF1B):c.4809C>T (p.Ser1603=)
|
|
|
NM_001365951.3(KIF1B):c.4813A>G (p.Ser1605Gly)
|
|
|
NM_001365951.3(KIF1B):c.4814G>A (p.Ser1605Asn)
|
rs978846620
|
|
NM_001365951.3(KIF1B):c.4816G>C (p.Asp1606His)
|
rs780601677
|
|
NM_001365951.3(KIF1B):c.4824+16_4824+17del
|
rs764397992
|
|
NM_001365951.3(KIF1B):c.4824+3G>A
|
rs1638638432
|
|
NM_001365951.3(KIF1B):c.4824+9A>G
|
|
|
NM_001365951.3(KIF1B):c.4825-13G>A
|
|
|
NM_001365951.3(KIF1B):c.4825-14C>T
|
|
|
NM_001365951.3(KIF1B):c.4834A>C (p.Ile1612Leu)
|
|
|
NM_001365951.3(KIF1B):c.4847G>A (p.Gly1616Glu)
|
rs2102358105
|
|
NM_001365951.3(KIF1B):c.4858T>C (p.Ser1620Pro)
|
|
|
NM_001365951.3(KIF1B):c.488A>G (p.Lys163Arg)
|
|
|
NM_001365951.3(KIF1B):c.4895C>T (p.Ser1632Phe)
|
|
|
NM_001365951.3(KIF1B):c.4896C>T (p.Ser1632=)
|
|
|
NM_001365951.3(KIF1B):c.4899C>G (p.Ser1633=)
|
|
|
NM_001365951.3(KIF1B):c.4900A>G (p.Thr1634Ala)
|
|
|
NM_001365951.3(KIF1B):c.4904G>T (p.Cys1635Phe)
|
rs142714491
|
|
NM_001365951.3(KIF1B):c.4920C>T (p.Asp1640=)
|
|
|
NM_001365951.3(KIF1B):c.4928G>T (p.Ser1643Ile)
|
rs2102358222
|
|
NM_001365951.3(KIF1B):c.4931A>G (p.Asn1644Ser)
|
|
|
NM_001365951.3(KIF1B):c.4939G>A (p.Asp1647Asn)
|
rs2102358247
|
|
NM_001365951.3(KIF1B):c.4946+9C>A
|
|
|
NM_001365951.3(KIF1B):c.4947-13_4947-10del
|
|
|
NM_001365951.3(KIF1B):c.4952C>G (p.Pro1651Arg)
|
|
|
NM_001365951.3(KIF1B):c.4977T>C (p.Ser1659=)
|
rs778240671
|
|
NM_001365951.3(KIF1B):c.4988A>C (p.Glu1663Ala)
|
rs1638827878
|
|
NM_001365951.3(KIF1B):c.498G>A (p.Leu166=)
|
|
|
NM_001365951.3(KIF1B):c.4999T>C (p.Phe1667Leu)
|
|
|
NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)
|
|
|
NM_001365951.3(KIF1B):c.500G>A (p.Arg167His)
|
rs2102205265
|
|
NM_001365951.3(KIF1B):c.5013A>T (p.Pro1671=)
|
|
|
NM_001365951.3(KIF1B):c.5022A>G (p.Glu1674=)
|
|
|
NM_001365951.3(KIF1B):c.5024C>T (p.Thr1675Ile)
|
|
|
NM_001365951.3(KIF1B):c.5052C>T (p.Asn1684=)
|
|
|
NM_001365951.3(KIF1B):c.5079T>G (p.Ile1693Met)
|
rs752044197
|
|
NM_001365951.3(KIF1B):c.5080G>A (p.Glu1694Lys)
|
|
|
NM_001365951.3(KIF1B):c.5092C>G (p.Pro1698Ala)
|
|
|
NM_001365951.3(KIF1B):c.5095A>G (p.Ser1699Gly)
|
|
|
NM_001365951.3(KIF1B):c.5096+13T>C
|
|
|
NM_001365951.3(KIF1B):c.5096+7A>G
|
|
|
NM_001365951.3(KIF1B):c.5097-20T>C
|
rs2102363216
|
|
NM_001365951.3(KIF1B):c.5099C>T (p.Ser1700Leu)
|
|
|
NM_001365951.3(KIF1B):c.5118A>G (p.Gly1706=)
|
|
|
NM_001365951.3(KIF1B):c.5130C>T (p.Phe1710=)
|
|
|
NM_001365951.3(KIF1B):c.5137C>G (p.Pro1713Ala)
|
rs755893509
|
|
NM_001365951.3(KIF1B):c.513C>T (p.His171=)
|
|
|
NM_001365951.3(KIF1B):c.514C>A (p.Pro172Thr)
|
|
|
NM_001365951.3(KIF1B):c.5156C>T (p.Ala1719Val)
|
rs2102363299
|
|
NM_001365951.3(KIF1B):c.5172C>T (p.Val1724=)
|
|
|
NM_001365951.3(KIF1B):c.5176C>G (p.Arg1726Gly)
|
|
|
NM_001365951.3(KIF1B):c.5185T>C (p.Tyr1729His)
|
|
|
NM_001365951.3(KIF1B):c.5189T>C (p.Val1730Ala)
|
|
|
NM_001365951.3(KIF1B):c.5198A>G (p.Tyr1733Cys)
|
|
|
NM_001365951.3(KIF1B):c.5208C>A (p.Asp1736Glu)
|
rs749483779
|
|
NM_001365951.3(KIF1B):c.520C>T (p.Leu174Phe)
|
rs1648530496
|
|
NM_001365951.3(KIF1B):c.5235T>C (p.Ile1745=)
|
|
|
NM_001365951.3(KIF1B):c.5236A>C (p.Asn1746His)
|
rs556099463
|
|
NM_001365951.3(KIF1B):c.5251C>T (p.Gln1751Ter)
|
rs2102363451
|
|
NM_001365951.3(KIF1B):c.5260T>G (p.Tyr1754Asp)
|
rs1361142669
|
|
NM_001365951.3(KIF1B):c.5277G>A (p.Gln1759=)
|
|
|
NM_001365951.3(KIF1B):c.5277G>C (p.Gln1759His)
|
|
|
NM_001365951.3(KIF1B):c.5278G>A (p.Ala1760Thr)
|
|
|
NM_001365951.3(KIF1B):c.5286G>A (p.Val1762=)
|
|
|
NM_001365951.3(KIF1B):c.5290-3C>T
|
|
|
NM_001365951.3(KIF1B):c.5293C>G (p.Pro1765Ala)
|
|
|
NM_001365951.3(KIF1B):c.5294C>T (p.Pro1765Leu)
|
rs1638850153
|
|
NM_001365951.3(KIF1B):c.5301C>G (p.Thr1767=)
|
|
|
NM_001365951.3(KIF1B):c.5303T>G (p.Phe1768Cys)
|
|
|
NM_001365951.3(KIF1B):c.5313C>T (p.Cys1771=)
|
|
|
NM_001365951.3(KIF1B):c.5322C>G (p.His1774Gln)
|
rs1638851135
|
|
NM_001365951.3(KIF1B):c.5324G>T (p.Arg1775Leu)
|
|
|
NM_001365951.3(KIF1B):c.5356G>A (p.Asp1786Asn)
|
|
|
NM_001365951.3(KIF1B):c.5386C>A (p.Pro1796Thr)
|
|
|
NM_001365951.3(KIF1B):c.5388A>C (p.Pro1796=)
|
|
|
NM_001365951.3(KIF1B):c.5397T>G (p.Ala1799=)
|
|
|
NM_001365951.3(KIF1B):c.5398G>A (p.Gly1800Ser)
|
|
|
NM_001365951.3(KIF1B):c.5408+11TTG[4]
|
rs371033478
|
|
NM_001365951.3(KIF1B):c.5408+11TTG[5]
|
rs371033478
|
|
NM_001365951.3(KIF1B):c.5408+11TTG[7]
|
rs371033478
|
|
NM_001365951.3(KIF1B):c.5408+13G>T
|
rs1638854124
|
|
NM_001365951.3(KIF1B):c.5408+18T>C
|
|
|
NM_001365951.3(KIF1B):c.5408+19G>A
|
|
|
NM_001365951.3(KIF1B):c.5408+20T>C
|
|
|
NM_001365951.3(KIF1B):c.5408+6A>C
|
|
|
NM_001365951.3(KIF1B):c.5408G>A (p.Arg1803Gln)
|
|
|
NM_001365951.3(KIF1B):c.5409-16del
|
rs2102365749
|
|
NM_001365951.3(KIF1B):c.5431C>A (p.Pro1811Thr)
|
|
|
NM_001365951.3(KIF1B):c.543G>C (p.Leu181=)
|
|
|
NM_001365951.3(KIF1B):c.5441C>T (p.Ser1814Leu)
|
rs761319935
|
|
NM_001365951.3(KIF1B):c.549G>A (p.Lys183=)
|
|
|
NM_001365951.3(KIF1B):c.551T>C (p.Leu184Ser)
|
|
|
NM_001365951.3(KIF1B):c.554C>T (p.Ala185Val)
|
|
|
NM_001365951.3(KIF1B):c.560C>G (p.Thr187Ser)
|
|
|
NM_001365951.3(KIF1B):c.567C>T (p.Tyr189=)
|
rs748370435
|
|
NM_001365951.3(KIF1B):c.586A>G (p.Met196Val)
|
rs2102205493
|
|
NM_001365951.3(KIF1B):c.608+3A>G
|
|
|
NM_001365951.3(KIF1B):c.609-6A>G
|
rs1276227203
|
|
NM_001365951.3(KIF1B):c.609-8T>A
|
rs2102206798
|
|
NM_001365951.3(KIF1B):c.655G>T (p.Ala219Ser)
|
|
|
NM_001365951.3(KIF1B):c.662T>G (p.Phe221Cys)
|
rs1648577899
|
|
NM_001365951.3(KIF1B):c.665C>T (p.Thr222Met)
|
rs2102206895
|
|
NM_001365951.3(KIF1B):c.691G>T (p.Asp231Tyr)
|
rs760067826
|
|
NM_001365951.3(KIF1B):c.692A>G (p.Asp231Gly)
|
|
|
NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)
|
|
|
NM_001365951.3(KIF1B):c.704A>G (p.Asn235Ser)
|
|
|
NM_001365951.3(KIF1B):c.715G>A (p.Glu239Lys)
|
|
|
NM_001365951.3(KIF1B):c.720+17C>A
|
|
|
NM_001365951.3(KIF1B):c.730A>G (p.Ile244Val)
|
|
|
NM_001365951.3(KIF1B):c.731T>C (p.Ile244Thr)
|
rs2102213204
|
|
NM_001365951.3(KIF1B):c.750A>C (p.Ala250=)
|
rs2102213217
|
|
NM_001365951.3(KIF1B):c.776G>A (p.Gly259Asp)
|
rs767229413
|
|
NM_001365951.3(KIF1B):c.777T>C (p.Gly259=)
|
rs2102213262
|
|
NM_001365951.3(KIF1B):c.783A>G (p.Lys261=)
|
rs1648800243
|
|
NM_001365951.3(KIF1B):c.798+14C>G
|
|
|
NM_001365951.3(KIF1B):c.799-11A>G
|
|
|
NM_001365951.3(KIF1B):c.799-20A>G
|
|
|
NM_001365951.3(KIF1B):c.799-6_799-2del
|
rs2102214337
|
|
NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)
|
|
|
NM_001365951.3(KIF1B):c.817A>T (p.Lys273Ter)
|
|
|
NM_001365951.3(KIF1B):c.82A>C (p.Ile28Leu)
|
rs1646994908
|
|
NM_001365951.3(KIF1B):c.833T>G (p.Leu278Trp)
|
rs1648841810
|
|
NM_001365951.3(KIF1B):c.834G>A (p.Leu278=)
|
|
|
NM_001365951.3(KIF1B):c.861G>C (p.Glu287Asp)
|
|
|
NM_001365951.3(KIF1B):c.864+13C>T
|
|
|
NM_001365951.3(KIF1B):c.87G>C (p.Gln29His)
|
rs2102129325
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001365951.3(KIF1B):c.883-15C>T
|
rs1397719362
|
|
NM_001365951.3(KIF1B):c.883-20C>T
|
|
|
NM_001365951.3(KIF1B):c.883-8T>C
|
|
|
NM_001365951.3(KIF1B):c.887A>G (p.Lys296Arg)
|
|
|
NM_001365951.3(KIF1B):c.891GAA[2] (p.Lys300del)
|
rs1180929845
|
|
NM_001365951.3(KIF1B):c.93A>G (p.Gln31=)
|
rs765851262
|
|
NM_001365951.3(KIF1B):c.942C>T (p.Leu314=)
|
rs1060504381
|
|
NM_001365951.3(KIF1B):c.955T>A (p.Leu319Ile)
|
|
|
NM_001365951.3(KIF1B):c.958+5G>A
|
|
|
NM_001365951.3(KIF1B):c.959-10A>G
|
|
|
NM_001365951.3(KIF1B):c.965A>G (p.Asn322Ser)
|
rs2102222233
|
|
NM_001365951.3(KIF1B):c.978A>G (p.Ala326=)
|
rs1011233723
|
|
NM_001365951.3(KIF1B):c.979A>G (p.Met327Val)
|
|
|
NM_001365951.3(KIF1B):c.985G>A (p.Ala329Thr)
|
rs2102222288
|
|
NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)
|
|
|
NM_001365951.3(KIF1B):c.993G>A (p.Leu331=)
|
rs2102222302
|
|
NM_001370298.3(FGD4):c.1004A>G (p.Glu335Gly)
|
rs1304257221
|
|
NM_001370298.3(FGD4):c.1005G>A (p.Glu335=)
|
|
|
NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile)
|
rs1592295526
|
|
NM_001370298.3(FGD4):c.1011+13A>G
|
rs2136436231
|
|
NM_001370298.3(FGD4):c.1012-11C>G
|
|
|
NM_001370298.3(FGD4):c.1012-12T>C
|
|
|
NM_001370298.3(FGD4):c.1012-19A>C
|
rs779138200
|
|
NM_001370298.3(FGD4):c.1012-19A>G
|
|
|
NM_001370298.3(FGD4):c.1014G>A (p.Glu338=)
|
|
|
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)
|
rs201676628
|
|
NM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile)
|
|
|
NM_001370298.3(FGD4):c.1051del (p.Leu351fs)
|
rs1948089932
|
|
NM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr)
|
rs1211624997
|
|
NM_001370298.3(FGD4):c.1071T>G (p.Ala357=)
|
rs781493748
|
|
NM_001370298.3(FGD4):c.1077C>T (p.Val359=)
|
|
|
NM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr)
|
|
|
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)
|
rs118203972
|
|
NM_001370298.3(FGD4):c.1082G>A (p.Arg361Gln)
|
rs903824731
|
|
NM_001370298.3(FGD4):c.1101+6A>T
|
rs1948094442
|
|
NM_001370298.3(FGD4):c.1101+7T>A
|
|
|
NM_001370298.3(FGD4):c.1102-20T>C
|
|
|
NM_001370298.3(FGD4):c.1102-4T>G
|
|
|
NM_001370298.3(FGD4):c.1102-6A>G
|
|
|
NM_001370298.3(FGD4):c.1113C>T (p.Cys371=)
|
rs1023107131
|
|
NM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr)
|
|
|
NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter)
|
rs1948408994
|
|
NM_001370298.3(FGD4):c.1141T>C (p.Ser381Pro)
|
|
|
NM_001370298.3(FGD4):c.1151C>T (p.Ala384Val)
|
rs1295394925
|
|
NM_001370298.3(FGD4):c.1156A>G (p.Met386Val)
|
rs1948410675
|
|
NM_001370298.3(FGD4):c.1158G>A (p.Met386Ile)
|
|
|
NM_001370298.3(FGD4):c.1200C>T (p.Phe400=)
|
|
|
NM_001370298.3(FGD4):c.1202A>T (p.His401Leu)
|
rs2136650004
|
|
NM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln)
|
|
|
NM_001370298.3(FGD4):c.1248-11A>G
|
|
|
NM_001370298.3(FGD4):c.1248-19T>G
|
|
|
NM_001370298.3(FGD4):c.1248-3C>T
|
|
|
NM_001370298.3(FGD4):c.1248-4A>G
|
|
|
NM_001370298.3(FGD4):c.1248-7G>A
|
rs2136658308
|
|
NM_001370298.3(FGD4):c.1248-9T>A
|
rs2136658280
|
|
NM_001370298.3(FGD4):c.1268G>T (p.Gly423Val)
|
rs2136658541
|
|
NM_001370298.3(FGD4):c.1284A>G (p.Lys428=)
|
rs1224103433
|
|
NM_001370298.3(FGD4):c.1286T>C (p.Leu429Ser)
|
rs2136658634
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1327T>C (p.Phe443Leu)
|
rs2136659122
|
|
NM_001370298.3(FGD4):c.1333A>T (p.Asn445Tyr)
|
|
|
NM_001370298.3(FGD4):c.1334A>C (p.Asn445Thr)
|
rs1451834045
|
|
NM_001370298.3(FGD4):c.1344A>G (p.Glu448=)
|
rs1160194150
|
|
NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp)
|
|
|
NM_001370298.3(FGD4):c.1368T>A (p.Arg456=)
|
|
|
NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr)
|
|
|
NM_001370298.3(FGD4):c.1372C>T (p.Pro458Ser)
|
rs2136659608
|
|
NM_001370298.3(FGD4):c.1387G>A (p.Val463Met)
|
rs2136659690
|
|
NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile)
|
rs2082190695
|
|
NM_001370298.3(FGD4):c.1390G>T (p.Val464Phe)
|
|
|
NM_001370298.3(FGD4):c.1391T>C (p.Val464Ala)
|
rs2136659782
|
|
NM_001370298.3(FGD4):c.1404+20C>T
|
|
|
NM_001370298.3(FGD4):c.1404+2T>A
|
rs1948478259
|
|
NM_001370298.3(FGD4):c.1404+4A>T
|
rs767855809
|
|
NM_001370298.3(FGD4):c.1404+5dup
|
rs2136659935
|
|
NM_001370298.3(FGD4):c.1404+6A>T
|
rs2136659955
|
|
NM_001370298.3(FGD4):c.1405-7A>T
|
|
|
NM_001370298.3(FGD4):c.1413A>G (p.Lys471=)
|
rs2136723717
|
|
NM_001370298.3(FGD4):c.1444A>G (p.Met482Val)
|
rs1404084092
|
|
NM_001370298.3(FGD4):c.1454C>A (p.Pro485His)
|
rs928398769
|
|
NM_001370298.3(FGD4):c.1454del (p.Pro485fs)
|
rs1592387932
|
|
NM_001370298.3(FGD4):c.1463G>C (p.Arg488Pro)
|
rs138762438
|
|
NM_001370298.3(FGD4):c.1470C>A (p.Pro490=)
|
rs16920084
|
|
NM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu)
|
|
|
NM_001370298.3(FGD4):c.1491G>T (p.Lys497Asn)
|
rs1948897635
|
|
NM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly)
|
|
|
NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)
|
|
|
NM_001370298.3(FGD4):c.1514C>T (p.Pro505Leu)
|
rs1948899992
|
|
NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val)
|
rs754600353
|
|
NM_001370298.3(FGD4):c.1543+17del
|
rs548627916
|
|
NM_001370298.3(FGD4):c.1543+17dup
|
rs548627916
|
|
NM_001370298.3(FGD4):c.1543+18del
|
|
|
NM_001370298.3(FGD4):c.1543+8C>T
|
rs75622900
|
|
NM_001370298.3(FGD4):c.1543+9T>C
|
|
|
NM_001370298.3(FGD4):c.1543A>C (p.Lys515Gln)
|
rs2136725845
|
|
NM_001370298.3(FGD4):c.1544-17del
|
|
|
NM_001370298.3(FGD4):c.1544-19T>G
|
|
|
NM_001370298.3(FGD4):c.1545A>G (p.Lys515=)
|
|
|
NM_001370298.3(FGD4):c.1546T>G (p.Ser516Ala)
|
rs1396328756
|
|
NM_001370298.3(FGD4):c.1548A>G (p.Ser516=)
|
|
|
NM_001370298.3(FGD4):c.1562C>T (p.Ser521Phe)
|
rs1949089197
|
|
NM_001370298.3(FGD4):c.1602+1G>C
|
rs2136763097
|
|
NM_001370298.3(FGD4):c.1603-9A>T
|
rs1555217855
|
|
NM_001370298.3(FGD4):c.1605G>A (p.Glu535=)
|
rs746263549
|
|
NM_001370298.3(FGD4):c.1605G>T (p.Glu535Asp)
|
rs746263549
|
|
NM_001370298.3(FGD4):c.1608C>T (p.Asn536=)
|
|
|
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=)
|
rs750265200
|
|
NM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg)
|
|
|
NM_001370298.3(FGD4):c.1632T>C (p.Tyr544=)
|
|
|
NM_001370298.3(FGD4):c.1644AGA[3] (p.Glu551del)
|
rs1264651352
|
|
NM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp)
|
|
|
NM_001370298.3(FGD4):c.1667C>T (p.Pro556Leu)
|
rs773514635
|
|
NM_001370298.3(FGD4):c.1669T>A (p.Ser557Thr)
|
rs759385629
|
|
NM_001370298.3(FGD4):c.1730A>G (p.Gln577Arg)
|
rs2136769216
|
|
NM_001370298.3(FGD4):c.1735C>T (p.Arg579Cys)
|
rs1949117700
|
|
NM_001370298.3(FGD4):c.1738T>C (p.Tyr580His)
|
rs1555217941
|
|
NM_001370298.3(FGD4):c.1749+11T>C
|
rs1195832498
|
|
NM_001370298.3(FGD4):c.1749+15G>A
|
|
|
NM_001370298.3(FGD4):c.1749+18G>C
|
rs2136769839
|
|
NM_001370298.3(FGD4):c.1750-11G>A
|
|
|
NM_001370298.3(FGD4):c.1755C>T (p.Asn585=)
|
rs2136878570
|
|
NM_001370298.3(FGD4):c.1788C>T (p.Ser596=)
|
|
|
NM_001370298.3(FGD4):c.1798T>C (p.Ser600Pro)
|
rs2136879170
|
|
NM_001370298.3(FGD4):c.1814G>A (p.Arg605Gln)
|
|
|
NM_001370298.3(FGD4):c.1817C>G (p.Thr606Ser)
|
rs2136879434
|
|
NM_001370298.3(FGD4):c.1840A>C (p.Lys614Gln)
|
rs1949689887
|
|
NM_001370298.3(FGD4):c.1866A>G (p.Glu622=)
|
|
|
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
|
|
|
NM_001370298.3(FGD4):c.1893G>A (p.Gly631=)
|
|
|
NM_001370298.3(FGD4):c.1922+10C>T
|
|
|
NM_001370298.3(FGD4):c.1922+4A>G
|
rs760192025
|
|
NM_001370298.3(FGD4):c.1923-6_1923-2del
|
rs1950025678
|
|
NM_001370298.3(FGD4):c.1923-7A>T
|
|
|
NM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala)
|
|
|
NM_001370298.3(FGD4):c.1929G>T (p.Ala643=)
|
rs11052110
|
|
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter)
|
rs2136932206
|
|
NM_001370298.3(FGD4):c.1953+7C>G
|
rs1408854259
|
|
NM_001370298.3(FGD4):c.2024A>G (p.Asn675Ser)
|
rs1592452330
|
|
NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser)
|
rs760696455
|
|
NM_001370298.3(FGD4):c.2035T>A (p.Ser679Thr)
|
rs150746174
|
|
NM_001370298.3(FGD4):c.2046+15A>G
|
rs2136939057
|
|
NM_001370298.3(FGD4):c.2055G>A (p.Glu685=)
|
rs2136945519
|
|
NM_001370298.3(FGD4):c.2070C>A (p.Ala690=)
|
rs188104446
|
|
NM_001370298.3(FGD4):c.2076A>G (p.Arg692=)
|
|
|
NM_001370298.3(FGD4):c.2103G>A (p.Met701Ile)
|
rs1267580970
|
|
NM_001370298.3(FGD4):c.2117A>G (p.Lys706Arg)
|
rs1950119263
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2122C>T (p.Pro708Ser)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu)
|
rs145071617
|
|
NM_001370298.3(FGD4):c.2130T>C (p.Asn710=)
|
rs1462411791
|
|
NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln)
|
rs372890690
|
|
NM_001370298.3(FGD4):c.2162C>T (p.Ala721Val)
|
|
|
NM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg)
|
rs1432249262
|
|
NM_001370298.3(FGD4):c.2169A>C (p.Gly723=)
|
rs200761894
|
|
NM_001370298.3(FGD4):c.2172+11T>C
|
|
|
NM_001370298.3(FGD4):c.2172+18A>G
|
|
|
NM_001370298.3(FGD4):c.2172+7del
|
|
|
NM_001370298.3(FGD4):c.2173-19T>C
|
|
|
NM_001370298.3(FGD4):c.2228A>G (p.Lys743Arg)
|
rs1950617596
|
|
NM_001370298.3(FGD4):c.2230T>C (p.Leu744=)
|
|
|
NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe)
|
rs1950618963
|
|
NM_001370298.3(FGD4):c.2244_2313+238delinsGGAGG
|
rs1950619177
|
|
NM_001370298.3(FGD4):c.2249A>C (p.Asp750Ala)
|
rs1950619446
|
|
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs)
|
rs1401878479
|
|
NM_001370298.3(FGD4):c.2259A>C (p.Gln753His)
|
|
|
NM_001370298.3(FGD4):c.2262C>T (p.Ile754=)
|
rs1269801867
|
|
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs)
|
rs1555223595
|
|
NM_001370298.3(FGD4):c.2278G>C (p.Asp760His)
|
rs2137024260
|
|
NM_001370298.3(FGD4):c.2285A>G (p.Glu762Gly)
|
rs139663812
|
|
NM_001370298.3(FGD4):c.2288A>T (p.Glu763Val)
|
rs1484964809
|
|
NM_001370298.3(FGD4):c.2292G>A (p.Lys764=)
|
|
|
NM_001370298.3(FGD4):c.2292_2294del (p.Lys765del)
|
|
|
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2313+5G>C
|
rs777362500
|
|
NM_001370298.3(FGD4):c.2314-18T>G
|
|
|
NM_001370298.3(FGD4):c.2325A>G (p.Ala775=)
|
|
|
NM_001370298.3(FGD4):c.2330T>C (p.Val777Ala)
|
|
|
NM_001370298.3(FGD4):c.2340C>A (p.Asn780Lys)
|
rs1555224749
|
|
NM_001370298.3(FGD4):c.2345T>C (p.Val782Ala)
|
rs1296247975
|
|
NM_001370298.3(FGD4):c.2346G>T (p.Val782=)
|
rs1950988125
|
|
NM_001370298.3(FGD4):c.2361T>G (p.Leu787=)
|
rs1358873743
|
|
NM_001370298.3(FGD4):c.2371G>C (p.Glu791Gln)
|
rs1276989118
|
|
NM_001370298.3(FGD4):c.2404G>A (p.Val802Met)
|
rs768786804
|
|
NM_001370298.3(FGD4):c.2421C>T (p.Asp807=)
|
|
|
NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu)
|
|
|
NM_001370298.3(FGD4):c.2433G>A (p.Leu811=)
|
rs2137076847
|
|
NM_001370298.3(FGD4):c.2444dup (p.Ala816fs)
|
rs2137076976
|
|
NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)
|
|
|
NM_001370298.3(FGD4):c.2451C>T (p.Pro817=)
|
rs1314359233
|
|
NM_001370298.3(FGD4):c.2452del (p.Gln818fs)
|
rs1060501904
|
|
NM_001370298.3(FGD4):c.2452dup (p.Gln818fs)
|
|
|
NM_001370298.3(FGD4):c.2454+19T>A
|
rs1950996056
|
|
NM_001370298.3(FGD4):c.2455-10T>C
|
rs1592514932
|
|
NM_001370298.3(FGD4):c.2455-7T>C
|
rs2137091888
|
|
NM_001370298.3(FGD4):c.2457C>T (p.Asp819=)
|
|
|
NM_001370298.3(FGD4):c.2472C>T (p.Ala824=)
|
rs370230063
|
|
NM_001370298.3(FGD4):c.2475C>T (p.Thr825=)
|
rs1356498279
|
|
NM_001370298.3(FGD4):c.2490C>T (p.Gly830=)
|
rs1951094637
|
|
NM_001370298.3(FGD4):c.2492A>G (p.Tyr831Cys)
|
rs760349455
|
|
NM_001370298.3(FGD4):c.2518G>T (p.Ala840Ser)
|
rs145630882
|
|
NM_001370298.3(FGD4):c.2538C>G (p.Phe846Leu)
|
rs1336663423
|
|
NM_001370298.3(FGD4):c.2554A>G (p.Lys852Glu)
|
rs1951098766
|
|
NM_001370298.3(FGD4):c.2560G>T (p.Val854Leu)
|
rs61753359
|
|
NM_001370298.3(FGD4):c.2562G>T (p.Val854=)
|
rs969579366
|
|
NM_001370298.3(FGD4):c.2563C>T (p.His855Tyr)
|
rs908838682
|
|
NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs)
|
rs1951100155
|
|
NM_001370298.3(FGD4):c.2590C>G (p.Leu864Val)
|
rs1592515601
|
|
NM_001370298.3(FGD4):c.2591T>A (p.Leu864Gln)
|
rs1592515619
|
|
NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
|
|
|
NM_001370298.3(FGD4):c.2626G>A (p.Val876Ile)
|
rs1411372303
|
|
NM_001370298.3(FGD4):c.2644G>A (p.Gly882Ser)
|
rs775920519
|
|
NM_001370298.3(FGD4):c.2663del (p.Pro888fs)
|
rs745923777
|
|
NM_001370298.3(FGD4):c.2665G>C (p.Ala889Pro)
|
|
|
NM_001370298.3(FGD4):c.2666C>A (p.Ala889Asp)
|
rs2137094596
|
|
NM_001370298.3(FGD4):c.2666C>T (p.Ala889Val)
|
rs2137094596
|
|
NM_001370298.3(FGD4):c.2679T>C (p.Asp893=)
|
|
|
NM_001370298.3(FGD4):c.2680C>T (p.His894Tyr)
|
rs1161666501
|
|
NM_001370298.3(FGD4):c.2700A>G (p.Lys900=)
|
|
|
NM_001370298.3(FGD4):c.2704G>T (p.Glu902Ter)
|
rs752612218
|
|
NM_001370298.3(FGD4):c.412A>G (p.Met138Val)
|
rs1946127146
|
|
NM_001370298.3(FGD4):c.417G>A (p.Glu139=)
|
rs1946127489
|
|
NM_001370298.3(FGD4):c.435T>A (p.Ser145=)
|
|
|
NM_001370298.3(FGD4):c.457A>G (p.Lys153Glu)
|
rs2136376441
|
|
NM_001370298.3(FGD4):c.468G>A (p.Lys156=)
|
rs1427707678
|
|
NM_001370298.3(FGD4):c.488G>T (p.Arg163Leu)
|
rs540449675
|
|
NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)
|
|
|
NM_001370298.3(FGD4):c.503+3A>C
|
rs2136376879
|
|
NM_001370298.3(FGD4):c.504-20C>G
|
rs1592293275
|
|
NM_001370298.3(FGD4):c.504-2A>C
|
|
|
NM_001370298.3(FGD4):c.504-8T>C
|
|
|
NM_001370298.3(FGD4):c.504-9A>G
|
|
|
NM_001370298.3(FGD4):c.510A>G (p.Leu170=)
|
|
|
NM_001370298.3(FGD4):c.536A>G (p.Glu179Gly)
|
|
|
NM_001370298.3(FGD4):c.600A>G (p.Gln200=)
|
|
|
NM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del)
|
rs763887179
|
|
NM_001370298.3(FGD4):c.609C>A (p.Leu203=)
|
|
|
NM_001370298.3(FGD4):c.610C>G (p.Leu204Val)
|
rs906371311
|
|
NM_001370298.3(FGD4):c.614C>T (p.Ser205Phe)
|
|
|
NM_001370298.3(FGD4):c.616del (p.Gln206fs)
|
rs2136432373
|
|
NM_001370298.3(FGD4):c.621C>T (p.His207=)
|
|
|
NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)
|
|
|
NM_001370298.3(FGD4):c.671C>G (p.Thr224Ser)
|
rs1282163986
|
|
NM_001370298.3(FGD4):c.674G>T (p.Cys225Phe)
|
rs201660852
|
|
NM_001370298.3(FGD4):c.675T>C (p.Cys225=)
|
|
|
NM_001370298.3(FGD4):c.683A>G (p.Asn228Ser)
|
rs1465985805
|
|
NM_001370298.3(FGD4):c.685G>A (p.Gly229Ser)
|
|
|
NM_001370298.3(FGD4):c.696A>C (p.Ala232=)
|
rs2136433041
|
|
NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)
|
rs1946667139
|
|
NM_001370298.3(FGD4):c.719_733del (p.Glu240_Ala244del)
|
rs1314855895
|
|
NM_001370298.3(FGD4):c.720G>A (p.Glu240=)
|
rs1232883602
|
|
NM_001370298.3(FGD4):c.727A>G (p.Lys243Glu)
|
rs1320412245
|
|
NM_001370298.3(FGD4):c.733G>A (p.Ala245Thr)
|
rs1946669350
|
|
NM_001370298.3(FGD4):c.755C>G (p.Ser252Cys)
|
rs1946671502
|
|
NM_001370298.3(FGD4):c.764C>T (p.Ala255Val)
|
rs1946672101
|
|
NM_001370298.3(FGD4):c.785C>G (p.Thr262Arg)
|
rs200732890
|
|
NM_001370298.3(FGD4):c.798T>C (p.Asn266=)
|
|
|
NM_001370298.3(FGD4):c.808G>T (p.Asp270Tyr)
|
|
|
NM_001370298.3(FGD4):c.823G>C (p.Ala275Pro)
|
|
|
NM_001370298.3(FGD4):c.824C>A (p.Ala275Asp)
|
|
|
NM_001370298.3(FGD4):c.828T>A (p.Pro276=)
|
rs1295234161
|
|
NM_001370298.3(FGD4):c.831A>G (p.Ala277=)
|
|
|
NM_001370298.3(FGD4):c.838A>G (p.Thr280Ala)
|
rs1463004734
|
|
NM_001370298.3(FGD4):c.840A>C (p.Thr280=)
|
|
|
NM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val)
|
|
|
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)
|
rs904582
|
|
NM_001370298.3(FGD4):c.846C>T (p.Asp282=)
|
rs904582
|
|
NM_001370298.3(FGD4):c.854A>T (p.Asp285Val)
|
rs1565869688
|
|
NM_001370298.3(FGD4):c.862G>A (p.Ala288Thr)
|
|
|
NM_001370298.3(FGD4):c.867T>C (p.Ser289=)
|
|
|
NM_001370298.3(FGD4):c.888A>G (p.Pro296=)
|
|
|
NM_001370298.3(FGD4):c.900_902del (p.Val301del)
|
|
|
NM_001370298.3(FGD4):c.907C>T (p.Pro303Ser)
|
|
|
NM_001370298.3(FGD4):c.950A>G (p.Glu317Gly)
|
rs1452437045
|
|
NM_001370298.3(FGD4):c.955G>A (p.Glu319Lys)
|
rs1592295272
|
|
NM_001370298.3(FGD4):c.958A>G (p.Asn320Asp)
|
rs1946688403
|
|
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)
|
|
|
NM_001370298.3(FGD4):c.996G>A (p.Gln332=)
|
|
|
NM_001376.5(DYNC1H1):c.10014C>T (p.Ile3338=)
|
|
|
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)
|
rs2152591288
|
|
NM_001376.5(DYNC1H1):c.10017C>T (p.Arg3339=)
|
rs1175746508
|
|
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)
|
rs2048519381
|
|
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)
|
rs397509412
|
|
NM_001376.5(DYNC1H1):c.10041C>A (p.Phe3347Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10041C>T (p.Phe3347=)
|
|
|
NM_001376.5(DYNC1H1):c.10054G>A (p.Val3352Ile)
|
|
|
NM_001376.5(DYNC1H1):c.10074G>A (p.Glu3358=)
|
rs2048519857
|
|
NM_001376.5(DYNC1H1):c.10079+12G>A
|
|
|
NM_001376.5(DYNC1H1):c.10079+17G>C
|
|
|
NM_001376.5(DYNC1H1):c.10079+8del
|
|
|
NM_001376.5(DYNC1H1):c.10083C>A (p.Asp3361Glu)
|
|
|
NM_001376.5(DYNC1H1):c.10084G>T (p.Ala3362Ser)
|
|
|
NM_001376.5(DYNC1H1):c.10085C>T (p.Ala3362Val)
|
rs2152591666
|
|
NM_001376.5(DYNC1H1):c.10096A>G (p.Lys3366Glu)
|
|
|
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
|
rs1356616117
|
|
NM_001376.5(DYNC1H1):c.1011A>G (p.Lys337=)
|
rs2047887107
|
|
NM_001376.5(DYNC1H1):c.10128T>C (p.Ser3376=)
|
|
|
NM_001376.5(DYNC1H1):c.10134_10135inv (p.Asn3378_Tyr3379delinsLysAsn)
|
|
|
NM_001376.5(DYNC1H1):c.10136A>T (p.Tyr3379Phe)
|
|
|
NM_001376.5(DYNC1H1):c.10137T>C (p.Tyr3379=)
|
rs2152591684
|
|
NM_001376.5(DYNC1H1):c.10143T>A (p.Ile3381=)
|
rs1281508808
|
|
NM_001376.5(DYNC1H1):c.10143T>G (p.Ile3381Met)
|
rs1281508808
|
|
NM_001376.5(DYNC1H1):c.10150C>A (p.Arg3384=)
|
|
|
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)
|
rs1567019064
|
|
NM_001376.5(DYNC1H1):c.10167C>T (p.Cys3389=)
|
rs1445980535
|
|
NM_001376.5(DYNC1H1):c.10174A>G (p.Met3392Val)
|
rs2152591694
|
|
NM_001376.5(DYNC1H1):c.10182A>G (p.Lys3394=)
|
rs867202471
|
|
NM_001376.5(DYNC1H1):c.10189A>G (p.Ile3397Val)
|
|
|
NM_001376.5(DYNC1H1):c.10197+13G>C
|
|
|
NM_001376.5(DYNC1H1):c.10197+16A>G
|
|
|
NM_001376.5(DYNC1H1):c.10197+6dup
|
rs1292102708
|
|
NM_001376.5(DYNC1H1):c.10198-14T>C
|
|
|
NM_001376.5(DYNC1H1):c.10198-15A>G
|
|
|
NM_001376.5(DYNC1H1):c.10198-3C>A
|
|
|
NM_001376.5(DYNC1H1):c.10198-4C>A
|
rs1555411389
|
|
NM_001376.5(DYNC1H1):c.10198-8C>A
|
|
|
NM_001376.5(DYNC1H1):c.10198C>T (p.Leu3400Phe)
|
|
|
NM_001376.5(DYNC1H1):c.10200T>G (p.Leu3400=)
|
rs1171513480
|
|
NM_001376.5(DYNC1H1):c.10206T>C (p.Tyr3402=)
|
|
|
NM_001376.5(DYNC1H1):c.10213A>G (p.Met3405Val)
|
rs2048531389
|
|
NM_001376.5(DYNC1H1):c.10216T>G (p.Leu3406Val)
|
|
|
NM_001376.5(DYNC1H1):c.1021C>T (p.Leu341=)
|
|
|
NM_001376.5(DYNC1H1):c.10224A>G (p.Arg3408=)
|
|
|
NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)
|
|
|
NM_001376.5(DYNC1H1):c.10255C>T (p.Leu3419=)
|
|
|
NM_001376.5(DYNC1H1):c.10266C>T (p.Asp3422=)
|
rs775112499
|
|
NM_001376.5(DYNC1H1):c.10294G>A (p.Glu3432Lys)
|
rs2152591792
|
|
NM_001376.5(DYNC1H1):c.10305G>A (p.Gln3435=)
|
|
|
NM_001376.5(DYNC1H1):c.10312C>T (p.Arg3438Ter)
|
|
|
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
|
rs766521055
|
|
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)
|
rs886050371
|
|
NM_001376.5(DYNC1H1):c.10335C>G (p.Ala3445=)
|
rs2048532774
|
|
NM_001376.5(DYNC1H1):c.10344G>A (p.Lys3448=)
|
|
|
NM_001376.5(DYNC1H1):c.10346A>G (p.Glu3449Gly)
|
|
|
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400
|
|
NM_001376.5(DYNC1H1):c.10359C>G (p.Val3453=)
|
|
|
NM_001376.5(DYNC1H1):c.10362G>A (p.Leu3454=)
|
|
|
NM_001376.5(DYNC1H1):c.10365C>T (p.Ile3455=)
|
|
|
NM_001376.5(DYNC1H1):c.10381A>G (p.Ile3461Val)
|
|
|
NM_001376.5(DYNC1H1):c.10385A>G (p.Lys3462Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10392C>T (p.Asp3464=)
|
rs2152591828
|
|
NM_001376.5(DYNC1H1):c.10395G>A (p.Leu3465=)
|
|
|
NM_001376.5(DYNC1H1):c.10405G>A (p.Glu3469Lys)
|
|
|
NM_001376.5(DYNC1H1):c.10407G>A (p.Glu3469=)
|
|
|
NM_001376.5(DYNC1H1):c.10413+17T>G
|
|
|
NM_001376.5(DYNC1H1):c.10413+3A>G
|
rs2048533401
|
|
NM_001376.5(DYNC1H1):c.10413+9A>G
|
|
|
NM_001376.5(DYNC1H1):c.10414-14G>A
|
rs2152592099
|
|
NM_001376.5(DYNC1H1):c.10414-15C>T
|
rs2048541064
|
|
NM_001376.5(DYNC1H1):c.10414-18G>A
|
|
|
NM_001376.5(DYNC1H1):c.10414G>A (p.Val3472Ile)
|
|
|
NM_001376.5(DYNC1H1):c.10414G>T (p.Val3472Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1041C>T (p.Ala347=)
|
|
|
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp)
|
rs757725348
|
|
NM_001376.5(DYNC1H1):c.10421G>A (p.Arg3474Gln)
|
rs2152592111
|
|
NM_001376.5(DYNC1H1):c.10437G>A (p.Leu3479=)
|
|
|
NM_001376.5(DYNC1H1):c.10443C>T (p.Ser3481=)
|
|
|
NM_001376.5(DYNC1H1):c.10458T>C (p.Arg3486=)
|
rs1220261271
|
|
NM_001376.5(DYNC1H1):c.10461A>G (p.Glu3487=)
|
|
|
NM_001376.5(DYNC1H1):c.10473A>C (p.Lys3491Asn)
|
|
|
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=)
|
rs201109134
|
|
NM_001376.5(DYNC1H1):c.10488C>A (p.Phe3496Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10488C>G (p.Phe3496Leu)
|
rs2152592159
|
|
NM_001376.5(DYNC1H1):c.10503C>T (p.Ser3501=)
|
|
|
NM_001376.5(DYNC1H1):c.10524C>G (p.Leu3508=)
|
|
|
NM_001376.5(DYNC1H1):c.10524C>T (p.Leu3508=)
|
rs931807854
|
|
NM_001376.5(DYNC1H1):c.10526T>C (p.Leu3509Ser)
|
|
|
NM_001376.5(DYNC1H1):c.10535C>G (p.Ala3512Gly)
|
|
|
NM_001376.5(DYNC1H1):c.10547A>G (p.Tyr3516Cys)
|
|
|
NM_001376.5(DYNC1H1):c.10549G>A (p.Ala3517Thr)
|
rs2152592178
|
|
NM_001376.5(DYNC1H1):c.10558T>C (p.Phe3520Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10564C>T (p.Gln3522Ter)
|
rs2152592188
|
|
NM_001376.5(DYNC1H1):c.10574G>A (p.Arg3525His)
|
rs2152592202
|
|
NM_001376.5(DYNC1H1):c.10613A>G (p.Gln3538Arg)
|
rs2048543572
|
|
NM_001376.5(DYNC1H1):c.10626+12G>A
|
rs751897147
|
|
NM_001376.5(DYNC1H1):c.10626+12G>T
|
|
|
NM_001376.5(DYNC1H1):c.10626+20C>G
|
rs2048543902
|
|
NM_001376.5(DYNC1H1):c.10627-6T>C
|
rs1555411461
|
|
NM_001376.5(DYNC1H1):c.10649C>T (p.Thr3550Met)
|
|
|
NM_001376.5(DYNC1H1):c.10650G>C (p.Thr3550=)
|
|
|
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe)
|
rs1567019533
|
|
NM_001376.5(DYNC1H1):c.10666G>C (p.Ala3556Pro)
|
|
|
NM_001376.5(DYNC1H1):c.10674G>A (p.Glu3558=)
|
|
|
NM_001376.5(DYNC1H1):c.10676G>A (p.Arg3559His)
|
|
|
NM_001376.5(DYNC1H1):c.10680T>G (p.Leu3560=)
|
|
|
NM_001376.5(DYNC1H1):c.1068G>A (p.Ala356=)
|
|
|
NM_001376.5(DYNC1H1):c.1068G>C (p.Ala356=)
|
|
|
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly)
|
rs2048546542
|
|
NM_001376.5(DYNC1H1):c.10694G>C (p.Ser3565Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10695C>G (p.Ser3565Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10698C>G (p.Ser3566=)
|
rs2152592329
|
|
NM_001376.5(DYNC1H1):c.10725A>G (p.Glu3575=)
|
rs2152592336
|
|
NM_001376.5(DYNC1H1):c.10726A>G (p.Asn3576Asp)
|
|
|
NM_001376.5(DYNC1H1):c.10735A>G (p.Met3579Val)
|
rs2152592339
|
|
NM_001376.5(DYNC1H1):c.10736T>C (p.Met3579Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10738C>G (p.Leu3580Val)
|
|
|
NM_001376.5(DYNC1H1):c.10745G>A (p.Arg3582Gln)
|
rs866994746
|
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
NM_001376.5(DYNC1H1):c.10754+14T>C
|
|
|
NM_001376.5(DYNC1H1):c.10754+15G>A
|
|
|
NM_001376.5(DYNC1H1):c.10754+3A>G
|
rs2152592348
|
|
NM_001376.5(DYNC1H1):c.10755-13G>A
|
rs2152593611
|
|
NM_001376.5(DYNC1H1):c.10755-9C>T
|
rs778936862
|
|
NM_001376.5(DYNC1H1):c.10760C>T (p.Pro3587Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10761G>A (p.Pro3587=)
|
|
|
NM_001376.5(DYNC1H1):c.10764G>C (p.Leu3588=)
|
|
|
NM_001376.5(DYNC1H1):c.10768A>C (p.Ile3590Leu)
|
rs2152593630
|
|
NM_001376.5(DYNC1H1):c.10776C>T (p.Pro3592=)
|
|
|
NM_001376.5(DYNC1H1):c.10786G>A (p.Ala3596Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10802T>C (p.Met3601Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10805A>G (p.Asn3602Ser)
|
|
|
NM_001376.5(DYNC1H1):c.10809A>G (p.Glu3603=)
|
rs772324981
|
|
NM_001376.5(DYNC1H1):c.10813A>G (p.Lys3605Glu)
|
|
|
NM_001376.5(DYNC1H1):c.10819C>T (p.Arg3607Cys)
|
rs773374068
|
|
NM_001376.5(DYNC1H1):c.10820G>A (p.Arg3607His)
|
rs1321841274
|
|
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr)
|
rs2048577600
|
|
NM_001376.5(DYNC1H1):c.10832G>C (p.Arg3611Pro)
|
|
|
NM_001376.5(DYNC1H1):c.10842C>T (p.Phe3614=)
|
|
|
NM_001376.5(DYNC1H1):c.10843C>G (p.Leu3615Val)
|
|
|
NM_001376.5(DYNC1H1):c.10850A>G (p.Asp3617Gly)
|
rs2152593675
|
|
NM_001376.5(DYNC1H1):c.10852G>A (p.Ala3618Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10854C>T (p.Ala3618=)
|
|
|
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
|
rs1818621543
|
|
NM_001376.5(DYNC1H1):c.10875T>C (p.Ser3625=)
|
|
|
NM_001376.5(DYNC1H1):c.10878A>T (p.Ala3626=)
|
rs1407178236
|
|
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu)
|
rs141133453
|
|
NM_001376.5(DYNC1H1):c.10888G>A (p.Gly3630Ser)
|
rs2048578300
|
|
NM_001376.5(DYNC1H1):c.1088A>G (p.His363Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10896C>G (p.Pro3632=)
|
rs200903643
|
|
NM_001376.5(DYNC1H1):c.10908+12C>T
|
|
|
NM_001376.5(DYNC1H1):c.10908+13C>T
|
|
|
NM_001376.5(DYNC1H1):c.10908+16T>C
|
|
|
NM_001376.5(DYNC1H1):c.10908+17G>C
|
|
|
NM_001376.5(DYNC1H1):c.10908+20T>C
|
|
|
NM_001376.5(DYNC1H1):c.10908+23_10908+50del
|
|
|
NM_001376.5(DYNC1H1):c.10908+7G>A
|
|
|
NM_001376.5(DYNC1H1):c.10908+9T>C
|
rs2152593706
|
|
NM_001376.5(DYNC1H1):c.10909-14C>T
|
rs2048603403
|
|
NM_001376.5(DYNC1H1):c.10912G>A (p.Val3638Met)
|
|
|
NM_001376.5(DYNC1H1):c.10938C>T (p.Asn3646=)
|
|
|
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala)
|
rs2152594696
|
|
NM_001376.5(DYNC1H1):c.10940C>T (p.Pro3647Leu)
|
rs2152594699
|
|
NM_001376.5(DYNC1H1):c.10952G>A (p.Arg3651His)
|
|
|
NM_001376.5(DYNC1H1):c.10957G>A (p.Val3653Met)
|
rs2152594710
|
|
NM_001376.5(DYNC1H1):c.10958T>C (p.Val3653Ala)
|
rs2152594711
|
|
NM_001376.5(DYNC1H1):c.10965A>C (p.Arg3655=)
|
|
|
NM_001376.5(DYNC1H1):c.10968_10969del (p.Gly3658fs)
|
|
|
NM_001376.5(DYNC1H1):c.10972_10974dup (p.Gly3658_Arg3659insGly)
|
|
|
NM_001376.5(DYNC1H1):c.10974G>C (p.Gly3658=)
|
rs750210648
|
|
NM_001376.5(DYNC1H1):c.10987A>T (p.Thr3663Ser)
|
rs200204286
|
|
NM_001376.5(DYNC1H1):c.10988C>T (p.Thr3663Ile)
|
rs2152594727
|
|
NM_001376.5(DYNC1H1):c.10989T>A (p.Thr3663=)
|
|
|
NM_001376.5(DYNC1H1):c.10993G>A (p.Gly3665Arg)
|
rs2152594732
|
|
NM_001376.5(DYNC1H1):c.11005A>G (p.Ile3669Val)
|
|
|
NM_001376.5(DYNC1H1):c.11006T>C (p.Ile3669Thr)
|
rs2152594739
|
|
NM_001376.5(DYNC1H1):c.11014T>C (p.Ser3672Pro)
|
rs2152594742
|
|
NM_001376.5(DYNC1H1):c.11014T>G (p.Ser3672Ala)
|
|
|
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu)
|
rs2152594747
|
|
NM_001376.5(DYNC1H1):c.11026G>A (p.Val3676Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1102C>T (p.Arg368Ter)
|
|
|
NM_001376.5(DYNC1H1):c.1103G>A (p.Arg368Gln)
|
rs2141272334
|
|
NM_001376.5(DYNC1H1):c.11055+12G>C
|
|
|
NM_001376.5(DYNC1H1):c.11055+22dup
|
rs777865098
|
|
NM_001376.5(DYNC1H1):c.11055+6G>A
|
rs1595629239
|
|
NM_001376.5(DYNC1H1):c.11055+7A>C
|
|
|
NM_001376.5(DYNC1H1):c.11055+9T>C
|
|
|
NM_001376.5(DYNC1H1):c.11056-12C>T
|
|
|
NM_001376.5(DYNC1H1):c.11056-18T>G
|
rs1388035142
|
|
NM_001376.5(DYNC1H1):c.11056-19C>G
|
|
|
NM_001376.5(DYNC1H1):c.11056-19C>T
|
|
|
NM_001376.5(DYNC1H1):c.11058C>T (p.Val3686=)
|
|
|
NM_001376.5(DYNC1H1):c.11082C>G (p.Ser3694=)
|
rs1595629338
|
|
NM_001376.5(DYNC1H1):c.11097A>T (p.Val3699=)
|
rs2152594828
|
|
NM_001376.5(DYNC1H1):c.1110A>C (p.Thr370=)
|
|
|
NM_001376.5(DYNC1H1):c.11152A>G (p.Lys3718Glu)
|
|
|
NM_001376.5(DYNC1H1):c.1116T>C (p.Tyr372=)
|
|
|
NM_001376.5(DYNC1H1):c.11170G>A (p.Val3724Met)
|
|
|
NM_001376.5(DYNC1H1):c.11190T>C (p.Asp3730=)
|
|
|
NM_001376.5(DYNC1H1):c.11206G>A (p.Gly3736Arg)
|
rs2048608382
|
|
NM_001376.5(DYNC1H1):c.11207-11A>G
|
|
|
NM_001376.5(DYNC1H1):c.11207-13T>G
|
|
|
NM_001376.5(DYNC1H1):c.11207-19G>T
|
rs2048610504
|
|
NM_001376.5(DYNC1H1):c.11207-20G>C
|
|
|
NM_001376.5(DYNC1H1):c.11207-6T>C
|
|
|
NM_001376.5(DYNC1H1):c.11218C>T (p.Leu3740Phe)
|
|
|
NM_001376.5(DYNC1H1):c.1121T>A (p.Ile374Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11221C>T (p.Arg3741Cys)
|
rs2048610848
|
|
NM_001376.5(DYNC1H1):c.1122T>A (p.Ile374=)
|
rs777210028
|
|
NM_001376.5(DYNC1H1):c.11250A>G (p.Leu3750=)
|
|
|
NM_001376.5(DYNC1H1):c.11257C>T (p.Leu3753=)
|
|
|
NM_001376.5(DYNC1H1):c.11259G>A (p.Leu3753=)
|
|
|
NM_001376.5(DYNC1H1):c.11262C>T (p.Asn3754=)
|
|
|
NM_001376.5(DYNC1H1):c.11272G>C (p.Gly3758Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11275C>T (p.Arg3759Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11289C>T (p.Asp3763=)
|
|
|
NM_001376.5(DYNC1H1):c.1128G>A (p.Arg376=)
|
rs2141272353
|
|
NM_001376.5(DYNC1H1):c.11290G>A (p.Asp3764Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11294C>T (p.Thr3765Met)
|
|
|
NM_001376.5(DYNC1H1):c.112G>C (p.Val38Leu)
|
rs2141258546
|
|
NM_001376.5(DYNC1H1):c.11305A>C (p.Thr3769Pro)
|
rs2152594953
|
|
NM_001376.5(DYNC1H1):c.1130C>G (p.Ala377Gly)
|
|
|
NM_001376.5(DYNC1H1):c.11313G>A (p.Glu3771=)
|
rs2152594963
|
|
NM_001376.5(DYNC1H1):c.11316C>T (p.Asn3772=)
|
|
|
NM_001376.5(DYNC1H1):c.11317C>T (p.Leu3773=)
|
|
|
NM_001376.5(DYNC1H1):c.1131A>G (p.Ala377=)
|
rs1860614627
|
|
NM_001376.5(DYNC1H1):c.11344A>G (p.Arg3782Gly)
|
rs2152594974
|
|
NM_001376.5(DYNC1H1):c.11345G>A (p.Arg3782Lys)
|
|
|
NM_001376.5(DYNC1H1):c.11346G>A (p.Arg3782=)
|
rs2152594975
|
|
NM_001376.5(DYNC1H1):c.1134G>A (p.Leu378=)
|
|
|
NM_001376.5(DYNC1H1):c.11350G>C (p.Val3784Leu)
|
rs1482714496
|
|
NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)
|
rs1177877033
|
|
NM_001376.5(DYNC1H1):c.11367T>C (p.Ile3789=)
|
|
|
NM_001376.5(DYNC1H1):c.11370C>T (p.Val3790=)
|
rs2152594986
|
|
NM_001376.5(DYNC1H1):c.11371A>G (p.Met3791Val)
|
|
|
NM_001376.5(DYNC1H1):c.11379G>T (p.Glu3793Asp)
|
rs2152594990
|
|
NM_001376.5(DYNC1H1):c.11388C>G (p.Thr3796=)
|
|
|
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
|
rs571126286
|
|
NM_001376.5(DYNC1H1):c.11408C>T (p.Pro3803Leu)
|
rs571126286
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.11409G>T (p.Pro3803=)
|
|
|
NM_001376.5(DYNC1H1):c.11412C>G (p.Leu3804=)
|
|
|
NM_001376.5(DYNC1H1):c.11415C>T (p.Ser3805=)
|
|
|
NM_001376.5(DYNC1H1):c.11418C>T (p.Thr3806=)
|
rs753103486
|
|
NM_001376.5(DYNC1H1):c.11421C>G (p.Ala3807=)
|
rs1218037946
|
|
NM_001376.5(DYNC1H1):c.11421C>T (p.Ala3807=)
|
rs1218037946
|
|
NM_001376.5(DYNC1H1):c.11423GCA[2] (p.Ser3810del)
|
|
|
NM_001376.5(DYNC1H1):c.11430C>T (p.Ser3810=)
|
|
|
NM_001376.5(DYNC1H1):c.11442C>T (p.Thr3814=)
|
|
|
NM_001376.5(DYNC1H1):c.11457G>A (p.Lys3819=)
|
rs756719644
|
|
NM_001376.5(DYNC1H1):c.11460+11T>C
|
rs745475274
|
|
NM_001376.5(DYNC1H1):c.11460+19C>T
|
rs991283375
|
|
NM_001376.5(DYNC1H1):c.11460+1G>T
|
|
|
NM_001376.5(DYNC1H1):c.11460+20A>G
|
rs2152595035
|
|
NM_001376.5(DYNC1H1):c.11460+8C>T
|
|
|
NM_001376.5(DYNC1H1):c.11461-14C>A
|
|
|
NM_001376.5(DYNC1H1):c.11461-15A>G
|
|
|
NM_001376.5(DYNC1H1):c.11461-16C>T
|
|
|
NM_001376.5(DYNC1H1):c.11472G>A (p.Leu3824=)
|
rs775618965
|
|
NM_001376.5(DYNC1H1):c.11474A>G (p.Tyr3825Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11495T>C (p.Phe3832Ser)
|
|
|
NM_001376.5(DYNC1H1):c.1149A>G (p.Ala383=)
|
rs537306885
|
|
NM_001376.5(DYNC1H1):c.1150A>G (p.Ile384Val)
|
|
|
NM_001376.5(DYNC1H1):c.11517C>T (p.Val3839=)
|
|
|
NM_001376.5(DYNC1H1):c.11523C>T (p.Tyr3841=)
|
|
|
NM_001376.5(DYNC1H1):c.11531C>T (p.Pro3844Leu)
|
|
|
NM_001376.5(DYNC1H1):c.11532G>T (p.Pro3844=)
|
rs372511563
|
|
NM_001376.5(DYNC1H1):c.11535C>T (p.Asn3845=)
|
|
|
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)
|
rs754712755
|
|
NM_001376.5(DYNC1H1):c.11545G>A (p.Val3849Ile)
|
|
|
NM_001376.5(DYNC1H1):c.11549C>A (p.Thr3850Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11550C>T (p.Thr3850=)
|
|
|
NM_001376.5(DYNC1H1):c.11553C>T (p.Asp3851=)
|
rs2152595164
|
|
NM_001376.5(DYNC1H1):c.11558C>A (p.Thr3853Lys)
|
|
|
NM_001376.5(DYNC1H1):c.11563C>T (p.Arg3855Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11565C>T (p.Arg3855=)
|
rs1555411851
|
|
NM_001376.5(DYNC1H1):c.11572A>G (p.Ile3858Val)
|
|
|
NM_001376.5(DYNC1H1):c.11573T>C (p.Ile3858Thr)
|
|
|
NM_001376.5(DYNC1H1):c.11575A>G (p.Ile3859Val)
|
|
|
NM_001376.5(DYNC1H1):c.11580A>G (p.Thr3860=)
|
|
|
NM_001376.5(DYNC1H1):c.11581A>G (p.Lys3861Glu)
|
|
|
NM_001376.5(DYNC1H1):c.11589C>A (p.Leu3863=)
|
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
NM_001376.5(DYNC1H1):c.11595+10G>A
|
|
|
NM_001376.5(DYNC1H1):c.11595+10G>C
|
|
|
NM_001376.5(DYNC1H1):c.11595+18G>A
|
|
|
NM_001376.5(DYNC1H1):c.11595+7_11595+10del
|
|
|
NM_001376.5(DYNC1H1):c.11596-12C>T
|
|
|
NM_001376.5(DYNC1H1):c.11596-16C>A
|
rs371990625
|
|
NM_001376.5(DYNC1H1):c.11596-20G>T
|
|
|
NM_001376.5(DYNC1H1):c.11596-9_11596-8del
|
|
|
NM_001376.5(DYNC1H1):c.11600C>T (p.Ala3867Val)
|
|
|
NM_001376.5(DYNC1H1):c.11608C>T (p.Arg3870Ter)
|
rs2152595277
|
|
NM_001376.5(DYNC1H1):c.11617C>T (p.Arg3873Ter)
|
|
|
NM_001376.5(DYNC1H1):c.1161C>T (p.Asp387=)
|
|
|
NM_001376.5(DYNC1H1):c.11640C>T (p.His3880=)
|
|
|
NM_001376.5(DYNC1H1):c.11643T>C (p.Ile3881=)
|
rs2152595289
|
|
NM_001376.5(DYNC1H1):c.11682C>T (p.Gly3894=)
|
|
|
NM_001376.5(DYNC1H1):c.11683A>G (p.Thr3895Ala)
|
rs1326124955
|
|
NM_001376.5(DYNC1H1):c.11683A>T (p.Thr3895Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11690+12C>T
|
rs1405537007
|
|
NM_001376.5(DYNC1H1):c.11690+13A>G
|
|
|
NM_001376.5(DYNC1H1):c.11690+13_11690+14insAA
|
|
|
NM_001376.5(DYNC1H1):c.11690+14C>G
|
rs762481812
|
|
NM_001376.5(DYNC1H1):c.11690+14C>T
|
|
|
NM_001376.5(DYNC1H1):c.11690+15G>A
|
|
|
NM_001376.5(DYNC1H1):c.11690+19_11690+65dup
|
rs2152595337
|
|
NM_001376.5(DYNC1H1):c.11690+3A>T
|
rs1482293429
|
|
NM_001376.5(DYNC1H1):c.11690+5G>A
|
rs1336913296
|
|
NM_001376.5(DYNC1H1):c.11690+9A>G
|
rs764598650
|
|
NM_001376.5(DYNC1H1):c.11691-12C>G
|
|
|
NM_001376.5(DYNC1H1):c.11691-12C>T
|
rs920796743
|
|
NM_001376.5(DYNC1H1):c.11691-14dup
|
|
|
NM_001376.5(DYNC1H1):c.11691-15T>C
|
rs564877505
|
|
NM_001376.5(DYNC1H1):c.11691-16G>T
|
|
|
NM_001376.5(DYNC1H1):c.11691-18C>T
|
|
|
NM_001376.5(DYNC1H1):c.11691-4G>A
|
rs201810550
|
|
NM_001376.5(DYNC1H1):c.11691-5C>T
|
|
|
NM_001376.5(DYNC1H1):c.11691-8C>G
|
|
|
NM_001376.5(DYNC1H1):c.11698A>G (p.Thr3900Ala)
|
rs2048630829
|
|
NM_001376.5(DYNC1H1):c.11703C>T (p.Tyr3901=)
|
|
|
NM_001376.5(DYNC1H1):c.11706T>C (p.Asp3902=)
|
rs2048631022
|
|
NM_001376.5(DYNC1H1):c.11710G>C (p.Glu3904Gln)
|
|
|
NM_001376.5(DYNC1H1):c.11717A>G (p.Gln3906Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11735A>G (p.Asn3912Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11743G>A (p.Val3915Ile)
|
|
|
NM_001376.5(DYNC1H1):c.11745C>T (p.Val3915=)
|
rs2152595623
|
|
NM_001376.5(DYNC1H1):c.11749A>T (p.Ser3917Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11752G>A (p.Ala3918Thr)
|
rs2048631708
|
|
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg)
|
rs141696238
|
|
NM_001376.5(DYNC1H1):c.11766C>T (p.Pro3922=)
|
|
|
NM_001376.5(DYNC1H1):c.11771T>A (p.Ile3924Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11773C>G (p.Gln3925Glu)
|
rs771773704
|
|
NM_001376.5(DYNC1H1):c.11791C>A (p.Gln3931Lys)
|
|
|
NM_001376.5(DYNC1H1):c.11796G>A (p.Ala3932=)
|
|
|
NM_001376.5(DYNC1H1):c.1179C>A (p.Leu393=)
|
rs780971776
|
|
NM_001376.5(DYNC1H1):c.1179C>G (p.Leu393=)
|
rs780971776
|
|
NM_001376.5(DYNC1H1):c.11801C>A (p.Ala3934Glu)
|
rs751780173
|
|
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
|
rs751780173
|
|
NM_001376.5(DYNC1H1):c.11802G>A (p.Ala3934=)
|
rs151307859
|
|
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=)
|
rs151307859
|
|
NM_001376.5(DYNC1H1):c.11802G>T (p.Ala3934=)
|
|
|
NM_001376.5(DYNC1H1):c.11804T>C (p.Val3935Ala)
|
|
|
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)
|
rs780676515
|
|
NM_001376.5(DYNC1H1):c.11806G>T (p.Val3936Leu)
|
rs780676515
|
|
NM_001376.5(DYNC1H1):c.11820C>T (p.Cys3940=)
|
rs2152595687
|
|
NM_001376.5(DYNC1H1):c.11823T>C (p.Leu3941=)
|
|
|
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
|
rs1006593304
|
|
NM_001376.5(DYNC1H1):c.11828C>A (p.Ala3943Glu)
|
|
|
NM_001376.5(DYNC1H1):c.11828C>T (p.Ala3943Val)
|
|
|
NM_001376.5(DYNC1H1):c.11829G>A (p.Ala3943=)
|
|
|
NM_001376.5(DYNC1H1):c.11836G>A (p.Asp3946Asn)
|
rs2152595704
|
|
NM_001376.5(DYNC1H1):c.11851G>A (p.Val3951Ile)
|
|
|
NM_001376.5(DYNC1H1):c.11851G>T (p.Val3951Phe)
|
rs2152595709
|
|
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
|
rs1595630600
|
|
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
|
rs2048633996
|
|
NM_001376.5(DYNC1H1):c.11858C>T (p.Ala3953Val)
|
|
|
NM_001376.5(DYNC1H1):c.1185A>G (p.Val395=)
|
|
|
NM_001376.5(DYNC1H1):c.11865+10C>G
|
|
|
NM_001376.5(DYNC1H1):c.11865+7G>A
|
rs2152595723
|
|
NM_001376.5(DYNC1H1):c.11865+7_11865+9dup
|
|
|
NM_001376.5(DYNC1H1):c.11866-10G>A
|
rs1595630757
|
|
NM_001376.5(DYNC1H1):c.11866-15C>T
|
|
|
NM_001376.5(DYNC1H1):c.11866-18C>T
|
|
|
NM_001376.5(DYNC1H1):c.11866-20T>C
|
|
|
NM_001376.5(DYNC1H1):c.11866-4A>G
|
rs766735095
|
|
NM_001376.5(DYNC1H1):c.11866-6C>T
|
|
|
NM_001376.5(DYNC1H1):c.11866-8C>T
|
|
|
NM_001376.5(DYNC1H1):c.11870T>C (p.Phe3957Ser)
|
rs2048637475
|
|
NM_001376.5(DYNC1H1):c.11874C>T (p.Gly3958=)
|
|
|
NM_001376.5(DYNC1H1):c.11890A>C (p.Ser3964Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11892C>T (p.Ser3964=)
|
rs757869882
|
|
NM_001376.5(DYNC1H1):c.11893T>G (p.Ser3965Ala)
|
|
|
NM_001376.5(DYNC1H1):c.11895C>A (p.Ser3965=)
|
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn)
|
rs770525695
|
|
NM_001376.5(DYNC1H1):c.11917C>T (p.Leu3973Phe)
|
|
|
NM_001376.5(DYNC1H1):c.11928A>G (p.Glu3976=)
|
rs1567021944
|
|
NM_001376.5(DYNC1H1):c.1192A>G (p.Thr398Ala)
|
rs1314946037
|
|
NM_001376.5(DYNC1H1):c.11936C>G (p.Pro3979Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11940A>G (p.Ala3980=)
|
|
|
NM_001376.5(DYNC1H1):c.11941+13G>A
|
rs2152595867
|
|
NM_001376.5(DYNC1H1):c.11941+15G>A
|
|
|
NM_001376.5(DYNC1H1):c.11941+19_11941+20dup
|
rs1295744868
|
|
NM_001376.5(DYNC1H1):c.11941+2T>A
|
rs1595630836
|
|
NM_001376.5(DYNC1H1):c.11941+2T>G
|
|
|
NM_001376.5(DYNC1H1):c.11941+6C>T
|
rs2048638511
|
|
NM_001376.5(DYNC1H1):c.11942-17C>T
|
|
|
NM_001376.5(DYNC1H1):c.11942-18C>T
|
|
|
NM_001376.5(DYNC1H1):c.11942-19C>G
|
rs2152596244
|
|
NM_001376.5(DYNC1H1):c.11942-3C>T
|
rs2152596249
|
|
NM_001376.5(DYNC1H1):c.11942-4dup
|
|
|
NM_001376.5(DYNC1H1):c.11943A>T (p.Thr3981=)
|
|
|
NM_001376.5(DYNC1H1):c.11946C>T (p.Pro3982=)
|
|
|
NM_001376.5(DYNC1H1):c.11950G>C (p.Gly3984Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11955G>A (p.Gln3985=)
|
rs2152596258
|
|
NM_001376.5(DYNC1H1):c.11956G>A (p.Ala3986Thr)
|
|
|
NM_001376.5(DYNC1H1):c.11966G>T (p.Arg3989Leu)
|
|
|
NM_001376.5(DYNC1H1):c.11974C>G (p.Leu3992Val)
|
|
|
NM_001376.5(DYNC1H1):c.11985T>G (p.Ala3995=)
|
|
|
NM_001376.5(DYNC1H1):c.11990G>A (p.Arg3997Gln)
|
|
|
NM_001376.5(DYNC1H1):c.11C>T (p.Pro4Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12007G>A (p.Ala4003Thr)
|
rs2152596279
|
|
NM_001376.5(DYNC1H1):c.12008C>T (p.Ala4003Val)
|
|
|
NM_001376.5(DYNC1H1):c.12009C>T (p.Ala4003=)
|
|
|
NM_001376.5(DYNC1H1):c.1200A>G (p.Lys400=)
|
|
|
NM_001376.5(DYNC1H1):c.12019A>C (p.Met4007Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12024del (p.Phe4008fs)
|
|
|
NM_001376.5(DYNC1H1):c.12025G>A (p.Val4009Ile)
|
rs2152596295
|
|
NM_001376.5(DYNC1H1):c.12028T>C (p.Ser4010Pro)
|
|
|
NM_001376.5(DYNC1H1):c.12029C>T (p.Ser4010Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12038T>A (p.Leu4013His)
|
rs2152596304
|
|
NM_001376.5(DYNC1H1):c.12045G>T (p.Glu4015Asp)
|
|
|
NM_001376.5(DYNC1H1):c.12047C>A (p.Ser4016Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.12053T>C (p.Met4018Thr)
|
rs2048651644
|
|
NM_001376.5(DYNC1H1):c.12057C>T (p.Ser4019=)
|
|
|
NM_001376.5(DYNC1H1):c.12058A>T (p.Ile4020Phe)
|
rs2152596319
|
|
NM_001376.5(DYNC1H1):c.12067C>T (p.Gln4023Ter)
|
|
|
NM_001376.5(DYNC1H1):c.1206G>C (p.Met402Ile)
|
|
|
NM_001376.5(DYNC1H1):c.12070C>G (p.Pro4024Ala)
|
|
|
NM_001376.5(DYNC1H1):c.12071C>T (p.Pro4024Leu)
|
rs879254308
|
|
NM_001376.5(DYNC1H1):c.12076G>A (p.Asp4026Asn)
|
|
|
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)
|
rs1446298826
|
|
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
|
rs1451197374
|
|
NM_001376.5(DYNC1H1):c.120G>A (p.Leu40=)
|
rs1199888248
|
|
NM_001376.5(DYNC1H1):c.12102+17G>T
|
|
|
NM_001376.5(DYNC1H1):c.12102+4A>G
|
rs559197482
|
|
NM_001376.5(DYNC1H1):c.12102+9C>A
|
rs2048652701
|
|
NM_001376.5(DYNC1H1):c.12103-17G>A
|
rs1452779410
|
|
NM_001376.5(DYNC1H1):c.12103-20T>G
|
|
|
NM_001376.5(DYNC1H1):c.12103G>T (p.Val4035Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12108G>A (p.Lys4036=)
|
|
|
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
|
rs1595631704
|
|
NM_001376.5(DYNC1H1):c.12114C>T (p.Asn4038=)
|
rs1595631712
|
|
NM_001376.5(DYNC1H1):c.1213G>A (p.Ala405Thr)
|
|
|
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe)
|
rs2048657881
|
|
NM_001376.5(DYNC1H1):c.12156T>C (p.Ser4052=)
|
rs1060504511
|
|
NM_001376.5(DYNC1H1):c.12161A>G (p.His4054Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12165C>G (p.Val4055=)
|
|
|
NM_001376.5(DYNC1H1):c.12165C>T (p.Val4055=)
|
|
|
NM_001376.5(DYNC1H1):c.1216T>C (p.Tyr406His)
|
|
|
NM_001376.5(DYNC1H1):c.12180C>A (p.Ala4060=)
|
|
|
NM_001376.5(DYNC1H1):c.12180C>G (p.Ala4060=)
|
rs754694929
|
|
NM_001376.5(DYNC1H1):c.12181G>A (p.Glu4061Lys)
|
rs797045530
|
|
NM_001376.5(DYNC1H1):c.12189C>T (p.Asn4063=)
|
|
|
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)
|
rs750249796
|
|
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)
|
rs114906811
|
|
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)
|
rs114906811
|
|
NM_001376.5(DYNC1H1):c.12214+12T>C
|
|
|
NM_001376.5(DYNC1H1):c.12214+13G>A
|
rs1362075028
|
|
NM_001376.5(DYNC1H1):c.12214+18G>A
|
|
|
NM_001376.5(DYNC1H1):c.12214+20T>G
|
rs200763934
|
|
NM_001376.5(DYNC1H1):c.12214+8T>A
|
|
|
NM_001376.5(DYNC1H1):c.12215-10C>T
|
rs371777460
|
|
NM_001376.5(DYNC1H1):c.12215-15G>A
|
|
|
NM_001376.5(DYNC1H1):c.12215-18T>C
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|
NM_001376.5(DYNC1H1):c.12215-7G>A
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|
NM_001376.5(DYNC1H1):c.12215-9C>T
|
rs755152554
|
|
NM_001376.5(DYNC1H1):c.1221A>G (p.Glu407=)
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|
NM_001376.5(DYNC1H1):c.12222A>G (p.Ala4074=)
|
|
|
NM_001376.5(DYNC1H1):c.12223G>A (p.Glu4075Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12232A>C (p.Asn4078His)
|
rs2152596574
|
|
NM_001376.5(DYNC1H1):c.12240A>C (p.Ala4080=)
|
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|
NM_001376.5(DYNC1H1):c.12241G>C (p.Asp4081His)
|
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|
NM_001376.5(DYNC1H1):c.12247G>T (p.Ala4083Ser)
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|
NM_001376.5(DYNC1H1):c.12257C>T (p.Thr4086Ile)
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|
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=)
|
rs1041126638
|
|
NM_001376.5(DYNC1H1):c.12268T>G (p.Ser4090Ala)
|
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|
NM_001376.5(DYNC1H1):c.12269C>T (p.Ser4090Leu)
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|
NM_001376.5(DYNC1H1):c.12275+10T>C
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|
NM_001376.5(DYNC1H1):c.12275+12C>T
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|
NM_001376.5(DYNC1H1):c.12275+12_12275+16dup
|
rs2152596594
|
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NM_001376.5(DYNC1H1):c.12275+18G>A
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|
NM_001376.5(DYNC1H1):c.12275+6C>T
|
rs2152596589
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NM_001376.5(DYNC1H1):c.12275+7C>A
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NM_001376.5(DYNC1H1):c.12275+9G>C
|
rs569139993
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NM_001376.5(DYNC1H1):c.12276-11T>C
|
rs1008735664
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|
NM_001376.5(DYNC1H1):c.12276-18C>G
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NM_001376.5(DYNC1H1):c.12276-20C>T
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NM_001376.5(DYNC1H1):c.12276-3C>T
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NM_001376.5(DYNC1H1):c.12276-5T>C
|
rs1555412076
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NM_001376.5(DYNC1H1):c.12282G>C (p.Val4094=)
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|
NM_001376.5(DYNC1H1):c.12293A>G (p.Asn4098Ser)
|
rs2152596637
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NM_001376.5(DYNC1H1):c.12306C>T (p.Ala4102=)
|
rs2152596640
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NM_001376.5(DYNC1H1):c.12309A>G (p.Pro4103=)
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NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
|
rs573819401
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NM_001376.5(DYNC1H1):c.12317T>A (p.Leu4106Gln)
|
rs2152596641
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NM_001376.5(DYNC1H1):c.12318G>C (p.Leu4106=)
|
rs1595631998
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NM_001376.5(DYNC1H1):c.12322C>G (p.Gln4108Glu)
|
rs2152596646
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NM_001376.5(DYNC1H1):c.1233+10A>G
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NM_001376.5(DYNC1H1):c.1233+8T>G
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NM_001376.5(DYNC1H1):c.12331AAG[1] (p.Lys4112del)
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|
NM_001376.5(DYNC1H1):c.12332A>C (p.Lys4111Thr)
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|
NM_001376.5(DYNC1H1):c.1234-19T>G
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|
NM_001376.5(DYNC1H1):c.12340C>T (p.His4114Tyr)
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|
NM_001376.5(DYNC1H1):c.12341A>G (p.His4114Arg)
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|
NM_001376.5(DYNC1H1):c.12353C>T (p.Pro4118Leu)
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|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
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NM_001376.5(DYNC1H1):c.12355C>A (p.His4119Asn)
|
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|
NM_001376.5(DYNC1H1):c.1237A>T (p.Met413Leu)
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|
NM_001376.5(DYNC1H1):c.12399+10T>G
|
rs1033442950
|
|
NM_001376.5(DYNC1H1):c.12399+12_12399+14del
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|
NM_001376.5(DYNC1H1):c.12399+8_12399+11del
|
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NM_001376.5(DYNC1H1):c.12400-11C>G
|
rs766486300
|
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NM_001376.5(DYNC1H1):c.12400-12G>T
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|
NM_001376.5(DYNC1H1):c.12400-15G>C
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NM_001376.5(DYNC1H1):c.12400-20G>A
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NM_001376.5(DYNC1H1):c.12400-5C>T
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NM_001376.5(DYNC1H1):c.12402G>T (p.Val4134=)
|
rs763056344
|
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NM_001376.5(DYNC1H1):c.12408G>A (p.Val4136=)
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|
NM_001376.5(DYNC1H1):c.12412C>G (p.Leu4138Val)
|
rs144282707
|
|
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)
|
rs770451110
|
|
NM_001376.5(DYNC1H1):c.12427C>T (p.Arg4143Cys)
|
rs1316357429
|
|
NM_001376.5(DYNC1H1):c.12431T>A (p.Ile4144Asn)
|
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|
NM_001376.5(DYNC1H1):c.12432C>T (p.Ile4144=)
|
rs1567022785
|
|
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
|
rs146075696
|
|
NM_001376.5(DYNC1H1):c.12442G>A (p.Glu4148Lys)
|
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|
NM_001376.5(DYNC1H1):c.12449C>T (p.Pro4150Leu)
|
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|
NM_001376.5(DYNC1H1):c.12457G>T (p.Val4153Leu)
|
rs2048667081
|
|
NM_001376.5(DYNC1H1):c.12480G>T (p.Thr4160=)
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|
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile)
|
rs754437318
|
|
NM_001376.5(DYNC1H1):c.12503G>A (p.Arg4168Gln)
|
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|
NM_001376.5(DYNC1H1):c.12507A>G (p.Ile4169Met)
|
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|
NM_001376.5(DYNC1H1):c.12509G>A (p.Cys4170Tyr)
|
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|
NM_001376.5(DYNC1H1):c.12513+2T>C
|
rs2152596793
|
|
NM_001376.5(DYNC1H1):c.12513+3A>T
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|
NM_001376.5(DYNC1H1):c.12513+5G>C
|
rs2048667462
|
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NM_001376.5(DYNC1H1):c.12513+6dup
|
rs1449974341
|
|
NM_001376.5(DYNC1H1):c.12513+7_12513+11del
|
|
|
NM_001376.5(DYNC1H1):c.12513+8C>T
|
rs1277617348
|
|
NM_001376.5(DYNC1H1):c.12513G>A (p.Lys4171=)
|
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|
NM_001376.5(DYNC1H1):c.12514-19T>G
|
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|
NM_001376.5(DYNC1H1):c.12514-2_12518del
|
rs2152597446
|
|
NM_001376.5(DYNC1H1):c.12527G>A (p.Arg4176His)
|
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|
NM_001376.5(DYNC1H1):c.12533G>A (p.Arg4178His)
|
rs2152597456
|
|
NM_001376.5(DYNC1H1):c.12535T>C (p.Leu4179=)
|
rs923832247
|
|
NM_001376.5(DYNC1H1):c.12547C>T (p.Leu4183=)
|
|
|
NM_001376.5(DYNC1H1):c.12552C>A (p.Ala4184=)
|
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|
NM_001376.5(DYNC1H1):c.12561T>C (p.His4187=)
|
rs2152597466
|
|
NM_001376.5(DYNC1H1):c.12563C>T (p.Ala4188Val)
|
|
|
NM_001376.5(DYNC1H1):c.12564G>A (p.Ala4188=)
|
rs370064490
|
|
NM_001376.5(DYNC1H1):c.12583C>T (p.Arg4195Ter)
|
rs2152597488
|
|
NM_001376.5(DYNC1H1):c.12590C>T (p.Ala4197Val)
|
rs2048683611
|
|
NM_001376.5(DYNC1H1):c.12597G>A (p.Leu4199=)
|
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|
NM_001376.5(DYNC1H1):c.12607AAG[1] (p.Lys4204del)
|
rs2152597501
|
|
NM_001376.5(DYNC1H1):c.12612G>A (p.Lys4204=)
|
rs756074780
|
|
NM_001376.5(DYNC1H1):c.12618A>C (p.Glu4206Asp)
|
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|
NM_001376.5(DYNC1H1):c.12621T>C (p.Phe4207=)
|
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|
NM_001376.5(DYNC1H1):c.12624A>G (p.Gly4208=)
|
rs2048683951
|
|
NM_001376.5(DYNC1H1):c.12633C>T (p.Asp4211=)
|
|
|
NM_001376.5(DYNC1H1):c.12648C>T (p.Cys4216=)
|
rs772003695
|
|
NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)
|
|
|
NM_001376.5(DYNC1H1):c.12655G>A (p.Val4219Met)
|
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|
NM_001376.5(DYNC1H1):c.12660C>T (p.Asp4220=)
|
|
|
NM_001376.5(DYNC1H1):c.12663G>T (p.Thr4221=)
|
rs145849008
|
|
NM_001376.5(DYNC1H1):c.12677C>T (p.Thr4226Met)
|
rs776972173
|
|
NM_001376.5(DYNC1H1):c.12678G>A (p.Thr4226=)
|
rs370256973
|
|
NM_001376.5(DYNC1H1):c.12679G>A (p.Ala4227Thr)
|
|
|
NM_001376.5(DYNC1H1):c.12682A>C (p.Lys4228Gln)
|
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|
NM_001376.5(DYNC1H1):c.12684+11G>A
|
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|
NM_001376.5(DYNC1H1):c.12684+14A>T
|
rs200392758
|
|
NM_001376.5(DYNC1H1):c.12684+2C>T
|
rs2152597551
|
|
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
|
rs769593920
|
|
NM_001376.5(DYNC1H1):c.12684+6T>C
|
|
|
NM_001376.5(DYNC1H1):c.12685-10C>A
|
rs2048687645
|
|
NM_001376.5(DYNC1H1):c.12685-3del
|
rs751203379
|
|
NM_001376.5(DYNC1H1):c.12685-9C>T
|
rs1226238990
|
|
NM_001376.5(DYNC1H1):c.12697A>G (p.Ile4233Val)
|
|
|
NM_001376.5(DYNC1H1):c.12714C>T (p.Ile4238=)
|
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|
NM_001376.5(DYNC1H1):c.12721T>C (p.Ser4241Pro)
|
|
|
NM_001376.5(DYNC1H1):c.12744C>T (p.Ala4248=)
|
rs2152597755
|
|
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
|
rs1595633349
|
|
NM_001376.5(DYNC1H1):c.12751A>G (p.Ile4251Val)
|
rs1467036408
|
|
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
|
rs2048688862
|
|
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12762G>A (p.Gly4254=)
|
|
|
NM_001376.5(DYNC1H1):c.12762G>T (p.Gly4254=)
|
rs746049414
|
|
NM_001376.5(DYNC1H1):c.12766G>A (p.Val4256Met)
|
rs376420321
|
|
NM_001376.5(DYNC1H1):c.12775G>A (p.Glu4259Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12797A>C (p.Asn4266Thr)
|
rs760229878
|
|
NM_001376.5(DYNC1H1):c.12800C>T (p.Thr4267Ile)
|
|
|
NM_001376.5(DYNC1H1):c.12807G>A (p.Leu4269=)
|
|
|
NM_001376.5(DYNC1H1):c.12812G>T (p.Arg4271Leu)
|
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|
NM_001376.5(DYNC1H1):c.12825C>T (p.Thr4275=)
|
|
|
NM_001376.5(DYNC1H1):c.12835G>A (p.Asp4279Asn)
|
|
|
NM_001376.5(DYNC1H1):c.12850C>T (p.Leu4284=)
|
|
|
NM_001376.5(DYNC1H1):c.12854C>T (p.Ala4285Val)
|
|
|
NM_001376.5(DYNC1H1):c.12855A>G (p.Ala4285=)
|
|
|
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu)
|
rs1555412242
|
|
NM_001376.5(DYNC1H1):c.12870A>C (p.Gly4290=)
|
|
|
NM_001376.5(DYNC1H1):c.12878A>C (p.Asp4293Ala)
|
|
|
NM_001376.5(DYNC1H1):c.12888G>A (p.Met4296Ile)
|
|
|
NM_001376.5(DYNC1H1):c.12902+18G>C
|
|
|
NM_001376.5(DYNC1H1):c.12902+4T>C
|
|
|
NM_001376.5(DYNC1H1):c.12903-13A>G
|
|
|
NM_001376.5(DYNC1H1):c.12903-15G>A
|
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|
NM_001376.5(DYNC1H1):c.12903G>A (p.Arg4301=)
|
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|
NM_001376.5(DYNC1H1):c.12904C>A (p.Arg4302=)
|
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|
NM_001376.5(DYNC1H1):c.12908A>G (p.Glu4303Gly)
|
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|
NM_001376.5(DYNC1H1):c.12928G>A (p.Glu4310Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12939C>A (p.Pro4313=)
|
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|
NM_001376.5(DYNC1H1):c.12942C>A (p.Asp4314Glu)
|
|
|
NM_001376.5(DYNC1H1):c.12954C>G (p.Pro4318=)
|
rs766459266
|
|
NM_001376.5(DYNC1H1):c.12982G>A (p.Glu4328Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12987_12988del (p.Arg4329fs)
|
rs929395563
|
|
NM_001376.5(DYNC1H1):c.12996T>A (p.Leu4332=)
|
rs752979249
|
|
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=)
|
rs1566997875
|
|
NM_001376.5(DYNC1H1):c.12C>T (p.Pro4=)
|
|
|
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
|
rs2048693948
|
|
NM_001376.5(DYNC1H1):c.13001C>T (p.Thr4334Ile)
|
|
|
NM_001376.5(DYNC1H1):c.13006+12G>A
|
|
|
NM_001376.5(DYNC1H1):c.13006+17C>T
|
|
|
NM_001376.5(DYNC1H1):c.13006+4G>A
|
rs1595633618
|
|
NM_001376.5(DYNC1H1):c.13006+6C>G
|
|
|
NM_001376.5(DYNC1H1):c.13006G>A (p.Gly4336Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13007-13_13007-6del
|
rs1567025161
|
|
NM_001376.5(DYNC1H1):c.13007-16_13007-15del
|
|
|
NM_001376.5(DYNC1H1):c.13007-22_13007-17del
|
|
|
NM_001376.5(DYNC1H1):c.13012G>A (p.Asp4338Asn)
|
|
|
NM_001376.5(DYNC1H1):c.13014C>T (p.Asp4338=)
|
|
|
NM_001376.5(DYNC1H1):c.13030C>A (p.Leu4344Met)
|
rs2152600128
|
|
NM_001376.5(DYNC1H1):c.13030C>T (p.Leu4344=)
|
rs2152600128
|
|
NM_001376.5(DYNC1H1):c.13060G>T (p.Asp4354Tyr)
|
rs1449580462
|
|
NM_001376.5(DYNC1H1):c.13068C>A (p.Ala4356=)
|
|
|
NM_001376.5(DYNC1H1):c.13074A>T (p.Ala4358=)
|
|
|
NM_001376.5(DYNC1H1):c.13076A>G (p.Glu4359Gly)
|
rs1253900818
|
|
NM_001376.5(DYNC1H1):c.13077G>A (p.Glu4359=)
|
|
|
NM_001376.5(DYNC1H1):c.13082AGA[2] (p.Lys4363del)
|
|
|
NM_001376.5(DYNC1H1):c.13085A>G (p.Lys4362Arg)
|
rs2152600168
|
|
NM_001376.5(DYNC1H1):c.13091C>G (p.Thr4364Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13091_13093del (p.Thr4364del)
|
|
|
NM_001376.5(DYNC1H1):c.13091_13093dup (p.Thr4364_Arg4365insThr)
|
|
|
NM_001376.5(DYNC1H1):c.13092G>A (p.Thr4364=)
|
|
|
NM_001376.5(DYNC1H1):c.13100A>C (p.Asp4367Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13106C>T (p.Thr4369Met)
|
rs1290022379
|
|
NM_001376.5(DYNC1H1):c.13118G>A (p.Arg4373His)
|
rs1366928812
|
|
NM_001376.5(DYNC1H1):c.1311C>T (p.Ile437=)
|
|
|
NM_001376.5(DYNC1H1):c.13123G>A (p.Ala4375Thr)
|
rs1472613465
|
|
NM_001376.5(DYNC1H1):c.13125C>T (p.Ala4375=)
|
|
|
NM_001376.5(DYNC1H1):c.13133G>A (p.Arg4378Gln)
|
|
|
NM_001376.5(DYNC1H1):c.13137A>G (p.Thr4379=)
|
|
|
NM_001376.5(DYNC1H1):c.13137A>T (p.Thr4379=)
|
|
|
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr)
|
rs1567025279
|
|
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)
|
rs1206639344
|
|
NM_001376.5(DYNC1H1):c.13168C>G (p.Leu4390Val)
|
rs2048750450
|
|
NM_001376.5(DYNC1H1):c.13173C>T (p.Ile4391=)
|
|
|
NM_001376.5(DYNC1H1):c.13176C>T (p.Pro4392=)
|
rs766805479
|
|
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala)
|
rs1555412552
|
|
NM_001376.5(DYNC1H1):c.13182G>T (p.Thr4394=)
|
|
|
NM_001376.5(DYNC1H1):c.13189C>T (p.His4397Tyr)
|
rs2152600243
|
|
NM_001376.5(DYNC1H1):c.13194C>G (p.Leu4398=)
|
|
|
NM_001376.5(DYNC1H1):c.13198C>T (p.Arg4400Cys)
|
rs1455844874
|
|
NM_001376.5(DYNC1H1):c.13199G>A (p.Arg4400His)
|
rs879254217
|
|
NM_001376.5(DYNC1H1):c.13202C>A (p.Thr4401Asn)
|
|
|
NM_001376.5(DYNC1H1):c.13203C>G (p.Thr4401=)
|
|
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242
|
|
NM_001376.5(DYNC1H1):c.13207G>C (p.Glu4403Gln)
|
|
|
NM_001376.5(DYNC1H1):c.13209G>A (p.Glu4403=)
|
rs2152600255
|
|
NM_001376.5(DYNC1H1):c.13216A>C (p.Lys4406Gln)
|
rs2048750992
|
|
NM_001376.5(DYNC1H1):c.13218+17C>A
|
rs779202254
|
|
NM_001376.5(DYNC1H1):c.13218+17C>T
|
rs779202254
|
|
NM_001376.5(DYNC1H1):c.13218+18G>A
|
rs745843852
|
|
NM_001376.5(DYNC1H1):c.13218+18G>C
|
rs745843852
|
|
NM_001376.5(DYNC1H1):c.13218+20G>A
|
|
|
NM_001376.5(DYNC1H1):c.13218+4G>C
|
|
|
NM_001376.5(DYNC1H1):c.13218+5C>T
|
|
|
NM_001376.5(DYNC1H1):c.13218+7G>A
|
|
|
NM_001376.5(DYNC1H1):c.13218+8G>A
|
|
|
NM_001376.5(DYNC1H1):c.13219-10A>G
|
rs2152600473
|
|
NM_001376.5(DYNC1H1):c.13219-12G>A
|
|
|
NM_001376.5(DYNC1H1):c.13219-8G>C
|
rs370812794
|
|
NM_001376.5(DYNC1H1):c.13219-8G>T
|
|
|
NM_001376.5(DYNC1H1):c.13224T>G (p.Pro4408=)
|
|
|
NM_001376.5(DYNC1H1):c.13227G>T (p.Leu4409Phe)
|
|
|
NM_001376.5(DYNC1H1):c.13256T>C (p.Met4419Thr)
|
|
|
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile)
|
rs1555412618
|
|
NM_001376.5(DYNC1H1):c.13265A>C (p.Lys4422Thr)
|
rs1463058227
|
|
NM_001376.5(DYNC1H1):c.13266G>C (p.Lys4422Asn)
|
rs1291353621
|
|
NM_001376.5(DYNC1H1):c.13269G>A (p.Leu4423=)
|
|
|
NM_001376.5(DYNC1H1):c.13274A>G (p.Gln4425Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13282C>G (p.Arg4428Gly)
|
|
|
NM_001376.5(DYNC1H1):c.13283G>A (p.Arg4428His)
|
|
|
NM_001376.5(DYNC1H1):c.13285C>G (p.Gln4429Glu)
|
|
|
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly)
|
rs2048759187
|
|
NM_001376.5(DYNC1H1):c.13304T>C (p.Val4435Ala)
|
rs1469263725
|
|
NM_001376.5(DYNC1H1):c.13309G>C (p.Val4437Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13321AAG[2] (p.Lys4443del)
|
|
|
NM_001376.5(DYNC1H1):c.13345C>T (p.Arg4449Cys)
|
rs2048759812
|
|
NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)
|
rs777866900
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13350G>T (p.Thr4450=)
|
|
|
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
|
rs140033479
|
|
NM_001376.5(DYNC1H1):c.13360G>A (p.Glu4454Lys)
|
rs1064797194
|
|
NM_001376.5(DYNC1H1):c.13362G>C (p.Glu4454Asp)
|
|
|
NM_001376.5(DYNC1H1):c.13365A>G (p.Leu4455=)
|
|
|
NM_001376.5(DYNC1H1):c.13372+15G>C
|
rs200190286
|
|
NM_001376.5(DYNC1H1):c.13372+5G>A
|
|
|
NM_001376.5(DYNC1H1):c.13372+6T>G
|
|
|
NM_001376.5(DYNC1H1):c.13372+8_13372+23dup
|
|
|
NM_001376.5(DYNC1H1):c.13373-11C>T
|
|
|
NM_001376.5(DYNC1H1):c.13373-14T>C
|
|
|
NM_001376.5(DYNC1H1):c.13373-18TG[2]
|
|
|
NM_001376.5(DYNC1H1):c.13373-3C>G
|
rs1567025991
|
|
NM_001376.5(DYNC1H1):c.13377C>G (p.Ile4459Met)
|
|
|
NM_001376.5(DYNC1H1):c.13384C>T (p.Arg4462Trp)
|
rs879253914
|
|
NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)
|
rs1245576701
|
|
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)
|
rs17541692
|
|
NM_001376.5(DYNC1H1):c.13431G>A (p.Gln4477=)
|
|
|
NM_001376.5(DYNC1H1):c.13431G>T (p.Gln4477His)
|
|
|
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn)
|
rs1243385324
|
|
NM_001376.5(DYNC1H1):c.13452G>C (p.Glu4484Asp)
|
rs2048774638
|
|
NM_001376.5(DYNC1H1):c.13474A>C (p.Ile4492Leu)
|
rs2048775017
|
|
NM_001376.5(DYNC1H1):c.13474A>G (p.Ile4492Val)
|
rs2048775017
|
|
NM_001376.5(DYNC1H1):c.1347G>A (p.Val449=)
|
|
|
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr)
|
rs1567026040
|
|
NM_001376.5(DYNC1H1):c.13488T>C (p.Ala4496=)
|
|
|
NM_001376.5(DYNC1H1):c.13493C>T (p.Ser4498Phe)
|
|
|
NM_001376.5(DYNC1H1):c.13495G>A (p.Gly4499Ser)
|
rs2048775221
|
|
NM_001376.5(DYNC1H1):c.13495G>C (p.Gly4499Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13497T>A (p.Gly4499=)
|
rs1555412704
|
|
NM_001376.5(DYNC1H1):c.13500C>T (p.Gly4500=)
|
|
|
NM_001376.5(DYNC1H1):c.13508_13515+7dup
|
|
|
NM_001376.5(DYNC1H1):c.13509G>A (p.Glu4503=)
|
|
|
NM_001376.5(DYNC1H1):c.13512A>G (p.Leu4504=)
|
rs557163093
|
|
NM_001376.5(DYNC1H1):c.13512A>T (p.Leu4504=)
|
rs557163093
|
|
NM_001376.5(DYNC1H1):c.13515+13C>T
|
rs2152601092
|
|
NM_001376.5(DYNC1H1):c.13515+17C>G
|
|
|
NM_001376.5(DYNC1H1):c.13515+19dup
|
rs774180410
|
|
NM_001376.5(DYNC1H1):c.13515+2T>C
|
rs2152601082
|
|
NM_001376.5(DYNC1H1):c.13515+3G>A
|
rs2048775565
|
|
NM_001376.5(DYNC1H1):c.13516-10C>A
|
rs1595637656
|
|
NM_001376.5(DYNC1H1):c.13516-10C>G
|
|
|
NM_001376.5(DYNC1H1):c.13516-13C>G
|
rs2152601181
|
|
NM_001376.5(DYNC1H1):c.13516-14G>A
|
rs768543264
|
|
NM_001376.5(DYNC1H1):c.13516-2A>G
|
|
|
NM_001376.5(DYNC1H1):c.13516-5C>T
|
|
|
NM_001376.5(DYNC1H1):c.13516-7dup
|
|
|
NM_001376.5(DYNC1H1):c.13518del (p.Asn4506fs)
|
|
|
NM_001376.5(DYNC1H1):c.13523A>G (p.His4508Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13525G>A (p.Val4509Met)
|
|
|
NM_001376.5(DYNC1H1):c.13530C>T (p.Cys4510=)
|
|
|
NM_001376.5(DYNC1H1):c.13545C>T (p.Phe4515=)
|
|
|
NM_001376.5(DYNC1H1):c.13546G>A (p.Val4516Met)
|
rs1158295938
|
|
NM_001376.5(DYNC1H1):c.13548G>C (p.Val4516=)
|
rs1555412737
|
|
NM_001376.5(DYNC1H1):c.13557G>T (p.Ala4519=)
|
|
|
NM_001376.5(DYNC1H1):c.13560C>T (p.Tyr4520=)
|
|
|
NM_001376.5(DYNC1H1):c.13561A>G (p.Ile4521Val)
|
|
|
NM_001376.5(DYNC1H1):c.1358A>G (p.Asn453Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13590G>C (p.Gln4530His)
|
|
|
NM_001376.5(DYNC1H1):c.1359C>A (p.Asn453Lys)
|
rs2141272545
|
|
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
|
rs2048779548
|
|
NM_001376.5(DYNC1H1):c.13623G>A (p.Leu4541=)
|
rs778080828
|
|
NM_001376.5(DYNC1H1):c.13625A>G (p.Glu4542Gly)
|
|
|
NM_001376.5(DYNC1H1):c.13633G>A (p.Val4545Ile)
|
|
|
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
|
rs2048780089
|
|
NM_001376.5(DYNC1H1):c.13643C>T (p.Ser4548Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13644A>G (p.Ser4548=)
|
rs2152601249
|
|
NM_001376.5(DYNC1H1):c.13649G>A (p.Gly4550Asp)
|
rs2152601253
|
|
NM_001376.5(DYNC1H1):c.13656C>T (p.Thr4552=)
|
|
|
NM_001376.5(DYNC1H1):c.13657C>T (p.Leu4553Phe)
|
rs997929938
|
|
NM_001376.5(DYNC1H1):c.13662C>T (p.Asp4554=)
|
|
|
NM_001376.5(DYNC1H1):c.13665_13668del (p.Cys4556fs)
|
|
|
NM_001376.5(DYNC1H1):c.13670G>C (p.Ser4557Thr)
|
rs2152601267
|
|
NM_001376.5(DYNC1H1):c.13684+12C>G
|
|
|
NM_001376.5(DYNC1H1):c.13684+12C>T
|
|
|
NM_001376.5(DYNC1H1):c.13684+16C>A
|
|
|
NM_001376.5(DYNC1H1):c.13684+16_13684+17del
|
rs767257826
|
|
NM_001376.5(DYNC1H1):c.13684+9A>G
|
rs1475798561
|
|
NM_001376.5(DYNC1H1):c.13684G>A (p.Gly4562Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13685-14C>T
|
|
|
NM_001376.5(DYNC1H1):c.13685-5C>T
|
|
|
NM_001376.5(DYNC1H1):c.13685-9G>C
|
rs774759609
|
|
NM_001376.5(DYNC1H1):c.13698A>G (p.Gln4566=)
|
|
|
NM_001376.5(DYNC1H1):c.136G>A (p.Gly46Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.13707G>T (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.13709G>A (p.Cys4570Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.13710C>T (p.Cys4570=)
|
|
|
NM_001376.5(DYNC1H1):c.13710CAA[3] (p.Asn4573del)
|
rs1013209915
|
|
NM_001376.5(DYNC1H1):c.13712A>G (p.Asn4571Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13714A>C (p.Asn4572His)
|
|
|
NM_001376.5(DYNC1H1):c.13715A>G (p.Asn4572Ser)
|
rs2152601484
|
|
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys)
|
rs886050377
|
|
NM_001376.5(DYNC1H1):c.13730T>C (p.Leu4577Pro)
|
rs1567026417
|
|
NM_001376.5(DYNC1H1):c.13730T>G (p.Leu4577Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13734C>A (p.Ser4578=)
|
rs201665825
|
|
NM_001376.5(DYNC1H1):c.13735A>G (p.Asn4579Asp)
|
|
|
NM_001376.5(DYNC1H1):c.13736A>G (p.Asn4579Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr)
|
rs2048787027
|
|
NM_001376.5(DYNC1H1):c.13743C>T (p.Ile4581=)
|
|
|
NM_001376.5(DYNC1H1):c.13747A>G (p.Thr4583Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13751C>T (p.Ala4584Val)
|
|
|
NM_001376.5(DYNC1H1):c.13752C>T (p.Ala4584=)
|
|
|
NM_001376.5(DYNC1H1):c.13753C>T (p.Leu4585Phe)
|
|
|
NM_001376.5(DYNC1H1):c.13759C>T (p.Leu4587=)
|
|
|
NM_001376.5(DYNC1H1):c.13761G>A (p.Leu4587=)
|
rs879127737
|
|
NM_001376.5(DYNC1H1):c.13763C>T (p.Thr4588Met)
|
|
|
NM_001376.5(DYNC1H1):c.13765C>G (p.Gln4589Glu)
|
rs2152601525
|
|
NM_001376.5(DYNC1H1):c.13766A>G (p.Gln4589Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13772G>A (p.Arg4591His)
|
rs544530887
|
|
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile)
|
rs750566844
|
|
NM_001376.5(DYNC1H1):c.13784A>G (p.Gln4595Arg)
|
rs2048787955
|
|
NM_001376.5(DYNC1H1):c.13787C>G (p.Thr4596Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13796A>C (p.Glu4599Ala)
|
rs2152601545
|
|
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln)
|
rs1060502205
|
|
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val)
|
rs1566991081
|
|
NM_001376.5(DYNC1H1):c.13801_13802delinsGC (p.Lys4601Ala)
|
rs2048788225
|
|
NM_001376.5(DYNC1H1):c.13803G>C (p.Lys4601Asn)
|
rs2048788302
|
|
NM_001376.5(DYNC1H1):c.13805C>A (p.Ala4602Asp)
|
|
|
NM_001376.5(DYNC1H1):c.13812+12C>T
|
|
|
NM_001376.5(DYNC1H1):c.13812+17T>C
|
|
|
NM_001376.5(DYNC1H1):c.13812+9dup
|
rs1413010265
|
|
NM_001376.5(DYNC1H1):c.13813-15C>G
|
|
|
NM_001376.5(DYNC1H1):c.13817C>T (p.Thr4606Ile)
|
|
|
NM_001376.5(DYNC1H1):c.13819T>C (p.Leu4607=)
|
|
|
NM_001376.5(DYNC1H1):c.13836C>T (p.Asn4612=)
|
|
|
NM_001376.5(DYNC1H1):c.13842C>T (p.Thr4614=)
|
|
|
NM_001376.5(DYNC1H1):c.1384C>T (p.Arg462Cys)
|
|
|
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val)
|
rs879254286
|
|
NM_001376.5(DYNC1H1):c.1385G>A (p.Arg462His)
|
rs202204063
|
|
NM_001376.5(DYNC1H1):c.13863C>A (p.Thr4621=)
|
rs2048794053
|
|
NM_001376.5(DYNC1H1):c.13863C>T (p.Thr4621=)
|
rs2048794053
|
|
NM_001376.5(DYNC1H1):c.13864G>A (p.Val4622Met)
|
|
|
NM_001376.5(DYNC1H1):c.13872C>G (p.Phe4624Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13872C>T (p.Phe4624=)
|
rs375918532
|
|
NM_001376.5(DYNC1H1):c.13874A>C (p.Glu4625Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13882A>G (p.Thr4628Ala)
|
rs2048794686
|
|
NM_001376.5(DYNC1H1):c.13884A>C (p.Thr4628=)
|
|
|
NM_001376.5(DYNC1H1):c.13885A>G (p.Lys4629Glu)
|
|
|
NM_001376.5(DYNC1H1):c.13887GGA[1] (p.Glu4630del)
|
rs2152601717
|
|
NM_001376.5(DYNC1H1):c.13895C>T (p.Pro4632Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13906T>C (p.Tyr4636His)
|
|
|
NM_001376.5(DYNC1H1):c.13909G>A (p.Glu4637Lys)
|
|
|
NM_001376.5(DYNC1H1):c.1390G>C (p.Asp464His)
|
|
|
NM_001376.5(DYNC1H1):c.13921G>A (p.Ala4641Thr)
|
|
|
NM_001376.5(DYNC1H1):c.13925T>C (p.Val4642Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13927T>C (p.Leu4643=)
|
|
|
NM_001376.5(DYNC1H1):c.13932C>T (p.Cys4644=)
|
rs2152601755
|
|
NM_001376.5(DYNC1H1):c.13938G>A (p.Glu4646=)
|
rs1595638451
|
|
NM_001376.5(DYNC1H1):c.13939T>G (p.Ter4647Glu)
|
|
|
NM_001376.5(DYNC1H1):c.13940A>G (p.Ter4647=)
|
rs1425934204
|
|
NM_001376.5(DYNC1H1):c.13941A>G (p.Ter4647=)
|
|
|
NM_001376.5(DYNC1H1):c.1395G>A (p.Gln465=)
|
|
|
NM_001376.5(DYNC1H1):c.1395G>C (p.Gln465His)
|
rs747183743
|
|
NM_001376.5(DYNC1H1):c.1396A>G (p.Met466Val)
|
rs2141272574
|
|
NM_001376.5(DYNC1H1):c.1407T>C (p.Phe469=)
|
|
|
NM_001376.5(DYNC1H1):c.1407T>G (p.Phe469Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1415A>T (p.Gln472Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1417C>T (p.His473Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.1425G>A (p.Gln475=)
|
rs2141272598
|
|
NM_001376.5(DYNC1H1):c.142G>A (p.Ala48Thr)
|
|
|
NM_001376.5(DYNC1H1):c.1441G>A (p.Val481Ile)
|
rs770305875
|
|
NM_001376.5(DYNC1H1):c.1441G>C (p.Val481Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp)
|
rs776102509
|
|
NM_001376.5(DYNC1H1):c.1443C>T (p.Val481=)
|
|
|
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys)
|
rs879254275
|
|
NM_001376.5(DYNC1H1):c.1455G>A (p.Arg485=)
|
rs2141272613
|
|
NM_001376.5(DYNC1H1):c.1458A>G (p.Pro486=)
|
|
|
NM_001376.5(DYNC1H1):c.1460A>C (p.Gln487Pro)
|
rs2141272621
|
|
NM_001376.5(DYNC1H1):c.1461+11C>A
|
|
|
NM_001376.5(DYNC1H1):c.1461+5G>A
|
rs2047892846
|
|
NM_001376.5(DYNC1H1):c.1461+5G>T
|
rs2047892846
|
|
NM_001376.5(DYNC1H1):c.1462-11T>C
|
|
|
NM_001376.5(DYNC1H1):c.1462-17A>C
|
rs746091764
|
|
NM_001376.5(DYNC1H1):c.1462-17A>G
|
|
|
NM_001376.5(DYNC1H1):c.1462-20T>G
|
|
|
NM_001376.5(DYNC1H1):c.1462-9C>G
|
|
|
NM_001376.5(DYNC1H1):c.1462G>A (p.Val488Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1473T>G (p.Val491=)
|
rs2141274508
|
|
NM_001376.5(DYNC1H1):c.1474G>A (p.Ala492Thr)
|
rs75648834
|
|
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys)
|
rs1298953581
|
|
NM_001376.5(DYNC1H1):c.147G>A (p.Pro49=)
|
|
|
NM_001376.5(DYNC1H1):c.1493_1494insCTC (p.Glu498delinsAspSer)
|
|
|
NM_001376.5(DYNC1H1):c.1496T>A (p.Val499Asp)
|
|
|
NM_001376.5(DYNC1H1):c.1499C>T (p.Pro500Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1506C>T (p.Pro502=)
|
rs1366689433
|
|
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu)
|
rs1060502209
|
|
NM_001376.5(DYNC1H1):c.150C>G (p.Ala50=)
|
rs372404851
|
|
NM_001376.5(DYNC1H1):c.1512T>C (p.Asp504=)
|
|
|
NM_001376.5(DYNC1H1):c.151G>T (p.Ala51Ser)
|
|
|
NM_001376.5(DYNC1H1):c.152C>T (p.Ala51Val)
|
|
|
NM_001376.5(DYNC1H1):c.1533C>G (p.Leu511=)
|
|
|
NM_001376.5(DYNC1H1):c.1533C>T (p.Leu511=)
|
|
|
NM_001376.5(DYNC1H1):c.1547A>T (p.Asp516Val)
|
|
|
NM_001376.5(DYNC1H1):c.154C>T (p.Leu52=)
|
rs2141258601
|
|
NM_001376.5(DYNC1H1):c.1550C>G (p.Ala517Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1563G>A (p.Glu521=)
|
|
|
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
|
rs1595600778
|
|
NM_001376.5(DYNC1H1):c.157G>A (p.Glu53Lys)
|
|
|
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile)
|
rs1302970492
|
|
NM_001376.5(DYNC1H1):c.15G>A (p.Gly5=)
|
|
|
NM_001376.5(DYNC1H1):c.1610A>G (p.Asp537Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1617C>T (p.Ser539=)
|
|
|
NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])
|
|
|
NM_001376.5(DYNC1H1):c.162G>C (p.Ala54=)
|
|
|
NM_001376.5(DYNC1H1):c.1632A>G (p.Glu544=)
|
|
|
NM_001376.5(DYNC1H1):c.1633G>A (p.Ala545Thr)
|
rs2047930968
|
|
NM_001376.5(DYNC1H1):c.1647T>C (p.Ala549=)
|
|
|
NM_001376.5(DYNC1H1):c.1659C>T (p.Tyr553=)
|
rs763702892
|
|
NM_001376.5(DYNC1H1):c.1660G>A (p.Asp554Asn)
|
rs1003040427
|
|
NM_001376.5(DYNC1H1):c.1671C>T (p.Ile557=)
|
|
|
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
|
rs2047931446
|
|
NM_001376.5(DYNC1H1):c.1680G>A (p.Val560=)
|
|
|
NM_001376.5(DYNC1H1):c.1687C>A (p.Arg563=)
|
rs936651034
|
|
NM_001376.5(DYNC1H1):c.1688G>A (p.Arg563Gln)
|
|
|
NM_001376.5(DYNC1H1):c.1689G>A (p.Arg563=)
|
|
|
NM_001376.5(DYNC1H1):c.1696G>A (p.Ala566Thr)
|
|
|
NM_001376.5(DYNC1H1):c.1697C>G (p.Ala566Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1699C>T (p.Arg567Cys)
|
|
|
NM_001376.5(DYNC1H1):c.169GAG[1] (p.Glu58del)
|
rs2141258625
|
|
NM_001376.5(DYNC1H1):c.1705C>T (p.Arg569Trp)
|
|
|
NM_001376.5(DYNC1H1):c.1709A>T (p.Asp570Val)
|
rs2141274653
|
|
NM_001376.5(DYNC1H1):c.170A>G (p.Glu57Gly)
|
rs2047646207
|
|
NM_001376.5(DYNC1H1):c.171G>A (p.Glu57=)
|
|
|
NM_001376.5(DYNC1H1):c.1730A>T (p.Asn577Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1737C>T (p.Asn579=)
|
|
|
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala)
|
rs2141274671
|
|
NM_001376.5(DYNC1H1):c.1749G>A (p.Arg583=)
|
rs2141274677
|
|
NM_001376.5(DYNC1H1):c.174G>A (p.Glu58=)
|
rs2141258631
|
|
NM_001376.5(DYNC1H1):c.1754T>C (p.Phe585Ser)
|
rs2141274680
|
|
NM_001376.5(DYNC1H1):c.1756T>C (p.Ser586Pro)
|
|
|
NM_001376.5(DYNC1H1):c.1758C>G (p.Ser586=)
|
|
|
NM_001376.5(DYNC1H1):c.1771C>T (p.Leu591=)
|
|
|
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)
|
rs2047932647
|
|
NM_001376.5(DYNC1H1):c.1782G>A (p.Arg594=)
|
rs775528166
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu)
|
rs879254085
|
|
NM_001376.5(DYNC1H1):c.17G>C (p.Gly6Ala)
|
rs2047642596
|
|
NM_001376.5(DYNC1H1):c.17_18insTGG (p.Gly9_Glu10insGly)
|
|
|
NM_001376.5(DYNC1H1):c.1804C>T (p.Arg602Cys)
|
|
|
NM_001376.5(DYNC1H1):c.1817C>T (p.Thr606Ile)
|
rs1566999079
|
|
NM_001376.5(DYNC1H1):c.1821G>A (p.Gln607=)
|
rs2141274723
|
|
NM_001376.5(DYNC1H1):c.1825A>G (p.Ile609Val)
|
|
|
NM_001376.5(DYNC1H1):c.1826T>G (p.Ile609Ser)
|
rs2047933165
|
|
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met)
|
rs760971556
|
|
NM_001376.5(DYNC1H1):c.1832G>A (p.Arg611His)
|
rs907022997
|
|
NM_001376.5(DYNC1H1):c.1833C>T (p.Arg611=)
|
|
|
NM_001376.5(DYNC1H1):c.1836G>A (p.Val612=)
|
|
|
NM_001376.5(DYNC1H1):c.183C>A (p.Ala61=)
|
rs554497564
|
|
NM_001376.5(DYNC1H1):c.183C>T (p.Ala61=)
|
rs554497564
|
|
NM_001376.5(DYNC1H1):c.1847T>C (p.Ile616Thr)
|
rs1002760127
|
|
NM_001376.5(DYNC1H1):c.184C>G (p.Leu62Val)
|
|
|
NM_001376.5(DYNC1H1):c.184C>T (p.Leu62=)
|
|
|
NM_001376.5(DYNC1H1):c.1852T>C (p.Ser618Pro)
|
rs2141274736
|
|
NM_001376.5(DYNC1H1):c.186G>A (p.Leu62=)
|
|
|
NM_001376.5(DYNC1H1):c.1873G>A (p.Val625Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1875C>G (p.Val625=)
|
rs753183437
|
|
NM_001376.5(DYNC1H1):c.1896T>G (p.Ala632=)
|
|
|
NM_001376.5(DYNC1H1):c.189G>A (p.Glu63=)
|
|
|
NM_001376.5(DYNC1H1):c.1920C>T (p.Asp640=)
|
rs2141274780
|
|
NM_001376.5(DYNC1H1):c.1923G>A (p.Leu641=)
|
rs2141274783
|
|
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=)
|
rs1555408339
|
|
NM_001376.5(DYNC1H1):c.1930G>T (p.Val644Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1963G>A (p.Asp655Asn)
|
|
|
NM_001376.5(DYNC1H1):c.1965C>T (p.Asp655=)
|
|
|
NM_001376.5(DYNC1H1):c.1972C>T (p.Leu658=)
|
rs2141274820
|
|
NM_001376.5(DYNC1H1):c.1983C>T (p.Tyr661=)
|
|
|
NM_001376.5(DYNC1H1):c.1989G>A (p.Lys663=)
|
|
|
NM_001376.5(DYNC1H1):c.198C>G (p.Arg66=)
|
|
|
NM_001376.5(DYNC1H1):c.1990C>T (p.Arg664Trp)
|
rs2141274831
|
|
NM_001376.5(DYNC1H1):c.1991G>A (p.Arg664Gln)
|
rs2047934872
|
|
NM_001376.5(DYNC1H1):c.1992G>A (p.Arg664=)
|
rs1158129941
|
|
NM_001376.5(DYNC1H1):c.1995G>A (p.Val665=)
|
|
|
NM_001376.5(DYNC1H1):c.1996G>A (p.Glu666Lys)
|
rs2141274838
|
|
NM_001376.5(DYNC1H1):c.1999G>A (p.Asp667Asn)
|
|
|
NM_001376.5(DYNC1H1):c.2002G>A (p.Val668Ile)
|
rs1406149790
|
|
NM_001376.5(DYNC1H1):c.200A>G (p.Lys67Arg)
|
rs776102549
|
|
NM_001376.5(DYNC1H1):c.2010C>T (p.Gly670=)
|
rs372736615
|
|
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu)
|
rs387906742
|
|
NM_001376.5(DYNC1H1):c.2013G>A (p.Lys671=)
|
rs2141274855
|
|
NM_001376.5(DYNC1H1):c.2028C>T (p.His676=)
|
rs758895614
|
|
NM_001376.5(DYNC1H1):c.2031G>T (p.Val677=)
|
rs2047935608
|
|
NM_001376.5(DYNC1H1):c.2032G>A (p.Glu678Lys)
|
|
|
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=)
|
rs1555408347
|
|
NM_001376.5(DYNC1H1):c.2043G>A (p.Lys681=)
|
rs1050408910
|
|
NM_001376.5(DYNC1H1):c.2046G>C (p.Leu682=)
|
|
|
NM_001376.5(DYNC1H1):c.204C>T (p.Phe68=)
|
rs2141258669
|
|
NM_001376.5(DYNC1H1):c.2069G>A (p.Arg690His)
|
|
|
NM_001376.5(DYNC1H1):c.2071A>G (p.Met691Val)
|
|
|
NM_001376.5(DYNC1H1):c.207T>G (p.Leu69=)
|
|
|
NM_001376.5(DYNC1H1):c.2080A>C (p.Asn694His)
|
rs2141274886
|
|
NM_001376.5(DYNC1H1):c.2083A>G (p.Thr695Ala)
|
rs2141274888
|
|
NM_001376.5(DYNC1H1):c.2085G>A (p.Thr695=)
|
rs755760078
|
|
NM_001376.5(DYNC1H1):c.2090A>C (p.Glu697Ala)
|
|
|
NM_001376.5(DYNC1H1):c.2097T>C (p.Phe699=)
|
rs2141274897
|
|
NM_001376.5(DYNC1H1):c.2100T>C (p.Asp700=)
|
rs2141274899
|
|
NM_001376.5(DYNC1H1):c.2102A>C (p.Asp701Ala)
|
|
|
NM_001376.5(DYNC1H1):c.210G>A (p.Ser70=)
|
rs2141258672
|
|
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=)
|
rs1555408353
|
|
NM_001376.5(DYNC1H1):c.2121G>T (p.Gln707His)
|
|
|
NM_001376.5(DYNC1H1):c.2134G>A (p.Gly712Ser)
|
|
|
NM_001376.5(DYNC1H1):c.213C>T (p.Asp71=)
|
rs763561186
|
|
NM_001376.5(DYNC1H1):c.2146C>T (p.Arg716Cys)
|
|
|
NM_001376.5(DYNC1H1):c.2149A>G (p.Ile717Val)
|
|
|
NM_001376.5(DYNC1H1):c.2150T>G (p.Ile717Ser)
|
rs2141274940
|
|
NM_001376.5(DYNC1H1):c.2156C>T (p.Thr719Ile)
|
rs775702816
|
|
NM_001376.5(DYNC1H1):c.2161G>A (p.Glu721Lys)
|
rs2141274951
|
|
NM_001376.5(DYNC1H1):c.216G>A (p.Pro72=)
|
rs763640517
|
|
NM_001376.5(DYNC1H1):c.2172G>T (p.Arg724=)
|
|
|
NM_001376.5(DYNC1H1):c.2175T>C (p.Val725=)
|
rs757752556
|
|
NM_001376.5(DYNC1H1):c.2176C>T (p.Arg726Trp)
|
|
|
NM_001376.5(DYNC1H1):c.2177G>A (p.Arg726Gln)
|
|
|
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
|
rs1595601098
|
|
NM_001376.5(DYNC1H1):c.2186C>T (p.Thr729Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2194G>A (p.Val732Met)
|
|
|
NM_001376.5(DYNC1H1):c.21C>T (p.Gly7=)
|
|
|
NM_001376.5(DYNC1H1):c.2202G>A (p.Lys734=)
|
|
|
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
|
rs1002689170
|
|
NM_001376.5(DYNC1H1):c.2205G>T (p.Leu735=)
|
rs1230024384
|
|
NM_001376.5(DYNC1H1):c.2217T>C (p.Phe739=)
|
rs2141274986
|
|
NM_001376.5(DYNC1H1):c.221T>C (p.Val74Ala)
|
|
|
NM_001376.5(DYNC1H1):c.2232C>T (p.Ile744=)
|
|
|
NM_001376.5(DYNC1H1):c.223C>T (p.His75Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.2243A>G (p.Lys748Arg)
|
|
|
NM_001376.5(DYNC1H1):c.2244A>G (p.Lys748=)
|
rs2141274997
|
|
NM_001376.5(DYNC1H1):c.2266C>T (p.Leu756Phe)
|
|
|
NM_001376.5(DYNC1H1):c.2267T>A (p.Leu756His)
|
|
|
NM_001376.5(DYNC1H1):c.2275C>T (p.Arg759Cys)
|
rs1303476982
|
|
NM_001376.5(DYNC1H1):c.2277C>A (p.Arg759=)
|
|
|
NM_001376.5(DYNC1H1):c.2278G>T (p.Val760Phe)
|
|
|
NM_001376.5(DYNC1H1):c.2284C>A (p.Leu762Met)
|
|
|
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val)
|
rs1358924141
|
|
NM_001376.5(DYNC1H1):c.2295G>A (p.Val765=)
|
|
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083
|
|
NM_001376.5(DYNC1H1):c.2328G>T (p.Pro776=)
|
rs144921184
|
|
NM_001376.5(DYNC1H1):c.2340A>G (p.Ser780=)
|
rs2141275075
|
|
NM_001376.5(DYNC1H1):c.2343G>C (p.Leu781=)
|
|
|
NM_001376.5(DYNC1H1):c.2343G>T (p.Leu781=)
|
|
|
NM_001376.5(DYNC1H1):c.2346C>T (p.Ile782=)
|
rs375810066
|
|
NM_001376.5(DYNC1H1):c.2349G>C (p.Glu783Asp)
|
|
|
NM_001376.5(DYNC1H1):c.234G>C (p.Leu78=)
|
|
|
NM_001376.5(DYNC1H1):c.2353G>T (p.Val785Phe)
|
rs766014166
|
|
NM_001376.5(DYNC1H1):c.2357G>A (p.Arg786His)
|
|
|
NM_001376.5(DYNC1H1):c.2363A>G (p.Tyr788Cys)
|
|
|
NM_001376.5(DYNC1H1):c.2364T>C (p.Tyr788=)
|
|
|
NM_001376.5(DYNC1H1):c.2366A>T (p.Glu789Val)
|
|
|
NM_001376.5(DYNC1H1):c.2368C>T (p.Arg790Trp)
|
|
|
NM_001376.5(DYNC1H1):c.2370G>C (p.Arg790=)
|
rs1382350488
|
|
NM_001376.5(DYNC1H1):c.2373C>T (p.Thr791=)
|
|
|
NM_001376.5(DYNC1H1):c.2377G>A (p.Glu793Lys)
|
|
|
NM_001376.5(DYNC1H1):c.237G>A (p.Val79=)
|
|
|
NM_001376.5(DYNC1H1):c.2382G>A (p.Lys794=)
|
|
|
NM_001376.5(DYNC1H1):c.2392C>T (p.Arg798Trp)
|
rs749479158
|
|
NM_001376.5(DYNC1H1):c.2408T>A (p.Leu803His)
|
|
|
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe)
|
rs2047940382
|
|
NM_001376.5(DYNC1H1):c.2421C>T (p.Gly807=)
|
|
|
NM_001376.5(DYNC1H1):c.2445G>T (p.Leu815=)
|
|
|
NM_001376.5(DYNC1H1):c.2446A>G (p.Ile816Val)
|
|
|
NM_001376.5(DYNC1H1):c.2457C>T (p.Gly819=)
|
rs148030949
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.246C>T (p.Ser82=)
|
rs1360149464
|
|
NM_001376.5(DYNC1H1):c.2483A>G (p.Lys828Arg)
|
|
|
NM_001376.5(DYNC1H1):c.248C>T (p.Thr83Met)
|
rs1400787976
|
|
NM_001376.5(DYNC1H1):c.2499A>G (p.Val833=)
|
rs2047941402
|
|
NM_001376.5(DYNC1H1):c.24C>T (p.Gly8=)
|
|
|
NM_001376.5(DYNC1H1):c.2508A>G (p.Leu836=)
|
|
|
NM_001376.5(DYNC1H1):c.2518G>A (p.Val840Ile)
|
|
|
NM_001376.5(DYNC1H1):c.252C>G (p.Leu84=)
|
rs2047647519
|
|
NM_001376.5(DYNC1H1):c.2532A>G (p.Gln844=)
|
rs1174175150
|
|
NM_001376.5(DYNC1H1):c.2535A>G (p.Glu845=)
|
|
|
NM_001376.5(DYNC1H1):c.2538+18C>G
|
|
|
NM_001376.5(DYNC1H1):c.2538+5G>A
|
|
|
NM_001376.5(DYNC1H1):c.2539-20T>C
|
rs757171419
|
|
NM_001376.5(DYNC1H1):c.2539-6C>A
|
rs535465221
|
|
NM_001376.5(DYNC1H1):c.2539-6_2539-3del
|
rs2141275733
|
|
NM_001376.5(DYNC1H1):c.2539G>A (p.Val847Met)
|
|
|
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
|
rs1595601645
|
|
NM_001376.5(DYNC1H1):c.256+11G>T
|
|
|
NM_001376.5(DYNC1H1):c.256+14G>A
|
|
|
NM_001376.5(DYNC1H1):c.256+15A>T
|
|
|
NM_001376.5(DYNC1H1):c.256+16G>T
|
|
|
NM_001376.5(DYNC1H1):c.256+17G>C
|
rs1186835017
|
|
NM_001376.5(DYNC1H1):c.256+18del
|
rs2047648052
|
|
NM_001376.5(DYNC1H1):c.256+19C>T
|
|
|
NM_001376.5(DYNC1H1):c.256+7G>A
|
|
|
NM_001376.5(DYNC1H1):c.256+7G>T
|
|
|
NM_001376.5(DYNC1H1):c.2564A>G (p.Glu855Gly)
|
rs2047949907
|
|
NM_001376.5(DYNC1H1):c.257-15_257-12del
|
rs761402353
|
|
NM_001376.5(DYNC1H1):c.257-6T>A
|
rs2141266656
|
|
NM_001376.5(DYNC1H1):c.257-9G>T
|
|
|
NM_001376.5(DYNC1H1):c.2588C>A (p.Ser863Tyr)
|
rs2047950008
|
|
NM_001376.5(DYNC1H1):c.2588C>T (p.Ser863Phe)
|
|
|
NM_001376.5(DYNC1H1):c.2590T>C (p.Leu864=)
|
|
|
NM_001376.5(DYNC1H1):c.2601T>C (p.Cys867=)
|
|
|
NM_001376.5(DYNC1H1):c.2624C>G (p.Ser875Trp)
|
rs184868637
|
|
NM_001376.5(DYNC1H1):c.262G>A (p.Val88Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2637C>T (p.Asn879=)
|
rs2047950250
|
|
NM_001376.5(DYNC1H1):c.2643C>G (p.Val881=)
|
rs1954973507
|
|
NM_001376.5(DYNC1H1):c.2673C>T (p.His891=)
|
rs761526533
|
|
NM_001376.5(DYNC1H1):c.2678A>G (p.Tyr893Cys)
|
rs2141275840
|
|
NM_001376.5(DYNC1H1):c.2682C>G (p.Ser894=)
|
|
|
NM_001376.5(DYNC1H1):c.2684A>G (p.Asn895Ser)
|
|
|
NM_001376.5(DYNC1H1):c.269A>T (p.Asp90Val)
|
rs2141266676
|
|
NM_001376.5(DYNC1H1):c.26G>A (p.Gly9Asp)
|
|
|
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val)
|
rs2047951002
|
|
NM_001376.5(DYNC1H1):c.2715_2718+2del
|
|
|
NM_001376.5(DYNC1H1):c.2718+20A>G
|
rs370794188
|
|
NM_001376.5(DYNC1H1):c.2718+6G>A
|
|
|
NM_001376.5(DYNC1H1):c.2719-14A>G
|
|
|
NM_001376.5(DYNC1H1):c.2719-19G>C
|
|
|
NM_001376.5(DYNC1H1):c.2719-9_2719-7del
|
rs566271356
|
|
NM_001376.5(DYNC1H1):c.2721T>G (p.Ile907Met)
|
rs114021657
|
|
NM_001376.5(DYNC1H1):c.2737G>T (p.Val913Phe)
|
rs372740994
|
|
NM_001376.5(DYNC1H1):c.2743C>T (p.Leu915=)
|
|
|
NM_001376.5(DYNC1H1):c.2750C>G (p.Ala917Gly)
|
|
|
NM_001376.5(DYNC1H1):c.2751T>C (p.Ala917=)
|
rs2141276642
|
|
NM_001376.5(DYNC1H1):c.2757G>A (p.Leu919=)
|
|
|
NM_001376.5(DYNC1H1):c.2766G>C (p.Trp922Cys)
|
rs2141276645
|
|
NM_001376.5(DYNC1H1):c.2769G>C (p.Thr923=)
|
rs766285625
|
|
NM_001376.5(DYNC1H1):c.2773G>A (p.Val925Ile)
|
rs753727576
|
|
NM_001376.5(DYNC1H1):c.2778T>C (p.Leu926=)
|
rs1277515928
|
|
NM_001376.5(DYNC1H1):c.277GAA[2] (p.Glu95del)
|
rs913021962
|
|
NM_001376.5(DYNC1H1):c.2794G>A (p.Asp932Asn)
|
|
|
NM_001376.5(DYNC1H1):c.279A>G (p.Glu93=)
|
|
|
NM_001376.5(DYNC1H1):c.2813T>C (p.Met938Thr)
|
|
|
NM_001376.5(DYNC1H1):c.2813T>G (p.Met938Arg)
|
rs2047964248
|
|
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
|
rs1595602265
|
|
NM_001376.5(DYNC1H1):c.2828C>T (p.Pro943Leu)
|
|
|
NM_001376.5(DYNC1H1):c.2829A>G (p.Pro943=)
|
rs757594867
|
|
NM_001376.5(DYNC1H1):c.282A>G (p.Glu94=)
|
|
|
NM_001376.5(DYNC1H1):c.2833G>A (p.Val945Ile)
|
rs2141276701
|
|
NM_001376.5(DYNC1H1):c.283G>A (p.Glu95Lys)
|
|
|
NM_001376.5(DYNC1H1):c.2851G>A (p.Gly951Arg)
|
rs2141276704
|
|
NM_001376.5(DYNC1H1):c.2860A>G (p.Lys954Glu)
|
rs2141276707
|
|
NM_001376.5(DYNC1H1):c.2867A>G (p.Lys956Arg)
|
rs2141276715
|
|
NM_001376.5(DYNC1H1):c.2868+10T>A
|
|
|
NM_001376.5(DYNC1H1):c.2868+13G>A
|
|
|
NM_001376.5(DYNC1H1):c.2868+21_2868+25del
|
rs767708633
|
|
NM_001376.5(DYNC1H1):c.2869-14C>G
|
|
|
NM_001376.5(DYNC1H1):c.2872G>A (p.Val958Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2878C>A (p.His960Asn)
|
|
|
NM_001376.5(DYNC1H1):c.2883G>A (p.Glu961=)
|
rs2047998469
|
|
NM_001376.5(DYNC1H1):c.2906T>G (p.Ile969Ser)
|
rs2141278577
|
|
NM_001376.5(DYNC1H1):c.290A>G (p.Glu97Gly)
|
|
|
NM_001376.5(DYNC1H1):c.2910C>T (p.Tyr970=)
|
|
|
NM_001376.5(DYNC1H1):c.2912T>A (p.Leu971Ter)
|
|
|
NM_001376.5(DYNC1H1):c.2923A>G (p.Ile975Val)
|
rs939424759
|
|
NM_001376.5(DYNC1H1):c.2951A>G (p.Gln984Arg)
|
rs2141278608
|
|
NM_001376.5(DYNC1H1):c.2952G>A (p.Gln984=)
|
|
|
NM_001376.5(DYNC1H1):c.2956A>G (p.Met986Val)
|
|
|
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
|
rs1595595758
|
|
NM_001376.5(DYNC1H1):c.2964C>T (p.Ala988=)
|
|
|
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val)
|
rs1057518524
|
|
NM_001376.5(DYNC1H1):c.2974G>A (p.Val992Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2986C>G (p.Leu996Val)
|
rs1194361096
|
|
NM_001376.5(DYNC1H1):c.2987dup (p.Arg998fs)
|
rs2141278640
|
|
NM_001376.5(DYNC1H1):c.2989C>G (p.Pro997Ala)
|
|
|
NM_001376.5(DYNC1H1):c.2995A>T (p.Ile999Phe)
|
|
|
NM_001376.5(DYNC1H1):c.3003T>C (p.Ser1001=)
|
|
|
NM_001376.5(DYNC1H1):c.3015+17_3015+18delinsCT
|
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3015+18C>T
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3016-5del
|
rs754038051
|
|
NM_001376.5(DYNC1H1):c.3020G>A (p.Gly1007Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3021T>C (p.Gly1007=)
|
rs538736432
|
|
NM_001376.5(DYNC1H1):c.3030C>T (p.Tyr1010=)
|
rs1355964417
|
|
NM_001376.5(DYNC1H1):c.3031G>A (p.Glu1011Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3036G>A (p.Leu1012=)
|
|
|
NM_001376.5(DYNC1H1):c.3037A>G (p.Thr1013Ala)
|
rs2141280415
|
|
NM_001376.5(DYNC1H1):c.3038C>T (p.Thr1013Ile)
|
rs1158585472
|
|
NM_001376.5(DYNC1H1):c.3044A>G (p.Glu1015Gly)
|
|
|
NM_001376.5(DYNC1H1):c.3053T>C (p.Phe1018Ser)
|
rs1318726169
|
|
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn)
|
rs2048031484
|
|
NM_001376.5(DYNC1H1):c.305A>C (p.Asn102Thr)
|
rs1002004066
|
|
NM_001376.5(DYNC1H1):c.3064G>T (p.Ala1022Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3078G>A (p.Met1026Ile)
|
rs2048031667
|
|
NM_001376.5(DYNC1H1):c.307A>G (p.Ile103Val)
|
|
|
NM_001376.5(DYNC1H1):c.3096C>G (p.Ala1032=)
|
rs1060504507
|
|
NM_001376.5(DYNC1H1):c.3097C>G (p.Leu1033Val)
|
|
|
NM_001376.5(DYNC1H1):c.3098T>C (p.Leu1033Pro)
|
|
|
NM_001376.5(DYNC1H1):c.3100G>A (p.Glu1034Lys)
|
rs2048031969
|
|
NM_001376.5(DYNC1H1):c.3108G>A (p.Ser1036=)
|
|
|
NM_001376.5(DYNC1H1):c.311del (p.Asn104fs)
|
|
|
NM_001376.5(DYNC1H1):c.3121A>C (p.Met1041Leu)
|
rs867890249
|
|
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu)
|
rs867890249
|
|
NM_001376.5(DYNC1H1):c.3122T>C (p.Met1041Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp)
|
rs2048032260
|
|
NM_001376.5(DYNC1H1):c.3129T>C (p.Ile1043=)
|
rs2141280477
|
|
NM_001376.5(DYNC1H1):c.312C>G (p.Asn104Lys)
|
|
|
NM_001376.5(DYNC1H1):c.313A>T (p.Ile105Leu)
|
rs778763364
|
|
NM_001376.5(DYNC1H1):c.3146A>G (p.Gln1049Arg)
|
rs1412540989
|
|
NM_001376.5(DYNC1H1):c.314T>C (p.Ile105Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3156+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.3156+6A>G
|
|
|
NM_001376.5(DYNC1H1):c.3157-15_3157-14del
|
|
|
NM_001376.5(DYNC1H1):c.3157-16T>C
|
|
|
NM_001376.5(DYNC1H1):c.3157-17G>C
|
|
|
NM_001376.5(DYNC1H1):c.3157-3C>A
|
|
|
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)
|
rs2048038246
|
|
NM_001376.5(DYNC1H1):c.3183G>C (p.Trp1061Cys)
|
|
|
NM_001376.5(DYNC1H1):c.3185A>C (p.Asp1062Ala)
|
|
|
NM_001376.5(DYNC1H1):c.3186T>C (p.Asp1062=)
|
|
|
NM_001376.5(DYNC1H1):c.3193G>A (p.Ala1065Thr)
|
rs2141280767
|
|
NM_001376.5(DYNC1H1):c.3210C>T (p.Asn1070=)
|
rs1595605306
|
|
NM_001376.5(DYNC1H1):c.321T>C (p.Ile107=)
|
|
|
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp)
|
rs2048038698
|
|
NM_001376.5(DYNC1H1):c.3225T>A (p.Asp1075Glu)
|
|
|
NM_001376.5(DYNC1H1):c.3228C>A (p.Leu1076=)
|
|
|
NM_001376.5(DYNC1H1):c.3228C>T (p.Leu1076=)
|
|
|
NM_001376.5(DYNC1H1):c.3231C>T (p.Asn1077=)
|
|
|
NM_001376.5(DYNC1H1):c.3234A>G (p.Lys1078=)
|
|
|
NM_001376.5(DYNC1H1):c.323A>G (p.His108Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3241G>C (p.Ala1081Pro)
|
|
|
NM_001376.5(DYNC1H1):c.3246C>T (p.Leu1082=)
|
rs2141280793
|
|
NM_001376.5(DYNC1H1):c.3249G>A (p.Leu1083=)
|
rs767157510
|
|
NM_001376.5(DYNC1H1):c.3250G>A (p.Val1084Ile)
|
|
|
NM_001376.5(DYNC1H1):c.3269G>A (p.Arg1090Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3277T>C (p.Phe1093Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3287C>T (p.Ala1096Val)
|
rs2048039336
|
|
NM_001376.5(DYNC1H1):c.3296A>G (p.Lys1099Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3300A>G (p.Lys1100=)
|
|
|
NM_001376.5(DYNC1H1):c.3312A>G (p.Pro1104=)
|
|
|
NM_001376.5(DYNC1H1):c.3313G>T (p.Val1105Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3320T>C (p.Ile1107Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn)
|
rs2048039792
|
|
NM_001376.5(DYNC1H1):c.3333+15C>T
|
|
|
NM_001376.5(DYNC1H1):c.3333+19T>G
|
|
|
NM_001376.5(DYNC1H1):c.3333+8C>T
|
rs1018356572
|
|
NM_001376.5(DYNC1H1):c.3333+9T>A
|
|
|
NM_001376.5(DYNC1H1):c.3334-18G>T
|
|
|
NM_001376.5(DYNC1H1):c.3334-4T>A
|
rs368422942
|
|
NM_001376.5(DYNC1H1):c.3334-6C>A
|
rs2141280934
|
|
NM_001376.5(DYNC1H1):c.335A>G (p.Lys112Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3363C>T (p.Asp1121=)
|
|
|
NM_001376.5(DYNC1H1):c.3371A>G (p.His1124Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3372T>C (p.His1124=)
|
|
|
NM_001376.5(DYNC1H1):c.3378G>C (p.Glu1126Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3379G>T (p.Val1127Phe)
|
rs2048042790
|
|
NM_001376.5(DYNC1H1):c.3400A>T (p.Met1134Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3403C>G (p.Leu1135Val)
|
rs2141280981
|
|
NM_001376.5(DYNC1H1):c.3405A>G (p.Leu1135=)
|
rs1595605468
|
|
NM_001376.5(DYNC1H1):c.3412A>G (p.Asn1138Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp)
|
rs2048043377
|
|
NM_001376.5(DYNC1H1):c.3429T>C (p.His1143=)
|
|
|
NM_001376.5(DYNC1H1):c.3438C>T (p.Ile1146=)
|
|
|
NM_001376.5(DYNC1H1):c.343A>G (p.Ser115Gly)
|
rs2141266719
|
|
NM_001376.5(DYNC1H1):c.344+12A>G
|
|
|
NM_001376.5(DYNC1H1):c.344+20C>A
|
|
|
NM_001376.5(DYNC1H1):c.3444+14A>G
|
rs1203391947
|
|
NM_001376.5(DYNC1H1):c.3444+17C>G
|
|
|
NM_001376.5(DYNC1H1):c.3445-10C>T
|
|
|
NM_001376.5(DYNC1H1):c.3445-12C>A
|
|
|
NM_001376.5(DYNC1H1):c.3445-19C>A
|
|
|
NM_001376.5(DYNC1H1):c.3445-5A>T
|
|
|
NM_001376.5(DYNC1H1):c.3445-6G>A
|
rs1057086412
|
|
NM_001376.5(DYNC1H1):c.345-8del
|
|
|
NM_001376.5(DYNC1H1):c.3474A>T (p.Val1158=)
|
|
|
NM_001376.5(DYNC1H1):c.3479C>T (p.Thr1160Met)
|
rs200290958
|
|
NM_001376.5(DYNC1H1):c.3492C>T (p.Ser1164=)
|
|
|
NM_001376.5(DYNC1H1):c.3493G>A (p.Asp1165Asn)
|
|
|
NM_001376.5(DYNC1H1):c.3499G>T (p.Val1167Leu)
|
|
|
NM_001376.5(DYNC1H1):c.34G>C (p.Gly12Arg)
|
rs2047643021
|
|
NM_001376.5(DYNC1H1):c.3501G>A (p.Val1167=)
|
rs890917236
|
|
NM_001376.5(DYNC1H1):c.3503C>G (p.Thr1168Ser)
|
rs2141281089
|
|
NM_001376.5(DYNC1H1):c.3504C>T (p.Thr1168=)
|
|
|
NM_001376.5(DYNC1H1):c.3510C>T (p.Ile1170=)
|
|
|
NM_001376.5(DYNC1H1):c.3511A>G (p.Thr1171Ala)
|
rs2141281094
|
|
NM_001376.5(DYNC1H1):c.3515A>C (p.Tyr1172Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3515A>G (p.Tyr1172Cys)
|
rs775012149
|
|
NM_001376.5(DYNC1H1):c.3515A>T (p.Tyr1172Phe)
|
|
|
NM_001376.5(DYNC1H1):c.3519G>A (p.Val1173=)
|
|
|
NM_001376.5(DYNC1H1):c.3521A>G (p.Gln1174Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3528G>A (p.Leu1176=)
|
|
|
NM_001376.5(DYNC1H1):c.355A>G (p.Ile119Val)
|
rs953641294
|
|
NM_001376.5(DYNC1H1):c.3560T>C (p.Val1187Ala)
|
rs2141281137
|
|
NM_001376.5(DYNC1H1):c.3564+14A>G
|
|
|
NM_001376.5(DYNC1H1):c.3564+18T>G
|
rs2141281147
|
|
NM_001376.5(DYNC1H1):c.3564+6C>G
|
|
|
NM_001376.5(DYNC1H1):c.3564+9T>C
|
|
|
NM_001376.5(DYNC1H1):c.3565-12dup
|
|
|
NM_001376.5(DYNC1H1):c.3565-18A>T
|
|
|
NM_001376.5(DYNC1H1):c.3571C>A (p.Arg1191Ser)
|
rs774198261
|
|
NM_001376.5(DYNC1H1):c.3574A>C (p.Asn1192His)
|
rs1265590172
|
|
NM_001376.5(DYNC1H1):c.3575A>G (p.Asn1192Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3580C>T (p.Gln1194Ter)
|
|
|
NM_001376.5(DYNC1H1):c.3584G>A (p.Arg1195His)
|
|
|
NM_001376.5(DYNC1H1):c.3589C>T (p.Leu1197=)
|
rs1465041740
|
|
NM_001376.5(DYNC1H1):c.3598C>A (p.Gln1200Lys)
|
rs2141282625
|
|
NM_001376.5(DYNC1H1):c.3603G>A (p.Arg1201=)
|
rs727505393
|
|
NM_001376.5(DYNC1H1):c.3616C>G (p.Pro1206Ala)
|
|
|
NM_001376.5(DYNC1H1):c.361C>G (p.Arg121Gly)
|
rs2141269354
|
|
NM_001376.5(DYNC1H1):c.362G>A (p.Arg121His)
|
|
|
NM_001376.5(DYNC1H1):c.3632T>C (p.Ile1211Thr)
|
rs2048071348
|
|
NM_001376.5(DYNC1H1):c.3633T>A (p.Ile1211=)
|
rs2141282643
|
|
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=)
|
rs778273904
|
|
NM_001376.5(DYNC1H1):c.3642C>T (p.Ile1214=)
|
rs778273904
|
|
NM_001376.5(DYNC1H1):c.3643G>A (p.Glu1215Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3645G>A (p.Glu1215=)
|
|
|
NM_001376.5(DYNC1H1):c.3663C>T (p.Phe1221=)
|
|
|
NM_001376.5(DYNC1H1):c.3665A>G (p.Asn1222Ser)
|
rs2048071678
|
|
NM_001376.5(DYNC1H1):c.3669C>T (p.Asp1223=)
|
|
|
NM_001376.5(DYNC1H1):c.3676C>A (p.Arg1226=)
|
rs1000725714
|
|
NM_001376.5(DYNC1H1):c.3676C>T (p.Arg1226Trp)
|
|
|
NM_001376.5(DYNC1H1):c.3680G>A (p.Arg1227Gln)
|
rs2048071941
|
|
NM_001376.5(DYNC1H1):c.3689C>G (p.Ser1230Cys)
|
rs2048071968
|
|
NM_001376.5(DYNC1H1):c.36C>G (p.Gly12=)
|
rs373527972
|
|
NM_001376.5(DYNC1H1):c.3702G>A (p.Gln1234=)
|
rs2141282680
|
|
NM_001376.5(DYNC1H1):c.372G>A (p.Val124=)
|
|
|
NM_001376.5(DYNC1H1):c.3730del (p.Val1244fs)
|
|
|
NM_001376.5(DYNC1H1):c.3734A>G (p.Gln1245Arg)
|
rs2141282700
|
|
NM_001376.5(DYNC1H1):c.3742C>T (p.Arg1248Trp)
|
rs1217320477
|
|
NM_001376.5(DYNC1H1):c.3744G>A (p.Arg1248=)
|
|
|
NM_001376.5(DYNC1H1):c.3745G>A (p.Ala1249Thr)
|
rs2141282710
|
|
NM_001376.5(DYNC1H1):c.3748G>A (p.Val1250Met)
|
|
|
NM_001376.5(DYNC1H1):c.3748G>T (p.Val1250Leu)
|
rs369914512
|
|
NM_001376.5(DYNC1H1):c.3768C>T (p.Asp1256=)
|
|
|
NM_001376.5(DYNC1H1):c.3789G>A (p.Lys1263=)
|
rs1477959986
|
|
NM_001376.5(DYNC1H1):c.378T>C (p.Asp126=)
|
|
|
NM_001376.5(DYNC1H1):c.3795G>T (p.Lys1265Asn)
|
rs1555408996
|
|
NM_001376.5(DYNC1H1):c.3803C>A (p.Thr1268Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met)
|
rs751865408
|
|
NM_001376.5(DYNC1H1):c.3803_3804+1dup
|
|
|
NM_001376.5(DYNC1H1):c.3804+10G>A
|
rs868676505
|
|
NM_001376.5(DYNC1H1):c.3804+13A>T
|
|
|
NM_001376.5(DYNC1H1):c.3804+15G>A
|
|
|
NM_001376.5(DYNC1H1):c.3804+15G>C
|
|
|
NM_001376.5(DYNC1H1):c.3804+15G>T
|
rs1481916299
|
|
NM_001376.5(DYNC1H1):c.3804+16dup
|
|
|
NM_001376.5(DYNC1H1):c.3804+20del
|
|
|
NM_001376.5(DYNC1H1):c.3805-19G>A
|
|
|
NM_001376.5(DYNC1H1):c.3809A>C (p.Asn1270Thr)
|
rs1246328675
|
|
NM_001376.5(DYNC1H1):c.3814C>T (p.Arg1272Cys)
|
rs2141284990
|
|
NM_001376.5(DYNC1H1):c.3816C>A (p.Arg1272=)
|
|
|
NM_001376.5(DYNC1H1):c.3819A>G (p.Pro1273=)
|
rs996115621
|
|
NM_001376.5(DYNC1H1):c.3843C>T (p.Thr1281=)
|
|
|
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
|
rs1567005557
|
|
NM_001376.5(DYNC1H1):c.3846A>G (p.Ile1282Met)
|
|
|
NM_001376.5(DYNC1H1):c.3847T>C (p.Tyr1283His)
|
rs2141285009
|
|
NM_001376.5(DYNC1H1):c.3861T>C (p.Phe1287=)
|
|
|
NM_001376.5(DYNC1H1):c.3864T>C (p.Gly1288=)
|
|
|
NM_001376.5(DYNC1H1):c.386A>C (p.Lys129Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3877G>A (p.Asp1293Asn)
|
|
|
NM_001376.5(DYNC1H1):c.388C>A (p.Pro130Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3900C>T (p.Ala1300=)
|
rs1725610555
|
|
NM_001376.5(DYNC1H1):c.3903G>A (p.Lys1301=)
|
rs1595608265
|
|
NM_001376.5(DYNC1H1):c.3908C>T (p.Ala1303Val)
|
|
|
NM_001376.5(DYNC1H1):c.3909G>T (p.Ala1303=)
|
rs34690489
|
|
NM_001376.5(DYNC1H1):c.391G>A (p.Val131Met)
|
rs1488184652
|
|
NM_001376.5(DYNC1H1):c.3926C>T (p.Thr1309Ile)
|
|
|
NM_001376.5(DYNC1H1):c.3927T>C (p.Thr1309=)
|
|
|
NM_001376.5(DYNC1H1):c.3937A>G (p.Ser1313Gly)
|
|
|
NM_001376.5(DYNC1H1):c.3953G>A (p.Arg1318His)
|
|
|
NM_001376.5(DYNC1H1):c.3954C>T (p.Arg1318=)
|
|
|
NM_001376.5(DYNC1H1):c.3959A>C (p.Gln1320Pro)
|
|
|
NM_001376.5(DYNC1H1):c.3960+12T>C
|
|
|
NM_001376.5(DYNC1H1):c.3960+14G>A
|
|
|
NM_001376.5(DYNC1H1):c.3960+19T>C
|
|
|
NM_001376.5(DYNC1H1):c.3960+1G>C
|
|
|
NM_001376.5(DYNC1H1):c.3960+4T>C
|
|
|
NM_001376.5(DYNC1H1):c.3961-18T>C
|
|
|
NM_001376.5(DYNC1H1):c.3961-3C>T
|
rs113172372
|
|
NM_001376.5(DYNC1H1):c.3961-4G>A
|
|
|
NM_001376.5(DYNC1H1):c.3963G>A (p.Val1321=)
|
|
|
NM_001376.5(DYNC1H1):c.3965C>T (p.Ala1322Val)
|
rs2141285225
|
|
NM_001376.5(DYNC1H1):c.396T>C (p.Ser132=)
|
rs2141269386
|
|
NM_001376.5(DYNC1H1):c.3970G>A (p.Glu1324Lys)
|
rs2141285228
|
|
NM_001376.5(DYNC1H1):c.3990A>G (p.Lys1330=)
|
|
|
NM_001376.5(DYNC1H1):c.399T>C (p.Ser133=)
|
rs2047837466
|
|
NM_001376.5(DYNC1H1):c.39G>C (p.Ser13=)
|
rs773381038
|
|
NM_001376.5(DYNC1H1):c.4000T>G (p.Ser1334Ala)
|
|
|
NM_001376.5(DYNC1H1):c.4005A>G (p.Glu1335=)
|
rs2141285245
|
|
NM_001376.5(DYNC1H1):c.4012A>G (p.Lys1338Glu)
|
|
|
NM_001376.5(DYNC1H1):c.4016T>C (p.Val1339Ala)
|
|
|
NM_001376.5(DYNC1H1):c.4030G>A (p.Asp1344Asn)
|
rs575285403
|
|
NM_001376.5(DYNC1H1):c.4037T>C (p.Met1346Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu)
|
rs1131691955
|
|
NM_001376.5(DYNC1H1):c.4070G>A (p.Arg1357Gln)
|
|
|
NM_001376.5(DYNC1H1):c.4074+16G>A
|
rs200562671
|
|
NM_001376.5(DYNC1H1):c.4074+16G>T
|
rs200562671
|
|
NM_001376.5(DYNC1H1):c.4074+17G>A
|
rs1423045892
|
|
NM_001376.5(DYNC1H1):c.4074+4_4074+5delinsAT
|
rs2141285280
|
|
NM_001376.5(DYNC1H1):c.4074+7C>G
|
rs2141285286
|
|
NM_001376.5(DYNC1H1):c.4074+8A>C
|
|
|
NM_001376.5(DYNC1H1):c.4074+9T>G
|
|
|
NM_001376.5(DYNC1H1):c.4075-15T>A
|
|
|
NM_001376.5(DYNC1H1):c.4075-15del
|
|
|
NM_001376.5(DYNC1H1):c.4075-16A>G
|
|
|
NM_001376.5(DYNC1H1):c.4075-20T>A
|
|
|
NM_001376.5(DYNC1H1):c.4075-8C>T
|
|
|
NM_001376.5(DYNC1H1):c.4079G>A (p.Arg1360Gln)
|
|
|
NM_001376.5(DYNC1H1):c.4087T>C (p.Leu1363=)
|
|
|
NM_001376.5(DYNC1H1):c.4089G>A (p.Leu1363=)
|
rs983150954
|
|
NM_001376.5(DYNC1H1):c.408G>A (p.Arg136=)
|
|
|
NM_001376.5(DYNC1H1):c.4093G>T (p.Ala1365Ser)
|
|
|
NM_001376.5(DYNC1H1):c.4107G>T (p.Gln1369His)
|
|
|
NM_001376.5(DYNC1H1):c.411C>T (p.Val137=)
|
|
|
NM_001376.5(DYNC1H1):c.4133G>A (p.Arg1378Gln)
|
rs2048124807
|
|
NM_001376.5(DYNC1H1):c.4137G>A (p.Gln1379=)
|
rs781347128
|
|
NM_001376.5(DYNC1H1):c.4139A>G (p.Tyr1380Cys)
|
|
|
NM_001376.5(DYNC1H1):c.4142C>T (p.Ala1381Val)
|
|
|
NM_001376.5(DYNC1H1):c.4148A>G (p.Tyr1383Cys)
|
rs2141285806
|
|
NM_001376.5(DYNC1H1):c.414T>C (p.Leu138=)
|
rs2047837632
|
|
NM_001376.5(DYNC1H1):c.4168C>T (p.Leu1390=)
|
|
|
NM_001376.5(DYNC1H1):c.4172A>G (p.Lys1391Arg)
|
|
|
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn)
|
rs1555409283
|
|
NM_001376.5(DYNC1H1):c.417A>G (p.Thr139=)
|
|
|
NM_001376.5(DYNC1H1):c.417A>T (p.Thr139=)
|
|
|
NM_001376.5(DYNC1H1):c.4185+14A>G
|
rs2141285829
|
|
NM_001376.5(DYNC1H1):c.4185+16C>G
|
|
|
NM_001376.5(DYNC1H1):c.4185+9C>G
|
|
|
NM_001376.5(DYNC1H1):c.4186-11T>G
|
|
|
NM_001376.5(DYNC1H1):c.4186-14T>G
|
rs2141285869
|
|
NM_001376.5(DYNC1H1):c.4186-14del
|
|
|
NM_001376.5(DYNC1H1):c.4186-17G>A
|
rs749598059
|
|
NM_001376.5(DYNC1H1):c.4190A>G (p.Asn1397Ser)
|
|
|
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr)
|
rs1567006255
|
|
NM_001376.5(DYNC1H1):c.4196T>A (p.Leu1399Gln)
|
rs2048126271
|
|
NM_001376.5(DYNC1H1):c.4197G>A (p.Leu1399=)
|
rs2141285890
|
|
NM_001376.5(DYNC1H1):c.4202T>C (p.Ile1401Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4209G>A (p.Leu1403=)
|
|
|
NM_001376.5(DYNC1H1):c.420C>T (p.Leu140=)
|
rs1337354666
|
|
NM_001376.5(DYNC1H1):c.4222C>G (p.Leu1408Val)
|
|
|
NM_001376.5(DYNC1H1):c.4227A>C (p.Lys1409Asn)
|
rs1941718258
|
|
NM_001376.5(DYNC1H1):c.4230C>T (p.Asp1410=)
|
rs1011026337
|
|
NM_001376.5(DYNC1H1):c.4231C>T (p.Arg1411Cys)
|
rs1567006266
|
|
NM_001376.5(DYNC1H1):c.4232G>A (p.Arg1411His)
|
|
|
NM_001376.5(DYNC1H1):c.4236T>C (p.His1412=)
|
rs2048126636
|
|
NM_001376.5(DYNC1H1):c.4242A>C (p.Lys1414Asn)
|
|
|
NM_001376.5(DYNC1H1):c.4249A>T (p.Met1417Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4250T>C (p.Met1417Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4257G>A (p.Arg1419=)
|
rs2048126705
|
|
NM_001376.5(DYNC1H1):c.4257G>C (p.Arg1419Ser)
|
rs2048126705
|
|
NM_001376.5(DYNC1H1):c.4263C>T (p.His1421=)
|
|
|
NM_001376.5(DYNC1H1):c.4276G>T (p.Val1426Phe)
|
|
|
NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)
|
rs2048126921
|
|
NM_001376.5(DYNC1H1):c.4289C>A (p.Thr1430Asn)
|
rs1171366952
|
|
NM_001376.5(DYNC1H1):c.4291del (p.Gly1432fs)
|
|
|
NM_001376.5(DYNC1H1):c.4293T>C (p.Leu1431=)
|
rs1595609023
|
|
NM_001376.5(DYNC1H1):c.4300A>C (p.Ile1434Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4310T>C (p.Val1437Ala)
|
|
|
NM_001376.5(DYNC1H1):c.4315T>G (p.Leu1439Val)
|
rs2048127456
|
|
NM_001376.5(DYNC1H1):c.431C>T (p.Ser144Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4320G>A (p.Gln1440=)
|
|
|
NM_001376.5(DYNC1H1):c.432G>T (p.Ser144=)
|
rs533327200
|
|
NM_001376.5(DYNC1H1):c.4345G>A (p.Val1449Ile)
|
|
|
NM_001376.5(DYNC1H1):c.4351C>G (p.Leu1451Val)
|
|
|
NM_001376.5(DYNC1H1):c.4368G>A (p.Glu1456=)
|
|
|
NM_001376.5(DYNC1H1):c.4382A>G (p.Glu1461Gly)
|
|
|
NM_001376.5(DYNC1H1):c.4383A>G (p.Glu1461=)
|
|
|
NM_001376.5(DYNC1H1):c.4384T>A (p.Phe1462Ile)
|
|
|
NM_001376.5(DYNC1H1):c.4392G>A (p.Lys1464=)
|
|
|
NM_001376.5(DYNC1H1):c.4395+19C>T
|
rs776326398
|
|
NM_001376.5(DYNC1H1):c.4395+9T>C
|
|
|
NM_001376.5(DYNC1H1):c.4396-4T>C
|
rs1595609191
|
|
NM_001376.5(DYNC1H1):c.4396-8G>T
|
rs2048130559
|
|
NM_001376.5(DYNC1H1):c.4410G>A (p.Trp1470Ter)
|
|
|
NM_001376.5(DYNC1H1):c.4416T>A (p.Thr1472=)
|
rs778296023
|
|
NM_001376.5(DYNC1H1):c.4435A>C (p.Asn1479His)
|
|
|
NM_001376.5(DYNC1H1):c.4452C>T (p.Cys1484=)
|
|
|
NM_001376.5(DYNC1H1):c.4453C>T (p.Arg1485Cys)
|
|
|
NM_001376.5(DYNC1H1):c.4461C>G (p.Ile1487Met)
|
|
|
NM_001376.5(DYNC1H1):c.4467C>T (p.Gly1489=)
|
rs2141286171
|
|
NM_001376.5(DYNC1H1):c.4471G>A (p.Asp1491Asn)
|
|
|
NM_001376.5(DYNC1H1):c.4482C>G (p.Phe1494Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4494A>G (p.Lys1498=)
|
rs2141286189
|
|
NM_001376.5(DYNC1H1):c.4500C>T (p.His1500=)
|
rs2048131418
|
|
NM_001376.5(DYNC1H1):c.4502T>C (p.Ile1501Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4503C>T (p.Ile1501=)
|
rs2141286193
|
|
NM_001376.5(DYNC1H1):c.4505A>G (p.Asn1502Ser)
|
|
|
NM_001376.5(DYNC1H1):c.4512C>T (p.Val1504=)
|
rs1248505725
|
|
NM_001376.5(DYNC1H1):c.4514C>T (p.Ser1505Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4525C>T (p.Leu1509Phe)
|
|
|
NM_001376.5(DYNC1H1):c.4527C>T (p.Leu1509=)
|
|
|
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu)
|
rs1327664377
|
|
NM_001376.5(DYNC1H1):c.4539C>T (p.Tyr1513=)
|
|
|
NM_001376.5(DYNC1H1):c.453T>C (p.Ser151=)
|
rs1595597411
|
|
NM_001376.5(DYNC1H1):c.4542+6G>T
|
rs375822798
|
|
NM_001376.5(DYNC1H1):c.4543-11C>T
|
|
|
NM_001376.5(DYNC1H1):c.4543-12T>A
|
|
|
NM_001376.5(DYNC1H1):c.4543-16C>T
|
|
|
NM_001376.5(DYNC1H1):c.4543-19C>T
|
|
|
NM_001376.5(DYNC1H1):c.4543-4C>T
|
|
|
NM_001376.5(DYNC1H1):c.4543-7C>T
|
rs1555409395
|
|
NM_001376.5(DYNC1H1):c.4543-8C>T
|
|
|
NM_001376.5(DYNC1H1):c.4543-9G>A
|
|
|
NM_001376.5(DYNC1H1):c.455T>A (p.Phe152Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.4572A>T (p.Glu1524Asp)
|
rs2048144507
|
|
NM_001376.5(DYNC1H1):c.4573G>C (p.Asp1525His)
|
|
|
NM_001376.5(DYNC1H1):c.457A>C (p.Ile153Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4594G>A (p.Ala1532Thr)
|
|
|
NM_001376.5(DYNC1H1):c.45A>C (p.Gly15=)
|
|
|
NM_001376.5(DYNC1H1):c.461G>A (p.Ser154Asn)
|
|
|
NM_001376.5(DYNC1H1):c.4624A>G (p.Arg1542Gly)
|
rs1567006939
|
|
NM_001376.5(DYNC1H1):c.4635C>G (p.Val1545=)
|
|
|
NM_001376.5(DYNC1H1):c.4639C>T (p.Leu1547=)
|
|
|
NM_001376.5(DYNC1H1):c.4650C>A (p.Ile1550=)
|
|
|
NM_001376.5(DYNC1H1):c.4656A>T (p.Thr1552=)
|
|
|
NM_001376.5(DYNC1H1):c.465T>C (p.Asn155=)
|
|
|
NM_001376.5(DYNC1H1):c.4668T>C (p.Asp1556=)
|
|
|
NM_001376.5(DYNC1H1):c.4680G>A (p.Leu1560=)
|
rs1281562859
|
|
NM_001376.5(DYNC1H1):c.4683G>T (p.Leu1561=)
|
rs779576586
|
|
NM_001376.5(DYNC1H1):c.4699C>T (p.Arg1567Trp)
|
rs377013246
|
|
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)
|
rs797044901
|
|
NM_001376.5(DYNC1H1):c.4709+11C>A
|
|
|
NM_001376.5(DYNC1H1):c.4709+11C>T
|
|
|
NM_001376.5(DYNC1H1):c.4709+17G>A
|
|
|
NM_001376.5(DYNC1H1):c.4709+18A>G
|
|
|
NM_001376.5(DYNC1H1):c.4709+6G>T
|
rs1555409403
|
|
NM_001376.5(DYNC1H1):c.4709+8C>T
|
|
|
NM_001376.5(DYNC1H1):c.4710-16T>C
|
rs765859961
|
|
NM_001376.5(DYNC1H1):c.4710-20T>C
|
|
|
NM_001376.5(DYNC1H1):c.4710-6T>A
|
|
|
NM_001376.5(DYNC1H1):c.4719T>G (p.Thr1573=)
|
|
|
NM_001376.5(DYNC1H1):c.473C>T (p.Ala158Val)
|
|
|
NM_001376.5(DYNC1H1):c.4740A>G (p.Lys1580=)
|
|
|
NM_001376.5(DYNC1H1):c.4744G>A (p.Val1582Met)
|
|
|
NM_001376.5(DYNC1H1):c.4755T>C (p.Ser1585=)
|
|
|
NM_001376.5(DYNC1H1):c.4758C>T (p.Pro1586=)
|
|
|
NM_001376.5(DYNC1H1):c.4759C>G (p.Leu1587Val)
|
rs866469461
|
|
NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)
|
rs200700087
|
|
NM_001376.5(DYNC1H1):c.4779C>T (p.Asn1593=)
|
|
|
NM_001376.5(DYNC1H1):c.477T>C (p.Pro159=)
|
|
|
NM_001376.5(DYNC1H1):c.4784A>G (p.Gln1595Arg)
|
|
|
NM_001376.5(DYNC1H1):c.4806A>G (p.Glu1602=)
|
|
|
NM_001376.5(DYNC1H1):c.4811T>G (p.Leu1604Trp)
|
rs2141287084
|
|
NM_001376.5(DYNC1H1):c.4838A>G (p.Lys1613Arg)
|
|
|
NM_001376.5(DYNC1H1):c.4864G>C (p.Glu1622Gln)
|
|
|
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)
|
rs1064796765
|
|
NM_001376.5(DYNC1H1):c.4883+7T>A
|
rs2141287126
|
|
NM_001376.5(DYNC1H1):c.4884-11T>G
|
|
|
NM_001376.5(DYNC1H1):c.4884-14T>C
|
rs2141288454
|
|
NM_001376.5(DYNC1H1):c.4884-4T>C
|
rs2141288458
|
|
NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys)
|
rs2048174582
|
|
NM_001376.5(DYNC1H1):c.489C>T (p.Ser163=)
|
|
|
NM_001376.5(DYNC1H1):c.4905A>G (p.Glu1635=)
|
|
|
NM_001376.5(DYNC1H1):c.4911G>A (p.Leu1637=)
|
|
|
NM_001376.5(DYNC1H1):c.491A>G (p.Tyr164Cys)
|
|
|
NM_001376.5(DYNC1H1):c.4920C>A (p.Ile1640=)
|
rs2141288473
|
|
NM_001376.5(DYNC1H1):c.4941C>T (p.Val1647=)
|
rs748301926
|
|
NM_001376.5(DYNC1H1):c.4944T>C (p.Ala1648=)
|
|
|
NM_001376.5(DYNC1H1):c.4944del (p.Lys1649fs)
|
|
|
NM_001376.5(DYNC1H1):c.4948T>C (p.Leu1650=)
|
rs2141288491
|
|
NM_001376.5(DYNC1H1):c.4986G>C (p.Ser1662=)
|
|
|
NM_001376.5(DYNC1H1):c.4989C>T (p.Ser1663=)
|
rs2048175773
|
|
NM_001376.5(DYNC1H1):c.499G>A (p.Glu167Lys)
|
rs1057031512
|
|
NM_001376.5(DYNC1H1):c.5007T>A (p.Asp1669Glu)
|
|
|
NM_001376.5(DYNC1H1):c.5008A>C (p.Asn1670His)
|
|
|
NM_001376.5(DYNC1H1):c.5013T>C (p.Ser1671=)
|
|
|
NM_001376.5(DYNC1H1):c.5015_5016delinsCA (p.Val1672Ala)
|
|
|
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=)
|
rs1555407893
|
|
NM_001376.5(DYNC1H1):c.5031A>G (p.Ser1677=)
|
rs1260082505
|
|
NM_001376.5(DYNC1H1):c.5035C>T (p.Arg1679Trp)
|
rs1351401023
|
|
NM_001376.5(DYNC1H1):c.5049+10T>C
|
|
|
NM_001376.5(DYNC1H1):c.5049+14C>T
|
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5049+5A>G
|
rs2048176551
|
|
NM_001376.5(DYNC1H1):c.5049+5del
|
rs936106375
|
|
NM_001376.5(DYNC1H1):c.5049+8T>C
|
rs2141288581
|
|
NM_001376.5(DYNC1H1):c.5049+9A>G
|
rs1595611149
|
|
NM_001376.5(DYNC1H1):c.5050-12T>C
|
|
|
NM_001376.5(DYNC1H1):c.5050-18A>T
|
rs2141288628
|
|
NM_001376.5(DYNC1H1):c.5050-8T>G
|
rs2141288642
|
|
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val)
|
rs1555409556
|
|
NM_001376.5(DYNC1H1):c.5067T>A (p.Pro1689=)
|
rs1195286511
|
|
NM_001376.5(DYNC1H1):c.5083C>T (p.His1695Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.5088C>T (p.Pro1696=)
|
rs2141288675
|
|
NM_001376.5(DYNC1H1):c.50A>G (p.Glu17Gly)
|
|
|
NM_001376.5(DYNC1H1):c.5110T>C (p.Leu1704=)
|
rs762507155
|
|
NM_001376.5(DYNC1H1):c.5123A>T (p.Glu1708Val)
|
rs2141288705
|
|
NM_001376.5(DYNC1H1):c.5133C>T (p.Val1711=)
|
rs2141288709
|
|
NM_001376.5(DYNC1H1):c.5137C>T (p.Leu1713=)
|
rs2141288714
|
|
NM_001376.5(DYNC1H1):c.5142C>G (p.Ala1714=)
|
|
|
NM_001376.5(DYNC1H1):c.5146C>T (p.Leu1716=)
|
rs1595611257
|
|
NM_001376.5(DYNC1H1):c.5154T>C (p.Ala1718=)
|
rs1223866819
|
|
NM_001376.5(DYNC1H1):c.5157G>A (p.Glu1719=)
|
rs2141288725
|
|
NM_001376.5(DYNC1H1):c.5160T>C (p.Ser1720=)
|
|
|
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)
|
rs1555409563
|
|
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
|
rs369232191
|
|
NM_001376.5(DYNC1H1):c.516C>T (p.Asp172=)
|
|
|
NM_001376.5(DYNC1H1):c.517A>G (p.Arg173Gly)
|
rs1465527547
|
|
NM_001376.5(DYNC1H1):c.518+13G>A
|
|
|
NM_001376.5(DYNC1H1):c.518+19A>G
|
|
|
NM_001376.5(DYNC1H1):c.518+4A>G
|
|
|
NM_001376.5(DYNC1H1):c.518+9T>A
|
|
|
NM_001376.5(DYNC1H1):c.519-13A>C
|
|
|
NM_001376.5(DYNC1H1):c.519-20G>C
|
|
|
NM_001376.5(DYNC1H1):c.519-4T>C
|
rs1239766414
|
|
NM_001376.5(DYNC1H1):c.5191A>G (p.Thr1731Ala)
|
|
|
NM_001376.5(DYNC1H1):c.5192C>T (p.Thr1731Ile)
|
rs2141288753
|
|
NM_001376.5(DYNC1H1):c.5195C>G (p.Ser1732Ter)
|
|
|
NM_001376.5(DYNC1H1):c.51A>G (p.Glu17=)
|
rs1212687831
|
|
NM_001376.5(DYNC1H1):c.5203C>T (p.Pro1735Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5209A>G (p.Thr1737Ala)
|
rs1064797192
|
|
NM_001376.5(DYNC1H1):c.5211C>G (p.Thr1737=)
|
|
|
NM_001376.5(DYNC1H1):c.5211C>T (p.Thr1737=)
|
rs2141288772
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5218A>G (p.Thr1740Ala)
|
|
|
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
|
rs1595597551
|
|
NM_001376.5(DYNC1H1):c.5237A>G (p.Gln1746Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5238+11G>A
|
|
|
NM_001376.5(DYNC1H1):c.5238+6C>G
|
|
|
NM_001376.5(DYNC1H1):c.5238+8A>G
|
rs1405485346
|
|
NM_001376.5(DYNC1H1):c.5239-15T>C
|
|
|
NM_001376.5(DYNC1H1):c.5239-17G>T
|
rs2141288856
|
|
NM_001376.5(DYNC1H1):c.5240C>G (p.Ala1747Gly)
|
|
|
NM_001376.5(DYNC1H1):c.5241C>T (p.Ala1747=)
|
rs2048181042
|
|
NM_001376.5(DYNC1H1):c.5248G>T (p.Val1750Leu)
|
|
|
NM_001376.5(DYNC1H1):c.5254T>C (p.Leu1752=)
|
|
|
NM_001376.5(DYNC1H1):c.5263C>A (p.Gln1755Lys)
|
|
|
NM_001376.5(DYNC1H1):c.5272T>C (p.Trp1758Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5276_5316del (p.Ser1759fs)
|
|
|
NM_001376.5(DYNC1H1):c.5280G>A (p.Glu1760=)
|
|
|
NM_001376.5(DYNC1H1):c.5282A>G (p.Asn1761Ser)
|
rs2048181510
|
|
NM_001376.5(DYNC1H1):c.5283C>T (p.Asn1761=)
|
rs1057523440
|
|
NM_001376.5(DYNC1H1):c.5285T>C (p.Val1762Ala)
|
|
|
NM_001376.5(DYNC1H1):c.5291C>T (p.Thr1764Ile)
|
rs2141288926
|
|
NM_001376.5(DYNC1H1):c.5303G>T (p.Ser1768Ile)
|
|
|
NM_001376.5(DYNC1H1):c.5304C>G (p.Ser1768Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5305A>G (p.Met1769Val)
|
|
|
NM_001376.5(DYNC1H1):c.5307G>C (p.Met1769Ile)
|
rs2141288959
|
|
NM_001376.5(DYNC1H1):c.5314G>A (p.Gly1772Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5328G>T (p.Ala1776=)
|
|
|
NM_001376.5(DYNC1H1):c.5334G>A (p.Leu1778=)
|
|
|
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly)
|
rs773630385
|
|
NM_001376.5(DYNC1H1):c.5349C>T (p.Ser1783=)
|
rs755423105
|
|
NM_001376.5(DYNC1H1):c.5352T>C (p.Asn1784=)
|
|
|
NM_001376.5(DYNC1H1):c.5358G>A (p.Glu1786=)
|
rs2141289032
|
|
NM_001376.5(DYNC1H1):c.5365C>G (p.Leu1789Val)
|
|
|
NM_001376.5(DYNC1H1):c.5369A>G (p.Asn1790Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5370T>C (p.Asn1790=)
|
rs2141289053
|
|
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
|
rs1346194464
|
|
NM_001376.5(DYNC1H1):c.5405C>T (p.Pro1802Leu)
|
|
|
NM_001376.5(DYNC1H1):c.5406A>G (p.Pro1802=)
|
|
|
NM_001376.5(DYNC1H1):c.5417G>A (p.Arg1806Gln)
|
rs2048183544
|
|
NM_001376.5(DYNC1H1):c.5421G>A (p.Lys1807=)
|
rs2141289066
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
NM_001376.5(DYNC1H1):c.5432T>C (p.Leu1811Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5433+11C>T
|
|
|
NM_001376.5(DYNC1H1):c.5433+14C>T
|
|
|
NM_001376.5(DYNC1H1):c.5433+14del
|
rs2141289090
|
|
NM_001376.5(DYNC1H1):c.5433+18C>T
|
rs1426122771
|
|
NM_001376.5(DYNC1H1):c.5433G>A (p.Leu1811=)
|
|
|
NM_001376.5(DYNC1H1):c.5433_5433+27dup
|
rs1382359405
|
|
NM_001376.5(DYNC1H1):c.5434-8T>C
|
|
|
NM_001376.5(DYNC1H1):c.543A>C (p.Ser181=)
|
rs1287001828
|
|
NM_001376.5(DYNC1H1):c.5442G>A (p.Glu1814=)
|
|
|
NM_001376.5(DYNC1H1):c.5443T>C (p.Leu1815=)
|
rs1445493379
|
|
NM_001376.5(DYNC1H1):c.544G>T (p.Val182Phe)
|
|
|
NM_001376.5(DYNC1H1):c.5457A>G (p.Arg1819=)
|
|
|
NM_001376.5(DYNC1H1):c.5463T>G (p.Val1821=)
|
|
|
NM_001376.5(DYNC1H1):c.5466A>G (p.Thr1822=)
|
|
|
NM_001376.5(DYNC1H1):c.5469G>A (p.Arg1823=)
|
|
|
NM_001376.5(DYNC1H1):c.5485A>C (p.Lys1829Gln)
|
|
|
NM_001376.5(DYNC1H1):c.5486A>G (p.Lys1829Arg)
|
rs2141289585
|
|
NM_001376.5(DYNC1H1):c.5489T>C (p.Ile1830Thr)
|
rs529978859
|
|
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs)
|
rs1555409622
|
|
NM_001376.5(DYNC1H1):c.5497G>A (p.Ala1833Thr)
|
|
|
NM_001376.5(DYNC1H1):c.549A>G (p.Glu183=)
|
|
|
NM_001376.5(DYNC1H1):c.5500A>C (p.Lys1834Gln)
|
|
|
NM_001376.5(DYNC1H1):c.5504C>A (p.Ser1835Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.5515C>G (p.Leu1839Val)
|
|
|
NM_001376.5(DYNC1H1):c.5519G>T (p.Ser1840Ile)
|
rs2141289622
|
|
NM_001376.5(DYNC1H1):c.5527C>T (p.Arg1843Ter)
|
rs2048192622
|
|
NM_001376.5(DYNC1H1):c.5533T>C (p.Tyr1845His)
|
rs2141289638
|
|
NM_001376.5(DYNC1H1):c.5551A>T (p.Thr1851Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5564A>G (p.Gln1855Arg)
|
rs1164357880
|
|
NM_001376.5(DYNC1H1):c.5572T>A (p.Ser1858Thr)
|
|
|
NM_001376.5(DYNC1H1):c.5594A>C (p.Lys1865Thr)
|
|
|
NM_001376.5(DYNC1H1):c.5595A>T (p.Lys1865Asn)
|
|
|
NM_001376.5(DYNC1H1):c.5604T>C (p.Tyr1868=)
|
|
|
NM_001376.5(DYNC1H1):c.5613G>A (p.Glu1871=)
|
rs2141289679
|
|
NM_001376.5(DYNC1H1):c.5619G>C (p.Leu1873=)
|
|
|
NM_001376.5(DYNC1H1):c.5624T>C (p.Val1875Ala)
|
|
|
NM_001376.5(DYNC1H1):c.5626C>G (p.Gln1876Glu)
|
|
|
NM_001376.5(DYNC1H1):c.5646C>T (p.Thr1882=)
|
|
|
NM_001376.5(DYNC1H1):c.5650dup (p.Leu1884fs)
|
|
|
NM_001376.5(DYNC1H1):c.5655T>G (p.Thr1885=)
|
rs538791873
|
|
NM_001376.5(DYNC1H1):c.5659C>A (p.Arg1887Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)
|
rs748999002
|
|
NM_001376.5(DYNC1H1):c.5685C>T (p.Ala1895=)
|
|
|
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=)
|
rs552313071
|
|
NM_001376.5(DYNC1H1):c.5716+12C>T
|
rs2141289754
|
|
NM_001376.5(DYNC1H1):c.5716+19C>G
|
rs2048194233
|
|
NM_001376.5(DYNC1H1):c.5716+8C>G
|
|
|
NM_001376.5(DYNC1H1):c.5717-16G>A
|
|
|
NM_001376.5(DYNC1H1):c.5717-19G>A
|
|
|
NM_001376.5(DYNC1H1):c.5717-19_5717-18del
|
|
|
NM_001376.5(DYNC1H1):c.5717-20T>C
|
|
|
NM_001376.5(DYNC1H1):c.5717-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.5717-7T>G
|
rs2141290370
|
|
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=)
|
rs1555409674
|
|
NM_001376.5(DYNC1H1):c.5766G>A (p.Gln1922=)
|
|
|
NM_001376.5(DYNC1H1):c.5766G>C (p.Gln1922His)
|
|
|
NM_001376.5(DYNC1H1):c.5773C>T (p.Arg1925Trp)
|
|
|
NM_001376.5(DYNC1H1):c.5784A>G (p.Leu1928=)
|
rs2141290386
|
|
NM_001376.5(DYNC1H1):c.5797G>A (p.Asp1933Asn)
|
|
|
NM_001376.5(DYNC1H1):c.5799T>C (p.Asp1933=)
|
|
|
NM_001376.5(DYNC1H1):c.57G>A (p.Ser19=)
|
|
|
NM_001376.5(DYNC1H1):c.5811T>C (p.Asp1937=)
|
|
|
NM_001376.5(DYNC1H1):c.5817+12T>C
|
|
|
NM_001376.5(DYNC1H1):c.5817+12del
|
|
|
NM_001376.5(DYNC1H1):c.5817+20C>T
|
|
|
NM_001376.5(DYNC1H1):c.5817+7C>T
|
|
|
NM_001376.5(DYNC1H1):c.5817+8A>G
|
|
|
NM_001376.5(DYNC1H1):c.5817+9C>T
|
|
|
NM_001376.5(DYNC1H1):c.5828G>A (p.Arg1943Gln)
|
rs372377918
|
|
NM_001376.5(DYNC1H1):c.5828G>T (p.Arg1943Leu)
|
rs372377918
|
|
NM_001376.5(DYNC1H1):c.585C>T (p.His195=)
|
|
|
NM_001376.5(DYNC1H1):c.5861G>A (p.Trp1954Ter)
|
|
|
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
|
|
|
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys)
|
rs879253881
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
NM_001376.5(DYNC1H1):c.5906C>T (p.Ser1969Leu)
|
rs2141291313
|
|
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=)
|
rs758999145
|
|
NM_001376.5(DYNC1H1):c.5934A>T (p.Ile1978=)
|
|
|
NM_001376.5(DYNC1H1):c.5945T>G (p.Leu1982Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5947C>T (p.Arg1983Cys)
|
rs866013244
|
|
NM_001376.5(DYNC1H1):c.5948G>A (p.Arg1983His)
|
|
|
NM_001376.5(DYNC1H1):c.5960A>G (p.Asn1987Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5960A>T (p.Asn1987Ile)
|
rs957164618
|
|
NM_001376.5(DYNC1H1):c.5961C>T (p.Asn1987=)
|
|
|
NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del)
|
rs1278877639
|
|
NM_001376.5(DYNC1H1):c.5977+10C>G
|
rs1196167446
|
|
NM_001376.5(DYNC1H1):c.5977+15C>G
|
|
|
NM_001376.5(DYNC1H1):c.5977+6A>C
|
|
|
NM_001376.5(DYNC1H1):c.5978-14C>T
|
|
|
NM_001376.5(DYNC1H1):c.5978-16A>G
|
|
|
NM_001376.5(DYNC1H1):c.5978-20C>T
|
|
|
NM_001376.5(DYNC1H1):c.5978-8A>G
|
|
|
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val)
|
rs1566996430
|
|
NM_001376.5(DYNC1H1):c.5996G>A (p.Cys1999Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.6011A>G (p.Lys2004Arg)
|
|
|
NM_001376.5(DYNC1H1):c.6026G>T (p.Ser2009Ile)
|
|
|
NM_001376.5(DYNC1H1):c.6028C>G (p.Pro2010Ala)
|
rs2048239251
|
|
NM_001376.5(DYNC1H1):c.6033C>T (p.Asp2011=)
|
rs1567010039
|
|
NM_001376.5(DYNC1H1):c.6034A>G (p.Met2012Val)
|
|
|
NM_001376.5(DYNC1H1):c.603A>C (p.Glu201Asp)
|
rs2141269718
|
|
NM_001376.5(DYNC1H1):c.6042C>T (p.Ile2014=)
|
rs2152577495
|
|
NM_001376.5(DYNC1H1):c.6043T>C (p.Phe2015Leu)
|
rs2152577497
|
|
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
|
rs2048239365
|
|
NM_001376.5(DYNC1H1):c.6063C>A (p.Gly2021=)
|
rs567653098
|
|
NM_001376.5(DYNC1H1):c.6068C>T (p.Ala2023Val)
|
|
|
NM_001376.5(DYNC1H1):c.608C>T (p.Pro203Leu)
|
|
|
NM_001376.5(DYNC1H1):c.6092A>G (p.Asn2031Ser)
|
|
|
NM_001376.5(DYNC1H1):c.60C>A (p.Ala20=)
|
|
|
NM_001376.5(DYNC1H1):c.6109C>T (p.Arg2037Trp)
|
rs2048239679
|
|
NM_001376.5(DYNC1H1):c.6125C>A (p.Thr2042Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6126C>G (p.Thr2042=)
|
|
|
NM_001376.5(DYNC1H1):c.6132C>T (p.Pro2044=)
|
|
|
NM_001376.5(DYNC1H1):c.6133G>A (p.Asp2045Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6135C>T (p.Asp2045=)
|
|
|
NM_001376.5(DYNC1H1):c.6136C>A (p.Arg2046=)
|
|
|
NM_001376.5(DYNC1H1):c.6137G>A (p.Arg2046Gln)
|
|
|
NM_001376.5(DYNC1H1):c.6144A>G (p.Leu2048=)
|
|
|
NM_001376.5(DYNC1H1):c.6147C>T (p.Ile2049=)
|
rs752707211
|
|
NM_001376.5(DYNC1H1):c.6162G>A (p.Leu2054=)
|
|
|
NM_001376.5(DYNC1H1):c.6207C>A (p.Ile2069=)
|
|
|
NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile)
|
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.6215T>C (p.Phe2072Ser)
|
|
|
NM_001376.5(DYNC1H1):c.621G>A (p.Leu207=)
|
rs2141269726
|
|
NM_001376.5(DYNC1H1):c.6221+15A>G
|
|
|
NM_001376.5(DYNC1H1):c.6222-16T>C
|
|
|
NM_001376.5(DYNC1H1):c.6222-20C>A
|
rs200368499
|
|
NM_001376.5(DYNC1H1):c.6222-20C>T
|
rs200368499
|
|
NM_001376.5(DYNC1H1):c.6222-9_6222-7del
|
rs747347010
|
|
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val)
|
rs1555407906
|
|
NM_001376.5(DYNC1H1):c.6255T>C (p.His2085=)
|
|
|
NM_001376.5(DYNC1H1):c.6258T>C (p.Tyr2086=)
|
rs1254207934
|
|
NM_001376.5(DYNC1H1):c.6272G>C (p.Arg2091Pro)
|
|
|
NM_001376.5(DYNC1H1):c.6274G>T (p.Ala2092Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6282G>A (p.Lys2094=)
|
|
|
NM_001376.5(DYNC1H1):c.6287_6288del (p.Val2096fs)
|
|
|
NM_001376.5(DYNC1H1):c.6291G>A (p.Leu2097=)
|
rs2048244099
|
|
NM_001376.5(DYNC1H1):c.6300A>G (p.Ala2100=)
|
|
|
NM_001376.5(DYNC1H1):c.6300A>T (p.Ala2100=)
|
|
|
NM_001376.5(DYNC1H1):c.6306T>C (p.Asn2102=)
|
|
|
NM_001376.5(DYNC1H1):c.6307G>A (p.Val2103Met)
|
|
|
NM_001376.5(DYNC1H1):c.6324C>A (p.Ile2108=)
|
|
|
NM_001376.5(DYNC1H1):c.6333A>G (p.Ile2111Met)
|
|
|
NM_001376.5(DYNC1H1):c.6343A>C (p.Lys2115Gln)
|
rs2152577826
|
|
NM_001376.5(DYNC1H1):c.6347A>G (p.Glu2116Gly)
|
|
|
NM_001376.5(DYNC1H1):c.6348G>A (p.Glu2116=)
|
|
|
NM_001376.5(DYNC1H1):c.634A>T (p.Met212Leu)
|
|
|
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln)
|
rs1060502207
|
|
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
|
rs1595614266
|
|
NM_001376.5(DYNC1H1):c.636G>A (p.Met212Ile)
|
|
|
NM_001376.5(DYNC1H1):c.6376G>A (p.Glu2126Lys)
|
|
|
NM_001376.5(DYNC1H1):c.6381T>G (p.Ile2127Met)
|
|
|
NM_001376.5(DYNC1H1):c.6382G>A (p.Ala2128Thr)
|
|
|
NM_001376.5(DYNC1H1):c.6396T>G (p.Pro2132=)
|
rs1057403701
|
|
NM_001376.5(DYNC1H1):c.639C>T (p.Ile213=)
|
|
|
NM_001376.5(DYNC1H1):c.6405+4_6405+44del
|
rs1266891331
|
|
NM_001376.5(DYNC1H1):c.6405+8A>G
|
rs2152577861
|
|
NM_001376.5(DYNC1H1):c.6405+8dup
|
rs777021940
|
|
NM_001376.5(DYNC1H1):c.6406-12C>G
|
rs565676310
|
|
NM_001376.5(DYNC1H1):c.6406-12C>T
|
|
|
NM_001376.5(DYNC1H1):c.6406-14C>T
|
|
|
NM_001376.5(DYNC1H1):c.6406-15G>A
|
|
|
NM_001376.5(DYNC1H1):c.6406-3T>C
|
|
|
NM_001376.5(DYNC1H1):c.6406-4G>A
|
rs374602014
|
|
NM_001376.5(DYNC1H1):c.6406-4G>C
|
rs374602014
|
|
NM_001376.5(DYNC1H1):c.6406-5C>G
|
|
|
NM_001376.5(DYNC1H1):c.6406-5C>T
|
|
|
NM_001376.5(DYNC1H1):c.641C>T (p.Thr214Ile)
|
rs2141269742
|
|
NM_001376.5(DYNC1H1):c.6420C>T (p.Ser2140=)
|
|
|
NM_001376.5(DYNC1H1):c.6429G>A (p.Glu2143=)
|
rs2152578130
|
|
NM_001376.5(DYNC1H1):c.6431C>T (p.Thr2144Met)
|
|
|
NM_001376.5(DYNC1H1):c.6432G>A (p.Thr2144=)
|
|
|
NM_001376.5(DYNC1H1):c.6446T>G (p.Leu2149Arg)
|
|
|
NM_001376.5(DYNC1H1):c.6447G>C (p.Leu2149=)
|
|
|
NM_001376.5(DYNC1H1):c.6464C>T (p.Pro2155Leu)
|
rs1390255004
|
|
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
|
rs1595597624
|
|
NM_001376.5(DYNC1H1):c.6485C>T (p.Ser2162Leu)
|
|
|
NM_001376.5(DYNC1H1):c.6504C>T (p.Val2168=)
|
|
|
NM_001376.5(DYNC1H1):c.6506A>C (p.Gln2169Pro)
|
|
|
NM_001376.5(DYNC1H1):c.6507G>A (p.Gln2169=)
|
|
|
NM_001376.5(DYNC1H1):c.6507G>T (p.Gln2169His)
|
rs2152578187
|
|
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr)
|
rs1060502208
|
|
NM_001376.5(DYNC1H1):c.6517G>A (p.Gly2173Ser)
|
rs2152578197
|
|
NM_001376.5(DYNC1H1):c.6541G>C (p.Glu2181Gln)
|
|
|
NM_001376.5(DYNC1H1):c.6549G>A (p.Lys2183=)
|
|
|
NM_001376.5(DYNC1H1):c.654A>G (p.Lys218=)
|
rs1595597628
|
|
NM_001376.5(DYNC1H1):c.6550A>G (p.Lys2184Glu)
|
rs2152578236
|
|
NM_001376.5(DYNC1H1):c.6583G>A (p.Asp2195Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6585T>C (p.Asp2195=)
|
|
|
NM_001376.5(DYNC1H1):c.6593A>C (p.Glu2198Ala)
|
|
|
NM_001376.5(DYNC1H1):c.65A>G (p.Gln22Arg)
|
rs2141258494
|
|
NM_001376.5(DYNC1H1):c.6604A>C (p.Met2202Leu)
|
|
|
NM_001376.5(DYNC1H1):c.6604A>G (p.Met2202Val)
|
|
|
NM_001376.5(DYNC1H1):c.660T>C (p.Cys220=)
|
|
|
NM_001376.5(DYNC1H1):c.6611T>C (p.Val2204Ala)
|
|
|
NM_001376.5(DYNC1H1):c.6618+13G>A
|
|
|
NM_001376.5(DYNC1H1):c.6618+16T>A
|
|
|
NM_001376.5(DYNC1H1):c.6618+19C>T
|
|
|
NM_001376.5(DYNC1H1):c.6618+20T>C
|
rs2152578289
|
|
NM_001376.5(DYNC1H1):c.6618+5C>T
|
rs777017923
|
|
NM_001376.5(DYNC1H1):c.6618+6_6618+7del
|
|
|
NM_001376.5(DYNC1H1):c.6618+9G>C
|
|
|
NM_001376.5(DYNC1H1):c.6619-10G>A
|
|
|
NM_001376.5(DYNC1H1):c.6621T>G (p.Val2207=)
|
|
|
NM_001376.5(DYNC1H1):c.6624C>A (p.Leu2208=)
|
rs1454893333
|
|
NM_001376.5(DYNC1H1):c.6636G>T (p.Gln2212His)
|
rs2048263087
|
|
NM_001376.5(DYNC1H1):c.6639C>T (p.Ile2213=)
|
|
|
NM_001376.5(DYNC1H1):c.6645G>A (p.Gln2215=)
|
|
|
NM_001376.5(DYNC1H1):c.6672G>C (p.Gly2224=)
|
|
|
NM_001376.5(DYNC1H1):c.6672G>T (p.Gly2224=)
|
|
|
NM_001376.5(DYNC1H1):c.6678G>A (p.Ser2226=)
|
rs141898156
|
|
NM_001376.5(DYNC1H1):c.6678G>T (p.Ser2226=)
|
rs141898156
|
|
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
|
rs2048263659
|
|
NM_001376.5(DYNC1H1):c.6718G>T (p.Ala2240Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6721T>C (p.Leu2241=)
|
rs1175510296
|
|
NM_001376.5(DYNC1H1):c.6724G>T (p.Glu2242Ter)
|
|
|
NM_001376.5(DYNC1H1):c.6732C>G (p.Leu2244=)
|
|
|
NM_001376.5(DYNC1H1):c.6745G>A (p.Gly2249Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6747T>C (p.Gly2249=)
|
|
|
NM_001376.5(DYNC1H1):c.6759C>T (p.Ile2253=)
|
rs1595615114
|
|
NM_001376.5(DYNC1H1):c.6779G>A (p.Ser2260Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6801C>T (p.Thr2267=)
|
|
|
NM_001376.5(DYNC1H1):c.6807C>T (p.Asp2269=)
|
|
|
NM_001376.5(DYNC1H1):c.6822A>G (p.Glu2274=)
|
rs2152579128
|
|
NM_001376.5(DYNC1H1):c.6828A>G (p.Thr2276=)
|
|
|
NM_001376.5(DYNC1H1):c.682A>G (p.Lys228Glu)
|
rs2141269775
|
|
NM_001376.5(DYNC1H1):c.6847G>A (p.Val2283Met)
|
rs374569905
|
|
NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)
|
rs1232919238
|
|
NM_001376.5(DYNC1H1):c.6857+10_6857+12del
|
rs773209855
|
|
NM_001376.5(DYNC1H1):c.6857+12T>A
|
|
|
NM_001376.5(DYNC1H1):c.6857+17C>G
|
rs2152579172
|
|
NM_001376.5(DYNC1H1):c.6857+23_6857+26del
|
|
|
NM_001376.5(DYNC1H1):c.6857+7C>T
|
rs1433768341
|
|
NM_001376.5(DYNC1H1):c.6857+9_6857+10delinsAA
|
rs1595615156
|
|
NM_001376.5(DYNC1H1):c.6858-14T>A
|
|
|
NM_001376.5(DYNC1H1):c.6858-14del
|
|
|
NM_001376.5(DYNC1H1):c.6858-15dup
|
|
|
NM_001376.5(DYNC1H1):c.6858-9C>G
|
|
|
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val)
|
rs1567010983
|
|
NM_001376.5(DYNC1H1):c.6865G>A (p.Asp2289Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6867C>T (p.Asp2289=)
|
|
|
NM_001376.5(DYNC1H1):c.6871G>A (p.Val2291Met)
|
|
|
NM_001376.5(DYNC1H1):c.6879C>T (p.Gly2293=)
|
|
|
NM_001376.5(DYNC1H1):c.6883_6884delinsGG (p.Leu2295Gly)
|
rs2152579373
|
|
NM_001376.5(DYNC1H1):c.6885G>T (p.Leu2295=)
|
|
|
NM_001376.5(DYNC1H1):c.6892C>T (p.Arg2298Cys)
|
rs2152579378
|
|
NM_001376.5(DYNC1H1):c.6896A>C (p.Gln2299Pro)
|
|
|
NM_001376.5(DYNC1H1):c.6910G>A (p.Asp2304Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6918T>C (p.Asp2306=)
|
rs2152579412
|
|
NM_001376.5(DYNC1H1):c.6928G>A (p.Glu2310Lys)
|
|
|
NM_001376.5(DYNC1H1):c.6933G>A (p.Trp2311Ter)
|
|
|
NM_001376.5(DYNC1H1):c.6936T>A (p.Val2312=)
|
|
|
NM_001376.5(DYNC1H1):c.6939G>A (p.Glu2313=)
|
rs2048268228
|
|
NM_001376.5(DYNC1H1):c.6948C>T (p.Asn2316=)
|
|
|
NM_001376.5(DYNC1H1):c.694T>G (p.Phe232Val)
|
|
|
NM_001376.5(DYNC1H1):c.6964A>G (p.Asn2322Asp)
|
|
|
NM_001376.5(DYNC1H1):c.696T>C (p.Phe232=)
|
rs1037520835
|
|
NM_001376.5(DYNC1H1):c.6977C>G (p.Thr2326Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6979T>C (p.Leu2327=)
|
|
|
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=)
|
rs1555410008
|
|
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)
|
rs1057518961
|
|
NM_001376.5(DYNC1H1):c.6996C>T (p.Arg2332=)
|
|
|
NM_001376.5(DYNC1H1):c.6997C>T (p.Leu2333Phe)
|
rs1131691358
|
|
NM_001376.5(DYNC1H1):c.7000A>T (p.Ser2334Cys)
|
|
|
NM_001376.5(DYNC1H1):c.7003C>A (p.Leu2335Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7007C>T (p.Pro2336Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7011C>G (p.Pro2337=)
|
rs2048268828
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.7014+20T>C
|
|
|
NM_001376.5(DYNC1H1):c.7014+3A>G
|
rs1426193095
|
|
NM_001376.5(DYNC1H1):c.7014+9C>T
|
|
|
NM_001376.5(DYNC1H1):c.7014T>C (p.Asn2338=)
|
|
|
NM_001376.5(DYNC1H1):c.7015-5T>C
|
|
|
NM_001376.5(DYNC1H1):c.7017G>T (p.Val2339=)
|
rs2152581480
|
|
NM_001376.5(DYNC1H1):c.701A>G (p.Asp234Gly)
|
|
|
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
|
rs769311346
|
|
NM_001376.5(DYNC1H1):c.7044G>A (p.Leu2348=)
|
|
|
NM_001376.5(DYNC1H1):c.7047A>C (p.Lys2349Asn)
|
rs765427772
|
|
NM_001376.5(DYNC1H1):c.7052C>T (p.Ala2351Val)
|
|
|
NM_001376.5(DYNC1H1):c.7053G>A (p.Ala2351=)
|
|
|
NM_001376.5(DYNC1H1):c.7053G>C (p.Ala2351=)
|
|
|
NM_001376.5(DYNC1H1):c.7060G>A (p.Ala2354Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7062C>T (p.Ala2354=)
|
|
|
NM_001376.5(DYNC1H1):c.7068G>T (p.Val2356=)
|
rs188714917
|
|
NM_001376.5(DYNC1H1):c.7070C>T (p.Ser2357Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys)
|
rs879254019
|
|
NM_001376.5(DYNC1H1):c.7092C>T (p.Phe2364=)
|
rs757662901
|
|
NM_001376.5(DYNC1H1):c.7102G>A (p.Val2368Met)
|
|
|
NM_001376.5(DYNC1H1):c.7118T>A (p.Met2373Lys)
|
|
|
NM_001376.5(DYNC1H1):c.7125C>A (p.Phe2375Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7134C>T (p.Phe2378=)
|
rs1426620213
|
|
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=)
|
rs2048305907
|
|
NM_001376.5(DYNC1H1):c.7139C>T (p.Ala2380Val)
|
|
|
NM_001376.5(DYNC1H1):c.7148G>T (p.Arg2383Leu)
|
|
|
NM_001376.5(DYNC1H1):c.714C>T (p.Asp238=)
|
|
|
NM_001376.5(DYNC1H1):c.7155C>T (p.Ile2385=)
|
|
|
NM_001376.5(DYNC1H1):c.7158G>A (p.Pro2386=)
|
rs773186619
|
|
NM_001376.5(DYNC1H1):c.7158G>C (p.Pro2386=)
|
rs773186619
|
|
NM_001376.5(DYNC1H1):c.7182A>T (p.Ala2394=)
|
rs2152581580
|
|
NM_001376.5(DYNC1H1):c.7185G>T (p.Gln2395His)
|
rs752951988
|
|
NM_001376.5(DYNC1H1):c.7188G>A (p.Arg2396=)
|
rs199686352
|
|
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
|
rs1595616794
|
|
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
|
rs912429154
|
|
NM_001376.5(DYNC1H1):c.719C>T (p.Thr240Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7209T>A (p.Asp2403Glu)
|
rs2048307376
|
|
NM_001376.5(DYNC1H1):c.7212G>C (p.Glu2404Asp)
|
rs779649338
|
|
NM_001376.5(DYNC1H1):c.7212G>T (p.Glu2404Asp)
|
|
|
NM_001376.5(DYNC1H1):c.7213G>C (p.Gly2405Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7215G>A (p.Gly2405=)
|
rs1567012071
|
|
NM_001376.5(DYNC1H1):c.7218G>C (p.Glu2406Asp)
|
rs2152581615
|
|
NM_001376.5(DYNC1H1):c.7235T>C (p.Met2412Thr)
|
rs1296667481
|
|
NM_001376.5(DYNC1H1):c.7242+19C>T
|
rs751848418
|
|
NM_001376.5(DYNC1H1):c.7242+8C>G
|
|
|
NM_001376.5(DYNC1H1):c.7242+8C>T
|
|
|
NM_001376.5(DYNC1H1):c.7243-15C>T
|
|
|
NM_001376.5(DYNC1H1):c.7243-17C>T
|
|
|
NM_001376.5(DYNC1H1):c.7243-9A>G
|
|
|
NM_001376.5(DYNC1H1):c.7250G>A (p.Arg2417Lys)
|
rs927181915
|
|
NM_001376.5(DYNC1H1):c.7256C>T (p.Ala2419Val)
|
|
|
NM_001376.5(DYNC1H1):c.7257A>G (p.Ala2419=)
|
|
|
NM_001376.5(DYNC1H1):c.7266C>A (p.Ile2422=)
|
rs2152581938
|
|
NM_001376.5(DYNC1H1):c.7267A>G (p.Met2423Val)
|
|
|
NM_001376.5(DYNC1H1):c.7268T>C (p.Met2423Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7286C>G (p.Ser2429Cys)
|
rs1468721324
|
|
NM_001376.5(DYNC1H1):c.7289A>G (p.Asn2430Ser)
|
rs2152581954
|
|
NM_001376.5(DYNC1H1):c.7300A>C (p.Thr2434Pro)
|
rs2152581974
|
|
NM_001376.5(DYNC1H1):c.730C>G (p.Gln244Glu)
|
rs2047843892
|
|
NM_001376.5(DYNC1H1):c.7314G>A (p.Glu2438=)
|
rs2152581987
|
|
NM_001376.5(DYNC1H1):c.7318G>A (p.Ala2440Thr)
|
rs757980661
|
|
NM_001376.5(DYNC1H1):c.731A>G (p.Gln244Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7329G>A (p.Leu2443=)
|
|
|
NM_001376.5(DYNC1H1):c.7332G>A (p.Glu2444=)
|
|
|
NM_001376.5(DYNC1H1):c.7336A>T (p.Ile2446Phe)
|
|
|
NM_001376.5(DYNC1H1):c.7352G>A (p.Arg2451His)
|
|
|
NM_001376.5(DYNC1H1):c.7356G>T (p.Leu2452=)
|
|
|
NM_001376.5(DYNC1H1):c.7357C>T (p.Arg2453Cys)
|
|
|
NM_001376.5(DYNC1H1):c.7366G>A (p.Gly2456Ser)
|
|
|
NM_001376.5(DYNC1H1):c.7370C>T (p.Ser2457Leu)
|
rs2152582020
|
|
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe)
|
rs1161281176
|
|
NM_001376.5(DYNC1H1):c.7386G>A (p.Leu2462=)
|
|
|
NM_001376.5(DYNC1H1):c.7392G>A (p.Gln2464=)
|
rs2152582036
|
|
NM_001376.5(DYNC1H1):c.739T>C (p.Ser247Pro)
|
|
|
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
|
rs1595590120
|
|
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His)
|
rs1441059709
|
|
NM_001376.5(DYNC1H1):c.7400G>T (p.Arg2467Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7401C>T (p.Arg2467=)
|
|
|
NM_001376.5(DYNC1H1):c.7404C>T (p.Asn2468=)
|
rs1221226371
|
|
NM_001376.5(DYNC1H1):c.7405G>A (p.Val2469Met)
|
rs2152582047
|
|
NM_001376.5(DYNC1H1):c.7409C>G (p.Ala2470Gly)
|
|
|
NM_001376.5(DYNC1H1):c.7409C>T (p.Ala2470Val)
|
rs774419538
|
|
NM_001376.5(DYNC1H1):c.7410G>T (p.Ala2470=)
|
rs139109090
|
|
NM_001376.5(DYNC1H1):c.7412A>G (p.Gln2471Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7426C>T (p.His2476Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.7434C>A (p.Asp2478Glu)
|
|
|
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala)
|
rs1018948570
|
|
NM_001376.5(DYNC1H1):c.7439C>T (p.Pro2480Leu)
|
rs1229845145
|
|
NM_001376.5(DYNC1H1):c.7448T>C (p.Ile2483Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7449C>A (p.Ile2483=)
|
rs17541158
|
|
NM_001376.5(DYNC1H1):c.7456C>T (p.Leu2486=)
|
|
|
NM_001376.5(DYNC1H1):c.7473+12T>G
|
|
|
NM_001376.5(DYNC1H1):c.7473+18G>A
|
rs1221788075
|
|
NM_001376.5(DYNC1H1):c.7473+3C>T
|
rs2048318089
|
|
NM_001376.5(DYNC1H1):c.7473+6G>A
|
rs1277006617
|
|
NM_001376.5(DYNC1H1):c.7473+6G>T
|
|
|
NM_001376.5(DYNC1H1):c.7474-12C>T
|
|
|
NM_001376.5(DYNC1H1):c.7474-3T>A
|
|
|
NM_001376.5(DYNC1H1):c.7474C>A (p.Arg2492=)
|
|
|
NM_001376.5(DYNC1H1):c.7479T>C (p.Tyr2493=)
|
|
|
NM_001376.5(DYNC1H1):c.7492A>T (p.Ile2498Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7497C>G (p.Leu2499=)
|
|
|
NM_001376.5(DYNC1H1):c.7502C>T (p.Ser2501Phe)
|
rs2152582351
|
|
NM_001376.5(DYNC1H1):c.750C>T (p.Asn250=)
|
rs1595597676
|
|
NM_001376.5(DYNC1H1):c.7515C>T (p.Asp2505=)
|
|
|
NM_001376.5(DYNC1H1):c.751C>A (p.Arg251Ser)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.7529T>C (p.Met2510Thr)
|
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001376.5(DYNC1H1):c.7536A>T (p.Ala2512=)
|
|
|
NM_001376.5(DYNC1H1):c.7539G>A (p.Glu2513=)
|
|
|
NM_001376.5(DYNC1H1):c.7543G>A (p.Gly2515Ser)
|
rs753894340
|
|
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
|
rs1567012503
|
|
NM_001376.5(DYNC1H1):c.7559G>A (p.Arg2520Lys)
|
rs985261953
|
|
NM_001376.5(DYNC1H1):c.7582A>G (p.Thr2528Ala)
|
|
|
NM_001376.5(DYNC1H1):c.7583C>G (p.Thr2528Ser)
|
rs370219646
|
|
NM_001376.5(DYNC1H1):c.7592A>G (p.Asn2531Ser)
|
|
|
NM_001376.5(DYNC1H1):c.7594A>G (p.Ile2532Val)
|
|
|
NM_001376.5(DYNC1H1):c.75G>A (p.Ala25=)
|
|
|
NM_001376.5(DYNC1H1):c.7600A>G (p.Ile2534Val)
|
rs1778579601
|
|
NM_001376.5(DYNC1H1):c.7611T>C (p.Tyr2537=)
|
rs2152582431
|
|
NM_001376.5(DYNC1H1):c.7614+6C>T
|
rs1567012532
|
|
NM_001376.5(DYNC1H1):c.7615-12C>A
|
|
|
NM_001376.5(DYNC1H1):c.7615-14A>G
|
|
|
NM_001376.5(DYNC1H1):c.7615-14A>T
|
|
|
NM_001376.5(DYNC1H1):c.7615-15C>T
|
|
|
NM_001376.5(DYNC1H1):c.7615-20A>G
|
|
|
NM_001376.5(DYNC1H1):c.7615-8G>C
|
rs375161806
|
|
NM_001376.5(DYNC1H1):c.7621A>G (p.Ile2541Val)
|
|
|
NM_001376.5(DYNC1H1):c.7625G>A (p.Ser2542Asn)
|
|
|
NM_001376.5(DYNC1H1):c.7638T>C (p.Ser2546=)
|
|
|
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)
|
rs1057518888
|
|
NM_001376.5(DYNC1H1):c.7641G>A (p.Pro2547=)
|
|
|
NM_001376.5(DYNC1H1):c.7649C>T (p.Ala2550Val)
|
|
|
NM_001376.5(DYNC1H1):c.7659T>C (p.Pro2553=)
|
|
|
NM_001376.5(DYNC1H1):c.7677G>A (p.Thr2559=)
|
|
|
NM_001376.5(DYNC1H1):c.7679A>G (p.His2560Arg)
|
rs1567012734
|
|
NM_001376.5(DYNC1H1):c.7681A>G (p.Lys2561Glu)
|
|
|
NM_001376.5(DYNC1H1):c.7698T>C (p.Asp2566=)
|
|
|
NM_001376.5(DYNC1H1):c.7702G>A (p.Val2568Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7704C>T (p.Val2568=)
|
|
|
NM_001376.5(DYNC1H1):c.7711A>G (p.Thr2571Ala)
|
|
|
NM_001376.5(DYNC1H1):c.7713G>A (p.Thr2571=)
|
|
|
NM_001376.5(DYNC1H1):c.7713G>T (p.Thr2571=)
|
rs767434648
|
|
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys)
|
rs2048329586
|
|
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
|
rs756288729
|
|
NM_001376.5(DYNC1H1):c.7729C>T (p.His2577Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.7731C>T (p.His2577=)
|
|
|
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys)
|
rs749628606
|
|
NM_001376.5(DYNC1H1):c.7737C>T (p.Ala2579=)
|
|
|
NM_001376.5(DYNC1H1):c.774+10C>T
|
rs2141269842
|
|
NM_001376.5(DYNC1H1):c.774+2_774+5del
|
|
|
NM_001376.5(DYNC1H1):c.7749T>C (p.Thr2583=)
|
rs2152582718
|
|
NM_001376.5(DYNC1H1):c.775-16T>C
|
|
|
NM_001376.5(DYNC1H1):c.775-8T>A
|
rs2141270130
|
|
NM_001376.5(DYNC1H1):c.7758C>G (p.Ala2586=)
|
rs145487328
|
|
NM_001376.5(DYNC1H1):c.7768C>G (p.Pro2590Ala)
|
rs2152582733
|
|
NM_001376.5(DYNC1H1):c.7789C>T (p.Pro2597Ser)
|
rs2048330369
|
|
NM_001376.5(DYNC1H1):c.780_788del (p.Lys261_Asp263del)
|
|
|
NM_001376.5(DYNC1H1):c.7818C>T (p.Phe2606=)
|
rs894300624
|
|
NM_001376.5(DYNC1H1):c.7825C>T (p.Leu2609Phe)
|
|
|
NM_001376.5(DYNC1H1):c.7828C>T (p.Arg2610Trp)
|
|
|
NM_001376.5(DYNC1H1):c.7842C>T (p.Asp2614=)
|
|
|
NM_001376.5(DYNC1H1):c.7843A>C (p.Met2615Leu)
|
rs1207825074
|
|
NM_001376.5(DYNC1H1):c.7848+13G>A
|
rs1451487950
|
|
NM_001376.5(DYNC1H1):c.7848+13G>C
|
|
|
NM_001376.5(DYNC1H1):c.7848+15del
|
|
|
NM_001376.5(DYNC1H1):c.7848+6G>C
|
|
|
NM_001376.5(DYNC1H1):c.7848+9G>A
|
|
|
NM_001376.5(DYNC1H1):c.7848+9G>T
|
|
|
NM_001376.5(DYNC1H1):c.7849-13C>T
|
|
|
NM_001376.5(DYNC1H1):c.7849-15G>A
|
|
|
NM_001376.5(DYNC1H1):c.7849-7T>G
|
rs2048332125
|
|
NM_001376.5(DYNC1H1):c.7849-8C>T
|
|
|
NM_001376.5(DYNC1H1):c.7851G>A (p.Val2617=)
|
rs1041508059
|
|
NM_001376.5(DYNC1H1):c.7860C>T (p.Leu2620=)
|
|
|
NM_001376.5(DYNC1H1):c.7879A>G (p.Thr2627Ala)
|
|
|
NM_001376.5(DYNC1H1):c.7884A>G (p.Pro2628=)
|
rs797045534
|
|
NM_001376.5(DYNC1H1):c.7905del (p.Phe2635fs)
|
rs2048332709
|
|
NM_001376.5(DYNC1H1):c.790C>T (p.Arg264Ter)
|
|
|
NM_001376.5(DYNC1H1):c.7912T>C (p.Tyr2638His)
|
rs2048332764
|
|
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
|
rs797045535
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.7920G>A (p.Glu2640=)
|
rs140949915
|
|
NM_001376.5(DYNC1H1):c.7925G>A (p.Arg2642Lys)
|
rs1336516693
|
|
NM_001376.5(DYNC1H1):c.7932A>T (p.Thr2644=)
|
|
|
NM_001376.5(DYNC1H1):c.7935T>C (p.Pro2645=)
|
|
|
NM_001376.5(DYNC1H1):c.7937A>T (p.Asn2646Ile)
|
rs2048333160
|
|
NM_001376.5(DYNC1H1):c.7941G>A (p.Gly2647=)
|
|
|
NM_001376.5(DYNC1H1):c.7941G>T (p.Gly2647=)
|
|
|
NM_001376.5(DYNC1H1):c.7945G>A (p.Val2649Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr)
|
rs1240479409
|
|
NM_001376.5(DYNC1H1):c.7953T>G (p.Ala2651=)
|
|
|
NM_001376.5(DYNC1H1):c.7957G>C (p.Val2653Leu)
|
rs1208612980
|
|
NM_001376.5(DYNC1H1):c.7962A>G (p.Gln2654=)
|
|
|
NM_001376.5(DYNC1H1):c.7966G>A (p.Gly2656Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7968A>G (p.Gly2656=)
|
rs2048333565
|
|
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu)
|
rs2047849651
|
|
NM_001376.5(DYNC1H1):c.7980G>A (p.Val2660=)
|
|
|
NM_001376.5(DYNC1H1):c.7981T>G (p.Leu2661Val)
|
rs367991209
|
|
NM_001376.5(DYNC1H1):c.7983G>A (p.Leu2661=)
|
|
|
NM_001376.5(DYNC1H1):c.7998C>T (p.Ile2666=)
|
|
|
NM_001376.5(DYNC1H1):c.799G>A (p.Ala267Thr)
|
rs2141270143
|
|
NM_001376.5(DYNC1H1):c.8002T>C (p.Leu2668=)
|
|
|
NM_001376.5(DYNC1H1):c.8012T>C (p.Met2671Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8013G>A (p.Met2671Ile)
|
|
|
NM_001376.5(DYNC1H1):c.8025G>A (p.Gly2675=)
|
|
|
NM_001376.5(DYNC1H1):c.8025G>C (p.Gly2675=)
|
|
|
NM_001376.5(DYNC1H1):c.8028C>G (p.Thr2676=)
|
|
|
NM_001376.5(DYNC1H1):c.802T>C (p.Ser268Pro)
|
|
|
NM_001376.5(DYNC1H1):c.8031G>A (p.Gln2677=)
|
|
|
NM_001376.5(DYNC1H1):c.8040A>T (p.Ile2680=)
|
rs924317887
|
|
NM_001376.5(DYNC1H1):c.8052A>G (p.Arg2684=)
|
|
|
NM_001376.5(DYNC1H1):c.8055+6T>A
|
rs766505305
|
|
NM_001376.5(DYNC1H1):c.8055+7T>G
|
|
|
NM_001376.5(DYNC1H1):c.8056-12C>T
|
|
|
NM_001376.5(DYNC1H1):c.8056-9T>A
|
|
|
NM_001376.5(DYNC1H1):c.8056A>T (p.Met2686Leu)
|
|
|
NM_001376.5(DYNC1H1):c.805G>C (p.Gly269Arg)
|
|
|
NM_001376.5(DYNC1H1):c.8067C>T (p.His2689=)
|
|
|
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg)
|
rs1555410313
|
|
NM_001376.5(DYNC1H1):c.8070A>G (p.Gly2690=)
|
|
|
NM_001376.5(DYNC1H1):c.8077T>C (p.Tyr2693His)
|
rs2152583009
|
|
NM_001376.5(DYNC1H1):c.8078A>G (p.Tyr2693Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8082T>C (p.Arg2694=)
|
rs2152583019
|
|
NM_001376.5(DYNC1H1):c.8110G>A (p.Glu2704Lys)
|
|
|
NM_001376.5(DYNC1H1):c.8118C>A (p.Ile2706=)
|
rs1595617981
|
|
NM_001376.5(DYNC1H1):c.8121G>A (p.Gln2707=)
|
rs1595617984
|
|
NM_001376.5(DYNC1H1):c.8157A>G (p.Gly2719=)
|
rs2152583049
|
|
NM_001376.5(DYNC1H1):c.8165C>A (p.Pro2722His)
|
|
|
NM_001376.5(DYNC1H1):c.8166C>G (p.Pro2722=)
|
|
|
NM_001376.5(DYNC1H1):c.8169C>G (p.Leu2723=)
|
rs2152583056
|
|
NM_001376.5(DYNC1H1):c.8176A>C (p.Arg2726=)
|
rs1285457241
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8177+13G>C
|
|
|
NM_001376.5(DYNC1H1):c.8177+18A>G
|
|
|
NM_001376.5(DYNC1H1):c.8178-12A>C
|
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8178-18G>A
|
|
|
NM_001376.5(DYNC1H1):c.8178-19C>T
|
rs755564157
|
|
NM_001376.5(DYNC1H1):c.8178-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.8178-7_8178-6del
|
rs902295597
|
|
NM_001376.5(DYNC1H1):c.8178-8G>A
|
|
|
NM_001376.5(DYNC1H1):c.8194C>T (p.Pro2732Ser)
|
|
|
NM_001376.5(DYNC1H1):c.819G>A (p.Gln273=)
|
|
|
NM_001376.5(DYNC1H1):c.8202G>C (p.Val2734=)
|
rs202023896
|
|
NM_001376.5(DYNC1H1):c.8230C>G (p.Leu2744Val)
|
|
|
NM_001376.5(DYNC1H1):c.8232C>T (p.Leu2744=)
|
|
|
NM_001376.5(DYNC1H1):c.8233A>C (p.Thr2745Pro)
|
|
|
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys)
|
rs2048350905
|
|
NM_001376.5(DYNC1H1):c.8274C>T (p.Leu2758=)
|
|
|
NM_001376.5(DYNC1H1):c.8283_8284delinsAG (p.Leu2762Val)
|
|
|
NM_001376.5(DYNC1H1):c.8284C>T (p.Leu2762=)
|
|
|
NM_001376.5(DYNC1H1):c.8289G>A (p.Arg2763=)
|
|
|
NM_001376.5(DYNC1H1):c.8289G>T (p.Arg2763=)
|
|
|
NM_001376.5(DYNC1H1):c.8303C>T (p.Pro2768Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8325G>A (p.Glu2775=)
|
|
|
NM_001376.5(DYNC1H1):c.8328C>G (p.Phe2776Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8343+19C>G
|
rs2152583858
|
|
NM_001376.5(DYNC1H1):c.8343+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.8343+5G>T
|
|
|
NM_001376.5(DYNC1H1):c.8344-17T>C
|
|
|
NM_001376.5(DYNC1H1):c.8344-6C>T
|
|
|
NM_001376.5(DYNC1H1):c.8367A>G (p.Gln2789=)
|
rs1386906135
|
|
NM_001376.5(DYNC1H1):c.8377A>G (p.Ile2793Val)
|
|
|
NM_001376.5(DYNC1H1):c.837A>G (p.Leu279=)
|
|
|
NM_001376.5(DYNC1H1):c.8389C>G (p.Arg2797Gly)
|
|
|
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)
|
rs2152584603
|
|
NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp)
|
rs765882472
|
|
NM_001376.5(DYNC1H1):c.8400T>A (p.Thr2800=)
|
|
|
NM_001376.5(DYNC1H1):c.8400T>C (p.Thr2800=)
|
|
|
NM_001376.5(DYNC1H1):c.8416A>G (p.Ile2806Val)
|
rs777184216
|
|
NM_001376.5(DYNC1H1):c.8424A>G (p.Glu2808=)
|
|
|
NM_001376.5(DYNC1H1):c.8425G>A (p.Ala2809Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8448G>A (p.Leu2816=)
|
|
|
NM_001376.5(DYNC1H1):c.8461C>G (p.Leu2821Val)
|
rs2048366964
|
|
NM_001376.5(DYNC1H1):c.8463C>G (p.Leu2821=)
|
|
|
NM_001376.5(DYNC1H1):c.8467C>T (p.Arg2823Trp)
|
rs1248835520
|
|
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys)
|
rs764341361
|
|
NM_001376.5(DYNC1H1):c.8485G>T (p.Ala2829Ser)
|
|
|
NM_001376.5(DYNC1H1):c.8486C>T (p.Ala2829Val)
|
rs2048367270
|
|
NM_001376.5(DYNC1H1):c.8487T>C (p.Ala2829=)
|
rs2152584655
|
|
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
|
rs1595597922
|
|
NM_001376.5(DYNC1H1):c.8492G>A (p.Arg2831His)
|
rs2152584657
|
|
NM_001376.5(DYNC1H1):c.8499C>T (p.Phe2833=)
|
rs1255566403
|
|
NM_001376.5(DYNC1H1):c.8507+10_8507+11del
|
|
|
NM_001376.5(DYNC1H1):c.8507+12C>T
|
|
|
NM_001376.5(DYNC1H1):c.8507+19C>A
|
|
|
NM_001376.5(DYNC1H1):c.8507G>A (p.Arg2836Lys)
|
rs2048367430
|
|
NM_001376.5(DYNC1H1):c.8508-10C>T
|
|
|
NM_001376.5(DYNC1H1):c.8508-19C>T
|
|
|
NM_001376.5(DYNC1H1):c.8508-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.8508-4A>G
|
|
|
NM_001376.5(DYNC1H1):c.8508-8C>T
|
|
|
NM_001376.5(DYNC1H1):c.8511C>T (p.Leu2837=)
|
|
|
NM_001376.5(DYNC1H1):c.8512G>A (p.Val2838Ile)
|
|
|
NM_001376.5(DYNC1H1):c.8517G>C (p.Glu2839Asp)
|
|
|
NM_001376.5(DYNC1H1):c.8523G>C (p.Glu2841Asp)
|
|
|
NM_001376.5(DYNC1H1):c.8528G>A (p.Arg2843Lys)
|
|
|
NM_001376.5(DYNC1H1):c.8529G>A (p.Arg2843=)
|
|
|
NM_001376.5(DYNC1H1):c.8530C>T (p.Arg2844Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys)
|
rs2048401118
|
|
NM_001376.5(DYNC1H1):c.8538T>C (p.Thr2846=)
|
|
|
NM_001376.5(DYNC1H1):c.8548A>G (p.Ile2850Val)
|
|
|
NM_001376.5(DYNC1H1):c.8548A>T (p.Ile2850Phe)
|
|
|
NM_001376.5(DYNC1H1):c.854T>C (p.Leu285Ser)
|
|
|
NM_001376.5(DYNC1H1):c.8550C>A (p.Ile2850=)
|
rs1057523253
|
|
NM_001376.5(DYNC1H1):c.8550C>T (p.Ile2850=)
|
|
|
NM_001376.5(DYNC1H1):c.8565G>A (p.Leu2855=)
|
rs2749899
|
|
NM_001376.5(DYNC1H1):c.8570del (p.His2857fs)
|
|
|
NM_001376.5(DYNC1H1):c.8576C>T (p.Pro2859Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8581A>G (p.Ile2861Val)
|
rs2152586413
|
|
NM_001376.5(DYNC1H1):c.8599A>G (p.Met2867Val)
|
|
|
NM_001376.5(DYNC1H1):c.85G>A (p.Val29Met)
|
|
|
NM_001376.5(DYNC1H1):c.85G>C (p.Val29Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8606G>C (p.Arg2869Pro)
|
|
|
NM_001376.5(DYNC1H1):c.860G>A (p.Arg287His)
|
|
|
NM_001376.5(DYNC1H1):c.8610C>T (p.Pro2870=)
|
rs2152586433
|
|
NM_001376.5(DYNC1H1):c.8616G>A (p.Leu2872=)
|
|
|
NM_001376.5(DYNC1H1):c.8629C>T (p.Leu2877=)
|
|
|
NM_001376.5(DYNC1H1):c.8630T>G (p.Leu2877Arg)
|
|
|
NM_001376.5(DYNC1H1):c.8637+12G>T
|
rs17512551
|
|
NM_001376.5(DYNC1H1):c.8637+17A>G
|
|
|
NM_001376.5(DYNC1H1):c.8638-17_8638-16insC
|
|
|
NM_001376.5(DYNC1H1):c.8638-3T>C
|
|
|
NM_001376.5(DYNC1H1):c.8638-4A>G
|
rs1462780464
|
|
NM_001376.5(DYNC1H1):c.8638-6C>T
|
|
|
NM_001376.5(DYNC1H1):c.8638-6del
|
rs2152588666
|
|
NM_001376.5(DYNC1H1):c.8638-9T>C
|
|
|
NM_001376.5(DYNC1H1):c.8653G>C (p.Asp2885His)
|
rs2048454256
|
|
NM_001376.5(DYNC1H1):c.8664G>A (p.Glu2888=)
|
rs2152588686
|
|
NM_001376.5(DYNC1H1):c.8667A>G (p.Leu2889=)
|
|
|
NM_001376.5(DYNC1H1):c.8676T>C (p.Tyr2892=)
|
|
|
NM_001376.5(DYNC1H1):c.8694G>C (p.Lys2898Asn)
|
|
|
NM_001376.5(DYNC1H1):c.8702A>G (p.Tyr2901Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8704GAA[2] (p.Glu2904del)
|
|
|
NM_001376.5(DYNC1H1):c.8734T>C (p.Phe2912Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8742A>G (p.Glu2914=)
|
|
|
NM_001376.5(DYNC1H1):c.8746C>T (p.Leu2916=)
|
rs2152588716
|
|
NM_001376.5(DYNC1H1):c.8748A>G (p.Leu2916=)
|
|
|
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)
|
rs2047850664
|
|
NM_001376.5(DYNC1H1):c.8751C>G (p.Asp2917Glu)
|
rs2152588718
|
|
NM_001376.5(DYNC1H1):c.8755G>A (p.Val2919Met)
|
|
|
NM_001376.5(DYNC1H1):c.8760G>A (p.Leu2920=)
|
|
|
NM_001376.5(DYNC1H1):c.8762G>A (p.Arg2921Lys)
|
|
|
NM_001376.5(DYNC1H1):c.8771+12T>G
|
rs2152588734
|
|
NM_001376.5(DYNC1H1):c.8771+15T>C
|
rs2152588738
|
|
NM_001376.5(DYNC1H1):c.8771+16G>T
|
|
|
NM_001376.5(DYNC1H1):c.8771+20C>A
|
|
|
NM_001376.5(DYNC1H1):c.8771+20C>T
|
|
|
NM_001376.5(DYNC1H1):c.8771+5G>C
|
|
|
NM_001376.5(DYNC1H1):c.8771+6C>A
|
rs756924858
|
|
NM_001376.5(DYNC1H1):c.8771G>A (p.Arg2924Lys)
|
rs2152588723
|
|
NM_001376.5(DYNC1H1):c.8772-10A>G
|
rs1595623155
|
|
NM_001376.5(DYNC1H1):c.8772-12G>C
|
|
|
NM_001376.5(DYNC1H1):c.8772-13C>T
|
rs2048460576
|
|
NM_001376.5(DYNC1H1):c.8772-16T>A
|
|
|
NM_001376.5(DYNC1H1):c.8779C>T (p.Arg2927Cys)
|
rs2152588919
|
|
NM_001376.5(DYNC1H1):c.8782_8783delinsTT (p.Gln2928Leu)
|
rs2152588934
|
|
NM_001376.5(DYNC1H1):c.8786C>G (p.Pro2929Arg)
|
|
|
NM_001376.5(DYNC1H1):c.87G>A (p.Val29=)
|
rs1465079070
|
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370
|
|
NM_001376.5(DYNC1H1):c.8832T>C (p.Thr2944=)
|
|
|
NM_001376.5(DYNC1H1):c.8835C>G (p.Thr2945=)
|
|
|
NM_001376.5(DYNC1H1):c.8835C>T (p.Thr2945=)
|
rs1427975569
|
|
NM_001376.5(DYNC1H1):c.8842C>T (p.Arg2948Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8848G>A (p.Val2950Ile)
|
|
|
NM_001376.5(DYNC1H1):c.8851G>A (p.Ala2951Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8856G>A (p.Trp2952Ter)
|
|
|
NM_001376.5(DYNC1H1):c.8859G>A (p.Met2953Ile)
|
|
|
NM_001376.5(DYNC1H1):c.8864G>A (p.Gly2955Asp)
|
|
|
NM_001376.5(DYNC1H1):c.886G>C (p.Glu296Gln)
|
|
|
NM_001376.5(DYNC1H1):c.8870G>A (p.Ser2957Asn)
|
|
|
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala)
|
rs1555410902
|
|
NM_001376.5(DYNC1H1):c.8886+16G>A
|
|
|
NM_001376.5(DYNC1H1):c.8886+19C>G
|
|
|
NM_001376.5(DYNC1H1):c.8887-14C>T
|
|
|
NM_001376.5(DYNC1H1):c.8887-17T>C
|
rs2152589028
|
|
NM_001376.5(DYNC1H1):c.8889C>G (p.Val2963=)
|
|
|
NM_001376.5(DYNC1H1):c.8891del (p.His2964fs)
|
|
|
NM_001376.5(DYNC1H1):c.8892T>C (p.His2964=)
|
rs2152589034
|
|
NM_001376.5(DYNC1H1):c.8902A>G (p.Thr2968Ala)
|
rs2152589038
|
|
NM_001376.5(DYNC1H1):c.8925T>C (p.Asp2975=)
|
rs1333836442
|
|
NM_001376.5(DYNC1H1):c.892C>T (p.Leu298Phe)
|
|
|
NM_001376.5(DYNC1H1):c.8964A>G (p.Glu2988=)
|
|
|
NM_001376.5(DYNC1H1):c.8965A>G (p.Lys2989Glu)
|
|
|
NM_001376.5(DYNC1H1):c.8967G>A (p.Lys2989=)
|
|
|
NM_001376.5(DYNC1H1):c.8994T>C (p.Asn2998=)
|
|
|
NM_001376.5(DYNC1H1):c.8995G>C (p.Val2999Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9039C>A (p.Ala3013=)
|
|
|
NM_001376.5(DYNC1H1):c.9042T>C (p.Asn3014=)
|
rs2152589085
|
|
NM_001376.5(DYNC1H1):c.9048+13C>A
|
|
|
NM_001376.5(DYNC1H1):c.9048+13C>T
|
|
|
NM_001376.5(DYNC1H1):c.9048+14G>T
|
rs200027905
|
|
NM_001376.5(DYNC1H1):c.9048+18T>G
|
|
|
NM_001376.5(DYNC1H1):c.9048+4dup
|
|
|
NM_001376.5(DYNC1H1):c.9049-12G>A
|
|
|
NM_001376.5(DYNC1H1):c.9049-13T>C
|
rs368468406
|
|
NM_001376.5(DYNC1H1):c.9049-16C>T
|
|
|
NM_001376.5(DYNC1H1):c.9049-18C>T
|
|
|
NM_001376.5(DYNC1H1):c.9053C>G (p.Pro3018Arg)
|
rs2152589129
|
|
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)
|
rs532073330
|
|
NM_001376.5(DYNC1H1):c.9073G>A (p.Glu3025Lys)
|
|
|
NM_001376.5(DYNC1H1):c.9081C>T (p.Ala3027=)
|
|
|
NM_001376.5(DYNC1H1):c.9087_9088delinsTT (p.Leu3029_Met3030delinsPheLeu)
|
|
|
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=)
|
rs1555410937
|
|
NM_001376.5(DYNC1H1):c.9109G>A (p.Ala3037Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
|
rs769817685
|
|
NM_001376.5(DYNC1H1):c.910T>C (p.Leu304=)
|
|
|
NM_001376.5(DYNC1H1):c.9113_9116del (p.Gln3038fs)
|
rs2152589159
|
|
NM_001376.5(DYNC1H1):c.9117G>A (p.Lys3039=)
|
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr)
|
rs1555410940
|
|
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)
|
rs1555410941
|
|
NM_001376.5(DYNC1H1):c.9153C>T (p.Tyr3051=)
|
|
|
NM_001376.5(DYNC1H1):c.9165T>C (p.Thr3055=)
|
|
|
NM_001376.5(DYNC1H1):c.9177C>T (p.Ile3059=)
|
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=)
|
rs1555410949
|
|
NM_001376.5(DYNC1H1):c.9190G>A (p.Val3064Ile)
|
rs765818743
|
|
NM_001376.5(DYNC1H1):c.91C>T (p.Gln31Ter)
|
|
|
NM_001376.5(DYNC1H1):c.9213C>T (p.Ser3071=)
|
rs2152589199
|
|
NM_001376.5(DYNC1H1):c.9215C>T (p.Ser3072Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9219G>A (p.Glu3073=)
|
rs2048466890
|
|
NM_001376.5(DYNC1H1):c.9232C>T (p.Arg3078Trp)
|
|
|
NM_001376.5(DYNC1H1):c.9242C>T (p.Thr3081Ile)
|
rs1555410958
|
|
NM_001376.5(DYNC1H1):c.9243A>G (p.Thr3081=)
|
|
|
NM_001376.5(DYNC1H1):c.9263+5G>T
|
|
|
NM_001376.5(DYNC1H1):c.9263+7G>A
|
|
|
NM_001376.5(DYNC1H1):c.9263+7G>C
|
rs2048467310
|
|
NM_001376.5(DYNC1H1):c.9264-13G>A
|
|
|
NM_001376.5(DYNC1H1):c.9264-15G>A
|
|
|
NM_001376.5(DYNC1H1):c.9264-15G>C
|
rs2048468776
|
|
NM_001376.5(DYNC1H1):c.9264-18C>T
|
|
|
NM_001376.5(DYNC1H1):c.9264G>A (p.Arg3088=)
|
rs2048468944
|
|
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His)
|
rs797045177
|
|
NM_001376.5(DYNC1H1):c.9276T>C (p.Asn3092=)
|
|
|
NM_001376.5(DYNC1H1):c.927C>T (p.Arg309=)
|
rs2141270256
|
|
NM_001376.5(DYNC1H1):c.9282T>C (p.Phe3094=)
|
rs2152589292
|
|
NM_001376.5(DYNC1H1):c.9295A>G (p.Thr3099Ala)
|
rs2152589296
|
|
NM_001376.5(DYNC1H1):c.9297C>T (p.Thr3099=)
|
rs2048469194
|
|
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=)
|
rs1060504513
|
|
NM_001376.5(DYNC1H1):c.932A>T (p.His311Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)
|
rs1595623556
|
|
NM_001376.5(DYNC1H1):c.9332G>C (p.Ser3111Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9335A>G (p.Lys3112Arg)
|
rs374952401
|
|
NM_001376.5(DYNC1H1):c.9337A>G (p.Met3113Val)
|
rs1046324894
|
|
NM_001376.5(DYNC1H1):c.9342T>A (p.Asp3114Glu)
|
rs2152589319
|
|
NM_001376.5(DYNC1H1):c.9363C>G (p.Ile3121Met)
|
|
|
NM_001376.5(DYNC1H1):c.9367C>T (p.Pro3123Ser)
|
rs2048469916
|
|
NM_001376.5(DYNC1H1):c.9369T>A (p.Pro3123=)
|
|
|
NM_001376.5(DYNC1H1):c.936C>G (p.Ala312=)
|
|
|
NM_001376.5(DYNC1H1):c.9374A>G (p.Tyr3125Cys)
|
rs2152589339
|
|
NM_001376.5(DYNC1H1):c.9376A>G (p.Met3126Val)
|
rs2152589343
|
|
NM_001376.5(DYNC1H1):c.9390T>C (p.Tyr3130=)
|
rs1232985980
|
|
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu)
|
rs905098104
|
|
NM_001376.5(DYNC1H1):c.9402G>T (p.Pro3134=)
|
rs145095254
|
|
NM_001376.5(DYNC1H1):c.9411A>G (p.Pro3137=)
|
|
|
NM_001376.5(DYNC1H1):c.9420G>C (p.Arg3140=)
|
|
|
NM_001376.5(DYNC1H1):c.9424G>A (p.Ala3142Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9424G>T (p.Ala3142Ser)
|
|
|
NM_001376.5(DYNC1H1):c.9434A>G (p.Asn3145Ser)
|
rs2048470595
|
|
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
|
rs1053560376
|
|
NM_001376.5(DYNC1H1):c.9456G>C (p.Gln3152His)
|
rs2048470929
|
|
NM_001376.5(DYNC1H1):c.9459T>G (p.Thr3153=)
|
|
|
NM_001376.5(DYNC1H1):c.9463C>T (p.His3155Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.9466C>T (p.Gln3156Ter)
|
|
|
NM_001376.5(DYNC1H1):c.9468+14T>C
|
|
|
NM_001376.5(DYNC1H1):c.9468+18A>C
|
|
|
NM_001376.5(DYNC1H1):c.9468+20C>A
|
|
|
NM_001376.5(DYNC1H1):c.9468+9A>G
|
rs750452823
|
|
NM_001376.5(DYNC1H1):c.9469-20A>G
|
|
|
NM_001376.5(DYNC1H1):c.9469-6T>C
|
|
|
NM_001376.5(DYNC1H1):c.9469-8del
|
|
|
NM_001376.5(DYNC1H1):c.9471G>A (p.Ala3157=)
|
|
|
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)
|
rs151255069
|
|
NM_001376.5(DYNC1H1):c.9480G>C (p.Arg3160=)
|
rs2152590103
|
|
NM_001376.5(DYNC1H1):c.9482T>C (p.Leu3161Pro)
|
|
|
NM_001376.5(DYNC1H1):c.9496G>A (p.Gly3166Ser)
|
rs1393341368
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
rs2048487270
|
|
NM_001376.5(DYNC1H1):c.9504G>A (p.Thr3168=)
|
|
|
NM_001376.5(DYNC1H1):c.9516C>T (p.Thr3172=)
|
rs2152590125
|
|
NM_001376.5(DYNC1H1):c.951C>T (p.Asp317=)
|
rs1306216043
|
|
NM_001376.5(DYNC1H1):c.9534C>T (p.Asp3178=)
|
|
|
NM_001376.5(DYNC1H1):c.9543T>C (p.Asn3181=)
|
|
|
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr)
|
rs1311056505
|
|
NM_001376.5(DYNC1H1):c.9554A>G (p.Asn3185Ser)
|
|
|
NM_001376.5(DYNC1H1):c.9554A>T (p.Asn3185Ile)
|
|
|
NM_001376.5(DYNC1H1):c.9561C>G (p.Phe3187Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9571C>T (p.Arg3191Trp)
|
|
|
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=)
|
rs1555411131
|
|
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys)
|
rs1567017804
|
|
NM_001376.5(DYNC1H1):c.9584A>T (p.Glu3195Val)
|
rs2152590164
|
|
NM_001376.5(DYNC1H1):c.9589C>G (p.Gln3197Glu)
|
|
|
NM_001376.5(DYNC1H1):c.9592C>G (p.Gln3198Glu)
|
|
|
NM_001376.5(DYNC1H1):c.959C>G (p.Thr320Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9606C>T (p.Asn3202=)
|
|
|
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)
|
rs1567017825
|
|
NM_001376.5(DYNC1H1):c.9608T>A (p.Val3203Glu)
|
rs2152590172
|
|
NM_001376.5(DYNC1H1):c.961+10A>G
|
|
|
NM_001376.5(DYNC1H1):c.961+16A>G
|
|
|
NM_001376.5(DYNC1H1):c.961+5C>G
|
|
|
NM_001376.5(DYNC1H1):c.9612G>A (p.Gly3204=)
|
|
|
NM_001376.5(DYNC1H1):c.9615C>G (p.Leu3205=)
|
rs1209904325
|
|
NM_001376.5(DYNC1H1):c.9615C>T (p.Leu3205=)
|
rs1209904325
|
|
NM_001376.5(DYNC1H1):c.9618G>A (p.Arg3206=)
|
rs2152590176
|
|
NM_001376.5(DYNC1H1):c.962-10del
|
rs2141272242
|
|
NM_001376.5(DYNC1H1):c.962-12C>G
|
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
NM_001376.5(DYNC1H1):c.962-16T>G
|
rs2141272236
|
|
NM_001376.5(DYNC1H1):c.962-18C>G
|
|
|
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=)
|
rs2295445
|
|
NM_001376.5(DYNC1H1):c.9636C>T (p.Val3212=)
|
rs2295445
|
|
NM_001376.5(DYNC1H1):c.9639C>T (p.Asp3213=)
|
|
|
NM_001376.5(DYNC1H1):c.9642+17A>C
|
|
|
NM_001376.5(DYNC1H1):c.9642+20T>C
|
|
|
NM_001376.5(DYNC1H1):c.9642+4C>A
|
rs773101138
|
|
NM_001376.5(DYNC1H1):c.9642+4C>T
|
rs773101138
|
|
NM_001376.5(DYNC1H1):c.9642+5G>T
|
|
|
NM_001376.5(DYNC1H1):c.9643-11T>C
|
rs2152590232
|
|
NM_001376.5(DYNC1H1):c.9643-14G>T
|
|
|
NM_001376.5(DYNC1H1):c.9643-20G>T
|
rs2152590226
|
|
NM_001376.5(DYNC1H1):c.9643-5T>C
|
rs1057522736
|
|
NM_001376.5(DYNC1H1):c.9643-6C>T
|
|
|
NM_001376.5(DYNC1H1):c.9643-7T>C
|
rs780903072
|
|
NM_001376.5(DYNC1H1):c.964C>T (p.Leu322=)
|
rs2047886730
|
|
NM_001376.5(DYNC1H1):c.9654G>A (p.Leu3218=)
|
rs1595624407
|
|
NM_001376.5(DYNC1H1):c.9655C>T (p.Arg3219Cys)
|
rs1555411141
|
|
NM_001376.5(DYNC1H1):c.9656G>A (p.Arg3219His)
|
rs1460582982
|
|
NM_001376.5(DYNC1H1):c.9659G>A (p.Arg3220His)
|
rs868813394
|
|
NM_001376.5(DYNC1H1):c.966A>G (p.Leu322=)
|
|
|
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu)
|
rs1567017900
|
|
NM_001376.5(DYNC1H1):c.9703G>A (p.Ala3235Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9711T>C (p.Asn3237=)
|
|
|
NM_001376.5(DYNC1H1):c.9720G>A (p.Leu3240=)
|
|
|
NM_001376.5(DYNC1H1):c.9721A>G (p.Lys3241Glu)
|
|
|
NM_001376.5(DYNC1H1):c.9735A>G (p.Lys3245=)
|
|
|
NM_001376.5(DYNC1H1):c.9745G>A (p.Glu3249Lys)
|
|
|
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del)
|
rs797044918
|
|
NM_001376.5(DYNC1H1):c.9762+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.9762+4T>C
|
|
|
NM_001376.5(DYNC1H1):c.9762+6del
|
rs1341822110
|
|
NM_001376.5(DYNC1H1):c.9763-11C>T
|
|
|
NM_001376.5(DYNC1H1):c.9763-18G>C
|
|
|
NM_001376.5(DYNC1H1):c.9763-20A>G
|
|
|
NM_001376.5(DYNC1H1):c.9763-6T>C
|
rs2152590376
|
|
NM_001376.5(DYNC1H1):c.9780C>T (p.Ile3260=)
|
rs1486174617
|
|
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln)
|
rs1567018077
|
|
NM_001376.5(DYNC1H1):c.978G>A (p.Leu326=)
|
rs890130750
|
|
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)
|
rs903873576
|
|
NM_001376.5(DYNC1H1):c.9801G>A (p.Gln3267=)
|
|
|
NM_001376.5(DYNC1H1):c.9816A>G (p.Ala3272=)
|
|
|
NM_001376.5(DYNC1H1):c.9827T>A (p.Met3276Lys)
|
rs1199619119
|
|
NM_001376.5(DYNC1H1):c.9827T>G (p.Met3276Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9850A>C (p.Lys3284Gln)
|
|
|
NM_001376.5(DYNC1H1):c.9851A>G (p.Lys3284Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9853G>A (p.Val3285Met)
|
rs2048495282
|
|
NM_001376.5(DYNC1H1):c.9855G>A (p.Val3285=)
|
|
|
NM_001376.5(DYNC1H1):c.9864C>T (p.Ala3288=)
|
|
|
NM_001376.5(DYNC1H1):c.9865G>A (p.Val3289Ile)
|
|
|
NM_001376.5(DYNC1H1):c.9865G>C (p.Val3289Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9867C>T (p.Val3289=)
|
|
|
NM_001376.5(DYNC1H1):c.9869T>C (p.Ile3290Thr)
|
rs750222078
|
|
NM_001376.5(DYNC1H1):c.9874G>T (p.Ala3292Ser)
|
rs2048495474
|
|
NM_001376.5(DYNC1H1):c.9879G>A (p.Gln3293=)
|
rs184853838
|
|
NM_001376.5(DYNC1H1):c.9883+10G>A
|
|
|
NM_001376.5(DYNC1H1):c.9883+12C>T
|
rs1595624651
|
|
NM_001376.5(DYNC1H1):c.9883+14G>C
|
|
|
NM_001376.5(DYNC1H1):c.9883+14_9883+15del
|
|
|
NM_001376.5(DYNC1H1):c.9883+3A>G
|
rs2048495549
|
|
NM_001376.5(DYNC1H1):c.9884-17C>T
|
|
|
NM_001376.5(DYNC1H1):c.9884-18A>T
|
rs2152591243
|
|
NM_001376.5(DYNC1H1):c.9884-19C>T
|
|
|
NM_001376.5(DYNC1H1):c.9884-20C>G
|
|
|
NM_001376.5(DYNC1H1):c.9884-7del
|
|
|
NM_001376.5(DYNC1H1):c.9884-9G>T
|
|
|
NM_001376.5(DYNC1H1):c.9893C>T (p.Ser3298Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9896T>C (p.Ile3299Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9903G>A (p.Lys3301=)
|
rs374398934
|
|
NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu)
|
rs2048518278
|
|
NM_001376.5(DYNC1H1):c.9924G>A (p.Arg3308=)
|
|
|
NM_001376.5(DYNC1H1):c.9939T>C (p.Pro3313=)
|
|
|
NM_001376.5(DYNC1H1):c.9960G>T (p.Ala3320=)
|
rs746026558
|
|
NM_001376.5(DYNC1H1):c.996C>T (p.Tyr332=)
|
rs2047887024
|
|
NM_001376.5(DYNC1H1):c.9996C>G (p.Thr3332=)
|
|
|
NM_001376.5(DYNC1H1):c.9999A>C (p.Thr3333=)
|
|
|
NM_001376.5(DYNC1H1):c.9999A>G (p.Thr3333=)
|
|
|
NM_001376.5(DYNC1H1):c.999T>A (p.Asn333Lys)
|
|
|
NM_001376.5(DYNC1H1):c.99C>A (p.His33Gln)
|
|
|
NM_001376.5(DYNC1H1):c.99C>G (p.His33Gln)
|
|
|
NM_001376.5(DYNC1H1):c.99C>T (p.His33=)
|
rs1347832786
|
|
NM_001376.5(DYNC1H1):c.9G>A (p.Glu3=)
|
|
|
NM_001540.5(HSPB1):c.109C>T (p.Arg37Trp)
|
|
|
NM_001540.5(HSPB1):c.112C>A (p.Leu38Met)
|
|
|
NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)
|
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001540.5(HSPB1):c.118G>T (p.Glu40Ter)
|
|
|
NM_001540.5(HSPB1):c.119A>T (p.Glu40Val)
|
|
|
NM_001540.5(HSPB1):c.11G>A (p.Arg4His)
|
|
|
NM_001540.5(HSPB1):c.120G>A (p.Glu40=)
|
|
|
NM_001540.5(HSPB1):c.123G>A (p.Glu41=)
|
|
|
NM_001540.5(HSPB1):c.128C>G (p.Ser43Trp)
|
rs950234286
|
|
NM_001540.5(HSPB1):c.129G>A (p.Ser43=)
|
rs764071304
|
|
NM_001540.5(HSPB1):c.134G>A (p.Trp45Ter)
|
rs753747742
|
|
NM_001540.5(HSPB1):c.136T>G (p.Leu46Val)
|
|
|
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser)
|
rs778311776
|
|
NM_001540.5(HSPB1):c.144C>A (p.Gly48=)
|
|
|
NM_001540.5(HSPB1):c.144C>T (p.Gly48=)
|
|
|
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
|
rs1404212306
|
|
NM_001540.5(HSPB1):c.152G>A (p.Trp51Ter)
|
|
|
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
|
rs769118115
|
|
NM_001540.5(HSPB1):c.155C>G (p.Pro52Arg)
|
|
|
NM_001540.5(HSPB1):c.159C>T (p.Gly53=)
|
rs748696628
|
|
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
|
rs1803021885
|
|
NM_001540.5(HSPB1):c.16G>T (p.Val6Phe)
|
|
|
NM_001540.5(HSPB1):c.171C>T (p.Pro57=)
|
rs887152183
|
|
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
|
rs768456339
|
|
NM_001540.5(HSPB1):c.175C>T (p.Pro59Ser)
|
rs763084460
|
|
NM_001540.5(HSPB1):c.177C>T (p.Pro59=)
|
|
|
NM_001540.5(HSPB1):c.179C>G (p.Pro60Arg)
|
rs112075084
|
|
NM_001540.5(HSPB1):c.180C>T (p.Pro60=)
|
|
|
NM_001540.5(HSPB1):c.180del (p.Ala61fs)
|
rs1064796370
|
|
NM_001540.5(HSPB1):c.180dup (p.Ala61fs)
|
rs1064796370
|
|
NM_001540.5(HSPB1):c.181GCC[3] (p.Ala62dup)
|
rs748560388
|
|
NM_001540.5(HSPB1):c.183C>T (p.Ala61=)
|
|
|
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
|
rs1064796602
|
|
NM_001540.5(HSPB1):c.189C>T (p.Ile63=)
|
|
|
NM_001540.5(HSPB1):c.18C>G (p.Val6=)
|
|
|
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
|
rs1803023708
|
|
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
|
rs1803023868
|
|
NM_001540.5(HSPB1):c.196C>T (p.Pro66Ser)
|
|
|
NM_001540.5(HSPB1):c.199G>A (p.Ala67Thr)
|
|
|
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)
|
rs1563651698
|
|
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
|
rs200190722
|
|
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)
|
rs757158514
|
|
NM_001540.5(HSPB1):c.204G>C (p.Val68=)
|
rs1554614462
|
|
NM_001540.5(HSPB1):c.208G>A (p.Ala70Thr)
|
|
|
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)
|
rs1405359814
|
|
NM_001540.5(HSPB1):c.223C>T (p.Arg75Cys)
|
|
|
NM_001540.5(HSPB1):c.225C>T (p.Arg75=)
|
|
|
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
|
rs1803026258
|
|
NM_001540.5(HSPB1):c.245_246insT (p.Ser83fs)
|
|
|
NM_001540.5(HSPB1):c.247A>T (p.Ser83Cys)
|
rs1178583914
|
|
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn)
|
rs1563651975
|
|
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
|
rs770272088
|
|
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)
|
rs770272088
|
|
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
|
rs1803027735
|
|
NM_001540.5(HSPB1):c.253G>A (p.Val85Ile)
|
rs773758650
|
|
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
|
rs1803028479
|
|
NM_001540.5(HSPB1):c.275C>T (p.Ala92Val)
|
rs771014888
|
|
NM_001540.5(HSPB1):c.27G>T (p.Ser9=)
|
rs1232413726
|
|
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
|
rs776411885
|
|
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
|
rs765142574
|
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574
|
|
NM_001540.5(HSPB1):c.314C>A (p.Ala105Asp)
|
rs2117158764
|
|
NM_001540.5(HSPB1):c.318G>A (p.Pro106=)
|
|
|
NM_001540.5(HSPB1):c.318G>C (p.Pro106=)
|
rs750349055
|
|
NM_001540.5(HSPB1):c.327G>A (p.Leu109=)
|
rs112731839
|
|
NM_001540.5(HSPB1):c.329C>T (p.Thr110Met)
|
|
|
NM_001540.5(HSPB1):c.331G>A (p.Val111Ile)
|
rs1803031093
|
|
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln)
|
rs1803031436
|
|
NM_001540.5(HSPB1):c.347G>A (p.Gly116Asp)
|
|
|
NM_001540.5(HSPB1):c.355_357del (p.Glu119del)
|
rs1484884861
|
|
NM_001540.5(HSPB1):c.362C>G (p.Thr121Ser)
|
|
|
NM_001540.5(HSPB1):c.364+11C>G
|
|
|
NM_001540.5(HSPB1):c.364+11dup
|
rs773836576
|
|
NM_001540.5(HSPB1):c.364+13G>A
|
|
|
NM_001540.5(HSPB1):c.364+13G>C
|
rs1468075489
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001540.5(HSPB1):c.364+7C>T
|
|
|
NM_001540.5(HSPB1):c.364+9_364+26del
|
|
|
NM_001540.5(HSPB1):c.365-10C>A
|
|
|
NM_001540.5(HSPB1):c.365-10C>T
|
rs760390744
|
|
NM_001540.5(HSPB1):c.365-11_365-9delinsATA
|
rs2117160979
|
|
NM_001540.5(HSPB1):c.365-3A>G
|
rs2117161041
|
|
NM_001540.5(HSPB1):c.365-5C>A
|
|
|
NM_001540.5(HSPB1):c.365-5C>T
|
rs368936457
|
|
NM_001540.5(HSPB1):c.365-5del
|
rs759570569
|
|
NM_001540.5(HSPB1):c.365-5dup
|
rs759570569
|
|
NM_001540.5(HSPB1):c.365-6C>A
|
rs200902768
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001540.5(HSPB1):c.365G>A (p.Gly122Asp)
|
|
|
NM_001540.5(HSPB1):c.372C>T (p.His124=)
|
rs145243219
|
|
NM_001540.5(HSPB1):c.373GAG[1] (p.Glu126del)
|
rs1554614633
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)
|
rs1475184454
|
|
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln)
|
rs587781250
|
|
NM_001540.5(HSPB1):c.385G>A (p.Asp129Asn)
|
rs2117161160
|
|
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
|
rs1583966042
|
|
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.40C>T (p.Pro14Ser)
|
|
|
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met)
|
rs1064795077
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
|
rs1554614650
|
|
NM_001540.5(HSPB1):c.428+5G>C
|
rs1169656002
|
|
NM_001540.5(HSPB1):c.428+9T>C
|
rs1424157184
|
|
NM_001540.5(HSPB1):c.429-16CT[2]
|
|
|
NM_001540.5(HSPB1):c.429-4C>T
|
|
|
NM_001540.5(HSPB1):c.429-7C>G
|
|
|
NM_001540.5(HSPB1):c.432G>A (p.Leu144=)
|
rs1563652837
|
|
NM_001540.5(HSPB1):c.435C>T (p.Pro145=)
|
|
|
NM_001540.5(HSPB1):c.437C>G (p.Pro146Arg)
|
rs780691682
|
|
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
|
rs747325717
|
|
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
|
rs28937568
|
|
NM_001540.5(HSPB1):c.457G>A (p.Val153Ile)
|
|
|
NM_001540.5(HSPB1):c.459T>C (p.Val153=)
|
rs1803068085
|
|
NM_001540.5(HSPB1):c.460T>G (p.Ser154Ala)
|
rs1158758405
|
|
NM_001540.5(HSPB1):c.460TCC[2] (p.Ser156del)
|
rs2117161860
|
|
NM_001540.5(HSPB1):c.472del (p.Ser158fs)
|
|
|
NM_001540.5(HSPB1):c.473C>G (p.Ser158Cys)
|
rs1327017762
|
|
NM_001540.5(HSPB1):c.474C>T (p.Ser158=)
|
|
|
NM_001540.5(HSPB1):c.477T>G (p.Pro159=)
|
|
|
NM_001540.5(HSPB1):c.478G>C (p.Glu160Gln)
|
|
|
NM_001540.5(HSPB1):c.498G>C (p.Glu166Asp)
|
rs148357753
|
|
NM_001540.5(HSPB1):c.502C>T (p.Pro168Ser)
|
|
|
NM_001540.5(HSPB1):c.503C>T (p.Pro168Leu)
|
|
|
NM_001540.5(HSPB1):c.504C>T (p.Pro168=)
|
rs866382696
|
|
NM_001540.5(HSPB1):c.507G>A (p.Met169Ile)
|
|
|
NM_001540.5(HSPB1):c.510del (p.Lys171fs)
|
rs1803069940
|
|
NM_001540.5(HSPB1):c.512del (p.Lys171fs)
|
rs1554614680
|
|
NM_001540.5(HSPB1):c.518C>T (p.Ala173Val)
|
|
|
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter)
|
rs1060503021
|
|
NM_001540.5(HSPB1):c.52C>A (p.Pro18Thr)
|
rs1803014417
|
|
NM_001540.5(HSPB1):c.52C>T (p.Pro18Ser)
|
rs1803014417
|
|
NM_001540.5(HSPB1):c.530A>T (p.Asn177Ile)
|
rs931154885
|
|
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)
|
rs150110356
|
|
NM_001540.5(HSPB1):c.536T>C (p.Ile179Thr)
|
|
|
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
|
rs1803071312
|
|
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)
|
rs1422978230
|
|
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
|
rs104894020
|
|
NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala)
|
rs104894020
|
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020
|
|
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
|
rs1803072212
|
|
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser)
|
rs777225392
|
|
NM_001540.5(HSPB1):c.555C>T (p.Phe185=)
|
rs533051169
|
|
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu)
|
rs774585320
|
|
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
|
rs1803072933
|
|
NM_001540.5(HSPB1):c.571_583del (p.Leu191fs)
|
|
|
NM_001540.5(HSPB1):c.576_578del (p.Gly193del)
|
rs777055559
|
|
NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)
|
|
|
NM_001540.5(HSPB1):c.599A>T (p.Asp200Val)
|
|
|
NM_001540.5(HSPB1):c.600T>G (p.Asp200Glu)
|
|
|
NM_001540.5(HSPB1):c.602A>G (p.Glu201Gly)
|
|
|
NM_001540.5(HSPB1):c.607GCC[1] (p.Ala204del)
|
rs1276065076
|
|
NM_001540.5(HSPB1):c.609C>T (p.Ala203=)
|
|
|
NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
|
rs1563653037
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
|
rs367857772
|
|
NM_001540.5(HSPB1):c.612C>T (p.Ala204=)
|
|
|
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
|
rs1310856057
|
|
NM_001540.5(HSPB1):c.66G>C (p.Trp22Cys)
|
rs2117157792
|
|
NM_001540.5(HSPB1):c.74_95dup (p.Ala32_Phe33insTer)
|
rs2117157815
|
|
NM_001540.5(HSPB1):c.75T>C (p.His25=)
|
|
|
NM_001540.5(HSPB1):c.75T>G (p.His25Gln)
|
|
|
NM_001540.5(HSPB1):c.7G>A (p.Glu3Lys)
|
rs748003351
|
|
NM_001540.5(HSPB1):c.80G>A (p.Arg27His)
|
|
|
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
|
rs367662394
|
|
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
|
rs771709777
|
|
NM_001540.5(HSPB1):c.94G>T (p.Ala32Ser)
|
|
|
NM_001540.5(HSPB1):c.95C>A (p.Ala32Asp)
|
|
|
NM_001605.3(AARS1):c.1006C>T (p.His336Tyr)
|
rs756594937
|
|
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)
|
rs2152160733
|
|
NM_001605.3(AARS1):c.100T>C (p.Leu34=)
|
|
|
NM_001605.3(AARS1):c.1012A>G (p.Lys338Glu)
|
rs1960315664
|
|
NM_001605.3(AARS1):c.1026C>G (p.Ser342Arg)
|
|
|
NM_001605.3(AARS1):c.1027A>G (p.Arg343Gly)
|
rs1960315228
|
|
NM_001605.3(AARS1):c.1029G>T (p.Arg343Ser)
|
|
|
NM_001605.3(AARS1):c.1032del (p.Phe345fs)
|
|
|
NM_001605.3(AARS1):c.1033T>A (p.Phe345Ile)
|
|
|
NM_001605.3(AARS1):c.1035C>T (p.Phe345=)
|
|
|
NM_001605.3(AARS1):c.1036T>C (p.Phe346Leu)
|
rs765790521
|
|
NM_001605.3(AARS1):c.1041T>C (p.Ala347=)
|
|
|
NM_001605.3(AARS1):c.1042A>G (p.Thr348Ala)
|
rs1483525127
|
|
NM_001605.3(AARS1):c.1044G>A (p.Thr348=)
|
rs181264712
|
|
NM_001605.3(AARS1):c.1049T>C (p.Val350Ala)
|
|
|
NM_001605.3(AARS1):c.104A>T (p.Asp35Val)
|
|
|
NM_001605.3(AARS1):c.1050G>A (p.Val350=)
|
|
|
NM_001605.3(AARS1):c.1055T>G (p.Val352Gly)
|
rs1597441040
|
|
NM_001605.3(AARS1):c.105T>C (p.Asp35=)
|
|
|
NM_001605.3(AARS1):c.1060G>T (p.Val354Phe)
|
rs762395098
|
|
NM_001605.3(AARS1):c.1065G>T (p.Gln355His)
|
rs1960314004
|
|
NM_001605.3(AARS1):c.1068C>G (p.Ser356=)
|
|
|
NM_001605.3(AARS1):c.1071+15C>A
|
rs1310673800
|
|
NM_001605.3(AARS1):c.1071+15C>T
|
|
|
NM_001605.3(AARS1):c.1071+1G>A
|
rs2152160643
|
|
NM_001605.3(AARS1):c.1071+5G>T
|
|
|
NM_001605.3(AARS1):c.1072-10C>A
|
|
|
NM_001605.3(AARS1):c.1072-10C>T
|
|
|
NM_001605.3(AARS1):c.1072-12C>T
|
|
|
NM_001605.3(AARS1):c.1072-15C>A
|
|
|
NM_001605.3(AARS1):c.1072-16G>A
|
|
|
NM_001605.3(AARS1):c.1072-18T>C
|
|
|
NM_001605.3(AARS1):c.1072-3C>G
|
|
|
NM_001605.3(AARS1):c.1074A>T (p.Gly358=)
|
rs1555541137
|
|
NM_001605.3(AARS1):c.1076A>G (p.Asp359Gly)
|
rs1960298879
|
|
NM_001605.3(AARS1):c.1078G>C (p.Ala360Pro)
|
rs761669458
|
|
NM_001605.3(AARS1):c.1082T>G (p.Phe361Cys)
|
rs2152160274
|
|
NM_001605.3(AARS1):c.1083T>C (p.Phe361=)
|
rs2152160273
|
|
NM_001605.3(AARS1):c.108C>T (p.Asp36=)
|
|
|
NM_001605.3(AARS1):c.109C>T (p.Pro37Ser)
|
rs1005079274
|
|
NM_001605.3(AARS1):c.10A>G (p.Thr4Ala)
|
|
|
NM_001605.3(AARS1):c.1106A>T (p.Asp369Val)
|
rs2152160238
|
|
NM_001605.3(AARS1):c.110C>T (p.Pro37Leu)
|
|
|
NM_001605.3(AARS1):c.1114A>G (p.Lys372Glu)
|
|
|
NM_001605.3(AARS1):c.111dup (p.Thr38fs)
|
rs1597448762
|
|
NM_001605.3(AARS1):c.1122C>T (p.Ile374=)
|
rs752057589
|
|
NM_001605.3(AARS1):c.1123A>G (p.Ile375Val)
|
|
|
NM_001605.3(AARS1):c.1125T>C (p.Ile375=)
|
|
|
NM_001605.3(AARS1):c.1129G>A (p.Glu377Lys)
|
rs2152160216
|
|
NM_001605.3(AARS1):c.113C>T (p.Thr38Ile)
|
rs761574997
|
|
NM_001605.3(AARS1):c.1140_1141delinsAT (p.Gln381Ter)
|
|
|
NM_001605.3(AARS1):c.1143G>A (p.Gln381=)
|
rs778064460
|
|
NM_001605.3(AARS1):c.1150A>C (p.Lys384Gln)
|
rs1597440683
|
|
NM_001605.3(AARS1):c.1155T>G (p.Thr385=)
|
|
|
NM_001605.3(AARS1):c.1167G>T (p.Gly389=)
|
rs1960296503
|
|
NM_001605.3(AARS1):c.1169G>A (p.Arg390His)
|
rs1465496890
|
|
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)
|
|
|
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys)
|
rs147580372
|
|
NM_001605.3(AARS1):c.1172G>A (p.Arg391His)
|
|
|
NM_001605.3(AARS1):c.1174A>G (p.Ile392Val)
|
|
|
NM_001605.3(AARS1):c.1178T>A (p.Leu393Gln)
|
|
|
NM_001605.3(AARS1):c.117G>A (p.Leu39=)
|
|
|
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)
|
rs2152160177
|
|
NM_001605.3(AARS1):c.118C>T (p.Leu40Phe)
|
rs1350361999
|
|
NM_001605.3(AARS1):c.1191T>G (p.Ile397Met)
|
rs2152160165
|
|
NM_001605.3(AARS1):c.1192C>G (p.Gln398Glu)
|
|
|
NM_001605.3(AARS1):c.1196G>A (p.Ser399Asn)
|
|
|
NM_001605.3(AARS1):c.1197C>T (p.Ser399=)
|
|
|
NM_001605.3(AARS1):c.11C>A (p.Thr4Asn)
|
|
|
NM_001605.3(AARS1):c.11C>T (p.Thr4Ile)
|
rs1335517508
|
|
NM_001605.3(AARS1):c.11_15del (p.Thr4fs)
|
rs1211684571
|
|
NM_001605.3(AARS1):c.1200G>T (p.Leu400=)
|
|
|
NM_001605.3(AARS1):c.1206C>T (p.Asp402=)
|
|
|
NM_001605.3(AARS1):c.1209C>G (p.Ser403Arg)
|
|
|
NM_001605.3(AARS1):c.1209C>T (p.Ser403=)
|
rs769521539
|
|
NM_001605.3(AARS1):c.120C>T (p.Leu40=)
|
rs2152170372
|
|
NM_001605.3(AARS1):c.1215C>T (p.Thr405=)
|
|
|
NM_001605.3(AARS1):c.1216A>T (p.Ile406Phe)
|
|
|
NM_001605.3(AARS1):c.1222+16del
|
rs748889882
|
|
NM_001605.3(AARS1):c.1222+17G>A
|
rs755205317
|
|
NM_001605.3(AARS1):c.1222+18C>T
|
|
|
NM_001605.3(AARS1):c.1222+19C>T
|
|
|
NM_001605.3(AARS1):c.1222+5_1222+7delinsTTTTTGC
|
rs1960294143
|
|
NM_001605.3(AARS1):c.1222+7A>G
|
rs200591546
|
|
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg)
|
rs369135192
|
|
NM_001605.3(AARS1):c.1222G>C (p.Gly408Arg)
|
rs369135192
|
|
NM_001605.3(AARS1):c.1222G>T (p.Gly408Ter)
|
rs369135192
|
|
NM_001605.3(AARS1):c.1223-15C>T
|
|
|
NM_001605.3(AARS1):c.1223-18C>T
|
|
|
NM_001605.3(AARS1):c.1223-9G>T
|
rs2152158800
|
|
NM_001605.3(AARS1):c.1233T>C (p.Ala411=)
|
|
|
NM_001605.3(AARS1):c.1243T>A (p.Tyr415Asn)
|
|
|
NM_001605.3(AARS1):c.1244A>C (p.Tyr415Ser)
|
|
|
NM_001605.3(AARS1):c.1251C>G (p.Thr417=)
|
|
|
NM_001605.3(AARS1):c.1254T>C (p.Tyr418=)
|
|
|
NM_001605.3(AARS1):c.1263A>G (p.Pro421=)
|
rs756280590
|
|
NM_001605.3(AARS1):c.126C>G (p.Ala42=)
|
|
|
NM_001605.3(AARS1):c.1272G>A (p.Leu424=)
|
rs1412346348
|
|
NM_001605.3(AARS1):c.1275_1276del (p.Gly426fs)
|
rs1555540896
|
|
NM_001605.3(AARS1):c.1283T>G (p.Ile428Ser)
|
|
|
NM_001605.3(AARS1):c.1294A>C (p.Lys432Gln)
|
|
|
NM_001605.3(AARS1):c.1295A>G (p.Lys432Arg)
|
|
|
NM_001605.3(AARS1):c.1297G>A (p.Gly433Ser)
|
|
|
NM_001605.3(AARS1):c.1298G>C (p.Gly433Ala)
|
|
|
NM_001605.3(AARS1):c.1298G>T (p.Gly433Val)
|
|
|
NM_001605.3(AARS1):c.1299C>T (p.Gly433=)
|
|
|
NM_001605.3(AARS1):c.1301T>A (p.Leu434Gln)
|
rs1960243047
|
|
NM_001605.3(AARS1):c.1302G>C (p.Leu434=)
|
|
|
NM_001605.3(AARS1):c.1305G>T (p.Val435=)
|
|
|
NM_001605.3(AARS1):c.1310A>G (p.Asp437Gly)
|
|
|
NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)
|
|
|
NM_001605.3(AARS1):c.1330G>T (p.Glu444Ter)
|
|
|
NM_001605.3(AARS1):c.1334G>C (p.Arg445Thr)
|
|
|
NM_001605.3(AARS1):c.133G>A (p.Gly45Ser)
|
rs1960729134
|
|
NM_001605.3(AARS1):c.133G>C (p.Gly45Arg)
|
|
|
NM_001605.3(AARS1):c.1347+10T>A
|
|
|
NM_001605.3(AARS1):c.1347+16A>G
|
|
|
NM_001605.3(AARS1):c.1347+7A>G
|
|
|
NM_001605.3(AARS1):c.1347+9C>T
|
|
|
NM_001605.3(AARS1):c.1348-10T>A
|
rs760431632
|
|
NM_001605.3(AARS1):c.1348-10T>C
|
|
|
NM_001605.3(AARS1):c.1348-11C>G
|
rs1332894937
|
|
NM_001605.3(AARS1):c.1348-17G>A
|
|
|
NM_001605.3(AARS1):c.1348-20C>G
|
rs371734869
|
|
NM_001605.3(AARS1):c.1348-20C>T
|
|
|
NM_001605.3(AARS1):c.1348C>G (p.Leu450Val)
|
rs767096851
|
|
NM_001605.3(AARS1):c.1349T>A (p.Leu450Gln)
|
|
|
NM_001605.3(AARS1):c.1360G>A (p.Gly454Ser)
|
|
|
NM_001605.3(AARS1):c.1374T>G (p.Gly458=)
|
|
|
NM_001605.3(AARS1):c.1377G>C (p.Gly459=)
|
|
|
NM_001605.3(AARS1):c.1382A>G (p.Asp461Gly)
|
|
|
NM_001605.3(AARS1):c.1382A>T (p.Asp461Val)
|
rs1195150104
|
|
NM_001605.3(AARS1):c.1393C>G (p.Leu465Val)
|
rs1555540828
|
|
NM_001605.3(AARS1):c.13C>G (p.Leu5Val)
|
|
|
NM_001605.3(AARS1):c.1406C>T (p.Ala469Val)
|
rs1482868893
|
|
NM_001605.3(AARS1):c.1408A>T (p.Ile470Phe)
|
rs879254145
|
|
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn)
|
rs1567605658
|
|
NM_001605.3(AARS1):c.1410C>G (p.Ile470Met)
|
rs79785372
|
|
NM_001605.3(AARS1):c.1417C>T (p.Leu473Phe)
|
|
|
NM_001605.3(AARS1):c.1427G>A (p.Arg476Gln)
|
rs755833227
|
|
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)
|
rs1228135551
|
|
NM_001605.3(AARS1):c.1439T>C (p.Val480Ala)
|
|
|
NM_001605.3(AARS1):c.144+12del
|
|
|
NM_001605.3(AARS1):c.144+12dup
|
|
|
NM_001605.3(AARS1):c.144+14C>T
|
rs757604499
|
|
NM_001605.3(AARS1):c.144+4A>G
|
|
|
NM_001605.3(AARS1):c.144+6G>T
|
|
|
NM_001605.3(AARS1):c.144+7G>A
|
|
|
NM_001605.3(AARS1):c.144+8T>C
|
|
|
NM_001605.3(AARS1):c.1441A>C (p.Thr481Pro)
|
|
|
NM_001605.3(AARS1):c.1444G>C (p.Asp482His)
|
rs763513667
|
|
NM_001605.3(AARS1):c.145-15G>C
|
rs2152167095
|
|
NM_001605.3(AARS1):c.145-17C>A
|
|
|
NM_001605.3(AARS1):c.145-18G>T
|
|
|
NM_001605.3(AARS1):c.145-3T>C
|
rs1006628756
|
|
NM_001605.3(AARS1):c.1458G>C (p.Lys486Asn)
|
|
|
NM_001605.3(AARS1):c.1461C>T (p.Tyr487=)
|
rs1410121757
|
|
NM_001605.3(AARS1):c.1463A>G (p.Asn488Ser)
|
|
|
NM_001605.3(AARS1):c.1463A>T (p.Asn488Ile)
|
|
|
NM_001605.3(AARS1):c.1466A>G (p.Tyr489Cys)
|
|
|
NM_001605.3(AARS1):c.1468C>T (p.His490Tyr)
|
|
|
NM_001605.3(AARS1):c.1469A>G (p.His490Arg)
|
|
|
NM_001605.3(AARS1):c.1479C>T (p.Ser493=)
|
|
|
NM_001605.3(AARS1):c.147T>G (p.Phe49Leu)
|
|
|
NM_001605.3(AARS1):c.1488C>T (p.Ser496=)
|
rs1057048498
|
|
NM_001605.3(AARS1):c.148A>G (p.Lys50Glu)
|
|
|
NM_001605.3(AARS1):c.1492+10T>A
|
|
|
NM_001605.3(AARS1):c.1492+10TG[3]
|
rs758577376
|
|
NM_001605.3(AARS1):c.1492+13G>A
|
rs2152158273
|
|
NM_001605.3(AARS1):c.1492+14C>T
|
|
|
NM_001605.3(AARS1):c.1492+19T>C
|
rs749277642
|
|
NM_001605.3(AARS1):c.1492+3A>T
|
|
|
NM_001605.3(AARS1):c.1492+5G>A
|
rs2152158281
|
|
NM_001605.3(AARS1):c.1492G>T (p.Val498Leu)
|
rs1960227997
|
|
NM_001605.3(AARS1):c.1493-15A>G
|
|
|
NM_001605.3(AARS1):c.1493-19A>G
|
|
|
NM_001605.3(AARS1):c.1493-8T>G
|
|
|
NM_001605.3(AARS1):c.1493-9C>A
|
rs780911124
|
|
NM_001605.3(AARS1):c.1494A>G (p.Val498=)
|
|
|
NM_001605.3(AARS1):c.1496T>G (p.Phe499Cys)
|
|
|
NM_001605.3(AARS1):c.1515G>A (p.Thr505=)
|
rs1057518288
|
|
NM_001605.3(AARS1):c.1517T>A (p.Val506Glu)
|
|
|
NM_001605.3(AARS1):c.1519A>G (p.Met507Val)
|
rs1064797212
|
|
NM_001605.3(AARS1):c.1523C>G (p.Ala508Gly)
|
|
|
NM_001605.3(AARS1):c.1525C>G (p.Leu509Val)
|
rs761096936
|
|
NM_001605.3(AARS1):c.1529G>T (p.Arg510Leu)
|
|
|
NM_001605.3(AARS1):c.1534G>A (p.Glu512Lys)
|
|
|
NM_001605.3(AARS1):c.1534G>C (p.Glu512Gln)
|
|
|
NM_001605.3(AARS1):c.1535AGA[1] (p.Lys513del)
|
rs762162379
|
|
NM_001605.3(AARS1):c.1537A>G (p.Lys513Glu)
|
|
|
NM_001605.3(AARS1):c.1538A>C (p.Lys513Thr)
|
rs2152156683
|
|
NM_001605.3(AARS1):c.1538A>G (p.Lys513Arg)
|
|
|
NM_001605.3(AARS1):c.153C>T (p.Pro51=)
|
rs1191170313
|
|
NM_001605.3(AARS1):c.1545C>A (p.Phe515Leu)
|
rs200578293
|
|
NM_001605.3(AARS1):c.1545C>T (p.Phe515=)
|
|
|
NM_001605.3(AARS1):c.1546G>A (p.Val516Met)
|
rs143844046
|
|
NM_001605.3(AARS1):c.1551A>G (p.Glu517=)
|
rs1597437798
|
|
NM_001605.3(AARS1):c.1560C>T (p.Ser520=)
|
|
|
NM_001605.3(AARS1):c.1563A>G (p.Thr521=)
|
rs1273011840
|
|
NM_001605.3(AARS1):c.156T>C (p.Ile52=)
|
|
|
NM_001605.3(AARS1):c.1579G>A (p.Val527Met)
|
|
|
NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)
|
|
|
NM_001605.3(AARS1):c.1587G>A (p.Leu529=)
|
rs886052255
|
|
NM_001605.3(AARS1):c.1590C>T (p.Asp530=)
|
|
|
NM_001605.3(AARS1):c.1591A>G (p.Lys531Glu)
|
|
|
NM_001605.3(AARS1):c.1596C>T (p.Thr532=)
|
rs142181559
|
|
NM_001605.3(AARS1):c.1600_1603del (p.Phe534fs)
|
|
|
NM_001605.3(AARS1):c.1602C>T (p.Phe534=)
|
|
|
NM_001605.3(AARS1):c.1606G>T (p.Ala536Ser)
|
rs1179099210
|
|
NM_001605.3(AARS1):c.1613A>G (p.Gln538Arg)
|
|
|
NM_001605.3(AARS1):c.1614A>C (p.Gln538His)
|
|
|
NM_001605.3(AARS1):c.1618_1619dup (p.Gln541fs)
|
rs1567604571
|
|
NM_001605.3(AARS1):c.162G>A (p.Leu54=)
|
rs2152167067
|
|
NM_001605.3(AARS1):c.1640A>G (p.Tyr547Cys)
|
rs1328218106
|
|
NM_001605.3(AARS1):c.1642C>T (p.Leu548=)
|
|
|
NM_001605.3(AARS1):c.1647G>A (p.Val549=)
|
|
|
NM_001605.3(AARS1):c.1651G>A (p.Val551Met)
|
rs1060503691
|
|
NM_001605.3(AARS1):c.1654G>T (p.Asp552Tyr)
|
|
|
NM_001605.3(AARS1):c.1657G>A (p.Asp553Asn)
|
|
|
NM_001605.3(AARS1):c.1658A>G (p.Asp553Gly)
|
|
|
NM_001605.3(AARS1):c.1671+12G>C
|
|
|
NM_001605.3(AARS1):c.1671+20T>C
|
|
|
NM_001605.3(AARS1):c.1671+8_1671+15del
|
|
|
NM_001605.3(AARS1):c.1671+9A>G
|
rs1013897408
|
|
NM_001605.3(AARS1):c.1672-15C>T
|
|
|
NM_001605.3(AARS1):c.1672-7C>T
|
|
|
NM_001605.3(AARS1):c.1676C>T (p.Thr559Ile)
|
rs1960123149
|
|
NM_001605.3(AARS1):c.1679_1680del (p.Glu560fs)
|
rs1438690757
|
|
NM_001605.3(AARS1):c.1680G>C (p.Glu560Asp)
|
rs863224707
|
|
NM_001605.3(AARS1):c.1687G>A (p.Val563Met)
|
|
|
NM_001605.3(AARS1):c.1699C>G (p.Gln567Glu)
|
|
|
NM_001605.3(AARS1):c.1705C>T (p.Arg569Ter)
|
|
|
NM_001605.3(AARS1):c.1706G>A (p.Arg569Gln)
|
|
|
NM_001605.3(AARS1):c.1710A>G (p.Gly570=)
|
|
|
NM_001605.3(AARS1):c.1718T>G (p.Val573Gly)
|
rs1167508772
|
|
NM_001605.3(AARS1):c.1719G>A (p.Val573=)
|
|
|
NM_001605.3(AARS1):c.1725C>A (p.His575Gln)
|
|
|
NM_001605.3(AARS1):c.1728T>C (p.Ile576=)
|
|
|
NM_001605.3(AARS1):c.1728T>G (p.Ile576Met)
|
|
|
NM_001605.3(AARS1):c.1735A>G (p.Ile579Val)
|
rs1960121476
|
|
NM_001605.3(AARS1):c.1735A>T (p.Ile579Phe)
|
rs1960121476
|
|
NM_001605.3(AARS1):c.1736T>C (p.Ile579Thr)
|
|
|
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met)
|
rs144323646
|
|
NM_001605.3(AARS1):c.1737C>T (p.Ile579=)
|
rs144323646
|
|
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)
|
rs762734676
|
|
NM_001605.3(AARS1):c.1746C>T (p.Asp582=)
|
|
|
NM_001605.3(AARS1):c.176C>A (p.Pro59Gln)
|
rs1337985053
|
|
NM_001605.3(AARS1):c.1773G>A (p.Leu591=)
|
|
|
NM_001605.3(AARS1):c.1776T>G (p.Phe592Leu)
|
|
|
NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)
|
|
|
NM_001605.3(AARS1):c.1785+10G>A
|
|
|
NM_001605.3(AARS1):c.1785+20C>T
|
|
|
NM_001605.3(AARS1):c.1785+4A>G
|
rs2152155700
|
|
NM_001605.3(AARS1):c.1785+5G>T
|
|
|
NM_001605.3(AARS1):c.1785G>A (p.Glu595=)
|
rs1462458743
|
|
NM_001605.3(AARS1):c.1786-7T>C
|
rs2152154564
|
|
NM_001605.3(AARS1):c.1790G>T (p.Arg597Leu)
|
rs777597230
|
|
NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter)
|
rs752548366
|
|
NM_001605.3(AARS1):c.1793G>A (p.Arg598Gln)
|
|
|
NM_001605.3(AARS1):c.1797A>T (p.Arg599Ser)
|
rs753398944
|
|
NM_001605.3(AARS1):c.1799C>A (p.Pro600His)
|
rs1355373452
|
|
NM_001605.3(AARS1):c.1819G>A (p.Ala607Thr)
|
rs377247120
|
|
NM_001605.3(AARS1):c.1822A>T (p.Thr608Ser)
|
|
|
NM_001605.3(AARS1):c.1824G>A (p.Thr608=)
|
rs199644417
|
|
NM_001605.3(AARS1):c.1824G>C (p.Thr608=)
|
rs199644417
|
|
NM_001605.3(AARS1):c.1827C>T (p.His609=)
|
|
|
NM_001605.3(AARS1):c.1828A>G (p.Ile610Val)
|
|
|
NM_001605.3(AARS1):c.182A>G (p.His61Arg)
|
|
|
NM_001605.3(AARS1):c.1836C>T (p.Asn612=)
|
rs1555540045
|
|
NM_001605.3(AARS1):c.1837T>C (p.Phe613Leu)
|
|
|
NM_001605.3(AARS1):c.1840G>C (p.Ala614Pro)
|
|
|
NM_001605.3(AARS1):c.1842C>T (p.Ala614=)
|
rs1057521642
|
|
NM_001605.3(AARS1):c.1847G>T (p.Arg616Leu)
|
|
|
NM_001605.3(AARS1):c.184C>A (p.Pro62Thr)
|
rs779066703
|
|
NM_001605.3(AARS1):c.1851A>G (p.Ser617=)
|
|
|
NM_001605.3(AARS1):c.1852G>T (p.Val618Leu)
|
|
|
NM_001605.3(AARS1):c.1854G>A (p.Val618=)
|
rs2152154469
|
|
NM_001605.3(AARS1):c.1855C>T (p.Leu619Phe)
|
|
|
NM_001605.3(AARS1):c.1856T>C (p.Leu619Pro)
|
|
|
NM_001605.3(AARS1):c.1860G>C (p.Gly620=)
|
rs2152154460
|
|
NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)
|
|
|
NM_001605.3(AARS1):c.1875A>T (p.Lys625Asn)
|
|
|
NM_001605.3(AARS1):c.1877G>C (p.Gly626Ala)
|
rs2152154443
|
|
NM_001605.3(AARS1):c.1877del (p.Gly626fs)
|
|
|
NM_001605.3(AARS1):c.188T>A (p.Met63Lys)
|
|
|
NM_001605.3(AARS1):c.188T>C (p.Met63Thr)
|
|
|
NM_001605.3(AARS1):c.1898G>A (p.Arg633His)
|
|
|
NM_001605.3(AARS1):c.1902C>T (p.Leu634=)
|
rs2152154407
|
|
NM_001605.3(AARS1):c.1905A>G (p.Arg635=)
|
rs2152154405
|
|
NM_001605.3(AARS1):c.1912T>A (p.Phe638Ile)
|
rs1960068620
|
|
NM_001605.3(AARS1):c.1915A>T (p.Thr639Ser)
|
|
|
NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)
|
|
|
NM_001605.3(AARS1):c.1921A>G (p.Lys641Glu)
|
rs1960068371
|
|
NM_001605.3(AARS1):c.1922A>G (p.Lys641Arg)
|
|
|
NM_001605.3(AARS1):c.1929C>T (p.Ala643=)
|
|
|
NM_001605.3(AARS1):c.1939del (p.Gln647fs)
|
|
|
NM_001605.3(AARS1):c.1947C>G (p.Ile649Met)
|
|
|
NM_001605.3(AARS1):c.1948A>C (p.Lys650Gln)
|
rs573789791
|
|
NM_001605.3(AARS1):c.1953G>A (p.Lys651=)
|
|
|
NM_001605.3(AARS1):c.1953G>C (p.Lys651Asn)
|
rs771099188
|
|
NM_001605.3(AARS1):c.1956T>G (p.Ala652=)
|
rs1194294732
|
|
NM_001605.3(AARS1):c.1965T>C (p.Ile655=)
|
|
|
NM_001605.3(AARS1):c.1967delinsAGGTGATTGAGG (p.Ala656fs)
|
rs1597435790
|
|
NM_001605.3(AARS1):c.1970A>T (p.Asn657Ile)
|
|
|
NM_001605.3(AARS1):c.1971T>A (p.Asn657Lys)
|
|
|
NM_001605.3(AARS1):c.1975A>G (p.Met659Val)
|
rs2152154324
|
|
NM_001605.3(AARS1):c.1981G>A (p.Glu661Lys)
|
|
|
NM_001605.3(AARS1):c.1985C>A (p.Ala662Glu)
|
rs2152154318
|
|
NM_001605.3(AARS1):c.1989C>T (p.Ala663=)
|
rs2152154316
|
|
NM_001605.3(AARS1):c.1992+12G>A
|
|
|
NM_001605.3(AARS1):c.1992+19G>C
|
rs1960065308
|
|
NM_001605.3(AARS1):c.1992+1G>A
|
rs1960065852
|
|
NM_001605.3(AARS1):c.1992+5G>A
|
rs1064796467
|
|
NM_001605.3(AARS1):c.1992+7T>C
|
|
|
NM_001605.3(AARS1):c.1993-13_1993-11del
|
rs1960041397
|
|
NM_001605.3(AARS1):c.1993-16C>G
|
|
|
NM_001605.3(AARS1):c.1993-18G>C
|
|
|
NM_001605.3(AARS1):c.1993-4G>A
|
rs528932248
|
|
NM_001605.3(AARS1):c.1993-7C>T
|
rs753213408
|
|
NM_001605.3(AARS1):c.1998_1999del (p.Thr668fs)
|
rs1597435337
|
|
NM_001605.3(AARS1):c.2000A>C (p.Tyr667Ser)
|
|
|
NM_001605.3(AARS1):c.2004C>T (p.Thr668=)
|
rs1283821119
|
|
NM_001605.3(AARS1):c.2008G>C (p.Asp670His)
|
|
|
NM_001605.3(AARS1):c.2010T>C (p.Asp670=)
|
|
|
NM_001605.3(AARS1):c.2017del (p.Leu673fs)
|
rs781347519
|
|
NM_001605.3(AARS1):c.2018T>A (p.Leu673Gln)
|
|
|
NM_001605.3(AARS1):c.2025A>T (p.Ala675=)
|
|
|
NM_001605.3(AARS1):c.2031A>T (p.Lys677Asn)
|
|
|
NM_001605.3(AARS1):c.2034C>T (p.Ala678=)
|
|
|
NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)
|
|
|
NM_001605.3(AARS1):c.2049G>A (p.Arg683=)
|
|
|
NM_001605.3(AARS1):c.2049G>T (p.Arg683=)
|
rs1960038059
|
|
NM_001605.3(AARS1):c.2053G>A (p.Val685Met)
|
rs531257362
|
|
NM_001605.3(AARS1):c.2059G>A (p.Asp687Asn)
|
rs1597435277
|
|
NM_001605.3(AARS1):c.2059G>C (p.Asp687His)
|
|
|
NM_001605.3(AARS1):c.2069A>C (p.Tyr690Ser)
|
rs563959372
|
|
NM_001605.3(AARS1):c.2069A>G (p.Tyr690Cys)
|
|
|
NM_001605.3(AARS1):c.2070T>G (p.Tyr690Ter)
|
|
|
NM_001605.3(AARS1):c.2071C>A (p.Pro691Thr)
|
|
|
NM_001605.3(AARS1):c.2082G>A (p.Val694=)
|
rs1960037082
|
|
NM_001605.3(AARS1):c.2088C>T (p.Val696=)
|
|
|
NM_001605.3(AARS1):c.2089G>A (p.Val697Ile)
|
rs368191672
|
|
NM_001605.3(AARS1):c.208G>C (p.Ala70Pro)
|
rs1960569577
|
|
NM_001605.3(AARS1):c.2091C>T (p.Val697=)
|
|
|
NM_001605.3(AARS1):c.2092T>A (p.Ser698Thr)
|
rs374062105
|
|
NM_001605.3(AARS1):c.2092T>G (p.Ser698Ala)
|
|
|
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr)
|
rs769778018
|
|
NM_001605.3(AARS1):c.2099G>T (p.Gly700Val)
|
|
|
NM_001605.3(AARS1):c.2100G>A (p.Gly700=)
|
rs2152153574
|
|
NM_001605.3(AARS1):c.2103C>A (p.Val701=)
|
rs1476539357
|
|
NM_001605.3(AARS1):c.2112C>A (p.Ser704=)
|
|
|
NM_001605.3(AARS1):c.2112C>G (p.Ser704=)
|
|
|
NM_001605.3(AARS1):c.2116T>A (p.Leu706Met)
|
|
|
NM_001605.3(AARS1):c.2118G>T (p.Leu706Phe)
|
|
|
NM_001605.3(AARS1):c.2123A>G (p.Asp708Gly)
|
|
|
NM_001605.3(AARS1):c.2125G>A (p.Asp709Asn)
|
rs367806417
|
|
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)
|
rs757167895
|
|
NM_001605.3(AARS1):c.2132C>G (p.Ser711Cys)
|
|
|
NM_001605.3(AARS1):c.2138C>T (p.Pro713Leu)
|
|
|
NM_001605.3(AARS1):c.2148C>T (p.Ser716=)
|
|
|
NM_001605.3(AARS1):c.2149C>T (p.Leu717=)
|
|
|
NM_001605.3(AARS1):c.215C>A (p.Thr72Asn)
|
|
|
NM_001605.3(AARS1):c.215C>T (p.Thr72Ile)
|
rs2152167036
|
|
NM_001605.3(AARS1):c.2162A>C (p.Glu721Ala)
|
|
|
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu)
|
rs115882953
|
|
NM_001605.3(AARS1):c.2169T>C (p.Cys723=)
|
rs2152153481
|
|
NM_001605.3(AARS1):c.2170G>A (p.Gly724Arg)
|
|
|
NM_001605.3(AARS1):c.2176A>C (p.Thr726Pro)
|
rs1312337697
|
|
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala)
|
rs1312337697
|
|
NM_001605.3(AARS1):c.2177+11C>T
|
|
|
NM_001605.3(AARS1):c.2177+13del
|
|
|
NM_001605.3(AARS1):c.2177+20A>G
|
|
|
NM_001605.3(AARS1):c.2177+5G>A
|
rs2152153454
|
|
NM_001605.3(AARS1):c.2177+6T>A
|
|
|
NM_001605.3(AARS1):c.2177+9T>A
|
|
|
NM_001605.3(AARS1):c.2177+9T>G
|
rs2152153451
|
|
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met)
|
rs1480620711
|
|
NM_001605.3(AARS1):c.2178-11C>T
|
|
|
NM_001605.3(AARS1):c.2178-14G>T
|
rs371633904
|
|
NM_001605.3(AARS1):c.2178-17del
|
|
|
NM_001605.3(AARS1):c.2178-4dup
|
rs1567602041
|
|
NM_001605.3(AARS1):c.2178-5T>C
|
|
|
NM_001605.3(AARS1):c.2178-9G>C
|
|
|
NM_001605.3(AARS1):c.2178_2179delinsTT (p.His727Tyr)
|
rs2152151946
|
|
NM_001605.3(AARS1):c.2193G>A (p.Ser731=)
|
rs746349849
|
|
NM_001605.3(AARS1):c.2201C>T (p.Ala734Val)
|
|
|
NM_001605.3(AARS1):c.2202A>T (p.Ala734=)
|
|
|
NM_001605.3(AARS1):c.2216T>C (p.Ile739Thr)
|
rs2152151875
|
|
NM_001605.3(AARS1):c.2217C>G (p.Ile739Met)
|
rs770980206
|
|
NM_001605.3(AARS1):c.2218G>A (p.Val740Met)
|
rs749217453
|
|
NM_001605.3(AARS1):c.2222C>A (p.Thr741Lys)
|
rs148383122
|
|
NM_001605.3(AARS1):c.2223G>C (p.Thr741=)
|
|
|
NM_001605.3(AARS1):c.2227G>A (p.Glu743Lys)
|
rs1358716596
|
|
NM_001605.3(AARS1):c.2233A>C (p.Ile745Leu)
|
|
|
NM_001605.3(AARS1):c.2241G>A (p.Lys747=)
|
|
|
NM_001605.3(AARS1):c.2248C>A (p.Arg750=)
|
|
|
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp)
|
rs751300562
|
|
NM_001605.3(AARS1):c.2255T>C (p.Ile752Thr)
|
|
|
NM_001605.3(AARS1):c.2257G>A (p.Val753Met)
|
|
|
NM_001605.3(AARS1):c.225C>T (p.Cys75=)
|
rs2152167029
|
|
NM_001605.3(AARS1):c.2260G>A (p.Ala754Thr)
|
rs1959974421
|
|
NM_001605.3(AARS1):c.2265C>T (p.Val755=)
|
rs1027921501
|
|
NM_001605.3(AARS1):c.2270G>A (p.Gly757Asp)
|
rs2152151798
|
|
NM_001605.3(AARS1):c.2274C>G (p.Ala758=)
|
|
|
NM_001605.3(AARS1):c.2274C>T (p.Ala758=)
|
rs143430116
|
|
NM_001605.3(AARS1):c.2279C>G (p.Ala760Gly)
|
|
|
NM_001605.3(AARS1):c.2286+6C>T
|
|
|
NM_001605.3(AARS1):c.2286+7A>G
|
rs1597433975
|
|
NM_001605.3(AARS1):c.2286+8G>A
|
|
|
NM_001605.3(AARS1):c.2286+9G>A
|
|
|
NM_001605.3(AARS1):c.2287-10C>T
|
|
|
NM_001605.3(AARS1):c.2287-3C>T
|
|
|
NM_001605.3(AARS1):c.2287-7dup
|
|
|
NM_001605.3(AARS1):c.2294G>A (p.Arg765Lys)
|
rs758250941
|
|
NM_001605.3(AARS1):c.2295G>A (p.Arg765=)
|
|
|
NM_001605.3(AARS1):c.229C>T (p.Arg77Trp)
|
rs1597446225
|
|
NM_001605.3(AARS1):c.2307C>T (p.Ser769=)
|
rs2152150785
|
|
NM_001605.3(AARS1):c.2310G>A (p.Leu770=)
|
|
|
NM_001605.3(AARS1):c.231G>T (p.Arg77=)
|
rs2152167020
|
|
NM_001605.3(AARS1):c.2322C>G (p.Leu774=)
|
rs35769308
|
|
NM_001605.3(AARS1):c.2322C>T (p.Leu774=)
|
rs35769308
|
|
NM_001605.3(AARS1):c.2324_2325del (p.Ser775fs)
|
|
|
NM_001605.3(AARS1):c.2328C>T (p.Val776=)
|
rs146969194
|
|
NM_001605.3(AARS1):c.2330T>C (p.Met777Thr)
|
rs573846062
|
|
NM_001605.3(AARS1):c.2331G>A (p.Met777Ile)
|
rs1335792344
|
|
NM_001605.3(AARS1):c.2339A>C (p.Lys780Thr)
|
|
|
NM_001605.3(AARS1):c.2352G>T (p.Gln784His)
|
|
|
NM_001605.3(AARS1):c.2353A>G (p.Thr785Ala)
|
|
|
NM_001605.3(AARS1):c.2354C>G (p.Thr785Ser)
|
rs774737730
|
|
NM_001605.3(AARS1):c.2358T>C (p.Ala786=)
|
rs2152150749
|
|
NM_001605.3(AARS1):c.236G>C (p.Gly79Ala)
|
rs1960569020
|
|
NM_001605.3(AARS1):c.2371G>A (p.Val791Met)
|
|
|
NM_001605.3(AARS1):c.2375A>G (p.Gln792Arg)
|
rs1959932678
|
|
NM_001605.3(AARS1):c.2382G>A (p.Glu794=)
|
|
|
NM_001605.3(AARS1):c.2385C>G (p.Ile795Met)
|
rs1283711323
|
|
NM_001605.3(AARS1):c.2391C>T (p.Asp797=)
|
rs2152150720
|
|
NM_001605.3(AARS1):c.23G>A (p.Ser8Asn)
|
|
|
NM_001605.3(AARS1):c.2400+15C>T
|
|
|
NM_001605.3(AARS1):c.2400+20C>T
|
|
|
NM_001605.3(AARS1):c.2400+5G>A
|
|
|
NM_001605.3(AARS1):c.2400+7G>A
|
|
|
NM_001605.3(AARS1):c.2400+8C>A
|
|
|
NM_001605.3(AARS1):c.2400+8C>G
|
|
|
NM_001605.3(AARS1):c.2400+9G>A
|
|
|
NM_001605.3(AARS1):c.2401-11A>C
|
rs377576408
|
|
NM_001605.3(AARS1):c.2401-11A>G
|
rs377576408
|
|
NM_001605.3(AARS1):c.2401-11A>T
|
rs377576408
|
|
NM_001605.3(AARS1):c.2401-16C>G
|
|
|
NM_001605.3(AARS1):c.2401-18G>A
|
|
|
NM_001605.3(AARS1):c.2402C>T (p.Ala801Val)
|
|
|
NM_001605.3(AARS1):c.2405T>A (p.Leu802Gln)
|
rs1959916452
|
|
NM_001605.3(AARS1):c.2411C>G (p.Thr804Ser)
|
|
|
NM_001605.3(AARS1):c.2414C>T (p.Ala805Val)
|
rs865779159
|
|
NM_001605.3(AARS1):c.2421C>A (p.Ile807=)
|
rs768412428
|
|
NM_001605.3(AARS1):c.2428T>C (p.Trp810Arg)
|
|
|
NM_001605.3(AARS1):c.2435A>G (p.Lys812Arg)
|
rs1179785822
|
|
NM_001605.3(AARS1):c.2452A>G (p.Thr818Ala)
|
rs1567601050
|
|
NM_001605.3(AARS1):c.2457C>G (p.Leu819=)
|
rs1485047907
|
|
NM_001605.3(AARS1):c.2471A>G (p.Lys824Arg)
|
rs2152150233
|
|
NM_001605.3(AARS1):c.2475C>T (p.Val825=)
|
rs1160997883
|
|
NM_001605.3(AARS1):c.2476A>C (p.Met826Leu)
|
|
|
NM_001605.3(AARS1):c.2476A>G (p.Met826Val)
|
|
|
NM_001605.3(AARS1):c.2477T>C (p.Met826Thr)
|
|
|
NM_001605.3(AARS1):c.2481T>A (p.Asp827Glu)
|
rs1959913690
|
|
NM_001605.3(AARS1):c.2490C>T (p.Asp830=)
|
|
|
NM_001605.3(AARS1):c.2494G>T (p.Ala832Ser)
|
|
|
NM_001605.3(AARS1):c.2495C>T (p.Ala832Val)
|
rs2152150203
|
|
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn)
|
rs1217292644
|
|
NM_001605.3(AARS1):c.2508T>C (p.Asp836=)
|
|
|
NM_001605.3(AARS1):c.2509G>A (p.Val837Ile)
|
|
|
NM_001605.3(AARS1):c.250G>T (p.Asp84Tyr)
|
|
|
NM_001605.3(AARS1):c.2517A>G (p.Lys839=)
|
|
|
NM_001605.3(AARS1):c.2520+12C>T
|
|
|
NM_001605.3(AARS1):c.2520+18C>T
|
|
|
NM_001605.3(AARS1):c.2520+7C>T
|
|
|
NM_001605.3(AARS1):c.2521-11T>C
|
|
|
NM_001605.3(AARS1):c.2521-12T>C
|
rs200328881
|
|
NM_001605.3(AARS1):c.2521-16G>A
|
|
|
NM_001605.3(AARS1):c.2521-41_2521-16del
|
|
|
NM_001605.3(AARS1):c.2521-4_2521-3delinsAA
|
rs1959908890
|
|
NM_001605.3(AARS1):c.2521G>A (p.Val841Met)
|
rs1377534422
|
|
NM_001605.3(AARS1):c.2527G>C (p.Glu843Gln)
|
|
|
NM_001605.3(AARS1):c.252C>T (p.Asp84=)
|
|
|
NM_001605.3(AARS1):c.2534C>T (p.Thr845Met)
|
rs1959908249
|
|
NM_001605.3(AARS1):c.2538_2539delinsTT (p.Lys846_Gln847delinsAsnTer)
|
|
|
NM_001605.3(AARS1):c.2545A>G (p.Ile849Val)
|
|
|
NM_001605.3(AARS1):c.2550C>T (p.Asp850=)
|
|
|
NM_001605.3(AARS1):c.2552_2553delinsAA (p.Ser851Lys)
|
|
|
NM_001605.3(AARS1):c.2555A>G (p.Asn852Ser)
|
rs1959907229
|
|
NM_001605.3(AARS1):c.2561A>G (p.Asn854Ser)
|
|
|
NM_001605.3(AARS1):c.2567C>T (p.Pro856Leu)
|
rs1273114725
|
|
NM_001605.3(AARS1):c.2577C>T (p.Ile859=)
|
|
|
NM_001605.3(AARS1):c.2586G>A (p.Met862Ile)
|
|
|
NM_001605.3(AARS1):c.2591G>A (p.Ser864Asn)
|
|
|
NM_001605.3(AARS1):c.2595C>T (p.Gly865=)
|
rs751781504
|
|
NM_001605.3(AARS1):c.2600C>T (p.Ser867Leu)
|
|
|
NM_001605.3(AARS1):c.2607+12G>C
|
|
|
NM_001605.3(AARS1):c.2607+13C>A
|
|
|
NM_001605.3(AARS1):c.2607+14C>T
|
|
|
NM_001605.3(AARS1):c.2607+18G>A
|
rs760437667
|
|
NM_001605.3(AARS1):c.2607+18G>T
|
rs760437667
|
|
NM_001605.3(AARS1):c.2607+20C>G
|
|
|
NM_001605.3(AARS1):c.2607+2C>T
|
|
|
NM_001605.3(AARS1):c.2607+8A>G
|
rs1597432621
|
|
NM_001605.3(AARS1):c.2608-11C>G
|
|
|
NM_001605.3(AARS1):c.2608-14G>A
|
|
|
NM_001605.3(AARS1):c.2608-16C>G
|
rs371163247
|
|
NM_001605.3(AARS1):c.2608-16C>T
|
rs371163247
|
|
NM_001605.3(AARS1):c.2608-17C>G
|
rs955702969
|
|
NM_001605.3(AARS1):c.2608-18G>T
|
|
|
NM_001605.3(AARS1):c.2612T>C (p.Leu871Pro)
|
rs2152149764
|
|
NM_001605.3(AARS1):c.2622C>T (p.Ala874=)
|
rs1597432428
|
|
NM_001605.3(AARS1):c.2630T>C (p.Leu877Pro)
|
rs2152149752
|
|
NM_001605.3(AARS1):c.2630T>G (p.Leu877Arg)
|
|
|
NM_001605.3(AARS1):c.2638A>G (p.Met880Val)
|
|
|
NM_001605.3(AARS1):c.2641C>T (p.His881Tyr)
|
|
|
NM_001605.3(AARS1):c.2642A>G (p.His881Arg)
|
|
|
NM_001605.3(AARS1):c.2643C>G (p.His881Gln)
|
|
|
NM_001605.3(AARS1):c.2653A>G (p.Thr885Ala)
|
|
|
NM_001605.3(AARS1):c.2664G>A (p.Met888Ile)
|
|
|
NM_001605.3(AARS1):c.2673G>A (p.Thr891=)
|
|
|
NM_001605.3(AARS1):c.2694G>T (p.Lys898Asn)
|
|
|
NM_001605.3(AARS1):c.2706G>A (p.Leu902=)
|
rs1214694193
|
|
NM_001605.3(AARS1):c.2706G>T (p.Leu902=)
|
|
|
NM_001605.3(AARS1):c.270G>A (p.Lys90=)
|
rs1597446213
|
|
NM_001605.3(AARS1):c.2712A>G (p.Gln904=)
|
rs1555539241
|
|
NM_001605.3(AARS1):c.2713G>T (p.Val905Phe)
|
|
|
NM_001605.3(AARS1):c.2715T>A (p.Val905=)
|
rs4081753
|
|
NM_001605.3(AARS1):c.2716C>G (p.Pro906Ala)
|
|
|
NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)
|
|
|
NM_001605.3(AARS1):c.2721+12C>T
|
|
|
NM_001605.3(AARS1):c.2721+14C>G
|
rs369055609
|
|
NM_001605.3(AARS1):c.2721+15G>A
|
rs377325175
|
|
NM_001605.3(AARS1):c.2721+15G>C
|
rs377325175
|
|
NM_001605.3(AARS1):c.2721+15G>T
|
rs377325175
|
|
NM_001605.3(AARS1):c.2721+17A>T
|
rs2152149667
|
|
NM_001605.3(AARS1):c.2722-20C>G
|
|
|
NM_001605.3(AARS1):c.2722-28_2740dup
|
rs768242660
|
|
NM_001605.3(AARS1):c.2722-2A>C
|
|
|
NM_001605.3(AARS1):c.2722-2A>T
|
rs1273121575
|
|
NM_001605.3(AARS1):c.2722-7C>T
|
rs2152149455
|
|
NM_001605.3(AARS1):c.2722-9del
|
|
|
NM_001605.3(AARS1):c.2724T>A (p.Asn908Lys)
|
|
|
NM_001605.3(AARS1):c.2724T>C (p.Asn908=)
|
rs2152149449
|
|
NM_001605.3(AARS1):c.2728G>A (p.Ala910Thr)
|
|
|
NM_001605.3(AARS1):c.2736G>T (p.Arg912=)
|
|
|
NM_001605.3(AARS1):c.2738G>T (p.Gly913Val)
|
rs369774476
|
|
NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer)
|
rs747345978
|
|
NM_001605.3(AARS1):c.2748C>T (p.Ala916=)
|
|
|
NM_001605.3(AARS1):c.2749A>C (p.Ser917Arg)
|
rs2152149427
|
|
NM_001605.3(AARS1):c.2751C>T (p.Ser917=)
|
|
|
NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter)
|
rs1959876202
|
|
NM_001605.3(AARS1):c.2765A>T (p.Gln922Leu)
|
rs2152149415
|
|
NM_001605.3(AARS1):c.276C>G (p.Val92=)
|
rs774991720
|
|
NM_001605.3(AARS1):c.2776T>C (p.Leu926=)
|
rs1597432045
|
|
NM_001605.3(AARS1):c.277T>C (p.Tyr93His)
|
|
|
NM_001605.3(AARS1):c.2785G>A (p.Gly929Ser)
|
|
|
NM_001605.3(AARS1):c.2811T>C (p.Ser937=)
|
|
|
NM_001605.3(AARS1):c.2814A>C (p.Ala938=)
|
|
|
NM_001605.3(AARS1):c.2817G>T (p.Gln939His)
|
rs140048586
|
|
NM_001605.3(AARS1):c.2818G>T (p.Ala940Ser)
|
|
|
NM_001605.3(AARS1):c.2819C>T (p.Ala940Val)
|
rs1959874409
|
|
NM_001605.3(AARS1):c.2822C>G (p.Thr941Arg)
|
|
|
NM_001605.3(AARS1):c.2822C>T (p.Thr941Ile)
|
|
|
NM_001605.3(AARS1):c.2837G>T (p.Gly946Val)
|
|
|
NM_001605.3(AARS1):c.2838C>T (p.Gly946=)
|
|
|
NM_001605.3(AARS1):c.2841C>T (p.Cys947=)
|
rs1555539162
|
|
NM_001605.3(AARS1):c.2849A>T (p.Glu950Val)
|
rs1205588554
|
|
NM_001605.3(AARS1):c.2853G>A (p.Ala951=)
|
|
|
NM_001605.3(AARS1):c.2859G>C (p.Gln953His)
|
|
|
NM_001605.3(AARS1):c.2860C>T (p.Leu954=)
|
rs1959872785
|
|
NM_001605.3(AARS1):c.2863G>C (p.Ala955Pro)
|
|
|
NM_001605.3(AARS1):c.2867C>G (p.Thr956Ser)
|
|
|
NM_001605.3(AARS1):c.2867C>T (p.Thr956Ile)
|
rs747833388
|
|
NM_001605.3(AARS1):c.2868T>G (p.Thr956=)
|
|
|
NM_001605.3(AARS1):c.286A>G (p.Thr96Ala)
|
|
|
NM_001605.3(AARS1):c.2870C>A (p.Ser957Tyr)
|
|
|
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys)
|
rs146540551
|
|
NM_001605.3(AARS1):c.2879A>C (p.Gln960Pro)
|
rs1959872136
|
|
NM_001605.3(AARS1):c.2880G>C (p.Gln960His)
|
|
|
NM_001605.3(AARS1):c.2882T>C (p.Leu961Pro)
|
|
|
NM_001605.3(AARS1):c.2889C>G (p.Leu963=)
|
rs75033663
|
|
NM_001605.3(AARS1):c.2889C>T (p.Leu963=)
|
rs75033663
|
|
NM_001605.3(AARS1):c.2890G>A (p.Gly964Arg)
|
|
|
NM_001605.3(AARS1):c.289TTC[1] (p.Phe98del)
|
rs773602581
|
|
NM_001605.3(AARS1):c.2901G>C (p.Lys967Asn)
|
rs762241810
|
|
NM_001605.3(AARS1):c.2906G>C (p.Ter969Ser)
|
|
|
NM_001605.3(AARS1):c.299T>C (p.Met100Thr)
|
|
|
NM_001605.3(AARS1):c.29T>C (p.Ile10Thr)
|
|
|
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)
|
rs1597446183
|
|
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer)
|
rs763937206
|
|
NM_001605.3(AARS1):c.333+12G>A
|
|
|
NM_001605.3(AARS1):c.333+15G>A
|
|
|
NM_001605.3(AARS1):c.333+18_333+20del
|
rs2152166939
|
|
NM_001605.3(AARS1):c.333+3A>G
|
rs747431164
|
|
NM_001605.3(AARS1):c.333+4A>C
|
rs2152166953
|
|
NM_001605.3(AARS1):c.333G>A (p.Lys111=)
|
rs1597446167
|
|
NM_001605.3(AARS1):c.334-10C>A
|
rs758124515
|
|
NM_001605.3(AARS1):c.334-14T>G
|
rs2152166778
|
|
NM_001605.3(AARS1):c.334-15C>T
|
|
|
NM_001605.3(AARS1):c.334-19C>G
|
|
|
NM_001605.3(AARS1):c.334-19CT[2]
|
rs1305114725
|
|
NM_001605.3(AARS1):c.334-6_338del
|
rs2152166762
|
|
NM_001605.3(AARS1):c.334G>A (p.Glu112Lys)
|
|
|
NM_001605.3(AARS1):c.336A>G (p.Glu112=)
|
rs759137116
|
|
NM_001605.3(AARS1):c.337T>C (p.Leu113=)
|
|
|
NM_001605.3(AARS1):c.339G>C (p.Leu113Phe)
|
rs1960558852
|
|
NM_001605.3(AARS1):c.342A>C (p.Ala114=)
|
rs190680402
|
|
NM_001605.3(AARS1):c.342A>G (p.Ala114=)
|
rs190680402
|
|
NM_001605.3(AARS1):c.352G>C (p.Ala118Pro)
|
|
|
NM_001605.3(AARS1):c.354T>C (p.Ala118=)
|
|
|
NM_001605.3(AARS1):c.35A>G (p.Gln12Arg)
|
rs1960733766
|
|
NM_001605.3(AARS1):c.370C>T (p.Gln124Ter)
|
|
|
NM_001605.3(AARS1):c.377T>A (p.Phe126Tyr)
|
|
|
NM_001605.3(AARS1):c.377T>C (p.Phe126Ser)
|
|
|
NM_001605.3(AARS1):c.380G>T (p.Gly127Val)
|
|
|
NM_001605.3(AARS1):c.386C>T (p.Pro129Leu)
|
|
|
NM_001605.3(AARS1):c.387C>T (p.Pro129=)
|
rs1960557000
|
|
NM_001605.3(AARS1):c.388A>G (p.Ile130Val)
|
|
|
NM_001605.3(AARS1):c.390T>G (p.Ile130Met)
|
|
|
NM_001605.3(AARS1):c.397C>G (p.Leu133Val)
|
|
|
NM_001605.3(AARS1):c.399T>G (p.Leu133=)
|
|
|
NM_001605.3(AARS1):c.400T>C (p.Tyr134His)
|
rs1960556610
|
|
NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)
|
|
|
NM_001605.3(AARS1):c.427G>A (p.Ala143Thr)
|
rs2152166712
|
|
NM_001605.3(AARS1):c.428C>T (p.Ala143Val)
|
|
|
NM_001605.3(AARS1):c.429A>C (p.Ala143=)
|
rs1457318201
|
|
NM_001605.3(AARS1):c.431_445del (p.Ala144_Ala148del)
|
|
|
NM_001605.3(AARS1):c.43A>C (p.Ile15Leu)
|
|
|
NM_001605.3(AARS1):c.443C>T (p.Ala148Val)
|
rs1960555053
|
|
NM_001605.3(AARS1):c.445G>C (p.Asp149His)
|
|
|
NM_001605.3(AARS1):c.453A>G (p.Glu151=)
|
rs765555696
|
|
NM_001605.3(AARS1):c.461A>C (p.Gln154Pro)
|
|
|
NM_001605.3(AARS1):c.461A>G (p.Gln154Arg)
|
|
|
NM_001605.3(AARS1):c.462G>C (p.Gln154His)
|
rs1164802341
|
|
NM_001605.3(AARS1):c.465C>G (p.Ile155Met)
|
|
|
NM_001605.3(AARS1):c.46G>A (p.Asp16Asn)
|
|
|
NM_001605.3(AARS1):c.477G>A (p.Leu159=)
|
|
|
NM_001605.3(AARS1):c.479+10C>A
|
|
|
NM_001605.3(AARS1):c.479+10C>T
|
|
|
NM_001605.3(AARS1):c.479+5G>A
|
rs1487772006
|
|
NM_001605.3(AARS1):c.480-18T>C
|
|
|
NM_001605.3(AARS1):c.480-8T>G
|
rs751472610
|
|
NM_001605.3(AARS1):c.480G>C (p.Gly160=)
|
rs2152163363
|
|
NM_001605.3(AARS1):c.481C>T (p.Leu161=)
|
|
|
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly)
|
rs1597443484
|
|
NM_001605.3(AARS1):c.490A>G (p.Thr164Ala)
|
|
|
NM_001605.3(AARS1):c.493A>G (p.Lys165Glu)
|
rs2152163346
|
|
NM_001605.3(AARS1):c.499C>T (p.Leu167Phe)
|
|
|
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
|
rs1567608510
|
|
NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)
|
|
|
NM_001605.3(AARS1):c.50T>C (p.Phe17Ser)
|
|
|
NM_001605.3(AARS1):c.510C>T (p.Asn170=)
|
|
|
NM_001605.3(AARS1):c.535G>A (p.Gly179Ser)
|
|
|
NM_001605.3(AARS1):c.542C>T (p.Thr181Met)
|
|
|
NM_001605.3(AARS1):c.543G>A (p.Thr181=)
|
rs900751261
|
|
NM_001605.3(AARS1):c.555T>A (p.Gly185=)
|
|
|
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)
|
|
|
NM_001605.3(AARS1):c.571C>T (p.His191Tyr)
|
|
|
NM_001605.3(AARS1):c.583A>G (p.Ile195Val)
|
|
|
NM_001605.3(AARS1):c.58A>T (p.Arg20Trp)
|
rs770697148
|
|
NM_001605.3(AARS1):c.593G>A (p.Arg198Gln)
|
|
|
NM_001605.3(AARS1):c.598G>A (p.Ala200Thr)
|
|
|
NM_001605.3(AARS1):c.601G>C (p.Ala201Pro)
|
rs760716722
|
|
NM_001605.3(AARS1):c.601G>T (p.Ala201Ser)
|
rs760716722
|
|
NM_001605.3(AARS1):c.602C>G (p.Ala201Gly)
|
rs1028669019
|
|
NM_001605.3(AARS1):c.612C>T (p.Val204=)
|
|
|
NM_001605.3(AARS1):c.615C>G (p.Asn205Lys)
|
rs1180375496
|
|
NM_001605.3(AARS1):c.617A>G (p.Gln206Arg)
|
|
|
NM_001605.3(AARS1):c.618G>A (p.Gln206=)
|
rs139785247
|
|
NM_001605.3(AARS1):c.61A>G (p.Asn21Asp)
|
|
|
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu)
|
rs147424208
|
|
NM_001605.3(AARS1):c.621C>T (p.Asp207=)
|
rs147424208
|
|
NM_001605.3(AARS1):c.622G>C (p.Asp208His)
|
rs780893599
|
|
NM_001605.3(AARS1):c.623A>C (p.Asp208Ala)
|
|
|
NM_001605.3(AARS1):c.624C>G (p.Asp208Glu)
|
rs1960410317
|
|
NM_001605.3(AARS1):c.636G>A (p.Leu212=)
|
|
|
NM_001605.3(AARS1):c.639G>A (p.Glu213=)
|
rs2152163164
|
|
NM_001605.3(AARS1):c.63C>G (p.Asn21Lys)
|
|
|
NM_001605.3(AARS1):c.641T>G (p.Ile214Ser)
|
rs1960409749
|
|
NM_001605.3(AARS1):c.648C>G (p.Asn216Lys)
|
rs753186792
|
|
NM_001605.3(AARS1):c.651T>C (p.Leu217=)
|
rs1960409154
|
|
NM_001605.3(AARS1):c.651del (p.Val218fs)
|
rs1960409206
|
|
NM_001605.3(AARS1):c.658A>C (p.Ile220Leu)
|
|
|
NM_001605.3(AARS1):c.664T>A (p.Tyr222Asn)
|
rs1960408934
|
|
NM_001605.3(AARS1):c.665A>G (p.Tyr222Cys)
|
|
|
NM_001605.3(AARS1):c.667A>G (p.Asn223Asp)
|
|
|
NM_001605.3(AARS1):c.671+15C>A
|
|
|
NM_001605.3(AARS1):c.671+18C>A
|
|
|
NM_001605.3(AARS1):c.672-10G>T
|
|
|
NM_001605.3(AARS1):c.672-15T>C
|
|
|
NM_001605.3(AARS1):c.672-16C>T
|
|
|
NM_001605.3(AARS1):c.672-19C>G
|
|
|
NM_001605.3(AARS1):c.672-5T>A
|
|
|
NM_001605.3(AARS1):c.672-5T>C
|
rs777431545
|
|
NM_001605.3(AARS1):c.682G>A (p.Gly228Ser)
|
|
|
NM_001605.3(AARS1):c.686T>C (p.Ile229Thr)
|
rs530889354
|
|
NM_001605.3(AARS1):c.688C>T (p.Leu230=)
|
|
|
NM_001605.3(AARS1):c.68A>G (p.His23Arg)
|
|
|
NM_001605.3(AARS1):c.691A>T (p.Lys231Ter)
|
|
|
NM_001605.3(AARS1):c.695C>G (p.Pro232Arg)
|
|
|
NM_001605.3(AARS1):c.701C>G (p.Pro234Arg)
|
rs1960368917
|
|
NM_001605.3(AARS1):c.706A>G (p.Lys236Glu)
|
|
|
NM_001605.3(AARS1):c.709A>G (p.Ser237Gly)
|
rs2152162176
|
|
NM_001605.3(AARS1):c.70A>T (p.Thr24Ser)
|
|
|
NM_001605.3(AARS1):c.722G>C (p.Gly241Ala)
|
|
|
NM_001605.3(AARS1):c.726G>C (p.Met242Ile)
|
rs780360628
|
|
NM_001605.3(AARS1):c.72G>C (p.Thr24=)
|
|
|
NM_001605.3(AARS1):c.736C>A (p.Arg246=)
|
rs756337758
|
|
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)
|
rs756337758
|
|
NM_001605.3(AARS1):c.739C>A (p.Leu247Met)
|
rs557956516
|
|
NM_001605.3(AARS1):c.743T>C (p.Val248Ala)
|
rs565851586
|
|
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)
|
rs1300927114
|
|
NM_001605.3(AARS1):c.756G>C (p.Gln252His)
|
|
|
NM_001605.3(AARS1):c.761A>C (p.Lys254Thr)
|
rs1037360663
|
|
NM_001605.3(AARS1):c.767C>A (p.Ser256Tyr)
|
|
|
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys)
|
rs1597442205
|
|
NM_001605.3(AARS1):c.774T>C (p.Tyr258=)
|
rs2152162118
|
|
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala)
|
rs1165867512
|
|
NM_001605.3(AARS1):c.785_793del (p.Leu262_Val264del)
|
|
|
NM_001605.3(AARS1):c.797A>G (p.Tyr266Cys)
|
rs1567607754
|
|
NM_001605.3(AARS1):c.798C>T (p.Tyr266=)
|
|
|
NM_001605.3(AARS1):c.811C>G (p.Gln271Glu)
|
rs1597442182
|
|
NM_001605.3(AARS1):c.815A>C (p.Lys272Thr)
|
|
|
NM_001605.3(AARS1):c.816+13T>C
|
|
|
NM_001605.3(AARS1):c.816+15G>T
|
rs1057248434
|
|
NM_001605.3(AARS1):c.816+20C>G
|
|
|
NM_001605.3(AARS1):c.816+6G>T
|
rs2152162075
|
|
NM_001605.3(AARS1):c.816+9G>A
|
|
|
NM_001605.3(AARS1):c.817-11C>G
|
|
|
NM_001605.3(AARS1):c.817-11C>T
|
|
|
NM_001605.3(AARS1):c.817-16del
|
rs2152161834
|
|
NM_001605.3(AARS1):c.817-1G>A
|
rs866662905
|
|
NM_001605.3(AARS1):c.817-3T>C
|
|
|
NM_001605.3(AARS1):c.817-3dup
|
|
|
NM_001605.3(AARS1):c.817-4A>C
|
|
|
NM_001605.3(AARS1):c.81C>G (p.His27Gln)
|
|
|
NM_001605.3(AARS1):c.821C>G (p.Thr274Arg)
|
|
|
NM_001605.3(AARS1):c.822A>T (p.Thr274=)
|
rs757503544
|
|
NM_001605.3(AARS1):c.826G>A (p.Ala276Thr)
|
|
|
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)
|
|
|
NM_001605.3(AARS1):c.830G>C (p.Arg277Pro)
|
|
|
NM_001605.3(AARS1):c.832C>G (p.Pro278Ala)
|
rs1251770154
|
|
NM_001605.3(AARS1):c.832C>T (p.Pro278Ser)
|
|
|
NM_001605.3(AARS1):c.834A>G (p.Pro278=)
|
|
|
NM_001605.3(AARS1):c.836A>C (p.Tyr279Ser)
|
|
|
NM_001605.3(AARS1):c.83C>T (p.Ser28Leu)
|
rs1326668375
|
|
NM_001605.3(AARS1):c.841G>C (p.Gly281Arg)
|
rs750278639
|
|
NM_001605.3(AARS1):c.846A>G (p.Lys282=)
|
rs561670727
|
|
NM_001605.3(AARS1):c.850G>A (p.Gly284Ser)
|
|
|
NM_001605.3(AARS1):c.853G>T (p.Ala285Ser)
|
rs2152161765
|
|
NM_001605.3(AARS1):c.856G>A (p.Glu286Lys)
|
rs2152161761
|
|
NM_001605.3(AARS1):c.877A>G (p.Met293Val)
|
rs762420332
|
|
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
|
|
|
NM_001605.3(AARS1):c.885C>T (p.Tyr295=)
|
|
|
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
|
|
|
NM_001605.3(AARS1):c.887G>C (p.Arg296Pro)
|
rs1375611364
|
|
NM_001605.3(AARS1):c.893T>A (p.Leu298Gln)
|
|
|
NM_001605.3(AARS1):c.896C>T (p.Ala299Val)
|
|
|
NM_001605.3(AARS1):c.897T>C (p.Ala299=)
|
|
|
NM_001605.3(AARS1):c.89C>T (p.Ala30Val)
|
|
|
NM_001605.3(AARS1):c.906T>C (p.Ala302=)
|
|
|
NM_001605.3(AARS1):c.907C>G (p.Arg303Gly)
|
rs1302363015
|
|
NM_001605.3(AARS1):c.909G>T (p.Arg303=)
|
rs1344681812
|
|
NM_001605.3(AARS1):c.911C>A (p.Thr304Asn)
|
|
|
NM_001605.3(AARS1):c.911C>T (p.Thr304Ile)
|
rs2152161709
|
|
NM_001605.3(AARS1):c.912C>G (p.Thr304=)
|
rs2152161707
|
|
NM_001605.3(AARS1):c.913A>C (p.Ile305Leu)
|
|
|
NM_001605.3(AARS1):c.923C>T (p.Ala308Val)
|
|
|
NM_001605.3(AARS1):c.926T>C (p.Leu309Pro)
|
rs1960350126
|
|
NM_001605.3(AARS1):c.937G>T (p.Gly313Cys)
|
|
|
NM_001605.3(AARS1):c.938G>A (p.Gly313Asp)
|
rs1679069745
|
|
NM_001605.3(AARS1):c.940C>A (p.Arg314=)
|
|
|
NM_001605.3(AARS1):c.941G>A (p.Arg314Gln)
|
rs370496079
|
|
NM_001605.3(AARS1):c.942G>T (p.Arg314=)
|
|
|
NM_001605.3(AARS1):c.958C>G (p.Arg320Gly)
|
rs138490305
|
|
NM_001605.3(AARS1):c.962+10C>G
|
|
|
NM_001605.3(AARS1):c.962+11T>C
|
|
|
NM_001605.3(AARS1):c.962+19G>C
|
rs1427580064
|
|
NM_001605.3(AARS1):c.962+1G>T
|
|
|
NM_001605.3(AARS1):c.962+1del
|
rs1960348987
|
|
NM_001605.3(AARS1):c.962+7A>G
|
|
|
NM_001605.3(AARS1):c.962+8T>C
|
|
|
NM_001605.3(AARS1):c.963-12T>C
|
|
|
NM_001605.3(AARS1):c.963-8T>C
|
|
|
NM_001605.3(AARS1):c.963-9C>T
|
|
|
NM_001605.3(AARS1):c.966T>A (p.Tyr322Ter)
|
|
|
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
|
|
|
NM_001605.3(AARS1):c.967G>T (p.Val323Leu)
|
rs2152160767
|
|
NM_001605.3(AARS1):c.96C>A (p.Ile32=)
|
|
|
NM_001605.3(AARS1):c.982C>A (p.Leu328Ile)
|
|
|
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys)
|
rs1064795664
|
|
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621
|
|
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter)
|
rs868097991
|
|
NM_001605.3(AARS1):c.9T>C (p.Ser3=)
|
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1001T>C (p.Ile334Thr)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1001T>G (p.Ile334Ser)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
NM_002047.4(GARS1):c.1005C>T (p.Ser335=)
|
|
|
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser)
|
rs1554338264
|
|
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg)
|
rs2128134025
|
|
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)
|
|
|
NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter)
|
rs767696937
|
|
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)
|
|
|
NM_002047.4(GARS1):c.1017A>G (p.Gly339=)
|
|
|
NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)
|
|
|
NM_002047.4(GARS1):c.1023C>T (p.Ile341=)
|
|
|
NM_002047.4(GARS1):c.1031+10A>T
|
|
|
NM_002047.4(GARS1):c.1031+19T>C
|
|
|
NM_002047.4(GARS1):c.1031+1G>A
|
rs1554338272
|
|
NM_002047.4(GARS1):c.1031+6G>T
|
rs2128134034
|
|
NM_002047.4(GARS1):c.1031+7C>T
|
|
|
NM_002047.4(GARS1):c.1031+9C>G
|
|
|
NM_002047.4(GARS1):c.1032-6T>C
|
|
|
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly)
|
rs1554338641
|
|
NM_002047.4(GARS1):c.1041A>C (p.Thr347=)
|
|
|
NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)
|
|
|
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys)
|
rs770934994
|
|
NM_002047.4(GARS1):c.1067A>G (p.Asp356Gly)
|
|
|
NM_002047.4(GARS1):c.1068T>A (p.Asp356Glu)
|
rs1344399581
|
|
NM_002047.4(GARS1):c.1088C>G (p.Pro363Arg)
|
|
|
NM_002047.4(GARS1):c.1092G>T (p.Lys364Asn)
|
rs1357360844
|
|
NM_002047.4(GARS1):c.1109A>G (p.Asp370Gly)
|
|
|
NM_002047.4(GARS1):c.110G>A (p.Ser37Asn)
|
rs2128131936
|
|
NM_002047.4(GARS1):c.110del (p.Ser37fs)
|
rs1284420601
|
|
NM_002047.4(GARS1):c.1123T>C (p.Leu375=)
|
rs544280407
|
|
NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg)
|
rs2128134481
|
|
NM_002047.4(GARS1):c.1155G>C (p.Gln385His)
|
rs1584038245
|
|
NM_002047.4(GARS1):c.1162C>A (p.Arg388=)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1168A>G (p.Met390Val)
|
|
|
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1172G>A (p.Arg391His)
|
rs199832199
|
|
NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)
|
|
|
NM_002047.4(GARS1):c.1176G>A (p.Leu392=)
|
|
|
NM_002047.4(GARS1):c.117C>T (p.Ala39=)
|
|
|
NM_002047.4(GARS1):c.1181A>G (p.Asp394Gly)
|
rs1278294610
|
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836
|
|
NM_002047.4(GARS1):c.1194+12G>C
|
|
|
NM_002047.4(GARS1):c.1195-8T>C
|
|
|
NM_002047.4(GARS1):c.1198G>A (p.Val400Met)
|
rs1782903666
|
|
NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)
|
|
|
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser)
|
rs1000458033
|
|
NM_002047.4(GARS1):c.1225T>G (p.Phe409Val)
|
rs1782904125
|
|
NM_002047.4(GARS1):c.1227C>A (p.Phe409Leu)
|
rs1241301935
|
|
NM_002047.4(GARS1):c.1235G>A (p.Arg412His)
|
|
|
NM_002047.4(GARS1):c.1237A>G (p.Ile413Val)
|
|
|
NM_002047.4(GARS1):c.1245C>T (p.Leu415=)
|
rs1584039354
|
|
NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)
|
|
|
NM_002047.4(GARS1):c.1264A>C (p.Ile422Leu)
|
|
|
NM_002047.4(GARS1):c.1282C>T (p.Arg428Cys)
|
rs951085877
|
|
NM_002047.4(GARS1):c.1283G>T (p.Arg428Leu)
|
rs1203971547
|
|
NM_002047.4(GARS1):c.1289G>A (p.Arg430Gln)
|
rs1430190191
|
|
NM_002047.4(GARS1):c.128C>G (p.Pro43Arg)
|
rs570608946
|
|
NM_002047.4(GARS1):c.1291C>A (p.Gln431Lys)
|
rs375133923
|
|
NM_002047.4(GARS1):c.1315C>T (p.His439Tyr)
|
rs1782906838
|
|
NM_002047.4(GARS1):c.131T>G (p.Ile44Ser)
|
rs1791215308
|
|
NM_002047.4(GARS1):c.1337A>T (p.Asp446Val)
|
rs1554338834
|
|
NM_002047.4(GARS1):c.1348A>G (p.Lys450Glu)
|
|
|
NM_002047.4(GARS1):c.1359+17T>G
|
|
|
NM_002047.4(GARS1):c.1359+3A>G
|
|
|
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala)
|
rs924595179
|
|
NM_002047.4(GARS1):c.1381T>C (p.Cys461Arg)
|
|
|
NM_002047.4(GARS1):c.1387G>T (p.Asp463Tyr)
|
rs1554339284
|
|
NM_002047.4(GARS1):c.1391_1407del (p.Arg464fs)
|
rs2128135088
|
|
NM_002047.4(GARS1):c.1396T>C (p.Cys466Arg)
|
rs2128135092
|
|
NM_002047.4(GARS1):c.1397G>T (p.Cys466Phe)
|
rs756498678
|
|
NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)
|
|
|
NM_002047.4(GARS1):c.1407C>G (p.Leu469=)
|
rs2128135093
|
|
NM_002047.4(GARS1):c.1409C>G (p.Ser470Cys)
|
|
|
NM_002047.4(GARS1):c.1411T>A (p.Cys471Ser)
|
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.141C>A (p.Pro47=)
|
|
|
NM_002047.4(GARS1):c.1421G>A (p.Arg474Gln)
|
rs1345590827
|
|
NM_002047.4(GARS1):c.1428C>G (p.Thr476=)
|
|
|
NM_002047.4(GARS1):c.1428C>T (p.Thr476=)
|
rs1212959476
|
|
NM_002047.4(GARS1):c.1433T>A (p.Val478Asp)
|
rs2128135103
|
|
NM_002047.4(GARS1):c.1447G>A (p.Glu483Lys)
|
|
|
NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)
|
|
|
NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)
|
|
|
NM_002047.4(GARS1):c.1467+11T>C
|
|
|
NM_002047.4(GARS1):c.1468-15T>C
|
|
|
NM_002047.4(GARS1):c.1468-20A>T
|
|
|
NM_002047.4(GARS1):c.1468-6T>G
|
rs1584044490
|
|
NM_002047.4(GARS1):c.1490T>G (p.Phe497Cys)
|
|
|
NM_002047.4(GARS1):c.1497C>A (p.Pro499=)
|
rs1783029120
|
|
NM_002047.4(GARS1):c.1499G>C (p.Ser500Thr)
|
|
|
NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)
|
|
|
NM_002047.4(GARS1):c.1518G>A (p.Lys506=)
|
rs1783029490
|
|
NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)
|
|
|
NM_002047.4(GARS1):c.1531G>C (p.Asp511His)
|
|
|
NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)
|
|
|
NM_002047.4(GARS1):c.1551G>A (p.Glu517=)
|
rs2128135204
|
|
NM_002047.4(GARS1):c.1568A>T (p.Asp523Val)
|
rs779225125
|
|
NM_002047.4(GARS1):c.1574G>A (p.Cys525Tyr)
|
rs758225567
|
|
NM_002047.4(GARS1):c.1575C>T (p.Cys525=)
|
|
|
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=)
|
rs371268919
|
|
NM_002047.4(GARS1):c.1581T>A (p.Ile527=)
|
rs960876782
|
|
NM_002047.4(GARS1):c.1592A>C (p.Glu531Ala)
|
rs1783032476
|
|
NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)
|
|
|
NM_002047.4(GARS1):c.1608G>A (p.Glu536=)
|
|
|
NM_002047.4(GARS1):c.1613+10C>A
|
|
|
NM_002047.4(GARS1):c.1613+3A>G
|
|
|
NM_002047.4(GARS1):c.1613+9T>A
|
rs75855065
|
|
NM_002047.4(GARS1):c.1614-13T>A
|
|
|
NM_002047.4(GARS1):c.1614-17_1614-16del
|
|
|
NM_002047.4(GARS1):c.1614-4G>A
|
rs376324026
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002047.4(GARS1):c.1622C>G (p.Thr541Arg)
|
rs745739050
|
|
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)
|
|
|
NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)
|
|
|
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
|
rs1783125064
|
|
NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)
|
|
|
NM_002047.4(GARS1):c.164T>C (p.Met55Thr)
|
|
|
NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu)
|
rs1783125497
|
|
NM_002047.4(GARS1):c.1675A>G (p.Lys559Glu)
|
|
|
NM_002047.4(GARS1):c.1695A>G (p.Leu565=)
|
|
|
NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)
|
|
|
NM_002047.4(GARS1):c.1699+18A>G
|
|
|
NM_002047.4(GARS1):c.1699+23_1699+26del
|
|
|
NM_002047.4(GARS1):c.1699+6T>A
|
rs1362621582
|
|
NM_002047.4(GARS1):c.1700-11C>G
|
|
|
NM_002047.4(GARS1):c.1700-1G>A
|
rs1584051498
|
|
NM_002047.4(GARS1):c.1700-6T>C
|
|
|
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys)
|
rs1060502839
|
|
NM_002047.4(GARS1):c.1719T>C (p.Asn573=)
|
|
|
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys)
|
rs1242186885
|
|
NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)
|
|
|
NM_002047.4(GARS1):c.1734C>T (p.Ser578=)
|
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.1743G>A (p.Leu581=)
|
|
|
NM_002047.4(GARS1):c.1744_1745delinsAA (p.Gly582Asn)
|
|
|
NM_002047.4(GARS1):c.1745G>A (p.Gly582Asp)
|
rs2128135873
|
|
NM_002047.4(GARS1):c.1746T>C (p.Gly582=)
|
rs1783174238
|
|
NM_002047.4(GARS1):c.1764A>T (p.Val588=)
|
rs1359108145
|
|
NM_002047.4(GARS1):c.1785A>G (p.Val595=)
|
|
|
NM_002047.4(GARS1):c.1786C>T (p.Arg596Ter)
|
|
|
NM_002047.4(GARS1):c.1790_1792del (p.Glu597del)
|
rs879254345
|
|
NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)
|
|
|
NM_002047.4(GARS1):c.1805G>A (p.Arg602Lys)
|
|
|
NM_002047.4(GARS1):c.1806A>G (p.Arg602=)
|
rs1314425578
|
|
NM_002047.4(GARS1):c.1809+10_1809+12del
|
rs747338292
|
|
NM_002047.4(GARS1):c.1809+12T>A
|
|
|
NM_002047.4(GARS1):c.1809+1G>A
|
rs1554340340
|
|
NM_002047.4(GARS1):c.1809+20G>A
|
|
|
NM_002047.4(GARS1):c.1809+8G>A
|
rs766137918
|
|
NM_002047.4(GARS1):c.1810-12T>A
|
|
|
NM_002047.4(GARS1):c.1810-2A>T
|
|
|
NM_002047.4(GARS1):c.1810-4C>T
|
|
|
NM_002047.4(GARS1):c.1817G>C (p.Ser606Thr)
|
|
|
NM_002047.4(GARS1):c.1827T>C (p.Ala609=)
|
rs2128136202
|
|
NM_002047.4(GARS1):c.1850C>A (p.Ser617Tyr)
|
rs765235116
|
|
NM_002047.4(GARS1):c.1851C>T (p.Ser617=)
|
rs377159922
|
|
NM_002047.4(GARS1):c.1885C>G (p.Pro629Ala)
|
|
|
NM_002047.4(GARS1):c.1893C>G (p.Val631=)
|
|
|
NM_002047.4(GARS1):c.189G>C (p.Val63=)
|
|
|
NM_002047.4(GARS1):c.18A>G (p.Pro6=)
|
rs1584016961
|
|
NM_002047.4(GARS1):c.1902A>G (p.Leu634=)
|
rs2128136213
|
|
NM_002047.4(GARS1):c.1903+14A>G
|
|
|
NM_002047.4(GARS1):c.1903+15T>C
|
|
|
NM_002047.4(GARS1):c.1903+16T>A
|
|
|
NM_002047.4(GARS1):c.1903+16T>G
|
|
|
NM_002047.4(GARS1):c.1903+18G>A
|
rs2128136216
|
|
NM_002047.4(GARS1):c.1904-11A>G
|
|
|
NM_002047.4(GARS1):c.1904-19C>T
|
rs1204535363
|
|
NM_002047.4(GARS1):c.190_192dup (p.Leu64dup)
|
rs1562769487
|
|
NM_002047.4(GARS1):c.1914G>A (p.Leu638=)
|
|
|
NM_002047.4(GARS1):c.1927G>A (p.Val643Ile)
|
rs1554340789
|
|
NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)
|
|
|
NM_002047.4(GARS1):c.1944C>T (p.Asp648=)
|
|
|
NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)
|
|
|
NM_002047.4(GARS1):c.194C>T (p.Ala65Val)
|
rs1179352387
|
|
NM_002047.4(GARS1):c.1956G>T (p.Gly652=)
|
rs1783251236
|
|
NM_002047.4(GARS1):c.1970G>A (p.Arg657His)
|
|
|
NM_002047.4(GARS1):c.1977C>T (p.Ala659=)
|
rs746028145
|
|
NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)
|
|
|
NM_002047.4(GARS1):c.1981A>G (p.Thr661Ala)
|
rs1783252231
|
|
NM_002047.4(GARS1):c.1992T>A (p.Ile664=)
|
rs1584055669
|
|
NM_002047.4(GARS1):c.1995C>T (p.Gly665=)
|
|
|
NM_002047.4(GARS1):c.1A>T (p.Met1Leu)
|
rs1345458433
|
|
NM_002047.4(GARS1):c.2005G>A (p.Gly669Ser)
|
|
|
NM_002047.4(GARS1):c.2010C>T (p.Val670=)
|
|
|
NM_002047.4(GARS1):c.2014A>G (p.Ile672Val)
|
rs1562784262
|
|
NM_002047.4(GARS1):c.2015T>C (p.Ile672Thr)
|
rs1554340824
|
|
NM_002047.4(GARS1):c.2029G>C (p.Val677Leu)
|
rs2128136305
|
|
NM_002047.4(GARS1):c.2037del (p.Thr680fs)
|
|
|
NM_002047.4(GARS1):c.2047A>G (p.Thr683Ala)
|
|
|
NM_002047.4(GARS1):c.2049T>C (p.Thr683=)
|
|
|
NM_002047.4(GARS1):c.2055T>C (p.Thr685=)
|
|
|
NM_002047.4(GARS1):c.2062G>C (p.Asp688His)
|
|
|
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys)
|
rs376308368
|
|
NM_002047.4(GARS1):c.2073_2074del (p.Met692fs)
|
|
|
NM_002047.4(GARS1):c.2094+12T>C
|
|
|
NM_002047.4(GARS1):c.2094+18T>G
|
|
|
NM_002047.4(GARS1):c.2095-16C>T
|
|
|
NM_002047.4(GARS1):c.2110A>G (p.Ser704Gly)
|
|
|
NM_002047.4(GARS1):c.2121A>C (p.Gln707His)
|
rs1554340999
|
|
NM_002047.4(GARS1):c.212T>C (p.Val71Ala)
|
|
|
NM_002047.4(GARS1):c.2159A>T (p.Glu720Val)
|
|
|
NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)
|
|
|
NM_002047.4(GARS1):c.216C>T (p.Arg72=)
|
|
|
NM_002047.4(GARS1):c.2182G>A (p.Gly728Arg)
|
rs1422434626
|
|
NM_002047.4(GARS1):c.2187A>G (p.Gln729=)
|
|
|
NM_002047.4(GARS1):c.2188G>C (p.Glu730Gln)
|
rs1783283131
|
|
NM_002047.4(GARS1):c.218A>T (p.Gln73Leu)
|
|
|
NM_002047.4(GARS1):c.2193T>A (p.Thr731=)
|
|
|
NM_002047.4(GARS1):c.2198A>T (p.Lys733Ile)
|
|
|
NM_002047.4(GARS1):c.2206A>G (p.Thr736Ala)
|
rs1785775131
|
|
NM_002047.4(GARS1):c.2209A>G (p.Ile737Val)
|
|
|
NM_002047.4(GARS1):c.2218T>A (p.Ter740Arg)
|
|
|
NM_002047.4(GARS1):c.2219G>A (p.Ter740=)
|
|
|
NM_002047.4(GARS1):c.222+17C>A
|
|
|
NM_002047.4(GARS1):c.222+6G>A
|
|
|
NM_002047.4(GARS1):c.2220A>C (p.Ter740Cys)
|
rs1783284502
|
|
NM_002047.4(GARS1):c.223-5G>A
|
|
|
NM_002047.4(GARS1):c.223-5G>T
|
|
|
NM_002047.4(GARS1):c.250G>A (p.Asp84Asn)
|
rs2128132417
|
|
NM_002047.4(GARS1):c.261C>T (p.Pro87=)
|
|
|
NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)
|
|
|
NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)
|
|
|
NM_002047.4(GARS1):c.309G>C (p.Arg103Ser)
|
rs768571328
|
|
NM_002047.4(GARS1):c.311T>C (p.Val104Ala)
|
|
|
NM_002047.4(GARS1):c.313C>G (p.Leu105Val)
|
rs1791317535
|
|
NM_002047.4(GARS1):c.315G>A (p.Leu105=)
|
rs2128132436
|
|
NM_002047.4(GARS1):c.324+19A>C
|
rs1249363035
|
|
NM_002047.4(GARS1):c.324G>A (p.Lys108=)
|
|
|
NM_002047.4(GARS1):c.325-2A>G
|
|
|
NM_002047.4(GARS1):c.325-9C>A
|
rs770645408
|
|
NM_002047.4(GARS1):c.325G>A (p.Glu109Lys)
|
rs1036198120
|
|
NM_002047.4(GARS1):c.344A>G (p.Lys115Arg)
|
rs1554336991
|
|
NM_002047.4(GARS1):c.348T>G (p.Asp116Glu)
|
rs2128132552
|
|
NM_002047.4(GARS1):c.353T>C (p.Ile118Thr)
|
rs1791340048
|
|
NM_002047.4(GARS1):c.373G>C (p.Glu125Gln)
|
rs797044855
|
|
NM_002047.4(GARS1):c.375A>G (p.Glu125=)
|
|
|
NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)
|
|
|
NM_002047.4(GARS1):c.377A>T (p.Asp126Val)
|
rs766540026
|
|
NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro)
|
rs1554336495
|
|
NM_002047.4(GARS1):c.406C>A (p.Gln136Lys)
|
rs2128132565
|
|
NM_002047.4(GARS1):c.418A>C (p.Ile140Leu)
|
rs888805042
|
|
NM_002047.4(GARS1):c.418A>G (p.Ile140Val)
|
|
|
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser)
|
rs1584022929
|
|
NM_002047.4(GARS1):c.428-9A>G
|
|
|
NM_002047.4(GARS1):c.435T>C (p.Ser145=)
|
rs2128132709
|
|
NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)
|
|
|
NM_002047.4(GARS1):c.446A>G (p.Asp149Gly)
|
rs1791365947
|
|
NM_002047.4(GARS1):c.450T>A (p.Phe150Leu)
|
rs751505742
|
|
NM_002047.4(GARS1):c.45T>G (p.Ala15=)
|
|
|
NM_002047.4(GARS1):c.463T>A (p.Cys155Ser)
|
|
|
NM_002047.4(GARS1):c.474G>A (p.Lys158=)
|
|
|
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del)
|
rs150213018
|
|
NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)
|
rs150213018
|
|
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup)
|
rs150213018
|
|
NM_002047.4(GARS1):c.48G>A (p.Leu16=)
|
|
|
NM_002047.4(GARS1):c.516_517delinsTA (p.Glu172_Glu173delinsAspLys)
|
rs2128132720
|
|
NM_002047.4(GARS1):c.532A>G (p.Ile178Val)
|
rs1791369066
|
|
NM_002047.4(GARS1):c.534C>G (p.Ile178Met)
|
rs774732829
|
|
NM_002047.4(GARS1):c.535G>A (p.Asp179Asn)
|
|
|
NM_002047.4(GARS1):c.537T>C (p.Asp179=)
|
rs772899197
|
|
NM_002047.4(GARS1):c.542C>T (p.Thr181Ile)
|
rs1425456318
|
|
NM_002047.4(GARS1):c.569+12C>T
|
|
|
NM_002047.4(GARS1):c.569+20T>G
|
rs2128132727
|
|
NM_002047.4(GARS1):c.570-8T>G
|
|
|
NM_002047.4(GARS1):c.575C>G (p.Ser192Cys)
|
|
|
NM_002047.4(GARS1):c.578G>A (p.Gly193Asp)
|
rs1791411808
|
|
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)
|
|
|
NM_002047.4(GARS1):c.614A>T (p.Asp205Val)
|
rs2128132956
|
|
NM_002047.4(GARS1):c.614_615delinsTA (p.Asp205Val)
|
rs2128132958
|
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136
|
|
NM_002047.4(GARS1):c.628G>T (p.Glu210Ter)
|
rs1791412752
|
|
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
|
rs1301948344
|
|
NM_002047.4(GARS1):c.633T>C (p.Cys211=)
|
|
|
NM_002047.4(GARS1):c.638G>A (p.Arg213His)
|
rs780116880
|
|
NM_002047.4(GARS1):c.641C>A (p.Ala214Asp)
|
|
|
NM_002047.4(GARS1):c.642T>C (p.Ala214=)
|
|
|
NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)
|
|
|
NM_002047.4(GARS1):c.658+13A>T
|
|
|
NM_002047.4(GARS1):c.658+18C>T
|
|
|
NM_002047.4(GARS1):c.658+20T>C
|
|
|
NM_002047.4(GARS1):c.659-14C>G
|
|
|
NM_002047.4(GARS1):c.659-3del
|
rs1791421299
|
|
NM_002047.4(GARS1):c.659C>A (p.Ala220Asp)
|
|
|
NM_002047.4(GARS1):c.683A>C (p.Asp228Ala)
|
rs1791422443
|
|
NM_002047.4(GARS1):c.685AAG[1] (p.Lys230del)
|
|
|
NM_002047.4(GARS1):c.689A>G (p.Lys230Arg)
|
|
|
NM_002047.4(GARS1):c.691T>G (p.Cys231Gly)
|
rs1584026626
|
|
NM_002047.4(GARS1):c.694del (p.Ser232fs)
|
rs1791422813
|
|
NM_002047.4(GARS1):c.695C>T (p.Ser232Phe)
|
|
|
NM_002047.4(GARS1):c.69G>T (p.Arg23=)
|
rs762624758
|
|
NM_002047.4(GARS1):c.6C>T (p.Pro2=)
|
rs746437033
|
|
NM_002047.4(GARS1):c.701A>G (p.Glu234Gly)
|
|
|
NM_002047.4(GARS1):c.705G>T (p.Lys235Asn)
|
rs759012168
|
|
NM_002047.4(GARS1):c.710C>A (p.Ser237Ter)
|
rs2128133017
|
|
NM_002047.4(GARS1):c.711A>G (p.Ser237=)
|
rs1584026695
|
|
NM_002047.4(GARS1):c.719A>C (p.Glu240Ala)
|
rs1791423440
|
|
NM_002047.4(GARS1):c.719A>T (p.Glu240Val)
|
rs1791423440
|
|
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn)
|
rs775140242
|
|
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr)
|
rs775140242
|
|
NM_002047.4(GARS1):c.72C>T (p.Leu24=)
|
rs768665866
|
|
NM_002047.4(GARS1):c.735+12A>G
|
|
|
NM_002047.4(GARS1):c.735+14A>G
|
|
|
NM_002047.4(GARS1):c.736-13A>G
|
|
|
NM_002047.4(GARS1):c.736-13A>T
|
|
|
NM_002047.4(GARS1):c.736-17C>T
|
|
|
NM_002047.4(GARS1):c.736-9G>A
|
|
|
NM_002047.4(GARS1):c.750A>C (p.Gly250=)
|
|
|
NM_002047.4(GARS1):c.750A>G (p.Gly250=)
|
rs766799218
|
|
NM_002047.4(GARS1):c.751C>G (p.Gln251Glu)
|
|
|
NM_002047.4(GARS1):c.759A>G (p.Glu253=)
|
rs1554337956
|
|
NM_002047.4(GARS1):c.764C>A (p.Ala255Glu)
|
rs765478968
|
|
NM_002047.4(GARS1):c.770T>A (p.Leu257His)
|
|
|
NM_002047.4(GARS1):c.780C>T (p.Asn260=)
|
rs2128133721
|
|
NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)
|
|
|
NM_002047.4(GARS1):c.790_792del (p.Lys264del)
|
rs1791556326
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002047.4(GARS1):c.801T>G (p.Ile267Met)
|
|
|
NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)
|
|
|
NM_002047.4(GARS1):c.818C>T (p.Ser273Phe)
|
rs1554337983
|
|
NM_002047.4(GARS1):c.835A>G (p.Asn279Asp)
|
|
|
NM_002047.4(GARS1):c.837C>A (p.Asn279Lys)
|
|
|
NM_002047.4(GARS1):c.837C>T (p.Asn279=)
|
rs1029686290
|
|
NM_002047.4(GARS1):c.838T>C (p.Leu280=)
|
|
|
NM_002047.4(GARS1):c.842T>A (p.Met281Lys)
|
rs1791558334
|
|
NM_002047.4(GARS1):c.855C>T (p.Phe285=)
|
rs786204099
|
|
NM_002047.4(GARS1):c.857T>C (p.Ile286Thr)
|
|
|
NM_002047.4(GARS1):c.861G>T (p.Gly287=)
|
|
|
NM_002047.4(GARS1):c.873C>T (p.Asn291=)
|
|
|
NM_002047.4(GARS1):c.875T>G (p.Met292Arg)
|
rs1064795123
|
|
NM_002047.4(GARS1):c.878C>T (p.Pro293Leu)
|
|
|
NM_002047.4(GARS1):c.87G>T (p.Ser29=)
|
rs772356008
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643
|
|
NM_002047.4(GARS1):c.881+17G>A
|
rs1791560409
|
|
NM_002047.4(GARS1):c.882-16T>G
|
|
|
NM_002047.4(GARS1):c.883T>A (p.Tyr295Asn)
|
rs1782769087
|
|
NM_002047.4(GARS1):c.884dup (p.Tyr295Ter)
|
|
|
NM_002047.4(GARS1):c.885C>T (p.Tyr295=)
|
|
|
NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)
|
|
|
NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr)
|
rs1184401493
|
|
NM_002047.4(GARS1):c.900T>C (p.Thr300=)
|
|
|
NM_002047.4(GARS1):c.909G>C (p.Gly303=)
|
|
|
NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)
|
|
|
NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)
|
|
|
NM_002047.4(GARS1):c.953A>T (p.Lys318Met)
|
rs2128134017
|
|
NM_002047.4(GARS1):c.968C>T (p.Ala323Val)
|
rs2128134021
|
|
NM_002047.4(GARS1):c.969T>G (p.Ala323=)
|
|
|
NM_002047.4(GARS1):c.972C>A (p.Ala324=)
|
|
|
NM_002047.4(GARS1):c.972C>T (p.Ala324=)
|
rs764305863
|
|
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)
|
rs1584034430
|
|
NM_002047.4(GARS1):c.979G>C (p.Gly327Arg)
|
rs1584034430
|
|
NM_002047.4(GARS1):c.982A>G (p.Asn328Asp)
|
|
|
NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)
|
|
|
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
|
|
|
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys)
|
rs1594431740
|
|
NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=)
|
|
|
NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=)
|
|
|
NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=)
|
|
|
NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=)
|
|
|
NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=)
|
|
|
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu)
|
rs199586231
|
|
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del)
|
rs1858730437
|
|
NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=)
|
|
|
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg)
|
rs1368446033
|
|
NM_002180.3(IGHMBP2):c.1060+18T>A
|
|
|
NM_002180.3(IGHMBP2):c.1060+1G>T
|
rs1366461184
|
|
NM_002180.3(IGHMBP2):c.1060+7G>A
|
|
|
NM_002180.3(IGHMBP2):c.1060+8G>C
|
|
|
NM_002180.3(IGHMBP2):c.1060+9G>A
|
|
|
NM_002180.3(IGHMBP2):c.1061-16T>C
|
|
|
NM_002180.3(IGHMBP2):c.1061-20C>A
|
|
|
NM_002180.3(IGHMBP2):c.1061-20C>T
|
|
|
NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=)
|
|
|
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe)
|
rs2154008237
|
|
NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=)
|
|
|
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg)
|
rs1768499175
|
|
NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=)
|
|
|
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
|
|
|
NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=)
|
|
|
NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=)
|
rs2154006530
|
|
NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=)
|
|
|
NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=)
|
|
|
NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=)
|
|
|
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe)
|
rs2154008241
|
|
NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=)
|
|
|
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)
|
rs1178427226
|
|
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg)
|
rs2154008248
|
|
NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=)
|
rs145314949
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
|
|
|
NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=)
|
|
|
NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=)
|
|
|
NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=)
|
|
|
NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=)
|
|
|
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg)
|
rs1555246489
|
|
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
|
|
|
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
|
|
|
NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=)
|
|
|
NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=)
|
|
|
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs)
|
rs1594445698
|
|
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)
|
rs137852668
|
|
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)
|
rs1332319177
|
|
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
|
rs780692442
|
|
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
|
|
|
NM_002180.3(IGHMBP2):c.1235+10del
|
rs747881237
|
|
NM_002180.3(IGHMBP2):c.1235+13T>C
|
|
|
NM_002180.3(IGHMBP2):c.1235+17_1235+25del
|
|
|
NM_002180.3(IGHMBP2):c.1235+18_1235+27del
|
|
|
NM_002180.3(IGHMBP2):c.1235+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1235+20_1235+21del
|
|
|
NM_002180.3(IGHMBP2):c.1235+894C>A
|
rs1202430946
|
|
NM_002180.3(IGHMBP2):c.1235+894C>G
|
|
|
NM_002180.3(IGHMBP2):c.1235+894C>T
|
|
|
NM_002180.3(IGHMBP2):c.1236-17C>T
|
|
|
NM_002180.3(IGHMBP2):c.1236-19T>A
|
|
|
NM_002180.3(IGHMBP2):c.1236-1G>T
|
rs1124336
|
|
NM_002180.3(IGHMBP2):c.1236-4G>T
|
|
|
NM_002180.3(IGHMBP2):c.1236-6G>C
|
rs201538340
|
|
NM_002180.3(IGHMBP2):c.1236-6G>T
|
|
|
NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=)
|
|
|
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
|
|
|
NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=)
|
|
|
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=)
|
|
|
NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=)
|
rs1345673085
|
|
NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=)
|
|
|
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro)
|
rs1594451196
|
|
NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=)
|
|
|
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
|
|
|
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
|
rs1859389487
|
|
NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=)
|
|
|
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly)
|
rs1464006744
|
|
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs)
|
rs777570288
|
|
NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=)
|
|
|
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His)
|
rs2154008602
|
|
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
|
|
|
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)
|
rs372181708
|
|
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)
|
rs1594415353
|
|
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
|
|
|
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
|
rs1859394402
|
|
NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=)
|
|
|
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro)
|
rs775232759
|
|
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
|
|
|
NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=)
|
|
|
NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=)
|
|
|
NM_002180.3(IGHMBP2):c.1392C>T (p.His464=)
|
|
|
NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=)
|
rs1594451498
|
|
NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=)
|
|
|
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=)
|
rs147477786
|
|
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
|
|
|
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met)
|
rs755120725
|
|
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=)
|
rs1484199036
|
|
NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=)
|
|
|
NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=)
|
|
|
NM_002180.3(IGHMBP2):c.1418+13G>T
|
|
|
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
|
|
|
NM_002180.3(IGHMBP2):c.1418+5G>A
|
|
|
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys)
|
rs1594451539
|
|
NM_002180.3(IGHMBP2):c.1419-10T>C
|
|
|
NM_002180.3(IGHMBP2):c.1419-17C>T
|
|
|
NM_002180.3(IGHMBP2):c.1419-8T>C
|
|
|
NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=)
|
|
|
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met)
|
rs2154008642
|
|
NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=)
|
|
|
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=)
|
|
|
NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=)
|
|
|
NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=)
|
|
|
NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=)
|
|
|
NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=)
|
|
|
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
|
|
|
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala)
|
rs2154008651
|
|
NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=)
|
rs370367228
|
|
NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=)
|
rs145226920
|
|
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
|
rs764111837
|
|
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp)
|
rs764111837
|
|
NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=)
|
|
|
NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=)
|
|
|
NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)
|
|
|
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)
|
rs556292818
|
|
NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=)
|
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1524G>T (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
|
rs1049595127
|
|
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
|
rs772984773
|
|
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
|
rs1859418981
|
|
NM_002180.3(IGHMBP2):c.1537+10C>T
|
|
|
NM_002180.3(IGHMBP2):c.1537+13G>A
|
|
|
NM_002180.3(IGHMBP2):c.1537+18T>C
|
|
|
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
|
rs1566444289
|
|
NM_002180.3(IGHMBP2):c.1538-20C>G
|
|
|
NM_002180.3(IGHMBP2):c.1538-20C>T
|
rs147148090
|
|
NM_002180.3(IGHMBP2):c.1538-4C>T
|
rs757915735
|
|
NM_002180.3(IGHMBP2):c.1538-5T>G
|
|
|
NM_002180.3(IGHMBP2):c.1538-7C>A
|
|
|
NM_002180.3(IGHMBP2):c.1538-9T>A
|
|
|
NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=)
|
rs746624957
|
|
NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=)
|
rs746624957
|
|
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile)
|
rs926718557
|
|
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu)
|
rs926718557
|
|
NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg)
|
rs1555247556
|
|
NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val)
|
rs1859447330
|
|
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg)
|
rs1594452962
|
|
NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)
|
|
|
NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=)
|
rs1461885178
|
|
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
|
rs1178878248
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=)
|
|
|
NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)
|
|
|
NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)
|
rs1594453111
|
|
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)
|
rs879253887
|
|
NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=)
|
|
|
NM_002180.3(IGHMBP2):c.1632+12T>C
|
|
|
NM_002180.3(IGHMBP2):c.1632+13C>T
|
|
|
NM_002180.3(IGHMBP2):c.1632+15T>A
|
|
|
NM_002180.3(IGHMBP2):c.1632+16T>G
|
|
|
NM_002180.3(IGHMBP2):c.1632+19G>A
|
|
|
NM_002180.3(IGHMBP2):c.1632+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1632+7G>A
|
|
|
NM_002180.3(IGHMBP2):c.1632+8G>A
|
|
|
NM_002180.3(IGHMBP2):c.1633-12C>G
|
|
|
NM_002180.3(IGHMBP2):c.1633-15C>T
|
|
|
NM_002180.3(IGHMBP2):c.1633-2A>G
|
rs1566445029
|
|
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
|
rs1859480727
|
|
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala)
|
rs1566445036
|
|
NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=)
|
|
|
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys)
|
rs2154008764
|
|
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser)
|
rs201649839
|
|
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
|
|
|
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
|
|
|
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)
|
rs1555247732
|
|
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu)
|
rs1566445093
|
|
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)
|
rs2154006537
|
|
NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=)
|
|
|
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
|
rs1859483901
|
|
NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=)
|
rs2154008770
|
|
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
|
rs1311146809
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=)
|
|
|
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly)
|
rs1566445153
|
|
NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=)
|
|
|
NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)
|
|
|
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=)
|
|
|
NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=)
|
|
|
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys)
|
rs1566445212
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala)
|
rs2154006539
|
|
NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=)
|
|
|
NM_002180.3(IGHMBP2):c.1756+7A>G
|
|
|
NM_002180.3(IGHMBP2):c.1757-13T>C
|
|
|
NM_002180.3(IGHMBP2):c.1757-17C>T
|
|
|
NM_002180.3(IGHMBP2):c.1757-19C>T
|
|
|
NM_002180.3(IGHMBP2):c.1757-4G>A
|
|
|
NM_002180.3(IGHMBP2):c.1757-9C>T
|
|
|
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile)
|
rs1566445855
|
|
NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=)
|
|
|
NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=)
|
rs776499527
|
|
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
|
rs777841793
|
|
NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=)
|
|
|
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)
|
|
|
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile)
|
rs779182888
|
|
NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=)
|
|
|
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)
|
rs1240319744
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met)
|
rs573382473
|
|
NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=)
|
|
|
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
|
|
|
NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=)
|
rs1164401206
|
|
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=)
|
|
|
NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=)
|
|
|
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
|
|
|
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
|
|
|
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
|
|
|
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg)
|
rs1594455594
|
|
NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=)
|
|
|
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
|
|
|
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
|
|
|
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=)
|
rs1555247971
|
|
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
|
rs1413846126
|
|
NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=)
|
rs1555247978
|
|
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
|
|
|
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro)
|
rs1859530717
|
|
NM_002180.3(IGHMBP2):c.195C>T (p.Val65=)
|
|
|
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
|
rs753926352
|
|
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
|
|
|
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=)
|
rs1859531837
|
|
NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=)
|
|
|
NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=)
|
|
|
NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=)
|
|
|
NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=)
|
rs1308205831
|
|
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg)
|
rs377743886
|
|
NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=)
|
|
|
NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=)
|
|
|
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp)
|
rs1859535346
|
|
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
|
rs1859535801
|
|
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr)
|
rs1859535898
|
|
NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp)
|
rs2154008864
|
|
NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=)
|
|
|
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr)
|
rs746334377
|
|
NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=)
|
|
|
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=)
|
rs1342765347
|
|
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu)
|
rs1594456094
|
|
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg)
|
rs879254320
|
|
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=)
|
rs774145467
|
|
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
|
rs755468547
|
|
NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=)
|
|
|
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu)
|
rs536678728
|
|
NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=)
|
|
|
NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=)
|
|
|
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp)
|
rs1594456265
|
|
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val)
|
rs1042285874
|
|
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg)
|
rs1859546493
|
|
NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=)
|
|
|
NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=)
|
|
|
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=)
|
|
|
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=)
|
|
|
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=)
|
|
|
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=)
|
|
|
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro)
|
rs778774954
|
|
NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=)
|
|
|
NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=)
|
|
|
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
|
|
|
NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=)
|
|
|
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
|
rs750994603
|
|
NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=)
|
|
|
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr)
|
rs766802836
|
|
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
|
rs760161861
|
|
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala)
|
rs1438075631
|
|
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=)
|
rs757779436
|
|
NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=)
|
|
|
NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=)
|
|
|
NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=)
|
|
|
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser)
|
rs1464851091
|
|
NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=)
|
rs1165471451
|
|
NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=)
|
|
|
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
|
rs1189538200
|
|
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)
|
rs1249076926
|
|
NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=)
|
rs915018099
|
|
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu)
|
rs779854653
|
|
NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=)
|
|
|
NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=)
|
|
|
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln)
|
rs950453484
|
|
NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=)
|
rs1005880496
|
|
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)
|
|
|
NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=)
|
|
|
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=)
|
rs1241285720
|
|
NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=)
|
|
|
NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=)
|
rs756948501
|
|
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala)
|
rs2154006546
|
|
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg)
|
rs755843076
|
|
NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=)
|
|
|
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=)
|
|
|
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
|
|
|
NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=)
|
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=)
|
rs746248057
|
|
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
|
|
|
NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=)
|
rs764637193
|
|
NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=)
|
|
|
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
|
|
|
NM_002180.3(IGHMBP2):c.256+14G>A
|
|
|
NM_002180.3(IGHMBP2):c.256+17C>T
|
|
|
NM_002180.3(IGHMBP2):c.256+20G>A
|
|
|
NM_002180.3(IGHMBP2):c.256+7del
|
|
|
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)
|
rs750024353
|
|
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
|
|
|
NM_002180.3(IGHMBP2):c.257-10G>C
|
|
|
NM_002180.3(IGHMBP2):c.257-11T>C
|
|
|
NM_002180.3(IGHMBP2):c.257-11T>G
|
|
|
NM_002180.3(IGHMBP2):c.257-17A>C
|
|
|
NM_002180.3(IGHMBP2):c.257-2A>G
|
rs1566424655
|
|
NM_002180.3(IGHMBP2):c.257-4G>A
|
rs1484354967
|
|
NM_002180.3(IGHMBP2):c.257-5T>C
|
rs2154006685
|
|
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)
|
rs1373247548
|
|
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp)
|
rs1594417834
|
|
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn)
|
rs766051417
|
|
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)
|
rs886043774
|
|
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)
|
rs754422011
|
|
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu)
|
rs753639706
|
|
NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=)
|
|
|
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
|
|
|
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup)
|
rs2154008959
|
|
NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=)
|
|
|
NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=)
|
|
|
NM_002180.3(IGHMBP2):c.2611+12A>G
|
rs2154008964
|
|
NM_002180.3(IGHMBP2):c.2611+14dup
|
|
|
NM_002180.3(IGHMBP2):c.2611+17G>C
|
|
|
NM_002180.3(IGHMBP2):c.2611+17_2611+19del
|
|
|
NM_002180.3(IGHMBP2):c.2611+1G>A
|
rs786205090
|
|
NM_002180.3(IGHMBP2):c.2611+20C>T
|
|
|
NM_002180.3(IGHMBP2):c.2611+7C>T
|
rs1343219004
|
|
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg)
|
rs1859576991
|
|
NM_002180.3(IGHMBP2):c.2612-10T>C
|
rs2154009107
|
|
NM_002180.3(IGHMBP2):c.2612-11G>A
|
|
|
NM_002180.3(IGHMBP2):c.2612-15dup
|
|
|
NM_002180.3(IGHMBP2):c.2612-20G>A
|
|
|
NM_002180.3(IGHMBP2):c.2612-4C>T
|
rs1859624339
|
|
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala)
|
rs914944175
|
|
NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=)
|
|
|
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met)
|
rs17612126
|
|
NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=)
|
|
|
NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=)
|
|
|
NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=)
|
|
|
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr)
|
rs1386297763
|
|
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg)
|
rs1064796817
|
|
NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=)
|
|
|
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
|
|
|
NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=)
|
|
|
NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=)
|
|
|
NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=)
|
|
|
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser)
|
rs145945230
|
|
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
|
rs145945230
|
|
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His)
|
rs148605058
|
|
NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=)
|
|
|
NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=)
|
|
|
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro)
|
rs1566448570
|
|
NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=)
|
|
|
NM_002180.3(IGHMBP2):c.2784+15C>A
|
|
|
NM_002180.3(IGHMBP2):c.2784+7C>G
|
|
|
NM_002180.3(IGHMBP2):c.2784+8G>A
|
|
|
NM_002180.3(IGHMBP2):c.2785-13G>C
|
|
|
NM_002180.3(IGHMBP2):c.2785-13G>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-14T>G
|
|
|
NM_002180.3(IGHMBP2):c.2785-19A>G
|
|
|
NM_002180.3(IGHMBP2):c.2785-3C>G
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-3C>T
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-4C>G
|
|
|
NM_002180.3(IGHMBP2):c.2785-4C>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-6C>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
|
|
|
NM_002180.3(IGHMBP2):c.2785-8C>T
|
|
|
NM_002180.3(IGHMBP2):c.2785-9C>T
|
|
|
NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=)
|
|
|
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg)
|
rs1594459783
|
|
NM_002180.3(IGHMBP2):c.2790T>C (p.His930=)
|
|
|
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs)
|
rs2154009273
|
|
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
|
|
|
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
|
|
|
NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=)
|
|
|
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg)
|
rs751847212
|
|
NM_002180.3(IGHMBP2):c.2817T>C (p.His939=)
|
|
|
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr)
|
rs757839224
|
|
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=)
|
rs557641477
|
|
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
|
rs1859672618
|
|
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
|
|
|
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
|
|
|
NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=)
|
|
|
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
|
|
|
NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=)
|
rs759627672
|
|
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys)
|
rs775514650
|
|
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val)
|
rs1859674357
|
|
NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=)
|
|
|
NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=)
|
|
|
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn)
|
rs2154009288
|
|
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg)
|
rs764208218
|
|
NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=)
|
|
|
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=)
|
rs752024072
|
|
NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg)
|
rs572019890
|
|
NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=)
|
|
|
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
|
|
|
NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=)
|
|
|
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=)
|
rs2154009296
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=)
|
|
|
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
|
rs1858277137
|
|
NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=)
|
|
|
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys)
|
rs865849237
|
|
NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=)
|
|
|
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser)
|
rs2154009308
|
|
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp)
|
rs1440519538
|
|
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
|
|
|
NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=)
|
|
|
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
|
rs886048608
|
|
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro)
|
rs1271968797
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=)
|
rs1281690554
|
|
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
|
rs1858278685
|
|
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
|
|
|
NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=)
|
|
|
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser)
|
rs767244307
|
|
NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=)
|
rs2154006693
|
|
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His)
|
rs1858279805
|
|
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His)
|
rs1858279805
|
|
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr)
|
rs1858281719
|
|
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
|
|
|
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn)
|
rs1004055119
|
|
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His)
|
rs1004055119
|
|
NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=)
|
|
|
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)
|
rs1015531394
|
|
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
|
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)
|
|
|
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)
|
|
|
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
|
|
|
NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=)
|
|
|
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=)
|
rs1594418098
|
|
NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=)
|
|
|
NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=)
|
|
|
NM_002180.3(IGHMBP2):c.449+13G>A
|
|
|
NM_002180.3(IGHMBP2):c.449+17G>A
|
|
|
NM_002180.3(IGHMBP2):c.449+1G>A
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.449+1G>T
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.449+2T>A
|
|
|
NM_002180.3(IGHMBP2):c.449+2del
|
|
|
NM_002180.3(IGHMBP2):c.449+8G>C
|
|
|
NM_002180.3(IGHMBP2):c.450-17G>C
|
|
|
NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=)
|
|
|
NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=)
|
|
|
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro)
|
rs1594418365
|
|
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs)
|
rs2154006724
|
|
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
|
|
|
NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=)
|
|
|
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
|
rs1858294631
|
|
NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=)
|
|
|
NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=)
|
|
|
NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=)
|
rs1858295479
|
|
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
|
|
|
NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=)
|
|
|
NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=)
|
|
|
NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=)
|
|
|
NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=)
|
|
|
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
|
|
|
NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=)
|
rs779086573
|
|
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala)
|
rs1566425176
|
|
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser)
|
rs1566425176
|
|
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
|
|
|
NM_002180.3(IGHMBP2):c.547+11C>T
|
|
|
NM_002180.3(IGHMBP2):c.547+15G>A
|
|
|
NM_002180.3(IGHMBP2):c.547+19T>C
|
|
|
NM_002180.3(IGHMBP2):c.547+20C>G
|
|
|
NM_002180.3(IGHMBP2):c.547+20C>T
|
|
|
NM_002180.3(IGHMBP2):c.548-12C>T
|
rs1858429648
|
|
NM_002180.3(IGHMBP2):c.548-13G>A
|
|
|
NM_002180.3(IGHMBP2):c.548-9C>T
|
|
|
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
|
|
|
NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=)
|
rs755103682
|
|
NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=)
|
|
|
NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=)
|
|
|
NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=)
|
|
|
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
|
|
|
NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=)
|
|
|
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
|
rs1280728139
|
|
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile)
|
rs369509318
|
|
NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=)
|
|
|
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
|
|
|
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
|
|
|
NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=)
|
|
|
NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=)
|
|
|
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
|
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala)
|
rs1566427330
|
|
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg)
|
rs752135303
|
|
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr)
|
rs771853806
|
|
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
|
|
|
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg)
|
rs1555243301
|
|
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn)
|
rs863224881
|
|
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
|
|
|
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)
|
rs779716706
|
|
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
|
rs1858437723
|
|
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
|
rs1858438320
|
|
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp)
|
rs1594422735
|
|
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg)
|
rs2154006946
|
|
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
|
|
|
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs)
|
rs2154006948
|
|
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
|
|
|
NM_002180.3(IGHMBP2):c.711+12A>C
|
rs2154006952
|
|
NM_002180.3(IGHMBP2):c.711+15C>T
|
rs963088351
|
|
NM_002180.3(IGHMBP2):c.711+16C>T
|
|
|
NM_002180.3(IGHMBP2):c.711+17A>G
|
|
|
NM_002180.3(IGHMBP2):c.711+1G>A
|
|
|
NM_002180.3(IGHMBP2):c.712-10C>T
|
|
|
NM_002180.3(IGHMBP2):c.712-13T>C
|
|
|
NM_002180.3(IGHMBP2):c.712-18C>T
|
|
|
NM_002180.3(IGHMBP2):c.712-5C>T
|
|
|
NM_002180.3(IGHMBP2):c.712-9G>C
|
|
|
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val)
|
rs1858583764
|
|
NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=)
|
|
|
NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=)
|
|
|
NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=)
|
|
|
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=)
|
rs76690064
|
|
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.72G>A (p.Glu24=)
|
|
|
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala)
|
rs775600808
|
|
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
|
rs1555243999
|
|
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)
|
rs1555243999
|
|
NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=)
|
|
|
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
|
|
|
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
|
|
|
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
|
rs1284064613
|
|
NM_002180.3(IGHMBP2):c.756G>A (p.Val252=)
|
|
|
NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=)
|
|
|
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs)
|
rs2154007211
|
|
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg)
|
rs1566430083
|
|
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)
|
rs1594427564
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=)
|
|
|
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
|
|
|
NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=)
|
rs199619824
|
|
NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=)
|
|
|
NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=)
|
|
|
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)
|
rs1566430156
|
|
NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=)
|
rs2154007218
|
|
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr)
|
rs2154007219
|
|
NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=)
|
|
|
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile)
|
rs2154007221
|
|
NM_002180.3(IGHMBP2):c.849T>C (p.Val283=)
|
|
|
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)
|
|
|
NM_002180.3(IGHMBP2):c.86+19G>T
|
|
|
NM_002180.3(IGHMBP2):c.86+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.86+7G>A
|
|
|
NM_002180.3(IGHMBP2):c.86+7G>C
|
rs527948004
|
|
NM_002180.3(IGHMBP2):c.86+9G>A
|
|
|
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
|
rs564645287
|
|
NM_002180.3(IGHMBP2):c.861C>T (p.Ser287=)
|
rs564645287
|
|
NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=)
|
|
|
NM_002180.3(IGHMBP2):c.87-11G>A
|
|
|
NM_002180.3(IGHMBP2):c.87-11G>C
|
|
|
NM_002180.3(IGHMBP2):c.87-12G>A
|
|
|
NM_002180.3(IGHMBP2):c.87-13G>C
|
|
|
NM_002180.3(IGHMBP2):c.87-14C>G
|
|
|
NM_002180.3(IGHMBP2):c.87-20C>A
|
|
|
NM_002180.3(IGHMBP2):c.87-9G>A
|
|
|
NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=)
|
|
|
NM_002180.3(IGHMBP2):c.879T>C (p.Val293=)
|
|
|
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
|
rs759987473
|
|
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr)
|
rs375554721
|
|
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
|
|
|
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
|
rs763867470
|
|
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
|
|
|
NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=)
|
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002180.3(IGHMBP2):c.905_912+85del
|
|
|
NM_002180.3(IGHMBP2):c.912+10A>G
|
|
|
NM_002180.3(IGHMBP2):c.912+11T>C
|
|
|
NM_002180.3(IGHMBP2):c.912+13G>A
|
|
|
NM_002180.3(IGHMBP2):c.912+18T>C
|
|
|
NM_002180.3(IGHMBP2):c.912+4G>C
|
|
|
NM_002180.3(IGHMBP2):c.913-10T>C
|
|
|
NM_002180.3(IGHMBP2):c.913-19C>G
|
|
|
NM_002180.3(IGHMBP2):c.913-6T>A
|
rs2154007472
|
|
NM_002180.3(IGHMBP2):c.913-8C>G
|
|
|
NM_002180.3(IGHMBP2):c.915G>C (p.Val305=)
|
|
|
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
|
rs201177129
|
|
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
|
|
|
NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=)
|
rs1858724192
|
|
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
|
rs1858724192
|
|
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser)
|
rs747287368
|
|
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)
|
rs863224880
|
|
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
|
|
|
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala)
|
rs1858726463
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|
NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=)
|
|
|
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=)
|
rs1594431729
|
|
NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=)
|
|
|
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
|
rs759353094
|
|
NM_003680.4(YARS1):c.1005_1006insT (p.Leu336fs)
|
rs2148601348
|
|
NM_003680.4(YARS1):c.1005del (p.Lys335fs)
|
rs1653090321
|
|
NM_003680.4(YARS1):c.1010C>G (p.Ala337Gly)
|
|
|
NM_003680.4(YARS1):c.1014C>T (p.Ser338=)
|
rs142035566
|
|
NM_003680.4(YARS1):c.101G>A (p.Arg34Gln)
|
|
|
NM_003680.4(YARS1):c.1033T>G (p.Ser345Ala)
|
|
|
NM_003680.4(YARS1):c.1042+20G>A
|
|
|
NM_003680.4(YARS1):c.1042+6G>A
|
rs1653088376
|
|
NM_003680.4(YARS1):c.1042A>G (p.Lys348Glu)
|
rs2148601296
|
|
NM_003680.4(YARS1):c.1043-17G>A
|
rs1410832392
|
|
NM_003680.4(YARS1):c.1043-19G>A
|
|
|
NM_003680.4(YARS1):c.1048A>G (p.Met350Val)
|
rs1553122785
|
|
NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala)
|
|
|
NM_003680.4(YARS1):c.1086G>C (p.Glu362Asp)
|
|
|
NM_003680.4(YARS1):c.1094del (p.Pro365fs)
|
rs1413975578
|
|
NM_003680.4(YARS1):c.1095A>G (p.Pro365=)
|
rs2148600495
|
|
NM_003680.4(YARS1):c.1117G>A (p.Gly373Arg)
|
rs764584188
|
|
NM_003680.4(YARS1):c.1118_1135dup (p.Val378_Glu379insGlyLysIleIleThrVal)
|
|
|
NM_003680.4(YARS1):c.1122A>G (p.Lys374=)
|
|
|
NM_003680.4(YARS1):c.1124T>A (p.Ile375Asn)
|
|
|
NM_003680.4(YARS1):c.112del (p.Ile38fs)
|
rs771840678
|
|
NM_003680.4(YARS1):c.1137G>A (p.Glu379=)
|
|
|
NM_003680.4(YARS1):c.1138A>C (p.Lys380Gln)
|
rs1405248711
|
|
NM_003680.4(YARS1):c.1140+13C>G
|
|
|
NM_003680.4(YARS1):c.1140+4C>G
|
|
|
NM_003680.4(YARS1):c.1141-13C>T
|
rs558667909
|
|
NM_003680.4(YARS1):c.1141-16C>T
|
|
|
NM_003680.4(YARS1):c.1141-8C>T
|
rs1298391875
|
|
NM_003680.4(YARS1):c.1149T>C (p.Asp383=)
|
rs772261295
|
|
NM_003680.4(YARS1):c.1165G>A (p.Val389Ile)
|
|
|
NM_003680.4(YARS1):c.1175T>C (p.Ile392Thr)
|
rs749411607
|
|
NM_003680.4(YARS1):c.1181T>G (p.Val394Gly)
|
rs2148599987
|
|
NM_003680.4(YARS1):c.1182G>T (p.Val394=)
|
|
|
NM_003680.4(YARS1):c.1185G>A (p.Gly395=)
|
|
|
NM_003680.4(YARS1):c.1190C>T (p.Ala397Val)
|
|
|
NM_003680.4(YARS1):c.1195C>T (p.Pro399Ser)
|
|
|
NM_003680.4(YARS1):c.1198C>T (p.Arg400Trp)
|
rs1179946635
|
|
NM_003680.4(YARS1):c.1204G>A (p.Val402Met)
|
|
|
NM_003680.4(YARS1):c.1218G>A (p.Leu406=)
|
rs699005
|
|
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)
|
rs121908833
|
|
NM_003680.4(YARS1):c.1222C>T (p.Gln408Ter)
|
|
|
NM_003680.4(YARS1):c.1224G>A (p.Gln408=)
|
|
|
NM_003680.4(YARS1):c.1227C>T (p.Phe409=)
|
rs763636325
|
|
NM_003680.4(YARS1):c.122G>A (p.Gly41Glu)
|
rs1569778143
|
|
NM_003680.4(YARS1):c.1249G>A (p.Asp417Asn)
|
|
|
NM_003680.4(YARS1):c.1252A>G (p.Arg418Gly)
|
rs2148599905
|
|
NM_003680.4(YARS1):c.1255C>T (p.Leu419=)
|
|
|
NM_003680.4(YARS1):c.125C>T (p.Thr42Met)
|
|
|
NM_003680.4(YARS1):c.1261G>A (p.Val421Met)
|
|
|
NM_003680.4(YARS1):c.1263G>T (p.Val421=)
|
rs775335977
|
|
NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer)
|
rs764028295
|
|
NM_003680.4(YARS1):c.1281dup (p.Pro428fs)
|
rs1653003533
|
|
NM_003680.4(YARS1):c.1285C>T (p.Gln429Ter)
|
|
|
NM_003680.4(YARS1):c.1298G>T (p.Gly433Val)
|
rs2148599873
|
|
NM_003680.4(YARS1):c.1324T>G (p.Cys442Gly)
|
|
|
NM_003680.4(YARS1):c.1328C>A (p.Ala443Asp)
|
|
|
NM_003680.4(YARS1):c.1330T>G (p.Ser444Ala)
|
rs2148599848
|
|
NM_003680.4(YARS1):c.1334+18G>A
|
rs1653001069
|
|
NM_003680.4(YARS1):c.1335-17G>C
|
|
|
NM_003680.4(YARS1):c.1335-8C>G
|
rs1569705339
|
|
NM_003680.4(YARS1):c.1337A>T (p.Glu446Val)
|
|
|
NM_003680.4(YARS1):c.1349G>C (p.Arg450Pro)
|
rs147005844
|
|
NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu)
|
|
|
NM_003680.4(YARS1):c.1353G>C (p.Gln451His)
|
|
|
NM_003680.4(YARS1):c.135G>A (p.Thr45=)
|
rs549109061
|
|
NM_003680.4(YARS1):c.1361C>T (p.Pro454Leu)
|
rs1569705205
|
|
NM_003680.4(YARS1):c.1385C>G (p.Ala462Gly)
|
|
|
NM_003680.4(YARS1):c.1387C>G (p.Pro463Ala)
|
rs1230021901
|
|
NM_003680.4(YARS1):c.138C>T (p.Gly46=)
|
|
|
NM_003680.4(YARS1):c.1396C>G (p.His466Asp)
|
|
|
NM_003680.4(YARS1):c.1400T>G (p.Val467Gly)
|
|
|
NM_003680.4(YARS1):c.1407G>A (p.Val469=)
|
rs377419078
|
|
NM_003680.4(YARS1):c.1407G>T (p.Val469=)
|
rs377419078
|
|
NM_003680.4(YARS1):c.140A>G (p.Lys47Arg)
|
|
|
NM_003680.4(YARS1):c.1418A>G (p.Glu473Gly)
|
rs770972459
|
|
NM_003680.4(YARS1):c.1433A>T (p.Asp478Val)
|
|
|
NM_003680.4(YARS1):c.1435GAG[1] (p.Glu480del)
|
|
|
NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly)
|
|
|
NM_003680.4(YARS1):c.1443C>G (p.Leu481=)
|
|
|
NM_003680.4(YARS1):c.1451A>G (p.Lys484Arg)
|
|
|
NM_003680.4(YARS1):c.1464C>T (p.Phe488=)
|
rs780574093
|
|
NM_003680.4(YARS1):c.1471T>C (p.Leu491=)
|
rs140841549
|
|
NM_003680.4(YARS1):c.1476+17G>T
|
|
|
NM_003680.4(YARS1):c.1476+20C>T
|
|
|
NM_003680.4(YARS1):c.1476+2T>C
|
rs1553122620
|
|
NM_003680.4(YARS1):c.1477-22CT[2]
|
|
|
NM_003680.4(YARS1):c.1480G>A (p.Asp494Asn)
|
rs367622240
|
|
NM_003680.4(YARS1):c.1487A>C (p.Lys496Thr)
|
rs768160751
|
|
NM_003680.4(YARS1):c.1507G>C (p.Ala503Pro)
|
|
|
NM_003680.4(YARS1):c.1507G>T (p.Ala503Ser)
|
rs778099655
|
|
NM_003680.4(YARS1):c.1514G>A (p.Trp505Ter)
|
rs1553122276
|
|
NM_003680.4(YARS1):c.1523C>A (p.Thr508Asn)
|
|
|
NM_003680.4(YARS1):c.1523C>T (p.Thr508Ile)
|
|
|
NM_003680.4(YARS1):c.1527C>T (p.Asn509=)
|
rs1557442867
|
|
NM_003680.4(YARS1):c.1563G>A (p.Ser521=)
|
|
|
NM_003680.4(YARS1):c.1568A>G (p.Lys523Arg)
|
|
|
NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala)
|
rs201687117
|
|
NM_003680.4(YARS1):c.1571G>T (p.Gly524Val)
|
rs201687117
|
|
NM_003680.4(YARS1):c.1574G>A (p.Gly525Glu)
|
rs774982567
|
|
NM_003680.4(YARS1):c.1577A>T (p.Asn526Ile)
|
rs771633110
|
|
NM_003680.4(YARS1):c.1579A>G (p.Ile527Val)
|
|
|
NM_003680.4(YARS1):c.161T>C (p.Val54Ala)
|
|
|
NM_003680.4(YARS1):c.167T>C (p.Met56Thr)
|
|
|
NM_003680.4(YARS1):c.177T>G (p.Ile59Met)
|
rs1240096439
|
|
NM_003680.4(YARS1):c.178G>A (p.Ala60Thr)
|
rs367649729
|
|
NM_003680.4(YARS1):c.17G>A (p.Ser6Asn)
|
rs751101041
|
|
NM_003680.4(YARS1):c.194_202del (p.Ala65_Cys67del)
|
rs2148616655
|
|
NM_003680.4(YARS1):c.204+12T>C
|
|
|
NM_003680.4(YARS1):c.204+16A>C
|
|
|
NM_003680.4(YARS1):c.204+16A>G
|
rs372773941
|
|
NM_003680.4(YARS1):c.205-11C>T
|
|
|
NM_003680.4(YARS1):c.205-16C>T
|
|
|
NM_003680.4(YARS1):c.205-17C>T
|
|
|
NM_003680.4(YARS1):c.205-18C>T
|
|
|
NM_003680.4(YARS1):c.205-2A>G
|
rs538137948
|
|
NM_003680.4(YARS1):c.206dup (p.Thr70fs)
|
|
|
NM_003680.4(YARS1):c.209C>G (p.Thr70Arg)
|
rs771657997
|
|
NM_003680.4(YARS1):c.214C>A (p.Leu72Met)
|
|
|
NM_003680.4(YARS1):c.232G>A (p.Ala78Thr)
|
rs778307213
|
|
NM_003680.4(YARS1):c.233C>G (p.Ala78Gly)
|
|
|
NM_003680.4(YARS1):c.241G>C (p.Asp81His)
|
rs587777891
|
|
NM_003680.4(YARS1):c.244A>G (p.Asn82Asp)
|
|
|
NM_003680.4(YARS1):c.248T>C (p.Met83Thr)
|
|
|
NM_003680.4(YARS1):c.265C>T (p.Leu89Phe)
|
rs2148616548
|
|
NM_003680.4(YARS1):c.270A>G (p.Leu90=)
|
rs1569777416
|
|
NM_003680.4(YARS1):c.271G>C (p.Glu91Gln)
|
|
|
NM_003680.4(YARS1):c.290A>G (p.Tyr97Cys)
|
rs1360212575
|
|
NM_003680.4(YARS1):c.294G>A (p.Glu98=)
|
|
|
NM_003680.4(YARS1):c.294G>C (p.Glu98Asp)
|
rs146442827
|
|
NM_003680.4(YARS1):c.303C>T (p.Ile101=)
|
rs2148616521
|
|
NM_003680.4(YARS1):c.326G>A (p.Gly109Asp)
|
rs1638562641
|
|
NM_003680.4(YARS1):c.330G>A (p.Val110=)
|
|
|
NM_003680.4(YARS1):c.331C>T (p.Pro111Ser)
|
|
|
NM_003680.4(YARS1):c.347A>G (p.Lys116Arg)
|
rs148823175
|
|
NM_003680.4(YARS1):c.380+13T>G
|
|
|
NM_003680.4(YARS1):c.380+19A>G
|
rs961597385
|
|
NM_003680.4(YARS1):c.380+4A>G
|
rs1638561575
|
|
NM_003680.4(YARS1):c.381-11T>A
|
|
|
NM_003680.4(YARS1):c.381-11_381-7del
|
rs2148615001
|
|
NM_003680.4(YARS1):c.381-9C>T
|
|
|
NM_003680.4(YARS1):c.386A>G (p.Tyr129Cys)
|
|
|
NM_003680.4(YARS1):c.389C>T (p.Thr130Ile)
|
|
|
NM_003680.4(YARS1):c.395A>T (p.Asp132Val)
|
rs2148614994
|
|
NM_003680.4(YARS1):c.397G>A (p.Val133Met)
|
|
|
NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)
|
rs763337272
|
|
NM_003680.4(YARS1):c.414C>G (p.Ser138=)
|
|
|
NM_003680.4(YARS1):c.416T>C (p.Val139Ala)
|
|
|
NM_003680.4(YARS1):c.41T>C (p.Ile14Thr)
|
rs1553127237
|
|
NM_003680.4(YARS1):c.424C>A (p.Gln142Lys)
|
rs1470898248
|
|
NM_003680.4(YARS1):c.424C>T (p.Gln142Ter)
|
|
|
NM_003680.4(YARS1):c.425A>G (p.Gln142Arg)
|
rs1638471229
|
|
NM_003680.4(YARS1):c.426G>A (p.Gln142=)
|
|
|
NM_003680.4(YARS1):c.432T>C (p.Asp144=)
|
rs2148614959
|
|
NM_003680.4(YARS1):c.43A>G (p.Thr15Ala)
|
|
|
NM_003680.4(YARS1):c.440A>C (p.Lys147Thr)
|
rs769290451
|
|
NM_003680.4(YARS1):c.44C>A (p.Thr15Asn)
|
rs1638772500
|
|
NM_003680.4(YARS1):c.451G>A (p.Glu151Lys)
|
rs2148614952
|
|
NM_003680.4(YARS1):c.457G>A (p.Val153Ile)
|
|
|
NM_003680.4(YARS1):c.462G>A (p.Lys154=)
|
|
|
NM_003680.4(YARS1):c.466G>A (p.Val156Met)
|
|
|
NM_003680.4(YARS1):c.468G>T (p.Val156=)
|
rs2148614943
|
|
NM_003680.4(YARS1):c.471G>A (p.Glu157=)
|
rs1569769936
|
|
NM_003680.4(YARS1):c.488G>T (p.Gly163Val)
|
rs1638469949
|
|
NM_003680.4(YARS1):c.497A>G (p.Tyr166Cys)
|
rs2148614924
|
|
NM_003680.4(YARS1):c.501C>G (p.Pro167=)
|
rs555572061
|
|
NM_003680.4(YARS1):c.501del (p.Gly168fs)
|
|
|
NM_003680.4(YARS1):c.510+12G>A
|
|
|
NM_003680.4(YARS1):c.511-16G>A
|
|
|
NM_003680.4(YARS1):c.511-3C>G
|
|
|
NM_003680.4(YARS1):c.523G>T (p.Glu175Ter)
|
rs1553124472
|
|
NM_003680.4(YARS1):c.542C>A (p.Ala181Asp)
|
rs1191925938
|
|
NM_003680.4(YARS1):c.54G>T (p.Leu18=)
|
|
|
NM_003680.4(YARS1):c.560A>G (p.Asp187Gly)
|
rs1653653041
|
|
NM_003680.4(YARS1):c.564G>C (p.Gln188His)
|
|
|
NM_003680.4(YARS1):c.57+10G>A
|
rs770928914
|
|
NM_003680.4(YARS1):c.57+10G>T
|
|
|
NM_003680.4(YARS1):c.57+1G>T
|
|
|
NM_003680.4(YARS1):c.57+4A>T
|
rs2148620986
|
|
NM_003680.4(YARS1):c.58-4A>G
|
|
|
NM_003680.4(YARS1):c.58-5A>C
|
rs2148616729
|
|
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)
|
rs121908834
|
|
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)
|
rs121908834
|
|
NM_003680.4(YARS1):c.587A>G (p.Glu196Gly)
|
rs2148610315
|
|
NM_003680.4(YARS1):c.591+17C>T
|
|
|
NM_003680.4(YARS1):c.591+20T>C
|
|
|
NM_003680.4(YARS1):c.591+3G>C
|
rs2148610311
|
|
NM_003680.4(YARS1):c.591+4_591+7del
|
|
|
NM_003680.4(YARS1):c.592-10A>C
|
rs1569732722
|
|
NM_003680.4(YARS1):c.592-11dup
|
|
|
NM_003680.4(YARS1):c.602C>G (p.Ala201Gly)
|
rs1380442148
|
|
NM_003680.4(YARS1):c.619C>T (p.Arg207Trp)
|
rs1653403342
|
|
NM_003680.4(YARS1):c.621G>C (p.Arg207=)
|
rs960541646
|
|
NM_003680.4(YARS1):c.622G>A (p.Val208Ile)
|
|
|
NM_003680.4(YARS1):c.631A>T (p.Met211Leu)
|
rs1426757940
|
|
NM_003680.4(YARS1):c.640A>G (p.Met214Val)
|
|
|
NM_003680.4(YARS1):c.642G>C (p.Met214Ile)
|
|
|
NM_003680.4(YARS1):c.644T>C (p.Val215Ala)
|
rs2148606461
|
|
NM_003680.4(YARS1):c.64C>T (p.Leu22=)
|
|
|
NM_003680.4(YARS1):c.662G>A (p.Ser221Asn)
|
rs1653401735
|
|
NM_003680.4(YARS1):c.670A>G (p.Ser224Gly)
|
|
|
NM_003680.4(YARS1):c.675T>A (p.Ser225=)
|
rs2148606439
|
|
NM_003680.4(YARS1):c.684+18A>G
|
|
|
NM_003680.4(YARS1):c.685-13dup
|
rs2148604171
|
|
NM_003680.4(YARS1):c.685-18C>G
|
rs755793167
|
|
NM_003680.4(YARS1):c.689C>A (p.Ser230Tyr)
|
rs766904685
|
|
NM_003680.4(YARS1):c.692A>C (p.Lys231Thr)
|
rs2148604150
|
|
NM_003680.4(YARS1):c.695T>C (p.Ile232Thr)
|
|
|
NM_003680.4(YARS1):c.695T>G (p.Ile232Ser)
|
rs1553123310
|
|
NM_003680.4(YARS1):c.700C>G (p.Leu234Val)
|
rs1653252713
|
|
NM_003680.4(YARS1):c.710G>A (p.Arg237Gln)
|
|
|
NM_003680.4(YARS1):c.715G>A (p.Glu239Lys)
|
|
|
NM_003680.4(YARS1):c.718_726del (p.Asp240_Lys242del)
|
|
|
NM_003680.4(YARS1):c.727A>G (p.Lys243Glu)
|
|
|
NM_003680.4(YARS1):c.736A>T (p.Lys246Ter)
|
rs2148604127
|
|
NM_003680.4(YARS1):c.737A>G (p.Lys246Arg)
|
|
|
NM_003680.4(YARS1):c.739_740delinsGC (p.Lys247Ala)
|
rs1553123307
|
|
NM_003680.4(YARS1):c.749G>A (p.Cys250Tyr)
|
|
|
NM_003680.4(YARS1):c.749G>C (p.Cys250Ser)
|
|
|
NM_003680.4(YARS1):c.762T>C (p.Asn254=)
|
|
|
NM_003680.4(YARS1):c.76A>G (p.Lys26Glu)
|
|
|
NM_003680.4(YARS1):c.773A>G (p.Asn258Ser)
|
|
|
NM_003680.4(YARS1):c.779T>C (p.Val260Ala)
|
|
|
NM_003680.4(YARS1):c.799G>A (p.Val267Ile)
|
rs1230847972
|
|
NM_003680.4(YARS1):c.799G>C (p.Val267Leu)
|
rs1230847972
|
|
NM_003680.4(YARS1):c.801C>G (p.Val267=)
|
|
|
NM_003680.4(YARS1):c.802C>T (p.Leu268Phe)
|
|
|
NM_003680.4(YARS1):c.808C>G (p.Pro270Ala)
|
|
|
NM_003680.4(YARS1):c.815A>G (p.Lys272Arg)
|
|
|
NM_003680.4(YARS1):c.820+17del
|
rs765601557
|
|
NM_003680.4(YARS1):c.820+19T>G
|
rs2148604052
|
|
NM_003680.4(YARS1):c.820+9C>G
|
rs1569722586
|
|
NM_003680.4(YARS1):c.820+9C>T
|
rs1569722586
|
|
NM_003680.4(YARS1):c.820G>A (p.Glu274Lys)
|
rs758897498
|
|
NM_003680.4(YARS1):c.820G>C (p.Glu274Gln)
|
|
|
NM_003680.4(YARS1):c.821-3T>C
|
rs757673905
|
|
NM_003680.4(YARS1):c.833T>C (p.Leu278Pro)
|
|
|
NM_003680.4(YARS1):c.835C>T (p.Arg279Ter)
|
rs767579114
|
|
NM_003680.4(YARS1):c.836G>A (p.Arg279Gln)
|
|
|
NM_003680.4(YARS1):c.839A>G (p.Asp280Gly)
|
|
|
NM_003680.4(YARS1):c.854del (p.Gly285fs)
|
|
|
NM_003680.4(YARS1):c.857A>G (p.Asn286Ser)
|
rs761748976
|
|
NM_003680.4(YARS1):c.870A>C (p.Thr290=)
|
rs1408410032
|
|
NM_003680.4(YARS1):c.870A>G (p.Thr290=)
|
|
|
NM_003680.4(YARS1):c.876C>T (p.Tyr292=)
|
|
|
NM_003680.4(YARS1):c.88A>T (p.Ile30Leu)
|
|
|
NM_003680.4(YARS1):c.899C>T (p.Ala300Val)
|
rs1653226667
|
|
NM_003680.4(YARS1):c.906+12G>T
|
|
|
NM_003680.4(YARS1):c.907-11C>T
|
|
|
NM_003680.4(YARS1):c.907-19G>A
|
|
|
NM_003680.4(YARS1):c.907-4G>A
|
|
|
NM_003680.4(YARS1):c.907-7T>G
|
|
|
NM_003680.4(YARS1):c.910G>T (p.Val304Leu)
|
rs2148601486
|
|
NM_003680.4(YARS1):c.92T>C (p.Leu31Pro)
|
rs781102946
|
|
NM_003680.4(YARS1):c.930G>A (p.Lys310=)
|
rs781622921
|
|
NM_003680.4(YARS1):c.945C>A (p.Val315=)
|
|
|
NM_003680.4(YARS1):c.945C>T (p.Val315=)
|
|
|
NM_003680.4(YARS1):c.970A>G (p.Ile324Val)
|
|
|
NM_003680.4(YARS1):c.973C>T (p.Arg325Trp)
|
|
|
NM_003680.4(YARS1):c.978A>G (p.Glu326=)
|
|
|
NM_003680.4(YARS1):c.986A>G (p.Asn329Ser)
|
|
|
NM_003680.4(YARS1):c.990C>A (p.Thr330=)
|
|
|
NM_003680.4(YARS1):c.992C>G (p.Pro331Arg)
|
|
|
NM_003680.4(YARS1):c.996C>T (p.Ala332=)
|
rs1003798493
|
|
NM_004637.6(RAB7A):c.138G>C (p.Leu46=)
|
|
|
NM_004637.6(RAB7A):c.148G>A (p.Val50Met)
|
rs1933610846
|
|
NM_004637.6(RAB7A):c.151A>G (p.Met51Val)
|
|
|
NM_004637.6(RAB7A):c.180+4A>T
|
rs1933611370
|
|
NM_004637.6(RAB7A):c.180+7A>G
|
rs1235702497
|
|
NM_004637.6(RAB7A):c.181-3C>T
|
rs1411160897
|
|
NM_004637.6(RAB7A):c.181-4A>T
|
rs1576303639
|
|
NM_004637.6(RAB7A):c.181-9C>T
|
|
|
NM_004637.6(RAB7A):c.249C>T (p.Cys83=)
|
|
|
NM_004637.6(RAB7A):c.294C>G (p.Thr98=)
|
|
|
NM_004637.6(RAB7A):c.300T>C (p.Asp100=)
|
|
|
NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly)
|
|
|
NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys)
|
|
|
NM_004637.6(RAB7A):c.357A>G (p.Pro119=)
|
rs1576303724
|
|
NM_004637.6(RAB7A):c.366G>T (p.Val122=)
|
|
|
NM_004637.6(RAB7A):c.375C>T (p.Asn125=)
|
rs2107615696
|
|
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)
|
rs1933806941
|
|
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)
|
rs121909078
|
|
NM_004637.6(RAB7A):c.399+12C>T
|
|
|
NM_004637.6(RAB7A):c.399+14A>G
|
|
|
NM_004637.6(RAB7A):c.399+17A>C
|
|
|
NM_004637.6(RAB7A):c.399+19A>G
|
rs2107615708
|
|
NM_004637.6(RAB7A):c.400-11T>G
|
|
|
NM_004637.6(RAB7A):c.400-13CTT[2]
|
|
|
NM_004637.6(RAB7A):c.400-15T>G
|
|
|
NM_004637.6(RAB7A):c.400-16C>G
|
|
|
NM_004637.6(RAB7A):c.400-17C>G
|
rs762146227
|
|
NM_004637.6(RAB7A):c.400-6T>C
|
|
|
NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr)
|
rs368804888
|
|
NM_004637.6(RAB7A):c.414G>T (p.Arg138=)
|
rs754928233
|
|
NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr)
|
|
|
NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn)
|
rs2107616079
|
|
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr)
|
rs1320514833
|
|
NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn)
|
|
|
NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr)
|
rs1576304176
|
|
NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly)
|
rs2107616088
|
|
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)
|
rs121909081
|
|
NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile)
|
rs121909080
|
|
NM_004637.6(RAB7A):c.484G>A (p.Val162Met)
|
rs121909079
|
|
NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp)
|
|
|
NM_004637.6(RAB7A):c.528+20C>T
|
|
|
NM_004637.6(RAB7A):c.528+2dup
|
|
|
NM_004637.6(RAB7A):c.528+9C>T
|
rs766544504
|
|
NM_004637.6(RAB7A):c.529-20T>G
|
|
|
NM_004637.6(RAB7A):c.529-6G>A
|
rs2107618412
|
|
NM_004637.6(RAB7A):c.53+14G>T
|
|
|
NM_004637.6(RAB7A):c.53+7T>C
|
rs1933544756
|
|
NM_004637.6(RAB7A):c.53+9C>G
|
|
|
NM_004637.6(RAB7A):c.531A>G (p.Glu177=)
|
rs2107618413
|
|
NM_004637.6(RAB7A):c.534G>A (p.Thr178=)
|
rs766818777
|
|
NM_004637.6(RAB7A):c.54-9C>T
|
|
|
NM_004637.6(RAB7A):c.544C>A (p.Leu182Met)
|
|
|
NM_004637.6(RAB7A):c.570C>G (p.Ile190Met)
|
|
|
NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg)
|
rs2107618433
|
|
NM_004637.6(RAB7A):c.57C>T (p.Val19=)
|
|
|
NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly)
|
rs745507763
|
|
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)
|
rs745507763
|
|
NM_004637.6(RAB7A):c.591G>C (p.Arg197=)
|
|
|
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)
|
|
|
NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser)
|
rs748832566
|
|
NM_004637.6(RAB7A):c.603G>C (p.Ser201=)
|
rs61748098
|
|
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly)
|
rs2107618449
|
|
NM_004637.6(RAB7A):c.621C>T (p.Cys207=)
|
|
|
NM_004637.6(RAB7A):c.74T>C (p.Met25Thr)
|
|
|
NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser)
|
|
|
NM_004637.6(RAB7A):c.99C>T (p.Phe33=)
|
|
|
NM_004990.4(MARS1):c.1013T>C (p.Ile338Thr)
|
|
|
NM_004990.4(MARS1):c.1016T>C (p.Ile339Thr)
|
|
|
NM_004990.4(MARS1):c.1019A>G (p.His340Arg)
|
|
|
NM_004990.4(MARS1):c.1024G>A (p.Asp342Asn)
|
|
|
NM_004990.4(MARS1):c.1027A>G (p.Ile343Val)
|
|
|
NM_004990.4(MARS1):c.1027_1028del (p.Ile343fs)
|
|
|
NM_004990.4(MARS1):c.1034G>A (p.Arg345His)
|
|
|
NM_004990.4(MARS1):c.1043A>T (p.Asn348Ile)
|
|
|
NM_004990.4(MARS1):c.1052T>C (p.Phe351Ser)
|
rs2140017178
|
|
NM_004990.4(MARS1):c.1059T>A (p.Ile353=)
|
|
|
NM_004990.4(MARS1):c.109+16_109+21del
|
|
|
NM_004990.4(MARS1):c.109+19G>T
|
|
|
NM_004990.4(MARS1):c.109+7GTGCTG[3]
|
rs763091763
|
|
NM_004990.4(MARS1):c.1091+15A>T
|
|
|
NM_004990.4(MARS1):c.1091+19G>A
|
|
|
NM_004990.4(MARS1):c.1091+20G>A
|
|
|
NM_004990.4(MARS1):c.1091+3A>G
|
rs2140017230
|
|
NM_004990.4(MARS1):c.1092-18C>T
|
|
|
NM_004990.4(MARS1):c.1092-3C>T
|
|
|
NM_004990.4(MARS1):c.1095C>T (p.Ile365=)
|
rs1555167079
|
|
NM_004990.4(MARS1):c.1097C>G (p.Thr366Ser)
|
|
|
NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)
|
|
|
NM_004990.4(MARS1):c.110-13A>T
|
rs2139996676
|
|
NM_004990.4(MARS1):c.110-5A>C
|
rs749110648
|
|
NM_004990.4(MARS1):c.110-5A>G
|
rs749110648
|
|
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
|
|
|
NM_004990.4(MARS1):c.1126C>T (p.Arg376Ter)
|
|
|
NM_004990.4(MARS1):c.1145A>C (p.Asp382Ala)
|
|
|
NM_004990.4(MARS1):c.1151T>C (p.Val384Ala)
|
|
|
NM_004990.4(MARS1):c.115G>A (p.Val39Met)
|
rs564742568
|
|
NM_004990.4(MARS1):c.115G>C (p.Val39Leu)
|
|
|
NM_004990.4(MARS1):c.1165T>C (p.Cys389Arg)
|
|
|
NM_004990.4(MARS1):c.1171C>G (p.His391Asp)
|
|
|
NM_004990.4(MARS1):c.1195C>T (p.Arg399Cys)
|
|
|
NM_004990.4(MARS1):c.119del (p.Val40fs)
|
|
|
NM_004990.4(MARS1):c.1200C>T (p.Phe400=)
|
|
|
NM_004990.4(MARS1):c.120C>T (p.Val40=)
|
|
|
NM_004990.4(MARS1):c.1210G>A (p.Val404Met)
|
rs370559405
|
|
NM_004990.4(MARS1):c.1212G>A (p.Val404=)
|
rs2140019580
|
|
NM_004990.4(MARS1):c.1221C>T (p.Phe407=)
|
|
|
NM_004990.4(MARS1):c.1229A>G (p.Tyr410Cys)
|
|
|
NM_004990.4(MARS1):c.1233G>A (p.Glu411=)
|
|
|
NM_004990.4(MARS1):c.123G>C (p.Pro41=)
|
|
|
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)
|
rs1594821386
|
|
NM_004990.4(MARS1):c.126C>T (p.Phe42=)
|
|
|
NM_004990.4(MARS1):c.1270C>G (p.Leu424Val)
|
rs2140019644
|
|
NM_004990.4(MARS1):c.1271T>C (p.Leu424Pro)
|
|
|
NM_004990.4(MARS1):c.1273A>G (p.Ile425Val)
|
|
|
NM_004990.4(MARS1):c.1284C>G (p.Val428=)
|
|
|
NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys)
|
|
|
NM_004990.4(MARS1):c.1293+17C>T
|
rs1209786533
|
|
NM_004990.4(MARS1):c.1293+5G>A
|
rs1876872609
|
|
NM_004990.4(MARS1):c.1293+9A>C
|
|
|
NM_004990.4(MARS1):c.1294-13T>C
|
|
|
NM_004990.4(MARS1):c.1294-4G>A
|
|
|
NM_004990.4(MARS1):c.1294-5C>G
|
rs149946100
|
|
NM_004990.4(MARS1):c.1294-5C>T
|
rs149946100
|
|
NM_004990.4(MARS1):c.1294-6T>C
|
|
|
NM_004990.4(MARS1):c.1296G>A (p.Lys432=)
|
|
|
NM_004990.4(MARS1):c.1311C>T (p.Val437=)
|
|
|
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
|
|
|
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
|
rs780028144
|
|
NM_004990.4(MARS1):c.1332G>A (p.Val444=)
|
rs1594824620
|
|
NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg)
|
|
|
NM_004990.4(MARS1):c.1338G>C (p.Ser446=)
|
rs781410179
|
|
NM_004990.4(MARS1):c.1338G>T (p.Ser446=)
|
rs781410179
|
|
NM_004990.4(MARS1):c.1369-10G>A
|
|
|
NM_004990.4(MARS1):c.1369-6T>C
|
|
|
NM_004990.4(MARS1):c.1369-6_1369-2del
|
|
|
NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)
|
|
|
NM_004990.4(MARS1):c.1380A>C (p.Arg460=)
|
|
|
NM_004990.4(MARS1):c.1392G>T (p.Trp464Cys)
|
|
|
NM_004990.4(MARS1):c.13G>A (p.Val5Met)
|
rs587777227
|
|
NM_004990.4(MARS1):c.1428C>G (p.Pro476=)
|
|
|
NM_004990.4(MARS1):c.1434C>T (p.Ala478=)
|
rs1594832520
|
|
NM_004990.4(MARS1):c.1436A>G (p.Gln479Arg)
|
|
|
NM_004990.4(MARS1):c.144C>A (p.Val48=)
|
rs1018358556
|
|
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
|
|
|
NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln)
|
|
|
NM_004990.4(MARS1):c.1479C>G (p.Arg493=)
|
|
|
NM_004990.4(MARS1):c.1480T>C (p.Cys494Arg)
|
|
|
NM_004990.4(MARS1):c.1489C>T (p.Arg497Ter)
|
|
|
NM_004990.4(MARS1):c.148G>A (p.Val50Ile)
|
|
|
NM_004990.4(MARS1):c.1490G>A (p.Arg497Gln)
|
|
|
NM_004990.4(MARS1):c.1500del (p.Lys500fs)
|
rs754505518
|
|
NM_004990.4(MARS1):c.1514dup (p.Pro506fs)
|
rs1877536163
|
|
NM_004990.4(MARS1):c.1518del (p.Pro506_Leu507insTer)
|
rs2140033925
|
|
NM_004990.4(MARS1):c.1531_1539+14del
|
|
|
NM_004990.4(MARS1):c.1534del (p.Asp512fs)
|
|
|
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
|
rs567401794
|
|
NM_004990.4(MARS1):c.1539+10del
|
rs1877538364
|
|
NM_004990.4(MARS1):c.1539+14T>G
|
|
|
NM_004990.4(MARS1):c.1539+7del
|
|
|
NM_004990.4(MARS1):c.1539G>T (p.Lys513Asn)
|
|
|
NM_004990.4(MARS1):c.1540-16T>C
|
|
|
NM_004990.4(MARS1):c.1560T>C (p.Asp520=)
|
|
|
NM_004990.4(MARS1):c.1581C>T (p.Ser527=)
|
rs2140034173
|
|
NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys)
|
|
|
NM_004990.4(MARS1):c.1598C>G (p.Thr533Arg)
|
|
|
NM_004990.4(MARS1):c.1635+11C>G
|
rs758827704
|
|
NM_004990.4(MARS1):c.1635+4A>G
|
|
|
NM_004990.4(MARS1):c.1636-16A>G
|
|
|
NM_004990.4(MARS1):c.1636-17T>G
|
|
|
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
|
rs1875708945
|
|
NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)
|
|
|
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del)
|
rs1555168270
|
|
NM_004990.4(MARS1):c.1705C>G (p.Leu569Val)
|
|
|
NM_004990.4(MARS1):c.1709_1710delinsTT (p.Gly570Val)
|
|
|
NM_004990.4(MARS1):c.1721A>C (p.Asn574Thr)
|
|
|
NM_004990.4(MARS1):c.1727C>G (p.Thr576Ser)
|
rs1357906437
|
|
NM_004990.4(MARS1):c.174C>T (p.Tyr58=)
|
|
|
NM_004990.4(MARS1):c.1753+16G>A
|
|
|
NM_004990.4(MARS1):c.1754-11C>T
|
rs1877582119
|
|
NM_004990.4(MARS1):c.1754-15T>C
|
|
|
NM_004990.4(MARS1):c.1754-17C>G
|
|
|
NM_004990.4(MARS1):c.1754-1G>A
|
rs1594833474
|
|
NM_004990.4(MARS1):c.1754-1G>C
|
rs1594833474
|
|
NM_004990.4(MARS1):c.1754-6G>A
|
|
|
NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala)
|
|
|
NM_004990.4(MARS1):c.1797T>C (p.Gly599=)
|
|
|
NM_004990.4(MARS1):c.1802G>C (p.Gly601Ala)
|
rs2140034963
|
|
NM_004990.4(MARS1):c.1809T>A (p.Phe603Leu)
|
rs2140034972
|
|
NM_004990.4(MARS1):c.180C>T (p.Phe60=)
|
rs148642961
|
|
NM_004990.4(MARS1):c.1829C>T (p.Thr610Met)
|
|
|
NM_004990.4(MARS1):c.1830G>A (p.Thr610=)
|
|
|
NM_004990.4(MARS1):c.1853G>A (p.Arg618His)
|
|
|
NM_004990.4(MARS1):c.1853G>T (p.Arg618Leu)
|
|
|
NM_004990.4(MARS1):c.1859_1862del (p.Tyr620fs)
|
|
|
NM_004990.4(MARS1):c.1859_1862dup (p.Leu622fs)
|
|
|
NM_004990.4(MARS1):c.1870A>G (p.Ile624Val)
|
|
|
NM_004990.4(MARS1):c.1874G>A (p.Arg625Gln)
|
|
|
NM_004990.4(MARS1):c.1874G>T (p.Arg625Leu)
|
|
|
NM_004990.4(MARS1):c.1892G>T (p.Ser631Ile)
|
|
|
NM_004990.4(MARS1):c.1901C>T (p.Ser634Phe)
|
rs769611828
|
|
NM_004990.4(MARS1):c.1906A>G (p.Thr636Ala)
|
|
|
NM_004990.4(MARS1):c.1907C>T (p.Thr636Met)
|
|
|
NM_004990.4(MARS1):c.1910dup (p.Asp637fs)
|
|
|
NM_004990.4(MARS1):c.1911C>T (p.Asp637=)
|
rs1208670823
|
|
NM_004990.4(MARS1):c.1914G>A (p.Leu638=)
|
|
|
NM_004990.4(MARS1):c.1925A>G (p.Asn642Ser)
|
|
|
NM_004990.4(MARS1):c.1932_1933insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAATAATTCT (p.Glu645delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_004990.4(MARS1):c.1940T>C (p.Leu647Pro)
|
|
|
NM_004990.4(MARS1):c.1967+12T>G
|
|
|
NM_004990.4(MARS1):c.1967+15G>T
|
|
|
NM_004990.4(MARS1):c.1967+18del
|
rs1363373533
|
|
NM_004990.4(MARS1):c.1967+3A>G
|
rs183042263
|
|
NM_004990.4(MARS1):c.1968-10C>T
|
rs773836689
|
|
NM_004990.4(MARS1):c.1968-20C>T
|
|
|
NM_004990.4(MARS1):c.1968-6A>C
|
|
|
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
|
rs1594835469
|
|
NM_004990.4(MARS1):c.1979T>G (p.Phe660Cys)
|
rs2140036938
|
|
NM_004990.4(MARS1):c.1998G>A (p.Gly666=)
|
|
|
NM_004990.4(MARS1):c.200+11G>A
|
|
|
NM_004990.4(MARS1):c.200+18G>A
|
|
|
NM_004990.4(MARS1):c.200+4A>G
|
rs774241581
|
|
NM_004990.4(MARS1):c.2001C>A (p.Gly667=)
|
rs2140036969
|
|
NM_004990.4(MARS1):c.2001C>T (p.Gly667=)
|
|
|
NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)
|
|
|
NM_004990.4(MARS1):c.201-14C>G
|
|
|
NM_004990.4(MARS1):c.201-16C>T
|
|
|
NM_004990.4(MARS1):c.201-20G>A
|
|
|
NM_004990.4(MARS1):c.2017G>A (p.Val673Met)
|
|
|
NM_004990.4(MARS1):c.2017G>T (p.Val673Leu)
|
rs145672326
|
|
NM_004990.4(MARS1):c.2019G>A (p.Val673=)
|
|
|
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly)
|
rs1205620243
|
|
NM_004990.4(MARS1):c.2039G>A (p.Arg680His)
|
|
|
NM_004990.4(MARS1):c.2071C>T (p.His691Tyr)
|
|
|
NM_004990.4(MARS1):c.2077C>T (p.His693Tyr)
|
|
|
NM_004990.4(MARS1):c.2079C>T (p.His693=)
|
|
|
NM_004990.4(MARS1):c.2082G>A (p.Gln694=)
|
|
|
NM_004990.4(MARS1):c.2088T>C (p.Leu696=)
|
|
|
NM_004990.4(MARS1):c.2099+12A>T
|
|
|
NM_004990.4(MARS1):c.2099+13C>T
|
|
|
NM_004990.4(MARS1):c.2099+18_2099+19del
|
rs2140037113
|
|
NM_004990.4(MARS1):c.2099+6dup
|
|
|
NM_004990.4(MARS1):c.2099+9C>T
|
|
|
NM_004990.4(MARS1):c.2100-1G>A
|
|
|
NM_004990.4(MARS1):c.2100-4C>T
|
rs1253766413
|
|
NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly)
|
|
|
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
|
rs530730589
|
|
NM_004990.4(MARS1):c.2114dup (p.Leu705fs)
|
rs777324495
|
|
NM_004990.4(MARS1):c.2117G>A (p.Arg706His)
|
|
|
NM_004990.4(MARS1):c.212del (p.Leu71fs)
|
rs751080704
|
|
NM_004990.4(MARS1):c.2131A>G (p.Ile711Val)
|
|
|
NM_004990.4(MARS1):c.2134T>C (p.Ser712Pro)
|
|
|
NM_004990.4(MARS1):c.2139A>G (p.Arg713=)
|
|
|
NM_004990.4(MARS1):c.2149C>A (p.Gln717Lys)
|
|
|
NM_004990.4(MARS1):c.2150A>G (p.Gln717Arg)
|
|
|
NM_004990.4(MARS1):c.2155A>G (p.Ile719Val)
|
|
|
NM_004990.4(MARS1):c.2161G>A (p.Val721Met)
|
|
|
NM_004990.4(MARS1):c.2196G>A (p.Glu732=)
|
|
|
NM_004990.4(MARS1):c.2204+19T>C
|
|
|
NM_004990.4(MARS1):c.2204+3A>C
|
rs752787448
|
|
NM_004990.4(MARS1):c.2204+3A>G
|
|
|
NM_004990.4(MARS1):c.2204+4_2204+7del
|
rs1327486572
|
|
NM_004990.4(MARS1):c.2204+6T>C
|
|
|
NM_004990.4(MARS1):c.2204+9G>A
|
|
|
NM_004990.4(MARS1):c.2205-10T>C
|
|
|
NM_004990.4(MARS1):c.2205-16G>A
|
|
|
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp)
|
rs139536122
|
|
NM_004990.4(MARS1):c.2223G>C (p.Val741=)
|
|
|
NM_004990.4(MARS1):c.2224A>G (p.Thr742Ala)
|
rs2140037579
|
|
NM_004990.4(MARS1):c.2227G>A (p.Gly743Ser)
|
|
|
NM_004990.4(MARS1):c.2230T>C (p.Leu744=)
|
|
|
NM_004990.4(MARS1):c.2235A>C (p.Ala745=)
|
rs2140037595
|
|
NM_004990.4(MARS1):c.2241T>G (p.Asn747Lys)
|
|
|
NM_004990.4(MARS1):c.2244A>G (p.Ile748Met)
|
|
|
NM_004990.4(MARS1):c.2246C>T (p.Ala749Val)
|
|
|
NM_004990.4(MARS1):c.2256C>T (p.Leu752=)
|
|
|
NM_004990.4(MARS1):c.2262C>T (p.Val754=)
|
|
|
NM_004990.4(MARS1):c.2264T>C (p.Met755Thr)
|
|
|
NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)
|
|
|
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
|
rs1594836361
|
|
NM_004990.4(MARS1):c.2286G>A (p.Thr762=)
|
|
|
NM_004990.4(MARS1):c.2291G>C (p.Ser764Thr)
|
rs1565652335
|
|
NM_004990.4(MARS1):c.2295C>A (p.Ala765=)
|
rs2140037698
|
|
NM_004990.4(MARS1):c.2302C>G (p.Gln768Glu)
|
|
|
NM_004990.4(MARS1):c.2314C>T (p.Gln772Ter)
|
rs1248367484
|
|
NM_004990.4(MARS1):c.2323C>G (p.Pro775Ala)
|
|
|
NM_004990.4(MARS1):c.2333G>A (p.Cys778Tyr)
|
|
|
NM_004990.4(MARS1):c.2336G>C (p.Ser779Thr)
|
|
|
NM_004990.4(MARS1):c.2340C>A (p.Ile780=)
|
rs2140037772
|
|
NM_004990.4(MARS1):c.2352C>T (p.Asn784=)
|
|
|
NM_004990.4(MARS1):c.2356C>T (p.Leu786=)
|
|
|
NM_004990.4(MARS1):c.2370A>C (p.Pro790=)
|
|
|
NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys)
|
|
|
NM_004990.4(MARS1):c.2391+13G>A
|
rs2140037889
|
|
NM_004990.4(MARS1):c.2391+1G>C
|
|
|
NM_004990.4(MARS1):c.2392-12C>A
|
|
|
NM_004990.4(MARS1):c.2392-5dup
|
|
|
NM_004990.4(MARS1):c.2392-7_2392-5del
|
rs753118055
|
|
NM_004990.4(MARS1):c.2421T>C (p.Asn807=)
|
rs1057523185
|
|
NM_004990.4(MARS1):c.2422G>T (p.Asp808Tyr)
|
|
|
NM_004990.4(MARS1):c.2438T>A (p.Leu813Ter)
|
|
|
NM_004990.4(MARS1):c.2446C>G (p.Arg816Gly)
|
rs368028253
|
|
NM_004990.4(MARS1):c.2458G>A (p.Gly820Ser)
|
|
|
NM_004990.4(MARS1):c.2462A>G (p.Gln821Arg)
|
|
|
NM_004990.4(MARS1):c.2464-12G>A
|
|
|
NM_004990.4(MARS1):c.2464-18A>G
|
|
|
NM_004990.4(MARS1):c.2464-6C>T
|
|
|
NM_004990.4(MARS1):c.2464-9_2464-7del
|
rs757191684
|
|
NM_004990.4(MARS1):c.2472G>A (p.Thr824=)
|
rs1594838097
|
|
NM_004990.4(MARS1):c.2481G>A (p.Lys827=)
|
|
|
NM_004990.4(MARS1):c.2489T>C (p.Val830Ala)
|
|
|
NM_004990.4(MARS1):c.2504C>A (p.Thr835Lys)
|
|
|
NM_004990.4(MARS1):c.2504del (p.Thr835fs)
|
|
|
NM_004990.4(MARS1):c.2507C>G (p.Thr836Arg)
|
rs1159370358
|
|
NM_004990.4(MARS1):c.2514G>C (p.Lys838Asn)
|
|
|
NM_004990.4(MARS1):c.2527C>A (p.Gln843Lys)
|
|
|
NM_004990.4(MARS1):c.2540A>C (p.Asp847Ala)
|
|
|
NM_004990.4(MARS1):c.2549C>T (p.Thr850Ile)
|
|
|
NM_004990.4(MARS1):c.2556+1G>A
|
rs1877828714
|
|
NM_004990.4(MARS1):c.2556+3A>G
|
|
|
NM_004990.4(MARS1):c.2556+3A>T
|
|
|
NM_004990.4(MARS1):c.2556+4T>A
|
|
|
NM_004990.4(MARS1):c.2556+5G>A
|
|
|
NM_004990.4(MARS1):c.2557-11C>T
|
|
|
NM_004990.4(MARS1):c.2557-12C>A
|
rs189933911
|
|
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.2557-15C>A
|
|
|
NM_004990.4(MARS1):c.2557-8T>C
|
rs2140039581
|
|
NM_004990.4(MARS1):c.2574A>G (p.Glu858=)
|
rs2140039637
|
|
NM_004990.4(MARS1):c.2577G>C (p.Leu859=)
|
rs1594838549
|
|
NM_004990.4(MARS1):c.2590G>A (p.Ala864Thr)
|
|
|
NM_004990.4(MARS1):c.2607del (p.Ala870fs)
|
|
|
NM_004990.4(MARS1):c.2619G>C (p.Val873=)
|
rs762100988
|
|
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
|
|
|
NM_004990.4(MARS1):c.2625A>G (p.Lys875=)
|
|
|
NM_004990.4(MARS1):c.2629T>C (p.Leu877=)
|
rs2140039764
|
|
NM_004990.4(MARS1):c.2637A>G (p.Leu879=)
|
rs1594838666
|
|
NM_004990.4(MARS1):c.2655A>G (p.Val885=)
|
rs1594838715
|
|
NM_004990.4(MARS1):c.265G>A (p.Ala89Thr)
|
|
|
NM_004990.4(MARS1):c.2662G>A (p.Gly888Arg)
|
|
|
NM_004990.4(MARS1):c.2673_2674insTTC (p.Pro891_Glu892insPhe)
|
|
|
NM_004990.4(MARS1):c.2677G>A (p.Ala893Thr)
|
|
|
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
|
rs1027516483
|
|
NM_004990.4(MARS1):c.2679C>T (p.Ala893=)
|
|
|
NM_004990.4(MARS1):c.2685A>T (p.Lys895Asn)
|
rs1181373475
|
|
NM_004990.4(MARS1):c.2685dup (p.Gly896fs)
|
|
|
NM_004990.4(MARS1):c.2686G>C (p.Gly896Arg)
|
|
|
NM_004990.4(MARS1):c.2691G>C (p.Lys897Asn)
|
|
|
NM_004990.4(MARS1):c.2694G>A (p.Lys898=)
|
|
|
NM_004990.4(MARS1):c.2701_*3del (p.Ter901del)
|
rs1409128703
|
|
NM_004990.4(MARS1):c.273G>A (p.Glu91=)
|
rs1386779593
|
|
NM_004990.4(MARS1):c.279+17G>A
|
|
|
NM_004990.4(MARS1):c.279+18G>A
|
rs2139997523
|
|
NM_004990.4(MARS1):c.279+5G>A
|
|
|
NM_004990.4(MARS1):c.280-12C>A
|
|
|
NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)
|
|
|
NM_004990.4(MARS1):c.295G>T (p.Ala99Ser)
|
|
|
NM_004990.4(MARS1):c.30G>A (p.Pro10=)
|
|
|
NM_004990.4(MARS1):c.311T>A (p.Val104Glu)
|
|
|
NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)
|
|
|
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
|
rs746237960
|
|
NM_004990.4(MARS1):c.337G>T (p.Val113Phe)
|
|
|
NM_004990.4(MARS1):c.343G>A (p.Gly115Ser)
|
rs2139997870
|
|
NM_004990.4(MARS1):c.349G>A (p.Val117Met)
|
|
|
NM_004990.4(MARS1):c.363G>C (p.Leu121=)
|
|
|
NM_004990.4(MARS1):c.371T>C (p.Ile124Thr)
|
|
|
NM_004990.4(MARS1):c.379A>G (p.Ser127Gly)
|
rs1046282755
|
|
NM_004990.4(MARS1):c.389G>C (p.Arg130Pro)
|
|
|
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)
|
rs1875583589
|
|
NM_004990.4(MARS1):c.397T>G (p.Cys133Gly)
|
|
|
NM_004990.4(MARS1):c.398G>A (p.Cys133Tyr)
|
rs2139998020
|
|
NM_004990.4(MARS1):c.414+11T>C
|
|
|
NM_004990.4(MARS1):c.414+1G>T
|
|
|
NM_004990.4(MARS1):c.415-13A>G
|
|
|
NM_004990.4(MARS1):c.415-14T>G
|
|
|
NM_004990.4(MARS1):c.415-5C>G
|
rs747351446
|
|
NM_004990.4(MARS1):c.415-9C>T
|
|
|
NM_004990.4(MARS1):c.423A>G (p.Glu141=)
|
|
|
NM_004990.4(MARS1):c.425C>G (p.Ser142Cys)
|
|
|
NM_004990.4(MARS1):c.427C>G (p.Leu143Val)
|
|
|
NM_004990.4(MARS1):c.433G>A (p.Asp145Asn)
|
|
|
NM_004990.4(MARS1):c.437T>C (p.Ile146Thr)
|
|
|
NM_004990.4(MARS1):c.460C>A (p.Pro154Thr)
|
|
|
NM_004990.4(MARS1):c.478G>T (p.Ala160Ser)
|
|
|
NM_004990.4(MARS1):c.490+19A>G
|
|
|
NM_004990.4(MARS1):c.490+9T>C
|
|
|
NM_004990.4(MARS1):c.491-10A>T
|
rs1252227801
|
|
NM_004990.4(MARS1):c.491-15C>T
|
|
|
NM_004990.4(MARS1):c.491-5C>A
|
rs761648454
|
|
NM_004990.4(MARS1):c.509A>G (p.His170Arg)
|
|
|
NM_004990.4(MARS1):c.511A>G (p.Ser171Gly)
|
rs142331178
|
|
NM_004990.4(MARS1):c.520C>T (p.Gln174Ter)
|
|
|
NM_004990.4(MARS1):c.533C>T (p.Thr178Ile)
|
|
|
NM_004990.4(MARS1):c.534C>T (p.Thr178=)
|
|
|
NM_004990.4(MARS1):c.542C>T (p.Pro181Leu)
|
|
|
NM_004990.4(MARS1):c.564T>G (p.Thr188=)
|
|
|
NM_004990.4(MARS1):c.576G>A (p.Gln192=)
|
|
|
NM_004990.4(MARS1):c.577C>G (p.Gln193Glu)
|
|
|
NM_004990.4(MARS1):c.580G>T (p.Gly194Cys)
|
|
|
NM_004990.4(MARS1):c.590C>T (p.Ala197Val)
|
|
|
NM_004990.4(MARS1):c.596G>A (p.Arg199Gln)
|
|
|
NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)
|
|
|
NM_004990.4(MARS1):c.615G>A (p.Gln205=)
|
|
|
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser)
|
rs1565637642
|
|
NM_004990.4(MARS1):c.618C>T (p.Pro206=)
|
|
|
NM_004990.4(MARS1):c.636G>C (p.Glu212Asp)
|
|
|
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
|
rs1875839232
|
|
NM_004990.4(MARS1):c.659del (p.Pro220fs)
|
rs777370844
|
|
NM_004990.4(MARS1):c.663+14C>T
|
|
|
NM_004990.4(MARS1):c.663+19C>G
|
|
|
NM_004990.4(MARS1):c.663+9T>C
|
|
|
NM_004990.4(MARS1):c.664-12C>T
|
rs1233946450
|
|
NM_004990.4(MARS1):c.664-5T>C
|
|
|
NM_004990.4(MARS1):c.667G>A (p.Glu223Lys)
|
rs1249955185
|
|
NM_004990.4(MARS1):c.673_696dup (p.Glu232_Ile233insLeuAlaThrLeuSerGluGluGlu)
|
|
|
NM_004990.4(MARS1):c.67C>G (p.Arg23Gly)
|
rs2139993470
|
|
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
|
|
|
NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del)
|
|
|
NM_004990.4(MARS1):c.68G>A (p.Arg23Gln)
|
rs1247809884
|
|
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
|
rs755863042
|
|
NM_004990.4(MARS1):c.703A>G (p.Met235Val)
|
|
|
NM_004990.4(MARS1):c.709G>A (p.Val237Ile)
|
|
|
NM_004990.4(MARS1):c.712dup (p.Thr238fs)
|
|
|
NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)
|
|
|
NM_004990.4(MARS1):c.72C>T (p.Gly24=)
|
rs1320124519
|
|
NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)
|
|
|
NM_004990.4(MARS1):c.743C>T (p.Pro248Leu)
|
|
|
NM_004990.4(MARS1):c.764A>G (p.Asn255Ser)
|
|
|
NM_004990.4(MARS1):c.770+18_770+19del
|
|
|
NM_004990.4(MARS1):c.770+19T>C
|
|
|
NM_004990.4(MARS1):c.771-10T>G
|
|
|
NM_004990.4(MARS1):c.771-13C>G
|
rs764820016
|
|
NM_004990.4(MARS1):c.789A>C (p.Glu263Asp)
|
|
|
NM_004990.4(MARS1):c.804C>G (p.Ile268Met)
|
rs1421551773
|
|
NM_004990.4(MARS1):c.822C>T (p.Tyr274=)
|
|
|
NM_004990.4(MARS1):c.849C>T (p.Asn283=)
|
|
|
NM_004990.4(MARS1):c.867C>T (p.Leu289=)
|
rs764870776
|
|
NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)
|
|
|
NM_004990.4(MARS1):c.873C>G (p.Ala291=)
|
rs79531790
|
|
NM_004990.4(MARS1):c.873C>T (p.Ala291=)
|
rs79531790
|
|
NM_004990.4(MARS1):c.874G>C (p.Asp292His)
|
|
|
NM_004990.4(MARS1):c.875A>G (p.Asp292Gly)
|
|
|
NM_004990.4(MARS1):c.886A>T (p.Arg296Trp)
|
|
|
NM_004990.4(MARS1):c.887+16C>G
|
rs767628528
|
|
NM_004990.4(MARS1):c.887+17G>A
|
rs201259473
|
|
NM_004990.4(MARS1):c.887+17G>C
|
rs201259473
|
|
NM_004990.4(MARS1):c.887+5A>G
|
rs1565643835
|
|
NM_004990.4(MARS1):c.888-14A>G
|
|
|
NM_004990.4(MARS1):c.888-17A>G
|
rs762403976
|
|
NM_004990.4(MARS1):c.888-5T>C
|
|
|
NM_004990.4(MARS1):c.888-7C>T
|
|
|
NM_004990.4(MARS1):c.890A>C (p.Tyr297Ser)
|
rs1876748489
|
|
NM_004990.4(MARS1):c.895C>T (p.Arg299Cys)
|
|
|
NM_004990.4(MARS1):c.896G>A (p.Arg299His)
|
|
|
NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)
|
|
|
NM_004990.4(MARS1):c.902G>A (p.Arg301His)
|
|
|
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs)
|
rs1555166943
|
|
NM_004990.4(MARS1):c.907T>C (p.Trp303Arg)
|
|
|
NM_004990.4(MARS1):c.918C>T (p.Leu306=)
|
|
|
NM_004990.4(MARS1):c.960C>A (p.Thr320=)
|
|
|
NM_004990.4(MARS1):c.965C>T (p.Ala322Val)
|
|
|
NM_004990.4(MARS1):c.966T>C (p.Ala322=)
|
|
|
NM_004990.4(MARS1):c.971A>G (p.Glu324Gly)
|
|
|
NM_004990.4(MARS1):c.972G>A (p.Glu324=)
|
|
|
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
|
rs145260922
|
|
NM_004990.4(MARS1):c.989A>C (p.Gln330Pro)
|
rs747834192
|
|
NM_004990.4(MARS1):c.995T>C (p.Ile332Thr)
|
|
|
NM_004990.4(MARS1):c.996C>G (p.Ile332Met)
|
|
|
NM_005391.5(PDK3):c.*5C>T
|
|
|
NM_005391.5(PDK3):c.*7A>G
|
|
|
NM_005391.5(PDK3):c.1028A>C (p.Lys343Thr)
|
rs2148203320
|
|
NM_005391.5(PDK3):c.1032G>A (p.Leu344=)
|
|
|
NM_005391.5(PDK3):c.1032_1033del (p.Tyr345fs)
|
|
|
NM_005391.5(PDK3):c.1045G>A (p.Gly349Arg)
|
|
|
NM_005391.5(PDK3):c.106+11G>A
|
|
|
NM_005391.5(PDK3):c.106+18G>C
|
|
|
NM_005391.5(PDK3):c.1065C>G (p.Val355=)
|
|
|
NM_005391.5(PDK3):c.1065C>T (p.Val355=)
|
rs771588514
|
|
NM_005391.5(PDK3):c.1077+12del
|
rs1922655377
|
|
NM_005391.5(PDK3):c.1077+13A>T
|
|
|
NM_005391.5(PDK3):c.1077+13_1077+16del
|
rs1046476039
|
|
NM_005391.5(PDK3):c.1077+2T>G
|
|
|
NM_005391.5(PDK3):c.1077+7C>A
|
rs1254633549
|
|
NM_005391.5(PDK3):c.1078-3_1078-2dup
|
rs2148204260
|
|
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val)
|
rs1569228203
|
|
NM_005391.5(PDK3):c.1087dup (p.Ser363fs)
|
rs1569228214
|
|
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
|
rs1922715042
|
|
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
|
rs1922715462
|
|
NM_005391.5(PDK3):c.1159G>A (p.Asp387Asn)
|
|
|
NM_005391.5(PDK3):c.1161T>C (p.Asp387=)
|
rs2148204324
|
|
NM_005391.5(PDK3):c.1193A>G (p.Asp398Gly)
|
|
|
NM_005391.5(PDK3):c.1202A>G (p.Lys401Arg)
|
rs371788046
|
|
NM_005391.5(PDK3):c.1213A>G (p.Lys405Glu)
|
|
|
NM_005391.5(PDK3):c.1217del (p.Gln406fs)
|
|
|
NM_005391.5(PDK3):c.1218dup (p.Ter407ValextTer?)
|
rs2148204361
|
|
NM_005391.5(PDK3):c.132_134del (p.Ser45del)
|
|
|
NM_005391.5(PDK3):c.137A>G (p.Tyr46Cys)
|
rs2148188298
|
|
NM_005391.5(PDK3):c.138T>C (p.Tyr46=)
|
|
|
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
|
rs1940054079
|
|
NM_005391.5(PDK3):c.149_158dup (p.Pro54fs)
|
|
|
NM_005391.5(PDK3):c.180A>G (p.Thr60=)
|
|
|
NM_005391.5(PDK3):c.18G>C (p.Trp6Cys)
|
rs2148176546
|
|
NM_005391.5(PDK3):c.217_226del (p.Asn73fs)
|
|
|
NM_005391.5(PDK3):c.220C>T (p.Arg74Cys)
|
|
|
NM_005391.5(PDK3):c.221G>A (p.Arg74His)
|
|
|
NM_005391.5(PDK3):c.223C>A (p.Pro75Thr)
|
rs2148188335
|
|
NM_005391.5(PDK3):c.23T>C (p.Leu8Pro)
|
|
|
NM_005391.5(PDK3):c.248+3A>G
|
|
|
NM_005391.5(PDK3):c.249-15T>C
|
|
|
NM_005391.5(PDK3):c.249-8C>T
|
rs1231289510
|
|
NM_005391.5(PDK3):c.249-9del
|
rs374771377
|
|
NM_005391.5(PDK3):c.293G>A (p.Ser98Asn)
|
|
|
NM_005391.5(PDK3):c.302A>G (p.Asp101Gly)
|
|
|
NM_005391.5(PDK3):c.308A>G (p.Gln103Arg)
|
rs2148190126
|
|
NM_005391.5(PDK3):c.316G>A (p.Asp106Asn)
|
|
|
NM_005391.5(PDK3):c.321-11C>T
|
|
|
NM_005391.5(PDK3):c.321-3C>T
|
|
|
NM_005391.5(PDK3):c.327A>G (p.Leu109=)
|
rs187938221
|
|
NM_005391.5(PDK3):c.335T>C (p.Leu112Pro)
|
rs2148191720
|
|
NM_005391.5(PDK3):c.340A>G (p.Lys114Glu)
|
|
|
NM_005391.5(PDK3):c.355C>T (p.His119Tyr)
|
|
|
NM_005391.5(PDK3):c.382C>A (p.Gln128Lys)
|
|
|
NM_005391.5(PDK3):c.382C>G (p.Gln128Glu)
|
|
|
NM_005391.5(PDK3):c.392T>C (p.Ile131Thr)
|
|
|
NM_005391.5(PDK3):c.402G>A (p.Lys134=)
|
|
|
NM_005391.5(PDK3):c.42G>C (p.Lys14Asn)
|
|
|
NM_005391.5(PDK3):c.434C>G (p.Thr145Ser)
|
|
|
NM_005391.5(PDK3):c.472C>G (p.Arg158Gly)
|
|
|
NM_005391.5(PDK3):c.473G>A (p.Arg158His)
|
rs397515323
|
|
NM_005391.5(PDK3):c.485G>A (p.Arg162His)
|
rs867468579
|
|
NM_005391.5(PDK3):c.49G>C (p.Glu17Gln)
|
rs2148176569
|
|
NM_005391.5(PDK3):c.505+3A>T
|
rs1921912997
|
|
NM_005391.5(PDK3):c.567C>T (p.Pro189=)
|
|
|
NM_005391.5(PDK3):c.577G>C (p.Val193Leu)
|
rs764909872
|
|
NM_005391.5(PDK3):c.595+20G>A
|
rs2148192422
|
|
NM_005391.5(PDK3):c.596A>G (p.Asp199Gly)
|
|
|
NM_005391.5(PDK3):c.597del (p.Asp199fs)
|
rs1569225940
|
|
NM_005391.5(PDK3):c.608C>G (p.Thr203Arg)
|
rs1555949588
|
|
NM_005391.5(PDK3):c.674-18T>C
|
|
|
NM_005391.5(PDK3):c.674-5T>G
|
rs2148201118
|
|
NM_005391.5(PDK3):c.681G>A (p.Ala227=)
|
|
|
NM_005391.5(PDK3):c.707A>G (p.Tyr236Cys)
|
rs2148201163
|
|
NM_005391.5(PDK3):c.750+18A>G
|
|
|
NM_005391.5(PDK3):c.750+20C>T
|
|
|
NM_005391.5(PDK3):c.751-13C>A
|
|
|
NM_005391.5(PDK3):c.780T>C (p.Tyr260=)
|
|
|
NM_005391.5(PDK3):c.816C>A (p.Thr272=)
|
rs1393564034
|
|
NM_005391.5(PDK3):c.852+18A>G
|
|
|
NM_005391.5(PDK3):c.853-4G>A
|
|
|
NM_005391.5(PDK3):c.86T>A (p.Ile29Asn)
|
|
|
NM_005391.5(PDK3):c.895C>T (p.Arg299Cys)
|
|
|
NM_005391.5(PDK3):c.896G>A (p.Arg299His)
|
|
|
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
|
rs1922567942
|
|
NM_005391.5(PDK3):c.963+14A>C
|
rs2148201960
|
|
NM_005391.5(PDK3):c.974G>T (p.Gly325Val)
|
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)
|
rs794728612
|
|
NM_006096.4(NDRG1):c.100-12G>A
|
|
|
NM_006096.4(NDRG1):c.100-20T>C
|
|
|
NM_006096.4(NDRG1):c.100-23_100-17del
|
|
|
NM_006096.4(NDRG1):c.100-5C>T
|
rs1856826865
|
|
NM_006096.4(NDRG1):c.100-6C>T
|
rs1586451965
|
|
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
|
rs568119325
|
|
NM_006096.4(NDRG1):c.1002C>T (p.Val334=)
|
rs1855233290
|
|
NM_006096.4(NDRG1):c.1008T>C (p.Ser336=)
|
|
|
NM_006096.4(NDRG1):c.1009C>T (p.Leu337=)
|
|
|
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)
|
rs1287183324
|
|
NM_006096.4(NDRG1):c.1020C>T (p.Thr340=)
|
rs2130656201
|
|
NM_006096.4(NDRG1):c.1021C>T (p.Arg341Cys)
|
|
|
NM_006096.4(NDRG1):c.1023C>A (p.Arg341=)
|
|
|
NM_006096.4(NDRG1):c.1023CAGCCGCTCCCACACCAGCGAGGGCACCCG[3] (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGly)
|
|
|
NM_006096.4(NDRG1):c.1023_1052dup (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGly)
|
|
|
NM_006096.4(NDRG1):c.1029C>T (p.Arg343=)
|
|
|
NM_006096.4(NDRG1):c.1032_1091del (p.340TRSRSHTSEG[1])
|
rs1554747479
|
|
NM_006096.4(NDRG1):c.1035C>T (p.His345=)
|
rs2130656081
|
|
NM_006096.4(NDRG1):c.1038C>A (p.Thr346=)
|
rs1198581271
|
|
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
|
rs1467447359
|
|
NM_006096.4(NDRG1):c.1042G>C (p.Glu348Gln)
|
rs775650624
|
|
NM_006096.4(NDRG1):c.1043A>G (p.Glu348Gly)
|
rs2130656034
|
|
NM_006096.4(NDRG1):c.1047_1106del (p.340TRSRSHTSEG[1])
|
rs1855219414
|
|
NM_006096.4(NDRG1):c.1050C>T (p.Thr350=)
|
|
|
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])
|
rs751274009
|
|
NM_006096.4(NDRG1):c.1058G>A (p.Arg353His)
|
|
|
NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2])
|
rs763499117
|
|
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4])
|
rs763499117
|
|
NM_006096.4(NDRG1):c.1066A>G (p.Thr356Ala)
|
rs111835070
|
|
NM_006096.4(NDRG1):c.1071C>T (p.Ser357=)
|
|
|
NM_006096.4(NDRG1):c.1072G>A (p.Glu358Lys)
|
rs2130655766
|
|
NM_006096.4(NDRG1):c.1076G>A (p.Gly359Asp)
|
rs144379016
|
|
NM_006096.4(NDRG1):c.1077_1106del (p.340TRSRSHTSEG[2])
|
rs1554747463
|
|
NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4])
|
rs1554747463
|
|
NM_006096.4(NDRG1):c.1080C>T (p.Thr360=)
|
|
|
NM_006096.4(NDRG1):c.1083C>A (p.Arg361=)
|
rs541812355
|
|
NM_006096.4(NDRG1):c.1086C>T (p.Ser362=)
|
rs1189614460
|
|
NM_006096.4(NDRG1):c.1089C>T (p.Arg363=)
|
rs1855222014
|
|
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=)
|
rs578199680
|
|
NM_006096.4(NDRG1):c.1092G>C (p.Ser364=)
|
rs578199680
|
|
NM_006096.4(NDRG1):c.1095C>T (p.His365=)
|
rs1278753145
|
|
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys)
|
rs1857979450
|
|
NM_006096.4(NDRG1):c.1102G>A (p.Glu368Lys)
|
|
|
NM_006096.4(NDRG1):c.1105G>C (p.Gly369Arg)
|
|
|
NM_006096.4(NDRG1):c.1107G>A (p.Gly369=)
|
|
|
NM_006096.4(NDRG1):c.1107G>T (p.Gly369=)
|
|
|
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.1112_1114delinsTTT (p.His371Leu)
|
rs1554747447
|
|
NM_006096.4(NDRG1):c.1116G>T (p.Leu372=)
|
|
|
NM_006096.4(NDRG1):c.1132T>C (p.Ser378Pro)
|
|
|
NM_006096.4(NDRG1):c.1144G>A (p.Gly382Arg)
|
|
|
NM_006096.4(NDRG1):c.1150A>C (p.Ser384Arg)
|
|
|
NM_006096.4(NDRG1):c.1151G>A (p.Ser384Asn)
|
|
|
NM_006096.4(NDRG1):c.1155C>G (p.Ala385=)
|
rs774605205
|
|
NM_006096.4(NDRG1):c.1161C>A (p.Pro387=)
|
|
|
NM_006096.4(NDRG1):c.1161C>G (p.Pro387=)
|
|
|
NM_006096.4(NDRG1):c.1164G>A (p.Lys388=)
|
|
|
NM_006096.4(NDRG1):c.1167C>G (p.Ser389=)
|
|
|
NM_006096.4(NDRG1):c.1171G>A (p.Glu391Lys)
|
rs1413072034
|
|
NM_006096.4(NDRG1):c.1173G>A (p.Glu391=)
|
|
|
NM_006096.4(NDRG1):c.1176C>G (p.Val392=)
|
rs2130655008
|
|
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)
|
rs745669327
|
|
NM_006096.4(NDRG1):c.126C>A (p.Gly42=)
|
|
|
NM_006096.4(NDRG1):c.126C>T (p.Gly42=)
|
|
|
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
|
rs1286565668
|
|
NM_006096.4(NDRG1):c.138C>T (p.Val46=)
|
|
|
NM_006096.4(NDRG1):c.139A>G (p.Thr47Ala)
|
rs2130743246
|
|
NM_006096.4(NDRG1):c.142C>T (p.Leu48=)
|
|
|
NM_006096.4(NDRG1):c.144G>A (p.Leu48=)
|
|
|
NM_006096.4(NDRG1):c.144G>C (p.Leu48=)
|
rs1856822376
|
|
NM_006096.4(NDRG1):c.158A>C (p.Lys53Thr)
|
|
|
NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg)
|
rs140634799
|
|
NM_006096.4(NDRG1):c.162A>G (p.Gly54=)
|
rs751655132
|
|
NM_006096.4(NDRG1):c.168G>T (p.Arg56=)
|
rs2130743140
|
|
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)
|
rs1856819839
|
|
NM_006096.4(NDRG1):c.183C>T (p.Thr61=)
|
|
|
NM_006096.4(NDRG1):c.18G>A (p.Gln6=)
|
rs951266228
|
|
NM_006096.4(NDRG1):c.18G>C (p.Gln6His)
|
|
|
NM_006096.4(NDRG1):c.196G>T (p.Gly66Cys)
|
rs780329667
|
|
NM_006096.4(NDRG1):c.205+10G>A
|
rs2130742953
|
|
NM_006096.4(NDRG1):c.205+1G>C
|
|
|
NM_006096.4(NDRG1):c.205+1G>T
|
rs1060503092
|
|
NM_006096.4(NDRG1):c.205+2T>A
|
rs1586451553
|
|
NM_006096.4(NDRG1):c.205+8C>A
|
|
|
NM_006096.4(NDRG1):c.205+8_205+11del
|
|
|
NM_006096.4(NDRG1):c.206-11C>A
|
|
|
NM_006096.4(NDRG1):c.206-14C>T
|
|
|
NM_006096.4(NDRG1):c.206-16C>T
|
|
|
NM_006096.4(NDRG1):c.206-8T>C
|
rs766314244
|
|
NM_006096.4(NDRG1):c.206-9G>C
|
rs994259747
|
|
NM_006096.4(NDRG1):c.212C>A (p.Thr71Asn)
|
rs1554591949
|
|
NM_006096.4(NDRG1):c.217T>A (p.Tyr73Asn)
|
rs368584363
|
|
NM_006096.4(NDRG1):c.218A>G (p.Tyr73Cys)
|
|
|
NM_006096.4(NDRG1):c.225C>G (p.Pro75=)
|
|
|
NM_006096.4(NDRG1):c.228C>T (p.Leu76=)
|
rs1586446509
|
|
NM_006096.4(NDRG1):c.231C>T (p.Phe77=)
|
rs2130736303
|
|
NM_006096.4(NDRG1):c.250_252del (p.Glu84del)
|
rs1278099164
|
|
NM_006096.4(NDRG1):c.251A>G (p.Glu84Gly)
|
rs1372913345
|
|
NM_006096.4(NDRG1):c.258C>T (p.Thr86=)
|
rs2130736192
|
|
NM_006096.4(NDRG1):c.260A>C (p.Gln87Pro)
|
rs1350908820
|
|
NM_006096.4(NDRG1):c.267T>C (p.Phe89=)
|
|
|
NM_006096.4(NDRG1):c.274T>C (p.Cys92Arg)
|
rs2130736126
|
|
NM_006096.4(NDRG1):c.276C>T (p.Cys92=)
|
rs1272995021
|
|
NM_006096.4(NDRG1):c.297G>A (p.Gln99=)
|
rs2130736044
|
|
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
|
rs2233322
|
|
NM_006096.4(NDRG1):c.307G>T (p.Ala103Ser)
|
rs374160497
|
|
NM_006096.4(NDRG1):c.30C>A (p.Leu10=)
|
rs758205425
|
|
NM_006096.4(NDRG1):c.312C>G (p.Ala104=)
|
|
|
NM_006096.4(NDRG1):c.314C>G (p.Ser105Cys)
|
rs570291930
|
|
NM_006096.4(NDRG1):c.314C>T (p.Ser105Phe)
|
rs570291930
|
|
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser)
|
rs1856684767
|
|
NM_006096.4(NDRG1):c.321C>G (p.Pro107=)
|
rs1403681249
|
|
NM_006096.4(NDRG1):c.326+12C>T
|
|
|
NM_006096.4(NDRG1):c.326+13T>A
|
|
|
NM_006096.4(NDRG1):c.326+14T>C
|
|
|
NM_006096.4(NDRG1):c.326+1G>A
|
rs1586446057
|
|
NM_006096.4(NDRG1):c.326+20A>G
|
|
|
NM_006096.4(NDRG1):c.326+4AG[3]
|
rs2130735865
|
|
NM_006096.4(NDRG1):c.326+5G>C
|
|
|
NM_006096.4(NDRG1):c.326+8G>T
|
|
|
NM_006096.4(NDRG1):c.326+9C>G
|
|
|
NM_006096.4(NDRG1):c.327-13G>C
|
|
|
NM_006096.4(NDRG1):c.327-19T>G
|
|
|
NM_006096.4(NDRG1):c.327-20C>T
|
|
|
NM_006096.4(NDRG1):c.327-4C>G
|
|
|
NM_006096.4(NDRG1):c.327-5C>T
|
|
|
NM_006096.4(NDRG1):c.328T>C (p.Tyr110His)
|
rs1586440110
|
|
NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)
|
|
|
NM_006096.4(NDRG1):c.332T>G (p.Met111Arg)
|
|
|
NM_006096.4(NDRG1):c.339C>G (p.Pro113=)
|
|
|
NM_006096.4(NDRG1):c.339C>T (p.Pro113=)
|
rs1724822357
|
|
NM_006096.4(NDRG1):c.340T>A (p.Ser114Thr)
|
|
|
NM_006096.4(NDRG1):c.342C>G (p.Ser114=)
|
|
|
NM_006096.4(NDRG1):c.343A>G (p.Met115Val)
|
|
|
NM_006096.4(NDRG1):c.347A>T (p.Asp116Val)
|
rs2130727469
|
|
NM_006096.4(NDRG1):c.350A>T (p.Gln117Leu)
|
rs2130727461
|
|
NM_006096.4(NDRG1):c.351G>A (p.Gln117=)
|
rs2130727456
|
|
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro)
|
rs1856537884
|
|
NM_006096.4(NDRG1):c.368del (p.Pro123fs)
|
rs2130727371
|
|
NM_006096.4(NDRG1):c.378T>C (p.Leu126=)
|
|
|
NM_006096.4(NDRG1):c.380A>G (p.Gln127Arg)
|
|
|
NM_006096.4(NDRG1):c.381A>G (p.Gln127=)
|
|
|
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
|
rs574238421
|
|
NM_006096.4(NDRG1):c.389+17A>G
|
|
|
NM_006096.4(NDRG1):c.389+18G>C
|
|
|
NM_006096.4(NDRG1):c.389G>A (p.Gly130Glu)
|
rs759258704
|
|
NM_006096.4(NDRG1):c.390-16G>T
|
|
|
NM_006096.4(NDRG1):c.390-19T>C
|
|
|
NM_006096.4(NDRG1):c.390-20A>G
|
|
|
NM_006096.4(NDRG1):c.390-5T>C
|
|
|
NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)
|
|
|
NM_006096.4(NDRG1):c.410T>C (p.Met137Thr)
|
rs1856491809
|
|
NM_006096.4(NDRG1):c.416C>G (p.Thr139Arg)
|
rs863224745
|
|
NM_006096.4(NDRG1):c.417A>G (p.Thr139=)
|
|
|
NM_006096.4(NDRG1):c.426C>T (p.Gly142=)
|
rs370604799
|
|
NM_006096.4(NDRG1):c.429C>T (p.Ala143=)
|
|
|
NM_006096.4(NDRG1):c.432C>T (p.Tyr144=)
|
rs535684670
|
|
NM_006096.4(NDRG1):c.448G>A (p.Ala150Thr)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.450+10T>G
|
|
|
NM_006096.4(NDRG1):c.450+12G>C
|
|
|
NM_006096.4(NDRG1):c.450+14C>T
|
|
|
NM_006096.4(NDRG1):c.450+2_450+3del
|
rs1856488064
|
|
NM_006096.4(NDRG1):c.450+8C>T
|
|
|
NM_006096.4(NDRG1):c.450+9T>C
|
rs1177638934
|
|
NM_006096.4(NDRG1):c.451-14G>A
|
|
|
NM_006096.4(NDRG1):c.451-14G>T
|
|
|
NM_006096.4(NDRG1):c.451-20C>G
|
|
|
NM_006096.4(NDRG1):c.451-7A>T
|
|
|
NM_006096.4(NDRG1):c.453A>G (p.Leu151=)
|
rs776744445
|
|
NM_006096.4(NDRG1):c.455A>C (p.Asn152Thr)
|
|
|
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)
|
rs760921567
|
|
NM_006096.4(NDRG1):c.468G>A (p.Met156Ile)
|
rs1856402568
|
|
NM_006096.4(NDRG1):c.469G>A (p.Val157Met)
|
|
|
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser)
|
rs1857976213
|
|
NM_006096.4(NDRG1):c.483C>A (p.Val161=)
|
|
|
NM_006096.4(NDRG1):c.483C>G (p.Val161=)
|
rs778902905
|
|
NM_006096.4(NDRG1):c.486T>C (p.Leu162=)
|
|
|
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)
|
rs1856400076
|
|
NM_006096.4(NDRG1):c.4T>C (p.Ser2Pro)
|
rs781381539
|
|
NM_006096.4(NDRG1):c.501T>C (p.Pro167=)
|
rs2130719778
|
|
NM_006096.4(NDRG1):c.501T>G (p.Pro167=)
|
rs2130719778
|
|
NM_006096.4(NDRG1):c.506C>T (p.Ala169Val)
|
rs963190299
|
|
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu)
|
rs1857975791
|
|
NM_006096.4(NDRG1):c.510_511insTGTGTGGA (p.Gly171fs)
|
|
|
NM_006096.4(NDRG1):c.518_521dup (p.Trp175fs)
|
rs2130719686
|
|
NM_006096.4(NDRG1):c.521A>T (p.Asp174Val)
|
|
|
NM_006096.4(NDRG1):c.523T>C (p.Trp175Arg)
|
rs1586434783
|
|
NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.528C>G (p.Ala176=)
|
rs191237702
|
|
NM_006096.4(NDRG1):c.529G>A (p.Ala177Thr)
|
rs753878542
|
|
NM_006096.4(NDRG1):c.52G>A (p.Glu18Lys)
|
|
|
NM_006096.4(NDRG1):c.537+16G>A
|
|
|
NM_006096.4(NDRG1):c.537+1G>T
|
|
|
NM_006096.4(NDRG1):c.537+6dup
|
|
|
NM_006096.4(NDRG1):c.537+7T>G
|
|
|
NM_006096.4(NDRG1):c.537+8G>T
|
rs537844639
|
|
NM_006096.4(NDRG1):c.538-5T>A
|
rs1175681774
|
|
NM_006096.4(NDRG1):c.538-8C>T
|
|
|
NM_006096.4(NDRG1):c.538-9C>T
|
rs978424192
|
|
NM_006096.4(NDRG1):c.543A>G (p.Ser181=)
|
|
|
NM_006096.4(NDRG1):c.543A>T (p.Ser181=)
|
|
|
NM_006096.4(NDRG1):c.552C>G (p.Thr184=)
|
rs2130712948
|
|
NM_006096.4(NDRG1):c.555A>G (p.Gln185=)
|
|
|
NM_006096.4(NDRG1):c.561G>A (p.Leu187=)
|
rs2130712881
|
|
NM_006096.4(NDRG1):c.567C>T (p.Asp189=)
|
|
|
NM_006096.4(NDRG1):c.573G>A (p.Val191=)
|
|
|
NM_006096.4(NDRG1):c.579C>T (p.Ser193=)
|
rs1586430771
|
|
NM_006096.4(NDRG1):c.584T>A (p.Leu195His)
|
rs1856262402
|
|
NM_006096.4(NDRG1):c.594+10G>A
|
rs751843731
|
|
NM_006096.4(NDRG1):c.594+12G>C
|
|
|
NM_006096.4(NDRG1):c.595-10C>A
|
rs2130698932
|
|
NM_006096.4(NDRG1):c.595-13T>G
|
|
|
NM_006096.4(NDRG1):c.595-14C>G
|
|
|
NM_006096.4(NDRG1):c.595-15C>T
|
|
|
NM_006096.4(NDRG1):c.595-16A>G
|
|
|
NM_006096.4(NDRG1):c.595-17C>T
|
|
|
NM_006096.4(NDRG1):c.595-2A>T
|
rs758718584
|
|
NM_006096.4(NDRG1):c.595-6A>G
|
rs1554749794
|
|
NM_006096.4(NDRG1):c.601A>G (p.Met201Val)
|
|
|
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)
|
rs1855957969
|
|
NM_006096.4(NDRG1):c.605A>C (p.Gln202Pro)
|
|
|
NM_006096.4(NDRG1):c.606G>A (p.Gln202=)
|
rs2130698846
|
|
NM_006096.4(NDRG1):c.609T>C (p.Ser203=)
|
|
|
NM_006096.4(NDRG1):c.627C>T (p.His209=)
|
rs1219241276
|
|
NM_006096.4(NDRG1):c.63+19G>C
|
|
|
NM_006096.4(NDRG1):c.63+7G>A
|
rs1857974705
|
|
NM_006096.4(NDRG1):c.63+8G>A
|
rs907196948
|
|
NM_006096.4(NDRG1):c.63+9A>C
|
rs2130794843
|
|
NM_006096.4(NDRG1):c.636C>T (p.Arg212=)
|
rs2130698716
|
|
NM_006096.4(NDRG1):c.63G>A (p.Glu21=)
|
|
|
NM_006096.4(NDRG1):c.64-10C>G
|
rs1857714894
|
|
NM_006096.4(NDRG1):c.64-12G>T
|
|
|
NM_006096.4(NDRG1):c.64-20T>C
|
|
|
NM_006096.4(NDRG1):c.64-20dup
|
rs756038946
|
|
NM_006096.4(NDRG1):c.641del (p.His214fs)
|
|
|
NM_006096.4(NDRG1):c.642C>T (p.His214=)
|
rs567996488
|
|
NM_006096.4(NDRG1):c.646G>T (p.Val216Leu)
|
|
|
NM_006096.4(NDRG1):c.648G>A (p.Val216=)
|
rs2130698643
|
|
NM_006096.4(NDRG1):c.650A>G (p.Asn217Ser)
|
|
|
NM_006096.4(NDRG1):c.651T>C (p.Asn217=)
|
rs1586421765
|
|
NM_006096.4(NDRG1):c.663C>G (p.Pro221=)
|
rs377225752
|
|
NM_006096.4(NDRG1):c.666C>A (p.Gly222=)
|
rs1432095364
|
|
NM_006096.4(NDRG1):c.66C>A (p.Thr22=)
|
rs750023131
|
|
NM_006096.4(NDRG1):c.66C>G (p.Thr22=)
|
rs750023131
|
|
NM_006096.4(NDRG1):c.676C>T (p.Leu226=)
|
rs1158911089
|
|
NM_006096.4(NDRG1):c.678G>A (p.Leu226=)
|
rs1398835960
|
|
NM_006096.4(NDRG1):c.67A>G (p.Ile23Val)
|
|
|
NM_006096.4(NDRG1):c.687T>C (p.Asn229=)
|
rs2130698426
|
|
NM_006096.4(NDRG1):c.690C>G (p.Ala230=)
|
|
|
NM_006096.4(NDRG1):c.698+10T>C
|
rs1330639454
|
|
NM_006096.4(NDRG1):c.698+11G>A
|
|
|
NM_006096.4(NDRG1):c.698+12T>C
|
|
|
NM_006096.4(NDRG1):c.698+14G>A
|
|
|
NM_006096.4(NDRG1):c.698+5T>G
|
|
|
NM_006096.4(NDRG1):c.698+6G>T
|
|
|
NM_006096.4(NDRG1):c.698+7G>T
|
rs2130698384
|
|
NM_006096.4(NDRG1):c.698+8G>A
|
|
|
NM_006096.4(NDRG1):c.699-11G>A
|
|
|
NM_006096.4(NDRG1):c.699-11G>T
|
|
|
NM_006096.4(NDRG1):c.699-13_699-12del
|
|
|
NM_006096.4(NDRG1):c.699-15A>G
|
|
|
NM_006096.4(NDRG1):c.699-16C>T
|
|
|
NM_006096.4(NDRG1):c.699-18T>A
|
rs2130692819
|
|
NM_006096.4(NDRG1):c.699-19A>C
|
|
|
NM_006096.4(NDRG1):c.699-19del
|
|
|
NM_006096.4(NDRG1):c.699-1G>A
|
|
|
NM_006096.4(NDRG1):c.699-2A>C
|
|
|
NM_006096.4(NDRG1):c.699-6C>A
|
|
|
NM_006096.4(NDRG1):c.699-8T>G
|
rs2130692792
|
|
NM_006096.4(NDRG1):c.699-8del
|
|
|
NM_006096.4(NDRG1):c.6T>C (p.Ser2=)
|
|
|
NM_006096.4(NDRG1):c.702G>A (p.Arg234=)
|
rs547082017
|
|
NM_006096.4(NDRG1):c.705C>A (p.Arg235=)
|
rs528436514
|
|
NM_006096.4(NDRG1):c.714G>A (p.Glu238=)
|
|
|
NM_006096.4(NDRG1):c.721C>T (p.Arg241Ter)
|
|
|
NM_006096.4(NDRG1):c.723A>T (p.Arg241=)
|
|
|
NM_006096.4(NDRG1):c.726A>G (p.Pro242=)
|
|
|
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser)
|
rs1187584644
|
|
NM_006096.4(NDRG1):c.738C>T (p.Thr246=)
|
rs2130692512
|
|
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys)
|
rs377527660
|
|
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala)
|
rs1276502410
|
|
NM_006096.4(NDRG1):c.750C>G (p.Thr250=)
|
rs1855837777
|
|
NM_006096.4(NDRG1):c.753G>A (p.Leu251=)
|
|
|
NM_006096.4(NDRG1):c.753G>C (p.Leu251=)
|
|
|
NM_006096.4(NDRG1):c.755+12T>A
|
|
|
NM_006096.4(NDRG1):c.755+12T>C
|
|
|
NM_006096.4(NDRG1):c.755+15T>C
|
|
|
NM_006096.4(NDRG1):c.755+16C>T
|
|
|
NM_006096.4(NDRG1):c.755+18C>T
|
|
|
NM_006096.4(NDRG1):c.755+1G>A
|
rs2130692394
|
|
NM_006096.4(NDRG1):c.755+7G>T
|
|
|
NM_006096.4(NDRG1):c.756-11C>T
|
|
|
NM_006096.4(NDRG1):c.756-13T>C
|
rs1855783791
|
|
NM_006096.4(NDRG1):c.756-15dup
|
|
|
NM_006096.4(NDRG1):c.756-16C>T
|
|
|
NM_006096.4(NDRG1):c.756-19G>T
|
|
|
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr)
|
rs1855781697
|
|
NM_006096.4(NDRG1):c.759C>T (p.Cys253=)
|
rs2130689408
|
|
NM_006096.4(NDRG1):c.75C>T (p.Gly25=)
|
|
|
NM_006096.4(NDRG1):c.761C>T (p.Pro254Leu)
|
|
|
NM_006096.4(NDRG1):c.770T>C (p.Leu257Ser)
|
|
|
NM_006096.4(NDRG1):c.775G>A (p.Val259Ile)
|
|
|
NM_006096.4(NDRG1):c.776T>C (p.Val259Ala)
|
rs201759485
|
|
NM_006096.4(NDRG1):c.783C>T (p.Asp261=)
|
rs2130689282
|
|
NM_006096.4(NDRG1):c.792T>G (p.Pro264=)
|
rs377529002
|
|
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val)
|
rs1855777702
|
|
NM_006096.4(NDRG1):c.79C>T (p.Leu27=)
|
rs2130785611
|
|
NM_006096.4(NDRG1):c.800A>G (p.Asp267Gly)
|
rs1287073036
|
|
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser)
|
rs752290896
|
|
NM_006096.4(NDRG1):c.804C>A (p.Ala268=)
|
rs754704497
|
|
NM_006096.4(NDRG1):c.807+12T>G
|
rs1435241843
|
|
NM_006096.4(NDRG1):c.807+13C>T
|
|
|
NM_006096.4(NDRG1):c.807+16A>G
|
|
|
NM_006096.4(NDRG1):c.807+18C>T
|
|
|
NM_006096.4(NDRG1):c.808-11C>T
|
|
|
NM_006096.4(NDRG1):c.808-13C>T
|
|
|
NM_006096.4(NDRG1):c.808-16C>T
|
|
|
NM_006096.4(NDRG1):c.808-2A>G
|
rs112360093
|
|
NM_006096.4(NDRG1):c.808-7T>C
|
|
|
NM_006096.4(NDRG1):c.808-9C>T
|
|
|
NM_006096.4(NDRG1):c.818A>G (p.Asn273Ser)
|
|
|
NM_006096.4(NDRG1):c.826T>C (p.Leu276=)
|
rs2130685069
|
|
NM_006096.4(NDRG1):c.835A>G (p.Thr279Ala)
|
|
|
NM_006096.4(NDRG1):c.837A>G (p.Thr279=)
|
rs2130685014
|
|
NM_006096.4(NDRG1):c.840G>A (p.Lys280=)
|
|
|
NM_006096.4(NDRG1):c.842C>A (p.Thr281Asn)
|
|
|
NM_006096.4(NDRG1):c.845C>G (p.Thr282Ser)
|
rs1449128690
|
|
NM_006096.4(NDRG1):c.849C>T (p.Leu283=)
|
rs1017838840
|
|
NM_006096.4(NDRG1):c.855+13C>T
|
|
|
NM_006096.4(NDRG1):c.855+14A>G
|
|
|
NM_006096.4(NDRG1):c.855+16T>A
|
|
|
NM_006096.4(NDRG1):c.855+16T>C
|
|
|
NM_006096.4(NDRG1):c.855+20G>T
|
|
|
NM_006096.4(NDRG1):c.855+2T>C
|
|
|
NM_006096.4(NDRG1):c.855+4C>G
|
rs1045595033
|
|
NM_006096.4(NDRG1):c.856-11C>G
|
|
|
NM_006096.4(NDRG1):c.856-13C>G
|
|
|
NM_006096.4(NDRG1):c.856-19G>A
|
|
|
NM_006096.4(NDRG1):c.856-20C>G
|
|
|
NM_006096.4(NDRG1):c.856-20C>T
|
|
|
NM_006096.4(NDRG1):c.856-5C>T
|
rs767437478
|
|
NM_006096.4(NDRG1):c.856-7C>A
|
rs2130676501
|
|
NM_006096.4(NDRG1):c.856-7C>G
|
|
|
NM_006096.4(NDRG1):c.856-8T>A
|
rs2130676510
|
|
NM_006096.4(NDRG1):c.856-9C>G
|
rs772996128
|
|
NM_006096.4(NDRG1):c.856-9C>T
|
rs772996128
|
|
NM_006096.4(NDRG1):c.863_872del (p.Asp288fs)
|
|
|
NM_006096.4(NDRG1):c.866_875del (p.Cys289fs)
|
rs2130676399
|
|
NM_006096.4(NDRG1):c.871G>A (p.Gly291Ser)
|
|
|
NM_006096.4(NDRG1):c.873C>G (p.Gly291=)
|
rs769421428
|
|
NM_006096.4(NDRG1):c.879G>T (p.Pro293=)
|
rs2233340
|
|
NM_006096.4(NDRG1):c.87G>A (p.Glu29=)
|
|
|
NM_006096.4(NDRG1):c.891+10A>G
|
rs1855548442
|
|
NM_006096.4(NDRG1):c.891+13T>G
|
|
|
NM_006096.4(NDRG1):c.891+2T>C
|
rs1586407193
|
|
NM_006096.4(NDRG1):c.892-11G>A
|
rs1855418193
|
|
NM_006096.4(NDRG1):c.892-15C>G
|
|
|
NM_006096.4(NDRG1):c.892-15C>T
|
|
|
NM_006096.4(NDRG1):c.892-17C>G
|
|
|
NM_006096.4(NDRG1):c.892-9C>T
|
rs987790520
|
|
NM_006096.4(NDRG1):c.892C>T (p.Pro298Ser)
|
|
|
NM_006096.4(NDRG1):c.894G>C (p.Pro298=)
|
|
|
NM_006096.4(NDRG1):c.906T>C (p.Ala302=)
|
|
|
NM_006096.4(NDRG1):c.906T>G (p.Ala302=)
|
rs572270834
|
|
NM_006096.4(NDRG1):c.927G>T (p.Val309=)
|
rs770527044
|
|
NM_006096.4(NDRG1):c.943+19G>A
|
rs113140810
|
|
NM_006096.4(NDRG1):c.943+19G>T
|
rs113140810
|
|
NM_006096.4(NDRG1):c.943+5G>A
|
rs778982295
|
|
NM_006096.4(NDRG1):c.943+7dup
|
rs2130667511
|
|
NM_006096.4(NDRG1):c.944-17G>A
|
|
|
NM_006096.4(NDRG1):c.944-20G>T
|
rs2130656881
|
|
NM_006096.4(NDRG1):c.944-4C>G
|
|
|
NM_006096.4(NDRG1):c.944-6C>T
|
rs1588216759
|
|
NM_006096.4(NDRG1):c.944-7C>A
|
|
|
NM_006096.4(NDRG1):c.944-7C>T
|
|
|
NM_006096.4(NDRG1):c.948C>A (p.Pro316=)
|
rs1001191483
|
|
NM_006096.4(NDRG1):c.948C>T (p.Pro316=)
|
rs1001191483
|
|
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
|
rs1310471207
|
|
NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn)
|
rs1564277421
|
|
NM_006096.4(NDRG1):c.956G>T (p.Ser319Ile)
|
|
|
NM_006096.4(NDRG1):c.963C>A (p.Thr321=)
|
|
|
NM_006096.4(NDRG1):c.963C>G (p.Thr321=)
|
rs1399154074
|
|
NM_006096.4(NDRG1):c.964C>T (p.Arg322Cys)
|
rs368404338
|
|
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu)
|
rs1307068606
|
|
NM_006096.4(NDRG1):c.969G>A (p.Leu323=)
|
|
|
NM_006096.4(NDRG1):c.96C>G (p.Val32=)
|
rs2130785583
|
|
NM_006096.4(NDRG1):c.973C>A (p.Arg325=)
|
rs141078746
|
|
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp)
|
rs141078746
|
|
NM_006096.4(NDRG1):c.980G>A (p.Arg327His)
|
rs565705964
|
|
NM_006096.4(NDRG1):c.980_981delinsTT (p.Arg327Leu)
|
|
|
NM_006096.4(NDRG1):c.983C>T (p.Thr328Ile)
|
|
|
NM_006096.4(NDRG1):c.986C>A (p.Ala329Asp)
|
|
|
NM_006096.4(NDRG1):c.987C>G (p.Ala329=)
|
rs778770054
|
|
NM_006096.4(NDRG1):c.99+10G>A
|
|
|
NM_006096.4(NDRG1):c.99+10G>T
|
rs1210845048
|
|
NM_006096.4(NDRG1):c.99+12A>T
|
|
|
NM_006096.4(NDRG1):c.99+14G>A
|
|
|
NM_006096.4(NDRG1):c.99+18C>A
|
|
|
NM_006096.4(NDRG1):c.99+18C>G
|
|
|
NM_006096.4(NDRG1):c.99+1G>A
|
rs2130785568
|
|
NM_006096.4(NDRG1):c.990T>G (p.Ser330=)
|
rs2130656420
|
|
NM_006158.4(NEFL):c.1414=
|
|
|
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=)
|
rs1060504999
|
|
NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln)
|
|
|
NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr)
|
rs1586127945
|
|
NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)
|
|
|
NM_006158.5(NEFL):c.1026C>A (p.Ala342=)
|
|
|
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)
|
rs973190345
|
|
NM_006158.5(NEFL):c.1032C>G (p.Ile344Met)
|
rs1586127924
|
|
NM_006158.5(NEFL):c.1038T>C (p.Ala346=)
|
rs2117254129
|
|
NM_006158.5(NEFL):c.1044+15G>C
|
|
|
NM_006158.5(NEFL):c.1044+19C>T
|
rs2117254076
|
|
NM_006158.5(NEFL):c.1044+2T>G
|
|
|
NM_006158.5(NEFL):c.1044+9C>A
|
rs757926597
|
|
NM_006158.5(NEFL):c.1044G>A (p.Gln348=)
|
rs1234285997
|
|
NM_006158.5(NEFL):c.1045-14T>C
|
|
|
NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)
|
|
|
NM_006158.5(NEFL):c.104C>T (p.Thr35Ile)
|
|
|
NM_006158.5(NEFL):c.1050G>A (p.Thr350=)
|
|
|
NM_006158.5(NEFL):c.1054A>C (p.Asn352His)
|
rs748970912
|
|
NM_006158.5(NEFL):c.105C>T (p.Thr35=)
|
|
|
NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)
|
|
|
NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys)
|
rs1060503693
|
|
NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser)
|
|
|
NM_006158.5(NEFL):c.1080C>A (p.Thr360=)
|
|
|
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
|
rs1013536878
|
|
NM_006158.5(NEFL):c.108A>G (p.Ala36=)
|
|
|
NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)
|
|
|
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)
|
|
|
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)
|
rs758969477
|
|
NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter)
|
rs757417962
|
|
NM_006158.5(NEFL):c.1124T>A (p.Leu375His)
|
|
|
NM_006158.5(NEFL):c.1125C>T (p.Leu375=)
|
|
|
NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro)
|
|
|
NM_006158.5(NEFL):c.1128C>A (p.Leu376=)
|
|
|
NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr)
|
|
|
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)
|
rs775218507
|
|
NM_006158.5(NEFL):c.114A>T (p.Ser38=)
|
|
|
NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe)
|
|
|
NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln)
|
|
|
NM_006158.5(NEFL):c.1154A>T (p.Glu385Val)
|
rs1563251398
|
|
NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)
|
|
|
NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser)
|
rs2117252327
|
|
NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)
|
|
|
NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys)
|
|
|
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
|
rs1586126978
|
|
NM_006158.5(NEFL):c.1169+20G>T
|
|
|
NM_006158.5(NEFL):c.1169+8T>C
|
rs2117252309
|
|
NM_006158.5(NEFL):c.1170-3C>T
|
rs2117251902
|
|
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu)
|
rs2117251897
|
|
NM_006158.5(NEFL):c.1175T>A (p.Leu392His)
|
rs1554497393
|
|
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe)
|
rs879253927
|
|
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys)
|
rs2117251886
|
|
NM_006158.5(NEFL):c.1185C>G (p.Gly395=)
|
rs751512030
|
|
NM_006158.5(NEFL):c.1185C>T (p.Gly395=)
|
rs751512030
|
|
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503
|
|
NM_006158.5(NEFL):c.1190A>G (p.Glu397Gly)
|
rs2117251875
|
|
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
|
rs372997416
|
|
NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs)
|
rs2117251668
|
|
NM_006158.5(NEFL):c.1236C>T (p.Tyr412=)
|
|
|
NM_006158.5(NEFL):c.1240dup (p.Gln414fs)
|
|
|
NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)
|
|
|
NM_006158.5(NEFL):c.1248C>T (p.Ser416=)
|
|
|
NM_006158.5(NEFL):c.1251G>A (p.Gln417=)
|
rs2117251802
|
|
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286
|
|
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
|
|
|
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe)
|
rs1803002899
|
|
NM_006158.5(NEFL):c.126C>G (p.Ser42Arg)
|
|
|
NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer)
|
|
|
NM_006158.5(NEFL):c.1284G>A (p.Gln428=)
|
rs931901985
|
|
NM_006158.5(NEFL):c.1287C>T (p.Thr429=)
|
rs1554497362
|
|
NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys)
|
rs559215942
|
|
NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu)
|
rs199775873
|
|
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)
|
rs587777882
|
|
NM_006158.5(NEFL):c.1320G>T (p.Pro440=)
|
rs541109299
|
|
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del)
|
rs1554497354
|
|
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)
|
rs1461577846
|
|
NM_006158.5(NEFL):c.1326C>T (p.Tyr442=)
|
|
|
NM_006158.5(NEFL):c.1332del (p.Ser445fs)
|
|
|
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly)
|
rs1563251190
|
|
NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg)
|
rs2117251585
|
|
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)
|
rs1027193109
|
|
NM_006158.5(NEFL):c.134C>T (p.Ala45Val)
|
|
|
NM_006158.5(NEFL):c.1356C>G (p.Ile452Met)
|
rs375151853
|
|
NM_006158.5(NEFL):c.1365G>A (p.Glu455=)
|
|
|
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr)
|
rs372034119
|
|
NM_006158.5(NEFL):c.1379C>T (p.Ala460Val)
|
rs2117251550
|
|
NM_006158.5(NEFL):c.1386G>A (p.Lys462=)
|
|
|
NM_006158.5(NEFL):c.1412C>A (p.Pro471His)
|
rs756696405
|
|
NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg)
|
|
|
NM_006158.5(NEFL):c.1428C>G (p.Ala476=)
|
rs1455394179
|
|
NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
|
rs1586126391
|
|
NM_006158.5(NEFL):c.1441_1443del (p.Lys481del)
|
rs756788675
|
|
NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp)
|
rs968491415
|
|
NM_006158.5(NEFL):c.1458C>G (p.Ala486=)
|
rs61726486
|
|
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)
|
rs558065942
|
|
NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)
|
|
|
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu)
|
rs1554497315
|
|
NM_006158.5(NEFL):c.147C>G (p.Ser49=)
|
rs2117255801
|
|
NM_006158.5(NEFL):c.1482G>A (p.Glu494=)
|
rs1554497313
|
|
NM_006158.5(NEFL):c.1489+16A>T
|
|
|
NM_006158.5(NEFL):c.1489+17C>G
|
|
|
NM_006158.5(NEFL):c.1489+6A>T
|
rs1802996927
|
|
NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)
|
|
|
NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp)
|
rs2117250817
|
|
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr)
|
rs1060503694
|
|
NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)
|
|
|
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)
|
rs570816238
|
|
NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup)
|
rs570816238
|
|
NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys)
|
|
|
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)
|
rs777344234
|
|
NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg)
|
rs1586126037
|
|
NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del)
|
rs758240691
|
|
NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser)
|
rs2117250713
|
|
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)
|
rs3832558
|
|
NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)
|
|
|
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)
|
|
|
NM_006158.5(NEFL):c.1608A>G (p.Glu536=)
|
rs2117250636
|
|
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
|
rs1802987929
|
|
NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu)
|
rs1157404996
|
|
NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn)
|
rs1802987647
|
|
NM_006158.5(NEFL):c.193A>G (p.Met65Val)
|
|
|
NM_006158.5(NEFL):c.194T>C (p.Met65Thr)
|
|
|
NM_006158.5(NEFL):c.194T>G (p.Met65Arg)
|
|
|
NM_006158.5(NEFL):c.200G>A (p.Ser67Asn)
|
|
|
NM_006158.5(NEFL):c.210C>T (p.Asn70=)
|
|
|
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr)
|
rs748849867
|
|
NM_006158.5(NEFL):c.220A>T (p.Ser74Cys)
|
rs1803055066
|
|
NM_006158.5(NEFL):c.229G>C (p.Ala77Pro)
|
|
|
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr)
|
rs886043551
|
|
NM_006158.5(NEFL):c.22C>G (p.Pro8Ala)
|
rs886043551
|
|
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser)
|
rs886043551
|
|
NM_006158.5(NEFL):c.236T>A (p.Ile79Asn)
|
|
|
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953
|
|
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)
|
rs61491953
|
|
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys)
|
rs761847300
|
|
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)
|
rs2117255599
|
|
NM_006158.5(NEFL):c.263C>A (p.Thr88Lys)
|
|
|
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)
|
rs58332872
|
|
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)
|
rs1803053844
|
|
NM_006158.5(NEFL):c.26A>G (p.Tyr9Cys)
|
rs1586129246
|
|
NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del)
|
|
|
NM_006158.5(NEFL):c.281T>A (p.Leu94His)
|
|
|
NM_006158.5(NEFL):c.287A>T (p.Asp96Val)
|
|
|
NM_006158.5(NEFL):c.288C>T (p.Asp96=)
|
|
|
NM_006158.5(NEFL):c.289C>A (p.Leu97Ile)
|
rs587777888
|
|
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe)
|
rs587777888
|
|
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro)
|
rs1803053378
|
|
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)
|
rs1803053378
|
|
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)
|
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys)
|
rs1057517776
|
|
NM_006158.5(NEFL):c.299G>C (p.Arg100Pro)
|
|
|
NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)
|
|
|
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
|
rs1323026981
|
|
NM_006158.5(NEFL):c.316G>A (p.Glu106Lys)
|
|
|
NM_006158.5(NEFL):c.321C>G (p.Arg107=)
|
rs1198042093
|
|
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)
|
rs766951637
|
|
NM_006158.5(NEFL):c.331C>G (p.Leu111Val)
|
|
|
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys)
|
rs2117255452
|
|
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641
|
|
NM_006158.5(NEFL):c.352C>T (p.Leu118=)
|
rs1254381816
|
|
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)
|
|
|
NM_006158.5(NEFL):c.377G>A (p.Arg126His)
|
rs1364995930
|
|
NM_006158.5(NEFL):c.390C>T (p.Ser130=)
|
rs1430281104
|
|
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
|
|
|
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn)
|
rs868126991
|
|
NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter)
|
rs545637885
|
|
NM_006158.5(NEFL):c.420G>A (p.Glu140=)
|
rs1586128713
|
|
NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)
|
|
|
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln)
|
rs1338365987
|
|
NM_006158.5(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996
|
|
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
|
rs776351925
|
|
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)
|
rs776351925
|
|
NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)
|
|
|
NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del)
|
|
|
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser)
|
rs1437779457
|
|
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
|
rs1803048212
|
|
NM_006158.5(NEFL):c.489G>A (p.Glu163=)
|
|
|
NM_006158.5(NEFL):c.48G>A (p.Arg16=)
|
rs2117256009
|
|
NM_006158.5(NEFL):c.48G>C (p.Arg16=)
|
|
|
NM_006158.5(NEFL):c.491G>A (p.Arg164His)
|
|
|
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)
|
rs1323700017
|
|
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)
|
|
|
NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)
|
|
|
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
|
|
|
NM_006158.5(NEFL):c.509C>A (p.Thr170Asn)
|
rs541360328
|
|
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)
|
rs541360328
|
|
NM_006158.5(NEFL):c.514C>T (p.Arg172Cys)
|
|
|
NM_006158.5(NEFL):c.531C>T (p.Arg177=)
|
|
|
NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)
|
|
|
NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)
|
|
|
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter)
|
rs1431523432
|
|
NM_006158.5(NEFL):c.54C>T (p.Tyr18=)
|
|
|
NM_006158.5(NEFL):c.551G>A (p.Ser184Asn)
|
|
|
NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)
|
|
|
NM_006158.5(NEFL):c.55G>A (p.Val19Met)
|
rs1424618809
|
|
NM_006158.5(NEFL):c.569G>T (p.Gly190Val)
|
rs1803044984
|
|
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln)
|
rs755170407
|
|
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)
|
|
|
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp)
|
rs532240912
|
|
NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)
|
|
|
NM_006158.5(NEFL):c.58G>A (p.Glu20Lys)
|
rs779821785
|
|
NM_006158.5(NEFL):c.593G>C (p.Gly198Ala)
|
rs1554497605
|
|
NM_006158.5(NEFL):c.594C>G (p.Gly198=)
|
|
|
NM_006158.5(NEFL):c.596C>T (p.Ala199Val)
|
|
|
NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)
|
|
|
NM_006158.5(NEFL):c.598G>C (p.Asp200His)
|
rs1312229375
|
|
NM_006158.5(NEFL):c.603G>T (p.Glu201Asp)
|
rs1217355732
|
|
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
|
|
|
NM_006158.5(NEFL):c.608C>T (p.Ala203Val)
|
rs753319598
|
|
NM_006158.5(NEFL):c.609G>T (p.Ala203=)
|
|
|
NM_006158.5(NEFL):c.614C>T (p.Ala205Val)
|
rs556617527
|
|
NM_006158.5(NEFL):c.615T>C (p.Ala205=)
|
|
|
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly)
|
rs771763817
|
|
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro)
|
rs868855966
|
|
NM_006158.5(NEFL):c.621C>G (p.Ala207=)
|
rs763294014
|
|
NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer)
|
rs2117255966
|
|
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
|
rs1803043048
|
|
NM_006158.5(NEFL):c.636C>T (p.Arg212=)
|
|
|
NM_006158.5(NEFL):c.639C>T (p.Ile213=)
|
|
|
NM_006158.5(NEFL):c.648G>A (p.Leu216=)
|
|
|
NM_006158.5(NEFL):c.649A>C (p.Met217Leu)
|
|
|
NM_006158.5(NEFL):c.64C>G (p.Pro22Ala)
|
rs28928910
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.65C>A (p.Pro22His)
|
rs267607538
|
|
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu)
|
rs267607538
|
|
NM_006158.5(NEFL):c.662C>T (p.Ser221Phe)
|
|
|
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro)
|
rs1563251953
|
|
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
|
|
|
NM_006158.5(NEFL):c.67C>G (p.Arg23Gly)
|
rs772092001
|
|
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp)
|
rs772092001
|
|
NM_006158.5(NEFL):c.682G>A (p.Glu228Lys)
|
|
|
NM_006158.5(NEFL):c.682G>C (p.Glu228Gln)
|
rs895511770
|
|
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys)
|
rs758201328
|
|
NM_006158.5(NEFL):c.68G>C (p.Arg23Pro)
|
rs745353207
|
|
NM_006158.5(NEFL):c.705G>A (p.Gln235=)
|
|
|
NM_006158.5(NEFL):c.709C>G (p.Gln237Glu)
|
|
|
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe)
|
rs534615840
|
|
NM_006158.5(NEFL):c.729C>A (p.Ile243=)
|
rs1586128322
|
|
NM_006158.5(NEFL):c.738G>A (p.Glu246=)
|
|
|
NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)
|
|
|
NM_006158.5(NEFL):c.74_88del (p.His25_Val29del)
|
|
|
NM_006158.5(NEFL):c.761T>C (p.Leu254Pro)
|
rs1554497578
|
|
NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)
|
|
|
NM_006158.5(NEFL):c.767C>G (p.Ala256Gly)
|
|
|
NM_006158.5(NEFL):c.767C>T (p.Ala256Val)
|
rs775775697
|
|
NM_006158.5(NEFL):c.769G>A (p.Ala257Thr)
|
rs1803039812
|
|
NM_006158.5(NEFL):c.789G>A (p.Ala263=)
|
|
|
NM_006158.5(NEFL):c.78C>A (p.Ile26=)
|
|
|
NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)
|
|
|
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)
|
rs1554497573
|
|
NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter)
|
rs2117254540
|
|
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys)
|
rs1411999109
|
|
NM_006158.5(NEFL):c.797A>G (p.Glu266Gly)
|
rs1367433683
|
|
NM_006158.5(NEFL):c.797A>T (p.Glu266Val)
|
rs1367433683
|
|
NM_006158.5(NEFL):c.799_803del (p.Lys267fs)
|
|
|
NM_006158.5(NEFL):c.79T>C (p.Ser27Pro)
|
rs2117255911
|
|
NM_006158.5(NEFL):c.818T>C (p.Met273Thr)
|
|
|
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu)
|
rs2117254497
|
|
NM_006158.5(NEFL):c.821A>G (p.Gln274Arg)
|
rs756114856
|
|
NM_006158.5(NEFL):c.832del (p.Glu278fs)
|
|
|
NM_006158.5(NEFL):c.834A>G (p.Glu278=)
|
rs752136885
|
|
NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)
|
|
|
NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)
|
|
|
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn)
|
rs1803037186
|
|
NM_006158.5(NEFL):c.864C>A (p.Thr288=)
|
|
|
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter)
|
rs1586128143
|
|
NM_006158.5(NEFL):c.865_871del (p.Glu289fs)
|
|
|
NM_006158.5(NEFL):c.867G>C (p.Glu289Asp)
|
|
|
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly)
|
rs777110668
|
|
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
|
rs372748927
|
|
NM_006158.5(NEFL):c.870C>G (p.Ser290Arg)
|
rs2117254420
|
|
NM_006158.5(NEFL):c.873C>A (p.Ala291=)
|
|
|
NM_006158.5(NEFL):c.876C>T (p.Ala292=)
|
rs2117254402
|
|
NM_006158.5(NEFL):c.882C>A (p.Asn294Lys)
|
rs946938553
|
|
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys)
|
rs946938553
|
|
NM_006158.5(NEFL):c.88C>A (p.Arg30Ser)
|
|
|
NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del)
|
rs765310700
|
|
NM_006158.5(NEFL):c.903C>T (p.Ala301=)
|
rs2117254339
|
|
NM_006158.5(NEFL):c.906G>A (p.Lys302=)
|
rs2117254336
|
|
NM_006158.5(NEFL):c.918C>T (p.Ser306=)
|
|
|
NM_006158.5(NEFL):c.925C>T (p.Arg309Cys)
|
rs1803035476
|
|
NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)
|
|
|
NM_006158.5(NEFL):c.935T>C (p.Leu312Pro)
|
|
|
NM_006158.5(NEFL):c.940G>A (p.Ala314Thr)
|
|
|
NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)
|
|
|
NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)
|
|
|
NM_006158.5(NEFL):c.957C>A (p.Ile319=)
|
rs758135536
|
|
NM_006158.5(NEFL):c.958G>A (p.Glu320Lys)
|
|
|
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)
|
|
|
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro)
|
rs864622499
|
|
NM_006158.5(NEFL):c.973A>G (p.Met325Val)
|
rs2117254246
|
|
NM_006158.5(NEFL):c.983C>A (p.Ala328Glu)
|
rs768190580
|
|
NM_006158.5(NEFL):c.984G>T (p.Ala328=)
|
rs759524661
|
|
NM_006158.5(NEFL):c.985C>G (p.Leu329Val)
|
|
|
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)
|
rs876661290
|
|
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup)
|
rs1586127947
|
|
NM_006158.5(NEFL):c.993G>A (p.Lys331=)
|
|
|
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)
|
rs59443585
|
|
NM_006158.5(NEFL):c.997C>G (p.Leu333Val)
|
|
|
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro)
|
rs60930717
|
|
NM_014365.3(HSPB8):c.11G>A (p.Gly4Asp)
|
rs1172676336
|
|
NM_014365.3(HSPB8):c.121C>T (p.Pro41Ser)
|
rs920906527
|
|
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)
|
rs1954622196
|
|
NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg)
|
rs1249375553
|
|
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp)
|
rs1954622275
|
|
NM_014365.3(HSPB8):c.142T>C (p.Trp48Arg)
|
rs2136079909
|
|
NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)
|
|
|
NM_014365.3(HSPB8):c.147C>G (p.Pro49=)
|
rs371236491
|
|
NM_014365.3(HSPB8):c.148G>A (p.Asp50Asn)
|
|
|
NM_014365.3(HSPB8):c.149A>T (p.Asp50Val)
|
rs374254847
|
|
NM_014365.3(HSPB8):c.150C>A (p.Asp50Glu)
|
rs2136079920
|
|
NM_014365.3(HSPB8):c.166C>A (p.Leu56Ile)
|
|
|
NM_014365.3(HSPB8):c.174C>A (p.Ser58=)
|
rs56046128
|
|
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs)
|
rs1954622635
|
|
NM_014365.3(HSPB8):c.185G>A (p.Gly62Asp)
|
|
|
NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile)
|
rs771054805
|
|
NM_014365.3(HSPB8):c.194G>A (p.Arg65Lys)
|
rs1265247622
|
|
NM_014365.3(HSPB8):c.201C>T (p.Gly67=)
|
rs1565927038
|
|
NM_014365.3(HSPB8):c.204G>A (p.Met68Ile)
|
|
|
NM_014365.3(HSPB8):c.210C>A (p.Pro70=)
|
|
|
NM_014365.3(HSPB8):c.210C>T (p.Pro70=)
|
rs1211866770
|
|
NM_014365.3(HSPB8):c.215G>A (p.Gly72Asp)
|
|
|
NM_014365.3(HSPB8):c.218C>T (p.Pro73Leu)
|
|
|
NM_014365.3(HSPB8):c.21C>A (p.Pro7=)
|
rs2136079832
|
|
NM_014365.3(HSPB8):c.228C>A (p.Thr76=)
|
|
|
NM_014365.3(HSPB8):c.228C>T (p.Thr76=)
|
|
|
NM_014365.3(HSPB8):c.239G>C (p.Gly80Ala)
|
|
|
NM_014365.3(HSPB8):c.241G>A (p.Val81Met)
|
rs767880226
|
|
NM_014365.3(HSPB8):c.243G>A (p.Val81=)
|
|
|
NM_014365.3(HSPB8):c.266C>A (p.Pro89Gln)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.266C>T (p.Pro89Leu)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.266del (p.Pro89fs)
|
|
|
NM_014365.3(HSPB8):c.266dup (p.Pro90fs)
|
rs773017653
|
|
NM_014365.3(HSPB8):c.26C>T (p.Ser9Phe)
|
|
|
NM_014365.3(HSPB8):c.273C>T (p.Phe91=)
|
|
|
NM_014365.3(HSPB8):c.27_28delinsGG (p.Cys10Gly)
|
|
|
NM_014365.3(HSPB8):c.281A>G (p.Glu94Gly)
|
|
|
NM_014365.3(HSPB8):c.312C>T (p.Ser104=)
|
|
|
NM_014365.3(HSPB8):c.317A>G (p.Lys106Arg)
|
|
|
NM_014365.3(HSPB8):c.32A>C (p.His11Pro)
|
|
|
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer)
|
rs1954624384
|
|
NM_014365.3(HSPB8):c.351A>T (p.Gly117=)
|
|
|
NM_014365.3(HSPB8):c.357G>A (p.Val119=)
|
rs1196313978
|
|
NM_014365.3(HSPB8):c.364T>C (p.Ser122Pro)
|
|
|
NM_014365.3(HSPB8):c.365C>A (p.Ser122Tyr)
|
rs1427416227
|
|
NM_014365.3(HSPB8):c.372A>G (p.Lys124=)
|
|
|
NM_014365.3(HSPB8):c.374A>G (p.His125Arg)
|
rs138733926
|
|
NM_014365.3(HSPB8):c.388C>G (p.Gln130Glu)
|
|
|
NM_014365.3(HSPB8):c.39A>G (p.Pro13=)
|
|
|
NM_014365.3(HSPB8):c.421A>C (p.Lys141Gln)
|
rs104894351
|
|
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)
|
rs104894351
|
|
NM_014365.3(HSPB8):c.430C>G (p.Gln144Glu)
|
|
|
NM_014365.3(HSPB8):c.431+14A>C
|
|
|
NM_014365.3(HSPB8):c.431+14A>T
|
|
|
NM_014365.3(HSPB8):c.431+8A>G
|
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
NM_014365.3(HSPB8):c.432-10T>C
|
|
|
NM_014365.3(HSPB8):c.432-15G>A
|
|
|
NM_014365.3(HSPB8):c.432-8T>C
|
|
|
NM_014365.3(HSPB8):c.437C>G (p.Pro146Arg)
|
rs1565930539
|
|
NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)
|
|
|
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)
|
rs1954619848
|
|
NM_014365.3(HSPB8):c.451C>T (p.Pro151Ser)
|
rs2136086280
|
|
NM_014365.3(HSPB8):c.45C>T (p.Arg15=)
|
rs1565926943
|
|
NM_014365.3(HSPB8):c.461T>C (p.Val154Ala)
|
rs1954726459
|
|
NM_014365.3(HSPB8):c.472C>T (p.Leu158Phe)
|
rs144662422
|
|
NM_014365.3(HSPB8):c.483G>A (p.Glu161=)
|
|
|
NM_014365.3(HSPB8):c.498C>T (p.Ile166=)
|
|
|
NM_014365.3(HSPB8):c.501A>G (p.Glu167=)
|
|
|
NM_014365.3(HSPB8):c.502G>A (p.Ala168Thr)
|
rs1592932884
|
|
NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu)
|
rs1592932892
|
|
NM_014365.3(HSPB8):c.508C>A (p.Gln170Lys)
|
|
|
NM_014365.3(HSPB8):c.50G>A (p.Arg17His)
|
rs146997263
|
|
NM_014365.3(HSPB8):c.50G>C (p.Arg17Pro)
|
|
|
NM_014365.3(HSPB8):c.510G>C (p.Gln170His)
|
|
|
NM_014365.3(HSPB8):c.511G>A (p.Val171Ile)
|
|
|
NM_014365.3(HSPB8):c.515del (p.Pro172fs)
|
rs1954727159
|
|
NM_014365.3(HSPB8):c.518C>T (p.Pro173Leu)
|
rs757849883
|
|
NM_014365.3(HSPB8):c.51C>T (p.Arg17=)
|
|
|
NM_014365.3(HSPB8):c.523T>C (p.Ser175Pro)
|
|
|
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala)
|
rs1592932914
|
|
NM_014365.3(HSPB8):c.540C>G (p.Ser180Arg)
|
|
|
NM_014365.3(HSPB8):c.541A>T (p.Ser181Cys)
|
rs760688825
|
|
NM_014365.3(HSPB8):c.549C>T (p.Asn183=)
|
rs2136086376
|
|
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe)
|
rs1954727649
|
|
NM_014365.3(HSPB8):c.559C>T (p.Pro187Ser)
|
rs1829801528
|
|
NM_014365.3(HSPB8):c.563dup (p.Asp189fs)
|
rs2136086393
|
|
NM_014365.3(HSPB8):c.566A>G (p.Asp189Gly)
|
|
|
NM_014365.3(HSPB8):c.570C>A (p.Ser190Arg)
|
rs551013013
|
|
NM_014365.3(HSPB8):c.580A>T (p.Thr194Ser)
|
rs771995241
|
|
NM_014365.3(HSPB8):c.581C>A (p.Thr194Asn)
|
|
|
NM_014365.3(HSPB8):c.58C>T (p.Pro20Ser)
|
rs2136079863
|
|
NM_014365.3(HSPB8):c.81C>T (p.Ser27=)
|
rs1954620581
|
|
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)
|
rs748320300
|
|
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys)
|
rs748320300
|
|
NM_014365.3(HSPB8):c.86G>A (p.Arg29His)
|
|
|
NM_014365.3(HSPB8):c.87C>A (p.Arg29=)
|
|
|
NM_014365.3(HSPB8):c.95A>C (p.Asp32Ala)
|
|
|
NM_014365.3(HSPB8):c.95A>G (p.Asp32Gly)
|
|
|
NM_014365.3(HSPB8):c.9C>G (p.Asp3Glu)
|
rs952834680
|
|
NM_014845.6(FIG4):c.1012A>G (p.Thr338Ala)
|
|
|
NM_014845.6(FIG4):c.1012A>T (p.Thr338Ser)
|
rs771265385
|
|
NM_014845.6(FIG4):c.1015A>G (p.Met339Val)
|
rs2128386978
|
|
NM_014845.6(FIG4):c.1039+14T>C
|
|
|
NM_014845.6(FIG4):c.1039+5G>T
|
|
|
NM_014845.6(FIG4):c.1039+6T>C
|
|
|
NM_014845.6(FIG4):c.1039+7G>A
|
|
|
NM_014845.6(FIG4):c.1039+8G>A
|
rs2128386984
|
|
NM_014845.6(FIG4):c.1040-16C>G
|
|
|
NM_014845.6(FIG4):c.1040-17T>C
|
rs1476656802
|
|
NM_014845.6(FIG4):c.1040-18A>G
|
|
|
NM_014845.6(FIG4):c.1040-1G>A
|
|
|
NM_014845.6(FIG4):c.1065T>C (p.His355=)
|
|
|
NM_014845.6(FIG4):c.1066G>A (p.Val356Met)
|
|
|
NM_014845.6(FIG4):c.1071T>C (p.Ala357=)
|
|
|
NM_014845.6(FIG4):c.1085A>T (p.Asp362Val)
|
rs1776394936
|
|
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu)
|
rs2295837
|
|
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter)
|
rs2128387076
|
|
NM_014845.6(FIG4):c.1097A>G (p.Gln366Arg)
|
|
|
NM_014845.6(FIG4):c.1101G>T (p.Arg367Ser)
|
|
|
NM_014845.6(FIG4):c.1112C>G (p.Pro371Arg)
|
rs2128387082
|
|
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met)
|
rs754932535
|
|
NM_014845.6(FIG4):c.112G>A (p.Val38Ile)
|
rs761940298
|
|
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
|
|
|
NM_014845.6(FIG4):c.1137+12T>G
|
|
|
NM_014845.6(FIG4):c.1137+8G>T
|
rs779200387
|
|
NM_014845.6(FIG4):c.1138-18G>A
|
|
|
NM_014845.6(FIG4):c.1138-1G>A
|
|
|
NM_014845.6(FIG4):c.1163G>T (p.Arg388Ile)
|
rs2128391017
|
|
NM_014845.6(FIG4):c.117G>A (p.Leu39=)
|
|
|
NM_014845.6(FIG4):c.1181TTG[1] (p.Val395del)
|
rs1777062850
|
|
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val)
|
rs758599286
|
|
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys)
|
rs755232396
|
|
NM_014845.6(FIG4):c.1205del (p.Asn402fs)
|
rs1554303800
|
|
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)
|
rs879253926
|
|
NM_014845.6(FIG4):c.1209A>G (p.Gln403=)
|
|
|
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn)
|
rs1346518731
|
|
NM_014845.6(FIG4):c.1215G>A (p.Leu405=)
|
|
|
NM_014845.6(FIG4):c.1221T>C (p.Pro407=)
|
|
|
NM_014845.6(FIG4):c.1224G>T (p.Glu408Asp)
|
|
|
NM_014845.6(FIG4):c.1225C>A (p.His409Asn)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1225C>T (p.His409Tyr)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1227del (p.His409fs)
|
|
|
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr)
|
|
|
NM_014845.6(FIG4):c.1260G>A (p.Lys420=)
|
|
|
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly)
|
rs1777066450
|
|
NM_014845.6(FIG4):c.1271+1G>A
|
|
|
NM_014845.6(FIG4):c.1271+9T>C
|
rs1336280554
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-10C>T
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-14C>T
|
|
|
NM_014845.6(FIG4):c.1272-20A>G
|
|
|
NM_014845.6(FIG4):c.1272-3C>T
|
|
|
NM_014845.6(FIG4):c.1272-8C>T
|
rs1583697467
|
|
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg)
|
rs2128391428
|
|
NM_014845.6(FIG4):c.1278G>A (p.Leu426=)
|
|
|
NM_014845.6(FIG4):c.1287T>A (p.Val429=)
|
|
|
NM_014845.6(FIG4):c.1290T>C (p.Leu430=)
|
|
|
NM_014845.6(FIG4):c.1297C>T (p.Leu433=)
|
|
|
NM_014845.6(FIG4):c.1312G>A (p.Glu438Lys)
|
rs2128391437
|
|
NM_014845.6(FIG4):c.1316G>A (p.Ser439Asn)
|
|
|
NM_014845.6(FIG4):c.131C>T (p.Thr44Ile)
|
rs375629140
|
|
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter)
|
rs2128391439
|
|
NM_014845.6(FIG4):c.132A>G (p.Thr44=)
|
rs553864727
|
|
NM_014845.6(FIG4):c.1349G>A (p.Arg450His)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1349G>T (p.Arg450Leu)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1355A>G (p.Asp452Gly)
|
rs1777129902
|
|
NM_014845.6(FIG4):c.1363T>G (p.Cys455Gly)
|
rs1012991465
|
|
NM_014845.6(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.6(FIG4):c.1374G>A (p.Leu458=)
|
|
|
NM_014845.6(FIG4):c.1377G>T (p.Arg459=)
|
rs2128391467
|
|
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg)
|
rs1562642404
|
|
NM_014845.6(FIG4):c.1380A>G (p.Pro460=)
|
|
|
NM_014845.6(FIG4):c.1388+10G>C
|
|
|
NM_014845.6(FIG4):c.1388+5G>T
|
rs200730266
|
|
NM_014845.6(FIG4):c.1388+7A>G
|
|
|
NM_014845.6(FIG4):c.1388+8T>A
|
rs1255543487
|
|
NM_014845.6(FIG4):c.1389-15T>C
|
|
|
NM_014845.6(FIG4):c.1389-18G>A
|
|
|
NM_014845.6(FIG4):c.1389-19T>G
|
|
|
NM_014845.6(FIG4):c.138A>C (p.Pro46=)
|
|
|
NM_014845.6(FIG4):c.1410T>C (p.Cys470=)
|
|
|
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs)
|
rs2128391901
|
|
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp)
|
rs1777192183
|
|
NM_014845.6(FIG4):c.1428C>G (p.Arg476=)
|
|
|
NM_014845.6(FIG4):c.1434+18A>G
|
|
|
NM_014845.6(FIG4):c.1435-4T>G
|
|
|
NM_014845.6(FIG4):c.1435-6C>G
|
|
|
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala)
|
|
|
NM_014845.6(FIG4):c.1443C>T (p.Ile481=)
|
rs1583701662
|
|
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs)
|
rs2128392205
|
|
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
|
|
|
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
|
|
|
NM_014845.6(FIG4):c.1521T>C (p.Tyr507=)
|
|
|
NM_014845.6(FIG4):c.1538del (p.Gly513fs)
|
rs1777242231
|
|
NM_014845.6(FIG4):c.1545T>A (p.Ile515=)
|
|
|
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu)
|
|
|
NM_014845.6(FIG4):c.1551A>G (p.Lys517=)
|
|
|
NM_014845.6(FIG4):c.1557T>C (p.Asn519=)
|
|
|
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys)
|
|
|
NM_014845.6(FIG4):c.156del (p.Ile52fs)
|
|
|
NM_014845.6(FIG4):c.1571C>T (p.Thr524Ile)
|
|
|
NM_014845.6(FIG4):c.1574A>G (p.Asp525Gly)
|
|
|
NM_014845.6(FIG4):c.157G>A (p.Asp53Asn)
|
rs121908290
|
|
NM_014845.6(FIG4):c.1583+16dup
|
rs769229381
|
|
NM_014845.6(FIG4):c.1583+20A>C
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+20A>G
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+3A>G
|
rs866431185
|
|
NM_014845.6(FIG4):c.1583+7C>T
|
|
|
NM_014845.6(FIG4):c.1584-10C>T
|
|
|
NM_014845.6(FIG4):c.1584-10del
|
|
|
NM_014845.6(FIG4):c.1584-14T>G
|
|
|
NM_014845.6(FIG4):c.1584-18G>A
|
|
|
NM_014845.6(FIG4):c.1584-1G>T
|
|
|
NM_014845.6(FIG4):c.1584-3T>C
|
|
|
NM_014845.6(FIG4):c.1585T>C (p.Leu529=)
|
|
|
NM_014845.6(FIG4):c.165+10C>T
|
|
|
NM_014845.6(FIG4):c.165+17C>T
|
rs1390100492
|
|
NM_014845.6(FIG4):c.165+2T>C
|
|
|
NM_014845.6(FIG4):c.165+2T>G
|
|
|
NM_014845.6(FIG4):c.165+8T>C
|
rs1775391813
|
|
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro)
|
rs1422048624
|
|
NM_014845.6(FIG4):c.166-10T>C
|
|
|
NM_014845.6(FIG4):c.166-11C>G
|
rs200978101
|
|
NM_014845.6(FIG4):c.166-16A>T
|
|
|
NM_014845.6(FIG4):c.166-7T>C
|
rs2128381583
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr)
|
|
|
NM_014845.6(FIG4):c.1686A>G (p.Pro562=)
|
|
|
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter)
|
rs2128392620
|
|
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
|
rs868101103
|
|
NM_014845.6(FIG4):c.1708A>G (p.Ile570Val)
|
|
|
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
|
rs1775432556
|
|
NM_014845.6(FIG4):c.1710C>T (p.Ile570=)
|
|
|
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg)
|
rs2128392626
|
|
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
|
|
|
NM_014845.6(FIG4):c.1731T>C (p.Tyr577=)
|
|
|
NM_014845.6(FIG4):c.1734C>T (p.Tyr578=)
|
rs1224727049
|
|
NM_014845.6(FIG4):c.1740T>C (p.Asn580=)
|
rs1554304608
|
|
NM_014845.6(FIG4):c.1749_1750+7del
|
rs1777296419
|
|
NM_014845.6(FIG4):c.1750+1del
|
rs764770160
|
|
NM_014845.6(FIG4):c.1751-17T>C
|
|
|
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu)
|
rs1060501402
|
|
NM_014845.6(FIG4):c.1758T>C (p.Asp586=)
|
|
|
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
|
rs748869342
|
|
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)
|
rs2128394568
|
|
NM_014845.6(FIG4):c.1764A>G (p.Gln588=)
|
|
|
NM_014845.6(FIG4):c.1765G>C (p.Asp589His)
|
rs1777637029
|
|
NM_014845.6(FIG4):c.1779C>T (p.Leu593=)
|
|
|
NM_014845.6(FIG4):c.177T>G (p.Thr59=)
|
|
|
NM_014845.6(FIG4):c.1799C>T (p.Pro600Leu)
|
|
|
NM_014845.6(FIG4):c.1801A>G (p.Thr601Ala)
|
rs986837200
|
|
NM_014845.6(FIG4):c.1802C>T (p.Thr601Ile)
|
rs1777638670
|
|
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu)
|
rs754127221
|
|
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
|
|
|
NM_014845.6(FIG4):c.1823G>T (p.Trp608Leu)
|
rs1375864580
|
|
NM_014845.6(FIG4):c.182A>G (p.Gln61Arg)
|
rs1775433375
|
|
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
|
rs1775433473
|
|
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
|
|
|
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe)
|
rs1777642023
|
|
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu)
|
rs772937400
|
|
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144
|
|
NM_014845.6(FIG4):c.1885A>C (p.Arg629=)
|
|
|
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser)
|
rs1399283870
|
|
NM_014845.6(FIG4):c.1889+6_1889+11dup
|
rs762389374
|
|
NM_014845.6(FIG4):c.1890-14T>G
|
rs1562682595
|
|
NM_014845.6(FIG4):c.1890-16A>T
|
rs544899373
|
|
NM_014845.6(FIG4):c.1890-2A>G
|
rs1777909965
|
|
NM_014845.6(FIG4):c.1890-5T>A
|
|
|
NM_014845.6(FIG4):c.18C>G (p.Ala6=)
|
|
|
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
|
|
|
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly)
|
|
|
NM_014845.6(FIG4):c.1917G>A (p.Val639=)
|
|
|
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)
|
rs1488999396
|
|
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln)
|
|
|
NM_014845.6(FIG4):c.1948+10T>C
|
|
|
NM_014845.6(FIG4):c.1948+13_1948+16del
|
|
|
NM_014845.6(FIG4):c.1948+1G>A
|
|
|
NM_014845.6(FIG4):c.1948+3A>T
|
|
|
NM_014845.6(FIG4):c.1949-10T>A
|
rs896444437
|
|
NM_014845.6(FIG4):c.1949-10TC[2]
|
|
|
NM_014845.6(FIG4):c.1949-12T>C
|
rs2128396238
|
|
NM_014845.6(FIG4):c.1949-16G>T
|
|
|
NM_014845.6(FIG4):c.1949-18A>G
|
|
|
NM_014845.6(FIG4):c.1949-5C>T
|
|
|
NM_014845.6(FIG4):c.1949-6_1949-3del
|
|
|
NM_014845.6(FIG4):c.1952T>C (p.Ile651Thr)
|
rs2128396248
|
|
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg)
|
|
|
NM_014845.6(FIG4):c.1978A>T (p.Ile660Leu)
|
rs1777954967
|
|
NM_014845.6(FIG4):c.1981G>T (p.Val661Leu)
|
|
|
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
|
rs1197741113
|
|
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
|
|
|
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu)
|
rs781038961
|
|
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
|
rs1777955968
|
|
NM_014845.6(FIG4):c.19C>T (p.Pro7Ser)
|
rs1367256224
|
|
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
|
|
|
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del)
|
rs2128375200
|
|
NM_014845.6(FIG4):c.2011A>G (p.Ile671Val)
|
rs1554307877
|
|
NM_014845.6(FIG4):c.2031C>G (p.Phe677Leu)
|
|
|
NM_014845.6(FIG4):c.2047T>G (p.Leu683Val)
|
rs761084217
|
|
NM_014845.6(FIG4):c.2052C>A (p.Ser684Arg)
|
rs183958565
|
|
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
|
rs1777959239
|
|
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn)
|
rs1470703929
|
|
NM_014845.6(FIG4):c.2067C>T (p.Thr689=)
|
|
|
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
|
|
|
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
|
|
|
NM_014845.6(FIG4):c.2073C>T (p.Cys691=)
|
|
|
NM_014845.6(FIG4):c.2079T>A (p.Ala693=)
|
|
|
NM_014845.6(FIG4):c.207C>T (p.Arg69=)
|
rs1583643073
|
|
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu)
|
|
|
NM_014845.6(FIG4):c.2096+10G>A
|
|
|
NM_014845.6(FIG4):c.2096+10G>T
|
rs1459717981
|
|
NM_014845.6(FIG4):c.2096+11T>C
|
|
|
NM_014845.6(FIG4):c.2096+7T>G
|
rs2128396287
|
|
NM_014845.6(FIG4):c.2096+8G>A
|
|
|
NM_014845.6(FIG4):c.2096+9T>C
|
rs2128396288
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2097-10C>T
|
rs142482745
|
|
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr)
|
rs1554308483
|
|
NM_014845.6(FIG4):c.2124T>C (p.Ile708=)
|
|
|
NM_014845.6(FIG4):c.2127T>C (p.Asp709=)
|
|
|
NM_014845.6(FIG4):c.2136A>G (p.Pro712=)
|
|
|
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu)
|
rs1259009213
|
|
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala)
|
rs199801181
|
|
NM_014845.6(FIG4):c.2157T>C (p.Asp719=)
|
rs2128396853
|
|
NM_014845.6(FIG4):c.2161del (p.Thr721fs)
|
rs2128396856
|
|
NM_014845.6(FIG4):c.2176T>C (p.Leu726=)
|
|
|
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp)
|
rs1778084158
|
|
NM_014845.6(FIG4):c.2180+1del
|
|
|
NM_014845.6(FIG4):c.2180+3A>G
|
rs1778084325
|
|
NM_014845.6(FIG4):c.2181-10C>A
|
rs1583740892
|
|
NM_014845.6(FIG4):c.2181-18A>G
|
|
|
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser)
|
rs1778129763
|
|
NM_014845.6(FIG4):c.2192A>G (p.Asn731Ser)
|
rs1467094847
|
|
NM_014845.6(FIG4):c.21del (p.Ile8fs)
|
|
|
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly)
|
|
|
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly)
|
rs2128397245
|
|
NM_014845.6(FIG4):c.2205T>C (p.Ala735=)
|
|
|
NM_014845.6(FIG4):c.2208A>G (p.Val736=)
|
|
|
NM_014845.6(FIG4):c.2209T>C (p.Leu737=)
|
|
|
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp)
|
rs773877685
|
|
NM_014845.6(FIG4):c.2223G>A (p.Thr741=)
|
|
|
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139
|
|
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2241G>C (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
|
|
|
NM_014845.6(FIG4):c.2244C>G (p.Pro748=)
|
rs17854106
|
|
NM_014845.6(FIG4):c.2260G>A (p.Val754Met)
|
rs200691981
|
|
NM_014845.6(FIG4):c.2262G>C (p.Val754=)
|
rs2128397273
|
|
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)
|
rs750712213
|
|
NM_014845.6(FIG4):c.2296C>G (p.Arg766Gly)
|
rs552937585
|
|
NM_014845.6(FIG4):c.2297G>A (p.Arg766Gln)
|
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)
|
rs2128397285
|
|
NM_014845.6(FIG4):c.2324G>A (p.Arg775His)
|
rs775280287
|
|
NM_014845.6(FIG4):c.2325C>T (p.Arg775=)
|
|
|
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
rs760215765
|
|
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro)
|
rs1778137467
|
|
NM_014845.6(FIG4):c.2370G>T (p.Val790=)
|
|
|
NM_014845.6(FIG4):c.2376+13G>A
|
|
|
NM_014845.6(FIG4):c.2376+16G>T
|
rs746479599
|
|
NM_014845.6(FIG4):c.2376+1G>A
|
|
|
NM_014845.6(FIG4):c.2376+4C>G
|
|
|
NM_014845.6(FIG4):c.2376+4C>T
|
|
|
NM_014845.6(FIG4):c.2376+5G>C
|
rs528952794
|
|
NM_014845.6(FIG4):c.2376+9dup
|
|
|
NM_014845.6(FIG4):c.2377-10del
|
rs200535694
|
|
NM_014845.6(FIG4):c.2377-11_2377-10del
|
rs200535694
|
|
NM_014845.6(FIG4):c.2377-12T>C
|
rs2128397495
|
|
NM_014845.6(FIG4):c.2377-12_2377-10del
|
|
|
NM_014845.6(FIG4):c.2377-13_2377-10del
|
|
|
NM_014845.6(FIG4):c.2377-19_2377-18insC
|
|
|
NM_014845.6(FIG4):c.2377-6C>A
|
|
|
NM_014845.6(FIG4):c.2377-7del
|
|
|
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr)
|
|
|
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)
|
rs1554309093
|
|
NM_014845.6(FIG4):c.2415C>T (p.Asn805=)
|
|
|
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs)
|
rs1778167481
|
|
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)
|
rs876661144
|
|
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2459+12T>C
|
|
|
NM_014845.6(FIG4):c.2459+7T>C
|
rs575271308
|
|
NM_014845.6(FIG4):c.2459+8A>G
|
|
|
NM_014845.6(FIG4):c.2459G>T (p.Arg820Ile)
|
|
|
NM_014845.6(FIG4):c.2460-10T>C
|
rs749053854
|
|
NM_014845.6(FIG4):c.2460-12T>A
|
rs1264436643
|
|
NM_014845.6(FIG4):c.2460-14A>G
|
rs558299221
|
|
NM_014845.6(FIG4):c.2460-14A>T
|
rs558299221
|
|
NM_014845.6(FIG4):c.2460-5T>A
|
|
|
NM_014845.6(FIG4):c.2466T>G (p.Val822=)
|
rs2128398444
|
|
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
|
rs1778299963
|
|
NM_014845.6(FIG4):c.2523G>A (p.Arg841=)
|
rs1554309865
|
|
NM_014845.6(FIG4):c.2546+10A>G
|
|
|
NM_014845.6(FIG4):c.2546+16G>A
|
|
|
NM_014845.6(FIG4):c.2546+17A>C
|
rs1050332219
|
|
NM_014845.6(FIG4):c.2546+5G>A
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2547-3T>A
|
rs537171532
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.2551C>T (p.Pro851Ser)
|
rs773347231
|
|
NM_014845.6(FIG4):c.2559_2560delinsAT (p.Ala854Ser)
|
rs2128402653
|
|
NM_014845.6(FIG4):c.2568G>A (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2574T>C (p.Asp858=)
|
rs1583785957
|
|
NM_014845.6(FIG4):c.2582A>G (p.Tyr861Cys)
|
rs2128402659
|
|
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg)
|
rs539773516
|
|
NM_014845.6(FIG4):c.2607C>G (p.Asp869Glu)
|
|
|
NM_014845.6(FIG4):c.2623A>T (p.Ile875Phe)
|
|
|
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn)
|
rs746915624
|
|
NM_014845.6(FIG4):c.263G>T (p.Arg88Leu)
|
|
|
NM_014845.6(FIG4):c.2643G>A (p.Gln881=)
|
|
|
NM_014845.6(FIG4):c.2645C>A (p.Ala882Asp)
|
rs2128402682
|
|
NM_014845.6(FIG4):c.2653G>A (p.Gly885Ser)
|
rs2128402684
|
|
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter)
|
rs1306576733
|
|
NM_014845.6(FIG4):c.2669T>G (p.Leu890Arg)
|
rs2128402689
|
|
NM_014845.6(FIG4):c.2672G>A (p.Gly891Glu)
|
|
|
NM_014845.6(FIG4):c.267G>A (p.Ala89=)
|
|
|
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn)
|
|
|
NM_014845.6(FIG4):c.2706C>T (p.Ile902=)
|
|
|
NM_014845.6(FIG4):c.2714G>A (p.Arg905His)
|
rs780921285
|
|
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp)
|
rs1775437078
|
|
NM_014845.6(FIG4):c.285T>A (p.Val95=)
|
|
|
NM_014845.6(FIG4):c.289+13C>A
|
|
|
NM_014845.6(FIG4):c.289+13C>T
|
rs1334113726
|
|
NM_014845.6(FIG4):c.289+16C>T
|
|
|
NM_014845.6(FIG4):c.289+17C>A
|
rs368282150
|
|
NM_014845.6(FIG4):c.289+18del
|
|
|
NM_014845.6(FIG4):c.289+18dup
|
|
|
NM_014845.6(FIG4):c.289+19T>G
|
|
|
NM_014845.6(FIG4):c.290-20C>T
|
|
|
NM_014845.6(FIG4):c.290-5C>T
|
|
|
NM_014845.6(FIG4):c.290-7del
|
rs2128384000
|
|
NM_014845.6(FIG4):c.299G>T (p.Arg100Met)
|
|
|
NM_014845.6(FIG4):c.29G>A (p.Ser10Asn)
|
rs979929537
|
|
NM_014845.6(FIG4):c.301T>C (p.Phe101Leu)
|
rs1209947403
|
|
NM_014845.6(FIG4):c.314A>G (p.Tyr105Cys)
|
|
|
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs)
|
rs1562648414
|
|
NM_014845.6(FIG4):c.326TAA[1] (p.Ile110del)
|
|
|
NM_014845.6(FIG4):c.337A>C (p.Arg113=)
|
|
|
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu)
|
rs1775846393
|
|
NM_014845.6(FIG4):c.363T>A (p.Gly121=)
|
|
|
NM_014845.6(FIG4):c.381C>T (p.Val127=)
|
|
|
NM_014845.6(FIG4):c.38A>G (p.Gln13Arg)
|
rs1774392570
|
|
NM_014845.6(FIG4):c.395T>G (p.Met132Arg)
|
|
|
NM_014845.6(FIG4):c.397A>G (p.Ile133Val)
|
rs777011122
|
|
NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup)
|
rs1462234190
|
|
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767
|
|
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
|
rs571563767
|
|
NM_014845.6(FIG4):c.413A>G (p.Asp138Gly)
|
rs1775848896
|
|
NM_014845.6(FIG4):c.414T>A (p.Asp138Glu)
|
rs1562648534
|
|
NM_014845.6(FIG4):c.423G>A (p.Arg141=)
|
rs766129182
|
|
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
|
rs1775849908
|
|
NM_014845.6(FIG4):c.446+16A>G
|
rs1330337335
|
|
NM_014845.6(FIG4):c.446+18T>C
|
|
|
NM_014845.6(FIG4):c.446+21dup
|
rs1321436747
|
|
NM_014845.6(FIG4):c.446+3A>G
|
rs201642753
|
|
NM_014845.6(FIG4):c.447-10_447-9insC
|
rs2128385199
|
|
NM_014845.6(FIG4):c.447-15T>G
|
|
|
NM_014845.6(FIG4):c.447-16_447-13del
|
rs753412030
|
|
NM_014845.6(FIG4):c.447-16_447-14del
|
|
|
NM_014845.6(FIG4):c.447-16_447-15insCT
|
|
|
NM_014845.6(FIG4):c.447-16del
|
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
NM_014845.6(FIG4):c.447-18_447-17del
|
|
|
NM_014845.6(FIG4):c.447-18_447-17dup
|
|
|
NM_014845.6(FIG4):c.447-2A>C
|
rs866895236
|
|
NM_014845.6(FIG4):c.447-3del
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-4_447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-565_447-564inv
|
|
|
NM_014845.6(FIG4):c.447-5_447-3dup
|
|
|
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys)
|
rs1233666827
|
|
NM_014845.6(FIG4):c.451C>T (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.453A>G (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)
|
rs1175493477
|
|
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
|
|
|
NM_014845.6(FIG4):c.475C>G (p.Leu159Val)
|
|
|
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile)
|
rs2128385214
|
|
NM_014845.6(FIG4):c.486T>C (p.Asn162=)
|
|
|
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
|
rs769986219
|
|
NM_014845.6(FIG4):c.497+10A>T
|
rs2128385219
|
|
NM_014845.6(FIG4):c.497+7G>A
|
rs140111950
|
|
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn)
|
|
|
NM_014845.6(FIG4):c.498-14A>G
|
|
|
NM_014845.6(FIG4):c.498-15C>A
|
rs2128385652
|
|
NM_014845.6(FIG4):c.498-2A>G
|
rs1554300952
|
|
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys)
|
|
|
NM_014845.6(FIG4):c.512_514del (p.Leu171del)
|
rs763532476
|
|
NM_014845.6(FIG4):c.516C>T (p.Ser172=)
|
rs759246119
|
|
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg)
|
rs1776123608
|
|
NM_014845.6(FIG4):c.528A>G (p.Gln176=)
|
rs1562652753
|
|
NM_014845.6(FIG4):c.533A>C (p.Asn178Thr)
|
|
|
NM_014845.6(FIG4):c.535C>G (p.Leu179Val)
|
rs141116831
|
|
NM_014845.6(FIG4):c.539C>T (p.Thr180Ile)
|
|
|
NM_014845.6(FIG4):c.553C>A (p.Pro185Thr)
|
|
|
NM_014845.6(FIG4):c.557del (p.Leu186fs)
|
|
|
NM_014845.6(FIG4):c.57G>C (p.Glu19Asp)
|
rs2128375315
|
|
NM_014845.6(FIG4):c.590G>A (p.Arg197His)
|
|
|
NM_014845.6(FIG4):c.590G>T (p.Arg197Leu)
|
rs543462663
|
|
NM_014845.6(FIG4):c.591C>T (p.Arg197=)
|
|
|
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu)
|
|
|
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
|
|
|
NM_014845.6(FIG4):c.618T>C (p.Asp206=)
|
rs1208786525
|
|
NM_014845.6(FIG4):c.61A>G (p.Arg21Gly)
|
|
|
NM_014845.6(FIG4):c.62G>A (p.Arg21Lys)
|
rs1041331138
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
NM_014845.6(FIG4):c.646+13G>A
|
|
|
NM_014845.6(FIG4):c.646+20C>G
|
|
|
NM_014845.6(FIG4):c.646+7G>T
|
rs2128385685
|
|
NM_014845.6(FIG4):c.647-10del
|
|
|
NM_014845.6(FIG4):c.647-20T>C
|
|
|
NM_014845.6(FIG4):c.647-4del
|
|
|
NM_014845.6(FIG4):c.66+11C>A
|
|
|
NM_014845.6(FIG4):c.66+14C>T
|
rs1319217856
|
|
NM_014845.6(FIG4):c.66+17G>C
|
|
|
NM_014845.6(FIG4):c.66+19C>G
|
|
|
NM_014845.6(FIG4):c.66+20G>C
|
|
|
NM_014845.6(FIG4):c.66+9C>G
|
|
|
NM_014845.6(FIG4):c.67-15C>T
|
|
|
NM_014845.6(FIG4):c.67-18A>G
|
|
|
NM_014845.6(FIG4):c.67-1G>A
|
|
|
NM_014845.6(FIG4):c.67-8A>G
|
|
|
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
|
|
|
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly)
|
rs1775386814
|
|
NM_014845.6(FIG4):c.684T>C (p.Tyr228=)
|
rs1296081777
|
|
NM_014845.6(FIG4):c.69A>G (p.Arg23=)
|
rs1775386908
|
|
NM_014845.6(FIG4):c.705G>T (p.Leu235=)
|
rs1026195072
|
|
NM_014845.6(FIG4):c.725T>C (p.Val242Ala)
|
|
|
NM_014845.6(FIG4):c.741T>C (p.Leu247=)
|
|
|
NM_014845.6(FIG4):c.756T>G (p.His252Gln)
|
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.6(FIG4):c.760T>C (p.Phe254Leu)
|
rs2128386168
|
|
NM_014845.6(FIG4):c.762C>T (p.Phe254=)
|
rs201013726
|
|
NM_014845.6(FIG4):c.775+10C>T
|
|
|
NM_014845.6(FIG4):c.775+20del
|
|
|
NM_014845.6(FIG4):c.775+5C>G
|
rs1776227879
|
|
NM_014845.6(FIG4):c.783del (p.Ile262fs)
|
rs1161553940
|
|
NM_014845.6(FIG4):c.793C>A (p.Arg265=)
|
rs774294963
|
|
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
|
|
|
NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys)
|
|
|
NM_014845.6(FIG4):c.805G>T (p.Val269Phe)
|
rs1474263523
|
|
NM_014845.6(FIG4):c.811C>T (p.Leu271=)
|
rs1360869637
|
|
NM_014845.6(FIG4):c.813A>G (p.Leu271=)
|
rs2128386644
|
|
NM_014845.6(FIG4):c.823A>C (p.Arg275=)
|
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_014845.6(FIG4):c.843C>T (p.Gly281=)
|
rs1776323553
|
|
NM_014845.6(FIG4):c.848G>A (p.Arg283His)
|
rs1562655830
|
|
NM_014845.6(FIG4):c.852T>C (p.Phe284=)
|
rs2128386650
|
|
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr)
|
rs1776324068
|
|
NM_014845.6(FIG4):c.870C>T (p.Asn290=)
|
rs1236653957
|
|
NM_014845.6(FIG4):c.876+2T>G
|
rs2128386656
|
|
NM_014845.6(FIG4):c.876+7_876+13dup
|
|
|
NM_014845.6(FIG4):c.877-15C>T
|
|
|
NM_014845.6(FIG4):c.877-7T>C
|
|
|
NM_014845.6(FIG4):c.882T>C (p.Asp294=)
|
rs776821372
|
|
NM_014845.6(FIG4):c.892G>C (p.Glu298Gln)
|
|
|
NM_014845.6(FIG4):c.911T>C (p.Ile304Thr)
|
|
|
NM_014845.6(FIG4):c.915C>T (p.Leu305=)
|
|
|
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys)
|
|
|
NM_014845.6(FIG4):c.962A>G (p.Tyr321Cys)
|
|
|
NM_014845.6(FIG4):c.976G>A (p.Gly326Arg)
|
rs778157600
|
|
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe)
|
|
|
NM_014874.3(MFN2):c.600-?_816+?del
|
|
|
NM_014874.4(MFN2):c.1002G>A (p.Arg334=)
|
rs1410500132
|
|
NM_014874.4(MFN2):c.1003A>G (p.Met335Val)
|
rs1557527886
|
|
NM_014874.4(MFN2):c.1017G>A (p.Gln339=)
|
rs2100840368
|
|
NM_014874.4(MFN2):c.1024G>C (p.Glu342Gln)
|
rs1557527906
|
|
NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter)
|
|
|
NM_014874.4(MFN2):c.1038+16C>G
|
rs2100840444
|
|
NM_014874.4(MFN2):c.1038+17_1038+20dup
|
|
|
NM_014874.4(MFN2):c.1038+7C>T
|
|
|
NM_014874.4(MFN2):c.1039-11G>C
|
rs777588423
|
|
NM_014874.4(MFN2):c.1039-12T>C
|
|
|
NM_014874.4(MFN2):c.1039-12TG[2]
|
rs780237550
|
|
NM_014874.4(MFN2):c.1039-15C>T
|
|
|
NM_014874.4(MFN2):c.1039-16C>T
|
|
|
NM_014874.4(MFN2):c.1039-19G>T
|
rs74052923
|
|
NM_014874.4(MFN2):c.1039-9G>T
|
rs1569853844
|
|
NM_014874.4(MFN2):c.1042T>C (p.Cys348Arg)
|
rs1639195979
|
|
NM_014874.4(MFN2):c.1047C>T (p.Ile349=)
|
rs2100840933
|
|
NM_014874.4(MFN2):c.1061T>G (p.Val354Gly)
|
rs1057518235
|
|
NM_014874.4(MFN2):c.1064_1066del (p.Lys355del)
|
rs1569853941
|
|
NM_014874.4(MFN2):c.1065G>T (p.Lys355Asn)
|
|
|
NM_014874.4(MFN2):c.1067C>A (p.Thr356Asn)
|
rs1569853976
|
|
NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser)
|
|
|
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr)
|
rs2100841033
|
|
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)
|
rs119103261
|
|
NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu)
|
rs1064795818
|
|
NM_014874.4(MFN2):c.1081C>T (p.His361Tyr)
|
rs1569854012
|
|
NM_014874.4(MFN2):c.1082A>C (p.His361Pro)
|
rs1064793170
|
|
NM_014874.4(MFN2):c.1083C>G (p.His361Gln)
|
rs1639197832
|
|
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro)
|
rs879254176
|
|
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg)
|
rs387906991
|
|
NM_014874.4(MFN2):c.1086G>C (p.Thr362=)
|
|
|
NM_014874.4(MFN2):c.1090C>A (p.Arg364=)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1094C>T (p.Ala365Val)
|
rs868500000
|
|
NM_014874.4(MFN2):c.10C>T (p.Leu4Phe)
|
|
|
NM_014874.4(MFN2):c.1100A>C (p.Gln367Pro)
|
|
|
NM_014874.4(MFN2):c.1102A>G (p.Ile368Val)
|
|
|
NM_014874.4(MFN2):c.1113G>C (p.Ala371=)
|
|
|
NM_014874.4(MFN2):c.1113G>T (p.Ala371=)
|
|
|
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter)
|
rs1639200820
|
|
NM_014874.4(MFN2):c.1121T>G (p.Leu374Arg)
|
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1127T>G (p.Met376Arg)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro)
|
rs1064797107
|
|
NM_014874.4(MFN2):c.1137G>A (p.Leu379=)
|
|
|
NM_014874.4(MFN2):c.113A>T (p.Lys38Met)
|
|
|
NM_014874.4(MFN2):c.1140C>T (p.His380=)
|
|
|
NM_014874.4(MFN2):c.1141A>G (p.Met381Val)
|
rs762210837
|
|
NM_014874.4(MFN2):c.1141A>T (p.Met381Leu)
|
rs762210837
|
|
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro)
|
rs1553144066
|
|
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)
|
rs794727035
|
|
NM_014874.4(MFN2):c.1150C>G (p.Arg384Gly)
|
|
|
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln)
|
rs565042936
|
|
NM_014874.4(MFN2):c.1156C>T (p.Gln386Ter)
|
|
|
NM_014874.4(MFN2):c.1160+10C>T
|
|
|
NM_014874.4(MFN2):c.1160+16T>G
|
|
|
NM_014874.4(MFN2):c.1160+19A>G
|
|
|
NM_014874.4(MFN2):c.1160+1G>A
|
rs1553144086
|
|
NM_014874.4(MFN2):c.1161-16A>T
|
|
|
NM_014874.4(MFN2):c.1161-17C>T
|
|
|
NM_014874.4(MFN2):c.1161-45_1161-14del
|
rs2100846924
|
|
NM_014874.4(MFN2):c.1161G>C (p.Gln387His)
|
|
|
NM_014874.4(MFN2):c.1161G>T (p.Gln387His)
|
rs2100847056
|
|
NM_014874.4(MFN2):c.1168T>C (p.Cys390Arg)
|
rs1569859647
|
|
NM_014874.4(MFN2):c.1182T>G (p.Arg394=)
|
|
|
NM_014874.4(MFN2):c.118A>C (p.Asn40His)
|
rs1026123951
|
|
NM_014874.4(MFN2):c.118A>G (p.Asn40Asp)
|
rs1026123951
|
|
NM_014874.4(MFN2):c.1194A>G (p.Gln398=)
|
rs555006809
|
|
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter)
|
rs879253939
|
|
NM_014874.4(MFN2):c.1201C>T (p.Leu401=)
|
|
|
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val)
|
|
|
NM_014874.4(MFN2):c.1215C>T (p.Asp405=)
|
|
|
NM_014874.4(MFN2):c.1220A>G (p.Gln407Arg)
|
rs1639295881
|
|
NM_014874.4(MFN2):c.1221G>T (p.Gln407His)
|
rs1279266159
|
|
NM_014874.4(MFN2):c.1225G>C (p.Glu409Gln)
|
|
|
NM_014874.4(MFN2):c.1228C>A (p.Leu410Ile)
|
|
|
NM_014874.4(MFN2):c.122G>A (p.Gly41Asp)
|
rs2100802868
|
|
NM_014874.4(MFN2):c.1236T>C (p.Ala412=)
|
rs2100847372
|
|
NM_014874.4(MFN2):c.1241A>T (p.Asp414Val)
|
rs1569860081
|
|
NM_014874.4(MFN2):c.1243T>C (p.Tyr415His)
|
|
|
NM_014874.4(MFN2):c.1244A>G (p.Tyr415Cys)
|
rs1278360900
|
|
NM_014874.4(MFN2):c.1247A>T (p.Lys416Met)
|
rs1639297626
|
|
NM_014874.4(MFN2):c.1251G>T (p.Leu417=)
|
rs1291955409
|
|
NM_014874.4(MFN2):c.1252C>G (p.Arg418Gly)
|
|
|
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)
|
rs1057517987
|
|
NM_014874.4(MFN2):c.1253G>T (p.Arg418Leu)
|
rs766998571
|
|
NM_014874.4(MFN2):c.1268C>T (p.Thr423Met)
|
rs8192303
|
|
NM_014874.4(MFN2):c.1271A>G (p.Glu424Gly)
|
rs1557530247
|
|
NM_014874.4(MFN2):c.1284G>T (p.Arg428Ser)
|
rs2100847602
|
|
NM_014874.4(MFN2):c.1287+10GAG[2]
|
|
|
NM_014874.4(MFN2):c.1287+19G>A
|
rs994622836
|
|
NM_014874.4(MFN2):c.1287+1G>C
|
rs1639299226
|
|
NM_014874.4(MFN2):c.1287+4A>G
|
rs1162804216
|
|
NM_014874.4(MFN2):c.1287+6A>G
|
rs778274550
|
|
NM_014874.4(MFN2):c.1288-16C>T
|
|
|
NM_014874.4(MFN2):c.1288-4G>A
|
|
|
NM_014874.4(MFN2):c.1288-5T>C
|
rs763320321
|
|
NM_014874.4(MFN2):c.1288G>A (p.Val430Met)
|
|
|
NM_014874.4(MFN2):c.1292C>A (p.Ser431Ter)
|
rs764374251
|
|
NM_014874.4(MFN2):c.1293G>A (p.Ser431=)
|
rs751915674
|
|
NM_014874.4(MFN2):c.1296T>C (p.Thr432=)
|
rs2100848678
|
|
NM_014874.4(MFN2):c.1301T>A (p.Met434Lys)
|
|
|
NM_014874.4(MFN2):c.1306G>A (p.Glu436Lys)
|
|
|
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del)
|
rs766213721
|
|
NM_014874.4(MFN2):c.1319G>A (p.Arg440His)
|
|
|
NM_014874.4(MFN2):c.1322T>C (p.Leu441Pro)
|
rs1557530701
|
|
NM_014874.4(MFN2):c.1327G>A (p.Val443Ile)
|
rs780450613
|
|
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)
|
|
|
NM_014874.4(MFN2):c.1330C>G (p.Leu444Val)
|
rs1639318979
|
|
NM_014874.4(MFN2):c.1330C>T (p.Leu444=)
|
rs1639318979
|
|
NM_014874.4(MFN2):c.1331T>C (p.Leu444Pro)
|
rs1569861490
|
|
NM_014874.4(MFN2):c.1332G>A (p.Leu444=)
|
|
|
NM_014874.4(MFN2):c.1332G>T (p.Leu444=)
|
rs142848213
|
|
NM_014874.4(MFN2):c.1333G>A (p.Val445Met)
|
rs1639319467
|
|
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn)
|
rs368032696
|
|
NM_014874.4(MFN2):c.1341T>C (p.Asp447=)
|
|
|
NM_014874.4(MFN2):c.1344C>T (p.Tyr448=)
|
rs2100848957
|
|
NM_014874.4(MFN2):c.1356C>T (p.Phe452=)
|
|
|
NM_014874.4(MFN2):c.1357C>T (p.His453Tyr)
|
|
|
NM_014874.4(MFN2):c.1360C>A (p.Pro454Thr)
|
|
|
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe)
|
rs1639321356
|
|
NM_014874.4(MFN2):c.1380G>A (p.Lys460=)
|
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
NM_014874.4(MFN2):c.1392+12A>G
|
|
|
NM_014874.4(MFN2):c.1392+20G>T
|
rs1367301944
|
|
NM_014874.4(MFN2):c.1392+3G>A
|
|
|
NM_014874.4(MFN2):c.1393-12_1393-11insA
|
|
|
NM_014874.4(MFN2):c.1393-4G>T
|
|
|
NM_014874.4(MFN2):c.1393-7G>A
|
rs906719272
|
|
NM_014874.4(MFN2):c.1406A>G (p.His469Arg)
|
|
|
NM_014874.4(MFN2):c.140G>C (p.Gly47Ala)
|
rs1263406133
|
|
NM_014874.4(MFN2):c.1427G>A (p.Arg476Gln)
|
|
|
NM_014874.4(MFN2):c.142G>A (p.Ala48Thr)
|
|
|
NM_014874.4(MFN2):c.1433T>C (p.Met478Thr)
|
|
|
NM_014874.4(MFN2):c.1434G>A (p.Met478Ile)
|
|
|
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)
|
rs1639333679
|
|
NM_014874.4(MFN2):c.1447T>C (p.Ser483Pro)
|
rs1639334188
|
|
NM_014874.4(MFN2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_014874.4(MFN2):c.1454C>T (p.Ala485Val)
|
|
|
NM_014874.4(MFN2):c.1455C>T (p.Ala485=)
|
|
|
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp)
|
rs2100802936
|
|
NM_014874.4(MFN2):c.1464C>T (p.Asn488=)
|
rs1459334754
|
|
NM_014874.4(MFN2):c.1468C>T (p.Leu490=)
|
rs1569862709
|
|
NM_014874.4(MFN2):c.1470G>A (p.Leu490=)
|
|
|
NM_014874.4(MFN2):c.1476C>T (p.Thr492=)
|
rs143428548
|
|
NM_014874.4(MFN2):c.1488C>T (p.Asp496=)
|
|
|
NM_014874.4(MFN2):c.1489A>G (p.Met497Val)
|
rs2100850292
|
|
NM_014874.4(MFN2):c.1493T>C (p.Ile498Thr)
|
|
|
NM_014874.4(MFN2):c.1495+10del
|
rs754692803
|
|
NM_014874.4(MFN2):c.1495+13G>A
|
|
|
NM_014874.4(MFN2):c.1495+15_1495+16del
|
rs2100850386
|
|
NM_014874.4(MFN2):c.1495+3_1495+6dup
|
rs2100850333
|
|
NM_014874.4(MFN2):c.1495+8C>A
|
rs775224412
|
|
NM_014874.4(MFN2):c.1496-18C>T
|
|
|
NM_014874.4(MFN2):c.1496-2A>G
|
|
|
NM_014874.4(MFN2):c.1496-8C>G
|
rs1639377731
|
|
NM_014874.4(MFN2):c.1496A>T (p.Asp499Val)
|
|
|
NM_014874.4(MFN2):c.1498G>A (p.Gly500Ser)
|
rs1639378150
|
|
NM_014874.4(MFN2):c.1502T>C (p.Leu501Ser)
|
|
|
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)
|
rs1553145023
|
|
NM_014874.4(MFN2):c.1516C>T (p.Pro506Ser)
|
|
|
NM_014874.4(MFN2):c.1523C>G (p.Ser508Cys)
|
|
|
NM_014874.4(MFN2):c.1525G>A (p.Val509Met)
|
|
|
NM_014874.4(MFN2):c.1525G>T (p.Val509Leu)
|
rs945014959
|
|
NM_014874.4(MFN2):c.1535A>G (p.Gln512Arg)
|
rs2100852773
|
|
NM_014874.4(MFN2):c.1538_1541del (p.Ile513fs)
|
rs2100852782
|
|
NM_014874.4(MFN2):c.1551C>T (p.Val517=)
|
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_014874.4(MFN2):c.1570C>T (p.Leu524Phe)
|
rs866494871
|
|
NM_014874.4(MFN2):c.1573A>G (p.Asn525Asp)
|
|
|
NM_014874.4(MFN2):c.1582C>T (p.Leu528=)
|
|
|
NM_014874.4(MFN2):c.1588T>C (p.Cys530Arg)
|
|
|
NM_014874.4(MFN2):c.1590_1591del (p.Cys530_Asp531delinsTer)
|
rs2100853005
|
|
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro)
|
|
|
NM_014874.4(MFN2):c.1601G>A (p.Cys534Tyr)
|
|
|
NM_014874.4(MFN2):c.1606del (p.Asp536fs)
|
rs2100853065
|
|
NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu)
|
|
|
NM_014874.4(MFN2):c.1612del (p.Gln538fs)
|
rs1569865516
|
|
NM_014874.4(MFN2):c.161C>T (p.Ala54Val)
|
|
|
NM_014874.4(MFN2):c.1621A>G (p.Ile541Val)
|
rs1639383535
|
|
NM_014874.4(MFN2):c.1625A>C (p.Glu542Ala)
|
|
|
NM_014874.4(MFN2):c.1629C>G (p.Phe543Leu)
|
rs2100853178
|
|
NM_014874.4(MFN2):c.1631A>G (p.His544Arg)
|
rs1639384043
|
|
NM_014874.4(MFN2):c.1642G>A (p.Gly548Arg)
|
rs373368672
|
|
NM_014874.4(MFN2):c.1642G>C (p.Gly548Arg)
|
|
|
NM_014874.4(MFN2):c.1649C>A (p.Thr550Asn)
|
rs2100853288
|
|
NM_014874.4(MFN2):c.1651A>G (p.Met551Val)
|
rs2100853294
|
|
NM_014874.4(MFN2):c.1653G>A (p.Met551Ile)
|
rs1553145126
|
|
NM_014874.4(MFN2):c.1654C>G (p.Leu552Val)
|
|
|
NM_014874.4(MFN2):c.1664G>C (p.Arg555Thr)
|
|
|
NM_014874.4(MFN2):c.1677C>T (p.Pro559=)
|
|
|
NM_014874.4(MFN2):c.1682A>C (p.Asn561Thr)
|
rs778719488
|
|
NM_014874.4(MFN2):c.1686C>T (p.Ser562=)
|
rs1210577569
|
|
NM_014874.4(MFN2):c.1689T>C (p.Arg563=)
|
|
|
NM_014874.4(MFN2):c.168C>T (p.Phe56=)
|
|
|
NM_014874.4(MFN2):c.1690C>G (p.Arg564Gly)
|
|
|
NM_014874.4(MFN2):c.1690C>T (p.Arg564Trp)
|
|
|
NM_014874.4(MFN2):c.1693G>A (p.Ala565Thr)
|
rs1639388309
|
|
NM_014874.4(MFN2):c.1694C>A (p.Ala565Asp)
|
rs770243526
|
|
NM_014874.4(MFN2):c.1698G>C (p.Leu566Phe)
|
rs1557532315
|
|
NM_014874.4(MFN2):c.1699A>G (p.Met567Val)
|
rs863224067
|
|
NM_014874.4(MFN2):c.1708A>G (p.Asn570Asp)
|
|
|
NM_014874.4(MFN2):c.1713C>G (p.Asp571Glu)
|
|
|
NM_014874.4(MFN2):c.1716+16C>A
|
rs2100853696
|
|
NM_014874.4(MFN2):c.1716+16C>T
|
rs2100853696
|
|
NM_014874.4(MFN2):c.1716+19C>A
|
|
|
NM_014874.4(MFN2):c.1716+5G>A
|
rs1639389952
|
|
NM_014874.4(MFN2):c.1716+6C>G
|
rs1569866132
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
rs1639390139
|
|
NM_014874.4(MFN2):c.1717-8C>G
|
|
|
NM_014874.4(MFN2):c.1717-9_1717-6del
|
rs746359726
|
|
NM_014874.4(MFN2):c.1717G>A (p.Val573Ile)
|
|
|
NM_014874.4(MFN2):c.1717G>C (p.Val573Leu)
|
|
|
NM_014874.4(MFN2):c.171T>C (p.Leu57=)
|
rs1443899568
|
|
NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys)
|
rs786204244
|
|
NM_014874.4(MFN2):c.1727C>T (p.Pro576Leu)
|
|
|
NM_014874.4(MFN2):c.1739C>T (p.Thr580Met)
|
|
|
NM_014874.4(MFN2):c.175+13C>T
|
|
|
NM_014874.4(MFN2):c.175+5G>A
|
|
|
NM_014874.4(MFN2):c.175+6G>T
|
rs762489839
|
|
NM_014874.4(MFN2):c.175+8G>T
|
|
|
NM_014874.4(MFN2):c.1753A>C (p.Ser585Arg)
|
|
|
NM_014874.4(MFN2):c.1755C>G (p.Ser585Arg)
|
rs1335576013
|
|
NM_014874.4(MFN2):c.1758G>A (p.Met586Ile)
|
|
|
NM_014874.4(MFN2):c.1759C>A (p.Pro587Thr)
|
rs771675874
|
|
NM_014874.4(MFN2):c.176-14A>G
|
|
|
NM_014874.4(MFN2):c.176-15A>G
|
rs2100812418
|
|
NM_014874.4(MFN2):c.176-16C>T
|
|
|
NM_014874.4(MFN2):c.176-19T>G
|
|
|
NM_014874.4(MFN2):c.176-3C>T
|
rs975369655
|
|
NM_014874.4(MFN2):c.176-4C>G
|
rs546254672
|
|
NM_014874.4(MFN2):c.176-8A>C
|
rs1189123888
|
|
NM_014874.4(MFN2):c.1763C>T (p.Pro588Leu)
|
rs1639428648
|
|
NM_014874.4(MFN2):c.1771C>T (p.Gln591Ter)
|
|
|
NM_014874.4(MFN2):c.1772_1773del (p.Gln591fs)
|
rs1569868729
|
|
NM_014874.4(MFN2):c.1775G>A (p.Gly592Asp)
|
|
|
NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr)
|
rs1639429397
|
|
NM_014874.4(MFN2):c.1780C>A (p.Leu594Ile)
|
rs1280803045
|
|
NM_014874.4(MFN2):c.1782C>A (p.Leu594=)
|
rs950932066
|
|
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter)
|
rs2100856157
|
|
NM_014874.4(MFN2):c.1807A>G (p.Met603Val)
|
|
|
NM_014874.4(MFN2):c.180G>A (p.Thr60=)
|
|
|
NM_014874.4(MFN2):c.1810G>A (p.Val604Ile)
|
rs1553145384
|
|
NM_014874.4(MFN2):c.1819C>T (p.Leu607=)
|
|
|
NM_014874.4(MFN2):c.1823C>T (p.Ala608Val)
|
rs1060501924
|
|
NM_014874.4(MFN2):c.1830G>A (p.Leu610=)
|
|
|
NM_014874.4(MFN2):c.1833A>T (p.Thr611=)
|
rs2100856355
|
|
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr)
|
rs2100856360
|
|
NM_014874.4(MFN2):c.183C>T (p.Tyr61=)
|
rs1638734576
|
|
NM_014874.4(MFN2):c.1846A>G (p.Met616Val)
|
rs753132224
|
|
NM_014874.4(MFN2):c.1846A>T (p.Met616Leu)
|
rs753132224
|
|
NM_014874.4(MFN2):c.1847T>C (p.Met616Thr)
|
|
|
NM_014874.4(MFN2):c.1854del (p.Val620fs)
|
|
|
NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del)
|
|
|
NM_014874.4(MFN2):c.1858G>C (p.Val620Leu)
|
|
|
NM_014874.4(MFN2):c.1859T>C (p.Val620Ala)
|
|
|
NM_014874.4(MFN2):c.1861G>A (p.Val621Ile)
|
rs1639433425
|
|
NM_014874.4(MFN2):c.1862T>C (p.Val621Ala)
|
|
|
NM_014874.4(MFN2):c.1872+13T>G
|
|
|
NM_014874.4(MFN2):c.1872+5G>A
|
|
|
NM_014874.4(MFN2):c.1873-13A>C
|
|
|
NM_014874.4(MFN2):c.1873-19C>T
|
|
|
NM_014874.4(MFN2):c.1879A>G (p.Lys627Glu)
|
rs1163976600
|
|
NM_014874.4(MFN2):c.1884A>G (p.Ala628=)
|
rs2100857953
|
|
NM_014874.4(MFN2):c.1892G>A (p.Trp631Ter)
|
|
|
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp)
|
rs772701127
|
|
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
|
|
|
NM_014874.4(MFN2):c.189T>C (p.Asn63=)
|
rs2100812512
|
|
NM_014874.4(MFN2):c.1909T>G (p.Ser637Ala)
|
|
|
NM_014874.4(MFN2):c.1910C>T (p.Ser637Phe)
|
rs1569870801
|
|
NM_014874.4(MFN2):c.1915G>C (p.Gly639Arg)
|
rs2100858120
|
|
NM_014874.4(MFN2):c.1918C>A (p.Leu640Ile)
|
|
|
NM_014874.4(MFN2):c.1918C>T (p.Leu640Phe)
|
rs764683093
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.1920C>T (p.Leu640=)
|
|
|
NM_014874.4(MFN2):c.1921T>G (p.Tyr641Asp)
|
rs1569870930
|
|
NM_014874.4(MFN2):c.1927CTC[1] (p.Leu644del)
|
rs2100858186
|
|
NM_014874.4(MFN2):c.1932C>T (p.Leu644=)
|
|
|
NM_014874.4(MFN2):c.1935C>T (p.Tyr645=)
|
|
|
NM_014874.4(MFN2):c.1936G>A (p.Val646Ile)
|
rs754683866
|
|
NM_014874.4(MFN2):c.1936G>C (p.Val646Leu)
|
rs754683866
|
|
NM_014874.4(MFN2):c.1938C>T (p.Val646=)
|
rs1040702840
|
|
NM_014874.4(MFN2):c.1950G>A (p.Leu650=)
|
rs772030424
|
|
NM_014874.4(MFN2):c.1952C>G (p.Thr651Ser)
|
rs746502519
|
|
NM_014874.4(MFN2):c.195A>C (p.Glu65Asp)
|
rs1297357606
|
|
NM_014874.4(MFN2):c.1966G>A (p.Ala656Thr)
|
|
|
NM_014874.4(MFN2):c.1968C>G (p.Ala656=)
|
rs763381681
|
|
NM_014874.4(MFN2):c.1974G>C (p.Glu658Asp)
|
rs2100858415
|
|
NM_014874.4(MFN2):c.1975A>G (p.Arg659Gly)
|
|
|
NM_014874.4(MFN2):c.1979C>T (p.Ala660Val)
|
rs377090439
|
|
NM_014874.4(MFN2):c.1980C>T (p.Ala660=)
|
rs2100858469
|
|
NM_014874.4(MFN2):c.1988G>A (p.Arg663His)
|
rs766735605
|
|
NM_014874.4(MFN2):c.1988G>C (p.Arg663Pro)
|
rs766735605
|
|
NM_014874.4(MFN2):c.1989C>G (p.Arg663=)
|
|
|
NM_014874.4(MFN2):c.2001G>A (p.Glu667=)
|
|
|
NM_014874.4(MFN2):c.2003A>G (p.His668Arg)
|
rs747947098
|
|
NM_014874.4(MFN2):c.2016G>C (p.Lys672Asn)
|
|
|
NM_014874.4(MFN2):c.2017C>A (p.Leu673Met)
|
rs2100858641
|
|
NM_014874.4(MFN2):c.2018T>C (p.Leu673Pro)
|
rs1569871653
|
|
NM_014874.4(MFN2):c.201C>T (p.Asp67=)
|
rs1553141644
|
|
NM_014874.4(MFN2):c.2028C>T (p.Val676=)
|
rs780836559
|
|
NM_014874.4(MFN2):c.2031C>T (p.Ile677=)
|
|
|
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)
|
rs1569871830
|
|
NM_014874.4(MFN2):c.2042G>C (p.Gly681Ala)
|
|
|
NM_014874.4(MFN2):c.2054_2069+1171del
|
|
|
NM_014874.4(MFN2):c.2055CCA[1] (p.His686del)
|
|
|
NM_014874.4(MFN2):c.2058C>T (p.His686=)
|
rs1040857073
|
|
NM_014874.4(MFN2):c.2068C>G (p.Gln690Glu)
|
rs1218249174
|
|
NM_014874.4(MFN2):c.2069+13G>C
|
rs766629075
|
|
NM_014874.4(MFN2):c.2069+15C>G
|
rs375924621
|
|
NM_014874.4(MFN2):c.2069+18A>G
|
rs551549595
|
|
NM_014874.4(MFN2):c.2069+20C>A
|
|
|
NM_014874.4(MFN2):c.2069+4A>G
|
rs2100858892
|
|
NM_014874.4(MFN2):c.2070-11C>T
|
rs759614417
|
|
NM_014874.4(MFN2):c.2070-14T>C
|
|
|
NM_014874.4(MFN2):c.2070-16T>C
|
|
|
NM_014874.4(MFN2):c.2070-16TC[5]
|
|
|
NM_014874.4(MFN2):c.2070-6C>A
|
rs752898934
|
|
NM_014874.4(MFN2):c.2070-7_2070-5del
|
|
|
NM_014874.4(MFN2):c.2070-8C>G
|
|
|
NM_014874.4(MFN2):c.2070-8C>T
|
rs1321940926
|
|
NM_014874.4(MFN2):c.207T>C (p.Val69=)
|
|
|
NM_014874.4(MFN2):c.2092del (p.His698fs)
|
rs1569882539
|
|
NM_014874.4(MFN2):c.2093A>T (p.His698Leu)
|
rs1060501916
|
|
NM_014874.4(MFN2):c.2096_2101del (p.Leu699_Cys700del)
|
rs2100868068
|
|
NM_014874.4(MFN2):c.20G>T (p.Arg7Leu)
|
|
|
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala)
|
rs879253944
|
|
NM_014874.4(MFN2):c.210C>T (p.Thr70=)
|
|
|
NM_014874.4(MFN2):c.2118C>G (p.Thr706=)
|
rs1281194317
|
|
NM_014874.4(MFN2):c.211A>G (p.Thr71Ala)
|
rs548809273
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro)
|
rs375937289
|
|
NM_014874.4(MFN2):c.2123A>G (p.Glu708Gly)
|
rs1557537210
|
|
NM_014874.4(MFN2):c.2125_2133del (p.Asn709_Glu711del)
|
|
|
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)
|
rs1557537223
|
|
NM_014874.4(MFN2):c.2133G>T (p.Glu711Asp)
|
rs1486405515
|
|
NM_014874.4(MFN2):c.2146G>C (p.Ala716Pro)
|
rs144860227
|
|
NM_014874.4(MFN2):c.2146G>T (p.Ala716Ser)
|
rs144860227
|
|
NM_014874.4(MFN2):c.214dup (p.Glu72fs)
|
|
|
NM_014874.4(MFN2):c.2151G>A (p.Met717Ile)
|
rs1639602553
|
|
NM_014874.4(MFN2):c.2156A>G (p.Lys719Arg)
|
rs2100868327
|
|
NM_014874.4(MFN2):c.2159A>T (p.Lys720Ile)
|
rs2100868363
|
|
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val)
|
|
|
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)
|
rs1557537346
|
|
NM_014874.4(MFN2):c.2177C>G (p.Ser726Ter)
|
rs1317009723
|
|
NM_014874.4(MFN2):c.2186G>C (p.Ser729Thr)
|
|
|
NM_014874.4(MFN2):c.2187C>A (p.Ser729Arg)
|
|
|
NM_014874.4(MFN2):c.2189A>G (p.Lys730Arg)
|
rs1373071856
|
|
NM_014874.4(MFN2):c.2190A>T (p.Lys730Asn)
|
rs1569883217
|
|
NM_014874.4(MFN2):c.2195A>G (p.Lys732Arg)
|
|
|
NM_014874.4(MFN2):c.2200C>G (p.Leu734Val)
|
rs900143738
|
|
NM_014874.4(MFN2):c.2202C>G (p.Leu734=)
|
|
|
NM_014874.4(MFN2):c.2204+19G>C
|
|
|
NM_014874.4(MFN2):c.2205-15A>T
|
rs2100874408
|
|
NM_014874.4(MFN2):c.2205-4G>A
|
|
|
NM_014874.4(MFN2):c.2205G>A (p.Arg735=)
|
rs757975290
|
|
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr)
|
rs1553146551
|
|
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val)
|
rs1569889919
|
|
NM_014874.4(MFN2):c.2214C>T (p.Ala738=)
|
rs781669282
|
|
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg)
|
rs1557539004
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.2219G>T (p.Trp740Leu)
|
|
|
NM_014874.4(MFN2):c.221A>G (p.Gln74Arg)
|
rs1569815882
|
|
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys)
|
rs1060501925
|
|
NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp)
|
rs1553146559
|
|
NM_014874.4(MFN2):c.2224G>C (p.Asp742His)
|
|
|
NM_014874.4(MFN2):c.2227A>G (p.Ser743Gly)
|
rs1553146561
|
|
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn)
|
rs1639696930
|
|
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys)
|
rs1064794571
|
|
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly)
|
rs1131691782
|
|
NM_014874.4(MFN2):c.2232G>A (p.Glu744=)
|
rs756693072
|
|
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp)
|
rs756693072
|
|
NM_014874.4(MFN2):c.2232G>T (p.Glu744Asp)
|
rs756693072
|
|
NM_014874.4(MFN2):c.2234T>G (p.Leu745Arg)
|
rs1553146569
|
|
NM_014874.4(MFN2):c.2239A>T (p.Met747Leu)
|
rs1259403735
|
|
NM_014874.4(MFN2):c.223G>A (p.Val75Ile)
|
|
|
NM_014874.4(MFN2):c.2240T>G (p.Met747Arg)
|
rs879254059
|
|
NM_014874.4(MFN2):c.2243T>G (p.Phe748Cys)
|
rs2100874709
|
|
NM_014874.4(MFN2):c.2249A>C (p.His750Pro)
|
rs1569890311
|
|
NM_014874.4(MFN2):c.2249A>G (p.His750Arg)
|
|
|
NM_014874.4(MFN2):c.2249_2250del (p.His750fs)
|
|
|
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)
|
rs1557539119
|
|
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)
|
rs863224968
|
|
NM_014874.4(MFN2):c.2256C>G (p.Tyr752Ter)
|
rs863224968
|
|
NM_014874.4(MFN2):c.2256C>T (p.Tyr752=)
|
|
|
NM_014874.4(MFN2):c.2258T>C (p.Leu753Pro)
|
rs1639699426
|
|
NM_014874.4(MFN2):c.2260C>T (p.Gln754Ter)
|
rs868571112
|
|
NM_014874.4(MFN2):c.2269A>C (p.Arg757=)
|
rs1639700136
|
|
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr)
|
|
|
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.22T>C (p.Cys8Arg)
|
rs1342700068
|
|
NM_014874.4(MFN2):c.239G>C (p.Gly80Ala)
|
rs139827903
|
|
NM_014874.4(MFN2):c.239G>T (p.Gly80Val)
|
rs139827903
|
|
NM_014874.4(MFN2):c.244C>T (p.Leu82=)
|
|
|
NM_014874.4(MFN2):c.245del (p.Leu82fs)
|
rs2100812695
|
|
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys)
|
rs372451582
|
|
NM_014874.4(MFN2):c.24C>G (p.Cys8Trp)
|
|
|
NM_014874.4(MFN2):c.254_256dup (p.Val85_Arg86insMet)
|
rs1638738352
|
|
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu)
|
rs1569816194
|
|
NM_014874.4(MFN2):c.262A>T (p.Ile88Phe)
|
rs1569816194
|
|
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr)
|
rs1638739035
|
|
NM_014874.4(MFN2):c.264C>G (p.Ile88Met)
|
rs1553141680
|
|
NM_014874.4(MFN2):c.264C>T (p.Ile88=)
|
rs1553141680
|
|
NM_014874.4(MFN2):c.271G>T (p.Val91Leu)
|
rs1557519001
|
|
NM_014874.4(MFN2):c.271_274del (p.Val91fs)
|
|
|
NM_014874.4(MFN2):c.273G>A (p.Val91=)
|
|
|
NM_014874.4(MFN2):c.273G>T (p.Val91=)
|
|
|
NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)
|
rs1569816285
|
|
NM_014874.4(MFN2):c.279T>C (p.Ala93=)
|
|
|
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly)
|
rs119103263
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.283A>C (p.Arg95=)
|
rs1060501920
|
|
NM_014874.4(MFN2):c.283A>G (p.Arg95Gly)
|
rs1060501920
|
|
NM_014874.4(MFN2):c.283_285del (p.Arg95del)
|
rs1638740322
|
|
NM_014874.4(MFN2):c.284G>A (p.Arg95Lys)
|
rs1638740596
|
|
NM_014874.4(MFN2):c.285G>C (p.Arg95Ser)
|
rs1553141686
|
|
NM_014874.4(MFN2):c.285G>T (p.Arg95Ser)
|
rs1553141686
|
|
NM_014874.4(MFN2):c.288C>A (p.His96Gln)
|
rs779756767
|
|
NM_014874.4(MFN2):c.288C>G (p.His96Gln)
|
|
|
NM_014874.4(MFN2):c.288C>T (p.His96=)
|
rs779756767
|
|
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)
|
rs1553141706
|
|
NM_014874.4(MFN2):c.299C>G (p.Ala100Gly)
|
rs1553141707
|
|
NM_014874.4(MFN2):c.29C>G (p.Ser10Cys)
|
rs757982521
|
|
NM_014874.4(MFN2):c.307G>A (p.Gly103Ser)
|
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.311+14_311+15delinsTT
|
rs2100813069
|
|
NM_014874.4(MFN2):c.311+7C>G
|
|
|
NM_014874.4(MFN2):c.311+7C>T
|
|
|
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)
|
rs863224068
|
|
NM_014874.4(MFN2):c.312-10T>C
|
|
|
NM_014874.4(MFN2):c.312-16_314del
|
rs2100822209
|
|
NM_014874.4(MFN2):c.312-18G>A
|
|
|
NM_014874.4(MFN2):c.312-3T>A
|
|
|
NM_014874.4(MFN2):c.313A>G (p.Thr105Ala)
|
rs1553142428
|
|
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)
|
rs863224069
|
|
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)
|
|
|
NM_014874.4(MFN2):c.318C>G (p.Ser106Arg)
|
rs778937659
|
|
NM_014874.4(MFN2):c.319A>G (p.Asn107Asp)
|
rs1569829556
|
|
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)
|
rs1638897505
|
|
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg)
|
rs1553142436
|
|
NM_014874.4(MFN2):c.327G>A (p.Lys109=)
|
|
|
NM_014874.4(MFN2):c.332C>T (p.Thr111Ile)
|
rs1638898105
|
|
NM_014874.4(MFN2):c.333C>T (p.Thr111=)
|
|
|
NM_014874.4(MFN2):c.341A>G (p.Asn114Ser)
|
|
|
NM_014874.4(MFN2):c.347T>C (p.Met116Thr)
|
rs1569829691
|
|
NM_014874.4(MFN2):c.349C>G (p.Leu117Val)
|
|
|
NM_014874.4(MFN2):c.351C>T (p.Leu117=)
|
rs1468573342
|
|
NM_014874.4(MFN2):c.357C>T (p.Asp119=)
|
|
|
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
|
|
|
NM_014874.4(MFN2):c.361del (p.Val121fs)
|
|
|
NM_014874.4(MFN2):c.366G>A (p.Leu122=)
|
rs2100822411
|
|
NM_014874.4(MFN2):c.369C>G (p.Pro123=)
|
rs1393819397
|
|
NM_014874.4(MFN2):c.373G>A (p.Gly125Arg)
|
rs1569829787
|
|
NM_014874.4(MFN2):c.374G>A (p.Gly125Glu)
|
rs1638900244
|
|
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)
|
|
|
NM_014874.4(MFN2):c.382C>A (p.His128Asn)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.382C>T (p.His128Tyr)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.383A>C (p.His128Pro)
|
rs1569829894
|
|
NM_014874.4(MFN2):c.384C>G (p.His128Gln)
|
rs770767909
|
|
NM_014874.4(MFN2):c.386C>T (p.Thr129Ile)
|
rs1060501919
|
|
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser)
|
rs776404901
|
|
NM_014874.4(MFN2):c.393T>C (p.Asn131=)
|
|
|
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe)
|
|
|
NM_014874.4(MFN2):c.399C>T (p.Phe133=)
|
|
|
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln)
|
rs2100822581
|
|
NM_014874.4(MFN2):c.406G>T (p.Val136Leu)
|
|
|
NM_014874.4(MFN2):c.406dup (p.Val136fs)
|
rs759844257
|
|
NM_014874.4(MFN2):c.411G>C (p.Glu137Asp)
|
rs2100822641
|
|
NM_014874.4(MFN2):c.423C>G (p.Gly141=)
|
|
|
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)
|
rs863224969
|
|
NM_014874.4(MFN2):c.449G>T (p.Gly150Val)
|
rs1060501918
|
|
NM_014874.4(MFN2):c.452C>T (p.Ser151Leu)
|
rs2100822731
|
|
NM_014874.4(MFN2):c.462G>A (p.Lys154=)
|
rs1255624199
|
|
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
|
|
|
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp)
|
rs2100822768
|
|
NM_014874.4(MFN2):c.463A>G (p.Arg155Gly)
|
|
|
NM_014874.4(MFN2):c.466A>G (p.Ser156Gly)
|
rs1638905291
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
NM_014874.4(MFN2):c.469G>A (p.Ala157Thr)
|
|
|
NM_014874.4(MFN2):c.469_470delinsTT (p.Ala157Phe)
|
|
|
NM_014874.4(MFN2):c.475-12C>T
|
|
|
NM_014874.4(MFN2):c.475-1G>C
|
rs1569834500
|
|
NM_014874.4(MFN2):c.475-2A>G
|
rs1557522794
|
|
NM_014874.4(MFN2):c.475-4T>A
|
|
|
NM_014874.4(MFN2):c.475-5A>G
|
|
|
NM_014874.4(MFN2):c.475-5_475-2dup
|
|
|
NM_014874.4(MFN2):c.475-7_478del
|
rs2100825988
|
|
NM_014874.4(MFN2):c.475A>C (p.Thr159Pro)
|
|
|
NM_014874.4(MFN2):c.479T>C (p.Val160Ala)
|
rs879253861
|
|
NM_014874.4(MFN2):c.486G>C (p.Gln162His)
|
|
|
NM_014874.4(MFN2):c.486_494del (p.Gln162_Ala164del)
|
|
|
NM_014874.4(MFN2):c.488T>C (p.Leu163Pro)
|
rs2100826124
|
|
NM_014874.4(MFN2):c.493C>G (p.His165Asp)
|
rs119103262
|
|
NM_014874.4(MFN2):c.493C>T (p.His165Tyr)
|
rs119103262
|
|
NM_014874.4(MFN2):c.494A>C (p.His165Pro)
|
rs863224970
|
|
NM_014874.4(MFN2):c.494A>G (p.His165Arg)
|
rs863224970
|
|
NM_014874.4(MFN2):c.495T>A (p.His165Gln)
|
rs1569834720
|
|
NM_014874.4(MFN2):c.495T>G (p.His165Gln)
|
rs1569834720
|
|
NM_014874.4(MFN2):c.497C>T (p.Ala166Val)
|
rs1557522849
|
|
NM_014874.4(MFN2):c.504C>T (p.His168=)
|
rs2100826193
|
|
NM_014874.4(MFN2):c.505C>T (p.Gln169Ter)
|
|
|
NM_014874.4(MFN2):c.508G>T (p.Asp170Tyr)
|
|
|
NM_014874.4(MFN2):c.510C>T (p.Asp170=)
|
rs2100826208
|
|
NM_014874.4(MFN2):c.518T>C (p.Leu173Pro)
|
rs2100826229
|
|
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
|
|
|
NM_014874.4(MFN2):c.548G>T (p.Trp183Leu)
|
rs2100826348
|
|
NM_014874.4(MFN2):c.550C>G (p.Pro184Ala)
|
rs1638959309
|
|
NM_014874.4(MFN2):c.552C>T (p.Pro184=)
|
rs2100826374
|
|
NM_014874.4(MFN2):c.555C>T (p.Asn185=)
|
rs755790687
|
|
NM_014874.4(MFN2):c.555del (p.Ser186fs)
|
|
|
NM_014874.4(MFN2):c.564C>T (p.Cys188=)
|
rs536007087
|
|
NM_014874.4(MFN2):c.569T>C (p.Leu190Pro)
|
rs1553142726
|
|
NM_014874.4(MFN2):c.57A>T (p.Arg19Ser)
|
|
|
NM_014874.4(MFN2):c.592A>C (p.Met198Leu)
|
|
|
NM_014874.4(MFN2):c.592A>T (p.Met198Leu)
|
rs1569835123
|
|
NM_014874.4(MFN2):c.597C>G (p.Asp199Glu)
|
rs1205882839
|
|
NM_014874.4(MFN2):c.599+19C>T
|
|
|
NM_014874.4(MFN2):c.599+9G>A
|
|
|
NM_014874.4(MFN2):c.600-11G>C
|
|
|
NM_014874.4(MFN2):c.600-13_600-12del
|
|
|
NM_014874.4(MFN2):c.600-14C>T
|
|
|
NM_014874.4(MFN2):c.600-8_600-7dup
|
rs761842762
|
|
NM_014874.4(MFN2):c.601C>T (p.Pro201Ser)
|
rs1639041254
|
|
NM_014874.4(MFN2):c.604G>A (p.Gly202Ser)
|
|
|
NM_014874.4(MFN2):c.614T>C (p.Val205Ala)
|
rs1639042915
|
|
NM_014874.4(MFN2):c.618C>T (p.Thr206=)
|
|
|
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)
|
rs1162977959
|
|
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg)
|
rs1639043428
|
|
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly)
|
rs1639043704
|
|
NM_014874.4(MFN2):c.638T>C (p.Ile213Thr)
|
rs1557524703
|
|
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser)
|
rs1178355950
|
|
NM_014874.4(MFN2):c.650G>T (p.Cys217Phe)
|
rs1569842458
|
|
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925
|
|
NM_014874.4(MFN2):c.656A>G (p.Asp219Gly)
|
rs1569842483
|
|
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu)
|
rs878854989
|
|
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr)
|
rs1639045345
|
|
NM_014874.4(MFN2):c.661G>A (p.Asp221Asn)
|
rs1569842525
|
|
NM_014874.4(MFN2):c.661G>C (p.Asp221His)
|
rs1569842525
|
|
NM_014874.4(MFN2):c.666G>A (p.Val222=)
|
rs911933291
|
|
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)
|
rs1639045962
|
|
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu)
|
rs1440006845
|
|
NM_014874.4(MFN2):c.66T>C (p.Ala22=)
|
|
|
NM_014874.4(MFN2):c.674_680del (p.Leu225fs)
|
rs1060501915
|
|
NM_014874.4(MFN2):c.676G>A (p.Val226Met)
|
rs1569842610
|
|
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del)
|
rs1569842627
|
|
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys)
|
rs2100831900
|
|
NM_014874.4(MFN2):c.690G>C (p.Glu230Asp)
|
rs1569842685
|
|
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp)
|
rs1569842685
|
|
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
|
rs1569842714
|
|
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe)
|
rs1569842714
|
|
NM_014874.4(MFN2):c.694A>C (p.Thr232Pro)
|
rs1553143165
|
|
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn)
|
rs1569842764
|
|
NM_014874.4(MFN2):c.700A>C (p.Met234Leu)
|
rs2100831955
|
|
NM_014874.4(MFN2):c.700A>G (p.Met234Val)
|
rs2100831955
|
|
NM_014874.4(MFN2):c.700A>T (p.Met234Leu)
|
|
|
NM_014874.4(MFN2):c.703C>G (p.Gln235Glu)
|
rs879254210
|
|
NM_014874.4(MFN2):c.703C>T (p.Gln235Ter)
|
rs879254210
|
|
NM_014874.4(MFN2):c.705G>C (p.Gln235His)
|
|
|
NM_014874.4(MFN2):c.708+10C>T
|
rs1639049020
|
|
NM_014874.4(MFN2):c.708+1G>A
|
rs1639048523
|
|
NM_014874.4(MFN2):c.708+5CTC[2]
|
rs863224842
|
|
NM_014874.4(MFN2):c.708G>A (p.Thr236=)
|
rs1557524867
|
|
NM_014874.4(MFN2):c.709-19G>A
|
|
|
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp)
|
|
|
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp)
|
rs1557525000
|
|
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu)
|
rs1557525005
|
|
NM_014874.4(MFN2):c.718T>G (p.Phe240Val)
|
rs1557525005
|
|
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu)
|
rs864622480
|
|
NM_014874.4(MFN2):c.721T>C (p.Phe241Leu)
|
|
|
NM_014874.4(MFN2):c.730G>A (p.Val244Met)
|
rs879253777
|
|
NM_014874.4(MFN2):c.731T>C (p.Val244Ala)
|
rs1060501921
|
|
NM_014874.4(MFN2):c.731T>G (p.Val244Gly)
|
rs1060501921
|
|
NM_014874.4(MFN2):c.738G>C (p.Glu246Asp)
|
rs2100832455
|
|
NM_014874.4(MFN2):c.742C>G (p.Leu248Val)
|
rs1569843694
|
|
NM_014874.4(MFN2):c.744C>G (p.Leu248=)
|
rs61733205
|
|
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys)
|
rs794729198
|
|
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)
|
rs794729198
|
|
NM_014874.4(MFN2):c.747C>T (p.Ser249=)
|
|
|
NM_014874.4(MFN2):c.748del (p.Arg250fs)
|
|
|
NM_014874.4(MFN2):c.750G>A (p.Arg250=)
|
rs1639056984
|
|
NM_014874.4(MFN2):c.751C>T (p.Pro251Ser)
|
rs28940295
|
|
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg)
|
rs1557525153
|
|
NM_014874.4(MFN2):c.752C>T (p.Pro251Leu)
|
rs1557525153
|
|
NM_014874.4(MFN2):c.764T>C (p.Ile255Thr)
|
|
|
NM_014874.4(MFN2):c.768G>A (p.Leu256=)
|
rs2100832631
|
|
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser)
|
rs1639058625
|
|
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)
|
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014874.4(MFN2):c.776G>T (p.Arg259Leu)
|
rs755065651
|
|
NM_014874.4(MFN2):c.779G>A (p.Trp260Ter)
|
|
|
NM_014874.4(MFN2):c.790_791delinsTT (p.Ala264Phe)
|
rs2100832738
|
|
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
|
rs1569844113
|
|
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
|
rs1453267972
|
|
NM_014874.4(MFN2):c.808A>C (p.Met270Leu)
|
rs748318825
|
|
NM_014874.4(MFN2):c.808A>T (p.Met270Leu)
|
rs748318825
|
|
NM_014874.4(MFN2):c.813G>C (p.Glu271Asp)
|
|
|
NM_014874.4(MFN2):c.814G>A (p.Glu272Lys)
|
rs1639061149
|
|
NM_014874.4(MFN2):c.816+16T>C
|
|
|
NM_014874.4(MFN2):c.816+18G>A
|
rs2100832894
|
|
NM_014874.4(MFN2):c.816+5G>A
|
|
|
NM_014874.4(MFN2):c.816+9T>G
|
|
|
NM_014874.4(MFN2):c.817-14T>G
|
|
|
NM_014874.4(MFN2):c.817-18C>T
|
|
|
NM_014874.4(MFN2):c.817-19A>G
|
|
|
NM_014874.4(MFN2):c.817G>A (p.Val273Met)
|
rs1639165942
|
|
NM_014874.4(MFN2):c.817G>T (p.Val273Leu)
|
|
|
NM_014874.4(MFN2):c.818T>A (p.Val273Glu)
|
rs1458700065
|
|
NM_014874.4(MFN2):c.818T>G (p.Val273Gly)
|
rs1458700065
|
|
NM_014874.4(MFN2):c.821GGC[3] (p.Arg275_Gln276insArg)
|
|
|
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup)
|
rs1553143791
|
|
NM_014874.4(MFN2):c.828G>T (p.Gln276His)
|
rs1569851570
|
|
NM_014874.4(MFN2):c.832A>G (p.Met278Val)
|
|
|
NM_014874.4(MFN2):c.834G>A (p.Met278Ile)
|
rs1639167341
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014874.4(MFN2):c.857T>G (p.Val286Gly)
|
|
|
NM_014874.4(MFN2):c.861T>C (p.Asp287=)
|
|
|
NM_014874.4(MFN2):c.864G>A (p.Glu288=)
|
rs1569851796
|
|
NM_014874.4(MFN2):c.864G>C (p.Glu288Asp)
|
rs1569851796
|
|
NM_014874.4(MFN2):c.866T>C (p.Leu289Pro)
|
|
|
NM_014874.4(MFN2):c.879T>C (p.Asp293=)
|
|
|
NM_014874.4(MFN2):c.880C>G (p.Arg294Gly)
|
rs866604005
|
|
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter)
|
rs866604005
|
|
NM_014874.4(MFN2):c.881G>A (p.Arg294Gln)
|
|
|
NM_014874.4(MFN2):c.887A>G (p.Gln296Arg)
|
|
|
NM_014874.4(MFN2):c.890C>T (p.Ala297Val)
|
|
|
NM_014874.4(MFN2):c.891C>G (p.Ala297=)
|
|
|
NM_014874.4(MFN2):c.910G>C (p.Val304Leu)
|
rs2100839352
|
|
NM_014874.4(MFN2):c.912G>A (p.Val304=)
|
|
|
NM_014874.4(MFN2):c.916G>A (p.Ala306Thr)
|
rs1553143847
|
|
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu)
|
rs1639171700
|
|
NM_014874.4(MFN2):c.91C>T (p.His31Tyr)
|
rs1553140991
|
|
NM_014874.4(MFN2):c.922G>A (p.Glu308Lys)
|
rs1553143852
|
|
NM_014874.4(MFN2):c.922G>C (p.Glu308Gln)
|
|
|
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter)
|
rs1553143852
|
|
NM_014874.4(MFN2):c.925G>A (p.Val309Met)
|
|
|
NM_014874.4(MFN2):c.927G>C (p.Val309=)
|
rs779947209
|
|
NM_014874.4(MFN2):c.931A>G (p.Asn311Asp)
|
|
|
NM_014874.4(MFN2):c.93C>G (p.His31Gln)
|
|
|
NM_014874.4(MFN2):c.949G>T (p.Ala317Ser)
|
rs2100839494
|
|
NM_014874.4(MFN2):c.950C>G (p.Ala317Gly)
|
rs1639173341
|
|
NM_014874.4(MFN2):c.964G>A (p.Glu322Lys)
|
rs1569852256
|
|
NM_014874.4(MFN2):c.969A>G (p.Gly323=)
|
rs1639174381
|
|
NM_014874.4(MFN2):c.970+1G>T
|
rs1553143890
|
|
NM_014874.4(MFN2):c.970+5T>G
|
|
|
NM_014874.4(MFN2):c.970+6G>A
|
|
|
NM_014874.4(MFN2):c.970+8T>C
|
rs2100839593
|
|
NM_014874.4(MFN2):c.970+9G>A
|
rs2100839595
|
|
NM_014874.4(MFN2):c.971-10A>G
|
|
|
NM_014874.4(MFN2):c.971-4C>G
|
|
|
NM_014874.4(MFN2):c.971-5C>T
|
|
|
NM_014874.4(MFN2):c.971-8C>T
|
rs780000309
|
|
NM_014874.4(MFN2):c.976G>A (p.Ala326Thr)
|
rs1324564667
|
|
NM_014874.4(MFN2):c.981C>T (p.Leu327=)
|
rs747677218
|
|
NM_014874.4(MFN2):c.987A>G (p.Glu329=)
|
|
|
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
|
|
|
NM_014874.4(MFN2):c.997G>A (p.Val333Met)
|
rs1009733171
|
|
NM_015271.5(TRIM2):c.1002del (p.Gly334_Leu335insTer)
|
|
|
NM_015271.5(TRIM2):c.1008G>A (p.Lys336=)
|
rs2150143876
|
|
NM_015271.5(TRIM2):c.1014C>T (p.Ser338=)
|
|
|
NM_015271.5(TRIM2):c.1021_1040del (p.Asn341fs)
|
|
|
NM_015271.5(TRIM2):c.1050C>T (p.Ala350=)
|
rs1433209136
|
|
NM_015271.5(TRIM2):c.1065A>G (p.Thr355=)
|
rs1376886785
|
|
NM_015271.5(TRIM2):c.106C>A (p.Pro36Thr)
|
rs769878993
|
|
NM_015271.5(TRIM2):c.1071C>T (p.Ala357=)
|
|
|
NM_015271.5(TRIM2):c.1073C>A (p.Thr358Lys)
|
|
|
NM_015271.5(TRIM2):c.1080G>C (p.Glu360Asp)
|
|
|
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp)
|
rs768541205
|
|
NM_015271.5(TRIM2):c.1095C>A (p.Thr365=)
|
rs887445633
|
|
NM_015271.5(TRIM2):c.1110C>G (p.Pro370=)
|
rs1579434513
|
|
NM_015271.5(TRIM2):c.1113G>C (p.Met371Ile)
|
|
|
NM_015271.5(TRIM2):c.1114T>A (p.Ser372Thr)
|
|
|
NM_015271.5(TRIM2):c.111T>A (p.Ser37Arg)
|
|
|
NM_015271.5(TRIM2):c.1125C>T (p.Ile375=)
|
|
|
NM_015271.5(TRIM2):c.1141G>C (p.Asp381His)
|
|
|
NM_015271.5(TRIM2):c.1146T>C (p.Gly382=)
|
|
|
NM_015271.5(TRIM2):c.114T>G (p.Pro38=)
|
rs2150035241
|
|
NM_015271.5(TRIM2):c.1150C>T (p.Leu384=)
|
|
|
NM_015271.5(TRIM2):c.1162G>A (p.Gly388Ser)
|
|
|
NM_015271.5(TRIM2):c.117G>C (p.Val39=)
|
|
|
NM_015271.5(TRIM2):c.1194C>G (p.Thr398=)
|
|
|
NM_015271.5(TRIM2):c.1196C>A (p.Pro399His)
|
rs781013555
|
|
NM_015271.5(TRIM2):c.1196C>G (p.Pro399Arg)
|
rs781013555
|
|
NM_015271.5(TRIM2):c.1198G>A (p.Asp400Asn)
|
rs1341638291
|
|
NM_015271.5(TRIM2):c.1199A>G (p.Asp400Gly)
|
|
|
NM_015271.5(TRIM2):c.1211_1212delinsGC (p.Ala404Gly)
|
rs2150144886
|
|
NM_015271.5(TRIM2):c.1212A>T (p.Ala404=)
|
rs1203709630
|
|
NM_015271.5(TRIM2):c.1217G>A (p.Gly406Glu)
|
|
|
NM_015271.5(TRIM2):c.1218G>A (p.Gly406=)
|
rs1192077857
|
|
NM_015271.5(TRIM2):c.1232A>G (p.Asn411Ser)
|
rs889090777
|
|
NM_015271.5(TRIM2):c.1235A>T (p.Lys412Met)
|
|
|
NM_015271.5(TRIM2):c.1243A>G (p.Thr415Ala)
|
rs111861590
|
|
NM_015271.5(TRIM2):c.125A>C (p.Gln42Pro)
|
|
|
NM_015271.5(TRIM2):c.1260C>T (p.Tyr420=)
|
|
|
NM_015271.5(TRIM2):c.1275A>G (p.Glu425=)
|
|
|
NM_015271.5(TRIM2):c.1284T>C (p.Phe428=)
|
rs2150145207
|
|
NM_015271.5(TRIM2):c.1289T>G (p.Leu430Arg)
|
|
|
NM_015271.5(TRIM2):c.1298G>A (p.Arg433Lys)
|
|
|
NM_015271.5(TRIM2):c.1319G>A (p.Arg440Gln)
|
rs1762656339
|
|
NM_015271.5(TRIM2):c.1326C>T (p.Ser442=)
|
|
|
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu)
|
rs1579436975
|
|
NM_015271.5(TRIM2):c.1346T>C (p.Ile449Thr)
|
rs748092770
|
|
NM_015271.5(TRIM2):c.1347C>T (p.Ile449=)
|
|
|
NM_015271.5(TRIM2):c.1354G>C (p.Ala452Pro)
|
|
|
NM_015271.5(TRIM2):c.1368C>T (p.Pro456=)
|
rs1295920622
|
|
NM_015271.5(TRIM2):c.1374A>G (p.Thr458=)
|
rs144496251
|
|
NM_015271.5(TRIM2):c.1380C>T (p.Gly460=)
|
rs773901536
|
|
NM_015271.5(TRIM2):c.1390C>T (p.Arg464Cys)
|
|
|
NM_015271.5(TRIM2):c.1392C>T (p.Arg464=)
|
|
|
NM_015271.5(TRIM2):c.1402C>T (p.Pro468Ser)
|
|
|
NM_015271.5(TRIM2):c.1403C>T (p.Pro468Leu)
|
|
|
NM_015271.5(TRIM2):c.1410C>A (p.Ser470Arg)
|
|
|
NM_015271.5(TRIM2):c.1443C>A (p.Pro481=)
|
rs948266365
|
|
NM_015271.5(TRIM2):c.1443del (p.Ala482fs)
|
rs2150145898
|
|
NM_015271.5(TRIM2):c.1444G>A (p.Ala482Thr)
|
|
|
NM_015271.5(TRIM2):c.1444G>T (p.Ala482Ser)
|
|
|
NM_015271.5(TRIM2):c.1445C>G (p.Ala482Gly)
|
rs1762681975
|
|
NM_015271.5(TRIM2):c.144G>C (p.Leu48=)
|
|
|
NM_015271.5(TRIM2):c.1453T>C (p.Tyr485His)
|
|
|
NM_015271.5(TRIM2):c.1459A>G (p.Thr487Ala)
|
|
|
NM_015271.5(TRIM2):c.1485C>T (p.Ile495=)
|
rs2150146138
|
|
NM_015271.5(TRIM2):c.1500C>G (p.Ile500Met)
|
|
|
NM_015271.5(TRIM2):c.1505G>A (p.Arg502Gln)
|
|
|
NM_015271.5(TRIM2):c.1510+1G>C
|
|
|
NM_015271.5(TRIM2):c.1510+3A>G
|
|
|
NM_015271.5(TRIM2):c.1511-5T>C
|
|
|
NM_015271.5(TRIM2):c.1524A>G (p.Arg508=)
|
|
|
NM_015271.5(TRIM2):c.1525A>C (p.Asn509His)
|
|
|
NM_015271.5(TRIM2):c.1527T>C (p.Asn509=)
|
rs369980947
|
|
NM_015271.5(TRIM2):c.1534G>C (p.Glu512Gln)
|
|
|
NM_015271.5(TRIM2):c.153T>C (p.Ser51=)
|
rs764154708
|
|
NM_015271.5(TRIM2):c.1554G>A (p.Gly518=)
|
|
|
NM_015271.5(TRIM2):c.1560T>G (p.Ala520=)
|
|
|
NM_015271.5(TRIM2):c.1565C>G (p.Ser522Cys)
|
rs1767402219
|
|
NM_015271.5(TRIM2):c.1591G>A (p.Asp531Asn)
|
rs2149526920
|
|
NM_015271.5(TRIM2):c.1603C>A (p.Gln535Lys)
|
|
|
NM_015271.5(TRIM2):c.1611G>A (p.Val537=)
|
|
|
NM_015271.5(TRIM2):c.1614+9C>T
|
|
|
NM_015271.5(TRIM2):c.1615-17T>C
|
|
|
NM_015271.5(TRIM2):c.1615-5T>C
|
|
|
NM_015271.5(TRIM2):c.1626T>C (p.Asn542=)
|
rs1308153997
|
|
NM_015271.5(TRIM2):c.1629T>C (p.Asp543=)
|
rs184025938
|
|
NM_015271.5(TRIM2):c.1661G>A (p.Gly554Glu)
|
|
|
NM_015271.5(TRIM2):c.1663C>T (p.Arg555Cys)
|
rs2149528038
|
|
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His)
|
rs755651013
|
|
NM_015271.5(TRIM2):c.1671G>A (p.Pro557=)
|
rs150231451
|
|
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln)
|
rs1418080739
|
|
NM_015271.5(TRIM2):c.167G>T (p.Arg56Leu)
|
|
|
NM_015271.5(TRIM2):c.168G>T (p.Arg56=)
|
|
|
NM_015271.5(TRIM2):c.1712G>T (p.Ser571Ile)
|
|
|
NM_015271.5(TRIM2):c.1720A>G (p.Ile574Val)
|
rs2149528266
|
|
NM_015271.5(TRIM2):c.1731C>T (p.Ala577=)
|
rs762952620
|
|
NM_015271.5(TRIM2):c.1746A>G (p.Lys582=)
|
rs759415596
|
|
NM_015271.5(TRIM2):c.1767C>G (p.Ser589=)
|
rs767007696
|
|
NM_015271.5(TRIM2):c.1768G>A (p.Asp590Asn)
|
|
|
NM_015271.5(TRIM2):c.1770T>C (p.Asp590=)
|
|
|
NM_015271.5(TRIM2):c.1776A>G (p.Lys592=)
|
|
|
NM_015271.5(TRIM2):c.177T>C (p.Asn59=)
|
|
|
NM_015271.5(TRIM2):c.1782+14C>T
|
|
|
NM_015271.5(TRIM2):c.1782+7T>C
|
rs2149528432
|
|
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val)
|
rs780090814
|
|
NM_015271.5(TRIM2):c.1797A>T (p.Ser599=)
|
|
|
NM_015271.5(TRIM2):c.1834C>A (p.Arg612Ser)
|
|
|
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser)
|
rs1579720652
|
|
NM_015271.5(TRIM2):c.183G>A (p.Lys61=)
|
|
|
NM_015271.5(TRIM2):c.1846A>G (p.Ile616Val)
|
rs1561013892
|
|
NM_015271.5(TRIM2):c.1863C>T (p.Asn621=)
|
|
|
NM_015271.5(TRIM2):c.1869G>C (p.Ala623=)
|
rs138879605
|
|
NM_015271.5(TRIM2):c.1871G>T (p.Cys624Phe)
|
|
|
NM_015271.5(TRIM2):c.1876G>A (p.Val626Met)
|
rs759524701
|
|
NM_015271.5(TRIM2):c.1889A>G (p.Gln630Arg)
|
|
|
NM_015271.5(TRIM2):c.1912A>G (p.Arg638Gly)
|
|
|
NM_015271.5(TRIM2):c.1924C>T (p.Arg642Ter)
|
|
|
NM_015271.5(TRIM2):c.1925G>A (p.Arg642Gln)
|
|
|
NM_015271.5(TRIM2):c.1941G>T (p.Arg647Ser)
|
|
|
NM_015271.5(TRIM2):c.1951+10A>G
|
rs1769302814
|
|
NM_015271.5(TRIM2):c.1951+20G>A
|
|
|
NM_015271.5(TRIM2):c.1951+8C>T
|
|
|
NM_015271.5(TRIM2):c.1952-12T>C
|
rs751891772
|
|
NM_015271.5(TRIM2):c.1952-13A>G
|
|
|
NM_015271.5(TRIM2):c.1952-3C>T
|
|
|
NM_015271.5(TRIM2):c.1952-4G>A
|
|
|
NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu)
|
rs1554002777
|
|
NM_015271.5(TRIM2):c.1967C>A (p.Ala656Asp)
|
|
|
NM_015271.5(TRIM2):c.2006dup (p.His669fs)
|
rs2149564124
|
|
NM_015271.5(TRIM2):c.2022+6A>G
|
|
|
NM_015271.5(TRIM2):c.2033A>G (p.Gln678Arg)
|
rs2149583488
|
|
NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile)
|
rs1579783522
|
|
NM_015271.5(TRIM2):c.2050T>C (p.Leu684=)
|
rs779994895
|
|
NM_015271.5(TRIM2):c.2091T>C (p.Asn697=)
|
|
|
NM_015271.5(TRIM2):c.2096C>T (p.Pro699Leu)
|
|
|
NM_015271.5(TRIM2):c.2104G>A (p.Val702Ile)
|
|
|
NM_015271.5(TRIM2):c.211G>C (p.Glu71Gln)
|
rs2150035596
|
|
NM_015271.5(TRIM2):c.2121T>C (p.Asn707=)
|
|
|
NM_015271.5(TRIM2):c.2130C>G (p.Ile710Met)
|
|
|
NM_015271.5(TRIM2):c.2133T>C (p.Ile711=)
|
|
|
NM_015271.5(TRIM2):c.2142C>T (p.Asp714=)
|
rs2149583773
|
|
NM_015271.5(TRIM2):c.215+10C>T
|
rs1579195939
|
|
NM_015271.5(TRIM2):c.215+7C>T
|
|
|
NM_015271.5(TRIM2):c.216-13G>T
|
|
|
NM_015271.5(TRIM2):c.2163+14C>T
|
|
|
NM_015271.5(TRIM2):c.2163+9A>G
|
|
|
NM_015271.5(TRIM2):c.2164-12_2164-9del
|
rs2149607661
|
|
NM_015271.5(TRIM2):c.2164-14C>G
|
|
|
NM_015271.5(TRIM2):c.2164-16T>C
|
rs964354274
|
|
NM_015271.5(TRIM2):c.2205A>G (p.Thr735=)
|
rs2149607845
|
|
NM_015271.5(TRIM2):c.2226C>G (p.Gly742=)
|
rs1195853126
|
|
NM_015271.5(TRIM2):c.2251G>A (p.Asp751Asn)
|
|
|
NM_015271.5(TRIM2):c.2256T>G (p.Gly752=)
|
rs2149608023
|
|
NM_015271.5(TRIM2):c.2280A>G (p.Gly760=)
|
|
|
NM_015271.5(TRIM2):c.2303G>A (p.Arg768Gln)
|
|
|
NM_015271.5(TRIM2):c.2308_2311del (p.Leu770fs)
|
rs2149608145
|
|
NM_015271.5(TRIM2):c.2313G>A (p.Gln771=)
|
rs2149608184
|
|
NM_015271.5(TRIM2):c.251C>A (p.Thr84Asn)
|
|
|
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile)
|
rs745985238
|
|
NM_015271.5(TRIM2):c.262C>T (p.Pro88Ser)
|
|
|
NM_015271.5(TRIM2):c.272G>T (p.Arg91Leu)
|
rs1757929207
|
|
NM_015271.5(TRIM2):c.278C>A (p.Thr93Asn)
|
|
|
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val)
|
rs1579254686
|
|
NM_015271.5(TRIM2):c.306C>G (p.Ala102=)
|
rs772795087
|
|
NM_015271.5(TRIM2):c.307G>A (p.Ala103Thr)
|
|
|
NM_015271.5(TRIM2):c.309G>A (p.Ala103=)
|
|
|
NM_015271.5(TRIM2):c.320A>G (p.Asn107Ser)
|
rs1757940364
|
|
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val)
|
rs1435917917
|
|
NM_015271.5(TRIM2):c.330C>T (p.Ile110=)
|
rs1291797168
|
|
NM_015271.5(TRIM2):c.358A>G (p.Thr120Ala)
|
|
|
NM_015271.5(TRIM2):c.360T>C (p.Thr120=)
|
rs1274752496
|
|
NM_015271.5(TRIM2):c.373G>A (p.Ala125Thr)
|
|
|
NM_015271.5(TRIM2):c.377A>G (p.Glu126Gly)
|
|
|
NM_015271.5(TRIM2):c.390C>T (p.Ile130=)
|
rs1387805976
|
|
NM_015271.5(TRIM2):c.393G>A (p.Leu131=)
|
rs960284176
|
|
NM_015271.5(TRIM2):c.404_405delinsTG (p.Thr135Met)
|
|
|
NM_015271.5(TRIM2):c.405T>G (p.Thr135=)
|
rs2289409
|
|
NM_015271.5(TRIM2):c.408T>C (p.Ala136=)
|
|
|
NM_015271.5(TRIM2):c.415G>C (p.Ala139Pro)
|
rs774018426
|
|
NM_015271.5(TRIM2):c.416C>T (p.Ala139Val)
|
rs1012146710
|
|
NM_015271.5(TRIM2):c.425C>G (p.Pro142Arg)
|
|
|
NM_015271.5(TRIM2):c.425C>T (p.Pro142Leu)
|
|
|
NM_015271.5(TRIM2):c.429C>T (p.Leu143=)
|
rs2150063164
|
|
NM_015271.5(TRIM2):c.447T>A (p.Asp149Glu)
|
|
|
NM_015271.5(TRIM2):c.453+13G>A
|
|
|
NM_015271.5(TRIM2):c.453+8G>T
|
|
|
NM_015271.5(TRIM2):c.454-13G>C
|
rs754383694
|
|
NM_015271.5(TRIM2):c.454-18T>C
|
|
|
NM_015271.5(TRIM2):c.454-6C>T
|
|
|
NM_015271.5(TRIM2):c.471C>T (p.Cys157=)
|
rs1249856185
|
|
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn)
|
rs1579407719
|
|
NM_015271.5(TRIM2):c.496C>T (p.Arg166Trp)
|
|
|
NM_015271.5(TRIM2):c.507G>A (p.Thr169=)
|
|
|
NM_015271.5(TRIM2):c.510G>A (p.Glu170=)
|
|
|
NM_015271.5(TRIM2):c.511G>A (p.Gly171Arg)
|
rs375213888
|
|
NM_015271.5(TRIM2):c.511G>C (p.Gly171Arg)
|
|
|
NM_015271.5(TRIM2):c.511G>T (p.Gly171Trp)
|
|
|
NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala)
|
rs1553992552
|
|
NM_015271.5(TRIM2):c.516G>A (p.Glu172=)
|
rs1762131162
|
|
NM_015271.5(TRIM2):c.520G>T (p.Ala174Ser)
|
rs200706275
|
|
NM_015271.5(TRIM2):c.529C>G (p.Pro177Ala)
|
rs974200179
|
|
NM_015271.5(TRIM2):c.550G>A (p.Val184Met)
|
rs1579408437
|
|
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg)
|
rs1579408472
|
|
NM_015271.5(TRIM2):c.569C>G (p.Ala190Gly)
|
|
|
NM_015271.5(TRIM2):c.582C>A (p.Val194=)
|
|
|
NM_015271.5(TRIM2):c.588G>T (p.Leu196=)
|
rs1449311337
|
|
NM_015271.5(TRIM2):c.592G>T (p.Ala198Ser)
|
|
|
NM_015271.5(TRIM2):c.605+19A>C
|
|
|
NM_015271.5(TRIM2):c.605+20del
|
|
|
NM_015271.5(TRIM2):c.605+3G>A
|
|
|
NM_015271.5(TRIM2):c.605+8A>C
|
|
|
NM_015271.5(TRIM2):c.606-9G>C
|
rs781041361
|
|
NM_015271.5(TRIM2):c.624T>G (p.Ser208=)
|
|
|
NM_015271.5(TRIM2):c.633G>A (p.Gln211=)
|
|
|
NM_015271.5(TRIM2):c.636C>A (p.Phe212Leu)
|
|
|
NM_015271.5(TRIM2):c.644A>G (p.Glu215Gly)
|
|
|
NM_015271.5(TRIM2):c.648C>T (p.Ile216=)
|
rs1352327505
|
|
NM_015271.5(TRIM2):c.662C>T (p.Thr221Ile)
|
rs2150138936
|
|
NM_015271.5(TRIM2):c.673G>A (p.Ala225Thr)
|
|
|
NM_015271.5(TRIM2):c.673G>T (p.Ala225Ser)
|
rs775717184
|
|
NM_015271.5(TRIM2):c.688G>T (p.Asp230Tyr)
|
rs1560963959
|
|
NM_015271.5(TRIM2):c.701C>T (p.Thr234Ile)
|
|
|
NM_015271.5(TRIM2):c.722C>A (p.Thr241Asn)
|
|
|
NM_015271.5(TRIM2):c.726A>C (p.Leu242Phe)
|
|
|
NM_015271.5(TRIM2):c.731T>C (p.Val244Ala)
|
|
|
NM_015271.5(TRIM2):c.734G>A (p.Arg245His)
|
|
|
NM_015271.5(TRIM2):c.744G>A (p.Val248=)
|
|
|
NM_015271.5(TRIM2):c.745C>G (p.Leu249Val)
|
|
|
NM_015271.5(TRIM2):c.774C>A (p.Gly258=)
|
|
|
NM_015271.5(TRIM2):c.786+10G>C
|
|
|
NM_015271.5(TRIM2):c.786+9A>G
|
|
|
NM_015271.5(TRIM2):c.787-14C>T
|
|
|
NM_015271.5(TRIM2):c.794A>G (p.Gln265Arg)
|
|
|
NM_015271.5(TRIM2):c.796T>C (p.Ser266Pro)
|
|
|
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter)
|
rs746386202
|
|
NM_015271.5(TRIM2):c.805G>C (p.Asp269His)
|
|
|
NM_015271.5(TRIM2):c.822G>T (p.Gly274=)
|
rs747440517
|
|
NM_015271.5(TRIM2):c.830G>A (p.Ser277Asn)
|
rs768739196
|
|
NM_015271.5(TRIM2):c.832A>G (p.Ile278Val)
|
|
|
NM_015271.5(TRIM2):c.842G>A (p.Cys281Tyr)
|
|
|
NM_015271.5(TRIM2):c.849C>T (p.Asn283=)
|
|
|
NM_015271.5(TRIM2):c.85G>T (p.Ala29Ser)
|
|
|
NM_015271.5(TRIM2):c.879G>T (p.Thr293=)
|
|
|
NM_015271.5(TRIM2):c.885C>G (p.Thr295=)
|
rs763610177
|
|
NM_015271.5(TRIM2):c.885C>T (p.Thr295=)
|
|
|
NM_015271.5(TRIM2):c.889G>A (p.Val297Ile)
|
|
|
NM_015271.5(TRIM2):c.912G>A (p.Met304Ile)
|
rs1433319336
|
|
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn)
|
rs1579432032
|
|
NM_015271.5(TRIM2):c.936C>T (p.Ala312=)
|
rs1217667637
|
|
NM_015271.5(TRIM2):c.937G>A (p.Asp313Asn)
|
|
|
NM_015271.5(TRIM2):c.95G>A (p.Gly32Asp)
|
|
|
NM_015271.5(TRIM2):c.970G>A (p.Asp324Asn)
|
|
|
NM_015271.5(TRIM2):c.996C>T (p.Thr332=)
|
|
|
NM_016156.6(MTMR2):c.1005A>C (p.Gly335=)
|
|
|
NM_016156.6(MTMR2):c.1029T>C (p.Tyr343=)
|
|
|
NM_016156.6(MTMR2):c.1034del (p.Asn345fs)
|
rs863224516
|
|
NM_016156.6(MTMR2):c.1071T>C (p.His357=)
|
rs2135434145
|
|
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly)
|
rs1867038226
|
|
NM_016156.6(MTMR2):c.1118A>G (p.Asn373Ser)
|
rs778906960
|
|
NM_016156.6(MTMR2):c.1140G>C (p.Leu380Phe)
|
rs2135433928
|
|
NM_016156.6(MTMR2):c.1143T>G (p.Ser381=)
|
|
|
NM_016156.6(MTMR2):c.1170A>G (p.Glu390=)
|
rs199736240
|
|
NM_016156.6(MTMR2):c.1175T>C (p.Ile392Thr)
|
rs1555060014
|
|
NM_016156.6(MTMR2):c.1179+16T>C
|
|
|
NM_016156.6(MTMR2):c.1180-11C>G
|
|
|
NM_016156.6(MTMR2):c.1180-17A>T
|
|
|
NM_016156.6(MTMR2):c.1180-4C>T
|
|
|
NM_016156.6(MTMR2):c.1180-9G>A
|
rs1347066495
|
|
NM_016156.6(MTMR2):c.1184T>C (p.Ile395Thr)
|
rs774525225
|
|
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly)
|
rs1863726953
|
|
NM_016156.6(MTMR2):c.1221G>C (p.Glu407Asp)
|
|
|
NM_016156.6(MTMR2):c.1236T>C (p.Ser412=)
|
|
|
NM_016156.6(MTMR2):c.1239G>A (p.Val413=)
|
|
|
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs)
|
rs1863723947
|
|
NM_016156.6(MTMR2):c.1281C>T (p.Leu427=)
|
rs199542109
|
|
NM_016156.6(MTMR2):c.1299C>T (p.Leu433=)
|
|
|
NM_016156.6(MTMR2):c.131T>C (p.Val44Ala)
|
|
|
NM_016156.6(MTMR2):c.1349A>T (p.Glu450Val)
|
|
|
NM_016156.6(MTMR2):c.1351A>G (p.Lys451Glu)
|
|
|
NM_016156.6(MTMR2):c.1363A>C (p.Ser455Arg)
|
rs1590978234
|
|
NM_016156.6(MTMR2):c.1364G>A (p.Ser455Asn)
|
rs1565348037
|
|
NM_016156.6(MTMR2):c.1375C>A (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1377A>T (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1386+13C>T
|
|
|
NM_016156.6(MTMR2):c.1386+17G>A
|
|
|
NM_016156.6(MTMR2):c.1387-13_1387-12del
|
|
|
NM_016156.6(MTMR2):c.1387-3C>T
|
rs2135417340
|
|
NM_016156.6(MTMR2):c.1387-8T>C
|
|
|
NM_016156.6(MTMR2):c.1389A>G (p.Arg463=)
|
rs2135417320
|
|
NM_016156.6(MTMR2):c.1410C>T (p.Asn470=)
|
|
|
NM_016156.6(MTMR2):c.1411C>T (p.His471Tyr)
|
rs1193305699
|
|
NM_016156.6(MTMR2):c.141A>G (p.Ser47=)
|
|
|
NM_016156.6(MTMR2):c.1425C>T (p.Asp475=)
|
rs2135417226
|
|
NM_016156.6(MTMR2):c.1431G>C (p.Ser477=)
|
rs200285624
|
|
NM_016156.6(MTMR2):c.1434T>G (p.Pro478=)
|
rs2135417185
|
|
NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs)
|
rs1590974596
|
|
NM_016156.6(MTMR2):c.1457G>C (p.Cys486Ser)
|
rs765313279
|
|
NM_016156.6(MTMR2):c.1458T>C (p.Cys486=)
|
|
|
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs)
|
rs758637255
|
|
NM_016156.6(MTMR2):c.1462T>C (p.Trp488Arg)
|
|
|
NM_016156.6(MTMR2):c.1479+19_1479+23del
|
|
|
NM_016156.6(MTMR2):c.1480-18G>A
|
|
|
NM_016156.6(MTMR2):c.1480-4G>C
|
rs1590971136
|
|
NM_016156.6(MTMR2):c.1531C>T (p.His511Tyr)
|
rs761100126
|
|
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)
|
rs1555057316
|
|
NM_016156.6(MTMR2):c.1552G>A (p.Gly518Arg)
|
rs1014132718
|
|
NM_016156.6(MTMR2):c.155C>T (p.Thr52Ile)
|
rs2135548901
|
|
NM_016156.6(MTMR2):c.1562T>A (p.Leu521His)
|
rs1565344022
|
|
NM_016156.6(MTMR2):c.157T>A (p.Ser53Thr)
|
rs2135548895
|
|
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
|
rs1863365049
|
|
NM_016156.6(MTMR2):c.1593+9T>G
|
rs1590970870
|
|
NM_016156.6(MTMR2):c.1594-4A>G
|
rs1863282999
|
|
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.163G>A (p.Asp55Asn)
|
|
|
NM_016156.6(MTMR2):c.1641G>A (p.Gln547=)
|
|
|
NM_016156.6(MTMR2):c.1643T>A (p.Leu548Gln)
|
rs2135402121
|
|
NM_016156.6(MTMR2):c.1648G>T (p.Asp550Tyr)
|
rs2135402110
|
|
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu)
|
rs1863277955
|
|
NM_016156.6(MTMR2):c.1667A>G (p.Tyr556Cys)
|
|
|
NM_016156.6(MTMR2):c.1674C>T (p.Ser558=)
|
rs1555056924
|
|
NM_016156.6(MTMR2):c.1682A>C (p.Asn561Thr)
|
|
|
NM_016156.6(MTMR2):c.1695T>C (p.Tyr565=)
|
rs1555056916
|
|
NM_016156.6(MTMR2):c.1707C>T (p.Ser569=)
|
|
|
NM_016156.6(MTMR2):c.1721A>G (p.Glu574Gly)
|
rs771548803
|
|
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val)
|
rs1863269909
|
|
NM_016156.6(MTMR2):c.1734A>G (p.Gly578=)
|
|
|
NM_016156.6(MTMR2):c.1756C>G (p.Arg586Gly)
|
|
|
NM_016156.6(MTMR2):c.1756C>T (p.Arg586Trp)
|
|
|
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr)
|
rs1863268067
|
|
NM_016156.6(MTMR2):c.1770+12A>G
|
rs1863265850
|
|
NM_016156.6(MTMR2):c.1770+15A>G
|
|
|
NM_016156.6(MTMR2):c.1770+18T>C
|
|
|
NM_016156.6(MTMR2):c.1770+20C>A
|
|
|
NM_016156.6(MTMR2):c.1770+3A>T
|
|
|
NM_016156.6(MTMR2):c.1770+4T>C
|
rs1565342479
|
|
NM_016156.6(MTMR2):c.1770+7G>C
|
rs908222470
|
|
NM_016156.6(MTMR2):c.1770+9_1770+20del
|
rs958180213
|
|
NM_016156.6(MTMR2):c.1771-17_1771-16del
|
|
|
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser)
|
rs749010549
|
|
NM_016156.6(MTMR2):c.1776T>C (p.Pro592=)
|
|
|
NM_016156.6(MTMR2):c.1776T>G (p.Pro592=)
|
rs1590968097
|
|
NM_016156.6(MTMR2):c.177T>G (p.Pro59=)
|
|
|
NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)
|
|
|
NM_016156.6(MTMR2):c.1810C>A (p.Arg604=)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg)
|
|
|
NM_016156.6(MTMR2):c.1829_1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter)
|
rs886048770
|
|
NM_016156.6(MTMR2):c.1847G>A (p.Arg616Lys)
|
rs2135399090
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)
|
rs769866540
|
|
NM_016156.6(MTMR2):c.1852A>C (p.Ile618Leu)
|
rs1392067749
|
|
NM_016156.6(MTMR2):c.1856C>G (p.Ser619Cys)
|
|
|
NM_016156.6(MTMR2):c.186+19A>T
|
rs12385798
|
|
NM_016156.6(MTMR2):c.186+19_186+20delinsTA
|
|
|
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro)
|
rs371925152
|
|
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala)
|
rs770755992
|
|
NM_016156.6(MTMR2):c.186G>T (p.Arg62Ser)
|
rs2135548808
|
|
NM_016156.6(MTMR2):c.187-16G>A
|
|
|
NM_016156.6(MTMR2):c.187-16G>T
|
|
|
NM_016156.6(MTMR2):c.187-17dup
|
rs1195059303
|
|
NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)
|
|
|
NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys)
|
rs1863216623
|
|
NM_016156.6(MTMR2):c.1882A>C (p.Arg628=)
|
|
|
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs)
|
rs751292488
|
|
NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser)
|
rs747684213
|
|
NM_016156.6(MTMR2):c.1896T>G (p.Pro632=)
|
rs780764646
|
|
NM_016156.6(MTMR2):c.18C>T (p.Ser6=)
|
|
|
NM_016156.6(MTMR2):c.1916del (p.Val639fs)
|
rs779740723
|
|
NM_016156.6(MTMR2):c.1917C>G (p.Val639=)
|
|
|
NM_016156.6(MTMR2):c.1923T>C (p.Thr641=)
|
|
|
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe)
|
rs1867037031
|
|
NM_016156.6(MTMR2):c.223G>C (p.Glu75Gln)
|
rs1237939737
|
|
NM_016156.6(MTMR2):c.22G>C (p.Glu8Gln)
|
|
|
NM_016156.6(MTMR2):c.232T>A (p.Leu78Met)
|
rs750344055
|
|
NM_016156.6(MTMR2):c.24G>C (p.Glu8Asp)
|
rs2135659936
|
|
NM_016156.6(MTMR2):c.262+5G>A
|
rs1565361115
|
|
NM_016156.6(MTMR2):c.263-14T>C
|
|
|
NM_016156.6(MTMR2):c.263-20_263-19del
|
|
|
NM_016156.6(MTMR2):c.263-9C>A
|
rs200746130
|
|
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met)
|
rs769020850
|
|
NM_016156.6(MTMR2):c.305G>A (p.Arg102Gln)
|
rs1864454618
|
|
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu)
|
rs1590997541
|
|
NM_016156.6(MTMR2):c.30T>C (p.Leu10=)
|
|
|
NM_016156.6(MTMR2):c.313C>G (p.Leu105Val)
|
rs2135475998
|
|
NM_016156.6(MTMR2):c.349A>G (p.Met117Val)
|
rs2135475834
|
|
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys)
|
rs1864451374
|
|
NM_016156.6(MTMR2):c.355C>G (p.Arg119Gly)
|
rs142774695
|
|
NM_016156.6(MTMR2):c.355C>T (p.Arg119Trp)
|
|
|
NM_016156.6(MTMR2):c.357+16G>C
|
|
|
NM_016156.6(MTMR2):c.358-14_358-12del
|
|
|
NM_016156.6(MTMR2):c.358-15T>C
|
|
|
NM_016156.6(MTMR2):c.358-8T>C
|
|
|
NM_016156.6(MTMR2):c.370_372del (p.Val124del)
|
rs2135475047
|
|
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
|
|
|
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala)
|
rs1864439728
|
|
NM_016156.6(MTMR2):c.408A>C (p.Glu136Asp)
|
rs1555065024
|
|
NM_016156.6(MTMR2):c.42G>A (p.Pro14=)
|
|
|
NM_016156.6(MTMR2):c.431G>A (p.Arg144Gln)
|
rs1555065007
|
|
NM_016156.6(MTMR2):c.432_434del (p.Gly145del)
|
rs1864437836
|
|
NM_016156.6(MTMR2):c.444T>G (p.Ser148=)
|
rs1555065002
|
|
NM_016156.6(MTMR2):c.450A>T (p.Gly150=)
|
|
|
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs)
|
rs1590997023
|
|
NM_016156.6(MTMR2):c.45G>A (p.Ala15=)
|
|
|
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)
|
rs1358449243
|
|
NM_016156.6(MTMR2):c.468+12_468+16del
|
|
|
NM_016156.6(MTMR2):c.468+17G>A
|
|
|
NM_016156.6(MTMR2):c.469-3T>C
|
rs191224855
|
|
NM_016156.6(MTMR2):c.483A>G (p.Leu161=)
|
rs2135464887
|
|
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
|
|
|
NM_016156.6(MTMR2):c.48G>C (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.48G>T (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.506G>A (p.Gly169Glu)
|
rs1864296648
|
|
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp)
|
rs1419183415
|
|
NM_016156.6(MTMR2):c.523A>G (p.Ile175Val)
|
rs1864295304
|
|
NM_016156.6(MTMR2):c.533A>G (p.Asn178Ser)
|
rs1055618502
|
|
NM_016156.6(MTMR2):c.546T>C (p.Tyr182=)
|
|
|
NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser)
|
rs577896427
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_016156.6(MTMR2):c.571-12_571-11del
|
|
|
NM_016156.6(MTMR2):c.571-8_571-7insG
|
|
|
NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
|
|
|
NM_016156.6(MTMR2):c.59C>T (p.Pro20Leu)
|
rs952672162
|
|
NM_016156.6(MTMR2):c.600A>G (p.Val200=)
|
|
|
NM_016156.6(MTMR2):c.60C>T (p.Pro20=)
|
|
|
NM_016156.6(MTMR2):c.62G>A (p.Ser21Asn)
|
|
|
NM_016156.6(MTMR2):c.630C>T (p.Asp210=)
|
|
|
NM_016156.6(MTMR2):c.637T>G (p.Leu213Val)
|
|
|
NM_016156.6(MTMR2):c.651G>A (p.Arg217=)
|
|
|
NM_016156.6(MTMR2):c.654+11T>C
|
|
|
NM_016156.6(MTMR2):c.655-13A>C
|
|
|
NM_016156.6(MTMR2):c.655-4G>C
|
rs745547533
|
|
NM_016156.6(MTMR2):c.655-4G>T
|
rs745547533
|
|
NM_016156.6(MTMR2):c.655-7C>T
|
rs775390447
|
|
NM_016156.6(MTMR2):c.655-8A>C
|
|
|
NM_016156.6(MTMR2):c.679A>G (p.Ile227Val)
|
|
|
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr)
|
rs1225667280
|
|
NM_016156.6(MTMR2):c.698G>A (p.Arg233Gln)
|
rs758629389
|
|
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn)
|
rs1863982879
|
|
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser)
|
rs540766159
|
|
NM_016156.6(MTMR2):c.752C>T (p.Pro251Leu)
|
|
|
NM_016156.6(MTMR2):c.753TGA[1] (p.Asp252del)
|
rs878855016
|
|
NM_016156.6(MTMR2):c.75G>C (p.Leu25Phe)
|
rs1376231939
|
|
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)
|
rs769429967
|
|
NM_016156.6(MTMR2):c.80+14C>T
|
|
|
NM_016156.6(MTMR2):c.80+14_80+43del
|
|
|
NM_016156.6(MTMR2):c.80+17G>T
|
|
|
NM_016156.6(MTMR2):c.80+19G>T
|
|
|
NM_016156.6(MTMR2):c.80+6C>T
|
|
|
NM_016156.6(MTMR2):c.80+8G>A
|
rs1867028752
|
|
NM_016156.6(MTMR2):c.800T>C (p.Ile267Thr)
|
rs1863978401
|
|
NM_016156.6(MTMR2):c.804+16G>A
|
rs2135442209
|
|
NM_016156.6(MTMR2):c.804+1G>C
|
rs1565351898
|
|
NM_016156.6(MTMR2):c.804+2T>G
|
rs1555061026
|
|
NM_016156.6(MTMR2):c.804+7A>G
|
rs1159867051
|
|
NM_016156.6(MTMR2):c.804+8G>T
|
|
|
NM_016156.6(MTMR2):c.805-13T>A
|
|
|
NM_016156.6(MTMR2):c.805-15T>A
|
|
|
NM_016156.6(MTMR2):c.805-16T>A
|
|
|
NM_016156.6(MTMR2):c.805-19C>G
|
|
|
NM_016156.6(MTMR2):c.805-4T>G
|
|
|
NM_016156.6(MTMR2):c.805-6A>G
|
rs766235741
|
|
NM_016156.6(MTMR2):c.805-7C>G
|
|
|
NM_016156.6(MTMR2):c.81-12T>C
|
|
|
NM_016156.6(MTMR2):c.81-13T>C
|
|
|
NM_016156.6(MTMR2):c.81-16C>T
|
|
|
NM_016156.6(MTMR2):c.81-17A>G
|
|
|
NM_016156.6(MTMR2):c.810A>G (p.Leu270=)
|
|
|
NM_016156.6(MTMR2):c.812C>T (p.Ser271Leu)
|
|
|
NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)
|
rs757563721
|
|
NM_016156.6(MTMR2):c.840A>G (p.Thr280=)
|
|
|
NM_016156.6(MTMR2):c.843C>A (p.Ile281=)
|
rs1217314381
|
|
NM_016156.6(MTMR2):c.871G>A (p.Val291Met)
|
|
|
NM_016156.6(MTMR2):c.874del (p.Ser292fs)
|
rs1863944217
|
|
NM_016156.6(MTMR2):c.884G>T (p.Arg295Leu)
|
rs777854770
|
|
NM_016156.6(MTMR2):c.88A>G (p.Thr30Ala)
|
|
|
NM_016156.6(MTMR2):c.892G>A (p.Glu298Lys)
|
rs2135439554
|
|
NM_016156.6(MTMR2):c.8A>G (p.Lys3Arg)
|
rs3824874
|
|
NM_016156.6(MTMR2):c.907C>G (p.Leu303Val)
|
|
|
NM_016156.6(MTMR2):c.909T>G (p.Leu303=)
|
|
|
NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
|
|
|
NM_016156.6(MTMR2):c.946A>T (p.Ile316Phe)
|
|
|
NM_016156.6(MTMR2):c.947dup (p.Phe317fs)
|
|
|
NM_016156.6(MTMR2):c.94C>T (p.His32Tyr)
|
rs1591025020
|
|
NM_016156.6(MTMR2):c.959A>G (p.Asp320Gly)
|
|
|
NM_016156.6(MTMR2):c.965G>A (p.Arg322Gln)
|
rs2135439249
|
|
NM_016156.6(MTMR2):c.971G>A (p.Ser324Asn)
|
rs2135439231
|
|
NM_016156.6(MTMR2):c.981T>G (p.Ala327=)
|
rs2135439193
|
|
NM_016156.6(MTMR2):c.993+1G>A
|
rs1555060614
|
|
NM_016156.6(MTMR2):c.993+20A>G
|
|
|
NM_016156.6(MTMR2):c.994-15T>C
|
|
|
NM_016156.6(MTMR2):c.999G>A (p.Lys333=)
|
|
|
NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
|
|
|
NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile)
|
rs759748392
|
|
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
|
|
NM_018972.4(GDAP1):c.102= (p.Ser34=)
|
|
|
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn)
|
rs1380854548
|
|
NM_018972.4(GDAP1):c.1042A>G (p.Ile348Val)
|
rs775559344
|
|
NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr)
|
|
|
NM_018972.4(GDAP1):c.105C>T (p.Phe35=)
|
|
|
NM_018972.4(GDAP1):c.1063C>A (p.Pro355Thr)
|
rs1219244427
|
|
NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser)
|
rs1219244427
|
|
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp)
|
rs765609133
|
|
NM_018972.4(GDAP1):c.1067A>G (p.Asn356Ser)
|
|
|
NM_018972.4(GDAP1):c.108C>A (p.Ser36Arg)
|
|
|
NM_018972.4(GDAP1):c.111T>G (p.Ser37=)
|
|
|
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
|
rs761035569
|
|
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
|
rs778547659
|
|
NM_018972.4(GDAP1):c.117+19G>A
|
|
|
NM_018972.4(GDAP1):c.117+1G>A
|
rs1808804404
|
|
NM_018972.4(GDAP1):c.117+3A>G
|
|
|
NM_018972.4(GDAP1):c.118-15T>C
|
|
|
NM_018972.4(GDAP1):c.118-16G>A
|
rs757760120
|
|
NM_018972.4(GDAP1):c.118-3C>G
|
rs750762719
|
|
NM_018972.4(GDAP1):c.118-7C>G
|
|
|
NM_018972.4(GDAP1):c.118-8T>G
|
|
|
NM_018972.4(GDAP1):c.118-9C>A
|
|
|
NM_018972.4(GDAP1):c.11G>A (p.Arg4Lys)
|
|
|
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
|
|
|
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)
|
rs2131493453
|
|
NM_018972.4(GDAP1):c.166G>A (p.Val56Ile)
|
rs1808860135
|
|
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
|
|
|
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)
|
rs863224774
|
|
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)
|
rs774799079
|
|
NM_018972.4(GDAP1):c.178T>G (p.Leu60Val)
|
|
|
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn)
|
rs1808861763
|
|
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
|
rs1808862287
|
|
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)
|
rs773136934
|
|
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
|
|
|
NM_018972.4(GDAP1):c.1del (p.Met1fs)
|
|
|
NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)
|
|
|
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
|
rs770714080
|
|
NM_018972.4(GDAP1):c.215A>G (p.Asn72Ser)
|
|
|
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)
|
rs1586794015
|
|
NM_018972.4(GDAP1):c.235_239del (p.Val79fs)
|
rs1243845978
|
|
NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)
|
|
|
NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg)
|
rs879253884
|
|
NM_018972.4(GDAP1):c.243C>T (p.Ile81=)
|
rs2131496261
|
|
NM_018972.4(GDAP1):c.244C>A (p.His82Asn)
|
|
|
NM_018972.4(GDAP1):c.245A>G (p.His82Arg)
|
|
|
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)
|
rs1586795373
|
|
NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln)
|
|
|
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)
|
rs1808867656
|
|
NM_018972.4(GDAP1):c.250del (p.Glu84fs)
|
rs1241632021
|
|
NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
|
|
|
NM_018972.4(GDAP1):c.259A>G (p.Ile87Val)
|
rs2131496333
|
|
NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
|
|
|
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)
|
rs2131493519
|
|
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr)
|
rs1808871960
|
|
NM_018972.4(GDAP1):c.310+1G>A
|
rs1808872865
|
|
NM_018972.4(GDAP1):c.310+20C>G
|
|
|
NM_018972.4(GDAP1):c.310+4A>G
|
rs1808873168
|
|
NM_018972.4(GDAP1):c.310+5T>C
|
|
|
NM_018972.4(GDAP1):c.310+8del
|
rs1279865642
|
|
NM_018972.4(GDAP1):c.311-11G>A
|
|
|
NM_018972.4(GDAP1):c.311-1790_408del
|
|
|
NM_018972.4(GDAP1):c.311-6T>C
|
|
|
NM_018972.4(GDAP1):c.311-6T>G
|
|
|
NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)
|
|
|
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys)
|
rs1809288442
|
|
NM_018972.4(GDAP1):c.357A>G (p.Pro119=)
|
rs2131512519
|
|
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
|
rs1174933176
|
|
NM_018972.4(GDAP1):c.360G>A (p.Arg120=)
|
|
|
NM_018972.4(GDAP1):c.361del (p.Val121fs)
|
rs2131512540
|
|
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
|
|
|
NM_018972.4(GDAP1):c.367del (p.His123fs)
|
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)
|
|
|
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
|
rs879254005
|
|
NM_018972.4(GDAP1):c.387C>T (p.Asp129=)
|
|
|
NM_018972.4(GDAP1):c.391T>C (p.Leu131=)
|
|
|
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
|
rs1586803187
|
|
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
|
|
|
NM_018972.4(GDAP1):c.39C>A (p.Pro13=)
|
|
|
NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly)
|
|
|
NM_018972.4(GDAP1):c.405C>T (p.Ala135=)
|
rs763427538
|
|
NM_018972.4(GDAP1):c.408T>C (p.Tyr136=)
|
rs766998162
|
|
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr)
|
rs570990910
|
|
NM_018972.4(GDAP1):c.445G>C (p.Asp149His)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala)
|
|
|
NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly)
|
rs1586803296
|
|
NM_018972.4(GDAP1):c.449C>T (p.Ser150Phe)
|
|
|
NM_018972.4(GDAP1):c.450C>T (p.Ser150=)
|
rs752334269
|
|
NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)
|
|
|
NM_018972.4(GDAP1):c.456C>T (p.Ile152=)
|
|
|
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)
|
rs2131512957
|
|
NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)
|
|
|
NM_018972.4(GDAP1):c.45G>A (p.Arg15=)
|
rs749658930
|
|
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)
|
rs1809302381
|
|
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)
|
rs397515441
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly)
|
rs1809303639
|
|
NM_018972.4(GDAP1):c.477G>T (p.Arg159Ser)
|
|
|
NM_018972.4(GDAP1):c.480T>A (p.Ile160=)
|
rs1586803400
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.484+19G>A
|
|
|
NM_018972.4(GDAP1):c.484+20A>G
|
|
|
NM_018972.4(GDAP1):c.484+3A>G
|
|
|
NM_018972.4(GDAP1):c.484+6T>C
|
rs2131513088
|
|
NM_018972.4(GDAP1):c.484+6_484+19dup
|
|
|
NM_018972.4(GDAP1):c.485-17A>C
|
|
|
NM_018972.4(GDAP1):c.485-2del
|
|
|
NM_018972.4(GDAP1):c.485-3C>T
|
rs761332159
|
|
NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)
|
|
|
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)
|
rs1809382139
|
|
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs)
|
rs1221804567
|
|
NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)
|
|
|
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu)
|
rs1809384050
|
|
NM_018972.4(GDAP1):c.531A>G (p.Glu177=)
|
rs1809386519
|
|
NM_018972.4(GDAP1):c.536del (p.Pro179fs)
|
rs1169652308
|
|
NM_018972.4(GDAP1):c.543A>G (p.Leu181=)
|
rs779132911
|
|
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr)
|
rs1809389310
|
|
NM_018972.4(GDAP1):c.55A>G (p.Lys19Glu)
|
|
|
NM_018972.4(GDAP1):c.568A>G (p.Lys190Glu)
|
rs1809389662
|
|
NM_018972.4(GDAP1):c.571C>A (p.Arg191=)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)
|
rs1085307665
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.579del (p.Lys193fs)
|
rs1060500979
|
|
NM_018972.4(GDAP1):c.580-15T>C
|
|
|
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val)
|
rs1057524488
|
|
NM_018972.4(GDAP1):c.608A>G (p.Lys203Arg)
|
|
|
NM_018972.4(GDAP1):c.618G>A (p.Lys206=)
|
|
|
NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn)
|
rs780629692
|
|
NM_018972.4(GDAP1):c.618dup (p.Lys207fs)
|
rs1809447471
|
|
NM_018972.4(GDAP1):c.61G>A (p.Asp21Asn)
|
rs1367421978
|
|
NM_018972.4(GDAP1):c.633G>A (p.Glu211=)
|
rs2131519229
|
|
NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)
|
|
|
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)
|
rs556827873
|
|
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala)
|
rs1586806206
|
|
NM_018972.4(GDAP1):c.65C>G (p.Ala22Gly)
|
|
|
NM_018972.4(GDAP1):c.65C>T (p.Ala22Val)
|
|
|
NM_018972.4(GDAP1):c.666A>G (p.Glu222=)
|
|
|
NM_018972.4(GDAP1):c.66G>A (p.Ala22=)
|
|
|
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro)
|
rs1586806229
|
|
NM_018972.4(GDAP1):c.672A>G (p.Gln224=)
|
|
|
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
|
|
|
NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)
|
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018972.4(GDAP1):c.694+3A>G
|
|
|
NM_018972.4(GDAP1):c.694+8C>A
|
|
|
NM_018972.4(GDAP1):c.695-19T>C
|
|
|
NM_018972.4(GDAP1):c.695-1G>A
|
rs1809496317
|
|
NM_018972.4(GDAP1):c.695-20A>G
|
|
|
NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)
|
|
|
NM_018972.4(GDAP1):c.6T>C (p.Ala2=)
|
|
|
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)
|
rs1554548334
|
|
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
|
|
|
NM_018972.4(GDAP1):c.716T>A (p.Leu239His)
|
|
|
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
|
rs121908115
|
|
NM_018972.4(GDAP1):c.72T>G (p.Val24=)
|
rs142674939
|
|
NM_018972.4(GDAP1):c.756T>C (p.Ala252=)
|
|
|
NM_018972.4(GDAP1):c.75G>A (p.Lys25=)
|
rs761730309
|
|
NM_018972.4(GDAP1):c.763T>C (p.Leu255=)
|
rs2131521525
|
|
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe)
|
rs1809501318
|
|
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)
|
rs778557691
|
|
NM_018972.4(GDAP1):c.77T>C (p.Leu26Pro)
|
|
|
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu)
|
rs1563445155
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_018972.4(GDAP1):c.793A>G (p.Arg265Gly)
|
|
|
NM_018972.4(GDAP1):c.805G>A (p.Gly269Arg)
|
rs2131521657
|
|
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
|
rs150989205
|
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
|
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala)
|
rs1563445213
|
|
NM_018972.4(GDAP1):c.834C>G (p.Thr278=)
|
rs2131521778
|
|
NM_018972.4(GDAP1):c.837T>C (p.Tyr279=)
|
rs1309093739
|
|
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
|
rs1417699318
|
|
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
|
rs1586807387
|
|
NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr)
|
|
|
NM_018972.4(GDAP1):c.85T>G (p.Tyr29Asp)
|
|
|
NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)
|
|
|
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser)
|
rs1563437000
|
|
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
|
rs1809508613
|
|
NM_018972.4(GDAP1):c.874G>C (p.Val292Leu)
|
rs767553697
|
|
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg)
|
rs976792279
|
|
NM_018972.4(GDAP1):c.897A>G (p.Ile299Met)
|
|
|
NM_018972.4(GDAP1):c.89A>T (p.His30Leu)
|
rs896431562
|
|
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
|
rs1586807478
|
|
NM_018972.4(GDAP1):c.907G>A (p.Ala303Thr)
|
rs368055667
|
|
NM_018972.4(GDAP1):c.908C>T (p.Ala303Val)
|
rs1440025936
|
|
NM_018972.4(GDAP1):c.912G>T (p.Val304=)
|
|
|
NM_018972.4(GDAP1):c.913C>T (p.Leu305=)
|
|
|
NM_018972.4(GDAP1):c.921A>C (p.Thr307=)
|
|
|
NM_018972.4(GDAP1):c.921A>G (p.Thr307=)
|
|
|
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu)
|
rs1809513515
|
|
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)
|
rs1323153568
|
|
NM_018972.4(GDAP1):c.930G>A (p.Arg310=)
|
|
|
NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)
|
|
|
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
|
|
|
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)
|
rs1809514361
|
|
NM_018972.4(GDAP1):c.942A>G (p.Lys314=)
|
rs771751303
|
|
NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)
|
|
|
NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)
|
|
|
NM_018972.4(GDAP1):c.951A>C (p.Pro317=)
|
|
|
NM_018972.4(GDAP1):c.966G>A (p.Thr322=)
|
|
|
NM_018972.4(GDAP1):c.966G>C (p.Thr322=)
|
|
|
NM_018972.4(GDAP1):c.96G>T (p.Thr32=)
|
|
|
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
|
rs1176626666
|
|
NM_018972.4(GDAP1):c.975G>A (p.Val325=)
|
|
|
NM_018972.4(GDAP1):c.975G>T (p.Val325=)
|
|
|
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp)
|
rs1416176817
|
|
NM_018972.4(GDAP1):c.97C>T (p.His33Tyr)
|
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|
NM_020631.6(PLEKHG5):c.1002G>A (p.Gln334=)
|
|
|
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
|
rs1644626732
|
|
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1029G>A (p.Glu343=)
|
|
|
NM_020631.6(PLEKHG5):c.102A>G (p.Ala34=)
|
rs771144155
|
|
NM_020631.6(PLEKHG5):c.1032G>T (p.Leu344=)
|
|
|
NM_020631.6(PLEKHG5):c.1033C>T (p.Leu345=)
|
|
|
NM_020631.6(PLEKHG5):c.1035G>A (p.Leu345=)
|
|
|
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg)
|
rs2148587188
|
|
NM_020631.6(PLEKHG5):c.1047C>T (p.Ala349=)
|
rs187107798
|
|
NM_020631.6(PLEKHG5):c.1050C>G (p.Ser350=)
|
rs1290410043
|
|
NM_020631.6(PLEKHG5):c.1051T>C (p.Tyr351His)
|
rs1569865241
|
|
NM_020631.6(PLEKHG5):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_020631.6(PLEKHG5):c.1064T>C (p.Leu355Pro)
|
rs372001535
|
|
NM_020631.6(PLEKHG5):c.1065G>T (p.Leu355=)
|
rs2148587100
|
|
NM_020631.6(PLEKHG5):c.1073TCA[1] (p.Ile359del)
|
|
|
NM_020631.6(PLEKHG5):c.1080+11G>A
|
|
|
NM_020631.6(PLEKHG5):c.1080+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+13T>C
|
|
|
NM_020631.6(PLEKHG5):c.1080+15C>G
|
|
|
NM_020631.6(PLEKHG5):c.1080+15C>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+16G>A
|
|
|
NM_020631.6(PLEKHG5):c.1080+16G>C
|
|
|
NM_020631.6(PLEKHG5):c.1080+16G>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+17C>T
|
|
|
NM_020631.6(PLEKHG5):c.1080+18T>A
|
|
|
NM_020631.6(PLEKHG5):c.1080+5G>T
|
rs1644623669
|
|
NM_020631.6(PLEKHG5):c.1081-11T>C
|
|
|
NM_020631.6(PLEKHG5):c.1081-12C>G
|
|
|
NM_020631.6(PLEKHG5):c.1081-8T>C
|
|
|
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu)
|
|
|
NM_020631.6(PLEKHG5):c.1098C>G (p.Leu366=)
|
rs1553174372
|
|
NM_020631.6(PLEKHG5):c.1099C>T (p.Leu367=)
|
|
|
NM_020631.6(PLEKHG5):c.1111G>A (p.Glu371Lys)
|
rs2148585629
|
|
NM_020631.6(PLEKHG5):c.1112A>C (p.Glu371Ala)
|
rs1569861657
|
|
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu)
|
rs1644599017
|
|
NM_020631.6(PLEKHG5):c.111G>C (p.Leu37Phe)
|
rs1244644253
|
|
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
|
|
|
NM_020631.6(PLEKHG5):c.112GAG[8] (p.Glu43_Ser44insGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu43_Ser44insGluGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.1131+10G>A
|
|
|
NM_020631.6(PLEKHG5):c.1131+15G>A
|
|
|
NM_020631.6(PLEKHG5):c.1131+18G>T
|
|
|
NM_020631.6(PLEKHG5):c.1131+18_1131+34del
|
|
|
NM_020631.6(PLEKHG5):c.1131+19G>A
|
rs746822140
|
|
NM_020631.6(PLEKHG5):c.1131+19G>C
|
|
|
NM_020631.6(PLEKHG5):c.1132-15dup
|
|
|
NM_020631.6(PLEKHG5):c.1132-1G>T
|
rs2148585199
|
|
NM_020631.6(PLEKHG5):c.1132-20G>C
|
|
|
NM_020631.6(PLEKHG5):c.1132-3del
|
|
|
NM_020631.6(PLEKHG5):c.1132-6G>C
|
rs1569860714
|
|
NM_020631.6(PLEKHG5):c.1132-7C>A
|
|
|
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu)
|
rs1020039192
|
|
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs)
|
rs1644591704
|
|
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met)
|
rs1644590923
|
|
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser)
|
rs1644590851
|
|
NM_020631.6(PLEKHG5):c.1163C>G (p.Pro388Arg)
|
rs746094917
|
|
NM_020631.6(PLEKHG5):c.1166A>T (p.Glu389Val)
|
|
|
NM_020631.6(PLEKHG5):c.1170C>A (p.Ile390=)
|
|
|
NM_020631.6(PLEKHG5):c.1173G>T (p.Ala391=)
|
rs1224927053
|
|
NM_020631.6(PLEKHG5):c.1200C>T (p.Ser400=)
|
|
|
NM_020631.6(PLEKHG5):c.1209G>T (p.Ala403=)
|
|
|
NM_020631.6(PLEKHG5):c.1215G>A (p.Val405=)
|
rs757671338
|
|
NM_020631.6(PLEKHG5):c.1215G>C (p.Val405=)
|
|
|
NM_020631.6(PLEKHG5):c.1218G>A (p.Leu406=)
|
|
|
NM_020631.6(PLEKHG5):c.1230G>C (p.Arg410=)
|
|
|
NM_020631.6(PLEKHG5):c.1248A>G (p.Leu416=)
|
|
|
NM_020631.6(PLEKHG5):c.1251G>A (p.Gln417=)
|
|
|
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His)
|
rs568915094
|
|
NM_020631.6(PLEKHG5):c.1256G>A (p.Gly419Glu)
|
rs768648425
|
|
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
|
|
|
NM_020631.6(PLEKHG5):c.1263C>T (p.Phe421=)
|
|
|
NM_020631.6(PLEKHG5):c.1266C>T (p.Leu422=)
|
|
|
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala)
|
rs1209779631
|
|
NM_020631.6(PLEKHG5):c.1278G>A (p.Lys426=)
|
|
|
NM_020631.6(PLEKHG5):c.1281+14C>T
|
|
|
NM_020631.6(PLEKHG5):c.1281+19G>T
|
|
|
NM_020631.6(PLEKHG5):c.1281+19_1281+30del
|
|
|
NM_020631.6(PLEKHG5):c.1281+8C>G
|
|
|
NM_020631.6(PLEKHG5):c.1281+9G>A
|
|
|
NM_020631.6(PLEKHG5):c.1282-18T>G
|
|
|
NM_020631.6(PLEKHG5):c.1282-19_1282-18insG
|
|
|
NM_020631.6(PLEKHG5):c.1282-6G>T
|
|
|
NM_020631.6(PLEKHG5):c.1282-7G>A
|
rs780551776
|
|
NM_020631.6(PLEKHG5):c.1282-7G>C
|
|
|
NM_020631.6(PLEKHG5):c.1282-7G>T
|
|
|
NM_020631.6(PLEKHG5):c.1293C>G (p.Leu431=)
|
|
|
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys)
|
rs1569857188
|
|
NM_020631.6(PLEKHG5):c.1314C>T (p.Tyr438=)
|
|
|
NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)
|
|
|
NM_020631.6(PLEKHG5):c.1322AGG[4] (p.Glu443_Gly444insGlu)
|
rs2148583756
|
|
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1334G>T (p.Cys445Phe)
|
|
|
NM_020631.6(PLEKHG5):c.1335C>T (p.Cys445=)
|
|
|
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val)
|
|
|
NM_020631.6(PLEKHG5):c.1344C>T (p.Tyr448=)
|
|
|
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr)
|
rs1553174146
|
|
NM_020631.6(PLEKHG5):c.1353C>T (p.Gly451=)
|
|
|
NM_020631.6(PLEKHG5):c.1354C>T (p.Leu452=)
|
|
|
NM_020631.6(PLEKHG5):c.1362C>T (p.Arg454=)
|
rs1644560362
|
|
NM_020631.6(PLEKHG5):c.1374C>T (p.Leu458=)
|
rs1346162495
|
|
NM_020631.6(PLEKHG5):c.1377C>T (p.Phe459=)
|
|
|
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln)
|
rs1309731055
|
|
NM_020631.6(PLEKHG5):c.1380G>A (p.Arg460=)
|
|
|
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)
|
rs2148583545
|
|
NM_020631.6(PLEKHG5):c.1392+10_1392+24del
|
rs1064795162
|
|
NM_020631.6(PLEKHG5):c.1392+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.1392+13G>C
|
|
|
NM_020631.6(PLEKHG5):c.1392+14_1392+34del
|
|
|
NM_020631.6(PLEKHG5):c.1392+15G>A
|
rs1190288914
|
|
NM_020631.6(PLEKHG5):c.1392+16C>T
|
|
|
NM_020631.6(PLEKHG5):c.1392+17C>T
|
|
|
NM_020631.6(PLEKHG5):c.1392+8C>T
|
rs771832632
|
|
NM_020631.6(PLEKHG5):c.1392+9G>C
|
|
|
NM_020631.6(PLEKHG5):c.1393-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.1393-14C>T
|
|
|
NM_020631.6(PLEKHG5):c.1393-15A>G
|
|
|
NM_020631.6(PLEKHG5):c.1393-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.1393-4G>A
|
|
|
NM_020631.6(PLEKHG5):c.1393-6C>A
|
|
|
NM_020631.6(PLEKHG5):c.1393-8dup
|
|
|
NM_020631.6(PLEKHG5):c.1393-9C>A
|
|
|
NM_020631.6(PLEKHG5):c.1393-9C>G
|
|
|
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr)
|
|
|
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro)
|
rs757292650
|
|
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
|
|
|
NM_020631.6(PLEKHG5):c.1407C>T (p.His469=)
|
|
|
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1415G>A (p.Cys472Tyr)
|
rs2148583006
|
|
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met)
|
rs1644551354
|
|
NM_020631.6(PLEKHG5):c.1423C>T (p.Leu475=)
|
rs2148582975
|
|
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn)
|
rs1243221708
|
|
NM_020631.6(PLEKHG5):c.1434C>T (p.Ser478=)
|
|
|
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn)
|
rs2148582918
|
|
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)
|
rs1644550472
|
|
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg)
|
rs2148582901
|
|
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile)
|
|
|
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
|
rs1644549927
|
|
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1458G>A (p.Gln486=)
|
|
|
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met)
|
rs534760199
|
|
NM_020631.6(PLEKHG5):c.1470G>T (p.Lys490Asn)
|
rs2148582809
|
|
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn)
|
rs1644549269
|
|
NM_020631.6(PLEKHG5):c.1476G>A (p.Pro492=)
|
|
|
NM_020631.6(PLEKHG5):c.1476G>T (p.Pro492=)
|
|
|
NM_020631.6(PLEKHG5):c.147A>G (p.Lys49=)
|
|
|
NM_020631.6(PLEKHG5):c.149+13T>C
|
|
|
NM_020631.6(PLEKHG5):c.149+13T>G
|
|
|
NM_020631.6(PLEKHG5):c.149+20G>A
|
|
|
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val)
|
rs1064796900
|
|
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly)
|
|
|
NM_020631.6(PLEKHG5):c.150-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.150-12G>A
|
|
|
NM_020631.6(PLEKHG5):c.150-15_150-13del
|
rs773870699
|
|
NM_020631.6(PLEKHG5):c.150-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.150-19C>T
|
|
|
NM_020631.6(PLEKHG5):c.150-8C>T
|
|
|
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser)
|
|
|
NM_020631.6(PLEKHG5):c.1506C>A (p.Thr502=)
|
|
|
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser)
|
rs530846615
|
|
NM_020631.6(PLEKHG5):c.1515G>A (p.Pro505=)
|
|
|
NM_020631.6(PLEKHG5):c.1518C>T (p.Arg506=)
|
|
|
NM_020631.6(PLEKHG5):c.1519G>A (p.Ala507Thr)
|
rs868002197
|
|
NM_020631.6(PLEKHG5):c.1519G>C (p.Ala507Pro)
|
rs868002197
|
|
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val)
|
rs1464559999
|
|
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr)
|
rs1475922783
|
|
NM_020631.6(PLEKHG5):c.1533C>T (p.Val511=)
|
|
|
NM_020631.6(PLEKHG5):c.1535T>C (p.Val512Ala)
|
|
|
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser)
|
rs1214327374
|
|
NM_020631.6(PLEKHG5):c.1542+10A>G
|
|
|
NM_020631.6(PLEKHG5):c.1542+16A>T
|
|
|
NM_020631.6(PLEKHG5):c.1542+18C>G
|
|
|
NM_020631.6(PLEKHG5):c.1542+18C>T
|
|
|
NM_020631.6(PLEKHG5):c.1542+19G>A
|
|
|
NM_020631.6(PLEKHG5):c.1542+19G>C
|
|
|
NM_020631.6(PLEKHG5):c.1542+1G>C
|
|
|
NM_020631.6(PLEKHG5):c.1542+8T>C
|
|
|
NM_020631.6(PLEKHG5):c.1543-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.1543-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.1543-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1543-4C>G
|
|
|
NM_020631.6(PLEKHG5):c.1543-4C>T
|
|
|
NM_020631.6(PLEKHG5):c.1543-5C>T
|
rs1281567980
|
|
NM_020631.6(PLEKHG5):c.1543-6C>T
|
|
|
NM_020631.6(PLEKHG5):c.1545C>T (p.Ile515=)
|
rs762389784
|
|
NM_020631.6(PLEKHG5):c.1548C>T (p.Gly516=)
|
|
|
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly)
|
rs777277703
|
|
NM_020631.6(PLEKHG5):c.1551C>T (p.Ser517=)
|
|
|
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu)
|
rs1464358180
|
|
NM_020631.6(PLEKHG5):c.1566C>T (p.Ile522=)
|
|
|
NM_020631.6(PLEKHG5):c.1569C>T (p.His523=)
|
rs967572264
|
|
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr)
|
rs761251191
|
|
NM_020631.6(PLEKHG5):c.1581G>A (p.Ala527=)
|
rs773262365
|
|
NM_020631.6(PLEKHG5):c.1581G>T (p.Ala527=)
|
|
|
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp)
|
rs1480269028
|
|
NM_020631.6(PLEKHG5):c.1594C>T (p.Arg532Trp)
|
|
|
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)
|
rs1557739505
|
|
NM_020631.6(PLEKHG5):c.15G>A (p.Gly5=)
|
|
|
NM_020631.6(PLEKHG5):c.1602G>A (p.Glu534=)
|
|
|
NM_020631.6(PLEKHG5):c.1617G>A (p.Ala539=)
|
|
|
NM_020631.6(PLEKHG5):c.1617G>C (p.Ala539=)
|
|
|
NM_020631.6(PLEKHG5):c.1620C>T (p.Ala540=)
|
|
|
NM_020631.6(PLEKHG5):c.1623G>A (p.Val541=)
|
|
|
NM_020631.6(PLEKHG5):c.1626G>T (p.Val542=)
|
|
|
NM_020631.6(PLEKHG5):c.1630C>T (p.Arg544Cys)
|
rs1046202834
|
|
NM_020631.6(PLEKHG5):c.1635C>T (p.Ile545=)
|
rs1569851488
|
|
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1644C>T (p.Tyr548=)
|
|
|
NM_020631.6(PLEKHG5):c.1650G>T (p.Val550=)
|
|
|
NM_020631.6(PLEKHG5):c.1653G>A (p.Val551=)
|
|
|
NM_020631.6(PLEKHG5):c.1659C>T (p.Ser553=)
|
|
|
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1677C>T (p.Asp559=)
|
|
|
NM_020631.6(PLEKHG5):c.1680+13G>A
|
|
|
NM_020631.6(PLEKHG5):c.1680+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.1680+18C>G
|
|
|
NM_020631.6(PLEKHG5):c.1680+18C>T
|
rs758693239
|
|
NM_020631.6(PLEKHG5):c.1680+1G>T
|
|
|
NM_020631.6(PLEKHG5):c.1680+7G>A
|
|
|
NM_020631.6(PLEKHG5):c.1680+7G>C
|
|
|
NM_020631.6(PLEKHG5):c.1680+7G>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-15G>A
|
|
|
NM_020631.6(PLEKHG5):c.1681-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-17A>G
|
|
|
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup
|
rs748372368
|
|
NM_020631.6(PLEKHG5):c.1681-5C>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-6C>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-8G>A
|
|
|
NM_020631.6(PLEKHG5):c.1681-9C>G
|
rs373133607
|
|
NM_020631.6(PLEKHG5):c.1681-9C>T
|
rs373133607
|
|
NM_020631.6(PLEKHG5):c.1686G>C (p.Leu562=)
|
rs1416853157
|
|
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=)
|
rs1644528365
|
|
NM_020631.6(PLEKHG5):c.1716G>A (p.Ala572=)
|
|
|
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=)
|
rs1644527800
|
|
NM_020631.6(PLEKHG5):c.1728C>T (p.Gly576=)
|
|
|
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
|
|
|
NM_020631.6(PLEKHG5):c.1734C>T (p.Ser578=)
|
|
|
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
|
|
|
NM_020631.6(PLEKHG5):c.1737G>A (p.Pro579=)
|
|
|
NM_020631.6(PLEKHG5):c.1737G>T (p.Pro579=)
|
|
|
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)
|
rs760122001
|
|
NM_020631.6(PLEKHG5):c.1743G>A (p.Glu581=)
|
rs1401679164
|
|
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly)
|
rs766560337
|
|
NM_020631.6(PLEKHG5):c.1752G>A (p.Gln584=)
|
|
|
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1776G>A (p.Arg592=)
|
|
|
NM_020631.6(PLEKHG5):c.1782G>A (p.Lys594=)
|
rs762805368
|
|
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
|
rs1644525008
|
|
NM_020631.6(PLEKHG5):c.1800+10G>A
|
|
|
NM_020631.6(PLEKHG5):c.1800+16C>A
|
|
|
NM_020631.6(PLEKHG5):c.1800+19C>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-10_1801-8del
|
|
|
NM_020631.6(PLEKHG5):c.1801-15C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-15C>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-15del
|
rs750991690
|
|
NM_020631.6(PLEKHG5):c.1801-15dup
|
|
|
NM_020631.6(PLEKHG5):c.1801-16C>A
|
rs369955570
|
|
NM_020631.6(PLEKHG5):c.1801-16C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-16C>T
|
rs369955570
|
|
NM_020631.6(PLEKHG5):c.1801-17C>A
|
|
|
NM_020631.6(PLEKHG5):c.1801-17C>G
|
rs373357833
|
|
NM_020631.6(PLEKHG5):c.1801-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-18C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-20C>G
|
|
|
NM_020631.6(PLEKHG5):c.1801-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1801A>G (p.Met601Val)
|
rs1156760922
|
|
NM_020631.6(PLEKHG5):c.1804G>A (p.Asp602Asn)
|
rs1557738049
|
|
NM_020631.6(PLEKHG5):c.1809G>A (p.Val603=)
|
|
|
NM_020631.6(PLEKHG5):c.180C>T (p.Ser60=)
|
|
|
NM_020631.6(PLEKHG5):c.1812C>T (p.Tyr604=)
|
|
|
NM_020631.6(PLEKHG5):c.1815C>T (p.Cys605=)
|
|
|
NM_020631.6(PLEKHG5):c.1827G>A (p.Thr609=)
|
|
|
NM_020631.6(PLEKHG5):c.1834C>T (p.Leu612=)
|
|
|
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu)
|
rs752514480
|
|
NM_020631.6(PLEKHG5):c.1842G>A (p.Val614=)
|
|
|
NM_020631.6(PLEKHG5):c.1845C>T (p.Thr615=)
|
|
|
NM_020631.6(PLEKHG5):c.1860G>A (p.Lys620=)
|
|
|
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr)
|
rs759538158
|
|
NM_020631.6(PLEKHG5):c.1869G>A (p.Arg623=)
|
|
|
NM_020631.6(PLEKHG5):c.1872C>G (p.Thr624=)
|
|
|
NM_020631.6(PLEKHG5):c.1878C>T (p.Val626=)
|
|
|
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1884G>A (p.Arg628=)
|
|
|
NM_020631.6(PLEKHG5):c.1893G>A (p.Leu631=)
|
rs2148579764
|
|
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1933+10C>A
|
|
|
NM_020631.6(PLEKHG5):c.1933+12T>C
|
rs2148579594
|
|
NM_020631.6(PLEKHG5):c.1933+14G>T
|
|
|
NM_020631.6(PLEKHG5):c.1933+19C>G
|
|
|
NM_020631.6(PLEKHG5):c.1933+1del
|
|
|
NM_020631.6(PLEKHG5):c.1933+9C>T
|
|
|
NM_020631.6(PLEKHG5):c.1934-17G>T
|
|
|
NM_020631.6(PLEKHG5):c.1934-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.1934-9C>G
|
rs373933352
|
|
NM_020631.6(PLEKHG5):c.1935G>T (p.Gly645=)
|
rs147140763
|
|
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro)
|
rs1644500916
|
|
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr)
|
rs1644500686
|
|
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu)
|
rs1460646554
|
|
NM_020631.6(PLEKHG5):c.1989G>A (p.Thr663=)
|
|
|
NM_020631.6(PLEKHG5):c.1998C>T (p.Ala666=)
|
|
|
NM_020631.6(PLEKHG5):c.1999A>G (p.Ser667Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1A>G (p.Met1Val)
|
|
|
NM_020631.6(PLEKHG5):c.2001_2002inv (p.Gly668Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2040C>T (p.Tyr680=)
|
|
|
NM_020631.6(PLEKHG5):c.2049+11A>G
|
rs1557737418
|
|
NM_020631.6(PLEKHG5):c.2049+7G>A
|
|
|
NM_020631.6(PLEKHG5):c.2049+8C>G
|
|
|
NM_020631.6(PLEKHG5):c.2050-10T>A
|
|
|
NM_020631.6(PLEKHG5):c.2050-11C>G
|
|
|
NM_020631.6(PLEKHG5):c.2050-12C>T
|
|
|
NM_020631.6(PLEKHG5):c.2050-14A>G
|
|
|
NM_020631.6(PLEKHG5):c.2050-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.2050-9T>G
|
|
|
NM_020631.6(PLEKHG5):c.2052C>T (p.Asn684=)
|
|
|
NM_020631.6(PLEKHG5):c.2056C>T (p.Leu686=)
|
rs1569842648
|
|
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu)
|
rs1046289350
|
|
NM_020631.6(PLEKHG5):c.2066T>G (p.Leu689Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys)
|
rs149089640
|
|
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs)
|
rs2148578668
|
|
NM_020631.6(PLEKHG5):c.2076G>A (p.Gln692=)
|
|
|
NM_020631.6(PLEKHG5):c.207G>A (p.Thr69=)
|
|
|
NM_020631.6(PLEKHG5):c.2088C>T (p.Gly696=)
|
|
|
NM_020631.6(PLEKHG5):c.210+14C>G
|
|
|
NM_020631.6(PLEKHG5):c.210+14dup
|
|
|
NM_020631.6(PLEKHG5):c.210+15A>G
|
|
|
NM_020631.6(PLEKHG5):c.210+9C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-16C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-22CCCACC[3]
|
|
|
NM_020631.6(PLEKHG5):c.211-23_211-14dup
|
|
|
NM_020631.6(PLEKHG5):c.211-4C>G
|
|
|
NM_020631.6(PLEKHG5):c.211-5C>A
|
|
|
NM_020631.6(PLEKHG5):c.211-5C>T
|
|
|
NM_020631.6(PLEKHG5):c.211-7C>A
|
|
|
NM_020631.6(PLEKHG5):c.2112G>A (p.Leu704=)
|
|
|
NM_020631.6(PLEKHG5):c.2117A>G (p.Glu706Gly)
|
|
|
NM_020631.6(PLEKHG5):c.2130G>A (p.Glu710=)
|
|
|
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
|
|
|
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala)
|
rs1241363420
|
|
NM_020631.6(PLEKHG5):c.2139G>A (p.Glu713=)
|
|
|
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu)
|
rs1553173393
|
|
NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del)
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2148G>A (p.Glu716=)
|
rs1569841449
|
|
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter)
|
rs184242303
|
|
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
|
|
|
NM_020631.6(PLEKHG5):c.2151G>A (p.Glu717=)
|
|
|
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp)
|
rs761945225
|
|
NM_020631.6(PLEKHG5):c.2154G>A (p.Glu718=)
|
rs1410366410
|
|
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu)
|
rs1553173388
|
|
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
|
|
|
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys)
|
rs1020150780
|
|
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp)
|
rs62639695
|
|
NM_020631.6(PLEKHG5):c.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs)
|
rs201182604
|
|
NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu)
|
rs960528373
|
|
NM_020631.6(PLEKHG5):c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile)
|
rs770641755
|
|
NM_020631.6(PLEKHG5):c.2199C>T (p.Ser733=)
|
|
|
NM_020631.6(PLEKHG5):c.2208C>G (p.Thr736=)
|
|
|
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val)
|
rs1644484109
|
|
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2217G>A (p.Arg739=)
|
|
|
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala)
|
rs1245961862
|
|
NM_020631.6(PLEKHG5):c.2229C>T (p.Gly743=)
|
|
|
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
|
|
|
NM_020631.6(PLEKHG5):c.2232C>T (p.Ser744=)
|
|
|
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr)
|
rs756501907
|
|
NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2236G>A (p.Asp746Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2241T>C (p.Ser747=)
|
|
|
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2244G>A (p.Gln748=)
|
rs1569839599
|
|
NM_020631.6(PLEKHG5):c.2244G>C (p.Gln748His)
|
rs1569839599
|
|
NM_020631.6(PLEKHG5):c.2249+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.2249+14T>C
|
|
|
NM_020631.6(PLEKHG5):c.2249+14T>G
|
|
|
NM_020631.6(PLEKHG5):c.2249+16A>G
|
rs2148577839
|
|
NM_020631.6(PLEKHG5):c.2249+1G>A
|
|
|
NM_020631.6(PLEKHG5):c.2250-12C>G
|
|
|
NM_020631.6(PLEKHG5):c.2250-15C>T
|
|
|
NM_020631.6(PLEKHG5):c.2250-18C>G
|
|
|
NM_020631.6(PLEKHG5):c.2250-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val)
|
|
|
NM_020631.6(PLEKHG5):c.2253C>T (p.Ala751=)
|
|
|
NM_020631.6(PLEKHG5):c.2265C>A (p.Ser755=)
|
|
|
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2274C>A (p.Thr758=)
|
|
|
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val)
|
rs1569836518
|
|
NM_020631.6(PLEKHG5):c.2280C>T (p.Ala760=)
|
rs2148576793
|
|
NM_020631.6(PLEKHG5):c.2292A>G (p.Val764=)
|
|
|
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln)
|
rs532817130
|
|
NM_020631.6(PLEKHG5):c.2301G>C (p.Gly767=)
|
|
|
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr)
|
rs1644465940
|
|
NM_020631.6(PLEKHG5):c.2316C>A (p.Ser772=)
|
|
|
NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=)
|
rs80031446
|
|
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=)
|
rs80031446
|
|
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys)
|
rs768087057
|
|
NM_020631.6(PLEKHG5):c.2334T>G (p.Gly778=)
|
|
|
NM_020631.6(PLEKHG5):c.2352T>G (p.Ser784=)
|
rs2148576624
|
|
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs)
|
rs759212541
|
|
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu)
|
rs2148576538
|
|
NM_020631.6(PLEKHG5):c.2397C>T (p.Thr799=)
|
|
|
NM_020631.6(PLEKHG5):c.2400T>C (p.Ser800=)
|
|
|
NM_020631.6(PLEKHG5):c.2418T>C (p.Gly806=)
|
|
|
NM_020631.6(PLEKHG5):c.2421G>C (p.Pro807=)
|
|
|
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys)
|
rs76625876
|
|
NM_020631.6(PLEKHG5):c.2439C>T (p.Cys813=)
|
|
|
NM_020631.6(PLEKHG5):c.2442C>T (p.Ser814=)
|
|
|
NM_020631.6(PLEKHG5):c.2451T>C (p.Ser817=)
|
|
|
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val)
|
|
|
NM_020631.6(PLEKHG5):c.2454C>G (p.Ala818=)
|
|
|
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2463C>G (p.Thr821=)
|
|
|
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile)
|
|
|
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
|
|
|
NM_020631.6(PLEKHG5):c.2472A>G (p.Pro824=)
|
|
|
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala)
|
rs779264802
|
|
NM_020631.6(PLEKHG5):c.2489T>C (p.Phe830Ser)
|
rs764007395
|
|
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
|
|
|
NM_020631.6(PLEKHG5):c.2496C>A (p.Ala832=)
|
|
|
NM_020631.6(PLEKHG5):c.2496C>T (p.Ala832=)
|
|
|
NM_020631.6(PLEKHG5):c.249G>C (p.Leu83=)
|
|
|
NM_020631.6(PLEKHG5):c.2502C>T (p.Gly834=)
|
|
|
NM_020631.6(PLEKHG5):c.2505A>G (p.Pro835=)
|
|
|
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly)
|
rs1287801386
|
|
NM_020631.6(PLEKHG5):c.2520G>A (p.Val840=)
|
rs2148576118
|
|
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr)
|
rs1180411078
|
|
NM_020631.6(PLEKHG5):c.2538C>A (p.Ser846=)
|
rs776995250
|
|
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser)
|
rs1390984037
|
|
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
|
|
|
NM_020631.6(PLEKHG5):c.2553C>T (p.Ser851=)
|
rs2148575994
|
|
NM_020631.6(PLEKHG5):c.2589T>C (p.Pro863=)
|
|
|
NM_020631.6(PLEKHG5):c.2596C>T (p.Leu866=)
|
|
|
NM_020631.6(PLEKHG5):c.2622C>G (p.Leu874=)
|
|
|
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2646C>T (p.Leu882=)
|
|
|
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His)
|
|
|
NM_020631.6(PLEKHG5):c.2658G>A (p.Leu886=)
|
|
|
NM_020631.6(PLEKHG5):c.265A>G (p.Thr89Ala)
|
rs981552118
|
|
NM_020631.6(PLEKHG5):c.2664G>T (p.Gly888=)
|
rs1569832075
|
|
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
|
|
|
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile)
|
rs2148575479
|
|
NM_020631.6(PLEKHG5):c.2679G>A (p.Gly893=)
|
|
|
NM_020631.6(PLEKHG5):c.2691C>G (p.Ala897=)
|
rs755539639
|
|
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly)
|
rs1247695536
|
|
NM_020631.6(PLEKHG5):c.2721G>A (p.Leu907=)
|
|
|
NM_020631.6(PLEKHG5):c.2733C>A (p.Ala911=)
|
|
|
NM_020631.6(PLEKHG5):c.2733C>T (p.Ala911=)
|
|
|
NM_020631.6(PLEKHG5):c.2736A>C (p.Pro912=)
|
|
|
NM_020631.6(PLEKHG5):c.273C>A (p.Ile91=)
|
|
|
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys)
|
rs1644446616
|
|
NM_020631.6(PLEKHG5):c.2745G>A (p.Arg915=)
|
|
|
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu)
|
rs910647086
|
|
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)
|
|
|
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del)
|
rs536097668
|
|
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu)
|
rs376237905
|
|
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg)
|
rs1644443857
|
|
NM_020631.6(PLEKHG5):c.2793G>A (p.Gly931=)
|
|
|
NM_020631.6(PLEKHG5):c.2796C>G (p.Ala932=)
|
|
|
NM_020631.6(PLEKHG5):c.2799T>G (p.Pro933=)
|
rs779825659
|
|
NM_020631.6(PLEKHG5):c.27C>T (p.Phe9=)
|
|
|
NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser)
|
rs114619322
|
|
NM_020631.6(PLEKHG5):c.2838C>G (p.Ala946=)
|
rs573561537
|
|
NM_020631.6(PLEKHG5):c.2868G>A (p.Arg956=)
|
|
|
NM_020631.6(PLEKHG5):c.286AAG[2] (p.Lys98del)
|
rs781153386
|
|
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg)
|
rs1320979244
|
|
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
|
|
|
NM_020631.6(PLEKHG5):c.2883C>T (p.Pro961=)
|
|
|
NM_020631.6(PLEKHG5):c.2886G>A (p.Ser962=)
|
rs749015188
|
|
NM_020631.6(PLEKHG5):c.2887G>T (p.Gly963Trp)
|
rs780100460
|
|
NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu)
|
rs2148574527
|
|
NM_020631.6(PLEKHG5):c.288G>T (p.Lys96Asn)
|
rs575792064
|
|
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)
|
|
|
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe)
|
rs1337483830
|
|
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
|
|
|
NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg)
|
rs777368688
|
|
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu)
|
rs777368688
|
|
NM_020631.6(PLEKHG5):c.291G>A (p.Lys97=)
|
|
|
NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2925G>A (p.Gly975=)
|
|
|
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
|
|
|
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2958C>T (p.Ala986=)
|
|
|
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys)
|
rs750720112
|
|
NM_020631.6(PLEKHG5):c.2976G>A (p.Arg992=)
|
|
|
NM_020631.6(PLEKHG5):c.2982C>T (p.Thr994=)
|
|
|
NM_020631.6(PLEKHG5):c.2983C>T (p.Leu995=)
|
|
|
NM_020631.6(PLEKHG5):c.2986C>T (p.Leu996=)
|
rs1249333557
|
|
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro)
|
rs2148574076
|
|
NM_020631.6(PLEKHG5):c.298C>T (p.Leu100=)
|
rs2148592587
|
|
NM_020631.6(PLEKHG5):c.2994C>T (p.Asn998=)
|
|
|
NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)
|
|
|
NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=)
|
rs770466036
|
|
NM_020631.6(PLEKHG5):c.3003C>T (p.Leu1001=)
|
|
|
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)
|
|
|
NM_020631.6(PLEKHG5):c.3011+11T>C
|
|
|
NM_020631.6(PLEKHG5):c.3011+12G>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+15C>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+19G>A
|
|
|
NM_020631.6(PLEKHG5):c.3011+6T>C
|
rs1569827097
|
|
NM_020631.6(PLEKHG5):c.3012-10C>T
|
|
|
NM_020631.6(PLEKHG5):c.3012-11C>G
|
|
|
NM_020631.6(PLEKHG5):c.3012-15C>G
|
|
|
NM_020631.6(PLEKHG5):c.3012-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.3012-17_3012-6del
|
rs774593947
|
|
NM_020631.6(PLEKHG5):c.3012-18C>T
|
|
|
NM_020631.6(PLEKHG5):c.3012-7C>T
|
|
|
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
|
|
|
NM_020631.6(PLEKHG5):c.302+10_302+11delinsTT
|
rs1553175406
|
|
NM_020631.6(PLEKHG5):c.302+16del
|
|
|
NM_020631.6(PLEKHG5):c.302+6G>A
|
rs1553175409
|
|
NM_020631.6(PLEKHG5):c.303-12T>C
|
|
|
NM_020631.6(PLEKHG5):c.303-13G>C
|
|
|
NM_020631.6(PLEKHG5):c.303-16C>T
|
rs2148591484
|
|
NM_020631.6(PLEKHG5):c.303-19C>G
|
|
|
NM_020631.6(PLEKHG5):c.303-19C>T
|
|
|
NM_020631.6(PLEKHG5):c.303-4G>A
|
rs746297437
|
|
NM_020631.6(PLEKHG5):c.303-7G>C
|
rs1164371404
|
|
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu)
|
rs141032388
|
|
NM_020631.6(PLEKHG5):c.318T>C (p.Pro106=)
|
|
|
NM_020631.6(PLEKHG5):c.333G>A (p.Lys111=)
|
|
|
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val)
|
|
|
NM_020631.6(PLEKHG5):c.342G>A (p.Ala114=)
|
|
|
NM_020631.6(PLEKHG5):c.343C>T (p.Leu115=)
|
|
|
NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser)
|
rs140687324
|
|
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
|
|
|
NM_020631.6(PLEKHG5):c.363C>T (p.Tyr121=)
|
|
|
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
|
|
|
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn)
|
rs759645488
|
|
NM_020631.6(PLEKHG5):c.369C>T (p.Asp123=)
|
|
|
NM_020631.6(PLEKHG5):c.36C>A (p.Pro12=)
|
rs2148598115
|
|
NM_020631.6(PLEKHG5):c.372G>A (p.Gln124=)
|
|
|
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala)
|
rs2148591381
|
|
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs)
|
rs2148591365
|
|
NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu)
|
rs776271244
|
|
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
|
|
|
NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=)
|
rs2148598086
|
|
NM_020631.6(PLEKHG5):c.407A>G (p.Tyr136Cys)
|
rs986133840
|
|
NM_020631.6(PLEKHG5):c.412T>C (p.Phe138Leu)
|
rs1302453044
|
|
NM_020631.6(PLEKHG5):c.415G>A (p.Gly139Arg)
|
rs769529781
|
|
NM_020631.6(PLEKHG5):c.415G>C (p.Gly139Arg)
|
rs769529781
|
|
NM_020631.6(PLEKHG5):c.417G>A (p.Gly139=)
|
|
|
NM_020631.6(PLEKHG5):c.420A>T (p.Gly140=)
|
|
|
NM_020631.6(PLEKHG5):c.426C>T (p.Tyr142=)
|
|
|
NM_020631.6(PLEKHG5):c.43+12C>T
|
|
|
NM_020631.6(PLEKHG5):c.43+13G>C
|
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_020631.6(PLEKHG5):c.43+19C>T
|
|
|
NM_020631.6(PLEKHG5):c.43+20G>A
|
rs200779049
|
|
NM_020631.6(PLEKHG5):c.43+7A>G
|
|
|
NM_020631.6(PLEKHG5):c.43+8_43+22del
|
|
|
NM_020631.6(PLEKHG5):c.431G>A (p.Arg144His)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.439+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.439+8G>A
|
|
|
NM_020631.6(PLEKHG5):c.439+9C>G
|
|
|
NM_020631.6(PLEKHG5):c.44-13G>A
|
|
|
NM_020631.6(PLEKHG5):c.44-5C>T
|
|
|
NM_020631.6(PLEKHG5):c.440-17G>A
|
rs200894921
|
|
NM_020631.6(PLEKHG5):c.440-17G>C
|
|
|
NM_020631.6(PLEKHG5):c.440-18C>T
|
|
|
NM_020631.6(PLEKHG5):c.440-7_440-6inv
|
|
|
NM_020631.6(PLEKHG5):c.440-9C>T
|
rs772633418
|
|
NM_020631.6(PLEKHG5):c.441C>A (p.Ala147=)
|
|
|
NM_020631.6(PLEKHG5):c.441C>T (p.Ala147=)
|
|
|
NM_020631.6(PLEKHG5):c.444A>G (p.Pro148=)
|
|
|
NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=)
|
|
|
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs)
|
rs1569875704
|
|
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg)
|
|
|
NM_020631.6(PLEKHG5):c.456A>G (p.Gly152=)
|
|
|
NM_020631.6(PLEKHG5):c.479G>A (p.Gly160Asp)
|
|
|
NM_020631.6(PLEKHG5):c.489C>G (p.Asp163Glu)
|
|
|
NM_020631.6(PLEKHG5):c.494A>G (p.Lys165Arg)
|
|
|
NM_020631.6(PLEKHG5):c.495G>C (p.Lys165Asn)
|
rs150772386
|
|
NM_020631.6(PLEKHG5):c.498C>T (p.Ser166=)
|
|
|
NM_020631.6(PLEKHG5):c.4C>T (p.His2Tyr)
|
rs2148598223
|
|
NM_020631.6(PLEKHG5):c.503G>C (p.Ser168Thr)
|
rs1346810555
|
|
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln)
|
rs59117380
|
|
NM_020631.6(PLEKHG5):c.510G>C (p.Pro170=)
|
|
|
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly)
|
rs372602993
|
|
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)
|
rs372602993
|
|
NM_020631.6(PLEKHG5):c.521C>T (p.Pro174Leu)
|
rs1374927816
|
|
NM_020631.6(PLEKHG5):c.525T>G (p.Ala175=)
|
|
|
NM_020631.6(PLEKHG5):c.534G>T (p.Gly178=)
|
rs1569875832
|
|
NM_020631.6(PLEKHG5):c.535C>T (p.Pro179Ser)
|
rs1644682762
|
|
NM_020631.6(PLEKHG5):c.537C>A (p.Pro179=)
|
|
|
NM_020631.6(PLEKHG5):c.540C>A (p.Pro180=)
|
|
|
NM_020631.6(PLEKHG5):c.540C>G (p.Pro180=)
|
rs372624847
|
|
NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=)
|
rs372624847
|
|
NM_020631.6(PLEKHG5):c.541G>C (p.Ala181Pro)
|
rs527341275
|
|
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys)
|
rs886046502
|
|
NM_020631.6(PLEKHG5):c.552T>G (p.Arg184=)
|
|
|
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr)
|
rs199503669
|
|
NM_020631.6(PLEKHG5):c.55G>A (p.Ala19Thr)
|
|
|
NM_020631.6(PLEKHG5):c.562C>A (p.Gln188Lys)
|
|
|
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly)
|
rs1321100552
|
|
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del)
|
rs1380854015
|
|
NM_020631.6(PLEKHG5):c.569G>A (p.Arg190His)
|
rs770010475
|
|
NM_020631.6(PLEKHG5):c.572G>A (p.Arg191Gln)
|
rs541234129
|
|
NM_020631.6(PLEKHG5):c.573G>A (p.Arg191=)
|
|
|
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
|
|
|
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val)
|
rs1159602956
|
|
NM_020631.6(PLEKHG5):c.591+10dup
|
|
|
NM_020631.6(PLEKHG5):c.591+14G>C
|
|
|
NM_020631.6(PLEKHG5):c.591+15G>A
|
|
|
NM_020631.6(PLEKHG5):c.591+15del
|
|
|
NM_020631.6(PLEKHG5):c.591+4AGG[4]
|
|
|
NM_020631.6(PLEKHG5):c.591+9G>C
|
rs372310391
|
|
NM_020631.6(PLEKHG5):c.591+9G>T
|
|
|
NM_020631.6(PLEKHG5):c.592-10C>T
|
|
|
NM_020631.6(PLEKHG5):c.592-13C>G
|
|
|
NM_020631.6(PLEKHG5):c.592-13C>T
|
|
|
NM_020631.6(PLEKHG5):c.592-15C>A
|
|
|
NM_020631.6(PLEKHG5):c.592-20G>A
|
|
|
NM_020631.6(PLEKHG5):c.592-4C>T
|
|
|
NM_020631.6(PLEKHG5):c.592-6G>C
|
|
|
NM_020631.6(PLEKHG5):c.592-8C>A
|
|
|
NM_020631.6(PLEKHG5):c.592-9C>T
|
|
|
NM_020631.6(PLEKHG5):c.594C>G (p.Ala198=)
|
rs1557745612
|
|
NM_020631.6(PLEKHG5):c.594C>T (p.Ala198=)
|
|
|
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln)
|
rs1259066437
|
|
NM_020631.6(PLEKHG5):c.600C>T (p.Gly200=)
|
|
|
NM_020631.6(PLEKHG5):c.601C>T (p.Arg201Cys)
|
rs561283132
|
|
NM_020631.6(PLEKHG5):c.601CGC[4] (p.Arg203_Lys204insArg)
|
|
|
NM_020631.6(PLEKHG5):c.605G>A (p.Arg202His)
|
|
|
NM_020631.6(PLEKHG5):c.615C>G (p.Asn205Lys)
|
rs2148589091
|
|
NM_020631.6(PLEKHG5):c.618G>T (p.Met206Ile)
|
rs1644658818
|
|
NM_020631.6(PLEKHG5):c.627C>T (p.Phe209=)
|
|
|
NM_020631.6(PLEKHG5):c.633G>A (p.Gly211=)
|
|
|
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=)
|
rs1365704916
|
|
NM_020631.6(PLEKHG5):c.657G>A (p.Glu219=)
|
|
|
NM_020631.6(PLEKHG5):c.663C>A (p.Pro221=)
|
|
|
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys)
|
rs373678202
|
|
NM_020631.6(PLEKHG5):c.666G>A (p.Thr222=)
|
|
|
NM_020631.6(PLEKHG5):c.66G>C (p.Val22=)
|
|
|
NM_020631.6(PLEKHG5):c.690C>T (p.Ser230=)
|
|
|
NM_020631.6(PLEKHG5):c.711C>T (p.Asn237=)
|
|
|
NM_020631.6(PLEKHG5):c.717C>T (p.Gly239=)
|
|
|
NM_020631.6(PLEKHG5):c.729G>A (p.Lys243=)
|
|
|
NM_020631.6(PLEKHG5):c.738G>A (p.Ala246=)
|
|
|
NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro)
|
rs772232182
|
|
NM_020631.6(PLEKHG5):c.740C>T (p.Ala247Val)
|
|
|
NM_020631.6(PLEKHG5):c.745C>T (p.Arg249Cys)
|
rs1436222408
|
|
NM_020631.6(PLEKHG5):c.748T>C (p.Phe250Leu)
|
|
|
NM_020631.6(PLEKHG5):c.74G>A (p.Arg25Gln)
|
rs1201574261
|
|
NM_020631.6(PLEKHG5):c.74G>C (p.Arg25Pro)
|
rs1201574261
|
|
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)
|
rs1644651573
|
|
NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr)
|
rs550362834
|
|
NM_020631.6(PLEKHG5):c.78A>G (p.Ser26=)
|
|
|
NM_020631.6(PLEKHG5):c.792C>T (p.Gly264=)
|
|
|
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln)
|
rs1280977628
|
|
NM_020631.6(PLEKHG5):c.795+16T>A
|
|
|
NM_020631.6(PLEKHG5):c.795+20C>G
|
|
|
NM_020631.6(PLEKHG5):c.795+20C>T
|
|
|
NM_020631.6(PLEKHG5):c.796-12G>C
|
|
|
NM_020631.6(PLEKHG5):c.796-13G>A
|
|
|
NM_020631.6(PLEKHG5):c.796-13G>C
|
rs377254091
|
|
NM_020631.6(PLEKHG5):c.796-17C>T
|
|
|
NM_020631.6(PLEKHG5):c.796-20T>C
|
rs1344632009
|
|
NM_020631.6(PLEKHG5):c.796-6T>C
|
|
|
NM_020631.6(PLEKHG5):c.796-6T>G
|
|
|
NM_020631.6(PLEKHG5):c.807G>A (p.Lys269=)
|
|
|
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr)
|
rs1569889912
|
|
NM_020631.6(PLEKHG5):c.819G>A (p.Leu273=)
|
rs771904496
|
|
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln)
|
rs1644646685
|
|
NM_020631.6(PLEKHG5):c.840C>T (p.Tyr280=)
|
|
|
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His)
|
rs2148588292
|
|
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln)
|
|
|
NM_020631.6(PLEKHG5):c.870G>A (p.Arg290=)
|
|
|
NM_020631.6(PLEKHG5):c.873G>C (p.Gly291=)
|
|
|
NM_020631.6(PLEKHG5):c.879C>T (p.Arg293=)
|
|
|
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn)
|
rs1644643276
|
|
NM_020631.6(PLEKHG5):c.893C>T (p.Ser298Phe)
|
|
|
NM_020631.6(PLEKHG5):c.89G>A (p.Arg30His)
|
rs199745947
|
|
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del)
|
rs1465693103
|
|
NM_020631.6(PLEKHG5):c.906G>A (p.Glu302=)
|
|
|
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)
|
rs376900021
|
|
NM_020631.6(PLEKHG5):c.909_911del (p.Asp304del)
|
rs2148588099
|
|
NM_020631.6(PLEKHG5):c.90C>T (p.Arg30=)
|
|
|
NM_020631.6(PLEKHG5):c.915A>G (p.Glu305=)
|
|
|
NM_020631.6(PLEKHG5):c.919G>C (p.Glu307Gln)
|
rs148745591
|
|
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala)
|
rs1644755304
|
|
NM_020631.6(PLEKHG5):c.921G>A (p.Glu307=)
|
|
|
NM_020631.6(PLEKHG5):c.927G>A (p.Glu309=)
|
|
|
NM_020631.6(PLEKHG5):c.92C>G (p.Thr31Ser)
|
|
|
NM_020631.6(PLEKHG5):c.935C>A (p.Ala312Asp)
|
|
|
NM_020631.6(PLEKHG5):c.938G>A (p.Cys313Tyr)
|
|
|
NM_020631.6(PLEKHG5):c.940C>T (p.Leu314=)
|
|
|
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp)
|
rs767511293
|
|
NM_020631.6(PLEKHG5):c.966G>A (p.Glu322=)
|
|
|
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile)
|
rs1275790736
|
|
NM_020631.6(PLEKHG5):c.984+14A>G
|
|
|
NM_020631.6(PLEKHG5):c.984+14A>T
|
|
|
NM_020631.6(PLEKHG5):c.984+15C>T
|
|
|
NM_020631.6(PLEKHG5):c.984+15_984+16del
|
|
|
NM_020631.6(PLEKHG5):c.984+17G>A
|
|
|
NM_020631.6(PLEKHG5):c.984+3G>A
|
rs1282919159
|
|
NM_020631.6(PLEKHG5):c.984+8C>A
|
|
|
NM_020631.6(PLEKHG5):c.984+8C>G
|
|
|
NM_020631.6(PLEKHG5):c.985-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.985-18A>T
|
|
|
NM_020631.6(PLEKHG5):c.985-19C>T
|
|
|
NM_020631.6(PLEKHG5):c.985-19del
|
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020631.6(PLEKHG5):c.985-4C>T
|
|
|
NM_020631.6(PLEKHG5):c.985-6C>G
|
rs1371350296
|
|
NM_020631.6(PLEKHG5):c.985-7C>A
|
|
|
NM_020631.6(PLEKHG5):c.990G>T (p.Leu330=)
|
|
|
NM_020631.6(PLEKHG5):c.993C>T (p.Thr331=)
|
|
|
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=)
|
rs148232621
|
|
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)
|
rs148232621
|
|
NM_020631.6(PLEKHG5):c.99C>A (p.Pro33=)
|
|
|
NM_020631.6(PLEKHG5):c.99C>G (p.Pro33=)
|
|
|
NM_021625.5(TRPV4):c.1005C>G (p.Thr335=)
|
rs1003372246
|
|
NM_021625.5(TRPV4):c.1005C>T (p.Thr335=)
|
|
|
NM_021625.5(TRPV4):c.1006C>T (p.Arg336Cys)
|
rs781229110
|
|
NM_021625.5(TRPV4):c.1008T>G (p.Arg336=)
|
|
|
NM_021625.5(TRPV4):c.1028C>T (p.Thr343Ile)
|
|
|
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
|
rs1006063188
|
|
NM_021625.5(TRPV4):c.1055A>G (p.Lys352Arg)
|
|
|
NM_021625.5(TRPV4):c.1058G>A (p.Cys353Tyr)
|
|
|
NM_021625.5(TRPV4):c.1066C>T (p.Leu356Phe)
|
|
|
NM_021625.5(TRPV4):c.1074C>G (p.Pro358=)
|
rs140040335
|
|
NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del)
|
rs1592838554
|
|
NM_021625.5(TRPV4):c.1083C>T (p.Asn361=)
|
|
|
NM_021625.5(TRPV4):c.1084C>T (p.Leu362=)
|
|
|
NM_021625.5(TRPV4):c.1087G>C (p.Glu363Gln)
|
|
|
NM_021625.5(TRPV4):c.1087_1088delinsTT (p.Glu363Leu)
|
rs1890576440
|
|
NM_021625.5(TRPV4):c.1093G>C (p.Val365Leu)
|
|
|
NM_021625.5(TRPV4):c.1105G>A (p.Asp369Asn)
|
|
|
NM_021625.5(TRPV4):c.1110C>A (p.Gly370=)
|
rs2136517738
|
|
NM_021625.5(TRPV4):c.1124T>C (p.Met375Thr)
|
|
|
NM_021625.5(TRPV4):c.1130C>T (p.Ala377Val)
|
|
|
NM_021625.5(TRPV4):c.1130_1152+16del
|
rs2136516895
|
|
NM_021625.5(TRPV4):c.1133C>A (p.Ala378Asp)
|
|
|
NM_021625.5(TRPV4):c.1136A>G (p.Lys379Arg)
|
rs1890568784
|
|
NM_021625.5(TRPV4):c.113A>G (p.Asn38Ser)
|
|
|
NM_021625.5(TRPV4):c.1140G>A (p.Thr380=)
|
|
|
NM_021625.5(TRPV4):c.1152+15dup
|
rs746148872
|
|
NM_021625.5(TRPV4):c.1152+19G>A
|
rs1428509382
|
|
NM_021625.5(TRPV4):c.1153-6G>A
|
rs1890423456
|
|
NM_021625.5(TRPV4):c.1159C>G (p.Gln387Glu)
|
rs1890422889
|
|
NM_021625.5(TRPV4):c.1165A>G (p.Ile389Val)
|
|
|
NM_021625.5(TRPV4):c.1167C>T (p.Ile389=)
|
rs2136503803
|
|
NM_021625.5(TRPV4):c.1170C>T (p.Ile390=)
|
rs2136503789
|
|
NM_021625.5(TRPV4):c.1172G>A (p.Arg391Gln)
|
|
|
NM_021625.5(TRPV4):c.1175G>C (p.Arg392Pro)
|
rs770364304
|
|
NM_021625.5(TRPV4):c.1191G>A (p.Glu397=)
|
|
|
NM_021625.5(TRPV4):c.1205T>C (p.Leu402Pro)
|
rs1890419368
|
|
NM_021625.5(TRPV4):c.1206G>A (p.Leu402=)
|
rs1328179779
|
|
NM_021625.5(TRPV4):c.1206G>T (p.Leu402=)
|
rs1328179779
|
|
NM_021625.5(TRPV4):c.1218C>T (p.Phe406=)
|
rs750629825
|
|
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)
|
rs515726153
|
|
NM_021625.5(TRPV4):c.1233T>A (p.Tyr411Ter)
|
|
|
NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp)
|
rs1891750610
|
|
NM_021625.5(TRPV4):c.1251G>A (p.Ser417=)
|
rs765427637
|
|
NM_021625.5(TRPV4):c.125G>A (p.Gly42Glu)
|
|
|
NM_021625.5(TRPV4):c.125G>T (p.Gly42Val)
|
|
|
NM_021625.5(TRPV4):c.1263C>G (p.Leu421=)
|
|
|
NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr)
|
rs1890416175
|
|
NM_021625.5(TRPV4):c.1266C>G (p.Ser422=)
|
|
|
NM_021625.5(TRPV4):c.1269C>T (p.Ser423=)
|
|
|
NM_021625.5(TRPV4):c.1273G>T (p.Asp425Tyr)
|
rs1890415214
|
|
NM_021625.5(TRPV4):c.1282G>A (p.Gly428Arg)
|
|
|
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu)
|
rs1890414210
|
|
NM_021625.5(TRPV4):c.1291G>A (p.Ala431Thr)
|
|
|
NM_021625.5(TRPV4):c.1292C>T (p.Ala431Val)
|
rs2136502657
|
|
NM_021625.5(TRPV4):c.1296C>T (p.Ser432=)
|
rs1028271373
|
|
NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val)
|
rs1890412020
|
|
NM_021625.5(TRPV4):c.1314del (p.Tyr439fs)
|
|
|
NM_021625.5(TRPV4):c.1315T>A (p.Tyr439Asn)
|
rs762416745
|
|
NM_021625.5(TRPV4):c.1316A>T (p.Tyr439Phe)
|
|
|
NM_021625.5(TRPV4):c.1332+1G>A
|
|
|
NM_021625.5(TRPV4):c.1333-14C>A
|
|
|
NM_021625.5(TRPV4):c.1333-17C>A
|
|
|
NM_021625.5(TRPV4):c.1333-17C>T
|
rs766176063
|
|
NM_021625.5(TRPV4):c.1333-19A>C
|
|
|
NM_021625.5(TRPV4):c.1333-20dup
|
|
|
NM_021625.5(TRPV4):c.1333-3T>C
|
|
|
NM_021625.5(TRPV4):c.1333-4_1333-3del
|
|
|
NM_021625.5(TRPV4):c.1333A>G (p.Asn445Asp)
|
|
|
NM_021625.5(TRPV4):c.1336C>G (p.Arg446Gly)
|
|
|
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His)
|
rs143502097
|
|
NM_021625.5(TRPV4):c.1337G>C (p.Arg446Pro)
|
|
|
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu)
|
rs143502097
|
|
NM_021625.5(TRPV4):c.1345A>C (p.Met449Leu)
|
|
|
NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)
|
|
|
NM_021625.5(TRPV4):c.1359G>A (p.Glu453=)
|
|
|
NM_021625.5(TRPV4):c.1373T>C (p.Leu458Pro)
|
|
|
NM_021625.5(TRPV4):c.1378C>G (p.Arg460Gly)
|
|
|
NM_021625.5(TRPV4):c.1391G>A (p.Arg464His)
|
rs758206734
|
|
NM_021625.5(TRPV4):c.1391G>T (p.Arg464Leu)
|
|
|
NM_021625.5(TRPV4):c.1393A>G (p.Lys465Glu)
|
rs2136484635
|
|
NM_021625.5(TRPV4):c.1403C>T (p.Ala468Val)
|
|
|
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)
|
rs515726154
|
|
NM_021625.5(TRPV4):c.1416C>T (p.Tyr472=)
|
|
|
NM_021625.5(TRPV4):c.1421A>T (p.Asn474Ile)
|
rs150461804
|
|
NM_021625.5(TRPV4):c.1424T>C (p.Val475Ala)
|
|
|
NM_021625.5(TRPV4):c.1425G>A (p.Val475=)
|
|
|
NM_021625.5(TRPV4):c.1431del (p.Tyr478fs)
|
|
|
NM_021625.5(TRPV4):c.1434C>T (p.Tyr478=)
|
rs749421876
|
|
NM_021625.5(TRPV4):c.1439G>T (p.Cys480Phe)
|
rs943346163
|
|
NM_021625.5(TRPV4):c.1445T>C (p.Met482Thr)
|
rs1565866454
|
|
NM_021625.5(TRPV4):c.1450A>G (p.Ile484Val)
|
rs1555206591
|
|
NM_021625.5(TRPV4):c.1457C>A (p.Thr486Asn)
|
rs2136483803
|
|
NM_021625.5(TRPV4):c.1463C>T (p.Thr488Ile)
|
|
|
NM_021625.5(TRPV4):c.1467del (p.Tyr490fs)
|
|
|
NM_021625.5(TRPV4):c.1473C>A (p.Tyr491Ter)
|
|
|
NM_021625.5(TRPV4):c.1479G>T (p.Pro493=)
|
rs1337838267
|
|
NM_021625.5(TRPV4):c.1491+10C>G
|
rs201815805
|
|
NM_021625.5(TRPV4):c.1491+18G>A
|
|
|
NM_021625.5(TRPV4):c.1491+5G>A
|
rs375360273
|
|
NM_021625.5(TRPV4):c.1491A>C (p.Thr497=)
|
|
|
NM_021625.5(TRPV4):c.1492-1_1494del
|
rs2136480490
|
|
NM_021625.5(TRPV4):c.1492-20dup
|
|
|
NM_021625.5(TRPV4):c.1492-9G>A
|
|
|
NM_021625.5(TRPV4):c.1494G>A (p.Pro498=)
|
|
|
NM_021625.5(TRPV4):c.1497G>A (p.Pro499=)
|
|
|
NM_021625.5(TRPV4):c.1497G>T (p.Pro499=)
|
rs751852169
|
|
NM_021625.5(TRPV4):c.14G>A (p.Ser5Asn)
|
|
|
NM_021625.5(TRPV4):c.1500C>A (p.Tyr500Ter)
|
|
|
NM_021625.5(TRPV4):c.1503T>C (p.Pro501=)
|
rs2136480293
|
|
NM_021625.5(TRPV4):c.1505A>T (p.Tyr502Phe)
|
rs1592830087
|
|
NM_021625.5(TRPV4):c.1513A>G (p.Thr505Ala)
|
|
|
NM_021625.5(TRPV4):c.1515G>C (p.Thr505=)
|
rs1056692999
|
|
NM_021625.5(TRPV4):c.1520A>G (p.Asp507Gly)
|
|
|
NM_021625.5(TRPV4):c.1527dup (p.Arg510fs)
|
|
|
NM_021625.5(TRPV4):c.1552C>T (p.Leu518Phe)
|
rs2136479469
|
|
NM_021625.5(TRPV4):c.1559C>A (p.Thr520Asn)
|
rs2136479390
|
|
NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)
|
|
|
NM_021625.5(TRPV4):c.1563G>T (p.Gly521=)
|
rs750906932
|
|
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)
|
rs1393630996
|
|
NM_021625.5(TRPV4):c.1584+12G>A
|
rs375908611
|
|
NM_021625.5(TRPV4):c.1584+14C>T
|
rs1164262836
|
|
NM_021625.5(TRPV4):c.1584+15C>T
|
|
|
NM_021625.5(TRPV4):c.1584+17dup
|
rs1011607708
|
|
NM_021625.5(TRPV4):c.1584+18G>C
|
rs10850750
|
|
NM_021625.5(TRPV4):c.1584+1G>C
|
rs775922797
|
|
NM_021625.5(TRPV4):c.1584+20G>A
|
|
|
NM_021625.5(TRPV4):c.1584+5G>C
|
|
|
NM_021625.5(TRPV4):c.1584+7G>T
|
rs1182121596
|
|
NM_021625.5(TRPV4):c.1585-12C>T
|
|
|
NM_021625.5(TRPV4):c.1585-14dup
|
|
|
NM_021625.5(TRPV4):c.1590A>C (p.Lys530Asn)
|
|
|
NM_021625.5(TRPV4):c.1601T>A (p.Met534Lys)
|
rs775011025
|
|
NM_021625.5(TRPV4):c.1611C>T (p.Cys537=)
|
rs1407714132
|
|
NM_021625.5(TRPV4):c.1616G>T (p.Gly539Val)
|
|
|
NM_021625.5(TRPV4):c.161C>G (p.Ala54Gly)
|
rs753813565
|
|
NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)
|
|
|
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)
|
rs387906902
|
|
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys)
|
rs387906902
|
|
NM_021625.5(TRPV4):c.1627C>G (p.Leu543Val)
|
|
|
NM_021625.5(TRPV4):c.1627C>T (p.Leu543Phe)
|
rs779325064
|
|
NM_021625.5(TRPV4):c.1636G>A (p.Asp546Asn)
|
|
|
NM_021625.5(TRPV4):c.1639G>T (p.Gly547Cys)
|
|
|
NM_021625.5(TRPV4):c.1642T>C (p.Ser548Pro)
|
rs2136474950
|
|
NM_021625.5(TRPV4):c.1658+15_1658+21del
|
|
|
NM_021625.5(TRPV4):c.1658+16T>C
|
|
|
NM_021625.5(TRPV4):c.1658+1G>A
|
|
|
NM_021625.5(TRPV4):c.1658+20C>G
|
|
|
NM_021625.5(TRPV4):c.1658+7A>G
|
rs1890172061
|
|
NM_021625.5(TRPV4):c.1659-1G>A
|
|
|
NM_021625.5(TRPV4):c.1659-7A>G
|
|
|
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del)
|
rs1890129676
|
|
NM_021625.5(TRPV4):c.1678del (p.Leu559_Val560insTer)
|
|
|
NM_021625.5(TRPV4):c.167G>A (p.Arg56His)
|
rs767169716
|
|
NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu)
|
rs767169716
|
|
NM_021625.5(TRPV4):c.1689A>G (p.Ser563=)
|
rs2136469436
|
|
NM_021625.5(TRPV4):c.1696C>T (p.Leu566Phe)
|
rs144583941
|
|
NM_021625.5(TRPV4):c.1698C>G (p.Leu566=)
|
rs753509572
|
|
NM_021625.5(TRPV4):c.1706C>G (p.Ala569Gly)
|
rs1565864489
|
|
NM_021625.5(TRPV4):c.1713C>T (p.Ile571=)
|
rs185933892
|
|
NM_021625.5(TRPV4):c.1714G>A (p.Glu572Lys)
|
rs1312427314
|
|
NM_021625.5(TRPV4):c.1714G>C (p.Glu572Gln)
|
rs1312427314
|
|
NM_021625.5(TRPV4):c.1731G>T (p.Val577=)
|
rs1592827611
|
|
NM_021625.5(TRPV4):c.1741G>A (p.Ala581Thr)
|
|
|
NM_021625.5(TRPV4):c.1746G>C (p.Leu582=)
|
rs1165773272
|
|
NM_021625.5(TRPV4):c.174T>C (p.Ala58=)
|
rs774161754
|
|
NM_021625.5(TRPV4):c.1773C>T (p.Tyr591=)
|
rs1890123640
|
|
NM_021625.5(TRPV4):c.1778C>G (p.Thr593Ser)
|
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
|
rs1252509184
|
|
NM_021625.5(TRPV4):c.1784G>T (p.Gly595Val)
|
rs2136468285
|
|
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg)
|
rs769225216
|
|
NM_021625.5(TRPV4):c.1797G>A (p.Thr599=)
|
|
|
NM_021625.5(TRPV4):c.1799G>A (p.Gly600Glu)
|
rs2136468103
|
|
NM_021625.5(TRPV4):c.179C>G (p.Pro60Arg)
|
rs763266931
|
|
NM_021625.5(TRPV4):c.180A>G (p.Pro60=)
|
|
|
NM_021625.5(TRPV4):c.1824+17C>A
|
rs1890119108
|
|
NM_021625.5(TRPV4):c.1824+1G>A
|
rs758491211
|
|
NM_021625.5(TRPV4):c.1825-10G>A
|
|
|
NM_021625.5(TRPV4):c.1825-14G>T
|
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1825-5T>C
|
|
|
NM_021625.5(TRPV4):c.1825-8G>A
|
rs1565864062
|
|
NM_021625.5(TRPV4):c.1825A>C (p.Ile609Leu)
|
rs2136466571
|
|
NM_021625.5(TRPV4):c.1828C>T (p.Leu610Phe)
|
rs2136466528
|
|
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)
|
rs121912632
|
|
NM_021625.5(TRPV4):c.1849T>C (p.Phe617Leu)
|
rs2136466291
|
|
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)
|
rs515726162
|
|
NM_021625.5(TRPV4):c.1857C>A (p.Leu619=)
|
|
|
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633
|
|
NM_021625.5(TRPV4):c.1867del (p.Leu623fs)
|
rs1890102629
|
|
NM_021625.5(TRPV4):c.1869C>T (p.Leu623=)
|
rs1890102256
|
|
NM_021625.5(TRPV4):c.1874T>C (p.Met625Thr)
|
|
|
NM_021625.5(TRPV4):c.1878C>G (p.Ile626Met)
|
|
|
NM_021625.5(TRPV4):c.1878C>T (p.Ile626=)
|
rs758026363
|
|
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser)
|
rs998369017
|
|
NM_021625.5(TRPV4):c.1891+7T>C
|
|
|
NM_021625.5(TRPV4):c.1892-13T>A
|
|
|
NM_021625.5(TRPV4):c.1907T>C (p.Leu636Pro)
|
|
|
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
|
|
|
NM_021625.5(TRPV4):c.1924A>G (p.Met642Val)
|
|
|
NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu)
|
rs1411091303
|
|
NM_021625.5(TRPV4):c.1925T>A (p.Met642Lys)
|
rs1368161455
|
|
NM_021625.5(TRPV4):c.1932G>A (p.Val644=)
|
|
|
NM_021625.5(TRPV4):c.1935C>T (p.Cys645=)
|
|
|
NM_021625.5(TRPV4):c.1941G>A (p.Glu647=)
|
|
|
NM_021625.5(TRPV4):c.1949C>A (p.Thr650Asn)
|
rs1249629161
|
|
NM_021625.5(TRPV4):c.1952A>C (p.Asn651Thr)
|
|
|
NM_021625.5(TRPV4):c.1957A>C (p.Thr653Pro)
|
rs769927678
|
|
NM_021625.5(TRPV4):c.1957A>G (p.Thr653Ala)
|
rs769927678
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
|
NM_021625.5(TRPV4):c.1963C>G (p.Pro655Ala)
|
|
|
NM_021625.5(TRPV4):c.1971C>A (p.Tyr657Ter)
|
rs1951172791
|
|
NM_021625.5(TRPV4):c.1972C>A (p.Pro658Thr)
|
|
|
NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly)
|
rs1889846400
|
|
NM_021625.5(TRPV4):c.1989C>G (p.Ser663Arg)
|
rs778560334
|
|
NM_021625.5(TRPV4):c.1993A>G (p.Thr665Ala)
|
|
|
NM_021625.5(TRPV4):c.2000G>A (p.Ser667Asn)
|
rs756867557
|
|
NM_021625.5(TRPV4):c.2000G>C (p.Ser667Thr)
|
|
|
NM_021625.5(TRPV4):c.203G>A (p.Arg68His)
|
rs747215384
|
|
NM_021625.5(TRPV4):c.203G>T (p.Arg68Leu)
|
rs747215384
|
|
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn)
|
rs968378720
|
|
NM_021625.5(TRPV4):c.2045A>G (p.Asp682Gly)
|
|
|
NM_021625.5(TRPV4):c.2073C>T (p.Tyr691=)
|
rs2136441439
|
|
NM_021625.5(TRPV4):c.2091C>T (p.Ile697=)
|
rs2136441311
|
|
NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn)
|
rs1889838365
|
|
NM_021625.5(TRPV4):c.2130C>A (p.Leu710=)
|
rs755736749
|
|
NM_021625.5(TRPV4):c.2133C>A (p.Leu711=)
|
|
|
NM_021625.5(TRPV4):c.213C>G (p.Phe71Leu)
|
|
|
NM_021625.5(TRPV4):c.2151C>A (p.Leu717=)
|
rs1555205372
|
|
NM_021625.5(TRPV4):c.2163A>G (p.Thr721=)
|
|
|
NM_021625.5(TRPV4):c.2169C>T (p.Gly723=)
|
|
|
NM_021625.5(TRPV4):c.2184G>A (p.Glu728=)
|
rs2136440447
|
|
NM_021625.5(TRPV4):c.2184G>C (p.Glu728Asp)
|
rs2136440447
|
|
NM_021625.5(TRPV4):c.2187C>A (p.Ser729Arg)
|
rs1889832143
|
|
NM_021625.5(TRPV4):c.2192A>G (p.His731Arg)
|
rs1463500359
|
|
NM_021625.5(TRPV4):c.2208+14G>A
|
|
|
NM_021625.5(TRPV4):c.2208+14G>T
|
rs770836806
|
|
NM_021625.5(TRPV4):c.2208+19del
|
rs1410930643
|
|
NM_021625.5(TRPV4):c.2208+7C>G
|
rs1218317076
|
|
NM_021625.5(TRPV4):c.2209-13_2209-5dup
|
|
|
NM_021625.5(TRPV4):c.2209-15C>T
|
|
|
NM_021625.5(TRPV4):c.2209-8C>G
|
rs1003284993
|
|
NM_021625.5(TRPV4):c.2209-8C>T
|
|
|
NM_021625.5(TRPV4):c.2209T>C (p.Trp737Arg)
|
|
|
NM_021625.5(TRPV4):c.2209T>G (p.Trp737Gly)
|
|
|
NM_021625.5(TRPV4):c.220G>A (p.Ala74Thr)
|
|
|
NM_021625.5(TRPV4):c.2211G>C (p.Trp737Cys)
|
rs1035249096
|
|
NM_021625.5(TRPV4):c.2213C>T (p.Ala738Val)
|
|
|
NM_021625.5(TRPV4):c.2217C>G (p.Thr739=)
|
rs2136431717
|
|
NM_021625.5(TRPV4):c.223T>C (p.Phe75Leu)
|
|
|
NM_021625.5(TRPV4):c.2240C>T (p.Ser747Phe)
|
|
|
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)
|
rs1555205050
|
|
NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu)
|
rs1889714537
|
|
NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val)
|
rs746363121
|
|
NM_021625.5(TRPV4):c.2271del (p.Ser758fs)
|
rs1889712036
|
|
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys)
|
rs778014423
|
|
NM_021625.5(TRPV4):c.227G>A (p.Arg76His)
|
|
|
NM_021625.5(TRPV4):c.228C>T (p.Arg76=)
|
|
|
NM_021625.5(TRPV4):c.2290G>A (p.Val764Met)
|
rs750416252
|
|
NM_021625.5(TRPV4):c.2290G>T (p.Val764Leu)
|
rs750416252
|
|
NM_021625.5(TRPV4):c.2294G>A (p.Gly765Asp)
|
|
|
NM_021625.5(TRPV4):c.229A>G (p.Lys77Glu)
|
rs1565883324
|
|
NM_021625.5(TRPV4):c.2301C>T (p.Ser767=)
|
|
|
NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)
|
|
|
NM_021625.5(TRPV4):c.2304G>A (p.Ser768=)
|
rs138986228
|
|
NM_021625.5(TRPV4):c.2308G>A (p.Gly770Ser)
|
|
|
NM_021625.5(TRPV4):c.2311A>C (p.Thr771Pro)
|
|
|
NM_021625.5(TRPV4):c.2313T>A (p.Thr771=)
|
|
|
NM_021625.5(TRPV4):c.2315C>T (p.Pro772Leu)
|
rs1889708727
|
|
NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)
|
|
|
NM_021625.5(TRPV4):c.2334C>T (p.Phe778=)
|
|
|
NM_021625.5(TRPV4):c.2336+16T>G
|
|
|
NM_021625.5(TRPV4):c.2336+18G>A
|
|
|
NM_021625.5(TRPV4):c.2336+7C>T
|
|
|
NM_021625.5(TRPV4):c.2336+8T>C
|
|
|
NM_021625.5(TRPV4):c.2337-13T>A
|
|
|
NM_021625.5(TRPV4):c.2337-15C>T
|
|
|
NM_021625.5(TRPV4):c.2337-16G>A
|
rs373195035
|
|
NM_021625.5(TRPV4):c.2337-6T>C
|
|
|
NM_021625.5(TRPV4):c.2338G>A (p.Val780Met)
|
|
|
NM_021625.5(TRPV4):c.2338G>T (p.Val780Leu)
|
|
|
NM_021625.5(TRPV4):c.2354G>C (p.Trp785Ser)
|
|
|
NM_021625.5(TRPV4):c.2361C>T (p.His787=)
|
rs1889550403
|
|
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp)
|
rs1451788224
|
|
NM_021625.5(TRPV4):c.237G>A (p.Val79=)
|
rs2136660284
|
|
NM_021625.5(TRPV4):c.2385C>T (p.Ile795=)
|
rs770434546
|
|
NM_021625.5(TRPV4):c.2386_2388del (p.Asn796del)
|
rs1889549195
|
|
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
|
rs267607149
|
|
NM_021625.5(TRPV4):c.238C>T (p.Pro80Ser)
|
|
|
NM_021625.5(TRPV4):c.2395C>A (p.Pro799Thr)
|
rs267607147
|
|
NM_021625.5(TRPV4):c.2396C>A (p.Pro799Gln)
|
|
|
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)
|
rs121912637
|
|
NM_021625.5(TRPV4):c.2397G>A (p.Pro799=)
|
rs141301107
|
|
NM_021625.5(TRPV4):c.239C>T (p.Pro80Leu)
|
rs2136660243
|
|
NM_021625.5(TRPV4):c.2418G>A (p.Gln806=)
|
rs1157330201
|
|
NM_021625.5(TRPV4):c.2421T>C (p.Tyr807=)
|
rs2136417346
|
|
NM_021625.5(TRPV4):c.2426G>A (p.Gly809Asp)
|
rs2136417276
|
|
NM_021625.5(TRPV4):c.242A>G (p.Asn81Ser)
|
rs2136660218
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
NM_021625.5(TRPV4):c.243C>G (p.Asn81Lys)
|
|
|
NM_021625.5(TRPV4):c.2446C>G (p.Arg816Gly)
|
rs748742151
|
|
NM_021625.5(TRPV4):c.2456G>A (p.Arg819Lys)
|
rs1565857540
|
|
NM_021625.5(TRPV4):c.2457G>A (p.Arg819=)
|
|
|
NM_021625.5(TRPV4):c.2458+15G>A
|
|
|
NM_021625.5(TRPV4):c.2458+15G>T
|
rs372913114
|
|
NM_021625.5(TRPV4):c.2458+17G>A
|
|
|
NM_021625.5(TRPV4):c.2458+4A>C
|
rs2136416943
|
|
NM_021625.5(TRPV4):c.2458+7G>A
|
|
|
NM_021625.5(TRPV4):c.2459-10C>T
|
|
|
NM_021625.5(TRPV4):c.2459-11T>C
|
|
|
NM_021625.5(TRPV4):c.2459-20C>G
|
|
|
NM_021625.5(TRPV4):c.2459-5T>C
|
|
|
NM_021625.5(TRPV4):c.245C>G (p.Pro82Arg)
|
rs767079858
|
|
NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)
|
|
|
NM_021625.5(TRPV4):c.2470T>A (p.Ser824Thr)
|
|
|
NM_021625.5(TRPV4):c.2473G>C (p.Val825Leu)
|
rs1889497846
|
|
NM_021625.5(TRPV4):c.247A>G (p.Ile83Val)
|
|
|
NM_021625.5(TRPV4):c.2480C>A (p.Pro827His)
|
rs2136413100
|
|
NM_021625.5(TRPV4):c.2481C>T (p.Pro827=)
|
rs775524996
|
|
NM_021625.5(TRPV4):c.2482C>A (p.Arg828Ser)
|
rs1467984181
|
|
NM_021625.5(TRPV4):c.2482C>T (p.Arg828Cys)
|
|
|
NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)
|
|
|
NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala)
|
rs1565856891
|
|
NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)
|
|
|
NM_021625.5(TRPV4):c.2495T>G (p.Leu832Arg)
|
rs1565856842
|
|
NM_021625.5(TRPV4):c.2496G>C (p.Leu832=)
|
rs374298483
|
|
NM_021625.5(TRPV4):c.249C>T (p.Ile83=)
|
|
|
NM_021625.5(TRPV4):c.2508G>T (p.Ser836=)
|
|
|
NM_021625.5(TRPV4):c.250G>A (p.Asp84Asn)
|
rs908406423
|
|
NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)
|
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NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del)
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NM_021625.5(TRPV4):c.2521G>A (p.Val841Met)
|
rs1592812166
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NM_021625.5(TRPV4):c.2523G>A (p.Val841=)
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NM_021625.5(TRPV4):c.2526G>A (p.Val842=)
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NM_021625.5(TRPV4):c.2530C>A (p.Pro844Thr)
|
rs2136412583
|
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NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys)
|
rs571407723
|
|
NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del)
|
rs1555204381
|
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NM_021625.5(TRPV4):c.255G>A (p.Leu85=)
|
rs2136659978
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|
NM_021625.5(TRPV4):c.2560G>C (p.Asp854His)
|
rs368963822
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NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)
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NM_021625.5(TRPV4):c.2568C>T (p.His856=)
|
rs2136412290
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NM_021625.5(TRPV4):c.2570A>G (p.Gln857Arg)
|
rs1262126429
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NM_021625.5(TRPV4):c.2575G>T (p.Gly859Cys)
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NM_021625.5(TRPV4):c.2581C>T (p.Pro861Ser)
|
rs561101128
|
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NM_021625.5(TRPV4):c.2584del (p.Arg862fs)
|
rs746597270
|
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NM_021625.5(TRPV4):c.2592G>T (p.Trp864Cys)
|
rs966904634
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NM_021625.5(TRPV4):c.2595del (p.Thr866fs)
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NM_021625.5(TRPV4):c.2598T>G (p.Thr866=)
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NM_021625.5(TRPV4):c.25C>G (p.Arg9Gly)
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NM_021625.5(TRPV4):c.2605G>T (p.Ala869Ser)
|
rs138396764
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NM_021625.5(TRPV4):c.268C>T (p.Leu90=)
|
rs2136659904
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NM_021625.5(TRPV4):c.27C>T (p.Arg9=)
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NM_021625.5(TRPV4):c.282G>A (p.Ser94=)
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NM_021625.5(TRPV4):c.283G>A (p.Val95Met)
|
rs1891735247
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NM_021625.5(TRPV4):c.286G>T (p.Val96Leu)
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NM_021625.5(TRPV4):c.288G>T (p.Val96=)
|
rs1456271134
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NM_021625.5(TRPV4):c.28G>A (p.Ala10Thr)
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NM_021625.5(TRPV4):c.30G>A (p.Ala10=)
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NM_021625.5(TRPV4):c.313G>A (p.Asp105Asn)
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NM_021625.5(TRPV4):c.313G>T (p.Asp105Tyr)
|
rs2136659447
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NM_021625.5(TRPV4):c.326A>G (p.Asp109Gly)
|
rs1131691532
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NM_021625.5(TRPV4):c.336C>A (p.Thr112=)
|
rs969086736
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NM_021625.5(TRPV4):c.34C>T (p.Pro12Ser)
|
rs1416476726
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NM_021625.5(TRPV4):c.351C>T (p.Ser117=)
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NM_021625.5(TRPV4):c.352dup (p.Ser118fs)
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NM_021625.5(TRPV4):c.357CAA[1] (p.Asn120del)
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NM_021625.5(TRPV4):c.371G>A (p.Arg124Lys)
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NM_021625.5(TRPV4):c.373A>G (p.Lys125Glu)
|
rs1421114267
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NM_021625.5(TRPV4):c.374AGA[1] (p.Lys126del)
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NM_021625.5(TRPV4):c.379A>T (p.Ile127Phe)
|
rs1367833016
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NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg)
|
rs763302555
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NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg)
|
rs763302555
|
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NM_021625.5(TRPV4):c.386+15C>G
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NM_021625.5(TRPV4):c.386+9T>C
|
rs2136658499
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NM_021625.5(TRPV4):c.389A>T (p.Lys130Met)
|
rs1891283509
|
|
NM_021625.5(TRPV4):c.396G>A (p.Pro132=)
|
rs114101785
|
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NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
|
rs114101785
|
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NM_021625.5(TRPV4):c.402C>T (p.Ser134=)
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|
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NM_021625.5(TRPV4):c.413C>A (p.Pro138His)
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NM_021625.5(TRPV4):c.417C>T (p.Ala139=)
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NM_021625.5(TRPV4):c.41A>T (p.Glu14Val)
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NM_021625.5(TRPV4):c.421C>G (p.Gln141Glu)
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NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr)
|
rs201642486
|
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NM_021625.5(TRPV4):c.427C>T (p.Pro143Ser)
|
rs201642486
|
|
NM_021625.5(TRPV4):c.432C>T (p.Pro144=)
|
rs1287007133
|
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NM_021625.5(TRPV4):c.435C>T (p.Ile145=)
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|
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NM_021625.5(TRPV4):c.439A>T (p.Lys147Ter)
|
rs1032750471
|
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NM_021625.5(TRPV4):c.43G>A (p.Val15Met)
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|
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NM_021625.5(TRPV4):c.446T>A (p.Phe149Tyr)
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NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile)
|
rs1376333910
|
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NM_021625.5(TRPV4):c.450C>T (p.Asn150=)
|
rs2136608535
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NM_021625.5(TRPV4):c.451C>T (p.Arg151Trp)
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|
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NM_021625.5(TRPV4):c.452G>A (p.Arg151Gln)
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NM_021625.5(TRPV4):c.471C>T (p.Ile157=)
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NM_021625.5(TRPV4):c.478del (p.Arg160fs)
|
rs1064796238
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NM_021625.5(TRPV4):c.495C>T (p.Asp165=)
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NM_021625.5(TRPV4):c.500A>T (p.Asp167Val)
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NM_021625.5(TRPV4):c.508C>T (p.Leu170Phe)
|
rs2136607765
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NM_021625.5(TRPV4):c.511C>T (p.Pro171Ser)
|
rs2136607717
|
|
NM_021625.5(TRPV4):c.512C>T (p.Pro171Leu)
|
|
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NM_021625.5(TRPV4):c.51G>A (p.Glu17=)
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|
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NM_021625.5(TRPV4):c.524C>A (p.Thr175Asn)
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|
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NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys)
|
rs387906324
|
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NM_021625.5(TRPV4):c.548A>T (p.Glu183Val)
|
rs2136607376
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
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NM_021625.5(TRPV4):c.559+10C>A
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|
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NM_021625.5(TRPV4):c.573dup (p.Lys192fs)
|
rs1890915679
|
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NM_021625.5(TRPV4):c.581G>A (p.Cys194Tyr)
|
rs1890914888
|
|
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg)
|
rs387906903
|
|
NM_021625.5(TRPV4):c.592G>A (p.Ala198Thr)
|
rs761966856
|
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NM_021625.5(TRPV4):c.594C>G (p.Ala198=)
|
rs1890913966
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NM_021625.5(TRPV4):c.5C>T (p.Ala2Val)
|
|
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NM_021625.5(TRPV4):c.602A>G (p.Asn201Ser)
|
rs1555208698
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NM_021625.5(TRPV4):c.603C>T (p.Asn201=)
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|
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NM_021625.5(TRPV4):c.604C>G (p.Leu202Val)
|
rs1890913335
|
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NM_021625.5(TRPV4):c.617G>A (p.Arg206His)
|
rs373108373
|
|
NM_021625.5(TRPV4):c.617G>T (p.Arg206Leu)
|
rs373108373
|
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NM_021625.5(TRPV4):c.61G>A (p.Asp21Asn)
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|
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NM_021625.5(TRPV4):c.621C>G (p.Asn207Lys)
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|
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NM_021625.5(TRPV4):c.634G>A (p.Val212Met)
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NM_021625.5(TRPV4):c.648C>G (p.Ile216Met)
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|
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NM_021625.5(TRPV4):c.649G>A (p.Ala217Thr)
|
rs187864727
|
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NM_021625.5(TRPV4):c.657C>T (p.Arg219=)
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|
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NM_021625.5(TRPV4):c.662G>A (p.Gly221Asp)
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|
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NM_021625.5(TRPV4):c.670_671delinsCA (p.Arg224Gln)
|
rs1555208643
|
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NM_021625.5(TRPV4):c.672G>A (p.Arg224=)
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|
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NM_021625.5(TRPV4):c.673del (p.Glu225fs)
|
rs1191019525
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NM_021625.5(TRPV4):c.675G>A (p.Glu225=)
|
|
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NM_021625.5(TRPV4):c.687G>C (p.Ser229=)
|
rs545660001
|
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NM_021625.5(TRPV4):c.689C>T (p.Pro230Leu)
|
rs1890901106
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro)
|
rs769107613
|
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NM_021625.5(TRPV4):c.701T>C (p.Ile234Thr)
|
rs1555208627
|
|
NM_021625.5(TRPV4):c.706T>C (p.Tyr236His)
|
|
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NM_021625.5(TRPV4):c.709C>G (p.Arg237Gly)
|
rs746368269
|
|
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)
|
rs1289139464
|
|
NM_021625.5(TRPV4):c.712+11G>A
|
|
|
NM_021625.5(TRPV4):c.713-2dup
|
rs760776284
|
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NM_021625.5(TRPV4):c.713-7C>G
|
rs1890730627
|
|
NM_021625.5(TRPV4):c.718A>T (p.Thr240Ser)
|
|
|
NM_021625.5(TRPV4):c.719C>T (p.Thr240Ile)
|
rs750340562
|
|
NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr)
|
rs761829753
|
|
NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)
|
|
|
NM_021625.5(TRPV4):c.740_741del (p.Glu247fs)
|
|
|
NM_021625.5(TRPV4):c.749G>A (p.Cys250Tyr)
|
rs937032628
|
|
NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)
|
|
|
NM_021625.5(TRPV4):c.752A>G (p.Lys251Arg)
|
rs1890725320
|
|
NM_021625.5(TRPV4):c.757T>C (p.Tyr253His)
|
rs973315587
|
|
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.761_763del (p.Val254del)
|
rs1890724382
|
|
NM_021625.5(TRPV4):c.762G>A (p.Val254=)
|
rs2136537855
|
|
NM_021625.5(TRPV4):c.781G>A (p.Gly261Arg)
|
|
|
NM_021625.5(TRPV4):c.789_790inv (p.Val264Ile)
|
|
|
NM_021625.5(TRPV4):c.792C>A (p.Val264=)
|
rs867185488
|
|
NM_021625.5(TRPV4):c.79G>A (p.Gly27Ser)
|
|
|
NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser)
|
rs267607146
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.820C>T (p.Gln274Ter)
|
rs1592842140
|
|
NM_021625.5(TRPV4):c.827A>C (p.Lys276Thr)
|
rs1592842115
|
|
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)
|
rs267607148
|
|
NM_021625.5(TRPV4):c.834G>T (p.Glu278Asp)
|
rs529115496
|
|
NM_021625.5(TRPV4):c.838G>A (p.Gly280Ser)
|
rs763354006
|
|
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser)
|
rs1555208063
|
|
NM_021625.5(TRPV4):c.845dup (p.Tyr283fs)
|
|
|
NM_021625.5(TRPV4):c.853+12C>T
|
|
|
NM_021625.5(TRPV4):c.853+17T>G
|
|
|
NM_021625.5(TRPV4):c.854-20C>T
|
|
|
NM_021625.5(TRPV4):c.858G>A (p.Glu286=)
|
rs1397584157
|
|
NM_021625.5(TRPV4):c.872T>C (p.Leu291Pro)
|
|
|
NM_021625.5(TRPV4):c.88G>A (p.Ala30Thr)
|
|
|
NM_021625.5(TRPV4):c.895dup (p.His299fs)
|
|
|
NM_021625.5(TRPV4):c.897C>T (p.His299=)
|
|
|
NM_021625.5(TRPV4):c.8A>G (p.Asp3Gly)
|
|
|
NM_021625.5(TRPV4):c.903C>G (p.Val301=)
|
rs748103823
|
|
NM_021625.5(TRPV4):c.910C>T (p.Leu304=)
|
|
|
NM_021625.5(TRPV4):c.915G>C (p.Thr305=)
|
rs1565870990
|
|
NM_021625.5(TRPV4):c.921C>T (p.Asn307=)
|
rs1259756946
|
|
NM_021625.5(TRPV4):c.923C>T (p.Pro308Leu)
|
|
|
NM_021625.5(TRPV4):c.925C>T (p.His309Tyr)
|
rs1184985507
|
|
NM_021625.5(TRPV4):c.928A>G (p.Lys310Glu)
|
|
|
NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)
|
rs267607143
|
|
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln)
|
rs1064795696
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu)
|
rs387906905
|
|
NM_021625.5(TRPV4):c.949del (p.Gln317fs)
|
|
|
NM_021625.5(TRPV4):c.957G>A (p.Ser319=)
|
rs116698155
|
|
NM_021625.5(TRPV4):c.957G>C (p.Ser319=)
|
rs116698155
|
|
NM_021625.5(TRPV4):c.957G>T (p.Ser319=)
|
|
|
NM_021625.5(TRPV4):c.962G>T (p.Gly321Val)
|
|
|
NM_021625.5(TRPV4):c.966C>T (p.Asn322=)
|
rs1592838926
|
|
NM_021625.5(TRPV4):c.969A>C (p.Thr323=)
|
|
|
NM_021625.5(TRPV4):c.973C>T (p.Leu325=)
|
|
|
NM_021625.5(TRPV4):c.978T>A (p.His326Gln)
|
rs1890587000
|
|
NM_021625.5(TRPV4):c.980C>T (p.Ala327Val)
|
rs1179420073
|
|
NM_021625.5(TRPV4):c.985G>A (p.Val329Met)
|
rs2136519623
|
|
NM_021625.5(TRPV4):c.997G>T (p.Asp333Tyr)
|
rs2136519490
|
|
NM_021629.4(GNB4):c.1020T>C (p.Asn340=)
|
|
|
NM_021629.4(GNB4):c.102del (p.Ser35fs)
|
rs2108595883
|
|
NM_021629.4(GNB4):c.107A>T (p.Asn36Ile)
|
rs1577031106
|
|
NM_021629.4(GNB4):c.135G>A (p.Met45Ile)
|
|
|
NM_021629.4(GNB4):c.136C>T (p.Arg46Ter)
|
rs1252790676
|
|
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)
|
rs387907340
|
|
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)
|
rs1714910248
|
|
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu)
|
rs1163990709
|
|
NM_021629.4(GNB4):c.181A>T (p.Met61Leu)
|
|
|
NM_021629.4(GNB4):c.185A>C (p.His62Pro)
|
rs879741255
|
|
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn)
|
rs864622729
|
|
NM_021629.4(GNB4):c.200C>T (p.Ser67Phe)
|
|
|
NM_021629.4(GNB4):c.201C>T (p.Ser67=)
|
|
|
NM_021629.4(GNB4):c.203+10T>G
|
|
|
NM_021629.4(GNB4):c.204-3T>C
|
|
|
NM_021629.4(GNB4):c.204-4C>T
|
rs377746889
|
|
NM_021629.4(GNB4):c.204-6C>G
|
rs752116156
|
|
NM_021629.4(GNB4):c.227A>G (p.Asp76Gly)
|
rs1714805406
|
|
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg)
|
rs1553851490
|
|
NM_021629.4(GNB4):c.254A>G (p.Tyr85Cys)
|
|
|
NM_021629.4(GNB4):c.265A>C (p.Lys89Gln)
|
rs387907341
|
|
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)
|
rs387907341
|
|
NM_021629.4(GNB4):c.267+20C>A
|
|
|
NM_021629.4(GNB4):c.268-15_268-11del
|
|
|
NM_021629.4(GNB4):c.268-19T>C
|
|
|
NM_021629.4(GNB4):c.268-4A>G
|
rs566002899
|
|
NM_021629.4(GNB4):c.296G>A (p.Trp99Ter)
|
|
|
NM_021629.4(GNB4):c.311C>T (p.Ala104Val)
|
rs761510333
|
|
NM_021629.4(GNB4):c.332A>T (p.Tyr111Phe)
|
|
|
NM_021629.4(GNB4):c.334G>A (p.Val112Ile)
|
rs1186398900
|
|
NM_021629.4(GNB4):c.339C>T (p.Ala113=)
|
|
|
NM_021629.4(GNB4):c.356A>G (p.Asn119Ser)
|
rs2108591079
|
|
NM_021629.4(GNB4):c.35A>G (p.Glu12Gly)
|
|
|
NM_021629.4(GNB4):c.368T>C (p.Ile123Thr)
|
|
|
NM_021629.4(GNB4):c.380dup (p.Thr128fs)
|
|
|
NM_021629.4(GNB4):c.388G>C (p.Glu130Gln)
|
|
|
NM_021629.4(GNB4):c.399G>C (p.Val133=)
|
rs2108591002
|
|
NM_021629.4(GNB4):c.402A>G (p.Arg134=)
|
|
|
NM_021629.4(GNB4):c.403G>A (p.Val135Ile)
|
|
|
NM_021629.4(GNB4):c.409C>A (p.Arg137=)
|
|
|
NM_021629.4(GNB4):c.429A>G (p.Thr143=)
|
rs1577029046
|
|
NM_021629.4(GNB4):c.430+13A>G
|
|
|
NM_021629.4(GNB4):c.431-11_431-10del
|
rs778339130
|
|
NM_021629.4(GNB4):c.431-13C>T
|
|
|
NM_021629.4(GNB4):c.431-16A>C
|
|
|
NM_021629.4(GNB4):c.431-5T>C
|
|
|
NM_021629.4(GNB4):c.442T>A (p.Cys148Ser)
|
rs1429474978
|
|
NM_021629.4(GNB4):c.449G>A (p.Arg150His)
|
|
|
NM_021629.4(GNB4):c.45G>T (p.Arg15=)
|
rs1038277192
|
|
NM_021629.4(GNB4):c.471T>G (p.Ile157Met)
|
|
|
NM_021629.4(GNB4):c.482C>A (p.Ser161Ter)
|
|
|
NM_021629.4(GNB4):c.491C>A (p.Thr164Lys)
|
rs769949519
|
|
NM_021629.4(GNB4):c.504A>G (p.Leu168=)
|
|
|
NM_021629.4(GNB4):c.521C>T (p.Ala174Val)
|
rs1714712618
|
|
NM_021629.4(GNB4):c.530C>A (p.Thr177Asn)
|
|
|
NM_021629.4(GNB4):c.540C>G (p.Phe180Leu)
|
|
|
NM_021629.4(GNB4):c.543T>C (p.Thr181=)
|
|
|
NM_021629.4(GNB4):c.560T>C (p.Val187Ala)
|
|
|
NM_021629.4(GNB4):c.57+7C>A
|
|
|
NM_021629.4(GNB4):c.572_575del (p.Leu190_Ser191insTer)
|
|
|
NM_021629.4(GNB4):c.58-14dup
|
rs112500963
|
|
NM_021629.4(GNB4):c.58-18C>T
|
|
|
NM_021629.4(GNB4):c.584A>G (p.Asp195Gly)
|
|
|
NM_021629.4(GNB4):c.58G>C (p.Asp20His)
|
|
|
NM_021629.4(GNB4):c.61G>T (p.Ala21Ser)
|
|
|
NM_021629.4(GNB4):c.624C>T (p.Ser208=)
|
|
|
NM_021629.4(GNB4):c.636T>C (p.Asp212=)
|
|
|
NM_021629.4(GNB4):c.640C>T (p.Arg214Ter)
|
rs748747265
|
|
NM_021629.4(GNB4):c.641G>A (p.Arg214Gln)
|
|
|
NM_021629.4(GNB4):c.645T>C (p.Asp215=)
|
rs755596977
|
|
NM_021629.4(GNB4):c.645T>G (p.Asp215Glu)
|
rs755596977
|
|
NM_021629.4(GNB4):c.65G>A (p.Arg22Gln)
|
|
|
NM_021629.4(GNB4):c.669G>A (p.Thr223=)
|
|
|
NM_021629.4(GNB4):c.681A>G (p.Ser227=)
|
rs2108589151
|
|
NM_021629.4(GNB4):c.697A>G (p.Ser233Gly)
|
rs538233963
|
|
NM_021629.4(GNB4):c.699+10T>C
|
rs1433602623
|
|
NM_021629.4(GNB4):c.699+12G>A
|
|
|
NM_021629.4(GNB4):c.699+14A>G
|
rs2108589120
|
|
NM_021629.4(GNB4):c.700-10T>G
|
rs2108580143
|
|
NM_021629.4(GNB4):c.700-18del
|
rs1456809980
|
|
NM_021629.4(GNB4):c.700-9C>G
|
rs2108580139
|
|
NM_021629.4(GNB4):c.714A>T (p.Gly238=)
|
rs1433615086
|
|
NM_021629.4(GNB4):c.724G>A (p.Ala242Thr)
|
|
|
NM_021629.4(GNB4):c.733T>A (p.Ser245Thr)
|
rs1714435843
|
|
NM_021629.4(GNB4):c.73T>G (p.Cys25Gly)
|
|
|
NM_021629.4(GNB4):c.744C>T (p.Ala248=)
|
rs1207477015
|
|
NM_021629.4(GNB4):c.745A>C (p.Thr249Pro)
|
|
|
NM_021629.4(GNB4):c.747T>C (p.Thr249=)
|
|
|
NM_021629.4(GNB4):c.749G>A (p.Cys250Tyr)
|
|
|
NM_021629.4(GNB4):c.74G>A (p.Cys25Tyr)
|
|
|
NM_021629.4(GNB4):c.750C>T (p.Cys250=)
|
|
|
NM_021629.4(GNB4):c.752G>A (p.Arg251Gln)
|
|
|
NM_021629.4(GNB4):c.756C>G (p.Leu252=)
|
rs371587505
|
|
NM_021629.4(GNB4):c.756C>T (p.Leu252=)
|
|
|
NM_021629.4(GNB4):c.771A>G (p.Ala257=)
|
rs878855069
|
|
NM_021629.4(GNB4):c.783A>G (p.Leu261=)
|
|
|
NM_021629.4(GNB4):c.783ATT[1] (p.Leu263del)
|
rs771274313
|
|
NM_021629.4(GNB4):c.784T>C (p.Leu262=)
|
|
|
NM_021629.4(GNB4):c.784_785insC (p.Leu262fs)
|
|
|
NM_021629.4(GNB4):c.787T>C (p.Leu263=)
|
rs778880529
|
|
NM_021629.4(GNB4):c.789G>A (p.Leu263=)
|
|
|
NM_021629.4(GNB4):c.800A>G (p.Asp267Gly)
|
rs2108579874
|
|
NM_021629.4(GNB4):c.826G>A (p.Val276Ile)
|
rs139774004
|
|
NM_021629.4(GNB4):c.834C>T (p.Phe278=)
|
|
|
NM_021629.4(GNB4):c.839A>G (p.Lys280Arg)
|
|
|
NM_021629.4(GNB4):c.83C>G (p.Ala28Gly)
|
rs1023173121
|
|
NM_021629.4(GNB4):c.847C>T (p.Arg283Cys)
|
|
|
NM_021629.4(GNB4):c.848G>A (p.Arg283His)
|
|
|
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro)
|
rs186593898
|
|
NM_021629.4(GNB4):c.863G>C (p.Gly288Ala)
|
|
|
NM_021629.4(GNB4):c.867C>T (p.Tyr289=)
|
|
|
NM_021629.4(GNB4):c.903A>G (p.Lys301=)
|
rs1167931862
|
|
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)
|
rs1020090528
|
|
NM_021629.4(GNB4):c.916+16C>G
|
|
|
NM_021629.4(GNB4):c.916+17A>C
|
rs1714426501
|
|
NM_021629.4(GNB4):c.916+20T>G
|
|
|
NM_021629.4(GNB4):c.916+3T>C
|
rs2108579668
|
|
NM_021629.4(GNB4):c.917-10T>C
|
rs749107679
|
|
NM_021629.4(GNB4):c.917-12dup
|
rs764075662
|
|
NM_021629.4(GNB4):c.917-15G>C
|
|
|
NM_021629.4(GNB4):c.917-15G>T
|
rs2108575181
|
|
NM_021629.4(GNB4):c.917-20T>C
|
|
|
NM_021629.4(GNB4):c.917-49_917-7del
|
rs2108575167
|
|
NM_021629.4(GNB4):c.917-4del
|
rs764075662
|
|
NM_021629.4(GNB4):c.917-5T>C
|
|
|
NM_021629.4(GNB4):c.919G>T (p.Val307Phe)
|
|
|
NM_021629.4(GNB4):c.921C>T (p.Val307=)
|
rs879100241
|
|
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro)
|
rs1168008697
|
|
NM_021629.4(GNB4):c.939_940del (p.Asn313fs)
|
rs1560208074
|
|
NM_021629.4(GNB4):c.952T>C (p.Leu318=)
|
rs1324179212
|
|
NM_021629.4(GNB4):c.957T>G (p.Gly319=)
|
|
|
NM_021629.4(GNB4):c.958G>T (p.Val320Leu)
|
|
|
NM_021629.4(GNB4):c.96+16T>C
|
|
|
NM_021629.4(GNB4):c.96+17C>A
|
|
|
NM_021629.4(GNB4):c.96+17_96+20del
|
rs1388221736
|
|
NM_021629.4(GNB4):c.96+2T>C
|
rs2108597364
|
|
NM_021629.4(GNB4):c.97-1_98del
|
rs776641307
|
|
NM_021629.4(GNB4):c.981G>A (p.Val327=)
|
rs2108575061
|
|
NM_022489.4(INF2):c.1005G>A (p.Glu335=)
|
|
|
NM_022489.4(INF2):c.1010T>A (p.Val337Glu)
|
|
|
NM_022489.4(INF2):c.1018C>A (p.Arg340=)
|
|
|
NM_022489.4(INF2):c.1020G>T (p.Arg340=)
|
|
|
NM_022489.4(INF2):c.102C>T (p.Asp34=)
|
rs2140638234
|
|
NM_022489.4(INF2):c.1039C>T (p.Arg347Ter)
|
rs2140666903
|
|
NM_022489.4(INF2):c.1044C>T (p.Pro348=)
|
|
|
NM_022489.4(INF2):c.1049C>A (p.Pro350Gln)
|
|
|
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg)
|
rs1889825135
|
|
NM_022489.4(INF2):c.1063_1080dup (p.Val360_Gln361insLysAlaHisLysSerVal)
|
|
|
NM_022489.4(INF2):c.1076G>A (p.Ser359Asn)
|
|
|
NM_022489.4(INF2):c.1077C>T (p.Ser359=)
|
|
|
NM_022489.4(INF2):c.1093G>A (p.Asp365Asn)
|
|
|
NM_022489.4(INF2):c.1095C>A (p.Asp365Glu)
|
rs2140667164
|
|
NM_022489.4(INF2):c.1101C>T (p.Ser367=)
|
rs1447003375
|
|
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly)
|
rs1889828741
|
|
NM_022489.4(INF2):c.1110C>A (p.Gly370=)
|
rs2140667246
|
|
NM_022489.4(INF2):c.1111A>G (p.Ser371Gly)
|
|
|
NM_022489.4(INF2):c.111G>A (p.Leu37=)
|
|
|
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser)
|
rs376942822
|
|
NM_022489.4(INF2):c.1128T>C (p.Thr376=)
|
|
|
NM_022489.4(INF2):c.1133C>A (p.Thr378Asn)
|
|
|
NM_022489.4(INF2):c.1177G>A (p.Ala393Thr)
|
|
|
NM_022489.4(INF2):c.1177G>C (p.Ala393Pro)
|
rs2140667487
|
|
NM_022489.4(INF2):c.1183G>C (p.Glu395Gln)
|
rs374769850
|
|
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala)
|
rs1416561484
|
|
NM_022489.4(INF2):c.1188C>G (p.Pro396=)
|
rs747696039
|
|
NM_022489.4(INF2):c.1188C>T (p.Pro396=)
|
rs747696039
|
|
NM_022489.4(INF2):c.1193A>G (p.Asp398Gly)
|
|
|
NM_022489.4(INF2):c.119G>C (p.Arg40Pro)
|
rs1437016055
|
|
NM_022489.4(INF2):c.1211G>T (p.Ser404Ile)
|
rs759535604
|
|
NM_022489.4(INF2):c.1217_1228del (p.Leu406_Ser409del)
|
|
|
NM_022489.4(INF2):c.1224T>C (p.Val408=)
|
rs2140667715
|
|
NM_022489.4(INF2):c.1225T>A (p.Ser409Thr)
|
|
|
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu)
|
rs1486781241
|
|
NM_022489.4(INF2):c.1227G>A (p.Ser409=)
|
rs3809455
|
|
NM_022489.4(INF2):c.1228_1229insCCAGAGTGAG (p.Gln410fs)
|
rs2140667760
|
|
NM_022489.4(INF2):c.1237G>A (p.Ala413Thr)
|
|
|
NM_022489.4(INF2):c.1239C>T (p.Ala413=)
|
|
|
NM_022489.4(INF2):c.1243G>A (p.Glu415Lys)
|
|
|
NM_022489.4(INF2):c.1253C>T (p.Ala418Val)
|
|
|
NM_022489.4(INF2):c.1254G>C (p.Ala418=)
|
rs1370627984
|
|
NM_022489.4(INF2):c.1257C>T (p.Ser419=)
|
|
|
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del)
|
rs573567814
|
|
NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del)
|
rs573567814
|
|
NM_022489.4(INF2):c.1262CACCCC[6] (p.Pro428_Leu429insProProProPro)
|
|
|
NM_022489.4(INF2):c.1268C>A (p.Pro423Gln)
|
|
|
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu)
|
rs1263040681
|
|
NM_022489.4(INF2):c.1270C>G (p.Pro424Ala)
|
|
|
NM_022489.4(INF2):c.1275_1286del (p.Pro426_Leu429del)
|
|
|
NM_022489.4(INF2):c.1276C>A (p.Pro426Thr)
|
rs766635668
|
|
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu)
|
rs1889838927
|
|
NM_022489.4(INF2):c.1286del (p.Leu429fs)
|
|
|
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del)
|
rs1566781602
|
|
NM_022489.4(INF2):c.1298C>G (p.Ser433Cys)
|
rs2140668383
|
|
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp)
|
rs1566781633
|
|
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)
|
rs746697423
|
|
NM_022489.4(INF2):c.1314TCCCCC[1] (p.Pro444_Pro445del)
|
rs980563049
|
|
NM_022489.4(INF2):c.1314TCCCCC[3] (p.Pro445_Leu446insProPro)
|
|
|
NM_022489.4(INF2):c.1325C>T (p.Pro442Leu)
|
|
|
NM_022489.4(INF2):c.1332C>G (p.Pro444=)
|
|
|
NM_022489.4(INF2):c.1335C>G (p.Pro445=)
|
rs1306481005
|
|
NM_022489.4(INF2):c.1335C>T (p.Pro445=)
|
rs1306481005
|
|
NM_022489.4(INF2):c.1336dup (p.Leu446fs)
|
rs1278804782
|
|
NM_022489.4(INF2):c.1337T>C (p.Leu446Pro)
|
|
|
NM_022489.4(INF2):c.1341C>T (p.Pro447=)
|
|
|
NM_022489.4(INF2):c.1347G>A (p.Val449=)
|
|
|
NM_022489.4(INF2):c.1348G>A (p.Gly450Arg)
|
rs572969666
|
|
NM_022489.4(INF2):c.1348G>C (p.Gly450Arg)
|
rs572969666
|
|
NM_022489.4(INF2):c.134C>T (p.Pro45Leu)
|
|
|
NM_022489.4(INF2):c.1353T>C (p.Ala451=)
|
rs1889845267
|
|
NM_022489.4(INF2):c.1366A>G (p.Thr456Ala)
|
|
|
NM_022489.4(INF2):c.1376C>T (p.Pro459Leu)
|
|
|
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)
|
rs1443005224
|
|
NM_022489.4(INF2):c.1379C>G (p.Pro460Arg)
|
|
|
NM_022489.4(INF2):c.137C>T (p.Ser46Phe)
|
rs1889493279
|
|
NM_022489.4(INF2):c.1380C>G (p.Pro460=)
|
rs1889847537
|
|
NM_022489.4(INF2):c.1380C>T (p.Pro460=)
|
rs1889847537
|
|
NM_022489.4(INF2):c.1381C>T (p.Pro461Ser)
|
|
|
NM_022489.4(INF2):c.1382C>A (p.Pro461Gln)
|
|
|
NM_022489.4(INF2):c.1386C>T (p.Pro462=)
|
|
|
NM_022489.4(INF2):c.1389G>T (p.Leu463=)
|
rs1250341042
|
|
NM_022489.4(INF2):c.1391C>G (p.Pro464Arg)
|
|
|
NM_022489.4(INF2):c.1396_1446dup (p.Leu466_Gly482dup)
|
rs1566781794
|
|
NM_022489.4(INF2):c.1406T>C (p.Met469Thr)
|
rs1889849217
|
|
NM_022489.4(INF2):c.1411C>G (p.Pro471Ala)
|
|
|
NM_022489.4(INF2):c.1415del (p.Pro472fs)
|
rs2140669082
|
|
NM_022489.4(INF2):c.1419A>T (p.Ala473=)
|
rs1595171333
|
|
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del)
|
rs1325744353
|
|
NM_022489.4(INF2):c.1435C>A (p.Pro479Thr)
|
|
|
NM_022489.4(INF2):c.1440_1441delinsTT (p.Pro481Ser)
|
|
|
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu)
|
rs1438965620
|
|
NM_022489.4(INF2):c.1473T>A (p.Pro491=)
|
rs1595171430
|
|
NM_022489.4(INF2):c.1474C>T (p.Pro492Ser)
|
|
|
NM_022489.4(INF2):c.1476A>T (p.Pro492=)
|
rs1595171436
|
|
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)
|
rs1555373261
|
|
NM_022489.4(INF2):c.1493G>T (p.Gly498Val)
|
rs2140669360
|
|
NM_022489.4(INF2):c.14A>T (p.Glu5Val)
|
|
|
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter)
|
rs1555373267
|
|
NM_022489.4(INF2):c.1511C>A (p.Pro504Gln)
|
|
|
NM_022489.4(INF2):c.1512A>G (p.Pro504=)
|
rs774032439
|
|
NM_022489.4(INF2):c.1515C>G (p.Pro505=)
|
|
|
NM_022489.4(INF2):c.1517T>G (p.Leu506Arg)
|
rs1160363735
|
|
NM_022489.4(INF2):c.1518G>C (p.Leu506=)
|
rs1393144870
|
|
NM_022489.4(INF2):c.1524T>G (p.Pro508=)
|
|
|
NM_022489.4(INF2):c.1526G>A (p.Gly509Asp)
|
|
|
NM_022489.4(INF2):c.1528A>G (p.Met510Val)
|
|
|
NM_022489.4(INF2):c.1540C>A (p.Pro514Thr)
|
|
|
NM_022489.4(INF2):c.1542T>G (p.Pro514=)
|
|
|
NM_022489.4(INF2):c.1554A>G (p.Pro518=)
|
rs1192390422
|
|
NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)
|
|
|
NM_022489.4(INF2):c.1557T>C (p.Pro519=)
|
|
|
NM_022489.4(INF2):c.1567C>T (p.Pro523Ser)
|
|
|
NM_022489.4(INF2):c.1569C>T (p.Pro523=)
|
|
|
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser)
|
rs2140669651
|
|
NM_022489.4(INF2):c.1576T>A (p.Cys526Ser)
|
|
|
NM_022489.4(INF2):c.1579A>C (p.Ser527Arg)
|
|
|
NM_022489.4(INF2):c.1581C>T (p.Ser527=)
|
rs928182488
|
|
NM_022489.4(INF2):c.1582C>A (p.Pro528Thr)
|
rs181694819
|
|
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
|
rs181694819
|
|
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)
|
rs181694819
|
|
NM_022489.4(INF2):c.1585C>A (p.Pro529Thr)
|
rs1052608799
|
|
NM_022489.4(INF2):c.1587dup (p.Val530fs)
|
rs748929807
|
|
NM_022489.4(INF2):c.1594G>A (p.Gly532Arg)
|
|
|
NM_022489.4(INF2):c.1599C>T (p.Gly533=)
|
rs1889860666
|
|
NM_022489.4(INF2):c.1603G>C (p.Glu535Gln)
|
rs2140669798
|
|
NM_022489.4(INF2):c.1604AGG[1] (p.Glu536del)
|
|
|
NM_022489.4(INF2):c.1618G>A (p.Ala540Thr)
|
|
|
NM_022489.4(INF2):c.1624G>A (p.Val542Met)
|
rs1271026146
|
|
NM_022489.4(INF2):c.1625T>C (p.Val542Ala)
|
rs1467920811
|
|
NM_022489.4(INF2):c.1634G>T (p.Gly545Val)
|
|
|
NM_022489.4(INF2):c.1664G>A (p.Arg555Gln)
|
|
|
NM_022489.4(INF2):c.1674C>A (p.Asn558Lys)
|
|
|
NM_022489.4(INF2):c.1683A>G (p.Thr561=)
|
rs1595171811
|
|
NM_022489.4(INF2):c.1687C>T (p.Arg563Cys)
|
|
|
NM_022489.4(INF2):c.168C>A (p.Arg56=)
|
rs2140638425
|
|
NM_022489.4(INF2):c.1698G>A (p.Lys566=)
|
|
|
NM_022489.4(INF2):c.1699C>T (p.Leu567=)
|
rs2140670155
|
|
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
|
rs1595163736
|
|
NM_022489.4(INF2):c.1710G>C (p.Gln570His)
|
rs2140670180
|
|
NM_022489.4(INF2):c.1716G>C (p.Leu572=)
|
rs780141010
|
|
NM_022489.4(INF2):c.1733G>A (p.Arg578His)
|
|
|
NM_022489.4(INF2):c.1735+16C>T
|
|
|
NM_022489.4(INF2):c.1735+18C>A
|
|
|
NM_022489.4(INF2):c.1735+5G>A
|
|
|
NM_022489.4(INF2):c.1736-18C>G
|
rs199612826
|
|
NM_022489.4(INF2):c.1736-5G>A
|
|
|
NM_022489.4(INF2):c.1736-9_1736-7dup
|
rs2140671935
|
|
NM_022489.4(INF2):c.1736A>G (p.Glu579Gly)
|
rs2140671973
|
|
NM_022489.4(INF2):c.1746T>C (p.Ser582=)
|
|
|
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn)
|
rs369421697
|
|
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr)
|
rs530285485
|
|
NM_022489.4(INF2):c.1780G>C (p.Ala594Pro)
|
|
|
NM_022489.4(INF2):c.1794_1801dup (p.Ser601fs)
|
|
|
NM_022489.4(INF2):c.17G>T (p.Gly6Val)
|
|
|
NM_022489.4(INF2):c.1812A>T (p.Arg604=)
|
|
|
NM_022489.4(INF2):c.181G>C (p.Asp61His)
|
rs1410857502
|
|
NM_022489.4(INF2):c.1824C>G (p.Phe608Leu)
|
|
|
NM_022489.4(INF2):c.1833C>T (p.Ala611=)
|
rs2140672219
|
|
NM_022489.4(INF2):c.1849A>G (p.Thr617Ala)
|
rs2140672247
|
|
NM_022489.4(INF2):c.1852A>T (p.Met618Leu)
|
|
|
NM_022489.4(INF2):c.1859C>T (p.Ala620Val)
|
|
|
NM_022489.4(INF2):c.1860C>T (p.Ala620=)
|
|
|
NM_022489.4(INF2):c.1864C>T (p.Arg622Trp)
|
|
|
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
|
|
|
NM_022489.4(INF2):c.186C>T (p.Gly62=)
|
rs1555373276
|
|
NM_022489.4(INF2):c.1870A>T (p.Arg624Trp)
|
|
|
NM_022489.4(INF2):c.1879C>A (p.Pro627Thr)
|
|
|
NM_022489.4(INF2):c.1888-10G>T
|
|
|
NM_022489.4(INF2):c.1888-16G>A
|
|
|
NM_022489.4(INF2):c.1888-16G>T
|
|
|
NM_022489.4(INF2):c.1888-8T>G
|
rs889481678
|
|
NM_022489.4(INF2):c.1888-9G>A
|
|
|
NM_022489.4(INF2):c.188G>A (p.Gly63Asp)
|
rs990960028
|
|
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)
|
rs1889495846
|
|
NM_022489.4(INF2):c.1892C>T (p.Thr631Ile)
|
rs1595172697
|
|
NM_022489.4(INF2):c.1894T>C (p.Phe632Leu)
|
|
|
NM_022489.4(INF2):c.1900G>A (p.Asp634Asn)
|
|
|
NM_022489.4(INF2):c.1902T>A (p.Asp634Glu)
|
|
|
NM_022489.4(INF2):c.1905C>A (p.Ala635=)
|
|
|
NM_022489.4(INF2):c.1906A>C (p.Lys636Gln)
|
rs1889898227
|
|
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg)
|
rs761939643
|
|
NM_022489.4(INF2):c.1911G>A (p.Lys637=)
|
rs1595172720
|
|
NM_022489.4(INF2):c.1912A>T (p.Ser638Cys)
|
|
|
NM_022489.4(INF2):c.1913G>A (p.Ser638Asn)
|
|
|
NM_022489.4(INF2):c.1914C>G (p.Ser638Arg)
|
|
|
NM_022489.4(INF2):c.1921C>T (p.Leu641Phe)
|
|
|
NM_022489.4(INF2):c.1932C>G (p.Phe644Leu)
|
rs966287674
|
|
NM_022489.4(INF2):c.1935G>A (p.Leu645=)
|
|
|
NM_022489.4(INF2):c.1942T>G (p.Phe648Val)
|
|
|
NM_022489.4(INF2):c.1943T>A (p.Phe648Tyr)
|
|
|
NM_022489.4(INF2):c.1949+10G>A
|
rs1342614480
|
|
NM_022489.4(INF2):c.1949+1G>A
|
|
|
NM_022489.4(INF2):c.1949+7G>A
|
rs757853615
|
|
NM_022489.4(INF2):c.1950-10C>A
|
rs199987321
|
|
NM_022489.4(INF2):c.1950-11C>T
|
|
|
NM_022489.4(INF2):c.1950-13C>T
|
|
|
NM_022489.4(INF2):c.1950-15C>T
|
|
|
NM_022489.4(INF2):c.1950-19G>A
|
|
|
NM_022489.4(INF2):c.1950-20C>G
|
|
|
NM_022489.4(INF2):c.1950-20C>T
|
rs370726873
|
|
NM_022489.4(INF2):c.1950-4C>G
|
rs539363877
|
|
NM_022489.4(INF2):c.1950-4C>T
|
rs539363877
|
|
NM_022489.4(INF2):c.1953C>T (p.Ser651=)
|
|
|
NM_022489.4(INF2):c.1958A>G (p.Glu653Gly)
|
rs2140675983
|
|
NM_022489.4(INF2):c.1967C>G (p.Ala656Gly)
|
|
|
NM_022489.4(INF2):c.2008G>T (p.Glu670Ter)
|
|
|
NM_022489.4(INF2):c.200A>G (p.Gln67Arg)
|
|
|
NM_022489.4(INF2):c.2010G>A (p.Glu670=)
|
rs1271047216
|
|
NM_022489.4(INF2):c.2023C>G (p.Leu675Val)
|
|
|
NM_022489.4(INF2):c.2023C>T (p.Leu675Phe)
|
|
|
NM_022489.4(INF2):c.2050G>A (p.Glu684Lys)
|
|
|
NM_022489.4(INF2):c.2052+12A>G
|
rs1342540362
|
|
NM_022489.4(INF2):c.2052+16C>T
|
|
|
NM_022489.4(INF2):c.2052+17del
|
|
|
NM_022489.4(INF2):c.2052+19C>T
|
|
|
NM_022489.4(INF2):c.2052+3A>G
|
rs1382855956
|
|
NM_022489.4(INF2):c.2053-17C>T
|
|
|
NM_022489.4(INF2):c.2053-19G>A
|
rs2140677593
|
|
NM_022489.4(INF2):c.2053-4G>T
|
|
|
NM_022489.4(INF2):c.205C>T (p.Leu69=)
|
|
|
NM_022489.4(INF2):c.2065C>A (p.Arg689=)
|
rs781255309
|
|
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
|
|
|
NM_022489.4(INF2):c.2066G>A (p.Arg689Gln)
|
|
|
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly)
|
rs769120676
|
|
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
|
|
|
NM_022489.4(INF2):c.2093T>C (p.Leu698Pro)
|
rs1889952154
|
|
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
|
rs377281840
|
|
NM_022489.4(INF2):c.2100C>T (p.Ser700=)
|
rs377281840
|
|
NM_022489.4(INF2):c.2104G>A (p.Asp702Asn)
|
|
|
NM_022489.4(INF2):c.210_224dup (p.Glu70_Leu74dup)
|
rs1889497296
|
|
NM_022489.4(INF2):c.2118C>T (p.Leu706=)
|
rs1595173916
|
|
NM_022489.4(INF2):c.2122C>A (p.Leu708Met)
|
|
|
NM_022489.4(INF2):c.2128G>A (p.Ala710Thr)
|
rs373806518
|
|
NM_022489.4(INF2):c.2138+10dup
|
rs1301032347
|
|
NM_022489.4(INF2):c.2138+4A>G
|
|
|
NM_022489.4(INF2):c.2139-12T>G
|
rs2140679527
|
|
NM_022489.4(INF2):c.2139-4C>T
|
rs1595174339
|
|
NM_022489.4(INF2):c.2145G>A (p.Gln715=)
|
rs1228218526
|
|
NM_022489.4(INF2):c.2146C>T (p.Leu716=)
|
rs1889974020
|
|
NM_022489.4(INF2):c.2174A>C (p.Glu725Ala)
|
rs1889975115
|
|
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)
|
|
|
NM_022489.4(INF2):c.218G>T (p.Gly73Val)
|
rs918089359
|
|
NM_022489.4(INF2):c.2197A>T (p.Met733Leu)
|
|
|
NM_022489.4(INF2):c.219C>T (p.Gly73=)
|
rs2140638628
|
|
NM_022489.4(INF2):c.2203C>T (p.Arg735Trp)
|
|
|
NM_022489.4(INF2):c.2206C>T (p.Pro736Ser)
|
|
|
NM_022489.4(INF2):c.220C>G (p.Leu74Val)
|
|
|
NM_022489.4(INF2):c.221T>G (p.Leu74Arg)
|
rs1566777566
|
|
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg)
|
rs1595174468
|
|
NM_022489.4(INF2):c.2226G>A (p.Leu742=)
|
|
|
NM_022489.4(INF2):c.2238A>C (p.Glu746Asp)
|
|
|
NM_022489.4(INF2):c.2239+20G>T
|
|
|
NM_022489.4(INF2):c.2240-11T>C
|
rs2140682757
|
|
NM_022489.4(INF2):c.2240-16C>T
|
|
|
NM_022489.4(INF2):c.2240-19G>A
|
|
|
NM_022489.4(INF2):c.2240-7C>T
|
rs374969245
|
|
NM_022489.4(INF2):c.2240-8C>T
|
rs1216523445
|
|
NM_022489.4(INF2):c.2247C>T (p.Leu749=)
|
rs2140682785
|
|
NM_022489.4(INF2):c.2253C>T (p.Ser751=)
|
rs2140682802
|
|
NM_022489.4(INF2):c.2264C>G (p.Pro755Arg)
|
|
|
NM_022489.4(INF2):c.2268C>T (p.Ile756=)
|
|
|
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
|
rs1889499325
|
|
NM_022489.4(INF2):c.2277G>A (p.Gln759=)
|
rs1198982780
|
|
NM_022489.4(INF2):c.2288G>A (p.Arg763Lys)
|
|
|
NM_022489.4(INF2):c.228G>C (p.Leu76=)
|
|
|
NM_022489.4(INF2):c.2295G>A (p.Gly765=)
|
rs2140682892
|
|
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
|
rs1595163851
|
|
NM_022489.4(INF2):c.2310+12del
|
rs752651194
|
|
NM_022489.4(INF2):c.2310+7del
|
rs759540621
|
|
NM_022489.4(INF2):c.2311-13C>G
|
|
|
NM_022489.4(INF2):c.2311-3del
|
|
|
NM_022489.4(INF2):c.2311-9C>A
|
rs1890025610
|
|
NM_022489.4(INF2):c.2325T>C (p.Gly775=)
|
rs1595175625
|
|
NM_022489.4(INF2):c.2331C>T (p.Ala777=)
|
|
|
NM_022489.4(INF2):c.2332G>A (p.Asp778Asn)
|
|
|
NM_022489.4(INF2):c.2334C>T (p.Asp778=)
|
|
|
NM_022489.4(INF2):c.233T>A (p.Leu78Gln)
|
rs1889500121
|
|
NM_022489.4(INF2):c.2349C>T (p.Ser783=)
|
|
|
NM_022489.4(INF2):c.2355G>A (p.Leu785=)
|
|
|
NM_022489.4(INF2):c.2391C>T (p.Arg797=)
|
|
|
NM_022489.4(INF2):c.2392G>A (p.Val798Met)
|
rs752048486
|
|
NM_022489.4(INF2):c.2397G>A (p.Thr799=)
|
|
|
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg)
|
rs1890029024
|
|
NM_022489.4(INF2):c.2418+16G>C
|
|
|
NM_022489.4(INF2):c.2418+16G>T
|
rs773186603
|
|
NM_022489.4(INF2):c.2418+17G>A
|
|
|
NM_022489.4(INF2):c.2418+19G>C
|
rs770701500
|
|
NM_022489.4(INF2):c.2418+20G>T
|
rs1470076316
|
|
NM_022489.4(INF2):c.2418+7C>T
|
|
|
NM_022489.4(INF2):c.2418+9T>C
|
|
|
NM_022489.4(INF2):c.2419-12G>A
|
|
|
NM_022489.4(INF2):c.2419-12G>T
|
rs369283834
|
|
NM_022489.4(INF2):c.2419-19T>A
|
rs1890051019
|
|
NM_022489.4(INF2):c.2419-5T>C
|
|
|
NM_022489.4(INF2):c.2436C>G (p.His812Gln)
|
|
|
NM_022489.4(INF2):c.2439C>T (p.Pro813=)
|
rs543495305
|
|
NM_022489.4(INF2):c.2469A>G (p.Glu823=)
|
rs2140685910
|
|
NM_022489.4(INF2):c.246G>A (p.Ala82=)
|
rs377173164
|
|
NM_022489.4(INF2):c.2489+16C>T
|
|
|
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
|
rs377340315
|
|
NM_022489.4(INF2):c.2490-13C>G
|
|
|
NM_022489.4(INF2):c.2490-17C>T
|
|
|
NM_022489.4(INF2):c.2490-18G>A
|
|
|
NM_022489.4(INF2):c.2490-8C>T
|
rs977001355
|
|
NM_022489.4(INF2):c.2507T>C (p.Ile836Thr)
|
rs767351070
|
|
NM_022489.4(INF2):c.2511C>T (p.Arg837=)
|
rs1595177417
|
|
NM_022489.4(INF2):c.2517G>A (p.Glu839=)
|
rs561061092
|
|
NM_022489.4(INF2):c.251T>C (p.Leu84Pro)
|
rs1889501966
|
|
NM_022489.4(INF2):c.2523C>A (p.Ser841Arg)
|
|
|
NM_022489.4(INF2):c.2523C>T (p.Ser841=)
|
rs1890100793
|
|
NM_022489.4(INF2):c.2524T>C (p.Ser842Pro)
|
|
|
NM_022489.4(INF2):c.2530C>T (p.Leu844=)
|
|
|
NM_022489.4(INF2):c.2533A>C (p.Lys845Gln)
|
|
|
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn)
|
rs1890101375
|
|
NM_022489.4(INF2):c.2541T>G (p.Leu847=)
|
|
|
NM_022489.4(INF2):c.2554C>T (p.Arg852Trp)
|
|
|
NM_022489.4(INF2):c.255G>A (p.Ser85=)
|
rs369037445
|
|
NM_022489.4(INF2):c.255G>C (p.Ser85=)
|
rs369037445
|
|
NM_022489.4(INF2):c.2571C>G (p.Ser857=)
|
rs62640005
|
|
NM_022489.4(INF2):c.2574G>A (p.Val858=)
|
rs371768502
|
|
NM_022489.4(INF2):c.257G>T (p.Gly86Val)
|
rs1566777637
|
|
NM_022489.4(INF2):c.2589G>A (p.Glu863=)
|
rs1595177530
|
|
NM_022489.4(INF2):c.258C>T (p.Gly86=)
|
|
|
NM_022489.4(INF2):c.2598C>G (p.Thr866=)
|
rs552110857
|
|
NM_022489.4(INF2):c.2599G>C (p.Glu867Gln)
|
rs777850657
|
|
NM_022489.4(INF2):c.2610+15G>A
|
rs746323324
|
|
NM_022489.4(INF2):c.2611-16G>A
|
|
|
NM_022489.4(INF2):c.2611-3_2766delinsA
|
rs1890116449
|
|
NM_022489.4(INF2):c.2613C>G (p.Ala871=)
|
rs2140692107
|
|
NM_022489.4(INF2):c.261_262dup (p.Gly88fs)
|
|
|
NM_022489.4(INF2):c.2621C>T (p.Ser874Leu)
|
|
|
NM_022489.4(INF2):c.2625C>G (p.Ala875=)
|
rs377398103
|
|
NM_022489.4(INF2):c.2625C>T (p.Ala875=)
|
|
|
NM_022489.4(INF2):c.262G>A (p.Gly88Ser)
|
rs766891612
|
|
NM_022489.4(INF2):c.262G>T (p.Gly88Cys)
|
rs766891612
|
|
NM_022489.4(INF2):c.2646G>A (p.Leu882=)
|
rs1890118187
|
|
NM_022489.4(INF2):c.264C>G (p.Gly88=)
|
|
|
NM_022489.4(INF2):c.265G>A (p.Val89Ile)
|
rs765566674
|
|
NM_022489.4(INF2):c.2664G>T (p.Gln888His)
|
|
|
NM_022489.4(INF2):c.2673G>C (p.Arg891=)
|
rs938468023
|
|
NM_022489.4(INF2):c.2682C>A (p.Ala894=)
|
|
|
NM_022489.4(INF2):c.2684A>G (p.Asp895Gly)
|
rs1890119751
|
|
NM_022489.4(INF2):c.2691G>C (p.Leu897=)
|
|
|
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)
|
rs1890119995
|
|
NM_022489.4(INF2):c.26G>C (p.Arg9Pro)
|
|
|
NM_022489.4(INF2):c.26G>T (p.Arg9Leu)
|
|
|
NM_022489.4(INF2):c.2709G>C (p.Gln903His)
|
rs762803590
|
|
NM_022489.4(INF2):c.270A>T (p.Ala90=)
|
|
|
NM_022489.4(INF2):c.2714C>T (p.Ser905Phe)
|
|
|
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
|
rs200247054
|
|
NM_022489.4(INF2):c.271C>T (p.Arg91Cys)
|
rs200247054
|
|
NM_022489.4(INF2):c.2726C>T (p.Thr909Met)
|
rs201336550
|
|
NM_022489.4(INF2):c.272G>T (p.Arg91Leu)
|
|
|
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp)
|
rs778308700
|
|
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
|
|
|
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs)
|
rs1566785235
|
|
NM_022489.4(INF2):c.2768C>T (p.Ala923Val)
|
|
|
NM_022489.4(INF2):c.2775+11C>G
|
|
|
NM_022489.4(INF2):c.2775+6G>A
|
rs2140693103
|
|
NM_022489.4(INF2):c.2776-15C>T
|
|
|
NM_022489.4(INF2):c.2776-20G>A
|
rs763178910
|
|
NM_022489.4(INF2):c.2776-6G>A
|
|
|
NM_022489.4(INF2):c.2778G>C (p.Glu926Asp)
|
|
|
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly)
|
rs764687744
|
|
NM_022489.4(INF2):c.2788C>T (p.Arg930Trp)
|
|
|
NM_022489.4(INF2):c.2789G>T (p.Arg930Leu)
|
|
|
NM_022489.4(INF2):c.2805G>A (p.Ala935=)
|
|
|
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys)
|
rs1595178511
|
|
NM_022489.4(INF2):c.281A>G (p.Asp94Gly)
|
rs1889506126
|
|
NM_022489.4(INF2):c.283G>A (p.Ala95Thr)
|
|
|
NM_022489.4(INF2):c.2845G>A (p.Ala949Thr)
|
rs2140695225
|
|
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly)
|
rs912951002
|
|
NM_022489.4(INF2):c.2846C>T (p.Ala949Val)
|
rs912951002
|
|
NM_022489.4(INF2):c.2851C>T (p.Arg951Trp)
|
|
|
NM_022489.4(INF2):c.2855C>T (p.Pro952Leu)
|
|
|
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln)
|
rs1385146569
|
|
NM_022489.4(INF2):c.2858G>C (p.Arg953Pro)
|
|
|
NM_022489.4(INF2):c.285C>T (p.Ala95=)
|
|
|
NM_022489.4(INF2):c.2868C>G (p.Asp956Glu)
|
rs748088770
|
|
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser)
|
rs369417066
|
|
NM_022489.4(INF2):c.2877T>C (p.Pro959=)
|
rs1890143462
|
|
NM_022489.4(INF2):c.2878+13C>T
|
|
|
NM_022489.4(INF2):c.2878+14G>A
|
|
|
NM_022489.4(INF2):c.2878+19_2878+48dup
|
|
|
NM_022489.4(INF2):c.2879-8C>T
|
|
|
NM_022489.4(INF2):c.2888G>A (p.Gly963Glu)
|
|
|
NM_022489.4(INF2):c.2893G>T (p.Gly965Trp)
|
rs370783381
|
|
NM_022489.4(INF2):c.2900AGG[2] (p.Glu969del)
|
|
|
NM_022489.4(INF2):c.2901G>A (p.Gln967=)
|
|
|
NM_022489.4(INF2):c.2904G>A (p.Glu968=)
|
rs766775939
|
|
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys)
|
rs1890151516
|
|
NM_022489.4(INF2):c.2906A>T (p.Glu969Val)
|
|
|
NM_022489.4(INF2):c.290T>G (p.Leu97Arg)
|
|
|
NM_022489.4(INF2):c.2910G>A (p.Val970=)
|
|
|
NM_022489.4(INF2):c.2919C>T (p.Ile973=)
|
|
|
NM_022489.4(INF2):c.291G>T (p.Leu97=)
|
rs1334953478
|
|
NM_022489.4(INF2):c.2922T>C (p.Asp974=)
|
|
|
NM_022489.4(INF2):c.2938A>G (p.Ile980Val)
|
|
|
NM_022489.4(INF2):c.2942G>C (p.Arg981Thr)
|
|
|
NM_022489.4(INF2):c.2944A>G (p.Lys982Glu)
|
|
|
NM_022489.4(INF2):c.2959C>T (p.Arg987Trp)
|
rs777407891
|
|
NM_022489.4(INF2):c.2973G>A (p.Arg991=)
|
rs1890153381
|
|
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly)
|
rs935688609
|
|
NM_022489.4(INF2):c.2977C>T (p.Arg993Cys)
|
|
|
NM_022489.4(INF2):c.2978G>A (p.Arg993His)
|
|
|
NM_022489.4(INF2):c.2980G>A (p.Gly994Arg)
|
|
|
NM_022489.4(INF2):c.2982G>A (p.Gly994=)
|
rs2140696493
|
|
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly)
|
rs748234626
|
|
NM_022489.4(INF2):c.2994_2996del (p.Gly999del)
|
|
|
NM_022489.4(INF2):c.2996dup (p.Ser1000fs)
|
rs1566785725
|
|
NM_022489.4(INF2):c.3001A>G (p.Lys1001Glu)
|
|
|
NM_022489.4(INF2):c.300C>T (p.Thr100=)
|
rs755925568
|
|
NM_022489.4(INF2):c.3036G>A (p.Glu1012=)
|
|
|
NM_022489.4(INF2):c.303C>T (p.Cys101=)
|
|
|
NM_022489.4(INF2):c.3040+18_3040+23dup
|
|
|
NM_022489.4(INF2):c.3040+19G>A
|
|
|
NM_022489.4(INF2):c.3040+19G>T
|
|
|
NM_022489.4(INF2):c.3040+7C>A
|
rs370947072
|
|
NM_022489.4(INF2):c.3040+7C>T
|
|
|
NM_022489.4(INF2):c.3041-15T>C
|
|
|
NM_022489.4(INF2):c.3041-7C>T
|
rs1283161160
|
|
NM_022489.4(INF2):c.304G>C (p.Val102Leu)
|
|
|
NM_022489.4(INF2):c.3059C>A (p.Ala1020Glu)
|
rs368372551
|
|
NM_022489.4(INF2):c.306C>G (p.Val102=)
|
rs748335660
|
|
NM_022489.4(INF2):c.3080C>G (p.Thr1027Arg)
|
|
|
NM_022489.4(INF2):c.3081G>A (p.Thr1027=)
|
|
|
NM_022489.4(INF2):c.308G>C (p.Ser103Thr)
|
|
|
NM_022489.4(INF2):c.3091G>A (p.Ala1031Thr)
|
|
|
NM_022489.4(INF2):c.3091G>C (p.Ala1031Pro)
|
rs1050761365
|
|
NM_022489.4(INF2):c.3093C>T (p.Ala1031=)
|
|
|
NM_022489.4(INF2):c.3103G>C (p.Gly1035Arg)
|
rs368995122
|
|
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)
|
rs387907034
|
|
NM_022489.4(INF2):c.3119C>A (p.Thr1040Lys)
|
|
|
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly)
|
rs770095888
|
|
NM_022489.4(INF2):c.312C>G (p.Cys104Trp)
|
rs387907036
|
|
NM_022489.4(INF2):c.3138C>T (p.Gly1046=)
|
|
|
NM_022489.4(INF2):c.3145C>A (p.Leu1049Ile)
|
|
|
NM_022489.4(INF2):c.314T>A (p.Val105Glu)
|
rs1555373363
|
|
NM_022489.4(INF2):c.3153C>A (p.Asp1051Glu)
|
rs117457867
|
|
NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)
|
|
|
NM_022489.4(INF2):c.3156C>T (p.Ala1052=)
|
|
|
NM_022489.4(INF2):c.3159G>C (p.Val1053=)
|
|
|
NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)
|
|
|
NM_022489.4(INF2):c.3174G>C (p.Gln1058His)
|
|
|
NM_022489.4(INF2):c.3179C>T (p.Thr1060Ile)
|
|
|
NM_022489.4(INF2):c.318C>T (p.Arg106=)
|
|
|
NM_022489.4(INF2):c.3195G>A (p.Glu1065=)
|
rs1890194293
|
|
NM_022489.4(INF2):c.3198G>A (p.Glu1066=)
|
|
|
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser)
|
rs1209329545
|
|
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
|
|
|
NM_022489.4(INF2):c.3207A>C (p.Pro1069=)
|
rs1128840
|
|
NM_022489.4(INF2):c.3207A>G (p.Pro1069=)
|
rs1128840
|
|
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp)
|
rs1890195225
|
|
NM_022489.4(INF2):c.320_322del (p.Ala107del)
|
rs1889509458
|
|
NM_022489.4(INF2):c.3214C>T (p.Leu1072=)
|
|
|
NM_022489.4(INF2):c.3219G>A (p.Glu1073=)
|
rs2140700368
|
|
NM_022489.4(INF2):c.3228T>C (p.Ser1076=)
|
|
|
NM_022489.4(INF2):c.322del (p.Val108fs)
|
rs2140639383
|
|
NM_022489.4(INF2):c.3236A>G (p.Tyr1079Cys)
|
|
|
NM_022489.4(INF2):c.3241G>C (p.Asp1081His)
|
rs571986941
|
|
NM_022489.4(INF2):c.3241G>T (p.Asp1081Tyr)
|
|
|
NM_022489.4(INF2):c.3249C>T (p.Ser1083=)
|
|
|
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)
|
rs368869709
|
|
NM_022489.4(INF2):c.325A>T (p.Met109Leu)
|
rs1889510098
|
|
NM_022489.4(INF2):c.3261C>A (p.Thr1087=)
|
|
|
NM_022489.4(INF2):c.3269A>C (p.Asp1090Ala)
|
|
|
NM_022489.4(INF2):c.3271C>T (p.Pro1091Ser)
|
|
|
NM_022489.4(INF2):c.3300C>G (p.Ala1100=)
|
rs755319597
|
|
NM_022489.4(INF2):c.3306G>A (p.Pro1102=)
|
|
|
NM_022489.4(INF2):c.3324T>A (p.Ala1108=)
|
|
|
NM_022489.4(INF2):c.3325C>T (p.Gln1109Ter)
|
|
|
NM_022489.4(INF2):c.3329C>A (p.Ala1110Asp)
|
rs2140700719
|
|
NM_022489.4(INF2):c.332C>T (p.Ser111Leu)
|
|
|
NM_022489.4(INF2):c.333G>A (p.Ser111=)
|
|
|
NM_022489.4(INF2):c.3340C>G (p.Leu1114Val)
|
|
|
NM_022489.4(INF2):c.3354C>T (p.Ser1118=)
|
|
|
NM_022489.4(INF2):c.3356A>G (p.Asn1119Ser)
|
|
|
NM_022489.4(INF2):c.3361C>T (p.Pro1121Ser)
|
rs1248997686
|
|
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu)
|
rs1422015907
|
|
NM_022489.4(INF2):c.3374G>C (p.Gly1125Ala)
|
|
|
NM_022489.4(INF2):c.3384G>C (p.Arg1128Ser)
|
|
|
NM_022489.4(INF2):c.338A>G (p.Gln113Arg)
|
rs1889511010
|
|
NM_022489.4(INF2):c.338A>T (p.Gln113Leu)
|
|
|
NM_022489.4(INF2):c.3402C>G (p.Pro1134=)
|
|
|
NM_022489.4(INF2):c.3414G>T (p.Leu1138=)
|
|
|
NM_022489.4(INF2):c.3417C>T (p.Gly1139=)
|
rs753095805
|
|
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
|
rs1595164091
|
|
NM_022489.4(INF2):c.3423C>G (p.Leu1141=)
|
rs1445826828
|
|
NM_022489.4(INF2):c.3429C>T (p.Ala1143=)
|
|
|
NM_022489.4(INF2):c.3439A>C (p.Ser1147Arg)
|
|
|
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly)
|
rs1890205376
|
|
NM_022489.4(INF2):c.344T>G (p.Ile115Ser)
|
rs2140639483
|
|
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala)
|
rs1166494154
|
|
NM_022489.4(INF2):c.346G>A (p.Glu116Lys)
|
|
|
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly)
|
rs1890207111
|
|
NM_022489.4(INF2):c.3474C>T (p.Ser1158=)
|
rs1555375620
|
|
NM_022489.4(INF2):c.3488C>A (p.Pro1163His)
|
|
|
NM_022489.4(INF2):c.3489C>T (p.Pro1163=)
|
|
|
NM_022489.4(INF2):c.34G>A (p.Ala12Thr)
|
rs201814557
|
|
NM_022489.4(INF2):c.3501C>T (p.Gly1167=)
|
|
|
NM_022489.4(INF2):c.3511G>T (p.Asp1171Tyr)
|
|
|
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
rs767075044
|
|
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2])
|
rs748373029
|
|
NM_022489.4(INF2):c.3536C>T (p.Thr1179Met)
|
|
|
NM_022489.4(INF2):c.3538G>T (p.Ala1180Ser)
|
rs1890210294
|
|
NM_022489.4(INF2):c.3540C>A (p.Ala1180=)
|
rs1890210440
|
|
NM_022489.4(INF2):c.3546G>A (p.Glu1182=)
|
rs1890210806
|
|
NM_022489.4(INF2):c.3549C>T (p.Ser1183=)
|
rs1890210863
|
|
NM_022489.4(INF2):c.3553C>T (p.Leu1185=)
|
|
|
NM_022489.4(INF2):c.3555G>A (p.Leu1185=)
|
|
|
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys)
|
rs201715539
|
|
NM_022489.4(INF2):c.3568G>A (p.Asp1190Asn)
|
|
|
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu)
|
rs1555375657
|
|
NM_022489.4(INF2):c.3583G>C (p.Glu1195Gln)
|
rs1064796974
|
|
NM_022489.4(INF2):c.3585G>A (p.Glu1195=)
|
rs569502255
|
|
NM_022489.4(INF2):c.3591G>C (p.Ala1197=)
|
|
|
NM_022489.4(INF2):c.3591G>T (p.Ala1197=)
|
rs765090867
|
|
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
|
rs764338863
|
|
NM_022489.4(INF2):c.3598G>C (p.Asp1200His)
|
rs764338863
|
|
NM_022489.4(INF2):c.3603C>T (p.Ser1201=)
|
rs2140701770
|
|
NM_022489.4(INF2):c.3604T>C (p.Ser1202Pro)
|
rs1890213193
|
|
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp)
|
rs956685612
|
|
NM_022489.4(INF2):c.3618A>G (p.Thr1206=)
|
|
|
NM_022489.4(INF2):c.3618A>T (p.Thr1206=)
|
rs748717940
|
|
NM_022489.4(INF2):c.3623C>T (p.Pro1208Leu)
|
|
|
NM_022489.4(INF2):c.3632G>A (p.Arg1211Gln)
|
rs754263906
|
|
NM_022489.4(INF2):c.3632G>T (p.Arg1211Leu)
|
rs754263906
|
|
NM_022489.4(INF2):c.3633G>A (p.Arg1211=)
|
rs1293384292
|
|
NM_022489.4(INF2):c.3636C>T (p.Gly1212=)
|
|
|
NM_022489.4(INF2):c.363C>T (p.Asn121=)
|
rs1174416960
|
|
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)
|
rs762985148
|
|
NM_022489.4(INF2):c.3648G>A (p.Lys1216=)
|
rs139196357
|
|
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn)
|
rs139196357
|
|
NM_022489.4(INF2):c.364C>G (p.Gln122Glu)
|
rs1428719320
|
|
NM_022489.4(INF2):c.3654C>G (p.Thr1218=)
|
rs557462297
|
|
NM_022489.4(INF2):c.365A>G (p.Gln122Arg)
|
|
|
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln)
|
rs754128326
|
|
NM_022489.4(INF2):c.3665G>A (p.Arg1222Lys)
|
|
|
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
|
|
|
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)
|
rs779017318
|
|
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
|
|
|
NM_022489.4(INF2):c.3694+12_3694+15del
|
rs766461452
|
|
NM_022489.4(INF2):c.3694+18C>T
|
rs1311828298
|
|
NM_022489.4(INF2):c.3694+5C>T
|
rs1890217788
|
|
NM_022489.4(INF2):c.3694+8A>C
|
rs1595180626
|
|
NM_022489.4(INF2):c.3694+8_3694+9del
|
|
|
NM_022489.4(INF2):c.3695-10T>C
|
|
|
NM_022489.4(INF2):c.3695-18T>G
|
|
|
NM_022489.4(INF2):c.3695-4G>C
|
rs757575999
|
|
NM_022489.4(INF2):c.3698T>A (p.Val1233Asp)
|
|
|
NM_022489.4(INF2):c.369del (p.Tyr124fs)
|
|
|
NM_022489.4(INF2):c.3700C>T (p.Pro1234Ser)
|
rs2140703863
|
|
NM_022489.4(INF2):c.3709T>A (p.Ser1237Thr)
|
|
|
NM_022489.4(INF2):c.3709del (p.Ser1237fs)
|
|
|
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del)
|
rs1236644699
|
|
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu)
|
rs775075672
|
|
NM_022489.4(INF2):c.3715G>A (p.Asp1239Asn)
|
|
|
NM_022489.4(INF2):c.3717T>A (p.Asp1239Glu)
|
|
|
NM_022489.4(INF2):c.3717T>C (p.Asp1239=)
|
rs748770666
|
|
NM_022489.4(INF2):c.3722A>G (p.Lys1241Arg)
|
|
|
NM_022489.4(INF2):c.3725_3728del (p.Thr1242fs)
|
rs1349764218
|
|
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs)
|
rs1566787039
|
|
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu)
|
rs1323987101
|
|
NM_022489.4(INF2):c.3731A>G (p.Lys1244Arg)
|
|
|
NM_022489.4(INF2):c.373G>A (p.Val125Met)
|
rs762621935
|
|
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)
|
rs753327806
|
|
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu)
|
rs1890248105
|
|
NM_022489.4(INF2):c.3750A>C (p.Ter1250Tyr)
|
|
|
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)
|
rs387907037
|
|
NM_022489.4(INF2):c.384C>T (p.Leu128=)
|
rs536296013
|
|
NM_022489.4(INF2):c.391+6C>A
|
|
|
NM_022489.4(INF2):c.391+6C>T
|
rs75115369
|
|
NM_022489.4(INF2):c.391+7C>G
|
|
|
NM_022489.4(INF2):c.391+7C>T
|
|
|
NM_022489.4(INF2):c.391+8G>A
|
|
|
NM_022489.4(INF2):c.391+8G>T
|
|
|
NM_022489.4(INF2):c.392-13_392-9dup
|
rs775575983
|
|
NM_022489.4(INF2):c.392-17C>A
|
|
|
NM_022489.4(INF2):c.392-17C>G
|
|
|
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
|
rs387907038
|
|
NM_022489.4(INF2):c.397G>A (p.Asp133Asn)
|
rs774135330
|
|
NM_022489.4(INF2):c.427G>A (p.Val143Met)
|
rs1237835000
|
|
NM_022489.4(INF2):c.439C>T (p.Leu147=)
|
|
|
NM_022489.4(INF2):c.440T>C (p.Leu147Pro)
|
rs1555373588
|
|
NM_022489.4(INF2):c.446C>T (p.Ala149Val)
|
|
|
NM_022489.4(INF2):c.456C>G (p.Ile152Met)
|
|
|
NM_022489.4(INF2):c.465C>T (p.Pro155=)
|
|
|
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
|
|
|
NM_022489.4(INF2):c.470G>A (p.Gly157Asp)
|
rs2140647207
|
|
NM_022489.4(INF2):c.475G>T (p.Val159Leu)
|
rs781188543
|
|
NM_022489.4(INF2):c.483C>T (p.Thr161=)
|
|
|
NM_022489.4(INF2):c.490G>A (p.Ala164Thr)
|
|
|
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)
|
rs1555373599
|
|
NM_022489.4(INF2):c.507+14C>A
|
|
|
NM_022489.4(INF2):c.507+18G>C
|
rs1244682335
|
|
NM_022489.4(INF2):c.507+3G>T
|
|
|
NM_022489.4(INF2):c.507+4G>T
|
|
|
NM_022489.4(INF2):c.508-13G>C
|
|
|
NM_022489.4(INF2):c.508-16C>A
|
rs1889614072
|
|
NM_022489.4(INF2):c.508-17C>G
|
|
|
NM_022489.4(INF2):c.508-5C>A
|
|
|
NM_022489.4(INF2):c.51G>A (p.Lys17=)
|
|
|
NM_022489.4(INF2):c.54G>A (p.Leu18=)
|
|
|
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)
|
rs1566778676
|
|
NM_022489.4(INF2):c.554T>C (p.Leu185Pro)
|
rs1555373625
|
|
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
|
rs753287786
|
|
NM_022489.4(INF2):c.583G>A (p.Val195Ile)
|
rs1595166165
|
|
NM_022489.4(INF2):c.583G>T (p.Val195Phe)
|
rs1595166165
|
|
NM_022489.4(INF2):c.595A>C (p.Ser199Arg)
|
|
|
NM_022489.4(INF2):c.619G>T (p.Gly207Cys)
|
|
|
NM_022489.4(INF2):c.621C>T (p.Gly207=)
|
|
|
NM_022489.4(INF2):c.622C>G (p.Pro208Ala)
|
|
|
NM_022489.4(INF2):c.623C>A (p.Pro208His)
|
|
|
NM_022489.4(INF2):c.624C>G (p.Pro208=)
|
rs750610272
|
|
NM_022489.4(INF2):c.625G>A (p.Glu209Lys)
|
rs1012899025
|
|
NM_022489.4(INF2):c.630C>T (p.Asp210=)
|
|
|
NM_022489.4(INF2):c.637G>A (p.Ala213Thr)
|
|
|
NM_022489.4(INF2):c.637G>C (p.Ala213Pro)
|
rs778267218
|
|
NM_022489.4(INF2):c.638C>A (p.Ala213Glu)
|
|
|
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
|
rs912928648
|
|
NM_022489.4(INF2):c.644C>T (p.Thr215Ile)
|
|
|
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)
|
rs267606878
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_022489.4(INF2):c.657C>T (p.Asn219=)
|
rs2140648862
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
NM_022489.4(INF2):c.663T>C (p.Phe221=)
|
|
|
NM_022489.4(INF2):c.664A>G (p.Ile222Val)
|
rs1889626323
|
|
NM_022489.4(INF2):c.664_666dup (p.Ile222dup)
|
rs1889626434
|
|
NM_022489.4(INF2):c.667+15T>G
|
|
|
NM_022489.4(INF2):c.667+17G>T
|
|
|
NM_022489.4(INF2):c.667+20C>A
|
|
|
NM_022489.4(INF2):c.667+20C>T
|
rs182087942
|
|
NM_022489.4(INF2):c.667+5G>A
|
rs2140648957
|
|
NM_022489.4(INF2):c.668-14C>T
|
rs1399790112
|
|
NM_022489.4(INF2):c.668-19C>G
|
|
|
NM_022489.4(INF2):c.668-4C>T
|
rs1595167027
|
|
NM_022489.4(INF2):c.668-9C>G
|
rs1889656184
|
|
NM_022489.4(INF2):c.66T>C (p.Asp22=)
|
|
|
NM_022489.4(INF2):c.679C>T (p.Leu227=)
|
|
|
NM_022489.4(INF2):c.67T>G (p.Ser23Ala)
|
rs746964937
|
|
NM_022489.4(INF2):c.685G>A (p.Val229Ile)
|
rs752058170
|
|
NM_022489.4(INF2):c.693T>C (p.Ala231=)
|
rs909373112
|
|
NM_022489.4(INF2):c.699G>A (p.Leu233=)
|
|
|
NM_022489.4(INF2):c.69G>A (p.Ser23=)
|
|
|
NM_022489.4(INF2):c.6G>A (p.Ser2=)
|
|
|
NM_022489.4(INF2):c.700C>A (p.Arg234=)
|
rs750014286
|
|
NM_022489.4(INF2):c.701+18C>T
|
|
|
NM_022489.4(INF2):c.701+7C>A
|
|
|
NM_022489.4(INF2):c.702-11C>T
|
|
|
NM_022489.4(INF2):c.702-13C>T
|
|
|
NM_022489.4(INF2):c.702-15G>A
|
|
|
NM_022489.4(INF2):c.702-18del
|
|
|
NM_022489.4(INF2):c.723G>A (p.Leu241=)
|
|
|
NM_022489.4(INF2):c.724C>T (p.Leu242=)
|
rs2140663300
|
|
NM_022489.4(INF2):c.731A>T (p.Gln244Leu)
|
|
|
NM_022489.4(INF2):c.740C>T (p.Ala247Val)
|
rs1211857426
|
|
NM_022489.4(INF2):c.743T>C (p.Phe248Ser)
|
|
|
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del)
|
rs1889767212
|
|
NM_022489.4(INF2):c.759C>T (p.Ala253=)
|
|
|
NM_022489.4(INF2):c.760G>A (p.Glu254Lys)
|
rs1595169407
|
|
NM_022489.4(INF2):c.771G>A (p.Glu257=)
|
rs914964640
|
|
NM_022489.4(INF2):c.772G>A (p.Glu258Lys)
|
|
|
NM_022489.4(INF2):c.774G>A (p.Glu258=)
|
rs369277782
|
|
NM_022489.4(INF2):c.77C>T (p.Thr26Met)
|
rs1479164061
|
|
NM_022489.4(INF2):c.781C>T (p.Arg261Ter)
|
|
|
NM_022489.4(INF2):c.793G>A (p.Gly265Arg)
|
|
|
NM_022489.4(INF2):c.798C>A (p.Val266=)
|
rs375005967
|
|
NM_022489.4(INF2):c.799G>C (p.Asp267His)
|
|
|
NM_022489.4(INF2):c.804G>T (p.Met268Ile)
|
|
|
NM_022489.4(INF2):c.83C>T (p.Ala28Val)
|
|
|
NM_022489.4(INF2):c.840C>T (p.His280=)
|
rs2140663588
|
|
NM_022489.4(INF2):c.844-10G>A
|
rs761236066
|
|
NM_022489.4(INF2):c.844-17C>A
|
|
|
NM_022489.4(INF2):c.844-20C>A
|
|
|
NM_022489.4(INF2):c.844-7C>T
|
rs376927374
|
|
NM_022489.4(INF2):c.844-8C>T
|
rs1595170187
|
|
NM_022489.4(INF2):c.846G>A (p.Val282=)
|
rs2140665429
|
|
NM_022489.4(INF2):c.849C>T (p.Ser283=)
|
|
|
NM_022489.4(INF2):c.854C>T (p.Ser285Phe)
|
rs2140665449
|
|
NM_022489.4(INF2):c.866C>T (p.Ala289Val)
|
|
|
NM_022489.4(INF2):c.867C>T (p.Ala289=)
|
|
|
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)
|
|
|
NM_022489.4(INF2):c.894C>G (p.Leu298=)
|
rs1271012052
|
|
NM_022489.4(INF2):c.894C>T (p.Leu298=)
|
|
|
NM_022489.4(INF2):c.909C>T (p.Pro303=)
|
rs2140665690
|
|
NM_022489.4(INF2):c.917G>A (p.Arg306His)
|
|
|
NM_022489.4(INF2):c.923G>A (p.Ser308Asn)
|
|
|
NM_022489.4(INF2):c.930G>T (p.Leu310=)
|
rs1253304427
|
|
NM_022489.4(INF2):c.93G>A (p.Glu31=)
|
|
|
NM_022489.4(INF2):c.940G>A (p.Ala314Thr)
|
rs2140665830
|
|
NM_022489.4(INF2):c.942C>T (p.Ala314=)
|
rs774989778
|
|
NM_022489.4(INF2):c.945G>A (p.Leu315=)
|
rs1475991845
|
|
NM_022489.4(INF2):c.949A>G (p.Ser317Gly)
|
rs762702624
|
|
NM_022489.4(INF2):c.954C>T (p.Leu318=)
|
|
|
NM_022489.4(INF2):c.966C>A (p.Ala322=)
|
|
|
NM_022489.4(INF2):c.966C>G (p.Ala322=)
|
rs774024906
|
|
NM_022489.4(INF2):c.967G>A (p.Val323Met)
|
rs761806103
|
|
NM_022489.4(INF2):c.96C>A (p.Ser32Arg)
|
|
|
NM_022489.4(INF2):c.96C>T (p.Ser32=)
|
rs1354243591
|
|
NM_022489.4(INF2):c.975G>A (p.Leu325=)
|
|
|
NM_022489.4(INF2):c.985+11G>A
|
|
|
NM_022489.4(INF2):c.985+12G>A
|
|
|
NM_022489.4(INF2):c.985+13G>A
|
rs752848206
|
|
NM_022489.4(INF2):c.985+16A>G
|
|
|
NM_022489.4(INF2):c.985+5G>A
|
|
|
NM_022489.4(INF2):c.985+5G>C
|
|
|
NM_022489.4(INF2):c.985+8_985+9del
|
rs1273300522
|
|
NM_022489.4(INF2):c.986-10C>T
|
|
|
NM_022489.4(INF2):c.986-8T>A
|
rs2140666731
|
|
NM_022489.4(INF2):c.986C>A (p.Ala329Asp)
|
rs2140666754
|
|
NM_022489.4(INF2):c.994T>G (p.Cys332Gly)
|
rs1399811407
|
|
NM_022489.4(INF2):c.996C>T (p.Cys332=)
|
rs2140666799
|
|
NM_022489.4(INF2):c.997A>C (p.Thr333Pro)
|
|
|
NM_022489.4(INF2):c.997A>G (p.Thr333Ala)
|
rs760664321
|
|
NM_022489.4(INF2):c.99G>A (p.Ala33=)
|
|
|
NM_022489.4(INF2):c.99G>C (p.Ala33=)
|
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.1001+5G>T
|
rs1754315788
|
|
NM_024577.4(SH3TC2):c.1002-13del
|
|
|
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs)
|
rs2127398588
|
|
NM_024577.4(SH3TC2):c.1008G>A (p.Arg336=)
|
rs1754196149
|
|
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp)
|
rs1444603403
|
|
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly)
|
rs753849885
|
|
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser)
|
rs1271507097
|
|
NM_024577.4(SH3TC2):c.1053C>A (p.Ala351=)
|
|
|
NM_024577.4(SH3TC2):c.1053C>T (p.Ala351=)
|
rs754936070
|
|
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg)
|
rs1299916015
|
|
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
|
|
|
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro)
|
rs1580917049
|
|
NM_024577.4(SH3TC2):c.1077G>A (p.Glu359=)
|
|
|
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs)
|
rs2127398558
|
|
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr)
|
rs2127398548
|
|
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu)
|
rs551803988
|
|
NM_024577.4(SH3TC2):c.1131G>T (p.Arg377=)
|
|
|
NM_024577.4(SH3TC2):c.1135+3G>A
|
|
|
NM_024577.4(SH3TC2):c.1136-10C>G
|
|
|
NM_024577.4(SH3TC2):c.1136-5C>T
|
|
|
NM_024577.4(SH3TC2):c.1136-6A>G
|
|
|
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg)
|
rs761184149
|
|
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
|
|
|
NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)
|
|
|
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro)
|
rs141544031
|
|
NM_024577.4(SH3TC2):c.1177+16G>T
|
|
|
NM_024577.4(SH3TC2):c.1177+5G>A
|
rs1561765688
|
|
NM_024577.4(SH3TC2):c.1178-11T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>A
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>T
|
|
|
NM_024577.4(SH3TC2):c.1178-15T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-18C>T
|
|
|
NM_024577.4(SH3TC2):c.1178-4A>G
|
rs2127397727
|
|
NM_024577.4(SH3TC2):c.1178-8C>A
|
rs202042438
|
|
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
|
|
|
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
|
|
|
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala)
|
rs2127397715
|
|
NM_024577.4(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu)
|
rs1554121791
|
|
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu)
|
rs549821020
|
|
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
|
|
|
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser)
|
rs1212536660
|
|
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu)
|
rs774001683
|
|
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
|
|
|
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu)
|
rs777133915
|
|
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys)
|
rs1309091718
|
|
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
|
|
|
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1245G>T (p.Gly415=)
|
|
|
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro)
|
rs1441405268
|
|
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
|
|
|
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu)
|
rs377342074
|
|
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala)
|
rs1469647354
|
|
NM_024577.4(SH3TC2):c.1275C>T (p.Ser425=)
|
|
|
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
|
|
|
NM_024577.4(SH3TC2):c.1299G>C (p.Ser433=)
|
rs140904010
|
|
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr)
|
rs1368926236
|
|
NM_024577.4(SH3TC2):c.1305C>A (p.Thr435=)
|
|
|
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs1754119445
|
|
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu)
|
rs749587305
|
|
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu)
|
rs1580901388
|
|
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
|
|
|
NM_024577.4(SH3TC2):c.1341T>G (p.Leu447=)
|
|
|
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly)
|
rs1489505012
|
|
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
|
|
|
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val)
|
rs1554121765
|
|
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
|
rs1580901363
|
|
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn)
|
rs1234062925
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
|
|
|
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu)
|
rs150950962
|
|
NM_024577.4(SH3TC2):c.1402G>A (p.Ala468Thr)
|
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.1406C>T (p.Pro469Leu)
|
|
|
NM_024577.4(SH3TC2):c.1407C>G (p.Pro469=)
|
|
|
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val)
|
rs779447016
|
|
NM_024577.4(SH3TC2):c.1408A>T (p.Ile470Leu)
|
|
|
NM_024577.4(SH3TC2):c.1422G>C (p.Leu474=)
|
rs1201058981
|
|
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg)
|
rs1673272488
|
|
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe)
|
rs543440112
|
|
NM_024577.4(SH3TC2):c.1440T>A (p.Ala480=)
|
|
|
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
|
|
|
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
|
|
|
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly)
|
rs1416723910
|
|
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro)
|
rs372841815
|
|
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del)
|
rs755728218
|
|
NM_024577.4(SH3TC2):c.1488T>C (p.Ser496=)
|
|
|
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe)
|
rs768299505
|
|
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro)
|
rs1754109858
|
|
NM_024577.4(SH3TC2):c.151+15_151+16del
|
rs569906096
|
|
NM_024577.4(SH3TC2):c.151+16A>G
|
|
|
NM_024577.4(SH3TC2):c.151+19C>T
|
|
|
NM_024577.4(SH3TC2):c.1512G>A (p.Glu504=)
|
rs1580901194
|
|
NM_024577.4(SH3TC2):c.152-16C>T
|
|
|
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs)
|
rs1561765311
|
|
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val)
|
rs1437440770
|
|
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser)
|
rs1554121737
|
|
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter)
|
rs2127397561
|
|
NM_024577.4(SH3TC2):c.154C>T (p.Leu52=)
|
rs1243181790
|
|
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
|
|
|
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2127397557
|
|
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer)
|
rs2127397555
|
|
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
|
|
|
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
|
rs537134516
|
|
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)
|
rs863224781
|
|
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)
|
rs863224454
|
|
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
|
|
|
NM_024577.4(SH3TC2):c.1596C>T (p.Phe532=)
|
|
|
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe)
|
rs1554121725
|
|
NM_024577.4(SH3TC2):c.159A>G (p.Thr53=)
|
|
|
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
|
|
|
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe)
|
rs759220976
|
|
NM_024577.4(SH3TC2):c.1614C>T (p.Ser538=)
|
|
|
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
|
|
|
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu)
|
rs2127397529
|
|
NM_024577.4(SH3TC2):c.1647G>A (p.Val549=)
|
|
|
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln)
|
rs551953142
|
|
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
|
|
|
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs)
|
rs863224520
|
|
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
|
|
|
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
|
|
|
NM_024577.4(SH3TC2):c.1692C>T (p.Asp564=)
|
|
|
NM_024577.4(SH3TC2):c.1698C>T (p.Ser566=)
|
|
|
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
|
|
|
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
|
|
|
NM_024577.4(SH3TC2):c.1719C>T (p.Ile573=)
|
|
|
NM_024577.4(SH3TC2):c.171T>C (p.Cys57=)
|
|
|
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
|
|
|
NM_024577.4(SH3TC2):c.1731C>T (p.Ala577=)
|
rs2127397492
|
|
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met)
|
rs1561765207
|
|
NM_024577.4(SH3TC2):c.1749G>A (p.Arg583=)
|
|
|
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys)
|
rs1754104023
|
|
NM_024577.4(SH3TC2):c.1782G>A (p.Lys594=)
|
rs2127397464
|
|
NM_024577.4(SH3TC2):c.1794G>C (p.Leu598=)
|
rs1554121710
|
|
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
|
rs200332172
|
|
NM_024577.4(SH3TC2):c.1797G>T (p.Leu599=)
|
|
|
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
|
|
|
NM_024577.4(SH3TC2):c.1800C>T (p.Ala600=)
|
|
|
NM_024577.4(SH3TC2):c.1803C>T (p.Cys601=)
|
|
|
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)
|
rs1319576439
|
|
NM_024577.4(SH3TC2):c.1806G>A (p.Leu602=)
|
|
|
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
|
|
|
NM_024577.4(SH3TC2):c.1827C>A (p.Ala609=)
|
rs373737817
|
|
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
|
|
|
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
|
|
|
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr)
|
rs201789838
|
|
NM_024577.4(SH3TC2):c.1845G>A (p.Val615=)
|
rs914238218
|
|
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
|
|
|
NM_024577.4(SH3TC2):c.1855G>A (p.Val619Met)
|
|
|
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)
|
rs1196218767
|
|
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs)
|
rs1554121691
|
|
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=)
|
rs1219611610
|
|
NM_024577.4(SH3TC2):c.1875G>A (p.Val625=)
|
|
|
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu)
|
rs1311201400
|
|
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
|
|
|
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp)
|
rs1380546665
|
|
NM_024577.4(SH3TC2):c.1896G>A (p.Glu632=)
|
|
|
NM_024577.4(SH3TC2):c.18C>T (p.Cys6=)
|
|
|
NM_024577.4(SH3TC2):c.1905C>T (p.Ala635=)
|
rs2127397406
|
|
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
|
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.1923C>T (p.Arg641=)
|
|
|
NM_024577.4(SH3TC2):c.1929C>T (p.Leu643=)
|
|
|
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
|
|
|
NM_024577.4(SH3TC2):c.1943G>A (p.Arg648Gln)
|
rs149077357
|
|
NM_024577.4(SH3TC2):c.1944G>T (p.Arg648=)
|
|
|
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
|
|
|
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser)
|
rs1754098320
|
|
NM_024577.4(SH3TC2):c.1983C>T (p.Leu661=)
|
|
|
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys)
|
rs1754097515
|
|
NM_024577.4(SH3TC2):c.1992A>G (p.Gly664=)
|
rs1380437828
|
|
NM_024577.4(SH3TC2):c.1995C>T (p.His665=)
|
rs751912297
|
|
NM_024577.4(SH3TC2):c.1996C>T (p.Pro666Ser)
|
|
|
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
|
|
|
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)
|
rs864309709
|
|
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs)
|
rs1754097044
|
|
NM_024577.4(SH3TC2):c.2007T>C (p.Ser669=)
|
|
|
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser)
|
rs772378888
|
|
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala)
|
rs1754096756
|
|
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
|
|
|
NM_024577.4(SH3TC2):c.2037G>A (p.Leu679=)
|
|
|
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
|
|
|
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
|
|
|
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg)
|
rs1171441665
|
|
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile)
|
rs773433720
|
|
NM_024577.4(SH3TC2):c.2070G>A (p.Val690=)
|
|
|
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)
|
rs878855092
|
|
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter)
|
rs770170997
|
|
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
|
|
|
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val)
|
rs2127397326
|
|
NM_024577.4(SH3TC2):c.2109G>C (p.Gly703=)
|
rs758849704
|
|
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile)
|
rs1317532477
|
|
NM_024577.4(SH3TC2):c.2124T>A (p.Ile708=)
|
rs2127397311
|
|
NM_024577.4(SH3TC2):c.2133C>G (p.Val711=)
|
rs986521742
|
|
NM_024577.4(SH3TC2):c.2136C>T (p.His712=)
|
rs190680171
|
|
NM_024577.4(SH3TC2):c.2145C>T (p.Leu715=)
|
rs1421062539
|
|
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)
|
rs1561764925
|
|
NM_024577.4(SH3TC2):c.2151C>T (p.Asn717=)
|
|
|
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr)
|
rs2127397284
|
|
NM_024577.4(SH3TC2):c.2199T>A (p.Ser733=)
|
rs1220210982
|
|
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
|
|
|
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
|
|
|
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)
|
rs1318388071
|
|
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe)
|
rs2127397272
|
|
NM_024577.4(SH3TC2):c.2226G>A (p.Gln742=)
|
rs1580900427
|
|
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val)
|
rs962648069
|
|
NM_024577.4(SH3TC2):c.2241T>C (p.Cys747=)
|
rs779264091
|
|
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
|
|
|
NM_024577.4(SH3TC2):c.2262C>T (p.Ser754=)
|
|
|
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro)
|
rs1332446150
|
|
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs1754090424
|
|
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr)
|
rs1754493155
|
|
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr)
|
rs751351645
|
|
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro)
|
rs1580900331
|
|
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
|
|
|
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His)
|
rs2127397225
|
|
NM_024577.4(SH3TC2):c.229C>A (p.Arg77=)
|
rs185149793
|
|
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
|
|
|
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly)
|
rs1754089250
|
|
NM_024577.4(SH3TC2):c.2331C>A (p.Ile777=)
|
|
|
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
|
|
|
NM_024577.4(SH3TC2):c.2368C>T (p.Leu790=)
|
rs2127397177
|
|
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
|
|
|
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
|
|
|
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
|
|
|
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
|
|
|
NM_024577.4(SH3TC2):c.2400C>A (p.Leu800=)
|
|
|
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
|
|
|
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
|
|
|
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
|
|
|
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)
|
rs1561764735
|
|
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
|
|
|
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs746538256
|
|
NM_024577.4(SH3TC2):c.243G>A (p.Leu81=)
|
|
|
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys)
|
rs1754083548
|
|
NM_024577.4(SH3TC2):c.2464C>T (p.Leu822=)
|
rs752906301
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2514C>T (p.Ile838=)
|
|
|
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
|
|
|
NM_024577.4(SH3TC2):c.2538C>T (p.Leu846=)
|
|
|
NM_024577.4(SH3TC2):c.2544T>G (p.Gly848=)
|
|
|
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala)
|
rs749133472
|
|
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
|
rs567173388
|
|
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
|
|
|
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
|
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
|
|
|
NM_024577.4(SH3TC2):c.2560A>C (p.Arg854=)
|
|
|
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
|
|
|
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val)
|
rs139958177
|
|
NM_024577.4(SH3TC2):c.2580T>C (p.Leu860=)
|
|
|
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro)
|
rs142971473
|
|
NM_024577.4(SH3TC2):c.2586C>T (p.Ala862=)
|
|
|
NM_024577.4(SH3TC2):c.2598C>T (p.Ala866=)
|
|
|
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
|
|
|
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu)
|
rs1754079774
|
|
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
|
|
|
NM_024577.4(SH3TC2):c.2634T>C (p.Ala878=)
|
|
|
NM_024577.4(SH3TC2):c.2664G>A (p.Lys888=)
|
|
|
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
|
|
|
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu)
|
rs189591944
|
|
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
|
rs148073022
|
|
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg)
|
rs2127397025
|
|
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile)
|
rs1754076431
|
|
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser)
|
rs2127402247
|
|
NM_024577.4(SH3TC2):c.2760A>G (p.Val920=)
|
|
|
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val)
|
rs1754076016
|
|
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu)
|
rs2127397007
|
|
NM_024577.4(SH3TC2):c.2787T>C (p.Val929=)
|
|
|
NM_024577.4(SH3TC2):c.279+13G>C
|
|
|
NM_024577.4(SH3TC2):c.279+17C>T
|
rs991958791
|
|
NM_024577.4(SH3TC2):c.279+20G>C
|
|
|
NM_024577.4(SH3TC2):c.279+6_279+19dup
|
|
|
NM_024577.4(SH3TC2):c.2790G>C (p.Leu930=)
|
|
|
NM_024577.4(SH3TC2):c.280-16T>A
|
rs2127401469
|
|
NM_024577.4(SH3TC2):c.280-18A>G
|
rs1349104801
|
|
NM_024577.4(SH3TC2):c.280-2A>G
|
rs1561770798
|
|
NM_024577.4(SH3TC2):c.280-3T>C
|
|
|
NM_024577.4(SH3TC2):c.2814T>C (p.His938=)
|
|
|
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe)
|
rs1380115510
|
|
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu)
|
rs1453743523
|
|
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
|
|
|
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser)
|
rs765951062
|
|
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe)
|
rs541695222
|
|
NM_024577.4(SH3TC2):c.2853A>G (p.Leu951=)
|
|
|
NM_024577.4(SH3TC2):c.2856G>A (p.Arg952=)
|
|
|
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
|
|
|
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro)
|
rs1754073175
|
|
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
|
|
|
NM_024577.4(SH3TC2):c.2872+11C>T
|
|
|
NM_024577.4(SH3TC2):c.2872+14A>G
|
rs1374170282
|
|
NM_024577.4(SH3TC2):c.2872+4_2872+7del
|
rs1754073023
|
|
NM_024577.4(SH3TC2):c.2873-10T>A
|
rs1754070727
|
|
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs1205847384
|
|
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
|
|
|
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
|
|
|
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
|
|
|
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro)
|
rs1060501469
|
|
NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr)
|
rs562689036
|
|
NM_024577.4(SH3TC2):c.2904T>C (p.His968=)
|
rs2127396907
|
|
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
|
|
|
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
|
|
|
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala)
|
rs1554121529
|
|
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser)
|
rs369258246
|
|
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup)
|
rs2127396888
|
|
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg)
|
rs1580899530
|
|
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met)
|
rs1561770787
|
|
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
|
|
|
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro)
|
rs2127396874
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.2991G>A (p.Arg997=)
|
|
|
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
|
|
|
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
|
|
|
NM_024577.4(SH3TC2):c.3018C>T (p.Ser1006=)
|
|
|
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala)
|
rs2127396858
|
|
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe)
|
rs1243271992
|
|
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
|
|
|
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val)
|
rs2127401449
|
|
NM_024577.4(SH3TC2):c.3053+11G>T
|
|
|
NM_024577.4(SH3TC2):c.3054-13T>C
|
|
|
NM_024577.4(SH3TC2):c.3054-2A>C
|
rs1580891465
|
|
NM_024577.4(SH3TC2):c.3054-2A>G
|
|
|
NM_024577.4(SH3TC2):c.3060C>T (p.Leu1020=)
|
|
|
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter)
|
rs2127393407
|
|
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
|
|
|
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
|
|
|
NM_024577.4(SH3TC2):c.3093G>A (p.Leu1031=)
|
|
|
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met)
|
rs1554120576
|
|
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp)
|
rs755666455
|
|
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln)
|
rs1580891410
|
|
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
|
|
|
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
|
|
|
NM_024577.4(SH3TC2):c.3132T>C (p.Ala1044=)
|
|
|
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
|
|
|
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val)
|
rs2127393379
|
|
NM_024577.4(SH3TC2):c.3147G>A (p.Gly1049=)
|
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
|
|
|
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His)
|
rs1754426829
|
|
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
|
|
|
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys)
|
rs760656119
|
|
NM_024577.4(SH3TC2):c.3183G>A (p.Glu1061=)
|
rs1237080220
|
|
NM_024577.4(SH3TC2):c.3204+16A>T
|
|
|
NM_024577.4(SH3TC2):c.3204+7C>A
|
|
|
NM_024577.4(SH3TC2):c.3205-20G>A
|
|
|
NM_024577.4(SH3TC2):c.3205-2A>G
|
rs2127392891
|
|
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
|
|
|
NM_024577.4(SH3TC2):c.3234G>A (p.Glu1078=)
|
|
|
NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)
|
|
|
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
|
|
|
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met)
|
rs2127392867
|
|
NM_024577.4(SH3TC2):c.3291G>C (p.Gly1097=)
|
rs775530482
|
|
NM_024577.4(SH3TC2):c.3297C>T (p.Arg1099=)
|
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
|
|
|
NM_024577.4(SH3TC2):c.3318G>A (p.Glu1106=)
|
rs1412557262
|
|
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)
|
rs1580889866
|
|
NM_024577.4(SH3TC2):c.3327+16G>A
|
|
|
NM_024577.4(SH3TC2):c.3327+1G>A
|
rs2127392839
|
|
NM_024577.4(SH3TC2):c.3327+6T>G
|
|
|
NM_024577.4(SH3TC2):c.3328-12T>A
|
|
|
NM_024577.4(SH3TC2):c.3328-1G>T
|
rs1554120331
|
|
NM_024577.4(SH3TC2):c.3328-7T>C
|
rs2127392520
|
|
NM_024577.4(SH3TC2):c.3328-9T>C
|
rs1753738303
|
|
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu)
|
rs115577291
|
|
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met)
|
rs1554120326
|
|
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile)
|
rs752094727
|
|
NM_024577.4(SH3TC2):c.3372T>C (p.Thr1124=)
|
|
|
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993
|
|
NM_024577.4(SH3TC2):c.3384T>A (p.Ile1128=)
|
|
|
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
|
|
|
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
|
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024577.4(SH3TC2):c.3432G>A (p.Lys1144=)
|
rs1580888944
|
|
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3438G>A (p.Leu1146=)
|
rs2127392467
|
|
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
|
|
|
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser)
|
rs1753736056
|
|
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr)
|
rs778351829
|
|
NM_024577.4(SH3TC2):c.3478+14A>C
|
|
|
NM_024577.4(SH3TC2):c.3478+2T>G
|
rs2127392445
|
|
NM_024577.4(SH3TC2):c.3478+4G>A
|
|
|
NM_024577.4(SH3TC2):c.3479-8A>C
|
|
|
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
|
|
|
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly)
|
rs2127392009
|
|
NM_024577.4(SH3TC2):c.3504C>A (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3504C>T (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
|
|
|
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del)
|
rs1753702797
|
|
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3534C>A (p.Ser1178=)
|
rs2127391999
|
|
NM_024577.4(SH3TC2):c.3535C>T (p.Leu1179=)
|
rs1031965152
|
|
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
|
|
|
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser)
|
rs1343590454
|
|
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser)
|
rs1561756981
|
|
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
|
|
|
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.3602A>T (p.Gln1201Leu)
|
rs776962303
|
|
NM_024577.4(SH3TC2):c.3603G>A (p.Gln1201=)
|
|
|
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
|
|
|
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys)
|
rs926087682
|
|
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp)
|
rs1753699992
|
|
NM_024577.4(SH3TC2):c.3621G>A (p.Leu1207=)
|
rs770300877
|
|
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met)
|
rs756174696
|
|
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys)
|
rs267600481
|
|
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs)
|
rs369695480
|
|
NM_024577.4(SH3TC2):c.3651C>A (p.Gly1217=)
|
rs1753699032
|
|
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
|
|
|
NM_024577.4(SH3TC2):c.3675+17C>G
|
|
|
NM_024577.4(SH3TC2):c.3676-11C>A
|
|
|
NM_024577.4(SH3TC2):c.3676-13A>G
|
rs1753660598
|
|
NM_024577.4(SH3TC2):c.3676-18C>T
|
|
|
NM_024577.4(SH3TC2):c.3676-1G>A
|
rs1306229414
|
|
NM_024577.4(SH3TC2):c.3676-8G>A
|
rs772823083
|
|
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
|
|
|
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln)
|
rs1753659994
|
|
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
|
|
|
NM_024577.4(SH3TC2):c.369C>T (p.Ser123=)
|
|
|
NM_024577.4(SH3TC2):c.3720A>T (p.Ala1240=)
|
|
|
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
|
|
|
NM_024577.4(SH3TC2):c.3729G>A (p.Leu1243=)
|
rs1335682517
|
|
NM_024577.4(SH3TC2):c.3762G>A (p.Arg1254=)
|
rs374376222
|
|
NM_024577.4(SH3TC2):c.3768G>A (p.Arg1256=)
|
|
|
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
|
|
|
NM_024577.4(SH3TC2):c.3771G>A (p.Leu1257=)
|
rs1472880531
|
|
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser)
|
rs1753657850
|
|
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
|
|
|
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg)
|
rs1210794926
|
|
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala)
|
rs945895550
|
|
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg)
|
rs1753657395
|
|
NM_024577.4(SH3TC2):c.3795G>A (p.Leu1265=)
|
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp)
|
rs1753656892
|
|
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
|
|
|
NM_024577.4(SH3TC2):c.3807G>A (p.Arg1269=)
|
|
|
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser)
|
rs370090569
|
|
NM_024577.4(SH3TC2):c.3810C>T (p.Pro1270=)
|
rs2127391368
|
|
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=)
|
rs1038817068
|
|
NM_024577.4(SH3TC2):c.3846T>C (p.Ser1282=)
|
|
|
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del)
|
rs1554120043
|
|
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006
|
|
NM_024577.4(SH3TC2):c.385+16A>G
|
|
|
NM_024577.4(SH3TC2):c.385+1G>T
|
rs2127401413
|
|
NM_024577.4(SH3TC2):c.385+2T>C
|
rs773554464
|
|
NM_024577.4(SH3TC2):c.385+4_385+8del
|
rs148930563
|
|
NM_024577.4(SH3TC2):c.385+9C>T
|
rs1561770736
|
|
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp)
|
rs771840516
|
|
NM_024577.4(SH3TC2):c.386-10G>A
|
rs1580910938
|
|
NM_024577.4(SH3TC2):c.386-12T>C
|
rs370151955
|
|
NM_024577.4(SH3TC2):c.386-18G>A
|
|
|
NM_024577.4(SH3TC2):c.386-18G>T
|
|
|
NM_024577.4(SH3TC2):c.391G>A (p.Val131Ile)
|
|
|
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
|
|
|
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
|
|
|
NM_024577.4(SH3TC2):c.414C>T (p.Leu138=)
|
rs2127400982
|
|
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg)
|
rs1168407927
|
|
NM_024577.4(SH3TC2):c.42C>T (p.Thr14=)
|
rs2127406106
|
|
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro)
|
rs2127400975
|
|
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=)
|
rs976553031
|
|
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp)
|
rs1423301895
|
|
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
|
|
|
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
|
|
|
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala)
|
rs779715536
|
|
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser)
|
rs753975938
|
|
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.483T>C (p.Asp161=)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.48C>T (p.Gly16=)
|
rs1580924418
|
|
NM_024577.4(SH3TC2):c.493C>T (p.Leu165=)
|
|
|
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)
|
rs1554122847
|
|
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser)
|
rs1554124107
|
|
NM_024577.4(SH3TC2):c.507C>T (p.Tyr169=)
|
rs1754392291
|
|
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val)
|
rs2127400948
|
|
NM_024577.4(SH3TC2):c.515T>C (p.Leu172Pro)
|
|
|
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg)
|
rs1408319932
|
|
NM_024577.4(SH3TC2):c.52+11dup
|
rs2127406089
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.525G>A (p.Gln175=)
|
rs2127400937
|
|
NM_024577.4(SH3TC2):c.529+14del
|
|
|
NM_024577.4(SH3TC2):c.53-2A>G
|
rs2127403412
|
|
NM_024577.4(SH3TC2):c.53-4C>T
|
|
|
NM_024577.4(SH3TC2):c.53-5T>C
|
rs1186354032
|
|
NM_024577.4(SH3TC2):c.53-5_53-3del
|
|
|
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
|
|
|
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
|
|
|
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del)
|
rs763476083
|
|
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
|
|
|
NM_024577.4(SH3TC2):c.550C>T (p.Leu184=)
|
rs1210183194
|
|
NM_024577.4(SH3TC2):c.558C>A (p.Ser186=)
|
rs141289653
|
|
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala)
|
rs1554122762
|
|
NM_024577.4(SH3TC2):c.561G>A (p.Val187=)
|
rs2127400689
|
|
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
|
|
|
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro)
|
rs2127400685
|
|
NM_024577.4(SH3TC2):c.573C>A (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.573C>T (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
|
|
|
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
|
|
|
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
|
|
|
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
|
|
|
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
|
|
|
NM_024577.4(SH3TC2):c.603C>T (p.Cys201=)
|
rs760150466
|
|
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys)
|
rs1754371704
|
|
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
|
|
|
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
|
|
|
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
|
|
|
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
|
|
|
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp)
|
rs748374150
|
|
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
|
|
|
NM_024577.4(SH3TC2):c.657C>G (p.Gly219=)
|
|
|
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391
|
|
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter)
|
rs2127400649
|
|
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs532463685
|
|
NM_024577.4(SH3TC2):c.682G>A (p.Gly228Ser)
|
rs751022040
|
|
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
|
rs1025939209
|
|
NM_024577.4(SH3TC2):c.696G>C (p.Val232=)
|
|
|
NM_024577.4(SH3TC2):c.720C>A (p.Leu240=)
|
|
|
NM_024577.4(SH3TC2):c.731+14T>C
|
|
|
NM_024577.4(SH3TC2):c.731+4A>G
|
|
|
NM_024577.4(SH3TC2):c.732-19C>A
|
|
|
NM_024577.4(SH3TC2):c.732-20C>A
|
|
|
NM_024577.4(SH3TC2):c.732-6T>C
|
rs1554122676
|
|
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu)
|
rs751095271
|
|
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser)
|
rs760971566
|
|
NM_024577.4(SH3TC2):c.753A>T (p.Pro251=)
|
rs2127400486
|
|
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr)
|
rs2127400485
|
|
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
|
|
|
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
|
|
|
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
|
|
|
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284
|
|
NM_024577.4(SH3TC2):c.805+18A>T
|
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
|
NM_024577.4(SH3TC2):c.806-12T>C
|
|
|
NM_024577.4(SH3TC2):c.806-1G>A
|
rs1554122560
|
|
NM_024577.4(SH3TC2):c.819T>C (p.Cys273=)
|
rs2127400023
|
|
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)
|
rs1754320158
|
|
NM_024577.4(SH3TC2):c.822G>A (p.Lys274=)
|
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met)
|
rs1580908028
|
|
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe)
|
rs1754319874
|
|
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser)
|
rs1204913371
|
|
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val)
|
rs757292503
|
|
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
|
|
|
NM_024577.4(SH3TC2):c.849A>G (p.Glu283=)
|
rs2127400009
|
|
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
|
|
|
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly)
|
rs763037689
|
|
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys)
|
rs2127400005
|
|
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser)
|
rs1233598157
|
|
NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala)
|
rs1222332332
|
|
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp)
|
rs1465198831
|
|
NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala)
|
rs1754317882
|
|
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)
|
rs1754317705
|
|
NM_024577.4(SH3TC2):c.912G>A (p.Gly304=)
|
rs757204346
|
|
NM_024577.4(SH3TC2):c.912G>C (p.Gly304=)
|
|
|
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)
|
rs80338921
|
|
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr)
|
rs1754317366
|
|
NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu)
|
rs1251082752
|
|
NM_024577.4(SH3TC2):c.96T>C (p.Cys32=)
|
|
|
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
|
|
|
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr)
|
rs1754316407
|
|
NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)
|
|
|
NM_030962.3(SBF2):c.1929+15398_2137del
|
|
|
NM_030962.4(SBF2):c.1002A>C (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1002A>G (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1016C>T (p.Pro339Leu)
|
|
|
NM_030962.4(SBF2):c.1017T>C (p.Pro339=)
|
|
|
NM_030962.4(SBF2):c.1028C>T (p.Thr343Ile)
|
|
|
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu)
|
rs746685729
|
|
NM_030962.4(SBF2):c.1053+11del
|
rs1238757806
|
|
NM_030962.4(SBF2):c.1054-13C>T
|
|
|
NM_030962.4(SBF2):c.1054-15_1054-2del
|
|
|
NM_030962.4(SBF2):c.1065G>A (p.Val355=)
|
rs2134472414
|
|
NM_030962.4(SBF2):c.109G>A (p.Asp37Asn)
|
rs759977048
|
|
NM_030962.4(SBF2):c.1102C>G (p.Gln368Glu)
|
rs2134472163
|
|
NM_030962.4(SBF2):c.1107A>G (p.Gly369=)
|
|
|
NM_030962.4(SBF2):c.1112G>C (p.Arg371Thr)
|
|
|
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg)
|
rs371432409
|
|
NM_030962.4(SBF2):c.1167+4A>G
|
rs1240919799
|
|
NM_030962.4(SBF2):c.1167+7T>C
|
|
|
NM_030962.4(SBF2):c.1168-13del
|
|
|
NM_030962.4(SBF2):c.116C>T (p.Thr39Ile)
|
rs1957273770
|
|
NM_030962.4(SBF2):c.1183C>A (p.Gln395Lys)
|
rs1590699984
|
|
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys)
|
rs2134469917
|
|
NM_030962.4(SBF2):c.1197C>T (p.Val399=)
|
|
|
NM_030962.4(SBF2):c.1214C>G (p.Thr405Ser)
|
rs2134469840
|
|
NM_030962.4(SBF2):c.1216A>G (p.Lys406Glu)
|
rs760704483
|
|
NM_030962.4(SBF2):c.1222C>G (p.Leu408Val)
|
rs1220835376
|
|
NM_030962.4(SBF2):c.1240G>A (p.Ala414Thr)
|
rs1947481086
|
|
NM_030962.4(SBF2):c.1273A>C (p.Arg425=)
|
rs1554976504
|
|
NM_030962.4(SBF2):c.1297-10T>C
|
rs1249564766
|
|
NM_030962.4(SBF2):c.1297-2A>G
|
rs752649372
|
|
NM_030962.4(SBF2):c.1297-6T>C
|
rs1554975593
|
|
NM_030962.4(SBF2):c.1308T>G (p.Phe436Leu)
|
rs2134459399
|
|
NM_030962.4(SBF2):c.1333G>A (p.Glu445Lys)
|
rs1565100821
|
|
NM_030962.4(SBF2):c.1338T>C (p.Asn446=)
|
|
|
NM_030962.4(SBF2):c.1351A>G (p.Met451Val)
|
|
|
NM_030962.4(SBF2):c.1395+8_1395+11del
|
rs763174480
|
|
NM_030962.4(SBF2):c.1396-3C>G
|
rs375346684
|
|
NM_030962.4(SBF2):c.1396-8T>C
|
|
|
NM_030962.4(SBF2):c.1396-9A>G
|
rs548520529
|
|
NM_030962.4(SBF2):c.1399A>G (p.Asn467Asp)
|
|
|
NM_030962.4(SBF2):c.141+11G>T
|
rs774519680
|
|
NM_030962.4(SBF2):c.1411C>A (p.His471Asn)
|
|
|
NM_030962.4(SBF2):c.1412A>T (p.His471Leu)
|
rs763176916
|
|
NM_030962.4(SBF2):c.1413T>A (p.His471Gln)
|
rs769911496
|
|
NM_030962.4(SBF2):c.1414A>G (p.Met472Val)
|
rs1590636623
|
|
NM_030962.4(SBF2):c.142-10T>C
|
|
|
NM_030962.4(SBF2):c.142-14del
|
|
|
NM_030962.4(SBF2):c.142-14dup
|
rs530695547
|
|
NM_030962.4(SBF2):c.142-6A>G
|
rs1241730559
|
|
NM_030962.4(SBF2):c.1434A>G (p.Pro478=)
|
rs946519735
|
|
NM_030962.4(SBF2):c.1440A>G (p.Pro480=)
|
|
|
NM_030962.4(SBF2):c.1441A>G (p.Thr481Ala)
|
|
|
NM_030962.4(SBF2):c.1442C>G (p.Thr481Arg)
|
rs2134388086
|
|
NM_030962.4(SBF2):c.1443A>G (p.Thr481=)
|
|
|
NM_030962.4(SBF2):c.1449A>C (p.Gly483=)
|
|
|
NM_030962.4(SBF2):c.144T>A (p.Phe48Leu)
|
|
|
NM_030962.4(SBF2):c.1459C>A (p.Arg487=)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1491T>C (p.Asn497=)
|
rs767806871
|
|
NM_030962.4(SBF2):c.1498C>A (p.Arg500=)
|
|
|
NM_030962.4(SBF2):c.1515A>T (p.Ile505=)
|
|
|
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
|
|
|
NM_030962.4(SBF2):c.1517A>C (p.Gln506Pro)
|
rs2134387742
|
|
NM_030962.4(SBF2):c.1520A>G (p.Glu507Gly)
|
|
|
NM_030962.4(SBF2):c.1527T>A (p.Val509=)
|
|
|
NM_030962.4(SBF2):c.1536C>T (p.Asn512=)
|
|
|
NM_030962.4(SBF2):c.1537C>G (p.Gln513Glu)
|
|
|
NM_030962.4(SBF2):c.1546C>G (p.Pro516Ala)
|
|
|
NM_030962.4(SBF2):c.1553C>A (p.Ala518Asp)
|
rs1474146157
|
|
NM_030962.4(SBF2):c.1555A>G (p.Thr519Ala)
|
rs2134387621
|
|
NM_030962.4(SBF2):c.156C>A (p.Gly52=)
|
|
|
NM_030962.4(SBF2):c.156C>T (p.Gly52=)
|
rs779676883
|
|
NM_030962.4(SBF2):c.1571A>C (p.Lys524Thr)
|
rs1207040016
|
|
NM_030962.4(SBF2):c.1578T>G (p.Val526=)
|
|
|
NM_030962.4(SBF2):c.157G>A (p.Gly53Arg)
|
|
|
NM_030962.4(SBF2):c.1580T>C (p.Val527Ala)
|
rs1867103004
|
|
NM_030962.4(SBF2):c.1600+17_1600+20del
|
|
|
NM_030962.4(SBF2):c.1600G>C (p.Val534Leu)
|
rs1590635892
|
|
NM_030962.4(SBF2):c.1601-10C>A
|
rs761998992
|
|
NM_030962.4(SBF2):c.1601-13A>G
|
|
|
NM_030962.4(SBF2):c.1601-3T>G
|
rs2134369689
|
|
NM_030962.4(SBF2):c.1601-8T>G
|
|
|
NM_030962.4(SBF2):c.1601-8_1601-6del
|
rs2134369709
|
|
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu)
|
rs775279773
|
|
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu)
|
rs201806063
|
|
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met)
|
rs372109447
|
|
NM_030962.4(SBF2):c.1626A>G (p.Thr542=)
|
|
|
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu)
|
rs777289065
|
|
NM_030962.4(SBF2):c.1636A>T (p.Ser546Cys)
|
rs2134369489
|
|
NM_030962.4(SBF2):c.1652_1653inv (p.Glu551Val)
|
|
|
NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)
|
|
|
NM_030962.4(SBF2):c.165G>T (p.Gln55His)
|
|
|
NM_030962.4(SBF2):c.1661G>A (p.Arg554Lys)
|
rs1161860280
|
|
NM_030962.4(SBF2):c.1675T>G (p.Phe559Val)
|
|
|
NM_030962.4(SBF2):c.1675_1677inv (p.Phe559Glu)
|
|
|
NM_030962.4(SBF2):c.167T>C (p.Leu56Pro)
|
|
|
NM_030962.4(SBF2):c.1710+15_1710+28del
|
rs2134369196
|
|
NM_030962.4(SBF2):c.1711-15C>G
|
|
|
NM_030962.4(SBF2):c.1711-5C>A
|
rs770969528
|
|
NM_030962.4(SBF2):c.1711-8G>T
|
rs1590619062
|
|
NM_030962.4(SBF2):c.1722T>A (p.Ala574=)
|
|
|
NM_030962.4(SBF2):c.1758G>C (p.Gln586His)
|
|
|
NM_030962.4(SBF2):c.1768G>A (p.Asp590Asn)
|
rs1565064376
|
|
NM_030962.4(SBF2):c.1818A>G (p.Gln606=)
|
|
|
NM_030962.4(SBF2):c.181A>G (p.Lys61Glu)
|
rs549233218
|
|
NM_030962.4(SBF2):c.1822T>G (p.Phe608Val)
|
rs2134363226
|
|
NM_030962.4(SBF2):c.1831A>T (p.Ile611Leu)
|
rs964428805
|
|
NM_030962.4(SBF2):c.1834A>G (p.Ile612Val)
|
|
|
NM_030962.4(SBF2):c.1837A>G (p.Arg613Gly)
|
|
|
NM_030962.4(SBF2):c.1860+10A>G
|
rs778305149
|
|
NM_030962.4(SBF2):c.1860+15T>C
|
|
|
NM_030962.4(SBF2):c.1861-9T>C
|
rs2134134508
|
|
NM_030962.4(SBF2):c.1862A>G (p.Asp621Gly)
|
rs765204789
|
|
NM_030962.4(SBF2):c.187C>T (p.Pro63Ser)
|
|
|
NM_030962.4(SBF2):c.1892C>A (p.Ala631Asp)
|
rs376057124
|
|
NM_030962.4(SBF2):c.1893C>G (p.Ala631=)
|
rs760154688
|
|
NM_030962.4(SBF2):c.1906C>A (p.Pro636Thr)
|
|
|
NM_030962.4(SBF2):c.1911G>C (p.Leu637Phe)
|
rs1373091395
|
|
NM_030962.4(SBF2):c.1925A>G (p.Tyr642Cys)
|
|
|
NM_030962.4(SBF2):c.1928G>A (p.Arg643Lys)
|
|
|
NM_030962.4(SBF2):c.1929+13G>C
|
|
|
NM_030962.4(SBF2):c.1929+4A>C
|
|
|
NM_030962.4(SBF2):c.1929+4A>G
|
|
|
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs)
|
rs1949709115
|
|
NM_030962.4(SBF2):c.1930-10G>A
|
rs765561519
|
|
NM_030962.4(SBF2):c.1930-10G>T
|
rs765561519
|
|
NM_030962.4(SBF2):c.1930-6T>G
|
|
|
NM_030962.4(SBF2):c.1930-9T>C
|
|
|
NM_030962.4(SBF2):c.1930-9T>G
|
rs1857476118
|
|
NM_030962.4(SBF2):c.1931A>C (p.Lys644Thr)
|
rs1857475272
|
|
NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)
|
rs1564923441
|
|
NM_030962.4(SBF2):c.1953G>C (p.Gln651His)
|
rs2134007186
|
|
NM_030962.4(SBF2):c.1958C>T (p.Ala653Val)
|
rs2134007178
|
|
NM_030962.4(SBF2):c.195C>G (p.Phe65Leu)
|
rs1949709027
|
|
NM_030962.4(SBF2):c.1997A>G (p.Gln666Arg)
|
rs2134006965
|
|
NM_030962.4(SBF2):c.2010G>A (p.Glu670=)
|
|
|
NM_030962.4(SBF2):c.2016C>G (p.Thr672=)
|
|
|
NM_030962.4(SBF2):c.2023A>C (p.Asn675His)
|
|
|
NM_030962.4(SBF2):c.2031G>A (p.Val677=)
|
|
|
NM_030962.4(SBF2):c.2041G>A (p.Val681Ile)
|
|
|
NM_030962.4(SBF2):c.2058C>G (p.Leu686=)
|
|
|
NM_030962.4(SBF2):c.2058C>T (p.Leu686=)
|
rs895655461
|
|
NM_030962.4(SBF2):c.2079T>C (p.His693=)
|
|
|
NM_030962.4(SBF2):c.2083C>G (p.Pro695Ala)
|
|
|
NM_030962.4(SBF2):c.2100+17_2100+19dup
|
rs751432798
|
|
NM_030962.4(SBF2):c.2101-14G>T
|
|
|
NM_030962.4(SBF2):c.2102A>G (p.Asp701Gly)
|
rs1590235062
|
|
NM_030962.4(SBF2):c.2112T>A (p.Pro704=)
|
rs1857340727
|
|
NM_030962.4(SBF2):c.2128_2130del (p.Glu710del)
|
|
|
NM_030962.4(SBF2):c.2140A>G (p.Met714Val)
|
|
|
NM_030962.4(SBF2):c.2149G>A (p.Ala717Thr)
|
|
|
NM_030962.4(SBF2):c.2150C>T (p.Ala717Val)
|
rs1857337701
|
|
NM_030962.4(SBF2):c.215A>C (p.Asp72Ala)
|
rs1060500000
|
|
NM_030962.4(SBF2):c.2161C>T (p.Leu721=)
|
rs2134001499
|
|
NM_030962.4(SBF2):c.2178C>A (p.Thr726=)
|
rs1590234812
|
|
NM_030962.4(SBF2):c.2203C>G (p.Leu735Val)
|
|
|
NM_030962.4(SBF2):c.2205A>G (p.Leu735=)
|
|
|
NM_030962.4(SBF2):c.2206G>A (p.Val736Met)
|
|
|
NM_030962.4(SBF2):c.2220A>G (p.Glu740=)
|
|
|
NM_030962.4(SBF2):c.2244T>C (p.Ile748=)
|
|
|
NM_030962.4(SBF2):c.2257C>T (p.Leu753Phe)
|
rs1857329536
|
|
NM_030962.4(SBF2):c.2260A>T (p.Met754Leu)
|
rs745452169
|
|
NM_030962.4(SBF2):c.2287dup (p.Thr763fs)
|
|
|
NM_030962.4(SBF2):c.2289A>G (p.Thr763=)
|
|
|
NM_030962.4(SBF2):c.2293A>G (p.Lys765Glu)
|
|
|
NM_030962.4(SBF2):c.2325T>C (p.Gly775=)
|
|
|
NM_030962.4(SBF2):c.2325T>G (p.Gly775=)
|
rs2134000781
|
|
NM_030962.4(SBF2):c.2329T>G (p.Trp777Gly)
|
rs1321841784
|
|
NM_030962.4(SBF2):c.2358A>C (p.Thr786=)
|
|
|
NM_030962.4(SBF2):c.2363+11G>A
|
rs2134000617
|
|
NM_030962.4(SBF2):c.2363+15A>G
|
|
|
NM_030962.4(SBF2):c.2363+20C>A
|
|
|
NM_030962.4(SBF2):c.2364-7G>T
|
|
|
NM_030962.4(SBF2):c.2381C>T (p.Ala794Val)
|
rs1857121933
|
|
NM_030962.4(SBF2):c.2445T>C (p.Val815=)
|
|
|
NM_030962.4(SBF2):c.2448G>A (p.Val816=)
|
|
|
NM_030962.4(SBF2):c.246C>T (p.Cys82=)
|
|
|
NM_030962.4(SBF2):c.2472C>T (p.Asp824=)
|
|
|
NM_030962.4(SBF2):c.2482A>G (p.Thr828Ala)
|
|
|
NM_030962.4(SBF2):c.2492G>C (p.Gly831Ala)
|
|
|
NM_030962.4(SBF2):c.2499T>G (p.Thr833=)
|
rs1236236536
|
|
NM_030962.4(SBF2):c.2513A>G (p.Lys838Arg)
|
|
|
NM_030962.4(SBF2):c.2531T>A (p.Ile844Lys)
|
|
|
NM_030962.4(SBF2):c.2536+14A>G
|
|
|
NM_030962.4(SBF2):c.2536+18A>C
|
|
|
NM_030962.4(SBF2):c.2536+1G>A
|
rs1060500001
|
|
NM_030962.4(SBF2):c.2537-10C>G
|
|
|
NM_030962.4(SBF2):c.2537-11A>G
|
|
|
NM_030962.4(SBF2):c.2537-4del
|
rs1252682513
|
|
NM_030962.4(SBF2):c.2574A>G (p.Val858=)
|
|
|
NM_030962.4(SBF2):c.2578C>A (p.Arg860=)
|
rs764814296
|
|
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe)
|
rs745669920
|
|
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr)
|
rs1228676321
|
|
NM_030962.4(SBF2):c.2599C>T (p.Pro867Ser)
|
rs1857042661
|
|
NM_030962.4(SBF2):c.2601T>C (p.Pro867=)
|
|
|
NM_030962.4(SBF2):c.2610+10G>A
|
|
|
NM_030962.4(SBF2):c.2610+12C>T
|
|
|
NM_030962.4(SBF2):c.2610+16A>G
|
|
|
NM_030962.4(SBF2):c.2610+19C>T
|
|
|
NM_030962.4(SBF2):c.2610G>A (p.Lys870=)
|
|
|
NM_030962.4(SBF2):c.2611-16C>A
|
|
|
NM_030962.4(SBF2):c.2611-18A>C
|
|
|
NM_030962.4(SBF2):c.2611-18A>T
|
|
|
NM_030962.4(SBF2):c.2611-35AATC[3]
|
|
|
NM_030962.4(SBF2):c.2611-35AATC[4]
|
rs202029370
|
|
NM_030962.4(SBF2):c.2611-35AATC[6]
|
rs202029370
|
|
NM_030962.4(SBF2):c.2611-5G>A
|
|
|
NM_030962.4(SBF2):c.2611-5G>T
|
rs1590218785
|
|
NM_030962.4(SBF2):c.2611-9T>C
|
|
|
NM_030962.4(SBF2):c.2612C>G (p.Pro871Arg)
|
rs1856823248
|
|
NM_030962.4(SBF2):c.2627C>G (p.Pro876Arg)
|
rs912881512
|
|
NM_030962.4(SBF2):c.2653G>T (p.Val885Phe)
|
rs1856820562
|
|
NM_030962.4(SBF2):c.2655_2658del (p.Cys886fs)
|
|
|
NM_030962.4(SBF2):c.2663G>T (p.Gly888Val)
|
rs777117399
|
|
NM_030962.4(SBF2):c.267G>T (p.Glu89Asp)
|
rs1565165888
|
|
NM_030962.4(SBF2):c.2685T>C (p.Pro895=)
|
rs1409235455
|
|
NM_030962.4(SBF2):c.2689G>A (p.Gly897Arg)
|
rs1554924568
|
|
NM_030962.4(SBF2):c.2709A>C (p.Gly903=)
|
rs140152705
|
|
NM_030962.4(SBF2):c.2710G>T (p.Gly904Cys)
|
rs1856816602
|
|
NM_030962.4(SBF2):c.2717T>C (p.Leu906Pro)
|
rs1856816042
|
|
NM_030962.4(SBF2):c.2722G>A (p.Gly908Ser)
|
rs1856815904
|
|
NM_030962.4(SBF2):c.272A>C (p.Asn91Thr)
|
rs1206056257
|
|
NM_030962.4(SBF2):c.2742A>G (p.Ala914=)
|
rs2133981778
|
|
NM_030962.4(SBF2):c.2743G>A (p.Glu915Lys)
|
|
|
NM_030962.4(SBF2):c.2743G>C (p.Glu915Gln)
|
|
|
NM_030962.4(SBF2):c.2783G>T (p.Arg928Ile)
|
|
|
NM_030962.4(SBF2):c.2789C>A (p.Thr930Lys)
|
rs755578344
|
|
NM_030962.4(SBF2):c.279+15A>G
|
|
|
NM_030962.4(SBF2):c.279+17T>C
|
|
|
NM_030962.4(SBF2):c.279+4C>A
|
rs757128114
|
|
NM_030962.4(SBF2):c.2795A>G (p.His932Arg)
|
rs1554924467
|
|
NM_030962.4(SBF2):c.2798A>G (p.Asp933Gly)
|
|
|
NM_030962.4(SBF2):c.280-17A>C
|
rs777674707
|
|
NM_030962.4(SBF2):c.280-17A>G
|
|
|
NM_030962.4(SBF2):c.280-6_280-5del
|
|
|
NM_030962.4(SBF2):c.2806+18A>G
|
|
|
NM_030962.4(SBF2):c.2806+8T>G
|
|
|
NM_030962.4(SBF2):c.2807-11T>G
|
|
|
NM_030962.4(SBF2):c.2813A>G (p.Glu938Gly)
|
|
|
NM_030962.4(SBF2):c.2827C>T (p.Arg943Trp)
|
rs1324654662
|
|
NM_030962.4(SBF2):c.2838C>T (p.Pro946=)
|
|
|
NM_030962.4(SBF2):c.2839A>G (p.Ile947Val)
|
|
|
NM_030962.4(SBF2):c.2844C>G (p.Ala948=)
|
rs762600096
|
|
NM_030962.4(SBF2):c.2844C>T (p.Ala948=)
|
rs762600096
|
|
NM_030962.4(SBF2):c.2848A>C (p.Ile950Leu)
|
|
|
NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)
|
|
|
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu)
|
rs1856598871
|
|
NM_030962.4(SBF2):c.2867T>C (p.Ile956Thr)
|
rs2133973910
|
|
NM_030962.4(SBF2):c.2886A>C (p.Leu962=)
|
|
|
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser)
|
rs1008248276
|
|
NM_030962.4(SBF2):c.2897_2898delinsAT (p.Met966Asn)
|
rs2133973790
|
|
NM_030962.4(SBF2):c.2904A>G (p.Glu968=)
|
|
|
NM_030962.4(SBF2):c.2907A>G (p.Gly969=)
|
rs1057523299
|
|
NM_030962.4(SBF2):c.2908C>T (p.Leu970=)
|
rs1370817659
|
|
NM_030962.4(SBF2):c.2927C>T (p.Ser976Phe)
|
rs1564909729
|
|
NM_030962.4(SBF2):c.2934+11dup
|
|
|
NM_030962.4(SBF2):c.2934+15A>G
|
rs1461263560
|
|
NM_030962.4(SBF2):c.2934+16G>A
|
|
|
NM_030962.4(SBF2):c.2934+17C>G
|
|
|
NM_030962.4(SBF2):c.2934+18del
|
rs751526911
|
|
NM_030962.4(SBF2):c.2935-12T>C
|
|
|
NM_030962.4(SBF2):c.2935-15C>T
|
|
|
NM_030962.4(SBF2):c.293A>G (p.Glu98Gly)
|
|
|
NM_030962.4(SBF2):c.2941A>G (p.Lys981Glu)
|
|
|
NM_030962.4(SBF2):c.2948C>A (p.Ala983Glu)
|
|
|
NM_030962.4(SBF2):c.2975TAG[1] (p.Val993del)
|
|
|
NM_030962.4(SBF2):c.3000G>A (p.Leu1000=)
|
rs1564908294
|
|
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu)
|
rs781742897
|
|
NM_030962.4(SBF2):c.3010C>T (p.Arg1004Cys)
|
rs1008990516
|
|
NM_030962.4(SBF2):c.3015T>C (p.Tyr1005=)
|
rs1554922354
|
|
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser)
|
rs886048781
|
|
NM_030962.4(SBF2):c.3021G>A (p.Gln1007=)
|
|
|
NM_030962.4(SBF2):c.3030C>T (p.Phe1010=)
|
rs2133969868
|
|
NM_030962.4(SBF2):c.3033T>C (p.Ser1011=)
|
|
|
NM_030962.4(SBF2):c.3057A>G (p.Gln1019=)
|
|
|
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
|
|
|
NM_030962.4(SBF2):c.3084A>C (p.Lys1028Asn)
|
|
|
NM_030962.4(SBF2):c.3087G>T (p.Gln1029His)
|
|
|
NM_030962.4(SBF2):c.3093A>G (p.Glu1031=)
|
|
|
NM_030962.4(SBF2):c.3098A>G (p.Asn1033Ser)
|
rs1856485648
|
|
NM_030962.4(SBF2):c.3099C>T (p.Asn1033=)
|
rs139437755
|
|
NM_030962.4(SBF2):c.3104C>A (p.Ser1035Tyr)
|
rs1856484914
|
|
NM_030962.4(SBF2):c.3110+10_3110+13del
|
|
|
NM_030962.4(SBF2):c.3110+14C>A
|
|
|
NM_030962.4(SBF2):c.3110+2_3110+4delinsGAG
|
rs1856483925
|
|
NM_030962.4(SBF2):c.3110+4A>G
|
|
|
NM_030962.4(SBF2):c.3110G>C (p.Arg1037Pro)
|
rs748477865
|
|
NM_030962.4(SBF2):c.3111-11A>C
|
|
|
NM_030962.4(SBF2):c.3111-3T>C
|
rs2133961719
|
|
NM_030962.4(SBF2):c.3111-7C>G
|
rs1856254310
|
|
NM_030962.4(SBF2):c.3111-7C>T
|
|
|
NM_030962.4(SBF2):c.3115T>G (p.Phe1039Val)
|
|
|
NM_030962.4(SBF2):c.3125C>T (p.Thr1042Ile)
|
rs1856252791
|
|
NM_030962.4(SBF2):c.3135A>G (p.Lys1045=)
|
rs1554920965
|
|
NM_030962.4(SBF2):c.313A>G (p.Lys105Glu)
|
rs139730490
|
|
NM_030962.4(SBF2):c.3142A>G (p.Lys1048Glu)
|
|
|
NM_030962.4(SBF2):c.3153G>A (p.Gly1051=)
|
|
|
NM_030962.4(SBF2):c.3167G>C (p.Gly1056Ala)
|
|
|
NM_030962.4(SBF2):c.3194C>T (p.Thr1065Ile)
|
rs2133961495
|
|
NM_030962.4(SBF2):c.3198G>T (p.Gly1066=)
|
rs150130142
|
|
NM_030962.4(SBF2):c.3200C>A (p.Thr1067Lys)
|
|
|
NM_030962.4(SBF2):c.3214A>G (p.Arg1072Gly)
|
|
|
NM_030962.4(SBF2):c.3226C>G (p.Pro1076Ala)
|
|
|
NM_030962.4(SBF2):c.3229G>A (p.Gly1077Arg)
|
rs761048786
|
|
NM_030962.4(SBF2):c.3231A>G (p.Gly1077=)
|
rs199985349
|
|
NM_030962.4(SBF2):c.3250G>A (p.Val1084Ile)
|
rs1331366931
|
|
NM_030962.4(SBF2):c.3256+12C>T
|
|
|
NM_030962.4(SBF2):c.3256+8A>C
|
rs1856241835
|
|
NM_030962.4(SBF2):c.3257-10A>G
|
rs1348371983
|
|
NM_030962.4(SBF2):c.3257-16_3257-15del
|
|
|
NM_030962.4(SBF2):c.3257-18C>G
|
|
|
NM_030962.4(SBF2):c.3257-1G>A
|
|
|
NM_030962.4(SBF2):c.3257-69_3282del
|
rs1855973417
|
|
NM_030962.4(SBF2):c.3257-8C>A
|
rs1855976609
|
|
NM_030962.4(SBF2):c.3257-9C>T
|
|
|
NM_030962.4(SBF2):c.3261A>C (p.Ser1087=)
|
|
|
NM_030962.4(SBF2):c.3278C>G (p.Pro1093Arg)
|
rs762973514
|
|
NM_030962.4(SBF2):c.3279C>T (p.Pro1093=)
|
|
|
NM_030962.4(SBF2):c.3288C>T (p.Thr1096=)
|
rs2942403
|
|
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3292C>T (p.Leu1098=)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3298G>A (p.Ala1100Thr)
|
rs1855971560
|
|
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
|
|
|
NM_030962.4(SBF2):c.3322C>G (p.Gln1108Glu)
|
rs1855969532
|
|
NM_030962.4(SBF2):c.3329T>C (p.Val1110Ala)
|
|
|
NM_030962.4(SBF2):c.332A>C (p.Gln111Pro)
|
rs1949239187
|
|
NM_030962.4(SBF2):c.3336del (p.Ala1113fs)
|
|
|
NM_030962.4(SBF2):c.3340T>G (p.Cys1114Gly)
|
|
|
NM_030962.4(SBF2):c.3357G>A (p.Gln1119=)
|
|
|
NM_030962.4(SBF2):c.3376A>G (p.Ile1126Val)
|
rs747669195
|
|
NM_030962.4(SBF2):c.3379A>T (p.Ser1127Cys)
|
rs1167884517
|
|
NM_030962.4(SBF2):c.3382G>A (p.Gly1128Ser)
|
rs1474699941
|
|
NM_030962.4(SBF2):c.3392C>A (p.Ser1131Tyr)
|
|
|
NM_030962.4(SBF2):c.3395G>A (p.Arg1132His)
|
|
|
NM_030962.4(SBF2):c.3428C>T (p.Ser1143Phe)
|
rs2133952172
|
|
NM_030962.4(SBF2):c.344T>G (p.Val115Gly)
|
|
|
NM_030962.4(SBF2):c.3450C>T (p.Cys1150=)
|
rs377608130
|
|
NM_030962.4(SBF2):c.3455+20C>T
|
rs760955204
|
|
NM_030962.4(SBF2):c.3456-12A>G
|
|
|
NM_030962.4(SBF2):c.3456-12_3456-11del
|
|
|
NM_030962.4(SBF2):c.3456-18T>C
|
|
|
NM_030962.4(SBF2):c.3456-19C>T
|
|
|
NM_030962.4(SBF2):c.3456-22_3456-18del
|
rs751512324
|
|
NM_030962.4(SBF2):c.3457T>C (p.Tyr1153His)
|
rs1060499998
|
|
NM_030962.4(SBF2):c.3469T>A (p.Leu1157Ile)
|
rs2133937354
|
|
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
|
|
|
NM_030962.4(SBF2):c.3479C>T (p.Pro1160Leu)
|
rs1233967178
|
|
NM_030962.4(SBF2):c.3483A>G (p.Gln1161=)
|
|
|
NM_030962.4(SBF2):c.348T>G (p.Phe116Leu)
|
rs1949238558
|
|
NM_030962.4(SBF2):c.3501T>C (p.Ser1167=)
|
|
|
NM_030962.4(SBF2):c.3505C>A (p.Pro1169Thr)
|
rs535680998
|
|
NM_030962.4(SBF2):c.3507A>G (p.Pro1169=)
|
|
|
NM_030962.4(SBF2):c.3522C>T (p.Cys1174=)
|
|
|
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu)
|
rs1949238001
|
|
NM_030962.4(SBF2):c.3540G>A (p.Leu1180=)
|
|
|
NM_030962.4(SBF2):c.3547G>T (p.Val1183Leu)
|
rs2133937176
|
|
NM_030962.4(SBF2):c.3550T>C (p.Cys1184Arg)
|
rs762738168
|
|
NM_030962.4(SBF2):c.3576T>G (p.Thr1192=)
|
rs779580044
|
|
NM_030962.4(SBF2):c.3579G>C (p.Leu1193=)
|
rs2133937125
|
|
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138
|
|
NM_030962.4(SBF2):c.3587G>A (p.Arg1196Gln)
|
rs376309876
|
|
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg)
|
rs869312970
|
|
NM_030962.4(SBF2):c.3609G>A (p.Lys1203=)
|
|
|
NM_030962.4(SBF2):c.3611G>T (p.Gly1204Val)
|
rs781282456
|
|
NM_030962.4(SBF2):c.3618T>C (p.Val1206=)
|
rs1855446145
|
|
NM_030962.4(SBF2):c.3632C>G (p.Ser1211Cys)
|
rs1356162033
|
|
NM_030962.4(SBF2):c.3642C>T (p.Ser1214=)
|
rs2133937017
|
|
NM_030962.4(SBF2):c.3644C>G (p.Pro1215Arg)
|
rs1855445153
|
|
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
|
|
|
NM_030962.4(SBF2):c.3652+13C>G
|
|
|
NM_030962.4(SBF2):c.3652+1G>C
|
|
|
NM_030962.4(SBF2):c.3652+5G>A
|
rs199502044
|
|
NM_030962.4(SBF2):c.3652+9CT[2]
|
rs376260584
|
|
NM_030962.4(SBF2):c.3653-15A>G
|
|
|
NM_030962.4(SBF2):c.3653-19A>C
|
rs1855259655
|
|
NM_030962.4(SBF2):c.3656C>T (p.Pro1219Leu)
|
|
|
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile)
|
rs1439541685
|
|
NM_030962.4(SBF2):c.3673T>A (p.Ser1225Thr)
|
|
|
NM_030962.4(SBF2):c.3674C>A (p.Ser1225Tyr)
|
rs759215256
|
|
NM_030962.4(SBF2):c.3674_3691dup (p.Glu1230_Gln1231insProSerSerSerIleGlu)
|
rs2133931845
|
|
NM_030962.4(SBF2):c.3712T>A (p.Leu1238Ile)
|
rs1564890006
|
|
NM_030962.4(SBF2):c.3720T>C (p.Asn1240=)
|
|
|
NM_030962.4(SBF2):c.3722C>A (p.Ala1241Asp)
|
rs779174513
|
|
NM_030962.4(SBF2):c.3734A>G (p.His1245Arg)
|
rs2133931756
|
|
NM_030962.4(SBF2):c.3741A>T (p.Lys1247Asn)
|
rs1855252886
|
|
NM_030962.4(SBF2):c.3745A>G (p.Arg1249Gly)
|
rs1554914278
|
|
NM_030962.4(SBF2):c.3759T>G (p.Thr1253=)
|
|
|
NM_030962.4(SBF2):c.3761T>A (p.Leu1254His)
|
|
|
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro)
|
rs762211340
|
|
NM_030962.4(SBF2):c.3777C>A (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3777C>G (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3784C>T (p.Leu1262=)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3793+10G>A
|
|
|
NM_030962.4(SBF2):c.3793+14A>G
|
rs2133931561
|
|
NM_030962.4(SBF2):c.3793+14_3793+16del
|
rs773684325
|
|
NM_030962.4(SBF2):c.3793+17C>A
|
rs755950037
|
|
NM_030962.4(SBF2):c.3793+17C>T
|
|
|
NM_030962.4(SBF2):c.3794-11C>T
|
|
|
NM_030962.4(SBF2):c.379T>C (p.Leu127=)
|
|
|
NM_030962.4(SBF2):c.3804A>C (p.Ala1268=)
|
|
|
NM_030962.4(SBF2):c.3812G>T (p.Arg1271Leu)
|
rs201249004
|
|
NM_030962.4(SBF2):c.3823C>G (p.Arg1275Gly)
|
rs956737183
|
|
NM_030962.4(SBF2):c.3837T>G (p.Ser1279=)
|
rs1554909254
|
|
NM_030962.4(SBF2):c.3840A>G (p.Pro1280=)
|
|
|
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)
|
rs869312963
|
|
NM_030962.4(SBF2):c.3866G>T (p.Arg1289Leu)
|
rs757836523
|
|
NM_030962.4(SBF2):c.3871G>C (p.Ala1291Pro)
|
rs1488414945
|
|
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
|
|
|
NM_030962.4(SBF2):c.387T>C (p.Tyr129=)
|
rs1590797444
|
|
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)
|
rs375669985
|
|
NM_030962.4(SBF2):c.389C>T (p.Pro130Leu)
|
rs1201147678
|
|
NM_030962.4(SBF2):c.38A>C (p.Tyr13Ser)
|
rs1591380986
|
|
NM_030962.4(SBF2):c.38A>T (p.Tyr13Phe)
|
|
|
NM_030962.4(SBF2):c.3902A>G (p.Asn1301Ser)
|
rs1429630644
|
|
NM_030962.4(SBF2):c.3925C>T (p.Leu1309Phe)
|
rs1564879807
|
|
NM_030962.4(SBF2):c.3938A>G (p.Gln1313Arg)
|
rs1554909178
|
|
NM_030962.4(SBF2):c.3945C>G (p.Ala1315=)
|
|
|
NM_030962.4(SBF2):c.394A>G (p.Ile132Val)
|
|
|
NM_030962.4(SBF2):c.3956T>G (p.Phe1319Cys)
|
rs2133911307
|
|
NM_030962.4(SBF2):c.3969G>T (p.Ser1323=)
|
rs77833016
|
|
NM_030962.4(SBF2):c.3975A>G (p.Leu1325=)
|
|
|
NM_030962.4(SBF2):c.3979-2A>G
|
|
|
NM_030962.4(SBF2):c.3979-4G>A
|
rs375742620
|
|
NM_030962.4(SBF2):c.3979-4G>T
|
rs375742620
|
|
NM_030962.4(SBF2):c.3979-5C>T
|
|
|
NM_030962.4(SBF2):c.3979-9C>T
|
|
|
NM_030962.4(SBF2):c.402+11_402+21del
|
|
|
NM_030962.4(SBF2):c.402+12_402+13insAAAAAATG
|
|
|
NM_030962.4(SBF2):c.402+14A>G
|
|
|
NM_030962.4(SBF2):c.402+15G>C
|
|
|
NM_030962.4(SBF2):c.402+16T>C
|
|
|
NM_030962.4(SBF2):c.403-11T>C
|
|
|
NM_030962.4(SBF2):c.403-12A>T
|
|
|
NM_030962.4(SBF2):c.403-13T>C
|
|
|
NM_030962.4(SBF2):c.403-4G>C
|
|
|
NM_030962.4(SBF2):c.403-5del
|
|
|
NM_030962.4(SBF2):c.4052C>A (p.Ala1351Asp)
|
rs2133904474
|
|
NM_030962.4(SBF2):c.405T>C (p.Ala135=)
|
|
|
NM_030962.4(SBF2):c.4067T>C (p.Leu1356Pro)
|
rs1854252785
|
|
NM_030962.4(SBF2):c.4074G>A (p.Arg1358=)
|
|
|
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
|
|
|
NM_030962.4(SBF2):c.4094T>G (p.Ile1365Ser)
|
|
|
NM_030962.4(SBF2):c.4111G>A (p.Val1371Met)
|
rs149501654
|
|
NM_030962.4(SBF2):c.411G>T (p.Leu137=)
|
rs1949191944
|
|
NM_030962.4(SBF2):c.4121T>G (p.Leu1374Arg)
|
rs1854248122
|
|
NM_030962.4(SBF2):c.412G>C (p.Gly138Arg)
|
|
|
NM_030962.4(SBF2):c.4133G>A (p.Gly1378Glu)
|
rs1854247198
|
|
NM_030962.4(SBF2):c.4137T>C (p.Asp1379=)
|
|
|
NM_030962.4(SBF2):c.4146G>C (p.Trp1382Cys)
|
rs1854246275
|
|
NM_030962.4(SBF2):c.4155+16G>C
|
|
|
NM_030962.4(SBF2):c.4155+7T>C
|
|
|
NM_030962.4(SBF2):c.4156-15_4156-5del
|
rs745522461
|
|
NM_030962.4(SBF2):c.4156-4T>C
|
|
|
NM_030962.4(SBF2):c.4156-7C>G
|
rs2133898233
|
|
NM_030962.4(SBF2):c.4156-9G>A
|
rs2133898236
|
|
NM_030962.4(SBF2):c.415T>G (p.Leu139Val)
|
rs146361949
|
|
NM_030962.4(SBF2):c.4161C>T (p.His1387=)
|
|
|
NM_030962.4(SBF2):c.4162A>C (p.Arg1388=)
|
rs1854010179
|
|
NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)
|
|
|
NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)
|
|
|
NM_030962.4(SBF2):c.417G>A (p.Leu139=)
|
|
|
NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)
|
|
|
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
|
|
|
NM_030962.4(SBF2):c.4203G>C (p.Glu1401Asp)
|
rs750353766
|
|
NM_030962.4(SBF2):c.4209T>C (p.Gly1403=)
|
|
|
NM_030962.4(SBF2):c.420C>A (p.Ile140=)
|
|
|
NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)
|
|
|
NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)
|
|
|
NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)
|
|
|
NM_030962.4(SBF2):c.4257+14C>T
|
rs771419758
|
|
NM_030962.4(SBF2):c.4257+17del
|
|
|
NM_030962.4(SBF2):c.4257+20T>C
|
|
|
NM_030962.4(SBF2):c.4258-18A>T
|
|
|
NM_030962.4(SBF2):c.4258-20C>G
|
rs1324228041
|
|
NM_030962.4(SBF2):c.4260G>T (p.Val1420=)
|
|
|
NM_030962.4(SBF2):c.426C>T (p.Thr142=)
|
|
|
NM_030962.4(SBF2):c.4279C>T (p.Leu1427Phe)
|
rs760329902
|
|
NM_030962.4(SBF2):c.4282A>G (p.Ser1428Gly)
|
rs2133896771
|
|
NM_030962.4(SBF2):c.4283G>T (p.Ser1428Ile)
|
rs1853958713
|
|
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
|
|
|
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
|
|
|
NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)
|
|
|
NM_030962.4(SBF2):c.4347T>C (p.Phe1449=)
|
|
|
NM_030962.4(SBF2):c.4351C>G (p.His1451Asp)
|
rs2133896649
|
|
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
|
|
|
NM_030962.4(SBF2):c.4368G>A (p.Arg1456=)
|
|
|
NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)
|
|
|
NM_030962.4(SBF2):c.4395G>A (p.Gly1465=)
|
|
|
NM_030962.4(SBF2):c.43C>T (p.His15Tyr)
|
rs1324706227
|
|
NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)
|
|
|
NM_030962.4(SBF2):c.4420C>G (p.Gln1474Glu)
|
rs1590130857
|
|
NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)
|
|
|
NM_030962.4(SBF2):c.4443+13A>T
|
|
|
NM_030962.4(SBF2):c.4443+14G>T
|
|
|
NM_030962.4(SBF2):c.4443+18G>C
|
|
|
NM_030962.4(SBF2):c.4443+19A>T
|
|
|
NM_030962.4(SBF2):c.4443+1G>A
|
rs1564872328
|
|
NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)
|
|
|
NM_030962.4(SBF2):c.4465G>A (p.Glu1489Lys)
|
rs864622502
|
|
NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)
|
|
|
NM_030962.4(SBF2):c.4491A>G (p.Leu1497=)
|
|
|
NM_030962.4(SBF2):c.4510T>G (p.Tyr1504Asp)
|
rs1853093188
|
|
NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)
|
|
|
NM_030962.4(SBF2):c.4522C>G (p.Arg1508Gly)
|
rs141108330
|
|
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=)
|
rs756073763
|
|
NM_030962.4(SBF2):c.4564G>C (p.Glu1522Gln)
|
rs1853090043
|
|
NM_030962.4(SBF2):c.456G>A (p.Leu152=)
|
rs1949189908
|
|
NM_030962.4(SBF2):c.4570+13A>T
|
rs945495130
|
|
NM_030962.4(SBF2):c.4570+14T>C
|
|
|
NM_030962.4(SBF2):c.4570+19T>C
|
|
|
NM_030962.4(SBF2):c.4570+20T>C
|
|
|
NM_030962.4(SBF2):c.4571-10T>A
|
|
|
NM_030962.4(SBF2):c.4571-18G>T
|
|
|
NM_030962.4(SBF2):c.4571-1G>A
|
rs2133861770
|
|
NM_030962.4(SBF2):c.4592G>A (p.Gly1531Glu)
|
|
|
NM_030962.4(SBF2):c.45C>G (p.His15Gln)
|
rs1964352895
|
|
NM_030962.4(SBF2):c.4603G>A (p.Ala1535Thr)
|
rs546392558
|
|
NM_030962.4(SBF2):c.4611A>G (p.Lys1537=)
|
rs930093275
|
|
NM_030962.4(SBF2):c.463C>T (p.Leu155=)
|
|
|
NM_030962.4(SBF2):c.4664T>G (p.Phe1555Cys)
|
rs1852677610
|
|
NM_030962.4(SBF2):c.4675T>G (p.Leu1559Val)
|
|
|
NM_030962.4(SBF2):c.4681T>G (p.Ser1561Ala)
|
rs1453584782
|
|
NM_030962.4(SBF2):c.4698+10G>A
|
rs768677228
|
|
NM_030962.4(SBF2):c.4698+1del
|
rs2133861507
|
|
NM_030962.4(SBF2):c.4698+6G>A
|
rs1852674371
|
|
NM_030962.4(SBF2):c.4699-14G>C
|
rs945573981
|
|
NM_030962.4(SBF2):c.4699-16C>G
|
|
|
NM_030962.4(SBF2):c.4699-1G>T
|
|
|
NM_030962.4(SBF2):c.4701T>G (p.Ala1567=)
|
rs750656969
|
|
NM_030962.4(SBF2):c.4702C>T (p.Leu1568=)
|
|
|
NM_030962.4(SBF2):c.4704A>G (p.Leu1568=)
|
rs1590087815
|
|
NM_030962.4(SBF2):c.4709C>G (p.Pro1570Arg)
|
|
|
NM_030962.4(SBF2):c.4710C>G (p.Pro1570=)
|
|
|
NM_030962.4(SBF2):c.4712A>T (p.Asn1571Ile)
|
rs371960255
|
|
NM_030962.4(SBF2):c.4713T>C (p.Asn1571=)
|
|
|
NM_030962.4(SBF2):c.4716A>G (p.Val1572=)
|
rs1205440223
|
|
NM_030962.4(SBF2):c.4735A>C (p.Lys1579Gln)
|
rs2133858789
|
|
NM_030962.4(SBF2):c.4737G>A (p.Lys1579=)
|
rs2133858788
|
|
NM_030962.4(SBF2):c.4785C>G (p.Asp1595Glu)
|
|
|
NM_030962.4(SBF2):c.4799C>G (p.Thr1600Ser)
|
rs183468503
|
|
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe)
|
rs1214507322
|
|
NM_030962.4(SBF2):c.4803C>A (p.Pro1601=)
|
|
|
NM_030962.4(SBF2):c.4817C>G (p.Ser1606Cys)
|
|
|
NM_030962.4(SBF2):c.4840G>A (p.Glu1614Lys)
|
rs1852578314
|
|
NM_030962.4(SBF2):c.4881C>T (p.Cys1627=)
|
rs2133858474
|
|
NM_030962.4(SBF2):c.4890T>A (p.Asp1630Glu)
|
rs963997810
|
|
NM_030962.4(SBF2):c.4913C>G (p.Ala1638Gly)
|
rs758932167
|
|
NM_030962.4(SBF2):c.4919C>A (p.Thr1640Asn)
|
rs1284170057
|
|
NM_030962.4(SBF2):c.4926T>C (p.Leu1642=)
|
|
|
NM_030962.4(SBF2):c.492C>G (p.Val164=)
|
rs559769224
|
|
NM_030962.4(SBF2):c.4932+12G>A
|
|
|
NM_030962.4(SBF2):c.4933-13_4933-9del
|
rs767990042
|
|
NM_030962.4(SBF2):c.4933-1G>A
|
|
|
NM_030962.4(SBF2):c.4933-20A>G
|
|
|
NM_030962.4(SBF2):c.494C>T (p.Pro165Leu)
|
rs1949187604
|
|
NM_030962.4(SBF2):c.4967C>T (p.Ala1656Val)
|
rs139634638
|
|
NM_030962.4(SBF2):c.4968C>T (p.Ala1656=)
|
|
|
NM_030962.4(SBF2):c.497C>T (p.Ala166Val)
|
|
|
NM_030962.4(SBF2):c.4983G>A (p.Gln1661=)
|
|
|
NM_030962.4(SBF2):c.498G>A (p.Ala166=)
|
|
|
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5010C>A (p.Asp1670Glu)
|
rs142672124
|
|
NM_030962.4(SBF2):c.5016A>G (p.Lys1672=)
|
rs1564852595
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_030962.4(SBF2):c.5022A>G (p.Glu1674=)
|
|
|
NM_030962.4(SBF2):c.5024C>G (p.Pro1675Arg)
|
rs1852460091
|
|
NM_030962.4(SBF2):c.5030C>T (p.Thr1677Ile)
|
rs760027294
|
|
NM_030962.4(SBF2):c.5034T>C (p.Asp1678=)
|
rs771306445
|
|
NM_030962.4(SBF2):c.5037+11A>C
|
|
|
NM_030962.4(SBF2):c.5037+14_5037+19dup
|
rs759123434
|
|
NM_030962.4(SBF2):c.5037+1G>A
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5037+1G>C
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5038-11_5038-8del
|
rs1189608485
|
|
NM_030962.4(SBF2):c.5038-16G>T
|
|
|
NM_030962.4(SBF2):c.5038-18C>T
|
|
|
NM_030962.4(SBF2):c.5038-2A>G
|
rs2133850270
|
|
NM_030962.4(SBF2):c.5038-9C>G
|
rs1453213030
|
|
NM_030962.4(SBF2):c.5038-9C>T
|
rs1453213030
|
|
NM_030962.4(SBF2):c.5067A>T (p.Gly1689=)
|
|
|
NM_030962.4(SBF2):c.506G>A (p.Gly169Glu)
|
rs1949186665
|
|
NM_030962.4(SBF2):c.5077A>T (p.Thr1693Ser)
|
rs935208245
|
|
NM_030962.4(SBF2):c.5102G>A (p.Arg1701Lys)
|
rs914679014
|
|
NM_030962.4(SBF2):c.5118C>G (p.Leu1706=)
|
|
|
NM_030962.4(SBF2):c.513+10A>G
|
|
|
NM_030962.4(SBF2):c.513+4A>G
|
rs1554990552
|
|
NM_030962.4(SBF2):c.5135G>T (p.Gly1712Val)
|
rs757214892
|
|
NM_030962.4(SBF2):c.5139G>A (p.Glu1713=)
|
|
|
NM_030962.4(SBF2):c.514-12C>A
|
rs770141264
|
|
NM_030962.4(SBF2):c.514-9A>G
|
rs906365170
|
|
NM_030962.4(SBF2):c.5149T>C (p.Ser1717Pro)
|
|
|
NM_030962.4(SBF2):c.5167A>G (p.Asn1723Asp)
|
|
|
NM_030962.4(SBF2):c.5169T>C (p.Asn1723=)
|
rs1452599195
|
|
NM_030962.4(SBF2):c.5187A>G (p.Ala1729=)
|
|
|
NM_030962.4(SBF2):c.5192C>T (p.Thr1731Met)
|
|
|
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)
|
rs1334739235
|
|
NM_030962.4(SBF2):c.5200A>C (p.Ser1734Arg)
|
rs1411871638
|
|
NM_030962.4(SBF2):c.5202C>T (p.Ser1734=)
|
|
|
NM_030962.4(SBF2):c.5204A>T (p.Gln1735Leu)
|
rs2133849923
|
|
NM_030962.4(SBF2):c.5205G>C (p.Gln1735His)
|
rs878855131
|
|
NM_030962.4(SBF2):c.5209A>T (p.Thr1737Ser)
|
rs1564850356
|
|
NM_030962.4(SBF2):c.5213C>G (p.Ser1738Cys)
|
rs2133849900
|
|
NM_030962.4(SBF2):c.5223T>C (p.Asp1741=)
|
|
|
NM_030962.4(SBF2):c.5232-4C>G
|
|
|
NM_030962.4(SBF2):c.5249T>C (p.Leu1750Pro)
|
rs1852233208
|
|
NM_030962.4(SBF2):c.5250_5251del (p.Leu1750_Tyr1751insTer)
|
|
|
NM_030962.4(SBF2):c.5258G>A (p.Arg1753Lys)
|
rs1852232500
|
|
NM_030962.4(SBF2):c.525T>C (p.Ser175=)
|
rs2134627335
|
|
NM_030962.4(SBF2):c.5277T>C (p.Gly1759=)
|
rs774505575
|
|
NM_030962.4(SBF2):c.527T>C (p.Leu176Ser)
|
rs1554990128
|
|
NM_030962.4(SBF2):c.5285C>T (p.Pro1762Leu)
|
rs1051248230
|
|
NM_030962.4(SBF2):c.5291G>C (p.Trp1764Ser)
|
|
|
NM_030962.4(SBF2):c.5319+13A>C
|
|
|
NM_030962.4(SBF2):c.5319+18A>G
|
rs577375809
|
|
NM_030962.4(SBF2):c.5319+6dup
|
rs2133848257
|
|
NM_030962.4(SBF2):c.5319+9C>G
|
rs539959164
|
|
NM_030962.4(SBF2):c.5320-10T>C
|
|
|
NM_030962.4(SBF2):c.5320-13C>T
|
|
|
NM_030962.4(SBF2):c.5320-9dup
|
|
|
NM_030962.4(SBF2):c.5354G>A (p.Cys1785Tyr)
|
|
|
NM_030962.4(SBF2):c.536G>A (p.Gly179Glu)
|
|
|
NM_030962.4(SBF2):c.5371C>T (p.Leu1791=)
|
rs2133841818
|
|
NM_030962.4(SBF2):c.5375C>G (p.Ala1792Gly)
|
rs1554897834
|
|
NM_030962.4(SBF2):c.5375C>T (p.Ala1792Val)
|
rs1554897834
|
|
NM_030962.4(SBF2):c.5398G>A (p.Ala1800Thr)
|
rs1852008750
|
|
NM_030962.4(SBF2):c.5399C>A (p.Ala1800Asp)
|
|
|
NM_030962.4(SBF2):c.5400T>C (p.Ala1800=)
|
|
|
NM_030962.4(SBF2):c.5435A>G (p.Asp1812Gly)
|
rs1852006389
|
|
NM_030962.4(SBF2):c.5437A>G (p.Lys1813Glu)
|
rs1590068012
|
|
NM_030962.4(SBF2):c.5438A>C (p.Lys1813Thr)
|
rs1852006110
|
|
NM_030962.4(SBF2):c.5440G>T (p.Ala1814Ser)
|
rs1852005955
|
|
NM_030962.4(SBF2):c.5451+10T>C
|
|
|
NM_030962.4(SBF2):c.5451+14_5451+17del
|
rs1326251358
|
|
NM_030962.4(SBF2):c.5451+3_5451+6dup
|
rs1428808794
|
|
NM_030962.4(SBF2):c.5451+8G>C
|
rs948210964
|
|
NM_030962.4(SBF2):c.5452-13T>C
|
|
|
NM_030962.4(SBF2):c.5452-16T>C
|
|
|
NM_030962.4(SBF2):c.5470G>A (p.Val1824Met)
|
rs1851934295
|
|
NM_030962.4(SBF2):c.5472G>A (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.5472G>C (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg)
|
rs763965438
|
|
NM_030962.4(SBF2):c.55+13G>A
|
|
|
NM_030962.4(SBF2):c.55+7G>A
|
rs2133630493
|
|
NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)
|
|
|
NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs)
|
rs1293444505
|
|
NM_030962.4(SBF2):c.5547C>A (p.Ala1849=)
|
|
|
NM_030962.4(SBF2):c.555G>C (p.Gln185His)
|
rs1254270693
|
|
NM_030962.4(SBF2):c.56-1G>A
|
rs2135330973
|
|
NM_030962.4(SBF2):c.564A>G (p.Leu188=)
|
|
|
NM_030962.4(SBF2):c.565C>T (p.His189Tyr)
|
rs1280211892
|
|
NM_030962.4(SBF2):c.568G>A (p.Asp190Asn)
|
rs201738577
|
|
NM_030962.4(SBF2):c.574C>G (p.Leu192Val)
|
rs1949129969
|
|
NM_030962.4(SBF2):c.595G>A (p.Val199Met)
|
|
|
NM_030962.4(SBF2):c.600T>G (p.Ala200=)
|
rs770433606
|
|
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter)
|
rs141133392
|
|
NM_030962.4(SBF2):c.611A>G (p.Gln204Arg)
|
rs2134626742
|
|
NM_030962.4(SBF2):c.612G>A (p.Gln204=)
|
rs1554990046
|
|
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
|
|
|
NM_030962.4(SBF2):c.614A>C (p.Gln205Pro)
|
rs1949128392
|
|
NM_030962.4(SBF2):c.615A>G (p.Gln205=)
|
|
|
NM_030962.4(SBF2):c.616T>C (p.Leu206=)
|
rs1590791206
|
|
NM_030962.4(SBF2):c.619+18T>C
|
|
|
NM_030962.4(SBF2):c.619+6T>A
|
|
|
NM_030962.4(SBF2):c.61G>A (p.Gly21Arg)
|
rs774844294
|
|
NM_030962.4(SBF2):c.620-10dup
|
rs1948023557
|
|
NM_030962.4(SBF2):c.626A>C (p.Gln209Pro)
|
|
|
NM_030962.4(SBF2):c.636C>T (p.Leu212=)
|
|
|
NM_030962.4(SBF2):c.651A>C (p.Ala217=)
|
rs200293270
|
|
NM_030962.4(SBF2):c.673C>T (p.Leu225Phe)
|
|
|
NM_030962.4(SBF2):c.674T>C (p.Leu225Pro)
|
|
|
NM_030962.4(SBF2):c.675C>G (p.Leu225=)
|
rs2134514191
|
|
NM_030962.4(SBF2):c.699A>G (p.Arg233=)
|
|
|
NM_030962.4(SBF2):c.6C>G (p.Ala2=)
|
rs1311980728
|
|
NM_030962.4(SBF2):c.700C>T (p.Leu234Phe)
|
rs749378136
|
|
NM_030962.4(SBF2):c.716G>A (p.Arg239Lys)
|
|
|
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
|
|
|
NM_030962.4(SBF2):c.727T>A (p.Ser243Thr)
|
|
|
NM_030962.4(SBF2):c.728C>A (p.Ser243Tyr)
|
rs2134513972
|
|
NM_030962.4(SBF2):c.735G>A (p.Met245Ile)
|
rs1554981022
|
|
NM_030962.4(SBF2):c.745A>G (p.Lys249Glu)
|
|
|
NM_030962.4(SBF2):c.747A>G (p.Lys249=)
|
rs1554981019
|
|
NM_030962.4(SBF2):c.752+12A>G
|
|
|
NM_030962.4(SBF2):c.753-10T>C
|
rs2134507238
|
|
NM_030962.4(SBF2):c.753-16T>C
|
rs7128234
|
|
NM_030962.4(SBF2):c.753-18T>C
|
|
|
NM_030962.4(SBF2):c.753-4C>G
|
|
|
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs)
|
rs1565115957
|
|
NM_030962.4(SBF2):c.75G>A (p.Gly25=)
|
rs1279874044
|
|
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr)
|
rs879253987
|
|
NM_030962.4(SBF2):c.767C>G (p.Pro256Arg)
|
rs1947932193
|
|
NM_030962.4(SBF2):c.76A>G (p.Lys26Glu)
|
|
|
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
|
|
|
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
|
|
|
NM_030962.4(SBF2):c.782A>G (p.Gln261Arg)
|
|
|
NM_030962.4(SBF2):c.791A>G (p.Glu264Gly)
|
rs928271143
|
|
NM_030962.4(SBF2):c.793G>T (p.Val265Phe)
|
rs1655963955
|
|
NM_030962.4(SBF2):c.796C>G (p.Leu266Val)
|
rs1565116051
|
|
NM_030962.4(SBF2):c.804C>T (p.Ser268=)
|
rs763567646
|
|
NM_030962.4(SBF2):c.810G>T (p.Thr270=)
|
rs769963369
|
|
NM_030962.4(SBF2):c.819T>C (p.Ile273=)
|
rs1947929110
|
|
NM_030962.4(SBF2):c.820A>G (p.Ile274Val)
|
|
|
NM_030962.4(SBF2):c.861+5G>C
|
rs879253963
|
|
NM_030962.4(SBF2):c.861+9T>G
|
rs1947927028
|
|
NM_030962.4(SBF2):c.862-12T>A
|
|
|
NM_030962.4(SBF2):c.862-12dup
|
rs766293143
|
|
NM_030962.4(SBF2):c.862-15T>C
|
|
|
NM_030962.4(SBF2):c.873C>T (p.Ile291=)
|
rs2134496815
|
|
NM_030962.4(SBF2):c.873_875del (p.Ile292del)
|
rs2134496803
|
|
NM_030962.4(SBF2):c.883T>A (p.Leu295Met)
|
|
|
NM_030962.4(SBF2):c.887A>T (p.Asp296Val)
|
|
|
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys)
|
rs781039677
|
|
NM_030962.4(SBF2):c.910G>C (p.Glu304Gln)
|
rs781039677
|
|
NM_030962.4(SBF2):c.931C>T (p.Leu311Phe)
|
|
|
NM_030962.4(SBF2):c.933C>A (p.Leu311=)
|
|
|
NM_030962.4(SBF2):c.935C>T (p.Pro312Leu)
|
rs1947799030
|
|
NM_030962.4(SBF2):c.948A>C (p.Leu316=)
|
rs772340409
|
|
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
|
|
|
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)
|
|
|
NM_030962.4(SBF2):c.975+10A>G
|
|
|
NM_030962.4(SBF2):c.975+8A>G
|
rs371861993
|
|
NM_030962.4(SBF2):c.981A>G (p.Leu327=)
|
|
|
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)
|
|
|
NM_030962.4(SBF2):c.989A>G (p.Asp330Gly)
|
|
|
NM_030973.4(MED25):c.1014A>G (p.Pro338=)
|
rs1034116832
|
|
NM_030973.4(MED25):c.1025C>T (p.Ser342Phe)
|
rs1600325791
|
|
NM_030973.4(MED25):c.1026C>G (p.Ser342=)
|
rs1600325797
|
|
NM_030973.4(MED25):c.102G>A (p.Gly34=)
|
rs755369870
|
|
NM_030973.4(MED25):c.102G>T (p.Gly34=)
|
rs755369870
|
|
NM_030973.4(MED25):c.102del (p.Leu35fs)
|
rs2073953986
|
|
NM_030973.4(MED25):c.1038G>A (p.Leu346=)
|
|
|
NM_030973.4(MED25):c.1041C>T (p.Val347=)
|
rs1555802298
|
|
NM_030973.4(MED25):c.1048G>A (p.Val350Met)
|
|
|
NM_030973.4(MED25):c.1060T>C (p.Ser354Pro)
|
rs2123880302
|
|
NM_030973.4(MED25):c.1065C>A (p.Gly355=)
|
rs779070350
|
|
NM_030973.4(MED25):c.1068G>A (p.Leu356=)
|
rs2074050942
|
|
NM_030973.4(MED25):c.1077G>A (p.Thr359=)
|
|
|
NM_030973.4(MED25):c.1078G>A (p.Ala360Thr)
|
|
|
NM_030973.4(MED25):c.1079C>G (p.Ala360Gly)
|
rs2123880339
|
|
NM_030973.4(MED25):c.107G>A (p.Arg36His)
|
rs1555800954
|
|
NM_030973.4(MED25):c.107G>T (p.Arg36Leu)
|
rs1555800954
|
|
NM_030973.4(MED25):c.1097C>G (p.Ser366Cys)
|
|
|
NM_030973.4(MED25):c.1101+14C>T
|
|
|
NM_030973.4(MED25):c.1101+15G>A
|
|
|
NM_030973.4(MED25):c.1101+24_1101+42dup
|
rs564179307
|
|
NM_030973.4(MED25):c.1101+8C>T
|
|
|
NM_030973.4(MED25):c.1102-13T>G
|
|
|
NM_030973.4(MED25):c.1102-14C>T
|
rs748971798
|
|
NM_030973.4(MED25):c.1102-4G>T
|
|
|
NM_030973.4(MED25):c.1107C>T (p.Gly369=)
|
rs1450112631
|
|
NM_030973.4(MED25):c.1116C>G (p.Ala372=)
|
|
|
NM_030973.4(MED25):c.1128G>A (p.Val376=)
|
|
|
NM_030973.4(MED25):c.112C>T (p.His38Tyr)
|
|
|
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
|
|
|
NM_030973.4(MED25):c.1133G>A (p.Gly378Asp)
|
rs1600326536
|
|
NM_030973.4(MED25):c.1148_1165del (p.Gln383_Ala388del)
|
rs765219800
|
|
NM_030973.4(MED25):c.1148_1165dup (p.Gln383_Ala388dup)
|
rs765219800
|
|
NM_030973.4(MED25):c.114C>T (p.His38=)
|
rs2073954243
|
|
NM_030973.4(MED25):c.1150C>G (p.Leu384Val)
|
rs1248219304
|
|
NM_030973.4(MED25):c.1160C>G (p.Pro387Arg)
|
rs1433808506
|
|
NM_030973.4(MED25):c.1179G>C (p.Gln393His)
|
rs951202638
|
|
NM_030973.4(MED25):c.1188C>T (p.Ser396=)
|
|
|
NM_030973.4(MED25):c.1198C>T (p.Leu400=)
|
rs778576788
|
|
NM_030973.4(MED25):c.1201G>A (p.Ala401Thr)
|
rs1219247533
|
|
NM_030973.4(MED25):c.1202C>T (p.Ala401Val)
|
rs868663771
|
|
NM_030973.4(MED25):c.1203C>T (p.Ala401=)
|
rs1322031888
|
|
NM_030973.4(MED25):c.1230+12G>C
|
|
|
NM_030973.4(MED25):c.1230+20A>G
|
|
|
NM_030973.4(MED25):c.1230+5G>C
|
rs2074057180
|
|
NM_030973.4(MED25):c.1230+6G>A
|
rs2074057196
|
|
NM_030973.4(MED25):c.1230+7G>A
|
|
|
NM_030973.4(MED25):c.1231-16C>T
|
|
|
NM_030973.4(MED25):c.1231-20T>G
|
|
|
NM_030973.4(MED25):c.1231-3C>T
|
|
|
NM_030973.4(MED25):c.1231-5dup
|
rs778157941
|
|
NM_030973.4(MED25):c.123C>G (p.Leu41=)
|
|
|
NM_030973.4(MED25):c.123C>T (p.Leu41=)
|
|
|
NM_030973.4(MED25):c.1243G>A (p.Ala415Thr)
|
rs771844561
|
|
NM_030973.4(MED25):c.1244C>T (p.Ala415Val)
|
rs775141134
|
|
NM_030973.4(MED25):c.124C>T (p.Pro42Ser)
|
rs199588409
|
|
NM_030973.4(MED25):c.1250T>C (p.Val417Ala)
|
rs2123882109
|
|
NM_030973.4(MED25):c.1263C>G (p.Thr421=)
|
|
|
NM_030973.4(MED25):c.1272G>A (p.Thr424=)
|
|
|
NM_030973.4(MED25):c.1275G>A (p.Arg425=)
|
|
|
NM_030973.4(MED25):c.1288C>G (p.Gln430Glu)
|
rs2074060785
|
|
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
|
|
|
NM_030973.4(MED25):c.1304A>G (p.His435Arg)
|
|
|
NM_030973.4(MED25):c.1316+12T>C
|
|
|
NM_030973.4(MED25):c.1316+14_1316+15del
|
|
|
NM_030973.4(MED25):c.1316+1G>A
|
|
|
NM_030973.4(MED25):c.1316+20G>A
|
|
|
NM_030973.4(MED25):c.1316+20G>C
|
rs533964778
|
|
NM_030973.4(MED25):c.1316+23del
|
|
|
NM_030973.4(MED25):c.1316+8A>G
|
|
|
NM_030973.4(MED25):c.1317-16del
|
rs748829394
|
|
NM_030973.4(MED25):c.1317-19C>T
|
|
|
NM_030973.4(MED25):c.1317-20T>C
|
|
|
NM_030973.4(MED25):c.1317-3del
|
rs2074062033
|
|
NM_030973.4(MED25):c.1317-8G>A
|
rs1036590547
|
|
NM_030973.4(MED25):c.1317-8G>T
|
rs1036590547
|
|
NM_030973.4(MED25):c.1323G>A (p.Thr441=)
|
|
|
NM_030973.4(MED25):c.134+14C>T
|
|
|
NM_030973.4(MED25):c.134+17C>T
|
|
|
NM_030973.4(MED25):c.134+8C>T
|
rs2123860485
|
|
NM_030973.4(MED25):c.135-11T>C
|
|
|
NM_030973.4(MED25):c.135-12C>G
|
|
|
NM_030973.4(MED25):c.135-15T>C
|
|
|
NM_030973.4(MED25):c.135-15T>G
|
rs1256237742
|
|
NM_030973.4(MED25):c.135-17A>G
|
|
|
NM_030973.4(MED25):c.135-5C>T
|
rs758925407
|
|
NM_030973.4(MED25):c.1350G>A (p.Met450Ile)
|
rs1568623987
|
|
NM_030973.4(MED25):c.1359C>T (p.Ile453=)
|
|
|
NM_030973.4(MED25):c.1363C>A (p.Gln455Lys)
|
|
|
NM_030973.4(MED25):c.1369C>T (p.Leu457=)
|
rs566536708
|
|
NM_030973.4(MED25):c.1374G>A (p.Leu458=)
|
rs2074062447
|
|
NM_030973.4(MED25):c.1375-10T>A
|
|
|
NM_030973.4(MED25):c.1375-15C>T
|
|
|
NM_030973.4(MED25):c.1375-5dup
|
|
|
NM_030973.4(MED25):c.1375-7C>T
|
rs2123882866
|
|
NM_030973.4(MED25):c.1377C>A (p.Thr459=)
|
|
|
NM_030973.4(MED25):c.138T>C (p.Tyr46=)
|
rs758573961
|
|
NM_030973.4(MED25):c.1391del (p.Leu464fs)
|
|
|
NM_030973.4(MED25):c.1395C>T (p.Phe465=)
|
|
|
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del)
|
rs2073952891
|
|
NM_030973.4(MED25):c.140_144del (p.Phe47fs)
|
rs2123860743
|
|
NM_030973.4(MED25):c.1410G>A (p.Met470Ile)
|
|
|
NM_030973.4(MED25):c.1416G>A (p.Gln472=)
|
|
|
NM_030973.4(MED25):c.1430A>G (p.Asn477Ser)
|
rs2074064545
|
|
NM_030973.4(MED25):c.1438del (p.Leu480fs)
|
rs2123882986
|
|
NM_030973.4(MED25):c.145G>C (p.Gly49Arg)
|
|
|
NM_030973.4(MED25):c.1482+12G>A
|
|
|
NM_030973.4(MED25):c.1482+14A>G
|
|
|
NM_030973.4(MED25):c.1482+16G>A
|
|
|
NM_030973.4(MED25):c.1482+21dup
|
|
|
NM_030973.4(MED25):c.1482+9A>G
|
rs2123883050
|
|
NM_030973.4(MED25):c.1483-13G>A
|
rs886054581
|
|
NM_030973.4(MED25):c.1483-5C>G
|
|
|
NM_030973.4(MED25):c.1497C>T (p.His499=)
|
rs2074084856
|
|
NM_030973.4(MED25):c.1501C>T (p.Pro501Ser)
|
rs2074084894
|
|
NM_030973.4(MED25):c.1504del (p.His502fs)
|
rs2123886765
|
|
NM_030973.4(MED25):c.1512G>A (p.Ala504=)
|
|
|
NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer)
|
rs775019484
|
|
NM_030973.4(MED25):c.1521G>A (p.Glu507=)
|
|
|
NM_030973.4(MED25):c.1526G>A (p.Arg509His)
|
rs1156431468
|
|
NM_030973.4(MED25):c.1527C>G (p.Arg509=)
|
|
|
NM_030973.4(MED25):c.1548G>A (p.Ser516=)
|
|
|
NM_030973.4(MED25):c.1548G>C (p.Ser516=)
|
rs370402922
|
|
NM_030973.4(MED25):c.1559A>T (p.Lys520Met)
|
rs2074085416
|
|
NM_030973.4(MED25):c.1566_1569del (p.Phe522fs)
|
rs2074085486
|
|
NM_030973.4(MED25):c.1567A>T (p.Met523Leu)
|
rs1568625142
|
|
NM_030973.4(MED25):c.1590_1603del (p.Ser531fs)
|
rs1239980123
|
|
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
|
rs964471885
|
|
NM_030973.4(MED25):c.1599C>T (p.Phe533=)
|
|
|
NM_030973.4(MED25):c.15C>T (p.Ser5=)
|
rs1568617655
|
|
NM_030973.4(MED25):c.1602C>T (p.Val534=)
|
|
|
NM_030973.4(MED25):c.1615C>G (p.Gln539Glu)
|
|
|
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)
|
rs770792425
|
|
NM_030973.4(MED25):c.1643A>C (p.Gln548Pro)
|
rs2074086161
|
|
NM_030973.4(MED25):c.1643A>G (p.Gln548Arg)
|
rs2074086161
|
|
NM_030973.4(MED25):c.1655_1663del (p.Leu552_Gln554del)
|
rs2123887022
|
|
NM_030973.4(MED25):c.1674+19C>G
|
rs752522
|
|
NM_030973.4(MED25):c.1674+19C>T
|
rs752522
|
|
NM_030973.4(MED25):c.1674+8T>A
|
|
|
NM_030973.4(MED25):c.1677G>A (p.Met559Ile)
|
rs369006637
|
|
NM_030973.4(MED25):c.1677G>T (p.Met559Ile)
|
rs369006637
|
|
NM_030973.4(MED25):c.1679G>C (p.Gly560Ala)
|
|
|
NM_030973.4(MED25):c.1680_1682del (p.Gly561del)
|
|
|
NM_030973.4(MED25):c.1682G>T (p.Gly561Val)
|
rs1474701596
|
|
NM_030973.4(MED25):c.1686G>A (p.Gln562=)
|
|
|
NM_030973.4(MED25):c.1692A>T (p.Ala564=)
|
|
|
NM_030973.4(MED25):c.1693C>T (p.Pro565Ser)
|
|
|
NM_030973.4(MED25):c.1696_1697del (p.Pro566fs)
|
rs2074089681
|
|
NM_030973.4(MED25):c.1703T>C (p.Leu568Pro)
|
rs2123887728
|
|
NM_030973.4(MED25):c.1704G>A (p.Leu568=)
|
rs1222662917
|
|
NM_030973.4(MED25):c.170T>C (p.Phe57Ser)
|
rs2073956256
|
|
NM_030973.4(MED25):c.170T>G (p.Phe57Cys)
|
|
|
NM_030973.4(MED25):c.1722C>T (p.Asp574=)
|
|
|
NM_030973.4(MED25):c.1727C>T (p.Ala576Val)
|
rs193291405
|
|
NM_030973.4(MED25):c.1730G>A (p.Arg577Lys)
|
|
|
NM_030973.4(MED25):c.1731G>A (p.Arg577=)
|
|
|
NM_030973.4(MED25):c.1734C>T (p.Pro578=)
|
rs2074090173
|
|
NM_030973.4(MED25):c.1746+18G>A
|
|
|
NM_030973.4(MED25):c.1746+20G>A
|
rs2123887846
|
|
NM_030973.4(MED25):c.1746+9A>G
|
rs1600330946
|
|
NM_030973.4(MED25):c.1747-14dup
|
|
|
NM_030973.4(MED25):c.1747-18T>C
|
rs759379519
|
|
NM_030973.4(MED25):c.1747-18del
|
|
|
NM_030973.4(MED25):c.1749C>A (p.Leu583=)
|
|
|
NM_030973.4(MED25):c.174G>A (p.Gly58=)
|
rs773338897
|
|
NM_030973.4(MED25):c.1753C>T (p.Leu585Phe)
|
|
|
NM_030973.4(MED25):c.1755C>G (p.Leu585=)
|
rs1004381819
|
|
NM_030973.4(MED25):c.1761A>T (p.Pro587=)
|
rs1568625500
|
|
NM_030973.4(MED25):c.1763C>T (p.Pro588Leu)
|
|
|
NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser)
|
|
|
NM_030973.4(MED25):c.1771C>G (p.Gln591Glu)
|
rs1600331179
|
|
NM_030973.4(MED25):c.1775C>T (p.Pro592Leu)
|
|
|
NM_030973.4(MED25):c.1788A>G (p.Val596=)
|
|
|
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del)
|
rs764613506
|
|
NM_030973.4(MED25):c.1795_1803dup (p.Ser599_Ala601dup)
|
rs764613506
|
|
NM_030973.4(MED25):c.1799G>A (p.Gly600Glu)
|
rs1188355950
|
|
NM_030973.4(MED25):c.1801del (p.Ala601fs)
|
|
|
NM_030973.4(MED25):c.1805C>T (p.Thr602Met)
|
|
|
NM_030973.4(MED25):c.1806G>A (p.Thr602=)
|
|
|
NM_030973.4(MED25):c.181-17C>G
|
|
|
NM_030973.4(MED25):c.181-20T>C
|
|
|
NM_030973.4(MED25):c.181-4C>T
|
rs2123862076
|
|
NM_030973.4(MED25):c.181-8C>T
|
|
|
NM_030973.4(MED25):c.181-9C>T
|
|
|
NM_030973.4(MED25):c.1812GCCCCA[3] (p.605PQ[3])
|
rs2074092563
|
|
NM_030973.4(MED25):c.1831G>A (p.Ala611Thr)
|
rs2074092949
|
|
NM_030973.4(MED25):c.1833C>G (p.Ala611=)
|
|
|
NM_030973.4(MED25):c.1842G>C (p.Pro614=)
|
rs368884119
|
|
NM_030973.4(MED25):c.1852C>T (p.Pro618Ser)
|
rs777988894
|
|
NM_030973.4(MED25):c.1853C>T (p.Pro618Leu)
|
rs1600331387
|
|
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys)
|
rs769034498
|
|
NM_030973.4(MED25):c.186G>C (p.Gly62=)
|
|
|
NM_030973.4(MED25):c.1875T>A (p.Ala625=)
|
|
|
NM_030973.4(MED25):c.1885C>T (p.Pro629Ser)
|
rs1368000406
|
|
NM_030973.4(MED25):c.1888C>G (p.Pro630Ala)
|
rs900142190
|
|
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu)
|
rs775342932
|
|
NM_030973.4(MED25):c.189G>A (p.Gly63=)
|
|
|
NM_030973.4(MED25):c.189dup (p.Thr64fs)
|
|
|
NM_030973.4(MED25):c.1910C>T (p.Pro637Leu)
|
rs764747321
|
|
NM_030973.4(MED25):c.1911C>T (p.Pro637=)
|
|
|
NM_030973.4(MED25):c.1912C>T (p.Gln638Ter)
|
|
|
NM_030973.4(MED25):c.1915A>G (p.Asn639Asp)
|
rs776959726
|
|
NM_030973.4(MED25):c.1919del (p.Pro640fs)
|
rs1223073957
|
|
NM_030973.4(MED25):c.1920T>C (p.Pro640=)
|
rs1600331507
|
|
NM_030973.4(MED25):c.192C>A (p.Thr64=)
|
|
|
NM_030973.4(MED25):c.1951C>T (p.Leu651Phe)
|
rs2123888587
|
|
NM_030973.4(MED25):c.1952T>G (p.Leu651Arg)
|
rs878855132
|
|
NM_030973.4(MED25):c.1953C>T (p.Leu651=)
|
rs2123888595
|
|
NM_030973.4(MED25):c.1955A>G (p.Asn652Ser)
|
rs1051416581
|
|
NM_030973.4(MED25):c.1965+14G>T
|
|
|
NM_030973.4(MED25):c.1965+16G>C
|
rs1005068403
|
|
NM_030973.4(MED25):c.1965+16G>T
|
|
|
NM_030973.4(MED25):c.1966-10_1966-9del
|
rs778581967
|
|
NM_030973.4(MED25):c.1966-15T>C
|
|
|
NM_030973.4(MED25):c.1966-18CT[2]
|
|
|
NM_030973.4(MED25):c.1967C>T (p.Pro656Leu)
|
|
|
NM_030973.4(MED25):c.1972A>C (p.Thr658Pro)
|
rs1030696258
|
|
NM_030973.4(MED25):c.1976G>T (p.Gly659Val)
|
|
|
NM_030973.4(MED25):c.1981C>G (p.Pro661Ala)
|
rs748129176
|
|
NM_030973.4(MED25):c.1983C>T (p.Pro661=)
|
|
|
NM_030973.4(MED25):c.2026C>A (p.Pro676Thr)
|
rs1263091655
|
|
NM_030973.4(MED25):c.2028_2030del (p.Ala677del)
|
rs1600331974
|
|
NM_030973.4(MED25):c.2037G>A (p.Leu679=)
|
rs2074097615
|
|
NM_030973.4(MED25):c.2060G>A (p.Gly687Glu)
|
|
|
NM_030973.4(MED25):c.2061G>A (p.Gly687=)
|
rs751782742
|
|
NM_030973.4(MED25):c.2065C>T (p.Pro689Ser)
|
rs1352294152
|
|
NM_030973.4(MED25):c.2068_2069del (p.Gln690fs)
|
rs2074097900
|
|
NM_030973.4(MED25):c.2070G>C (p.Gln690His)
|
|
|
NM_030973.4(MED25):c.2085C>T (p.Leu695=)
|
rs1600332106
|
|
NM_030973.4(MED25):c.2095C>G (p.Pro699Ala)
|
rs770600111
|
|
NM_030973.4(MED25):c.20G>T (p.Gly7Val)
|
rs2123860220
|
|
NM_030973.4(MED25):c.210G>A (p.Val70=)
|
|
|
NM_030973.4(MED25):c.2121A>G (p.Gln707=)
|
|
|
NM_030973.4(MED25):c.2130T>A (p.Pro710=)
|
rs1600332188
|
|
NM_030973.4(MED25):c.2132G>A (p.Arg711Gln)
|
|
|
NM_030973.4(MED25):c.2137C>T (p.Pro713Ser)
|
|
|
NM_030973.4(MED25):c.2144dup (p.Gly716fs)
|
rs1568625990
|
|
NM_030973.4(MED25):c.2146+19G>T
|
rs568964675
|
|
NM_030973.4(MED25):c.2146+8G>A
|
|
|
NM_030973.4(MED25):c.2146+8del
|
|
|
NM_030973.4(MED25):c.2146+9A>C
|
|
|
NM_030973.4(MED25):c.2147-19C>T
|
|
|
NM_030973.4(MED25):c.2147-3C>T
|
rs1555803003
|
|
NM_030973.4(MED25):c.2147G>A (p.Gly716Asp)
|
rs2074102680
|
|
NM_030973.4(MED25):c.2160G>A (p.Leu720=)
|
|
|
NM_030973.4(MED25):c.2181G>T (p.Pro727=)
|
rs775431728
|
|
NM_030973.4(MED25):c.2185C>T (p.Pro729Ser)
|
rs536619167
|
|
NM_030973.4(MED25):c.2191C>T (p.Pro731Ser)
|
rs1236215092
|
|
NM_030973.4(MED25):c.2199G>T (p.Leu733=)
|
|
|
NM_030973.4(MED25):c.2200C>T (p.Gln734Ter)
|
rs1600332988
|
|
NM_030973.4(MED25):c.2235T>C (p.Asp745=)
|
|
|
NM_030973.4(MED25):c.2239A>C (p.Ile747Leu)
|
rs2074103858
|
|
NM_030973.4(MED25):c.228C>T (p.Cys76=)
|
rs770196362
|
|
NM_030973.4(MED25):c.229G>C (p.Ala77Pro)
|
rs1290551836
|
|
NM_030973.4(MED25):c.234C>G (p.Pro78=)
|
rs74863643
|
|
NM_030973.4(MED25):c.234C>T (p.Pro78=)
|
rs74863643
|
|
NM_030973.4(MED25):c.243C>T (p.Tyr81=)
|
rs2123862187
|
|
NM_030973.4(MED25):c.248A>G (p.Gln83Arg)
|
rs2073964192
|
|
NM_030973.4(MED25):c.259C>G (p.Pro87Ala)
|
|
|
NM_030973.4(MED25):c.273C>T (p.Ala91=)
|
rs1600313252
|
|
NM_030973.4(MED25):c.282dup (p.Val95fs)
|
rs1568618345
|
|
NM_030973.4(MED25):c.283G>A (p.Val95Ile)
|
rs1475262890
|
|
NM_030973.4(MED25):c.287C>G (p.Thr96Ser)
|
rs2123862294
|
|
NM_030973.4(MED25):c.288C>G (p.Thr96=)
|
rs2123862300
|
|
NM_030973.4(MED25):c.28C>T (p.Arg10Cys)
|
|
|
NM_030973.4(MED25):c.294C>G (p.Leu98=)
|
rs140379422
|
|
NM_030973.4(MED25):c.294C>T (p.Leu98=)
|
rs140379422
|
|
NM_030973.4(MED25):c.305+14C>G
|
rs773627830
|
|
NM_030973.4(MED25):c.305+14C>T
|
|
|
NM_030973.4(MED25):c.305+15A>G
|
rs2123862362
|
|
NM_030973.4(MED25):c.305+7T>C
|
|
|
NM_030973.4(MED25):c.306-16C>A
|
|
|
NM_030973.4(MED25):c.306-16C>T
|
|
|
NM_030973.4(MED25):c.306-6C>T
|
|
|
NM_030973.4(MED25):c.311T>C (p.Met104Thr)
|
|
|
NM_030973.4(MED25):c.316G>C (p.Gly106Arg)
|
|
|
NM_030973.4(MED25):c.320G>C (p.Gly107Ala)
|
rs1448711945
|
|
NM_030973.4(MED25):c.320del (p.Gly107fs)
|
rs776360611
|
|
NM_030973.4(MED25):c.322G>A (p.Gly108Ser)
|
rs2074030164
|
|
NM_030973.4(MED25):c.330C>A (p.Ser110Arg)
|
rs898525772
|
|
NM_030973.4(MED25):c.340A>G (p.Ile114Val)
|
|
|
NM_030973.4(MED25):c.342C>A (p.Ile114=)
|
|
|
NM_030973.4(MED25):c.343G>A (p.Ala115Thr)
|
rs1433714797
|
|
NM_030973.4(MED25):c.357C>T (p.Ser119=)
|
|
|
NM_030973.4(MED25):c.367C>A (p.Gln123Lys)
|
rs764968113
|
|
NM_030973.4(MED25):c.36G>C (p.Gly12=)
|
|
|
NM_030973.4(MED25):c.372G>C (p.Leu124=)
|
rs765814691
|
|
NM_030973.4(MED25):c.377A>T (p.Asp126Val)
|
rs751058652
|
|
NM_030973.4(MED25):c.389A>G (p.Lys130Arg)
|
|
|
NM_030973.4(MED25):c.393_394delinsCT (p.Met131_Arg132delinsIleCys)
|
rs1555801968
|
|
NM_030973.4(MED25):c.397G>A (p.Glu133Lys)
|
|
|
NM_030973.4(MED25):c.404+12dup
|
|
|
NM_030973.4(MED25):c.404+4A>C
|
|
|
NM_030973.4(MED25):c.405-12C>T
|
|
|
NM_030973.4(MED25):c.405-16C>A
|
|
|
NM_030973.4(MED25):c.405-20T>A
|
|
|
NM_030973.4(MED25):c.405-4G>A
|
|
|
NM_030973.4(MED25):c.405-5G>C
|
|
|
NM_030973.4(MED25):c.405-8C>A
|
|
|
NM_030973.4(MED25):c.405T>C (p.Ile135=)
|
rs2123876614
|
|
NM_030973.4(MED25):c.406G>A (p.Gly136Ser)
|
|
|
NM_030973.4(MED25):c.414G>A (p.Thr138=)
|
rs1333998604
|
|
NM_030973.4(MED25):c.414G>C (p.Thr138=)
|
rs1333998604
|
|
NM_030973.4(MED25):c.419G>A (p.Arg140Gln)
|
rs748347831
|
|
NM_030973.4(MED25):c.421G>C (p.Val141Leu)
|
rs1398290748
|
|
NM_030973.4(MED25):c.432C>T (p.Leu144=)
|
rs150534771
|
|
NM_030973.4(MED25):c.438C>T (p.Cys146=)
|
|
|
NM_030973.4(MED25):c.439A>C (p.Asn147His)
|
rs2074034296
|
|
NM_030973.4(MED25):c.440A>C (p.Asn147Thr)
|
rs575908777
|
|
NM_030973.4(MED25):c.440A>G (p.Asn147Ser)
|
|
|
NM_030973.4(MED25):c.449del (p.Pro150fs)
|
rs1600323331
|
|
NM_030973.4(MED25):c.459G>T (p.Leu153Phe)
|
rs1461710400
|
|
NM_030973.4(MED25):c.475A>G (p.Thr159Ala)
|
|
|
NM_030973.4(MED25):c.48C>T (p.Ala16=)
|
|
|
NM_030973.4(MED25):c.506T>C (p.Leu169Pro)
|
rs2123876804
|
|
NM_030973.4(MED25):c.518T>C (p.Ile173Thr)
|
rs781753774
|
|
NM_030973.4(MED25):c.520G>A (p.Gly174Arg)
|
|
|
NM_030973.4(MED25):c.525+11C>T
|
|
|
NM_030973.4(MED25):c.525+12A>G
|
|
|
NM_030973.4(MED25):c.525+20_525+34del
|
rs766617168
|
|
NM_030973.4(MED25):c.525G>A (p.Glu175=)
|
rs2074035059
|
|
NM_030973.4(MED25):c.526-11C>T
|
|
|
NM_030973.4(MED25):c.526-13C>T
|
|
|
NM_030973.4(MED25):c.526-17C>T
|
|
|
NM_030973.4(MED25):c.526-3C>T
|
|
|
NM_030973.4(MED25):c.527G>A (p.Arg176Gln)
|
rs1364981975
|
|
NM_030973.4(MED25):c.544A>G (p.Ile182Val)
|
rs1568622523
|
|
NM_030973.4(MED25):c.547G>A (p.Val183Met)
|
rs1555802134
|
|
NM_030973.4(MED25):c.558G>A (p.Arg186=)
|
rs761471297
|
|
NM_030973.4(MED25):c.575G>A (p.Arg192Gln)
|
|
|
NM_030973.4(MED25):c.58T>A (p.Phe20Ile)
|
|
|
NM_030973.4(MED25):c.597C>A (p.Ala199=)
|
rs149788020
|
|
NM_030973.4(MED25):c.597C>G (p.Ala199=)
|
rs149788020
|
|
NM_030973.4(MED25):c.597C>T (p.Ala199=)
|
rs149788020
|
|
NM_030973.4(MED25):c.600C>A (p.Pro200=)
|
|
|
NM_030973.4(MED25):c.600C>G (p.Pro200=)
|
rs753910880
|
|
NM_030973.4(MED25):c.601C>A (p.Pro201Thr)
|
|
|
NM_030973.4(MED25):c.601C>G (p.Pro201Ala)
|
rs149611039
|
|
NM_030973.4(MED25):c.602del (p.Pro201fs)
|
rs748546983
|
|
NM_030973.4(MED25):c.602dup (p.Ala202fs)
|
rs748546983
|
|
NM_030973.4(MED25):c.603G>A (p.Pro201=)
|
|
|
NM_030973.4(MED25):c.603G>C (p.Pro201=)
|
rs546857153
|
|
NM_030973.4(MED25):c.610C>T (p.Leu204=)
|
rs2123878440
|
|
NM_030973.4(MED25):c.61G>A (p.Val21Met)
|
rs2073953656
|
|
NM_030973.4(MED25):c.630G>A (p.Pro210=)
|
|
|
NM_030973.4(MED25):c.633A>G (p.Thr211=)
|
rs369117035
|
|
NM_030973.4(MED25):c.633A>T (p.Thr211=)
|
rs369117035
|
|
NM_030973.4(MED25):c.650C>T (p.Pro217Leu)
|
|
|
NM_030973.4(MED25):c.658A>T (p.Met220Leu)
|
rs905166588
|
|
NM_030973.4(MED25):c.689-5C>T
|
|
|
NM_030973.4(MED25):c.693_695del (p.Gly233del)
|
|
|
NM_030973.4(MED25):c.703G>A (p.Ala235Thr)
|
rs2074043556
|
|
NM_030973.4(MED25):c.705C>G (p.Ala235=)
|
|
|
NM_030973.4(MED25):c.735C>G (p.Val245=)
|
rs774587834
|
|
NM_030973.4(MED25):c.740del (p.Leu247fs)
|
rs2074044055
|
|
NM_030973.4(MED25):c.743C>T (p.Pro248Leu)
|
|
|
NM_030973.4(MED25):c.750C>G (p.Ala250=)
|
rs1397405011
|
|
NM_030973.4(MED25):c.750C>T (p.Ala250=)
|
|
|
NM_030973.4(MED25):c.755C>T (p.Pro252Leu)
|
rs2074044376
|
|
NM_030973.4(MED25):c.761G>A (p.Gly254Asp)
|
rs2074044441
|
|
NM_030973.4(MED25):c.769C>T (p.Leu257Phe)
|
|
|
NM_030973.4(MED25):c.773C>T (p.Ser258Leu)
|
rs950408993
|
|
NM_030973.4(MED25):c.774A>G (p.Ser258=)
|
|
|
NM_030973.4(MED25):c.784C>T (p.Gln262Ter)
|
rs2074044739
|
|
NM_030973.4(MED25):c.787C>A (p.Gln263Lys)
|
|
|
NM_030973.4(MED25):c.787C>T (p.Gln263Ter)
|
rs765215168
|
|
NM_030973.4(MED25):c.794T>C (p.Leu265Pro)
|
|
|
NM_030973.4(MED25):c.801dup (p.Val268fs)
|
rs775072432
|
|
NM_030973.4(MED25):c.804C>T (p.Val268=)
|
|
|
NM_030973.4(MED25):c.809C>A (p.Pro270Gln)
|
|
|
NM_030973.4(MED25):c.809C>T (p.Pro270Leu)
|
rs756463606
|
|
NM_030973.4(MED25):c.819+19A>G
|
|
|
NM_030973.4(MED25):c.819+7A>G
|
|
|
NM_030973.4(MED25):c.819+9A>G
|
|
|
NM_030973.4(MED25):c.820-10C>T
|
|
|
NM_030973.4(MED25):c.820-11T>G
|
|
|
NM_030973.4(MED25):c.820-16_820-9del
|
|
|
NM_030973.4(MED25):c.820-4A>G
|
rs2074047442
|
|
NM_030973.4(MED25):c.820-5C>T
|
|
|
NM_030973.4(MED25):c.820-5del
|
|
|
NM_030973.4(MED25):c.825C>G (p.Pro275=)
|
rs771874021
|
|
NM_030973.4(MED25):c.836G>A (p.Ser279Asn)
|
|
|
NM_030973.4(MED25):c.853G>A (p.Ala285Thr)
|
rs1318288681
|
|
NM_030973.4(MED25):c.854C>A (p.Ala285Glu)
|
rs191366132
|
|
NM_030973.4(MED25):c.867G>A (p.Val289=)
|
rs202119489
|
|
NM_030973.4(MED25):c.87A>G (p.Gly29=)
|
|
|
NM_030973.4(MED25):c.888G>A (p.Lys296=)
|
rs2123879803
|
|
NM_030973.4(MED25):c.891T>C (p.Ala297=)
|
|
|
NM_030973.4(MED25):c.895C>T (p.Leu299=)
|
|
|
NM_030973.4(MED25):c.897G>A (p.Leu299=)
|
rs1394654443
|
|
NM_030973.4(MED25):c.903T>G (p.Pro301=)
|
|
|
NM_030973.4(MED25):c.906C>A (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.906C>G (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.906C>T (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.908-3_908-2del
|
rs766739944
|
|
NM_030973.4(MED25):c.908-6C>A
|
|
|
NM_030973.4(MED25):c.915C>A (p.Pro305=)
|
|
|
NM_030973.4(MED25):c.918C>G (p.Ile306Met)
|
rs1447845181
|
|
NM_030973.4(MED25):c.924del (p.Leu309fs)
|
rs2074049374
|
|
NM_030973.4(MED25):c.930A>T (p.Gln310His)
|
rs2074049426
|
|
NM_030973.4(MED25):c.945A>C (p.Gly315=)
|
rs2123880035
|
|
NM_030973.4(MED25):c.947T>G (p.Val316Gly)
|
|
|
NM_030973.4(MED25):c.955C>T (p.Pro319Ser)
|
rs886357105
|
|
NM_030973.4(MED25):c.956C>T (p.Pro319Leu)
|
rs139822988
|
|
NM_030973.4(MED25):c.959T>G (p.Phe320Cys)
|
rs2074049850
|
|
NM_030973.4(MED25):c.962G>C (p.Ser321Thr)
|
rs377259236
|
|
NM_030973.4(MED25):c.965A>G (p.Gln322Arg)
|
|
|
NM_030973.4(MED25):c.969C>T (p.Ala323=)
|
|
|
NM_030973.4(MED25):c.973G>C (p.Ala325Pro)
|
|
|
NM_030973.4(MED25):c.98A>G (p.Glu33Gly)
|
|
|
NM_170707.4(LMNA):c.1003del (p.Arg335fs)
|
rs1553265660
|
|
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
|
|
|
NM_170707.4(LMNA):c.1005G>A (p.Arg335=)
|
rs2102887328
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
NM_170707.4(LMNA):c.1016C>T (p.Ala339Val)
|
rs756538414
|
|
NM_170707.4(LMNA):c.1024G>A (p.Glu342Lys)
|
rs1651558432
|
|
NM_170707.4(LMNA):c.1026G>A (p.Glu342=)
|
|
|
NM_170707.4(LMNA):c.1027C>A (p.Arg343=)
|
rs749784223
|
|
NM_170707.4(LMNA):c.1029G>C (p.Arg343=)
|
rs1553265680
|
|
NM_170707.4(LMNA):c.102C>T (p.Asp34=)
|
|
|
NM_170707.4(LMNA):c.1030del (p.Glu344fs)
|
rs1572362885
|
|
NM_170707.4(LMNA):c.1032G>A (p.Glu344=)
|
|
|
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
|
|
|
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)
|
rs267607548
|
|
NM_170707.4(LMNA):c.1040A>C (p.Glu347Ala)
|
rs1449688220
|
|
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly)
|
rs1449688220
|
|
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
|
|
|
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)
|
rs58789393
|
|
NM_170707.4(LMNA):c.1048G>C (p.Ala350Pro)
|
rs267607610
|
|
NM_170707.4(LMNA):c.1049C>T (p.Ala350Val)
|
|
|
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)
|
rs267607644
|
|
NM_170707.4(LMNA):c.1051A>G (p.Arg351Gly)
|
rs771623461
|
|
NM_170707.4(LMNA):c.1055T>C (p.Met352Thr)
|
|
|
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)
|
rs267607623
|
|
NM_170707.4(LMNA):c.1060C>T (p.Gln354Ter)
|
rs1651564707
|
|
NM_170707.4(LMNA):c.1061A>G (p.Gln354Arg)
|
rs1651565056
|
|
NM_170707.4(LMNA):c.1062G>A (p.Gln354=)
|
|
|
NM_170707.4(LMNA):c.1063C>A (p.Gln355Lys)
|
|
|
NM_170707.4(LMNA):c.1063C>G (p.Gln355Glu)
|
rs267607617
|
|
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)
|
rs267607617
|
|
NM_170707.4(LMNA):c.1068G>A (p.Leu356=)
|
|
|
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn)
|
rs267607567
|
|
NM_170707.4(LMNA):c.1069G>C (p.Asp357His)
|
rs267607567
|
|
NM_170707.4(LMNA):c.1069G>T (p.Asp357Tyr)
|
rs267607567
|
|
NM_170707.4(LMNA):c.1071C>A (p.Asp357Glu)
|
rs376875762
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
NM_170707.4(LMNA):c.1077C>T (p.Tyr359=)
|
rs1651568187
|
|
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)
|
rs267607634
|
|
NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln)
|
rs267607634
|
|
NM_170707.4(LMNA):c.1086_1088del (p.Leu363del)
|
rs2102887987
|
|
NM_170707.4(LMNA):c.1088T>A (p.Leu363Gln)
|
|
|
NM_170707.4(LMNA):c.1089G>A (p.Leu363=)
|
|
|
NM_170707.4(LMNA):c.1089_1114dup (p.Glu372fs)
|
|
|
NM_170707.4(LMNA):c.108G>T (p.Gln36His)
|
rs2102817523
|
|
NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn)
|
rs878855231
|
|
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys)
|
rs1354642495
|
|
NM_170707.4(LMNA):c.10C>G (p.Pro4Ala)
|
|
|
NM_170707.4(LMNA):c.10C>T (p.Pro4Ser)
|
rs1477323839
|
|
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)
|
rs397517886
|
|
NM_170707.4(LMNA):c.1108G>A (p.Asp370Asn)
|
rs2102888147
|
|
NM_170707.4(LMNA):c.110A>G (p.Glu37Gly)
|
|
|
NM_170707.4(LMNA):c.1111A>G (p.Met371Val)
|
rs1270221130
|
|
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)
|
rs397517888
|
|
NM_170707.4(LMNA):c.1113G>C (p.Met371Ile)
|
|
|
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)
|
rs1553265733
|
|
NM_170707.4(LMNA):c.1114del (p.Glu372fs)
|
rs267607575
|
|
NM_170707.4(LMNA):c.1115A>G (p.Glu372Gly)
|
rs2102888292
|
|
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val)
|
rs2102888292
|
|
NM_170707.4(LMNA):c.1116G>A (p.Glu372=)
|
rs1553265736
|
|
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)
|
rs1553265736
|
|
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)
|
rs1060502214
|
|
NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)
|
rs1340894696
|
|
NM_170707.4(LMNA):c.1119C>T (p.Ile373=)
|
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1123G>A (p.Ala375Thr)
|
rs879254162
|
|
NM_170707.4(LMNA):c.1124C>A (p.Ala375Asp)
|
rs886042239
|
|
NM_170707.4(LMNA):c.1124C>G (p.Ala375Gly)
|
|
|
NM_170707.4(LMNA):c.112C>G (p.Leu38Val)
|
rs2102817550
|
|
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)
|
rs2102817550
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1136T>C (p.Leu379Pro)
|
|
|
NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)
|
|
|
NM_170707.4(LMNA):c.1141G>A (p.Glu381Lys)
|
rs2102888548
|
|
NM_170707.4(LMNA):c.1142_1157+1del
|
rs1553265755
|
|
NM_170707.4(LMNA):c.1142del (p.Glu381fs)
|
rs1553265760
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)
|
rs1651580090
|
|
NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp)
|
rs267607603
|
|
NM_170707.4(LMNA):c.1150G>A (p.Glu384Lys)
|
rs2102888695
|
|
NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly)
|
rs1572363397
|
|
NM_170707.4(LMNA):c.1157+12A>G
|
|
|
NM_170707.4(LMNA):c.1157+13G>A
|
|
|
NM_170707.4(LMNA):c.1157+16G>T
|
|
|
NM_170707.4(LMNA):c.1157+1G>A
|
rs267607590
|
|
NM_170707.4(LMNA):c.1157+1G>T
|
rs267607590
|
|
NM_170707.4(LMNA):c.1157+22G>A
|
|
|
NM_170707.4(LMNA):c.1157+30G>A
|
|
|
NM_170707.4(LMNA):c.1157+3G>A
|
|
|
NM_170707.4(LMNA):c.1157+46C>T
|
|
|
NM_170707.4(LMNA):c.1157+7T>C
|
|
|
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)
|
rs267607545
|
|
NM_170707.4(LMNA):c.1158-10C>T
|
rs1572363723
|
|
NM_170707.4(LMNA):c.1158-14C>T
|
rs1651595760
|
|
NM_170707.4(LMNA):c.1158-16G>A
|
|
|
NM_170707.4(LMNA):c.1158-16G>T
|
|
|
NM_170707.4(LMNA):c.1158-1G>T
|
rs1651598289
|
|
NM_170707.4(LMNA):c.1158-46G>A
|
|
|
NM_170707.4(LMNA):c.1158-4C>A
|
rs2102889270
|
|
NM_170707.4(LMNA):c.1158-5C>G
|
rs1328158335
|
|
NM_170707.4(LMNA):c.1158-6C>T
|
rs1375538892
|
|
NM_170707.4(LMNA):c.1158G>A (p.Arg386=)
|
rs879253933
|
|
NM_170707.4(LMNA):c.1158G>C (p.Arg386Ser)
|
rs879253933
|
|
NM_170707.4(LMNA):c.1158G>T (p.Arg386Ser)
|
rs879253933
|
|
NM_170707.4(LMNA):c.115A>C (p.Asn39His)
|
rs267607627
|
|
NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)
|
|
|
NM_170707.4(LMNA):c.1160T>A (p.Leu387Gln)
|
|
|
NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro)
|
rs879253934
|
|
NM_170707.4(LMNA):c.1161_1178dup (p.Arg388_Pro393dup)
|
rs1553265793
|
|
NM_170707.4(LMNA):c.1162C>T (p.Arg388Cys)
|
rs58133342
|
|
NM_170707.4(LMNA):c.1167G>A (p.Leu389=)
|
|
|
NM_170707.4(LMNA):c.1169C>T (p.Ser390Phe)
|
|
|
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)
|
rs57983345
|
|
NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)
|
rs57983345
|
|
NM_170707.4(LMNA):c.1170C>T (p.Ser390=)
|
rs2102889456
|
|
NM_170707.4(LMNA):c.1173C>T (p.Pro391=)
|
rs1553265807
|
|
NM_170707.4(LMNA):c.1176C>T (p.Ser392=)
|
rs1045472115
|
|
NM_170707.4(LMNA):c.117T>A (p.Asn39Lys)
|
|
|
NM_170707.4(LMNA):c.1181C>T (p.Thr394Ile)
|
rs757887400
|
|
NM_170707.4(LMNA):c.1182C>G (p.Thr394=)
|
|
|
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)
|
rs267607561
|
|
NM_170707.4(LMNA):c.1185G>T (p.Ser395=)
|
rs397517890
|
|
NM_170707.4(LMNA):c.118G>A (p.Asp40Asn)
|
|
|
NM_170707.4(LMNA):c.1193G>C (p.Ser398Thr)
|
|
|
NM_170707.4(LMNA):c.1196G>C (p.Arg399Pro)
|
|
|
NM_170707.4(LMNA):c.1197T>C (p.Arg399=)
|
|
|
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
|
|
|
NM_170707.4(LMNA):c.1199G>A (p.Gly400Asp)
|
rs1651608363
|
|
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)
|
rs267607620
|
|
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)
|
rs267607620
|
|
NM_170707.4(LMNA):c.11dup (p.Ser5fs)
|
rs1572331707
|
|
NM_170707.4(LMNA):c.1203T>G (p.Arg401=)
|
|
|
NM_170707.4(LMNA):c.1209C>T (p.Ser403=)
|
rs776975256
|
|
NM_170707.4(LMNA):c.1214del (p.His405fs)
|
|
|
NM_170707.4(LMNA):c.1215C>T (p.His405=)
|
|
|
NM_170707.4(LMNA):c.1215_1218del (p.Ser406fs)
|
|
|
NM_170707.4(LMNA):c.1218A>G (p.Ser406=)
|
rs1651612863
|
|
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)
|
rs1572332164
|
|
NM_170707.4(LMNA):c.121C>T (p.Arg41Cys)
|
|
|
NM_170707.4(LMNA):c.1220C>A (p.Ser407Tyr)
|
|
|
NM_170707.4(LMNA):c.1225A>C (p.Thr409Pro)
|
|
|
NM_170707.4(LMNA):c.1229_1230del (p.Gln410fs)
|
|
|
NM_170707.4(LMNA):c.122G>A (p.Arg41His)
|
rs1060502215
|
|
NM_170707.4(LMNA):c.122G>T (p.Arg41Leu)
|
rs1060502215
|
|
NM_170707.4(LMNA):c.1232del (p.Gly411fs)
|
rs2102889960
|
|
NM_170707.4(LMNA):c.1232dup (p.Gly412fs)
|
rs2102889960
|
|
NM_170707.4(LMNA):c.1234G>A (p.Gly412Arg)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1236G>A (p.Gly412=)
|
rs763537103
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
NM_170707.4(LMNA):c.1238G>A (p.Gly413Asp)
|
rs1350031185
|
|
NM_170707.4(LMNA):c.1238del (p.Gly413fs)
|
rs2102890051
|
|
NM_170707.4(LMNA):c.1239C>A (p.Gly413=)
|
|
|
NM_170707.4(LMNA):c.1241G>A (p.Ser414Asn)
|
|
|
NM_170707.4(LMNA):c.1244T>C (p.Val415Ala)
|
|
|
NM_170707.4(LMNA):c.1247C>T (p.Thr416Ile)
|
rs752367284
|
|
NM_170707.4(LMNA):c.1248del (p.Lys418fs)
|
rs2102890220
|
|
NM_170707.4(LMNA):c.124T>C (p.Leu42=)
|
|
|
NM_170707.4(LMNA):c.1253del (p.Lys418fs)
|
rs2102890245
|
|
NM_170707.4(LMNA):c.1254G>A (p.Lys418=)
|
rs2102890270
|
|
NM_170707.4(LMNA):c.1256G>C (p.Arg419Pro)
|
rs777648901
|
|
NM_170707.4(LMNA):c.1257C>T (p.Arg419=)
|
|
|
NM_170707.4(LMNA):c.125T>C (p.Leu42Ser)
|
rs2102817644
|
|
NM_170707.4(LMNA):c.1261C>T (p.Leu421=)
|
rs1194745110
|
|
NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)
|
rs1448275854
|
|
NM_170707.4(LMNA):c.1271C>G (p.Thr424Ser)
|
rs2102890444
|
|
NM_170707.4(LMNA):c.1271C>T (p.Thr424Ile)
|
|
|
NM_170707.4(LMNA):c.1272T>C (p.Thr424=)
|
|
|
NM_170707.4(LMNA):c.1274A>G (p.Glu425Gly)
|
|
|
NM_170707.4(LMNA):c.1276_1277del (p.Ser426fs)
|
rs1553265865
|
|
NM_170707.4(LMNA):c.1278C>T (p.Ser426=)
|
|
|
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)
|
rs60446065
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)
|
rs1651629254
|
|
NM_170707.4(LMNA):c.128C>A (p.Ala43Glu)
|
rs2102817667
|
|
NM_170707.4(LMNA):c.1292C>T (p.Ser431Leu)
|
rs1651629810
|
|
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)
|
rs267607618
|
|
NM_170707.4(LMNA):c.129G>C (p.Ala43=)
|
|
|
NM_170707.4(LMNA):c.12G>C (p.Pro4=)
|
rs369823958
|
|
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1302A>G (p.Ala434=)
|
|
|
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1305C>T (p.Arg435=)
|
|
|
NM_170707.4(LMNA):c.130G>T (p.Val44Phe)
|
rs1057518971
|
|
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg)
|
rs766932100
|
|
NM_170707.4(LMNA):c.1314G>T (p.Gly438=)
|
rs774817302
|
|
NM_170707.4(LMNA):c.1315dup (p.Arg439fs)
|
|
|
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
|
|
|
NM_170707.4(LMNA):c.1316_1322del (p.Arg439fs)
|
|
|
NM_170707.4(LMNA):c.1317C>T (p.Arg439=)
|
rs374804871
|
|
NM_170707.4(LMNA):c.1321del (p.Ala441fs)
|
rs2102890974
|
|
NM_170707.4(LMNA):c.1323C>A (p.Ala441=)
|
rs140194535
|
|
NM_170707.4(LMNA):c.1323C>T (p.Ala441=)
|
rs140194535
|
|
NM_170707.4(LMNA):c.1324G>C (p.Val442Leu)
|
rs368542816
|
|
NM_170707.4(LMNA):c.1324G>T (p.Val442Leu)
|
|
|
NM_170707.4(LMNA):c.1325T>C (p.Val442Ala)
|
rs2102891062
|
|
NM_170707.4(LMNA):c.132C>T (p.Val44=)
|
rs762049172
|
|
NM_170707.4(LMNA):c.1330G>A (p.Glu444Lys)
|
|
|
NM_170707.4(LMNA):c.1332G>C (p.Glu444Asp)
|
|
|
NM_170707.4(LMNA):c.1334_1342dup (p.Val445_Glu447dup)
|
rs1651638404
|
|
NM_170707.4(LMNA):c.1335G>A (p.Val445=)
|
|
|
NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly)
|
rs58541611
|
|
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)
|
rs58541611
|
|
NM_170707.4(LMNA):c.133T>C (p.Tyr45His)
|
rs1649714371
|
|
NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter)
|
rs2102891243
|
|
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)
|
rs267607637
|
|
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)
|
rs58436778
|
|
NM_170707.4(LMNA):c.1350G>A (p.Lys450=)
|
rs2102891265
|
|
NM_170707.4(LMNA):c.1350G>C (p.Lys450Asn)
|
|
|
NM_170707.4(LMNA):c.1354G>T (p.Val452Phe)
|
rs2102891279
|
|
NM_170707.4(LMNA):c.1355T>C (p.Val452Ala)
|
rs2102891292
|
|
NM_170707.4(LMNA):c.1355T>G (p.Val452Gly)
|
|
|
NM_170707.4(LMNA):c.1356C>A (p.Val452=)
|
rs1572364681
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)
|
rs267607598
|
|
NM_170707.4(LMNA):c.1359G>A (p.Arg453=)
|
rs1321318572
|
|
NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter)
|
rs2102817698
|
|
NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro)
|
rs267607638
|
|
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)
|
rs267607597
|
|
NM_170707.4(LMNA):c.1365CAA[1] (p.Asn456del)
|
rs267607550
|
|
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)
|
rs267607599
|
|
NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr)
|
rs267607599
|
|
NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr)
|
|
|
NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys)
|
rs61235244
|
|
NM_170707.4(LMNA):c.136A>C (p.Ile46Leu)
|
rs267607615
|
|
NM_170707.4(LMNA):c.136A>G (p.Ile46Val)
|
rs267607615
|
|
NM_170707.4(LMNA):c.1374C>T (p.Ser458=)
|
rs1572364784
|
|
NM_170707.4(LMNA):c.1377dup (p.Glu460Ter)
|
rs2102891579
|
|
NM_170707.4(LMNA):c.137T>A (p.Ile46Asn)
|
rs1060502213
|
|
NM_170707.4(LMNA):c.1380+13T>C
|
|
|
NM_170707.4(LMNA):c.1380+14C>G
|
|
|
NM_170707.4(LMNA):c.1380+17G>A
|
rs2102891710
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
NM_170707.4(LMNA):c.1380+2T>G
|
rs1553265924
|
|
NM_170707.4(LMNA):c.1380G>A (p.Glu460=)
|
rs2102891597
|
|
NM_170707.4(LMNA):c.1381-17C>A
|
rs1435399655
|
|
NM_170707.4(LMNA):c.1381-5G>T
|
|
|
NM_170707.4(LMNA):c.1381-6C>A
|
rs371635492
|
|
NM_170707.4(LMNA):c.1381-6C>G
|
rs371635492
|
|
NM_170707.4(LMNA):c.1383C>T (p.Asp461=)
|
rs1278554399
|
|
NM_170707.4(LMNA):c.138C>T (p.Ile46=)
|
rs1553261914
|
|
NM_170707.4(LMNA):c.1391T>C (p.Met464Thr)
|
rs1281896947
|
|
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)
|
rs61282106
|
|
NM_170707.4(LMNA):c.1397A>C (p.Asn466Thr)
|
rs1159123077
|
|
NM_170707.4(LMNA):c.1397del (p.Asn466fs)
|
rs58100028
|
|
NM_170707.4(LMNA):c.1398T>C (p.Asn466=)
|
|
|
NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg)
|
rs267607639
|
|
NM_170707.4(LMNA):c.139G>C (p.Asp47His)
|
rs267607608
|
|
NM_170707.4(LMNA):c.13del (p.Ser5fs)
|
rs1649695841
|
|
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)
|
rs794728613
|
|
NM_170707.4(LMNA):c.1407C>A (p.Ile469=)
|
rs1471045711
|
|
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)
|
rs28928902
|
|
NM_170707.4(LMNA):c.1413C>A (p.Arg471=)
|
|
|
NM_170707.4(LMNA):c.1413C>G (p.Arg471=)
|
rs1572365626
|
|
NM_170707.4(LMNA):c.1414C>T (p.Gln472Ter)
|
rs2102893828
|
|
NM_170707.4(LMNA):c.1417_1438dup (p.Thr480delinsLysTrpArgTer)
|
|
|
NM_170707.4(LMNA):c.141C>T (p.Asp47=)
|
rs1649715628
|
|
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu)
|
rs267607579
|
|
NM_170707.4(LMNA):c.1423G>A (p.Asp475Asn)
|
|
|
NM_170707.4(LMNA):c.1424A>G (p.Asp475Gly)
|
rs1651695560
|
|
NM_170707.4(LMNA):c.1436del (p.Leu479fs)
|
rs1553266024
|
|
NM_170707.4(LMNA):c.143G>A (p.Arg48His)
|
|
|
NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)
|
rs1572332235
|
|
NM_170707.4(LMNA):c.143G>T (p.Arg48Leu)
|
rs1572332235
|
|
NM_170707.4(LMNA):c.1444C>G (p.Arg482Gly)
|
rs57920071
|
|
NM_170707.4(LMNA):c.1447T>G (p.Phe483Val)
|
rs1651699171
|
|
NM_170707.4(LMNA):c.1453C>A (p.Pro485Thr)
|
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
NM_170707.4(LMNA):c.1459T>C (p.Phe487Leu)
|
rs1651700215
|
|
NM_170707.4(LMNA):c.1463C>A (p.Thr488Asn)
|
|
|
NM_170707.4(LMNA):c.1463C>T (p.Thr488Ile)
|
rs2102894189
|
|
NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg)
|
rs1558132909
|
|
NM_170707.4(LMNA):c.1471G>A (p.Ala491Thr)
|
|
|
NM_170707.4(LMNA):c.1473del (p.Gln493fs)
|
|
|
NM_170707.4(LMNA):c.1474G>A (p.Gly492Arg)
|
rs373480082
|
|
NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro)
|
rs1553266048
|
|
NM_170707.4(LMNA):c.1480G>A (p.Val494Met)
|
|
|
NM_170707.4(LMNA):c.1488+17T>C
|
|
|
NM_170707.4(LMNA):c.1488+1G>A
|
rs267607640
|
|
NM_170707.4(LMNA):c.1488+1G>T
|
rs267607640
|
|
NM_170707.4(LMNA):c.1488+3G>A
|
rs2102894426
|
|
NM_170707.4(LMNA):c.1488+5G>C
|
rs267607543
|
|
NM_170707.4(LMNA):c.1489-16C>T
|
rs201379016
|
|
NM_170707.4(LMNA):c.1489-16del
|
rs769175090
|
|
NM_170707.4(LMNA):c.1489-17C>A
|
|
|
NM_170707.4(LMNA):c.1489-17C>T
|
|
|
NM_170707.4(LMNA):c.1489-2A>G
|
rs879254081
|
|
NM_170707.4(LMNA):c.1489-8C>T
|
|
|
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)
|
rs57730570
|
|
NM_170707.4(LMNA):c.1496C>A (p.Ala499Asp)
|
rs2102894911
|
|
NM_170707.4(LMNA):c.1497T>A (p.Ala499=)
|
rs1431212733
|
|
NM_170707.4(LMNA):c.149G>T (p.Arg50Leu)
|
rs60695352
|
|
NM_170707.4(LMNA):c.1500A>G (p.Ala500=)
|
rs2102894981
|
|
NM_170707.4(LMNA):c.1501G>A (p.Gly501Arg)
|
|
|
NM_170707.4(LMNA):c.1508G>A (p.Gly503Glu)
|
|
|
NM_170707.4(LMNA):c.1510del (p.Ala504fs)
|
rs1572366216
|
|
NM_170707.4(LMNA):c.1516del (p.His506fs)
|
rs1558133157
|
|
NM_170707.4(LMNA):c.151T>C (p.Ser51Pro)
|
rs1649717627
|
|
NM_170707.4(LMNA):c.1521C>A (p.Ser507Arg)
|
|
|
NM_170707.4(LMNA):c.1523C>A (p.Pro508His)
|
rs1164522299
|
|
NM_170707.4(LMNA):c.1523C>T (p.Pro508Leu)
|
rs1164522299
|
|
NM_170707.4(LMNA):c.1525C>A (p.Pro509Thr)
|
rs762847359
|
|
NM_170707.4(LMNA):c.1525C>T (p.Pro509Ser)
|
rs762847359
|
|
NM_170707.4(LMNA):c.1526del (p.Pro509fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.152C>G (p.Ser51Trp)
|
|
|
NM_170707.4(LMNA):c.152C>T (p.Ser51Leu)
|
rs1366035491
|
|
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn)
|
rs759408439
|
|
NM_170707.4(LMNA):c.1533C>A (p.Asp511Glu)
|
|
|
NM_170707.4(LMNA):c.1534C>T (p.Leu512=)
|
rs2102895384
|
|
NM_170707.4(LMNA):c.1536G>A (p.Leu512=)
|
rs1208359364
|
|
NM_170707.4(LMNA):c.1539G>A (p.Val513=)
|
rs2102895431
|
|
NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)
|
rs1572366412
|
|
NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter)
|
rs2102895466
|
|
NM_170707.4(LMNA):c.1546G>A (p.Ala516Thr)
|
rs1383314305
|
|
NM_170707.4(LMNA):c.1547C>T (p.Ala516Val)
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1551_1587dup (p.Leu530fs)
|
rs2102895541
|
|
NM_170707.4(LMNA):c.1552A>G (p.Asn518Asp)
|
rs757733890
|
|
NM_170707.4(LMNA):c.1558T>A (p.Trp520Arg)
|
rs267607557
|
|
NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)
|
rs267607557
|
|
NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)
|
|
|
NM_170707.4(LMNA):c.1565G>A (p.Cys522Tyr)
|
rs1553266145
|
|
NM_170707.4(LMNA):c.1578G>T (p.Leu526=)
|
rs1205674172
|
|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1580_1586del (p.Arg527fs)
|
rs1572366593
|
|
NM_170707.4(LMNA):c.1580dup (p.Thr528fs)
|
|
|
NM_170707.4(LMNA):c.1582_1583del (p.Thr528fs)
|
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1584G>C (p.Thr528=)
|
rs80356812
|
|
NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)
|
|
|
NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe)
|
rs1558133435
|
|
NM_170707.4(LMNA):c.1587_1590dup (p.Ile531fs)
|
rs2102896007
|
|
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)
|
rs780302064
|
|
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)
|
rs60290646
|
|
NM_170707.4(LMNA):c.1593C>A (p.Ile531=)
|
rs1651734080
|
|
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)
|
rs886043346
|
|
NM_170707.4(LMNA):c.1599del (p.Thr534fs)
|
|
|
NM_170707.4(LMNA):c.15C>T (p.Ser5=)
|
rs1572331734
|
|
NM_170707.4(LMNA):c.1600A>G (p.Thr534Ala)
|
rs1311820114
|
|
NM_170707.4(LMNA):c.1602T>C (p.Thr534=)
|
rs781763410
|
|
NM_170707.4(LMNA):c.1603G>C (p.Gly535Arg)
|
rs1304542176
|
|
NM_170707.4(LMNA):c.1606del (p.Glu536fs)
|
rs1651736894
|
|
NM_170707.4(LMNA):c.1608+14G>A
|
|
|
NM_170707.4(LMNA):c.1608+15del
|
|
|
NM_170707.4(LMNA):c.1608+16C>T
|
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.1608+2T>G
|
rs2102896324
|
|
NM_170707.4(LMNA):c.1608+4A>G
|
|
|
NM_170707.4(LMNA):c.1609-16T>C
|
|
|
NM_170707.4(LMNA):c.1609-19G>A
|
|
|
NM_170707.4(LMNA):c.1609-1G>A
|
rs111569862
|
|
NM_170707.4(LMNA):c.1609-2A>G
|
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1609-4C>T
|
rs1553266259
|
|
NM_170707.4(LMNA):c.1609-6C>T
|
rs1462219411
|
|
NM_170707.4(LMNA):c.1609-7C>T
|
rs1372108861
|
|
NM_170707.4(LMNA):c.1609-8C>G
|
rs879253917
|
|
NM_170707.4(LMNA):c.1609-9C>A
|
rs1057522558
|
|
NM_170707.4(LMNA):c.1609-9C>T
|
rs1057522558
|
|
NM_170707.4(LMNA):c.1610A>C (p.Glu537Ala)
|
|
|
NM_170707.4(LMNA):c.1613T>C (p.Val538Ala)
|
rs766555060
|
|
NM_170707.4(LMNA):c.1616C>T (p.Ala539Val)
|
rs1651778506
|
|
NM_170707.4(LMNA):c.1617C>G (p.Ala539=)
|
rs1326511337
|
|
NM_170707.4(LMNA):c.1619T>A (p.Met540Lys)
|
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1625A>G (p.Lys542Arg)
|
|
|
NM_170707.4(LMNA):c.1628T>C (p.Leu543Pro)
|
rs886042329
|
|
NM_170707.4(LMNA):c.162G>A (p.Thr54=)
|
rs1649719337
|
|
NM_170707.4(LMNA):c.162_163del (p.Asn56fs)
|
rs879253932
|
|
NM_170707.4(LMNA):c.1630G>A (p.Val544Met)
|
|
|
NM_170707.4(LMNA):c.1631T>C (p.Val544Ala)
|
|
|
NM_170707.4(LMNA):c.1634G>T (p.Arg545Leu)
|
|
|
NM_170707.4(LMNA):c.163G>T (p.Glu55Ter)
|
rs1649719689
|
|
NM_170707.4(LMNA):c.1640T>C (p.Val547Ala)
|
rs1651784382
|
|
NM_170707.4(LMNA):c.1644T>G (p.Thr548=)
|
rs2102898288
|
|
NM_170707.4(LMNA):c.1654G>A (p.Asp552Asn)
|
rs2102898356
|
|
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)
|
rs1651785654
|
|
NM_170707.4(LMNA):c.1657dup (p.Asp553fs)
|
rs1572367812
|
|
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)
|
rs748768783
|
|
NM_170707.4(LMNA):c.1660del (p.Glu554fs)
|
|
|
NM_170707.4(LMNA):c.1666G>A (p.Glu556Lys)
|
|
|
NM_170707.4(LMNA):c.1669G>C (p.Asp557His)
|
rs1651789592
|
|
NM_170707.4(LMNA):c.1670A>G (p.Asp557Gly)
|
rs1651789945
|
|
NM_170707.4(LMNA):c.1685T>A (p.Leu562His)
|
rs1057156731
|
|
NM_170707.4(LMNA):c.1687C>T (p.His563Tyr)
|
|
|
NM_170707.4(LMNA):c.1688A>G (p.His563Arg)
|
rs1651792356
|
|
NM_170707.4(LMNA):c.1690C>T (p.His564Tyr)
|
|
|
NM_170707.4(LMNA):c.1692C>A (p.His564Gln)
|
rs1215740582
|
|
NM_170707.4(LMNA):c.1696C>A (p.His566Asn)
|
|
|
NM_170707.4(LMNA):c.1696C>G (p.His566Asp)
|
rs1195284382
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
NM_170707.4(LMNA):c.1699-17C>T
|
|
|
NM_170707.4(LMNA):c.1699-18C>G
|
|
|
NM_170707.4(LMNA):c.1699-9_1699-8del
|
rs1572369030
|
|
NM_170707.4(LMNA):c.16del (p.Gln6fs)
|
rs1649696391
|
|
NM_170707.4(LMNA):c.1701C>T (p.Gly567=)
|
rs1174456476
|
|
NM_170707.4(LMNA):c.1703C>G (p.Ser568Cys)
|
rs1651856057
|
|
NM_170707.4(LMNA):c.1725C>T (p.Asp575=)
|
|
|
NM_170707.4(LMNA):c.1726C>T (p.Pro576Ser)
|
rs2102901156
|
|
NM_170707.4(LMNA):c.172G>A (p.Gly58Arg)
|
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp)
|
rs59601651
|
|
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)
|
|
|
NM_170707.4(LMNA):c.1758G>A (p.Val586=)
|
rs2102901371
|
|
NM_170707.4(LMNA):c.1759C>A (p.Leu587Met)
|
|
|
NM_170707.4(LMNA):c.1759C>T (p.Leu587=)
|
rs1252289177
|
|
NM_170707.4(LMNA):c.175C>T (p.Leu59=)
|
|
|
NM_170707.4(LMNA):c.1767G>T (p.Gly589=)
|
rs1572369259
|
|
NM_170707.4(LMNA):c.176T>A (p.Leu59Gln)
|
|
|
NM_170707.4(LMNA):c.1770C>G (p.Thr590=)
|
rs397517896
|
|
NM_170707.4(LMNA):c.1772G>A (p.Cys591Tyr)
|
rs267607556
|
|
NM_170707.4(LMNA):c.1772G>T (p.Cys591Phe)
|
rs267607556
|
|
NM_170707.4(LMNA):c.1775_1786dup (p.Gly592_Ala595dup)
|
rs2102901536
|
|
NM_170707.4(LMNA):c.1778A>G (p.Gln593Arg)
|
rs1164745437
|
|
NM_170707.4(LMNA):c.1784C>G (p.Ala595Gly)
|
|
|
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del)
|
rs2102901580
|
|
NM_170707.4(LMNA):c.1789A>G (p.Lys597Glu)
|
|
|
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)
|
rs28928900
|
|
NM_170707.4(LMNA):c.1791G>C (p.Lys597Asn)
|
|
|
NM_170707.4(LMNA):c.1791G>T (p.Lys597Asn)
|
|
|
NM_170707.4(LMNA):c.1793C>G (p.Ala598Gly)
|
rs774494686
|
|
NM_170707.4(LMNA):c.1793C>T (p.Ala598Val)
|
rs774494686
|
|
NM_170707.4(LMNA):c.1794A>G (p.Ala598=)
|
|
|
NM_170707.4(LMNA):c.1796C>G (p.Ser599Cys)
|
rs2102901662
|
|
NM_170707.4(LMNA):c.1799C>T (p.Ala600Val)
|
rs1290479309
|
|
NM_170707.4(LMNA):c.179G>A (p.Arg60His)
|
|
|
NM_170707.4(LMNA):c.1801A>C (p.Ser601Arg)
|
|
|
NM_170707.4(LMNA):c.1809A>G (p.Ser603=)
|
rs2102901712
|
|
NM_170707.4(LMNA):c.1811G>A (p.Gly604Glu)
|
rs1651865626
|
|
NM_170707.4(LMNA):c.1812_1823del (p.Ala605_Gly608del)
|
|
|
NM_170707.4(LMNA):c.1813G>T (p.Ala605Ser)
|
rs2102901753
|
|
NM_170707.4(LMNA):c.1814C>A (p.Ala605Asp)
|
|
|
NM_170707.4(LMNA):c.1815C>A (p.Ala605=)
|
rs2102901765
|
|
NM_170707.4(LMNA):c.1817A>G (p.Gln606Arg)
|
rs1651866656
|
|
NM_170707.4(LMNA):c.1818G>A (p.Gln606=)
|
rs1060504514
|
|
NM_170707.4(LMNA):c.1819del (p.Val607fs)
|
rs1064796394
|
|
NM_170707.4(LMNA):c.1824C>A (p.Gly608=)
|
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.1826G>A (p.Gly609Glu)
|
|
|
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)
|
rs1558135172
|
|
NM_170707.4(LMNA):c.182T>C (p.Leu61Pro)
|
rs1553261932
|
|
NM_170707.4(LMNA):c.1835C>T (p.Ser612Phe)
|
rs1651868666
|
|
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro)
|
rs147627124
|
|
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)
|
rs56793579
|
|
NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)
|
rs56793579
|
|
NM_170707.4(LMNA):c.1854C>T (p.Ser618=)
|
|
|
NM_170707.4(LMNA):c.1855A>C (p.Ser619Arg)
|
rs1651869846
|
|
NM_170707.4(LMNA):c.185G>T (p.Arg62Leu)
|
rs1649721643
|
|
NM_170707.4(LMNA):c.1864del (p.Val622fs)
|
|
|
NM_170707.4(LMNA):c.186dup (p.Ile63fs)
|
rs2102818068
|
|
NM_170707.4(LMNA):c.1873A>T (p.Ser625Cys)
|
rs398124550
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
NM_170707.4(LMNA):c.1880G>C (p.Arg627Pro)
|
rs745997478
|
|
NM_170707.4(LMNA):c.1882A>G (p.Ser628Gly)
|
|
|
NM_170707.4(LMNA):c.1883G>A (p.Ser628Asn)
|
|
|
NM_170707.4(LMNA):c.1885G>A (p.Val629Met)
|
rs1288315740
|
|
NM_170707.4(LMNA):c.1886T>G (p.Val629Gly)
|
|
|
NM_170707.4(LMNA):c.1887G>T (p.Val629=)
|
|
|
NM_170707.4(LMNA):c.1889G>T (p.Gly630Val)
|
|
|
NM_170707.4(LMNA):c.1892G>C (p.Gly631Ala)
|
rs267607648
|
|
NM_170707.4(LMNA):c.1893C>A (p.Gly631=)
|
rs2102902282
|
|
NM_170707.4(LMNA):c.1894A>G (p.Ser632Gly)
|
|
|
NM_170707.4(LMNA):c.1895G>A (p.Ser632Asn)
|
|
|
NM_170707.4(LMNA):c.1896dup (p.Gly633fs)
|
|
|
NM_170707.4(LMNA):c.1899G>A (p.Gly633=)
|
rs1572369732
|
|
NM_170707.4(LMNA):c.189C>A (p.Ile63=)
|
rs767976986
|
|
NM_170707.4(LMNA):c.1900G>A (p.Gly634Ser)
|
rs879254188
|
|
NM_170707.4(LMNA):c.1900G>T (p.Gly634Cys)
|
|
|
NM_170707.4(LMNA):c.1901G>T (p.Gly634Val)
|
rs1470825986
|
|
NM_170707.4(LMNA):c.1902T>C (p.Gly634=)
|
rs1572369763
|
|
NM_170707.4(LMNA):c.1907G>A (p.Ser636Asn)
|
rs2102902387
|
|
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu)
|
rs117939448
|
|
NM_170707.4(LMNA):c.1916A>G (p.Asp639Gly)
|
rs1572369800
|
|
NM_170707.4(LMNA):c.1917C>A (p.Asp639Glu)
|
rs1558135357
|
|
NM_170707.4(LMNA):c.1918A>G (p.Asn640Asp)
|
|
|
NM_170707.4(LMNA):c.1920T>A (p.Asn640Lys)
|
rs2102902482
|
|
NM_170707.4(LMNA):c.1920T>C (p.Asn640=)
|
|
|
NM_170707.4(LMNA):c.1923G>C (p.Leu641=)
|
|
|
NM_170707.4(LMNA):c.1924G>T (p.Val642Phe)
|
|
|
NM_170707.4(LMNA):c.1926C>T (p.Val642=)
|
|
|
NM_170707.4(LMNA):c.1928C>T (p.Thr643Ile)
|
rs777900936
|
|
NM_170707.4(LMNA):c.1934C>T (p.Ser645Phe)
|
rs2102902562
|
|
NM_170707.4(LMNA):c.1935C>T (p.Ser645=)
|
|
|
NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)
|
|
|
NM_170707.4(LMNA):c.1941C>T (p.Leu647=)
|
rs984562109
|
|
NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser)
|
rs775728847
|
|
NM_170707.4(LMNA):c.194A>G (p.Glu65Gly)
|
rs2102818172
|
|
NM_170707.4(LMNA):c.194A>T (p.Glu65Val)
|
|
|
NM_170707.4(LMNA):c.1957C>T (p.Pro653Ser)
|
rs2102902626
|
|
NM_170707.4(LMNA):c.195G>A (p.Glu65=)
|
|
|
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)
|
rs863225024
|
|
NM_170707.4(LMNA):c.1964C>G (p.Thr655Ser)
|
|
|
NM_170707.4(LMNA):c.1965C>G (p.Thr655=)
|
|
|
NM_170707.4(LMNA):c.1965C>T (p.Thr655=)
|
|
|
NM_170707.4(LMNA):c.1968+18dup
|
rs554157057
|
|
NM_170707.4(LMNA):c.1968+19G>C
|
|
|
NM_170707.4(LMNA):c.1969-11T>C
|
|
|
NM_170707.4(LMNA):c.1969-14G>C
|
|
|
NM_170707.4(LMNA):c.1969-18_1969-16del
|
|
|
NM_170707.4(LMNA):c.1969-1G>T
|
rs1060499873
|
|
NM_170707.4(LMNA):c.1969-8T>C
|
|
|
NM_170707.4(LMNA):c.1970G>A (p.Ser657Asn)
|
rs1651905151
|
|
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)
|
rs1023544978
|
|
NM_170707.4(LMNA):c.1971C>T (p.Ser657=)
|
rs1023544978
|
|
NM_170707.4(LMNA):c.1985G>A (p.Ser662Asn)
|
|
|
NM_170707.4(LMNA):c.1987A>T (p.Ile663Phe)
|
|
|
NM_170707.4(LMNA):c.1988T>G (p.Ile663Ser)
|
|
|
NM_170707.4(LMNA):c.1990A>T (p.Met664Leu)
|
rs748348868
|
|
NM_170707.4(LMNA):c.1991T>G (p.Met664Arg)
|
|
|
NM_170707.4(LMNA):c.19C>T (p.Arg7Trp)
|
rs1397676761
|
|
NM_170707.4(LMNA):c.1A>T (p.Met1Leu)
|
rs2102816719
|
|
NM_170707.4(LMNA):c.200A>G (p.Glu67Gly)
|
rs1649724739
|
|
NM_170707.4(LMNA):c.203A>T (p.Glu68Val)
|
rs2102818240
|
|
NM_170707.4(LMNA):c.204G>A (p.Glu68=)
|
|
|
NM_170707.4(LMNA):c.205del (p.Val69fs)
|
|
|
NM_170707.4(LMNA):c.207G>A (p.Val69=)
|
|
|
NM_170707.4(LMNA):c.208G>A (p.Val70Ile)
|
|
|
NM_170707.4(LMNA):c.210C>A (p.Val70=)
|
|
|
NM_170707.4(LMNA):c.210del (p.Ser71fs)
|
rs1649726768
|
|
NM_170707.4(LMNA):c.212G>C (p.Ser71Thr)
|
|
|
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
|
|
|
NM_170707.4(LMNA):c.214C>T (p.Arg72Cys)
|
rs17847247
|
|
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)
|
rs727504340
|
|
NM_170707.4(LMNA):c.217G>T (p.Glu73Ter)
|
rs1649727816
|
|
NM_170707.4(LMNA):c.217_239del (p.Glu73fs)
|
|
|
NM_170707.4(LMNA):c.21G>A (p.Arg7=)
|
|
|
NM_170707.4(LMNA):c.21G>C (p.Arg7=)
|
rs2102816901
|
|
NM_170707.4(LMNA):c.224C>A (p.Ser75Tyr)
|
|
|
NM_170707.4(LMNA):c.224C>T (p.Ser75Phe)
|
rs879253975
|
|
NM_170707.4(LMNA):c.226G>A (p.Gly76Ser)
|
rs745651340
|
|
NM_170707.4(LMNA):c.22C>A (p.Arg8Ser)
|
|
|
NM_170707.4(LMNA):c.22C>G (p.Arg8Gly)
|
rs1649697783
|
|
NM_170707.4(LMNA):c.22C>T (p.Arg8Cys)
|
rs1649697783
|
|
NM_170707.4(LMNA):c.230T>C (p.Ile77Thr)
|
rs876657850
|
|
NM_170707.4(LMNA):c.230T>G (p.Ile77Ser)
|
rs876657850
|
|
NM_170707.4(LMNA):c.232A>G (p.Lys78Glu)
|
rs876657851
|
|
NM_170707.4(LMNA):c.234G>C (p.Lys78Asn)
|
rs727505038
|
|
NM_170707.4(LMNA):c.236C>A (p.Ala79Asp)
|
rs1553261972
|
|
NM_170707.4(LMNA):c.238G>C (p.Ala80Pro)
|
rs2102818446
|
|
NM_170707.4(LMNA):c.239_256del (p.Ala80_Leu85del)
|
rs1649729767
|
|
NM_170707.4(LMNA):c.241T>C (p.Tyr81His)
|
rs1553261977
|
|
NM_170707.4(LMNA):c.241dup (p.Tyr81fs)
|
|
|
NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys)
|
rs879254319
|
|
NM_170707.4(LMNA):c.243C>T (p.Tyr81=)
|
rs2102818502
|
|
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)
|
rs59270054
|
|
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)
|
rs59270054
|
|
NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)
|
|
|
NM_170707.4(LMNA):c.248_251dup (p.Glu84fs)
|
rs1553261982
|
|
NM_170707.4(LMNA):c.249C>G (p.Ala83=)
|
rs746916710
|
|
NM_170707.4(LMNA):c.249C>T (p.Ala83=)
|
rs746916710
|
|
NM_170707.4(LMNA):c.24C>A (p.Arg8=)
|
rs1337375663
|
|
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)
|
rs794728602
|
|
NM_170707.4(LMNA):c.250G>T (p.Glu84Ter)
|
|
|
NM_170707.4(LMNA):c.251A>G (p.Glu84Gly)
|
|
|
NM_170707.4(LMNA):c.252G>C (p.Glu84Asp)
|
rs794728586
|
|
NM_170707.4(LMNA):c.254T>A (p.Leu85His)
|
rs28933090
|
|
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
|
|
|
NM_170707.4(LMNA):c.25G>C (p.Ala9Pro)
|
|
|
NM_170707.4(LMNA):c.261T>C (p.Asp87=)
|
rs397517900
|
|
NM_170707.4(LMNA):c.265C>G (p.Arg89Gly)
|
rs267607559
|
|
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro)
|
rs59040894
|
|
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)
|
rs59040894
|
|
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)
|
rs1445068583
|
|
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)
|
rs1306829976
|
|
NM_170707.4(LMNA):c.273C>T (p.Thr91=)
|
rs1649734316
|
|
NM_170707.4(LMNA):c.274C>G (p.Leu92Val)
|
rs267607560
|
|
NM_170707.4(LMNA):c.274del (p.Asp93fs)
|
|
|
NM_170707.4(LMNA):c.275T>C (p.Leu92Pro)
|
rs2102818731
|
|
NM_170707.4(LMNA):c.280T>C (p.Ser94Pro)
|
rs2102818745
|
|
NM_170707.4(LMNA):c.282A>G (p.Ser94=)
|
|
|
NM_170707.4(LMNA):c.283_284delinsTG (p.Val95Ter)
|
rs2102818749
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)
|
|
|
NM_170707.4(LMNA):c.294_295delinsAA (p.Arg99Ser)
|
|
|
NM_170707.4(LMNA):c.295C>T (p.Arg99Cys)
|
rs886045364
|
|
NM_170707.4(LMNA):c.297C>T (p.Arg99=)
|
|
|
NM_170707.4(LMNA):c.298G>C (p.Ala100Pro)
|
rs886044468
|
|
NM_170707.4(LMNA):c.298_299del (p.Ala100fs)
|
rs1649736692
|
|
NM_170707.4(LMNA):c.301C>T (p.Arg101Cys)
|
|
|
NM_170707.4(LMNA):c.302G>A (p.Arg101His)
|
rs267607568
|
|
NM_170707.4(LMNA):c.304C>T (p.Leu102=)
|
|
|
NM_170707.4(LMNA):c.311T>A (p.Leu104Gln)
|
rs886042953
|
|
NM_170707.4(LMNA):c.312G>C (p.Leu104=)
|
|
|
NM_170707.4(LMNA):c.313_314delinsTT (p.Glu105Leu)
|
rs2102818950
|
|
NM_170707.4(LMNA):c.315G>C (p.Glu105Asp)
|
rs2102818956
|
|
NM_170707.4(LMNA):c.317T>C (p.Leu106Pro)
|
|
|
NM_170707.4(LMNA):c.318G>C (p.Leu106=)
|
|
|
NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)
|
|
|
NM_170707.4(LMNA):c.322A>G (p.Lys108Glu)
|
|
|
NM_170707.4(LMNA):c.326T>A (p.Val109Glu)
|
rs1649740041
|
|
NM_170707.4(LMNA):c.329G>C (p.Arg110Pro)
|
rs556237236
|
|
NM_170707.4(LMNA):c.32G>T (p.Arg11Leu)
|
rs1649700040
|
|
NM_170707.4(LMNA):c.331GAG[1] (p.Glu112del)
|
rs61726474
|
|
NM_170707.4(LMNA):c.332A>G (p.Glu111Gly)
|
rs1649741467
|
|
NM_170707.4(LMNA):c.333_334delinsAT (p.Glu112Ter)
|
|
|
NM_170707.4(LMNA):c.334G>A (p.Glu112Lys)
|
rs1553262031
|
|
NM_170707.4(LMNA):c.334G>T (p.Glu112Ter)
|
rs1553262031
|
|
NM_170707.4(LMNA):c.335A>G (p.Glu112Gly)
|
rs794728587
|
|
NM_170707.4(LMNA):c.339T>A (p.Phe113Leu)
|
rs759878335
|
|
NM_170707.4(LMNA):c.339dup (p.Lys114Ter)
|
rs794728604
|
|
NM_170707.4(LMNA):c.340A>C (p.Lys114Gln)
|
rs767902515
|
|
NM_170707.4(LMNA):c.343G>A (p.Glu115Lys)
|
rs1649743062
|
|
NM_170707.4(LMNA):c.344A>T (p.Glu115Val)
|
rs794728588
|
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
|
NM_170707.4(LMNA):c.347T>C (p.Leu116Pro)
|
rs2102819141
|
|
NM_170707.4(LMNA):c.348dup (p.Lys117fs)
|
rs267607646
|
|
NM_170707.4(LMNA):c.352G>T (p.Ala118Ser)
|
rs987482450
|
|
NM_170707.4(LMNA):c.354G>A (p.Ala118=)
|
rs2102819179
|
|
NM_170707.4(LMNA):c.355C>T (p.Arg119Cys)
|
rs17856971
|
|
NM_170707.4(LMNA):c.356+10C>A
|
rs2102819259
|
|
NM_170707.4(LMNA):c.356+15G>A
|
|
|
NM_170707.4(LMNA):c.356+17G>T
|
|
|
NM_170707.4(LMNA):c.356+1G>A
|
rs794728589
|
|
NM_170707.4(LMNA):c.356+2T>A
|
|
|
NM_170707.4(LMNA):c.356+2T>G
|
|
|
NM_170707.4(LMNA):c.356+3_356+6del
|
rs1649747081
|
|
NM_170707.4(LMNA):c.356+5G>A
|
rs1572332952
|
|
NM_170707.4(LMNA):c.356G>A (p.Arg119His)
|
|
|
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)
|
rs397517902
|
|
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)
|
rs397517902
|
|
NM_170707.4(LMNA):c.357-18C>G
|
|
|
NM_170707.4(LMNA):c.357-1G>T
|
rs267607569
|
|
NM_170707.4(LMNA):c.357-2A>G
|
rs113610699
|
|
NM_170707.4(LMNA):c.357-6C>G
|
|
|
NM_170707.4(LMNA):c.357-9C>T
|
rs1186195332
|
|
NM_170707.4(LMNA):c.364A>C (p.Lys122Gln)
|
rs1222398892
|
|
NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)
|
|
|
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del)
|
rs794728597
|
|
NM_170707.4(LMNA):c.371A>G (p.Glu124Gly)
|
rs1650969002
|
|
NM_170707.4(LMNA):c.372G>A (p.Glu124=)
|
rs1572352924
|
|
NM_170707.4(LMNA):c.375T>C (p.Gly125=)
|
rs1164862537
|
|
NM_170707.4(LMNA):c.376G>A (p.Asp126Asn)
|
rs1351159308
|
|
NM_170707.4(LMNA):c.378C>A (p.Asp126Glu)
|
rs869025456
|
|
NM_170707.4(LMNA):c.378C>T (p.Asp126=)
|
|
|
NM_170707.4(LMNA):c.379C>T (p.Leu127=)
|
rs1428192739
|
|
NM_170707.4(LMNA):c.380T>C (p.Leu127Pro)
|
rs2102865527
|
|
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
|
|
|
NM_170707.4(LMNA):c.389C>A (p.Ala130Asp)
|
rs1650973990
|
|
NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)
|
rs1553264593
|
|
NM_170707.4(LMNA):c.393G>C (p.Gln131His)
|
rs2102865651
|
|
NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)
|
|
|
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
|
|
|
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)
|
rs60864230
|
|
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)
|
rs60864230
|
|
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
|
|
|
NM_170707.4(LMNA):c.3G>A (p.Met1Ile)
|
rs794728598
|
|
NM_170707.4(LMNA):c.3G>T (p.Met1Ile)
|
rs794728598
|
|
NM_170707.4(LMNA):c.400C>G (p.Leu134Val)
|
|
|
NM_170707.4(LMNA):c.405_425dup (p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu)
|
|
|
NM_170707.4(LMNA):c.409C>G (p.Leu137Val)
|
rs747998566
|
|
NM_170707.4(LMNA):c.409C>T (p.Leu137=)
|
|
|
NM_170707.4(LMNA):c.40G>A (p.Ala14Thr)
|
|
|
NM_170707.4(LMNA):c.40del (p.Ala14fs)
|
|
|
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)
|
rs60652225
|
|
NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)
|
rs2102865805
|
|
NM_170707.4(LMNA):c.423G>A (p.Leu141=)
|
rs2102865822
|
|
NM_170707.4(LMNA):c.424A>G (p.Asn142Asp)
|
rs1060502217
|
|
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)
|
rs61661343
|
|
NM_170707.4(LMNA):c.430A>G (p.Lys144Glu)
|
rs2102865891
|
|
NM_170707.4(LMNA):c.430_432del (p.Lys144del)
|
rs1553264615
|
|
NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)
|
|
|
NM_170707.4(LMNA):c.431A>G (p.Lys144Arg)
|
|
|
NM_170707.4(LMNA):c.435G>A (p.Glu145=)
|
rs1228858436
|
|
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)
|
rs397517903
|
|
NM_170707.4(LMNA):c.439G>C (p.Ala147Pro)
|
rs139875047
|
|
NM_170707.4(LMNA):c.439G>T (p.Ala147Ser)
|
rs139875047
|
|
NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)
|
rs2102817088
|
|
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)
|
rs58917027
|
|
NM_170707.4(LMNA):c.44A>C (p.Gln15Pro)
|
rs748918487
|
|
NM_170707.4(LMNA):c.450_451del (p.Ala151fs)
|
|
|
NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)
|
|
|
NM_170707.4(LMNA):c.460G>A (p.Glu154Lys)
|
|
|
NM_170707.4(LMNA):c.470C>G (p.Thr157Arg)
|
rs754097769
|
|
NM_170707.4(LMNA):c.470C>T (p.Thr157Met)
|
rs754097769
|
|
NM_170707.4(LMNA):c.471G>T (p.Thr157=)
|
rs150645079
|
|
NM_170707.4(LMNA):c.472C>T (p.Leu158=)
|
rs2102866147
|
|
NM_170707.4(LMNA):c.475G>C (p.Glu159Gln)
|
|
|
NM_170707.4(LMNA):c.478G>C (p.Gly160Arg)
|
rs765665953
|
|
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)
|
rs770799870
|
|
NM_170707.4(LMNA):c.47C>T (p.Ala16Val)
|
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.481G>T (p.Glu161Ter)
|
rs28933093
|
|
NM_170707.4(LMNA):c.489T>G (p.His163Gln)
|
rs1558126350
|
|
NM_170707.4(LMNA):c.490G>A (p.Asp164Asn)
|
|
|
NM_170707.4(LMNA):c.490G>T (p.Asp164Tyr)
|
rs751033102
|
|
NM_170707.4(LMNA):c.491A>G (p.Asp164Gly)
|
rs1650988739
|
|
NM_170707.4(LMNA):c.495G>T (p.Leu165=)
|
rs2102866374
|
|
NM_170707.4(LMNA):c.496C>A (p.Arg166=)
|
rs370200334
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)
|
rs1558115754
|
|
NM_170707.4(LMNA):c.504G>A (p.Gln168=)
|
|
|
NM_170707.4(LMNA):c.507G>A (p.Val169=)
|
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
NM_170707.4(LMNA):c.513+11C>A
|
rs1331483345
|
|
NM_170707.4(LMNA):c.513+11C>T
|
|
|
NM_170707.4(LMNA):c.513+19G>T
|
|
|
NM_170707.4(LMNA):c.513+1G>A
|
rs397517904
|
|
NM_170707.4(LMNA):c.513+1G>C
|
rs397517904
|
|
NM_170707.4(LMNA):c.513+2T>C
|
rs1553264668
|
|
NM_170707.4(LMNA):c.513+2T>G
|
rs1553264668
|
|
NM_170707.4(LMNA):c.513+45T>C
|
|
|
NM_170707.4(LMNA):c.513+45T>G
|
rs878853220
|
|
NM_170707.4(LMNA):c.513+6G>A
|
rs751256959
|
|
NM_170707.4(LMNA):c.513+6_513+20dup
|
|
|
NM_170707.4(LMNA):c.513+8C>T
|
rs1060504515
|
|
NM_170707.4(LMNA):c.513G>A (p.Lys171=)
|
rs267607542
|
|
NM_170707.4(LMNA):c.513G>C (p.Lys171Asn)
|
rs267607542
|
|
NM_170707.4(LMNA):c.514-7dup
|
rs757260455
|
|
NM_170707.4(LMNA):c.516T>A (p.Leu172=)
|
|
|
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu)
|
rs762153472
|
|
NM_170707.4(LMNA):c.526C>T (p.Leu176=)
|
rs149113760
|
|
NM_170707.4(LMNA):c.526del (p.Ala175_Leu176insTer)
|
rs2102878324
|
|
NM_170707.4(LMNA):c.528A>T (p.Leu176=)
|
rs1026599240
|
|
NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)
|
rs1553261855
|
|
NM_170707.4(LMNA):c.531T>C (p.Gly177=)
|
|
|
NM_170707.4(LMNA):c.535del (p.Ala179fs)
|
|
|
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)
|
rs1651341099
|
|
NM_170707.4(LMNA):c.553G>T (p.Asp185Tyr)
|
|
|
NM_170707.4(LMNA):c.55A>T (p.Thr19Ser)
|
|
|
NM_170707.4(LMNA):c.564G>A (p.Leu188=)
|
|
|
NM_170707.4(LMNA):c.566G>T (p.Arg189Leu)
|
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_170707.4(LMNA):c.570G>A (p.Arg190=)
|
|
|
NM_170707.4(LMNA):c.570G>C (p.Arg190=)
|
rs2102878622
|
|
NM_170707.4(LMNA):c.575A>G (p.Asp192Gly)
|
rs57045855
|
|
NM_170707.4(LMNA):c.582G>A (p.Glu194=)
|
|
|
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.590T>C (p.Leu197Pro)
|
rs1651348222
|
|
NM_170707.4(LMNA):c.591G>A (p.Leu197=)
|
rs886044049
|
|
NM_170707.4(LMNA):c.592C>A (p.Gln198Lys)
|
rs1553265165
|
|
NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)
|
rs1553265165
|
|
NM_170707.4(LMNA):c.593A>C (p.Gln198Pro)
|
rs2102878915
|
|
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
|
|
|
NM_170707.4(LMNA):c.597C>T (p.Thr199=)
|
|
|
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)
|
rs1553261858
|
|
NM_170707.4(LMNA):c.601A>T (p.Lys201Ter)
|
rs1572358860
|
|
NM_170707.4(LMNA):c.603GGA[1] (p.Glu203del)
|
rs1060502210
|
|
NM_170707.4(LMNA):c.604G>T (p.Glu202Ter)
|
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)
|
rs28933092
|
|
NM_170707.4(LMNA):c.608A>T (p.Glu203Val)
|
rs28933092
|
|
NM_170707.4(LMNA):c.609A>G (p.Glu203=)
|
rs2102879074
|
|
NM_170707.4(LMNA):c.610C>A (p.Leu204Met)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.610C>T (p.Leu204=)
|
|
|
NM_170707.4(LMNA):c.611del (p.Leu204fs)
|
rs1651352665
|
|
NM_170707.4(LMNA):c.614A>G (p.Asp205Gly)
|
rs1651353565
|
|
NM_170707.4(LMNA):c.615C>T (p.Asp205=)
|
|
|
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)
|
|
|
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)
|
rs1085307888
|
|
NM_170707.4(LMNA):c.622A>C (p.Lys208Gln)
|
rs770744765
|
|
NM_170707.4(LMNA):c.623_626dup (p.Asn209fs)
|
rs2102879250
|
|
NM_170707.4(LMNA):c.624G>A (p.Lys208=)
|
rs1651355363
|
|
NM_170707.4(LMNA):c.625A>G (p.Asn209Asp)
|
rs2102879291
|
|
NM_170707.4(LMNA):c.629T>C (p.Ile210Thr)
|
rs267607572
|
|
NM_170707.4(LMNA):c.62T>C (p.Leu21Pro)
|
rs1649704361
|
|
NM_170707.4(LMNA):c.634A>C (p.Ser212Arg)
|
|
|
NM_170707.4(LMNA):c.634A>G (p.Ser212Gly)
|
|
|
NM_170707.4(LMNA):c.636_637dup (p.Glu213fs)
|
rs2102879360
|
|
NM_170707.4(LMNA):c.639+10G>C
|
rs1266133241
|
|
NM_170707.4(LMNA):c.639+11T>C
|
|
|
NM_170707.4(LMNA):c.639+13del
|
|
|
NM_170707.4(LMNA):c.639+18C>T
|
|
|
NM_170707.4(LMNA):c.639+1G>A
|
rs869125101
|
|
NM_170707.4(LMNA):c.639+1G>T
|
rs869125101
|
|
NM_170707.4(LMNA):c.639+3G>A
|
|
|
NM_170707.4(LMNA):c.639+5G>C
|
rs778763506
|
|
NM_170707.4(LMNA):c.639+6G>A
|
|
|
NM_170707.4(LMNA):c.639+9T>C
|
rs745768694
|
|
NM_170707.4(LMNA):c.640-11A>T
|
|
|
NM_170707.4(LMNA):c.640-11_640-7dup
|
|
|
NM_170707.4(LMNA):c.640-15del
|
rs2102880354
|
|
NM_170707.4(LMNA):c.640-16C>T
|
|
|
NM_170707.4(LMNA):c.640-20C>T
|
|
|
NM_170707.4(LMNA):c.640-2A>G
|
rs1572359505
|
|
NM_170707.4(LMNA):c.640-7C>G
|
|
|
NM_170707.4(LMNA):c.640-9C>G
|
|
|
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)
|
rs61295588
|
|
NM_170707.4(LMNA):c.645G>A (p.Leu215=)
|
|
|
NM_170707.4(LMNA):c.645G>C (p.Leu215=)
|
|
|
NM_170707.4(LMNA):c.647_664dup (p.Arg216_Arg221dup)
|
rs1651388987
|
|
NM_170707.4(LMNA):c.652A>C (p.Thr218Pro)
|
rs886042966
|
|
NM_170707.4(LMNA):c.655A>T (p.Lys219Ter)
|
|
|
NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)
|
|
|
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys)
|
rs869025457
|
|
NM_170707.4(LMNA):c.669_670del (p.Glu223fs)
|
|
|
NM_170707.4(LMNA):c.671C>T (p.Thr224Ile)
|
rs1651393059
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)
|
|
|
NM_170707.4(LMNA):c.674G>T (p.Arg225Leu)
|
rs199474724
|
|
NM_170707.4(LMNA):c.676C>G (p.Leu226Val)
|
|
|
NM_170707.4(LMNA):c.678G>T (p.Leu226=)
|
|
|
NM_170707.4(LMNA):c.679G>A (p.Val227Met)
|
|
|
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)
|
rs727505357
|
|
NM_170707.4(LMNA):c.687T>C (p.Ile229=)
|
rs2102880818
|
|
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)
|
rs773349450
|
|
NM_170707.4(LMNA):c.691A>G (p.Asn231Asp)
|
|
|
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)
|
rs57207746
|
|
NM_170707.4(LMNA):c.696G>C (p.Gly232=)
|
|
|
NM_170707.4(LMNA):c.699G>A (p.Lys233=)
|
rs1340480656
|
|
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)
|
rs267607573
|
|
NM_170707.4(LMNA):c.702G>C (p.Gln234His)
|
rs1558129394
|
|
NM_170707.4(LMNA):c.703C>T (p.Arg235Cys)
|
rs201227908
|
|
NM_170707.4(LMNA):c.705del (p.Glu236fs)
|
rs1651401067
|
|
NM_170707.4(LMNA):c.705dup (p.Glu236Ter)
|
|
|
NM_170707.4(LMNA):c.707del (p.Glu236fs)
|
|
|
NM_170707.4(LMNA):c.70_71insGCCGGGTGCGCTGTCGCCCA (p.Thr24fs)
|
|
|
NM_170707.4(LMNA):c.711T>C (p.Phe237=)
|
rs768081358
|
|
NM_170707.4(LMNA):c.711_716del (p.Glu238_Ser239del)
|
|
|
NM_170707.4(LMNA):c.719G>A (p.Arg240Gln)
|
|
|
NM_170707.4(LMNA):c.719G>T (p.Arg240Leu)
|
|
|
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)
|
rs1195524446
|
|
NM_170707.4(LMNA):c.720_730del (p.Leu241fs)
|
|
|
NM_170707.4(LMNA):c.725C>A (p.Ala242Glu)
|
|
|
NM_170707.4(LMNA):c.727G>A (p.Asp243Asn)
|
|
|
NM_170707.4(LMNA):c.728A>T (p.Asp243Val)
|
rs1572359925
|
|
NM_170707.4(LMNA):c.729T>C (p.Asp243=)
|
rs753243743
|
|
NM_170707.4(LMNA):c.729T>G (p.Asp243Glu)
|
rs753243743
|
|
NM_170707.4(LMNA):c.729dup (p.Ala244fs)
|
rs1553265328
|
|
NM_170707.4(LMNA):c.72C>T (p.Thr24=)
|
rs1572331957
|
|
NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)
|
|
|
NM_170707.4(LMNA):c.734dup (p.Gln246fs)
|
|
|
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)
|
rs267607587
|
|
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys)
|
rs727504373
|
|
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)
|
rs58327533
|
|
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)
|
rs58327533
|
|
NM_170707.4(LMNA):c.73del (p.Arg25fs)
|
rs1558115970
|
|
NM_170707.4(LMNA):c.740_748del (p.Glu247_Arg249del)
|
rs1572359991
|
|
NM_170707.4(LMNA):c.743T>G (p.Leu248Arg)
|
rs58850446
|
|
NM_170707.4(LMNA):c.744G>C (p.Leu248=)
|
|
|
NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp)
|
rs1553265342
|
|
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)
|
rs121912496
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.745_746insAT (p.Arg249fs)
|
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr)
|
rs1572360042
|
|
NM_170707.4(LMNA):c.74G>A (p.Arg25His)
|
|
|
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)
|
rs61578124
|
|
NM_170707.4(LMNA):c.750C>T (p.Ala250=)
|
rs2102881551
|
|
NM_170707.4(LMNA):c.754C>A (p.His252Asn)
|
rs2102881566
|
|
NM_170707.4(LMNA):c.755A>G (p.His252Arg)
|
|
|
NM_170707.4(LMNA):c.755dup (p.His252fs)
|
|
|
NM_170707.4(LMNA):c.756T>C (p.His252=)
|
|
|
NM_170707.4(LMNA):c.757G>A (p.Glu253Lys)
|
|
|
NM_170707.4(LMNA):c.758_810+70del
|
|
|
NM_170707.4(LMNA):c.75C>T (p.Arg25=)
|
rs80356804
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu)
|
rs1558129629
|
|
NM_170707.4(LMNA):c.763del (p.Gln255fs)
|
rs397517908
|
|
NM_170707.4(LMNA):c.765G>A (p.Gln255=)
|
rs1651412868
|
|
NM_170707.4(LMNA):c.76A>G (p.Ile26Val)
|
|
|
NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer)
|
|
|
NM_170707.4(LMNA):c.772C>G (p.Gln258Glu)
|
rs2102881769
|
|
NM_170707.4(LMNA):c.773A>G (p.Gln258Arg)
|
|
|
NM_170707.4(LMNA):c.774G>A (p.Gln258=)
|
rs2102881783
|
|
NM_170707.4(LMNA):c.778A>G (p.Lys260Glu)
|
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.779A>C (p.Lys260Thr)
|
rs2102881862
|
|
NM_170707.4(LMNA):c.781A>G (p.Lys261Glu)
|
|
|
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)
|
rs397517909
|
|
NM_170707.4(LMNA):c.786G>A (p.Glu262=)
|
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
NM_170707.4(LMNA):c.788T>A (p.Leu263Gln)
|
rs267607625
|
|
NM_170707.4(LMNA):c.790_792del (p.Glu264del)
|
rs1553265369
|
|
NM_170707.4(LMNA):c.791AGA[1] (p.Lys265del)
|
rs1553265371
|
|
NM_170707.4(LMNA):c.792_793insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGGAGCTGGAG (p.Lys265delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_170707.4(LMNA):c.793A>G (p.Lys265Glu)
|
|
|
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)
|
rs267607593
|
|
NM_170707.4(LMNA):c.800_802dup (p.Tyr267dup)
|
rs2102882045
|
|
NM_170707.4(LMNA):c.805G>C (p.Ala269Pro)
|
rs1558129744
|
|
NM_170707.4(LMNA):c.808A>C (p.Lys270Gln)
|
rs879253920
|
|
NM_170707.4(LMNA):c.80C>G (p.Thr27Ser)
|
rs863225270
|
|
NM_170707.4(LMNA):c.810+13G>A
|
rs11264444
|
|
NM_170707.4(LMNA):c.810+17G>A
|
rs771192755
|
|
NM_170707.4(LMNA):c.810+19T>C
|
|
|
NM_170707.4(LMNA):c.810+1G>A
|
rs267607632
|
|
NM_170707.4(LMNA):c.810+2T>C
|
rs2102882192
|
|
NM_170707.4(LMNA):c.810+32_1323del
|
|
|
NM_170707.4(LMNA):c.810+4C>A
|
rs780196737
|
|
NM_170707.4(LMNA):c.810+4C>G
|
rs780196737
|
|
NM_170707.4(LMNA):c.811-1G>A
|
rs1365042239
|
|
NM_170707.4(LMNA):c.811-2A>G
|
rs2102883099
|
|
NM_170707.4(LMNA):c.811-4C>G
|
rs2102883092
|
|
NM_170707.4(LMNA):c.811-9C>A
|
|
|
NM_170707.4(LMNA):c.822C>G (p.Ala274=)
|
rs1572360747
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
NM_170707.4(LMNA):c.824G>A (p.Arg275Lys)
|
|
|
NM_170707.4(LMNA):c.827A>C (p.Gln276Pro)
|
|
|
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)
|
rs59914820
|
|
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)
|
rs1553265433
|
|
NM_170707.4(LMNA):c.838A>G (p.Arg280Gly)
|
|
|
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)
|
rs886043109
|
|
NM_170707.4(LMNA):c.843C>G (p.Asn281Lys)
|
|
|
NM_170707.4(LMNA):c.843C>T (p.Asn281=)
|
rs1651447057
|
|
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)
|
rs886043260
|
|
NM_170707.4(LMNA):c.852G>A (p.Leu284=)
|
rs1273837882
|
|
NM_170707.4(LMNA):c.852G>C (p.Leu284=)
|
rs1273837882
|
|
NM_170707.4(LMNA):c.852G>T (p.Leu284=)
|
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
NM_170707.4(LMNA):c.857_859del (p.Gly286del)
|
rs59564495
|
|
NM_170707.4(LMNA):c.859G>A (p.Ala287Thr)
|
|
|
NM_170707.4(LMNA):c.860C>T (p.Ala287Val)
|
rs397517910
|
|
NM_170707.4(LMNA):c.866A>C (p.His289Pro)
|
rs1558130062
|
|
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)
|
rs397517912
|
|
NM_170707.4(LMNA):c.869A>T (p.Glu290Val)
|
rs1651453317
|
|
NM_170707.4(LMNA):c.873G>A (p.Glu291=)
|
|
|
NM_170707.4(LMNA):c.875T>G (p.Leu292Arg)
|
rs1572361004
|
|
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu)
|
rs1553265455
|
|
NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)
|
rs1553265455
|
|
NM_170707.4(LMNA):c.878A>C (p.Gln293Pro)
|
|
|
NM_170707.4(LMNA):c.878A>G (p.Gln293Arg)
|
|
|
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)
|
rs1651454980
|
|
NM_170707.4(LMNA):c.87G>T (p.Leu29=)
|
|
|
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro)
|
rs267607633
|
|
NM_170707.4(LMNA):c.884C>A (p.Ser295Ter)
|
|
|
NM_170707.4(LMNA):c.884C>G (p.Ser295Trp)
|
|
|
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)
|
rs797044758
|
|
NM_170707.4(LMNA):c.887G>C (p.Arg296Pro)
|
rs1024051591
|
|
NM_170707.4(LMNA):c.887G>T (p.Arg296Leu)
|
|
|
NM_170707.4(LMNA):c.888C>T (p.Arg296=)
|
|
|
NM_170707.4(LMNA):c.889A>G (p.Ile297Val)
|
rs886043082
|
|
NM_170707.4(LMNA):c.88C>G (p.Gln30Glu)
|
rs2102817413
|
|
NM_170707.4(LMNA):c.890T>G (p.Ile297Ser)
|
rs1060502212
|
|
NM_170707.4(LMNA):c.893G>A (p.Arg298His)
|
|
|
NM_170707.4(LMNA):c.893G>C (p.Arg298Pro)
|
rs762653476
|
|
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu)
|
rs762653476
|
|
NM_170707.4(LMNA):c.894C>T (p.Arg298=)
|
|
|
NM_170707.4(LMNA):c.897C>T (p.Ile299=)
|
rs762718963
|
|
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)
|
rs267607591
|
|
NM_170707.4(LMNA):c.8C>A (p.Thr3Asn)
|
rs1235021953
|
|
NM_170707.4(LMNA):c.902G>A (p.Ser301Asn)
|
rs546272425
|
|
NM_170707.4(LMNA):c.902G>C (p.Ser301Thr)
|
|
|
NM_170707.4(LMNA):c.902_905dup (p.Ser303fs)
|
|
|
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)
|
rs59684335
|
|
NM_170707.4(LMNA):c.909T>A (p.Ser303=)
|
rs1432653704
|
|
NM_170707.4(LMNA):c.90G>A (p.Gln30=)
|
rs1325971304
|
|
NM_170707.4(LMNA):c.915G>C (p.Gln305His)
|
|
|
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)
|
rs1228406418
|
|
NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg)
|
rs2102817441
|
|
NM_170707.4(LMNA):c.91_93del (p.Glu31del)
|
rs864309525
|
|
NM_170707.4(LMNA):c.920G>A (p.Ser307Asn)
|
rs759249597
|
|
NM_170707.4(LMNA):c.920G>T (p.Ser307Ile)
|
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
NM_170707.4(LMNA):c.927C>T (p.Leu309=)
|
rs752558753
|
|
NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)
|
rs878855234
|
|
NM_170707.4(LMNA):c.92A>G (p.Glu31Gly)
|
rs1649709575
|
|
NM_170707.4(LMNA):c.931A>G (p.Lys311Glu)
|
rs2102884264
|
|
NM_170707.4(LMNA):c.934C>T (p.Gln312Ter)
|
rs1651466808
|
|
NM_170707.4(LMNA):c.936+10C>T
|
|
|
NM_170707.4(LMNA):c.936+15C>T
|
rs2102884411
|
|
NM_170707.4(LMNA):c.936+16A>G
|
|
|
NM_170707.4(LMNA):c.936+17C>T
|
|
|
NM_170707.4(LMNA):c.936+1G>A
|
rs267607588
|
|
NM_170707.4(LMNA):c.936+2T>C
|
rs797045011
|
|
NM_170707.4(LMNA):c.936G>A (p.Gln312=)
|
rs2102884287
|
|
NM_170707.4(LMNA):c.937-10C>A
|
rs1362695395
|
|
NM_170707.4(LMNA):c.937-11C>A
|
rs267607645
|
|
NM_170707.4(LMNA):c.937-11C>G
|
rs267607645
|
|
NM_170707.4(LMNA):c.937-14C>T
|
|
|
NM_170707.4(LMNA):c.937-15C>T
|
|
|
NM_170707.4(LMNA):c.937-1G>A
|
rs1553265606
|
|
NM_170707.4(LMNA):c.937-20A>G
|
|
|
NM_170707.4(LMNA):c.937-5T>C
|
rs1001248677
|
|
NM_170707.4(LMNA):c.937-6C>A
|
rs759083379
|
|
NM_170707.4(LMNA):c.937-6C>T
|
rs759083379
|
|
NM_170707.4(LMNA):c.937-7C>A
|
rs267607681
|
|
NM_170707.4(LMNA):c.937-7C>T
|
rs267607681
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
NM_170707.4(LMNA):c.937-8C>T
|
rs751707982
|
|
NM_170707.4(LMNA):c.937-9C>A
|
rs1332011298
|
|
NM_170707.4(LMNA):c.937-9_937-8delinsAG
|
rs2102886483
|
|
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)
|
rs2102886618
|
|
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)
|
rs769498020
|
|
NM_170707.4(LMNA):c.940del (p.Ala314fs)
|
|
|
NM_170707.4(LMNA):c.945C>T (p.Ala315=)
|
|
|
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)
|
rs1553261891
|
|
NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)
|
rs1553261891
|
|
NM_170707.4(LMNA):c.94_96del (p.Lys32del)
|
rs60872029
|
|
NM_170707.4(LMNA):c.951G>A (p.Glu317=)
|
rs1278448557
|
|
NM_170707.4(LMNA):c.951G>T (p.Glu317Asp)
|
rs1278448557
|
|
NM_170707.4(LMNA):c.955A>T (p.Lys319Ter)
|
|
|
NM_170707.4(LMNA):c.958del (p.Leu320fs)
|
rs397517915
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_170707.4(LMNA):c.962G>A (p.Arg321Gln)
|
rs1180922815
|
|
NM_170707.4(LMNA):c.967C>T (p.Leu323=)
|
rs1651541956
|
|
NM_170707.4(LMNA):c.969G>A (p.Leu323=)
|
rs1558130869
|
|
NM_170707.4(LMNA):c.96GGA[1] (p.Glu33del)
|
|
|
NM_170707.4(LMNA):c.971A>G (p.Glu324Gly)
|
rs2102886914
|
|
NM_170707.4(LMNA):c.973del (p.Asp325fs)
|
|
|
NM_170707.4(LMNA):c.974A>C (p.Asp325Ala)
|
|
|
NM_170707.4(LMNA):c.976T>G (p.Ser326Ala)
|
rs56851164
|
|
NM_170707.4(LMNA):c.978_979del (p.Leu327fs)
|
rs794728610
|
|
NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)
|
|
|
NM_170707.4(LMNA):c.980_995del (p.Leu327fs)
|
rs2102887031
|
|
NM_170707.4(LMNA):c.983C>T (p.Ala328Val)
|
rs1651545788
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys)
|
rs775159300
|
|
NM_170707.4(LMNA):c.988G>A (p.Glu330Lys)
|
rs1060502211
|
|
NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)
|
rs1060502211
|
|
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)
|
rs267607614
|
|
NM_170707.4(LMNA):c.991_992del (p.Arg331fs)
|
rs1553265647
|
|
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)
|
rs59301204
|
|
NM_170707.4(LMNA):c.996C>T (p.Asp332=)
|
|
|
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)
|
rs57966821
|
|
NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)
|
|
|
NM_181882.3(PRX):c.1002G>T (p.Gly334=)
|
rs755650027
|
|
NM_181882.3(PRX):c.1013C>T (p.Ala338Val)
|
rs1368840723
|
|
NM_181882.3(PRX):c.1021G>T (p.Gly341Cys)
|
rs750822167
|
|
NM_181882.3(PRX):c.104C>A (p.Ala35Glu)
|
rs138047753
|
|
NM_181882.3(PRX):c.104C>T (p.Ala35Val)
|
rs138047753
|
|
NM_181882.3(PRX):c.105G>A (p.Ala35=)
|
|
|
NM_181882.3(PRX):c.1061C>T (p.Ala354Val)
|
rs2145731516
|
|
NM_181882.3(PRX):c.108C>G (p.Gly36=)
|
rs771407657
|
|
NM_181882.3(PRX):c.1097G>A (p.Gly366Glu)
|
|
|
NM_181882.3(PRX):c.1125C>T (p.Ala375=)
|
rs2145731404
|
|
NM_181882.3(PRX):c.112G>C (p.Gly38Arg)
|
|
|
NM_181882.3(PRX):c.1134C>T (p.Ala378=)
|
|
|
NM_181882.3(PRX):c.113G>A (p.Gly38Asp)
|
|
|
NM_181882.3(PRX):c.1141A>C (p.Ser381Arg)
|
rs1049349860
|
|
NM_181882.3(PRX):c.1155G>A (p.Arg385=)
|
|
|
NM_181882.3(PRX):c.1160A>G (p.Lys387Arg)
|
rs1438526620
|
|
NM_181882.3(PRX):c.1167C>T (p.Pro389=)
|
rs1417251724
|
|
NM_181882.3(PRX):c.1169G>A (p.Arg390Lys)
|
rs2079447897
|
|
NM_181882.3(PRX):c.116_131del (p.Lys39fs)
|
|
|
NM_181882.3(PRX):c.1171del (p.Leu391fs)
|
rs2145731305
|
|
NM_181882.3(PRX):c.1177A>G (p.Met393Val)
|
rs2145731286
|
|
NM_181882.3(PRX):c.1183A>T (p.Thr395Ser)
|
|
|
NM_181882.3(PRX):c.119A>C (p.Glu40Ala)
|
rs2145741372
|
|
NM_181882.3(PRX):c.11G>A (p.Arg4Lys)
|
|
|
NM_181882.3(PRX):c.1228G>A (p.Val410Ile)
|
|
|
NM_181882.3(PRX):c.1242G>A (p.Lys414=)
|
|
|
NM_181882.3(PRX):c.1275T>G (p.Leu425=)
|
rs2145731118
|
|
NM_181882.3(PRX):c.1283G>C (p.Gly428Ala)
|
|
|
NM_181882.3(PRX):c.130G>C (p.Val44Leu)
|
|
|
NM_181882.3(PRX):c.1324G>A (p.Val442Met)
|
|
|
NM_181882.3(PRX):c.1339G>A (p.Ala447Thr)
|
rs2079445823
|
|
NM_181882.3(PRX):c.1344T>C (p.Pro448=)
|
|
|
NM_181882.3(PRX):c.1345G>A (p.Glu449Lys)
|
rs2145730978
|
|
NM_181882.3(PRX):c.134G>C (p.Arg45Pro)
|
rs751441856
|
|
NM_181882.3(PRX):c.135G>C (p.Arg45=)
|
rs779875514
|
|
NM_181882.3(PRX):c.1368C>T (p.Pro456=)
|
|
|
NM_181882.3(PRX):c.1369G>C (p.Glu457Gln)
|
rs142064826
|
|
NM_181882.3(PRX):c.1373C>T (p.Ala458Val)
|
|
|
NM_181882.3(PRX):c.138G>A (p.Glu46=)
|
rs1477884504
|
|
NM_181882.3(PRX):c.1400A>G (p.Glu467Gly)
|
rs2079445212
|
|
NM_181882.3(PRX):c.1401G>A (p.Glu467=)
|
rs572962587
|
|
NM_181882.3(PRX):c.1404G>A (p.Val468=)
|
|
|
NM_181882.3(PRX):c.1404_1481del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
|
|
|
NM_181882.3(PRX):c.140T>C (p.Leu47Pro)
|
|
|
NM_181882.3(PRX):c.1410C>G (p.Leu470=)
|
|
|
NM_181882.3(PRX):c.1416G>A (p.Lys472=)
|
|
|
NM_181882.3(PRX):c.144C>T (p.Arg48=)
|
|
|
NM_181882.3(PRX):c.1450A>G (p.Met484Val)
|
rs1462275457
|
|
NM_181882.3(PRX):c.1466T>A (p.Val489Glu)
|
rs1484709871
|
|
NM_181882.3(PRX):c.1467G>T (p.Val489=)
|
|
|
NM_181882.3(PRX):c.1473T>C (p.Leu491=)
|
|
|
NM_181882.3(PRX):c.1482A>G (p.Val494=)
|
|
|
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
|
rs1555801137
|
|
NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3])
|
rs1555801137
|
|
NM_181882.3(PRX):c.1490C>A (p.Pro497His)
|
rs1167411868
|
|
NM_181882.3(PRX):c.1491C>G (p.Pro497=)
|
rs1224453835
|
|
NM_181882.3(PRX):c.1495G>T (p.Val499Leu)
|
|
|
NM_181882.3(PRX):c.1497G>A (p.Val499=)
|
rs2145730703
|
|
NM_181882.3(PRX):c.1500_1577del (p.Leu523_Leu548del)
|
rs2079442701
|
|
NM_181882.3(PRX):c.1515A>G (p.Pro505=)
|
rs1234698192
|
|
NM_181882.3(PRX):c.151T>C (p.Ser51Pro)
|
rs1462393547
|
|
NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)
|
|
|
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
|
rs1035002145
|
|
NM_181882.3(PRX):c.1549C>T (p.Leu517Phe)
|
rs2079443162
|
|
NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs)
|
|
|
NM_181882.3(PRX):c.1558G>A (p.Val520Ile)
|
rs2079443099
|
|
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
|
|
|
NM_181882.3(PRX):c.1568_1645dup (p.Leu523_Leu548dup)
|
|
|
NM_181882.3(PRX):c.1568_1723del (p.Leu523_Leu574del)
|
rs2079440442
|
|
NM_181882.3(PRX):c.1574del (p.Val525fs)
|
rs752095452
|
|
NM_181882.3(PRX):c.1578_1601dup (p.Lys529_Met536dup)
|
rs764208864
|
|
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
|
rs753322071
|
|
NM_181882.3(PRX):c.1594_1671dup (p.Lys532_Pro557dup)
|
rs2079441294
|
|
NM_181882.3(PRX):c.1596G>A (p.Lys532=)
|
rs751136125
|
|
NM_181882.3(PRX):c.159C>G (p.Ala53=)
|
rs763507069
|
|
NM_181882.3(PRX):c.1613T>C (p.Val538Ala)
|
rs765791679
|
|
NM_181882.3(PRX):c.1613T>G (p.Val538Gly)
|
|
|
NM_181882.3(PRX):c.1617G>A (p.Pro539=)
|
|
|
NM_181882.3(PRX):c.1620G>A (p.Glu540=)
|
|
|
NM_181882.3(PRX):c.1621G>A (p.Val541Met)
|
rs764542785
|
|
NM_181882.3(PRX):c.1627C>T (p.Leu543Phe)
|
rs1370468682
|
|
NM_181882.3(PRX):c.1638_1715del (p.Ser552_Val577del)
|
rs2079440653
|
|
NM_181882.3(PRX):c.1646C>G (p.Pro549Arg)
|
rs150582069
|
|
NM_181882.3(PRX):c.1647G>A (p.Pro549=)
|
|
|
NM_181882.3(PRX):c.1657del (p.Glu553fs)
|
|
|
NM_181882.3(PRX):c.1658A>G (p.Glu553Gly)
|
rs879254301
|
|
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
|
rs2079441396
|
|
NM_181882.3(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669
|
|
NM_181882.3(PRX):c.1664A>G (p.Lys555Arg)
|
rs2145730296
|
|
NM_181882.3(PRX):c.1666_1743del (p.Leu556_Lys581del)
|
rs1599654291
|
|
NM_181882.3(PRX):c.1667T>A (p.Leu556His)
|
rs2079441335
|
|
NM_181882.3(PRX):c.1670C>T (p.Pro557Leu)
|
rs1419440307
|
|
NM_181882.3(PRX):c.1680A>C (p.Ser560=)
|
rs1194012098
|
|
NM_181882.3(PRX):c.168C>T (p.Ser56=)
|
|
|
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
|
rs1000191235
|
|
NM_181882.3(PRX):c.1696G>C (p.Glu566Gln)
|
rs2079440933
|
|
NM_181882.3(PRX):c.1708C>G (p.Pro570Ala)
|
rs2145730168
|
|
NM_181882.3(PRX):c.1711G>A (p.Glu571Lys)
|
|
|
NM_181882.3(PRX):c.1716G>A (p.Val572=)
|
rs184025564
|
|
NM_181882.3(PRX):c.1718A>G (p.Gln573Arg)
|
rs1289149165
|
|
NM_181882.3(PRX):c.1722_1723delinsCA (p.Pro575Thr)
|
rs2079440418
|
|
NM_181882.3(PRX):c.1724C>T (p.Pro575Leu)
|
rs201829675
|
|
NM_181882.3(PRX):c.1725G>A (p.Pro575=)
|
rs1043949955
|
|
NM_181882.3(PRX):c.1728A>G (p.Lys576=)
|
|
|
NM_181882.3(PRX):c.1746C>T (p.Val582=)
|
rs946852986
|
|
NM_181882.3(PRX):c.1750G>C (p.Glu584Gln)
|
rs2079440126
|
|
NM_181882.3(PRX):c.1759C>T (p.Leu587Phe)
|
rs773206299
|
|
NM_181882.3(PRX):c.1767G>A (p.Lys589=)
|
|
|
NM_181882.3(PRX):c.1768G>A (p.Val590Met)
|
rs1278199971
|
|
NM_181882.3(PRX):c.176T>C (p.Leu59Pro)
|
rs748318191
|
|
NM_181882.3(PRX):c.1775A>C (p.Glu592Ala)
|
|
|
NM_181882.3(PRX):c.178C>A (p.Gln60Lys)
|
|
|
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
|
rs774078598
|
|
NM_181882.3(PRX):c.1806A>G (p.Glu602=)
|
rs527537921
|
|
NM_181882.3(PRX):c.1813C>T (p.Leu605Phe)
|
rs1555801070
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
rs768022787
|
|
NM_181882.3(PRX):c.184+11C>T
|
|
|
NM_181882.3(PRX):c.184+13G>A
|
|
|
NM_181882.3(PRX):c.184+19T>G
|
|
|
NM_181882.3(PRX):c.184+2T>A
|
rs2079511684
|
|
NM_181882.3(PRX):c.184+2T>C
|
rs2079511684
|
|
NM_181882.3(PRX):c.184+9G>C
|
|
|
NM_181882.3(PRX):c.1845T>C (p.Asp615=)
|
|
|
NM_181882.3(PRX):c.184G>A (p.Gly62Arg)
|
rs1205438395
|
|
NM_181882.3(PRX):c.185-11C>A
|
|
|
NM_181882.3(PRX):c.185-13A>T
|
|
|
NM_181882.3(PRX):c.185-4G>T
|
rs1322328826
|
|
NM_181882.3(PRX):c.185-5C>T
|
|
|
NM_181882.3(PRX):c.185-9C>T
|
rs1555801635
|
|
NM_181882.3(PRX):c.1851C>T (p.His617=)
|
rs2145729833
|
|
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
|
rs779898963
|
|
NM_181882.3(PRX):c.1859A>G (p.Glu620Gly)
|
rs1395113048
|
|
NM_181882.3(PRX):c.1860_2123dup (p.Val714_Cys715insProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysVal)
|
|
|
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
|
rs2079438528
|
|
NM_181882.3(PRX):c.1869_1976del (p.Glu633_Pro668del)
|
rs2079436631
|
|
NM_181882.3(PRX):c.1887G>T (p.Met629Ile)
|
|
|
NM_181882.3(PRX):c.1898A>T (p.Glu633Val)
|
rs1599654002
|
|
NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1])
|
rs575492732
|
|
NM_181882.3(PRX):c.1912G>A (p.Glu638Lys)
|
rs2145729705
|
|
NM_181882.3(PRX):c.191A>G (p.Gln64Arg)
|
|
|
NM_181882.3(PRX):c.1938G>A (p.Glu646=)
|
|
|
NM_181882.3(PRX):c.1942G>T (p.Ala648Ser)
|
rs950524654
|
|
NM_181882.3(PRX):c.1947G>A (p.Val649=)
|
rs2145729571
|
|
NM_181882.3(PRX):c.1950C>G (p.Pro650=)
|
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.1953T>C (p.Asp651=)
|
|
|
NM_181882.3(PRX):c.1955T>C (p.Val652Ala)
|
rs963617308
|
|
NM_181882.3(PRX):c.1956G>A (p.Val652=)
|
|
|
NM_181882.3(PRX):c.1959C>A (p.His653Gln)
|
rs760652185
|
|
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg)
|
rs748737580
|
|
NM_181882.3(PRX):c.1980G>A (p.Pro660=)
|
rs777413169
|
|
NM_181882.3(PRX):c.1980G>T (p.Pro660=)
|
rs777413169
|
|
NM_181882.3(PRX):c.1986C>T (p.Val662=)
|
rs1279008110
|
|
NM_181882.3(PRX):c.1991A>G (p.Glu664Gly)
|
rs758728503
|
|
NM_181882.3(PRX):c.1999C>G (p.Leu667Val)
|
rs1599653741
|
|
NM_181882.3(PRX):c.1999del (p.Leu667fs)
|
|
|
NM_181882.3(PRX):c.200G>A (p.Ser67Asn)
|
rs1568710768
|
|
NM_181882.3(PRX):c.2028_2213dup (p.Glu677_Pro738dup)
|
rs2145728948
|
|
NM_181882.3(PRX):c.2032G>T (p.Val678Phe)
|
|
|
NM_181882.3(PRX):c.2033T>C (p.Val678Ala)
|
rs1568706919
|
|
NM_181882.3(PRX):c.2037A>T (p.Arg679=)
|
rs2145729366
|
|
NM_181882.3(PRX):c.2050C>T (p.Gln684Ter)
|
rs1252279085
|
|
NM_181882.3(PRX):c.205C>T (p.Arg69Ter)
|
rs2079467367
|
|
NM_181882.3(PRX):c.2067A>G (p.Ser689=)
|
|
|
NM_181882.3(PRX):c.2077C>G (p.Leu693Val)
|
rs758696889
|
|
NM_181882.3(PRX):c.2088G>A (p.Val696=)
|
rs1053269682
|
|
NM_181882.3(PRX):c.2106C>G (p.Pro702=)
|
rs183461864
|
|
NM_181882.3(PRX):c.2107G>C (p.Asp703His)
|
rs756173103
|
|
NM_181882.3(PRX):c.2113C>T (p.His705Tyr)
|
rs2079434434
|
|
NM_181882.3(PRX):c.2115C>G (p.His705Gln)
|
|
|
NM_181882.3(PRX):c.2120C>G (p.Pro707Arg)
|
|
|
NM_181882.3(PRX):c.2127G>A (p.Val709=)
|
|
|
NM_181882.3(PRX):c.2134C>T (p.Pro712Ser)
|
rs1463490551
|
|
NM_181882.3(PRX):c.2152A>G (p.Lys718Glu)
|
rs2079433906
|
|
NM_181882.3(PRX):c.2158C>T (p.Pro720Ser)
|
rs1599653417
|
|
NM_181882.3(PRX):c.2176G>A (p.Glu726Lys)
|
|
|
NM_181882.3(PRX):c.2178G>A (p.Glu726=)
|
rs761322510
|
|
NM_181882.3(PRX):c.2180_2181del (p.Ile727fs)
|
|
|
NM_181882.3(PRX):c.2184A>G (p.Lys728=)
|
rs2145729003
|
|
NM_181882.3(PRX):c.2185C>T (p.Leu729Phe)
|
rs2079433471
|
|
NM_181882.3(PRX):c.2190C>T (p.Pro730=)
|
rs1336238948
|
|
NM_181882.3(PRX):c.2202G>A (p.Glu734=)
|
|
|
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn)
|
rs779294844
|
|
NM_181882.3(PRX):c.2217T>C (p.Asp739=)
|
|
|
NM_181882.3(PRX):c.2227C>T (p.Pro743Ser)
|
|
|
NM_181882.3(PRX):c.2229C>G (p.Pro743=)
|
|
|
NM_181882.3(PRX):c.222C>T (p.Asn74=)
|
|
|
NM_181882.3(PRX):c.2241G>A (p.Leu747=)
|
|
|
NM_181882.3(PRX):c.2243C>G (p.Pro748Arg)
|
rs111252437
|
|
NM_181882.3(PRX):c.2245A>G (p.Lys749Glu)
|
rs755014286
|
|
NM_181882.3(PRX):c.2247A>G (p.Lys749=)
|
|
|
NM_181882.3(PRX):c.225C>T (p.Phe75=)
|
|
|
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
|
rs760071236
|
|
NM_181882.3(PRX):c.2261G>T (p.Arg754Leu)
|
|
|
NM_181882.3(PRX):c.227A>G (p.Lys76Arg)
|
|
|
NM_181882.3(PRX):c.2281C>T (p.Pro761Ser)
|
rs1430642282
|
|
NM_181882.3(PRX):c.2282C>G (p.Pro761Arg)
|
rs530370432
|
|
NM_181882.3(PRX):c.2289del (p.Asp765fs)
|
rs797045102
|
|
NM_181882.3(PRX):c.2292C>G (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.2292C>T (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.2293G>A (p.Asp765Asn)
|
rs541455813
|
|
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr)
|
rs541455813
|
|
NM_181882.3(PRX):c.2301del (p.Leu768fs)
|
|
|
NM_181882.3(PRX):c.2305C>T (p.Pro769Ser)
|
|
|
NM_181882.3(PRX):c.2311G>C (p.Ala771Pro)
|
rs1568706134
|
|
NM_181882.3(PRX):c.2312C>T (p.Ala771Val)
|
|
|
NM_181882.3(PRX):c.2317G>C (p.Glu773Gln)
|
|
|
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.231C>T (p.Tyr77=)
|
rs752192677
|
|
NM_181882.3(PRX):c.2330C>G (p.Pro777Arg)
|
rs2079431092
|
|
NM_181882.3(PRX):c.2331C>T (p.Pro777=)
|
|
|
NM_181882.3(PRX):c.2332A>G (p.Arg778Gly)
|
rs2079431069
|
|
NM_181882.3(PRX):c.2355G>A (p.Lys785=)
|
rs2145728615
|
|
NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)
|
|
|
NM_181882.3(PRX):c.236A>T (p.Asp79Val)
|
rs2079466924
|
|
NM_181882.3(PRX):c.2372_2392del (p.Gln791_Gly798delinsArg)
|
|
|
NM_181882.3(PRX):c.2374G>T (p.Ala792Ser)
|
|
|
NM_181882.3(PRX):c.238G>T (p.Ala80Ser)
|
|
|
NM_181882.3(PRX):c.2399A>G (p.Lys800Arg)
|
rs2145728557
|
|
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
|
rs2079430394
|
|
NM_181882.3(PRX):c.2419C>T (p.Pro807Ser)
|
|
|
NM_181882.3(PRX):c.2440T>C (p.Ser814Pro)
|
rs201809431
|
|
NM_181882.3(PRX):c.2447C>T (p.Ser816Leu)
|
rs556698543
|
|
NM_181882.3(PRX):c.2456A>G (p.Lys819Arg)
|
rs2079429870
|
|
NM_181882.3(PRX):c.2485G>C (p.Gly829Arg)
|
|
|
NM_181882.3(PRX):c.248T>G (p.Leu83Arg)
|
rs1599657876
|
|
NM_181882.3(PRX):c.24C>T (p.Ala8=)
|
|
|
NM_181882.3(PRX):c.2509C>G (p.Leu837Val)
|
|
|
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
|
rs1177784082
|
|
NM_181882.3(PRX):c.2582T>G (p.Leu861Arg)
|
rs1192034174
|
|
NM_181882.3(PRX):c.2599C>A (p.Leu867Met)
|
rs2079428174
|
|
NM_181882.3(PRX):c.2605G>A (p.Gly869Arg)
|
rs1555800819
|
|
NM_181882.3(PRX):c.2630G>T (p.Gly877Val)
|
|
|
NM_181882.3(PRX):c.2637A>G (p.Gly879=)
|
|
|
NM_181882.3(PRX):c.2641C>A (p.Arg881=)
|
rs375201649
|
|
NM_181882.3(PRX):c.2641C>T (p.Arg881Trp)
|
rs375201649
|
|
NM_181882.3(PRX):c.2645_2646inv (p.Val882Ala)
|
|
|
NM_181882.3(PRX):c.2651G>A (p.Gly884Asp)
|
rs139005780
|
|
NM_181882.3(PRX):c.2652C>T (p.Gly884=)
|
rs768242642
|
|
NM_181882.3(PRX):c.2666C>A (p.Ala889Glu)
|
rs2145728054
|
|
NM_181882.3(PRX):c.2672T>G (p.Val891Gly)
|
|
|
NM_181882.3(PRX):c.27+12C>A
|
|
|
NM_181882.3(PRX):c.27+12C>T
|
rs376353333
|
|
NM_181882.3(PRX):c.27+15G>A
|
|
|
NM_181882.3(PRX):c.27+19T>C
|
rs534546929
|
|
NM_181882.3(PRX):c.2700T>C (p.Ser900=)
|
|
|
NM_181882.3(PRX):c.2728G>C (p.Ala910Pro)
|
rs145203783
|
|
NM_181882.3(PRX):c.2744A>T (p.Glu915Val)
|
rs899773763
|
|
NM_181882.3(PRX):c.2750G>A (p.Arg917Gln)
|
|
|
NM_181882.3(PRX):c.2784T>C (p.Ser928=)
|
rs766519481
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_181882.3(PRX):c.2793C>T (p.Phe931=)
|
rs750559680
|
|
NM_181882.3(PRX):c.28-13C>T
|
|
|
NM_181882.3(PRX):c.28-14G>A
|
|
|
NM_181882.3(PRX):c.28-20C>T
|
rs757487813
|
|
NM_181882.3(PRX):c.28-4G>A
|
|
|
NM_181882.3(PRX):c.2801C>T (p.Pro934Leu)
|
|
|
NM_181882.3(PRX):c.2810G>T (p.Gly937Val)
|
|
|
NM_181882.3(PRX):c.2815_2816del (p.Ser939fs)
|
rs2145727806
|
|
NM_181882.3(PRX):c.2816C>G (p.Ser939Trp)
|
rs761769929
|
|
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.2827G>A (p.Val943Met)
|
rs1255146621
|
|
NM_181882.3(PRX):c.2843C>G (p.Ala948Gly)
|
rs2079424981
|
|
NM_181882.3(PRX):c.2853dup (p.Gly952fs)
|
rs1568704829
|
|
NM_181882.3(PRX):c.2854G>C (p.Gly952Arg)
|
rs1060502972
|
|
NM_181882.3(PRX):c.2876T>C (p.Val959Ala)
|
rs1568704784
|
|
NM_181882.3(PRX):c.2888C>T (p.Ala963Val)
|
rs1187783058
|
|
NM_181882.3(PRX):c.2898C>T (p.Leu966=)
|
|
|
NM_181882.3(PRX):c.2905G>C (p.Ala969Pro)
|
|
|
NM_181882.3(PRX):c.2910G>A (p.Arg970=)
|
|
|
NM_181882.3(PRX):c.2913G>A (p.Val971=)
|
rs1599652077
|
|
NM_181882.3(PRX):c.2913G>T (p.Val971=)
|
rs1599652077
|
|
NM_181882.3(PRX):c.2916G>T (p.Gly972=)
|
rs1555800751
|
|
NM_181882.3(PRX):c.2921_2941del (p.Glu974_Ala980del)
|
rs748965299
|
|
NM_181882.3(PRX):c.2928G>A (p.Glu976=)
|
|
|
NM_181882.3(PRX):c.2939C>A (p.Ala980Asp)
|
rs2079423739
|
|
NM_181882.3(PRX):c.2942G>A (p.Gly981Glu)
|
rs1568704659
|
|
NM_181882.3(PRX):c.2942G>T (p.Gly981Val)
|
rs1568704659
|
|
NM_181882.3(PRX):c.2960C>T (p.Pro987Leu)
|
|
|
NM_181882.3(PRX):c.296C>T (p.Thr99Ile)
|
rs561203828
|
|
NM_181882.3(PRX):c.2977A>T (p.Ile993Phe)
|
rs1234629496
|
|
NM_181882.3(PRX):c.2986C>T (p.Leu996Phe)
|
|
|
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
|
rs1231723888
|
|
NM_181882.3(PRX):c.2995G>C (p.Asp999His)
|
|
|
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu)
|
rs996865233
|
|
NM_181882.3(PRX):c.3028G>A (p.Ala1010Thr)
|
rs2079422267
|
|
NM_181882.3(PRX):c.302C>T (p.Pro101Leu)
|
rs1202652443
|
|
NM_181882.3(PRX):c.3036C>T (p.Ala1012=)
|
|
|
NM_181882.3(PRX):c.3050A>C (p.Lys1017Thr)
|
rs538922683
|
|
NM_181882.3(PRX):c.3054del (p.Arg1020fs)
|
|
|
NM_181882.3(PRX):c.3057C>G (p.Pro1019=)
|
rs1330286599
|
|
NM_181882.3(PRX):c.3060G>A (p.Arg1020=)
|
rs761267361
|
|
NM_181882.3(PRX):c.3090C>T (p.Gly1030=)
|
rs2145727261
|
|
NM_181882.3(PRX):c.3098del (p.Thr1033fs)
|
rs2145727241
|
|
NM_181882.3(PRX):c.3102G>A (p.Glu1034=)
|
rs774688060
|
|
NM_181882.3(PRX):c.3112C>T (p.Leu1038=)
|
|
|
NM_181882.3(PRX):c.311A>T (p.Asp104Val)
|
|
|
NM_181882.3(PRX):c.3120A>C (p.Pro1040=)
|
|
|
NM_181882.3(PRX):c.3130G>A (p.Glu1044Lys)
|
|
|
NM_181882.3(PRX):c.3133T>C (p.Leu1045=)
|
|
|
NM_181882.3(PRX):c.3142_3147del (p.Lys1048_Gly1049del)
|
rs764547883
|
|
NM_181882.3(PRX):c.3154T>C (p.Trp1052Arg)
|
|
|
NM_181882.3(PRX):c.3177C>G (p.Pro1059=)
|
rs2145727107
|
|
NM_181882.3(PRX):c.317C>T (p.Ala106Val)
|
rs2145734161
|
|
NM_181882.3(PRX):c.3190C>G (p.Pro1064Ala)
|
rs937051533
|
|
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser)
|
rs937051533
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_181882.3(PRX):c.320T>G (p.Leu107Arg)
|
|
|
NM_181882.3(PRX):c.3247_3248delinsTG (p.Pro1083Trp)
|
rs2079419662
|
|
NM_181882.3(PRX):c.3249G>A (p.Pro1083=)
|
|
|
NM_181882.3(PRX):c.3254A>G (p.Glu1085Gly)
|
|
|
NM_181882.3(PRX):c.3257A>G (p.Lys1086Arg)
|
|
|
NM_181882.3(PRX):c.3258G>T (p.Lys1086Asn)
|
|
|
NM_181882.3(PRX):c.3263A>G (p.Glu1088Gly)
|
rs758071572
|
|
NM_181882.3(PRX):c.3264G>A (p.Glu1088=)
|
|
|
NM_181882.3(PRX):c.3268A>C (p.Thr1090Pro)
|
|
|
NM_181882.3(PRX):c.3272C>T (p.Ala1091Val)
|
rs2145726879
|
|
NM_181882.3(PRX):c.3275del (p.Val1092fs)
|
|
|
NM_181882.3(PRX):c.3280C>T (p.Leu1094Phe)
|
rs2079418891
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|
NM_181882.3(PRX):c.3291C>T (p.Pro1097=)
|
|
|
NM_181882.3(PRX):c.3294G>A (p.Glu1098=)
|
rs1599651349
|
|
NM_181882.3(PRX):c.329G>A (p.Gly110Glu)
|
rs1309370142
|
|
NM_181882.3(PRX):c.3302T>C (p.Leu1101Pro)
|
|
|
NM_181882.3(PRX):c.3309G>A (p.Thr1103=)
|
rs557336965
|
|
NM_181882.3(PRX):c.3314G>C (p.Gly1105Ala)
|
|
|
NM_181882.3(PRX):c.3336A>G (p.Ala1112=)
|
rs779789272
|
|
NM_181882.3(PRX):c.3341G>T (p.Gly1114Val)
|
rs772043027
|
|
NM_181882.3(PRX):c.334G>A (p.Val112Met)
|
rs1374240096
|
|
NM_181882.3(PRX):c.3351_3352delinsTA (p.Val1118Ile)
|
rs2145726691
|
|
NM_181882.3(PRX):c.3352G>T (p.Val1118Phe)
|
rs143654708
|
|
NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg)
|
rs1287415463
|
|
NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)
|
|
|
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)
|
rs964195568
|
|
NM_181882.3(PRX):c.3387C>T (p.Ser1129=)
|
rs2145726595
|
|
NM_181882.3(PRX):c.3389C>G (p.Thr1130Arg)
|
rs2079417291
|
|
NM_181882.3(PRX):c.3393C>T (p.Ala1131=)
|
rs2145726580
|
|
NM_181882.3(PRX):c.3396G>C (p.Gly1132=)
|
rs2145726564
|
|
NM_181882.3(PRX):c.3400G>T (p.Val1134Leu)
|
rs786204203
|
|
NM_181882.3(PRX):c.3418G>A (p.Asp1140Asn)
|
rs1599651064
|
|
NM_181882.3(PRX):c.3445_3446insAGATGCCACCTGTG (p.Gly1149fs)
|
|
|
NM_181882.3(PRX):c.3447C>T (p.Gly1149=)
|
rs1599651000
|
|
NM_181882.3(PRX):c.344A>G (p.Tyr115Cys)
|
rs759570608
|
|
NM_181882.3(PRX):c.3453C>T (p.Ser1151=)
|
|
|
NM_181882.3(PRX):c.3459A>G (p.Pro1153=)
|
rs1599650963
|
|
NM_181882.3(PRX):c.3462G>C (p.Gln1154His)
|
rs374969898
|
|
NM_181882.3(PRX):c.3472A>C (p.Thr1158Pro)
|
|
|
NM_181882.3(PRX):c.3475G>C (p.Gly1159Arg)
|
|
|
NM_181882.3(PRX):c.3482G>A (p.Gly1161Glu)
|
|
|
NM_181882.3(PRX):c.3494C>T (p.Thr1165Ile)
|
rs2079415753
|
|
NM_181882.3(PRX):c.3502C>T (p.Gln1168Ter)
|
rs2145726269
|
|
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
|
rs567285703
|
|
NM_181882.3(PRX):c.3527CAG[1] (p.Ala1177del)
|
rs765351391
|
|
NM_181882.3(PRX):c.3531A>G (p.Ala1177=)
|
rs1465687338
|
|
NM_181882.3(PRX):c.3536G>A (p.Gly1179Asp)
|
rs1306056577
|
|
NM_181882.3(PRX):c.3537C>T (p.Gly1179=)
|
rs2079415063
|
|
NM_181882.3(PRX):c.353del (p.Lys118fs)
|
rs1568710514
|
|
NM_181882.3(PRX):c.3562C>T (p.Pro1188Ser)
|
rs878855284
|
|
NM_181882.3(PRX):c.3595G>C (p.Val1199Leu)
|
rs2145726058
|
|
NM_181882.3(PRX):c.35G>C (p.Arg12Thr)
|
|
|
NM_181882.3(PRX):c.3626G>C (p.Gly1209Ala)
|
|
|
NM_181882.3(PRX):c.3626dup (p.Val1210fs)
|
|
|
NM_181882.3(PRX):c.3637A>T (p.Met1213Leu)
|
|
|
NM_181882.3(PRX):c.3651A>G (p.Thr1217=)
|
rs2145725969
|
|
NM_181882.3(PRX):c.3672C>T (p.Asp1224=)
|
|
|
NM_181882.3(PRX):c.3681A>G (p.Leu1227=)
|
|
|
NM_181882.3(PRX):c.370G>A (p.Val124Met)
|
rs2079464852
|
|
NM_181882.3(PRX):c.3714A>C (p.Thr1238=)
|
|
|
NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
|
|
|
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)
|
rs139120811
|
|
NM_181882.3(PRX):c.3729G>A (p.Leu1243=)
|
|
|
NM_181882.3(PRX):c.3733C>T (p.Leu1245=)
|
|
|
NM_181882.3(PRX):c.3737A>G (p.Lys1246Arg)
|
rs2079412467
|
|
NM_181882.3(PRX):c.3738G>A (p.Lys1246=)
|
|
|
NM_181882.3(PRX):c.375C>T (p.Ala125=)
|
rs2145733991
|
|
NM_181882.3(PRX):c.3770G>T (p.Gly1257Val)
|
rs1424142560
|
|
NM_181882.3(PRX):c.3785A>G (p.Glu1262Gly)
|
rs2145725692
|
|
NM_181882.3(PRX):c.379C>T (p.Leu127=)
|
rs886054441
|
|
NM_181882.3(PRX):c.3801G>C (p.Gly1267=)
|
|
|
NM_181882.3(PRX):c.3802G>A (p.Ala1268Thr)
|
rs146061247
|
|
NM_181882.3(PRX):c.381+15C>T
|
|
|
NM_181882.3(PRX):c.381+16C>G
|
|
|
NM_181882.3(PRX):c.3810T>C (p.Arg1270=)
|
|
|
NM_181882.3(PRX):c.382-17C>T
|
rs889158287
|
|
NM_181882.3(PRX):c.382-19C>T
|
|
|
NM_181882.3(PRX):c.382-20C>T
|
|
|
NM_181882.3(PRX):c.3831C>G (p.Pro1277=)
|
rs577796628
|
|
NM_181882.3(PRX):c.3831C>T (p.Pro1277=)
|
rs577796628
|
|
NM_181882.3(PRX):c.3834C>T (p.Asp1278=)
|
|
|
NM_181882.3(PRX):c.3835G>C (p.Val1279Leu)
|
rs747247972
|
|
NM_181882.3(PRX):c.3846G>T (p.Ser1282=)
|
rs143289108
|
|
NM_181882.3(PRX):c.384C>T (p.Asn128=)
|
|
|
NM_181882.3(PRX):c.3856G>A (p.Gly1286Ser)
|
rs555523161
|
|
NM_181882.3(PRX):c.3859A>C (p.Asn1287His)
|
rs2145725536
|
|
NM_181882.3(PRX):c.3863A>T (p.His1288Leu)
|
rs1568702462
|
|
NM_181882.3(PRX):c.3867C>G (p.Ala1289=)
|
|
|
NM_181882.3(PRX):c.3867C>T (p.Ala1289=)
|
rs759245840
|
|
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys)
|
rs773955274
|
|
NM_181882.3(PRX):c.3868G>T (p.Glu1290Ter)
|
rs773955274
|
|
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)
|
rs765769524
|
|
NM_181882.3(PRX):c.3890A>G (p.Glu1297Gly)
|
rs2049353803
|
|
NM_181882.3(PRX):c.3900C>G (p.Ala1300=)
|
rs757223803
|
|
NM_181882.3(PRX):c.3900C>T (p.Ala1300=)
|
|
|
NM_181882.3(PRX):c.3916G>A (p.Val1306Ile)
|
|
|
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
|
rs767394584
|
|
NM_181882.3(PRX):c.3935G>T (p.Gly1312Val)
|
rs764644013
|
|
NM_181882.3(PRX):c.3961G>A (p.Glu1321Lys)
|
rs748063094
|
|
NM_181882.3(PRX):c.3972G>A (p.Glu1324=)
|
rs2145725286
|
|
NM_181882.3(PRX):c.3985C>A (p.Pro1329Thr)
|
rs1337046069
|
|
NM_181882.3(PRX):c.3997C>T (p.Leu1333=)
|
rs2145725256
|
|
NM_181882.3(PRX):c.4004G>A (p.Arg1335Gln)
|
rs1384489319
|
|
NM_181882.3(PRX):c.4028T>C (p.Met1343Thr)
|
|
|
NM_181882.3(PRX):c.4030G>A (p.Val1344Ile)
|
rs2079407989
|
|
NM_181882.3(PRX):c.4035T>A (p.Thr1345=)
|
|
|
NM_181882.3(PRX):c.4048C>T (p.Pro1350Ser)
|
|
|
NM_181882.3(PRX):c.4050del (p.Ser1351fs)
|
rs766124869
|
|
NM_181882.3(PRX):c.4056C>T (p.Pro1352=)
|
|
|
NM_181882.3(PRX):c.4058A>C (p.Glu1353Ala)
|
rs1555800424
|
|
NM_181882.3(PRX):c.4059GGA[4] (p.Glu1359_Glu1361del)
|
rs139624657
|
|
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.4059GGA[9] (p.Glu1360_Glu1361dup)
|
rs139624657
|
|
NM_181882.3(PRX):c.406A>G (p.Lys136Glu)
|
rs2079459199
|
|
NM_181882.3(PRX):c.407AGA[3] (p.Lys139del)
|
rs778666575
|
|
NM_181882.3(PRX):c.4088G>A (p.Ser1363Asn)
|
rs1197436795
|
|
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
|
rs748112276
|
|
NM_181882.3(PRX):c.4099dup (p.Ala1367fs)
|
rs768199280
|
|
NM_181882.3(PRX):c.4101C>T (p.Ala1367=)
|
|
|
NM_181882.3(PRX):c.4102_4117del (p.Ser1368fs)
|
rs1487409170
|
|
NM_181882.3(PRX):c.4108C>A (p.Arg1370Ser)
|
rs371438221
|
|
NM_181882.3(PRX):c.4108C>T (p.Arg1370Cys)
|
rs371438221
|
|
NM_181882.3(PRX):c.4109GCCGGG[3] (p.Arg1373_Val1374insGlyArg)
|
|
|
NM_181882.3(PRX):c.4110C>A (p.Arg1370=)
|
rs2145724978
|
|
NM_181882.3(PRX):c.4119GGTCCG[3] (p.1374VR[3])
|
rs748943829
|
|
NM_181882.3(PRX):c.4123C>T (p.Arg1375Trp)
|
rs1049231899
|
|
NM_181882.3(PRX):c.4124G>T (p.Arg1375Leu)
|
|
|
NM_181882.3(PRX):c.4131C>A (p.Arg1377=)
|
rs2145724900
|
|
NM_181882.3(PRX):c.4134G>A (p.Leu1378=)
|
rs2079406117
|
|
NM_181882.3(PRX):c.4169C>G (p.Ser1390Cys)
|
|
|
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)
|
rs369072136
|
|
NM_181882.3(PRX):c.4171C>T (p.Arg1391Trp)
|
rs369072136
|
|
NM_181882.3(PRX):c.4172G>C (p.Arg1391Pro)
|
rs917161355
|
|
NM_181882.3(PRX):c.4173G>A (p.Arg1391=)
|
|
|
NM_181882.3(PRX):c.4176G>A (p.Gly1392=)
|
|
|
NM_181882.3(PRX):c.4183G>A (p.Gly1395Ser)
|
|
|
NM_181882.3(PRX):c.4185C>T (p.Gly1395=)
|
|
|
NM_181882.3(PRX):c.4196C>T (p.Pro1399Leu)
|
rs764183288
|
|
NM_181882.3(PRX):c.4205_4206dup (p.Val1403fs)
|
|
|
NM_181882.3(PRX):c.4207G>A (p.Val1403Ile)
|
rs139051512
|
|
NM_181882.3(PRX):c.4217_4218insTGATGCAGCCCCCAAGTCCCCCGTCAGAGAGAA (p.Glu1405_Lys1406insAsnAspAlaAlaProLysSerProValArgGlu)
|
|
|
NM_181882.3(PRX):c.4224C>G (p.Pro1408=)
|
rs1555800370
|
|
NM_181882.3(PRX):c.4232G>A (p.Arg1411His)
|
rs1005254872
|
|
NM_181882.3(PRX):c.4240A>G (p.Arg1414Gly)
|
rs2145724711
|
|
NM_181882.3(PRX):c.4251A>G (p.Leu1417=)
|
|
|
NM_181882.3(PRX):c.4253G>A (p.Ser1418Asn)
|
rs375802521
|
|
NM_181882.3(PRX):c.4267A>C (p.Ser1423Arg)
|
rs895345246
|
|
NM_181882.3(PRX):c.4268G>A (p.Ser1423Asn)
|
rs2145724650
|
|
NM_181882.3(PRX):c.4270G>A (p.Gly1424Arg)
|
rs754032938
|
|
NM_181882.3(PRX):c.4285G>A (p.Glu1429Lys)
|
rs2145724616
|
|
NM_181882.3(PRX):c.4288G>T (p.Glu1430Ter)
|
|
|
NM_181882.3(PRX):c.4300C>T (p.Arg1434Trp)
|
|
|
NM_181882.3(PRX):c.4304T>C (p.Val1435Ala)
|
rs878855285
|
|
NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp)
|
rs1332674327
|
|
NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile)
|
rs2079403599
|
|
NM_181882.3(PRX):c.4317C>A (p.Ser1439Arg)
|
rs372280596
|
|
NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser)
|
rs368067072
|
|
NM_181882.3(PRX):c.4335A>G (p.Thr1445=)
|
|
|
NM_181882.3(PRX):c.4343C>T (p.Pro1448Leu)
|
|
|
NM_181882.3(PRX):c.4365G>A (p.Gly1455=)
|
rs2079402966
|
|
NM_181882.3(PRX):c.439G>A (p.Val147Ile)
|
|
|
NM_181882.3(PRX):c.444C>G (p.Pro148=)
|
rs765210929
|
|
NM_181882.3(PRX):c.458del (p.Pro153fs)
|
rs1599656851
|
|
NM_181882.3(PRX):c.461T>C (p.Val154Ala)
|
rs1555801518
|
|
NM_181882.3(PRX):c.464A>T (p.Asp155Val)
|
rs2079458431
|
|
NM_181882.3(PRX):c.466G>T (p.Val156Phe)
|
rs562267802
|
|
NM_181882.3(PRX):c.469G>A (p.Glu157Lys)
|
rs149219327
|
|
NM_181882.3(PRX):c.474C>T (p.Phe158=)
|
rs1286146998
|
|
NM_181882.3(PRX):c.478_492del (p.Phe160_Ser164del)
|
rs1555801508
|
|
NM_181882.3(PRX):c.479T>C (p.Phe160Ser)
|
rs2079458015
|
|
NM_181882.3(PRX):c.489C>T (p.Phe163=)
|
rs2145732977
|
|
NM_181882.3(PRX):c.500G>A (p.Arg167His)
|
rs757322355
|
|
NM_181882.3(PRX):c.509T>C (p.Leu170Pro)
|
rs1387520113
|
|
NM_181882.3(PRX):c.551C>G (p.Ala184Gly)
|
rs951064135
|
|
NM_181882.3(PRX):c.560G>A (p.Arg187His)
|
|
|
NM_181882.3(PRX):c.573T>A (p.Pro191=)
|
|
|
NM_181882.3(PRX):c.577C>T (p.Leu193=)
|
rs1007677763
|
|
NM_181882.3(PRX):c.586C>A (p.Arg196=)
|
|
|
NM_181882.3(PRX):c.586C>G (p.Arg196Gly)
|
rs104894706
|
|
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)
|
rs104894706
|
|
NM_181882.3(PRX):c.587G>A (p.Arg196Gln)
|
rs757381967
|
|
NM_181882.3(PRX):c.587G>C (p.Arg196Pro)
|
rs757381967
|
|
NM_181882.3(PRX):c.594G>T (p.Val198=)
|
|
|
NM_181882.3(PRX):c.597C>A (p.Ala199=)
|
|
|
NM_181882.3(PRX):c.597C>G (p.Ala199=)
|
rs144157275
|
|
NM_181882.3(PRX):c.598G>C (p.Glu200Gln)
|
rs767207935
|
|
NM_181882.3(PRX):c.604G>T (p.Ala202Ser)
|
rs759241041
|
|
NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
|
rs2079456028
|
|
NM_181882.3(PRX):c.615_616delinsTT (p.Arg206Trp)
|
rs1568709522
|
|
NM_181882.3(PRX):c.616C>T (p.Arg206Trp)
|
|
|
NM_181882.3(PRX):c.627del (p.Ala210fs)
|
rs1599656507
|
|
NM_181882.3(PRX):c.630C>T (p.Ala210=)
|
|
|
NM_181882.3(PRX):c.631G>A (p.Ala211Thr)
|
rs112973322
|
|
NM_181882.3(PRX):c.631G>T (p.Ala211Ser)
|
rs112973322
|
|
NM_181882.3(PRX):c.641C>A (p.Pro214His)
|
rs368874138
|
|
NM_181882.3(PRX):c.642C>G (p.Pro214=)
|
|
|
NM_181882.3(PRX):c.642dup (p.Arg215fs)
|
rs768074428
|
|
NM_181882.3(PRX):c.655G>A (p.Val219Met)
|
|
|
NM_181882.3(PRX):c.666G>A (p.Glu222=)
|
rs2145732499
|
|
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.700G>A (p.Val234Met)
|
|
|
NM_181882.3(PRX):c.703G>A (p.Glu235Lys)
|
rs2079454238
|
|
NM_181882.3(PRX):c.705G>T (p.Glu235Asp)
|
rs2079454196
|
|
NM_181882.3(PRX):c.706C>T (p.Leu236=)
|
|
|
NM_181882.3(PRX):c.717G>T (p.Pro239=)
|
rs761293957
|
|
NM_181882.3(PRX):c.730G>A (p.Ala244Thr)
|
rs771211272
|
|
NM_181882.3(PRX):c.730G>T (p.Ala244Ser)
|
rs771211272
|
|
NM_181882.3(PRX):c.731C>A (p.Ala244Glu)
|
rs118071705
|
|
NM_181882.3(PRX):c.735G>A (p.Glu245=)
|
|
|
NM_181882.3(PRX):c.740G>A (p.Gly247Asp)
|
rs1568709200
|
|
NM_181882.3(PRX):c.744C>A (p.Val248=)
|
|
|
NM_181882.3(PRX):c.74C>A (p.Ala25Glu)
|
rs1555802182
|
|
NM_181882.3(PRX):c.761C>T (p.Pro254Leu)
|
rs748153822
|
|
NM_181882.3(PRX):c.768T>G (p.Ala256=)
|
|
|
NM_181882.3(PRX):c.771C>T (p.Ala257=)
|
rs1555801357
|
|
NM_181882.3(PRX):c.773C>A (p.Pro258His)
|
rs2079453076
|
|
NM_181882.3(PRX):c.773_774dup (p.Ser259fs)
|
rs1599656136
|
|
NM_181882.3(PRX):c.774C>A (p.Pro258=)
|
|
|
NM_181882.3(PRX):c.786A>C (p.Ala262=)
|
|
|
NM_181882.3(PRX):c.800C>T (p.Ala267Val)
|
rs1030892757
|
|
NM_181882.3(PRX):c.805C>T (p.His269Tyr)
|
|
|
NM_181882.3(PRX):c.819T>C (p.Leu273=)
|
|
|
NM_181882.3(PRX):c.81C>G (p.Thr27=)
|
|
|
NM_181882.3(PRX):c.821G>A (p.Gly274Glu)
|
rs2145732081
|
|
NM_181882.3(PRX):c.822G>T (p.Gly274=)
|
|
|
NM_181882.3(PRX):c.829G>T (p.Ala277Ser)
|
rs1458620221
|
|
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
|
rs2079451762
|
|
NM_181882.3(PRX):c.847G>T (p.Val283Leu)
|
|
|
NM_181882.3(PRX):c.861C>A (p.Ala287=)
|
rs535958285
|
|
NM_181882.3(PRX):c.861C>T (p.Ala287=)
|
rs535958285
|
|
NM_181882.3(PRX):c.862G>C (p.Val288Leu)
|
rs568618329
|
|
NM_181882.3(PRX):c.876C>T (p.Val292=)
|
|
|
NM_181882.3(PRX):c.886G>A (p.Glu296Lys)
|
rs2079451469
|
|
NM_181882.3(PRX):c.888G>A (p.Glu296=)
|
|
|
NM_181882.3(PRX):c.903C>G (p.Pro301=)
|
rs2145731882
|
|
NM_181882.3(PRX):c.904T>C (p.Ser302Pro)
|
|
|
NM_181882.3(PRX):c.914C>T (p.Thr305Ile)
|
|
|
NM_181882.3(PRX):c.917T>C (p.Leu306Pro)
|
|
|
NM_181882.3(PRX):c.925C>A (p.Leu309Ile)
|
|
|
NM_181882.3(PRX):c.930C>T (p.Pro310=)
|
rs1301252557
|
|
NM_181882.3(PRX):c.946G>C (p.Glu316Gln)
|
rs1555801306
|
|
NM_181882.3(PRX):c.956T>G (p.Val319Gly)
|
|
|
NM_181882.3(PRX):c.985G>A (p.Ala329Thr)
|
rs745593860
|
|