|
NM_004304.5(ALK):c.*298C>T
|
rs1728828
|
0.99040
|
|
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val)
|
rs1670283
|
0.99030
|
|
NM_004304.5(ALK):c.27C>G (p.Leu9=)
|
rs4358080
|
0.88526
|
|
NM_004304.5(ALK):c.1500A>G (p.Gln500=)
|
rs2293564
|
0.79300
|
|
NM_016169.4(SUFU):c.1365+19T>C
|
rs12414407
|
0.68248
|
|
NM_004304.5(ALK):c.2535T>C (p.Gly845=)
|
rs2256740
|
0.63034
|
|
NM_001365951.3(KIF1B):c.*2042C>T
|
rs1536262
|
0.55000
|
|
NM_015074.3(KIF1B):c.*5019T>C
|
rs3748581
|
0.53815
|
|
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu)
|
rs1881421
|
0.47503
|
|
NM_016169.4(SUFU):c.182+16C>T
|
rs2274351
|
0.46492
|
|
NM_024426.6(WT1):c.*602A>G
|
rs5030320
|
0.45163
|
|
NM_024426.6(WT1):c.*267G>C
|
rs5030317
|
0.44381
|
|
NM_003924.4(PHOX2B):c.*1364G>A
|
rs6826373
|
0.43664
|
|
NM_001365951.3(KIF1B):c.*3911A>G
|
rs1138791
|
0.35950
|
|
NM_004484.4(GPC3):c.1292+9706A>G
|
rs2205704
|
0.35691
|
|
NM_024426.6(WT1):c.1448-49T>C
|
rs1799937
|
0.34839
|
|
NM_001365951.3(KIF1B):c.*2247G>A
|
rs1002076
|
0.32846
|
|
NM_003072.5(SMARCA4):c.1524T>C (p.His508=)
|
rs7935
|
0.32239
|
|
NM_024426.6(WT1):c.213G>T (p.Pro71=)
|
rs2234582
|
0.31689
|
|
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=)
|
rs7275
|
0.28266
|
|
NM_004304.5(ALK):c.3375C>A (p.Gly1125=)
|
rs3795850
|
0.27292
|
|
NM_024426.6(WT1):c.887+16G>A
|
rs1799933
|
0.26810
|
|
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg)
|
rs1881420
|
0.26767
|
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
|
NM_003924.4(PHOX2B):c.*1387C>T
|
rs11723860
|
0.26435
|
|
NM_004304.5(ALK):c.1155-8508A>G
|
rs4322799
|
0.25712
|
|
NM_177438.3(DICER1):c.4206+9G>T
|
rs1778057
|
0.25695
|
|
NM_004304.5(ALK):c.3359+6C>T
|
rs4622670
|
0.24182
|
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
|
NM_016169.4(SUFU):c.*1122C>T
|
rs11596235
|
0.23724
|
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
|
NM_002315.3(LMO1):c.26-3357G>T
|
rs2168101
|
0.23481
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_016169.4(SUFU):c.*2585T>C
|
rs11191355
|
0.20858
|
|
NM_004304.5(ALK):c.4165-6C>T
|
rs17007646
|
0.20768
|
|
NM_004304.5(ALK):c.3036G>A (p.Thr1012=)
|
rs2293563
|
0.17851
|
|
NM_003072.5(SMARCA4):c.4425-5330G>T
|
rs1122608
|
0.17470
|
|
NM_016169.4(SUFU):c.*2668C>T
|
rs11594179
|
0.17207
|
|
NM_024426.6(WT1):c.1122A>G (p.Arg374=)
|
rs16754
|
0.16617
|
|
NC_000011.10:g.32438918G>A
|
rs6508
|
0.16158
|
|
NM_003924.4(PHOX2B):c.*674dup
|
rs397840867
|
0.15674
|
|
NM_024426.6(WT1):c.345C>T (p.Pro115=)
|
rs1799925
|
0.15374
|
|
NM_016169.4(SUFU):c.*1373C>T
|
rs17114808
|
0.14776
|
|
NM_024426.6(WT1):c.*88A>G
|
rs5030315
|
0.14706
|
|
NM_016169.4(SUFU):c.*391A>G
|
rs2298278
|
0.14670
|
|
NM_016169.4(SUFU):c.1299T>C (p.Ile433=)
|
rs17114803
|
0.14628
|
|
NM_016169.4(SUFU):c.*1715A>G
|
rs11818043
|
0.14606
|
|
NM_016169.4(SUFU):c.*1633C>T
|
rs17114810
|
0.14323
|
|
NM_024426.6(WT1):c.*224A>G
|
rs5030316
|
0.13669
|
|
NM_024426.6(WT1):c.609C>T (p.Asn203=)
|
rs2234583
|
0.13287
|
|
NM_024426.6(WT1):c.1265-32C>A
|
rs2234593
|
0.12726
|
|
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)
|
rs2229354
|
0.10948
|
|
NM_004304.5(ALK):c.4338C>T (p.Thr1446=)
|
rs56132472
|
0.10831
|
|
NM_001365951.3(KIF1B):c.*1159G>A
|
rs4240913
|
0.09825
|
|
NM_001365951.3(KIF1B):c.*1133C>T
|
rs4240912
|
0.09823
|
|
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=)
|
rs12125492
|
0.08850
|
|
NM_003073.5(SMARCB1):c.-117C>T
|
rs11090285
|
0.08005
|
|
NM_004484.4(GPC3):c.1500T>C (p.Asp500=)
|
rs2314298
|
0.06746
|
|
NM_003072.5(SMARCA4):c.1944-19G>T
|
rs74942410
|
0.06144
|
|
NM_004484.4(GPC3):c.1626A>G (p.Ala542=)
|
rs61754631
|
0.05751
|
|
NM_016169.4(SUFU):c.-178C>T
|
rs113962600
|
0.05045
|
|
NM_003924.4(PHOX2B):c.*1662A>T
|
rs1063611
|
0.04731
|
|
NM_024426.6(WT1):c.1074A>G (p.Gln358=)
|
rs2234590
|
0.04693
|
|
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=)
|
rs28997582
|
0.04598
|
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
|
NM_003924.4(PHOX2B):c.*1347A>G
|
rs62412180
|
0.04283
|
|
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=)
|
rs9105
|
0.04127
|
|
NM_001365951.3(KIF1B):c.*2661A>T
|
rs6694522
|
0.03958
|
|
NM_001365951.3(KIF1B):c.*1361A>T
|
rs2847347
|
0.03872
|
|
NM_003072.5(SMARCA4):c.356-14A>G
|
rs111447132
|
0.03865
|
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
|
NM_003924.4(PHOX2B):c.*600T>G
|
rs73139116
|
0.03760
|
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
|
NM_177438.3(DICER1):c.4680G>A (p.Ala1560=)
|
rs61729797
|
0.03654
|
|
NM_177438.3(DICER1):c.3033G>A (p.Ala1011=)
|
rs8019857
|
0.03643
|
|
NM_001365951.3(KIF1B):c.*4392A>G
|
rs72867441
|
0.03534
|
|
NM_001365951.3(KIF1B):c.4946+9C>T
|
rs72867431
|
0.03521
|
|
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=)
|
rs17034660
|
0.03490
|
|
NM_001365951.3(KIF1B):c.3423-15del
|
rs3215996
|
0.03458
|
|
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)
|
rs17884724
|
0.03446
|
|
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=)
|
rs17001073
|
0.03431
|
|
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)
|
rs2297881
|
0.03425
|
|
NM_001365951.3(KIF1B):c.-208G>C
|
rs146663377
|
0.03420
|
|
NM_016169.4(SUFU):c.*1675G>A
|
rs41287466
|
0.03346
|
|
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)
|
rs17885864
|
0.03243
|
|
NM_024426.6(WT1):c.*820G>C
|
rs1042347
|
0.03223
|
|
NM_001365951.3(KIF1B):c.*3154A>G
|
rs41310365
|
0.03073
|
|
NM_003072.5(SMARCA4):c.2123+12C>T
|
rs17001090
|
0.03024
|
|
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=)
|
rs17001075
|
0.03015
|
|
NM_001365951.3(KIF1B):c.-80+1G>T
|
rs140240544
|
0.02890
|
|
NM_001365951.3(KIF1B):c.*1118G>A
|
rs7544928
|
0.02869
|
|
NM_004304.5(ALK):c.3408C>T (p.Ser1136=)
|
rs56146053
|
0.02769
|
|
NM_004304.5(ALK):c.*53G>C
|
rs80088378
|
0.02692
|
|
NM_004304.5(ALK):c.1427T>C (p.Val476Ala)
|
rs35093491
|
0.02566
|
|
NM_024426.6(WT1):c.*1132A>T
|
rs5030328
|
0.02340
|
|
NM_024426.6(WT1):c.*835A>G
|
rs5030322
|
0.02303
|
|
NM_024426.6(WT1):c.662-1928_662-1927del
|
rs71873106
|
0.02282
|
|
NM_001365951.3(KIF1B):c.-136C>T
|
rs181820595
|
0.02054
|
|
NM_001365951.3(KIF1B):c.608+8dup
|
rs139613776
|
0.01962
|
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
|
NM_004304.5(ALK):c.4596C>T (p.Asn1532=)
|
rs1881422
|
0.01874
|
|
NM_001365951.3(KIF1B):c.*2698G>A
|
rs115172954
|
0.01866
|
|
NM_004304.5(ALK):c.4203T>C (p.Tyr1401=)
|
rs55772745
|
0.01865
|
|
NM_177438.3(DICER1):c.2997T>G (p.Leu999=)
|
rs12018992
|
0.01764
|
|
NM_001365951.3(KIF1B):c.363+6A>C
|
rs114084418
|
0.01751
|
|
NM_004304.5(ALK):c.*111C>T
|
rs74669215
|
0.01748
|
|
NM_004304.5(ALK):c.*63A>G
|
rs182561050
|
0.01679
|
|
NM_001365951.3(KIF1B):c.*2869C>T
|
rs3748580
|
0.01676
|
|
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile)
|
rs35228363
|
0.01598
|
|
NM_003924.4(PHOX2B):c.*1381C>T
|
rs59260453
|
0.01423
|
|
NM_177438.3(DICER1):c.3198T>C (p.Thr1066=)
|
rs114964211
|
0.01414
|
|
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=)
|
rs149573400
|
0.01397
|
|
NM_004304.5(ALK):c.952+16C>T
|
rs112736234
|
0.01371
|
|
NM_004304.5(ALK):c.-5G>A
|
rs56270786
|
0.01336
|
|
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu)
|
rs61999305
|
0.01293
|
|
NM_003072.5(SMARCA4):c.1419+8C>T
|
rs115492175
|
0.01292
|
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
|
NM_004304.5(ALK):c.-273G>C
|
rs72857538
|
0.01192
|
|
NM_004484.4(GPC3):c.204G>A (p.Lys68=)
|
rs61754632
|
0.01163
|
|
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met)
|
rs77172218
|
0.01096
|
|
NM_001365951.3(KIF1B):c.*4267A>G
|
rs77474900
|
0.01073
|
|
NM_001365951.3(KIF1B):c.*712G>A
|
rs146717943
|
0.01069
|
|
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=)
|
rs116089798
|
0.01068
|
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
|
NM_003924.4(PHOX2B):c.*161G>A
|
rs114290493
|
0.01029
|
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
|
NM_016169.4(SUFU):c.*3086A>G
|
rs73342651
|
0.01014
|
|
NM_016169.4(SUFU):c.*1672A>G
|
rs117196884
|
0.01007
|
|
NM_003072.5(SMARCA4):c.4635+12G>A
|
rs34930626
|
0.01001
|
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
|
NM_016169.4(SUFU):c.*205G>A
|
rs115428806
|
0.00961
|
|
NM_177438.3(DICER1):c.1935G>A (p.Pro645=)
|
rs61751177
|
0.00958
|
|
NM_024426.6(WT1):c.*1209A>G
|
rs5030329
|
0.00900
|
|
NM_004304.5(ALK):c.645T>C (p.Leu215=)
|
rs115392387
|
0.00889
|
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
|
NM_024426.6(WT1):c.*1098C>T
|
rs5030327
|
0.00867
|
|
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)
|
rs146141457
|
0.00837
|
|
NM_016169.4(SUFU):c.*118C>T
|
rs2298277
|
0.00835
|
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
|
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)
|
rs17882335
|
0.00827
|
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
|
NM_177438.3(DICER1):c.1887G>A (p.Thr629=)
|
rs141651702
|
0.00806
|
|
NM_001365951.3(KIF1B):c.*279C>T
|
rs78490707
|
0.00800
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
|
NM_177438.3(DICER1):c.2370G>A (p.Arg790=)
|
rs112712209
|
0.00777
|
|
NM_001365951.3(KIF1B):c.3864+6A>C
|
rs114266141
|
0.00716
|
|
NM_001365951.3(KIF1B):c.4055+6A>G
|
rs76519832
|
0.00707
|
|
NM_003072.5(SMARCA4):c.4768+16G>T
|
rs151265814
|
0.00684
|
|
NM_004304.5(ALK):c.2175C>T (p.Ile725=)
|
rs57881134
|
0.00677
|
|
NM_001365951.3(KIF1B):c.*4894T>C
|
rs77885116
|
0.00664
|
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
|
NM_024426.6(WT1):c.785-20G>T
|
rs5030168
|
0.00663
|
|
NM_004304.5(ALK):c.2133C>T (p.Ser711=)
|
rs77102810
|
0.00647
|
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
|
NM_004304.5(ALK):c.1464C>T (p.Gly488=)
|
rs56165377
|
0.00615
|
|
NM_003924.4(PHOX2B):c.*80G>A
|
rs75913938
|
0.00612
|
|
NM_016169.4(SUFU):c.*3290C>G
|
rs112808377
|
0.00612
|
|
NM_016169.4(SUFU):c.-33C>T
|
rs201649559
|
0.00587
|
|
NM_003072.5(SMARCA4):c.2002-19T>C
|
rs111899994
|
0.00578
|
|
NM_004304.5(ALK):c.1719C>T (p.Thr573=)
|
rs74830770
|
0.00577
|
|
NM_177438.3(DICER1):c.5095+13C>T
|
rs116247322
|
0.00577
|
|
NM_001365951.3(KIF1B):c.*1503C>T
|
rs116167243
|
0.00570
|
|
NM_001365951.3(KIF1B):c.*3742T>C
|
rs78868210
|
0.00563
|
|
NM_004304.5(ALK):c.267C>A (p.Gly89=)
|
rs192127241
|
0.00557
|
|
NM_003072.5(SMARCA4):c.222+14T>C
|
rs112825147
|
0.00548
|
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
|
NM_177438.3(DICER1):c.5241G>A (p.Ser1747=)
|
rs114861074
|
0.00539
|
|
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)
|
rs35105793
|
0.00536
|
|
NM_001365951.3(KIF1B):c.*3341C>T
|
rs139210251
|
0.00535
|
|
NM_003073.5(SMARCB1):c.-31C>T
|
rs34276473
|
0.00535
|
|
NM_024426.6(WT1):c.*897G>C
|
rs5030324
|
0.00520
|
|
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00508
|
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
|
NM_016169.4(SUFU):c.1291T>C (p.Leu431=)
|
rs141950577
|
0.00487
|
|
NM_016169.4(SUFU):c.*2157C>T
|
rs181690906
|
0.00474
|
|
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)
|
rs757355779
|
0.00466
|
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
|
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)
|
rs114882905
|
0.00462
|
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
|
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=)
|
rs139505007
|
0.00434
|
|
NM_016169.4(SUFU):c.210T>C (p.Tyr70=)
|
rs35166585
|
0.00430
|
|
NM_016169.4(SUFU):c.12G>A (p.Leu4=)
|
rs189234140
|
0.00425
|
|
NM_024426.6(WT1):c.*16G>T
|
rs2234594
|
0.00421
|
|
NM_001365951.3(KIF1B):c.*4325G>A
|
rs141688466
|
0.00419
|
|
NM_016169.4(SUFU):c.*2720C>T
|
rs41287468
|
0.00417
|
|
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)
|
rs75413741
|
0.00415
|
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
|
NM_016169.4(SUFU):c.*505T>G
|
rs116570216
|
0.00412
|
|
NM_004304.5(ALK):c.3515+18C>T
|
rs79325200
|
0.00409
|
|
NM_003072.5(SMARCA4):c.3547-11T>C
|
rs190104006
|
0.00408
|
|
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)
|
rs34245589
|
0.00406
|
|
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)
|
rs62622817
|
0.00398
|
|
NM_003924.4(PHOX2B):c.*278T>A
|
rs73810341
|
0.00395
|
|
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
|
NM_003072.5(SMARCA4):c.1119-12C>T
|
rs113870824
|
0.00387
|
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
|
NM_003072.5(SMARCA4):c.222+18C>T
|
rs180832203
|
0.00381
|
|
NM_024426.6(WT1):c.*542G>A
|
rs142726499
|
0.00380
|
|
NM_003072.5(SMARCA4):c.1140C>T (p.His380=)
|
rs114594206
|
0.00372
|
|
NM_024426.6(WT1):c.*903G>A
|
rs5030325
|
0.00370
|
|
NM_016169.4(SUFU):c.*2172G>A
|
rs540579682
|
0.00367
|
|
NM_004304.5(ALK):c.4836G>A (p.Lys1612=)
|
rs78174819
|
0.00363
|
|
NM_001365951.3(KIF1B):c.-146C>T
|
rs867021284
|
0.00361
|
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
|
NM_003924.4(PHOX2B):c.*1126C>G
|
rs118046131
|
0.00341
|
|
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)
|
rs148192224
|
0.00335
|
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
|
NM_001365951.3(KIF1B):c.*2268C>T
|
rs574858597
|
0.00332
|
|
NM_001365951.3(KIF1B):c.*2732G>C
|
rs190725532
|
0.00331
|
|
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys)
|
rs143669846
|
0.00317
|
|
NM_016169.4(SUFU):c.*3268G>C
|
rs150653416
|
0.00308
|
|
NM_004304.5(ALK):c.2268C>T (p.Gly756=)
|
rs149853746
|
0.00304
|
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
|
NM_005243.4(EWSR1):c.582-9C>G
|
rs189387468
|
0.00302
|
|
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=)
|
rs114391904
|
0.00291
|
|
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser)
|
rs200664441
|
0.00291
|
|
NM_001365951.3(KIF1B):c.*4113C>T
|
rs192312673
|
0.00285
|
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00270
|
|
NM_016169.4(SUFU):c.*61G>A
|
rs184505927
|
0.00249
|
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
|
NM_001365951.3(KIF1B):c.*281T>C
|
rs201136295
|
0.00242
|
|
NM_003073.5(SMARCB1):c.-115C>T
|
rs551328283
|
0.00242
|
|
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)
|
rs113955216
|
0.00241
|
|
NM_177438.3(DICER1):c.1377-4T>G
|
rs192490028
|
0.00240
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00233
|
|
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile)
|
rs116202066
|
0.00232
|
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
|
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)
|
rs117525287
|
0.00228
|
|
NM_004304.5(ALK):c.592G>A (p.Val198Met)
|
rs77677701
|
0.00221
|
|
NM_001365951.3(KIF1B):c.*3930C>T
|
rs549049444
|
0.00216
|
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
|
NM_004304.5(ALK):c.2632+11dup
|
rs766699720
|
0.00205
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_003072.5(SMARCA4):c.4768+10G>A
|
rs201665695
|
0.00200
|
|
NM_001365951.3(KIF1B):c.*2895G>A
|
rs184232081
|
0.00197
|
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
|
NM_004304.5(ALK):c.1110G>A (p.Glu370=)
|
rs138784554
|
0.00195
|
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
|
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=)
|
rs61761958
|
0.00191
|
|
NM_004304.5(ALK):c.-619G>A
|
rs138384829
|
0.00190
|
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
|
NM_024426.6(WT1):c.123G>C (p.Pro41=)
|
rs555140661
|
0.00188
|
|
NM_001365951.3(KIF1B):c.*2T>C
|
rs148690591
|
0.00185
|
|
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)
|
rs144863210
|
0.00182
|
|
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=)
|
rs45562437
|
0.00174
|
|
NM_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
|
NM_003073.5(SMARCB1):c.-184G>A
|
rs563943196
|
0.00165
|
|
NM_024426.6(WT1):c.*138G>A
|
rs111351882
|
0.00165
|
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
|
NM_004304.5(ALK):c.2676C>T (p.Ala892=)
|
rs138668699
|
0.00164
|
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
|
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)
|
rs190973308
|
0.00162
|
|
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=)
|
rs61761957
|
0.00158
|
|
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)
|
rs11573598
|
0.00155
|
|
NM_001365951.3(KIF1B):c.-260C>T
|
rs149705989
|
0.00154
|
|
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)
|
rs115992445
|
0.00153
|
|
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)
|
rs147066476
|
0.00150
|
|
NM_016169.4(SUFU):c.528C>T (p.His176=)
|
rs150569584
|
0.00148
|
|
NM_004304.5(ALK):c.2915-9T>C
|
rs373765395
|
0.00144
|
|
NM_001365951.3(KIF1B):c.*3690C>A
|
rs540616562
|
0.00140
|
|
NM_004304.5(ALK):c.1817+11T>C
|
rs185559774
|
0.00139
|
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
|
NM_001365951.3(KIF1B):c.*4958G>A
|
rs150497684
|
0.00133
|
|
NM_003924.4(PHOX2B):c.*60G>A
|
rs558416040
|
0.00131
|
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
|
NM_001365951.3(KIF1B):c.*839C>T
|
rs549614550
|
0.00127
|
|
NM_001365951.3(KIF1B):c.*3035G>A
|
rs41301987
|
0.00126
|
|
NM_177438.3(DICER1):c.1908-4A>G
|
rs112284114
|
0.00123
|
|
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=)
|
rs148959399
|
0.00123
|
|
NM_177438.3(DICER1):c.5604-12G>A
|
rs149841885
|
0.00122
|
|
NM_001365951.3(KIF1B):c.3259+9A>G
|
rs149566646
|
0.00118
|
|
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)
|
rs145867502
|
0.00116
|
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
|
NM_177438.3(DICER1):c.*2359_*2360del
|
rs200215778
|
0.00115
|
|
NM_003072.5(SMARCA4):c.4171-1737T>A
|
rs199543083
|
0.00107
|
|
NM_001365951.3(KIF1B):c.*2858G>C
|
rs546229540
|
0.00104
|
|
NM_004304.5(ALK):c.4785C>T (p.Ala1595=)
|
rs76150405
|
0.00104
|
|
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=)
|
rs149562732
|
0.00103
|
|
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)
|
rs138588008
|
0.00103
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
|
NM_004304.5(ALK):c.2148C>T (p.Ser716=)
|
rs55733526
|
0.00096
|
|
NM_004304.5(ALK):c.776G>A (p.Arg259His)
|
rs138686378
|
0.00096
|
|
NM_004304.5(ALK):c.2613C>T (p.Asn871=)
|
rs150557024
|
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_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
|
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)
|
rs1881423
|
0.00091
|
|
NM_004304.5(ALK):c.2430C>T (p.Ser810=)
|
rs150292405
|
0.00086
|
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
|
NM_004304.5(ALK):c.2041+15C>T
|
rs183024732
|
0.00082
|
|
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser)
|
rs141100113
|
0.00082
|
|
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=)
|
rs148495641
|
0.00079
|
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
|
NM_001365951.3(KIF1B):c.*2114C>G
|
rs574859747
|
0.00077
|
|
NM_001365951.3(KIF1B):c.*3639T>C
|
rs551392566
|
0.00077
|
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00077
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr)
|
rs149242330
|
0.00074
|
|
NM_177438.3(DICER1):c.924C>T (p.Ala308=)
|
rs142397473
|
0.00070
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_004484.4(GPC3):c.1032+9C>T
|
rs200782847
|
0.00069
|
|
NM_001904.4(CTNNB1):c.1683+17A>G
|
rs2276826
|
0.00068
|
|
NM_003924.4(PHOX2B):c.*214A>G
|
rs994949118
|
0.00068
|
|
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile)
|
rs200769337
|
0.00068
|
|
NM_001365951.3(KIF1B):c.*256A>G
|
rs547409544
|
0.00066
|
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00066
|
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
|
NM_016169.4(SUFU):c.*476A>G
|
rs575192580
|
0.00066
|
|
NM_003924.4(PHOX2B):c.*1486T>C
|
rs530550940
|
0.00065
|
|
NM_004484.4(GPC3):c.995A>G (p.Gln332Arg)
|
rs78696048
|
0.00065
|
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
|
NM_004304.5(ALK):c.932G>A (p.Arg311His)
|
rs150966028
|
0.00063
|
|
NM_024426.6(WT1):c.*513C>T
|
rs575602262
|
0.00059
|
|
NM_001365951.3(KIF1B):c.*1238G>A
|
rs539372635
|
0.00058
|
|
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)
|
rs140024352
|
0.00058
|
|
NM_004304.5(ALK):c.-415T>C
|
rs755231246
|
0.00057
|
|
NM_003073.5(SMARCB1):c.*159C>G
|
rs1022324232
|
0.00055
|
|
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)
|
rs74774946
|
0.00055
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
|
NM_001365951.3(KIF1B):c.*1986C>G
|
rs557129908
|
0.00054
|
|
NM_004304.5(ALK):c.1277G>C (p.Ser426Thr)
|
rs111796753
|
0.00054
|
|
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)
|
rs140733978
|
0.00054
|
|
NM_004304.5(ALK):c.3939-8A>G
|
rs3738869
|
0.00054
|
|
NM_001365951.3(KIF1B):c.*3789C>T
|
rs192963286
|
0.00053
|
|
NM_004304.5(ALK):c.1234C>T (p.Arg412Cys)
|
rs147102592
|
0.00053
|
|
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=)
|
rs150831576
|
0.00052
|
|
NM_004484.4(GPC3):c.359G>A (p.Arg120His)
|
rs148021273
|
0.00052
|
|
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)
|
rs149874634
|
0.00051
|
|
NM_003073.5(SMARCB1):c.*293C>T
|
rs754865420
|
0.00051
|
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
|
NM_003924.4(PHOX2B):c.*693C>T
|
rs535962589
|
0.00051
|
|
NM_024426.6(WT1):c.1161A>G (p.Ala387=)
|
rs141834493
|
0.00051
|
|
NM_004484.4(GPC3):c.660C>T (p.Ser220=)
|
rs138450923
|
0.00050
|
|
NM_001365951.3(KIF1B):c.*663C>T
|
rs531296689
|
0.00049
|
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
|
NM_004304.5(ALK):c.2343C>T (p.Asp781=)
|
rs61754933
|
0.00048
|
|
NM_024426.6(WT1):c.-110C>T
|
rs886048241
|
0.00048
|
|
NM_003072.5(SMARCA4):c.2817C>T (p.Phe939=)
|
rs147791182
|
0.00047
|
|
NM_003072.5(SMARCA4):c.4171-13A>G
|
rs201298366
|
0.00047
|
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
|
NM_004304.5(ALK):c.2754A>T (p.Arg918Ser)
|
rs770236199
|
0.00046
|
|
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys)
|
rs56181542
|
0.00046
|
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
|
NM_004304.5(ALK):c.106C>T (p.Pro36Ser)
|
rs201490095
|
0.00045
|
|
NM_016169.4(SUFU):c.*2729T>C
|
rs574630127
|
0.00045
|
|
NM_001365951.3(KIF1B):c.1435-15C>T
|
rs371838261
|
0.00044
|
|
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)
|
rs62639303
|
0.00044
|
|
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)
|
rs142059681
|
0.00044
|
|
NM_004304.5(ALK):c.3057C>A (p.Val1019=)
|
rs138406372
|
0.00043
|
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
|
NM_004304.5(ALK):c.3067+17del
|
rs781479217
|
0.00041
|
|
NM_177438.3(DICER1):c.*1894C>T
|
rs540809100
|
0.00041
|
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
|
NM_177438.3(DICER1):c.3269+14G>A
|
rs201906274
|
0.00040
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
|
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)
|
rs139943231
|
0.00039
|
|
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)
|
rs17879258
|
0.00039
|
|
NM_004304.5(ALK):c.2451C>T (p.Gly817=)
|
rs183314518
|
0.00039
|
|
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
|
rs36049457
|
0.00039
|
|
NM_024426.6(WT1):c.375C>T (p.Gly125=)
|
rs776209354
|
0.00039
|
|
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)
|
rs141806282
|
0.00038
|
|
NM_003640.5(ELP1):c.909C>G (p.Val303=)
|
rs142420285
|
0.00038
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_001365951.3(KIF1B):c.*2019C>T
|
rs185749715
|
0.00037
|
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
|
NM_024426.6(WT1):c.216G>T (p.Gln72His)
|
rs5030135
|
0.00036
|
|
NM_004304.5(ALK):c.2204+15G>C
|
rs200910314
|
0.00035
|
|
NM_004304.5(ALK):c.2632+16C>T
|
rs200835934
|
0.00035
|
|
NM_003072.5(SMARCA4):c.2973+14G>A
|
rs372877301
|
0.00034
|
|
NM_003073.5(SMARCB1):c.*33T>G
|
rs11541580
|
0.00034
|
|
NM_024426.6(WT1):c.*12C>T
|
rs77462662
|
0.00034
|
|
NM_024426.6(WT1):c.*460C>A
|
rs886048221
|
0.00034
|
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
|
NM_003072.5(SMARCA4):c.1593+14T>A
|
rs201395711
|
0.00033
|
|
NM_004304.5(ALK):c.-751C>T
|
rs547587734
|
0.00033
|
|
NM_016169.4(SUFU):c.*2956C>T
|
rs562546771
|
0.00033
|
|
NM_003072.5(SMARCA4):c.355+11G>A
|
rs368761916
|
0.00032
|
|
NM_004304.5(ALK):c.1755C>T (p.Ala585=)
|
rs373605278
|
0.00032
|
|
NM_004484.4(GPC3):c.1254C>T (p.Asn418=)
|
rs150766741
|
0.00032
|
|
NM_024426.6(WT1):c.-76T>C
|
rs886048235
|
0.00032
|
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
|
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=)
|
rs145846362
|
0.00031
|
|
NM_004304.5(ALK):c.2633-4G>A
|
rs199575811
|
0.00031
|
|
NM_016169.4(SUFU):c.198C>T (p.Asp66=)
|
rs189500468
|
0.00031
|
|
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
|
rs201879930
|
0.00030
|
|
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)
|
rs142936491
|
0.00029
|
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
|
NM_003072.5(SMARCA4):c.3903C>T (p.Thr1301=)
|
rs147314370
|
0.00029
|
|
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=)
|
rs145934279
|
0.00029
|
|
NM_003924.4(PHOX2B):c.*737C>T
|
rs745503233
|
0.00029
|
|
NM_004304.5(ALK):c.2526C>T (p.Ala842=)
|
rs145271283
|
0.00029
|
|
NM_004304.5(ALK):c.3102G>A (p.Ser1034=)
|
rs138771319
|
0.00029
|
|
NM_016169.4(SUFU):c.318-17C>A
|
rs201198734
|
0.00029
|
|
NM_024426.6(WT1):c.*1167T>G
|
rs771770230
|
0.00029
|
|
NM_001375883.1(GPR161):c.-5T>A
|
rs200635937
|
0.00028
|
|
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=)
|
rs138764713
|
0.00028
|
|
NM_003073.5(SMARCB1):c.*15C>A
|
rs369400289
|
0.00028
|
|
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr)
|
rs201768549
|
0.00028
|
|
NM_003072.5(SMARCA4):c.1245+18C>T
|
rs376247014
|
0.00027
|
|
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)
|
rs199646095
|
0.00027
|
|
NM_016169.4(SUFU):c.*1936C>T
|
rs118033896
|
0.00027
|
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_001365951.3(KIF1B):c.*3948G>A
|
rs553404052
|
0.00026
|
|
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)
|
rs138689221
|
0.00026
|
|
NM_003072.5(SMARCA4):c.972C>T (p.Pro324=)
|
rs369239429
|
0.00026
|
|
NM_003640.5(ELP1):c.3855+19G>A
|
rs113767921
|
0.00026
|
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
|
NM_004304.5(ALK):c.118C>T (p.Pro40Ser)
|
rs371679329
|
0.00026
|
|
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)
|
rs576431612
|
0.00026
|
|
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)
|
rs372612147
|
0.00026
|
|
NM_005612.5(REST):c.898+15C>T
|
rs148949163
|
0.00026
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
|
NM_003072.5(SMARCA4):c.4170+9T>C
|
rs376165296
|
0.00025
|
|
NM_003072.5(SMARCA4):c.4635+11C>T
|
rs369785711
|
0.00025
|
|
NM_004304.5(ALK):c.2238C>T (p.Gly746=)
|
rs142109683
|
0.00025
|
|
NM_001365951.3(KIF1B):c.*2435C>A
|
rs546527912
|
0.00024
|
|
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)
|
rs771475772
|
0.00024
|
|
NM_004304.5(ALK):c.4573A>G (p.Lys1525Glu)
|
rs139437088
|
0.00024
|
|
NM_004484.4(GPC3):c.1713G>A (p.Ser571=)
|
rs149209315
|
0.00024
|
|
NM_004484.4(GPC3):c.876T>C (p.Ile292=)
|
rs61754633
|
0.00024
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=)
|
rs145435121
|
0.00023
|
|
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)
|
rs144030155
|
0.00023
|
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
|
NM_001365951.3(KIF1B):c.*1117C>T
|
rs182518399
|
0.00022
|
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
|
NM_003072.5(SMARCA4):c.2049C>T (p.Pro683=)
|
rs138878490
|
0.00022
|
|
NM_003072.5(SMARCA4):c.2860-16T>C
|
rs370627665
|
0.00022
|
|
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=)
|
rs140322802
|
0.00022
|
|
NM_004304.5(ALK):c.3291C>T (p.Cys1097=)
|
rs370170353
|
0.00022
|
|
NM_004304.5(ALK):c.4185C>T (p.Thr1395=)
|
rs571470900
|
0.00022
|
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
|
NM_001365951.3(KIF1B):c.*2128C>T
|
rs943700412
|
0.00021
|
|
NM_003072.5(SMARCA4):c.1419+4C>T
|
rs370219784
|
0.00021
|
|
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)
|
rs756224211
|
0.00021
|
|
NM_004304.5(ALK):c.1584T>C (p.Ala528=)
|
rs368877224
|
0.00021
|
|
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met)
|
rs35073634
|
0.00021
|
|
NM_004304.5(ALK):c.3633C>A (p.Thr1211=)
|
rs144437923
|
0.00021
|
|
NM_016169.4(SUFU):c.*1997A>G
|
rs757368847
|
0.00021
|
|
NM_016169.4(SUFU):c.6G>T (p.Ala2=)
|
rs746555296
|
0.00021
|
|
NM_024426.6(WT1):c.-106C>T
|
rs867975105
|
0.00021
|
|
NM_177438.3(DICER1):c.4901T>C (p.Leu1634Ser)
|
rs149723645
|
0.00021
|
|
NM_003072.5(SMARCA4):c.2275-10G>A
|
rs375787249
|
0.00020
|
|
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)
|
rs367768260
|
0.00020
|
|
NM_004304.5(ALK):c.1148A>T (p.Lys383Met)
|
rs140928266
|
0.00020
|
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
|
NM_001365951.3(KIF1B):c.*2567G>C
|
rs750420134
|
0.00019
|
|
NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)
|
rs150411706
|
0.00019
|
|
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=)
|
rs140229905
|
0.00019
|
|
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln)
|
rs148530368
|
0.00019
|
|
NM_003072.5(SMARCA4):c.4170+16G>A
|
rs191812860
|
0.00019
|
|
NM_003072.5(SMARCA4):c.417G>A (p.Pro139=)
|
rs142092395
|
0.00019
|
|
NM_003072.5(SMARCA4):c.4875C>T (p.Val1625=)
|
rs146427223
|
0.00019
|
|
NM_003072.5(SMARCA4):c.4932C>T (p.Ser1644=)
|
rs139335250
|
0.00019
|
|
NM_004304.5(ALK):c.3336G>A (p.Pro1112=)
|
rs146074150
|
0.00019
|
|
NM_004304.5(ALK):c.3645+16T>A
|
rs141531355
|
0.00019
|
|
NM_004304.5(ALK):c.487G>T (p.Val163Leu)
|
rs55697431
|
0.00019
|
|
NM_004484.4(GPC3):c.889A>G (p.Arg297Gly)
|
rs148951753
|
0.00019
|
|
NM_016169.4(SUFU):c.*2140G>T
|
rs543282016
|
0.00019
|
|
NM_024426.6(WT1):c.*534C>T
|
rs868546165
|
0.00019
|
|
NM_024426.6(WT1):c.124G>A (p.Gly42Ser)
|
rs762288656
|
0.00019
|
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
|
NM_000537.4(REN):c.1216C>T (p.Arg406Cys)
|
rs547414447
|
0.00018
|
|
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)
|
rs150904940
|
0.00018
|
|
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=)
|
rs149342641
|
0.00018
|
|
NM_003072.5(SMARCA4):c.4171-1858T>A
|
rs201309716
|
0.00018
|
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
|
NM_004304.5(ALK):c.3085C>G (p.Pro1029Ala)
|
rs543328121
|
0.00018
|
|
NM_004304.5(ALK):c.3257C>T (p.Ser1086Leu)
|
rs138589984
|
0.00018
|
|
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)
|
rs143647372
|
0.00018
|
|
NM_004304.5(ALK):c.4407G>A (p.Pro1469=)
|
rs372471601
|
0.00018
|
|
NM_016169.4(SUFU):c.1308C>T (p.Thr436=)
|
rs142029957
|
0.00018
|
|
NM_024426.6(WT1):c.*666A>G
|
rs374306749
|
0.00018
|
|
NM_001365951.3(KIF1B):c.*4238G>T
|
rs544754092
|
0.00017
|
|
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)
|
rs142881321
|
0.00017
|
|
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln)
|
rs373439616
|
0.00017
|
|
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=)
|
rs372379166
|
0.00017
|
|
NM_003072.5(SMARCA4):c.2064G>A (p.Lys688=)
|
rs368941893
|
0.00017
|
|
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val)
|
rs145749221
|
0.00017
|
|
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)
|
rs766767855
|
0.00017
|
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
|
NM_003072.5(SMARCA4):c.2860-14T>C
|
rs191509662
|
0.00016
|
|
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=)
|
rs201372858
|
0.00016
|
|
NM_003640.5(ELP1):c.3477C>T (p.His1159=)
|
rs141257064
|
0.00016
|
|
NM_003738.5(PTCH2):c.2661C>T (p.His887=)
|
rs149815763
|
0.00016
|
|
NM_004304.5(ALK):c.*185C>T
|
rs547955328
|
0.00016
|
|
NM_004304.5(ALK):c.174C>T (p.Phe58=)
|
rs762994068
|
0.00016
|
|
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)
|
rs147858673
|
0.00016
|
|
NM_004304.5(ALK):c.2478C>T (p.Tyr826=)
|
rs142126984
|
0.00016
|
|
NM_004304.5(ALK):c.2554A>G (p.Lys852Glu)
|
rs371441614
|
0.00016
|
|
NM_004304.5(ALK):c.315G>A (p.Ala105=)
|
rs897667874
|
0.00016
|
|
NM_016169.4(SUFU):c.255C>T (p.Pro85=)
|
rs113671745
|
0.00016
|
|
NM_024426.6(WT1):c.567G>T (p.Pro189=)
|
rs141135091
|
0.00016
|
|
NM_001365951.3(KIF1B):c.*1541C>T
|
rs368514074
|
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_002253.4(KDR):c.2525G>A (p.Arg842His)
|
rs149901681
|
0.00015
|
|
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=)
|
rs746415437
|
0.00015
|
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
|
NM_004304.5(ALK):c.2229C>T (p.Gly743=)
|
rs111253753
|
0.00015
|
|
NM_004304.5(ALK):c.4275G>A (p.Leu1425=)
|
rs749418931
|
0.00015
|
|
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr)
|
rs201433984
|
0.00014
|
|
NM_001365951.3(KIF1B):c.*201A>G
|
rs992482431
|
0.00014
|
|
NM_001365951.3(KIF1B):c.*3988G>A
|
rs571451087
|
0.00014
|
|
NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=)
|
rs143112560
|
0.00014
|
|
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=)
|
rs183695281
|
0.00014
|
|
NM_003072.5(SMARCA4):c.3952-20G>A
|
rs369464237
|
0.00014
|
|
NM_003072.5(SMARCA4):c.999C>T (p.Pro333=)
|
rs538345417
|
0.00014
|
|
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)
|
rs202080366
|
0.00014
|
|
NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr)
|
rs144561012
|
0.00014
|
|
NM_004304.5(ALK):c.-896C>T
|
rs1020153617
|
0.00014
|
|
NM_004304.5(ALK):c.2307C>T (p.Asp769=)
|
rs553770508
|
0.00014
|
|
NM_004304.5(ALK):c.3359+17C>T
|
rs200832204
|
0.00014
|
|
NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu)
|
rs531490912
|
0.00014
|
|
NM_004304.5(ALK):c.679T>C (p.Leu227=)
|
rs201659891
|
0.00014
|
|
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser)
|
rs147231796
|
0.00014
|
|
NM_004484.4(GPC3):c.676A>G (p.Thr226Ala)
|
rs145141525
|
0.00014
|
|
NM_005612.5(REST):c.2065C>T (p.Pro689Ser)
|
rs149486440
|
0.00014
|
|
NM_016169.4(SUFU):c.*721T>G
|
rs2298279
|
0.00014
|
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
|
NM_001365951.3(KIF1B):c.*3716C>T
|
rs756198031
|
0.00013
|
|
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)
|
rs145969842
|
0.00013
|
|
NM_003072.5(SMARCA4):c.690C>T (p.Pro230=)
|
rs372941839
|
0.00013
|
|
NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly)
|
rs373859654
|
0.00013
|
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
|
NM_004304.5(ALK):c.*45G>A
|
rs186421480
|
0.00013
|
|
NM_004304.5(ALK):c.1528C>T (p.Arg510Trp)
|
rs201449759
|
0.00013
|
|
NM_004304.5(ALK):c.1626G>C (p.Pro542=)
|
rs143916398
|
0.00013
|
|
NM_004304.5(ALK):c.3173-11C>T
|
rs79339096
|
0.00013
|
|
NM_004304.5(ALK):c.470C>T (p.Pro157Leu)
|
rs775385954
|
0.00013
|
|
NM_004304.5(ALK):c.4793C>T (p.Ala1598Val)
|
rs577660779
|
0.00013
|
|
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)
|
rs373037272
|
0.00013
|
|
NM_004484.4(GPC3):c.1033-18T>C
|
rs368015595
|
0.00013
|
|
NM_001365951.3(KIF1B):c.*4641T>C
|
rs997748530
|
0.00012
|
|
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)
|
rs749154726
|
0.00012
|
|
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)
|
rs199634608
|
0.00012
|
|
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala)
|
rs150949949
|
0.00012
|
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146
|
0.00012
|
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs201714373
|
0.00012
|
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs151120244
|
0.00012
|
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809
|
0.00012
|
|
NM_004304.5(ALK):c.1283-5T>C
|
rs377214413
|
0.00012
|
|
NM_004304.5(ALK):c.1918G>A (p.Gly640Arg)
|
rs144453491
|
0.00012
|
|
NM_004304.5(ALK):c.597C>T (p.Gly199=)
|
rs200868013
|
0.00012
|
|
NM_004304.5(ALK):c.692C>G (p.Thr231Arg)
|
rs142120301
|
0.00012
|
|
NM_016169.4(SUFU):c.1297-13T>C
|
rs557592503
|
0.00012
|
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
|
NM_001365951.3(KIF1B):c.*1049T>C
|
rs189075267
|
0.00011
|
|
NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg)
|
rs140015591
|
0.00011
|
|
NM_003072.5(SMARCA4):c.1236C>T (p.Phe412=)
|
rs140000691
|
0.00011
|
|
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=)
|
rs2288845
|
0.00011
|
|
NM_003072.5(SMARCA4):c.2403C>T (p.Arg801=)
|
rs142995801
|
0.00011
|
|
NM_003072.5(SMARCA4):c.3216-17C>T
|
rs371137806
|
0.00011
|
|
NM_003072.5(SMARCA4):c.714C>T (p.Pro238=)
|
rs995632376
|
0.00011
|
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484
|
0.00011
|
|
NM_003924.4(PHOX2B):c.*18G>A
|
rs776498322
|
0.00011
|
|
NM_003924.4(PHOX2B):c.*19C>A
|
rs770841700
|
0.00011
|
|
NM_004304.5(ALK):c.1108G>A (p.Glu370Lys)
|
rs373120394
|
0.00011
|
|
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr)
|
rs149968229
|
0.00011
|
|
NM_004304.5(ALK):c.1415-6C>T
|
rs375507924
|
0.00011
|
|
NM_004304.5(ALK):c.1648-10G>A
|
rs375646347
|
0.00011
|
|
NM_004304.5(ALK):c.2817C>T (p.Gly939=)
|
rs112022466
|
0.00011
|
|
NM_004304.5(ALK):c.2928C>T (p.His976=)
|
rs75895956
|
0.00011
|
|
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr)
|
rs370049091
|
0.00011
|
|
NM_004304.5(ALK):c.3599C>T (p.Ala1200Val)
|
rs200585833
|
0.00011
|
|
NM_004304.5(ALK):c.498C>T (p.Leu166=)
|
rs373986433
|
0.00011
|
|
NM_004304.5(ALK):c.661G>C (p.Gly221Arg)
|
rs199584443
|
0.00011
|
|
NM_004304.5(ALK):c.808T>C (p.Phe270Leu)
|
rs143229596
|
0.00011
|
|
NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu)
|
rs375606908
|
0.00011
|
|
NM_005612.5(REST):c.2989A>G (p.Met997Val)
|
rs373733071
|
0.00011
|
|
NM_005612.5(REST):c.302G>A (p.Gly101Asp)
|
rs150412877
|
0.00011
|
|
NM_016169.4(SUFU):c.*1451C>T
|
rs886046659
|
0.00011
|
|
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)
|
rs1265012285
|
0.00011
|
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
|
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)
|
rs144158469
|
0.00011
|
|
NM_024426.6(WT1):c.343C>T (p.Pro115Ser)
|
rs916583720
|
0.00011
|
|
NM_001365951.3(KIF1B):c.*4179A>G
|
rs184935521
|
0.00010
|
|
NM_001387283.1(SMARCA4):c.4211T>G (p.Val1404Gly)
|
rs200469979
|
0.00010
|
|
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=)
|
rs539865173
|
0.00010
|
|
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)
|
rs372410282
|
0.00010
|
|
NM_003072.5(SMARCA4):c.3168+9G>A
|
rs369201773
|
0.00010
|
|
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=)
|
rs377720149
|
0.00010
|
|
NM_003072.5(SMARCA4):c.655A>G (p.Thr219Ala)
|
rs774085664
|
0.00010
|
|
NM_003072.5(SMARCA4):c.732G>A (p.Pro244=)
|
rs878854241
|
0.00010
|
|
NM_003072.5(SMARCA4):c.951C>T (p.Ala317=)
|
rs377511733
|
0.00010
|
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs200322331
|
0.00010
|
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768
|
0.00010
|
|
NM_004304.5(ALK):c.1817+8C>T
|
rs371738899
|
0.00010
|
|
NM_004304.5(ALK):c.2416C>T (p.Arg806Cys)
|
rs80227749
|
0.00010
|
|
NM_004304.5(ALK):c.2532T>C (p.Gly844=)
|
rs553485553
|
0.00010
|
|
NM_004304.5(ALK):c.2750C>T (p.Thr917Ile)
|
rs773447647
|
0.00010
|
|
NM_004304.5(ALK):c.3359+18G>A
|
rs373046668
|
0.00010
|
|
NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln)
|
rs200110351
|
0.00010
|
|
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)
|
rs753763148
|
0.00010
|
|
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile)
|
rs139206747
|
0.00010
|
|
NM_004484.4(GPC3):c.516C>T (p.Asp172=)
|
rs369607601
|
0.00010
|
|
NM_016169.4(SUFU):c.*2195G>T
|
rs781227748
|
0.00010
|
|
NM_024426.6(WT1):c.1264+19C>T
|
rs2234592
|
0.00010
|
|
NM_024426.6(WT1):c.849C>T (p.Thr283=)
|
rs145425799
|
0.00010
|
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
|
NM_001365951.3(KIF1B):c.*1195C>T
|
rs759034681
|
0.00009
|
|
NM_001365951.3(KIF1B):c.*1618C>G
|
rs920003650
|
0.00009
|
|
NM_001365951.3(KIF1B):c.*3841G>A
|
rs765725604
|
0.00009
|
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
|
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)
|
rs146436697
|
0.00009
|
|
NM_003072.5(SMARCA4):c.1812+3G>A
|
rs371562008
|
0.00009
|
|
NM_003072.5(SMARCA4):c.1980T>C (p.Ser660=)
|
rs200419334
|
0.00009
|
|
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)
|
rs371056395
|
0.00009
|
|
NM_003072.5(SMARCA4):c.2952C>T (p.Val984=)
|
rs371276213
|
0.00009
|
|
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)
|
rs144803359
|
0.00009
|
|
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=)
|
rs149670457
|
0.00009
|
|
NM_003072.5(SMARCA4):c.4848G>A (p.Pro1616=)
|
rs370590601
|
0.00009
|
|
NM_003072.5(SMARCA4):c.602A>T (p.Gln201Leu)
|
rs587778682
|
0.00009
|
|
NM_003072.5(SMARCA4):c.860-19G>T
|
rs779390573
|
0.00009
|
|
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=)
|
rs531365419
|
0.00009
|
|
NM_003073.5(SMARCB1):c.*17C>T
|
rs372348692
|
0.00009
|
|
NM_003640.5(ELP1):c.1644-13T>C
|
rs557540663
|
0.00009
|
|
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)
|
rs199595486
|
0.00009
|
|
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)
|
rs565257577
|
0.00009
|
|
NM_003924.4(PHOX2B):c.*1310G>T
|
rs180795407
|
0.00009
|
|
NM_004304.5(ALK):c.-161T>C
|
rs886055934
|
0.00009
|
|
NM_004304.5(ALK):c.-490C>T
|
rs957194330
|
0.00009
|
|
NM_004304.5(ALK):c.1128C>T (p.Leu376=)
|
rs200396075
|
0.00009
|
|
NM_004304.5(ALK):c.1390G>A (p.Gly464Arg)
|
rs55706535
|
0.00009
|
|
NM_004304.5(ALK):c.1752C>T (p.Val584=)
|
rs367912697
|
0.00009
|
|
NM_004304.5(ALK):c.2313G>A (p.Leu771=)
|
rs538761543
|
0.00009
|
|
NM_004304.5(ALK):c.2337A>C (p.Gly779=)
|
rs775839459
|
0.00009
|
|
NM_004304.5(ALK):c.2632+8G>A
|
rs199653862
|
0.00009
|
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
|
NM_016169.4(SUFU):c.1272C>T (p.Tyr424=)
|
rs771084342
|
0.00009
|
|
NM_016169.4(SUFU):c.183-20_183-19del
|
rs763795960
|
0.00009
|
|
NM_016169.4(SUFU):c.879C>T (p.Ile293=)
|
rs370516021
|
0.00009
|
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
0.00009
|
|
NM_024426.6(WT1):c.381C>G (p.Pro127=)
|
rs771681406
|
0.00009
|
|
NM_024426.6(WT1):c.421C>T (p.Pro141Ser)
|
rs750548251
|
0.00009
|
|
NM_024426.6(WT1):c.966-20C>T
|
rs374791135
|
0.00009
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
|
NM_001365951.3(KIF1B):c.*3418C>T
|
rs559140260
|
0.00008
|
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
|
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=)
|
rs751242644
|
0.00008
|
|
NM_003072.5(SMARCA4):c.1260G>A (p.Val420=)
|
rs778628081
|
0.00008
|
|
NM_003072.5(SMARCA4):c.1728C>T (p.Val576=)
|
rs1060504461
|
0.00008
|
|
NM_003072.5(SMARCA4):c.3215+17C>A
|
rs762320861
|
0.00008
|
|
NM_003072.5(SMARCA4):c.3546+15G>A
|
rs373423700
|
0.00008
|
|
NM_003072.5(SMARCA4):c.4170+18C>T
|
rs768191285
|
0.00008
|
|
NM_003072.5(SMARCA4):c.4329C>T (p.Arg1443=)
|
rs373999751
|
0.00008
|
|
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=)
|
rs200087760
|
0.00008
|
|
NM_003073.5(SMARCB1):c.*113C>T
|
rs886057286
|
0.00008
|
|
NM_003640.5(ELP1):c.3346+7G>T
|
rs144631706
|
0.00008
|
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
0.00008
|
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
|
NM_004304.5(ALK):c.-566G>T
|
rs886055937
|
0.00008
|
|
NM_004304.5(ALK):c.1547-5C>T
|
rs764739691
|
0.00008
|
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
|
NM_004304.5(ALK):c.1999G>A (p.Gly667Arg)
|
rs539763601
|
0.00008
|
|
NM_004304.5(ALK):c.2204+8T>C
|
rs758076491
|
0.00008
|
|
NM_004304.5(ALK):c.2275G>A (p.Val759Met)
|
rs199691702
|
0.00008
|
|
NM_004304.5(ALK):c.2504C>T (p.Pro835Leu)
|
rs376091121
|
0.00008
|
|
NM_004304.5(ALK):c.2632+17G>A
|
rs201350160
|
0.00008
|
|
NM_004304.5(ALK):c.3133G>A (p.Val1045Met)
|
rs200641396
|
0.00008
|
|
NM_004304.5(ALK):c.3179G>A (p.Arg1060His)
|
rs769322016
|
0.00008
|
|
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)
|
rs55760835
|
0.00008
|
|
NM_004304.5(ALK):c.3481G>A (p.Glu1161Lys)
|
rs145194836
|
0.00008
|
|
NM_004304.5(ALK):c.4692C>T (p.Ala1564=)
|
rs751632696
|
0.00008
|
|
NM_004304.5(ALK):c.4812C>T (p.Tyr1604=)
|
rs753750497
|
0.00008
|
|
NM_004304.5(ALK):c.72G>A (p.Gly24=)
|
rs756782371
|
0.00008
|
|
NM_004304.5(ALK):c.875G>A (p.Arg292His)
|
rs149145987
|
0.00008
|
|
NM_004484.4(GPC3):c.1680C>T (p.Ser560=)
|
rs748480657
|
0.00008
|
|
NM_004484.4(GPC3):c.1716G>C (p.Val572=)
|
rs779688123
|
0.00008
|
|
NM_016169.4(SUFU):c.*907C>G
|
rs886046655
|
0.00008
|
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
|
NM_024426.6(WT1):c.1140C>A (p.Ala380=)
|
rs147126640
|
0.00008
|
|
NM_024426.6(WT1):c.1264+12C>T
|
rs369633552
|
0.00008
|
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
|
NM_024426.6(WT1):c.887+14G>A
|
rs757237600
|
0.00008
|
|
NM_024426.6(WT1):c.888-16G>C
|
rs371814667
|
0.00008
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
|
NM_001365951.3(KIF1B):c.5409-15G>A
|
rs371830018
|
0.00007
|
|
NM_003072.5(SMARCA4):c.1119-14G>T
|
rs201968918
|
0.00007
|
|
NM_003072.5(SMARCA4):c.2002-20A>C
|
rs369922926
|
0.00007
|
|
NM_003072.5(SMARCA4):c.2883C>T (p.Thr961=)
|
rs750609318
|
0.00007
|
|
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=)
|
rs28997581
|
0.00007
|
|
NM_003072.5(SMARCA4):c.3774+20C>T
|
rs377640724
|
0.00007
|
|
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu)
|
rs371045201
|
0.00007
|
|
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)
|
rs771318456
|
0.00007
|
|
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)
|
rs370575901
|
0.00007
|
|
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys)
|
rs137983175
|
0.00007
|
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754
|
0.00007
|
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335
|
0.00007
|
|
NM_004304.5(ALK):c.2623G>A (p.Gly875Arg)
|
rs148001139
|
0.00007
|
|
NM_004304.5(ALK):c.2763C>T (p.Phe921=)
|
rs201042802
|
0.00007
|
|
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)
|
rs200080181
|
0.00007
|
|
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)
|
rs375889530
|
0.00007
|
|
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln)
|
rs72852032
|
0.00007
|
|
NM_004304.5(ALK):c.3877G>A (p.Val1293Ile)
|
rs1024193740
|
0.00007
|
|
NM_004304.5(ALK):c.4074-14G>A
|
rs373693980
|
0.00007
|
|
NM_004304.5(ALK):c.4473G>A (p.Lys1491=)
|
rs148987382
|
0.00007
|
|
NM_004304.5(ALK):c.925G>A (p.Ala309Thr)
|
rs145681577
|
0.00007
|
|
NM_004484.4(GPC3):c.1149C>T (p.Thr383=)
|
rs147245792
|
0.00007
|
|
NM_004484.4(GPC3):c.93G>A (p.Pro31=)
|
rs781232455
|
0.00007
|
|
NM_016169.4(SUFU):c.1023-20T>C
|
rs373445321
|
0.00007
|
|
NM_016169.4(SUFU):c.625C>T (p.His209Tyr)
|
rs770678862
|
0.00007
|
|
NM_024426.6(WT1):c.*159G>C
|
rs746218880
|
0.00007
|
|
NM_024426.6(WT1):c.*574del
|
rs5030319
|
0.00007
|
|
NM_024426.6(WT1):c.1017-9T>C
|
rs368486676
|
0.00007
|
|
NM_024426.6(WT1):c.1020C>T (p.His340=)
|
rs375114529
|
0.00007
|
|
NM_177438.3(DICER1):c.179C>T (p.Thr60Ile)
|
rs587778228
|
0.00007
|
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_001365951.3(KIF1B):c.*1134G>A
|
rs763386544
|
0.00006
|
|
NM_001365951.3(KIF1B):c.*1566A>T
|
rs1368795718
|
0.00006
|
|
NM_001365951.3(KIF1B):c.*2384A>G
|
rs1377198164
|
0.00006
|
|
NM_001365951.3(KIF1B):c.*4041C>G
|
rs539967376
|
0.00006
|
|
NM_001365951.3(KIF1B):c.107-8T>A
|
rs749389756
|
0.00006
|
|
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)
|
rs121908163
|
0.00006
|
|
NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)
|
rs149417293
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val)
|
rs756474511
|
0.00006
|
|
NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu)
|
rs563079629
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1083C>T (p.Leu361=)
|
rs191312392
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1119-6T>C
|
rs368180712
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=)
|
rs143600641
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1344C>T (p.Arg448=)
|
rs140328531
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1419+5G>A
|
rs199814381
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1420-7C>T
|
rs878854201
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1821C>T (p.Asp607=)
|
rs150138332
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1941G>A (p.Pro647=)
|
rs369866257
|
0.00006
|
|
NM_003072.5(SMARCA4):c.2438+10C>T
|
rs370782232
|
0.00006
|
|
NM_003072.5(SMARCA4):c.2808C>T (p.Cys936=)
|
rs144841907
|
0.00006
|
|
NM_003072.5(SMARCA4):c.2994C>T (p.Cys998=)
|
rs1028929208
|
0.00006
|
|
NM_003072.5(SMARCA4):c.3225G>A (p.Leu1075=)
|
rs374499588
|
0.00006
|
|
NM_003072.5(SMARCA4):c.3383-12T>C
|
rs375221718
|
0.00006
|
|
NM_003072.5(SMARCA4):c.3383-5G>A
|
rs762528243
|
0.00006
|
|
NM_003072.5(SMARCA4):c.3483C>T (p.Leu1161=)
|
rs375444418
|
0.00006
|
|
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu)
|
rs762023872
|
0.00006
|
|
NM_003072.5(SMARCA4):c.4171-1748G>A
|
rs773006531
|
0.00006
|
|
NM_003072.5(SMARCA4):c.4254C>T (p.Asp1418=)
|
rs370380553
|
0.00006
|
|
NM_003072.5(SMARCA4):c.4302C>T (p.Asp1434=)
|
rs146747026
|
0.00006
|
|
NM_003072.5(SMARCA4):c.4424+15G>A
|
rs191570676
|
0.00006
|
|
NM_003072.5(SMARCA4):c.4758C>T (p.Ser1586=)
|
rs199723473
|
0.00006
|
|
NM_003072.5(SMARCA4):c.4884C>G (p.Asp1628Glu)
|
rs778856307
|
0.00006
|
|
NM_003072.5(SMARCA4):c.591C>T (p.Pro197=)
|
rs572753619
|
0.00006
|
|
NM_003072.5(SMARCA4):c.761-5T>C
|
rs543702763
|
0.00006
|
|
NM_003072.5(SMARCA4):c.79A>G (p.Met27Val)
|
rs768328175
|
0.00006
|
|
NM_003072.5(SMARCA4):c.888G>A (p.Thr296=)
|
rs545237924
|
0.00006
|
|
NM_003073.5(SMARCB1):c.-17C>T
|
rs372777519
|
0.00006
|
|
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)
|
rs776167946
|
0.00006
|
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00006
|
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00006
|
|
NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr)
|
rs765975927
|
0.00006
|
|
NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn)
|
rs758108389
|
0.00006
|
|
NM_003924.4(PHOX2B):c.*1627G>A
|
rs886059411
|
0.00006
|
|
NM_003924.4(PHOX2B):c.*1701A>G
|
rs886059409
|
0.00006
|
|
NM_003924.4(PHOX2B):c.*550G>A
|
rs577950819
|
0.00006
|
|
NM_003924.4(PHOX2B):c.-105G>A
|
rs538445545
|
0.00006
|
|
NM_004304.5(ALK):c.1050G>A (p.Ser350=)
|
rs749145522
|
0.00006
|
|
NM_004304.5(ALK):c.1184G>A (p.Arg395His)
|
rs769910087
|
0.00006
|
|
NM_004304.5(ALK):c.1235G>A (p.Arg412His)
|
rs1388736375
|
0.00006
|
|
NM_004304.5(ALK):c.13G>A (p.Gly5Arg)
|
rs1272214012
|
0.00006
|
|
NM_004304.5(ALK):c.1413C>T (p.Cys471=)
|
rs770707805
|
0.00006
|
|
NM_004304.5(ALK):c.1414C>G (p.Arg472Gly)
|
rs749263944
|
0.00006
|
|
NM_004304.5(ALK):c.141G>A (p.Ser47=)
|
rs572351075
|
0.00006
|
|
NM_004304.5(ALK):c.1581C>G (p.Pro527=)
|
rs141720931
|
0.00006
|
|
NM_004304.5(ALK):c.1648C>T (p.Leu550Phe)
|
rs769821764
|
0.00006
|
|
NM_004304.5(ALK):c.2011C>T (p.Pro671Ser)
|
rs145780832
|
0.00006
|
|
NM_004304.5(ALK):c.2204+4C>T
|
rs201806531
|
0.00006
|
|
NM_004304.5(ALK):c.2217C>T (p.Tyr739=)
|
rs141858653
|
0.00006
|
|
NM_004304.5(ALK):c.2633-3C>T
|
rs200341945
|
0.00006
|
|
NM_004304.5(ALK):c.3354C>A (p.Leu1118=)
|
rs371592787
|
0.00006
|
|
NM_004304.5(ALK):c.3409G>A (p.Gly1137Arg)
|
rs762571775
|
0.00006
|
|
NM_004304.5(ALK):c.3516-3C>T
|
rs769293928
|
0.00006
|
|
NM_004304.5(ALK):c.354A>T (p.Ala118=)
|
rs779794415
|
0.00006
|
|
NM_004304.5(ALK):c.362G>T (p.Arg121Leu)
|
rs779147984
|
0.00006
|
|
NM_004304.5(ALK):c.4398T>C (p.Pro1466=)
|
rs747467124
|
0.00006
|
|
NM_004304.5(ALK):c.760C>T (p.Pro254Ser)
|
rs774815140
|
0.00006
|
|
NM_004484.4(GPC3):c.1287G>A (p.Val429=)
|
rs756598026
|
0.00006
|
|
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys)
|
rs587778392
|
0.00006
|
|
NM_004484.4(GPC3):c.672A>G (p.Gln224=)
|
rs373406834
|
0.00006
|
|
NM_004484.4(GPC3):c.825C>T (p.Gly275=)
|
rs753811089
|
0.00006
|
|
NM_005612.5(REST):c.527A>G (p.His176Arg)
|
rs375735172
|
0.00006
|
|
NM_016169.4(SUFU):c.*520G>A
|
rs757315966
|
0.00006
|
|
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)
|
rs149449923
|
0.00006
|
|
NM_016169.4(SUFU):c.1113G>A (p.Leu371=)
|
rs745349651
|
0.00006
|
|
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr)
|
rs748099523
|
0.00006
|
|
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)
|
rs768935165
|
0.00006
|
|
NM_016169.4(SUFU):c.757-20C>T
|
rs370544916
|
0.00006
|
|
NM_016169.4(SUFU):c.911-7G>A
|
rs558661774
|
0.00006
|
|
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)
|
rs148160011
|
0.00006
|
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
|
NM_024426.6(WT1):c.-140C>T
|
rs886048244
|
0.00006
|
|
NM_024426.6(WT1):c.1146T>A (p.Thr382=)
|
rs371168589
|
0.00006
|
|
NM_024426.6(WT1):c.117G>A (p.Arg39=)
|
rs537150542
|
0.00006
|
|
NM_024426.6(WT1):c.121C>T (p.Pro41Ser)
|
rs926668379
|
0.00006
|
|
NM_024426.6(WT1):c.1269G>A (p.Glu423=)
|
rs767850636
|
0.00006
|
|
NM_024426.6(WT1):c.1404C>T (p.Ser468=)
|
rs374799820
|
0.00006
|
|
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)
|
rs776954184
|
0.00006
|
|
NM_024426.6(WT1):c.29C>T (p.Ala10Val)
|
rs997104313
|
0.00006
|
|
NM_024426.6(WT1):c.689C>T (p.Thr230Met)
|
rs777166391
|
0.00006
|
|
NM_024426.6(WT1):c.696C>T (p.Ser232=)
|
rs9332974
|
0.00006
|
|
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)
|
rs372225738
|
0.00006
|
|
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys)
|
rs373646414
|
0.00006
|
|
NM_177438.3(DICER1):c.3674A>G (p.Tyr1225Cys)
|
rs146584765
|
0.00006
|
|
NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg)
|
rs752116341
|
0.00006
|
|
NM_000043.6(FAS):c.667A>C (p.Asn223His)
|
rs143318339
|
0.00005
|
|
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
|
rs56324666
|
0.00005
|
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
|
NM_001365951.3(KIF1B):c.*2821C>T
|
rs889285461
|
0.00005
|
|
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)
|
rs763679404
|
0.00005
|
|
NM_001365951.3(KIF1B):c.3423-15A>T
|
rs200470260
|
0.00005
|
|
NM_001387283.1(SMARCA4):c.4174A>G (p.Ile1392Val)
|
rs370424312
|
0.00005
|
|
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=)
|
rs751166438
|
0.00005
|
|
NM_003072.5(SMARCA4):c.2860-20C>T
|
rs753093920
|
0.00005
|
|
NM_003072.5(SMARCA4):c.3168+13C>T
|
rs535641983
|
0.00005
|
|
NM_003072.5(SMARCA4):c.3215+16A>G
|
rs370383249
|
0.00005
|
|
NM_003072.5(SMARCA4):c.3321C>T (p.Ser1107=)
|
rs367786588
|
0.00005
|
|
NM_003072.5(SMARCA4):c.3383-6C>T
|
rs760118048
|
0.00005
|
|
NM_003072.5(SMARCA4):c.3444G>A (p.Glu1148=)
|
rs754047386
|
0.00005
|
|
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met)
|
rs377119410
|
0.00005
|
|
NM_003072.5(SMARCA4):c.4032C>A (p.Pro1344=)
|
rs745307333
|
0.00005
|
|
NM_003072.5(SMARCA4):c.4287C>T (p.Arg1429=)
|
rs761380391
|
0.00005
|
|
NM_003072.5(SMARCA4):c.4508A>T (p.Lys1503Met)
|
rs747829176
|
0.00005
|
|
NM_003072.5(SMARCA4):c.4533+12G>A
|
rs745588528
|
0.00005
|
|
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln)
|
rs375672575
|
0.00005
|
|
NM_003072.5(SMARCA4):c.4884C>T (p.Asp1628=)
|
rs778856307
|
0.00005
|
|
NM_003072.5(SMARCA4):c.678C>T (p.Ser226=)
|
rs878854237
|
0.00005
|
|
NM_003072.5(SMARCA4):c.726C>T (p.Pro242=)
|
rs578260605
|
0.00005
|
|
NM_003072.5(SMARCA4):c.859+17A>G
|
rs761898669
|
0.00005
|
|
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)
|
rs754831171
|
0.00005
|
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245
|
0.00005
|
|
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met)
|
rs199723919
|
0.00005
|
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
|
NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys)
|
rs146570996
|
0.00005
|
|
NM_003924.4(PHOX2B):c.*638G>C
|
rs544491872
|
0.00005
|
|
NM_004304.5(ALK):c.1107C>T (p.Asn369=)
|
rs114429299
|
0.00005
|
|
NM_004304.5(ALK):c.1689C>T (p.Asn563=)
|
rs565743321
|
0.00005
|
|
NM_004304.5(ALK):c.1817+10A>G
|
rs539018263
|
0.00005
|
|
NM_004304.5(ALK):c.1854A>C (p.Gly618=)
|
rs145060046
|
0.00005
|
|
NM_004304.5(ALK):c.206G>A (p.Arg69Gln)
|
rs769061878
|
0.00005
|
|
NM_004304.5(ALK):c.2109C>T (p.Asn703=)
|
rs560163657
|
0.00005
|
|
NM_004304.5(ALK):c.2479G>A (p.Val827Ile)
|
rs756963896
|
0.00005
|
|
NM_004304.5(ALK):c.2505G>A (p.Pro835=)
|
rs201700728
|
0.00005
|
|
NM_004304.5(ALK):c.3030C>T (p.His1010=)
|
rs367642503
|
0.00005
|
|
NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg)
|
rs587778021
|
0.00005
|
|
NM_004304.5(ALK):c.3081G>A (p.Pro1027=)
|
rs747320964
|
0.00005
|
|
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)
|
rs199987354
|
0.00005
|
|
NM_004304.5(ALK):c.3453G>A (p.Thr1151=)
|
rs145061595
|
0.00005
|
|
NM_004304.5(ALK):c.350C>G (p.Pro117Arg)
|
rs201290745
|
0.00005
|
|
NM_004304.5(ALK):c.3789A>G (p.Gly1263=)
|
rs148124123
|
0.00005
|
|
NM_004304.5(ALK):c.397C>T (p.Arg133Cys)
|
rs775940832
|
0.00005
|
|
NM_004304.5(ALK):c.4074-11T>G
|
rs201675388
|
0.00005
|
|
NM_004304.5(ALK):c.44C>A (p.Ser15Tyr)
|
rs770134645
|
0.00005
|
|
NM_004304.5(ALK):c.49G>A (p.Ala17Thr)
|
rs369196372
|
0.00005
|
|
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys)
|
rs550608288
|
0.00005
|
|
NM_004484.4(GPC3):c.1078G>T (p.Ala360Ser)
|
rs779187915
|
0.00005
|
|
NM_004484.4(GPC3):c.1494C>T (p.Cys498=)
|
rs753210097
|
0.00005
|
|
NM_004484.4(GPC3):c.168C>G (p.Pro56=)
|
rs188592483
|
0.00005
|
|
NM_004484.4(GPC3):c.459T>G (p.Ser153=)
|
rs775459305
|
0.00005
|
|
NM_016169.4(SUFU):c.1059G>A (p.Thr353=)
|
rs780683814
|
0.00005
|
|
NM_016169.4(SUFU):c.183-4G>A
|
rs766044613
|
0.00005
|
|
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)
|
rs761921681
|
0.00005
|
|
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)
|
rs141359583
|
0.00005
|
|
NM_024426.6(WT1):c.1059C>T (p.Ile353=)
|
rs527655625
|
0.00005
|
|
NM_024426.6(WT1):c.510C>T (p.Ser170=)
|
rs772890986
|
0.00005
|
|
NM_024426.6(WT1):c.615C>G (p.Pro205=)
|
rs769467940
|
0.00005
|
|
NM_024426.6(WT1):c.730T>A (p.Phe244Ile)
|
rs771455202
|
0.00005
|
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
|
NM_177438.3(DICER1):c.*1395_*1396del
|
rs756671135
|
0.00005
|
|
NM_203447.4(DOCK8):c.4760T>C (p.Met1587Thr)
|
rs749789023
|
0.00005
|
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
|
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr)
|
rs151170252
|
0.00004
|
|
NM_001365951.3(KIF1B):c.*1715G>T
|
rs755083691
|
0.00004
|
|
NM_001365951.3(KIF1B):c.*1977G>C
|
rs995729981
|
0.00004
|
|
NM_001365951.3(KIF1B):c.*3481T>C
|
rs1005342775
|
0.00004
|
|
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg)
|
rs551543997
|
0.00004
|
|
NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)
|
rs574168097
|
0.00004
|
|
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)
|
rs754234374
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr)
|
rs371214327
|
0.00004
|
|
NM_003072.5(SMARCA4):c.108G>A (p.Pro36=)
|
rs372313516
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1209G>A (p.Glu403=)
|
rs200159174
|
0.00004
|
|
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=)
|
rs758438795
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1762-20G>A
|
rs199878282
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1782A>G (p.Gly594=)
|
rs369362739
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1813-17G>A
|
rs377749980
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1813-19A>G
|
rs373986576
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1815T>C (p.Pro605=)
|
rs1034540403
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu)
|
rs755935365
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2001+19G>C
|
rs369368895
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2091C>T (p.Asp697=)
|
rs528874054
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys)
|
rs778049192
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2199C>T (p.Ala733=)
|
rs538629432
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2275-16G>A
|
rs372868649
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2322C>T (p.Asn774=)
|
rs528157497
|
0.00004
|
|
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val)
|
rs767638396
|
0.00004
|
|
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)
|
rs766474711
|
0.00004
|
|
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val)
|
rs777647740
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=)
|
rs764939990
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3201C>T (p.Gly1067=)
|
rs763916022
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser)
|
rs373590049
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3546+14G>A
|
rs764287549
|
0.00004
|
|
NM_003072.5(SMARCA4):c.355+12C>T
|
rs367559956
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=)
|
rs368250779
|
0.00004
|
|
NM_003072.5(SMARCA4):c.372G>A (p.Leu124=)
|
rs780881662
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3747C>T (p.Ala1249=)
|
rs778654099
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=)
|
rs183060137
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3831G>A (p.Pro1277=)
|
rs371304615
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3897C>T (p.Asp1299=)
|
rs768987283
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3951+7G>A
|
rs543683431
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4023C>T (p.Asp1341=)
|
rs372329621
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4050C>T (p.Asp1350=)
|
rs575792225
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4119C>G (p.His1373Gln)
|
rs751704331
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4170+5A>G
|
rs749029481
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4182G>A (p.Glu1394=)
|
rs763867884
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4200C>T (p.Ile1400=)
|
rs577059244
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4257C>T (p.Ala1419=)
|
rs759313926
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4424+14C>T
|
rs757315422
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4425-18G>A
|
rs769612645
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4491C>T (p.Tyr1497=)
|
rs755142737
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4518C>T (p.Asp1506=)
|
rs774391397
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4585G>A (p.Val1529Ile)
|
rs777829717
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4596G>T (p.Leu1532=)
|
rs377000132
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp)
|
rs766797299
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu)
|
rs878854234
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4911+9G>A
|
rs374677046
|
0.00004
|
|
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)
|
rs371832808
|
0.00004
|
|
NM_003072.5(SMARCA4):c.762T>C (p.Gly254=)
|
rs376219601
|
0.00004
|
|
NM_003072.5(SMARCA4):c.932C>G (p.Pro311Arg)
|
rs759754994
|
0.00004
|
|
NM_003072.5(SMARCA4):c.96G>A (p.Pro32=)
|
rs761597013
|
0.00004
|
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
|
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=)
|
rs767262463
|
0.00004
|
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
0.00004
|
|
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)
|
rs749959888
|
0.00004
|
|
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)
|
rs369627815
|
0.00004
|
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122
|
0.00004
|
|
NM_003640.5(ELP1):c.2205-9T>G
|
rs762448047
|
0.00004
|
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880
|
0.00004
|
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191
|
0.00004
|
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377
|
0.00004
|
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs1286140759
|
0.00004
|
|
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)
|
rs148548795
|
0.00004
|
|
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)
|
rs746303238
|
0.00004
|
|
NM_003640.5(ELP1):c.3461-8T>C
|
rs778083125
|
0.00004
|
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
|
NM_003640.5(ELP1):c.3932-18T>G
|
rs767184876
|
0.00004
|
|
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)
|
rs201460139
|
0.00004
|
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965
|
0.00004
|
|
NM_003640.5(ELP1):c.958+20C>T
|
rs370413742
|
0.00004
|
|
NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn)
|
rs201345708
|
0.00004
|
|
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe)
|
rs138220875
|
0.00004
|
|
NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=)
|
rs752886480
|
0.00004
|
|
NM_003738.5(PTCH2):c.446T>A (p.Leu149His)
|
rs111283762
|
0.00004
|
|
NM_003924.3(PHOX2B):c.-195G>A
|
rs775569375
|
0.00004
|
|
NM_003924.4(PHOX2B):c.*1582T>C
|
rs921963841
|
0.00004
|
|
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)
|
rs559227588
|
0.00004
|
|
NM_004304.5(ALK):c.1008G>A (p.Pro336=)
|
rs757878984
|
0.00004
|
|
NM_004304.5(ALK):c.1042G>A (p.Ala348Thr)
|
rs763611527
|
0.00004
|
|
NM_004304.5(ALK):c.1044C>T (p.Ala348=)
|
rs200293454
|
0.00004
|
|
NM_004304.5(ALK):c.1045G>A (p.Val349Ile)
|
rs370848188
|
0.00004
|
|
NM_004304.5(ALK):c.1059G>A (p.Arg353=)
|
rs771143499
|
0.00004
|
|
NM_004304.5(ALK):c.1202G>A (p.Arg401Gln)
|
rs188859061
|
0.00004
|
|
NM_004304.5(ALK):c.1270A>G (p.Asn424Asp)
|
rs771340984
|
0.00004
|
|
NM_004304.5(ALK):c.1415-4A>G
|
rs769450437
|
0.00004
|
|
NM_004304.5(ALK):c.1670G>A (p.Arg557His)
|
rs200468507
|
0.00004
|
|
NM_004304.5(ALK):c.1787T>C (p.Met596Thr)
|
rs754810505
|
0.00004
|
|
NM_004304.5(ALK):c.1794G>A (p.Leu598=)
|
rs942266375
|
0.00004
|
|
NM_004304.5(ALK):c.2028C>T (p.Ile676=)
|
rs772973901
|
0.00004
|
|
NM_004304.5(ALK):c.2193C>T (p.Thr731=)
|
rs56017149
|
0.00004
|
|
NM_004304.5(ALK):c.2210C>T (p.Ser737Leu)
|
rs368581969
|
0.00004
|
|
NM_004304.5(ALK):c.2258G>A (p.Arg753Gln)
|
rs187200776
|
0.00004
|
|
NM_004304.5(ALK):c.2417G>A (p.Arg806His)
|
rs761568836
|
0.00004
|
|
NM_004304.5(ALK):c.2435A>G (p.His812Arg)
|
rs866703896
|
0.00004
|
|
NM_004304.5(ALK):c.2546A>C (p.Tyr849Ser)
|
rs1043717591
|
0.00004
|
|
NM_004304.5(ALK):c.2547C>T (p.Tyr849=)
|
rs747529982
|
0.00004
|
|
NM_004304.5(ALK):c.2598G>A (p.Ser866=)
|
rs56304041
|
0.00004
|
|
NM_004304.5(ALK):c.2622C>T (p.Ser874=)
|
rs528315610
|
0.00004
|
|
NM_004304.5(ALK):c.2813T>C (p.Ile938Thr)
|
rs1280047183
|
0.00004
|
|
NM_004304.5(ALK):c.2904A>G (p.Pro968=)
|
rs112828378
|
0.00004
|
|
NM_004304.5(ALK):c.2946G>T (p.Lys982Asn)
|
rs1344108786
|
0.00004
|
|
NM_004304.5(ALK):c.3025G>C (p.Asp1009His)
|
rs376962390
|
0.00004
|
|
NM_004304.5(ALK):c.3068-13A>T
|
rs1018923976
|
0.00004
|
|
NM_004304.5(ALK):c.3096A>T (p.Pro1032=)
|
rs1309558657
|
0.00004
|
|
NM_004304.5(ALK):c.3172+8C>T
|
rs77798934
|
0.00004
|
|
NM_004304.5(ALK):c.3251G>A (p.Arg1084His)
|
rs760151617
|
0.00004
|
|
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)
|
rs767822322
|
0.00004
|
|
NM_004304.5(ALK):c.3331G>T (p.Val1111Leu)
|
rs752052590
|
0.00004
|
|
NM_004304.5(ALK):c.3363T>A (p.Gly1121=)
|
rs201767904
|
0.00004
|
|
NM_004304.5(ALK):c.336C>G (p.Ala112=)
|
rs776604754
|
0.00004
|
|
NM_004304.5(ALK):c.3432C>T (p.Pro1144=)
|
rs148284008
|
0.00004
|
|
NM_004304.5(ALK):c.3451-16C>G
|
rs749807424
|
0.00004
|
|
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)
|
rs113994091
|
0.00004
|
|
NM_004304.5(ALK):c.3645G>A (p.Pro1215=)
|
rs775768862
|
0.00004
|
|
NM_004304.5(ALK):c.3646-18G>A
|
rs754062671
|
0.00004
|
|
NM_004304.5(ALK):c.3646-19C>T
|
rs368380756
|
0.00004
|
|
NM_004304.5(ALK):c.3646A>G (p.Ser1216Gly)
|
rs543229475
|
0.00004
|
|
NM_004304.5(ALK):c.383A>G (p.Lys128Arg)
|
rs756510939
|
0.00004
|
|
NM_004304.5(ALK):c.4214T>C (p.Val1405Ala)
|
rs777760767
|
0.00004
|
|
NM_004304.5(ALK):c.4238T>G (p.Val1413Gly)
|
rs779318085
|
0.00004
|
|
NM_004304.5(ALK):c.4433T>C (p.Met1478Thr)
|
rs141010693
|
0.00004
|
|
NM_004304.5(ALK):c.4530G>C (p.Trp1510Cys)
|
rs772430445
|
0.00004
|
|
NM_004304.5(ALK):c.4589G>A (p.Arg1530Lys)
|
rs141242925
|
0.00004
|
|
NM_004304.5(ALK):c.4622T>C (p.Val1541Ala)
|
rs552439944
|
0.00004
|
|
NM_004304.5(ALK):c.4656G>A (p.Gly1552=)
|
rs952457982
|
0.00004
|
|
NM_004304.5(ALK):c.4703A>C (p.Glu1568Ala)
|
rs763613910
|
0.00004
|
|
NM_004304.5(ALK):c.4738G>A (p.Gly1580Arg)
|
rs370947313
|
0.00004
|
|
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)
|
rs376702277
|
0.00004
|
|
NM_004304.5(ALK):c.4811A>G (p.Tyr1604Cys)
|
rs372440265
|
0.00004
|
|
NM_004304.5(ALK):c.503T>C (p.Phe168Ser)
|
rs755498584
|
0.00004
|
|
NM_004304.5(ALK):c.506A>G (p.Asn169Ser)
|
rs752129360
|
0.00004
|
|
NM_004304.5(ALK):c.618G>A (p.Ala206=)
|
rs779178799
|
0.00004
|
|
NM_004304.5(ALK):c.640C>T (p.Arg214Cys)
|
rs370297427
|
0.00004
|
|
NM_004304.5(ALK):c.667+14G>T
|
rs781586901
|
0.00004
|
|
NM_004304.5(ALK):c.930G>T (p.Glu310Asp)
|
rs367712624
|
0.00004
|
|
NM_004304.5(ALK):c.931C>T (p.Arg311Cys)
|
rs149837139
|
0.00004
|
|
NM_004304.5(ALK):c.941A>G (p.Glu314Gly)
|
rs778845512
|
0.00004
|
|
NM_004484.4(GPC3):c.1160G>A (p.Arg387Gln)
|
rs145280221
|
0.00004
|
|
NM_004484.4(GPC3):c.1263T>G (p.Leu421=)
|
rs1474137107
|
0.00004
|
|
NM_004484.4(GPC3):c.1601A>G (p.Asp534Gly)
|
rs755823884
|
0.00004
|
|
NM_004484.4(GPC3):c.1605G>A (p.Ala535=)
|
rs767097459
|
0.00004
|
|
NM_004484.4(GPC3):c.1632G>A (p.Pro544=)
|
rs766482434
|
0.00004
|
|
NM_004484.4(GPC3):c.293T>C (p.Met98Thr)
|
rs1007159317
|
0.00004
|
|
NM_004484.4(GPC3):c.394A>G (p.Asn132Asp)
|
rs143561452
|
0.00004
|
|
NM_004484.4(GPC3):c.414T>C (p.Thr138=)
|
rs1048793393
|
0.00004
|
|
NM_004484.4(GPC3):c.648G>C (p.Met216Ile)
|
rs752516966
|
0.00004
|
|
NM_004484.4(GPC3):c.972T>C (p.Phe324=)
|
rs183678432
|
0.00004
|
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
0.00004
|
|
NM_005612.5(REST):c.1344A>G (p.Ile448Met)
|
rs778247936
|
0.00004
|
|
NM_016169.4(SUFU):c.*2267G>T
|
rs886046660
|
0.00004
|
|
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val)
|
rs991500079
|
0.00004
|
|
NM_016169.4(SUFU):c.1297-16C>T
|
rs763761235
|
0.00004
|
|
NM_016169.4(SUFU):c.183-17T>C
|
rs767300975
|
0.00004
|
|
NM_016169.4(SUFU):c.537G>A (p.Leu179=)
|
rs139580429
|
0.00004
|
|
NM_016169.4(SUFU):c.777C>T (p.Ile259=)
|
rs749533220
|
0.00004
|
|
NM_016169.4(SUFU):c.855C>T (p.Asp285=)
|
rs200206997
|
0.00004
|
|
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)
|
rs149016373
|
0.00004
|
|
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)
|
rs768170991
|
0.00004
|
|
NM_024426.6(WT1):c.*239G>A
|
rs886048226
|
0.00004
|
|
NM_024426.6(WT1):c.1016+15C>T
|
rs752756426
|
0.00004
|
|
NM_024426.6(WT1):c.1150G>A (p.Val384Ile)
|
rs977244044
|
0.00004
|
|
NM_024426.6(WT1):c.513C>A (p.Gly171=)
|
rs536728682
|
0.00004
|
|
NM_024426.6(WT1):c.70C>T (p.Arg24Cys)
|
rs878855086
|
0.00004
|
|
NM_024426.6(WT1):c.813G>C (p.Pro271=)
|
rs1341857958
|
0.00004
|
|
NM_024426.6(WT1):c.925A>G (p.Met309Val)
|
rs754336808
|
0.00004
|
|
NM_024426.6(WT1):c.965+14T>C
|
rs369920807
|
0.00004
|
|
NM_177438.3(DICER1):c.1329C>T (p.Cys443=)
|
rs776143079
|
0.00004
|
|
NM_177438.3(DICER1):c.1410G>C (p.Glu470Asp)
|
rs774271782
|
0.00004
|
|
NM_177438.3(DICER1):c.1801A>G (p.Ile601Val)
|
rs564224919
|
0.00004
|
|
NM_177438.3(DICER1):c.3422C>T (p.Ser1141Phe)
|
rs780815020
|
0.00004
|
|
NM_177438.3(DICER1):c.4949T>G (p.Phe1650Cys)
|
rs760439905
|
0.00004
|
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
rs587782714
|
0.00003
|
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu)
|
rs200396882
|
0.00003
|
|
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)
|
rs754143860
|
0.00003
|
|
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)
|
rs778460384
|
0.00003
|
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
|
NM_001242835.2(NDRG4):c.202G>A (p.Val68Met)
|
rs753975630
|
0.00003
|
|
NM_001365951.3(KIF1B):c.*1997T>C
|
rs886044997
|
0.00003
|
|
NM_001365951.3(KIF1B):c.*2012C>T
|
rs181454124
|
0.00003
|
|
NM_001365951.3(KIF1B):c.*2321A>G
|
rs567547345
|
0.00003
|
|
NM_001365951.3(KIF1B):c.*2379T>C
|
rs886044999
|
0.00003
|
|
NM_001365951.3(KIF1B):c.*4963G>A
|
rs772760264
|
0.00003
|
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
|
NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)
|
rs778288202
|
0.00003
|
|
NM_001365951.3(KIF1B):c.3129+11G>T
|
rs201224213
|
0.00003
|
|
NM_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val)
|
rs186823009
|
0.00003
|
|
NM_001387283.1(SMARCA4):c.4190T>G (p.Ile1397Ser)
|
rs534766933
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr)
|
rs111491424
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1044G>A (p.Lys348=)
|
rs566093923
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1090G>A (p.Val364Met)
|
rs1020163987
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1118+15C>T
|
rs772313092
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1134C>T (p.Ile378=)
|
rs372803010
|
0.00003
|
|
NM_003072.5(SMARCA4):c.115G>A (p.Ala39Thr)
|
rs764312409
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)
|
rs569715577
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1420-3C>T
|
rs777295398
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg)
|
rs1043517699
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1813-7T>C
|
rs1308078800
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1908C>T (p.Ala636=)
|
rs548456029
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1943+12C>G
|
rs1000981081
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2002-12G>A
|
rs377458938
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2020C>A (p.Pro674Thr)
|
rs780569107
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2142C>T (p.Val714=)
|
rs748567373
|
0.00003
|
|
NM_003072.5(SMARCA4):c.222+19G>A
|
rs759047953
|
0.00003
|
|
NM_003072.5(SMARCA4):c.223-7C>G
|
rs762146990
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2438+11G>A
|
rs750874456
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2457G>A (p.Ala819=)
|
rs368438634
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2532T>C (p.Phe844=)
|
rs779431261
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2535C>T (p.Val845=)
|
rs986151175
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=)
|
rs369724341
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2574G>A (p.Thr858=)
|
rs760653330
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2974-4G>A
|
rs766593089
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3018G>A (p.Val1006=)
|
rs752405804
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=)
|
rs149111403
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3105G>C (p.Leu1035=)
|
rs748551966
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3144C>T (p.His1048=)
|
rs778369345
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3150C>T (p.Tyr1050=)
|
rs143160246
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3390G>A (p.Thr1130=)
|
rs763248514
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3412C>T (p.Leu1138=)
|
rs760188750
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=)
|
rs768127028
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser)
|
rs200007170
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3462C>T (p.Leu1154=)
|
rs1060504465
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3759C>T (p.His1253=)
|
rs369795942
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr)
|
rs776672640
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3850G>A (p.Asp1284Asn)
|
rs765989895
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3873+6dup
|
rs1175675390
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3874-3T>C
|
rs370679578
|
0.00003
|
|
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)
|
rs143950084
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3918C>T (p.Ile1306=)
|
rs773151387
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4211T>C (p.Val1404Ala)
|
rs1240862092
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4249A>G (p.Ser1417Gly)
|
rs373390083
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr)
|
rs374722116
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu)
|
rs760654888
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4294G>A (p.Asp1432Asn)
|
rs755295556
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4425-9G>C
|
rs1416265578
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4533+5C>T
|
rs778368597
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4636-14G>C
|
rs942701381
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4673C>T (p.Thr1558Ile)
|
rs765873407
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4682G>A (p.Arg1561Gln)
|
rs201258822
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4768+9C>T
|
rs752442156
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4769-19C>T
|
rs539184412
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4769-7C>A
|
rs907366824
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro)
|
rs755493468
|
0.00003
|
|
NM_003072.5(SMARCA4):c.591C>A (p.Pro197=)
|
rs572753619
|
0.00003
|
|
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu)
|
rs1368858108
|
0.00003
|
|
NM_003072.5(SMARCA4):c.719C>T (p.Pro240Leu)
|
rs201600949
|
0.00003
|
|
NM_003072.5(SMARCA4):c.727G>A (p.Gly243Ser)
|
rs545634451
|
0.00003
|
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
|
NM_003072.5(SMARCA4):c.801C>T (p.Gly267=)
|
rs539124305
|
0.00003
|
|
NM_003072.5(SMARCA4):c.954C>G (p.Val318=)
|
rs1060504436
|
0.00003
|
|
NM_003072.5(SMARCA4):c.969G>A (p.Ser323=)
|
rs770128715
|
0.00003
|
|
NM_003073.5(SMARCB1):c.-148T>C
|
rs886057283
|
0.00003
|
|
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=)
|
rs187488637
|
0.00003
|
|
NM_003079.5(SMARCE1):c.762G>A (p.Glu254=)
|
rs374977780
|
0.00003
|
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs376671881
|
0.00003
|
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360
|
0.00003
|
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
|
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)
|
rs756919296
|
0.00003
|
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
|
NM_003640.5(ELP1):c.2386A>G (p.Met796Val)
|
rs748482757
|
0.00003
|
|
NM_003640.5(ELP1):c.2545C>G (p.Pro849Ala)
|
rs34550675
|
0.00003
|
|
NM_003640.5(ELP1):c.2790T>C (p.Asn930=)
|
rs1057521262
|
0.00003
|
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431
|
0.00003
|
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs200941360
|
0.00003
|
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369
|
0.00003
|
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046
|
0.00003
|
|
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)
|
rs769146127
|
0.00003
|
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
|
NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln)
|
rs369745249
|
0.00003
|
|
NM_003738.5(PTCH2):c.3166G>C (p.Glu1056Gln)
|
rs1488300164
|
0.00003
|
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
0.00003
|
|
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)
|
rs748614674
|
0.00003
|
|
NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val)
|
rs752867315
|
0.00003
|
|
NM_004304.5(ALK):c.-32G>A
|
rs771429852
|
0.00003
|
|
NM_004304.5(ALK):c.-624C>G
|
rs886055938
|
0.00003
|
|
NM_004304.5(ALK):c.-830C>T
|
rs1227238002
|
0.00003
|
|
NM_004304.5(ALK):c.1022G>A (p.Ser341Asn)
|
rs1279941719
|
0.00003
|
|
NM_004304.5(ALK):c.1095G>A (p.Leu365=)
|
rs1313071479
|
0.00003
|
|
NM_004304.5(ALK):c.1154G>A (p.Gly385Asp)
|
rs774127733
|
0.00003
|
|
NM_004304.5(ALK):c.1190A>T (p.Asp397Val)
|
rs368122868
|
0.00003
|
|
NM_004304.5(ALK):c.119C>T (p.Pro40Leu)
|
rs200212200
|
0.00003
|
|
NM_004304.5(ALK):c.1218C>T (p.Tyr406=)
|
rs750201156
|
0.00003
|
|
NM_004304.5(ALK):c.1452T>C (p.Asp484=)
|
rs750873368
|
0.00003
|
|
NM_004304.5(ALK):c.1529G>A (p.Arg510Gln)
|
rs776351932
|
0.00003
|
|
NM_004304.5(ALK):c.1645G>A (p.Glu549Lys)
|
rs1388997240
|
0.00003
|
|
NM_004304.5(ALK):c.1652G>A (p.Arg551Gln)
|
rs374136388
|
0.00003
|
|
NM_004304.5(ALK):c.1983C>A (p.Asn661Lys)
|
rs758860363
|
0.00003
|
|
NM_004304.5(ALK):c.2002G>A (p.Glu668Lys)
|
rs1208550472
|
0.00003
|
|
NM_004304.5(ALK):c.2127C>A (p.Asn709Lys)
|
rs376175333
|
0.00003
|
|
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)
|
rs768366852
|
0.00003
|
|
NM_004304.5(ALK):c.2452G>A (p.Gly818Arg)
|
rs777803249
|
0.00003
|
|
NM_004304.5(ALK):c.2488-8C>G
|
rs1244099578
|
0.00003
|
|
NM_004304.5(ALK):c.2497G>T (p.Gly833Ter)
|
rs74360487
|
0.00003
|
|
NM_004304.5(ALK):c.2548G>A (p.Gly850Arg)
|
rs200563480
|
0.00003
|
|
NM_004304.5(ALK):c.255C>T (p.Pro85=)
|
rs372277804
|
0.00003
|
|
NM_004304.5(ALK):c.2632+7C>T
|
rs565599959
|
0.00003
|
|
NM_004304.5(ALK):c.2759G>A (p.Gly920Asp)
|
rs746643773
|
0.00003
|
|
NM_004304.5(ALK):c.2821A>C (p.Asn941His)
|
rs1379843994
|
0.00003
|
|
NM_004304.5(ALK):c.2845G>A (p.Glu949Lys)
|
rs774004991
|
0.00003
|
|
NM_004304.5(ALK):c.298A>G (p.Arg100Gly)
|
rs764559656
|
0.00003
|
|
NM_004304.5(ALK):c.3055G>A (p.Val1019Ile)
|
rs76742576
|
0.00003
|
|
NM_004304.5(ALK):c.3067G>A (p.Val1023Met)
|
rs756986057
|
0.00003
|
|
NM_004304.5(ALK):c.3132C>T (p.Leu1044=)
|
rs776786956
|
0.00003
|
|
NM_004304.5(ALK):c.3159C>T (p.Ser1053=)
|
rs369764867
|
0.00003
|
|
NM_004304.5(ALK):c.3210G>A (p.Gln1070=)
|
rs138178848
|
0.00003
|
|
NM_004304.5(ALK):c.3300C>T (p.Gly1100=)
|
rs752819935
|
0.00003
|
|
NM_004304.5(ALK):c.3451-11T>C
|
rs376746597
|
0.00003
|
|
NM_004304.5(ALK):c.3451-20C>T
|
rs1225272641
|
0.00003
|
|
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)
|
rs145028315
|
0.00003
|
|
NM_004304.5(ALK):c.3849T>C (p.Tyr1283=)
|
rs960416635
|
0.00003
|
|
NM_004304.5(ALK):c.386G>T (p.Gly129Val)
|
rs760041708
|
0.00003
|
|
NM_004304.5(ALK):c.3905T>G (p.Met1302Arg)
|
rs749608713
|
0.00003
|
|
NM_004304.5(ALK):c.396G>C (p.Val132=)
|
rs761545303
|
0.00003
|
|
NM_004304.5(ALK):c.405C>G (p.Leu135=)
|
rs771825127
|
0.00003
|
|
NM_004304.5(ALK):c.4073+7C>T
|
rs896724137
|
0.00003
|
|
NM_004304.5(ALK):c.407G>A (p.Arg136Gln)
|
rs745712273
|
0.00003
|
|
NM_004304.5(ALK):c.4165-11C>T
|
rs377759391
|
0.00003
|
|
NM_004304.5(ALK):c.4194G>A (p.Pro1398=)
|
rs201653228
|
0.00003
|
|
NM_004304.5(ALK):c.4340C>T (p.Thr1447Ile)
|
rs554599505
|
0.00003
|
|
NM_004304.5(ALK):c.4405C>T (p.Pro1469Ser)
|
rs780571098
|
0.00003
|
|
NM_004304.5(ALK):c.4425C>T (p.His1475=)
|
rs139039449
|
0.00003
|
|
NM_004304.5(ALK):c.4455T>G (p.Pro1485=)
|
rs765346559
|
0.00003
|
|
NM_004304.5(ALK):c.4459T>C (p.Ser1487Pro)
|
rs762072069
|
0.00003
|
|
NM_004304.5(ALK):c.4481G>A (p.Gly1494Glu)
|
rs368484630
|
0.00003
|
|
NM_004304.5(ALK):c.4512C>T (p.Asn1504=)
|
rs527638667
|
0.00003
|
|
NM_004304.5(ALK):c.4522G>A (p.Gly1508Ser)
|
rs764315254
|
0.00003
|
|
NM_004304.5(ALK):c.4537G>A (p.Glu1513Lys)
|
rs374733353
|
0.00003
|
|
NM_004304.5(ALK):c.4623C>G (p.Val1541=)
|
rs774860532
|
0.00003
|
|
NM_004304.5(ALK):c.4659C>A (p.Ala1553=)
|
rs778797863
|
0.00003
|
|
NM_004304.5(ALK):c.4695T>C (p.Asn1565=)
|
rs766990201
|
0.00003
|
|
NM_004304.5(ALK):c.483G>C (p.Ala161=)
|
rs897652080
|
0.00003
|
|
NM_004304.5(ALK):c.588G>A (p.Ser196=)
|
rs781350285
|
0.00003
|
|
NM_004304.5(ALK):c.595G>T (p.Gly199Cys)
|
rs747517546
|
0.00003
|
|
NM_004304.5(ALK):c.615C>G (p.Ser205=)
|
rs567498111
|
0.00003
|
|
NM_004304.5(ALK):c.684A>G (p.Glu228=)
|
rs926663315
|
0.00003
|
|
NM_004304.5(ALK):c.833C>T (p.Pro278Leu)
|
rs199703254
|
0.00003
|
|
NM_004304.5(ALK):c.872G>A (p.Arg291His)
|
rs572340007
|
0.00003
|
|
NM_004304.5(ALK):c.919C>T (p.Pro307Ser)
|
rs199790669
|
0.00003
|
|
NM_004304.5(ALK):c.960T>C (p.Phe320=)
|
rs749339430
|
0.00003
|
|
NM_004484.4(GPC3):c.1136A>G (p.Glu379Gly)
|
rs756384130
|
0.00003
|
|
NM_004484.4(GPC3):c.1166+16T>C
|
rs1375568930
|
0.00003
|
|
NM_004484.4(GPC3):c.1398G>A (p.Leu466=)
|
rs745968470
|
0.00003
|
|
NM_004484.4(GPC3):c.1426A>G (p.Met476Val)
|
rs200265913
|
0.00003
|
|
NM_004484.4(GPC3):c.1561C>T (p.Arg521Cys)
|
rs759543703
|
0.00003
|
|
NM_004484.4(GPC3):c.1573+20C>T
|
rs368998078
|
0.00003
|
|
NM_004484.4(GPC3):c.1616G>C (p.Ser539Thr)
|
rs137858712
|
0.00003
|
|
NM_004484.4(GPC3):c.175+9G>A
|
rs776234359
|
0.00003
|
|
NM_004484.4(GPC3):c.257G>A (p.Arg86Gln)
|
rs1158430569
|
0.00003
|
|
NM_004484.4(GPC3):c.297G>A (p.Glu99=)
|
rs753227537
|
0.00003
|
|
NM_004484.4(GPC3):c.365C>T (p.Ala122Val)
|
rs779679730
|
0.00003
|
|
NM_004484.4(GPC3):c.569C>T (p.Ser190Leu)
|
rs780667597
|
0.00003
|
|
NM_004484.4(GPC3):c.607C>T (p.Arg203Cys)
|
rs756480292
|
0.00003
|
|
NM_004484.4(GPC3):c.608G>A (p.Arg203His)
|
rs375160737
|
0.00003
|
|
NM_004484.4(GPC3):c.856A>G (p.Met286Val)
|
rs763327506
|
0.00003
|
|
NM_004484.4(GPC3):c.983A>G (p.His328Arg)
|
rs761141186
|
0.00003
|
|
NM_005612.5(REST):c.843C>T (p.Cys281=)
|
rs751201019
|
0.00003
|
|
NM_005762.3(TRIM28):c.380A>G (p.Lys127Arg)
|
rs147833197
|
0.00003
|
|
NM_016169.4(SUFU):c.*2643C>G
|
rs886046663
|
0.00003
|
|
NM_016169.4(SUFU):c.*376G>A
|
rs866120174
|
0.00003
|
|
NM_016169.4(SUFU):c.*915G>C
|
rs886046656
|
0.00003
|
|
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)
|
rs746448939
|
0.00003
|
|
NM_016169.4(SUFU):c.109A>G (p.Ile37Val)
|
rs745793517
|
0.00003
|
|
NM_016169.4(SUFU):c.1157+3G>A
|
rs764861812
|
0.00003
|
|
NM_016169.4(SUFU):c.126C>G (p.Arg42=)
|
rs779935477
|
0.00003
|
|
NM_016169.4(SUFU):c.1366-8C>T
|
rs1212706214
|
0.00003
|
|
NM_016169.4(SUFU):c.1428C>T (p.Asp476=)
|
rs777069460
|
0.00003
|
|
NM_016169.4(SUFU):c.1446G>A (p.Pro482=)
|
rs761389038
|
0.00003
|
|
NM_016169.4(SUFU):c.411C>T (p.Pro137=)
|
rs946508687
|
0.00003
|
|
NM_016169.4(SUFU):c.474G>A (p.Gly158=)
|
rs375178556
|
0.00003
|
|
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)
|
rs142672533
|
0.00003
|
|
NM_016169.4(SUFU):c.543G>A (p.Glu181=)
|
rs1211026296
|
0.00003
|
|
NM_016169.4(SUFU):c.666G>T (p.Leu222=)
|
rs142383792
|
0.00003
|
|
NM_016169.4(SUFU):c.873C>T (p.Ile291=)
|
rs763453891
|
0.00003
|
|
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)
|
rs374946819
|
0.00003
|
|
NM_016169.4(SUFU):c.96G>C (p.Pro32=)
|
rs1483435746
|
0.00003
|
|
NM_024426.6(WT1):c.1017-8G>A
|
rs561297778
|
0.00003
|
|
NM_024426.6(WT1):c.1038C>T (p.Ser346=)
|
rs750018485
|
0.00003
|
|
NM_024426.6(WT1):c.1116T>C (p.Asp372=)
|
rs901264376
|
0.00003
|
|
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)
|
rs1172760612
|
0.00003
|
|
NM_024426.6(WT1):c.1124G>A (p.Arg375His)
|
rs554416372
|
0.00003
|
|
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu)
|
rs1014605516
|
0.00003
|
|
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
|
rs147241955
|
0.00003
|
|
NM_024426.6(WT1):c.151del (p.Ala51fs)
|
rs776155094
|
0.00003
|
|
NM_024426.6(WT1):c.258C>T (p.Pro86=)
|
rs1389359790
|
0.00003
|
|
NM_024426.6(WT1):c.273G>A (p.Leu91=)
|
rs1396104394
|
0.00003
|
|
NM_024426.6(WT1):c.327G>C (p.Pro109=)
|
rs777059515
|
0.00003
|
|
NM_024426.6(WT1):c.397C>A (p.Pro133Thr)
|
rs1202603651
|
0.00003
|
|
NM_024426.6(WT1):c.419C>T (p.Pro140Leu)
|
rs1164390603
|
0.00003
|
|
NM_024426.6(WT1):c.432C>T (p.Phe144=)
|
rs754173303
|
0.00003
|
|
NM_024426.6(WT1):c.475G>A (p.Glu159Lys)
|
rs768165877
|
0.00003
|
|
NM_024426.6(WT1):c.661+6T>C
|
rs557166021
|
0.00003
|
|
NM_177438.3(DICER1):c.4899A>G (p.Val1633=)
|
rs878855271
|
0.00003
|
|
NM_000059.4(BRCA2):c.1312G>T (p.Asp438Tyr)
|
rs765436962
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)
|
rs80358469
|
0.00002
|
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*1555T>C
|
rs1638935339
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*2786G>A
|
rs886045003
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*3034C>T
|
rs886045006
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*3386C>T
|
rs765149352
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*3432A>G
|
rs187082038
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*3697A>C
|
rs762218807
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*4621C>T
|
rs535976639
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*4919G>A
|
rs886045016
|
0.00002
|
|
NM_001365951.3(KIF1B):c.*4940T>A
|
rs1400589779
|
0.00002
|
|
NM_001365951.3(KIF1B):c.364-15A>G
|
rs771929965
|
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.4683C>T (p.Ser1561=)
|
rs751084365
|
0.00002
|
|
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His)
|
rs775807962
|
0.00002
|
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
|
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val)
|
rs1194755479
|
0.00002
|
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1017C>T (p.Pro339=)
|
rs772609063
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=)
|
rs374167170
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1110C>T (p.Arg370=)
|
rs754575023
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1119-3C>T
|
rs747149353
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1167C>T (p.Pro389=)
|
rs766872743
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1212C>G (p.Leu404=)
|
rs182329193
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1338C>T (p.Ser446=)
|
rs569040381
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1419+11G>T
|
rs772412983
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1420-6C>T
|
rs878854200
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1518G>A (p.Thr506=)
|
rs145369952
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)
|
rs1050237
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1742A>G (p.Lys581Arg)
|
rs765139835
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn)
|
rs772752194
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1761+17A>T
|
rs1222867721
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1812+18C>A
|
rs773139227
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1884C>T (p.Leu628=)
|
rs1200703140
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1968T>C (p.Asp656=)
|
rs750161079
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2031A>G (p.Ala677=)
|
rs761791338
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2044C>G (p.Leu682Val)
|
rs773252889
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met)
|
rs766237791
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2123+13G>A
|
rs373148510
|
0.00002
|
|
NM_003072.5(SMARCA4):c.222+15G>A
|
rs770551419
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2334C>T (p.Ala778=)
|
rs757358465
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2337C>T (p.Asp779=)
|
rs754232348
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2499T>C (p.Ser833=)
|
rs778702246
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2526G>A (p.Arg842=)
|
rs958322658
|
0.00002
|
|
NM_003072.5(SMARCA4):c.255G>A (p.Ser85=)
|
rs878854211
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2617-13C>T
|
rs774918337
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2617-4G>A
|
rs201020451
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2617-5C>T
|
rs377743250
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2730G>A (p.Thr910=)
|
rs200258214
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2904C>A (p.Leu968=)
|
rs779863039
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3027C>T (p.Arg1009=)
|
rs753389473
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3081+8C>T
|
rs775978879
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3168+8C>T
|
rs200658539
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3215+3G>A
|
rs751050884
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3276C>G (p.Leu1092=)
|
rs536795031
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3324C>A (p.Leu1108=)
|
rs750792793
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3383-15C>T
|
rs745841074
|
0.00002
|
|
NM_003072.5(SMARCA4):c.355+13G>A
|
rs764006928
|
0.00002
|
|
NM_003072.5(SMARCA4):c.356-12C>T
|
rs765020361
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3717C>T (p.Ser1239=)
|
rs746733739
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3774+14C>T
|
rs200481546
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3774+15G>A
|
rs553848593
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3799G>A (p.Gly1267Ser)
|
rs764152134
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3873+6del
|
rs751936459
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=)
|
rs373041389
|
0.00002
|
|
NM_003072.5(SMARCA4):c.390C>T (p.Ala130=)
|
rs1423034658
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3966C>T (p.Asp1322=)
|
rs878854217
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4005G>A (p.Pro1335=)
|
rs541930013
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4035G>A (p.Ser1345=)
|
rs878854220
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4147C>T (p.Leu1383=)
|
rs202144626
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4171-16A>G
|
rs774180867
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4308G>A (p.Glu1436=)
|
rs878854226
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4310G>A (p.Ser1437Asn)
|
rs1402031100
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4370A>G (p.Asn1457Ser)
|
rs1434396338
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4405G>A (p.Val1469Met)
|
rs370484739
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4424+6C>T
|
rs778283753
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4424+7G>A
|
rs753881649
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4425-11C>A
|
rs772782037
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4425-19C>T
|
rs748176071
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4446C>T (p.Ser1482=)
|
rs368337504
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4533+11C>T
|
rs374510330
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4533+19_4533+20del
|
rs758043876
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4534-11G>A
|
rs771499708
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4593C>T (p.Leu1531=)
|
rs757189400
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4605C>T (p.Asn1535=)
|
rs746699196
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4638C>T (p.Ile1546=)
|
rs758343834
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4724G>A (p.Ser1575Asn)
|
rs878854229
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val)
|
rs148115492
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4763C>T (p.Ser1588Phe)
|
rs373858447
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4769-13C>T
|
rs532169644
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4769-17C>T
|
rs1182668376
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4833C>T (p.Gly1611=)
|
rs558890921
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=)
|
rs182644267
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4911+12C>T
|
rs974634402
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4911+8C>T
|
rs1452246167
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His)
|
rs867536416
|
0.00002
|
|
NM_003072.5(SMARCA4):c.508A>T (p.Thr170Ser)
|
rs773273784
|
0.00002
|
|
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu)
|
rs778071122
|
0.00002
|
|
NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr)
|
rs1417452362
|
0.00002
|
|
NM_003072.5(SMARCA4):c.679G>T (p.Ala227Ser)
|
rs769096295
|
0.00002
|
|
NM_003072.5(SMARCA4):c.720G>A (p.Pro240=)
|
rs1023059961
|
0.00002
|
|
NM_003072.5(SMARCA4):c.790G>C (p.Gly264Arg)
|
rs746036083
|
0.00002
|
|
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met)
|
rs768522438
|
0.00002
|
|
NM_003072.5(SMARCA4):c.859+5G>A
|
rs367781236
|
0.00002
|
|
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met)
|
rs781066262
|
0.00002
|
|
NM_003072.5(SMARCA4):c.929G>A (p.Arg310His)
|
rs766422429
|
0.00002
|
|
NM_003072.5(SMARCA4):c.939C>T (p.Pro313=)
|
rs755971351
|
0.00002
|
|
NM_003072.5(SMARCA4):c.940G>A (p.Ala314Thr)
|
rs764188556
|
0.00002
|
|
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg)
|
rs775843321
|
0.00002
|
|
NM_003072.5(SMARCA4):c.9T>C (p.Thr3=)
|
rs764639389
|
0.00002
|
|
NM_003073.5(SMARCB1):c.-149C>T
|
rs886057282
|
0.00002
|
|
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met)
|
rs1387467529
|
0.00002
|
|
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)
|
rs145695677
|
0.00002
|
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
|
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met)
|
rs751957685
|
0.00002
|
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs770333327
|
0.00002
|
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs769108524
|
0.00002
|
|
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)
|
rs745948468
|
0.00002
|
|
NM_003640.5(ELP1):c.1466A>C (p.Gln489Pro)
|
rs140229715
|
0.00002
|
|
NM_003640.5(ELP1):c.150+3A>G
|
rs760208051
|
0.00002
|
|
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val)
|
rs772705478
|
0.00002
|
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
0.00002
|
|
NM_003640.5(ELP1):c.20T>G (p.Phe7Cys)
|
rs1379847365
|
0.00002
|
|
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)
|
rs201601641
|
0.00002
|
|
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys)
|
rs1181862976
|
0.00002
|
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985
|
0.00002
|
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs191464698
|
0.00002
|
|
NM_003640.5(ELP1):c.2587+10C>T
|
rs771045250
|
0.00002
|
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635
|
0.00002
|
|
NM_003640.5(ELP1):c.2807T>C (p.Ile936Thr)
|
rs199617267
|
0.00002
|
|
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)
|
rs749200669
|
0.00002
|
|
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)
|
rs750563722
|
0.00002
|
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
|
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)
|
rs147069577
|
0.00002
|
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751
|
0.00002
|
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs201168521
|
0.00002
|
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs558588647
|
0.00002
|
|
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala)
|
rs774585995
|
0.00002
|
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs775602185
|
0.00002
|
|
NM_003640.5(ELP1):c.866T>C (p.Val289Ala)
|
rs890474380
|
0.00002
|
|
NM_003738.5(PTCH2):c.1244G>A (p.Arg415Gln)
|
rs764488358
|
0.00002
|
|
NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr)
|
rs376282577
|
0.00002
|
|
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
|
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln)
|
rs751579508
|
0.00002
|
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
0.00002
|
|
NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter)
|
rs56024410
|
0.00002
|
|
NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu)
|
rs964285984
|
0.00002
|
|
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)
|
rs759792321
|
0.00002
|
|
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)
|
rs1335294030
|
0.00002
|
|
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)
|
rs1260084723
|
0.00002
|
|
NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg)
|
rs767873201
|
0.00002
|
|
NM_004304.5(ALK):c.*189T>C
|
rs886055926
|
0.00002
|
|
NM_004304.5(ALK):c.1026T>C (p.Ser342=)
|
rs958346511
|
0.00002
|
|
NM_004304.5(ALK):c.1049C>T (p.Ser350Leu)
|
rs759426382
|
0.00002
|
|
NM_004304.5(ALK):c.1062C>T (p.His354=)
|
rs749474186
|
0.00002
|
|
NM_004304.5(ALK):c.1189G>A (p.Asp397Asn)
|
rs747810439
|
0.00002
|
|
NM_004304.5(ALK):c.1225A>G (p.Ser409Gly)
|
rs374842018
|
0.00002
|
|
NM_004304.5(ALK):c.1260T>C (p.Phe420=)
|
rs774639115
|
0.00002
|
|
NM_004304.5(ALK):c.1279G>A (p.Glu427Lys)
|
rs371652715
|
0.00002
|
|
NM_004304.5(ALK):c.1376A>G (p.Gln459Arg)
|
rs773380015
|
0.00002
|
|
NM_004304.5(ALK):c.1447G>C (p.Glu483Gln)
|
rs1453170969
|
0.00002
|
|
NM_004304.5(ALK):c.1514C>T (p.Thr505Ile)
|
rs751321667
|
0.00002
|
|
NM_004304.5(ALK):c.1580C>G (p.Pro527Arg)
|
rs781414872
|
0.00002
|
|
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)
|
rs758494304
|
0.00002
|
|
NM_004304.5(ALK):c.1648-11C>T
|
rs751420024
|
0.00002
|
|
NM_004304.5(ALK):c.1650C>G (p.Leu550=)
|
rs762374963
|
0.00002
|
|
NM_004304.5(ALK):c.1663C>T (p.Leu555Phe)
|
rs769229444
|
0.00002
|
|
NM_004304.5(ALK):c.1710G>A (p.Glu570=)
|
rs751328130
|
0.00002
|
|
NM_004304.5(ALK):c.1817+13C>A
|
rs764293538
|
0.00002
|
|
NM_004304.5(ALK):c.1827G>A (p.Leu609=)
|
rs140284088
|
0.00002
|
|
NM_004304.5(ALK):c.1837G>A (p.Ala613Thr)
|
rs61744521
|
0.00002
|
|
NM_004304.5(ALK):c.1866C>T (p.Ile622=)
|
rs139123232
|
0.00002
|
|
NM_004304.5(ALK):c.1976A>G (p.Asn659Ser)
|
rs980989671
|
0.00002
|
|
NM_004304.5(ALK):c.2016A>T (p.Arg672Ser)
|
rs1060500225
|
0.00002
|
|
NM_004304.5(ALK):c.2080C>T (p.His694Tyr)
|
rs772087086
|
0.00002
|
|
NM_004304.5(ALK):c.2151G>C (p.Glu717Asp)
|
rs772363561
|
0.00002
|
|
NM_004304.5(ALK):c.2205-20C>T
|
rs371397667
|
0.00002
|
|
NM_004304.5(ALK):c.2211G>A (p.Ser737=)
|
rs755251302
|
0.00002
|
|
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)
|
rs762395127
|
0.00002
|
|
NM_004304.5(ALK):c.2263C>A (p.His755Asn)
|
rs925915337
|
0.00002
|
|
NM_004304.5(ALK):c.2265C>T (p.His755=)
|
rs770603023
|
0.00002
|
|
NM_004304.5(ALK):c.2266G>A (p.Gly756Ser)
|
rs747611056
|
0.00002
|
|
NM_004304.5(ALK):c.2356-16del
|
rs752838625
|
0.00002
|
|
NM_004304.5(ALK):c.2356-20C>T
|
rs577586643
|
0.00002
|
|
NM_004304.5(ALK):c.2384T>C (p.Ile795Thr)
|
rs763503560
|
0.00002
|
|
NM_004304.5(ALK):c.2487+4_2487+5insA
|
rs755502856
|
0.00002
|
|
NM_004304.5(ALK):c.2565G>A (p.Thr855=)
|
rs752329968
|
0.00002
|
|
NM_004304.5(ALK):c.2569C>T (p.His857Tyr)
|
rs754393402
|
0.00002
|
|
NM_004304.5(ALK):c.2654A>G (p.Asp885Gly)
|
rs745406091
|
0.00002
|
|
NM_004304.5(ALK):c.2703C>T (p.Thr901=)
|
rs375296866
|
0.00002
|
|
NM_004304.5(ALK):c.2712T>A (p.His904Gln)
|
rs766742720
|
0.00002
|
|
NM_004304.5(ALK):c.2764G>A (p.Gly922Arg)
|
rs745317944
|
0.00002
|
|
NM_004304.5(ALK):c.2770G>C (p.Gly924Arg)
|
rs78086548
|
0.00002
|
|
NM_004304.5(ALK):c.2802C>T (p.Gly934=)
|
rs751581475
|
0.00002
|
|
NM_004304.5(ALK):c.2816-3C>T
|
rs533733008
|
0.00002
|
|
NM_004304.5(ALK):c.2844C>T (p.Pro948=)
|
rs759086883
|
0.00002
|
|
NM_004304.5(ALK):c.2856G>A (p.Gly952=)
|
rs1323611569
|
0.00002
|
|
NM_004304.5(ALK):c.286G>A (p.Ala96Thr)
|
rs1057065255
|
0.00002
|
|
NM_004304.5(ALK):c.2875A>G (p.Ile959Val)
|
rs748167212
|
0.00002
|
|
NM_004304.5(ALK):c.2895G>A (p.Leu965=)
|
rs528928041
|
0.00002
|
|
NM_004304.5(ALK):c.2979C>T (p.Asp993=)
|
rs761999849
|
0.00002
|
|
NM_004304.5(ALK):c.2999A>G (p.Glu1000Gly)
|
rs776287213
|
0.00002
|
|
NM_004304.5(ALK):c.3068-12C>A
|
rs1020176274
|
0.00002
|
|
NM_004304.5(ALK):c.3076A>G (p.Thr1026Ala)
|
rs781515382
|
0.00002
|
|
NM_004304.5(ALK):c.3170T>C (p.Ile1057Thr)
|
rs747594544
|
0.00002
|
|
NM_004304.5(ALK):c.3250C>T (p.Arg1084Cys)
|
rs768123237
|
0.00002
|
|
NM_004304.5(ALK):c.3330G>C (p.Glu1110Asp)
|
rs140606509
|
0.00002
|
|
NM_004304.5(ALK):c.348C>T (p.Ala116=)
|
rs575314773
|
0.00002
|
|
NM_004304.5(ALK):c.3513C>G (p.Ile1171Met)
|
rs760322018
|
0.00002
|
|
NM_004304.5(ALK):c.3574C>T (p.Arg1192Trp)
|
rs534852056
|
0.00002
|
|
NM_004304.5(ALK):c.3595A>T (p.Met1199Leu)
|
rs1400239417
|
0.00002
|
|
NM_004304.5(ALK):c.3625C>T (p.Arg1209Ter)
|
rs769449619
|
0.00002
|
|
NM_004304.5(ALK):c.3641G>A (p.Arg1214His)
|
rs750194005
|
0.00002
|
|
NM_004304.5(ALK):c.3645+14A>G
|
rs764315663
|
0.00002
|
|
NM_004304.5(ALK):c.3656C>T (p.Ser1219Phe)
|
rs752728718
|
0.00002
|
|
NM_004304.5(ALK):c.3660C>G (p.Ser1220=)
|
rs202010057
|
0.00002
|
|
NM_004304.5(ALK):c.3884G>A (p.Trp1295Ter)
|
rs1417330585
|
0.00002
|
|
NM_004304.5(ALK):c.3939-9C>T
|
rs749848775
|
0.00002
|
|
NM_004304.5(ALK):c.4076A>G (p.Tyr1359Cys)
|
rs748787875
|
0.00002
|
|
NM_004304.5(ALK):c.4079G>A (p.Arg1360Gln)
|
rs1215186876
|
0.00002
|
|
NM_004304.5(ALK):c.4165-12C>T
|
rs757342767
|
0.00002
|
|
NM_004304.5(ALK):c.4210C>G (p.Leu1404Val)
|
rs757615099
|
0.00002
|
|
NM_004304.5(ALK):c.4211T>C (p.Leu1404Pro)
|
rs377129811
|
0.00002
|
|
NM_004304.5(ALK):c.4257G>A (p.Glu1419=)
|
rs888028409
|
0.00002
|
|
NM_004304.5(ALK):c.4281T>C (p.Ser1427=)
|
rs893790294
|
0.00002
|
|
NM_004304.5(ALK):c.428T>G (p.Leu143Arg)
|
rs777656583
|
0.00002
|
|
NM_004304.5(ALK):c.433C>T (p.Leu145=)
|
rs1022616693
|
0.00002
|
|
NM_004304.5(ALK):c.4406C>T (p.Pro1469Leu)
|
rs758625575
|
0.00002
|
|
NM_004304.5(ALK):c.4454C>T (p.Pro1485Leu)
|
rs556061961
|
0.00002
|
|
NM_004304.5(ALK):c.4480G>A (p.Gly1494Arg)
|
rs199940609
|
0.00002
|
|
NM_004304.5(ALK):c.4524C>T (p.Gly1508=)
|
rs760733288
|
0.00002
|
|
NM_004304.5(ALK):c.4594A>G (p.Asn1532Asp)
|
rs563126725
|
0.00002
|
|
NM_004304.5(ALK):c.4619C>G (p.Thr1540Ser)
|
rs1215255332
|
0.00002
|
|
NM_004304.5(ALK):c.4723C>T (p.Arg1575Cys)
|
rs148351049
|
0.00002
|
|
NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser)
|
rs751677905
|
0.00002
|
|
NM_004304.5(ALK):c.4813G>A (p.Glu1605Lys)
|
rs754214919
|
0.00002
|
|
NM_004304.5(ALK):c.4821C>G (p.Thr1607=)
|
rs761101687
|
0.00002
|
|
NM_004304.5(ALK):c.4824T>C (p.Ile1608=)
|
rs537603430
|
0.00002
|
|
NM_004304.5(ALK):c.4839T>G (p.Asn1613Lys)
|
rs1487769564
|
0.00002
|
|
NM_004304.5(ALK):c.4859C>T (p.Pro1620Leu)
|
rs1383494876
|
0.00002
|
|
NM_004304.5(ALK):c.48G>A (p.Thr16=)
|
rs758016860
|
0.00002
|
|
NM_004304.5(ALK):c.513C>T (p.Ser171=)
|
rs534035801
|
0.00002
|
|
NM_004304.5(ALK):c.628G>A (p.Ala210Thr)
|
rs755697363
|
0.00002
|
|
NM_004304.5(ALK):c.697A>G (p.Met233Val)
|
rs771254732
|
0.00002
|
|
NM_004304.5(ALK):c.723T>A (p.Phe241Leu)
|
rs146281095
|
0.00002
|
|
NM_004304.5(ALK):c.75C>T (p.Thr25=)
|
rs764176323
|
0.00002
|
|
NM_004304.5(ALK):c.80A>G (p.Gln27Arg)
|
rs752501243
|
0.00002
|
|
NM_004304.5(ALK):c.819G>T (p.Glu273Asp)
|
rs758537157
|
0.00002
|
|
NM_004304.5(ALK):c.871C>T (p.Arg291Cys)
|
rs748854412
|
0.00002
|
|
NM_004304.5(ALK):c.920_922dup (p.Pro307_Gly308insAla)
|
rs746818719
|
0.00002
|
|
NM_004304.5(ALK):c.924G>A (p.Gly308=)
|
rs878854660
|
0.00002
|
|
NM_004304.5(ALK):c.952+12G>T
|
rs754270761
|
0.00002
|
|
NM_004304.5(ALK):c.983A>G (p.Asp328Gly)
|
rs556138942
|
0.00002
|
|
NM_004484.4(GPC3):c.1002C>T (p.Val334=)
|
rs747775536
|
0.00002
|
|
NM_004484.4(GPC3):c.1037G>T (p.Gly346Val)
|
rs373916851
|
0.00002
|
|
NM_004484.4(GPC3):c.1041G>A (p.Lys347=)
|
rs775325256
|
0.00002
|
|
NM_004484.4(GPC3):c.1061A>G (p.Gln354Arg)
|
rs1247273709
|
0.00002
|
|
NM_004484.4(GPC3):c.1068A>G (p.Gln356=)
|
rs372212269
|
0.00002
|
|
NM_004484.4(GPC3):c.1114G>A (p.Val372Ile)
|
rs140756498
|
0.00002
|
|
NM_004484.4(GPC3):c.1131T>C (p.His377=)
|
rs367679653
|
0.00002
|
|
NM_004484.4(GPC3):c.1157G>T (p.Ser386Ile)
|
rs773847304
|
0.00002
|
|
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys)
|
rs757475450
|
0.00002
|
|
NM_004484.4(GPC3):c.1164A>G (p.Arg388=)
|
rs774959145
|
0.00002
|
|
NM_004484.4(GPC3):c.1266C>T (p.Cys422=)
|
rs372843769
|
0.00002
|
|
NM_004484.4(GPC3):c.1323G>A (p.Met441Ile)
|
rs773146310
|
0.00002
|
|
NM_004484.4(GPC3):c.1332G>A (p.Gln444=)
|
rs771847990
|
0.00002
|
|
NM_004484.4(GPC3):c.1359G>C (p.Lys453Asn)
|
rs148219256
|
0.00002
|
|
NM_004484.4(GPC3):c.1495G>A (p.Gly499Ser)
|
rs995058278
|
0.00002
|
|
NM_004484.4(GPC3):c.1546G>A (p.Val516Met)
|
rs1803692
|
0.00002
|
|
NM_004484.4(GPC3):c.1573+8A>G
|
rs1386448988
|
0.00002
|
|
NM_004484.4(GPC3):c.1639A>G (p.Asn547Asp)
|
rs773437908
|
0.00002
|
|
NM_004484.4(GPC3):c.175+12T>G
|
rs765877667
|
0.00002
|
|
NM_004484.4(GPC3):c.22G>A (p.Ala8Thr)
|
rs772076246
|
0.00002
|
|
NM_004484.4(GPC3):c.273G>T (p.Gln91His)
|
rs1017256114
|
0.00002
|
|
NM_004484.4(GPC3):c.318G>C (p.Gln106His)
|
rs750139856
|
0.00002
|
|
NM_004484.4(GPC3):c.367A>G (p.Lys123Glu)
|
rs755733724
|
0.00002
|
|
NM_004484.4(GPC3):c.369G>C (p.Lys123Asn)
|
rs201942331
|
0.00002
|
|
NM_004484.4(GPC3):c.397A>C (p.Asn133His)
|
rs1339940057
|
0.00002
|
|
NM_004484.4(GPC3):c.39G>T (p.Ala13=)
|
rs1057522079
|
0.00002
|
|
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser)
|
rs780431445
|
0.00002
|
|
NM_004484.4(GPC3):c.610G>T (p.Asp204Tyr)
|
rs751267769
|
0.00002
|
|
NM_004484.4(GPC3):c.627G>A (p.Gly209=)
|
rs1297328008
|
0.00002
|
|
NM_004484.4(GPC3):c.693G>A (p.Gln231=)
|
rs768782219
|
0.00002
|
|
NM_004484.4(GPC3):c.733C>A (p.His245Asn)
|
rs199778216
|
0.00002
|
|
NM_004484.4(GPC3):c.897C>T (p.Tyr299=)
|
rs200421668
|
0.00002
|
|
NM_004484.4(GPC3):c.946A>G (p.Met316Val)
|
rs764148728
|
0.00002
|
|
NM_004484.4(GPC3):c.958C>G (p.Leu320Val)
|
rs372222280
|
0.00002
|
|
NM_005612.5(REST):c.1747A>G (p.Thr583Ala)
|
rs752454165
|
0.00002
|
|
NM_005612.5(REST):c.1902G>A (p.Met634Ile)
|
rs777213931
|
0.00002
|
|
NM_005612.5(REST):c.2917A>G (p.Met973Val)
|
rs773073831
|
0.00002
|
|
NM_005612.5(REST):c.416A>G (p.Asp139Gly)
|
rs112115500
|
0.00002
|
|
NM_016169.4(SUFU):c.*1908C>G
|
rs764234968
|
0.00002
|
|
NM_016169.4(SUFU):c.*3025T>C
|
rs896765914
|
0.00002
|
|
NM_016169.4(SUFU):c.*844G>A
|
rs1032441274
|
0.00002
|
|
NM_016169.4(SUFU):c.1008C>T (p.Ala336=)
|
rs770049693
|
0.00002
|
|
NM_016169.4(SUFU):c.1010A>G (p.His337Arg)
|
rs377274250
|
0.00002
|
|
NM_016169.4(SUFU):c.1157+7G>A
|
rs371548374
|
0.00002
|
|
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys)
|
rs766508656
|
0.00002
|
|
NM_016169.4(SUFU):c.1221G>A (p.Thr407=)
|
rs555064651
|
0.00002
|
|
NM_016169.4(SUFU):c.1280A>G (p.His427Arg)
|
rs771305734
|
0.00002
|
|
NM_016169.4(SUFU):c.1300C>T (p.Leu434=)
|
rs369670140
|
0.00002
|
|
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg)
|
rs772598739
|
0.00002
|
|
NM_016169.4(SUFU):c.1437C>T (p.Phe479=)
|
rs768454343
|
0.00002
|
|
NM_016169.4(SUFU):c.169A>G (p.Ile57Val)
|
rs377614167
|
0.00002
|
|
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser)
|
rs141532626
|
0.00002
|
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
|
NM_016169.4(SUFU):c.405A>G (p.Thr135=)
|
rs760827494
|
0.00002
|
|
NM_016169.4(SUFU):c.441C>T (p.Tyr147=)
|
rs201489422
|
0.00002
|
|
NM_016169.4(SUFU):c.455-18C>T
|
rs760955559
|
0.00002
|
|
NM_016169.4(SUFU):c.597+6G>A
|
rs1038799345
|
0.00002
|
|
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln)
|
rs199673680
|
0.00002
|
|
NM_016169.4(SUFU):c.678G>A (p.Val226=)
|
rs201328407
|
0.00002
|
|
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)
|
rs766666529
|
0.00002
|
|
NM_016169.4(SUFU):c.682A>G (p.Ile228Val)
|
rs555976050
|
0.00002
|
|
NM_016169.4(SUFU):c.683+8C>T
|
rs369232884
|
0.00002
|
|
NM_016169.4(SUFU):c.684-14T>G
|
rs2063433799
|
0.00002
|
|
NM_016169.4(SUFU):c.684-17C>G
|
rs1454924481
|
0.00002
|
|
NM_016169.4(SUFU):c.703A>G (p.Ile235Val)
|
rs144666812
|
0.00002
|
|
NM_016169.4(SUFU):c.715C>A (p.Arg239=)
|
rs369465986
|
0.00002
|
|
NM_016169.4(SUFU):c.807C>T (p.Val269=)
|
rs919110211
|
0.00002
|
|
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp)
|
rs771255988
|
0.00002
|
|
NM_016169.4(SUFU):c.911-16A>C
|
rs777832144
|
0.00002
|
|
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)
|
rs770246373
|
0.00002
|
|
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)
|
rs376797758
|
0.00002
|
|
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys)
|
rs988284678
|
0.00002
|
|
NM_024426.6(WT1):c.*110C>T
|
rs757474299
|
0.00002
|
|
NM_024426.6(WT1):c.*785C>A
|
rs886048214
|
0.00002
|
|
NM_024426.6(WT1):c.1017-4G>C
|
rs1043846933
|
0.00002
|
|
NM_024426.6(WT1):c.1092C>A (p.His364Gln)
|
rs587778756
|
0.00002
|
|
NM_024426.6(WT1):c.1114-15A>T
|
rs776971636
|
0.00002
|
|
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln)
|
rs772590420
|
0.00002
|
|
NM_024426.6(WT1):c.1264+13G>A
|
rs769034786
|
0.00002
|
|
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln)
|
rs144788858
|
0.00002
|
|
NM_024426.6(WT1):c.146G>T (p.Gly49Val)
|
rs1475923286
|
0.00002
|
|
NM_024426.6(WT1):c.1515C>A (p.Val505=)
|
rs1338629886
|
0.00002
|
|
NM_024426.6(WT1):c.1563G>A (p.Ala521=)
|
rs202118284
|
0.00002
|
|
NM_024426.6(WT1):c.159C>T (p.Ala53=)
|
rs1021307133
|
0.00002
|
|
NM_024426.6(WT1):c.198G>T (p.Ala66=)
|
rs955105743
|
0.00002
|
|
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
|
rs1036899554
|
0.00002
|
|
NM_024426.6(WT1):c.248C>T (p.Ala83Val)
|
rs1278102757
|
0.00002
|
|
NM_024426.6(WT1):c.297G>A (p.Leu99=)
|
rs1407193832
|
0.00002
|
|
NM_024426.6(WT1):c.406C>A (p.Pro136Thr)
|
rs748045691
|
0.00002
|
|
NM_024426.6(WT1):c.417G>A (p.Pro139=)
|
rs758361767
|
0.00002
|
|
NM_024426.6(WT1):c.586G>A (p.Gly196Ser)
|
rs756501972
|
0.00002
|
|
NM_024426.6(WT1):c.587G>A (p.Gly196Asp)
|
rs753112302
|
0.00002
|
|
NM_024426.6(WT1):c.627C>T (p.Ser209=)
|
rs761530541
|
0.00002
|
|
NM_024426.6(WT1):c.628T>G (p.Cys210Gly)
|
rs776426005
|
0.00002
|
|
NM_024426.6(WT1):c.675C>T (p.Val225=)
|
rs1172028723
|
0.00002
|
|
NM_024426.6(WT1):c.687G>C (p.Gly229=)
|
rs760001898
|
0.00002
|
|
NM_024426.6(WT1):c.711C>T (p.Pro237=)
|
rs183263057
|
0.00002
|
|
NM_024426.6(WT1):c.714G>T (p.Ser238=)
|
rs772409488
|
0.00002
|
|
NM_024426.6(WT1):c.736A>G (p.Asn246Asp)
|
rs1285224919
|
0.00002
|
|
NM_024426.6(WT1):c.779C>T (p.Ser260Leu)
|
rs1444869026
|
0.00002
|
|
NM_024426.6(WT1):c.784+11G>A
|
rs376463157
|
0.00002
|
|
NM_024426.6(WT1):c.78G>A (p.Gly26=)
|
rs1240715155
|
0.00002
|
|
NM_024426.6(WT1):c.806C>G (p.Pro269Arg)
|
rs756078681
|
0.00002
|
|
NM_024426.6(WT1):c.830C>T (p.Thr277Ile)
|
rs138073760
|
0.00002
|
|
NM_024426.6(WT1):c.852C>G (p.Gly284=)
|
rs548704325
|
0.00002
|
|
NM_024426.6(WT1):c.887+4G>A
|
rs778673400
|
0.00002
|
|
NM_024426.6(WT1):c.996A>G (p.Lys332=)
|
rs758410591
|
0.00002
|
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
|
NM_177438.3(DICER1):c.1377-18T>A
|
rs1032236740
|
0.00002
|
|
NM_177438.3(DICER1):c.2378A>G (p.Tyr793Cys)
|
rs527568726
|
0.00002
|
|
NM_177438.3(DICER1):c.4407T>C (p.Leu1469=)
|
rs540502223
|
0.00002
|
|
NM_177438.3(DICER1):c.4796G>A (p.Arg1599Gln)
|
rs569615549
|
0.00002
|
|
NM_203447.4(DOCK8):c.1416C>G (p.Phe472Leu)
|
rs1443199004
|
0.00002
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)
|
rs779075029
|
0.00001
|
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
|
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly)
|
rs1005568368
|
0.00001
|
|
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly)
|
rs786201654
|
0.00001
|
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
|
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe)
|
rs587778118
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)
|
rs730881518
|
0.00001
|
|
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr)
|
rs80358564
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs)
|
rs397507668
|
0.00001
|
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
rs431825308
|
0.00001
|
|
NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn)
|
rs774392592
|
0.00001
|
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
|
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)
|
rs587782795
|
0.00001
|
|
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)
|
rs80359452
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
|
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu)
|
rs587781763
|
0.00001
|
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
|
NM_000059.4(BRCA2):c.5115A>G (p.Ile1705Met)
|
rs878853588
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
|
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr)
|
rs587782320
|
0.00001
|
|
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu)
|
rs587782597
|
0.00001
|
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
|
NM_000059.4(BRCA2):c.6559C>T (p.Pro2187Ser)
|
rs868216475
|
0.00001
|
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
|
NM_000059.4(BRCA2):c.7072T>C (p.Ser2358Pro)
|
rs80358937
|
0.00001
|
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
|
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg)
|
rs398122611
|
0.00001
|
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
|
NM_000059.4(BRCA2):c.9560A>G (p.Asn3187Ser)
|
rs1329182873
|
0.00001
|
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
|
NM_000142.5(FGFR3):c.991T>C (p.Phe331Leu)
|
rs1246952737
|
0.00001
|
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00001
|
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*1104C>T
|
rs886044995
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*2412A>G
|
rs886045000
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*2743G>A
|
rs886045002
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*2840G>A
|
rs886045004
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*3146T>C
|
rs886045007
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*3355C>A
|
rs1251172414
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*3921C>T
|
rs1638995010
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*4697A>G
|
rs886045015
|
0.00001
|
|
NM_001365951.3(KIF1B):c.*744C>A
|
rs886044994
|
0.00001
|
|
NM_001365951.3(KIF1B):c.-127G>A
|
rs528568887
|
0.00001
|
|
NM_001365951.3(KIF1B):c.-68G>A
|
rs529564378
|
0.00001
|
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
|
NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)
|
rs752674254
|
0.00001
|
|
NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)
|
rs769781641
|
0.00001
|
|
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)
|
rs755314640
|
0.00001
|
|
NM_001365951.3(KIF1B):c.3513+7G>T
|
rs1174031782
|
0.00001
|
|
NM_001365951.3(KIF1B):c.364-10A>G
|
rs886044966
|
0.00001
|
|
NM_001365951.3(KIF1B):c.3725G>T (p.Ser1242Ile)
|
rs745380720
|
0.00001
|
|
NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)
|
rs746980680
|
0.00001
|
|
NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe)
|
rs760253167
|
0.00001
|
|
NM_001365951.3(KIF1B):c.4179T>C (p.His1393=)
|
rs772429569
|
0.00001
|
|
NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)
|
rs375130478
|
0.00001
|
|
NM_001365951.3(KIF1B):c.4642C>G (p.Gln1548Glu)
|
rs1331941619
|
0.00001
|
|
NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr)
|
rs200255510
|
0.00001
|
|
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)
|
rs150737970
|
0.00001
|
|
NM_001365951.3(KIF1B):c.721-15A>G
|
rs755866386
|
0.00001
|
|
NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)
|
rs141637645
|
0.00001
|
|
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg)
|
rs1412562086
|
0.00001
|
|
NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala)
|
rs1394064377
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4176T>C (p.Ile1392=)
|
rs772450555
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4193A>G (p.His1398Arg)
|
rs878854221
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4202C>T (p.Ala1401Val)
|
rs771008873
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys)
|
rs587778686
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4217G>A (p.Arg1406His)
|
rs779801126
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4227A>G (p.Gln1409=)
|
rs909983958
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4233G>T (p.Gln1411His)
|
rs780721689
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4234C>T (p.Arg1412Cys)
|
rs747852149
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4235G>A (p.Arg1412His)
|
rs769555654
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4240C>T (p.Leu1414Phe)
|
rs746165832
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4266G>A (p.Lys1422=)
|
rs896036433
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1000G>A (p.Gly334Arg)
|
rs1364450672
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)
|
rs765058736
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1008G>A (p.Pro336=)
|
rs749986864
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1013A>G (p.Gln338Arg)
|
rs757896781
|
0.00001
|
|
NM_003072.5(SMARCA4):c.101C>G (p.Pro34Arg)
|
rs2085811631
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1020G>A (p.Ala340=)
|
rs778158927
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1029G>A (p.Val343=)
|
rs749780867
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1033C>T (p.Leu345=)
|
rs888226264
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1041G>A (p.Gln347=)
|
rs773687860
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)
|
rs777628688
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1051C>T (p.Arg351Cys)
|
rs2086199522
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His)
|
rs1018881303
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1059C>A (p.Thr353=)
|
rs1060504448
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1073C>T (p.Pro358Leu)
|
rs1060502094
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1075C>T (p.Arg359Trp)
|
rs1213473194
|
0.00001
|
|
NM_003072.5(SMARCA4):c.107C>T (p.Pro36Leu)
|
rs766176476
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1084G>A (p.Asp362Asn)
|
rs776534924
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met)
|
rs532242119
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1116C>T (p.Tyr372=)
|
rs878854198
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1118+8C>T
|
rs757550479
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1118+9G>A
|
rs779489771
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1119-10C>T
|
rs759026373
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr)
|
rs769660597
|
0.00001
|
|
NM_003072.5(SMARCA4):c.114C>T (p.Ser38=)
|
rs148970517
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1152A>G (p.Glu384=)
|
rs770921864
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1155T>G (p.Leu385=)
|
rs201099398
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1158A>G (p.Glu386=)
|
rs1268876800
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1161C>T (p.Asn387=)
|
rs1555756330
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1173C>T (p.Ser391=)
|
rs1319047096
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1179C>T (p.Ala393=)
|
rs373168068
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1199C>T (p.Ala400Val)
|
rs1246299696
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1200G>A (p.Ala400=)
|
rs763820669
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1204A>G (p.Ile402Val)
|
rs750861625
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1245+13A>G
|
rs372704442
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1245+14T>G
|
rs749138449
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1245+19G>A
|
rs552713877
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1245+19G>T
|
rs552713877
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1245+7G>A
|
rs1383678604
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1245+9T>C
|
rs756341190
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1246-10C>T
|
rs749444434
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1246-11C>T
|
rs777983792
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1246-14C>T
|
rs974348168
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1246-6C>T
|
rs916108093
|
0.00001
|
|
NM_003072.5(SMARCA4):c.126G>A (p.Met42Ile)
|
rs765325777
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1274G>A (p.Arg425Gln)
|
rs377549345
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1284A>G (p.Thr428=)
|
rs1201442083
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1290G>A (p.Leu430=)
|
rs1421114940
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1299C>T (p.Ala433=)
|
rs1405255618
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1303A>G (p.Asn435Asp)
|
rs371062068
|
0.00001
|
|
NM_003072.5(SMARCA4):c.131G>A (p.Gly44Glu)
|
rs1344101243
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1320G>A (p.Lys440=)
|
rs776431136
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1322G>A (p.Arg441His)
|
rs761519909
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1330C>T (p.Arg444Cys)
|
rs550815250
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1341G>A (p.Leu447=)
|
rs147558972
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1353C>T (p.Arg451=)
|
rs1060504437
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1403G>A (p.Arg468His)
|
rs1310204828
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1407G>A (p.Arg469=)
|
rs1600024645
|
0.00001
|
|
NM_003072.5(SMARCA4):c.140C>T (p.Pro47Leu)
|
rs1284152280
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1410G>A (p.Gln470=)
|
rs376367395
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1419+10G>A
|
rs759831368
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1420-5T>G
|
rs2086878882
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1430A>G (p.Asn477Ser)
|
rs748930248
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1476C>T (p.Ser492=)
|
rs528531511
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1477G>A (p.Val493Ile)
|
rs372078902
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1482A>G (p.Thr494=)
|
rs1060504463
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1500G>A (p.Leu500=)
|
rs1060504432
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1517C>T (p.Thr506Met)
|
rs1286498410
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1533G>A (p.Thr511=)
|
rs1415983739
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1566C>T (p.Ile522=)
|
rs916632140
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1578C>T (p.Arg526=)
|
rs1200699655
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1594-12A>G
|
rs1290084345
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1594-16C>T
|
rs375437147
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1594-8T>C
|
rs753174460
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1596T>C (p.Ala532=)
|
rs939033260
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1623C>T (p.Leu541=)
|
rs145905292
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1626C>T (p.Ile542=)
|
rs771156293
|
0.00001
|
|
NM_003072.5(SMARCA4):c.163C>T (p.Pro55Ser)
|
rs1218848193
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1674C>T (p.Asp558=)
|
rs147798066
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1680C>T (p.Tyr560=)
|
rs375507937
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1695G>A (p.Thr565=)
|
rs1173206989
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1761+15G>T
|
rs373310523
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1762-10C>A
|
rs754221543
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1762-11T>C
|
rs1350024072
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1765G>A (p.Ala589Thr)
|
rs765850087
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1774G>A (p.Ala592Thr)
|
rs1257518561
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu)
|
rs750891894
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met)
|
rs779952581
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1788G>A (p.Thr596=)
|
rs148055156
|
0.00001
|
|
NM_003072.5(SMARCA4):c.178G>A (p.Gly60Arg)
|
rs1307434805
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1796T>C (p.Ile599Thr)
|
rs1207080512
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1809C>T (p.Gly603=)
|
rs1212410709
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1812+12G>C
|
rs1474190001
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1813-13G>T
|
rs1255721020
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1813-15A>G
|
rs751661108
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1839C>T (p.Ser613=)
|
rs752850198
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1848G>A (p.Pro616=)
|
rs138721614
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1863C>T (p.His621=)
|
rs199820703
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1864G>A (p.Val622Met)
|
rs745382051
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1886C>T (p.Thr629Ile)
|
rs947818318
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp)
|
rs749533909
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1907C>G (p.Ala636Gly)
|
rs201807686
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1909G>A (p.Gly637Arg)
|
rs917552239
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val)
|
rs587778680
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1933A>T (p.Met645Leu)
|
rs763375817
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu)
|
rs2087817276
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1943+19T>A
|
rs373429976
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1943+9G>A
|
rs752048323
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1944-13dup
|
rs1452629611
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1944-9T>G
|
rs764313121
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1944G>A (p.Gly648=)
|
rs754024829
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1958C>T (p.Pro653Leu)
|
rs774927302
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1974A>G (p.Glu658=)
|
rs1256168562
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1982G>A (p.Gly661Asp)
|
rs367689657
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1983C>T (p.Gly661=)
|
rs1555768770
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1989A>G (p.Glu663=)
|
rs780138299
|
0.00001
|
|
NM_003072.5(SMARCA4):c.19C>A (p.Pro7Thr)
|
rs762625346
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2001+10C>T
|
rs375206556
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2001+20C>T
|
rs978144365
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2001+5G>A
|
rs780996751
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2001+5G>T
|
rs780996751
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2001+7G>C
|
rs747797356
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2002-4G>A
|
rs746254916
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2002-8C>T
|
rs1321200464
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
0.00001
|
|
NM_003072.5(SMARCA4):c.205A>G (p.Met69Val)
|
rs2085822268
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2066A>T (p.Lys689Met)
|
rs767328169
|
0.00001
|
|
NM_003072.5(SMARCA4):c.206T>C (p.Met69Thr)
|
rs1443052655
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2082C>T (p.Asp694=)
|
rs373420556
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2086G>A (p.Asp696Asn)
|
rs1486794288
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2106C>T (p.Asp702=)
|
rs758781256
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2110C>T (p.Arg704Trp)
|
rs781539973
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2123+7G>T
|
rs748276210
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2124-11C>G
|
rs1415958916
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2124-17C>T
|
rs778529842
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2124-5C>A
|
rs182602020
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2124-7C>T
|
rs1327774042
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2157C>T (p.Gly719=)
|
rs756240718
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2171T>G (p.Leu724Arg)
|
rs1414018244
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2177G>A (p.Arg726His)
|
rs749349816
|
0.00001
|
|
NM_003072.5(SMARCA4):c.218A>G (p.His73Arg)
|
rs748147246
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2193C>T (p.Tyr731=)
|
rs1600188323
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2205C>T (p.Ala735=)
|
rs774655261
|
0.00001
|
|
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln)
|
rs1060502059
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2214C>T (p.Val738=)
|
rs1186978984
|
0.00001
|
|
NM_003072.5(SMARCA4):c.222+8T>A
|
rs1421634123
|
0.00001
|
|
NM_003072.5(SMARCA4):c.222+9C>T
|
rs1477506632
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2229C>T (p.Asp743=)
|
rs1233181843
|
0.00001
|
|
NM_003072.5(SMARCA4):c.223-16A>G
|
rs1284168138
|
0.00001
|
|
NM_003072.5(SMARCA4):c.223-16A>T
|
rs1284168138
|
0.00001
|
|
NM_003072.5(SMARCA4):c.223-9C>G
|
rs569296824
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg)
|
rs1291938544
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2239G>A (p.Ala747Thr)
|
rs1228221272
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2240C>T (p.Ala747Val)
|
rs2088720436
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2241G>A (p.Ala747=)
|
rs1236572142
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2244T>A (p.Leu748=)
|
rs756276556
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2257G>A (p.Val753Ile)
|
rs1483352845
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2274+10G>A
|
rs1414642513
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2274+12G>A
|
rs1405144617
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2274+13G>A
|
rs764057604
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2274+8A>T
|
rs773310711
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2275-14A>G
|
rs2088996344
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2286G>A (p.Leu762=)
|
rs1600208852
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2293C>T (p.Leu765=)
|
rs1555774640
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2304G>A (p.Leu768=)
|
rs772638166
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2319G>A (p.Leu773=)
|
rs773999088
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=)
|
rs762449855
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2355G>A (p.Lys785=)
|
rs547236594
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2370C>T (p.Ile790=)
|
rs144693208
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2373G>A (p.Ala791=)
|
rs995214932
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2382G>A (p.Thr794=)
|
rs373048420
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2396A>G (p.His799Arg)
|
rs747912219
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2404A>G (p.Ile802Val)
|
rs1454445195
|
0.00001
|
|
NM_003072.5(SMARCA4):c.240T>C (p.His80=)
|
rs1440090886
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2412G>T (p.Gly804=)
|
rs748763687
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2418C>T (p.Phe806=)
|
rs770432256
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2424C>A (p.Ile808=)
|
rs1060504452
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2427C>T (p.Ile809=)
|
rs773895427
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2428G>A (p.Val810Met)
|
rs1060502056
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2438+16C>T
|
rs1181330286
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2438+4A>C
|
rs771818596
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2439-20T>A
|
rs766765378
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2439-7C>G
|
rs1299652683
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2442G>A (p.Thr814=)
|
rs759603031
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2456C>T (p.Ala819Val)
|
rs1276140261
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2463G>A (p.Glu821=)
|
rs375459615
|
0.00001
|
|
NM_003072.5(SMARCA4):c.246G>A (p.Lys82=)
|
rs878854209
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2481C>T (p.Pro827=)
|
rs1451565392
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2484C>T (p.Ser828=)
|
rs757282448
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2486T>C (p.Val829Ala)
|
rs1455752885
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2505+14A>G
|
rs779882147
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2505+4G>A
|
rs745383210
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2506-14T>C
|
rs751003991
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2506-14T>G
|
rs751003991
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2506-3C>T
|
rs1060502095
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2506-5T>C
|
rs749681016
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2511C>T (p.Ser837=)
|
rs1326477878
|
0.00001
|
|
NM_003072.5(SMARCA4):c.251T>C (p.Met84Thr)
|
rs998875986
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2524C>A (p.Arg842=)
|
rs1600257687
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2528C>T (p.Ala843Val)
|
rs1568482840
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2533G>A (p.Val845Ile)
|
rs878854210
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2541G>C (p.Gln847His)
|
rs1064796361
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2549G>T (p.Ser850Ile)
|
rs1394680906
|
0.00001
|
|
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu)
|
rs751542188
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2565C>T (p.Val855=)
|
rs775610559
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2577G>A (p.Thr859=)
|
rs768936814
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2589C>A (p.Ile863=)
|
rs761698481
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2610C>T (p.Leu870=)
|
rs1339020579
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2616+5C>T
|
rs763025766
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2616+6G>A
|
rs766415751
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2616+8G>A
|
rs751138896
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2617-12_2617-11del
|
rs778570983
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2617-8G>T
|
rs369658986
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2637T>C (p.Ile879=)
|
rs369795542
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2643C>T (p.Asp881=)
|
rs766701688
|
0.00001
|
|
NM_003072.5(SMARCA4):c.264G>A (p.Pro88=)
|
rs1445117849
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2652C>T (p.His884=)
|
rs559282159
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2661G>A (p.Lys887=)
|
rs1275075876
|
0.00001
|
|
NM_003072.5(SMARCA4):c.266G>A (p.Arg89His)
|
rs1599941069
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2697G>A (p.Thr899=)
|
rs373267815
|
0.00001
|
|
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His)
|
rs755987663
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2721G>A (p.Leu907=)
|
rs1279310975
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2727G>C (p.Leu909=)
|
rs1216679238
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2790C>T (p.Pro930=)
|
rs775427373
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2799C>T (p.Phe933=)
|
rs1170944294
|
0.00001
|
|
NM_003072.5(SMARCA4):c.27C>T (p.Gly9=)
|
rs372102929
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=)
|
rs767915497
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2859+12C>T
|
rs1214399950
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2859+3G>T
|
rs2089905213
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2895C>T (p.Ile965=)
|
rs1377235968
|
0.00001
|
|
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg)
|
rs140176945
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2925C>T (p.Phe975=)
|
rs376805784
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2949A>G (p.Glu983=)
|
rs749022426
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2961G>A (p.Gln987=)
|
rs2090030293
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2974-11G>C
|
rs901539613
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2974-12T>C
|
rs773398960
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2974-15A>G
|
rs765658699
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2974-18A>G
|
rs762421583
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2974-6C>T
|
rs1344336606
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2974-8C>G
|
rs762963492
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2974-9C>T
|
rs371801361
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2982C>T (p.Tyr994=)
|
rs751743675
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2988C>T (p.Ile996=)
|
rs754791499
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3005C>T (p.Ala1002Val)
|
rs1350288991
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3009G>T (p.Leu1003=)
|
rs767353166
|
0.00001
|
|
NM_003072.5(SMARCA4):c.302G>T (p.Gly101Val)
|
rs1555752083
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3048G>A (p.Val1016=)
|
rs878854212
|
0.00001
|
|
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)
|
rs746602808
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3081+5G>A
|
rs771818383
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3081+6C>T
|
rs1265734471
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg)
|
rs1288014090
|
0.00001
|
|
NM_003072.5(SMARCA4):c.308A>G (p.His103Arg)
|
rs770147215
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3090C>T (p.Gly1030=)
|
rs778603170
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3102C>G (p.Thr1034=)
|
rs758181694
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3165C>T (p.Ile1055=)
|
rs774483875
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3168+12G>A
|
rs376978510
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3168+16C>T
|
rs1170516474
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3168+18G>T
|
rs766088616
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3168+7C>G
|
rs1242730237
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3180C>T (p.Ser1060=)
|
rs765269922
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3192G>T (p.Gly1064=)
|
rs773244413
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3216-11C>T
|
rs566308079
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3216-3C>T
|
rs1310639053
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3216-5T>A
|
rs1555781739
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3216-8C>T
|
rs759031274
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3216-9A>C
|
rs1291643997
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3218T>A (p.Leu1073Gln)
|
rs767165458
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3263T>C (p.Ile1088Thr)
|
rs1363642477
|
0.00001
|
|
NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu)
|
rs763471007
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3274C>T (p.Leu1092Phe)
|
rs1292810203
|
0.00001
|
|
NM_003072.5(SMARCA4):c.327G>A (p.Pro109=)
|
rs1021947977
|
0.00001
|
|
NM_003072.5(SMARCA4):c.330C>T (p.Pro110=)
|
rs374224953
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3330C>T (p.Thr1110=)
|
rs758884930
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3342T>C (p.Asp1114=)
|
rs780550070
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3350C>T (p.Ala1117Val)
|
rs755069412
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3356G>A (p.Arg1119His)
|
rs370466670
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3357C>T (p.Arg1119=)
|
rs770111702
|
0.00001
|
|
NM_003072.5(SMARCA4):c.335C>T (p.Pro112Leu)
|
rs1057523400
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3363T>C (p.Phe1121=)
|
rs752360266
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3369C>T (p.Tyr1123=)
|
rs749098923
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3382+16T>A
|
rs774282470
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3383-3C>A
|
rs371558035
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=)
|
rs1060504446
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3409A>G (p.Met1137Val)
|
rs1194707294
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3423C>A (p.Thr1141=)
|
rs894097474
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3437G>A (p.Gly1146Asp)
|
rs566531015
|
0.00001
|
|
NM_003072.5(SMARCA4):c.344A>G (p.Gln115Arg)
|
rs1268937748
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3450C>T (p.Phe1150=)
|
rs2074875389
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3459G>A (p.Leu1153=)
|
rs1600365100
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3501G>A (p.Ser1167=)
|
rs201875199
|
0.00001
|
|
NM_003072.5(SMARCA4):c.350C>T (p.Ser117Phe)
|
rs759594383
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3510T>C (p.Thr1170=)
|
rs768162334
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3513G>C (p.Val1171=)
|
rs775981674
|
0.00001
|
|
NM_003072.5(SMARCA4):c.351C>G (p.Ser117=)
|
rs966478275
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3528C>T (p.Ser1176=)
|
rs573885719
|
0.00001
|
|
NM_003072.5(SMARCA4):c.353A>G (p.Gln118Arg)
|
rs1339250127
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3546+13C>T
|
rs760863360
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3546+8C>T
|
rs768145474
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3546+9G>A
|
rs544551192
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3547-3C>G
|
rs927543047
|
0.00001
|
|
NM_003072.5(SMARCA4):c.355+9C>T
|
rs767575401
|
0.00001
|
|
NM_003072.5(SMARCA4):c.356-4G>A
|
rs765828645
|
0.00001
|
|
NM_003072.5(SMARCA4):c.356-5T>C
|
rs758315191
|
0.00001
|
|
NM_003072.5(SMARCA4):c.356-6C>T
|
rs750328834
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3574C>T (p.Arg1192Cys)
|
rs1568509370
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3579C>T (p.Ile1193=)
|
rs200523111
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3582G>A (p.Gly1194=)
|
rs1353303245
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3591C>T (p.Asn1197=)
|
rs377275724
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3598C>T (p.Arg1200Cys)
|
rs1600389401
|
0.00001
|
|
NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu)
|
rs1201812441
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3612C>G (p.Leu1204=)
|
rs1555784509
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3618C>T (p.Thr1206=)
|
rs780618654
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3624C>T (p.Asn1208=)
|
rs1423663248
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3628G>A (p.Val1210Met)
|
rs1358760766
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3633G>A (p.Glu1211=)
|
rs776956288
|
0.00001
|
|
NM_003072.5(SMARCA4):c.363C>G (p.Pro121=)
|
rs1060504450
|
0.00001
|
|
NM_003072.5(SMARCA4):c.366G>A (p.Ser122=)
|
rs751116106
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3684G>A (p.Val1228=)
|
rs1427377014
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3693C>T (p.Ala1231=)
|
rs763218564
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3702C>T (p.Phe1234=)
|
rs751373738
|
0.00001
|
|
NM_003072.5(SMARCA4):c.371T>A (p.Leu124Gln)
|
rs754451765
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3734C>T (p.Ala1245Val)
|
rs797045984
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3741G>T (p.Leu1247=)
|
rs1290701081
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3750C>T (p.Ile1250=)
|
rs747426212
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3774G>A (p.Glu1258=)
|
rs1568510163
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3775-12A>G
|
rs770956288
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3795C>T (p.Gly1265=)
|
rs760491416
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3798C>T (p.Ser1266=)
|
rs878854215
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile)
|
rs587778685
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=)
|
rs776413354
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3873+10G>A
|
rs1326731274
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3874-18C>T
|
rs376294290
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3874-9A>G
|
rs1371357028
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3882C>T (p.Asp1294=)
|
rs750494195
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3904G>A (p.Val1302Ile)
|
rs1185321977
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3919G>A (p.Ala1307Thr)
|
rs1568512220
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3951+15C>T
|
rs2075122098
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3951+6C>T
|
rs759241380
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4008C>G (p.Arg1336=)
|
rs1467214059
|
0.00001
|
|
NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe)
|
rs1057520203
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4026G>A (p.Glu1342=)
|
rs1029640674
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val)
|
rs1221798183
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4054G>A (p.Ala1352Thr)
|
rs1228120902
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4056G>A (p.Ala1352=)
|
rs765686829
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4067G>A (p.Arg1356Gln)
|
rs1204091534
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4074C>T (p.Thr1358=)
|
rs1269190894
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4080G>A (p.Glu1360=)
|
rs1006792160
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4098G>A (p.Met1366Ile)
|
rs763586264
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4101C>T (p.Phe1367=)
|
rs772075876
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4106G>A (p.Arg1369His)
|
rs1388796557
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=)
|
rs780735376
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4140C>T (p.Ser1380=)
|
rs755059270
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=)
|
rs372620534
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4161G>A (p.Gln1387=)
|
rs139551264
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4170+15G>T
|
rs771614588
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4170+7G>C
|
rs529384250
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4170+8C>G
|
rs778760920
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4171-10G>A
|
rs1433600409
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4171-1814C>T
|
rs1362224320
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4171-1854T>C
|
rs1157173095
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4171-1864A>G
|
rs2075447807
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4171-7C>T
|
rs1451126803
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4176C>T (p.Ile1392=)
|
rs767494921
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4185C>T (p.Gly1395=)
|
rs889180299
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4187C>T (p.Thr1396Met)
|
rs1262500025
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4188G>A (p.Thr1396=)
|
rs199847974
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile)
|
rs1555788108
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4214G>A (p.Arg1405Gln)
|
rs1016382250
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4221G>T (p.Lys1407Asn)
|
rs1384070535
|
0.00001
|
|
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu)
|
rs1060502073
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4236G>A (p.Lys1412=)
|
rs370218941
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4237C>T (p.Arg1413Cys)
|
rs558017726
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4244G>A (p.Arg1415Gln)
|
rs878854225
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4251C>T (p.Ser1417=)
|
rs377057304
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4252G>A (p.Asp1418Asn)
|
rs761083981
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4262C>T (p.Ser1421Phe)
|
rs150958750
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)
|
rs1060502082
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4277C>T (p.Thr1426Ile)
|
rs1334955221
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4286G>A (p.Arg1429His)
|
rs1290442223
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys)
|
rs587778681
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His)
|
rs377573682
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4305C>T (p.Asp1435=)
|
rs771071300
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4306G>A (p.Glu1436Lys)
|
rs779143381
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4338G>A (p.Pro1446=)
|
rs768651929
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4347G>A (p.Glu1449=)
|
rs2075610605
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4354T>C (p.Ser1452Pro)
|
rs1267513562
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4428C>T (p.Ser1476=)
|
rs2076659206
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4434A>G (p.Gly1478=)
|
rs1060504444
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4436G>A (p.Arg1479His)
|
rs1057523566
|
0.00001
|
|
NM_003072.5(SMARCA4):c.443G>T (p.Gly148Val)
|
rs766946874
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4447G>A (p.Glu1483Lys)
|
rs1303255317
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4449G>A (p.Glu1483=)
|
rs776843815
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4485C>T (p.Pro1495=)
|
rs568946159
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4488G>A (p.Glu1496=)
|
rs751879908
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4497G>C (p.Glu1499Asp)
|
rs1264821826
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4515G>A (p.Val1505=)
|
rs201986470
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4533+13T>A
|
rs374656094
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4533+6C>A
|
rs1311909722
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4534-10T>C
|
rs2076690554
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4534-12C>T
|
rs763623884
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4546A>G (p.Asn1516Asp)
|
rs587778684
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4547A>G (p.Asn1516Ser)
|
rs767810437
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4554G>A (p.Lys1518=)
|
rs908851023
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4557C>T (p.Tyr1519=)
|
rs1321535007
|
0.00001
|
|
NM_003072.5(SMARCA4):c.455C>T (p.Ala152Val)
|
rs777272957
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4569C>T (p.Asn1523=)
|
rs34389675
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4581G>A (p.Lys1527=)
|
rs1367801613
|
0.00001
|
|
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)
|
rs539710314
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His)
|
rs1389184364
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4594C>T (p.Leu1532=)
|
rs778775484
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4608A>G (p.Ala1536=)
|
rs1198748479
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4635+15G>C
|
rs1214896429
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4635+19G>A
|
rs774679306
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4635+7G>A
|
rs1060504467
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4636-10C>G
|
rs878854228
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4636-20C>T
|
rs750380248
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4644A>G (p.Glu1548=)
|
rs1003149388
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu)
|
rs1057523990
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4677C>T (p.Ser1559=)
|
rs143683859
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4681C>T (p.Arg1561Trp)
|
rs749700321
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4693_4695del (p.Glu1565del)
|
rs1176307604
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4696A>G (p.Lys1566Glu)
|
rs1470609623
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4717G>A (p.Glu1573Lys)
|
rs775433905
|
0.00001
|
|
NM_003072.5(SMARCA4):c.472G>A (p.Asp158Asn)
|
rs1386092080
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4731G>A (p.Glu1577=)
|
rs1179573588
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4738G>C (p.Glu1580Gln)
|
rs1600644640
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4743C>T (p.Gly1581=)
|
rs759862377
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4744G>A (p.Glu1582Lys)
|
rs768899897
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4753G>T (p.Gly1585Cys)
|
rs2076756606
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4764C>T (p.Ser1588=)
|
rs754496173
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4768+12G>T
|
rs571251860
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4768+14G>A
|
rs1380997550
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4769-18C>T
|
rs772067768
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4769-4C>T
|
rs1452712657
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4769-8C>T
|
rs1161200824
|
0.00001
|
|
NM_003072.5(SMARCA4):c.476C>A (p.Pro159His)
|
rs747458180
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp)
|
rs1303089960
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4772G>A (p.Arg1591Gln)
|
rs1356932636
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4776C>T (p.Ser1592=)
|
rs1292187087
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4777G>A (p.Val1593Ile)
|
rs753578157
|
0.00001
|
|
NM_003072.5(SMARCA4):c.477C>T (p.Pro159=)
|
rs1245617538
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met)
|
rs1568565611
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4793A>G (p.Lys1598Arg)
|
rs1195158895
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4794G>A (p.Lys1598=)
|
rs372408986
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln)
|
rs1484835507
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4803G>A (p.Arg1601=)
|
rs1187484223
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4809G>A (p.Glu1603=)
|
rs1600648237
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4813G>A (p.Ala1605Thr)
|
rs141224876
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg)
|
rs878854231
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4822C>T (p.Arg1608Trp)
|
rs1568565786
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4837C>T (p.Arg1613Trp)
|
rs1370639203
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4843C>T (p.Arg1615Trp)
|
rs902428108
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4844G>A (p.Arg1615Gln)
|
rs1278313953
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4852C>A (p.Arg1618=)
|
rs1306144699
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4853G>A (p.Arg1618Gln)
|
rs1029465394
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4862G>A (p.Arg1621Gln)
|
rs964459864
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4865C>T (p.Ala1622Val)
|
rs1275554425
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu)
|
rs756255060
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn)
|
rs374648988
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4893T>C (p.Ser1631=)
|
rs1353388418
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4898A>G (p.Glu1633Gly)
|
rs1437896707
|
0.00001
|
|
NM_003072.5(SMARCA4):c.489G>A (p.Gly163=)
|
rs1201612670
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4907A>G (p.Glu1636Gly)
|
rs1233964657
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4909G>A (p.Glu1637Lys)
|
rs1298648044
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+16C>T
|
rs982106971
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+1G>A
|
rs1341783002
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+20C>T
|
rs1476216089
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+4A>G
|
rs371030397
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+5G>A
|
rs534705500
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+6G>C
|
rs878854235
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4912-4C>A
|
rs1555797433
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4914C>T (p.Asp1638=)
|
rs1555797441
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys)
|
rs776222414
|
0.00001
|
|
NM_003072.5(SMARCA4):c.495G>A (p.Gln165=)
|
rs768856451
|
0.00001
|
|
NM_003072.5(SMARCA4):c.499C>T (p.Arg167Trp)
|
rs11537673
|
0.00001
|
|
NM_003072.5(SMARCA4):c.500G>A (p.Arg167Gln)
|
rs748340475
|
0.00001
|
|
NM_003072.5(SMARCA4):c.505C>T (p.Pro169Ser)
|
rs142886157
|
0.00001
|
|
NM_003072.5(SMARCA4):c.513A>G (p.Pro171=)
|
rs770656118
|
0.00001
|
|
NM_003072.5(SMARCA4):c.51C>T (p.Ser17=)
|
rs1438233071
|
0.00001
|
|
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=)
|
rs529632222
|
0.00001
|
|
NM_003072.5(SMARCA4):c.579G>A (p.Gly193=)
|
rs752304124
|
0.00001
|
|
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val)
|
rs780497718
|
0.00001
|
|
NM_003072.5(SMARCA4):c.612G>A (p.Val204=)
|
rs1428709498
|
0.00001
|
|
NM_003072.5(SMARCA4):c.615G>A (p.Gln205=)
|
rs755490566
|
0.00001
|
|
NM_003072.5(SMARCA4):c.618C>T (p.Gly206=)
|
rs781758884
|
0.00001
|
|
NM_003072.5(SMARCA4):c.622C>T (p.Arg208Trp)
|
rs748298484
|
0.00001
|
|
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln)
|
rs769756381
|
0.00001
|
|
NM_003072.5(SMARCA4):c.627G>A (p.Pro209=)
|
rs1388204648
|
0.00001
|
|
NM_003072.5(SMARCA4):c.630G>T (p.Met210Ile)
|
rs1043452739
|
0.00001
|
|
NM_003072.5(SMARCA4):c.632C>T (p.Pro211Leu)
|
rs1046912361
|
0.00001
|
|
NM_003072.5(SMARCA4):c.633C>T (p.Pro211=)
|
rs770746055
|
0.00001
|
|
NM_003072.5(SMARCA4):c.648G>C (p.Gln216His)
|
rs878854236
|
0.00001
|
|
NM_003072.5(SMARCA4):c.650T>G (p.Met217Arg)
|
rs1060502066
|
0.00001
|
|
NM_003072.5(SMARCA4):c.657G>A (p.Thr219=)
|
rs1196005337
|
0.00001
|
|
NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu)
|
rs1227659334
|
0.00001
|
|
NM_003072.5(SMARCA4):c.664C>T (p.Pro222Ser)
|
rs1466661081
|
0.00001
|
|
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)
|
rs533671711
|
0.00001
|
|
NM_003072.5(SMARCA4):c.672G>A (p.Ser224=)
|
rs775288964
|
0.00001
|
|
NM_003072.5(SMARCA4):c.682A>G (p.Thr228Ala)
|
rs1021610405
|
0.00001
|
|
NM_003072.5(SMARCA4):c.688C>G (p.Pro230Ala)
|
rs760294422
|
0.00001
|
|
NM_003072.5(SMARCA4):c.691G>A (p.Gly231Ser)
|
rs555467836
|
0.00001
|
|
NM_003072.5(SMARCA4):c.69C>T (p.Ser23=)
|
rs772658698
|
0.00001
|
|
NM_003072.5(SMARCA4):c.702T>C (p.Pro234=)
|
rs1060504447
|
0.00001
|
|
NM_003072.5(SMARCA4):c.703G>A (p.Gly235Ser)
|
rs1219033025
|
0.00001
|
|
NM_003072.5(SMARCA4):c.705C>T (p.Gly235=)
|
rs1060504445
|
0.00001
|
|
NM_003072.5(SMARCA4):c.711C>T (p.Gly237=)
|
rs1380829783
|
0.00001
|
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
|
NM_003072.5(SMARCA4):c.737C>T (p.Pro246Leu)
|
rs1366344437
|
0.00001
|
|
NM_003072.5(SMARCA4):c.748A>G (p.Ser250Gly)
|
rs774511507
|
0.00001
|
|
NM_003072.5(SMARCA4):c.749G>C (p.Ser250Thr)
|
rs1257597317
|
0.00001
|
|
NM_003072.5(SMARCA4):c.755C>T (p.Pro252Leu)
|
rs1316419985
|
0.00001
|
|
NM_003072.5(SMARCA4):c.757C>T (p.His253Tyr)
|
rs1210836682
|
0.00001
|
|
NM_003072.5(SMARCA4):c.760+14C>T
|
rs1242354424
|
0.00001
|
|
NM_003072.5(SMARCA4):c.761-6A>T
|
rs772994811
|
0.00001
|
|
NM_003072.5(SMARCA4):c.761G>C (p.Gly254Ala)
|
rs767708564
|
0.00001
|
|
NM_003072.5(SMARCA4):c.763A>G (p.Met255Val)
|
rs754085815
|
0.00001
|
|
NM_003072.5(SMARCA4):c.768A>T (p.Gly256=)
|
rs1599957054
|
0.00001
|
|
NM_003072.5(SMARCA4):c.780G>C (p.Met260Ile)
|
rs753962571
|
0.00001
|
|
NM_003072.5(SMARCA4):c.788C>G (p.Pro263Arg)
|
rs1489647083
|
0.00001
|
|
NM_003072.5(SMARCA4):c.795C>T (p.Pro265=)
|
rs758191018
|
0.00001
|
|
NM_003072.5(SMARCA4):c.805C>T (p.Pro269Ser)
|
rs759641262
|
0.00001
|
|
NM_003072.5(SMARCA4):c.810C>T (p.Pro270=)
|
rs375413993
|
0.00001
|
|
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg)
|
rs769414440
|
0.00001
|
|
NM_003072.5(SMARCA4):c.817C>T (p.Pro273Ser)
|
rs1472583838
|
0.00001
|
|
NM_003072.5(SMARCA4):c.821G>A (p.Gly274Asp)
|
rs762655769
|
0.00001
|
|
NM_003072.5(SMARCA4):c.828T>A (p.Pro276=)
|
rs1057523267
|
0.00001
|
|
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)
|
rs767947665
|
0.00001
|
|
NM_003072.5(SMARCA4):c.847C>T (p.Pro283Ser)
|
rs775769095
|
0.00001
|
|
NM_003072.5(SMARCA4):c.860-18C>T
|
rs1179499482
|
0.00001
|
|
NM_003072.5(SMARCA4):c.860-19_860-18insT
|
rs768447526
|
0.00001
|
|
NM_003072.5(SMARCA4):c.865A>G (p.Met289Val)
|
rs750547893
|
0.00001
|
|
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val)
|
rs763054014
|
0.00001
|
|
NM_003072.5(SMARCA4):c.870G>A (p.Ala290=)
|
rs766575229
|
0.00001
|
|
NM_003072.5(SMARCA4):c.872A>T (p.Asn291Ile)
|
rs751791309
|
0.00001
|
|
NM_003072.5(SMARCA4):c.890G>A (p.Ser297Asn)
|
rs756170542
|
0.00001
|
|
NM_003072.5(SMARCA4):c.893C>A (p.Thr298Asn)
|
rs748459210
|
0.00001
|
|
NM_003072.5(SMARCA4):c.908T>C (p.Ile303Thr)
|
rs778446601
|
0.00001
|
|
NM_003072.5(SMARCA4):c.912C>T (p.Pro304=)
|
rs979977924
|
0.00001
|
|
NM_003072.5(SMARCA4):c.925G>A (p.Gly309Ser)
|
rs773701962
|
0.00001
|
|
NM_003072.5(SMARCA4):c.925G>C (p.Gly309Arg)
|
rs773701962
|
0.00001
|
|
NM_003072.5(SMARCA4):c.926G>T (p.Gly309Val)
|
rs762999710
|
0.00001
|
|
NM_003072.5(SMARCA4):c.941C>T (p.Ala314Val)
|
rs549254467
|
0.00001
|
|
NM_003072.5(SMARCA4):c.947C>T (p.Pro316Leu)
|
rs878854245
|
0.00001
|
|
NM_003072.5(SMARCA4):c.948T>G (p.Pro316=)
|
rs1599968129
|
0.00001
|
|
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser)
|
rs1304026031
|
0.00001
|
|
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile)
|
rs758091260
|
0.00001
|
|
NM_003072.5(SMARCA4):c.958C>T (p.Pro320Ser)
|
rs1460796481
|
0.00001
|
|
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu)
|
rs910095001
|
0.00001
|
|
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr)
|
rs1344296942
|
0.00001
|
|
NM_003072.5(SMARCA4):c.963C>T (p.Ala321=)
|
rs371214843
|
0.00001
|
|
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
|
NM_003072.5(SMARCA4):c.975G>A (p.Val325=)
|
rs375764300
|
0.00001
|
|
NM_003072.5(SMARCA4):c.979C>A (p.Pro327Thr)
|
rs770946823
|
0.00001
|
|
NM_003072.5(SMARCA4):c.97G>C (p.Gly33Arg)
|
rs1060502096
|
0.00001
|
|
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu)
|
rs370097699
|
0.00001
|
|
NM_003072.5(SMARCA4):c.984G>A (p.Pro328=)
|
rs571366505
|
0.00001
|
|
NM_003072.5(SMARCA4):c.993G>T (p.Gln331His)
|
rs1599969549
|
0.00001
|
|
NM_003073.5(SMARCB1):c.*279G>A
|
rs886057287
|
0.00001
|
|
NM_003073.5(SMARCB1):c.-83C>T
|
rs1374186002
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1115C>T (p.Thr372Met)
|
rs992198711
|
0.00001
|
|
NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr)
|
rs371477865
|
0.00001
|
|
NM_003073.5(SMARCB1):c.500+6G>C
|
rs772329556
|
0.00001
|
|
NM_003073.5(SMARCB1):c.628+4C>T
|
rs373375336
|
0.00001
|
|
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met)
|
rs776693680
|
0.00001
|
|
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys)
|
rs1368176286
|
0.00001
|
|
NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val)
|
rs887245809
|
0.00001
|
|
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln)
|
rs2030327999
|
0.00001
|
|
NM_003506.4(FZD6):c.346C>T (p.Arg116Ter)
|
rs769116796
|
0.00001
|
|
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
|
rs187183483
|
0.00001
|
|
NM_003640.5(ELP1):c.1072C>T (p.Arg358Trp)
|
rs750718439
|
0.00001
|
|
NM_003640.5(ELP1):c.1190-4G>A
|
rs774965847
|
0.00001
|
|
NM_003640.5(ELP1):c.1191C>G (p.Asn397Lys)
|
rs749277039
|
0.00001
|
|
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu)
|
rs375957332
|
0.00001
|
|
NM_003640.5(ELP1):c.1244C>T (p.Thr415Ile)
|
rs756192004
|
0.00001
|
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951
|
0.00001
|
|
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)
|
rs773228197
|
0.00001
|
|
NM_003640.5(ELP1):c.1361-1G>T
|
rs372225464
|
0.00001
|
|
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys)
|
rs764155403
|
0.00001
|
|
NM_003640.5(ELP1):c.1461-1G>A
|
rs539544212
|
0.00001
|
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
|
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg)
|
rs886063347
|
0.00001
|
|
NM_003640.5(ELP1):c.1909-17C>G
|
rs373498962
|
0.00001
|
|
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)
|
rs762636526
|
0.00001
|
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949
|
0.00001
|
|
NM_003640.5(ELP1):c.2014+18A>G
|
rs1828800296
|
0.00001
|
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
0.00001
|
|
NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe)
|
rs1828702034
|
0.00001
|
|
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
|
rs374558203
|
0.00001
|
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233
|
0.00001
|
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264
|
0.00001
|
|
NM_003640.5(ELP1):c.2460C>T (p.Cys820=)
|
rs181121832
|
0.00001
|
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151
|
0.00001
|
|
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val)
|
rs779097269
|
0.00001
|
|
NM_003640.5(ELP1):c.2547A>G (p.Pro849=)
|
rs764837607
|
0.00001
|
|
NM_003640.5(ELP1):c.2693A>G (p.Tyr898Cys)
|
rs199679232
|
0.00001
|
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635
|
0.00001
|
|
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)
|
rs751179612
|
0.00001
|
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807
|
0.00001
|
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
|
NM_003640.5(ELP1):c.2847C>T (p.His949=)
|
rs529456133
|
0.00001
|
|
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)
|
rs1435854424
|
0.00001
|
|
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg)
|
rs371186754
|
0.00001
|
|
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)
|
rs763981711
|
0.00001
|
|
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)
|
rs770540843
|
0.00001
|
|
NM_003640.5(ELP1):c.3094C>T (p.Leu1032Phe)
|
rs774427341
|
0.00001
|
|
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)
|
rs112178985
|
0.00001
|
|
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)
|
rs761896714
|
0.00001
|
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
0.00001
|
|
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995
|
0.00001
|
|
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)
|
rs762224071
|
0.00001
|
|
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)
|
rs201242444
|
0.00001
|
|
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
|
rs199813856
|
0.00001
|
|
NM_003640.5(ELP1):c.3855+18C>T
|
rs557015443
|
0.00001
|
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
|
NM_003640.5(ELP1):c.424C>T (p.Pro142Ser)
|
rs370034421
|
0.00001
|
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
0.00001
|
|
NM_003640.5(ELP1):c.707_711dup (p.Ala238fs)
|
rs1390547777
|
0.00001
|
|
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)
|
rs1317221906
|
0.00001
|
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00001
|
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000
|
0.00001
|
|
NM_003640.5(ELP1):c.888A>G (p.Ala296=)
|
rs371923882
|
0.00001
|
|
NM_003640.5(ELP1):c.93G>T (p.Gly31=)
|
rs778404648
|
0.00001
|
|
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
|
NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys)
|
rs779024571
|
0.00001
|
|
NM_003738.5(PTCH2):c.2812G>A (p.Gly938Ser)
|
rs746898559
|
0.00001
|
|
NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu)
|
rs777389212
|
0.00001
|
|
NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr)
|
rs900911841
|
0.00001
|
|
NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp)
|
rs777212373
|
0.00001
|
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
0.00001
|
|
NM_003924.3(PHOX2B):c.-210C>A
|
rs886059414
|
0.00001
|
|
NM_003924.4(PHOX2B):c.*1401C>G
|
rs781647693
|
0.00001
|
|
NM_003924.4(PHOX2B):c.*1644A>T
|
rs886059410
|
0.00001
|
|
NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)
|
rs1397909726
|
0.00001
|
|
NM_003924.4(PHOX2B):c.275T>C (p.Leu92Pro)
|
rs1477680896
|
0.00001
|
|
NM_003924.4(PHOX2B):c.279C>G (p.Asn93Lys)
|
rs1459081022
|
0.00001
|
|
NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)
|
rs774521395
|
0.00001
|
|
NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del)
|
rs1233756366
|
0.00001
|
|
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)
|
rs1060501118
|
0.00001
|
|
NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)
|
rs1060501124
|
0.00001
|
|
NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr)
|
rs1010753155
|
0.00001
|
|
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)
|
rs587778607
|
0.00001
|
|
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)
|
rs769663483
|
0.00001
|
|
NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp)
|
rs1352110516
|
0.00001
|
|
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)
|
rs762234006
|
0.00001
|
|
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)
|
rs1733865595
|
0.00001
|
|
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg)
|
rs763114749
|
0.00001
|
|
NM_004304.5(ALK):c.-128A>G
|
rs1246468331
|
0.00001
|
|
NM_004304.5(ALK):c.-276G>A
|
rs886055935
|
0.00001
|
|
NM_004304.5(ALK):c.-403G>A
|
rs572286447
|
0.00001
|
|
NM_004304.5(ALK):c.-699A>G
|
rs943046273
|
0.00001
|
|
NM_004304.5(ALK):c.1007C>T (p.Pro336Leu)
|
rs1450440625
|
0.00001
|
|
NM_004304.5(ALK):c.1024A>C (p.Ser342Arg)
|
rs973756393
|
0.00001
|
|
NM_004304.5(ALK):c.102G>A (p.Ala34=)
|
rs561278614
|
0.00001
|
|
NM_004304.5(ALK):c.1043C>A (p.Ala348Asp)
|
rs760596486
|
0.00001
|
|
NM_004304.5(ALK):c.104G>A (p.Gly35Glu)
|
rs766479433
|
0.00001
|
|
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)
|
rs773367495
|
0.00001
|
|
NM_004304.5(ALK):c.107C>T (p.Pro36Leu)
|
rs773691688
|
0.00001
|
|
NM_004304.5(ALK):c.1083C>T (p.Tyr361=)
|
rs146261919
|
0.00001
|
|
NM_004304.5(ALK):c.1096C>T (p.Leu366=)
|
rs1450281991
|
0.00001
|
|
NM_004304.5(ALK):c.110C>T (p.Pro37Leu)
|
rs1437432300
|
0.00001
|
|
NM_004304.5(ALK):c.1114G>A (p.Ala372Thr)
|
rs753549939
|
0.00001
|
|
NM_004304.5(ALK):c.1118G>T (p.Arg373Ile)
|
rs1318677209
|
0.00001
|
|
NM_004304.5(ALK):c.1127T>C (p.Leu376Pro)
|
rs966612700
|
0.00001
|
|
NM_004304.5(ALK):c.1133T>C (p.Met378Thr)
|
rs1178669386
|
0.00001
|
|
NM_004304.5(ALK):c.1134G>A (p.Met378Ile)
|
rs989538225
|
0.00001
|
|
NM_004304.5(ALK):c.1150C>T (p.His384Tyr)
|
rs1243305009
|
0.00001
|
|
NM_004304.5(ALK):c.1154+11C>T
|
rs1673128789
|
0.00001
|
|
NM_004304.5(ALK):c.1154+16T>C
|
rs1001922228
|
0.00001
|
|
NM_004304.5(ALK):c.1155-11A>G
|
rs1338300871
|
0.00001
|
|
NM_004304.5(ALK):c.1155-12C>T
|
rs956099492
|
0.00001
|
|
NM_004304.5(ALK):c.1155T>C (p.Gly385=)
|
rs369505500
|
0.00001
|
|
NM_004304.5(ALK):c.117G>A (p.Gln39=)
|
rs1225169683
|
0.00001
|
|
NM_004304.5(ALK):c.1180G>A (p.Gly394Arg)
|
rs775514690
|
0.00001
|
|
NM_004304.5(ALK):c.1188A>G (p.Pro396=)
|
rs1412095749
|
0.00001
|
|
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)
|
rs754512910
|
0.00001
|
|
NM_004304.5(ALK):c.1209C>T (p.Ala403=)
|
rs1219558254
|
0.00001
|
|
NM_004304.5(ALK):c.1215A>T (p.Glu405Asp)
|
rs370235133
|
0.00001
|
|
NM_004304.5(ALK):c.1219A>C (p.Ile407Leu)
|
rs765139446
|
0.00001
|
|
NM_004304.5(ALK):c.1228G>A (p.Gly410Arg)
|
rs764207516
|
0.00001
|
|
NM_004304.5(ALK):c.122G>A (p.Arg41Gln)
|
rs1572503919
|
0.00001
|
|
NM_004304.5(ALK):c.1237A>G (p.Ser413Gly)
|
rs1477421090
|
0.00001
|
|
NM_004304.5(ALK):c.1246G>T (p.Ala416Ser)
|
rs775917326
|
0.00001
|
|
NM_004304.5(ALK):c.1249G>C (p.Val417Leu)
|
rs886055931
|
0.00001
|
|
NM_004304.5(ALK):c.1254C>T (p.Asp418=)
|
rs1668962410
|
0.00001
|
|
NM_004304.5(ALK):c.1269G>C (p.Lys423Asn)
|
rs1370402590
|
0.00001
|
|
NM_004304.5(ALK):c.1286C>T (p.Thr429Ile)
|
rs775129242
|
0.00001
|
|
NM_004304.5(ALK):c.128C>G (p.Pro43Arg)
|
rs78378278
|
0.00001
|
|
NM_004304.5(ALK):c.1306G>C (p.Ala436Pro)
|
rs745772939
|
0.00001
|
|
NM_004304.5(ALK):c.1311G>A (p.Leu437=)
|
rs757241673
|
0.00001
|
|
NM_004304.5(ALK):c.1317C>T (p.Ser439=)
|
rs748996936
|
0.00001
|
|
NM_004304.5(ALK):c.131T>G (p.Leu44Arg)
|
rs1304641292
|
0.00001
|
|
NM_004304.5(ALK):c.1344C>G (p.Val448=)
|
rs896199996
|
0.00001
|
|
NM_004304.5(ALK):c.1356G>A (p.Gly452=)
|
rs767578442
|
0.00001
|
|
NM_004304.5(ALK):c.1374C>T (p.His458=)
|
rs763543532
|
0.00001
|
|
NM_004304.5(ALK):c.1379A>G (p.Asp460Gly)
|
rs149198543
|
0.00001
|
|
NM_004304.5(ALK):c.1391G>T (p.Gly464Val)
|
rs771689864
|
0.00001
|
|
NM_004304.5(ALK):c.1392A>G (p.Gly464=)
|
rs745322358
|
0.00001
|
|
NM_004304.5(ALK):c.1407G>A (p.Gln469=)
|
rs538554121
|
0.00001
|
|
NM_004304.5(ALK):c.140C>T (p.Ser47Leu)
|
rs541315214
|
0.00001
|
|
NM_004304.5(ALK):c.1414+12G>A
|
rs1473086953
|
0.00001
|
|
NM_004304.5(ALK):c.1414+1G>A
|
rs777414641
|
0.00001
|
|
NM_004304.5(ALK):c.1415-10C>G
|
rs1330820854
|
0.00001
|
|
NM_004304.5(ALK):c.1415-3T>C
|
rs747885672
|
0.00001
|
|
NM_004304.5(ALK):c.1415-5C>T
|
rs957699962
|
0.00001
|
|
NM_004304.5(ALK):c.1418A>T (p.Lys473Ile)
|
rs768799403
|
0.00001
|
|
NM_004304.5(ALK):c.1492A>T (p.Thr498Ser)
|
rs1667013379
|
0.00001
|
|
NM_004304.5(ALK):c.149A>G (p.Gln50Arg)
|
rs1060500222
|
0.00001
|
|
NM_004304.5(ALK):c.1516C>G (p.Leu506Val)
|
rs765773161
|
0.00001
|
|
NM_004304.5(ALK):c.1523A>T (p.Asp508Val)
|
rs995433670
|
0.00001
|
|
NM_004304.5(ALK):c.153G>A (p.Arg51=)
|
rs200204526
|
0.00001
|
|
NM_004304.5(ALK):c.1546+17G>A
|
rs373690440
|
0.00001
|
|
NM_004304.5(ALK):c.1547-6T>G
|
rs1249683834
|
0.00001
|
|
NM_004304.5(ALK):c.1547A>G (p.Asp516Gly)
|
rs761724656
|
0.00001
|
|
NM_004304.5(ALK):c.1551T>C (p.His517=)
|
rs763856615
|
0.00001
|
|
NM_004304.5(ALK):c.1554T>C (p.Ala518=)
|
rs376644900
|
0.00001
|
|
NM_004304.5(ALK):c.1563C>T (p.Leu521=)
|
rs79904886
|
0.00001
|
|
NM_004304.5(ALK):c.1566T>C (p.Ser522=)
|
rs774478966
|
0.00001
|
|
NM_004304.5(ALK):c.1576G>A (p.Val526Ile)
|
rs749779880
|
0.00001
|
|
NM_004304.5(ALK):c.158G>A (p.Ser53Asn)
|
rs754798392
|
0.00001
|
|
NM_004304.5(ALK):c.1593T>C (p.Ser531=)
|
rs763979460
|
0.00001
|
|
NM_004304.5(ALK):c.1599A>G (p.Thr533=)
|
rs1334495224
|
0.00001
|
|
NM_004304.5(ALK):c.1613C>T (p.Thr538Met)
|
rs775302364
|
0.00001
|
|
NM_004304.5(ALK):c.1623A>G (p.Ala541=)
|
rs948499342
|
0.00001
|
|
NM_004304.5(ALK):c.1625C>T (p.Pro542Leu)
|
rs372456536
|
0.00001
|
|
NM_004304.5(ALK):c.1634G>A (p.Ser545Asn)
|
rs147033307
|
0.00001
|
|
NM_004304.5(ALK):c.1648-9C>A
|
rs763269771
|
0.00001
|
|
NM_004304.5(ALK):c.1651C>T (p.Arg551Ter)
|
rs1172956542
|
0.00001
|
|
NM_004304.5(ALK):c.1656G>A (p.Met552Ile)
|
rs1205245551
|
0.00001
|
|
NM_004304.5(ALK):c.1669C>T (p.Arg557Cys)
|
rs200364883
|
0.00001
|
|
NM_004304.5(ALK):c.1680G>A (p.Leu560=)
|
rs1253378000
|
0.00001
|
|
NM_004304.5(ALK):c.171C>T (p.Asp57=)
|
rs138165457
|
0.00001
|
|
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)
|
rs762358335
|
0.00001
|
|
NM_004304.5(ALK):c.1725G>C (p.Lys575Asn)
|
rs1010580453
|
0.00001
|
|
NM_004304.5(ALK):c.1726G>T (p.Glu576Ter)
|
rs750740789
|
0.00001
|
|
NM_004304.5(ALK):c.1729C>A (p.Gln577Lys)
|
rs1430381834
|
0.00001
|
|
NM_004304.5(ALK):c.1740G>A (p.Met580Ile)
|
rs1460645072
|
0.00001
|
|
NM_004304.5(ALK):c.1749T>A (p.His583Gln)
|
rs761184891
|
0.00001
|
|
NM_004304.5(ALK):c.1753G>A (p.Ala585Thr)
|
rs772496459
|
0.00001
|
|
NM_004304.5(ALK):c.1756G>A (p.Ala586Thr)
|
rs75158395
|
0.00001
|
|
NM_004304.5(ALK):c.1766G>A (p.Gly589Asp)
|
rs769505453
|
0.00001
|
|
NM_004304.5(ALK):c.1788G>A (p.Met596Ile)
|
rs1273699854
|
0.00001
|
|
NM_004304.5(ALK):c.1800C>T (p.Leu600=)
|
rs779990542
|
0.00001
|
|
NM_004304.5(ALK):c.1803C>T (p.Leu601=)
|
rs769055778
|
0.00001
|
|
NM_004304.5(ALK):c.1803del (p.Asp602fs)
|
rs926903893
|
0.00001
|
|
NM_004304.5(ALK):c.1804G>A (p.Asp602Asn)
|
rs1165866210
|
0.00001
|
|
NM_004304.5(ALK):c.1817+19C>T
|
rs1666197923
|
0.00001
|
|
NM_004304.5(ALK):c.1833G>A (p.Met611Ile)
|
rs1302907379
|
0.00001
|
|
NM_004304.5(ALK):c.1836C>T (p.Val612=)
|
rs752799164
|
0.00001
|
|
NM_004304.5(ALK):c.1839A>G (p.Ala613=)
|
rs143141901
|
0.00001
|
|
NM_004304.5(ALK):c.1851A>G (p.Gln617=)
|
rs201268211
|
0.00001
|
|
NM_004304.5(ALK):c.1867G>A (p.Val623Met)
|
rs768256091
|
0.00001
|
|
NM_004304.5(ALK):c.1882A>G (p.Ile628Val)
|
rs775145742
|
0.00001
|
|
NM_004304.5(ALK):c.1908C>G (p.Leu636=)
|
rs1268649558
|
0.00001
|
|
NM_004304.5(ALK):c.1912+1G>A
|
rs1430369916
|
0.00001
|
|
NM_004304.5(ALK):c.1913-17G>T
|
rs763798074
|
0.00001
|
|
NM_004304.5(ALK):c.1913-3C>T
|
rs1209588035
|
0.00001
|
|
NM_004304.5(ALK):c.1913-7A>G
|
rs1379154467
|
0.00001
|
|
NM_004304.5(ALK):c.1915A>G (p.Ser639Gly)
|
rs1573183673
|
0.00001
|
|
NM_004304.5(ALK):c.1917C>T (p.Ser639=)
|
rs56249474
|
0.00001
|
|
NM_004304.5(ALK):c.192C>T (p.Phe64=)
|
rs376663390
|
0.00001
|
|
NM_004304.5(ALK):c.1941T>C (p.Asn647=)
|
rs777545745
|
0.00001
|
|
NM_004304.5(ALK):c.1948C>A (p.Pro650Thr)
|
rs1178904580
|
0.00001
|
|
NM_004304.5(ALK):c.1962C>A (p.Asn654Lys)
|
rs755124993
|
0.00001
|
|
NM_004304.5(ALK):c.1963C>T (p.Leu655=)
|
rs572963793
|
0.00001
|
|
NM_004304.5(ALK):c.1978C>G (p.Pro660Ala)
|
rs1321508395
|
0.00001
|
|
NM_004304.5(ALK):c.1998C>T (p.Pro666=)
|
rs549825750
|
0.00001
|
|
NM_004304.5(ALK):c.2012C>T (p.Pro671Leu)
|
rs767998637
|
0.00001
|
|
NM_004304.5(ALK):c.2023C>T (p.Pro675Ser)
|
rs1469128263
|
0.00001
|
|
NM_004304.5(ALK):c.202G>T (p.Ala68Ser)
|
rs1414978905
|
0.00001
|
|
NM_004304.5(ALK):c.2040A>G (p.Thr680=)
|
rs748335936
|
0.00001
|
|
NM_004304.5(ALK):c.2041+13C>G
|
rs1293978616
|
0.00001
|
|
NM_004304.5(ALK):c.2041+4A>G
|
rs1172214438
|
0.00001
|
|
NM_004304.5(ALK):c.2041+5G>A
|
rs1060500232
|
0.00001
|
|
NM_004304.5(ALK):c.2042-20C>A
|
rs773170319
|
0.00001
|
|
NM_004304.5(ALK):c.2050C>G (p.Leu684Val)
|
rs1664810025
|
0.00001
|
|
NM_004304.5(ALK):c.2059A>G (p.Thr687Ala)
|
rs1465724413
|
0.00001
|
|
NM_004304.5(ALK):c.2068G>T (p.Ala690Ser)
|
rs375105843
|
0.00001
|
|
NM_004304.5(ALK):c.2074G>A (p.Gly692Arg)
|
rs373846404
|
0.00001
|
|
NM_004304.5(ALK):c.2077C>A (p.Pro693Thr)
|
rs1026390293
|
0.00001
|
|
NM_004304.5(ALK):c.208G>A (p.Asp70Asn)
|
rs1365620880
|
0.00001
|
|
NM_004304.5(ALK):c.2094G>A (p.Gln698=)
|
rs1060503881
|
0.00001
|
|
NM_004304.5(ALK):c.2100G>A (p.Gln700=)
|
rs757872815
|
0.00001
|
|
NM_004304.5(ALK):c.2110G>A (p.Ala704Thr)
|
rs34829159
|
0.00001
|
|
NM_004304.5(ALK):c.2130G>A (p.Leu710=)
|
rs370001834
|
0.00001
|
|
NM_004304.5(ALK):c.2131A>C (p.Ser711Arg)
|
rs1166188112
|
0.00001
|
|
NM_004304.5(ALK):c.2134G>A (p.Val712Met)
|
rs78723472
|
0.00001
|
|
NM_004304.5(ALK):c.213A>G (p.Leu71=)
|
rs774033636
|
0.00001
|
|
NM_004304.5(ALK):c.2144G>A (p.Gly715Glu)
|
rs763862465
|
0.00001
|
|
NM_004304.5(ALK):c.2168T>C (p.Ile723Thr)
|
rs1664804969
|
0.00001
|
|
NM_004304.5(ALK):c.2204+5G>A
|
rs367892725
|
0.00001
|
|
NM_004304.5(ALK):c.2205-19G>T
|
rs757410904
|
0.00001
|
|
NM_004304.5(ALK):c.2218G>A (p.Gly740Arg)
|
rs766541301
|
0.00001
|
|
NM_004304.5(ALK):c.221C>T (p.Pro74Leu)
|
rs1187464179
|
0.00001
|
|
NM_004304.5(ALK):c.2241G>A (p.Gly747=)
|
rs1287951823
|
0.00001
|
|
NM_004304.5(ALK):c.2243A>C (p.Lys748Thr)
|
rs1558633442
|
0.00001
|
|
NM_004304.5(ALK):c.2257C>A (p.Arg753=)
|
rs745499366
|
0.00001
|
|
NM_004304.5(ALK):c.2264A>T (p.His755Leu)
|
rs375480327
|
0.00001
|
|
NM_004304.5(ALK):c.2269G>A (p.Val757Met)
|
rs371005946
|
0.00001
|
|
NM_004304.5(ALK):c.22T>C (p.Trp8Arg)
|
rs1222954765
|
0.00001
|
|
NM_004304.5(ALK):c.2302G>A (p.Asp768Asn)
|
rs766666105
|
0.00001
|
|
NM_004304.5(ALK):c.2304T>C (p.Asp768=)
|
rs758649392
|
0.00001
|
|
NM_004304.5(ALK):c.2328G>A (p.Gly776=)
|
rs764607514
|
0.00001
|
|
NM_004304.5(ALK):c.2330A>C (p.Gln777Pro)
|
rs1448527132
|
0.00001
|
|
NM_004304.5(ALK):c.234G>A (p.Ser78=)
|
rs1338599727
|
0.00001
|
|
NM_004304.5(ALK):c.2354G>A (p.Ser785Asn)
|
rs1441640593
|
0.00001
|
|
NM_004304.5(ALK):c.2356-19G>A
|
rs745673569
|
0.00001
|
|
NM_004304.5(ALK):c.2373G>C (p.Gln791His)
|
rs1344236918
|
0.00001
|
|
NM_004304.5(ALK):c.2418T>C (p.Arg806=)
|
rs776266666
|
0.00001
|
|
NM_004304.5(ALK):c.2431G>A (p.Val811Met)
|
rs771935814
|
0.00001
|
|
NM_004304.5(ALK):c.244G>A (p.Ala82Thr)
|
rs1322397265
|
0.00001
|
|
NM_004304.5(ALK):c.2457A>G (p.Gly819=)
|
rs147842434
|
0.00001
|
|
NM_004304.5(ALK):c.2463G>A (p.Gly821=)
|
rs371626235
|
0.00001
|
|
NM_004304.5(ALK):c.2480T>C (p.Val827Ala)
|
rs753584062
|
0.00001
|
|
NM_004304.5(ALK):c.2487+4T>C
|
rs368430854
|
0.00001
|
|
NM_004304.5(ALK):c.2488A>T (p.Met830Leu)
|
rs780536554
|
0.00001
|
|
NM_004304.5(ALK):c.24G>T (p.Trp8Cys)
|
rs749905243
|
0.00001
|
|
NM_004304.5(ALK):c.2503C>T (p.Pro835Ser)
|
rs763771560
|
0.00001
|
|
NM_004304.5(ALK):c.2519T>C (p.Ile840Thr)
|
rs774200047
|
0.00001
|
|
NM_004304.5(ALK):c.2527G>A (p.Gly843Arg)
|
rs748379491
|
0.00001
|
|
NM_004304.5(ALK):c.254C>T (p.Pro85Leu)
|
rs748100651
|
0.00001
|
|
NM_004304.5(ALK):c.2560G>A (p.Asp854Asn)
|
rs189078025
|
0.00001
|
|
NM_004304.5(ALK):c.2579G>T (p.Arg860Ile)
|
rs1194282326
|
0.00001
|
|
NM_004304.5(ALK):c.2583G>A (p.Leu861=)
|
rs201079493
|
0.00001
|
|
NM_004304.5(ALK):c.2584G>A (p.Glu862Lys)
|
rs1461504517
|
0.00001
|
|
NM_004304.5(ALK):c.2597C>T (p.Ser866Leu)
|
rs528844155
|
0.00001
|
|
NM_004304.5(ALK):c.2603T>A (p.Leu868Gln)
|
rs55941323
|
0.00001
|
|
NM_004304.5(ALK):c.2609T>C (p.Leu870Pro)
|
rs1279549141
|
0.00001
|
|
NM_004304.5(ALK):c.2614G>A (p.Gly872Ser)
|
rs1343280200
|
0.00001
|
|
NM_004304.5(ALK):c.2624G>A (p.Gly875Glu)
|
rs374375387
|
0.00001
|
|
NM_004304.5(ALK):c.2629G>A (p.Ala877Thr)
|
rs746442213
|
0.00001
|
|
NM_004304.5(ALK):c.262C>A (p.Arg88Ser)
|
rs754768477
|
0.00001
|
|
NM_004304.5(ALK):c.2633-17C>T
|
rs771497081
|
0.00001
|
|
NM_004304.5(ALK):c.2633-5C>G
|
rs773644242
|
0.00001
|
|
NM_004304.5(ALK):c.2633-6C>T
|
rs577768628
|
0.00001
|
|
NM_004304.5(ALK):c.2653G>A (p.Asp885Asn)
|
rs925802421
|
0.00001
|
|
NM_004304.5(ALK):c.2657A>T (p.Asn886Ile)
|
rs1452092742
|
0.00001
|
|
NM_004304.5(ALK):c.2666T>C (p.Leu889Ser)
|
rs1203845715
|
0.00001
|
|
NM_004304.5(ALK):c.2677G>A (p.Gly893Arg)
|
rs764014697
|
0.00001
|
|
NM_004304.5(ALK):c.2704G>A (p.Gly902Arg)
|
rs774488715
|
0.00001
|
|
NM_004304.5(ALK):c.2710C>T (p.His904Tyr)
|
rs1474942302
|
0.00001
|
|
NM_004304.5(ALK):c.2718C>T (p.Cys906=)
|
rs763576249
|
0.00001
|
|
NM_004304.5(ALK):c.2723A>G (p.Gln908Arg)
|
rs1573134667
|
0.00001
|
|
NM_004304.5(ALK):c.2727C>T (p.Ala909=)
|
rs1236590521
|
0.00001
|
|
NM_004304.5(ALK):c.2736G>A (p.Lys912=)
|
rs1489025810
|
0.00001
|
|
NM_004304.5(ALK):c.2740G>A (p.Gly914Arg)
|
rs1220052371
|
0.00001
|
|
NM_004304.5(ALK):c.2776G>A (p.Gly926Arg)
|
rs1664097034
|
0.00001
|
|
NM_004304.5(ALK):c.2781G>T (p.Gly927=)
|
rs1264537420
|
0.00001
|
|
NM_004304.5(ALK):c.2789C>T (p.Ser930Leu)
|
rs767777102
|
0.00001
|
|
NM_004304.5(ALK):c.279G>A (p.Leu93=)
|
rs1186319001
|
0.00001
|
|
NM_004304.5(ALK):c.2803G>A (p.Gly935Arg)
|
rs766551269
|
0.00001
|
|
NM_004304.5(ALK):c.2815+16G>A
|
rs368572534
|
0.00001
|
|
NM_004304.5(ALK):c.2816-5C>T
|
rs532808222
|
0.00001
|
|
NM_004304.5(ALK):c.2816-9G>A
|
rs200463420
|
0.00001
|
|
NM_004304.5(ALK):c.2822A>G (p.Asn941Ser)
|
rs368654781
|
0.00001
|
|
NM_004304.5(ALK):c.2893C>T (p.Leu965=)
|
rs1458969615
|
0.00001
|
|
NM_004304.5(ALK):c.289C>T (p.Pro97Ser)
|
rs1331610896
|
0.00001
|
|
NM_004304.5(ALK):c.2900C>A (p.Thr967Asn)
|
rs780284256
|
0.00001
|
|
NM_004304.5(ALK):c.2906C>G (p.Ala969Gly)
|
rs954019663
|
0.00001
|
|
NM_004304.5(ALK):c.290C>G (p.Pro97Arg)
|
rs765290844
|
0.00001
|
|
NM_004304.5(ALK):c.2914+19A>G
|
rs1489499396
|
0.00001
|
|
NM_004304.5(ALK):c.2914+5C>T
|
rs750459441
|
0.00001
|
|
NM_004304.5(ALK):c.2915-11C>T
|
rs1286574271
|
0.00001
|
|
NM_004304.5(ALK):c.2915-19C>T
|
rs749399627
|
0.00001
|
|
NM_004304.5(ALK):c.2924G>C (p.Gly975Ala)
|
rs1472378906
|
0.00001
|
|
NM_004304.5(ALK):c.2929G>A (p.Gly977Arg)
|
rs568177600
|
0.00001
|
|
NM_004304.5(ALK):c.2973G>A (p.Glu991=)
|
rs1308382986
|
0.00001
|
|
NM_004304.5(ALK):c.297C>T (p.Leu99=)
|
rs545367563
|
0.00001
|
|
NM_004304.5(ALK):c.2980G>A (p.Glu994Lys)
|
rs150344432
|
0.00001
|
|
NM_004304.5(ALK):c.2994C>T (p.Asp998=)
|
rs1377614762
|
0.00001
|
|
NM_004304.5(ALK):c.3002G>A (p.Ser1001Asn)
|
rs997289275
|
0.00001
|
|
NM_004304.5(ALK):c.3004C>T (p.His1002Tyr)
|
rs764036965
|
0.00001
|
|
NM_004304.5(ALK):c.3014T>C (p.Ile1005Thr)
|
rs1452461214
|
0.00001
|
|
NM_004304.5(ALK):c.3054C>T (p.Gly1018=)
|
rs777769103
|
0.00001
|
|
NM_004304.5(ALK):c.3065T>C (p.Ile1022Thr)
|
rs778643763
|
0.00001
|
|
NM_004304.5(ALK):c.3067+3A>G
|
rs753385730
|
0.00001
|
|
NM_004304.5(ALK):c.3087A>T (p.Pro1029=)
|
rs753474713
|
0.00001
|
|
NM_004304.5(ALK):c.3094C>T (p.Pro1032Ser)
|
rs369347067
|
0.00001
|
|
NM_004304.5(ALK):c.3095C>T (p.Pro1032Leu)
|
rs752256731
|
0.00001
|
|
NM_004304.5(ALK):c.3097C>T (p.Leu1033Phe)
|
rs139365887
|
0.00001
|
|
NM_004304.5(ALK):c.3104T>G (p.Leu1035Arg)
|
rs1366270319
|
0.00001
|
|
NM_004304.5(ALK):c.3123C>T (p.Thr1041=)
|
rs773260725
|
0.00001
|
|
NM_004304.5(ALK):c.3126T>C (p.Ser1042=)
|
rs770090734
|
0.00001
|
|
NM_004304.5(ALK):c.3128C>T (p.Ala1043Val)
|
rs757521797
|
0.00001
|
|
NM_004304.5(ALK):c.312G>A (p.Pro104=)
|
rs1312913111
|
0.00001
|
|
NM_004304.5(ALK):c.3135G>A (p.Val1045=)
|
rs371735276
|
0.00001
|
|
NM_004304.5(ALK):c.3138C>T (p.Ala1046=)
|
rs747588801
|
0.00001
|
|
NM_004304.5(ALK):c.3172+12G>A
|
rs1271239593
|
0.00001
|
|
NM_004304.5(ALK):c.3173-6C>T
|
rs1229164523
|
0.00001
|
|
NM_004304.5(ALK):c.3173T>C (p.Val1058Ala)
|
rs772708400
|
0.00001
|
|
NM_004304.5(ALK):c.317C>G (p.Pro106Arg)
|
rs1037485859
|
0.00001
|
|
NM_004304.5(ALK):c.3181C>T (p.Arg1061Trp)
|
rs371521416
|
0.00001
|
|
NM_004304.5(ALK):c.3186G>A (p.Lys1062=)
|
rs1374146241
|
0.00001
|
|
NM_004304.5(ALK):c.3189C>G (p.His1063Gln)
|
rs1669866903
|
0.00001
|
|
NM_004304.5(ALK):c.320G>T (p.Gly107Val)
|
rs762635291
|
0.00001
|
|
NM_004304.5(ALK):c.321G>A (p.Gly107=)
|
rs1353027067
|
0.00001
|
|
NM_004304.5(ALK):c.3228T>C (p.Pro1076=)
|
rs199685862
|
0.00001
|
|
NM_004304.5(ALK):c.322G>A (p.Val108Ile)
|
rs1338077965
|
0.00001
|
|
NM_004304.5(ALK):c.3233A>G (p.Tyr1078Cys)
|
rs912992612
|
0.00001
|
|
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)
|
rs754163075
|
0.00001
|
|
NM_004304.5(ALK):c.324C>T (p.Val108=)
|
rs773054326
|
0.00001
|
|
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile)
|
rs113994090
|
0.00001
|
|
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)
|
rs864309584
|
0.00001
|
|
NM_004304.5(ALK):c.327C>T (p.Ser109=)
|
rs769422234
|
0.00001
|
|
NM_004304.5(ALK):c.3313A>G (p.Ile1105Val)
|
rs1426033956
|
0.00001
|
|
NM_004304.5(ALK):c.3335C>T (p.Pro1112Leu)
|
rs1319794557
|
0.00001
|
|
NM_004304.5(ALK):c.333C>T (p.Thr111=)
|
rs747647954
|
0.00001
|
|
NM_004304.5(ALK):c.3348C>A (p.Ile1116=)
|
rs374587233
|
0.00001
|
|
NM_004304.5(ALK):c.3358C>T (p.Arg1120Trp)
|
rs774951734
|
0.00001
|
|
NM_004304.5(ALK):c.3359+7G>A
|
rs778841767
|
0.00001
|
|
NM_004304.5(ALK):c.3360-18G>A
|
rs769660063
|
0.00001
|
|
NM_004304.5(ALK):c.3361G>A (p.Gly1121Ser)
|
rs781411935
|
0.00001
|
|
NM_004304.5(ALK):c.3366G>A (p.Leu1122=)
|
rs758871506
|
0.00001
|
|
NM_004304.5(ALK):c.3369C>T (p.Gly1123=)
|
rs148547594
|
0.00001
|
|
NM_004304.5(ALK):c.3376G>A (p.Ala1126Thr)
|
rs757580052
|
0.00001
|
|
NM_004304.5(ALK):c.3405G>A (p.Val1135=)
|
rs773665287
|
0.00001
|
|
NM_004304.5(ALK):c.3416C>T (p.Pro1139Leu)
|
rs769855519
|
0.00001
|
|
NM_004304.5(ALK):c.3417C>T (p.Pro1139=)
|
rs1366017808
|
0.00001
|
|
NM_004304.5(ALK):c.3421G>A (p.Asp1141Asn)
|
rs748493584
|
0.00001
|
|
NM_004304.5(ALK):c.343C>T (p.Pro115Ser)
|
rs1023682229
|
0.00001
|
|
NM_004304.5(ALK):c.344C>T (p.Pro115Leu)
|
rs1222939884
|
0.00001
|
|
NM_004304.5(ALK):c.3459T>A (p.Pro1153=)
|
rs1402836708
|
0.00001
|
|
NM_004304.5(ALK):c.3476A>T (p.Gln1159Leu)
|
rs1270501196
|
0.00001
|
|
NM_004304.5(ALK):c.3497T>C (p.Met1166Thr)
|
rs1057520019
|
0.00001
|
|
NM_004304.5(ALK):c.349C>T (p.Pro117Ser)
|
rs1289331589
|
0.00001
|
|
NM_004304.5(ALK):c.3524A>G (p.Asn1175Ser)
|
rs774872969
|
0.00001
|
|
NM_004304.5(ALK):c.352G>C (p.Ala118Pro)
|
rs1383948379
|
0.00001
|
|
NM_004304.5(ALK):c.3541C>T (p.Arg1181Cys)
|
rs56315533
|
0.00001
|
|
NM_004304.5(ALK):c.3547A>G (p.Ile1183Val)
|
rs770456378
|
0.00001
|
|
NM_004304.5(ALK):c.3548T>C (p.Ile1183Thr)
|
rs1002995598
|
0.00001
|
|
NM_004304.5(ALK):c.3553G>T (p.Val1185Leu)
|
rs749016081
|
0.00001
|
|
NM_004304.5(ALK):c.3555G>A (p.Val1185=)
|
rs777309744
|
0.00001
|
|
NM_004304.5(ALK):c.3566C>A (p.Ser1189Tyr)
|
rs971799902
|
0.00001
|
|
NM_004304.5(ALK):c.3572C>A (p.Pro1191His)
|
rs1060500210
|
0.00001
|
|
NM_004304.5(ALK):c.3575G>A (p.Arg1192Gln)
|
rs113994089
|
0.00001
|
|
NM_004304.5(ALK):c.357G>T (p.Glu119Asp)
|
rs758250431
|
0.00001
|
|
NM_004304.5(ALK):c.3591G>A (p.Glu1197=)
|
rs754966084
|
0.00001
|
|
NM_004304.5(ALK):c.3607G>A (p.Asp1203Asn)
|
rs759845895
|
0.00001
|
|
NM_004304.5(ALK):c.3626G>A (p.Arg1209Gln)
|
rs747643140
|
0.00001
|
|
NM_004304.5(ALK):c.362G>A (p.Arg121Gln)
|
rs779147984
|
0.00001
|
|
NM_004304.5(ALK):c.3630G>A (p.Glu1210=)
|
rs780746584
|
0.00001
|
|
NM_004304.5(ALK):c.3634C>T (p.Arg1212Cys)
|
rs1462510005
|
0.00001
|
|
NM_004304.5(ALK):c.3640C>T (p.Arg1214Cys)
|
rs758172315
|
0.00001
|
|
NM_004304.5(ALK):c.3642C>T (p.Arg1214=)
|
rs1394591243
|
0.00001
|
|
NM_004304.5(ALK):c.3644C>A (p.Pro1215Gln)
|
rs779222532
|
0.00001
|
|
NM_004304.5(ALK):c.3646-14C>T
|
rs898045539
|
0.00001
|
|
NM_004304.5(ALK):c.3651G>A (p.Gln1217=)
|
rs1009496053
|
0.00001
|
|
NM_004304.5(ALK):c.3657C>T (p.Ser1219=)
|
rs149254561
|
0.00001
|
|
NM_004304.5(ALK):c.365C>T (p.Thr122Met)
|
rs1367800764
|
0.00001
|
|
NM_004304.5(ALK):c.3663G>C (p.Leu1221=)
|
rs751889072
|
0.00001
|
|
NM_004304.5(ALK):c.3672G>A (p.Leu1224=)
|
rs142523023
|
0.00001
|
|
NM_004304.5(ALK):c.3684C>T (p.His1228=)
|
rs763332339
|
0.00001
|
|
NM_004304.5(ALK):c.3685G>T (p.Val1229Leu)
|
rs776228721
|
0.00001
|
|
NM_004304.5(ALK):c.370T>C (p.Ser124Pro)
|
rs1364916594
|
0.00001
|
|
NM_004304.5(ALK):c.3714G>A (p.Gln1238=)
|
rs1423030946
|
0.00001
|
|
NM_004304.5(ALK):c.3743+1G>C
|
rs1333697872
|
0.00001
|
|
NM_004304.5(ALK):c.3743+7C>T
|
rs1436256175
|
0.00001
|
|
NM_004304.5(ALK):c.3743G>A (p.Arg1248Gln)
|
rs368059424
|
0.00001
|
|
NM_004304.5(ALK):c.3744-5C>T
|
rs750800690
|
0.00001
|
|
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr)
|
rs113994092
|
0.00001
|
|
NM_004304.5(ALK):c.3769T>C (p.Leu1257=)
|
rs775036385
|
0.00001
|
|
NM_004304.5(ALK):c.376G>A (p.Val126Met)
|
rs753812162
|
0.00001
|
|
NM_004304.5(ALK):c.3784C>T (p.Pro1262Ser)
|
rs774360880
|
0.00001
|
|
NM_004304.5(ALK):c.3810C>T (p.Asp1270=)
|
rs773207399
|
0.00001
|
|
NM_004304.5(ALK):c.3812T>A (p.Phe1271Tyr)
|
rs1348950153
|
0.00001
|
|
NM_004304.5(ALK):c.3813C>T (p.Phe1271=)
|
rs1297505919
|
0.00001
|
|
NM_004304.5(ALK):c.3814G>A (p.Gly1272Arg)
|
rs770027238
|
0.00001
|
|
NM_004304.5(ALK):c.3820G>A (p.Ala1274Thr)
|
rs45502292
|
0.00001
|
|
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)
|
rs74716434
|
0.00001
|
|
NM_004304.5(ALK):c.3840G>C (p.Ala1280=)
|
rs765226629
|
0.00001
|
|
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn)
|
rs761459938
|
0.00001
|
|
NM_004304.5(ALK):c.384G>A (p.Lys128=)
|
rs753267950
|
0.00001
|
|
NM_004304.5(ALK):c.3855G>A (p.Lys1285=)
|
rs776547376
|
0.00001
|
|
NM_004304.5(ALK):c.3873G>T (p.Leu1291=)
|
rs772093140
|
0.00001
|
|
NM_004304.5(ALK):c.387C>T (p.Gly129=)
|
rs772964441
|
0.00001
|
|
NM_004304.5(ALK):c.3938+4A>G
|
rs754655331
|
0.00001
|
|
NM_004304.5(ALK):c.3939-11C>G
|
rs771308439
|
0.00001
|
|
NM_004304.5(ALK):c.393C>A (p.Ser131=)
|
rs765026986
|
0.00001
|
|
NM_004304.5(ALK):c.3945T>C (p.Phe1315=)
|
rs1669058336
|
0.00001
|
|
NM_004304.5(ALK):c.3958T>C (p.Trp1320Arg)
|
rs779796155
|
0.00001
|
|
NM_004304.5(ALK):c.3969T>C (p.Phe1323=)
|
rs1372668818
|
0.00001
|
|
NM_004304.5(ALK):c.3969T>G (p.Phe1323Leu)
|
rs1372668818
|
0.00001
|
|
NM_004304.5(ALK):c.3978A>G (p.Gly1326=)
|
rs200256900
|
0.00001
|
|
NM_004304.5(ALK):c.3992C>A (p.Pro1331His)
|
rs370364694
|
0.00001
|
|
NM_004304.5(ALK):c.4000A>G (p.Ser1334Gly)
|
rs1307066116
|
0.00001
|
|
NM_004304.5(ALK):c.4015C>G (p.Leu1339Val)
|
rs1416439647
|
0.00001
|
|
NM_004304.5(ALK):c.4040G>A (p.Arg1347Gln)
|
rs573049471
|
0.00001
|
|
NM_004304.5(ALK):c.4045G>C (p.Asp1349His)
|
rs368744524
|
0.00001
|
|
NM_004304.5(ALK):c.4059C>A (p.Asn1353Lys)
|
rs1352529334
|
0.00001
|
|
NM_004304.5(ALK):c.4061G>T (p.Cys1354Phe)
|
rs963770969
|
0.00001
|
|
NM_004304.5(ALK):c.4072G>A (p.Val1358Ile)
|
rs774271469
|
0.00001
|
|
NM_004304.5(ALK):c.4073+10T>C
|
rs773788274
|
0.00001
|
|
NM_004304.5(ALK):c.4073+12T>C
|
rs770438785
|
0.00001
|
|
NM_004304.5(ALK):c.4073+17A>G
|
rs762255617
|
0.00001
|
|
NM_004304.5(ALK):c.4073+6A>C
|
rs1404039400
|
0.00001
|
|
NM_004304.5(ALK):c.4074-17T>C
|
rs1390482554
|
0.00001
|
|
NM_004304.5(ALK):c.4078C>T (p.Arg1360Trp)
|
rs777303002
|
0.00001
|
|
NM_004304.5(ALK):c.409C>A (p.Arg137Ser)
|
rs757382067
|
0.00001
|
|
NM_004304.5(ALK):c.4112A>G (p.Glu1371Gly)
|
rs781021461
|
0.00001
|
|
NM_004304.5(ALK):c.4114G>A (p.Asp1372Asn)
|
rs535864522
|
0.00001
|
|
NM_004304.5(ALK):c.4121C>A (p.Pro1374His)
|
rs780310741
|
0.00001
|
|
NM_004304.5(ALK):c.4134C>T (p.Ile1378=)
|
rs754359252
|
0.00001
|
|
NM_004304.5(ALK):c.4138T>G (p.Leu1380Val)
|
rs1060500216
|
0.00001
|
|
NM_004304.5(ALK):c.4148T>C (p.Ile1383Thr)
|
rs1558606063
|
0.00001
|
|
NM_004304.5(ALK):c.414C>G (p.Ala138=)
|
rs1483565631
|
0.00001
|
|
NM_004304.5(ALK):c.415A>G (p.Lys139Glu)
|
rs749530596
|
0.00001
|
|
NM_004304.5(ALK):c.4165-5G>T
|
rs1668958083
|
0.00001
|
|
NM_004304.5(ALK):c.4171G>A (p.Asp1391Asn)
|
rs1231708230
|
0.00001
|
|
NM_004304.5(ALK):c.417G>A (p.Lys139=)
|
rs978498374
|
0.00001
|
|
NM_004304.5(ALK):c.4196T>C (p.Ile1399Thr)
|
rs746970974
|
0.00001
|
|
NM_004304.5(ALK):c.4208C>T (p.Pro1403Leu)
|
rs1212504281
|
0.00001
|
|
NM_004304.5(ALK):c.4222G>A (p.Glu1408Lys)
|
rs145600484
|
0.00001
|
|
NM_004304.5(ALK):c.4226A>G (p.Glu1409Gly)
|
rs1286165795
|
0.00001
|
|
NM_004304.5(ALK):c.4228A>G (p.Lys1410Glu)
|
rs755276699
|
0.00001
|
|
NM_004304.5(ALK):c.4230A>G (p.Lys1410=)
|
rs982208354
|
0.00001
|
|
NM_004304.5(ALK):c.4231G>C (p.Val1411Leu)
|
rs748638070
|
0.00001
|
|
NM_004304.5(ALK):c.4237G>A (p.Val1413Met)
|
rs560530815
|
0.00001
|
|
NM_004304.5(ALK):c.4241G>A (p.Arg1414Lys)
|
rs77762612
|
0.00001
|
|
NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn)
|
rs55782189
|
0.00001
|
|
NM_004304.5(ALK):c.4261G>A (p.Val1421Ile)
|
rs774358799
|
0.00001
|
|
NM_004304.5(ALK):c.4261G>T (p.Val1421Phe)
|
rs774358799
|
0.00001
|
|
NM_004304.5(ALK):c.427C>T (p.Leu143=)
|
rs1176553598
|
0.00001
|
|
NM_004304.5(ALK):c.4286A>C (p.Gln1429Pro)
|
rs55906201
|
0.00001
|
|
NM_004304.5(ALK):c.4286A>G (p.Gln1429Arg)
|
rs55906201
|
0.00001
|
|
NM_004304.5(ALK):c.428T>A (p.Leu143Gln)
|
rs777656583
|
0.00001
|
|
NM_004304.5(ALK):c.4303G>A (p.Glu1435Lys)
|
rs769694344
|
0.00001
|
|
NM_004304.5(ALK):c.4307G>A (p.Arg1436His)
|
rs544926207
|
0.00001
|
|
NM_004304.5(ALK):c.4318G>C (p.Ala1440Pro)
|
rs1307483937
|
0.00001
|
|
NM_004304.5(ALK):c.432G>A (p.Glu144=)
|
rs968483486
|
0.00001
|
|
NM_004304.5(ALK):c.4344C>T (p.Ser1448=)
|
rs886055929
|
0.00001
|
|
NM_004304.5(ALK):c.4348G>A (p.Gly1450Ser)
|
rs1346420173
|
0.00001
|
|
NM_004304.5(ALK):c.434T>C (p.Leu145Pro)
|
rs1305698643
|
0.00001
|
|
NM_004304.5(ALK):c.4357G>A (p.Ala1453Thr)
|
rs752317227
|
0.00001
|
|
NM_004304.5(ALK):c.4379A>G (p.Glu1460Gly)
|
rs773248596
|
0.00001
|
|
NM_004304.5(ALK):c.4390C>G (p.Arg1464Gly)
|
rs374135358
|
0.00001
|
|
NM_004304.5(ALK):c.439G>A (p.Glu147Lys)
|
rs756273623
|
0.00001
|
|
NM_004304.5(ALK):c.4410C>T (p.Ala1470=)
|
rs990658464
|
0.00001
|
|
NM_004304.5(ALK):c.4411G>A (p.Val1471Met)
|
rs201759867
|
0.00001
|
|
NM_004304.5(ALK):c.4416A>T (p.Glu1472Asp)
|
rs538459690
|
0.00001
|
|
NM_004304.5(ALK):c.4418G>A (p.Gly1473Glu)
|
rs1174344092
|
0.00001
|
|
NM_004304.5(ALK):c.4419G>C (p.Gly1473=)
|
rs752227509
|
0.00001
|
|
NM_004304.5(ALK):c.4421G>A (p.Gly1474Glu)
|
rs1293939080
|
0.00001
|
|
NM_004304.5(ALK):c.4427T>C (p.Val1476Ala)
|
rs1329539708
|
0.00001
|
|
NM_004304.5(ALK):c.443A>T (p.Glu148Val)
|
rs1331266292
|
0.00001
|
|
NM_004304.5(ALK):c.4445A>C (p.Gln1482Pro)
|
rs751473124
|
0.00001
|
|
NM_004304.5(ALK):c.4451A>G (p.Asn1484Ser)
|
rs752320442
|
0.00001
|
|
NM_004304.5(ALK):c.4460C>T (p.Ser1487Leu)
|
rs1182539285
|
0.00001
|
|
NM_004304.5(ALK):c.4465T>C (p.Leu1489=)
|
rs1573078445
|
0.00001
|
|
NM_004304.5(ALK):c.4467G>A (p.Leu1489=)
|
rs1452074719
|
0.00001
|
|
NM_004304.5(ALK):c.446C>T (p.Ala149Val)
|
rs374276783
|
0.00001
|
|
NM_004304.5(ALK):c.4474G>A (p.Val1492Ile)
|
rs567438064
|
0.00001
|
|
NM_004304.5(ALK):c.4486A>C (p.Arg1496=)
|
rs1378185030
|
0.00001
|
|
NM_004304.5(ALK):c.4506G>A (p.Leu1502=)
|
rs758399865
|
0.00001
|
|
NM_004304.5(ALK):c.4521C>T (p.Tyr1507=)
|
rs566993546
|
0.00001
|
|
NM_004304.5(ALK):c.4554G>T (p.Lys1518Asn)
|
rs774746810
|
0.00001
|
|
NM_004304.5(ALK):c.4565T>C (p.Ile1522Thr)
|
rs771352312
|
0.00001
|
|
NM_004304.5(ALK):c.4565T>G (p.Ile1522Arg)
|
rs771352312
|
0.00001
|
|
NM_004304.5(ALK):c.4584C>T (p.His1528=)
|
rs746470148
|
0.00001
|
|
NM_004304.5(ALK):c.4585G>A (p.Asp1529Asn)
|
rs779663817
|
0.00001
|
|
NM_004304.5(ALK):c.4601G>A (p.Gly1534Glu)
|
rs139185626
|
0.00001
|
|
NM_004304.5(ALK):c.4605G>A (p.Leu1535=)
|
rs1459765837
|
0.00001
|
|
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)
|
rs147241767
|
0.00001
|
|
NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys)
|
rs763403897
|
0.00001
|
|
NM_004304.5(ALK):c.4633G>A (p.Val1545Ile)
|
rs1296992304
|
0.00001
|
|
NM_004304.5(ALK):c.4636G>C (p.Ala1546Pro)
|
rs1668930591
|
0.00001
|
|
NM_004304.5(ALK):c.464T>A (p.Val155Asp)
|
rs1206463887
|
0.00001
|
|
NM_004304.5(ALK):c.4652C>T (p.Pro1551Leu)
|
rs200425614
|
0.00001
|
|
NM_004304.5(ALK):c.4653G>A (p.Pro1551=)
|
rs1376929970
|
0.00001
|
|
NM_004304.5(ALK):c.4658C>G (p.Ala1553Gly)
|
rs1553386898
|
0.00001
|
|
NM_004304.5(ALK):c.4662A>T (p.Ser1554=)
|
rs1417400257
|
0.00001
|
|
NM_004304.5(ALK):c.4671A>G (p.Leu1557=)
|
rs1488644335
|
0.00001
|
|
NM_004304.5(ALK):c.4683G>A (p.Ser1561=)
|
rs150487874
|
0.00001
|
|
NM_004304.5(ALK):c.4685T>G (p.Leu1562Arg)
|
rs974930400
|
0.00001
|
|
NM_004304.5(ALK):c.4694A>G (p.Asn1565Ser)
|
rs1208409389
|
0.00001
|
|
NM_004304.5(ALK):c.4698G>A (p.Met1566Ile)
|
rs1291120133
|
0.00001
|
|
NM_004304.5(ALK):c.4701G>C (p.Lys1567Asn)
|
rs1413940049
|
0.00001
|
|
NM_004304.5(ALK):c.4724G>A (p.Arg1575His)
|
rs745349865
|
0.00001
|
|
NM_004304.5(ALK):c.4729T>G (p.Phe1577Val)
|
rs200829376
|
0.00001
|
|
NM_004304.5(ALK):c.472C>A (p.Pro158Thr)
|
rs536284304
|
0.00001
|
|
NM_004304.5(ALK):c.4737T>C (p.Cys1579=)
|
rs553333897
|
0.00001
|
|
NM_004304.5(ALK):c.4744G>A (p.Val1582Ile)
|
rs1553386863
|
0.00001
|
|
NM_004304.5(ALK):c.4746C>T (p.Val1582=)
|
rs1237752481
|
0.00001
|
|
NM_004304.5(ALK):c.4749T>C (p.Asn1583=)
|
rs766508956
|
0.00001
|
|
NM_004304.5(ALK):c.4752C>T (p.Tyr1584=)
|
rs758556216
|
0.00001
|
|
NM_004304.5(ALK):c.4753G>T (p.Gly1585Cys)
|
rs1573077410
|
0.00001
|
|
NM_004304.5(ALK):c.4755C>G (p.Gly1585=)
|
rs1060500217
|
0.00001
|
|
NM_004304.5(ALK):c.475G>A (p.Gly159Arg)
|
rs367875912
|
0.00001
|
|
NM_004304.5(ALK):c.4761G>C (p.Gln1587His)
|
rs1396711236
|
0.00001
|
|
NM_004304.5(ALK):c.4768G>A (p.Gly1590Ser)
|
rs190639819
|
0.00001
|
|
NM_004304.5(ALK):c.4770C>T (p.Gly1590=)
|
rs1364640889
|
0.00001
|
|
NM_004304.5(ALK):c.478G>A (p.Glu160Lys)
|
rs1667952034
|
0.00001
|
|
NM_004304.5(ALK):c.4804G>A (p.Gly1602Ser)
|
rs747161831
|
0.00001
|
|
NM_004304.5(ALK):c.4809T>C (p.His1603=)
|
rs758502850
|
0.00001
|
|
NM_004304.5(ALK):c.4815G>A (p.Glu1605=)
|
rs764304191
|
0.00001
|
|
NM_004304.5(ALK):c.4826T>C (p.Leu1609Pro)
|
rs1668919067
|
0.00001
|
|
NM_004304.5(ALK):c.4830A>T (p.Lys1610Asn)
|
rs766072801
|
0.00001
|
|
NM_004304.5(ALK):c.4842C>T (p.Ser1614=)
|
rs1280729630
|
0.00001
|
|
NM_004304.5(ALK):c.4845G>A (p.Met1615Ile)
|
rs747978928
|
0.00001
|
|
NM_004304.5(ALK):c.4849C>T (p.Gln1617Ter)
|
rs1345614251
|
0.00001
|
|
NM_004304.5(ALK):c.4862G>A (p.Ter1621=)
|
rs1327032874
|
0.00001
|
|
NM_004304.5(ALK):c.48G>C (p.Thr16=)
|
rs758016860
|
0.00001
|
|
NM_004304.5(ALK):c.490G>A (p.Gly164Arg)
|
rs1060500219
|
0.00001
|
|
NM_004304.5(ALK):c.501G>T (p.Gln167His)
|
rs781440137
|
0.00001
|
|
NM_004304.5(ALK):c.502T>C (p.Phe168Leu)
|
rs1374532256
|
0.00001
|
|
NM_004304.5(ALK):c.504C>T (p.Phe168=)
|
rs1049819210
|
0.00001
|
|
NM_004304.5(ALK):c.512G>A (p.Ser171Asn)
|
rs753403262
|
0.00001
|
|
NM_004304.5(ALK):c.514G>A (p.Glu172Lys)
|
rs1667950677
|
0.00001
|
|
NM_004304.5(ALK):c.520T>C (p.Phe174Leu)
|
rs1667950450
|
0.00001
|
|
NM_004304.5(ALK):c.522C>A (p.Phe174Leu)
|
rs587778020
|
0.00001
|
|
NM_004304.5(ALK):c.526T>C (p.Trp176Arg)
|
rs1365096158
|
0.00001
|
|
NM_004304.5(ALK):c.52G>C (p.Ala18Pro)
|
rs1203105916
|
0.00001
|
|
NM_004304.5(ALK):c.548G>T (p.Gly183Val)
|
rs1060500223
|
0.00001
|
|
NM_004304.5(ALK):c.55G>A (p.Val19Met)
|
rs1057384991
|
0.00001
|
|
NM_004304.5(ALK):c.561C>T (p.Ile187=)
|
rs1410159912
|
0.00001
|
|
NM_004304.5(ALK):c.562C>T (p.Arg188Cys)
|
rs1306212162
|
0.00001
|
|
NM_004304.5(ALK):c.568A>G (p.Met190Val)
|
rs901176586
|
0.00001
|
|
NM_004304.5(ALK):c.574G>A (p.Glu192Lys)
|
rs770006984
|
0.00001
|
|
NM_004304.5(ALK):c.587C>T (p.Ser196Leu)
|
rs1235761698
|
0.00001
|
|
NM_004304.5(ALK):c.612G>A (p.Leu204=)
|
rs1184727611
|
0.00001
|
|
NM_004304.5(ALK):c.623T>C (p.Ile208Thr)
|
rs372226787
|
0.00001
|
|
NM_004304.5(ALK):c.627C>T (p.Arg209=)
|
rs1165267868
|
0.00001
|
|
NM_004304.5(ALK):c.630C>G (p.Ala210=)
|
rs1337002578
|
0.00001
|
|
NM_004304.5(ALK):c.641G>A (p.Arg214His)
|
rs766999851
|
0.00001
|
|
NM_004304.5(ALK):c.653A>G (p.Gln218Arg)
|
rs751419585
|
0.00001
|
|
NM_004304.5(ALK):c.655A>G (p.Ile219Val)
|
rs886055932
|
0.00001
|
|
NM_004304.5(ALK):c.658T>C (p.Phe220Leu)
|
rs1484797934
|
0.00001
|
|
NM_004304.5(ALK):c.663G>C (p.Gly221=)
|
rs762819109
|
0.00001
|
|
NM_004304.5(ALK):c.667+16C>G
|
rs768827717
|
0.00001
|
|
NM_004304.5(ALK):c.667+17T>C
|
rs1343781387
|
0.00001
|
|
NM_004304.5(ALK):c.667+6C>G
|
rs1292761264
|
0.00001
|
|
NM_004304.5(ALK):c.668-13T>C
|
rs1158740527
|
0.00001
|
|
NM_004304.5(ALK):c.670C>T (p.His224Tyr)
|
rs1407129567
|
0.00001
|
|
NM_004304.5(ALK):c.686C>T (p.Ser229Leu)
|
rs1447260360
|
0.00001
|
|
NM_004304.5(ALK):c.699G>A (p.Met233Ile)
|
rs778129557
|
0.00001
|
|
NM_004304.5(ALK):c.709T>C (p.Ser237Pro)
|
rs757916299
|
0.00001
|
|
NM_004304.5(ALK):c.726A>G (p.Thr242=)
|
rs1679301048
|
0.00001
|
|
NM_004304.5(ALK):c.730A>T (p.Asn244Tyr)
|
rs753646573
|
0.00001
|
|
NM_004304.5(ALK):c.731A>C (p.Asn244Thr)
|
rs763986679
|
0.00001
|
|
NM_004304.5(ALK):c.735C>T (p.Leu245=)
|
rs752920768
|
0.00001
|
|
NM_004304.5(ALK):c.74C>T (p.Thr25Ile)
|
rs753812499
|
0.00001
|
|
NM_004304.5(ALK):c.768G>A (p.Leu256=)
|
rs201536994
|
0.00001
|
|
NM_004304.5(ALK):c.76G>A (p.Gly26Ser)
|
rs1060500214
|
0.00001
|
|
NM_004304.5(ALK):c.771T>C (p.Ser257=)
|
rs773497455
|
0.00001
|
|
NM_004304.5(ALK):c.775C>T (p.Arg259Cys)
|
rs771593278
|
0.00001
|
|
NM_004304.5(ALK):c.783A>T (p.Arg261=)
|
rs777698508
|
0.00001
|
|
NM_004304.5(ALK):c.788-17C>T
|
rs1230413927
|
0.00001
|
|
NM_004304.5(ALK):c.788-19C>G
|
rs745521483
|
0.00001
|
|
NM_004304.5(ALK):c.788-5T>C
|
rs749234736
|
0.00001
|
|
NM_004304.5(ALK):c.788-7A>G
|
rs770622974
|
0.00001
|
|
NM_004304.5(ALK):c.79C>G (p.Gln27Glu)
|
rs1469224885
|
0.00001
|
|
NM_004304.5(ALK):c.810C>T (p.Phe270=)
|
rs575893409
|
0.00001
|
|
NM_004304.5(ALK):c.830C>T (p.Ser277Phe)
|
rs1486167712
|
0.00001
|
|
NM_004304.5(ALK):c.831C>G (p.Ser277=)
|
rs765615879
|
0.00001
|
|
NM_004304.5(ALK):c.832C>T (p.Pro278Ser)
|
rs762417760
|
0.00001
|
|
NM_004304.5(ALK):c.839T>C (p.Leu280Pro)
|
rs764532876
|
0.00001
|
|
NM_004304.5(ALK):c.843T>A (p.His281Gln)
|
rs759250272
|
0.00001
|
|
NM_004304.5(ALK):c.846C>T (p.Asp282=)
|
rs56116528
|
0.00001
|
|
NM_004304.5(ALK):c.84C>T (p.Arg28=)
|
rs1355709394
|
0.00001
|
|
NM_004304.5(ALK):c.87G>A (p.Ala29=)
|
rs1408956474
|
0.00001
|
|
NM_004304.5(ALK):c.884C>T (p.Ser295Phe)
|
rs754823963
|
0.00001
|
|
NM_004304.5(ALK):c.885C>T (p.Ser295=)
|
rs1060503882
|
0.00001
|
|
NM_004304.5(ALK):c.892G>A (p.Ala298Thr)
|
rs577240830
|
0.00001
|
|
NM_004304.5(ALK):c.893C>G (p.Ala298Gly)
|
rs750435024
|
0.00001
|
|
NM_004304.5(ALK):c.902T>A (p.Met301Lys)
|
rs372244228
|
0.00001
|
|
NM_004304.5(ALK):c.904G>C (p.Asp302His)
|
rs1275855734
|
0.00001
|
|
NM_004304.5(ALK):c.922G>A (p.Gly308Arg)
|
rs1553348499
|
0.00001
|
|
NM_004304.5(ALK):c.940G>A (p.Glu314Lys)
|
rs538448899
|
0.00001
|
|
NM_004304.5(ALK):c.946C>A (p.Pro316Thr)
|
rs1254406721
|
0.00001
|
|
NM_004304.5(ALK):c.94C>G (p.Pro32Ala)
|
rs573276657
|
0.00001
|
|
NM_004304.5(ALK):c.953-5T>C
|
rs746073787
|
0.00001
|
|
NM_004304.5(ALK):c.980C>A (p.Ala327Asp)
|
rs1414553731
|
0.00001
|
|
NM_004304.5(ALK):c.989A>G (p.Lys330Arg)
|
rs781677582
|
0.00001
|
|
NM_004484.4(GPC3):c.1031C>T (p.Thr344Ile)
|
rs768328829
|
0.00001
|
|
NM_004484.4(GPC3):c.1033-8T>A
|
rs768284135
|
0.00001
|
|
NM_004484.4(GPC3):c.1050C>T (p.Ala350=)
|
rs910104431
|
0.00001
|
|
NM_004484.4(GPC3):c.1063C>T (p.Arg355Cys)
|
rs745700691
|
0.00001
|
|
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys)
|
rs757269723
|
0.00001
|
|
NM_004484.4(GPC3):c.1074A>G (p.Arg358=)
|
rs748177539
|
0.00001
|
|
NM_004484.4(GPC3):c.1087C>T (p.Pro363Ser)
|
rs922588870
|
0.00001
|
|
NM_004484.4(GPC3):c.1117T>C (p.Leu373=)
|
rs1158179802
|
0.00001
|
|
NM_004484.4(GPC3):c.1158C>T (p.Ser386=)
|
rs1317567175
|
0.00001
|
|
NM_004484.4(GPC3):c.1162A>G (p.Arg388Gly)
|
rs199812705
|
0.00001
|
|
NM_004484.4(GPC3):c.1167-18G>A
|
rs376180673
|
0.00001
|
|
NM_004484.4(GPC3):c.1178A>C (p.Gln393Pro)
|
rs1313616176
|
0.00001
|
|
NM_004484.4(GPC3):c.1181A>G (p.Lys394Arg)
|
rs764609423
|
0.00001
|
|
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro)
|
rs1238291553
|
0.00001
|
|
NM_004484.4(GPC3):c.1220G>A (p.Gly407Asp)
|
rs752259157
|
0.00001
|
|
NM_004484.4(GPC3):c.1224C>T (p.Tyr408=)
|
rs764743087
|
0.00001
|
|
NM_004484.4(GPC3):c.1247C>T (p.Ala416Val)
|
rs770886523
|
0.00001
|
|
NM_004484.4(GPC3):c.1248G>A (p.Ala416=)
|
rs201677091
|
0.00001
|
|
NM_004484.4(GPC3):c.1255G>A (p.Asp419Asn)
|
rs755544588
|
0.00001
|
|
NM_004484.4(GPC3):c.1256A>G (p.Asp419Gly)
|
rs1185485932
|
0.00001
|
|
NM_004484.4(GPC3):c.126C>T (p.Phe42=)
|
rs1345541727
|
0.00001
|
|
NM_004484.4(GPC3):c.1275A>G (p.Gly425=)
|
rs749258552
|
0.00001
|
|
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)
|
rs749874149
|
0.00001
|
|
NM_004484.4(GPC3):c.1292+20A>T
|
rs751617029
|
0.00001
|
|
NM_004484.4(GPC3):c.1292+6C>T
|
rs1207247416
|
0.00001
|
|
NM_004484.4(GPC3):c.1293-4A>G
|
rs760507742
|
0.00001
|
|
NM_004484.4(GPC3):c.1293-5T>C
|
rs766154973
|
0.00001
|
|
NM_004484.4(GPC3):c.1296C>T (p.Tyr432=)
|
rs946461494
|
0.00001
|
|
NM_004484.4(GPC3):c.1318G>A (p.Gly440Arg)
|
rs1203009272
|
0.00001
|
|
NM_004484.4(GPC3):c.1371A>G (p.Pro457=)
|
rs775401103
|
0.00001
|
|
NM_004484.4(GPC3):c.1373T>C (p.Val458Ala)
|
rs1392958281
|
0.00001
|
|
NM_004484.4(GPC3):c.1378A>C (p.Ser460Arg)
|
rs769964258
|
0.00001
|
|
NM_004484.4(GPC3):c.1404C>T (p.His468=)
|
rs145981282
|
0.00001
|
|
NM_004484.4(GPC3):c.1410C>T (p.Asn470=)
|
rs1176444823
|
0.00001
|
|
NM_004484.4(GPC3):c.1413+4T>C
|
rs1468820113
|
0.00001
|
|
NM_004484.4(GPC3):c.1413+8G>A
|
rs2070728404
|
0.00001
|
|
NM_004484.4(GPC3):c.1414-7C>T
|
rs766064951
|
0.00001
|
|
NM_004484.4(GPC3):c.1437C>G (p.Pro479=)
|
rs1337307928
|
0.00001
|
|
NM_004484.4(GPC3):c.1452G>A (p.Leu484=)
|
rs1451331248
|
0.00001
|
|
NM_004484.4(GPC3):c.1535G>A (p.Gly512Glu)
|
rs1162314906
|
0.00001
|
|
NM_004484.4(GPC3):c.1536A>C (p.Gly512=)
|
rs1453935606
|
0.00001
|
|
NM_004484.4(GPC3):c.1547T>C (p.Val516Ala)
|
rs763968425
|
0.00001
|
|
NM_004484.4(GPC3):c.154G>C (p.Val52Leu)
|
rs1221218346
|
0.00001
|
|
NM_004484.4(GPC3):c.1550A>G (p.Lys517Arg)
|
rs758464784
|
0.00001
|
|
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro)
|
rs1015207544
|
0.00001
|
|
NM_004484.4(GPC3):c.1573+15C>G
|
rs1183489326
|
0.00001
|
|
NM_004484.4(GPC3):c.159A>G (p.Pro53=)
|
rs764505002
|
0.00001
|
|
NM_004484.4(GPC3):c.1604C>T (p.Ala535Val)
|
rs750138489
|
0.00001
|
|
NM_004484.4(GPC3):c.1619A>G (p.Gln540Arg)
|
rs757034991
|
0.00001
|
|
NM_004484.4(GPC3):c.1641C>T (p.Asn547=)
|
rs772217919
|
0.00001
|
|
NM_004484.4(GPC3):c.1642G>A (p.Glu548Lys)
|
rs372317881
|
0.00001
|
|
NM_004484.4(GPC3):c.1671C>T (p.Asn557=)
|
rs1487734633
|
0.00001
|
|
NM_004484.4(GPC3):c.1683G>A (p.Pro561=)
|
rs1302862383
|
0.00001
|
|
NM_004484.4(GPC3):c.1686G>C (p.Leu562=)
|
rs1556111740
|
0.00001
|
|
NM_004484.4(GPC3):c.1698C>T (p.Thr566=)
|
rs201310379
|
0.00001
|
|
NM_004484.4(GPC3):c.171G>A (p.Val57=)
|
rs398124166
|
0.00001
|
|
NM_004484.4(GPC3):c.1729T>C (p.Phe577Leu)
|
rs755635706
|
0.00001
|
|
NM_004484.4(GPC3):c.1736T>G (p.Val579Gly)
|
rs1197981146
|
0.00001
|
|
NM_004484.4(GPC3):c.1739A>G (p.His580Arg)
|
rs1449654880
|
0.00001
|
|
NM_004484.4(GPC3):c.174A>G (p.Pro58=)
|
rs1357590429
|
0.00001
|
|
NM_004484.4(GPC3):c.192A>T (p.Val64=)
|
rs2076401014
|
0.00001
|
|
NM_004484.4(GPC3):c.259T>C (p.Leu87=)
|
rs1399185241
|
0.00001
|
|
NM_004484.4(GPC3):c.327G>A (p.Ala109=)
|
rs1466168469
|
0.00001
|
|
NM_004484.4(GPC3):c.342C>T (p.Ala114=)
|
rs748391795
|
0.00001
|
|
NM_004484.4(GPC3):c.34G>T (p.Val12Leu)
|
rs748152935
|
0.00001
|
|
NM_004484.4(GPC3):c.363T>A (p.His121Gln)
|
rs754433681
|
0.00001
|
|
NM_004484.4(GPC3):c.368A>G (p.Lys123Arg)
|
rs1490064135
|
0.00001
|
|
NM_004484.4(GPC3):c.384C>T (p.Ala128=)
|
rs761541528
|
0.00001
|
|
NM_004484.4(GPC3):c.391A>G (p.Lys131Glu)
|
rs1295553120
|
0.00001
|
|
NM_004484.4(GPC3):c.392A>G (p.Lys131Arg)
|
rs751302717
|
0.00001
|
|
NM_004484.4(GPC3):c.415C>T (p.Pro139Ser)
|
rs149261557
|
0.00001
|
|
NM_004484.4(GPC3):c.421G>A (p.Ala141Thr)
|
rs1360346581
|
0.00001
|
|
NM_004484.4(GPC3):c.430T>A (p.Phe144Ile)
|
rs1404574866
|
0.00001
|
|
NM_004484.4(GPC3):c.450A>G (p.Thr150=)
|
rs1569426383
|
0.00001
|
|
NM_004484.4(GPC3):c.480C>T (p.Asp160=)
|
rs970592059
|
0.00001
|
|
NM_004484.4(GPC3):c.482T>C (p.Ile161Thr)
|
rs1194302542
|
0.00001
|
|
NM_004484.4(GPC3):c.496A>G (p.Met166Val)
|
rs1556297827
|
0.00001
|
|
NM_004484.4(GPC3):c.526C>G (p.Pro176Ala)
|
rs748458384
|
0.00001
|
|
NM_004484.4(GPC3):c.543G>A (p.Gln181=)
|
rs1266410074
|
0.00001
|
|
NM_004484.4(GPC3):c.549G>T (p.Met183Ile)
|
rs769104574
|
0.00001
|
|
NM_004484.4(GPC3):c.584A>G (p.Asn195Ser)
|
rs745317547
|
0.00001
|
|
NM_004484.4(GPC3):c.596G>A (p.Arg199Gln)
|
rs1389517208
|
0.00001
|
|
NM_004484.4(GPC3):c.602C>G (p.Ala201Gly)
|
rs201344338
|
0.00001
|
|
NM_004484.4(GPC3):c.611A>G (p.Asp204Gly)
|
rs1290496193
|
0.00001
|
|
NM_004484.4(GPC3):c.624T>A (p.Phe208Leu)
|
rs140848049
|
0.00001
|
|
NM_004484.4(GPC3):c.62C>A (p.Pro21Gln)
|
rs745984441
|
0.00001
|
|
NM_004484.4(GPC3):c.682A>C (p.Ile228Leu)
|
rs774682860
|
0.00001
|
|
NM_004484.4(GPC3):c.696T>C (p.Ala232=)
|
rs2071695506
|
0.00001
|
|
NM_004484.4(GPC3):c.69G>A (p.Gln23=)
|
rs1197283364
|
0.00001
|
|
NM_004484.4(GPC3):c.727A>G (p.Thr243Ala)
|
rs1203561413
|
0.00001
|
|
NM_004484.4(GPC3):c.735C>T (p.His245=)
|
rs776010902
|
0.00001
|
|
NM_004484.4(GPC3):c.747T>C (p.Ser249=)
|
rs1229244439
|
0.00001
|
|
NM_004484.4(GPC3):c.753C>A (p.Asp251Glu)
|
rs770414070
|
0.00001
|
|
NM_004484.4(GPC3):c.787T>A (p.Ser263Thr)
|
rs1447010765
|
0.00001
|
|
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)
|
rs765072095
|
0.00001
|
|
NM_004484.4(GPC3):c.802C>T (p.Leu268=)
|
rs754903885
|
0.00001
|
|
NM_004484.4(GPC3):c.811G>A (p.Val271Ile)
|
rs2071693313
|
0.00001
|
|
NM_004484.4(GPC3):c.844A>G (p.Met282Val)
|
rs151082475
|
0.00001
|
|
NM_004484.4(GPC3):c.865G>A (p.Val289Met)
|
rs1456458902
|
0.00001
|
|
NM_004484.4(GPC3):c.869T>G (p.Val290Gly)
|
rs1244073847
|
0.00001
|
|
NM_004484.4(GPC3):c.918T>C (p.Leu306=)
|
rs753655328
|
0.00001
|
|
NM_004484.4(GPC3):c.919G>C (p.Val307Leu)
|
rs780001214
|
0.00001
|
|
NM_004484.4(GPC3):c.924T>A (p.Asn308Lys)
|
rs368928269
|
0.00001
|
|
NM_004484.4(GPC3):c.954C>T (p.Asn318=)
|
rs2071689255
|
0.00001
|
|
NM_004484.4(GPC3):c.955G>A (p.Val319Ile)
|
rs753020197
|
0.00001
|
|
NM_004484.4(GPC3):c.959T>C (p.Leu320Pro)
|
rs759943578
|
0.00001
|
|
NM_004484.4(GPC3):c.966T>C (p.Gly322=)
|
rs1211890549
|
0.00001
|
|
NM_004484.4(GPC3):c.967C>T (p.Leu323Phe)
|
rs1488891852
|
0.00001
|
|
NM_004656.4(BAP1):c.256-3C>A
|
rs752536342
|
0.00001
|
|
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)
|
rs786201404
|
0.00001
|
|
NM_005612.5(REST):c.1639G>T (p.Val547Leu)
|
rs754696564
|
0.00001
|
|
NM_005612.5(REST):c.2068C>T (p.Pro690Ser)
|
rs1169375776
|
0.00001
|
|
NM_005612.5(REST):c.2780A>G (p.Asn927Ser)
|
rs557500462
|
0.00001
|
|
NM_005612.5(REST):c.831_832del (p.Cys278fs)
|
rs869025310
|
0.00001
|
|
NM_005612.5(REST):c.965A>G (p.His322Arg)
|
rs869025312
|
0.00001
|
|
NM_016169.4(SUFU):c.*1145A>G
|
rs1190732664
|
0.00001
|
|
NM_016169.4(SUFU):c.*2278C>G
|
rs530131484
|
0.00001
|
|
NM_016169.4(SUFU):c.*2475C>T
|
rs886046661
|
0.00001
|
|
NM_016169.4(SUFU):c.*3045A>G
|
rs185874880
|
0.00001
|
|
NM_016169.4(SUFU):c.*305C>A
|
rs1430494184
|
0.00001
|
|
NM_016169.4(SUFU):c.*405G>A
|
rs2063829258
|
0.00001
|
|
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe)
|
rs757401093
|
0.00001
|
|
NM_016169.4(SUFU):c.1005C>T (p.Leu335=)
|
rs575246362
|
0.00001
|
|
NM_016169.4(SUFU):c.1011C>T (p.His337=)
|
rs747747662
|
0.00001
|
|
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)
|
rs773037813
|
0.00001
|
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+12A>G
|
rs2063496960
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+14T>C
|
rs758576759
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+16T>C
|
rs764272302
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+6T>C
|
rs1216584462
|
0.00001
|
|
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)
|
rs587778699
|
0.00001
|
|
NM_016169.4(SUFU):c.1023-16T>C
|
rs762717407
|
0.00001
|
|
NM_016169.4(SUFU):c.1023-18C>A
|
rs892399500
|
0.00001
|
|
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)
|
rs751728820
|
0.00001
|
|
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln)
|
rs1590082116
|
0.00001
|
|
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln)
|
rs1447671524
|
0.00001
|
|
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr)
|
rs1464341550
|
0.00001
|
|
NM_016169.4(SUFU):c.1073A>G (p.His358Arg)
|
rs1432365875
|
0.00001
|
|
NM_016169.4(SUFU):c.107C>T (p.Ala36Val)
|
rs566714720
|
0.00001
|
|
NM_016169.4(SUFU):c.1085G>A (p.Arg362His)
|
rs755390277
|
0.00001
|
|
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met)
|
rs1554854578
|
0.00001
|
|
NM_016169.4(SUFU):c.1089G>A (p.Thr363=)
|
rs1438357532
|
0.00001
|
|
NM_016169.4(SUFU):c.1089G>T (p.Thr363=)
|
rs1438357532
|
0.00001
|
|
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln)
|
rs749802616
|
0.00001
|
|
NM_016169.4(SUFU):c.1104C>T (p.Ser368=)
|
rs746580970
|
0.00001
|
|
NM_016169.4(SUFU):c.1131C>T (p.Ser377=)
|
rs775396007
|
0.00001
|
|
NM_016169.4(SUFU):c.1146T>G (p.Pro382=)
|
rs1159204850
|
0.00001
|
|
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser)
|
rs375419295
|
0.00001
|
|
NM_016169.4(SUFU):c.1157+14C>A
|
rs2063675828
|
0.00001
|
|
NM_016169.4(SUFU):c.1157+6C>T
|
rs535323089
|
0.00001
|
|
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys)
|
rs767814106
|
0.00001
|
|
NM_016169.4(SUFU):c.1158-8A>G
|
rs749166919
|
0.00001
|
|
NM_016169.4(SUFU):c.1176A>G (p.Gly392=)
|
rs771819487
|
0.00001
|
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
|
NM_016169.4(SUFU):c.1188A>C (p.Thr396=)
|
rs1418070936
|
0.00001
|
|
NM_016169.4(SUFU):c.1191T>C (p.Tyr397=)
|
rs895235845
|
0.00001
|
|
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)
|
rs1554854758
|
0.00001
|
|
NM_016169.4(SUFU):c.1218C>A (p.Ile406=)
|
rs1416629342
|
0.00001
|
|
NM_016169.4(SUFU):c.1227C>G (p.Val409=)
|
rs753190647
|
0.00001
|
|
NM_016169.4(SUFU):c.123C>T (p.Cys41=)
|
rs1412892420
|
0.00001
|
|
NM_016169.4(SUFU):c.124C>T (p.Arg42Cys)
|
rs2062292519
|
0.00001
|
|
NM_016169.4(SUFU):c.1275G>A (p.Ala425=)
|
rs771832461
|
0.00001
|
|
NM_016169.4(SUFU):c.1296+9G>T
|
rs759664715
|
0.00001
|
|
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)
|
rs766370528
|
0.00001
|
|
NM_016169.4(SUFU):c.1317T>C (p.Phe439=)
|
rs748603932
|
0.00001
|
|
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn)
|
rs1311816626
|
0.00001
|
|
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile)
|
rs773805575
|
0.00001
|
|
NM_016169.4(SUFU):c.135C>T (p.Tyr45=)
|
rs1342856960
|
0.00001
|
|
NM_016169.4(SUFU):c.1362G>A (p.Glu454=)
|
rs771380823
|
0.00001
|
|
NM_016169.4(SUFU):c.1365+13G>C
|
rs1370046167
|
0.00001
|
|
NM_016169.4(SUFU):c.1366-18T>C
|
rs778922691
|
0.00001
|
|
NM_016169.4(SUFU):c.1366-4A>G
|
rs201139426
|
0.00001
|
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
|
NM_016169.4(SUFU):c.1386C>T (p.Tyr462=)
|
rs2063824214
|
0.00001
|
|
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn)
|
rs147404195
|
0.00001
|
|
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)
|
rs948353979
|
0.00001
|
|
NM_016169.4(SUFU):c.1429G>A (p.Val477Met)
|
rs1060501117
|
0.00001
|
|
NM_016169.4(SUFU):c.1455G>A (p.Ter485=)
|
rs773021913
|
0.00001
|
|
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu)
|
rs1479128337
|
0.00001
|
|
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser)
|
rs200061483
|
0.00001
|
|
NM_016169.4(SUFU):c.178T>C (p.Tyr60His)
|
rs2062294197
|
0.00001
|
|
NM_016169.4(SUFU):c.180C>T (p.Tyr60=)
|
rs776945270
|
0.00001
|
|
NM_016169.4(SUFU):c.182+11G>A
|
rs766984305
|
0.00001
|
|
NM_016169.4(SUFU):c.182+8C>G
|
rs751208244
|
0.00001
|
|
NM_016169.4(SUFU):c.183-13T>G
|
rs749913059
|
0.00001
|
|
NM_016169.4(SUFU):c.217A>C (p.Met73Leu)
|
rs1183694060
|
0.00001
|
|
NM_016169.4(SUFU):c.252C>A (p.Ile84=)
|
rs1437282528
|
0.00001
|
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
|
NM_016169.4(SUFU):c.267C>T (p.His89=)
|
rs1236109627
|
0.00001
|
|
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp)
|
rs775491374
|
0.00001
|
|
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)
|
rs775491374
|
0.00001
|
|
NM_016169.4(SUFU):c.279C>T (p.Phe93=)
|
rs770218907
|
0.00001
|
|
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys)
|
rs1464640869
|
0.00001
|
|
NM_016169.4(SUFU):c.300T>A (p.Gly100=)
|
rs775876798
|
0.00001
|
|
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp)
|
rs1564657066
|
0.00001
|
|
NM_016169.4(SUFU):c.30C>T (p.Pro10=)
|
rs1315277679
|
0.00001
|
|
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys)
|
rs1040654062
|
0.00001
|
|
NM_016169.4(SUFU):c.317+15C>A
|
rs760470575
|
0.00001
|
|
NM_016169.4(SUFU):c.318-11A>C
|
rs1485269392
|
0.00001
|
|
NM_016169.4(SUFU):c.318-7C>G
|
rs751778806
|
0.00001
|
|
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp)
|
rs1188593672
|
0.00001
|
|
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala)
|
rs1425171528
|
0.00001
|
|
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)
|
rs1171604398
|
0.00001
|
|
NM_016169.4(SUFU):c.363C>A (p.Thr121=)
|
rs910976342
|
0.00001
|
|
NM_016169.4(SUFU):c.368G>A (p.Arg123His)
|
rs745958724
|
0.00001
|
|
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser)
|
rs768935165
|
0.00001
|
|
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)
|
rs1590019047
|
0.00001
|
|
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)
|
rs1060501109
|
0.00001
|
|
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln)
|
rs764847917
|
0.00001
|
|
NM_016169.4(SUFU):c.444G>A (p.Val148=)
|
rs757424197
|
0.00001
|
|
NM_016169.4(SUFU):c.454+11dup
|
rs756465918
|
0.00001
|
|
NM_016169.4(SUFU):c.45C>T (p.Pro15=)
|
rs767543227
|
0.00001
|
|
NM_016169.4(SUFU):c.477C>T (p.Asp159=)
|
rs2063415176
|
0.00001
|
|
NM_016169.4(SUFU):c.480T>C (p.His160=)
|
rs1308247295
|
0.00001
|
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
|
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg)
|
rs1489443369
|
0.00001
|
|
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser)
|
rs1207697890
|
0.00001
|
|
NM_016169.4(SUFU):c.561C>T (p.Pro187=)
|
rs769503197
|
0.00001
|
|
NM_016169.4(SUFU):c.562G>A (p.Val188Met)
|
rs1462013962
|
0.00001
|
|
NM_016169.4(SUFU):c.579G>A (p.Gly193=)
|
rs1590061953
|
0.00001
|
|
NM_016169.4(SUFU):c.591C>T (p.Phe197=)
|
rs748830496
|
0.00001
|
|
NM_016169.4(SUFU):c.597+12G>T
|
rs200418460
|
0.00001
|
|
NM_016169.4(SUFU):c.597+18C>T
|
rs761796540
|
0.00001
|
|
NM_016169.4(SUFU):c.598-12C>T
|
rs768142814
|
0.00001
|
|
NM_016169.4(SUFU):c.5C>T (p.Ala2Val)
|
rs1589969719
|
0.00001
|
|
NM_016169.4(SUFU):c.601G>A (p.Val201Ile)
|
rs147695965
|
0.00001
|
|
NM_016169.4(SUFU):c.602T>C (p.Val201Ala)
|
rs772840788
|
0.00001
|
|
NM_016169.4(SUFU):c.609C>T (p.Val203=)
|
rs1267238528
|
0.00001
|
|
NM_016169.4(SUFU):c.615T>C (p.Thr205=)
|
rs1187200623
|
0.00001
|
|
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu)
|
rs907135467
|
0.00001
|
|
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser)
|
rs1178631893
|
0.00001
|
|
NM_016169.4(SUFU):c.645C>T (p.Asn215=)
|
rs551772204
|
0.00001
|
|
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro)
|
rs1564654422
|
0.00001
|
|
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly)
|
rs761240106
|
0.00001
|
|
NM_016169.4(SUFU):c.683+12T>C
|
rs1164701799
|
0.00001
|
|
NM_016169.4(SUFU):c.683+17G>A
|
rs1027742260
|
0.00001
|
|
NM_016169.4(SUFU):c.684-12C>T
|
rs1211187751
|
0.00001
|
|
NM_016169.4(SUFU):c.684-9T>C
|
rs746032665
|
0.00001
|
|
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)
|
rs2062290972
|
0.00001
|
|
NM_016169.4(SUFU):c.690C>T (p.Gly230=)
|
rs775675385
|
0.00001
|
|
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser)
|
rs1457485957
|
0.00001
|
|
NM_016169.4(SUFU):c.693C>A (p.Gly231=)
|
rs200885602
|
0.00001
|
|
NM_016169.4(SUFU):c.726G>A (p.Glu242=)
|
rs1166474720
|
0.00001
|
|
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)
|
rs544734275
|
0.00001
|
|
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn)
|
rs1283509771
|
0.00001
|
|
NM_016169.4(SUFU):c.750C>A (p.His250Gln)
|
rs1235137905
|
0.00001
|
|
NM_016169.4(SUFU):c.753G>A (p.Leu251=)
|
rs2063435526
|
0.00001
|
|
NM_016169.4(SUFU):c.756+10G>C
|
rs764838079
|
0.00001
|
|
NM_016169.4(SUFU):c.756A>G (p.Gln252=)
|
rs1317467424
|
0.00001
|
|
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys)
|
rs775245784
|
0.00001
|
|
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser)
|
rs762258680
|
0.00001
|
|
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly)
|
rs772598822
|
0.00001
|
|
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)
|
rs761003435
|
0.00001
|
|
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu)
|
rs752387760
|
0.00001
|
|
NM_016169.4(SUFU):c.843C>T (p.Pro281=)
|
rs1590066015
|
0.00001
|
|
NM_016169.4(SUFU):c.845C>A (p.Pro282His)
|
rs2063472026
|
0.00001
|
|
NM_016169.4(SUFU):c.846C>T (p.Pro282=)
|
rs762558038
|
0.00001
|
|
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)
|
rs763598499
|
0.00001
|
|
NM_016169.4(SUFU):c.849G>A (p.Glu283=)
|
rs751057597
|
0.00001
|
|
NM_016169.4(SUFU):c.84G>T (p.Ser28=)
|
rs376752468
|
0.00001
|
|
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys)
|
rs564728455
|
0.00001
|
|
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr)
|
rs587778698
|
0.00001
|
|
NM_016169.4(SUFU):c.894G>T (p.Arg298=)
|
rs372636246
|
0.00001
|
|
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser)
|
rs1164574977
|
0.00001
|
|
NM_016169.4(SUFU):c.910+20A>G
|
rs1442018997
|
0.00001
|
|
NM_016169.4(SUFU):c.910+8C>G
|
rs1159461161
|
0.00001
|
|
NM_016169.4(SUFU):c.910+9C>T
|
rs998413406
|
0.00001
|
|
NM_016169.4(SUFU):c.911-19C>T
|
rs1053684007
|
0.00001
|
|
NM_016169.4(SUFU):c.933C>A (p.Thr311=)
|
rs767071744
|
0.00001
|
|
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)
|
rs141737156
|
0.00001
|
|
NM_016169.4(SUFU):c.948C>G (p.Leu316=)
|
rs1236947004
|
0.00001
|
|
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys)
|
rs535845342
|
0.00001
|
|
NM_016169.4(SUFU):c.967G>A (p.Val323Ile)
|
rs1420089970
|
0.00001
|
|
NM_016169.4(SUFU):c.96G>A (p.Pro32=)
|
rs1483435746
|
0.00001
|
|
NM_016169.4(SUFU):c.975A>G (p.Pro325=)
|
rs1045258578
|
0.00001
|
|
NM_016169.4(SUFU):c.979A>G (p.Ile327Val)
|
rs752846043
|
0.00001
|
|
NM_016169.4(SUFU):c.987T>C (p.Pro329=)
|
rs906267027
|
0.00001
|
|
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala)
|
rs1391787041
|
0.00001
|
|
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu)
|
rs747125633
|
0.00001
|
|
NM_016169.4(SUFU):c.9G>A (p.Glu3=)
|
rs561651427
|
0.00001
|
|
NM_024426.6(WT1):c.*1066T>G
|
rs936717004
|
0.00001
|
|
NM_024426.6(WT1):c.*611C>T
|
rs886048220
|
0.00001
|
|
NM_024426.6(WT1):c.*614A>C
|
rs886048219
|
0.00001
|
|
NM_024426.6(WT1):c.1008G>A (p.Gly336=)
|
rs1369099437
|
0.00001
|
|
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn)
|
rs748112905
|
0.00001
|
|
NM_024426.6(WT1):c.1016+4A>C
|
rs776489080
|
0.00001
|
|
NM_024426.6(WT1):c.1016+9A>G
|
rs772132710
|
0.00001
|
|
NM_024426.6(WT1):c.1017-19C>T
|
rs1398407708
|
0.00001
|
|
NM_024426.6(WT1):c.1029G>A (p.Gly343=)
|
rs752102247
|
0.00001
|
|
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys)
|
rs547783372
|
0.00001
|
|
NM_024426.6(WT1):c.1035G>A (p.Glu345=)
|
rs757962229
|
0.00001
|
|
NM_024426.6(WT1):c.1053G>A (p.Thr351=)
|
rs1260693060
|
0.00001
|
|
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro)
|
rs1362066206
|
0.00001
|
|
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp)
|
rs769934402
|
0.00001
|
|
NM_024426.6(WT1):c.109G>A (p.Gly37Arg)
|
rs1397886023
|
0.00001
|
|
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys)
|
rs150194429
|
0.00001
|
|
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)
|
rs544966826
|
0.00001
|
|
NM_024426.6(WT1):c.1113+20C>T
|
rs1852095690
|
0.00001
|
|
NM_024426.6(WT1):c.1113+5G>A
|
rs930795675
|
0.00001
|
|
NM_024426.6(WT1):c.1114-7C>A
|
rs1396821797
|
0.00001
|
|
NM_024426.6(WT1):c.1117G>A (p.Val373Met)
|
rs747377024
|
0.00001
|
|
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)
|
rs1423753702
|
0.00001
|
|
NM_024426.6(WT1):c.112G>C (p.Val38Leu)
|
rs1229949294
|
0.00001
|
|
NM_024426.6(WT1):c.1135G>A (p.Val379Ile)
|
rs755936509
|
0.00001
|
|
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp)
|
rs765218093
|
0.00001
|
|
NM_024426.6(WT1):c.115C>A (p.Arg39=)
|
rs763147828
|
0.00001
|
|
NM_024426.6(WT1):c.116G>A (p.Arg39Gln)
|
rs1590411426
|
0.00001
|
|
NM_024426.6(WT1):c.1198T>C (p.Tyr400His)
|
rs746353651
|
0.00001
|
|
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu)
|
rs1060501258
|
0.00001
|
|
NM_024426.6(WT1):c.120C>T (p.Asp40=)
|
rs1431129227
|
0.00001
|
|
NM_024426.6(WT1):c.1210A>C (p.Asn404His)
|
rs774976881
|
0.00001
|
|
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr)
|
rs748864758
|
0.00001
|
|
NM_024426.6(WT1):c.122C>T (p.Pro41Leu)
|
rs773550149
|
0.00001
|
|
NM_024426.6(WT1):c.1253G>T (p.Arg418Met)
|
rs373176048
|
0.00001
|
|
NM_024426.6(WT1):c.1278C>T (p.Tyr426=)
|
rs759955361
|
0.00001
|
|
NM_024426.6(WT1):c.1281G>A (p.Gln427=)
|
rs774650640
|
0.00001
|
|
NM_024426.6(WT1):c.133T>C (p.Trp45Arg)
|
rs1186470250
|
0.00001
|
|
NM_024426.6(WT1):c.1355-7C>T
|
rs767729335
|
0.00001
|
|
NM_024426.6(WT1):c.1371G>A (p.Gln457=)
|
rs546743811
|
0.00001
|
|
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu)
|
rs533043871
|
0.00001
|
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
|
NM_024426.6(WT1):c.1410C>T (p.His470=)
|
rs1450267173
|
0.00001
|
|
NM_024426.6(WT1):c.1434T>C (p.His478=)
|
rs761414130
|
0.00001
|
|
NM_024426.6(WT1):c.1447+20C>T
|
rs776384327
|
0.00001
|
|
NM_024426.6(WT1):c.1448-7T>C
|
rs1392191365
|
0.00001
|
|
NM_024426.6(WT1):c.1458C>A (p.Pro486=)
|
rs1220372055
|
0.00001
|
|
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln)
|
rs139893274
|
0.00001
|
|
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly)
|
rs776256676
|
0.00001
|
|
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg)
|
rs760370132
|
0.00001
|
|
NM_024426.6(WT1):c.149C>A (p.Ala50Asp)
|
rs967658170
|
0.00001
|
|
NM_024426.6(WT1):c.1513G>C (p.Val505Leu)
|
rs1399910889
|
0.00001
|
|
NM_024426.6(WT1):c.154G>A (p.Glu52Lys)
|
rs1212035248
|
0.00001
|
|
NM_024426.6(WT1):c.1554C>T (p.Leu518=)
|
rs267602848
|
0.00001
|
|
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter)
|
rs866837692
|
0.00001
|
|
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)
|
rs774228907
|
0.00001
|
|
NM_024426.6(WT1):c.1562C>T (p.Ala521Val)
|
rs749266841
|
0.00001
|
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00001
|
|
NM_024426.6(WT1):c.172C>G (p.Leu58Val)
|
rs1412425868
|
0.00001
|
|
NM_024426.6(WT1):c.186G>A (p.Arg62=)
|
rs1294714508
|
0.00001
|
|
NM_024426.6(WT1):c.195G>A (p.Gly65=)
|
rs1439699290
|
0.00001
|
|
NM_024426.6(WT1):c.200C>G (p.Ser67Cys)
|
rs1327516147
|
0.00001
|
|
NM_024426.6(WT1):c.202G>A (p.Gly68Arg)
|
rs1353446740
|
0.00001
|
|
NM_024426.6(WT1):c.211C>A (p.Pro71Thr)
|
rs1392405207
|
0.00001
|
|
NM_024426.6(WT1):c.223G>A (p.Gly75Ser)
|
rs528076586
|
0.00001
|
|
NM_024426.6(WT1):c.231C>A (p.Asp77Glu)
|
rs1193574882
|
0.00001
|
|
NM_024426.6(WT1):c.246C>T (p.Asn82=)
|
rs1205117425
|
0.00001
|
|
NM_024426.6(WT1):c.255G>A (p.Leu85=)
|
rs1239647129
|
0.00001
|
|
NM_024426.6(WT1):c.262G>A (p.Val88Ile)
|
rs1410971862
|
0.00001
|
|
NM_024426.6(WT1):c.26C>T (p.Pro9Leu)
|
rs948132360
|
0.00001
|
|
NM_024426.6(WT1):c.27G>A (p.Pro9=)
|
rs556835183
|
0.00001
|
|
NM_024426.6(WT1):c.284G>T (p.Gly95Val)
|
rs1454795891
|
0.00001
|
|
NM_024426.6(WT1):c.286G>A (p.Gly96Ser)
|
rs1060501254
|
0.00001
|
|
NM_024426.6(WT1):c.300T>A (p.Pro100=)
|
rs1255257323
|
0.00001
|
|
NM_024426.6(WT1):c.304A>G (p.Ser102Gly)
|
rs1336319420
|
0.00001
|
|
NM_024426.6(WT1):c.311C>G (p.Ala104Gly)
|
rs1044394214
|
0.00001
|
|
NM_024426.6(WT1):c.326C>G (p.Pro109Arg)
|
rs1853459569
|
0.00001
|
|
NM_024426.6(WT1):c.32C>G (p.Ser11Cys)
|
rs1412950681
|
0.00001
|
|
NM_024426.6(WT1):c.333G>T (p.Leu111=)
|
rs1853459139
|
0.00001
|
|
NM_024426.6(WT1):c.33C>T (p.Ser11=)
|
rs1352278629
|
0.00001
|
|
NM_024426.6(WT1):c.341C>A (p.Ala114Glu)
|
rs1311557029
|
0.00001
|
|
NM_024426.6(WT1):c.34A>C (p.Thr12Pro)
|
rs764111950
|
0.00001
|
|
NM_024426.6(WT1):c.350G>A (p.Gly117Asp)
|
rs939385459
|
0.00001
|
|
NM_024426.6(WT1):c.352G>C (p.Ala118Pro)
|
rs1253163678
|
0.00001
|
|
NM_024426.6(WT1):c.355T>C (p.Ser119Pro)
|
rs1187111469
|
0.00001
|
|
NM_024426.6(WT1):c.366G>A (p.Gly122=)
|
rs1362739411
|
0.00001
|
|
NM_024426.6(WT1):c.369G>C (p.Ser123=)
|
rs1485992444
|
0.00001
|
|
NM_024426.6(WT1):c.36G>T (p.Thr12=)
|
rs1313371480
|
0.00001
|
|
NM_024426.6(WT1):c.380C>G (p.Pro127Arg)
|
rs1387576357
|
0.00001
|
|
NM_024426.6(WT1):c.386C>A (p.Pro129Gln)
|
rs745435848
|
0.00001
|
|
NM_024426.6(WT1):c.392C>G (p.Pro131Arg)
|
rs1443423967
|
0.00001
|
|
NM_024426.6(WT1):c.404C>T (p.Pro135Leu)
|
rs769642496
|
0.00001
|
|
NM_024426.6(WT1):c.412C>T (p.Pro138Ser)
|
rs544477985
|
0.00001
|
|
NM_024426.6(WT1):c.429C>G (p.Ser143=)
|
rs531076591
|
0.00001
|
|
NM_024426.6(WT1):c.439C>G (p.Gln147Glu)
|
rs953087575
|
0.00001
|
|
NM_024426.6(WT1):c.440A>G (p.Gln147Arg)
|
rs764552529
|
0.00001
|
|
NM_024426.6(WT1):c.444G>A (p.Glu148=)
|
rs761166030
|
0.00001
|
|
NM_024426.6(WT1):c.459C>T (p.Gly153=)
|
rs1309250331
|
0.00001
|
|
NM_024426.6(WT1):c.468G>T (p.Pro156=)
|
rs961309280
|
0.00001
|
|
NM_024426.6(WT1):c.480G>A (p.Gln160=)
|
rs758900425
|
0.00001
|
|
NM_024426.6(WT1):c.489C>A (p.Ser163Arg)
|
rs908414065
|
0.00001
|
|
NM_024426.6(WT1):c.491C>T (p.Ala164Val)
|
rs1853443839
|
0.00001
|
|
NM_024426.6(WT1):c.499G>A (p.Val167Ile)
|
rs1474496518
|
0.00001
|
|
NM_024426.6(WT1):c.531C>T (p.Ala177=)
|
rs1354094843
|
0.00001
|
|
NM_024426.6(WT1):c.53C>T (p.Ala18Val)
|
rs1853481284
|
0.00001
|
|
NM_024426.6(WT1):c.549G>A (p.Gly183=)
|
rs1199167878
|
0.00001
|
|
NM_024426.6(WT1):c.54G>A (p.Ala18=)
|
rs1409626312
|
0.00001
|
|
NM_024426.6(WT1):c.566C>T (p.Pro189Leu)
|
rs745879965
|
0.00001
|
|
NM_024426.6(WT1):c.584C>G (p.Ser195Cys)
|
rs778194188
|
0.00001
|
|
NM_024426.6(WT1):c.585C>T (p.Ser195=)
|
rs1332888095
|
0.00001
|
|
NM_024426.6(WT1):c.588C>A (p.Gly196=)
|
rs1853436844
|
0.00001
|
|
NM_024426.6(WT1):c.595A>G (p.Arg199Gly)
|
rs1307678573
|
0.00001
|
|
NM_024426.6(WT1):c.619C>T (p.Leu207=)
|
rs1060504180
|
0.00001
|
|
NM_024426.6(WT1):c.620T>G (p.Leu207Arg)
|
rs1258754686
|
0.00001
|
|
NM_024426.6(WT1):c.627C>G (p.Ser209Arg)
|
rs761530541
|
0.00001
|
|
NM_024426.6(WT1):c.641A>C (p.Gln214Pro)
|
rs771024882
|
0.00001
|
|
NM_024426.6(WT1):c.646G>A (p.Ala216Thr)
|
rs778069787
|
0.00001
|
|
NM_024426.6(WT1):c.650T>G (p.Ile217Ser)
|
rs1853431800
|
0.00001
|
|
NM_024426.6(WT1):c.658C>A (p.Gln220Lys)
|
rs373935628
|
0.00001
|
|
NM_024426.6(WT1):c.661+8G>A
|
rs1313565005
|
0.00001
|
|
NM_024426.6(WT1):c.662-17C>T
|
rs776846827
|
0.00001
|
|
NM_024426.6(WT1):c.662-19C>T
|
rs761813691
|
0.00001
|
|
NM_024426.6(WT1):c.662-5C>T
|
rs780259089
|
0.00001
|
|
NM_024426.6(WT1):c.662G>A (p.Gly221Asp)
|
rs369444006
|
0.00001
|
|
NM_024426.6(WT1):c.672G>C (p.Thr224=)
|
rs756695525
|
0.00001
|
|
NM_024426.6(WT1):c.685G>A (p.Gly229Arg)
|
rs767419243
|
0.00001
|
|
NM_024426.6(WT1):c.691C>T (p.Pro231Ser)
|
rs766425764
|
0.00001
|
|
NM_024426.6(WT1):c.710C>T (p.Pro237Leu)
|
rs760776653
|
0.00001
|
|
NM_024426.6(WT1):c.71G>A (p.Arg24His)
|
rs1330792627
|
0.00001
|
|
NM_024426.6(WT1):c.724G>A (p.Ala242Thr)
|
rs1590395740
|
0.00001
|
|
NM_024426.6(WT1):c.741C>T (p.His247=)
|
rs1050903370
|
0.00001
|
|
NM_024426.6(WT1):c.75C>T (p.Ser25=)
|
rs1417997475
|
0.00001
|
|
NM_024426.6(WT1):c.761C>T (p.Pro254Leu)
|
rs1213160959
|
0.00001
|
|
NM_024426.6(WT1):c.763A>G (p.Met255Val)
|
rs142653301
|
0.00001
|
|
NM_024426.6(WT1):c.76G>A (p.Gly26Arg)
|
rs1189241211
|
0.00001
|
|
NM_024426.6(WT1):c.771G>T (p.Gln257His)
|
rs1853140764
|
0.00001
|
|
NM_024426.6(WT1):c.777C>T (p.Gly259=)
|
rs1395854761
|
0.00001
|
|
NM_024426.6(WT1):c.77G>A (p.Gly26Glu)
|
rs1484558172
|
0.00001
|
|
NM_024426.6(WT1):c.780G>T (p.Ser260=)
|
rs1403311573
|
0.00001
|
|
NM_024426.6(WT1):c.784+17A>G
|
rs1458877359
|
0.00001
|
|
NM_024426.6(WT1):c.803T>G (p.Val268Gly)
|
rs765230888
|
0.00001
|
|
NM_024426.6(WT1):c.810C>A (p.Pro270=)
|
rs1357760274
|
0.00001
|
|
NM_024426.6(WT1):c.815T>C (p.Val272Ala)
|
rs1298646630
|
0.00001
|
|
NM_024426.6(WT1):c.819T>C (p.Tyr273=)
|
rs766642594
|
0.00001
|
|
NM_024426.6(WT1):c.81T>C (p.Pro27=)
|
rs755007049
|
0.00001
|
|
NM_024426.6(WT1):c.832C>G (p.Pro278Ala)
|
rs773527284
|
0.00001
|
|
NM_024426.6(WT1):c.83G>A (p.Gly28Glu)
|
rs751641518
|
0.00001
|
|
NM_024426.6(WT1):c.846C>T (p.Cys282=)
|
rs1281989931
|
0.00001
|
|
NM_024426.6(WT1):c.850G>A (p.Gly284Ser)
|
rs1271732325
|
0.00001
|
|
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr)
|
rs992227366
|
0.00001
|
|
NM_024426.6(WT1):c.887+11G>T
|
rs1286407878
|
0.00001
|
|
NM_024426.6(WT1):c.887+19C>G
|
rs755113185
|
0.00001
|
|
NM_024426.6(WT1):c.887+7A>G
|
rs1301545818
|
0.00001
|
|
NM_024426.6(WT1):c.945C>T (p.Asn315=)
|
rs775085343
|
0.00001
|
|
NM_024426.6(WT1):c.965+11C>A
|
rs905888905
|
0.00001
|
|
NM_024426.6(WT1):c.965+1G>A
|
rs771527206
|
0.00001
|
|
NM_024426.6(WT1):c.966-16T>A
|
rs1224574539
|
0.00001
|
|
NM_024426.6(WT1):c.966-17C>T
|
rs1247254852
|
0.00001
|
|
NM_024426.6(WT1):c.966-19A>T
|
rs1488183155
|
0.00001
|
|
NM_024426.6(WT1):c.973G>A (p.Ala325Thr)
|
rs1712081462
|
0.00001
|
|
NM_024426.6(WT1):c.977G>C (p.Gly326Ala)
|
rs766054482
|
0.00001
|
|
NM_024426.6(WT1):c.980G>A (p.Ser327Asn)
|
rs1308955642
|
0.00001
|
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
|
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys)
|
rs1555610947
|
0.00001
|
|
NM_177438.3(DICER1):c.-5G>A
|
rs747383554
|
0.00001
|
|
NM_177438.3(DICER1):c.1117G>C (p.Val373Leu)
|
rs369145814
|
0.00001
|
|
NM_177438.3(DICER1):c.128C>T (p.Thr43Met)
|
rs367797765
|
0.00001
|
|
NM_177438.3(DICER1):c.1733C>G (p.Thr578Ser)
|
rs1060503586
|
0.00001
|
|
NM_177438.3(DICER1):c.1770T>C (p.Cys590=)
|
rs777355058
|
0.00001
|
|
NM_177438.3(DICER1):c.1967G>A (p.Arg656Gln)
|
rs766707302
|
0.00001
|
|
NM_177438.3(DICER1):c.2050A>G (p.Met684Val)
|
rs142300389
|
0.00001
|
|
NM_177438.3(DICER1):c.2449C>G (p.Pro817Ala)
|
rs774540239
|
0.00001
|
|
NM_177438.3(DICER1):c.2553G>A (p.Gln851=)
|
rs373715574
|
0.00001
|
|
NM_177438.3(DICER1):c.263A>T (p.Asp88Val)
|
rs775828379
|
0.00001
|
|
NM_177438.3(DICER1):c.2718C>T (p.Arg906=)
|
rs370692165
|
0.00001
|
|
NM_177438.3(DICER1):c.2732G>A (p.Ser911Asn)
|
rs771697618
|
0.00001
|
|
NM_177438.3(DICER1):c.2752A>T (p.Thr918Ser)
|
rs377326167
|
0.00001
|
|
NM_177438.3(DICER1):c.3229G>A (p.Asp1077Asn)
|
rs373412959
|
0.00001
|
|
NM_177438.3(DICER1):c.3269+12C>T
|
rs775380766
|
0.00001
|
|
NM_177438.3(DICER1):c.3456C>G (p.Asn1152Lys)
|
rs1595366928
|
0.00001
|
|
NM_177438.3(DICER1):c.3631G>A (p.Val1211Met)
|
rs764470378
|
0.00001
|
|
NM_177438.3(DICER1):c.3637C>G (p.Pro1213Ala)
|
rs965289045
|
0.00001
|
|
NM_177438.3(DICER1):c.3778G>A (p.Val1260Ile)
|
rs763425076
|
0.00001
|
|
NM_177438.3(DICER1):c.3827A>G (p.Asp1276Gly)
|
rs758636143
|
0.00001
|
|
NM_177438.3(DICER1):c.4412C>T (p.Pro1471Leu)
|
rs1060503657
|
0.00001
|
|
NM_177438.3(DICER1):c.4675A>G (p.Ile1559Val)
|
rs377409989
|
0.00001
|
|
NM_177438.3(DICER1):c.4991C>T (p.Ser1664Leu)
|
rs988095775
|
0.00001
|
|
NM_177438.3(DICER1):c.920G>A (p.Arg307His)
|
rs149718671
|
0.00001
|
|
NM_177438.3(DICER1):c.925G>A (p.Val309Ile)
|
rs1181141404
|
0.00001
|
|
GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3
|
|
|
|
NC_000002.11:g.(?_29119585)_(29420552_?)dup
|
|
|
|
NC_000002.11:g.(?_29119585)_(29450548_?)dup
|
|
|
|
NC_000002.11:g.(?_29119585)_(30143525_?)dup
|
|
|
|
NC_000002.11:g.(?_29416084)_(29754988_?)dup
|
|
|
|
NC_000002.11:g.(?_29416090)_(29416798_?)del
|
|
|
|
NC_000002.11:g.(?_29416090)_(29430148_?)del
|
|
|
|
NC_000002.11:g.(?_29416090)_(29474143_?)dup
|
|
|
|
NC_000002.11:g.(?_29416090)_(29551357_?)del
|
|
|
|
NC_000002.11:g.(?_29416090)_(29606735_?)dup
|
|
|
|
NC_000002.11:g.(?_29416090)_(30143525_?)dup
|
|
|
|
NC_000002.11:g.(?_29419616)_(29420562_?)del
|
|
|
|
NC_000002.11:g.(?_29419626)_(29419736_?)del
|
|
|
|
NC_000002.11:g.(?_29430027)_(29754992_?)dup
|
|
|
|
NC_000002.11:g.(?_29436891)_(29440263_?)del
|
|
|
|
NC_000002.11:g.(?_29443562)_(29448441_?)del
|
|
|
|
NC_000002.11:g.(?_29450430)_(29450548_?)del
|
|
|
|
NC_000002.11:g.(?_29455160)_(29456572_?)del
|
|
|
|
NC_000002.11:g.(?_29462536)_(29462706_?)del
|
|
|
|
NC_000002.11:g.(?_29473961)_(29474143_?)del
|
|
|
|
NC_000002.11:g.(?_29497955)_(29606735_?)dup
|
|
|
|
NC_000002.11:g.(?_29519734)_(29606745_?)dup
|
|
|
|
NC_000002.11:g.(?_29519744)_(29519933_?)del
|
|
|
|
NC_000002.11:g.(?_29541150)_(29541290_?)dup
|
|
|
|
NC_000002.11:g.(?_29541160)_(29551357_?)del
|
|
|
|
NC_000002.11:g.(?_29541160)_(29606735_?)dup
|
|
|
|
NC_000002.11:g.(?_29551196)_(29940583_?)dup
|
|
|
|
NC_000002.11:g.(?_29551206)_(29551357_?)del
|
|
|
|
NC_000002.11:g.(?_29606588)_(29940573_?)del
|
|
|
|
NC_000002.11:g.(?_29754761)_(29755002_?)dup
|
|
|
|
NC_000002.11:g.(?_29754771)_(29754992_?)del
|
|
|
|
NC_000002.11:g.(?_29754771)_(29754992_?)dup
|
|
|
|
NC_000002.11:g.(?_29754771)_(30143525_?)dup
|
|
|
|
NC_000002.11:g.(?_29917706)_(29940573_?)del
|
|
|
|
NC_000002.11:g.(?_29917706)_(29940573_?)dup
|
|
|
|
NC_000002.11:g.(?_30142849)_(30143525_?)del
|
|
|
|
NC_000002.11:g.(?_30142849)_(30143535_?)dup
|
|
|
|
NC_000002.11:g.(?_30142853)_(30143531_?)dup
|
|
|
|
NC_000002.11:g.(?_30143165)_(30144434_?)del
|
|
|
|
NC_000002.12:g.(?_29193218)_(29239836_?)dup
|
|
|
|
NC_000002.12:g.(?_29193224)_(29193932_?)dup
|
|
|
|
NC_000002.12:g.(?_29196760)_(29717707_?)del
|
|
|
|
NC_000002.12:g.(?_29222334)_(29275506_?)del
|
|
|
|
NC_000002.12:g.(?_29717568)_(29717707_?)del
|
|
|
|
NC_000002.12:g.(?_29919983)_(29920659_?)dup
|
|
|
|
NC_000002.12:g.29207270_29207273del
|
rs1669336181
|
|
|
NC_000002.12:g.29695015del
|
|
|
|
NC_000010.10:g.(?_104262628)_(104309873_?)dup
|
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)del
|
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)dup
|
|
|
|
NC_000010.10:g.(?_104263900)_(104389922_?)del
|
|
|
|
NC_000010.10:g.(?_104263910)_(104269080_?)dup
|
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|
|
NC_000010.10:g.(?_104263910)_(104389912_?)del
|
|
|
|
NC_000010.10:g.(?_104268906)_(104269080_?)del
|
|
|
|
NC_000010.10:g.(?_104352329)_(104352491_?)del
|
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|
|
NC_000010.10:g.(?_104352329)_(104353832_?)del
|
|
|
|
NC_000010.10:g.(?_104352329)_(104377195_?)dup
|
|
|
|
NC_000010.10:g.(?_104356887)_(104389912_?)del
|
|
|
|
NC_000010.10:g.(?_104375015)_(104389912_?)del
|
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|
|
NC_000010.10:g.(?_104375015)_(104392580_?)dup
|
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|
|
NC_000010.10:g.(?_104376609)_(104386730_?)del
|
|
|
|
NC_000010.10:g.(?_104386922)_(104392580_?)del
|
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|
|
NC_000010.11:g.(102444036_?)_(?_104726221)del
|
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|
|
NC_000010.11:g.(?_102504143)_(102550116_?)del
|
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|
|
NC_000010.11:g.(?_102549960)_(102550116_?)del
|
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|
NC_000010.11:g.(?_102593630)_(102597299_?)del
|
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|
|
NC_000011.10:g.(?_32389048)_(32435355_?)del
|
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|
NC_000011.10:g.(?_32389058)_(32435345_?)del
|
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|
NC_000011.10:g.(?_32396247)_(32400054_?)del
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|
NC_000011.10:g.(?_32396251)_(32417660_?)del
|
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|
NC_000011.10:g.(?_32416480)_(32417664_?)del
|
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|
|
NC_000011.10:g.(?_32434690)_(32435345_?)del
|
|
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|
NC_000011.10:g.32396408del
|
rs2132942367
|
|
|
NC_000011.9:g.(?_31284590)_(32456911_?)del
|
|
|
|
NC_000011.9:g.(?_32409321)_(32457085_?)del
|
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|
|
NC_000011.9:g.(?_32410594)_(32421600_?)dup
|
|
|
|
NC_000011.9:g.(?_32410601)_(32414311_?)dup
|
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|
|
NC_000011.9:g.(?_32410601)_(32421600_?)del
|
|
|
|
NC_000011.9:g.(?_32410604)_(32410745_?)dup
|
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|
|
NC_000011.9:g.(?_32410604)_(32460464_?)del
|
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|
|
NC_000011.9:g.(?_32421474)_(32439220_?)del
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|
NC_000011.9:g.(?_32421484)_(32421600_?)del
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|
NC_000011.9:g.(?_32438026)_(32438096_?)del
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|
NC_000011.9:g.(?_32438026)_(32460464_?)del
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|
NC_000011.9:g.(?_32449492)_(32450175_?)del
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|
|
NC_000011.9:g.(?_32456236)_(32460464_?)del
|
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|
|
NC_000011.9:g.(?_32456236)_(32460464_?)dup
|
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|
|
NC_000013.11:g.32396899_32396902delinsTAAG
|
rs1566260060
|
|
|
NC_000019.10:g.(?_10984121)_(11062282_?)del
|
|
|
|
NC_000019.10:g.(?_10984142)_(11061826_?)dup
|
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|
NC_000019.10:g.(?_10986179)_(11061826_?)dup
|
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|
|
NC_000019.10:g.(?_11007892)_(11061826_?)dup
|
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|
NC_000019.10:g.(?_11018947)_(11030903_?)del
|
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|
NC_000019.10:g.(?_11018951)_(11030899_?)del
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|
NC_000019.10:g.(?_11039458)_(11039553_?)del
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|
NC_000019.10:g.(?_11041297)_(11061826_?)del
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|
NC_000019.9:g.(?_11094818)_(11107066_?)dup
|
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|
NC_000019.9:g.(?_11094822)_(11172498_?)del
|
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|
NC_000019.9:g.(?_11094828)_(11100129_?)dup
|
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|
NC_000019.9:g.(?_11094828)_(11114083_?)del
|
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|
NC_000019.9:g.(?_11094828)_(11129709_?)del
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NC_000019.9:g.(?_11094828)_(11135124_?)dup
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|
NC_000019.9:g.(?_11094828)_(11137032_?)dup
|
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NC_000019.9:g.(?_11094828)_(11152246_?)del
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|
NC_000019.9:g.(?_11094828)_(11152246_?)dup
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|
NC_000019.9:g.(?_11094828)_(11172492_?)del
|
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NC_000019.9:g.(?_11094828)_(11373116_?)dup
|
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NC_000019.9:g.(?_11098332)_(11105687_?)del
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NC_000019.9:g.(?_11099983)_(11102009_?)del
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NC_000019.9:g.(?_11101816)_(11152246_?)del
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NC_000019.9:g.(?_11105494)_(11172492_?)dup
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NC_000019.9:g.(?_11106879)_(11107230_?)del
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NC_000019.9:g.(?_11106879)_(11172492_?)dup
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NC_000019.9:g.(?_11106879)_(11172502_?)dup
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NC_000019.9:g.(?_11113695)_(11172492_?)dup
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NC_000019.9:g.(?_11118568)_(11118709_?)del
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NC_000019.9:g.(?_11118568)_(11172492_?)del
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NC_000019.9:g.(?_11118568)_(11172492_?)dup
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NC_000019.9:g.(?_11121047)_(11136194_?)del
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NC_000019.9:g.(?_11121047)_(11172492_?)dup
|
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|
NC_000019.9:g.(?_11129613)_(11172492_?)dup
|
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NC_000019.9:g.(?_11134174)_(11144896_?)dup
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NC_000019.9:g.(?_11136088)_(11172492_?)dup
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NC_000019.9:g.(?_11138450)_(11141579_?)del
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NC_000019.9:g.(?_11138450)_(11172492_?)dup
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NC_000019.9:g.(?_11150114)_(11150249_?)del
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NC_000019.9:g.(?_11168921)_(11169575_?)dup
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NC_000019.9:g.(?_11168921)_(11172492_?)del
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NC_000019.9:g.(?_11168925)_(11172498_?)dup
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NC_000019.9:g.(?_11172454)_(11172498_?)dup
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NC_000022.10:g.(?_24133937)_(24176373_?)dup
|
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|
NC_000022.10:g.(?_24143125)_(24176373_?)dup
|
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|
NC_000022.10:g.24171601-(24180196_?)
|
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|
NC_000022.11:g.(?_23787164)_(23834186_?)del
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NC_000022.11:g.(?_23793553)_(23793694_?)del
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NC_000022.11:g.(?_23833566)_(23834186_?)del
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NC_000023.10:g.(?_132670132)_(132888223_?)del
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NC_000023.10:g.(?_132670132)_(133119496_?)del
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NC_000023.10:g.(?_132670146)_(132670327_?)del
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NC_000023.10:g.(?_132670146)_(133119482_?)del
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|
NC_000023.10:g.(?_132670146)_(133119482_?)dup
|
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|
NC_000023.10:g.(?_132670152)_(132670341_?)del
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NC_000023.10:g.(?_132670152)_(132730637_?)del
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NC_000023.10:g.(?_132670152)_(132795898_?)del
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NC_000023.10:g.(?_132670152)_(132826532_?)dup
|
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|
NC_000023.10:g.(?_132670152)_(132888213_?)del
|
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|
NC_000023.10:g.(?_132670152)_(132888213_?)dup
|
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NC_000023.10:g.(?_132670152)_(132888223_?)dup
|
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|
NC_000023.10:g.(?_132670152)_(133119476_?)del
|
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|
NC_000023.10:g.(?_132670152)_(133119476_?)dup
|
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|
|
NC_000023.10:g.(?_132670152)_(133634107_?)del
|
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|
NC_000023.10:g.(?_132730458)_(132834066_?)dup
|
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|
NC_000023.10:g.(?_132730458)_(133119476_?)dup
|
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|
NC_000023.10:g.(?_132795738)_(132795898_?)dup
|
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|
NC_000023.10:g.(?_132795738)_(133119496_?)del
|
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|
NC_000023.10:g.(?_132795748)_(132834066_?)del
|
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|
NC_000023.10:g.(?_132795748)_(133119476_?)dup
|
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|
NC_000023.10:g.(?_132795752)_(132888209_?)del
|
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|
NC_000023.10:g.(?_132795758)_(132888203_?)del
|
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|
NC_000023.10:g.(?_132833913)_(132834066_?)del
|
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|
NC_000023.10:g.(?_132838213)_(132888223_?)del
|
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|
NC_000023.10:g.(?_132887489)_(132888223_?)dup
|
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|
NC_000023.10:g.(?_132887499)_(132888213_?)dup
|
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|
|
NC_000023.10:g.(?_133087067)_(133119486_?)dup
|
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|
NC_000023.10:g.(?_133119282)_(133119476_?)del
|
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|
NC_000023.10:g.(?_133119292)_(133119476_?)dup
|
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|
NC_000023.11:g.(?_133536124)_(133536303_?)dup
|
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|
NC_000023.11:g.(?_133753472)_(133754186_?)del
|
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|
NC_000023.11:g.(?_133953040)_(133985449_?)dup
|
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|
|
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)
|
rs2149898263
|
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
|
NM_000059.4(BRCA2):c.10030C>G (p.Leu3344Val)
|
rs377155248
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
|
NM_000059.4(BRCA2):c.10159A>G (p.Thr3387Ala)
|
rs786202571
|
|
|
NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys)
|
rs1555281730
|
|
|
NM_000059.4(BRCA2):c.1133G>A (p.Ser378Asn)
|
rs1593892009
|
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
|
NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter)
|
rs778142232
|
|
|
NM_000059.4(BRCA2):c.1394_1403del (p.Val465fs)
|
|
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
|
NM_000059.4(BRCA2):c.1490C>T (p.Ser497Leu)
|
rs1064794018
|
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
|
NM_000059.4(BRCA2):c.1762delinsTTT (p.Asn588fs)
|
|
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
|
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)
|
rs587782780
|
|
|
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala)
|
rs2137483648
|
|
|
NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter)
|
rs1007336407
|
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
|
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter)
|
rs398122742
|
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
|
NM_000059.4(BRCA2):c.2259del (p.Gln754fs)
|
rs397507621
|
|
|
NM_000059.4(BRCA2):c.2279del (p.Leu760fs)
|
rs886038071
|
|
|
NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp)
|
rs276174821
|
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.2620A>G (p.Thr874Ala)
|
rs1593897363
|
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
|
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro)
|
rs730881516
|
|
|
NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter)
|
rs886038080
|
|
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
|
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs)
|
rs80359371
|
|
|
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)
|
rs80359374
|
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
|
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
|
|
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
|
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)
|
rs80358588
|
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
|
NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter)
|
rs886040486
|
|
|
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
|
|
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
|
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg)
|
rs777895333
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3999C>G (p.Asn1333Lys)
|
rs80358649
|
|
|
NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
|
NM_000059.4(BRCA2):c.4263del (p.Phe1421fs)
|
|
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
|
NM_000059.4(BRCA2):c.4400A>G (p.His1467Arg)
|
rs1555283765
|
|
|
NM_000059.4(BRCA2):c.4410_4412delinsCAT (p.Arg1471Ile)
|
rs786202031
|
|
|
NM_000059.4(BRCA2):c.4424T>C (p.Met1475Thr)
|
rs2072503948
|
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
|
NM_000059.4(BRCA2):c.4516T>C (p.Phe1506Leu)
|
rs876659011
|
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
|
NM_000059.4(BRCA2):c.4611A>C (p.Glu1537Asp)
|
rs786202313
|
|
|
NM_000059.4(BRCA2):c.4613C>T (p.Ser1538Phe)
|
rs754643404
|
|
|
NM_000059.4(BRCA2):c.4700T>G (p.Leu1567Arg)
|
|
|
|
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)
|
rs80359463
|
|
|
NM_000059.4(BRCA2):c.475+4T>C
|
rs746963311
|
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
|
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4871C>T (p.Thr1624Ile)
|
|
|
|
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)
|
rs80358712
|
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
|
NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg)
|
rs786201420
|
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
|
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)
|
rs398122792
|
|
|
NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala)
|
rs786202836
|
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
|
NM_000059.4(BRCA2):c.5319_5342del (p.Glu1773_Glu1780del)
|
rs1593905133
|
|
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
rs80358757
|
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala)
|
rs786202394
|
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
|
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)
|
rs80358785
|
|
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
rs786202618
|
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
|
NM_000059.4(BRCA2):c.5789del (p.Leu1930fs)
|
rs397507806
|
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
rs80358828
|
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
|
NM_000059.4(BRCA2):c.613_614del (p.Ser205fs)
|
rs1566219362
|
|
|
NM_000059.4(BRCA2):c.6145G>A (p.Val2049Met)
|
rs1276100299
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
|
NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)
|
rs763639231
|
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
|
NM_000059.4(BRCA2):c.6451G>T (p.Val2151Phe)
|
|
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
|
NM_000059.4(BRCA2):c.6587A>G (p.Lys2196Arg)
|
rs1555284764
|
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
|
NM_000059.4(BRCA2):c.6611del (p.Pro2204fs)
|
rs1135401915
|
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
|
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)
|
rs758379999
|
|
|
NM_000059.4(BRCA2):c.6744dup (p.Ala2249fs)
|
|
|
|
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
|
|
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
|
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe)
|
rs786202214
|
|
|
NM_000059.4(BRCA2):c.6841+28T>G
|
|
|
|
NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly)
|
rs2137537213
|
|
|
NM_000059.4(BRCA2):c.6938-6_6938-3del
|
rs1566237728
|
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
|
NM_000059.4(BRCA2):c.7402dup (p.Val2468fs)
|
|
|
|
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)
|
rs397507915
|
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
|
NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala)
|
rs587782676
|
|
|
NM_000059.4(BRCA2):c.758G>A (p.Ser253Asn)
|
rs1593890321
|
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
|
NM_000059.4(BRCA2):c.7618-16T>G
|
rs397507924
|
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
NM_000059.4(BRCA2):c.7661G>A (p.Ser2554Asn)
|
rs398122588
|
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
|
NM_000059.4(BRCA2):c.7894G>A (p.Ala2632Thr)
|
rs1555286844
|
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
|
NM_000059.4(BRCA2):c.8068G>A (p.Val2690Ile)
|
rs587776471
|
|
|
NM_000059.4(BRCA2):c.8123C>T (p.Thr2708Ile)
|
rs1566245492
|
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)
|
rs730881615
|
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)
|
rs276174907
|
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8528del (p.Asn2843fs)
|
rs397507989
|
|
|
NM_000059.4(BRCA2):c.8535A>C (p.Arg2845Ser)
|
|
|
|
NM_000059.4(BRCA2):c.8579del (p.Lys2860fs)
|
rs80359719
|
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
|
NM_000059.4(BRCA2):c.8791A>G (p.Asn2931Asp)
|
rs895758995
|
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
|
NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met)
|
rs1064793691
|
|
|
NM_000059.4(BRCA2):c.8875G>A (p.Glu2959Lys)
|
rs786202920
|
|
|
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala)
|
rs876658955
|
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
|
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp)
|
rs80359153
|
|
|
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
|
|
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
|
NM_000059.4(BRCA2):c.9350A>G (p.His3117Arg)
|
rs80359206
|
|
|
NM_000059.4(BRCA2):c.9391T>C (p.Ser3131Pro)
|
rs398122613
|
|
|
NM_000059.4(BRCA2):c.9403del
|
rs80359760
|
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
|
NM_000059.4(BRCA2):c.9946G>A (p.Glu3316Lys)
|
rs758051959
|
|
|
NM_000123.4(ERCC5):c.1081del (p.Leu361fs)
|
rs2140527110
|
|
|
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)
|
rs1216426444
|
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
|
NM_000137.4(FAH):c.506C>T (p.Ser169Phe)
|
rs2142097943
|
|
|
NM_000179.3(MSH6):c.2722G>T (p.Glu908Ter)
|
rs886056144
|
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
|
NM_000214.3(JAG1):c.3445_3448del (p.Ile1149fs)
|
|
|
|
NM_000245.4(MET):c.985C>A (p.Leu329Ile)
|
rs1554378983
|
|
|
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu)
|
rs63750285
|
|
|
NM_000264.5(PTCH1):c.2244del (p.Ala749fs)
|
rs1564032829
|
|
|
NM_000368.5(TSC1):c.2488C>G (p.Gln830Glu)
|
rs1564475884
|
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
|
NM_000548.5(TSC2):c.3284+1G>T
|
rs45517289
|
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
|
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)
|
rs1858937359
|
|
|
NM_001005498.4(RHBDF2):c.269G>A (p.Arg90His)
|
rs368409953
|
|
|
NM_001015877.2(PHF6):c.119C>A (p.Ala40Glu)
|
rs1556013242
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
|
NM_001042492.3(NF1):c.7186A>T (p.Lys2396Ter)
|
rs1597851489
|
|
|
NM_001048174.2(MUTYH):c.572C>T (p.Thr191Ile)
|
rs2149150096
|
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
|
NM_001127208.3(TET2):c.4456T>C (p.Ser1486Pro)
|
rs1553918194
|
|
|
NM_001128849.1(SMARCA4):c.1524_1525inv (p.Ala509Thr)
|
|
|
|
NM_001128849.1(SMARCA4):c.2010_2012delGGA
|
rs759896283
|
|
|
NM_001128849.1(SMARCA4):c.3874delG
|
|
|
|
NM_001356.5(DDX3X):c.1033G>C (p.Val345Leu)
|
rs1555953796
|
|
|
NM_001356.5(DDX3X):c.1588G>T (p.Gly530Cys)
|
rs1555954272
|
|
|
NM_001356.5(DDX3X):c.1592G>A (p.Arg531His)
|
rs1555954275
|
|
|
NM_001365951.3(KIF1B):c.*1224C>T
|
rs998980655
|
|
|
NM_001365951.3(KIF1B):c.*1363dup
|
rs567435289
|
|
|
NM_001365951.3(KIF1B):c.*187T>G
|
rs1638901228
|
|
|
NM_001365951.3(KIF1B):c.*1999G>T
|
rs886044998
|
|
|
NM_001365951.3(KIF1B):c.*249CA[13]
|
rs111663673
|
|
|
NM_001365951.3(KIF1B):c.*249CA[14]
|
rs111663673
|
|
|
NM_001365951.3(KIF1B):c.*249CA[15]
|
rs111663673
|
|
|
NM_001365951.3(KIF1B):c.*249CA[17]
|
rs111663673
|
|
|
NM_001365951.3(KIF1B):c.*249CA[18]
|
rs111663673
|
|
|
NM_001365951.3(KIF1B):c.*249CA[19]
|
rs111663673
|
|
|
NM_001365951.3(KIF1B):c.*2687G>A
|
rs886045001
|
|
|
NM_001365951.3(KIF1B):c.*2740C>A
|
rs144047666
|
|
|
NM_001365951.3(KIF1B):c.*2798C>T
|
rs369817908
|
|
|
NM_001365951.3(KIF1B):c.*281_*282dup
|
rs886044986
|
|
|
NM_001365951.3(KIF1B):c.*281_*286del
|
rs886044990
|
|
|
NM_001365951.3(KIF1B):c.*2978dup
|
rs145348144
|
|
|
NM_001365951.3(KIF1B):c.*305C>T
|
rs886044992
|
|
|
NM_001365951.3(KIF1B):c.*3202C>A
|
rs886045008
|
|
|
NM_001365951.3(KIF1B):c.*3352G>C
|
rs567769024
|
|
|
NM_001365951.3(KIF1B):c.*3618C>G
|
rs1638986532
|
|
|
NM_001365951.3(KIF1B):c.*375A>G
|
rs554239975
|
|
|
NM_001365951.3(KIF1B):c.*3857G>A
|
rs536529721
|
|
|
NM_001365951.3(KIF1B):c.*3958A>G
|
rs886045010
|
|
|
NM_001365951.3(KIF1B):c.*4127dup
|
rs548680591
|
|
|
NM_001365951.3(KIF1B):c.*4279dup
|
rs531640427
|
|
|
NM_001365951.3(KIF1B):c.*4296T>C
|
rs886045013
|
|
|
NM_001365951.3(KIF1B):c.*454CT[1]
|
rs886044993
|
|
|
NM_001365951.3(KIF1B):c.*4613G>A
|
rs886045014
|
|
|
NM_001365951.3(KIF1B):c.*4648T>C
|
rs1639015374
|
|
|
NM_001365951.3(KIF1B):c.*4664_*4665insG
|
rs571589510
|
|
|
NM_001365951.3(KIF1B):c.*4742C>A
|
rs775958997
|
|
|
NM_001365951.3(KIF1B):c.*858C>G
|
rs1638918750
|
|
|
NM_001365951.3(KIF1B):c.-26TA[7]
|
rs34063243
|
|
|
NM_001365951.3(KIF1B):c.-79-4A>G
|
rs886044965
|
|
|
NM_001365951.3(KIF1B):c.-80+13G>A
|
rs1646683776
|
|
|
NM_001365951.3(KIF1B):c.-97G>A
|
rs1646683353
|
|
|
NM_001365951.3(KIF1B):c.1177G>A (p.Asp393Asn)
|
rs377570278
|
|
|
NM_001365951.3(KIF1B):c.1306A>G (p.Met436Val)
|
rs759751032
|
|
|
NM_001365951.3(KIF1B):c.1360T>C (p.Leu454=)
|
rs886044977
|
|
|
NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=)
|
rs530566864
|
|
|
NM_001365951.3(KIF1B):c.184-6_184-5del
|
rs138324955
|
|
|
NM_001365951.3(KIF1B):c.1941T>C (p.Thr647=)
|
rs1650298363
|
|
|
NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)
|
rs754121148
|
|
|
NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)
|
rs1230762716
|
|
|
NM_001365951.3(KIF1B):c.363+9C>A
|
rs1569599409
|
|
|
NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)
|
rs868389032
|
|
|
NM_001365951.3(KIF1B):c.3740T>C (p.Met1247Thr)
|
rs1326880304
|
|
|
NM_001365951.3(KIF1B):c.3835C>T (p.Pro1279Ser)
|
rs886044985
|
|
|
NM_001365951.3(KIF1B):c.4131T>C (p.Tyr1377=)
|
rs1638407540
|
|
|
NM_001365951.3(KIF1B):c.4977T>C (p.Ser1659=)
|
rs778240671
|
|
|
NM_001365951.3(KIF1B):c.608+7T>C
|
rs886044967
|
|
|
NM_001365951.3(KIF1B):c.706C>G (p.Leu236Val)
|
rs1648580372
|
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
|
NM_001365951.3(KIF1B):c.883-15C>T
|
rs1397719362
|
|
|
NM_001370259.2(MEN1):c.262G>T (p.Ala88Ser)
|
rs1565651916
|
|
|
NM_001370959.1(POU6F2):c.62C>G (p.Ser21Ter)
|
rs2116574924
|
|
|
NM_001370959.1(POU6F2):c.660G>T (p.Gln220His)
|
rs121918261
|
|
|
NM_001374828.1(ARID1B):c.3714+1G>A
|
rs1554231278
|
|
|
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
|
|
|
|
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
|
|
|
|
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
|
|
|
|
NM_001375883.1(GPR161):c.1502del (p.Gly501fs)
|
rs766670512
|
|
|
NM_001375883.1(GPR161):c.152C>A (p.Thr51Asn)
|
|
|
|
NM_001375883.1(GPR161):c.257C>T (p.Thr86Met)
|
|
|
|
NM_001375883.1(GPR161):c.487_488del (p.Leu163fs)
|
rs147891461
|
|
|
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
|
|
|
|
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
|
|
|
|
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
|
|
|
|
NM_001382508.1(DROSHA):c.2436_2439del (p.Asp814fs)
|
|
|
|
NM_001382508.1(DROSHA):c.2883-1G>A
|
|
|
|
NM_001382508.1(DROSHA):c.2988A>C (p.Leu996Phe)
|
|
|
|
NM_001382508.1(DROSHA):c.3261+1G>C
|
|
|
|
NM_001382508.1(DROSHA):c.3548del (p.Asn1183fs)
|
|
|
|
NM_001382508.1(DROSHA):c.403_409delinsCCACTT (p.Ala135fs)
|
|
|
|
NM_001382508.1(DROSHA):c.811C>T (p.Arg271Ter)
|
|
|
|
NM_001387283.1(SMARCA4):c.4172A>G (p.Lys1391Arg)
|
rs2146775051
|
|
|
NM_001387283.1(SMARCA4):c.4177A>G (p.Thr1393Ala)
|
rs1600445175
|
|
|
NM_001387283.1(SMARCA4):c.4179A>G (p.Thr1393=)
|
rs1600445198
|
|
|
NM_001387283.1(SMARCA4):c.4180G>C (p.Gly1394Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4180_4181delinsC (p.Gly1394fs)
|
rs1555787120
|
|
|
NM_001387283.1(SMARCA4):c.4182A>T (p.Gly1394=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4183A>G (p.Lys1395Glu)
|
rs2146775283
|
|
|
NM_001387283.1(SMARCA4):c.4185A>G (p.Lys1395=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4186G>T (p.Asp1396Tyr)
|
rs1555787123
|
|
|
NM_001387283.1(SMARCA4):c.4187A>G (p.Asp1396Gly)
|
rs186823009
|
|
|
NM_001387283.1(SMARCA4):c.4189_4190del (p.Ile1397fs)
|
|
|
|
NM_001387283.1(SMARCA4):c.4190T>C (p.Ile1397Thr)
|
rs534766933
|
|
|
NM_001387283.1(SMARCA4):c.4192C>T (p.His1398Tyr)
|
|
|
|
NM_001387283.1(SMARCA4):c.4196A>G (p.Asp1399Gly)
|
|
|
|
NM_001387283.1(SMARCA4):c.4200A>C (p.Thr1400=)
|
rs1060504439
|
|
|
NM_001387283.1(SMARCA4):c.4200A>G (p.Thr1400=)
|
rs1060504439
|
|
|
NM_001387283.1(SMARCA4):c.4200A>T (p.Thr1400=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4201G>A (p.Ala1401Thr)
|
|
|
|
NM_001387283.1(SMARCA4):c.4203C>T (p.Ala1401=)
|
rs765078241
|
|
|
NM_001387283.1(SMARCA4):c.4204A>C (p.Ser1402Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4206C>G (p.Ser1402Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4208G>A (p.Ser1403Asn)
|
|
|
|
NM_001387283.1(SMARCA4):c.4208del (p.Ser1403fs)
|
rs1060502088
|
|
|
NM_001387283.1(SMARCA4):c.4209T>C (p.Ser1403=)
|
rs2146775897
|
|
|
NM_001387283.1(SMARCA4):c.4210G>A (p.Val1404Met)
|
|
|
|
NM_001387283.1(SMARCA4):c.4215A>G (p.Ala1405=)
|
rs1555787171
|
|
|
NM_001387283.1(SMARCA4):c.4219G>A (p.Gly1407Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4219G>T (p.Gly1407Trp)
|
rs751103947
|
|
|
NM_001387283.1(SMARCA4):c.4223T>C (p.Leu1408Pro)
|
rs2146776508
|
|
|
NM_001387283.1(SMARCA4):c.4224A>G (p.Leu1408=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4226A>C (p.Gln1409Pro)
|
|
|
|
NM_001387283.1(SMARCA4):c.4228T>A (p.Phe1410Ile)
|
|
|
|
NM_001387283.1(SMARCA4):c.4232A>G (p.Gln1411Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4233G>A (p.Gln1411=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4233G>C (p.Gln1411His)
|
rs780721689
|
|
|
NM_001387283.1(SMARCA4):c.4237G>A (p.Gly1413Ser)
|
|
|
|
NM_001387283.1(SMARCA4):c.4239C>T (p.Gly1413=)
|
rs2146777181
|
|
|
NM_001387283.1(SMARCA4):c.4240C>G (p.Leu1414Val)
|
rs746165832
|
|
|
NM_001387283.1(SMARCA4):c.4240_4244delinsAGCGTGCAGAACGTGCAC (p.Leu1414fs)
|
|
|
|
NM_001387283.1(SMARCA4):c.4242T>G (p.Leu1414=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4243C>T (p.Gln1415Ter)
|
rs2075456626
|
|
|
NM_001387283.1(SMARCA4):c.4244A>G (p.Gln1415Arg)
|
rs1427210237
|
|
|
NM_001387283.1(SMARCA4):c.4245G>C (p.Gln1415His)
|
rs1600446366
|
|
|
NM_001387283.1(SMARCA4):c.4246T>C (p.Phe1416Leu)
|
rs1600446408
|
|
|
NM_001387283.1(SMARCA4):c.4250G>A (p.Cys1417Tyr)
|
rs772645133
|
|
|
NM_001387283.1(SMARCA4):c.4253C>T (p.Thr1418Ile)
|
rs1060502100
|
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
|
NM_001387283.1(SMARCA4):c.4256del (p.Arg1419fs)
|
rs2146777667
|
|
|
NM_001387283.1(SMARCA4):c.4257T>A (p.Arg1419=)
|
rs878854222
|
|
|
NM_001387283.1(SMARCA4):c.4257T>C (p.Arg1419=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4258G>A (p.Ala1420Thr)
|
|
|
|
NM_001387283.1(SMARCA4):c.4258G>C (p.Ala1420Pro)
|
|
|
|
NM_001387283.1(SMARCA4):c.4259C>G (p.Ala1420Gly)
|
rs200525458
|
|
|
NM_001387283.1(SMARCA4):c.4259C>T (p.Ala1420Val)
|
rs200525458
|
|
|
NM_001387283.1(SMARCA4):c.4260G>A (p.Ala1420=)
|
rs1349426835
|
|
|
NM_001387283.1(SMARCA4):c.4261T>A (p.Ser1421Thr)
|
rs776681345
|
|
|
NM_001387283.1(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
rs776681345
|
|
|
NM_001387283.1(SMARCA4):c.4264A>C (p.Lys1422Gln)
|
|
|
|
NM_001387283.1(SMARCA4):c.4265A>C (p.Lys1422Thr)
|
rs1060502061
|
|
|
NM_001387283.1(SMARCA4):c.4265A>G (p.Lys1422Arg)
|
rs1060502061
|
|
|
NM_001387283.1(SMARCA4):c.4266+1G>C
|
rs1060502086
|
|
|
NM_001387283.1(SMARCA4):c.4266+1G>T
|
rs1060502086
|
|
|
NM_001387283.1(SMARCA4):c.4266+1del
|
rs2075460114
|
|
|
NM_001387283.1(SMARCA4):c.4266+2T>A
|
|
|
|
NM_001387283.1(SMARCA4):c.4266+2_4266+3del
|
rs1568523387
|
|
|
NM_001448.3(GPC4):c.320-15del
|
rs57898529
|
|
|
NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter)
|
rs1554218944
|
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
|
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)
|
rs587776850
|
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
|
NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile)
|
rs1553630452
|
|
|
NM_001904.4(CTNNB1):c.84_95del (p.Gln28_Asp32delinsHis)
|
rs1553630102
|
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)
|
rs121913400
|
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
|
NM_002430.3(MN1):c.912GCA[5] (p.Gln309del)
|
rs747503495
|
|
|
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln)
|
rs2137374485
|
|
|
NM_003010.4(MAP2K4):c.538C>G (p.Leu180Val)
|
rs1555550018
|
|
|
NM_003072.5(SMARCA4):c.*6_*32dup (p.Ter1648=)
|
rs1555797492
|
|
|
NM_003072.5(SMARCA4):c.-32+34C>T
|
rs1351249230
|
|
|
NM_003072.5(SMARCA4):c.1000G>T (p.Gly334Trp)
|
rs1364450672
|
|
|
NM_003072.5(SMARCA4):c.1002G>A (p.Gly334=)
|
rs2086193630
|
|
|
NM_003072.5(SMARCA4):c.1003C>A (p.Gln335Lys)
|
rs374054124
|
|
|
NM_003072.5(SMARCA4):c.1005G>T (p.Gln335His)
|
rs1555755108
|
|
|
NM_003072.5(SMARCA4):c.1007C>A (p.Pro336Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1011C>T (p.Ala337=)
|
|
|
|
NM_003072.5(SMARCA4):c.1014G>A (p.Gln338=)
|
rs2086195287
|
|
|
NM_003072.5(SMARCA4):c.1014G>C (p.Gln338His)
|
rs2086195287
|
|
|
NM_003072.5(SMARCA4):c.1014G>T (p.Gln338His)
|
|
|
|
NM_003072.5(SMARCA4):c.1016C>T (p.Pro339Leu)
|
rs554354092
|
|
|
NM_003072.5(SMARCA4):c.1017C>A (p.Pro339=)
|
rs772609063
|
|
|
NM_003072.5(SMARCA4):c.1018G>T (p.Ala340Ser)
|
rs371214327
|
|
|
NM_003072.5(SMARCA4):c.101C>T (p.Pro34Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1020_1053dup (p.Ile352fs)
|
|
|
|
NM_003072.5(SMARCA4):c.1022C>T (p.Pro341Leu)
|
rs2086196449
|
|
|
NM_003072.5(SMARCA4):c.1023C>A (p.Pro341=)
|
rs1484876512
|
|
|
NM_003072.5(SMARCA4):c.1027G>C (p.Val343Leu)
|
rs1599970530
|
|
|
NM_003072.5(SMARCA4):c.1027G>T (p.Val343Leu)
|
rs1599970530
|
|
|
NM_003072.5(SMARCA4):c.1028T>C (p.Val343Ala)
|
rs1568427296
|
|
|
NM_003072.5(SMARCA4):c.102C>T (p.Pro34=)
|
rs769349881
|
|
|
NM_003072.5(SMARCA4):c.1030C>A (p.Pro344Thr)
|
rs771509538
|
|
|
NM_003072.5(SMARCA4):c.1030C>T (p.Pro344Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1031C>G (p.Pro344Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1032A>G (p.Pro344=)
|
rs1555755154
|
|
|
NM_003072.5(SMARCA4):c.1033C>A (p.Leu345Met)
|
rs888226264
|
|
|
NM_003072.5(SMARCA4):c.1034T>C (p.Leu345Pro)
|
rs1599970814
|
|
|
NM_003072.5(SMARCA4):c.1034T>G (p.Leu345Arg)
|
rs1599970814
|
|
|
NM_003072.5(SMARCA4):c.1035_1036delinsAA (p.His346Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1036C>T (p.His346Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.1038C>A (p.His346Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1038C>T (p.His346=)
|
rs2086198264
|
|
|
NM_003072.5(SMARCA4):c.1041G>C (p.Gln347His)
|
rs773687860
|
|
|
NM_003072.5(SMARCA4):c.1041G>T (p.Gln347His)
|
rs773687860
|
|
|
NM_003072.5(SMARCA4):c.1045C>G (p.Gln349Glu)
|
rs1060502092
|
|
|
NM_003072.5(SMARCA4):c.1047G>A (p.Gln349=)
|
rs1555755191
|
|
|
NM_003072.5(SMARCA4):c.1048A>G (p.Ser350Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.1049G>C (p.Ser350Thr)
|
rs1599971004
|
|
|
NM_003072.5(SMARCA4):c.1052G>T (p.Arg351Leu)
|
rs1018881303
|
|
|
NM_003072.5(SMARCA4):c.1053C>T (p.Arg351=)
|
rs1555755220
|
|
|
NM_003072.5(SMARCA4):c.1054A>G (p.Ile352Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1054A>T (p.Ile352Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1055T>A (p.Ile352Asn)
|
rs1568427448
|
|
|
NM_003072.5(SMARCA4):c.1055T>G (p.Ile352Ser)
|
rs1568427448
|
|
|
NM_003072.5(SMARCA4):c.1058C>T (p.Thr353Ile)
|
rs2145820918
|
|
|
NM_003072.5(SMARCA4):c.1059C>T (p.Thr353=)
|
rs1060504448
|
|
|
NM_003072.5(SMARCA4):c.105G>A (p.Ser35=)
|
rs762531687
|
|
|
NM_003072.5(SMARCA4):c.105G>C (p.Ser35=)
|
rs762531687
|
|
|
NM_003072.5(SMARCA4):c.105G>T (p.Ser35=)
|
rs762531687
|
|
|
NM_003072.5(SMARCA4):c.1060C>G (p.Pro354Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1060C>T (p.Pro354Ser)
|
rs864622680
|
|
|
NM_003072.5(SMARCA4):c.1061C>A (p.Pro354His)
|
rs1599971262
|
|
|
NM_003072.5(SMARCA4):c.1061C>T (p.Pro354Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1062C>T (p.Pro354=)
|
rs1555755238
|
|
|
NM_003072.5(SMARCA4):c.1064T>A (p.Ile355Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)
|
|
|
|
NM_003072.5(SMARCA4):c.1065C>G (p.Ile355Met)
|
rs1342901943
|
|
|
NM_003072.5(SMARCA4):c.1065C>T (p.Ile355=)
|
|
|
|
NM_003072.5(SMARCA4):c.1066C>T (p.Gln356Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.1067A>G (p.Gln356Arg)
|
rs2086201417
|
|
|
NM_003072.5(SMARCA4):c.106C>T (p.Pro36Ser)
|
rs1555750794
|
|
|
NM_003072.5(SMARCA4):c.1074G>T (p.Pro358=)
|
|
|
|
NM_003072.5(SMARCA4):c.1077G>A (p.Arg359=)
|
rs1555755272
|
|
|
NM_003072.5(SMARCA4):c.1077G>C (p.Arg359=)
|
|
|
|
NM_003072.5(SMARCA4):c.1078G>A (p.Gly360Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1079G>A (p.Gly360Asp)
|
rs1555755289
|
|
|
NM_003072.5(SMARCA4):c.1079G>T (p.Gly360Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1080C>T (p.Gly360=)
|
rs1450833972
|
|
|
NM_003072.5(SMARCA4):c.1081C>A (p.Leu361Ile)
|
rs1222895303
|
|
|
NM_003072.5(SMARCA4):c.1081C>T (p.Leu361Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1084G>C (p.Asp362His)
|
|
|
|
NM_003072.5(SMARCA4):c.1086C>A (p.Asp362Glu)
|
rs1599971944
|
|
|
NM_003072.5(SMARCA4):c.1086C>T (p.Asp362=)
|
rs1599971944
|
|
|
NM_003072.5(SMARCA4):c.1088C>T (p.Pro363Leu)
|
rs1568427632
|
|
|
NM_003072.5(SMARCA4):c.1093G>A (p.Glu365Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.1093G>C (p.Glu365Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1094A>G (p.Glu365Gly)
|
rs2145822167
|
|
|
NM_003072.5(SMARCA4):c.1095G>A (p.Glu365=)
|
|
|
|
NM_003072.5(SMARCA4):c.1095G>C (p.Glu365Asp)
|
rs2145822205
|
|
|
NM_003072.5(SMARCA4):c.1096A>T (p.Ile366Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1097T>A (p.Ile366Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1097T>C (p.Ile366Thr)
|
rs2145822279
|
|
|
NM_003072.5(SMARCA4):c.1098C>T (p.Ile366=)
|
rs532242119
|
|
|
NM_003072.5(SMARCA4):c.1099C>G (p.Leu367Val)
|
rs372379166
|
|
|
NM_003072.5(SMARCA4):c.109G>A (p.Gly37Ser)
|
rs2085812988
|
|
|
NM_003072.5(SMARCA4):c.10C>G (p.Pro4Ala)
|
rs2085801503
|
|
|
NM_003072.5(SMARCA4):c.10C>T (p.Pro4Ser)
|
rs2085801503
|
|
|
NM_003072.5(SMARCA4):c.1101G>A (p.Leu367=)
|
rs765808493
|
|
|
NM_003072.5(SMARCA4):c.1101G>C (p.Leu367=)
|
|
|
|
NM_003072.5(SMARCA4):c.1101_1119-550del
|
rs2086204386
|
|
|
NM_003072.5(SMARCA4):c.1107G>A (p.Glu369=)
|
rs1599972392
|
|
|
NM_003072.5(SMARCA4):c.1108C>T (p.Arg370Cys)
|
rs1436490540
|
|
|
NM_003072.5(SMARCA4):c.1109G>A (p.Arg370His)
|
rs878854197
|
|
|
NM_003072.5(SMARCA4):c.110G>A (p.Gly37Asp)
|
rs2085813185
|
|
|
NM_003072.5(SMARCA4):c.1111G>A (p.Glu371Lys)
|
rs1599972601
|
|
|
NM_003072.5(SMARCA4):c.1113G>A (p.Glu371=)
|
rs780678103
|
|
|
NM_003072.5(SMARCA4):c.1114T>A (p.Tyr372Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1115A>G (p.Tyr372Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.1117A>G (p.Arg373Gly)
|
rs1555755346
|
|
|
NM_003072.5(SMARCA4):c.1118+11G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1118+12G>A
|
rs746313418
|
|
|
NM_003072.5(SMARCA4):c.1118+13C>T
|
rs1333968026
|
|
|
NM_003072.5(SMARCA4):c.1118+14C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1118+15dup
|
|
|
|
NM_003072.5(SMARCA4):c.1118+16A>C
|
|
|
|
NM_003072.5(SMARCA4):c.1118+17G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1118+18T>A
|
|
|
|
NM_003072.5(SMARCA4):c.1118+18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.1118+19dup
|
rs761800606
|
|
|
NM_003072.5(SMARCA4):c.1118+1G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1118+3G>T
|
rs1568427837
|
|
|
NM_003072.5(SMARCA4):c.1118+4A>T
|
rs2086207488
|
|
|
NM_003072.5(SMARCA4):c.1118+5G>A
|
rs1351206812
|
|
|
NM_003072.5(SMARCA4):c.1118+6G>A
|
rs1471938505
|
|
|
NM_003072.5(SMARCA4):c.1118+7del
|
rs774132615
|
|
|
NM_003072.5(SMARCA4):c.1119-10C>G
|
rs759026373
|
|
|
NM_003072.5(SMARCA4):c.1119-11T>C
|
|
|
|
NM_003072.5(SMARCA4):c.1119-12C>G
|
rs113870824
|
|
|
NM_003072.5(SMARCA4):c.1119-17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1119-18C>A
|
rs1403056424
|
|
|
NM_003072.5(SMARCA4):c.1119-18C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1119-19T>C
|
|
|
|
NM_003072.5(SMARCA4):c.1119-20C>A
|
rs2145845503
|
|
|
NM_003072.5(SMARCA4):c.1119-20C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1119-2A>C
|
rs1568430280
|
|
|
NM_003072.5(SMARCA4):c.1119-5C>A
|
|
|
|
NM_003072.5(SMARCA4):c.1119-5C>G
|
rs1555756257
|
|
|
NM_003072.5(SMARCA4):c.1119-5C>T
|
rs1555756257
|
|
|
NM_003072.5(SMARCA4):c.111C>T (p.Gly37=)
|
rs1599929306
|
|
|
NM_003072.5(SMARCA4):c.1120C>G (p.Leu374Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1122G>A (p.Leu374=)
|
rs2145846524
|
|
|
NM_003072.5(SMARCA4):c.1123C>T (p.Gln375Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.1124A>G (p.Gln375Arg)
|
rs2145846611
|
|
|
NM_003072.5(SMARCA4):c.1127C>T (p.Ala376Val)
|
rs2086347503
|
|
|
NM_003072.5(SMARCA4):c.1129C>T (p.Arg377Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro)
|
rs1599929325
|
|
|
NM_003072.5(SMARCA4):c.1130G>A (p.Arg377His)
|
rs1555756272
|
|
|
NM_003072.5(SMARCA4):c.1130G>T (p.Arg377Leu)
|
rs1555756272
|
|
|
NM_003072.5(SMARCA4):c.1132A>G (p.Ile378Val)
|
rs540717794
|
|
|
NM_003072.5(SMARCA4):c.1133T>C (p.Ile378Thr)
|
rs1599995171
|
|
|
NM_003072.5(SMARCA4):c.1134C>A (p.Ile378=)
|
|
|
|
NM_003072.5(SMARCA4):c.1135G>C (p.Ala379Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.1135G>T (p.Ala379Ser)
|
rs769660597
|
|
|
NM_003072.5(SMARCA4):c.1137A>G (p.Ala379=)
|
rs2086348980
|
|
|
NM_003072.5(SMARCA4):c.1137A>T (p.Ala379=)
|
|
|
|
NM_003072.5(SMARCA4):c.1138C>T (p.His380Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.113C>T (p.Ser38Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter)
|
rs972341316
|
|
|
NM_003072.5(SMARCA4):c.1142G>A (p.Arg381Gln)
|
rs749059769
|
|
|
NM_003072.5(SMARCA4):c.1155T>C (p.Leu385=)
|
rs201099398
|
|
|
NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del)
|
rs1555756326
|
|
|
NM_003072.5(SMARCA4):c.115G>T (p.Ala39Ser)
|
rs764312409
|
|
|
NM_003072.5(SMARCA4):c.1163T>C (p.Leu388Pro)
|
rs1555756337
|
|
|
NM_003072.5(SMARCA4):c.1163T>G (p.Leu388Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1167C>G (p.Pro389=)
|
rs766872743
|
|
|
NM_003072.5(SMARCA4):c.1168G>A (p.Gly390Arg)
|
rs1568430508
|
|
|
NM_003072.5(SMARCA4):c.116C>T (p.Ala39Val)
|
rs2145723731
|
|
|
NM_003072.5(SMARCA4):c.1170G>A (p.Gly390=)
|
|
|
|
NM_003072.5(SMARCA4):c.1170G>T (p.Gly390=)
|
rs2145848125
|
|
|
NM_003072.5(SMARCA4):c.1173C>G (p.Ser391=)
|
|
|
|
NM_003072.5(SMARCA4):c.1174C>T (p.Leu392=)
|
rs1599995908
|
|
|
NM_003072.5(SMARCA4):c.1175T>A (p.Leu392Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1177del (p.Ala393fs)
|
rs2145848353
|
|
|
NM_003072.5(SMARCA4):c.1180G>A (p.Gly394Arg)
|
rs1046318786
|
|
|
NM_003072.5(SMARCA4):c.1180G>C (p.Gly394Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1182G>A (p.Gly394=)
|
rs760199461
|
|
|
NM_003072.5(SMARCA4):c.1184A>G (p.Asp395Gly)
|
rs2086352477
|
|
|
NM_003072.5(SMARCA4):c.1187T>G (p.Leu396Trp)
|
rs2145848630
|
|
|
NM_003072.5(SMARCA4):c.1188G>A (p.Leu396=)
|
rs926497722
|
|
|
NM_003072.5(SMARCA4):c.1189C>A (p.Arg397=)
|
rs1295192121
|
|
|
NM_003072.5(SMARCA4):c.1189C>G (p.Arg397Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.1189C>T (p.Arg397Ter)
|
rs1295192121
|
|
|
NM_003072.5(SMARCA4):c.118C>T (p.His40Tyr)
|
rs2145723792
|
|
|
NM_003072.5(SMARCA4):c.1194C>G (p.Thr398=)
|
rs2086353236
|
|
|
NM_003072.5(SMARCA4):c.1195A>G (p.Lys399Glu)
|
rs2145848866
|
|
|
NM_003072.5(SMARCA4):c.1196A>G (p.Lys399Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1196A>T (p.Lys399Ile)
|
rs1364132635
|
|
|
NM_003072.5(SMARCA4):c.1198G>T (p.Ala400Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.119A>G (p.His40Arg)
|
rs1178566757
|
|
|
NM_003072.5(SMARCA4):c.1202C>A (p.Thr401Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1203C>T (p.Thr401=)
|
rs2145849082
|
|
|
NM_003072.5(SMARCA4):c.1205T>C (p.Ile402Thr)
|
rs1599996370
|
|
|
NM_003072.5(SMARCA4):c.1207G>A (p.Glu403Lys)
|
rs1555756388
|
|
|
NM_003072.5(SMARCA4):c.1208A>G (p.Glu403Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.120C>G (p.His40Gln)
|
rs375884151
|
|
|
NM_003072.5(SMARCA4):c.120C>T (p.His40=)
|
rs375884151
|
|
|
NM_003072.5(SMARCA4):c.1210C>G (p.Leu404Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1210C>T (p.Leu404Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1212C>T (p.Leu404=)
|
rs182329193
|
|
|
NM_003072.5(SMARCA4):c.1214A>G (p.Lys405Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1217C>T (p.Ala406Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1218C>A (p.Ala406=)
|
|
|
|
NM_003072.5(SMARCA4):c.1218C>T (p.Ala406=)
|
rs1380198147
|
|
|
NM_003072.5(SMARCA4):c.1219C>T (p.Leu407Phe)
|
rs1060502078
|
|
|
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly)
|
rs1555750818
|
|
|
NM_003072.5(SMARCA4):c.1221C>G (p.Leu407=)
|
rs1599996649
|
|
|
NM_003072.5(SMARCA4):c.1222A>C (p.Arg408=)
|
|
|
|
NM_003072.5(SMARCA4):c.1222A>G (p.Arg408Gly)
|
rs2086355525
|
|
|
NM_003072.5(SMARCA4):c.1223G>A (p.Arg408Lys)
|
rs2145849759
|
|
|
NM_003072.5(SMARCA4):c.1224G>A (p.Arg408=)
|
rs2145849801
|
|
|
NM_003072.5(SMARCA4):c.1225C>A (p.Leu409Met)
|
rs2145849845
|
|
|
NM_003072.5(SMARCA4):c.1227G>A (p.Leu409=)
|
rs1555756424
|
|
|
NM_003072.5(SMARCA4):c.122G>T (p.Ser41Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.1230G>A (p.Leu410=)
|
rs2086356109
|
|
|
NM_003072.5(SMARCA4):c.1230G>T (p.Leu410=)
|
rs2086356109
|
|
|
NM_003072.5(SMARCA4):c.1233C>T (p.Asn411=)
|
rs1599996788
|
|
|
NM_003072.5(SMARCA4):c.1234T>C (p.Phe412Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1236C>G (p.Phe412Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1240A>C (p.Arg414=)
|
rs2145850238
|
|
|
NM_003072.5(SMARCA4):c.1242G>A (p.Arg414=)
|
rs1391636290
|
|
|
NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter)
|
rs2086356894
|
|
|
NM_003072.5(SMARCA4):c.1245+10G>A
|
rs1599997115
|
|
|
NM_003072.5(SMARCA4):c.1245+11G>A
|
rs2145850856
|
|
|
NM_003072.5(SMARCA4):c.1245+11G>C
|
|
|
|
NM_003072.5(SMARCA4):c.1245+12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1245+14T>C
|
|
|
|
NM_003072.5(SMARCA4):c.1245+15G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1245+15G>C
|
|
|
|
NM_003072.5(SMARCA4):c.1245+15G>T
|
rs2145851064
|
|
|
NM_003072.5(SMARCA4):c.1245+17C>T
|
rs2145851172
|
|
|
NM_003072.5(SMARCA4):c.1245+18C>G
|
rs376247014
|
|
|
NM_003072.5(SMARCA4):c.1245+1G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1245+20C>T
|
rs2145851327
|
|
|
NM_003072.5(SMARCA4):c.1245+3G>A
|
rs2145850436
|
|
|
NM_003072.5(SMARCA4):c.1245+4G>A
|
rs2145850485
|
|
|
NM_003072.5(SMARCA4):c.1245+5G>C
|
rs2145850551
|
|
|
NM_003072.5(SMARCA4):c.1245+6delinsAATCTGGAAA
|
|
|
|
NM_003072.5(SMARCA4):c.1245+9T>A
|
|
|
|
NM_003072.5(SMARCA4):c.1245G>A (p.Gln415=)
|
rs2145850376
|
|
|
NM_003072.5(SMARCA4):c.1245G>C (p.Gln415His)
|
|
|
|
NM_003072.5(SMARCA4):c.1246-11C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1246-14C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1246-18T>A
|
|
|
|
NM_003072.5(SMARCA4):c.1246-18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.1246-19G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1246-3C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1246-4A>G
|
rs1344703726
|
|
|
NM_003072.5(SMARCA4):c.1246-6C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1246-7C>T
|
rs757073121
|
|
|
NM_003072.5(SMARCA4):c.1246-9C>T
|
rs1324930849
|
|
|
NM_003072.5(SMARCA4):c.1247T>G (p.Leu416Arg)
|
rs2086525774
|
|
|
NM_003072.5(SMARCA4):c.1248G>A (p.Leu416=)
|
|
|
|
NM_003072.5(SMARCA4):c.1249C>G (p.Arg417Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.1249C>T (p.Arg417Cys)
|
rs2086525936
|
|
|
NM_003072.5(SMARCA4):c.124A>C (p.Met42Leu)
|
rs1060502081
|
|
|
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val)
|
rs1060502081
|
|
|
NM_003072.5(SMARCA4):c.124A>T (p.Met42Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1250G>A (p.Arg417His)
|
rs2086526099
|
|
|
NM_003072.5(SMARCA4):c.1250G>T (p.Arg417Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1251C>A (p.Arg417=)
|
rs2145877893
|
|
|
NM_003072.5(SMARCA4):c.1251C>T (p.Arg417=)
|
rs2145877893
|
|
|
NM_003072.5(SMARCA4):c.1253A>G (p.Gln418Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1254G>A (p.Gln418=)
|
|
|
|
NM_003072.5(SMARCA4):c.1255G>C (p.Glu419Gln)
|
rs1600022414
|
|
|
NM_003072.5(SMARCA4):c.1257G>A (p.Glu419=)
|
rs878854199
|
|
|
NM_003072.5(SMARCA4):c.1257G>T (p.Glu419Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1258G>A (p.Val420Met)
|
|
|
|
NM_003072.5(SMARCA4):c.125T>C (p.Met42Thr)
|
rs1046243225
|
|
|
NM_003072.5(SMARCA4):c.1260G>T (p.Val420=)
|
rs778628081
|
|
|
NM_003072.5(SMARCA4):c.1261G>C (p.Val421Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1263G>A (p.Val421=)
|
rs1436279146
|
|
|
NM_003072.5(SMARCA4):c.1264G>A (p.Val422Met)
|
rs1555757536
|
|
|
NM_003072.5(SMARCA4):c.1266G>A (p.Val422=)
|
rs969090029
|
|
|
NM_003072.5(SMARCA4):c.1266G>C (p.Val422=)
|
|
|
|
NM_003072.5(SMARCA4):c.126G>C (p.Met42Ile)
|
rs765325777
|
|
|
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile)
|
rs765325777
|
|
|
NM_003072.5(SMARCA4):c.1270A>C (p.Met424Leu)
|
rs1555757541
|
|
|
NM_003072.5(SMARCA4):c.1273C>T (p.Arg425Trp)
|
rs2145878488
|
|
|
NM_003072.5(SMARCA4):c.1279G>A (p.Asp427Asn)
|
rs2086528184
|
|
|
NM_003072.5(SMARCA4):c.1279G>T (p.Asp427Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.127A>G (p.Met43Val)
|
rs375812959
|
|
|
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu)
|
rs375812959
|
|
|
NM_003072.5(SMARCA4):c.1281C>T (p.Asp427=)
|
rs2145878746
|
|
|
NM_003072.5(SMARCA4):c.1282A>G (p.Thr428Ala)
|
rs2145878787
|
|
|
NM_003072.5(SMARCA4):c.1283C>A (p.Thr428Lys)
|
rs2086528346
|
|
|
NM_003072.5(SMARCA4):c.1285G>A (p.Ala429Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1287G>T (p.Ala429=)
|
|
|
|
NM_003072.5(SMARCA4):c.1290G>T (p.Leu430=)
|
rs1421114940
|
|
|
NM_003072.5(SMARCA4):c.1291G>A (p.Glu431Lys)
|
rs1792421235
|
|
|
NM_003072.5(SMARCA4):c.1292A>G (p.Glu431Gly)
|
rs2145879071
|
|
|
NM_003072.5(SMARCA4):c.1295C>T (p.Thr432Ile)
|
rs2086529449
|
|
|
NM_003072.5(SMARCA4):c.129G>A (p.Met43Ile)
|
rs1599929580
|
|
|
NM_003072.5(SMARCA4):c.1300C>G (p.Leu434Val)
|
rs2145879278
|
|
|
NM_003072.5(SMARCA4):c.1302C>T (p.Leu434=)
|
rs1555757586
|
|
|
NM_003072.5(SMARCA4):c.1303A>T (p.Asn435Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.1304A>G (p.Asn435Ser)
|
rs1555757591
|
|
|
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr)
|
rs2086530559
|
|
|
NM_003072.5(SMARCA4):c.1307C>A (p.Ala436Asp)
|
rs1600023098
|
|
|
NM_003072.5(SMARCA4):c.1308T>C (p.Ala436=)
|
rs1555757594
|
|
|
NM_003072.5(SMARCA4):c.1311G>A (p.Lys437=)
|
|
|
|
NM_003072.5(SMARCA4):c.1312G>A (p.Ala438Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1316A>T (p.Tyr439Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1317C>T (p.Tyr439=)
|
rs1600023158
|
|
|
NM_003072.5(SMARCA4):c.1319A>G (p.Lys440Arg)
|
rs2145879866
|
|
|
NM_003072.5(SMARCA4):c.131G>C (p.Gly44Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1321C>A (p.Arg441Ser)
|
rs1600023226
|
|
|
NM_003072.5(SMARCA4):c.1321C>T (p.Arg441Cys)
|
rs1600023226
|
|
|
NM_003072.5(SMARCA4):c.1323C>G (p.Arg441=)
|
rs2145879994
|
|
|
NM_003072.5(SMARCA4):c.1323C>T (p.Arg441=)
|
|
|
|
NM_003072.5(SMARCA4):c.1324A>C (p.Ser442Arg)
|
rs1600023338
|
|
|
NM_003072.5(SMARCA4):c.1329G>A (p.Lys443=)
|
rs2145880182
|
|
|
NM_003072.5(SMARCA4):c.132G>C (p.Gly44=)
|
|
|
|
NM_003072.5(SMARCA4):c.132G>T (p.Gly44=)
|
rs1377214956
|
|
|
NM_003072.5(SMARCA4):c.1331G>C (p.Arg444Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.1332C>G (p.Arg444=)
|
|
|
|
NM_003072.5(SMARCA4):c.1334A>G (p.Gln445Arg)
|
rs2086532633
|
|
|
NM_003072.5(SMARCA4):c.1335G>A (p.Gln445=)
|
rs1461859748
|
|
|
NM_003072.5(SMARCA4):c.1335G>C (p.Gln445His)
|
rs1461859748
|
|
|
NM_003072.5(SMARCA4):c.1339C>T (p.Leu447=)
|
rs2145880527
|
|
|
NM_003072.5(SMARCA4):c.1341G>T (p.Leu447=)
|
|
|
|
NM_003072.5(SMARCA4):c.1342C>T (p.Arg448Cys)
|
rs2086533643
|
|
|
NM_003072.5(SMARCA4):c.1343G>A (p.Arg448His)
|
rs1060502063
|
|
|
NM_003072.5(SMARCA4):c.1344C>A (p.Arg448=)
|
rs140328531
|
|
|
NM_003072.5(SMARCA4):c.1344C>G (p.Arg448=)
|
rs140328531
|
|
|
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser)
|
rs1204677224
|
|
|
NM_003072.5(SMARCA4):c.1349C>T (p.Ala450Val)
|
rs1555757651
|
|
|
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His)
|
rs367601832
|
|
|
NM_003072.5(SMARCA4):c.1350C>T (p.Ala450=)
|
rs2145880913
|
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
|
NM_003072.5(SMARCA4):c.1352G>A (p.Arg451His)
|
|
|
|
NM_003072.5(SMARCA4):c.1353C>A (p.Arg451=)
|
rs1060504437
|
|
|
NM_003072.5(SMARCA4):c.1354A>G (p.Ile452Val)
|
rs2086535406
|
|
|
NM_003072.5(SMARCA4):c.1356C>T (p.Ile452=)
|
rs2145881155
|
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
|
NM_003072.5(SMARCA4):c.1359T>C (p.Thr453=)
|
|
|
|
NM_003072.5(SMARCA4):c.1359T>G (p.Thr453=)
|
|
|
|
NM_003072.5(SMARCA4):c.135C>T (p.Pro45=)
|
|
|
|
NM_003072.5(SMARCA4):c.1364A>G (p.Lys455Arg)
|
rs2086536067
|
|
|
NM_003072.5(SMARCA4):c.1368G>A (p.Leu456=)
|
rs1060504441
|
|
|
NM_003072.5(SMARCA4):c.1378C>T (p.Gln460Ter)
|
rs1490850743
|
|
|
NM_003072.5(SMARCA4):c.1380G>A (p.Gln460=)
|
|
|
|
NM_003072.5(SMARCA4):c.1381A>C (p.Lys461Gln)
|
rs757516325
|
|
|
NM_003072.5(SMARCA4):c.1382A>G (p.Lys461Arg)
|
rs1568434007
|
|
|
NM_003072.5(SMARCA4):c.1383G>A (p.Lys461=)
|
|
|
|
NM_003072.5(SMARCA4):c.1384A>G (p.Ile462Val)
|
rs2086537587
|
|
|
NM_003072.5(SMARCA4):c.1386C>A (p.Ile462=)
|
rs1265247876
|
|
|
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met)
|
rs1265247876
|
|
|
NM_003072.5(SMARCA4):c.1386C>T (p.Ile462=)
|
rs1265247876
|
|
|
NM_003072.5(SMARCA4):c.1387G>A (p.Glu463Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.1389G>A (p.Glu463=)
|
rs750247391
|
|
|
NM_003072.5(SMARCA4):c.138C>A (p.Ser46Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.138C>T (p.Ser46=)
|
rs1280365701
|
|
|
NM_003072.5(SMARCA4):c.1395G>A (p.Glu465=)
|
rs1600024348
|
|
|
NM_003072.5(SMARCA4):c.1396C>T (p.Arg466Cys)
|
rs1555757709
|
|
|
NM_003072.5(SMARCA4):c.1398C>T (p.Arg466=)
|
rs2086538912
|
|
|
NM_003072.5(SMARCA4):c.1400A>G (p.Lys467Arg)
|
rs758203117
|
|
|
NM_003072.5(SMARCA4):c.1401G>A (p.Lys467=)
|
rs898576341
|
|
|
NM_003072.5(SMARCA4):c.1402C>T (p.Arg468Cys)
|
rs2145882413
|
|
|
NM_003072.5(SMARCA4):c.1404C>T (p.Arg468=)
|
rs995631496
|
|
|
NM_003072.5(SMARCA4):c.1405C>T (p.Arg469Trp)
|
rs1060502079
|
|
|
NM_003072.5(SMARCA4):c.1406G>A (p.Arg469Gln)
|
rs2145882558
|
|
|
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter)
|
rs1555757738
|
|
|
NM_003072.5(SMARCA4):c.1409A>T (p.Gln470Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1416C>G (p.His472Gln)
|
rs2086540721
|
|
|
NM_003072.5(SMARCA4):c.1417C>G (p.Gln473Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1419+10G>C
|
rs759831368
|
|
|
NM_003072.5(SMARCA4):c.1419+11G>A
|
rs772412983
|
|
|
NM_003072.5(SMARCA4):c.1419+14G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1419+14_1419+15delinsTT
|
rs2145883668
|
|
|
NM_003072.5(SMARCA4):c.1419+17C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1419+17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1419+18C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1419+20A>G
|
|
|
|
NM_003072.5(SMARCA4):c.1419+20del
|
|
|
|
NM_003072.5(SMARCA4):c.1419+3A>G
|
rs2086541272
|
|
|
NM_003072.5(SMARCA4):c.1419+5G>T
|
rs199814381
|
|
|
NM_003072.5(SMARCA4):c.1419+5dup
|
|
|
|
NM_003072.5(SMARCA4):c.1419+6C>G
|
rs1366466358
|
|
|
NM_003072.5(SMARCA4):c.1419+6C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1419+8C>A
|
rs115492175
|
|
|
NM_003072.5(SMARCA4):c.1419G>A (p.Gln473=)
|
rs2086540879
|
|
|
NM_003072.5(SMARCA4):c.1420-11C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1420-12G>A
|
rs1373222723
|
|
|
NM_003072.5(SMARCA4):c.1420-15del
|
rs1243522305
|
|
|
NM_003072.5(SMARCA4):c.1420-16T>C
|
rs2145936128
|
|
|
NM_003072.5(SMARCA4):c.1420-18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.1420-19C>T
|
rs2145935957
|
|
|
NM_003072.5(SMARCA4):c.1420-3C>G
|
rs777295398
|
|
|
NM_003072.5(SMARCA4):c.1420-4G>C
|
rs1419106837
|
|
|
NM_003072.5(SMARCA4):c.1420-4G>T
|
rs1419106837
|
|
|
NM_003072.5(SMARCA4):c.1420-6C>A
|
rs878854200
|
|
|
NM_003072.5(SMARCA4):c.1420-6C>G
|
rs878854200
|
|
|
NM_003072.5(SMARCA4):c.1422A>C (p.Glu474Asp)
|
rs2086879917
|
|
|
NM_003072.5(SMARCA4):c.1425C>A (p.Tyr475Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.1425C>T (p.Tyr475=)
|
rs1377250142
|
|
|
NM_003072.5(SMARCA4):c.1426C>T (p.Leu476Phe)
|
rs1600067548
|
|
|
NM_003072.5(SMARCA4):c.142G>C (p.Gly48Arg)
|
rs2085816935
|
|
|
NM_003072.5(SMARCA4):c.1431T>C (p.Asn477=)
|
rs997330938
|
|
|
NM_003072.5(SMARCA4):c.1432A>T (p.Ser478Cys)
|
rs1555761983
|
|
|
NM_003072.5(SMARCA4):c.1434C>A (p.Ser478Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1434C>T (p.Ser478=)
|
rs1555761987
|
|
|
NM_003072.5(SMARCA4):c.143G>C (p.Gly48Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1440C>T (p.Leu480=)
|
rs1555761995
|
|
|
NM_003072.5(SMARCA4):c.1446T>C (p.His482=)
|
|
|
|
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1449C>T (p.Ala483=)
|
rs2145937992
|
|
|
NM_003072.5(SMARCA4):c.144G>A (p.Gly48=)
|
rs1398193826
|
|
|
NM_003072.5(SMARCA4):c.144G>T (p.Gly48=)
|
rs1398193826
|
|
|
NM_003072.5(SMARCA4):c.1451A>G (p.Lys484Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1455T>C (p.Asp485=)
|
|
|
|
NM_003072.5(SMARCA4):c.1458C>G (p.Phe486Leu)
|
rs1555762001
|
|
|
NM_003072.5(SMARCA4):c.1458C>T (p.Phe486=)
|
rs1555762001
|
|
|
NM_003072.5(SMARCA4):c.1460A>G (p.Lys487Arg)
|
rs2086882004
|
|
|
NM_003072.5(SMARCA4):c.1461G>A (p.Lys487=)
|
rs1555762006
|
|
|
NM_003072.5(SMARCA4):c.1464A>G (p.Glu488=)
|
rs1600067802
|
|
|
NM_003072.5(SMARCA4):c.146C>T (p.Pro49Leu)
|
rs1464033862
|
|
|
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs)
|
rs2145938835
|
|
|
NM_003072.5(SMARCA4):c.1473A>G (p.Arg491=)
|
rs1408687423
|
|
|
NM_003072.5(SMARCA4):c.1475C>G (p.Ser492Cys)
|
rs2145938942
|
|
|
NM_003072.5(SMARCA4):c.1476C>A (p.Ser492=)
|
rs528531511
|
|
|
NM_003072.5(SMARCA4):c.1476C>G (p.Ser492=)
|
rs528531511
|
|
|
NM_003072.5(SMARCA4):c.1479C>T (p.Val493=)
|
rs1060504468
|
|
|
NM_003072.5(SMARCA4):c.1481C>T (p.Thr494Ile)
|
rs1060502098
|
|
|
NM_003072.5(SMARCA4):c.1483G>A (p.Gly495Ser)
|
rs1060502093
|
|
|
NM_003072.5(SMARCA4):c.1483G>T (p.Gly495Cys)
|
rs1060502093
|
|
|
NM_003072.5(SMARCA4):c.1487A>G (p.Lys496Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1488A>T (p.Lys496Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.148C>T (p.Pro50Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1503C>T (p.Thr501=)
|
|
|
|
NM_003072.5(SMARCA4):c.1507G>A (p.Ala503Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1513G>A (p.Ala505Thr)
|
rs1555762079
|
|
|
NM_003072.5(SMARCA4):c.1514C>G (p.Ala505Gly)
|
rs1600068130
|
|
|
NM_003072.5(SMARCA4):c.1514C>T (p.Ala505Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1518G>T (p.Thr506=)
|
rs145369952
|
|
|
NM_003072.5(SMARCA4):c.1521C>T (p.Tyr507=)
|
rs2145940628
|
|
|
NM_003072.5(SMARCA4):c.1523_1524delinsGC (p.His508Arg)
|
rs2145940710
|
|
|
NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val)
|
rs1600068270
|
|
|
NM_003072.5(SMARCA4):c.1527C>G (p.Ala509=)
|
rs1555762105
|
|
|
NM_003072.5(SMARCA4):c.1527C>T (p.Ala509=)
|
|
|
|
NM_003072.5(SMARCA4):c.1529A>G (p.Asn510Ser)
|
rs2086886078
|
|
|
NM_003072.5(SMARCA4):c.152C>T (p.Ser51Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.152CAG[1] (p.Ala52del)
|
|
|
|
NM_003072.5(SMARCA4):c.1532C>T (p.Thr511Met)
|
|
|
|
NM_003072.5(SMARCA4):c.1535A>T (p.Glu512Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1537C>A (p.Arg513=)
|
|
|
|
NM_003072.5(SMARCA4):c.1537C>T (p.Arg513Trp)
|
rs1207620630
|
|
|
NM_003072.5(SMARCA4):c.1542G>A (p.Glu514=)
|
rs2145941457
|
|
|
NM_003072.5(SMARCA4):c.1543C>T (p.Gln515Ter)
|
rs2086887013
|
|
|
NM_003072.5(SMARCA4):c.154G>A (p.Ala52Thr)
|
rs1060502103
|
|
|
NM_003072.5(SMARCA4):c.1550A>G (p.Lys517Arg)
|
rs2086887157
|
|
|
NM_003072.5(SMARCA4):c.1551A>G (p.Lys517=)
|
rs2145941690
|
|
|
NM_003072.5(SMARCA4):c.1554G>A (p.Glu518=)
|
rs773341135
|
|
|
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
|
|
|
|
NM_003072.5(SMARCA4):c.155C>T (p.Ala52Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1560G>A (p.Glu520=)
|
rs1555762139
|
|
|
NM_003072.5(SMARCA4):c.1561C>T (p.Arg521Trp)
|
rs2145942104
|
|
|
NM_003072.5(SMARCA4):c.1562G>A (p.Arg521Gln)
|
rs990869140
|
|
|
NM_003072.5(SMARCA4):c.1563G>A (p.Arg521=)
|
|
|
|
NM_003072.5(SMARCA4):c.1564A>G (p.Ile522Val)
|
rs1568440731
|
|
|
NM_003072.5(SMARCA4):c.1567G>T (p.Glu523Ter)
|
rs2086888561
|
|
|
NM_003072.5(SMARCA4):c.1575G>A (p.Glu525=)
|
rs2145942614
|
|
|
NM_003072.5(SMARCA4):c.1579A>C (p.Met527Leu)
|
rs2145942762
|
|
|
NM_003072.5(SMARCA4):c.1583G>A (p.Arg528Gln)
|
rs1555762188
|
|
|
NM_003072.5(SMARCA4):c.1584G>A (p.Arg528=)
|
|
|
|
NM_003072.5(SMARCA4):c.1587G>A (p.Arg529=)
|
rs1427734906
|
|
|
NM_003072.5(SMARCA4):c.1590C>A (p.Leu530=)
|
rs1555762200
|
|
|
NM_003072.5(SMARCA4):c.1590C>T (p.Leu530=)
|
rs1555762200
|
|
|
NM_003072.5(SMARCA4):c.1593+13C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1593+16C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1593+17T>C
|
rs2086891950
|
|
|
NM_003072.5(SMARCA4):c.1593+20A>G
|
|
|
|
NM_003072.5(SMARCA4):c.1593+20del
|
|
|
|
NM_003072.5(SMARCA4):c.1593+3A>G
|
rs1555762222
|
|
|
NM_003072.5(SMARCA4):c.1593+3A>T
|
rs1555762222
|
|
|
NM_003072.5(SMARCA4):c.1593+4T>C
|
rs1060502072
|
|
|
NM_003072.5(SMARCA4):c.1593+6G>A
|
rs2145943465
|
|
|
NM_003072.5(SMARCA4):c.1593+8C>T
|
rs766489456
|
|
|
NM_003072.5(SMARCA4):c.1593+9C>T
|
rs2086890897
|
|
|
NM_003072.5(SMARCA4):c.1594-10G>A
|
rs1600081668
|
|
|
NM_003072.5(SMARCA4):c.1594-10G>C
|
|
|
|
NM_003072.5(SMARCA4):c.1594-11T>C
|
rs2145968068
|
|
|
NM_003072.5(SMARCA4):c.1594-12A>T
|
|
|
|
NM_003072.5(SMARCA4):c.1594-13del
|
|
|
|
NM_003072.5(SMARCA4):c.1594-13dup
|
|
|
|
NM_003072.5(SMARCA4):c.1594-14C>T
|
rs2145967980
|
|
|
NM_003072.5(SMARCA4):c.1594-15C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1594-15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1594-16C>A
|
|
|
|
NM_003072.5(SMARCA4):c.1594-17C>A
|
|
|
|
NM_003072.5(SMARCA4):c.1594-18A>G
|
|
|
|
NM_003072.5(SMARCA4):c.1594-18dup
|
rs778456116
|
|
|
NM_003072.5(SMARCA4):c.1594-19A>G
|
|
|
|
NM_003072.5(SMARCA4):c.1594-3T>C
|
rs1600081783
|
|
|
NM_003072.5(SMARCA4):c.1594-4G>A
|
rs1060504454
|
|
|
NM_003072.5(SMARCA4):c.1594-4G>T
|
|
|
|
NM_003072.5(SMARCA4):c.1594-5T>C
|
rs1223041498
|
|
|
NM_003072.5(SMARCA4):c.1594-5T>G
|
rs1223041498
|
|
|
NM_003072.5(SMARCA4):c.1594-9C>T
|
|
|
|
NM_003072.5(SMARCA4):c.15C>T (p.Asp5=)
|
rs1309825975
|
|
|
NM_003072.5(SMARCA4):c.1602T>C (p.Asp534=)
|
rs2145968809
|
|
|
NM_003072.5(SMARCA4):c.1605G>A (p.Glu535=)
|
rs2145968920
|
|
|
NM_003072.5(SMARCA4):c.1608G>C (p.Glu536Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1615C>T (p.Arg539Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.1616G>T (p.Arg539Leu)
|
rs1600081861
|
|
|
NM_003072.5(SMARCA4):c.1619A>G (p.Lys540Arg)
|
rs778357380
|
|
|
NM_003072.5(SMARCA4):c.161A>G (p.His54Arg)
|
rs1348866967
|
|
|
NM_003072.5(SMARCA4):c.1620G>A (p.Lys540=)
|
rs2145969558
|
|
|
NM_003072.5(SMARCA4):c.1620G>T (p.Lys540Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1624A>G (p.Ile542Val)
|
rs2145969738
|
|
|
NM_003072.5(SMARCA4):c.1626C>A (p.Ile542=)
|
|
|
|
NM_003072.5(SMARCA4):c.1629C>T (p.Asp543=)
|
rs1600081957
|
|
|
NM_003072.5(SMARCA4):c.162C>A (p.His54Gln)
|
rs1330092211
|
|
|
NM_003072.5(SMARCA4):c.1632G>A (p.Gln544=)
|
rs2145970052
|
|
|
NM_003072.5(SMARCA4):c.1633A>C (p.Lys545Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.163C>G (p.Pro55Ala)
|
rs1218848193
|
|
|
NM_003072.5(SMARCA4):c.1644G>A (p.Lys548=)
|
rs1555763625
|
|
|
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys)
|
rs2087030906
|
|
|
NM_003072.5(SMARCA4):c.1647C>G (p.Arg549=)
|
|
|
|
NM_003072.5(SMARCA4):c.1649del (p.Leu550fs)
|
|
|
|
NM_003072.5(SMARCA4):c.164C>T (p.Pro55Leu)
|
rs747185602
|
|
|
NM_003072.5(SMARCA4):c.1650G>T (p.Leu550=)
|
rs779183392
|
|
|
NM_003072.5(SMARCA4):c.1651G>A (p.Ala551Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1651G>T (p.Ala551Ser)
|
rs2087031286
|
|
|
NM_003072.5(SMARCA4):c.1653C>T (p.Ala551=)
|
rs2145970862
|
|
|
NM_003072.5(SMARCA4):c.1655A>G (p.Tyr552Cys)
|
rs2087031445
|
|
|
NM_003072.5(SMARCA4):c.1656C>T (p.Tyr552=)
|
rs1055237124
|
|
|
NM_003072.5(SMARCA4):c.165C>T (p.Pro55=)
|
|
|
|
NM_003072.5(SMARCA4):c.1662G>A (p.Leu554=)
|
rs1206658090
|
|
|
NM_003072.5(SMARCA4):c.1665G>A (p.Gln555=)
|
rs1600082113
|
|
|
NM_003072.5(SMARCA4):c.1665G>T (p.Gln555His)
|
|
|
|
NM_003072.5(SMARCA4):c.1666C>G (p.Gln556Glu)
|
rs1555763642
|
|
|
NM_003072.5(SMARCA4):c.166A>G (p.Ile56Val)
|
rs2085819103
|
|
|
NM_003072.5(SMARCA4):c.166A>T (p.Ile56Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1671A>G (p.Thr557=)
|
rs2145971479
|
|
|
NM_003072.5(SMARCA4):c.1677G>A (p.Glu559=)
|
rs2145971685
|
|
|
NM_003072.5(SMARCA4):c.1678T>C (p.Tyr560His)
|
|
|
|
NM_003072.5(SMARCA4):c.1680C>G (p.Tyr560Ter)
|
rs375507937
|
|
|
NM_003072.5(SMARCA4):c.1681del (p.Val561fs)
|
rs2087033635
|
|
|
NM_003072.5(SMARCA4):c.1683G>A (p.Val561=)
|
rs2145971916
|
|
|
NM_003072.5(SMARCA4):c.1683G>C (p.Val561=)
|
rs2145971916
|
|
|
NM_003072.5(SMARCA4):c.1686T>G (p.Ala562=)
|
rs750674041
|
|
|
NM_003072.5(SMARCA4):c.1689C>T (p.Asn563=)
|
rs760529658
|
|
|
NM_003072.5(SMARCA4):c.168C>T (p.Ile56=)
|
rs2145725383
|
|
|
NM_003072.5(SMARCA4):c.1692C>G (p.Leu564=)
|
rs1431664778
|
|
|
NM_003072.5(SMARCA4):c.1692C>T (p.Leu564=)
|
rs1431664778
|
|
|
NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala)
|
rs765974121
|
|
|
NM_003072.5(SMARCA4):c.1694C>T (p.Thr565Met)
|
rs1600082359
|
|
|
NM_003072.5(SMARCA4):c.1696G>C (p.Glu566Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1698G>A (p.Glu566=)
|
rs1600082399
|
|
|
NM_003072.5(SMARCA4):c.1699C>A (p.Leu567Met)
|
|
|
|
NM_003072.5(SMARCA4):c.1701G>A (p.Leu567=)
|
|
|
|
NM_003072.5(SMARCA4):c.1702G>A (p.Val568Met)
|
rs1431755388
|
|
|
NM_003072.5(SMARCA4):c.1704G>A (p.Val568=)
|
rs1600082461
|
|
|
NM_003072.5(SMARCA4):c.1705C>T (p.Arg569Trp)
|
rs141090393
|
|
|
NM_003072.5(SMARCA4):c.170C>A (p.Pro57His)
|
|
|
|
NM_003072.5(SMARCA4):c.170C>G (p.Pro57Arg)
|
rs1568417458
|
|
|
NM_003072.5(SMARCA4):c.170C>T (p.Pro57Leu)
|
rs1568417458
|
|
|
NM_003072.5(SMARCA4):c.1713C>T (p.His571=)
|
|
|
|
NM_003072.5(SMARCA4):c.1716G>A (p.Lys572=)
|
rs1600082568
|
|
|
NM_003072.5(SMARCA4):c.1720G>A (p.Ala574Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1722C>G (p.Ala574=)
|
rs1600082615
|
|
|
NM_003072.5(SMARCA4):c.1725G>C (p.Gln575His)
|
rs1441370371
|
|
|
NM_003072.5(SMARCA4):c.1725G>T (p.Gln575His)
|
rs1441370371
|
|
|
NM_003072.5(SMARCA4):c.1726G>T (p.Val576Phe)
|
rs1555763737
|
|
|
NM_003072.5(SMARCA4):c.1728C>G (p.Val576=)
|
|
|
|
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr)
|
rs1369374541
|
|
|
NM_003072.5(SMARCA4):c.1729G>T (p.Ala577Ser)
|
rs1369374541
|
|
|
NM_003072.5(SMARCA4):c.172A>C (p.Thr58Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.1731C>T (p.Ala577=)
|
|
|
|
NM_003072.5(SMARCA4):c.1733A>G (p.Lys578Arg)
|
rs2145973682
|
|
|
NM_003072.5(SMARCA4):c.1735G>A (p.Glu579Lys)
|
rs2145973734
|
|
|
NM_003072.5(SMARCA4):c.1737G>A (p.Glu579=)
|
rs1555763753
|
|
|
NM_003072.5(SMARCA4):c.1739A>T (p.Lys580Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.173C>T (p.Thr58Ile)
|
rs1555750978
|
|
|
NM_003072.5(SMARCA4):c.1740_1742del (p.Lys588del)
|
rs1600082816
|
|
|
NM_003072.5(SMARCA4):c.1742A>C (p.Lys581Thr)
|
rs765139835
|
|
|
NM_003072.5(SMARCA4):c.1742_1745del (p.Lys581fs)
|
|
|
|
NM_003072.5(SMARCA4):c.1743GAA[1] (p.Lys588del)
|
rs747503505
|
|
|
NM_003072.5(SMARCA4):c.1745A>G (p.Lys582Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1748A>C (p.Lys583Thr)
|
rs1043517699
|
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[1] (p.Lys587_Lys588del)
|
rs1600082918
|
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[3] (p.Lys587_Lys588dup)
|
rs1600082918
|
|
|
NM_003072.5(SMARCA4):c.174C>T (p.Thr58=)
|
rs2145725510
|
|
|
NM_003072.5(SMARCA4):c.1751A>G (p.Lys584Arg)
|
rs2087041246
|
|
|
NM_003072.5(SMARCA4):c.1752G>C (p.Lys584Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs)
|
rs2087041072
|
|
|
NM_003072.5(SMARCA4):c.1753A>G (p.Lys585Glu)
|
rs2087041445
|
|
|
NM_003072.5(SMARCA4):c.1754_1757del (p.Lys585fs)
|
rs1555763780
|
|
|
NM_003072.5(SMARCA4):c.1756A>C (p.Lys586Gln)
|
rs2145974399
|
|
|
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)
|
rs1429065030
|
|
|
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)
|
rs1342399494
|
|
|
NM_003072.5(SMARCA4):c.1758G>A (p.Lys586=)
|
rs1555763816
|
|
|
NM_003072.5(SMARCA4):c.1759A>G (p.Lys587Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1761+10G>C
|
rs2145975044
|
|
|
NM_003072.5(SMARCA4):c.1761+10G>T
|
|
|
|
NM_003072.5(SMARCA4):c.1761+12C>A
|
|
|
|
NM_003072.5(SMARCA4):c.1761+14G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1761+15G>A
|
rs373310523
|
|
|
NM_003072.5(SMARCA4):c.1761+16C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1761+19G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1761+20del
|
rs2145975549
|
|
|
NM_003072.5(SMARCA4):c.1761+3G>A
|
rs2087043325
|
|
|
NM_003072.5(SMARCA4):c.1761+5G>A
|
rs1555763822
|
|
|
NM_003072.5(SMARCA4):c.1761+8G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1761+9G>A
|
rs1555763825
|
|
|
NM_003072.5(SMARCA4):c.1761G>A (p.Lys587=)
|
|
|
|
NM_003072.5(SMARCA4):c.1762-10C>G
|
rs754221543
|
|
|
NM_003072.5(SMARCA4):c.1762-10C>T
|
rs754221543
|
|
|
NM_003072.5(SMARCA4):c.1762-12C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1762-12C>T
|
rs759160355
|
|
|
NM_003072.5(SMARCA4):c.1762-14C>G
|
rs1568444073
|
|
|
NM_003072.5(SMARCA4):c.1762-14C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1762-16C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1762-17T>A
|
|
|
|
NM_003072.5(SMARCA4):c.1762-17TC[2]
|
rs748956133
|
|
|
NM_003072.5(SMARCA4):c.1762-17TC[3]
|
rs748956133
|
|
|
NM_003072.5(SMARCA4):c.1762-18G>A
|
rs2145979328
|
|
|
NM_003072.5(SMARCA4):c.1762-1G>A
|
rs2145980126
|
|
|
NM_003072.5(SMARCA4):c.1762-3C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1762-4C>T
|
rs1600084648
|
|
|
NM_003072.5(SMARCA4):c.1762-6T>C
|
rs1389021122
|
|
|
NM_003072.5(SMARCA4):c.1762-7T>C
|
|
|
|
NM_003072.5(SMARCA4):c.1762-8A>C
|
rs757682544
|
|
|
NM_003072.5(SMARCA4):c.1762-8A>G
|
rs757682544
|
|
|
NM_003072.5(SMARCA4):c.1762-9T>G
|
rs1555763918
|
|
|
NM_003072.5(SMARCA4):c.1762-9dup
|
rs1555763920
|
|
|
NM_003072.5(SMARCA4):c.1762A>G (p.Lys588Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1763A>C (p.Lys588Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1764G>A (p.Lys588=)
|
rs960893176
|
|
|
NM_003072.5(SMARCA4):c.1765G>T (p.Ala589Ser)
|
rs765850087
|
|
|
NM_003072.5(SMARCA4):c.1766C>T (p.Ala589Val)
|
rs1555763943
|
|
|
NM_003072.5(SMARCA4):c.1767A>G (p.Ala589=)
|
|
|
|
NM_003072.5(SMARCA4):c.1770A>C (p.Glu590Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1775C>G (p.Ala592Gly)
|
rs1060502064
|
|
|
NM_003072.5(SMARCA4):c.1775C>T (p.Ala592Val)
|
rs1060502064
|
|
|
NM_003072.5(SMARCA4):c.1776A>G (p.Ala592=)
|
rs2145980647
|
|
|
NM_003072.5(SMARCA4):c.1776A>T (p.Ala592=)
|
|
|
|
NM_003072.5(SMARCA4):c.1777G>A (p.Glu593Lys)
|
rs1555763975
|
|
|
NM_003072.5(SMARCA4):c.1777G>C (p.Glu593Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del)
|
rs1484395538
|
|
|
NM_003072.5(SMARCA4):c.177G>A (p.Gln59=)
|
rs868608270
|
|
|
NM_003072.5(SMARCA4):c.1780G>A (p.Gly594Arg)
|
rs2145980749
|
|
|
NM_003072.5(SMARCA4):c.1784A>G (p.Gln595Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1784A>T (p.Gln595Leu)
|
rs2087065585
|
|
|
NM_003072.5(SMARCA4):c.1787C>A (p.Thr596Lys)
|
rs779952581
|
|
|
NM_003072.5(SMARCA4):c.1788G>T (p.Thr596=)
|
rs148055156
|
|
|
NM_003072.5(SMARCA4):c.1789C>A (p.Pro597Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1789C>G (p.Pro597Ala)
|
rs1060502097
|
|
|
NM_003072.5(SMARCA4):c.1789C>T (p.Pro597Ser)
|
rs1060502097
|
|
|
NM_003072.5(SMARCA4):c.1790C>T (p.Pro597Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1792G>A (p.Ala598Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1797T>C (p.Ile599=)
|
|
|
|
NM_003072.5(SMARCA4):c.1799G>A (p.Gly600Glu)
|
rs2145981386
|
|
|
NM_003072.5(SMARCA4):c.179G>T (p.Gly60Val)
|
|
|
|
NM_003072.5(SMARCA4):c.17C>A (p.Pro6Gln)
|
rs750113056
|
|
|
NM_003072.5(SMARCA4):c.1800G>A (p.Gly600=)
|
rs878854202
|
|
|
NM_003072.5(SMARCA4):c.1800G>C (p.Gly600=)
|
rs878854202
|
|
|
NM_003072.5(SMARCA4):c.1802C>T (p.Pro601Leu)
|
rs777544121
|
|
|
NM_003072.5(SMARCA4):c.1804G>A (p.Asp602Asn)
|
rs2087068449
|
|
|
NM_003072.5(SMARCA4):c.1805A>T (p.Asp602Val)
|
rs2087068642
|
|
|
NM_003072.5(SMARCA4):c.180G>A (p.Gly60=)
|
rs1555751006
|
|
|
NM_003072.5(SMARCA4):c.180G>T (p.Gly60=)
|
rs1555751006
|
|
|
NM_003072.5(SMARCA4):c.1810G>A (p.Glu604Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.1812+11A>G
|
|
|
|
NM_003072.5(SMARCA4):c.1812+11del
|
rs2145982263
|
|
|
NM_003072.5(SMARCA4):c.1812+12G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1812+13G>C
|
rs2145982344
|
|
|
NM_003072.5(SMARCA4):c.1812+14G>C
|
|
|
|
NM_003072.5(SMARCA4):c.1812+15T>C
|
rs1600085394
|
|
|
NM_003072.5(SMARCA4):c.1812+18C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1812+20T>G
|
rs1231110417
|
|
|
NM_003072.5(SMARCA4):c.1812+2dup
|
rs2087069139
|
|
|
NM_003072.5(SMARCA4):c.1812+9G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1813-11C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1813-11C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1813-13G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1813-14T>G
|
|
|
|
NM_003072.5(SMARCA4):c.1813-18C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1813-18C>T
|
rs763607731
|
|
|
NM_003072.5(SMARCA4):c.1813-1G>C
|
|
|
|
NM_003072.5(SMARCA4):c.1813-20C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1813-4T>G
|
|
|
|
NM_003072.5(SMARCA4):c.1813-4dup
|
rs1864896196
|
|
|
NM_003072.5(SMARCA4):c.1813-5_1813-4del
|
|
|
|
NM_003072.5(SMARCA4):c.1813-6T>C
|
rs2087804888
|
|
|
NM_003072.5(SMARCA4):c.1813-6_1813-4del
|
rs1864896196
|
|
|
NM_003072.5(SMARCA4):c.1813-9C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1813-9_1813-8del
|
rs1433610927
|
|
|
NM_003072.5(SMARCA4):c.1813C>T (p.Pro605Ser)
|
rs1373012344
|
|
|
NM_003072.5(SMARCA4):c.1816C>G (p.Leu606Val)
|
rs1600132404
|
|
|
NM_003072.5(SMARCA4):c.1818G>A (p.Leu606=)
|
rs2146094508
|
|
|
NM_003072.5(SMARCA4):c.181C>T (p.Pro61Ser)
|
rs1555751015
|
|
|
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val)
|
rs1600132436
|
|
|
NM_003072.5(SMARCA4):c.1821C>A (p.Asp607Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1822G>A (p.Glu608Lys)
|
rs2087806416
|
|
|
NM_003072.5(SMARCA4):c.1827C>T (p.Thr609=)
|
rs1600132492
|
|
|
NM_003072.5(SMARCA4):c.182C>T (p.Pro61Leu)
|
rs2085820972
|
|
|
NM_003072.5(SMARCA4):c.1830C>T (p.Ser610=)
|
rs1600132520
|
|
|
NM_003072.5(SMARCA4):c.1831C>T (p.Gln611Ter)
|
rs1568455217
|
|
|
NM_003072.5(SMARCA4):c.1832A>T (p.Gln611Leu)
|
rs1600132569
|
|
|
NM_003072.5(SMARCA4):c.1833G>A (p.Gln611=)
|
|
|
|
NM_003072.5(SMARCA4):c.1836G>A (p.Met612Ile)
|
rs1600132619
|
|
|
NM_003072.5(SMARCA4):c.1842C>T (p.Asp614=)
|
|
|
|
NM_003072.5(SMARCA4):c.1845C>T (p.Leu615=)
|
rs1555768305
|
|
|
NM_003072.5(SMARCA4):c.1848G>C (p.Pro616=)
|
rs138721614
|
|
|
NM_003072.5(SMARCA4):c.1851G>A (p.Val617=)
|
rs1057252091
|
|
|
NM_003072.5(SMARCA4):c.1853A>C (p.Lys618Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1855G>T (p.Val619Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1856T>C (p.Val619Ala)
|
rs2087809409
|
|
|
NM_003072.5(SMARCA4):c.1857G>T (p.Val619=)
|
|
|
|
NM_003072.5(SMARCA4):c.1860C>G (p.Ile620Met)
|
rs141751028
|
|
|
NM_003072.5(SMARCA4):c.1861C>G (p.His621Asp)
|
rs2087809994
|
|
|
NM_003072.5(SMARCA4):c.186A>G (p.Gly62=)
|
|
|
|
NM_003072.5(SMARCA4):c.1872T>C (p.Ser624=)
|
rs2146096564
|
|
|
NM_003072.5(SMARCA4):c.1875G>A (p.Gly625=)
|
rs2087810760
|
|
|
NM_003072.5(SMARCA4):c.1875G>T (p.Gly625=)
|
rs2087810760
|
|
|
NM_003072.5(SMARCA4):c.1877A>G (p.Lys626Arg)
|
rs2146096765
|
|
|
NM_003072.5(SMARCA4):c.1880T>C (p.Ile627Thr)
|
rs2087810954
|
|
|
NM_003072.5(SMARCA4):c.1881C>G (p.Ile627Met)
|
rs1451914629
|
|
|
NM_003072.5(SMARCA4):c.1881C>T (p.Ile627=)
|
rs1451914629
|
|
|
NM_003072.5(SMARCA4):c.1882C>A (p.Leu628Ile)
|
rs1555768351
|
|
|
NM_003072.5(SMARCA4):c.1882C>T (p.Leu628Phe)
|
rs1555768351
|
|
|
NM_003072.5(SMARCA4):c.1885A>G (p.Thr629Ala)
|
rs2087811842
|
|
|
NM_003072.5(SMARCA4):c.1886C>A (p.Thr629Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.1886C>G (p.Thr629Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1887A>G (p.Thr629=)
|
rs2146097188
|
|
|
NM_003072.5(SMARCA4):c.1889G>C (p.Gly630Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1890C>A (p.Gly630=)
|
rs2087812523
|
|
|
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile)
|
rs1555768365
|
|
|
NM_003072.5(SMARCA4):c.1893A>G (p.Thr631=)
|
rs2146097465
|
|
|
NM_003072.5(SMARCA4):c.1894G>A (p.Asp632Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1896T>A (p.Asp632Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1896T>G (p.Asp632Glu)
|
rs1060502055
|
|
|
NM_003072.5(SMARCA4):c.1897G>A (p.Ala633Thr)
|
rs1555768376
|
|
|
NM_003072.5(SMARCA4):c.1897G>T (p.Ala633Ser)
|
rs1555768376
|
|
|
NM_003072.5(SMARCA4):c.1897_1898delinsAT (p.Ala633Ile)
|
rs1600133041
|
|
|
NM_003072.5(SMARCA4):c.1899C>A (p.Ala633=)
|
rs2146097748
|
|
|
NM_003072.5(SMARCA4):c.1899C>G (p.Ala633=)
|
rs2146097748
|
|
|
NM_003072.5(SMARCA4):c.1899C>T (p.Ala633=)
|
rs2146097748
|
|
|
NM_003072.5(SMARCA4):c.189G>A (p.Gly63=)
|
rs1555751018
|
|
|
NM_003072.5(SMARCA4):c.189G>C (p.Gly63=)
|
rs1555751018
|
|
|
NM_003072.5(SMARCA4):c.189G>T (p.Gly63=)
|
rs1555751018
|
|
|
NM_003072.5(SMARCA4):c.1904A>G (p.Lys635Arg)
|
rs1600133088
|
|
|
NM_003072.5(SMARCA4):c.1905A>G (p.Lys635=)
|
|
|
|
NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro)
|
rs1600133106
|
|
|
NM_003072.5(SMARCA4):c.1908C>A (p.Ala636=)
|
rs548456029
|
|
|
NM_003072.5(SMARCA4):c.1909G>T (p.Gly637Trp)
|
rs917552239
|
|
|
NM_003072.5(SMARCA4):c.1910G>A (p.Gly637Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1911G>A (p.Gly637=)
|
rs1555768411
|
|
|
NM_003072.5(SMARCA4):c.1914G>T (p.Gln638His)
|
rs1555768426
|
|
|
NM_003072.5(SMARCA4):c.1919_1920insTCC (p.Glu640delinsAspPro)
|
|
|
|
NM_003072.5(SMARCA4):c.191A>G (p.Tyr64Cys)
|
rs1599930186
|
|
|
NM_003072.5(SMARCA4):c.191A>T (p.Tyr64Phe)
|
rs1599930186
|
|
|
NM_003072.5(SMARCA4):c.1920G>A (p.Glu640=)
|
|
|
|
NM_003072.5(SMARCA4):c.1920G>T (p.Glu640Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1921G>A (p.Ala641Thr)
|
rs2146098679
|
|
|
NM_003072.5(SMARCA4):c.1923C>G (p.Ala641=)
|
rs1600133373
|
|
|
NM_003072.5(SMARCA4):c.1923C>T (p.Ala641=)
|
rs1600133373
|
|
|
NM_003072.5(SMARCA4):c.1929C>G (p.Leu643=)
|
rs1415322316
|
|
|
NM_003072.5(SMARCA4):c.1929C>T (p.Leu643=)
|
rs1415322316
|
|
|
NM_003072.5(SMARCA4):c.1933A>G (p.Met645Val)
|
rs763375817
|
|
|
NM_003072.5(SMARCA4):c.1934T>G (p.Met645Arg)
|
rs2087816849
|
|
|
NM_003072.5(SMARCA4):c.1938C>T (p.Asn646=)
|
rs1388929594
|
|
|
NM_003072.5(SMARCA4):c.193C>G (p.Pro65Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1943+10G>A
|
rs1485568989
|
|
|
NM_003072.5(SMARCA4):c.1943+10G>C
|
rs1485568989
|
|
|
NM_003072.5(SMARCA4):c.1943+11C>A
|
|
|
|
NM_003072.5(SMARCA4):c.1943+11C>T
|
rs2146100084
|
|
|
NM_003072.5(SMARCA4):c.1943+15G>C
|
|
|
|
NM_003072.5(SMARCA4):c.1943+17A>G
|
rs1436015017
|
|
|
NM_003072.5(SMARCA4):c.1943+1G>A
|
rs2087817491
|
|
|
NM_003072.5(SMARCA4):c.1943+20C>A
|
rs559223589
|
|
|
NM_003072.5(SMARCA4):c.1943+20C>G
|
rs559223589
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>C
|
rs1600133534
|
|
|
NM_003072.5(SMARCA4):c.1943+8G>T
|
rs2087818610
|
|
|
NM_003072.5(SMARCA4):c.1943G>C (p.Gly648Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1944-11A>C
|
rs775612622
|
|
|
NM_003072.5(SMARCA4):c.1944-11A>G
|
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>T
|
rs149763341
|
|
|
NM_003072.5(SMARCA4):c.1944-16C>G
|
rs2087841029
|
|
|
NM_003072.5(SMARCA4):c.1944-17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1944-18C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1944-19G>A
|
rs74942410
|
|
|
NM_003072.5(SMARCA4):c.1944-20A>G
|
|
|
|
NM_003072.5(SMARCA4):c.1944-4C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1944-5del
|
|
|
|
NM_003072.5(SMARCA4):c.1944-5dup
|
rs1555768671
|
|
|
NM_003072.5(SMARCA4):c.1944-6T>C
|
rs1060504459
|
|
|
NM_003072.5(SMARCA4):c.1944-7T>C
|
rs1600135561
|
|
|
NM_003072.5(SMARCA4):c.1946A>T (p.Tyr649Phe)
|
rs2146108000
|
|
|
NM_003072.5(SMARCA4):c.1947_2001+3del
|
|
|
|
NM_003072.5(SMARCA4):c.194C>T (p.Pro65Leu)
|
rs1568417564
|
|
|
NM_003072.5(SMARCA4):c.1950A>G (p.Glu650=)
|
rs1052555853
|
|
|
NM_003072.5(SMARCA4):c.1953A>C (p.Val651=)
|
|
|
|
NM_003072.5(SMARCA4):c.1956T>A (p.Ala652=)
|
rs2146108290
|
|
|
NM_003072.5(SMARCA4):c.1958del (p.Pro653fs)
|
|
|
|
NM_003072.5(SMARCA4):c.1959G>A (p.Pro653=)
|
rs757029847
|
|
|
NM_003072.5(SMARCA4):c.1959G>C (p.Pro653=)
|
rs757029847
|
|
|
NM_003072.5(SMARCA4):c.1962G>A (p.Arg654=)
|
rs762656154
|
|
|
NM_003072.5(SMARCA4):c.1964C>T (p.Ser655Phe)
|
rs1555768701
|
|
|
NM_003072.5(SMARCA4):c.1967A>T (p.Asp656Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1969A>G (p.Ser657Gly)
|
rs1600135788
|
|
|
NM_003072.5(SMARCA4):c.1976A>G (p.Glu659Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.1977A>C (p.Glu659Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1978A>C (p.Ser660Arg)
|
rs2087846584
|
|
|
NM_003072.5(SMARCA4):c.1979G>C (p.Ser660Thr)
|
rs1600135848
|
|
|
NM_003072.5(SMARCA4):c.1981G>A (p.Gly661Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1982G>T (p.Gly661Val)
|
rs367689657
|
|
|
NM_003072.5(SMARCA4):c.1983C>G (p.Gly661=)
|
|
|
|
NM_003072.5(SMARCA4):c.1985C>T (p.Ser662Leu)
|
rs1060502104
|
|
|
NM_003072.5(SMARCA4):c.1986A>C (p.Ser662=)
|
|
|
|
NM_003072.5(SMARCA4):c.1986AGA[2] (p.Glu672del)
|
|
|
|
NM_003072.5(SMARCA4):c.1988A>G (p.Glu663Gly)
|
rs2146109504
|
|
|
NM_003072.5(SMARCA4):c.1994A>C (p.Glu665Ala)
|
rs754483795
|
|
|
NM_003072.5(SMARCA4):c.1994A>G (p.Glu665Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.1995G>A (p.Glu665=)
|
|
|
|
NM_003072.5(SMARCA4):c.1996G>T (p.Glu666Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.1998A>G (p.Glu666=)
|
rs1600136031
|
|
|
NM_003072.5(SMARCA4):c.1999G>A (p.Glu667Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.199G>A (p.Asp67Asn)
|
rs2085821918
|
|
|
NM_003072.5(SMARCA4):c.19C>G (p.Pro7Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2001+11A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2001+11A>T
|
|
|
|
NM_003072.5(SMARCA4):c.2001+12T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2001+15C>T
|
rs2146110407
|
|
|
NM_003072.5(SMARCA4):c.2001+16C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2001+18G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2001+19G>A
|
rs369368895
|
|
|
NM_003072.5(SMARCA4):c.2001+19G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2001+22_2001+30del
|
|
|
|
NM_003072.5(SMARCA4):c.2001+3A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2001+4A>G
|
rs1343722342
|
|
|
NM_003072.5(SMARCA4):c.2001+6A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2001+6_2001+7del
|
rs2087849684
|
|
|
NM_003072.5(SMARCA4):c.2001+8T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2001+9G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2001+9G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2001G>A (p.Glu667=)
|
rs1600136048
|
|
|
NM_003072.5(SMARCA4):c.2001G>C (p.Glu667Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.2002-10C>G
|
rs1568462488
|
|
|
NM_003072.5(SMARCA4):c.2002-10C>T
|
rs1568462488
|
|
|
NM_003072.5(SMARCA4):c.2002-13T>C
|
rs2146189229
|
|
|
NM_003072.5(SMARCA4):c.2002-14T>A
|
|
|
|
NM_003072.5(SMARCA4):c.2002-17G>A
|
rs2146189048
|
|
|
NM_003072.5(SMARCA4):c.2002-18G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2002-1G>A
|
rs2146189762
|
|
|
NM_003072.5(SMARCA4):c.2002-20A>G
|
rs369922926
|
|
|
NM_003072.5(SMARCA4):c.2002-2A>G
|
rs1568462513
|
|
|
NM_003072.5(SMARCA4):c.2002-4G>C
|
|
|
|
NM_003072.5(SMARCA4):c.2002-5G>C
|
|
|
|
NM_003072.5(SMARCA4):c.2002-5_2002-3del
|
|
|
|
NM_003072.5(SMARCA4):c.2002-625_2124-1045del
|
|
|
|
NM_003072.5(SMARCA4):c.2002-9T>C
|
rs1600167148
|
|
|
NM_003072.5(SMARCA4):c.2002G>A (p.Glu668Lys)
|
rs1060502105
|
|
|
NM_003072.5(SMARCA4):c.2002G>C (p.Glu668Gln)
|
rs1060502105
|
|
|
NM_003072.5(SMARCA4):c.2004G>A (p.Glu668=)
|
|
|
|
NM_003072.5(SMARCA4):c.2006A>G (p.Glu669Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2006A>T (p.Glu669Val)
|
rs1600167346
|
|
|
NM_003072.5(SMARCA4):c.2007G>A (p.Glu669=)
|
|
|
|
NM_003072.5(SMARCA4):c.2008G>C (p.Glu670Gln)
|
rs1222324445
|
|
|
NM_003072.5(SMARCA4):c.2009A>G (p.Glu670Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2010G>A (p.Glu670=)
|
rs1600167421
|
|
|
NM_003072.5(SMARCA4):c.2011G>A (p.Glu671Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.2012A>G (p.Glu671Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2014G>A (p.Glu672Lys)
|
rs2088394203
|
|
|
NM_003072.5(SMARCA4):c.2015A>T (p.Glu672Val)
|
rs1600167444
|
|
|
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp)
|
rs772356536
|
|
|
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.2019G>A (p.Gln673=)
|
rs1463911723
|
|
|
NM_003072.5(SMARCA4):c.2019G>T (p.Gln673His)
|
|
|
|
NM_003072.5(SMARCA4):c.201C>T (p.Asp67=)
|
|
|
|
NM_003072.5(SMARCA4):c.2022G>A (p.Pro674=)
|
rs539865173
|
|
|
NM_003072.5(SMARCA4):c.2023C>G (p.Gln675Glu)
|
rs2146190601
|
|
|
NM_003072.5(SMARCA4):c.2024A>T (p.Gln675Leu)
|
rs1299276425
|
|
|
NM_003072.5(SMARCA4):c.2025G>T (p.Gln675His)
|
|
|
|
NM_003072.5(SMARCA4):c.2026G>A (p.Ala676Thr)
|
rs2146190685
|
|
|
NM_003072.5(SMARCA4):c.2027C>T (p.Ala676Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr)
|
rs2088396631
|
|
|
NM_003072.5(SMARCA4):c.202A>T (p.Asn68Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.2030C>G (p.Ala677Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter)
|
rs1555771571
|
|
|
NM_003072.5(SMARCA4):c.2033A>T (p.Gln678Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2035C>G (p.Pro679Ala)
|
rs770115402
|
|
|
NM_003072.5(SMARCA4):c.2036C>G (p.Pro679Arg)
|
rs1555771583
|
|
|
NM_003072.5(SMARCA4):c.2036C>T (p.Pro679Leu)
|
rs1555771583
|
|
|
NM_003072.5(SMARCA4):c.2037T>C (p.Pro679=)
|
rs2146191084
|
|
|
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
|
|
|
|
NM_003072.5(SMARCA4):c.2039C>T (p.Pro680Leu)
|
rs1600167712
|
|
|
NM_003072.5(SMARCA4):c.203A>G (p.Asn68Ser)
|
rs2145726484
|
|
|
NM_003072.5(SMARCA4):c.2040C>T (p.Pro680=)
|
|
|
|
NM_003072.5(SMARCA4):c.2042C>T (p.Thr681Ile)
|
rs2088398438
|
|
|
NM_003072.5(SMARCA4):c.2043C>T (p.Thr681=)
|
rs1255206893
|
|
|
NM_003072.5(SMARCA4):c.2044C>A (p.Leu682Met)
|
rs773252889
|
|
|
NM_003072.5(SMARCA4):c.2046G>A (p.Leu682=)
|
|
|
|
NM_003072.5(SMARCA4):c.2046G>T (p.Leu682=)
|
rs1555771596
|
|
|
NM_003072.5(SMARCA4):c.2048C>G (p.Pro683Arg)
|
rs878854203
|
|
|
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu)
|
rs878854203
|
|
|
NM_003072.5(SMARCA4):c.204C>T (p.Asn68=)
|
|
|
|
NM_003072.5(SMARCA4):c.2051T>C (p.Val684Ala)
|
rs979444190
|
|
|
NM_003072.5(SMARCA4):c.2053G>A (p.Glu685Lys)
|
rs1600167970
|
|
|
NM_003072.5(SMARCA4):c.2053GAG[1] (p.Glu686del)
|
|
|
|
NM_003072.5(SMARCA4):c.2056G>A (p.Glu686Lys)
|
rs1555771625
|
|
|
NM_003072.5(SMARCA4):c.2056G>T (p.Glu686Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.2057A>G (p.Glu686Gly)
|
rs924158571
|
|
|
NM_003072.5(SMARCA4):c.2057AGA[3] (p.Lys689del)
|
rs765524239
|
|
|
NM_003072.5(SMARCA4):c.2058G>A (p.Glu686=)
|
rs1461330572
|
|
|
NM_003072.5(SMARCA4):c.2059A>G (p.Lys687Glu)
|
rs751565055
|
|
|
NM_003072.5(SMARCA4):c.2061G>T (p.Lys687Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.2062A>T (p.Lys688Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.2067G>C (p.Lys689Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.2067G>T (p.Lys689Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.2069T>C (p.Ile690Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2071C>T (p.Pro691Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2072C>T (p.Pro691Leu)
|
rs2146192320
|
|
|
NM_003072.5(SMARCA4):c.2073A>G (p.Pro691=)
|
|
|
|
NM_003072.5(SMARCA4):c.2076T>C (p.Asp692=)
|
rs878854204
|
|
|
NM_003072.5(SMARCA4):c.2078C>G (p.Pro693Arg)
|
rs2088404188
|
|
|
NM_003072.5(SMARCA4):c.2079A>G (p.Pro693=)
|
|
|
|
NM_003072.5(SMARCA4):c.207G>A (p.Met69Ile)
|
rs754815286
|
|
|
NM_003072.5(SMARCA4):c.207G>T (p.Met69Ile)
|
rs754815286
|
|
|
NM_003072.5(SMARCA4):c.2082C>G (p.Asp694Glu)
|
rs373420556
|
|
|
NM_003072.5(SMARCA4):c.2083A>G (p.Ser695Gly)
|
rs2088404711
|
|
|
NM_003072.5(SMARCA4):c.2084G>A (p.Ser695Asn)
|
rs755519197
|
|
|
NM_003072.5(SMARCA4):c.2088T>A (p.Asp696Glu)
|
rs1600168312
|
|
|
NM_003072.5(SMARCA4):c.208C>G (p.His70Asp)
|
rs1266506498
|
|
|
NM_003072.5(SMARCA4):c.2091C>A (p.Asp697Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)
|
rs1600168349
|
|
|
NM_003072.5(SMARCA4):c.2096C>G (p.Ser699Cys)
|
rs2088406134
|
|
|
NM_003072.5(SMARCA4):c.2097T>C (p.Ser699=)
|
|
|
|
NM_003072.5(SMARCA4):c.209A>C (p.His70Pro)
|
rs1568417600
|
|
|
NM_003072.5(SMARCA4):c.20C>A (p.Pro7His)
|
rs1568416569
|
|
|
NM_003072.5(SMARCA4):c.20C>G (p.Pro7Arg)
|
rs1568416569
|
|
|
NM_003072.5(SMARCA4):c.2100G>A (p.Glu700=)
|
|
|
|
NM_003072.5(SMARCA4):c.2102T>G (p.Val701Gly)
|
rs1307425251
|
|
|
NM_003072.5(SMARCA4):c.2104G>T (p.Asp702Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.2107G>A (p.Ala703Thr)
|
rs1555771662
|
|
|
NM_003072.5(SMARCA4):c.2107G>T (p.Ala703Ser)
|
rs1555771662
|
|
|
NM_003072.5(SMARCA4):c.2108C>T (p.Ala703Val)
|
rs550731833
|
|
|
NM_003072.5(SMARCA4):c.2109G>A (p.Ala703=)
|
rs376562928
|
|
|
NM_003072.5(SMARCA4):c.2109G>C (p.Ala703=)
|
|
|
|
NM_003072.5(SMARCA4):c.2109G>T (p.Ala703=)
|
rs376562928
|
|
|
NM_003072.5(SMARCA4):c.210C>A (p.His70Gln)
|
rs1599930337
|
|
|
NM_003072.5(SMARCA4):c.210C>T (p.His70=)
|
rs1599930337
|
|
|
NM_003072.5(SMARCA4):c.2111G>A (p.Arg704Gln)
|
rs1248744047
|
|
|
NM_003072.5(SMARCA4):c.2111_2115del (p.Arg704fs)
|
rs2146193795
|
|
|
NM_003072.5(SMARCA4):c.2115C>T (p.His705=)
|
rs1476458284
|
|
|
NM_003072.5(SMARCA4):c.2119_2121del (p.Ile707del)
|
rs1555771687
|
|
|
NM_003072.5(SMARCA4):c.2120T>C (p.Ile707Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2121T>C (p.Ile707=)
|
rs1555771694
|
|
|
NM_003072.5(SMARCA4):c.2123+13G>T
|
rs373148510
|
|
|
NM_003072.5(SMARCA4):c.2123+14A>T
|
rs1600168743
|
|
|
NM_003072.5(SMARCA4):c.2123+15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2123+17C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2123+18A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2123+7G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2123+8G>A
|
rs2146194533
|
|
|
NM_003072.5(SMARCA4):c.2123+8G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2123+9T>C
|
rs2146194591
|
|
|
NM_003072.5(SMARCA4):c.2124-11C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2124-13A>C
|
|
|
|
NM_003072.5(SMARCA4):c.2124-13A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2124-14C>T
|
rs1315620591
|
|
|
NM_003072.5(SMARCA4):c.2124-15C>G
|
rs1402030008
|
|
|
NM_003072.5(SMARCA4):c.2124-18C>A
|
rs756940108
|
|
|
NM_003072.5(SMARCA4):c.2124-18C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2124-19A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2124-20C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2124-2A>G
|
rs2088710706
|
|
|
NM_003072.5(SMARCA4):c.2124-3C>T
|
rs1555773222
|
|
|
NM_003072.5(SMARCA4):c.2124-3del
|
rs1555773218
|
|
|
NM_003072.5(SMARCA4):c.2124-6_2124-4dup
|
rs1315418086
|
|
|
NM_003072.5(SMARCA4):c.2124-8A>G
|
rs751976723
|
|
|
NM_003072.5(SMARCA4):c.2124-8A>T
|
rs751976723
|
|
|
NM_003072.5(SMARCA4):c.2124-8_2124-5del
|
rs1600187629
|
|
|
NM_003072.5(SMARCA4):c.2124-9C>T
|
rs1415800050
|
|
|
NM_003072.5(SMARCA4):c.2127T>C (p.Asn709=)
|
rs1555773230
|
|
|
NM_003072.5(SMARCA4):c.212A>G (p.Gln71Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys)
|
rs1555751056
|
|
|
NM_003072.5(SMARCA4):c.2132A>G (p.Lys711Arg)
|
rs1555773235
|
|
|
NM_003072.5(SMARCA4):c.2132A>T (p.Lys711Met)
|
rs1555773235
|
|
|
NM_003072.5(SMARCA4):c.2133G>A (p.Lys711=)
|
rs2146233594
|
|
|
NM_003072.5(SMARCA4):c.2136A>G (p.Gln712=)
|
rs2146233674
|
|
|
NM_003072.5(SMARCA4):c.2139T>C (p.Asp713=)
|
rs2146233777
|
|
|
NM_003072.5(SMARCA4):c.213G>C (p.Gln71His)
|
rs1489673789
|
|
|
NM_003072.5(SMARCA4):c.2140G>A (p.Val714Ile)
|
rs2088711962
|
|
|
NM_003072.5(SMARCA4):c.2145T>C (p.Asp715=)
|
rs2146234038
|
|
|
NM_003072.5(SMARCA4):c.2145TGA[1] (p.Asp716del)
|
|
|
|
NM_003072.5(SMARCA4):c.2148T>C (p.Asp716=)
|
rs2146234166
|
|
|
NM_003072.5(SMARCA4):c.2149G>T (p.Glu717Ter)
|
rs2146234214
|
|
|
NM_003072.5(SMARCA4):c.214A>G (p.Met72Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2154T>C (p.Tyr718=)
|
rs2146234420
|
|
|
NM_003072.5(SMARCA4):c.2155G>A (p.Gly719Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2155G>C (p.Gly719Arg)
|
rs2088712670
|
|
|
NM_003072.5(SMARCA4):c.2156G>A (p.Gly719Asp)
|
rs2088712889
|
|
|
NM_003072.5(SMARCA4):c.2156G>C (p.Gly719Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2157C>G (p.Gly719=)
|
rs756240718
|
|
|
NM_003072.5(SMARCA4):c.2158G>A (p.Val720Met)
|
rs1555773256
|
|
|
NM_003072.5(SMARCA4):c.2161T>C (p.Ser721Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.2162C>G (p.Ser721Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2162_2163delinsGT (p.Ser721Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2163C>T (p.Ser721=)
|
rs1555773262
|
|
|
NM_003072.5(SMARCA4):c.2164C>T (p.Gln722Ter)
|
rs1555773269
|
|
|
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2166G>A (p.Gln722=)
|
rs1555773282
|
|
|
NM_003072.5(SMARCA4):c.2169C>T (p.Ala723=)
|
|
|
|
NM_003072.5(SMARCA4):c.216G>A (p.Met72Ile)
|
rs1568417674
|
|
|
NM_003072.5(SMARCA4):c.2170C>G (p.Leu724Val)
|
rs2088715054
|
|
|
NM_003072.5(SMARCA4):c.2173G>C (p.Ala725Pro)
|
rs2146235353
|
|
|
NM_003072.5(SMARCA4):c.2181C>A (p.Gly727=)
|
|
|
|
NM_003072.5(SMARCA4):c.2187G>A (p.Gln729=)
|
rs2146236007
|
|
|
NM_003072.5(SMARCA4):c.2187G>T (p.Gln729His)
|
rs2146236007
|
|
|
NM_003072.5(SMARCA4):c.218A>T (p.His73Leu)
|
rs748147246
|
|
|
NM_003072.5(SMARCA4):c.2194T>C (p.Tyr732His)
|
|
|
|
NM_003072.5(SMARCA4):c.2195A>G (p.Tyr732Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2195A>T (p.Tyr732Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.219C>T (p.His73=)
|
|
|
|
NM_003072.5(SMARCA4):c.21C>G (p.Pro7=)
|
rs2085802743
|
|
|
NM_003072.5(SMARCA4):c.2202G>A (p.Val734=)
|
|
|
|
NM_003072.5(SMARCA4):c.2202G>C (p.Val734=)
|
|
|
|
NM_003072.5(SMARCA4):c.2209G>A (p.Ala737Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2212G>T (p.Val738Phe)
|
rs370273427
|
|
|
NM_003072.5(SMARCA4):c.2214C>G (p.Val738=)
|
|
|
|
NM_003072.5(SMARCA4):c.2215A>G (p.Thr739Ala)
|
rs2146237158
|
|
|
NM_003072.5(SMARCA4):c.2216C>G (p.Thr739Ser)
|
rs2088718305
|
|
|
NM_003072.5(SMARCA4):c.2216C>T (p.Thr739Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.2217T>C (p.Thr739=)
|
rs1600188473
|
|
|
NM_003072.5(SMARCA4):c.222+16C>A
|
|
|
|
NM_003072.5(SMARCA4):c.222+19G>C
|
rs759047953
|
|
|
NM_003072.5(SMARCA4):c.222+19G>T
|
rs759047953
|
|
|
NM_003072.5(SMARCA4):c.222+20C>T
|
|
|
|
NM_003072.5(SMARCA4):c.222+2_222+5del
|
|
|
|
NM_003072.5(SMARCA4):c.222+3A>G
|
rs2145727267
|
|
|
NM_003072.5(SMARCA4):c.222+5G>A
|
rs1555751086
|
|
|
NM_003072.5(SMARCA4):c.222+5G>C
|
rs1555751086
|
|
|
NM_003072.5(SMARCA4):c.222+6G>T
|
rs769669992
|
|
|
NM_003072.5(SMARCA4):c.222+6del
|
|
|
|
NM_003072.5(SMARCA4):c.222+7A>G
|
rs1555751093
|
|
|
NM_003072.5(SMARCA4):c.222+7A>T
|
|
|
|
NM_003072.5(SMARCA4):c.222+9C>A
|
rs1477506632
|
|
|
NM_003072.5(SMARCA4):c.2221A>G (p.Arg741Gly)
|
rs1555773339
|
|
|
NM_003072.5(SMARCA4):c.2227G>A (p.Asp743Asn)
|
rs2146237488
|
|
|
NM_003072.5(SMARCA4):c.2227G>C (p.Asp743His)
|
rs2146237488
|
|
|
NM_003072.5(SMARCA4):c.222G>A (p.Lys74=)
|
|
|
|
NM_003072.5(SMARCA4):c.223-11C>G
|
rs1555751898
|
|
|
NM_003072.5(SMARCA4):c.223-11C>T
|
rs1555751898
|
|
|
NM_003072.5(SMARCA4):c.223-12T>C
|
|
|
|
NM_003072.5(SMARCA4):c.223-14G>T
|
rs2145747300
|
|
|
NM_003072.5(SMARCA4):c.223-15T>C
|
|
|
|
NM_003072.5(SMARCA4):c.223-17C>G
|
rs2145747151
|
|
|
NM_003072.5(SMARCA4):c.223-17C>T
|
rs2145747151
|
|
|
NM_003072.5(SMARCA4):c.223-17del
|
|
|
|
NM_003072.5(SMARCA4):c.223-19G>A
|
rs2145746994
|
|
|
NM_003072.5(SMARCA4):c.223-19del
|
|
|
|
NM_003072.5(SMARCA4):c.223-20T>A
|
|
|
|
NM_003072.5(SMARCA4):c.223-20T>C
|
rs1568419559
|
|
|
NM_003072.5(SMARCA4):c.223-4G>A
|
rs763383326
|
|
|
NM_003072.5(SMARCA4):c.223-4G>T
|
rs763383326
|
|
|
NM_003072.5(SMARCA4):c.223-8T>C
|
|
|
|
NM_003072.5(SMARCA4):c.223-9C>T
|
rs569296824
|
|
|
NM_003072.5(SMARCA4):c.2230A>G (p.Lys744Glu)
|
rs771723542
|
|
|
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn)
|
rs886054153
|
|
|
NM_003072.5(SMARCA4):c.2238A>G (p.Ser746=)
|
rs1156401460
|
|
|
NM_003072.5(SMARCA4):c.2242C>T (p.Leu748Phe)
|
rs2088720910
|
|
|
NM_003072.5(SMARCA4):c.2246T>C (p.Met749Thr)
|
rs1555773400
|
|
|
NM_003072.5(SMARCA4):c.2247G>C (p.Met749Ile)
|
rs2088721594
|
|
|
NM_003072.5(SMARCA4):c.2248G>T (p.Val750Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.2248_2249insGGG (p.Met749_Val750insGly)
|
rs2088721909
|
|
|
NM_003072.5(SMARCA4):c.2249T>A (p.Val750Asp)
|
rs572673381
|
|
|
NM_003072.5(SMARCA4):c.2251A>C (p.Asn751His)
|
|
|
|
NM_003072.5(SMARCA4):c.2255G>A (p.Gly752Asp)
|
rs2088722543
|
|
|
NM_003072.5(SMARCA4):c.2259C>T (p.Val753=)
|
rs1060504440
|
|
|
NM_003072.5(SMARCA4):c.225C>T (p.Pro75=)
|
rs2145748071
|
|
|
NM_003072.5(SMARCA4):c.2262C>T (p.Leu754=)
|
rs1600188816
|
|
|
NM_003072.5(SMARCA4):c.2263A>G (p.Lys755Glu)
|
rs2146238910
|
|
|
NM_003072.5(SMARCA4):c.2265A>G (p.Lys755=)
|
rs2146238997
|
|
|
NM_003072.5(SMARCA4):c.2265dup (p.Gln756fs)
|
|
|
|
NM_003072.5(SMARCA4):c.2266C>T (p.Gln756Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.226A>G (p.Met76Val)
|
rs1225673675
|
|
|
NM_003072.5(SMARCA4):c.2274+10G>C
|
rs1414642513
|
|
|
NM_003072.5(SMARCA4):c.2274+10G>T
|
rs1414642513
|
|
|
NM_003072.5(SMARCA4):c.2274+12G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2274+12_2274+13del
|
rs878854205
|
|
|
NM_003072.5(SMARCA4):c.2274+13G>T
|
rs764057604
|
|
|
NM_003072.5(SMARCA4):c.2274+15G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2274+15G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2274+18G>C
|
|
|
|
NM_003072.5(SMARCA4):c.2274+18G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2274+1G>C
|
rs867740591
|
|
|
NM_003072.5(SMARCA4):c.2274+1G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2274+5G>A
|
rs775519333
|
|
|
NM_003072.5(SMARCA4):c.2274+6G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2274+6G>C
|
rs1555773425
|
|
|
NM_003072.5(SMARCA4):c.2274+6dup
|
|
|
|
NM_003072.5(SMARCA4):c.2274+7T>A
|
|
|
|
NM_003072.5(SMARCA4):c.2274+7T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2274+8A>G
|
rs773310711
|
|
|
NM_003072.5(SMARCA4):c.2274+8del
|
rs752010847
|
|
|
NM_003072.5(SMARCA4):c.2274+9_2274+10delinsAA
|
rs1555773436
|
|
|
NM_003072.5(SMARCA4):c.2275-10G>C
|
rs375787249
|
|
|
NM_003072.5(SMARCA4):c.2275-11T>G
|
rs2146275986
|
|
|
NM_003072.5(SMARCA4):c.2275-12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2275-15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2275-16G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2275-17C>G
|
rs201752124
|
|
|
NM_003072.5(SMARCA4):c.2275-17C>T
|
rs201752124
|
|
|
NM_003072.5(SMARCA4):c.2275-18C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2275-19G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2275-3C>G
|
rs117611401
|
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
|
NM_003072.5(SMARCA4):c.2275-4G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2275-6T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2275-6_2275-5dup
|
|
|
|
NM_003072.5(SMARCA4):c.2275-7C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2275-9T>A
|
rs1600208664
|
|
|
NM_003072.5(SMARCA4):c.2276T>C (p.Ile759Thr)
|
rs878854206
|
|
|
NM_003072.5(SMARCA4):c.2277C>G (p.Ile759Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2279A>C (p.Lys760Thr)
|
rs2088998992
|
|
|
NM_003072.5(SMARCA4):c.2279A>G (p.Lys760Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.227T>C (p.Met76Thr)
|
rs1599940473
|
|
|
NM_003072.5(SMARCA4):c.2280A>G (p.Lys760=)
|
rs1555774628
|
|
|
NM_003072.5(SMARCA4):c.2281_2282delinsAA (p.Gly761Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.2282G>A (p.Gly761Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.2289G>A (p.Glu763=)
|
|
|
|
NM_003072.5(SMARCA4):c.228G>C (p.Met76Ile)
|
rs2085924643
|
|
|
NM_003072.5(SMARCA4):c.2291G>A (p.Trp764Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter)
|
rs2088999811
|
|
|
NM_003072.5(SMARCA4):c.2297T>G (p.Val766Gly)
|
rs201128299
|
|
|
NM_003072.5(SMARCA4):c.2298G>A (p.Val766=)
|
|
|
|
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)
|
rs1568419675
|
|
|
NM_003072.5(SMARCA4):c.229_237del (p.Glu77_Met79del)
|
|
|
|
NM_003072.5(SMARCA4):c.22C>A (p.Leu8Met)
|
|
|
|
NM_003072.5(SMARCA4):c.22C>T (p.Leu8=)
|
rs1555750596
|
|
|
NM_003072.5(SMARCA4):c.2301C>T (p.Ser767=)
|
rs1463234412
|
|
|
NM_003072.5(SMARCA4):c.2303T>C (p.Leu768Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.2304G>C (p.Leu768=)
|
rs772638166
|
|
|
NM_003072.5(SMARCA4):c.2308A>G (p.Asn770Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.2310C>A (p.Asn770Lys)
|
rs2146277679
|
|
|
NM_003072.5(SMARCA4):c.2310C>T (p.Asn770=)
|
rs2146277679
|
|
|
NM_003072.5(SMARCA4):c.2313C>T (p.Asn771=)
|
|
|
|
NM_003072.5(SMARCA4):c.2314A>G (p.Asn772Asp)
|
rs2146277781
|
|
|
NM_003072.5(SMARCA4):c.2316C>T (p.Asn772=)
|
rs770548403
|
|
|
NM_003072.5(SMARCA4):c.2319G>C (p.Leu773=)
|
|
|
|
NM_003072.5(SMARCA4):c.2323G>A (p.Gly775Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2329del (p.Leu777fs)
|
rs1555774702
|
|
|
NM_003072.5(SMARCA4):c.232T>C (p.Ser78Pro)
|
rs878854207
|
|
|
NM_003072.5(SMARCA4):c.232T>G (p.Ser78Ala)
|
rs878854207
|
|
|
NM_003072.5(SMARCA4):c.2331G>A (p.Leu777=)
|
rs2146278339
|
|
|
NM_003072.5(SMARCA4):c.2338G>A (p.Glu780Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.233C>A (p.Ser78Tyr)
|
rs1555751949
|
|
|
NM_003072.5(SMARCA4):c.233C>T (p.Ser78Phe)
|
rs1555751949
|
|
|
NM_003072.5(SMARCA4):c.2341A>T (p.Met781Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2346C>G (p.Gly782=)
|
rs1555774704
|
|
|
NM_003072.5(SMARCA4):c.2346C>T (p.Gly782=)
|
rs1555774704
|
|
|
NM_003072.5(SMARCA4):c.2349G>A (p.Leu783=)
|
rs1555774716
|
|
|
NM_003072.5(SMARCA4):c.2349G>C (p.Leu783=)
|
|
|
|
NM_003072.5(SMARCA4):c.234C>A (p.Ser78=)
|
rs1568419701
|
|
|
NM_003072.5(SMARCA4):c.234C>T (p.Ser78=)
|
rs1568419701
|
|
|
NM_003072.5(SMARCA4):c.2350G>T (p.Gly784Trp)
|
rs2146279050
|
|
|
NM_003072.5(SMARCA4):c.2352G>A (p.Gly784=)
|
|
|
|
NM_003072.5(SMARCA4):c.2358C>G (p.Thr786=)
|
rs1600209422
|
|
|
NM_003072.5(SMARCA4):c.235A>T (p.Met79Leu)
|
rs767638396
|
|
|
NM_003072.5(SMARCA4):c.2361C>A (p.Ile787=)
|
|
|
|
NM_003072.5(SMARCA4):c.2361C>T (p.Ile787=)
|
rs1555774725
|
|
|
NM_003072.5(SMARCA4):c.2363A>G (p.Gln788Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2364G>A (p.Gln788=)
|
rs1270959049
|
|
|
NM_003072.5(SMARCA4):c.2367C>A (p.Thr789=)
|
rs2146279532
|
|
|
NM_003072.5(SMARCA4):c.2368A>G (p.Ile790Val)
|
|
|
|
NM_003072.5(SMARCA4):c.236T>C (p.Met79Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2370C>A (p.Ile790=)
|
rs144693208
|
|
|
NM_003072.5(SMARCA4):c.2371G>A (p.Ala791Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2372C>T (p.Ala791Val)
|
rs1263140481
|
|
|
NM_003072.5(SMARCA4):c.2373G>T (p.Ala791=)
|
rs995214932
|
|
|
NM_003072.5(SMARCA4):c.2374C>G (p.Leu792Val)
|
rs2146279816
|
|
|
NM_003072.5(SMARCA4):c.2376C>T (p.Leu792=)
|
rs568699320
|
|
|
NM_003072.5(SMARCA4):c.237G>A (p.Met79Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.2380A>T (p.Thr794Ser)
|
rs2089006879
|
|
|
NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met)
|
rs1193519882
|
|
|
NM_003072.5(SMARCA4):c.2382G>T (p.Thr794=)
|
rs373048420
|
|
|
NM_003072.5(SMARCA4):c.2385C>A (p.Tyr795Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.2385C>T (p.Tyr795=)
|
rs878854208
|
|
|
NM_003072.5(SMARCA4):c.2390T>C (p.Met797Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2394G>A (p.Glu798=)
|
rs1555774749
|
|
|
NM_003072.5(SMARCA4):c.2394G>T (p.Glu798Asp)
|
rs1555774749
|
|
|
NM_003072.5(SMARCA4):c.239A>G (p.His80Arg)
|
rs2145748661
|
|
|
NM_003072.5(SMARCA4):c.239A>T (p.His80Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.23T>G (p.Leu8Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2400A>G (p.Lys800=)
|
|
|
|
NM_003072.5(SMARCA4):c.2401C>T (p.Arg801Cys)
|
rs2089008771
|
|
|
NM_003072.5(SMARCA4):c.2402G>A (p.Arg801His)
|
rs1568471266
|
|
|
NM_003072.5(SMARCA4):c.2404A>C (p.Ile802Leu)
|
rs1454445195
|
|
|
NM_003072.5(SMARCA4):c.2407A>T (p.Asn803Tyr)
|
rs2089009656
|
|
|
NM_003072.5(SMARCA4):c.2408A>G (p.Asn803Ser)
|
rs2146280868
|
|
|
NM_003072.5(SMARCA4):c.2416T>A (p.Phe806Ile)
|
rs2089010016
|
|
|
NM_003072.5(SMARCA4):c.2418C>A (p.Phe806Leu)
|
rs770432256
|
|
|
NM_003072.5(SMARCA4):c.2421C>G (p.Leu807=)
|
rs1178526136
|
|
|
NM_003072.5(SMARCA4):c.2423T>G (p.Ile808Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2424C>T (p.Ile808=)
|
rs1060504452
|
|
|
NM_003072.5(SMARCA4):c.2425A>G (p.Ile809Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2428G>T (p.Val810Leu)
|
rs1060502056
|
|
|
NM_003072.5(SMARCA4):c.2430G>A (p.Val810=)
|
rs2146281550
|
|
|
NM_003072.5(SMARCA4):c.2430G>C (p.Val810=)
|
|
|
|
NM_003072.5(SMARCA4):c.2433T>C (p.Pro811=)
|
rs1600210118
|
|
|
NM_003072.5(SMARCA4):c.2436C>G (p.Leu812=)
|
|
|
|
NM_003072.5(SMARCA4):c.2436C>T (p.Leu812=)
|
rs1600210146
|
|
|
NM_003072.5(SMARCA4):c.2438+10del
|
|
|
|
NM_003072.5(SMARCA4):c.2438+12C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2438+12C>T
|
rs2146282315
|
|
|
NM_003072.5(SMARCA4):c.2438+13T>C
|
rs2146282360
|
|
|
NM_003072.5(SMARCA4):c.2438+13_2438+14insCAC
|
|
|
|
NM_003072.5(SMARCA4):c.2438+14G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2438+15C>A
|
|
|
|
NM_003072.5(SMARCA4):c.2438+15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2438+16C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2438+18G>A
|
rs2146282608
|
|
|
NM_003072.5(SMARCA4):c.2438+19C>A
|
rs762977031
|
|
|
NM_003072.5(SMARCA4):c.2438+19C>G
|
rs762977031
|
|
|
NM_003072.5(SMARCA4):c.2438+1G>A
|
rs1555774786
|
|
|
NM_003072.5(SMARCA4):c.2438+3G>T
|
rs759309497
|
|
|
NM_003072.5(SMARCA4):c.2438+7A>G
|
rs1320749769
|
|
|
NM_003072.5(SMARCA4):c.2438+8C>T
|
rs777197996
|
|
|
NM_003072.5(SMARCA4):c.2438+9C>A
|
rs1262002307
|
|
|
NM_003072.5(SMARCA4):c.2438+9C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2439-10G>A
|
rs1060504469
|
|
|
NM_003072.5(SMARCA4):c.2439-10G>T
|
rs1060504469
|
|
|
NM_003072.5(SMARCA4):c.2439-12T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2439-14C>T
|
rs2146358664
|
|
|
NM_003072.5(SMARCA4):c.2439-18A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2439-18A>T
|
|
|
|
NM_003072.5(SMARCA4):c.2439-19C>G
|
rs2146358495
|
|
|
NM_003072.5(SMARCA4):c.2439-19C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2439-4T>C
|
rs1060504430
|
|
|
NM_003072.5(SMARCA4):c.2439-5A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2439-5A>T
|
rs2089619973
|
|
|
NM_003072.5(SMARCA4):c.2439-9T>C
|
|
|
|
NM_003072.5(SMARCA4):c.243G>A (p.Glu81=)
|
rs1060504435
|
|
|
NM_003072.5(SMARCA4):c.243G>T (p.Glu81Asp)
|
rs1060504435
|
|
|
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met)
|
rs2089620653
|
|
|
NM_003072.5(SMARCA4):c.2443C>T (p.Leu815=)
|
rs1600251895
|
|
|
NM_003072.5(SMARCA4):c.2448C>A (p.Ser816=)
|
rs1600251920
|
|
|
NM_003072.5(SMARCA4):c.2448C>T (p.Ser816=)
|
|
|
|
NM_003072.5(SMARCA4):c.2450A>G (p.Asn817Ser)
|
rs2146359567
|
|
|
NM_003072.5(SMARCA4):c.2451C>T (p.Asn817=)
|
|
|
|
NM_003072.5(SMARCA4):c.2455G>A (p.Ala819Thr)
|
rs767743765
|
|
|
NM_003072.5(SMARCA4):c.245A>G (p.Lys82Arg)
|
rs2085926327
|
|
|
NM_003072.5(SMARCA4):c.2464T>C (p.Phe822Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2469C>G (p.Asp823Glu)
|
rs1568481575
|
|
|
NM_003072.5(SMARCA4):c.2471A>G (p.Lys824Arg)
|
rs2089622665
|
|
|
NM_003072.5(SMARCA4):c.2471A>T (p.Lys824Met)
|
rs2089622665
|
|
|
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser)
|
rs1057524313
|
|
|
NM_003072.5(SMARCA4):c.2478C>T (p.Ala826=)
|
rs2146360555
|
|
|
NM_003072.5(SMARCA4):c.2480C>G (p.Pro827Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2480C>T (p.Pro827Leu)
|
rs2089623348
|
|
|
NM_003072.5(SMARCA4):c.2485G>A (p.Val829Met)
|
rs1338927115
|
|
|
NM_003072.5(SMARCA4):c.2487G>T (p.Val829=)
|
rs1555777397
|
|
|
NM_003072.5(SMARCA4):c.2488G>A (p.Val830Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2490G>A (p.Val830=)
|
rs1555777401
|
|
|
NM_003072.5(SMARCA4):c.2492A>G (p.Lys831Arg)
|
rs2089624620
|
|
|
NM_003072.5(SMARCA4):c.2493G>A (p.Lys831=)
|
rs1600252369
|
|
|
NM_003072.5(SMARCA4):c.2496G>A (p.Val832=)
|
|
|
|
NM_003072.5(SMARCA4):c.2497T>A (p.Ser833Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.24G>C (p.Leu8=)
|
rs1555750599
|
|
|
NM_003072.5(SMARCA4):c.24G>T (p.Leu8=)
|
rs1555750599
|
|
|
NM_003072.5(SMARCA4):c.2502C>T (p.Tyr834=)
|
|
|
|
NM_003072.5(SMARCA4):c.2503_2505+6del
|
|
|
|
NM_003072.5(SMARCA4):c.2504A>G (p.Lys835Arg)
|
rs2089625509
|
|
|
NM_003072.5(SMARCA4):c.2505+11G>A
|
rs1568481776
|
|
|
NM_003072.5(SMARCA4):c.2505+12C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2505+12C>T
|
rs2146361962
|
|
|
NM_003072.5(SMARCA4):c.2505+14A>T
|
rs779882147
|
|
|
NM_003072.5(SMARCA4):c.2505+15C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2505+15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2505+19G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2505+19_2505+22del
|
|
|
|
NM_003072.5(SMARCA4):c.2505+6T>C
|
rs1255103191
|
|
|
NM_003072.5(SMARCA4):c.2505+7C>T
|
rs1060504438
|
|
|
NM_003072.5(SMARCA4):c.2505+9C>T
|
rs2089626579
|
|
|
NM_003072.5(SMARCA4):c.2506-10T>A
|
|
|
|
NM_003072.5(SMARCA4):c.2506-11T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2506-12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2506-13G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2506-15C>A
|
rs1165372720
|
|
|
NM_003072.5(SMARCA4):c.2506-18A>C
|
|
|
|
NM_003072.5(SMARCA4):c.2506-19C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2506-1G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2506-20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2506-4G>A
|
rs375670091
|
|
|
NM_003072.5(SMARCA4):c.2506-6T>G
|
|
|
|
NM_003072.5(SMARCA4):c.2506-8C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2506-9C>A
|
rs2146372359
|
|
|
NM_003072.5(SMARCA4):c.2506G>C (p.Gly836Arg)
|
rs2089678643
|
|
|
NM_003072.5(SMARCA4):c.2508A>T (p.Gly836=)
|
rs2146372821
|
|
|
NM_003072.5(SMARCA4):c.250A>G (p.Met84Val)
|
rs1568419761
|
|
|
NM_003072.5(SMARCA4):c.250A>T (p.Met84Leu)
|
rs1568419761
|
|
|
NM_003072.5(SMARCA4):c.2510C>G (p.Ser837Cys)
|
rs2146372900
|
|
|
NM_003072.5(SMARCA4):c.2513C>T (p.Pro838Leu)
|
rs2089678940
|
|
|
NM_003072.5(SMARCA4):c.2515G>A (p.Ala839Thr)
|
rs2089679090
|
|
|
NM_003072.5(SMARCA4):c.2517A>G (p.Ala839=)
|
|
|
|
NM_003072.5(SMARCA4):c.2520A>G (p.Ala840=)
|
|
|
|
NM_003072.5(SMARCA4):c.2523A>G (p.Arg841=)
|
rs2146373374
|
|
|
NM_003072.5(SMARCA4):c.2524C>T (p.Arg842Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.2527G>A (p.Ala843Thr)
|
rs2146373575
|
|
|
NM_003072.5(SMARCA4):c.2527del (p.Ala843fs)
|
rs2146373508
|
|
|
NM_003072.5(SMARCA4):c.2529C>G (p.Ala843=)
|
rs1600257746
|
|
|
NM_003072.5(SMARCA4):c.2529C>T (p.Ala843=)
|
rs1600257746
|
|
|
NM_003072.5(SMARCA4):c.2530T>G (p.Phe844Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2533G>T (p.Val845Phe)
|
rs878854210
|
|
|
NM_003072.5(SMARCA4):c.2535C>A (p.Val845=)
|
rs986151175
|
|
|
NM_003072.5(SMARCA4):c.2535C>G (p.Val845=)
|
rs986151175
|
|
|
NM_003072.5(SMARCA4):c.2536C>G (p.Pro846Ala)
|
rs2089681158
|
|
|
NM_003072.5(SMARCA4):c.2536C>T (p.Pro846Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2538C>T (p.Pro846=)
|
|
|
|
NM_003072.5(SMARCA4):c.2540A>G (p.Gln847Arg)
|
rs2089681473
|
|
|
NM_003072.5(SMARCA4):c.2541G>A (p.Gln847=)
|
|
|
|
NM_003072.5(SMARCA4):c.2544C>G (p.Leu848=)
|
|
|
|
NM_003072.5(SMARCA4):c.2544C>T (p.Leu848=)
|
|
|
|
NM_003072.5(SMARCA4):c.2545C>A (p.Arg849=)
|
rs1600257935
|
|
|
NM_003072.5(SMARCA4):c.2545C>T (p.Arg849Trp)
|
rs1600257935
|
|
|
NM_003072.5(SMARCA4):c.2546G>A (p.Arg849Gln)
|
rs1213692147
|
|
|
NM_003072.5(SMARCA4):c.2547G>T (p.Arg849=)
|
rs1555777765
|
|
|
NM_003072.5(SMARCA4):c.2553G>A (p.Gly851=)
|
|
|
|
NM_003072.5(SMARCA4):c.2553G>T (p.Gly851=)
|
rs1167535267
|
|
|
NM_003072.5(SMARCA4):c.2559C>T (p.Phe853=)
|
|
|
|
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2563G>A (p.Val855Ile)
|
rs1600258142
|
|
|
NM_003072.5(SMARCA4):c.2565C>G (p.Val855=)
|
|
|
|
NM_003072.5(SMARCA4):c.2566T>C (p.Leu856=)
|
rs2146375069
|
|
|
NM_003072.5(SMARCA4):c.2571G>A (p.Leu857=)
|
rs1408227459
|
|
|
NM_003072.5(SMARCA4):c.2573C>T (p.Thr858Met)
|
rs1480398200
|
|
|
NM_003072.5(SMARCA4):c.2574G>T (p.Thr858=)
|
rs760653330
|
|
|
NM_003072.5(SMARCA4):c.257A>G (p.Asp86Gly)
|
rs2145749357
|
|
|
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=)
|
rs776649185
|
|
|
NM_003072.5(SMARCA4):c.2583G>A (p.Glu861=)
|
rs2146375668
|
|
|
NM_003072.5(SMARCA4):c.2584T>C (p.Tyr862His)
|
|
|
|
NM_003072.5(SMARCA4):c.2585A>G (p.Tyr862Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2586C>T (p.Tyr862=)
|
|
|
|
NM_003072.5(SMARCA4):c.2587A>G (p.Ile863Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2589C>T (p.Ile863=)
|
|
|
|
NM_003072.5(SMARCA4):c.2592C>A (p.Ile864=)
|
rs1555777815
|
|
|
NM_003072.5(SMARCA4):c.2592C>T (p.Ile864=)
|
rs1555777815
|
|
|
NM_003072.5(SMARCA4):c.2597A>G (p.Asp866Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2598C>A (p.Asp866Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.2598C>T (p.Asp866=)
|
|
|
|
NM_003072.5(SMARCA4):c.259G>A (p.Asp87Asn)
|
rs1366085446
|
|
|
NM_003072.5(SMARCA4):c.259G>C (p.Asp87His)
|
rs1366085446
|
|
|
NM_003072.5(SMARCA4):c.259G>T (p.Asp87Tyr)
|
rs1366085446
|
|
|
NM_003072.5(SMARCA4):c.2600A>G (p.Lys867Arg)
|
rs1555777820
|
|
|
NM_003072.5(SMARCA4):c.2604C>T (p.His868=)
|
rs2146376348
|
|
|
NM_003072.5(SMARCA4):c.2605A>G (p.Ile869Val)
|
rs2146376383
|
|
|
NM_003072.5(SMARCA4):c.2607C>G (p.Ile869Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2607C>T (p.Ile869=)
|
rs1315219565
|
|
|
NM_003072.5(SMARCA4):c.2611G>A (p.Ala871Thr)
|
rs765073845
|
|
|
NM_003072.5(SMARCA4):c.2613C>G (p.Ala871=)
|
rs1600258656
|
|
|
NM_003072.5(SMARCA4):c.2616+10C>A
|
|
|
|
NM_003072.5(SMARCA4):c.2616+11C>A
|
rs2146377167
|
|
|
NM_003072.5(SMARCA4):c.2616+11C>T
|
rs2146377167
|
|
|
NM_003072.5(SMARCA4):c.2616+12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2616+12del
|
rs1228677739
|
|
|
NM_003072.5(SMARCA4):c.2616+14G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2616+14G>C
|
|
|
|
NM_003072.5(SMARCA4):c.2616+14G>T
|
rs886054154
|
|
|
NM_003072.5(SMARCA4):c.2616+15T>A
|
rs2146377397
|
|
|
NM_003072.5(SMARCA4):c.2616+15T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2616+16G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2616+18G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2616+18G>C
|
|
|
|
NM_003072.5(SMARCA4):c.2616+19A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2616+20A>G
|
rs2146377552
|
|
|
NM_003072.5(SMARCA4):c.2616+2_2616+5dup
|
rs1555777830
|
|
|
NM_003072.5(SMARCA4):c.2616+3A>C
|
|
|
|
NM_003072.5(SMARCA4):c.2616+4A>G
|
rs1375792226
|
|
|
NM_003072.5(SMARCA4):c.2616+6G>T
|
rs766415751
|
|
|
NM_003072.5(SMARCA4):c.2616+9T>C
|
rs2146377043
|
|
|
NM_003072.5(SMARCA4):c.2616G>A (p.Lys872=)
|
|
|
|
NM_003072.5(SMARCA4):c.2617-12T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2617-12T>G
|
rs1422659919
|
|
|
NM_003072.5(SMARCA4):c.2617-14T>C
|
rs767483064
|
|
|
NM_003072.5(SMARCA4):c.2617-15C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2617-17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2617-1G>A
|
rs1600277713
|
|
|
NM_003072.5(SMARCA4):c.2617-20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2617-3C>G
|
rs587777463
|
|
|
NM_003072.5(SMARCA4):c.2617-4G>T
|
rs201020451
|
|
|
NM_003072.5(SMARCA4):c.2617-6C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2617-7C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2617-8G>A
|
rs369658986
|
|
|
NM_003072.5(SMARCA4):c.2617A>G (p.Ile873Val)
|
rs2146414847
|
|
|
NM_003072.5(SMARCA4):c.2618T>G (p.Ile873Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.261C>T (p.Asp87=)
|
rs2145749616
|
|
|
NM_003072.5(SMARCA4):c.2620C>T (p.Arg874Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2621G>A (p.Arg874His)
|
rs1378511462
|
|
|
NM_003072.5(SMARCA4):c.2622T>A (p.Arg874=)
|
|
|
|
NM_003072.5(SMARCA4):c.2625del (p.Arg874_Trp875insTer)
|
|
|
|
NM_003072.5(SMARCA4):c.2627A>G (p.Lys876Arg)
|
rs1600277756
|
|
|
NM_003072.5(SMARCA4):c.2628G>A (p.Lys876=)
|
rs1600277776
|
|
|
NM_003072.5(SMARCA4):c.2629T>C (p.Tyr877His)
|
rs1555778688
|
|
|
NM_003072.5(SMARCA4):c.2629T>G (p.Tyr877Asp)
|
rs1555778688
|
|
|
NM_003072.5(SMARCA4):c.262C>A (p.Pro88Thr)
|
rs1555751997
|
|
|
NM_003072.5(SMARCA4):c.262C>T (p.Pro88Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2631C>T (p.Tyr877=)
|
rs1220981137
|
|
|
NM_003072.5(SMARCA4):c.2636T>C (p.Ile879Thr)
|
rs1600277882
|
|
|
NM_003072.5(SMARCA4):c.2640G>A (p.Val880=)
|
rs2146415691
|
|
|
NM_003072.5(SMARCA4):c.264G>C (p.Pro88=)
|
rs1445117849
|
|
|
NM_003072.5(SMARCA4):c.264G>T (p.Pro88=)
|
|
|
|
NM_003072.5(SMARCA4):c.2654G>A (p.Arg885His)
|
rs1064794284
|
|
|
NM_003072.5(SMARCA4):c.2655C>T (p.Arg885=)
|
rs1555778702
|
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
|
NM_003072.5(SMARCA4):c.2658G>A (p.Met886Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.265C>T (p.Arg89Cys)
|
rs1568419849
|
|
|
NM_003072.5(SMARCA4):c.2665C>T (p.His889Tyr)
|
rs2146416653
|
|
|
NM_003072.5(SMARCA4):c.2669dup (p.His890fs)
|
|
|
|
NM_003072.5(SMARCA4):c.266G>T (p.Arg89Leu)
|
rs1599941069
|
|
|
NM_003072.5(SMARCA4):c.2670C>G (p.His890Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.2673C>T (p.Cys891=)
|
|
|
|
NM_003072.5(SMARCA4):c.267C>A (p.Arg89=)
|
|
|
|
NM_003072.5(SMARCA4):c.267C>T (p.Arg89=)
|
rs551739868
|
|
|
NM_003072.5(SMARCA4):c.2681C>G (p.Thr894Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2682G>A (p.Thr894=)
|
rs1300802922
|
|
|
NM_003072.5(SMARCA4):c.2682G>C (p.Thr894=)
|
rs1300802922
|
|
|
NM_003072.5(SMARCA4):c.2682G>T (p.Thr894=)
|
|
|
|
NM_003072.5(SMARCA4):c.2685G>A (p.Gln895=)
|
|
|
|
NM_003072.5(SMARCA4):c.2688G>A (p.Val896=)
|
|
|
|
NM_003072.5(SMARCA4):c.2691C>G (p.Leu897=)
|
rs2146417640
|
|
|
NM_003072.5(SMARCA4):c.2691C>T (p.Leu897=)
|
|
|
|
NM_003072.5(SMARCA4):c.2694C>T (p.Asn898=)
|
rs1600278145
|
|
|
NM_003072.5(SMARCA4):c.2695A>T (p.Thr899Ser)
|
rs2146417780
|
|
|
NM_003072.5(SMARCA4):c.2696C>T (p.Thr899Met)
|
rs1401056652
|
|
|
NM_003072.5(SMARCA4):c.2697G>C (p.Thr899=)
|
|
|
|
NM_003072.5(SMARCA4):c.2697G>T (p.Thr899=)
|
rs373267815
|
|
|
NM_003072.5(SMARCA4):c.2699A>G (p.His900Arg)
|
rs1600278214
|
|
|
NM_003072.5(SMARCA4):c.26G>A (p.Gly9Asp)
|
rs2145720650
|
|
|
NM_003072.5(SMARCA4):c.2702A>G (p.Tyr901Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2703T>C (p.Tyr901=)
|
rs1600278283
|
|
|
NM_003072.5(SMARCA4):c.2703del (p.His900_Tyr901insTer)
|
|
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
|
NM_003072.5(SMARCA4):c.2708C>T (p.Ala903Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2709A>C (p.Ala903=)
|
rs1600278331
|
|
|
NM_003072.5(SMARCA4):c.2709A>G (p.Ala903=)
|
rs1600278331
|
|
|
NM_003072.5(SMARCA4):c.2710C>T (p.Pro904Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2712C>G (p.Pro904=)
|
rs1600278367
|
|
|
NM_003072.5(SMARCA4):c.2712C>T (p.Pro904=)
|
|
|
|
NM_003072.5(SMARCA4):c.2713C>G (p.Arg905Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys)
|
rs1555778721
|
|
|
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys)
|
rs898406635
|
|
|
NM_003072.5(SMARCA4):c.2717G>A (p.Arg906His)
|
rs2089896271
|
|
|
NM_003072.5(SMARCA4):c.2718C>T (p.Arg906=)
|
rs2146418738
|
|
|
NM_003072.5(SMARCA4):c.2725C>T (p.Leu909=)
|
|
|
|
NM_003072.5(SMARCA4):c.2729C>T (p.Thr910Met)
|
rs1238758086
|
|
|
NM_003072.5(SMARCA4):c.272A>G (p.Asn91Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2730G>C (p.Thr910=)
|
rs200258214
|
|
|
NM_003072.5(SMARCA4):c.2733C>T (p.Gly911=)
|
|
|
|
NM_003072.5(SMARCA4):c.2734A>G (p.Thr912Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2735C>T (p.Thr912Ile)
|
rs1600278606
|
|
|
NM_003072.5(SMARCA4):c.2736A>C (p.Thr912=)
|
rs1600278643
|
|
|
NM_003072.5(SMARCA4):c.2736A>G (p.Thr912=)
|
|
|
|
NM_003072.5(SMARCA4):c.2736A>T (p.Thr912=)
|
|
|
|
NM_003072.5(SMARCA4):c.273C>A (p.Asn91Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.2740C>T (p.Leu914=)
|
rs2146419620
|
|
|
NM_003072.5(SMARCA4):c.2742G>A (p.Leu914=)
|
rs1600278720
|
|
|
NM_003072.5(SMARCA4):c.2748C>T (p.Asn916=)
|
|
|
|
NM_003072.5(SMARCA4):c.274C>G (p.Gln92Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.274del (p.Gln92fs)
|
|
|
|
NM_003072.5(SMARCA4):c.2750A>G (p.Lys917Arg)
|
rs771165740
|
|
|
NM_003072.5(SMARCA4):c.2751G>A (p.Lys917=)
|
rs1600278783
|
|
|
NM_003072.5(SMARCA4):c.2754T>C (p.Leu918=)
|
|
|
|
NM_003072.5(SMARCA4):c.2754T>G (p.Leu918=)
|
rs1600278806
|
|
|
NM_003072.5(SMARCA4):c.2757C>G (p.Pro919=)
|
|
|
|
NM_003072.5(SMARCA4):c.275_276delinsCC (p.Gln92Pro)
|
rs2085928938
|
|
|
NM_003072.5(SMARCA4):c.2763C>G (p.Leu921=)
|
rs574844383
|
|
|
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=)
|
rs574844383
|
|
|
NM_003072.5(SMARCA4):c.2766G>A (p.Trp922Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.2769G>A (p.Ala923=)
|
rs771913411
|
|
|
NM_003072.5(SMARCA4):c.2769G>T (p.Ala923=)
|
rs771913411
|
|
|
NM_003072.5(SMARCA4):c.2772G>C (p.Leu924=)
|
rs1464060000
|
|
|
NM_003072.5(SMARCA4):c.2775C>G (p.Leu925=)
|
|
|
|
NM_003072.5(SMARCA4):c.2775C>T (p.Leu925=)
|
rs2089900213
|
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
|
NM_003072.5(SMARCA4):c.277A>T (p.Met93Leu)
|
rs777647740
|
|
|
NM_003072.5(SMARCA4):c.2780del (p.Phe927fs)
|
rs2146421085
|
|
|
NM_003072.5(SMARCA4):c.2781C>T (p.Phe927=)
|
rs1425800122
|
|
|
NM_003072.5(SMARCA4):c.2782C>T (p.Leu928=)
|
rs1600279092
|
|
|
NM_003072.5(SMARCA4):c.2783T>C (p.Leu928Pro)
|
rs1555778801
|
|
|
NM_003072.5(SMARCA4):c.2784G>A (p.Leu928=)
|
rs1600279135
|
|
|
NM_003072.5(SMARCA4):c.2785C>T (p.Leu929=)
|
rs2146421301
|
|
|
NM_003072.5(SMARCA4):c.2786T>G (p.Leu929Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2787G>T (p.Leu929=)
|
rs1555778804
|
|
|
NM_003072.5(SMARCA4):c.2788C>T (p.Pro930Ser)
|
rs1600279182
|
|
|
NM_003072.5(SMARCA4):c.2790C>A (p.Pro930=)
|
|
|
|
NM_003072.5(SMARCA4):c.2796C>T (p.Ile932=)
|
rs2089901386
|
|
|
NM_003072.5(SMARCA4):c.279G>A (p.Met93Ile)
|
rs2145750364
|
|
|
NM_003072.5(SMARCA4):c.27C>A (p.Gly9=)
|
rs372102929
|
|
|
NM_003072.5(SMARCA4):c.27C>G (p.Gly9=)
|
|
|
|
NM_003072.5(SMARCA4):c.2805C>T (p.Ser935=)
|
rs1600279261
|
|
|
NM_003072.5(SMARCA4):c.2810G>A (p.Ser937Asn)
|
rs981910345
|
|
|
NM_003072.5(SMARCA4):c.2811C>T (p.Ser937=)
|
rs1376802259
|
|
|
NM_003072.5(SMARCA4):c.2814C>T (p.Thr938=)
|
rs768106020
|
|
|
NM_003072.5(SMARCA4):c.2818G>A (p.Glu940Lys)
|
rs1568487189
|
|
|
NM_003072.5(SMARCA4):c.2823G>A (p.Gln941=)
|
rs1600279486
|
|
|
NM_003072.5(SMARCA4):c.2825G>A (p.Trp942Ter)
|
rs2146422618
|
|
|
NM_003072.5(SMARCA4):c.2826G>A (p.Trp942Ter)
|
rs2146422656
|
|
|
NM_003072.5(SMARCA4):c.2829T>C (p.Phe943=)
|
rs1600279521
|
|
|
NM_003072.5(SMARCA4):c.2833G>A (p.Ala945Thr)
|
rs1445478818
|
|
|
NM_003072.5(SMARCA4):c.2835A>G (p.Ala945=)
|
rs1600279591
|
|
|
NM_003072.5(SMARCA4):c.2835A>T (p.Ala945=)
|
rs1600279591
|
|
|
NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg)
|
rs1555778830
|
|
|
NM_003072.5(SMARCA4):c.2838C>T (p.Pro946=)
|
rs1325928799
|
|
|
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs)
|
rs2146423140
|
|
|
NM_003072.5(SMARCA4):c.2841T>C (p.Phe947=)
|
rs2146423325
|
|
|
NM_003072.5(SMARCA4):c.2844C>G (p.Ala948=)
|
|
|
|
NM_003072.5(SMARCA4):c.2845A>T (p.Met949Leu)
|
rs2146423428
|
|
|
NM_003072.5(SMARCA4):c.284G>A (p.Gly95Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.2850C>A (p.Thr950=)
|
rs141259126
|
|
|
NM_003072.5(SMARCA4):c.2850C>G (p.Thr950=)
|
rs141259126
|
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
|
NM_003072.5(SMARCA4):c.2852G>A (p.Gly951Glu)
|
rs2146423728
|
|
|
NM_003072.5(SMARCA4):c.2852G>C (p.Gly951Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2853G>A (p.Gly951=)
|
|
|
|
NM_003072.5(SMARCA4):c.2856A>G (p.Glu952=)
|
rs1555778866
|
|
|
NM_003072.5(SMARCA4):c.2858A>G (p.Lys953Arg)
|
rs1256465004
|
|
|
NM_003072.5(SMARCA4):c.2859+10C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2859+11C>T
|
rs2146424644
|
|
|
NM_003072.5(SMARCA4):c.2859+13A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2859+13A>T
|
|
|
|
NM_003072.5(SMARCA4):c.2859+14G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2859+14G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2859+15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2859+17G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2859+18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2859+19G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2859+20C>T
|
rs1489434785
|
|
|
NM_003072.5(SMARCA4):c.2859+3G>A
|
rs2089905213
|
|
|
NM_003072.5(SMARCA4):c.2859+4G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2859+6T>A
|
|
|
|
NM_003072.5(SMARCA4):c.2859+8T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2859+8T>G
|
rs1555778883
|
|
|
NM_003072.5(SMARCA4):c.2859+9G>A
|
rs2146424522
|
|
|
NM_003072.5(SMARCA4):c.2859+9G>T
|
rs2146424522
|
|
|
NM_003072.5(SMARCA4):c.2860-10_2860-8del
|
rs2146451474
|
|
|
NM_003072.5(SMARCA4):c.2860-13T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2860-14T>A
|
|
|
|
NM_003072.5(SMARCA4):c.2860-15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.2860-17G>A
|
rs2146451248
|
|
|
NM_003072.5(SMARCA4):c.2860-19C>T
|
rs761307221
|
|
|
NM_003072.5(SMARCA4):c.2860-1G>A
|
rs1060502102
|
|
|
NM_003072.5(SMARCA4):c.2860-20C>G
|
rs753093920
|
|
|
NM_003072.5(SMARCA4):c.2860-2A>G
|
rs2146451944
|
|
|
NM_003072.5(SMARCA4):c.2860-3C>T
|
rs757292816
|
|
|
NM_003072.5(SMARCA4):c.2860-7C>T
|
rs2146451737
|
|
|
NM_003072.5(SMARCA4):c.2860-8G>A
|
rs1555779547
|
|
|
NM_003072.5(SMARCA4):c.2860-8G>C
|
|
|
|
NM_003072.5(SMARCA4):c.2860-8G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2860-8_2860-7insT
|
rs2146451701
|
|
|
NM_003072.5(SMARCA4):c.2860-8del
|
rs2146451474
|
|
|
NM_003072.5(SMARCA4):c.2862G>A (p.Val954=)
|
|
|
|
NM_003072.5(SMARCA4):c.2866C>T (p.Leu956=)
|
rs2146452136
|
|
|
NM_003072.5(SMARCA4):c.2868G>A (p.Leu956=)
|
|
|
|
NM_003072.5(SMARCA4):c.2868G>T (p.Leu956=)
|
|
|
|
NM_003072.5(SMARCA4):c.2874G>A (p.Glu958=)
|
rs779031282
|
|
|
NM_003072.5(SMARCA4):c.2877G>A (p.Glu959=)
|
rs1555779555
|
|
|
NM_003072.5(SMARCA4):c.287T>A (p.Met96Lys)
|
rs2145750571
|
|
|
NM_003072.5(SMARCA4):c.2880A>G (p.Glu960=)
|
|
|
|
NM_003072.5(SMARCA4):c.2881A>G (p.Thr961Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2882C>T (p.Thr961Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.2884A>G (p.Ile962Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2889C>T (p.Leu963=)
|
rs758526064
|
|
|
NM_003072.5(SMARCA4):c.2891T>C (p.Ile964Thr)
|
rs2090025960
|
|
|
NM_003072.5(SMARCA4):c.2892C>T (p.Ile964=)
|
rs2146452804
|
|
|
NM_003072.5(SMARCA4):c.2897G>C (p.Arg966Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)
|
rs1085307769
|
|
|
NM_003072.5(SMARCA4):c.2904C>T (p.Leu968=)
|
rs779863039
|
|
|
NM_003072.5(SMARCA4):c.2909A>G (p.Lys970Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.290G>C (p.Gly97Ala)
|
rs1056057044
|
|
|
NM_003072.5(SMARCA4):c.290G>T (p.Gly97Val)
|
rs1056057044
|
|
|
NM_003072.5(SMARCA4):c.2911G>A (p.Val971Met)
|
rs2090026904
|
|
|
NM_003072.5(SMARCA4):c.2913G>A (p.Val971=)
|
rs2090027056
|
|
|
NM_003072.5(SMARCA4):c.2918G>A (p.Arg973Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.2918G>C (p.Arg973Pro)
|
rs2090027331
|
|
|
NM_003072.5(SMARCA4):c.2919G>A (p.Arg973=)
|
|
|
|
NM_003072.5(SMARCA4):c.2919G>T (p.Arg973=)
|
rs746801055
|
|
|
NM_003072.5(SMARCA4):c.2922C>T (p.Pro974=)
|
rs754968214
|
|
|
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs)
|
rs797045980
|
|
|
NM_003072.5(SMARCA4):c.2926T>C (p.Leu976=)
|
rs1060504466
|
|
|
NM_003072.5(SMARCA4):c.292A>G (p.Met98Val)
|
|
|
|
NM_003072.5(SMARCA4):c.292A>T (p.Met98Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2931C>G (p.Leu977=)
|
rs747616966
|
|
|
NM_003072.5(SMARCA4):c.2931C>T (p.Leu977=)
|
|
|
|
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter)
|
rs1064796254
|
|
|
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)
|
rs1180804356
|
|
|
NM_003072.5(SMARCA4):c.2935C>A (p.Arg979=)
|
rs769308802
|
|
|
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter)
|
rs769308802
|
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.2937A>C (p.Arg979=)
|
rs772765050
|
|
|
NM_003072.5(SMARCA4):c.2937A>G (p.Arg979=)
|
|
|
|
NM_003072.5(SMARCA4):c.293T>C (p.Met98Thr)
|
rs1555752060
|
|
|
NM_003072.5(SMARCA4):c.2940C>G (p.Leu980=)
|
|
|
|
NM_003072.5(SMARCA4):c.2940C>T (p.Leu980=)
|
rs2146454794
|
|
|
NM_003072.5(SMARCA4):c.2943G>A (p.Lys981=)
|
rs2146454920
|
|
|
NM_003072.5(SMARCA4):c.2946G>A (p.Lys982=)
|
rs1060504458
|
|
|
NM_003072.5(SMARCA4):c.294G>T (p.Met98Ile)
|
rs757214683
|
|
|
NM_003072.5(SMARCA4):c.2952C>G (p.Val984=)
|
|
|
|
NM_003072.5(SMARCA4):c.2955G>A (p.Glu985=)
|
|
|
|
NM_003072.5(SMARCA4):c.2956G>A (p.Ala986Thr)
|
rs1555779631
|
|
|
NM_003072.5(SMARCA4):c.2959C>T (p.Gln987Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.295C>A (p.Arg99=)
|
rs778890805
|
|
|
NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp)
|
rs778890805
|
|
|
NM_003072.5(SMARCA4):c.295_318dup (p.Arg99_Met106dup)
|
rs1599941221
|
|
|
NM_003072.5(SMARCA4):c.2962T>C (p.Leu988=)
|
|
|
|
NM_003072.5(SMARCA4):c.2964G>A (p.Leu988=)
|
|
|
|
NM_003072.5(SMARCA4):c.296G>A (p.Arg99Gln)
|
rs745406632
|
|
|
NM_003072.5(SMARCA4):c.2970A>G (p.Glu990=)
|
|
|
|
NM_003072.5(SMARCA4):c.2973+10T>G
|
rs2090031606
|
|
|
NM_003072.5(SMARCA4):c.2973+13T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2973+13dup
|
rs2146456376
|
|
|
NM_003072.5(SMARCA4):c.2973+14G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2973+16G>C
|
rs1238015569
|
|
|
NM_003072.5(SMARCA4):c.2973+16G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2973+19G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2973+19dup
|
|
|
|
NM_003072.5(SMARCA4):c.2973+20A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2973+4A>G
|
rs2090030962
|
|
|
NM_003072.5(SMARCA4):c.2973+6G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2973+6G>C
|
|
|
|
NM_003072.5(SMARCA4):c.2973+7G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2973+7del
|
rs1447526930
|
|
|
NM_003072.5(SMARCA4):c.2973+7dup
|
rs1447526930
|
|
|
NM_003072.5(SMARCA4):c.2973+8A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2973+8A>T
|
rs1310109283
|
|
|
NM_003072.5(SMARCA4):c.2974-10T>C
|
rs2146471111
|
|
|
NM_003072.5(SMARCA4):c.2974-11G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2974-14T>C
|
rs2146470885
|
|
|
NM_003072.5(SMARCA4):c.2974-16T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2974-20G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2974-2A>G
|
rs2146471651
|
|
|
NM_003072.5(SMARCA4):c.2974-5T>C
|
|
|
|
NM_003072.5(SMARCA4):c.2974-7C>A
|
|
|
|
NM_003072.5(SMARCA4):c.2974-7C>T
|
rs1426053406
|
|
|
NM_003072.5(SMARCA4):c.2974-9C>A
|
rs371801361
|
|
|
NM_003072.5(SMARCA4):c.2974-9_2974-8delinsTT
|
|
|
|
NM_003072.5(SMARCA4):c.2974G>A (p.Val992Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2979G>A (p.Glu993=)
|
rs2090097829
|
|
|
NM_003072.5(SMARCA4):c.297G>A (p.Arg99=)
|
rs771605253
|
|
|
NM_003072.5(SMARCA4):c.2983G>A (p.Val995Ile)
|
rs1600300689
|
|
|
NM_003072.5(SMARCA4):c.2985C>T (p.Val995=)
|
rs1060504464
|
|
|
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2986A>G (p.Ile996Val)
|
|
|
|
NM_003072.5(SMARCA4):c.298T>G (p.Ser100Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2990A>G (p.Lys997Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2991G>A (p.Lys997=)
|
|
|
|
NM_003072.5(SMARCA4):c.2993G>A (p.Cys998Tyr)
|
rs2146472537
|
|
|
NM_003072.5(SMARCA4):c.2995G>A (p.Asp999Asn)
|
rs1555779989
|
|
|
NM_003072.5(SMARCA4):c.2996A>C (p.Asp999Ala)
|
rs2090098830
|
|
|
NM_003072.5(SMARCA4):c.2997C>T (p.Asp999=)
|
rs1325519260
|
|
|
NM_003072.5(SMARCA4):c.2998A>G (p.Met1000Val)
|
rs1600300787
|
|
|
NM_003072.5(SMARCA4):c.299C>T (p.Ser100Leu)
|
rs2145750976
|
|
|
NM_003072.5(SMARCA4):c.3003T>C (p.Ser1001=)
|
rs2146472915
|
|
|
NM_003072.5(SMARCA4):c.3006G>A (p.Ala1002=)
|
rs1555779998
|
|
|
NM_003072.5(SMARCA4):c.3006G>T (p.Ala1002=)
|
rs1555779998
|
|
|
NM_003072.5(SMARCA4):c.3008T>G (p.Leu1003Arg)
|
rs2090099530
|
|
|
NM_003072.5(SMARCA4):c.3009G>A (p.Leu1003=)
|
rs767353166
|
|
|
NM_003072.5(SMARCA4):c.300_301del (p.Gly102fs)
|
rs780424104
|
|
|
NM_003072.5(SMARCA4):c.3011A>G (p.Gln1004Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3012G>A (p.Gln1004=)
|
|
|
|
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter)
|
rs2146473376
|
|
|
NM_003072.5(SMARCA4):c.3014G>A (p.Arg1005Gln)
|
rs1555780008
|
|
|
NM_003072.5(SMARCA4):c.3015A>T (p.Arg1005=)
|
rs2146473492
|
|
|
NM_003072.5(SMARCA4):c.3018G>T (p.Val1006=)
|
rs752405804
|
|
|
NM_003072.5(SMARCA4):c.301G>C (p.Gly101Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3021C>T (p.Leu1007=)
|
rs1555780015
|
|
|
NM_003072.5(SMARCA4):c.3023A>C (p.Tyr1008Ser)
|
rs2146473833
|
|
|
NM_003072.5(SMARCA4):c.3024C>T (p.Tyr1008=)
|
|
|
|
NM_003072.5(SMARCA4):c.3025C>T (p.Arg1009Cys)
|
rs777562578
|
|
|
NM_003072.5(SMARCA4):c.3026G>T (p.Arg1009Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3028C>A (p.His1010Asn)
|
rs2146474042
|
|
|
NM_003072.5(SMARCA4):c.3029A>G (p.His1010Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.302G>A (p.Gly101Glu)
|
rs1555752083
|
|
|
NM_003072.5(SMARCA4):c.3030C>T (p.His1010=)
|
rs1060504451
|
|
|
NM_003072.5(SMARCA4):c.3033dup (p.Gln1012fs)
|
rs2090100956
|
|
|
NM_003072.5(SMARCA4):c.3037G>A (p.Ala1013Thr)
|
rs1600301106
|
|
|
NM_003072.5(SMARCA4):c.303G>A (p.Gly101=)
|
|
|
|
NM_003072.5(SMARCA4):c.303G>T (p.Gly101=)
|
rs1170894634
|
|
|
NM_003072.5(SMARCA4):c.3049C>T (p.Leu1017=)
|
|
|
|
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys)
|
rs779627018
|
|
|
NM_003072.5(SMARCA4):c.3051G>C (p.Leu1017=)
|
rs2146474946
|
|
|
NM_003072.5(SMARCA4):c.3054G>A (p.Leu1018=)
|
rs529586298
|
|
|
NM_003072.5(SMARCA4):c.3057T>C (p.Thr1019=)
|
rs1288420421
|
|
|
NM_003072.5(SMARCA4):c.3057T>G (p.Thr1019=)
|
rs1288420421
|
|
|
NM_003072.5(SMARCA4):c.305G>A (p.Gly102Asp)
|
rs746602808
|
|
|
NM_003072.5(SMARCA4):c.305G>C (p.Gly102Ala)
|
rs746602808
|
|
|
NM_003072.5(SMARCA4):c.3063C>T (p.Gly1021=)
|
rs2146475443
|
|
|
NM_003072.5(SMARCA4):c.3065C>T (p.Ser1022Phe)
|
rs2090102305
|
|
|
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys)
|
rs1555780047
|
|
|
NM_003072.5(SMARCA4):c.306C>T (p.Gly102=)
|
|
|
|
NM_003072.5(SMARCA4):c.3075C>T (p.Asp1025=)
|
rs2146475857
|
|
|
NM_003072.5(SMARCA4):c.3081+10A>G
|
rs2146476506
|
|
|
NM_003072.5(SMARCA4):c.3081+11G>C
|
|
|
|
NM_003072.5(SMARCA4):c.3081+11_3081+20del
|
rs2146476231
|
|
|
NM_003072.5(SMARCA4):c.3081+12A>G
|
rs2146476606
|
|
|
NM_003072.5(SMARCA4):c.3081+13G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3081+14T>A
|
rs2146476758
|
|
|
NM_003072.5(SMARCA4):c.3081+15C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3081+15C>T
|
rs748447126
|
|
|
NM_003072.5(SMARCA4):c.3081+16C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3081+16C>T
|
rs1161472085
|
|
|
NM_003072.5(SMARCA4):c.3081+18C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3081+19C>T
|
rs2146476961
|
|
|
NM_003072.5(SMARCA4):c.3081+1G>T
|
rs1600301361
|
|
|
NM_003072.5(SMARCA4):c.3081+3G>A
|
rs2090103237
|
|
|
NM_003072.5(SMARCA4):c.3081+3_3081+4delinsCA
|
rs1555780058
|
|
|
NM_003072.5(SMARCA4):c.3081+4G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3081+6C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3081+7C>G
|
rs2146476265
|
|
|
NM_003072.5(SMARCA4):c.3081+7C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3081+8C>G
|
rs775978879
|
|
|
NM_003072.5(SMARCA4):c.3081+8_3081+9dup
|
|
|
|
NM_003072.5(SMARCA4):c.3081+9C>A
|
rs112327997
|
|
|
NM_003072.5(SMARCA4):c.3081+9C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3081G>A (p.Lys1027=)
|
|
|
|
NM_003072.5(SMARCA4):c.3082-10del
|
rs772995677
|
|
|
NM_003072.5(SMARCA4):c.3082-13A>G
|
rs757235327
|
|
|
NM_003072.5(SMARCA4):c.3082-14C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3082-15_3082-14del
|
|
|
|
NM_003072.5(SMARCA4):c.3082-16C>G
|
rs2146495096
|
|
|
NM_003072.5(SMARCA4):c.3082-20C>T
|
rs1440375175
|
|
|
NM_003072.5(SMARCA4):c.3082-4C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3082-6T>C
|
rs2146495619
|
|
|
NM_003072.5(SMARCA4):c.3082-7C>T
|
rs2090181470
|
|
|
NM_003072.5(SMARCA4):c.3082-9G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3084C>G (p.Gly1028=)
|
|
|
|
NM_003072.5(SMARCA4):c.3084C>T (p.Gly1028=)
|
|
|
|
NM_003072.5(SMARCA4):c.3087A>G (p.Lys1029=)
|
rs1600311114
|
|
|
NM_003072.5(SMARCA4):c.308A>T (p.His103Leu)
|
rs770147215
|
|
|
NM_003072.5(SMARCA4):c.3091G>A (p.Gly1031Ser)
|
rs749947536
|
|
|
NM_003072.5(SMARCA4):c.3095C>A (p.Thr1032Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3095C>G (p.Thr1032Ser)
|
rs2146496372
|
|
|
NM_003072.5(SMARCA4):c.309T>C (p.His103=)
|
|
|
|
NM_003072.5(SMARCA4):c.3101C>A (p.Thr1034Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile)
|
rs1568493644
|
|
|
NM_003072.5(SMARCA4):c.3101_3102delinsTT (p.Thr1034Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.3102C>T (p.Thr1034=)
|
rs758181694
|
|
|
NM_003072.5(SMARCA4):c.3103C>T (p.Leu1035=)
|
rs779514603
|
|
|
NM_003072.5(SMARCA4):c.310G>A (p.Ala104Thr)
|
rs1599941622
|
|
|
NM_003072.5(SMARCA4):c.310G>T (p.Ala104Ser)
|
rs1599941622
|
|
|
NM_003072.5(SMARCA4):c.3114C>T (p.Thr1038=)
|
|
|
|
NM_003072.5(SMARCA4):c.3117C>T (p.Ile1039=)
|
rs2146497140
|
|
|
NM_003072.5(SMARCA4):c.3118A>G (p.Met1040Val)
|
|
|
|
NM_003072.5(SMARCA4):c.311C>T (p.Ala104Val)
|
rs1555752113
|
|
|
NM_003072.5(SMARCA4):c.3124C>T (p.Leu1042=)
|
|
|
|
NM_003072.5(SMARCA4):c.3127C>A (p.Arg1043=)
|
rs770014321
|
|
|
NM_003072.5(SMARCA4):c.3129G>A (p.Arg1043=)
|
rs2146497594
|
|
|
NM_003072.5(SMARCA4):c.3129del (p.Lys1044fs)
|
rs2146497558
|
|
|
NM_003072.5(SMARCA4):c.312_313delinsCT (p.Gly105Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.3138C>T (p.Cys1046=)
|
|
|
|
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg)
|
rs1060502074
|
|
|
NM_003072.5(SMARCA4):c.3142C>T (p.His1048Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.3145C>T (p.Pro1049Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.3147C>T (p.Pro1049=)
|
rs2090184445
|
|
|
NM_003072.5(SMARCA4):c.3149A>T (p.Tyr1050Phe)
|
rs2090184575
|
|
|
NM_003072.5(SMARCA4):c.3150C>A (p.Tyr1050Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.3151A>G (p.Met1051Val)
|
rs2146498393
|
|
|
NM_003072.5(SMARCA4):c.3151A>T (p.Met1051Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3156C>T (p.Phe1052=)
|
|
|
|
NM_003072.5(SMARCA4):c.3159G>A (p.Gln1053=)
|
|
|
|
NM_003072.5(SMARCA4):c.3159G>T (p.Gln1053His)
|
|
|
|
NM_003072.5(SMARCA4):c.315G>T (p.Gly105=)
|
|
|
|
NM_003072.5(SMARCA4):c.3161A>C (p.His1054Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3162C>T (p.His1054=)
|
rs771400025
|
|
|
NM_003072.5(SMARCA4):c.3165C>A (p.Ile1055=)
|
rs774483875
|
|
|
NM_003072.5(SMARCA4):c.3165C>G (p.Ile1055Met)
|
|
|
|
NM_003072.5(SMARCA4):c.3168+10C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3168+11C>G
|
rs760537610
|
|
|
NM_003072.5(SMARCA4):c.3168+11C>T
|
rs760537610
|
|
|
NM_003072.5(SMARCA4):c.3168+11_3168+20del
|
rs2146499445
|
|
|
NM_003072.5(SMARCA4):c.3168+14G>A
|
rs370110793
|
|
|
NM_003072.5(SMARCA4):c.3168+14G>C
|
|
|
|
NM_003072.5(SMARCA4):c.3168+15G>T
|
rs757779375
|
|
|
NM_003072.5(SMARCA4):c.3168+15del
|
|
|
|
NM_003072.5(SMARCA4):c.3168+20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3168+2_3168+3dup
|
|
|
|
NM_003072.5(SMARCA4):c.3168+3G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3168+6C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3168+7C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3168+8C>A
|
rs200658539
|
|
|
NM_003072.5(SMARCA4):c.3168+9G>T
|
rs369201773
|
|
|
NM_003072.5(SMARCA4):c.3169-10T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3169-11T>C
|
rs2146514912
|
|
|
NM_003072.5(SMARCA4):c.3169-12C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3169-13C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3169-15C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3169-17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3169-18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3169-19CT[2]
|
|
|
|
NM_003072.5(SMARCA4):c.3169-20C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3169-4G>T
|
rs761642500
|
|
|
NM_003072.5(SMARCA4):c.3169-5T>C
|
rs1060504442
|
|
|
NM_003072.5(SMARCA4):c.3169-7C>G
|
rs1162053241
|
|
|
NM_003072.5(SMARCA4):c.3169-8C>T
|
rs1555781041
|
|
|
NM_003072.5(SMARCA4):c.3169-9G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3169G>C (p.Glu1057Gln)
|
rs1555781050
|
|
|
NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter)
|
rs1555781050
|
|
|
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)
|
rs773526113
|
|
|
NM_003072.5(SMARCA4):c.316A>T (p.Met106Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3172T>G (p.Ser1058Ala)
|
rs1568495291
|
|
|
NM_003072.5(SMARCA4):c.3174C>G (p.Ser1058=)
|
rs1060504434
|
|
|
NM_003072.5(SMARCA4):c.317T>G (p.Met106Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3180C>A (p.Ser1060=)
|
rs765269922
|
|
|
NM_003072.5(SMARCA4):c.3181G>A (p.Glu1061Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.3183G>A (p.Glu1061=)
|
|
|
|
NM_003072.5(SMARCA4):c.3186C>T (p.His1062=)
|
|
|
|
NM_003072.5(SMARCA4):c.318G>A (p.Met106Ile)
|
rs1555752136
|
|
|
NM_003072.5(SMARCA4):c.3190G>A (p.Gly1064Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3195C>T (p.Phe1065=)
|
rs1265970795
|
|
|
NM_003072.5(SMARCA4):c.3196A>G (p.Thr1066Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.3197C>A (p.Thr1066Asn)
|
rs1555781082
|
|
|
NM_003072.5(SMARCA4):c.3197C>T (p.Thr1066Ile)
|
rs1555781082
|
|
|
NM_003072.5(SMARCA4):c.3198T>A (p.Thr1066=)
|
rs1600320777
|
|
|
NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala)
|
rs1060502067
|
|
|
NM_003072.5(SMARCA4):c.3200G>A (p.Gly1067Asp)
|
rs2090254973
|
|
|
NM_003072.5(SMARCA4):c.3204C>T (p.Gly1068=)
|
|
|
|
NM_003072.5(SMARCA4):c.3205A>G (p.Ile1069Val)
|
rs1555781098
|
|
|
NM_003072.5(SMARCA4):c.3207T>C (p.Ile1069=)
|
rs1772736536
|
|
|
NM_003072.5(SMARCA4):c.320G>C (p.Gly107Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.320G>T (p.Gly107Val)
|
|
|
|
NM_003072.5(SMARCA4):c.3210C>T (p.Val1070=)
|
rs955571639
|
|
|
NM_003072.5(SMARCA4):c.3210_3214del (p.Gln1071fs)
|
|
|
|
NM_003072.5(SMARCA4):c.3211dup (p.Gln1071fs)
|
rs2146516794
|
|
|
NM_003072.5(SMARCA4):c.3212A>G (p.Gln1071Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3213A>G (p.Gln1071=)
|
|
|
|
NM_003072.5(SMARCA4):c.3215+11T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3215+11_3215+12del
|
rs1324416216
|
|
|
NM_003072.5(SMARCA4):c.3215+12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3215+13C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3215+14C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3215+14C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3215+15A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3215+15_3215+17del
|
rs2146517633
|
|
|
NM_003072.5(SMARCA4):c.3215+16A>T
|
rs370383249
|
|
|
NM_003072.5(SMARCA4):c.3215+17C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3215+17C>T
|
rs762320861
|
|
|
NM_003072.5(SMARCA4):c.3215+18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3215+19G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3215+20G>C
|
|
|
|
NM_003072.5(SMARCA4):c.3215+20G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3215+5G>A
|
rs2090256316
|
|
|
NM_003072.5(SMARCA4):c.3215+7A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3216-10C>T
|
rs1013323481
|
|
|
NM_003072.5(SMARCA4):c.3216-11C>A
|
rs566308079
|
|
|
NM_003072.5(SMARCA4):c.3216-11C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3216-12T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3216-13C>T
|
rs1415273981
|
|
|
NM_003072.5(SMARCA4):c.3216-16C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3216-17C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3216-18G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3216-18G>C
|
rs773119583
|
|
|
NM_003072.5(SMARCA4):c.3216-1G>C
|
|
|
|
NM_003072.5(SMARCA4):c.3216-1G>T
|
rs1568498107
|
|
|
NM_003072.5(SMARCA4):c.3216-20C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3216-346C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3216-5T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3216-6C>T
|
rs2146540759
|
|
|
NM_003072.5(SMARCA4):c.3216-7A>C
|
rs2090370718
|
|
|
NM_003072.5(SMARCA4):c.3216-7A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3219G>A (p.Leu1073=)
|
rs1600335169
|
|
|
NM_003072.5(SMARCA4):c.321G>A (p.Gly107=)
|
rs1599941824
|
|
|
NM_003072.5(SMARCA4):c.321G>T (p.Gly107=)
|
rs1599941824
|
|
|
NM_003072.5(SMARCA4):c.3222C>T (p.Asp1074=)
|
rs2090371966
|
|
|
NM_003072.5(SMARCA4):c.3228C>G (p.Tyr1076Ter)
|
rs2146541525
|
|
|
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter)
|
rs2146541571
|
|
|
NM_003072.5(SMARCA4):c.322C>G (p.Pro108Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.3232G>C (p.Ala1078Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3233C>G (p.Ala1078Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3234C>T (p.Ala1078=)
|
rs1555781748
|
|
|
NM_003072.5(SMARCA4):c.3237G>A (p.Ser1079=)
|
rs752310534
|
|
|
NM_003072.5(SMARCA4):c.3237G>C (p.Ser1079=)
|
rs752310534
|
|
|
NM_003072.5(SMARCA4):c.3237G>T (p.Ser1079=)
|
rs752310534
|
|
|
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp)
|
rs587777464
|
|
|
NM_003072.5(SMARCA4):c.323C>T (p.Pro108Leu)
|
rs1198747280
|
|
|
NM_003072.5(SMARCA4):c.3240T>C (p.Gly1080=)
|
rs1448966844
|
|
|
NM_003072.5(SMARCA4):c.3249G>A (p.Glu1083=)
|
|
|
|
NM_003072.5(SMARCA4):c.3249G>C (p.Glu1083Asp)
|
rs1600335341
|
|
|
NM_003072.5(SMARCA4):c.3256G>A (p.Asp1086Asn)
|
rs1600335439
|
|
|
NM_003072.5(SMARCA4):c.3258T>C (p.Asp1086=)
|
rs1555781763
|
|
|
NM_003072.5(SMARCA4):c.325C>T (p.Pro109Ser)
|
rs2085934580
|
|
|
NM_003072.5(SMARCA4):c.3260G>C (p.Arg1087Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.3261A>G (p.Arg1087=)
|
rs1600335512
|
|
|
NM_003072.5(SMARCA4):c.3262A>G (p.Ile1088Val)
|
rs2090374012
|
|
|
NM_003072.5(SMARCA4):c.3265C>T (p.Leu1089Phe)
|
rs1600335596
|
|
|
NM_003072.5(SMARCA4):c.3267del (p.Lys1091fs)
|
|
|
|
NM_003072.5(SMARCA4):c.3268C>T (p.Pro1090Ser)
|
rs2146542763
|
|
|
NM_003072.5(SMARCA4):c.3270C>T (p.Pro1090=)
|
rs1380731136
|
|
|
NM_003072.5(SMARCA4):c.3271A>G (p.Lys1091Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.3272A>G (p.Lys1091Arg)
|
rs1555781772
|
|
|
NM_003072.5(SMARCA4):c.3276C>T (p.Leu1092=)
|
rs536795031
|
|
|
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter)
|
rs1600335765
|
|
|
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln)
|
rs1568498301
|
|
|
NM_003072.5(SMARCA4):c.3278G>T (p.Arg1093Leu)
|
rs1568498301
|
|
|
NM_003072.5(SMARCA4):c.3279A>C (p.Arg1093=)
|
|
|
|
NM_003072.5(SMARCA4):c.3280G>A (p.Ala1094Thr)
|
rs1600335831
|
|
|
NM_003072.5(SMARCA4):c.3282A>C (p.Ala1094=)
|
rs1600335860
|
|
|
NM_003072.5(SMARCA4):c.3285C>G (p.Thr1095=)
|
rs1314371535
|
|
|
NM_003072.5(SMARCA4):c.3285C>T (p.Thr1095=)
|
rs1314371535
|
|
|
NM_003072.5(SMARCA4):c.3287A>G (p.Asn1096Ser)
|
rs1354262139
|
|
|
NM_003072.5(SMARCA4):c.3288C>A (p.Asn1096Lys)
|
rs760295801
|
|
|
NM_003072.5(SMARCA4):c.3288C>T (p.Asn1096=)
|
rs760295801
|
|
|
NM_003072.5(SMARCA4):c.328C>T (p.Pro110Ser)
|
rs2145752088
|
|
|
NM_003072.5(SMARCA4):c.3290A>G (p.His1097Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3297G>A (p.Val1099=)
|
rs927262491
|
|
|
NM_003072.5(SMARCA4):c.32C>G (p.Thr11Ser)
|
rs1568416665
|
|
|
NM_003072.5(SMARCA4):c.32C>T (p.Thr11Ile)
|
rs1568416665
|
|
|
NM_003072.5(SMARCA4):c.3300G>A (p.Leu1100=)
|
rs1600336012
|
|
|
NM_003072.5(SMARCA4):c.3301C>G (p.Leu1101Val)
|
rs1600336031
|
|
|
NM_003072.5(SMARCA4):c.3301C>T (p.Leu1101=)
|
rs1600336031
|
|
|
NM_003072.5(SMARCA4):c.3303G>A (p.Leu1101=)
|
rs878854213
|
|
|
NM_003072.5(SMARCA4):c.3303G>C (p.Leu1101=)
|
rs878854213
|
|
|
NM_003072.5(SMARCA4):c.3309C>T (p.Cys1103=)
|
rs1600336104
|
|
|
NM_003072.5(SMARCA4):c.330C>G (p.Pro110=)
|
rs374224953
|
|
|
NM_003072.5(SMARCA4):c.3312A>G (p.Gln1104=)
|
rs1600336124
|
|
|
NM_003072.5(SMARCA4):c.3315G>T (p.Met1105Ile)
|
rs2090376788
|
|
|
NM_003072.5(SMARCA4):c.3316A>G (p.Thr1106Ala)
|
rs2146544445
|
|
|
NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly)
|
rs1599941986
|
|
|
NM_003072.5(SMARCA4):c.3320C>T (p.Ser1107Phe)
|
rs2146544542
|
|
|
NM_003072.5(SMARCA4):c.3324C>T (p.Leu1108=)
|
rs750792793
|
|
|
NM_003072.5(SMARCA4):c.3331A>G (p.Ile1111Val)
|
rs2090377448
|
|
|
NM_003072.5(SMARCA4):c.3333C>G (p.Ile1111Met)
|
|
|
|
NM_003072.5(SMARCA4):c.3333C>T (p.Ile1111=)
|
rs1424546209
|
|
|
NM_003072.5(SMARCA4):c.3339A>G (p.Glu1113=)
|
|
|
|
NM_003072.5(SMARCA4):c.333C>T (p.Ser111=)
|
rs1599942009
|
|
|
NM_003072.5(SMARCA4):c.3345C>T (p.Tyr1115=)
|
|
|
|
NM_003072.5(SMARCA4):c.3348T>C (p.Phe1116=)
|
rs1182379000
|
|
|
NM_003072.5(SMARCA4):c.3348T>G (p.Phe1116Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3349G>T (p.Ala1117Ser)
|
rs548906832
|
|
|
NM_003072.5(SMARCA4):c.334C>G (p.Pro112Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.3350C>G (p.Ala1117Gly)
|
rs755069412
|
|
|
NM_003072.5(SMARCA4):c.3351G>A (p.Ala1117=)
|
rs781587481
|
|
|
NM_003072.5(SMARCA4):c.3351G>C (p.Ala1117=)
|
|
|
|
NM_003072.5(SMARCA4):c.3351G>T (p.Ala1117=)
|
rs781587481
|
|
|
NM_003072.5(SMARCA4):c.3353A>G (p.Tyr1118Cys)
|
rs2146545716
|
|
|
NM_003072.5(SMARCA4):c.3355C>G (p.Arg1119Gly)
|
rs2090378511
|
|
|
NM_003072.5(SMARCA4):c.3355C>T (p.Arg1119Cys)
|
rs2090378511
|
|
|
NM_003072.5(SMARCA4):c.3358G>T (p.Gly1120Cys)
|
rs373590049
|
|
|
NM_003072.5(SMARCA4):c.3361T>C (p.Phe1121Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3362T>A (p.Phe1121Tyr)
|
rs2146546041
|
|
|
NM_003072.5(SMARCA4):c.3365A>G (p.Lys1122Arg)
|
rs2146546121
|
|
|
NM_003072.5(SMARCA4):c.3368A>G (p.Tyr1123Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.336dup (p.Met113fs)
|
rs2145752321
|
|
|
NM_003072.5(SMARCA4):c.3372C>T (p.Leu1124=)
|
rs2090379549
|
|
|
NM_003072.5(SMARCA4):c.3373A>C (p.Arg1125=)
|
rs2146546382
|
|
|
NM_003072.5(SMARCA4):c.337A>G (p.Met113Val)
|
rs774919609
|
|
|
NM_003072.5(SMARCA4):c.3381T>C (p.Asp1127=)
|
|
|
|
NM_003072.5(SMARCA4):c.3382+10A>G
|
rs2146547037
|
|
|
NM_003072.5(SMARCA4):c.3382+11G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3382+12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3382+13C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3382+14A>C
|
rs1316952160
|
|
|
NM_003072.5(SMARCA4):c.3382+14A>G
|
rs1316952160
|
|
|
NM_003072.5(SMARCA4):c.3382+15G>C
|
|
|
|
NM_003072.5(SMARCA4):c.3382+15G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3382+17G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3382+19G>A
|
rs1349770081
|
|
|
NM_003072.5(SMARCA4):c.3382+20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3382+3_3382+6del
|
rs2090379999
|
|
|
NM_003072.5(SMARCA4):c.3382+7A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3382+9G>A
|
rs1031818120
|
|
|
NM_003072.5(SMARCA4):c.3382_3382+3dup
|
|
|
|
NM_003072.5(SMARCA4):c.3383-10T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3383-11G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3383-13C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3383-13C>T
|
rs2074868828
|
|
|
NM_003072.5(SMARCA4):c.3383-15_3383-13del
|
rs2146596414
|
|
|
NM_003072.5(SMARCA4):c.3383-16C>T
|
rs2146596463
|
|
|
NM_003072.5(SMARCA4):c.3383-18C>G
|
rs778742929
|
|
|
NM_003072.5(SMARCA4):c.3383-20T>C
|
rs2146596298
|
|
|
NM_003072.5(SMARCA4):c.3383-3C>G
|
rs371558035
|
|
|
NM_003072.5(SMARCA4):c.3383-5G>T
|
rs762528243
|
|
|
NM_003072.5(SMARCA4):c.3383-6del
|
rs2146596858
|
|
|
NM_003072.5(SMARCA4):c.3383G>A (p.Gly1128Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.3387C>G (p.Thr1129=)
|
rs1555783132
|
|
|
NM_003072.5(SMARCA4):c.3387C>T (p.Thr1129=)
|
rs1555783132
|
|
|
NM_003072.5(SMARCA4):c.3389C>T (p.Thr1130Met)
|
|
|
|
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr)
|
rs1175163671
|
|
|
NM_003072.5(SMARCA4):c.338T>G (p.Met113Arg)
|
rs1175163671
|
|
|
NM_003072.5(SMARCA4):c.3390G>T (p.Thr1130=)
|
|
|
|
NM_003072.5(SMARCA4):c.3393G>A (p.Lys1131=)
|
|
|
|
NM_003072.5(SMARCA4):c.3394G>T (p.Ala1132Ser)
|
rs2146597778
|
|
|
NM_003072.5(SMARCA4):c.3395C>T (p.Ala1132Val)
|
rs1555783136
|
|
|
NM_003072.5(SMARCA4):c.3399G>A (p.Glu1133=)
|
|
|
|
NM_003072.5(SMARCA4):c.33T>A (p.Thr11=)
|
|
|
|
NM_003072.5(SMARCA4):c.33T>C (p.Thr11=)
|
rs1555750624
|
|
|
NM_003072.5(SMARCA4):c.33_51del (p.Pro12fs)
|
|
|
|
NM_003072.5(SMARCA4):c.3402C>A (p.Asp1134Glu)
|
rs2074871664
|
|
|
NM_003072.5(SMARCA4):c.3402C>T (p.Asp1134=)
|
|
|
|
NM_003072.5(SMARCA4):c.3405G>A (p.Arg1135=)
|
|
|
|
NM_003072.5(SMARCA4):c.3407G>A (p.Gly1136Asp)
|
rs2074871956
|
|
|
NM_003072.5(SMARCA4):c.340G>T (p.Asp114Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.3414G>A (p.Leu1138=)
|
rs2146598589
|
|
|
NM_003072.5(SMARCA4):c.3417G>A (p.Leu1139=)
|
rs1600364543
|
|
|
NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr)
|
rs2074872521
|
|
|
NM_003072.5(SMARCA4):c.3426C>T (p.Phe1142=)
|
rs2146598958
|
|
|
NM_003072.5(SMARCA4):c.3427_3429del (p.Asn1143del)
|
rs2074872807
|
|
|
NM_003072.5(SMARCA4):c.342C>T (p.Asp114=)
|
rs1599942113
|
|
|
NM_003072.5(SMARCA4):c.3430G>A (p.Glu1144Lys)
|
rs1600364662
|
|
|
NM_003072.5(SMARCA4):c.3432G>A (p.Glu1144=)
|
rs1405829629
|
|
|
NM_003072.5(SMARCA4):c.3433C>T (p.Pro1145Ser)
|
rs2146599286
|
|
|
NM_003072.5(SMARCA4):c.3435C>A (p.Pro1145=)
|
rs138764713
|
|
|
NM_003072.5(SMARCA4):c.3436G>T (p.Gly1146Cys)
|
rs200007170
|
|
|
NM_003072.5(SMARCA4):c.3437G>T (p.Gly1146Val)
|
rs566531015
|
|
|
NM_003072.5(SMARCA4):c.3438C>T (p.Gly1146=)
|
rs1327774799
|
|
|
NM_003072.5(SMARCA4):c.343C>T (p.Gln115Ter)
|
rs2145752709
|
|
|
NM_003072.5(SMARCA4):c.3440_3441del (p.Gly1146_Ser1147insTer)
|
|
|
|
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln)
|
rs1555783190
|
|
|
NM_003072.5(SMARCA4):c.3445T>C (p.Tyr1149His)
|
rs2074875124
|
|
|
NM_003072.5(SMARCA4):c.3446A>G (p.Tyr1149Cys)
|
rs2074875260
|
|
|
NM_003072.5(SMARCA4):c.3451A>G (p.Ile1151Val)
|
rs544231909
|
|
|
NM_003072.5(SMARCA4):c.3453C>T (p.Ile1151=)
|
rs778831503
|
|
|
NM_003072.5(SMARCA4):c.3457C>T (p.Leu1153=)
|
rs1555783211
|
|
|
NM_003072.5(SMARCA4):c.3459G>C (p.Leu1153=)
|
rs1600365100
|
|
|
NM_003072.5(SMARCA4):c.345G>C (p.Gln115His)
|
rs2085937175
|
|
|
NM_003072.5(SMARCA4):c.3462C>G (p.Leu1154=)
|
rs1060504465
|
|
|
NM_003072.5(SMARCA4):c.3464G>A (p.Ser1155Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3469C>A (p.Arg1157=)
|
|
|
|
NM_003072.5(SMARCA4):c.3469C>T (p.Arg1157Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.346C>T (p.His116Tyr)
|
rs1599942158
|
|
|
NM_003072.5(SMARCA4):c.3471G>T (p.Arg1157=)
|
|
|
|
NM_003072.5(SMARCA4):c.3474T>C (p.Ala1158=)
|
rs2146600781
|
|
|
NM_003072.5(SMARCA4):c.3477G>A (p.Gly1159=)
|
|
|
|
NM_003072.5(SMARCA4):c.3477G>T (p.Gly1159=)
|
|
|
|
NM_003072.5(SMARCA4):c.3479G>A (p.Gly1160Glu)
|
rs2074877069
|
|
|
NM_003072.5(SMARCA4):c.347A>C (p.His116Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.347A>G (p.His116Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3480G>A (p.Gly1160=)
|
rs1490308523
|
|
|
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs)
|
rs797045982
|
|
|
NM_003072.5(SMARCA4):c.3483C>G (p.Leu1161=)
|
rs375444418
|
|
|
NM_003072.5(SMARCA4):c.3487C>T (p.Leu1163=)
|
rs1060504462
|
|
|
NM_003072.5(SMARCA4):c.348C>T (p.His116=)
|
rs1400390629
|
|
|
NM_003072.5(SMARCA4):c.3495C>G (p.Leu1165=)
|
rs1555783247
|
|
|
NM_003072.5(SMARCA4):c.3495C>T (p.Leu1165=)
|
rs1555783247
|
|
|
NM_003072.5(SMARCA4):c.3500C>G (p.Ser1167Trp)
|
rs1192589668
|
|
|
NM_003072.5(SMARCA4):c.3507C>T (p.Asp1169=)
|
|
|
|
NM_003072.5(SMARCA4):c.350C>G (p.Ser117Cys)
|
rs759594383
|
|
|
NM_003072.5(SMARCA4):c.3512_3513del (p.Val1171fs)
|
|
|
|
NM_003072.5(SMARCA4):c.3513G>A (p.Val1171=)
|
rs775981674
|
|
|
NM_003072.5(SMARCA4):c.3514A>G (p.Ile1172Val)
|
|
|
|
NM_003072.5(SMARCA4):c.3516C>A (p.Ile1172=)
|
rs769327965
|
|
|
NM_003072.5(SMARCA4):c.3516C>T (p.Ile1172=)
|
rs769327965
|
|
|
NM_003072.5(SMARCA4):c.351C>T (p.Ser117=)
|
rs966478275
|
|
|
NM_003072.5(SMARCA4):c.3525C>T (p.Asp1175=)
|
rs1555783287
|
|
|
NM_003072.5(SMARCA4):c.3531C>T (p.Asp1177=)
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|
|
|
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter)
|
rs587777460
|
|
|
NM_003072.5(SMARCA4):c.3545A>T (p.Gln1182Leu)
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|
|
|
NM_003072.5(SMARCA4):c.3546+10G>A
|
rs1359265574
|
|
|
NM_003072.5(SMARCA4):c.3546+11G>T
|
rs2146604166
|
|
|
NM_003072.5(SMARCA4):c.3546+12C>T
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|
|
|
NM_003072.5(SMARCA4):c.3546+16G>A
|
rs587777972
|
|
|
NM_003072.5(SMARCA4):c.3546+17C>T
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|
|
|
NM_003072.5(SMARCA4):c.3546+18C>T
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|
NM_003072.5(SMARCA4):c.3546+19C>A
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|
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|
NM_003072.5(SMARCA4):c.3546+19C>T
|
rs757553186
|
|
|
NM_003072.5(SMARCA4):c.3546+1G>A
|
rs2146603666
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|
NM_003072.5(SMARCA4):c.3546+20C>G
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|
|
|
NM_003072.5(SMARCA4):c.3546+2T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3546+3A>G
|
rs2074879994
|
|
|
NM_003072.5(SMARCA4):c.3546+5A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3546+7G>A
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|
NM_003072.5(SMARCA4):c.3546+7G>C
|
rs2074880634
|
|
|
NM_003072.5(SMARCA4):c.3546+9G>C
|
rs544551192
|
|
|
NM_003072.5(SMARCA4):c.3546+9G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3547-10C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3547-10C>T
|
rs1241445522
|
|
|
NM_003072.5(SMARCA4):c.3547-12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3547-13C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3547-13C>T
|
rs1206705033
|
|
|
NM_003072.5(SMARCA4):c.3547-15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3547-16G>T
|
rs1184882297
|
|
|
NM_003072.5(SMARCA4):c.3547-17G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3547-18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3547-1G>A
|
rs2146647668
|
|
|
NM_003072.5(SMARCA4):c.3547-24_3547-16del
|
rs1385339020
|
|
|
NM_003072.5(SMARCA4):c.3547-3C>T
|
rs927543047
|
|
|
NM_003072.5(SMARCA4):c.3547-3del
|
rs2075055829
|
|
|
NM_003072.5(SMARCA4):c.3547-3dup
|
rs2075055829
|
|
|
NM_003072.5(SMARCA4):c.3547-4C>T
|
rs908652572
|
|
|
NM_003072.5(SMARCA4):c.3547-5C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3547-6C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3547-7C>G
|
rs750594452
|
|
|
NM_003072.5(SMARCA4):c.3547-7C>T
|
rs750594452
|
|
|
NM_003072.5(SMARCA4):c.3547-9T>C
|
rs1060504443
|
|
|
NM_003072.5(SMARCA4):c.3549C>T (p.Asp1183=)
|
rs2146647780
|
|
|
NM_003072.5(SMARCA4):c.354A>C (p.Gln118His)
|
rs1329881837
|
|
|
NM_003072.5(SMARCA4):c.355+11G>T
|
|
|
|
NM_003072.5(SMARCA4):c.355+13G>T
|
rs764006928
|
|
|
NM_003072.5(SMARCA4):c.355+16C>T
|
|
|
|
NM_003072.5(SMARCA4):c.355+17C>T
|
rs2145753844
|
|
|
NM_003072.5(SMARCA4):c.355+4C>T
|
rs1276835884
|
|
|
NM_003072.5(SMARCA4):c.355+5A>T
|
rs999267729
|
|
|
NM_003072.5(SMARCA4):c.355+6G>A
|
rs2085939729
|
|
|
NM_003072.5(SMARCA4):c.355+8A>C
|
rs2145753460
|
|
|
NM_003072.5(SMARCA4):c.3554A>C (p.Gln1185Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3554A>G (p.Gln1185Arg)
|
rs2075056831
|
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
|
NM_003072.5(SMARCA4):c.3558G>C (p.Ala1186=)
|
|
|
|
NM_003072.5(SMARCA4):c.3558G>T (p.Ala1186=)
|
rs140322802
|
|
|
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter)
|
rs1600389034
|
|
|
NM_003072.5(SMARCA4):c.355G>C (p.Gly119Arg)
|
rs1555752203
|
|
|
NM_003072.5(SMARCA4):c.356-11T>C
|
|
|
|
NM_003072.5(SMARCA4):c.356-13C>G
|
|
|
|
NM_003072.5(SMARCA4):c.356-16dup
|
|
|
|
NM_003072.5(SMARCA4):c.356-17C>G
|
|
|
|
NM_003072.5(SMARCA4):c.356-17C>T
|
rs2145769920
|
|
|
NM_003072.5(SMARCA4):c.356-18G>T
|
|
|
|
NM_003072.5(SMARCA4):c.356-19G>A
|
rs2145769764
|
|
|
NM_003072.5(SMARCA4):c.356-19G>C
|
|
|
|
NM_003072.5(SMARCA4):c.356-2A>G
|
|
|
|
NM_003072.5(SMARCA4):c.356-3C>T
|
rs1599948631
|
|
|
NM_003072.5(SMARCA4):c.356-4G>T
|
rs765828645
|
|
|
NM_003072.5(SMARCA4):c.356-7T>C
|
|
|
|
NM_003072.5(SMARCA4):c.356-8C>G
|
rs1263406844
|
|
|
NM_003072.5(SMARCA4):c.356-8C>T
|
rs1263406844
|
|
|
NM_003072.5(SMARCA4):c.356-9T>C
|
rs1555752848
|
|
|
NM_003072.5(SMARCA4):c.3560A>C (p.Gln1187Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)
|
rs267607070
|
|
|
NM_003072.5(SMARCA4):c.356G>A (p.Gly119Asp)
|
rs1599948657
|
|
|
NM_003072.5(SMARCA4):c.3570C>G (p.Ala1190=)
|
|
|
|
NM_003072.5(SMARCA4):c.3570C>T (p.Ala1190=)
|
rs1060504455
|
|
|
NM_003072.5(SMARCA4):c.3573C>T (p.His1191=)
|
rs2075057826
|
|
|
NM_003072.5(SMARCA4):c.3575G>A (p.Arg1192His)
|
|
|
|
NM_003072.5(SMARCA4):c.3577A>G (p.Ile1193Val)
|
rs1555784468
|
|
|
NM_003072.5(SMARCA4):c.357T>C (p.Gly119=)
|
rs2145770843
|
|
|
NM_003072.5(SMARCA4):c.3582G>C (p.Gly1194=)
|
rs1353303245
|
|
|
NM_003072.5(SMARCA4):c.3588G>A (p.Gln1196=)
|
rs1461878928
|
|
|
NM_003072.5(SMARCA4):c.3592G>A (p.Glu1198Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.3594G>A (p.Glu1198=)
|
rs913401320
|
|
|
NM_003072.5(SMARCA4):c.3597G>A (p.Val1199=)
|
|
|
|
NM_003072.5(SMARCA4):c.3597G>C (p.Val1199=)
|
|
|
|
NM_003072.5(SMARCA4):c.3599G>A (p.Arg1200His)
|
rs749001381
|
|
|
NM_003072.5(SMARCA4):c.35C>A (p.Pro12His)
|
|
|
|
NM_003072.5(SMARCA4):c.3600T>C (p.Arg1200=)
|
|
|
|
NM_003072.5(SMARCA4):c.3603G>C (p.Val1201=)
|
rs948962654
|
|
|
NM_003072.5(SMARCA4):c.3603dup (p.Leu1202fs)
|
|
|
|
NM_003072.5(SMARCA4):c.3606C>A (p.Leu1202=)
|
|
|
|
NM_003072.5(SMARCA4):c.3606C>G (p.Leu1202=)
|
|
|
|
NM_003072.5(SMARCA4):c.3606C>T (p.Leu1202=)
|
rs1293459125
|
|
|
NM_003072.5(SMARCA4):c.3607C>T (p.Arg1203Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.360C>T (p.Tyr120=)
|
rs1555752854
|
|
|
NM_003072.5(SMARCA4):c.3610C>T (p.Leu1204Phe)
|
rs1555784504
|
|
|
NM_003072.5(SMARCA4):c.3612C>T (p.Leu1204=)
|
|
|
|
NM_003072.5(SMARCA4):c.3614G>A (p.Cys1205Tyr)
|
rs112043656
|
|
|
NM_003072.5(SMARCA4):c.3618C>G (p.Thr1206=)
|
|
|
|
NM_003072.5(SMARCA4):c.3619G>A (p.Val1207Ile)
|
rs201974258
|
|
|
NM_003072.5(SMARCA4):c.361C>T (p.Pro121Ser)
|
rs1599948709
|
|
|
NM_003072.5(SMARCA4):c.3621C>G (p.Val1207=)
|
rs2146650355
|
|
|
NM_003072.5(SMARCA4):c.3623A>G (p.Asn1208Ser)
|
rs2146650410
|
|
|
NM_003072.5(SMARCA4):c.3627C>T (p.Ser1209=)
|
rs564414398
|
|
|
NM_003072.5(SMARCA4):c.362C>T (p.Pro121Leu)
|
rs2086015204
|
|
|
NM_003072.5(SMARCA4):c.3630G>C (p.Val1210=)
|
rs1600389814
|
|
|
NM_003072.5(SMARCA4):c.3642C>T (p.Ile1214=)
|
rs2146651005
|
|
|
NM_003072.5(SMARCA4):c.3645A>G (p.Leu1215=)
|
rs1555784535
|
|
|
NM_003072.5(SMARCA4):c.3647C>T (p.Ala1216Val)
|
rs1600389938
|
|
|
NM_003072.5(SMARCA4):c.3648T>C (p.Ala1216=)
|
rs1600389972
|
|
|
NM_003072.5(SMARCA4):c.3648T>G (p.Ala1216=)
|
rs1600389972
|
|
|
NM_003072.5(SMARCA4):c.364T>C (p.Ser122Pro)
|
rs2086015550
|
|
|
NM_003072.5(SMARCA4):c.3651A>C (p.Ala1217=)
|
rs761985067
|
|
|
NM_003072.5(SMARCA4):c.3651A>G (p.Ala1217=)
|
rs761985067
|
|
|
NM_003072.5(SMARCA4):c.3654C>A (p.Ala1218=)
|
rs1555784539
|
|
|
NM_003072.5(SMARCA4):c.3654C>T (p.Ala1218=)
|
rs1555784539
|
|
|
NM_003072.5(SMARCA4):c.3657G>A (p.Lys1219=)
|
rs1600390075
|
|
|
NM_003072.5(SMARCA4):c.365C>A (p.Ser122Ter)
|
rs1555752859
|
|
|
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu)
|
rs1555752859
|
|
|
NM_003072.5(SMARCA4):c.3660C>T (p.Tyr1220=)
|
rs1555784543
|
|
|
NM_003072.5(SMARCA4):c.3666C>G (p.Leu1222=)
|
rs1600390148
|
|
|
NM_003072.5(SMARCA4):c.366G>T (p.Ser122=)
|
rs751116106
|
|
|
NM_003072.5(SMARCA4):c.3672G>A (p.Val1224=)
|
rs2146652260
|
|
|
NM_003072.5(SMARCA4):c.3672G>C (p.Val1224=)
|
|
|
|
NM_003072.5(SMARCA4):c.3675C>T (p.Asp1225=)
|
|
|
|
NM_003072.5(SMARCA4):c.3678G>A (p.Gln1226=)
|
rs2146652396
|
|
|
NM_003072.5(SMARCA4):c.3679A>G (p.Lys1227Glu)
|
rs1568509876
|
|
|
NM_003072.5(SMARCA4):c.367C>A (p.Pro123Thr)
|
rs1568421595
|
|
|
NM_003072.5(SMARCA4):c.3687C>T (p.Ile1229=)
|
|
|
|
NM_003072.5(SMARCA4):c.368C>A (p.Pro123His)
|
rs2145771332
|
|
|
NM_003072.5(SMARCA4):c.3694G>C (p.Gly1232Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3696C>T (p.Gly1232=)
|
|
|
|
NM_003072.5(SMARCA4):c.369C>G (p.Pro123=)
|
rs769607050
|
|
|
NM_003072.5(SMARCA4):c.369C>T (p.Pro123=)
|
rs769607050
|
|
|
NM_003072.5(SMARCA4):c.36T>C (p.Pro12=)
|
rs2145721031
|
|
|
NM_003072.5(SMARCA4):c.3703G>A (p.Asp1235Asn)
|
rs759192892
|
|
|
NM_003072.5(SMARCA4):c.370C>G (p.Leu124Val)
|
rs2145771417
|
|
|
NM_003072.5(SMARCA4):c.3711G>A (p.Lys1237=)
|
|
|
|
NM_003072.5(SMARCA4):c.3714C>A (p.Ser1238=)
|
rs2146653493
|
|
|
NM_003072.5(SMARCA4):c.3714C>G (p.Ser1238=)
|
rs2146653493
|
|
|
NM_003072.5(SMARCA4):c.3714C>T (p.Ser1238=)
|
rs2146653493
|
|
|
NM_003072.5(SMARCA4):c.3717C>G (p.Ser1239=)
|
rs746733739
|
|
|
NM_003072.5(SMARCA4):c.3718A>G (p.Ser1240Gly)
|
rs2075065054
|
|
|
NM_003072.5(SMARCA4):c.3721C>A (p.His1241Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3723T>C (p.His1241=)
|
rs2146653872
|
|
|
NM_003072.5(SMARCA4):c.3725del (p.Glu1242fs)
|
|
|
|
NM_003072.5(SMARCA4):c.3726G>A (p.Glu1242=)
|
rs1396665681
|
|
|
NM_003072.5(SMARCA4):c.3729G>C (p.Arg1243=)
|
|
|
|
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)
|
rs2146654092
|
|
|
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His)
|
rs1060502060
|
|
|
NM_003072.5(SMARCA4):c.3732C>G (p.Arg1244=)
|
rs797045983
|
|
|
NM_003072.5(SMARCA4):c.3732C>T (p.Arg1244=)
|
rs797045983
|
|
|
NM_003072.5(SMARCA4):c.3733G>A (p.Ala1245Thr)
|
rs1600390635
|
|
|
NM_003072.5(SMARCA4):c.3735C>T (p.Ala1245=)
|
rs2146654326
|
|
|
NM_003072.5(SMARCA4):c.3741G>A (p.Leu1247=)
|
rs1290701081
|
|
|
NM_003072.5(SMARCA4):c.3746C>T (p.Ala1249Val)
|
|
|
|
NM_003072.5(SMARCA4):c.374G>A (p.Gly125Asp)
|
rs757566936
|
|
|
NM_003072.5(SMARCA4):c.3750C>A (p.Ile1250=)
|
|
|
|
NM_003072.5(SMARCA4):c.3753G>A (p.Leu1251=)
|
rs2146655025
|
|
|
NM_003072.5(SMARCA4):c.3760G>A (p.Glu1254Lys)
|
rs2146655256
|
|
|
NM_003072.5(SMARCA4):c.3768G>A (p.Gln1256=)
|
|
|
|
NM_003072.5(SMARCA4):c.3768_3774+7dup
|
rs2146655619
|
|
|
NM_003072.5(SMARCA4):c.3769G>A (p.Asp1257Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3769G>C (p.Asp1257His)
|
rs878854214
|
|
|
NM_003072.5(SMARCA4):c.376G>A (p.Gly126Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.376G>C (p.Gly126Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.376G>T (p.Gly126Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.3771T>A (p.Asp1257Glu)
|
rs2146655723
|
|
|
NM_003072.5(SMARCA4):c.3774+10G>A
|
rs1555784620
|
|
|
NM_003072.5(SMARCA4):c.3774+10G>C
|
|
|
|
NM_003072.5(SMARCA4):c.3774+10G>T
|
rs1555784620
|
|
|
NM_003072.5(SMARCA4):c.3774+12A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3774+13C>G
|
rs1245520900
|
|
|
NM_003072.5(SMARCA4):c.3774+13C>T
|
rs1245520900
|
|
|
NM_003072.5(SMARCA4):c.3774+14C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3774+15G>T
|
rs553848593
|
|
|
NM_003072.5(SMARCA4):c.3774+16G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3774+18C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3774+1_3774+5dup
|
|
|
|
NM_003072.5(SMARCA4):c.3774+20C>A
|
rs377640724
|
|
|
NM_003072.5(SMARCA4):c.3774+2T>A
|
rs1475054297
|
|
|
NM_003072.5(SMARCA4):c.3774+2T>C
|
rs1475054297
|
|
|
NM_003072.5(SMARCA4):c.3774+2T>G
|
|
|
|
NM_003072.5(SMARCA4):c.3774+3G>C
|
rs1600390925
|
|
|
NM_003072.5(SMARCA4):c.3774+4A>G
|
rs1600390948
|
|
|
NM_003072.5(SMARCA4):c.3774+4A>T
|
rs1600390948
|
|
|
NM_003072.5(SMARCA4):c.3774+7C>G
|
rs2146656242
|
|
|
NM_003072.5(SMARCA4):c.3774+8del
|
rs2146656199
|
|
|
NM_003072.5(SMARCA4):c.3775-10T>C
|
rs1600393034
|
|
|
NM_003072.5(SMARCA4):c.3775-10_3775-7del
|
rs1060502076
|
|
|
NM_003072.5(SMARCA4):c.3775-12A>T
|
|
|
|
NM_003072.5(SMARCA4):c.3775-13T>A
|
|
|
|
NM_003072.5(SMARCA4):c.3775-14C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3775-14_3775-13insATA
|
|
|
|
NM_003072.5(SMARCA4):c.3775-17C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3775-17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3775-3C>A
|
rs376039891
|
|
|
NM_003072.5(SMARCA4):c.3775-3C>T
|
rs376039891
|
|
|
NM_003072.5(SMARCA4):c.3775-4A>G
|
rs926233307
|
|
|
NM_003072.5(SMARCA4):c.3775-5C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3775-6C>T
|
rs2146664016
|
|
|
NM_003072.5(SMARCA4):c.3775-8A>G
|
rs774456140
|
|
|
NM_003072.5(SMARCA4):c.3775-9T>A
|
|
|
|
NM_003072.5(SMARCA4):c.3775-9T>G
|
rs2146663886
|
|
|
NM_003072.5(SMARCA4):c.377G>T (p.Gly126Val)
|
rs2145771699
|
|
|
NM_003072.5(SMARCA4):c.3780A>G (p.Arg1260=)
|
|
|
|
NM_003072.5(SMARCA4):c.3782A>G (p.His1261Arg)
|
rs2075086500
|
|
|
NM_003072.5(SMARCA4):c.3783C>T (p.His1261=)
|
rs797045985
|
|
|
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.3787A>G (p.Ser1263Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.378C>A (p.Gly126=)
|
|
|
|
NM_003072.5(SMARCA4):c.378C>T (p.Gly126=)
|
rs1457215550
|
|
|
NM_003072.5(SMARCA4):c.3790A>G (p.Thr1264Ala)
|
rs2075086877
|
|
|
NM_003072.5(SMARCA4):c.3790A>T (p.Thr1264Ser)
|
rs2075086877
|
|
|
NM_003072.5(SMARCA4):c.3791C>A (p.Thr1264Lys)
|
rs377119410
|
|
|
NM_003072.5(SMARCA4):c.3792G>A (p.Thr1264=)
|
rs1333494917
|
|
|
NM_003072.5(SMARCA4):c.3794G>C (p.Gly1265Ala)
|
rs775157286
|
|
|
NM_003072.5(SMARCA4):c.3795C>A (p.Gly1265=)
|
rs760491416
|
|
|
NM_003072.5(SMARCA4):c.37C>A (p.Arg13=)
|
rs1568416700
|
|
|
NM_003072.5(SMARCA4):c.37C>T (p.Arg13Trp)
|
rs1568416700
|
|
|
NM_003072.5(SMARCA4):c.3807C>T (p.Ala1269=)
|
rs2146665764
|
|
|
NM_003072.5(SMARCA4):c.3808A>G (p.Ser1270Gly)
|
rs1600393477
|
|
|
NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs)
|
rs2075088671
|
|
|
NM_003072.5(SMARCA4):c.3810C>T (p.Ser1270=)
|
rs1364102436
|
|
|
NM_003072.5(SMARCA4):c.3813C>T (p.Phe1271=)
|
rs925020844
|
|
|
NM_003072.5(SMARCA4):c.3814G>T (p.Ala1272Ser)
|
rs776672640
|
|
|
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)
|
rs1600393629
|
|
|
NM_003072.5(SMARCA4):c.3819C>T (p.His1273=)
|
rs367811538
|
|
|
NM_003072.5(SMARCA4):c.381T>C (p.Ser127=)
|
|
|
|
NM_003072.5(SMARCA4):c.3820A>G (p.Thr1274Ala)
|
rs1600393687
|
|
|
NM_003072.5(SMARCA4):c.3823G>C (p.Ala1275Pro)
|
rs1600393728
|
|
|
NM_003072.5(SMARCA4):c.3825C>A (p.Ala1275=)
|
|
|
|
NM_003072.5(SMARCA4):c.3825C>T (p.Ala1275=)
|
rs1274327850
|
|
|
NM_003072.5(SMARCA4):c.3826C>A (p.Pro1276Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.3827C>G (p.Pro1276Arg)
|
rs2075090923
|
|
|
NM_003072.5(SMARCA4):c.3827del (p.Pro1276fs)
|
rs2146666663
|
|
|
NM_003072.5(SMARCA4):c.3830C>A (p.Pro1277Gln)
|
rs746219091
|
|
|
NM_003072.5(SMARCA4):c.3831G>C (p.Pro1277=)
|
rs371304615
|
|
|
NM_003072.5(SMARCA4):c.3833C>T (p.Pro1278Leu)
|
rs2075091471
|
|
|
NM_003072.5(SMARCA4):c.3836C>T (p.Ala1279Val)
|
rs1232715199
|
|
|
NM_003072.5(SMARCA4):c.3837G>A (p.Ala1279=)
|
rs2075091802
|
|
|
NM_003072.5(SMARCA4):c.3838G>A (p.Gly1280Ser)
|
rs2075091931
|
|
|
NM_003072.5(SMARCA4):c.3840C>A (p.Gly1280=)
|
|
|
|
NM_003072.5(SMARCA4):c.3840C>T (p.Gly1280=)
|
rs1260250073
|
|
|
NM_003072.5(SMARCA4):c.3844A>G (p.Asn1282Asp)
|
rs2075092306
|
|
|
NM_003072.5(SMARCA4):c.3848C>T (p.Pro1283Leu)
|
rs2146667556
|
|
|
NM_003072.5(SMARCA4):c.3849C>T (p.Pro1283=)
|
rs1201950108
|
|
|
NM_003072.5(SMARCA4):c.3851A>G (p.Asp1284Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3852C>T (p.Asp1284=)
|
rs1600394030
|
|
|
NM_003072.5(SMARCA4):c.3853T>C (p.Leu1285=)
|
|
|
|
NM_003072.5(SMARCA4):c.3855G>A (p.Leu1285=)
|
rs1600394125
|
|
|
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.3856G>C (p.Glu1286Gln)
|
rs2146667976
|
|
|
NM_003072.5(SMARCA4):c.3858G>C (p.Glu1286Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.3860A>T (p.Glu1287Val)
|
rs1568511022
|
|
|
NM_003072.5(SMARCA4):c.3861G>A (p.Glu1287=)
|
rs138177738
|
|
|
NM_003072.5(SMARCA4):c.3862C>T (p.Pro1288Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.3863C>T (p.Pro1288Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3865C>T (p.Pro1289Ser)
|
rs1356762692
|
|
|
NM_003072.5(SMARCA4):c.3866C>T (p.Pro1289Leu)
|
rs2146668438
|
|
|
NM_003072.5(SMARCA4):c.3868C>G (p.Leu1290Val)
|
rs1555784851
|
|
|
NM_003072.5(SMARCA4):c.3868C>T (p.Leu1290=)
|
rs1555784851
|
|
|
NM_003072.5(SMARCA4):c.3873+12A>T
|
|
|
|
NM_003072.5(SMARCA4):c.3873+16C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3873+17A>G
|
rs2146669495
|
|
|
NM_003072.5(SMARCA4):c.3873+19T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3873+20C>T
|
rs2146669587
|
|
|
NM_003072.5(SMARCA4):c.3873+3G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3873+5G>A
|
rs1057522951
|
|
|
NM_003072.5(SMARCA4):c.3873+6A>C
|
|
|
|
NM_003072.5(SMARCA4):c.3873+6_3873+7del
|
rs2146668744
|
|
|
NM_003072.5(SMARCA4):c.3873+8G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3873+8_3873+18del
|
rs2146668950
|
|
|
NM_003072.5(SMARCA4):c.3873+9G>A
|
rs756419673
|
|
|
NM_003072.5(SMARCA4):c.3873G>T (p.Lys1291Asn)
|
rs2075094217
|
|
|
NM_003072.5(SMARCA4):c.3874-10A>G
|
rs2146676951
|
|
|
NM_003072.5(SMARCA4):c.3874-11C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3874-12G>A
|
rs2146676856
|
|
|
NM_003072.5(SMARCA4):c.3874-16G>A
|
rs2075115952
|
|
|
NM_003072.5(SMARCA4):c.3874-16G>C
|
|
|
|
NM_003072.5(SMARCA4):c.3874-17A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3874-20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3874-4A>C
|
rs757767069
|
|
|
NM_003072.5(SMARCA4):c.3874-4A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3874-4A>T
|
rs757767069
|
|
|
NM_003072.5(SMARCA4):c.3874-5T>C
|
rs1600397317
|
|
|
NM_003072.5(SMARCA4):c.3874-6T>G
|
|
|
|
NM_003072.5(SMARCA4):c.3874-6_3874-5del
|
|
|
|
NM_003072.5(SMARCA4):c.3874-7C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3874-7C>T
|
rs2075116315
|
|
|
NM_003072.5(SMARCA4):c.3878A>G (p.Glu1293Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3879A>G (p.Glu1293=)
|
rs2146677550
|
|
|
NM_003072.5(SMARCA4):c.3880G>C (p.Asp1294His)
|
|
|
|
NM_003072.5(SMARCA4):c.3885G>A (p.Glu1295=)
|
rs2146677764
|
|
|
NM_003072.5(SMARCA4):c.3888G>A (p.Val1296=)
|
rs2075117210
|
|
|
NM_003072.5(SMARCA4):c.3888G>C (p.Val1296=)
|
|
|
|
NM_003072.5(SMARCA4):c.3888G>T (p.Val1296=)
|
rs2075117210
|
|
|
NM_003072.5(SMARCA4):c.388G>A (p.Ala130Thr)
|
rs779298300
|
|
|
NM_003072.5(SMARCA4):c.3891C>T (p.Pro1297=)
|
rs149562732
|
|
|
NM_003072.5(SMARCA4):c.3895G>A (p.Asp1299Asn)
|
rs747286271
|
|
|
NM_003072.5(SMARCA4):c.3898G>A (p.Glu1300Lys)
|
rs1555785006
|
|
|
NM_003072.5(SMARCA4):c.389C>T (p.Ala130Val)
|
|
|
|
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3906C>T (p.Val1302=)
|
rs2146678488
|
|
|
NM_003072.5(SMARCA4):c.3908A>G (p.Asn1303Ser)
|
rs2075118158
|
|
|
NM_003072.5(SMARCA4):c.3910C>T (p.Gln1304Ter)
|
rs2146678594
|
|
|
NM_003072.5(SMARCA4):c.3912G>A (p.Gln1304=)
|
rs1243671299
|
|
|
NM_003072.5(SMARCA4):c.3913A>G (p.Met1305Val)
|
rs1568512179
|
|
|
NM_003072.5(SMARCA4):c.3915G>T (p.Met1305Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.3916A>G (p.Ile1306Val)
|
rs1060502080
|
|
|
NM_003072.5(SMARCA4):c.391T>C (p.Ser131Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3924G>A (p.Arg1308=)
|
|
|
|
NM_003072.5(SMARCA4):c.3924G>C (p.Arg1308=)
|
|
|
|
NM_003072.5(SMARCA4):c.3925C>T (p.His1309Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.3926A>G (p.His1309Arg)
|
rs1158845896
|
|
|
NM_003072.5(SMARCA4):c.3927C>G (p.His1309Gln)
|
rs148495641
|
|
|
NM_003072.5(SMARCA4):c.3928G>A (p.Glu1310Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.3928G>C (p.Glu1310Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.3929A>T (p.Glu1310Val)
|
|
|
|
NM_003072.5(SMARCA4):c.392C>G (p.Ser131Cys)
|
rs1555752952
|
|
|
NM_003072.5(SMARCA4):c.392C>T (p.Ser131Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.3936G>A (p.Glu1312=)
|
rs2146679414
|
|
|
NM_003072.5(SMARCA4):c.393T>C (p.Ser131=)
|
rs1035733540
|
|
|
NM_003072.5(SMARCA4):c.3941A>T (p.Asp1314Val)
|
rs2075119766
|
|
|
NM_003072.5(SMARCA4):c.3942T>C (p.Asp1314=)
|
rs1600397879
|
|
|
NM_003072.5(SMARCA4):c.3943C>G (p.Leu1315Val)
|
rs1555785043
|
|
|
NM_003072.5(SMARCA4):c.3943C>T (p.Leu1315=)
|
rs1555785043
|
|
|
NM_003072.5(SMARCA4):c.3945G>A (p.Leu1315=)
|
rs878854216
|
|
|
NM_003072.5(SMARCA4):c.3945G>C (p.Leu1315=)
|
rs878854216
|
|
|
NM_003072.5(SMARCA4):c.3946T>C (p.Phe1316Leu)
|
rs2075120276
|
|
|
NM_003072.5(SMARCA4):c.3947T>A (p.Phe1316Tyr)
|
rs1455103075
|
|
|
NM_003072.5(SMARCA4):c.3950T>C (p.Met1317Thr)
|
rs1555785051
|
|
|
NM_003072.5(SMARCA4):c.3951+10G>A
|
rs764307487
|
|
|
NM_003072.5(SMARCA4):c.3951+12A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3951+14G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3951+15C>G
|
rs2075122098
|
|
|
NM_003072.5(SMARCA4):c.3951+19A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3951+2T>C
|
rs1555785056
|
|
|
NM_003072.5(SMARCA4):c.3951+3A>G
|
rs1600398046
|
|
|
NM_003072.5(SMARCA4):c.3951+4A>G
|
rs1600398069
|
|
|
NM_003072.5(SMARCA4):c.3951+5G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3951+7G>T
|
rs543683431
|
|
|
NM_003072.5(SMARCA4):c.3951G>A (p.Met1317Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.3952-11C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3952-11C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3952-11C>T
|
rs1555785321
|
|
|
NM_003072.5(SMARCA4):c.3952-11del
|
|
|
|
NM_003072.5(SMARCA4):c.3952-12C>A
|
rs2075172988
|
|
|
NM_003072.5(SMARCA4):c.3952-12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3952-13C>T
|
rs374611879
|
|
|
NM_003072.5(SMARCA4):c.3952-15dup
|
|
|
|
NM_003072.5(SMARCA4):c.3952-16C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3952-17G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3952-17G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3952-18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3952-1G>A
|
rs1600405252
|
|
|
NM_003072.5(SMARCA4):c.3952-20G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3952-2A>G
|
rs1308562238
|
|
|
NM_003072.5(SMARCA4):c.3952-5A>C
|
|
|
|
NM_003072.5(SMARCA4):c.3952-5A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3952-6C>T
|
rs1284158289
|
|
|
NM_003072.5(SMARCA4):c.3952-6dup
|
|
|
|
NM_003072.5(SMARCA4):c.3952-7C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3952-7C>T
|
rs1228057193
|
|
|
NM_003072.5(SMARCA4):c.3952-7CCA[3]
|
rs2146695409
|
|
|
NM_003072.5(SMARCA4):c.3952-9G>A
|
rs910572313
|
|
|
NM_003072.5(SMARCA4):c.3952-9G>T
|
rs910572313
|
|
|
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His)
|
rs2075174391
|
|
|
NM_003072.5(SMARCA4):c.3954C>T (p.Arg1318=)
|
rs1555785323
|
|
|
NM_003072.5(SMARCA4):c.3955A>C (p.Met1319Leu)
|
rs2075174627
|
|
|
NM_003072.5(SMARCA4):c.3955A>G (p.Met1319Val)
|
rs2075174627
|
|
|
NM_003072.5(SMARCA4):c.3956T>C (p.Met1319Thr)
|
rs2075174760
|
|
|
NM_003072.5(SMARCA4):c.3957G>A (p.Met1319Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.395G>A (p.Ser132Asn)
|
rs1568421747
|
|
|
NM_003072.5(SMARCA4):c.3960C>A (p.Asp1320Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.3961C>A (p.Leu1321Met)
|
|
|
|
NM_003072.5(SMARCA4):c.3961C>T (p.Leu1321=)
|
rs1195745951
|
|
|
NM_003072.5(SMARCA4):c.3967C>T (p.Arg1323Cys)
|
rs867953095
|
|
|
NM_003072.5(SMARCA4):c.3968G>A (p.Arg1323His)
|
rs61750054
|
|
|
NM_003072.5(SMARCA4):c.3969C>T (p.Arg1323=)
|
rs2075175651
|
|
|
NM_003072.5(SMARCA4):c.3970A>C (p.Arg1324=)
|
|
|
|
NM_003072.5(SMARCA4):c.3972G>A (p.Arg1324=)
|
rs1600405452
|
|
|
NM_003072.5(SMARCA4):c.3974G>A (p.Arg1325His)
|
rs1600405478
|
|
|
NM_003072.5(SMARCA4):c.3975C>G (p.Arg1325=)
|
rs144803359
|
|
|
NM_003072.5(SMARCA4):c.3976G>A (p.Glu1326Lys)
|
rs1482864360
|
|
|
NM_003072.5(SMARCA4):c.3977A>T (p.Glu1326Val)
|
rs2146696740
|
|
|
NM_003072.5(SMARCA4):c.3978G>A (p.Glu1326=)
|
|
|
|
NM_003072.5(SMARCA4):c.3978G>C (p.Glu1326Asp)
|
rs1060502090
|
|
|
NM_003072.5(SMARCA4):c.397C>T (p.Pro133Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.3980A>G (p.Glu1327Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3980_3981del (p.Glu1327fs)
|
|
|
|
NM_003072.5(SMARCA4):c.3981G>A (p.Glu1327=)
|
rs878854218
|
|
|
NM_003072.5(SMARCA4):c.3981G>T (p.Glu1327Asp)
|
rs878854218
|
|
|
NM_003072.5(SMARCA4):c.3984C>G (p.Ala1328=)
|
|
|
|
NM_003072.5(SMARCA4):c.3985C>G (p.Arg1329Gly)
|
rs878854219
|
|
|
NM_003072.5(SMARCA4):c.3985C>T (p.Arg1329Cys)
|
rs878854219
|
|
|
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His)
|
rs1555785361
|
|
|
NM_003072.5(SMARCA4):c.398C>T (p.Pro133Leu)
|
rs2145772612
|
|
|
NM_003072.5(SMARCA4):c.3990C>T (p.Asn1330=)
|
|
|
|
NM_003072.5(SMARCA4):c.3991C>G (p.Pro1331Ala)
|
rs1555785363
|
|
|
NM_003072.5(SMARCA4):c.3992C>T (p.Pro1331Leu)
|
rs1568514190
|
|
|
NM_003072.5(SMARCA4):c.3993C>T (p.Pro1331=)
|
rs747916992
|
|
|
NM_003072.5(SMARCA4):c.3995A>G (p.Lys1332Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3997C>A (p.Arg1333=)
|
rs1403269611
|
|
|
NM_003072.5(SMARCA4):c.3997C>T (p.Arg1333Trp)
|
rs1403269611
|
|
|
NM_003072.5(SMARCA4):c.3998G>A (p.Arg1333Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.3999G>A (p.Arg1333=)
|
rs2146697806
|
|
|
NM_003072.5(SMARCA4):c.399A>G (p.Pro133=)
|
rs2086018610
|
|
|
NM_003072.5(SMARCA4):c.399A>T (p.Pro133=)
|
|
|
|
NM_003072.5(SMARCA4):c.39G>A (p.Arg13=)
|
rs778412274
|
|
|
NM_003072.5(SMARCA4):c.39G>T (p.Arg13=)
|
|
|
|
NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile)
|
rs2145720045
|
|
|
NM_003072.5(SMARCA4):c.4001A>C (p.Lys1334Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4001A>G (p.Lys1334Arg)
|
rs2075177811
|
|
|
NM_003072.5(SMARCA4):c.4002G>C (p.Lys1334Asn)
|
rs2146697899
|
|
|
NM_003072.5(SMARCA4):c.4006C>T (p.Arg1336Cys)
|
rs1555785374
|
|
|
NM_003072.5(SMARCA4):c.4007G>A (p.Arg1336His)
|
|
|
|
NM_003072.5(SMARCA4):c.4011C>G (p.Leu1337=)
|
|
|
|
NM_003072.5(SMARCA4):c.4012A>C (p.Met1338Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4012A>G (p.Met1338Val)
|
rs1555785383
|
|
|
NM_003072.5(SMARCA4):c.4014G>A (p.Met1338Ile)
|
rs1462986718
|
|
|
NM_003072.5(SMARCA4):c.4017G>A (p.Glu1339=)
|
rs2075178788
|
|
|
NM_003072.5(SMARCA4):c.4022A>G (p.Asp1341Gly)
|
rs1600406074
|
|
|
NM_003072.5(SMARCA4):c.4027C>T (p.Leu1343Phe)
|
rs1394867973
|
|
|
NM_003072.5(SMARCA4):c.4029C>G (p.Leu1343=)
|
rs773914449
|
|
|
NM_003072.5(SMARCA4):c.4029C>T (p.Leu1343=)
|
rs773914449
|
|
|
NM_003072.5(SMARCA4):c.4032C>G (p.Pro1344=)
|
rs745307333
|
|
|
NM_003072.5(SMARCA4):c.4032C>T (p.Pro1344=)
|
rs745307333
|
|
|
NM_003072.5(SMARCA4):c.4033T>G (p.Ser1345Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4034C>T (p.Ser1345Leu)
|
rs746533073
|
|
|
NM_003072.5(SMARCA4):c.4035G>T (p.Ser1345=)
|
|
|
|
NM_003072.5(SMARCA4):c.4038G>T (p.Trp1346Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.403C>T (p.Pro135Ser)
|
rs150949949
|
|
|
NM_003072.5(SMARCA4):c.4043T>G (p.Ile1348Ser)
|
rs2146699503
|
|
|
NM_003072.5(SMARCA4):c.4047G>A (p.Lys1349=)
|
rs2146699677
|
|
|
NM_003072.5(SMARCA4):c.404C>T (p.Pro135Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4055C>T (p.Ala1352Val)
|
rs1568514549
|
|
|
NM_003072.5(SMARCA4):c.4059G>A (p.Glu1353=)
|
rs1339816788
|
|
|
NM_003072.5(SMARCA4):c.4062G>A (p.Val1354=)
|
rs1555785428
|
|
|
NM_003072.5(SMARCA4):c.4065G>A (p.Glu1355=)
|
rs2146700446
|
|
|
NM_003072.5(SMARCA4):c.4066C>T (p.Arg1356Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.4067G>T (p.Arg1356Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4068G>A (p.Arg1356=)
|
rs2146700562
|
|
|
NM_003072.5(SMARCA4):c.4069C>T (p.Leu1357=)
|
rs1348783929
|
|
|
NM_003072.5(SMARCA4):c.406G>T (p.Ala136Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4071G>C (p.Leu1357=)
|
rs1600406628
|
|
|
NM_003072.5(SMARCA4):c.4074C>G (p.Thr1358=)
|
rs1269190894
|
|
|
NM_003072.5(SMARCA4):c.4076G>A (p.Cys1359Tyr)
|
rs2075182244
|
|
|
NM_003072.5(SMARCA4):c.4076G>C (p.Cys1359Ser)
|
rs2075182244
|
|
|
NM_003072.5(SMARCA4):c.4077T>A (p.Cys1359Ter)
|
rs2146700981
|
|
|
NM_003072.5(SMARCA4):c.4077T>C (p.Cys1359=)
|
|
|
|
NM_003072.5(SMARCA4):c.4078GAG[4] (p.Glu1364del)
|
rs148514235
|
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
|
NM_003072.5(SMARCA4):c.4083G>A (p.Glu1361=)
|
rs1555785439
|
|
|
NM_003072.5(SMARCA4):c.4086G>A (p.Glu1362=)
|
rs773437442
|
|
|
NM_003072.5(SMARCA4):c.4087G>A (p.Glu1363Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4089G>A (p.Glu1363=)
|
rs2146701409
|
|
|
NM_003072.5(SMARCA4):c.4090G>C (p.Glu1364Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4091A>C (p.Glu1364Ala)
|
rs2075182920
|
|
|
NM_003072.5(SMARCA4):c.4091AGA[1] (p.Lys1365del)
|
rs1600406755
|
|
|
NM_003072.5(SMARCA4):c.4092G>A (p.Glu1364=)
|
rs2146701531
|
|
|
NM_003072.5(SMARCA4):c.4099T>C (p.Phe1367Leu)
|
rs2146701825
|
|
|
NM_003072.5(SMARCA4):c.40C>A (p.Pro14Thr)
|
rs754291337
|
|
|
NM_003072.5(SMARCA4):c.40_41delinsGA (p.Pro14Glu)
|
rs2145721177
|
|
|
NM_003072.5(SMARCA4):c.4101C>G (p.Phe1367Leu)
|
rs772075876
|
|
|
NM_003072.5(SMARCA4):c.4102G>A (p.Gly1368Ser)
|
rs1060502101
|
|
|
NM_003072.5(SMARCA4):c.4104C>T (p.Gly1368=)
|
rs1015099725
|
|
|
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys)
|
rs199962502
|
|
|
NM_003072.5(SMARCA4):c.4107T>C (p.Arg1369=)
|
rs2146702110
|
|
|
NM_003072.5(SMARCA4):c.4108G>A (p.Gly1370Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.410G>A (p.Ser137Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4112C>T (p.Ser1371Phe)
|
rs1555785467
|
|
|
NM_003072.5(SMARCA4):c.4113C>T (p.Ser1371=)
|
rs143621108
|
|
|
NM_003072.5(SMARCA4):c.4116C>G (p.Arg1372=)
|
rs2146702617
|
|
|
NM_003072.5(SMARCA4):c.4119C>T (p.His1373=)
|
|
|
|
NM_003072.5(SMARCA4):c.4120C>T (p.Arg1374Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.4121G>A (p.Arg1374His)
|
rs1060502070
|
|
|
NM_003072.5(SMARCA4):c.4127A>C (p.Glu1376Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4131G>A (p.Val1377=)
|
rs1555785500
|
|
|
NM_003072.5(SMARCA4):c.4137C>T (p.Tyr1379=)
|
rs961075294
|
|
|
NM_003072.5(SMARCA4):c.4139G>A (p.Ser1380Asn)
|
rs1555785521
|
|
|
NM_003072.5(SMARCA4):c.413G>A (p.Gly138Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4141G>A (p.Asp1381Asn)
|
rs2075186524
|
|
|
NM_003072.5(SMARCA4):c.4143C>T (p.Asp1381=)
|
|
|
|
NM_003072.5(SMARCA4):c.4145C>A (p.Ser1382Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4146A>C (p.Ser1382=)
|
|
|
|
NM_003072.5(SMARCA4):c.4146A>G (p.Ser1382=)
|
rs767883680
|
|
|
NM_003072.5(SMARCA4):c.4148_4159del (p.Leu1383_Lys1386del)
|
|
|
|
NM_003072.5(SMARCA4):c.4149G>A (p.Leu1383=)
|
rs546563978
|
|
|
NM_003072.5(SMARCA4):c.4149G>C (p.Leu1383=)
|
|
|
|
NM_003072.5(SMARCA4):c.414C>G (p.Gly138=)
|
|
|
|
NM_003072.5(SMARCA4):c.414C>T (p.Gly138=)
|
rs1568421853
|
|
|
NM_003072.5(SMARCA4):c.4152G>C (p.Thr1384=)
|
|
|
|
NM_003072.5(SMARCA4):c.4152G>T (p.Thr1384=)
|
rs372620534
|
|
|
NM_003072.5(SMARCA4):c.4155G>C (p.Glu1385Asp)
|
rs1600407349
|
|
|
NM_003072.5(SMARCA4):c.4167C>T (p.Leu1389=)
|
|
|
|
NM_003072.5(SMARCA4):c.4170+10G>A
|
rs979834436
|
|
|
NM_003072.5(SMARCA4):c.4170+12A>G
|
|
|
|
NM_003072.5(SMARCA4):c.4170+14A>G
|
|
|
|
NM_003072.5(SMARCA4):c.4170+15G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4170+16G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4170+17C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4170+17C>G
|
rs145829956
|
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
|
NM_003072.5(SMARCA4):c.4170+17_4170+36del
|
|
|
|
NM_003072.5(SMARCA4):c.4170+18C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4170+18C>G
|
rs768191285
|
|
|
NM_003072.5(SMARCA4):c.4170+19C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4170+19C>T
|
rs2146705623
|
|
|
NM_003072.5(SMARCA4):c.4170+1G>A
|
rs587777461
|
|
|
NM_003072.5(SMARCA4):c.4170+20A>G
|
|
|
|
NM_003072.5(SMARCA4):c.4170+4C>T
|
rs1600407451
|
|
|
NM_003072.5(SMARCA4):c.4170+5A>T
|
|
|
|
NM_003072.5(SMARCA4):c.4170+6T>C
|
rs1060502065
|
|
|
NM_003072.5(SMARCA4):c.4170+7G>A
|
rs529384250
|
|
|
NM_003072.5(SMARCA4):c.4170+8C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4170+8C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4171-12T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-15C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4171-15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1734_4171-1733delinsGC
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1735G>A
|
rs201156621
|
|
|
NM_003072.5(SMARCA4):c.4171-1735G>T
|
rs201156621
|
|
|
NM_003072.5(SMARCA4):c.4171-1736G>A
|
rs2075462939
|
|
|
NM_003072.5(SMARCA4):c.4171-1736G>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1736G>T
|
rs2075462939
|
|
|
NM_003072.5(SMARCA4):c.4171-1740T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1740TGG[2]
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1741C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1741C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1742T>A
|
rs2146778596
|
|
|
NM_003072.5(SMARCA4):c.4171-1743T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1744G>A
|
rs1060504428
|
|
|
NM_003072.5(SMARCA4):c.4171-1744G>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1745A>G
|
rs1309645994
|
|
|
NM_003072.5(SMARCA4):c.4171-1746G>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1748G>C
|
rs773006531
|
|
|
NM_003072.5(SMARCA4):c.4171-1749G>T
|
rs1000417349
|
|
|
NM_003072.5(SMARCA4):c.4171-1751G>A
|
rs1555787264
|
|
|
NM_003072.5(SMARCA4):c.4171-1751G>T
|
rs1555787264
|
|
|
NM_003072.5(SMARCA4):c.4171-1768A>T
|
rs2075457834
|
|
|
NM_003072.5(SMARCA4):c.4171-1770G>C
|
rs772645133
|
|
|
NM_003072.5(SMARCA4):c.4171-1770G>T
|
rs772645133
|
|
|
NM_003072.5(SMARCA4):c.4171-1774T>A
|
rs1600446408
|
|
|
NM_003072.5(SMARCA4):c.4171-1775G>A
|
rs1600446366
|
|
|
NM_003072.5(SMARCA4):c.4171-1782G>T
|
rs2075456219
|
|
|
NM_003072.5(SMARCA4):c.4171-1789C>T
|
rs2075455200
|
|
|
NM_003072.5(SMARCA4):c.4171-1790C>A
|
rs1481819938
|
|
|
NM_003072.5(SMARCA4):c.4171-1791T>A
|
rs1391604700
|
|
|
NM_003072.5(SMARCA4):c.4171-1799G>C
|
rs754407562
|
|
|
NM_003072.5(SMARCA4):c.4171-1802T>C
|
rs1600445874
|
|
|
NM_003072.5(SMARCA4):c.4171-1807G>T
|
rs2075452756
|
|
|
NM_003072.5(SMARCA4):c.4171-1821C>G
|
rs1600445482
|
|
|
NM_003072.5(SMARCA4):c.4171-1823C>T
|
rs1600445449
|
|
|
NM_003072.5(SMARCA4):c.4171-1842C>T
|
rs2075449703
|
|
|
NM_003072.5(SMARCA4):c.4171-1852T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1853G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1857T>G
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1858T>C
|
rs201309716
|
|
|
NM_003072.5(SMARCA4):c.4171-1860T>A
|
rs2146774798
|
|
|
NM_003072.5(SMARCA4):c.4171-1860T>G
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>C
|
rs771462690
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>T
|
rs771462690
|
|
|
NM_003072.5(SMARCA4):c.4171-1861del
|
rs551217010
|
|
|
NM_003072.5(SMARCA4):c.4171-1862A>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1863A>C
|
rs2146774646
|
|
|
NM_003072.5(SMARCA4):c.4171-1866A>T
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1867T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1869A>G
|
rs2075447084
|
|
|
NM_003072.5(SMARCA4):c.4171-1869A>T
|
|
|
|
NM_003072.5(SMARCA4):c.4171-3A>G
|
rs2146812535
|
|
|
NM_003072.5(SMARCA4):c.4171-4G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4171-5T>C
|
rs2146812439
|
|
|
NM_003072.5(SMARCA4):c.4171-6C>T
|
rs2146812365
|
|
|
NM_003072.5(SMARCA4):c.4171-7C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4171-8C>A
|
rs1555788051
|
|
|
NM_003072.5(SMARCA4):c.4171-9A>G
|
|
|
|
NM_003072.5(SMARCA4):c.4174A>G (p.Ile1392Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4177G>A (p.Glu1393Lys)
|
rs752264295
|
|
|
NM_003072.5(SMARCA4):c.4180G>A (p.Glu1394Lys)
|
rs1238368623
|
|
|
NM_003072.5(SMARCA4):c.4188G>T (p.Thr1396=)
|
rs199847974
|
|
|
NM_003072.5(SMARCA4):c.4189C>A (p.Leu1397Met)
|
|
|
|
NM_003072.5(SMARCA4):c.418T>C (p.Ser140Pro)
|
rs1022140074
|
|
|
NM_003072.5(SMARCA4):c.4191G>A (p.Leu1397=)
|
|
|
|
NM_003072.5(SMARCA4):c.4192GAG[1] (p.Glu1399del)
|
|
|
|
NM_003072.5(SMARCA4):c.4194G>A (p.Glu1398=)
|
rs1555788088
|
|
|
NM_003072.5(SMARCA4):c.4194G>C (p.Glu1398Asp)
|
rs1555788088
|
|
|
NM_003072.5(SMARCA4):c.4197G>T (p.Glu1399Asp)
|
rs2075597503
|
|
|
NM_003072.5(SMARCA4):c.419C>A (p.Ser140Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.419C>G (p.Ser140Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.4200C>G (p.Ile1400Met)
|
rs577059244
|
|
|
NM_003072.5(SMARCA4):c.4200_4201delinsAC (p.Glu1401Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4201G>A (p.Glu1401Lys)
|
rs756924224
|
|
|
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4206G>A (p.Glu1402=)
|
rs1555788104
|
|
|
NM_003072.5(SMARCA4):c.4207G>A (p.Glu1403Lys)
|
rs878854223
|
|
|
NM_003072.5(SMARCA4):c.4209G>C (p.Glu1403Asp)
|
rs2075598271
|
|
|
NM_003072.5(SMARCA4):c.4210G>T (p.Val1404Phe)
|
rs1555788108
|
|
|
NM_003072.5(SMARCA4):c.4212C>T (p.Val1404=)
|
rs1600466308
|
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
|
NM_003072.5(SMARCA4):c.4215G>A (p.Arg1405=)
|
rs1433578554
|
|
|
NM_003072.5(SMARCA4):c.4217A>G (p.Gln1406Arg)
|
rs2075599157
|
|
|
NM_003072.5(SMARCA4):c.4218G>A (p.Gln1406=)
|
|
|
|
NM_003072.5(SMARCA4):c.4220del (p.Lys1407fs)
|
|
|
|
NM_003072.5(SMARCA4):c.4221G>A (p.Lys1407=)
|
rs1384070535
|
|
|
NM_003072.5(SMARCA4):c.4225T>A (p.Ser1409Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4225TCA[1] (p.Ser1410del)
|
rs1600466492
|
|
|
NM_003072.5(SMARCA4):c.4227A>C (p.Ser1409=)
|
rs61761958
|
|
|
NM_003072.5(SMARCA4):c.4227A>T (p.Ser1409=)
|
rs61761958
|
|
|
NM_003072.5(SMARCA4):c.4228T>A (p.Ser1410Thr)
|
rs1282651436
|
|
|
NM_003072.5(SMARCA4):c.4228T>C (p.Ser1410Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.4230A>G (p.Ser1410=)
|
rs2146815245
|
|
|
NM_003072.5(SMARCA4):c.4231C>A (p.Arg1411=)
|
|
|
|
NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)
|
rs755455174
|
|
|
NM_003072.5(SMARCA4):c.4232G>T (p.Arg1411Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4233G>A (p.Arg1411=)
|
|
|
|
NM_003072.5(SMARCA4):c.4233G>C (p.Arg1411=)
|
|
|
|
NM_003072.5(SMARCA4):c.4237C>G (p.Arg1413Gly)
|
rs558017726
|
|
|
NM_003072.5(SMARCA4):c.4238G>A (p.Arg1413His)
|
|
|
|
NM_003072.5(SMARCA4):c.4238G>C (p.Arg1413Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.4239C>G (p.Arg1413=)
|
rs1555788140
|
|
|
NM_003072.5(SMARCA4):c.423G>A (p.Ser141=)
|
rs773010358
|
|
|
NM_003072.5(SMARCA4):c.423G>C (p.Ser141=)
|
rs773010358
|
|
|
NM_003072.5(SMARCA4):c.4240_4243del (p.Lys1414fs)
|
|
|
|
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter)
|
rs878854224
|
|
|
NM_003072.5(SMARCA4):c.4245A>C (p.Arg1415=)
|
|
|
|
NM_003072.5(SMARCA4):c.4245A>T (p.Arg1415=)
|
rs2146815930
|
|
|
NM_003072.5(SMARCA4):c.4246G>A (p.Asp1416Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4246G>C (p.Asp1416His)
|
rs1600466835
|
|
|
NM_003072.5(SMARCA4):c.4248C>T (p.Asp1416=)
|
rs1060504433
|
|
|
NM_003072.5(SMARCA4):c.4250G>A (p.Ser1417Asn)
|
rs1158882017
|
|
|
NM_003072.5(SMARCA4):c.4251C>A (p.Ser1417Arg)
|
rs377057304
|
|
|
NM_003072.5(SMARCA4):c.4252G>T (p.Asp1418Tyr)
|
rs761083981
|
|
|
NM_003072.5(SMARCA4):c.4254C>A (p.Asp1418Glu)
|
rs370380553
|
|
|
NM_003072.5(SMARCA4):c.4256C>T (p.Ala1419Val)
|
rs1413620647
|
|
|
NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser)
|
rs772153816
|
|
|
NM_003072.5(SMARCA4):c.4259G>C (p.Gly1420Ala)
|
rs1555788169
|
|
|
NM_003072.5(SMARCA4):c.4260C>T (p.Gly1420=)
|
rs766540716
|
|
|
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.4263C>T (p.Ser1421=)
|
rs2146816704
|
|
|
NM_003072.5(SMARCA4):c.4264T>C (p.Ser1422Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.4265C>T (p.Ser1422Phe)
|
rs2146816731
|
|
|
NM_003072.5(SMARCA4):c.4266C>T (p.Ser1422=)
|
|
|
|
NM_003072.5(SMARCA4):c.4267A>G (p.Thr1423Ala)
|
rs1258849439
|
|
|
NM_003072.5(SMARCA4):c.4267A>T (p.Thr1423Ser)
|
rs1258849439
|
|
|
NM_003072.5(SMARCA4):c.4269C>T (p.Thr1423=)
|
rs1555788185
|
|
|
NM_003072.5(SMARCA4):c.426G>A (p.Gly142=)
|
rs1599949380
|
|
|
NM_003072.5(SMARCA4):c.426G>T (p.Gly142=)
|
|
|
|
NM_003072.5(SMARCA4):c.4270C>G (p.Pro1424Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4271C>A (p.Pro1424Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4271C>G (p.Pro1424Arg)
|
rs760654888
|
|
|
NM_003072.5(SMARCA4):c.4272G>T (p.Pro1424=)
|
|
|
|
NM_003072.5(SMARCA4):c.4272_4275del (p.Thr1425fs)
|
|
|
|
NM_003072.5(SMARCA4):c.4274C>T (p.Thr1425Ile)
|
rs1340211412
|
|
|
NM_003072.5(SMARCA4):c.4274CCA[1] (p.Thr1426del)
|
|
|
|
NM_003072.5(SMARCA4):c.4275C>A (p.Thr1425=)
|
rs2075603748
|
|
|
NM_003072.5(SMARCA4):c.4275C>T (p.Thr1425=)
|
|
|
|
NM_003072.5(SMARCA4):c.4276A>G (p.Thr1426Ala)
|
rs1555788214
|
|
|
NM_003072.5(SMARCA4):c.4279_4284dup (p.Ser1427_Thr1428dup)
|
rs2146817173
|
|
|
NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser)
|
rs891010465
|
|
|
NM_003072.5(SMARCA4):c.4280G>A (p.Ser1427Asn)
|
rs1600467547
|
|
|
NM_003072.5(SMARCA4):c.4281C>T (p.Ser1427=)
|
rs1240105869
|
|
|
NM_003072.5(SMARCA4):c.4284C>G (p.Thr1428=)
|
|
|
|
NM_003072.5(SMARCA4):c.4284C>T (p.Thr1428=)
|
|
|
|
NM_003072.5(SMARCA4):c.4285C>T (p.Arg1429Cys)
|
rs1060502069
|
|
|
NM_003072.5(SMARCA4):c.4288A>G (p.Ser1430Gly)
|
rs1227801413
|
|
|
NM_003072.5(SMARCA4):c.4288_4290del (p.Ser1430del)
|
|
|
|
NM_003072.5(SMARCA4):c.4289G>A (p.Ser1430Asn)
|
rs2075604964
|
|
|
NM_003072.5(SMARCA4):c.428C>A (p.Pro143His)
|
|
|
|
NM_003072.5(SMARCA4):c.428C>T (p.Pro143Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4290C>A (p.Ser1430Arg)
|
rs879796805
|
|
|
NM_003072.5(SMARCA4):c.4290C>T (p.Ser1430=)
|
rs879796805
|
|
|
NM_003072.5(SMARCA4):c.4291C>G (p.Arg1431Gly)
|
rs587778681
|
|
|
NM_003072.5(SMARCA4):c.4294G>T (p.Asp1432Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.4295A>G (p.Asp1432Gly)
|
rs1555788260
|
|
|
NM_003072.5(SMARCA4):c.4296C>A (p.Asp1432Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4299G>T (p.Lys1433Asn)
|
rs1600467954
|
|
|
NM_003072.5(SMARCA4):c.429C>T (p.Pro143=)
|
|
|
|
NM_003072.5(SMARCA4):c.42A>C (p.Pro14=)
|
|
|
|
NM_003072.5(SMARCA4):c.4300G>A (p.Asp1434Asn)
|
rs756599243
|
|
|
NM_003072.5(SMARCA4):c.4301A>G (p.Asp1434Gly)
|
rs777893871
|
|
|
NM_003072.5(SMARCA4):c.4302C>A (p.Asp1434Glu)
|
rs146747026
|
|
|
NM_003072.5(SMARCA4):c.4302CGA[1] (p.Asp1435del)
|
rs2075606466
|
|
|
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)
|
rs796506759
|
|
|
NM_003072.5(SMARCA4):c.4303G>T (p.Asp1435Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.4305C>G (p.Asp1435Glu)
|
rs771071300
|
|
|
NM_003072.5(SMARCA4):c.4310G>C (p.Ser1437Thr)
|
rs1402031100
|
|
|
NM_003072.5(SMARCA4):c.4310G>T (p.Ser1437Ile)
|
rs1402031100
|
|
|
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys)
|
rs864622722
|
|
|
NM_003072.5(SMARCA4):c.4314G>A (p.Lys1438=)
|
rs1310103704
|
|
|
NM_003072.5(SMARCA4):c.4315A>C (p.Lys1439Gln)
|
rs2146819016
|
|
|
NM_003072.5(SMARCA4):c.4316A>G (p.Lys1439Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4318_4320del (p.Gln1440del)
|
|
|
|
NM_003072.5(SMARCA4):c.4320G>T (p.Gln1440His)
|
|
|
|
NM_003072.5(SMARCA4):c.4321AAG[1] (p.Lys1442del)
|
|
|
|
NM_003072.5(SMARCA4):c.4322A>G (p.Lys1441Arg)
|
rs1555788304
|
|
|
NM_003072.5(SMARCA4):c.4324A>C (p.Lys1442Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4329C>G (p.Arg1443=)
|
|
|
|
NM_003072.5(SMARCA4):c.432G>T (p.Gln144His)
|
|
|
|
NM_003072.5(SMARCA4):c.4330G>A (p.Gly1444Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4331G>C (p.Gly1444Ala)
|
rs2075609046
|
|
|
NM_003072.5(SMARCA4):c.4332G>A (p.Gly1444=)
|
|
|
|
NM_003072.5(SMARCA4):c.4333C>T (p.Arg1445Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.4334G>A (p.Arg1445Gln)
|
rs1060502068
|
|
|
NM_003072.5(SMARCA4):c.4335G>T (p.Arg1445=)
|
|
|
|
NM_003072.5(SMARCA4):c.4336C>T (p.Pro1446Ser)
|
rs1555788318
|
|
|
NM_003072.5(SMARCA4):c.4337C>T (p.Pro1446Leu)
|
rs760763271
|
|
|
NM_003072.5(SMARCA4):c.4338G>T (p.Pro1446=)
|
rs768651929
|
|
|
NM_003072.5(SMARCA4):c.433A>G (p.Met145Val)
|
rs1599949433
|
|
|
NM_003072.5(SMARCA4):c.433A>T (p.Met145Leu)
|
rs1599949433
|
|
|
NM_003072.5(SMARCA4):c.4340C>T (p.Pro1447Leu)
|
rs2146820178
|
|
|
NM_003072.5(SMARCA4):c.4342G>A (p.Ala1448Thr)
|
rs761338885
|
|
|
NM_003072.5(SMARCA4):c.4342G>C (p.Ala1448Pro)
|
rs761338885
|
|
|
NM_003072.5(SMARCA4):c.4345G>A (p.Glu1449Lys)
|
rs1568528491
|
|
|
NM_003072.5(SMARCA4):c.4345G>T (p.Glu1449Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4346A>G (p.Glu1449Gly)
|
rs1060502058
|
|
|
NM_003072.5(SMARCA4):c.4348A>G (p.Lys1450Glu)
|
rs2146820574
|
|
|
NM_003072.5(SMARCA4):c.4351C>G (p.Leu1451Val)
|
rs1568528504
|
|
|
NM_003072.5(SMARCA4):c.4352T>C (p.Leu1451Pro)
|
rs2075610848
|
|
|
NM_003072.5(SMARCA4):c.4355C>T (p.Ser1452Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.4359T>A (p.Pro1453=)
|
|
|
|
NM_003072.5(SMARCA4):c.435G>A (p.Met145Ile)
|
rs766377662
|
|
|
NM_003072.5(SMARCA4):c.4362C>T (p.Asn1454=)
|
rs530717926
|
|
|
NM_003072.5(SMARCA4):c.4363C>G (p.Pro1455Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4365A>C (p.Pro1455=)
|
|
|
|
NM_003072.5(SMARCA4):c.4365A>G (p.Pro1455=)
|
|
|
|
NM_003072.5(SMARCA4):c.4366C>T (p.Pro1456Ser)
|
rs2146821386
|
|
|
NM_003072.5(SMARCA4):c.4366_4369del (p.Pro1456fs)
|
|
|
|
NM_003072.5(SMARCA4):c.4367C>A (p.Pro1456His)
|
|
|
|
NM_003072.5(SMARCA4):c.4367C>G (p.Pro1456Arg)
|
rs2075611320
|
|
|
NM_003072.5(SMARCA4):c.4368C>T (p.Pro1456=)
|
rs2146821505
|
|
|
NM_003072.5(SMARCA4):c.4371C>T (p.Asn1457=)
|
rs2146821649
|
|
|
NM_003072.5(SMARCA4):c.4372C>G (p.Leu1458Val)
|
rs1600469027
|
|
|
NM_003072.5(SMARCA4):c.4372C>T (p.Leu1458Phe)
|
rs1600469027
|
|
|
NM_003072.5(SMARCA4):c.4376C>G (p.Thr1459Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile)
|
rs1555788341
|
|
|
NM_003072.5(SMARCA4):c.4378A>G (p.Lys1460Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4379A>G (p.Lys1460Arg)
|
rs2075611830
|
|
|
NM_003072.5(SMARCA4):c.4380G>A (p.Lys1460=)
|
|
|
|
NM_003072.5(SMARCA4):c.4380G>C (p.Lys1460Asn)
|
rs2146822019
|
|
|
NM_003072.5(SMARCA4):c.4381A>C (p.Lys1461Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4382A>T (p.Lys1461Met)
|
rs1600469070
|
|
|
NM_003072.5(SMARCA4):c.4383G>A (p.Lys1461=)
|
rs2146822112
|
|
|
NM_003072.5(SMARCA4):c.4388AGA[1] (p.Lys1464del)
|
|
|
|
NM_003072.5(SMARCA4):c.4389G>A (p.Lys1463=)
|
|
|
|
NM_003072.5(SMARCA4):c.4389G>T (p.Lys1463Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.438T>C (p.Ser146=)
|
rs1599949512
|
|
|
NM_003072.5(SMARCA4):c.438T>G (p.Ser146=)
|
|
|
|
NM_003072.5(SMARCA4):c.4391A>G (p.Lys1464Arg)
|
rs1555788352
|
|
|
NM_003072.5(SMARCA4):c.4392G>A (p.Lys1464=)
|
rs1600469159
|
|
|
NM_003072.5(SMARCA4):c.4392G>T (p.Lys1464Asn)
|
rs1600469159
|
|
|
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr)
|
rs1377505488
|
|
|
NM_003072.5(SMARCA4):c.4395T>C (p.Ile1465=)
|
rs1022708983
|
|
|
NM_003072.5(SMARCA4):c.43G>A (p.Gly15Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4401T>A (p.Asp1467Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4402G>T (p.Ala1468Ser)
|
rs1600469287
|
|
|
NM_003072.5(SMARCA4):c.4404C>A (p.Ala1468=)
|
rs552535004
|
|
|
NM_003072.5(SMARCA4):c.4404C>G (p.Ala1468=)
|
rs552535004
|
|
|
NM_003072.5(SMARCA4):c.4404C>T (p.Ala1468=)
|
rs552535004
|
|
|
NM_003072.5(SMARCA4):c.4406T>C (p.Val1469Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4406T>G (p.Val1469Gly)
|
rs2075613392
|
|
|
NM_003072.5(SMARCA4):c.4416C>T (p.Tyr1472=)
|
rs2146823505
|
|
|
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu)
|
rs878854227
|
|
|
NM_003072.5(SMARCA4):c.4420G>A (p.Asp1474Asn)
|
rs1555788376
|
|
|
NM_003072.5(SMARCA4):c.4424+12G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4424+14C>G
|
rs757315422
|
|
|
NM_003072.5(SMARCA4):c.4424+15G>C
|
rs191570676
|
|
|
NM_003072.5(SMARCA4):c.4424+16G>A
|
rs2146824512
|
|
|
NM_003072.5(SMARCA4):c.4424+17G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4424+18G>A
|
rs1424376113
|
|
|
NM_003072.5(SMARCA4):c.4424+18G>C
|
|
|
|
NM_003072.5(SMARCA4):c.4424+19A>C
|
|
|
|
NM_003072.5(SMARCA4):c.4424+4A>G
|
rs2146823944
|
|
|
NM_003072.5(SMARCA4):c.4424+5G>A
|
rs756617788
|
|
|
NM_003072.5(SMARCA4):c.4424+7G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4424+9G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4425-14G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4425-15G>A
|
rs2076657766
|
|
|
NM_003072.5(SMARCA4):c.4425-15G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4425-16C>G
|
rs531660064
|
|
|
NM_003072.5(SMARCA4):c.4425-16C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4425-17C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4425-18G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4425-19C>G
|
rs748176071
|
|
|
NM_003072.5(SMARCA4):c.4425-1G>A
|
rs766881255
|
|
|
NM_003072.5(SMARCA4):c.4425-3C>G
|
rs748738510
|
|
|
NM_003072.5(SMARCA4):c.4425-3C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4425-4G>A
|
rs2076658477
|
|
|
NM_003072.5(SMARCA4):c.4425-8C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4426A>T (p.Ser1476Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.4427G>A (p.Ser1476Asn)
|
rs2076659111
|
|
|
NM_003072.5(SMARCA4):c.442G>T (p.Gly148Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.4430G>A (p.Ser1477Asn)
|
rs770592452
|
|
|
NM_003072.5(SMARCA4):c.4430G>C (p.Ser1477Thr)
|
rs770592452
|
|
|
NM_003072.5(SMARCA4):c.4431T>C (p.Ser1477=)
|
rs1555794994
|
|
|
NM_003072.5(SMARCA4):c.4432G>C (p.Gly1478Arg)
|
rs2093999657
|
|
|
NM_003072.5(SMARCA4):c.4435C>T (p.Arg1479Cys)
|
rs1458830964
|
|
|
NM_003072.5(SMARCA4):c.443G>C (p.Gly148Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4441C>G (p.Leu1481Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4443C>A (p.Leu1481=)
|
|
|
|
NM_003072.5(SMARCA4):c.4443C>T (p.Leu1481=)
|
rs1600629850
|
|
|
NM_003072.5(SMARCA4):c.4444A>G (p.Ser1482Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4445G>T (p.Ser1482Ile)
|
rs2076660347
|
|
|
NM_003072.5(SMARCA4):c.4449G>C (p.Glu1483Asp)
|
rs776843815
|
|
|
NM_003072.5(SMARCA4):c.444G>A (p.Gly148=)
|
|
|
|
NM_003072.5(SMARCA4):c.444G>T (p.Gly148=)
|
rs2086023648
|
|
|
NM_003072.5(SMARCA4):c.4450G>A (p.Val1484Ile)
|
rs1600629958
|
|
|
NM_003072.5(SMARCA4):c.4451T>C (p.Val1484Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4452C>G (p.Val1484=)
|
rs2076661000
|
|
|
NM_003072.5(SMARCA4):c.4455C>T (p.Phe1485=)
|
rs2147085612
|
|
|
NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=)
|
rs550796495
|
|
|
NM_003072.5(SMARCA4):c.4459C>T (p.Gln1487Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.445C>T (p.Pro149Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4460A>G (p.Gln1487Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4461G>T (p.Gln1487His)
|
|
|
|
NM_003072.5(SMARCA4):c.4464G>A (p.Leu1488=)
|
rs1555795016
|
|
|
NM_003072.5(SMARCA4):c.4464G>C (p.Leu1488=)
|
rs1555795016
|
|
|
NM_003072.5(SMARCA4):c.4464G>T (p.Leu1488=)
|
rs1555795016
|
|
|
NM_003072.5(SMARCA4):c.4465C>G (p.Pro1489Ala)
|
rs2147086024
|
|
|
NM_003072.5(SMARCA4):c.4465_4466insT (p.Pro1489fs)
|
|
|
|
NM_003072.5(SMARCA4):c.4466C>G (p.Pro1489Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4467C>T (p.Pro1489=)
|
|
|
|
NM_003072.5(SMARCA4):c.4468_4485del (p.Ser1490_Pro1495del)
|
rs2076661206
|
|
|
NM_003072.5(SMARCA4):c.4469C>T (p.Ser1490Leu)
|
rs1329240441
|
|
|
NM_003072.5(SMARCA4):c.4470G>A (p.Ser1490=)
|
rs750556885
|
|
|
NM_003072.5(SMARCA4):c.4470G>C (p.Ser1490=)
|
|
|
|
NM_003072.5(SMARCA4):c.4471C>A (p.Arg1491=)
|
rs758517117
|
|
|
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter)
|
rs758517117
|
|
|
NM_003072.5(SMARCA4):c.4472G>A (p.Arg1491Gln)
|
rs1388483526
|
|
|
NM_003072.5(SMARCA4):c.4474A>C (p.Lys1492Gln)
|
rs1060502075
|
|
|
NM_003072.5(SMARCA4):c.4475A>G (p.Lys1492Arg)
|
rs1188183781
|
|
|
NM_003072.5(SMARCA4):c.4478A>C (p.Glu1493Ala)
|
rs1568560821
|
|
|
NM_003072.5(SMARCA4):c.4479G>A (p.Glu1493=)
|
rs1568560832
|
|
|
NM_003072.5(SMARCA4):c.4479G>T (p.Glu1493Asp)
|
rs1568560832
|
|
|
NM_003072.5(SMARCA4):c.447A>G (p.Pro149=)
|
|
|
|
NM_003072.5(SMARCA4):c.4482G>T (p.Leu1494=)
|
rs1600630316
|
|
|
NM_003072.5(SMARCA4):c.4483C>T (p.Pro1495Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4484C>T (p.Pro1495Leu)
|
rs2147086899
|
|
|
NM_003072.5(SMARCA4):c.4485C>A (p.Pro1495=)
|
|
|
|
NM_003072.5(SMARCA4):c.448G>A (p.Gly150Arg)
|
rs1555753081
|
|
|
NM_003072.5(SMARCA4):c.4495G>A (p.Glu1499Lys)
|
rs1555795053
|
|
|
NM_003072.5(SMARCA4):c.4496A>C (p.Glu1499Ala)
|
rs1555795056
|
|
|
NM_003072.5(SMARCA4):c.4497G>A (p.Glu1499=)
|
rs1264821826
|
|
|
NM_003072.5(SMARCA4):c.449G>A (p.Gly150Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.44G>A (p.Gly15Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.44G>C (p.Gly15Ala)
|
rs1060502077
|
|
|
NM_003072.5(SMARCA4):c.44G>T (p.Gly15Val)
|
rs1060502077
|
|
|
NM_003072.5(SMARCA4):c.4503C>T (p.Ile1501=)
|
rs1555795060
|
|
|
NM_003072.5(SMARCA4):c.4504C>T (p.Arg1502Cys)
|
rs1181505860
|
|
|
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His)
|
rs1555795063
|
|
|
NM_003072.5(SMARCA4):c.4506C>G (p.Arg1502=)
|
|
|
|
NM_003072.5(SMARCA4):c.4506C>T (p.Arg1502=)
|
|
|
|
NM_003072.5(SMARCA4):c.4507A>G (p.Lys1503Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4509G>T (p.Lys1503Asn)
|
rs1600630618
|
|
|
NM_003072.5(SMARCA4):c.450A>G (p.Gly150=)
|
rs369026160
|
|
|
NM_003072.5(SMARCA4):c.450A>T (p.Gly150=)
|
rs369026160
|
|
|
NM_003072.5(SMARCA4):c.4519T>G (p.Phe1507Val)
|
|
|
|
NM_003072.5(SMARCA4):c.451G>A (p.Gly151Ser)
|
rs962808170
|
|
|
NM_003072.5(SMARCA4):c.4521C>G (p.Phe1507Leu)
|
rs2147088411
|
|
|
NM_003072.5(SMARCA4):c.4523A>G (p.Lys1508Arg)
|
rs1400097305
|
|
|
NM_003072.5(SMARCA4):c.4524G>C (p.Lys1508Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4524G>T (p.Lys1508Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.452G>T (p.Gly151Val)
|
rs755746907
|
|
|
NM_003072.5(SMARCA4):c.4532A>G (p.Lys1511Arg)
|
rs2076664922
|
|
|
NM_003072.5(SMARCA4):c.4533+10A>G
|
rs2076665895
|
|
|
NM_003072.5(SMARCA4):c.4533+11C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4533+12G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4533+13T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4533+14T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4533+14_4533+16del
|
rs747806032
|
|
|
NM_003072.5(SMARCA4):c.4533+16dup
|
|
|
|
NM_003072.5(SMARCA4):c.4533+18C>T
|
rs2147089552
|
|
|
NM_003072.5(SMARCA4):c.4533+19C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4533+19C>T
|
rs1220366915
|
|
|
NM_003072.5(SMARCA4):c.4533+19_4533+29del
|
|
|
|
NM_003072.5(SMARCA4):c.4533+20T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4533+4A>G
|
|
|
|
NM_003072.5(SMARCA4):c.4533+5C>A
|
rs778368597
|
|
|
NM_003072.5(SMARCA4):c.4533+5C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4533+6C>G
|
rs1311909722
|
|
|
NM_003072.5(SMARCA4):c.4533+7C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4533+7C>T
|
rs1298157926
|
|
|
NM_003072.5(SMARCA4):c.4533+8T>C
|
rs1350672669
|
|
|
NM_003072.5(SMARCA4):c.4534-14C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4534-15_4534-13del
|
|
|
|
NM_003072.5(SMARCA4):c.4534-16C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4534-17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4534-19C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4534-4G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4534-6C>T
|
rs1555795315
|
|
|
NM_003072.5(SMARCA4):c.4534-7A>G
|
rs1718750372
|
|
|
NM_003072.5(SMARCA4):c.4534-7del
|
|
|
|
NM_003072.5(SMARCA4):c.4534-8C>T
|
rs2147096461
|
|
|
NM_003072.5(SMARCA4):c.4534-9C>G
|
rs1271762916
|
|
|
NM_003072.5(SMARCA4):c.4534-9C>T
|
rs1271762916
|
|
|
NM_003072.5(SMARCA4):c.4536G>A (p.Glu1512=)
|
rs774583744
|
|
|
NM_003072.5(SMARCA4):c.4537C>T (p.Arg1513Cys)
|
rs985886104
|
|
|
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His)
|
rs1600635111
|
|
|
NM_003072.5(SMARCA4):c.4539C>T (p.Arg1513=)
|
rs765751495
|
|
|
NM_003072.5(SMARCA4):c.4543C>T (p.Arg1515Cys)
|
rs1166347946
|
|
|
NM_003072.5(SMARCA4):c.4544G>A (p.Arg1515His)
|
rs1555795341
|
|
|
NM_003072.5(SMARCA4):c.4544G>T (p.Arg1515Leu)
|
rs1555795341
|
|
|
NM_003072.5(SMARCA4):c.4545C>A (p.Arg1515=)
|
rs1600635214
|
|
|
NM_003072.5(SMARCA4):c.4545C>G (p.Arg1515=)
|
rs1600635214
|
|
|
NM_003072.5(SMARCA4):c.4545C>T (p.Arg1515=)
|
|
|
|
NM_003072.5(SMARCA4):c.4548C>T (p.Asn1516=)
|
rs1325003130
|
|
|
NM_003072.5(SMARCA4):c.454G>T (p.Ala152Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4551C>T (p.His1517=)
|
rs2147097105
|
|
|
NM_003072.5(SMARCA4):c.4553A>G (p.Lys1518Arg)
|
rs2147097206
|
|
|
NM_003072.5(SMARCA4):c.4558C>T (p.Arg1520Cys)
|
rs1057523119
|
|
|
NM_003072.5(SMARCA4):c.4559G>A (p.Arg1520His)
|
rs1600635365
|
|
|
NM_003072.5(SMARCA4):c.4560C>T (p.Arg1520=)
|
rs1600635378
|
|
|
NM_003072.5(SMARCA4):c.4561A>G (p.Ser1521Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4563C>T (p.Ser1521=)
|
rs1600635404
|
|
|
NM_003072.5(SMARCA4):c.4568A>G (p.Asn1523Ser)
|
rs1555795360
|
|
|
NM_003072.5(SMARCA4):c.4569C>A (p.Asn1523Lys)
|
rs34389675
|
|
|
NM_003072.5(SMARCA4):c.4569C>G (p.Asn1523Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.456C>A (p.Ala152=)
|
rs1555753110
|
|
|
NM_003072.5(SMARCA4):c.456C>T (p.Ala152=)
|
rs1555753110
|
|
|
NM_003072.5(SMARCA4):c.4570G>A (p.Asp1524Asn)
|
rs2076693372
|
|
|
NM_003072.5(SMARCA4):c.4573C>A (p.Leu1525Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.4573C>G (p.Leu1525Val)
|
rs1555795366
|
|
|
NM_003072.5(SMARCA4):c.4573C>T (p.Leu1525=)
|
rs1555795366
|
|
|
NM_003072.5(SMARCA4):c.4576G>C (p.Glu1526Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4577A>G (p.Glu1526Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4578G>A (p.Glu1526=)
|
rs2147097819
|
|
|
NM_003072.5(SMARCA4):c.4578G>C (p.Glu1526Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4584C>A (p.Asp1528Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4588A>G (p.Met1530Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4589T>A (p.Met1530Lys)
|
rs1600635680
|
|
|
NM_003072.5(SMARCA4):c.4589T>C (p.Met1530Thr)
|
rs1600635680
|
|
|
NM_003072.5(SMARCA4):c.458C>A (p.Pro153Gln)
|
rs539710314
|
|
|
NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile)
|
rs1555795386
|
|
|
NM_003072.5(SMARCA4):c.4591C>A (p.Leu1531Ile)
|
rs1555795394
|
|
|
NM_003072.5(SMARCA4):c.4596G>A (p.Leu1532=)
|
rs377000132
|
|
|
NM_003072.5(SMARCA4):c.4598G>A (p.Cys1533Tyr)
|
rs2147098389
|
|
|
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=)
|
rs372931195
|
|
|
NM_003072.5(SMARCA4):c.459G>C (p.Pro153=)
|
|
|
|
NM_003072.5(SMARCA4):c.459G>T (p.Pro153=)
|
rs372931195
|
|
|
NM_003072.5(SMARCA4):c.45T>A (p.Gly15=)
|
|
|
|
NM_003072.5(SMARCA4):c.4600C>T (p.Gln1534Ter)
|
rs2076695154
|
|
|
NM_003072.5(SMARCA4):c.4602G>A (p.Gln1534=)
|
rs757889804
|
|
|
NM_003072.5(SMARCA4):c.4602G>C (p.Gln1534His)
|
rs757889804
|
|
|
NM_003072.5(SMARCA4):c.4606G>A (p.Ala1536Thr)
|
rs2147098587
|
|
|
NM_003072.5(SMARCA4):c.4607C>T (p.Ala1536Val)
|
|
|
|
NM_003072.5(SMARCA4):c.460C>T (p.Leu154=)
|
rs1555753128
|
|
|
NM_003072.5(SMARCA4):c.4613C>T (p.Thr1538Ile)
|
rs2076695584
|
|
|
NM_003072.5(SMARCA4):c.4614C>G (p.Thr1538=)
|
rs1060504460
|
|
|
NM_003072.5(SMARCA4):c.4614C>T (p.Thr1538=)
|
rs1060504460
|
|
|
NM_003072.5(SMARCA4):c.4617C>T (p.Phe1539=)
|
rs2147098902
|
|
|
NM_003072.5(SMARCA4):c.461T>C (p.Leu154Pro)
|
rs1236457430
|
|
|
NM_003072.5(SMARCA4):c.4620C>T (p.Asn1540=)
|
rs751869068
|
|
|
NM_003072.5(SMARCA4):c.4621C>T (p.Leu1541=)
|
|
|
|
NM_003072.5(SMARCA4):c.4624G>A (p.Glu1542Lys)
|
rs1057523176
|
|
|
NM_003072.5(SMARCA4):c.462G>A (p.Leu154=)
|
|
|
|
NM_003072.5(SMARCA4):c.4632C>G (p.Ser1544=)
|
rs2147099211
|
|
|
NM_003072.5(SMARCA4):c.4633C>T (p.Leu1545=)
|
rs1555795434
|
|
|
NM_003072.5(SMARCA4):c.4635+10C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4635+11C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4635+12G>T
|
rs34930626
|
|
|
NM_003072.5(SMARCA4):c.4635+13C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4635+18G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4635+18G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4635+19G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4635+3G>A
|
rs1568562563
|
|
|
NM_003072.5(SMARCA4):c.4635+5G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4635+6G>A
|
rs1164626701
|
|
|
NM_003072.5(SMARCA4):c.4635+6G>C
|
rs1164626701
|
|
|
NM_003072.5(SMARCA4):c.4635+8C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4635G>A (p.Leu1545=)
|
rs2147099255
|
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
|
NM_003072.5(SMARCA4):c.4636-12G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4636-12G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4636-13T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4636-14G>A
|
rs942701381
|
|
|
NM_003072.5(SMARCA4):c.4636-17del
|
|
|
|
NM_003072.5(SMARCA4):c.4636-18C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4636-19C>T
|
rs2147112088
|
|
|
NM_003072.5(SMARCA4):c.4636-1G>A
|
rs1290351732
|
|
|
NM_003072.5(SMARCA4):c.4636-1G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4636-3C>A
|
rs1555795859
|
|
|
NM_003072.5(SMARCA4):c.4636-3C>T
|
rs1555795859
|
|
|
NM_003072.5(SMARCA4):c.4636-3dup
|
rs1555795854
|
|
|
NM_003072.5(SMARCA4):c.4636-4C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4636-5C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4636-6G>C
|
|
|
|
NM_003072.5(SMARCA4):c.463G>A (p.Asp155Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4640A>G (p.Tyr1547Cys)
|
rs1600643435
|
|
|
NM_003072.5(SMARCA4):c.4641T>C (p.Tyr1547=)
|
rs1261206842
|
|
|
NM_003072.5(SMARCA4):c.4646A>C (p.Asp1549Ala)
|
rs2147113068
|
|
|
NM_003072.5(SMARCA4):c.4647C>G (p.Asp1549Glu)
|
rs1260006751
|
|
|
NM_003072.5(SMARCA4):c.4649C>T (p.Ser1550Phe)
|
rs1555795874
|
|
|
NM_003072.5(SMARCA4):c.4650C>T (p.Ser1550=)
|
rs1060504431
|
|
|
NM_003072.5(SMARCA4):c.4651A>T (p.Ile1551Phe)
|
rs2076750711
|
|
|
NM_003072.5(SMARCA4):c.4653C>T (p.Ile1551=)
|
rs975606798
|
|
|
NM_003072.5(SMARCA4):c.4654G>A (p.Val1552Ile)
|
rs1555795880
|
|
|
NM_003072.5(SMARCA4):c.4655T>A (p.Val1552Asp)
|
rs2147113284
|
|
|
NM_003072.5(SMARCA4):c.4655T>C (p.Val1552Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4659G>A (p.Leu1553=)
|
rs2147113412
|
|
|
NM_003072.5(SMARCA4):c.4660C>G (p.Gln1554Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4660C>T (p.Gln1554Ter)
|
rs1555795884
|
|
|
NM_003072.5(SMARCA4):c.4662G>A (p.Gln1554=)
|
|
|
|
NM_003072.5(SMARCA4):c.4662G>T (p.Gln1554His)
|
|
|
|
NM_003072.5(SMARCA4):c.4663T>A (p.Ser1555Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4663T>G (p.Ser1555Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4664C>G (p.Ser1555Trp)
|
rs1057523990
|
|
|
NM_003072.5(SMARCA4):c.4665G>A (p.Ser1555=)
|
rs1201916615
|
|
|
NM_003072.5(SMARCA4):c.4665G>C (p.Ser1555=)
|
|
|
|
NM_003072.5(SMARCA4):c.4666G>T (p.Val1556Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs)
|
rs797045987
|
|
|
NM_003072.5(SMARCA4):c.466G>A (p.Gly156Ser)
|
rs954975906
|
|
|
NM_003072.5(SMARCA4):c.466G>T (p.Gly156Cys)
|
rs954975906
|
|
|
NM_003072.5(SMARCA4):c.4671C>T (p.Phe1557=)
|
|
|
|
NM_003072.5(SMARCA4):c.4672A>G (p.Thr1558Ala)
|
rs1060502083
|
|
|
NM_003072.5(SMARCA4):c.4673_4675del (p.Thr1558del)
|
rs2076751615
|
|
|
NM_003072.5(SMARCA4):c.4676G>A (p.Ser1559Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4678G>A (p.Val1560Met)
|
rs374983142
|
|
|
NM_003072.5(SMARCA4):c.4678G>C (p.Val1560Leu)
|
rs374983142
|
|
|
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)
|
rs374983142
|
|
|
NM_003072.5(SMARCA4):c.4679T>A (p.Val1560Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.467G>A (p.Gly156Asp)
|
rs1555753146
|
|
|
NM_003072.5(SMARCA4):c.467G>T (p.Gly156Val)
|
rs1555753146
|
|
|
NM_003072.5(SMARCA4):c.4681C>G (p.Arg1561Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4683G>A (p.Arg1561=)
|
|
|
|
NM_003072.5(SMARCA4):c.4683G>T (p.Arg1561=)
|
|
|
|
NM_003072.5(SMARCA4):c.4684C>T (p.Gln1562Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His)
|
rs1600643911
|
|
|
NM_003072.5(SMARCA4):c.4689A>G (p.Lys1563=)
|
rs779314653
|
|
|
NM_003072.5(SMARCA4):c.468T>C (p.Gly156=)
|
rs2145774929
|
|
|
NM_003072.5(SMARCA4):c.4692C>G (p.Ile1564Met)
|
|
|
|
NM_003072.5(SMARCA4):c.4693G>A (p.Glu1565Lys)
|
rs1568564514
|
|
|
NM_003072.5(SMARCA4):c.4695G>A (p.Glu1565=)
|
rs200665075
|
|
|
NM_003072.5(SMARCA4):c.4696_4698del (p.Lys1566del)
|
rs1375203306
|
|
|
NM_003072.5(SMARCA4):c.4697A>T (p.Lys1566Met)
|
rs2076752907
|
|
|
NM_003072.5(SMARCA4):c.4698G>A (p.Lys1566=)
|
rs1431532543
|
|
|
NM_003072.5(SMARCA4):c.4698GGA[1] (p.Glu1567del)
|
rs1555795933
|
|
|
NM_003072.5(SMARCA4):c.469G>A (p.Ala157Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4700A>G (p.Glu1567Gly)
|
rs1310082332
|
|
|
NM_003072.5(SMARCA4):c.4700A>T (p.Glu1567Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4701G>A (p.Glu1567=)
|
|
|
|
NM_003072.5(SMARCA4):c.4702G>A (p.Asp1568Asn)
|
rs1060502099
|
|
|
NM_003072.5(SMARCA4):c.4704_4718del (p.Asp1568_Gly1572del)
|
rs1568564616
|
|
|
NM_003072.5(SMARCA4):c.4706A>G (p.Asp1569Gly)
|
rs2147114941
|
|
|
NM_003072.5(SMARCA4):c.4706A>T (p.Asp1569Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4707C>T (p.Asp1569=)
|
|
|
|
NM_003072.5(SMARCA4):c.4709G>A (p.Ser1570Asn)
|
rs966588548
|
|
|
NM_003072.5(SMARCA4):c.4709G>T (p.Ser1570Ile)
|
rs966588548
|
|
|
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val)
|
rs2145775018
|
|
|
NM_003072.5(SMARCA4):c.4710T>C (p.Ser1570=)
|
rs1600644236
|
|
|
NM_003072.5(SMARCA4):c.4713A>T (p.Glu1571Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4714G>A (p.Gly1572Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4715G>A (p.Gly1572Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4715G>T (p.Gly1572Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4716C>A (p.Gly1572=)
|
rs1368796043
|
|
|
NM_003072.5(SMARCA4):c.4717GAG[1] (p.Glu1574del)
|
|
|
|
NM_003072.5(SMARCA4):c.4719G>C (p.Glu1573Asp)
|
rs1306229985
|
|
|
NM_003072.5(SMARCA4):c.4722G>C (p.Glu1574Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4725T>A (p.Ser1575Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4725T>C (p.Ser1575=)
|
rs1555795982
|
|
|
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4728G>A (p.Glu1576=)
|
|
|
|
NM_003072.5(SMARCA4):c.4728GGA[2] (p.Glu1580del)
|
rs1555795992
|
|
|
NM_003072.5(SMARCA4):c.4729G>A (p.Glu1577Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4732G>A (p.Glu1578Lys)
|
rs1555795999
|
|
|
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln)
|
rs1555795999
|
|
|
NM_003072.5(SMARCA4):c.4734G>A (p.Glu1578=)
|
rs878854230
|
|
|
NM_003072.5(SMARCA4):c.4734_4751del (p.Glu1579_Glu1584del)
|
|
|
|
NM_003072.5(SMARCA4):c.4735G>A (p.Glu1579Lys)
|
rs1568564823
|
|
|
NM_003072.5(SMARCA4):c.4738G>T (p.Glu1580Ter)
|
rs1600644640
|
|
|
NM_003072.5(SMARCA4):c.4739_4753del (p.Glu1580_Glu1584del)
|
rs2147115638
|
|
|
NM_003072.5(SMARCA4):c.4740G>A (p.Glu1580=)
|
|
|
|
NM_003072.5(SMARCA4):c.4741G>A (p.Gly1581Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4741G>T (p.Gly1581Cys)
|
rs1600644688
|
|
|
NM_003072.5(SMARCA4):c.4742G>A (p.Gly1581Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4742_4747dup (p.Gly1581_Glu1582dup)
|
rs2055163263
|
|
|
NM_003072.5(SMARCA4):c.4746G>A (p.Glu1582=)
|
|
|
|
NM_003072.5(SMARCA4):c.4748A>G (p.Glu1583Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4749G>A (p.Glu1583=)
|
rs1205508248
|
|
|
NM_003072.5(SMARCA4):c.4749G>C (p.Glu1583Asp)
|
rs1205508248
|
|
|
NM_003072.5(SMARCA4):c.474C>A (p.Asp158Glu)
|
rs1599950027
|
|
|
NM_003072.5(SMARCA4):c.474C>T (p.Asp158=)
|
rs1599950027
|
|
|
NM_003072.5(SMARCA4):c.4753G>A (p.Gly1585Ser)
|
rs2076756606
|
|
|
NM_003072.5(SMARCA4):c.4754G>C (p.Gly1585Ala)
|
rs148115492
|
|
|
NM_003072.5(SMARCA4):c.4757C>G (p.Ser1586Cys)
|
rs773055372
|
|
|
NM_003072.5(SMARCA4):c.4757C>T (p.Ser1586Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.4758C>G (p.Ser1586=)
|
|
|
|
NM_003072.5(SMARCA4):c.4759G>A (p.Glu1587Lys)
|
rs1568564931
|
|
|
NM_003072.5(SMARCA4):c.475C>T (p.Pro159Ser)
|
rs2145775190
|
|
|
NM_003072.5(SMARCA4):c.4764C>A (p.Ser1588=)
|
rs754496173
|
|
|
NM_003072.5(SMARCA4):c.4764C>G (p.Ser1588=)
|
|
|
|
NM_003072.5(SMARCA4):c.4765G>A (p.Glu1589Lys)
|
rs141826721
|
|
|
NM_003072.5(SMARCA4):c.4765G>C (p.Glu1589Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4768+10G>C
|
rs201665695
|
|
|
NM_003072.5(SMARCA4):c.4768+11G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4768+11G>C
|
|
|
|
NM_003072.5(SMARCA4):c.4768+12G>A
|
rs571251860
|
|
|
NM_003072.5(SMARCA4):c.4768+12G>C
|
|
|
|
NM_003072.5(SMARCA4):c.4768+14G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4768+15G>A
|
rs113131294
|
|
|
NM_003072.5(SMARCA4):c.4768+15G>T
|
rs113131294
|
|
|
NM_003072.5(SMARCA4):c.4768+15_4768+16delinsCA
|
|
|
|
NM_003072.5(SMARCA4):c.4768+16G>A
|
rs151265814
|
|
|
NM_003072.5(SMARCA4):c.4768+16del
|
rs770591183
|
|
|
NM_003072.5(SMARCA4):c.4768+16dup
|
rs770591183
|
|
|
NM_003072.5(SMARCA4):c.4768+18T>G
|
rs2147117637
|
|
|
NM_003072.5(SMARCA4):c.4768+18del
|
rs2147117603
|
|
|
NM_003072.5(SMARCA4):c.4768+19C>T
|
rs994326244
|
|
|
NM_003072.5(SMARCA4):c.4768+3G>A
|
rs2076757838
|
|
|
NM_003072.5(SMARCA4):c.4768+5G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4768+7C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4768+9dup
|
rs1555796040
|
|
|
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro)
|
rs1555796035
|
|
|
NM_003072.5(SMARCA4):c.4769-10T>G
|
rs2076771715
|
|
|
NM_003072.5(SMARCA4):c.4769-11G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4769-11G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4769-12G>C
|
rs1164249697
|
|
|
NM_003072.5(SMARCA4):c.4769-12G>T
|
rs1164249697
|
|
|
NM_003072.5(SMARCA4):c.4769-14C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4769-15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4769-2A>G
|
|
|
|
NM_003072.5(SMARCA4):c.4769-5T>C
|
rs2147123179
|
|
|
NM_003072.5(SMARCA4):c.4769-6C>G
|
rs2076772410
|
|
|
NM_003072.5(SMARCA4):c.4769-6C>T
|
rs2076772410
|
|
|
NM_003072.5(SMARCA4):c.4769-76_4769-11del
|
|
|
|
NM_003072.5(SMARCA4):c.4769-7C>G
|
rs907366824
|
|
|
NM_003072.5(SMARCA4):c.4769-7C>T
|
rs907366824
|
|
|
NM_003072.5(SMARCA4):c.4769-8C>G
|
rs1161200824
|
|
|
NM_003072.5(SMARCA4):c.4769-9C>G
|
rs1457763107
|
|
|
NM_003072.5(SMARCA4):c.4769-9C>T
|
rs1457763107
|
|
|
NM_003072.5(SMARCA4):c.4769C>T (p.Ser1590Phe)
|
rs2076772762
|
|
|
NM_003072.5(SMARCA4):c.476C>G (p.Pro159Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4772G>C (p.Arg1591Pro)
|
rs1356932636
|
|
|
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=)
|
rs568650875
|
|
|
NM_003072.5(SMARCA4):c.4776C>A (p.Ser1592=)
|
rs1292187087
|
|
|
NM_003072.5(SMARCA4):c.4776C>G (p.Ser1592=)
|
|
|
|
NM_003072.5(SMARCA4):c.4777G>T (p.Val1593Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.4779C>T (p.Val1593=)
|
|
|
|
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg)
|
rs1555796197
|
|
|
NM_003072.5(SMARCA4):c.4784T>G (p.Val1595Gly)
|
rs1600647899
|
|
|
NM_003072.5(SMARCA4):c.4789A>G (p.Ile1597Val)
|
rs2076773708
|
|
|
NM_003072.5(SMARCA4):c.4789A>T (p.Ile1597Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.478C>A (p.Gln160Lys)
|
rs2145775329
|
|
|
NM_003072.5(SMARCA4):c.4790T>A (p.Ile1597Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4791C>T (p.Ile1597=)
|
rs2147123937
|
|
|
NM_003072.5(SMARCA4):c.4792A>C (p.Lys1598Gln)
|
rs2076773793
|
|
|
NM_003072.5(SMARCA4):c.4795C>A (p.Leu1599Ile)
|
rs1060502091
|
|
|
NM_003072.5(SMARCA4):c.4795C>T (p.Leu1599Phe)
|
rs1060502091
|
|
|
NM_003072.5(SMARCA4):c.4798G>C (p.Gly1600Arg)
|
rs1600648042
|
|
|
NM_003072.5(SMARCA4):c.479A>G (p.Gln160Arg)
|
rs2145775356
|
|
|
NM_003072.5(SMARCA4):c.47C>G (p.Pro16Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4800C>T (p.Gly1600=)
|
|
|
|
NM_003072.5(SMARCA4):c.4801C>A (p.Arg1601=)
|
rs766797299
|
|
|
NM_003072.5(SMARCA4):c.4805A>C (p.Lys1602Thr)
|
rs1485676007
|
|
|
NM_003072.5(SMARCA4):c.4806G>A (p.Lys1602=)
|
|
|
|
NM_003072.5(SMARCA4):c.4807_4809del (p.Glu1603del)
|
rs1600648184
|
|
|
NM_003072.5(SMARCA4):c.4811A>G (p.Lys1604Arg)
|
rs2076775574
|
|
|
NM_003072.5(SMARCA4):c.4812G>A (p.Lys1604=)
|
rs2147124529
|
|
|
NM_003072.5(SMARCA4):c.4813G>C (p.Ala1605Pro)
|
rs141224876
|
|
|
NM_003072.5(SMARCA4):c.4814C>T (p.Ala1605Val)
|
rs2076775823
|
|
|
NM_003072.5(SMARCA4):c.4817A>C (p.Gln1606Pro)
|
rs878854231
|
|
|
NM_003072.5(SMARCA4):c.481G>T (p.Ala161Ser)
|
rs1295034696
|
|
|
NM_003072.5(SMARCA4):c.4821C>G (p.Asp1607Glu)
|
rs2076776364
|
|
|
NM_003072.5(SMARCA4):c.4822dup (p.Arg1608fs)
|
rs2076776472
|
|
|
NM_003072.5(SMARCA4):c.4823G>T (p.Arg1608Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4824G>C (p.Arg1608=)
|
|
|
|
NM_003072.5(SMARCA4):c.4825C>A (p.Leu1609Met)
|
rs878854232
|
|
|
NM_003072.5(SMARCA4):c.4825C>T (p.Leu1609=)
|
rs878854232
|
|
|
NM_003072.5(SMARCA4):c.4827G>C (p.Leu1609=)
|
rs1555796260
|
|
|
NM_003072.5(SMARCA4):c.4828A>G (p.Lys1610Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4829A>C (p.Lys1610Thr)
|
rs1555796263
|
|
|
NM_003072.5(SMARCA4):c.4831G>A (p.Gly1611Ser)
|
rs2076777557
|
|
|
NM_003072.5(SMARCA4):c.4834G>T (p.Gly1612Cys)
|
rs372319442
|
|
|
NM_003072.5(SMARCA4):c.4837C>A (p.Arg1613=)
|
rs1370639203
|
|
|
NM_003072.5(SMARCA4):c.4838G>A (p.Arg1613Gln)
|
rs1568565957
|
|
|
NM_003072.5(SMARCA4):c.4838GGC[2] (p.Arg1615del)
|
rs1311890122
|
|
|
NM_003072.5(SMARCA4):c.4839_4848del (p.Arg1614fs)
|
|
|
|
NM_003072.5(SMARCA4):c.483C>G (p.Ala161=)
|
rs1555753188
|
|
|
NM_003072.5(SMARCA4):c.483C>T (p.Ala161=)
|
rs1555753188
|
|
|
NM_003072.5(SMARCA4):c.4840C>T (p.Arg1614Trp)
|
rs1568565971
|
|
|
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln)
|
rs878854233
|
|
|
NM_003072.5(SMARCA4):c.4845G>C (p.Arg1615=)
|
|
|
|
NM_003072.5(SMARCA4):c.4846C>T (p.Pro1616Ser)
|
rs2147125383
|
|
|
NM_003072.5(SMARCA4):c.4847C>A (p.Pro1616Gln)
|
rs878854234
|
|
|
NM_003072.5(SMARCA4):c.4847C>G (p.Pro1616Arg)
|
rs878854234
|
|
|
NM_003072.5(SMARCA4):c.484T>C (p.Leu162=)
|
rs2145775609
|
|
|
NM_003072.5(SMARCA4):c.4850G>T (p.Ser1617Ile)
|
rs1600648852
|
|
|
NM_003072.5(SMARCA4):c.4851C>A (p.Ser1617Arg)
|
rs1568566076
|
|
|
NM_003072.5(SMARCA4):c.4852C>T (p.Arg1618Ter)
|
rs1306144699
|
|
|
NM_003072.5(SMARCA4):c.4853G>C (p.Arg1618Pro)
|
rs1029465394
|
|
|
NM_003072.5(SMARCA4):c.4853G>T (p.Arg1618Leu)
|
rs1029465394
|
|
|
NM_003072.5(SMARCA4):c.4857G>A (p.Gly1619=)
|
rs1600648977
|
|
|
NM_003072.5(SMARCA4):c.4859C>G (p.Ser1620Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.4859C>T (p.Ser1620Phe)
|
rs1600649021
|
|
|
NM_003072.5(SMARCA4):c.485T>C (p.Leu162Ser)
|
rs2086028307
|
|
|
NM_003072.5(SMARCA4):c.4860C>A (p.Ser1620=)
|
rs1555796321
|
|
|
NM_003072.5(SMARCA4):c.4860C>T (p.Ser1620=)
|
rs1555796321
|
|
|
NM_003072.5(SMARCA4):c.4861C>G (p.Arg1621Gly)
|
rs955207258
|
|
|
NM_003072.5(SMARCA4):c.4861C>T (p.Arg1621Ter)
|
rs955207258
|
|
|
NM_003072.5(SMARCA4):c.4862G>T (p.Arg1621Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4863A>G (p.Arg1621=)
|
rs1600649116
|
|
|
NM_003072.5(SMARCA4):c.4865C>A (p.Ala1622Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4866C>G (p.Ala1622=)
|
rs1600649152
|
|
|
NM_003072.5(SMARCA4):c.4867A>T (p.Lys1623Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg)
|
rs1600649183
|
|
|
NM_003072.5(SMARCA4):c.4869G>A (p.Lys1623=)
|
|
|
|
NM_003072.5(SMARCA4):c.4870C>T (p.Pro1624Ser)
|
rs1555796335
|
|
|
NM_003072.5(SMARCA4):c.4871C>A (p.Pro1624Gln)
|
rs756255060
|
|
|
NM_003072.5(SMARCA4):c.4871C>G (p.Pro1624Arg)
|
rs756255060
|
|
|
NM_003072.5(SMARCA4):c.4872G>T (p.Pro1624=)
|
rs182644267
|
|
|
NM_003072.5(SMARCA4):c.4873G>T (p.Val1625Phe)
|
rs1600649293
|
|
|
NM_003072.5(SMARCA4):c.4875C>A (p.Val1625=)
|
|
|
|
NM_003072.5(SMARCA4):c.4875C>G (p.Val1625=)
|
|
|
|
NM_003072.5(SMARCA4):c.4876G>C (p.Val1626Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4877T>C (p.Val1626Ala)
|
rs2076781393
|
|
|
NM_003072.5(SMARCA4):c.4878G>T (p.Val1626=)
|
|
|
|
NM_003072.5(SMARCA4):c.4880G>A (p.Ser1627Asn)
|
rs2076781506
|
|
|
NM_003072.5(SMARCA4):c.4887_4888delinsCT (p.Asp1630Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.4887_4888inv (p.Asp1630Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4887_4889del (p.Asp1630del)
|
rs2147126620
|
|
|
NM_003072.5(SMARCA4):c.4888G>C (p.Asp1630His)
|
|
|
|
NM_003072.5(SMARCA4):c.4889A>G (p.Asp1630Gly)
|
rs2147126711
|
|
|
NM_003072.5(SMARCA4):c.4890C>A (p.Asp1630Glu)
|
rs918621161
|
|
|
NM_003072.5(SMARCA4):c.4890C>G (p.Asp1630Glu)
|
rs918621161
|
|
|
NM_003072.5(SMARCA4):c.4891A>G (p.Ser1631Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys)
|
rs1600649575
|
|
|
NM_003072.5(SMARCA4):c.4892G>A (p.Ser1631Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4894G>A (p.Glu1632Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4897G>A (p.Glu1633Lys)
|
rs2076782634
|
|
|
NM_003072.5(SMARCA4):c.4899G>A (p.Glu1633=)
|
rs982968342
|
|
|
NM_003072.5(SMARCA4):c.489G>C (p.Gly163=)
|
rs1201612670
|
|
|
NM_003072.5(SMARCA4):c.489G>T (p.Gly163=)
|
rs1201612670
|
|
|
NM_003072.5(SMARCA4):c.4900G>T (p.Glu1634Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4901A>C (p.Glu1634Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4902A>C (p.Glu1634Asp)
|
rs2147127066
|
|
|
NM_003072.5(SMARCA4):c.4902A>G (p.Glu1634=)
|
rs2147127066
|
|
|
NM_003072.5(SMARCA4):c.4903C>T (p.Gln1635Ter)
|
rs2147127094
|
|
|
NM_003072.5(SMARCA4):c.4904_4905del (p.Gln1635fs)
|
rs2147127143
|
|
|
NM_003072.5(SMARCA4):c.4905A>C (p.Gln1635His)
|
rs908806258
|
|
|
NM_003072.5(SMARCA4):c.4905A>G (p.Gln1635=)
|
rs908806258
|
|
|
NM_003072.5(SMARCA4):c.4906G>A (p.Glu1636Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4908G>A (p.Glu1636=)
|
|
|
|
NM_003072.5(SMARCA4):c.4909_4910delinsTT (p.Glu1637Leu)
|
rs1600649855
|
|
|
NM_003072.5(SMARCA4):c.490C>G (p.Gln164Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter)
|
rs2145775805
|
|
|
NM_003072.5(SMARCA4):c.4910_4911+1del
|
rs745740277
|
|
|
NM_003072.5(SMARCA4):c.4911+11G>A
|
rs2147127853
|
|
|
NM_003072.5(SMARCA4):c.4911+12C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4911+13C>T
|
rs766568868
|
|
|
NM_003072.5(SMARCA4):c.4911+14C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4911+15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4911+15_4911+16delinsTT
|
rs2147128101
|
|
|
NM_003072.5(SMARCA4):c.4911+16del
|
|
|
|
NM_003072.5(SMARCA4):c.4911+16dup
|
rs769996403
|
|
|
NM_003072.5(SMARCA4):c.4911+17G>A
|
rs367836094
|
|
|
NM_003072.5(SMARCA4):c.4911+17G>C
|
rs367836094
|
|
|
NM_003072.5(SMARCA4):c.4911+17G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4911+18A>G
|
|
|
|
NM_003072.5(SMARCA4):c.4911+19G>C
|
|
|
|
NM_003072.5(SMARCA4):c.4911+19G>T
|
|
|
|
NM_003072.5(SMARCA4):c.4911+20C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4911+20C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4911+3G>A
|
rs2076783963
|
|
|
NM_003072.5(SMARCA4):c.4911+6G>T
|
rs878854235
|
|
|
NM_003072.5(SMARCA4):c.4911+7C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4911+9G>C
|
rs374677046
|
|
|
NM_003072.5(SMARCA4):c.4911G>A (p.Glu1637=)
|
rs2147127404
|
|
|
NM_003072.5(SMARCA4):c.4912-10C>T
|
rs779982511
|
|
|
NM_003072.5(SMARCA4):c.4912-11C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4912-16C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4912-16_4912-14del
|
|
|
|
NM_003072.5(SMARCA4):c.4912-17T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4912-18C>A
|
|
|
|
NM_003072.5(SMARCA4):c.4912-18C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4912-19C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4912-2A>G
|
rs2147157781
|
|
|
NM_003072.5(SMARCA4):c.4912-4C>G
|
rs1555797433
|
|
|
NM_003072.5(SMARCA4):c.4912-6C>T
|
rs768412013
|
|
|
NM_003072.5(SMARCA4):c.4912-8C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4912-9C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4912G>A (p.Asp1638Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4916G>T (p.Arg1639Leu)
|
rs867536416
|
|
|
NM_003072.5(SMARCA4):c.4918T>A (p.Ser1640Thr)
|
rs1568570437
|
|
|
NM_003072.5(SMARCA4):c.4918T>C (p.Ser1640Pro)
|
rs1568570437
|
|
|
NM_003072.5(SMARCA4):c.4919C>G (p.Ser1640Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4919C>T (p.Ser1640Leu)
|
rs1345181111
|
|
|
NM_003072.5(SMARCA4):c.4920A>G (p.Ser1640=)
|
rs1600666777
|
|
|
NM_003072.5(SMARCA4):c.4921G>C (p.Gly1641Arg)
|
rs1188692885
|
|
|
NM_003072.5(SMARCA4):c.4922G>A (p.Gly1641Glu)
|
rs1555797457
|
|
|
NM_003072.5(SMARCA4):c.4924A>G (p.Ser1642Gly)
|
rs2147158155
|
|
|
NM_003072.5(SMARCA4):c.4927G>A (p.Gly1643Ser)
|
rs2076917822
|
|
|
NM_003072.5(SMARCA4):c.4929C>T (p.Gly1643=)
|
rs1555797474
|
|
|
NM_003072.5(SMARCA4):c.492G>A (p.Gln164=)
|
|
|
|
NM_003072.5(SMARCA4):c.492G>T (p.Gln164His)
|
rs1555753201
|
|
|
NM_003072.5(SMARCA4):c.4931G>A (p.Ser1644Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4933G>A (p.Glu1645Lys)
|
rs1261182514
|
|
|
NM_003072.5(SMARCA4):c.4935A>G (p.Glu1645=)
|
rs1060504456
|
|
|
NM_003072.5(SMARCA4):c.4935AGA[1] (p.Glu1646del)
|
rs2076918196
|
|
|
NM_003072.5(SMARCA4):c.4936G>A (p.Glu1646Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4939G>T (p.Asp1647Tyr)
|
rs2076918536
|
|
|
NM_003072.5(SMARCA4):c.493C>T (p.Gln165Ter)
|
rs1568422286
|
|
|
NM_003072.5(SMARCA4):c.4942T>C (p.Ter1648Arg)
|
rs2076918636
|
|
|
NM_003072.5(SMARCA4):c.4944A>G (p.Ter1648Trp)
|
rs772894995
|
|
|
NM_003072.5(SMARCA4):c.4944A>T (p.Ter1648Cys)
|
rs772894995
|
|
|
NM_003072.5(SMARCA4):c.494del (p.Gln165fs)
|
|
|
|
NM_003072.5(SMARCA4):c.496A>G (p.Asn166Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.499C>A (p.Arg167=)
|
rs11537673
|
|
|
NM_003072.5(SMARCA4):c.501G>A (p.Arg167=)
|
|
|
|
NM_003072.5(SMARCA4):c.502G>A (p.Gly168Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.503G>A (p.Gly168Asp)
|
rs1171738627
|
|
|
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.508A>C (p.Thr170Pro)
|
rs773273784
|
|
|
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.509C>T (p.Thr170Ile)
|
rs762871878
|
|
|
NM_003072.5(SMARCA4):c.50C>T (p.Ser17Phe)
|
rs2085806321
|
|
|
NM_003072.5(SMARCA4):c.510C>A (p.Thr170=)
|
rs1599950452
|
|
|
NM_003072.5(SMARCA4):c.510C>G (p.Thr170=)
|
|
|
|
NM_003072.5(SMARCA4):c.511C>A (p.Pro171Thr)
|
rs1599950466
|
|
|
NM_003072.5(SMARCA4):c.511C>T (p.Pro171Ser)
|
rs1599950466
|
|
|
NM_003072.5(SMARCA4):c.519C>T (p.Asn173=)
|
rs2145776914
|
|
|
NM_003072.5(SMARCA4):c.51C>G (p.Ser17=)
|
rs1438233071
|
|
|
NM_003072.5(SMARCA4):c.520C>T (p.Gln174Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.521A>G (p.Gln174Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.523A>C (p.Asn175His)
|
|
|
|
NM_003072.5(SMARCA4):c.525C>T (p.Asn175=)
|
rs2145777105
|
|
|
NM_003072.5(SMARCA4):c.526C>G (p.Gln176Glu)
|
rs2086031789
|
|
|
NM_003072.5(SMARCA4):c.528G>A (p.Gln176=)
|
rs910767531
|
|
|
NM_003072.5(SMARCA4):c.529C>G (p.Leu177Val)
|
rs1555753296
|
|
|
NM_003072.5(SMARCA4):c.529C>T (p.Leu177=)
|
rs1555753296
|
|
|
NM_003072.5(SMARCA4):c.530T>G (p.Leu177Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.531G>T (p.Leu177=)
|
rs1202886812
|
|
|
NM_003072.5(SMARCA4):c.532C>T (p.His178Tyr)
|
rs2145777525
|
|
|
NM_003072.5(SMARCA4):c.534C>G (p.His178Gln)
|
rs759429379
|
|
|
NM_003072.5(SMARCA4):c.534C>T (p.His178=)
|
|
|
|
NM_003072.5(SMARCA4):c.535C>T (p.Gln179Ter)
|
rs1469271544
|
|
|
NM_003072.5(SMARCA4):c.537G>A (p.Gln179=)
|
|
|
|
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)
|
rs1060502087
|
|
|
NM_003072.5(SMARCA4):c.540C>G (p.Leu180=)
|
|
|
|
NM_003072.5(SMARCA4):c.540C>T (p.Leu180=)
|
rs2145777819
|
|
|
NM_003072.5(SMARCA4):c.544G>A (p.Ala182Thr)
|
rs1599950706
|
|
|
NM_003072.5(SMARCA4):c.544G>T (p.Ala182Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.545C>G (p.Ala182Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.545C>T (p.Ala182Val)
|
|
|
|
NM_003072.5(SMARCA4):c.546T>C (p.Ala182=)
|
|
|
|
NM_003072.5(SMARCA4):c.549G>A (p.Gln183=)
|
rs1402231056
|
|
|
NM_003072.5(SMARCA4):c.54G>C (p.Pro18=)
|
rs529632222
|
|
|
NM_003072.5(SMARCA4):c.54_71del (p.14PGPSPG[1])
|
|
|
|
NM_003072.5(SMARCA4):c.553A>G (p.Met185Val)
|
rs1568422504
|
|
|
NM_003072.5(SMARCA4):c.554T>A (p.Met185Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.556G>A (p.Ala186Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.557C>T (p.Ala186Val)
|
rs942370486
|
|
|
NM_003072.5(SMARCA4):c.558C>T (p.Ala186=)
|
|
|
|
NM_003072.5(SMARCA4):c.561C>G (p.Tyr187Ter)
|
rs1305866080
|
|
|
NM_003072.5(SMARCA4):c.561C>T (p.Tyr187=)
|
rs1305866080
|
|
|
NM_003072.5(SMARCA4):c.563A>G (p.Lys188Arg)
|
rs2086034556
|
|
|
NM_003072.5(SMARCA4):c.564G>A (p.Lys188=)
|
|
|
|
NM_003072.5(SMARCA4):c.565A>T (p.Met189Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.566T>A (p.Met189Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.568C>T (p.Leu190=)
|
|
|
|
NM_003072.5(SMARCA4):c.56G>A (p.Gly19Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.56G>C (p.Gly19Ala)
|
rs1222542093
|
|
|
NM_003072.5(SMARCA4):c.570G>A (p.Leu190=)
|
rs2145778887
|
|
|
NM_003072.5(SMARCA4):c.570G>C (p.Leu190=)
|
rs2145778887
|
|
|
NM_003072.5(SMARCA4):c.571G>A (p.Ala191Thr)
|
rs759257627
|
|
|
NM_003072.5(SMARCA4):c.571G>T (p.Ala191Ser)
|
rs759257627
|
|
|
NM_003072.5(SMARCA4):c.572C>T (p.Ala191Val)
|
|
|
|
NM_003072.5(SMARCA4):c.574A>T (p.Arg192Trp)
|
rs2086035121
|
|
|
NM_003072.5(SMARCA4):c.574del (p.Arg192fs)
|
rs2145779070
|
|
|
NM_003072.5(SMARCA4):c.575G>A (p.Arg192Lys)
|
rs1599950890
|
|
|
NM_003072.5(SMARCA4):c.577G>A (p.Gly193Arg)
|
rs1568422547
|
|
|
NM_003072.5(SMARCA4):c.578G>A (p.Gly193Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.578G>T (p.Gly193Val)
|
rs767036812
|
|
|
NM_003072.5(SMARCA4):c.579G>T (p.Gly193=)
|
|
|
|
NM_003072.5(SMARCA4):c.579del (p.Gln194fs)
|
|
|
|
NM_003072.5(SMARCA4):c.57C>G (p.Gly19=)
|
rs778795986
|
|
|
NM_003072.5(SMARCA4):c.57C>T (p.Gly19=)
|
rs778795986
|
|
|
NM_003072.5(SMARCA4):c.580C>A (p.Gln194Lys)
|
rs1599950960
|
|
|
NM_003072.5(SMARCA4):c.581A>G (p.Gln194Arg)
|
rs760076866
|
|
|
NM_003072.5(SMARCA4):c.583C>G (p.Pro195Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.585C>A (p.Pro195=)
|
|
|
|
NM_003072.5(SMARCA4):c.585C>G (p.Pro195=)
|
rs1555753359
|
|
|
NM_003072.5(SMARCA4):c.585C>T (p.Pro195=)
|
rs1555753359
|
|
|
NM_003072.5(SMARCA4):c.586C>T (p.Leu196Phe)
|
rs1199851876
|
|
|
NM_003072.5(SMARCA4):c.589C>A (p.Pro197Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.590C>T (p.Pro197Leu)
|
rs988231473
|
|
|
NM_003072.5(SMARCA4):c.592G>A (p.Asp198Asn)
|
rs1195533596
|
|
|
NM_003072.5(SMARCA4):c.593A>G (p.Asp198Gly)
|
rs2086038072
|
|
|
NM_003072.5(SMARCA4):c.600G>T (p.Leu200=)
|
|
|
|
NM_003072.5(SMARCA4):c.603G>A (p.Gln201=)
|
rs1231936194
|
|
|
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val)
|
rs1599951271
|
|
|
NM_003072.5(SMARCA4):c.606G>A (p.Met202Ile)
|
rs2086039435
|
|
|
NM_003072.5(SMARCA4):c.607G>A (p.Ala203Thr)
|
rs2086039624
|
|
|
NM_003072.5(SMARCA4):c.609G>A (p.Ala203=)
|
rs752139419
|
|
|
NM_003072.5(SMARCA4):c.609G>C (p.Ala203=)
|
|
|
|
NM_003072.5(SMARCA4):c.609_610delinsAT (p.Val204Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.610G>A (p.Val204Met)
|
rs1599951334
|
|
|
NM_003072.5(SMARCA4):c.613C>G (p.Gln205Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.614A>C (p.Gln205Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.614A>G (p.Gln205Arg)
|
rs2086040527
|
|
|
NM_003072.5(SMARCA4):c.618C>G (p.Gly206=)
|
rs781758884
|
|
|
NM_003072.5(SMARCA4):c.626C>G (p.Pro209Arg)
|
rs778071122
|
|
|
NM_003072.5(SMARCA4):c.627G>T (p.Pro209=)
|
rs1388204648
|
|
|
NM_003072.5(SMARCA4):c.628A>C (p.Met210Leu)
|
rs2086042007
|
|
|
NM_003072.5(SMARCA4):c.628A>T (p.Met210Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.629T>A (p.Met210Lys)
|
rs749404527
|
|
|
NM_003072.5(SMARCA4):c.630G>A (p.Met210Ile)
|
rs1043452739
|
|
|
NM_003072.5(SMARCA4):c.630G>C (p.Met210Ile)
|
rs1043452739
|
|
|
NM_003072.5(SMARCA4):c.631C>G (p.Pro211Ala)
|
rs2145781120
|
|
|
NM_003072.5(SMARCA4):c.631C>T (p.Pro211Ser)
|
rs2145781120
|
|
|
NM_003072.5(SMARCA4):c.634G>A (p.Gly212Arg)
|
rs886937766
|
|
|
NM_003072.5(SMARCA4):c.636G>T (p.Gly212=)
|
|
|
|
NM_003072.5(SMARCA4):c.637A>G (p.Met213Val)
|
rs2145781361
|
|
|
NM_003072.5(SMARCA4):c.639G>A (p.Met213Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.63C>G (p.Gly21=)
|
|
|
|
NM_003072.5(SMARCA4):c.63C>T (p.Gly21=)
|
rs2145721906
|
|
|
NM_003072.5(SMARCA4):c.640CAG[2] (p.Gln216del)
|
rs2086043699
|
|
|
NM_003072.5(SMARCA4):c.642G>A (p.Gln214=)
|
rs1306328657
|
|
|
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter)
|
rs587777462
|
|
|
NM_003072.5(SMARCA4):c.648G>T (p.Gln216His)
|
|
|
|
NM_003072.5(SMARCA4):c.649A>G (p.Met217Val)
|
rs2145781758
|
|
|
NM_003072.5(SMARCA4):c.649A>T (p.Met217Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.64C>G (p.Pro22Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.64C>T (p.Pro22Ser)
|
rs2085807805
|
|
|
NM_003072.5(SMARCA4):c.652C>G (p.Pro218Ala)
|
rs1220576417
|
|
|
NM_003072.5(SMARCA4):c.652C>T (p.Pro218Ser)
|
rs1220576417
|
|
|
NM_003072.5(SMARCA4):c.657_661del (p.Leu220fs)
|
|
|
|
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro)
|
rs1057422480
|
|
|
NM_003072.5(SMARCA4):c.65C>A (p.Pro22His)
|
rs1227659334
|
|
|
NM_003072.5(SMARCA4):c.65C>G (p.Pro22Arg)
|
rs1227659334
|
|
|
NM_003072.5(SMARCA4):c.661C>T (p.Pro221Ser)
|
rs1417452362
|
|
|
NM_003072.5(SMARCA4):c.662C>A (p.Pro221His)
|
rs1599952032
|
|
|
NM_003072.5(SMARCA4):c.662C>T (p.Pro221Leu)
|
rs1599952032
|
|
|
NM_003072.5(SMARCA4):c.662del (p.Pro221fs)
|
rs1060502085
|
|
|
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.668C>T (p.Pro223Leu)
|
rs2145782523
|
|
|
NM_003072.5(SMARCA4):c.669C>T (p.Pro223=)
|
|
|
|
NM_003072.5(SMARCA4):c.66T>C (p.Pro22=)
|
rs2145722014
|
|
|
NM_003072.5(SMARCA4):c.671_696del (p.Ser224fs)
|
|
|
|
NM_003072.5(SMARCA4):c.672G>C (p.Ser224=)
|
|
|
|
NM_003072.5(SMARCA4):c.672G>T (p.Ser224=)
|
rs775288964
|
|
|
NM_003072.5(SMARCA4):c.674T>C (p.Val225Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.675G>A (p.Val225=)
|
rs1599952186
|
|
|
NM_003072.5(SMARCA4):c.677C>G (p.Ser226Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.678C>A (p.Ser226=)
|
rs878854237
|
|
|
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)
|
rs769096295
|
|
|
NM_003072.5(SMARCA4):c.680C>T (p.Ala227Val)
|
rs1599952268
|
|
|
NM_003072.5(SMARCA4):c.683C>A (p.Thr228Lys)
|
rs2145783138
|
|
|
NM_003072.5(SMARCA4):c.684_707dup (p.229GP[12])
|
rs754049390
|
|
|
NM_003072.5(SMARCA4):c.684_719del (p.229GP[2])
|
|
|
|
NM_003072.5(SMARCA4):c.684_731dup (p.Pro244_Ala245insGlyProGlyProGlyProGlyProGlyProGlyProGlyProGlyPro)
|
|
|
|
NM_003072.5(SMARCA4):c.686G>C (p.Gly229Ala)
|
rs2086048500
|
|
|
NM_003072.5(SMARCA4):c.688C>A (p.Pro230Thr)
|
rs760294422
|
|
|
NM_003072.5(SMARCA4):c.688C>T (p.Pro230Ser)
|
rs760294422
|
|
|
NM_003072.5(SMARCA4):c.68C>A (p.Ser23Tyr)
|
rs1555750712
|
|
|
NM_003072.5(SMARCA4):c.68C>G (p.Ser23Cys)
|
rs1555750712
|
|
|
NM_003072.5(SMARCA4):c.68C>T (p.Ser23Phe)
|
rs1555750712
|
|
|
NM_003072.5(SMARCA4):c.690C>G (p.Pro230=)
|
rs372941839
|
|
|
NM_003072.5(SMARCA4):c.691G>T (p.Gly231Cys)
|
rs555467836
|
|
|
NM_003072.5(SMARCA4):c.692G>T (p.Gly231Val)
|
|
|
|
NM_003072.5(SMARCA4):c.692_693insGCCTGG (p.229GP[9])
|
rs2145783521
|
|
|
NM_003072.5(SMARCA4):c.693C>T (p.Gly231=)
|
rs1382177428
|
|
|
NM_003072.5(SMARCA4):c.694C>T (p.Pro232Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.694_695insTTGGCC (p.Gly231_Pro232insLeuGly)
|
rs1555753619
|
|
|
NM_003072.5(SMARCA4):c.695C>G (p.Pro232Arg)
|
rs1314009255
|
|
|
NM_003072.5(SMARCA4):c.695_696insGGGCCC (p.229GP[9])
|
rs1555753627
|
|
|
NM_003072.5(SMARCA4):c.696T>C (p.Pro232=)
|
rs573767517
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[1] (p.229GP[6])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[2] (p.229GP[7])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[4] (p.229GP[9])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.696_719del (p.229GP[4])
|
rs1568423251
|
|
|
NM_003072.5(SMARCA4):c.696_719dup (p.229_230GP[12])
|
rs1568423251
|
|
|
NM_003072.5(SMARCA4):c.696_731del (p.229GP[2])
|
rs1599952392
|
|
|
NM_003072.5(SMARCA4):c.698G>A (p.Gly233Asp)
|
rs878854238
|
|
|
NM_003072.5(SMARCA4):c.698G>C (p.Gly233Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.698_699insACCTGG (p.229GP[9])
|
rs2086051201
|
|
|
NM_003072.5(SMARCA4):c.699C>T (p.Gly233=)
|
|
|
|
NM_003072.5(SMARCA4):c.699_722del (p.229GP[4])
|
rs1599952661
|
|
|
NM_003072.5(SMARCA4):c.69C>G (p.Ser23=)
|
rs772658698
|
|
|
NM_003072.5(SMARCA4):c.6C>T (p.Ser2=)
|
rs1555750570
|
|
|
NM_003072.5(SMARCA4):c.700C>T (p.Pro234Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.701C>G (p.Pro234Arg)
|
rs572494136
|
|
|
NM_003072.5(SMARCA4):c.701C>T (p.Pro234Leu)
|
rs572494136
|
|
|
NM_003072.5(SMARCA4):c.702T>G (p.Pro234=)
|
rs1060504447
|
|
|
NM_003072.5(SMARCA4):c.702_719dup (p.229GP[11])
|
rs2086051828
|
|
|
NM_003072.5(SMARCA4):c.702_725del (p.229GP[4])
|
|
|
|
NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)
|
rs1240479086
|
|
|
NM_003072.5(SMARCA4):c.705_707dup (p.Pro236dup)
|
rs2086054549
|
|
|
NM_003072.5(SMARCA4):c.706C>G (p.Pro236Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.707C>G (p.Pro236Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.707C>T (p.Pro236Leu)
|
rs1555753713
|
|
|
NM_003072.5(SMARCA4):c.708T>G (p.Pro236=)
|
|
|
|
NM_003072.5(SMARCA4):c.708_719del (p.229GP[6])
|
rs1555753680
|
|
|
NM_003072.5(SMARCA4):c.708_719dup (p.229GP[10])
|
rs1555753680
|
|
|
NM_003072.5(SMARCA4):c.708_731del (p.229_230GP[4])
|
rs1555753690
|
|
|
NM_003072.5(SMARCA4):c.708_731dup (p.229GP[12])
|
rs1555753690
|
|
|
NM_003072.5(SMARCA4):c.709G>A (p.Gly237Ser)
|
rs1555753727
|
|
|
NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala)
|
rs1060502057
|
|
|
NM_003072.5(SMARCA4):c.70C>T (p.Pro24Ser)
|
rs1060502057
|
|
|
NM_003072.5(SMARCA4):c.711C>A (p.Gly237=)
|
rs1380829783
|
|
|
NM_003072.5(SMARCA4):c.713C>T (p.Pro238Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.713_714inv (p.Pro238Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.714C>G (p.Pro238=)
|
rs995632376
|
|
|
NM_003072.5(SMARCA4):c.714_719del (p.229GP[7])
|
rs1555753732
|
|
|
NM_003072.5(SMARCA4):c.714_719dup (p.229GP[9])
|
rs1555753732
|
|
|
NM_003072.5(SMARCA4):c.714_731dup (p.229GP[11])
|
rs1568423542
|
|
|
NM_003072.5(SMARCA4):c.715G>A (p.Gly239Ser)
|
rs761515593
|
|
|
NM_003072.5(SMARCA4):c.715G>T (p.Gly239Cys)
|
rs761515593
|
|
|
NM_003072.5(SMARCA4):c.716G>T (p.Gly239Val)
|
rs1161508952
|
|
|
NM_003072.5(SMARCA4):c.717C>T (p.Gly239=)
|
rs878854239
|
|
|
NM_003072.5(SMARCA4):c.719_720insTGGCCCTGGCCCCGGCCCGGGTCCCGGCCC (p.229GP[13])
|
rs2086056046
|
|
|
NM_003072.5(SMARCA4):c.719del (p.Pro240fs)
|
|
|
|
NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg)
|
rs772230026
|
|
|
NM_003072.5(SMARCA4):c.720G>C (p.Pro240=)
|
rs1023059961
|
|
|
NM_003072.5(SMARCA4):c.720G>T (p.Pro240=)
|
rs1023059961
|
|
|
NM_003072.5(SMARCA4):c.721G>A (p.Gly241Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.721G>T (p.Gly241Cys)
|
rs1599953263
|
|
|
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])
|
rs568390760
|
|
|
NM_003072.5(SMARCA4):c.722_733dup (p.229GP[10])
|
rs568390760
|
|
|
NM_003072.5(SMARCA4):c.724C>T (p.Pro242Ser)
|
rs1555753773
|
|
|
NM_003072.5(SMARCA4):c.725C>T (p.Pro242Leu)
|
rs2145785202
|
|
|
NM_003072.5(SMARCA4):c.726_731dup (p.229_230GP[9])
|
rs2086059171
|
|
|
NM_003072.5(SMARCA4):c.729C>G (p.Gly243=)
|
rs1031885122
|
|
|
NM_003072.5(SMARCA4):c.729C>T (p.Gly243=)
|
rs1031885122
|
|
|
NM_003072.5(SMARCA4):c.72T>C (p.Pro24=)
|
rs780223957
|
|
|
NM_003072.5(SMARCA4):c.730C>T (p.Pro244Ser)
|
rs2145785383
|
|
|
NM_003072.5(SMARCA4):c.731C>G (p.Pro244Arg)
|
rs587778683
|
|
|
NM_003072.5(SMARCA4):c.733G>A (p.Ala245Thr)
|
rs2086060359
|
|
|
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
|
|
|
|
NM_003072.5(SMARCA4):c.735A>C (p.Ala245=)
|
rs1555753798
|
|
|
NM_003072.5(SMARCA4):c.736C>A (p.Pro246Thr)
|
rs1555753804
|
|
|
NM_003072.5(SMARCA4):c.736C>T (p.Pro246Ser)
|
rs1555753804
|
|
|
NM_003072.5(SMARCA4):c.737_738insCGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACC (p.Pro246_Pro247insGlyProGlyProGlyProGlyProGlyProGlyProAlaPro)
|
|
|
|
NM_003072.5(SMARCA4):c.739C>A (p.Pro247Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.739C>T (p.Pro247Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.73G>A (p.Gly25Arg)
|
rs1568416887
|
|
|
NM_003072.5(SMARCA4):c.741A>G (p.Pro247=)
|
rs1599953494
|
|
|
NM_003072.5(SMARCA4):c.742A>G (p.Asn248Asp)
|
rs1599953506
|
|
|
NM_003072.5(SMARCA4):c.743A>G (p.Asn248Ser)
|
rs1568423807
|
|
|
NM_003072.5(SMARCA4):c.746A>G (p.Tyr249Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.749G>A (p.Ser250Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.74_76del (p.Gly25del)
|
rs1568416902
|
|
|
NM_003072.5(SMARCA4):c.750C>T (p.Ser250=)
|
rs1242616857
|
|
|
NM_003072.5(SMARCA4):c.752G>C (p.Arg251Thr)
|
rs1599953658
|
|
|
NM_003072.5(SMARCA4):c.753G>A (p.Arg251=)
|
rs2145786174
|
|
|
NM_003072.5(SMARCA4):c.753G>T (p.Arg251Ser)
|
rs2145786174
|
|
|
NM_003072.5(SMARCA4):c.758A>G (p.His253Arg)
|
rs2086063382
|
|
|
NM_003072.5(SMARCA4):c.75A>C (p.Gly25=)
|
|
|
|
NM_003072.5(SMARCA4):c.75A>T (p.Gly25=)
|
rs2145722351
|
|
|
NM_003072.5(SMARCA4):c.760+10G>C
|
rs2145786867
|
|
|
NM_003072.5(SMARCA4):c.760+10del
|
|
|
|
NM_003072.5(SMARCA4):c.760+11C>T
|
|
|
|
NM_003072.5(SMARCA4):c.760+12T>C
|
|
|
|
NM_003072.5(SMARCA4):c.760+13G>A
|
|
|
|
NM_003072.5(SMARCA4):c.760+13del
|
|
|
|
NM_003072.5(SMARCA4):c.760+16C>G
|
|
|
|
NM_003072.5(SMARCA4):c.760+16del
|
rs1181650530
|
|
|
NM_003072.5(SMARCA4):c.760+17T>C
|
|
|
|
NM_003072.5(SMARCA4):c.760+18G>A
|
|
|
|
NM_003072.5(SMARCA4):c.760+18G>T
|
|
|
|
NM_003072.5(SMARCA4):c.760+18_760+23del
|
|
|
|
NM_003072.5(SMARCA4):c.760+20C>A
|
|
|
|
NM_003072.5(SMARCA4):c.760+4A>G
|
rs1213865421
|
|
|
NM_003072.5(SMARCA4):c.760+6A>G
|
|
|
|
NM_003072.5(SMARCA4):c.760+7C>T
|
|
|
|
NM_003072.5(SMARCA4):c.760+8T>C
|
|
|
|
NM_003072.5(SMARCA4):c.760+8T>G
|
|
|
|
NM_003072.5(SMARCA4):c.760+9G>C
|
rs2145786781
|
|
|
NM_003072.5(SMARCA4):c.760G>A (p.Gly254Ser)
|
rs1060502071
|
|
|
NM_003072.5(SMARCA4):c.761-10C>T
|
rs1555754102
|
|
|
NM_003072.5(SMARCA4):c.761-11C>T
|
rs2145794545
|
|
|
NM_003072.5(SMARCA4):c.761-12C>T
|
rs2145794482
|
|
|
NM_003072.5(SMARCA4):c.761-14C>T
|
rs1555754096
|
|
|
NM_003072.5(SMARCA4):c.761-15del
|
|
|
|
NM_003072.5(SMARCA4):c.761-19T>C
|
|
|
|
NM_003072.5(SMARCA4):c.761-19T>G
|
|
|
|
NM_003072.5(SMARCA4):c.761-2A>T
|
rs1479379455
|
|
|
NM_003072.5(SMARCA4):c.761-3T>C
|
|
|
|
NM_003072.5(SMARCA4):c.761-3T>G
|
rs1555754119
|
|
|
NM_003072.5(SMARCA4):c.761-6A>C
|
rs772994811
|
|
|
NM_003072.5(SMARCA4):c.761-6A>G
|
rs772994811
|
|
|
NM_003072.5(SMARCA4):c.761-7C>T
|
rs765020699
|
|
|
NM_003072.5(SMARCA4):c.761-8A>G
|
rs1176344302
|
|
|
NM_003072.5(SMARCA4):c.761-9T>C
|
rs1555754107
|
|
|
NM_003072.5(SMARCA4):c.761G>T (p.Gly254Val)
|
|
|
|
NM_003072.5(SMARCA4):c.765G>A (p.Met255Ile)
|
rs2145795052
|
|
|
NM_003072.5(SMARCA4):c.767G>A (p.Gly256Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.768A>C (p.Gly256=)
|
rs1599957054
|
|
|
NM_003072.5(SMARCA4):c.770G>A (p.Gly257Glu)
|
rs1343719999
|
|
|
NM_003072.5(SMARCA4):c.770G>T (p.Gly257Val)
|
|
|
|
NM_003072.5(SMARCA4):c.771G>A (p.Gly257=)
|
|
|
|
NM_003072.5(SMARCA4):c.771G>T (p.Gly257=)
|
|
|
|
NM_003072.5(SMARCA4):c.772C>G (p.Pro258Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.773C>T (p.Pro258Leu)
|
rs756531500
|
|
|
NM_003072.5(SMARCA4):c.775A>C (p.Asn259His)
|
rs764641221
|
|
|
NM_003072.5(SMARCA4):c.777C>T (p.Asn259=)
|
rs1599957179
|
|
|
NM_003072.5(SMARCA4):c.778A>G (p.Met260Val)
|
rs1064795842
|
|
|
NM_003072.5(SMARCA4):c.77C>T (p.Ala26Val)
|
rs1599928845
|
|
|
NM_003072.5(SMARCA4):c.780G>A (p.Met260Ile)
|
rs753962571
|
|
|
NM_003072.5(SMARCA4):c.781C>T (p.Pro261Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.782C>A (p.Pro261His)
|
rs757327891
|
|
|
NM_003072.5(SMARCA4):c.782C>T (p.Pro261Leu)
|
rs757327891
|
|
|
NM_003072.5(SMARCA4):c.786C>T (p.Pro262=)
|
|
|
|
NM_003072.5(SMARCA4):c.788dup (p.Gly264fs)
|
rs1555754177
|
|
|
NM_003072.5(SMARCA4):c.789A>G (p.Pro263=)
|
rs1599957400
|
|
|
NM_003072.5(SMARCA4):c.78C>A (p.Ala26=)
|
|
|
|
NM_003072.5(SMARCA4):c.78C>T (p.Ala26=)
|
|
|
|
NM_003072.5(SMARCA4):c.790G>A (p.Gly264Arg)
|
rs746036083
|
|
|
NM_003072.5(SMARCA4):c.791G>A (p.Gly264Glu)
|
rs797045988
|
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
|
NM_003072.5(SMARCA4):c.791G>T (p.Gly264Val)
|
rs797045988
|
|
|
NM_003072.5(SMARCA4):c.792_812dup (p.Gly271_Met272insProSerGlyValProProGly)
|
|
|
|
NM_003072.5(SMARCA4):c.793C>T (p.Pro265Ser)
|
rs2145796084
|
|
|
NM_003072.5(SMARCA4):c.794C>A (p.Pro265His)
|
|
|
|
NM_003072.5(SMARCA4):c.794C>T (p.Pro265Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.795C>G (p.Pro265=)
|
|
|
|
NM_003072.5(SMARCA4):c.797C>G (p.Ser266Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.798G>A (p.Ser266=)
|
rs1166644954
|
|
|
NM_003072.5(SMARCA4):c.799G>A (p.Gly267Ser)
|
rs2086105423
|
|
|
NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro)
|
rs1599927930
|
|
|
NM_003072.5(SMARCA4):c.7A>G (p.Thr3Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp)
|
rs746986969
|
|
|
NM_003072.5(SMARCA4):c.800G>T (p.Gly267Val)
|
|
|
|
NM_003072.5(SMARCA4):c.803T>C (p.Val268Ala)
|
rs1568424854
|
|
|
NM_003072.5(SMARCA4):c.803T>G (p.Val268Gly)
|
rs1568424854
|
|
|
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del)
|
rs1555754225
|
|
|
NM_003072.5(SMARCA4):c.804G>T (p.Val268=)
|
|
|
|
NM_003072.5(SMARCA4):c.806C>T (p.Pro269Leu)
|
rs2145796622
|
|
|
NM_003072.5(SMARCA4):c.807C>G (p.Pro269=)
|
rs1404558986
|
|
|
NM_003072.5(SMARCA4):c.808C>G (p.Pro270Ala)
|
rs1599957743
|
|
|
NM_003072.5(SMARCA4):c.808C>T (p.Pro270Ser)
|
rs1599957743
|
|
|
NM_003072.5(SMARCA4):c.809C>G (p.Pro270Arg)
|
rs1568424897
|
|
|
NM_003072.5(SMARCA4):c.809C>T (p.Pro270Leu)
|
rs1568424897
|
|
|
NM_003072.5(SMARCA4):c.80T>C (p.Met27Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.810C>A (p.Pro270=)
|
rs375413993
|
|
|
NM_003072.5(SMARCA4):c.810del (p.Met272fs)
|
|
|
|
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
|
|
|
|
NM_003072.5(SMARCA4):c.811G>C (p.Gly271Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.812G>A (p.Gly271Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.812G>C (p.Gly271Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.812G>T (p.Gly271Val)
|
|
|
|
NM_003072.5(SMARCA4):c.813G>A (p.Gly271=)
|
|
|
|
NM_003072.5(SMARCA4):c.814A>G (p.Met272Val)
|
rs1432832082
|
|
|
NM_003072.5(SMARCA4):c.820G>C (p.Gly274Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.823C>T (p.Gln275Ter)
|
rs1555754293
|
|
|
NM_003072.5(SMARCA4):c.826C>A (p.Pro276Thr)
|
rs1238171014
|
|
|
NM_003072.5(SMARCA4):c.826C>T (p.Pro276Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.827C>T (p.Pro276Leu)
|
rs2145797391
|
|
|
NM_003072.5(SMARCA4):c.82C>A (p.Leu28Met)
|
rs776688705
|
|
|
NM_003072.5(SMARCA4):c.830C>T (p.Pro277Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.831T>G (p.Pro277=)
|
|
|
|
NM_003072.5(SMARCA4):c.836G>T (p.Gly279Val)
|
|
|
|
NM_003072.5(SMARCA4):c.837G>A (p.Gly279=)
|
rs878854242
|
|
|
NM_003072.5(SMARCA4):c.837G>T (p.Gly279=)
|
rs878854242
|
|
|
NM_003072.5(SMARCA4):c.838C>G (p.Pro280Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.83_94del (p.Leu28_Ser31del)
|
rs2145722640
|
|
|
NM_003072.5(SMARCA4):c.841C>T (p.Pro281Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.842C>T (p.Pro281Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.843C>T (p.Pro281=)
|
rs1221243562
|
|
|
NM_003072.5(SMARCA4):c.846G>T (p.Lys282Asn)
|
rs1263337559
|
|
|
NM_003072.5(SMARCA4):c.848C>T (p.Pro283Leu)
|
rs1568425141
|
|
|
NM_003072.5(SMARCA4):c.849C>T (p.Pro283=)
|
rs2145798022
|
|
|
NM_003072.5(SMARCA4):c.84G>A (p.Leu28=)
|
|
|
|
NM_003072.5(SMARCA4):c.853C>A (p.Pro285Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.853C>T (p.Pro285Ser)
|
rs763957291
|
|
|
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.856G>A (p.Glu286Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.858A>G (p.Glu286=)
|
|
|
|
NM_003072.5(SMARCA4):c.858A>T (p.Glu286Asp)
|
rs2145798320
|
|
|
NM_003072.5(SMARCA4):c.859+10C>G
|
rs1060504457
|
|
|
NM_003072.5(SMARCA4):c.859+10C>T
|
rs1060504457
|
|
|
NM_003072.5(SMARCA4):c.859+10dup
|
|
|
|
NM_003072.5(SMARCA4):c.859+11T>C
|
|
|
|
NM_003072.5(SMARCA4):c.859+12C>G
|
|
|
|
NM_003072.5(SMARCA4):c.859+13T>C
|
|
|
|
NM_003072.5(SMARCA4):c.859+15C>T
|
|
|
|
NM_003072.5(SMARCA4):c.859+18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.859+1G>T
|
rs2145798387
|
|
|
NM_003072.5(SMARCA4):c.859+20G>C
|
rs2145799264
|
|
|
NM_003072.5(SMARCA4):c.859+3G>A
|
rs1599958336
|
|
|
NM_003072.5(SMARCA4):c.859+5G>C
|
|
|
|
NM_003072.5(SMARCA4):c.859+6C>G
|
|
|
|
NM_003072.5(SMARCA4):c.859+6C>T
|
rs1185878570
|
|
|
NM_003072.5(SMARCA4):c.859+8C>T
|
rs2145798711
|
|
|
NM_003072.5(SMARCA4):c.859G>C (p.Gly287Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.860-10C>G
|
|
|
|
NM_003072.5(SMARCA4):c.860-10C>T
|
rs777131262
|
|
|
NM_003072.5(SMARCA4):c.860-11C>A
|
rs2086174389
|
|
|
NM_003072.5(SMARCA4):c.860-11C>T
|
rs2086174389
|
|
|
NM_003072.5(SMARCA4):c.860-15C>T
|
rs2145812610
|
|
|
NM_003072.5(SMARCA4):c.860-17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.860-19G>A
|
rs779390573
|
|
|
NM_003072.5(SMARCA4):c.860-20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.860-20G>C
|
|
|
|
NM_003072.5(SMARCA4):c.860-3C>T
|
rs1158136597
|
|
|
NM_003072.5(SMARCA4):c.860-4C>G
|
|
|
|
NM_003072.5(SMARCA4):c.860-4C>T
|
rs1555754744
|
|
|
NM_003072.5(SMARCA4):c.860-6T>C
|
rs2145813085
|
|
|
NM_003072.5(SMARCA4):c.860G>A (p.Gly287Glu)
|
rs2086175577
|
|
|
NM_003072.5(SMARCA4):c.861A>G (p.Gly287=)
|
|
|
|
NM_003072.5(SMARCA4):c.862C>G (p.Pro288Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser)
|
rs199573401
|
|
|
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu)
|
rs1026742588
|
|
|
NM_003072.5(SMARCA4):c.864C>G (p.Pro288=)
|
rs1555754759
|
|
|
NM_003072.5(SMARCA4):c.864C>T (p.Pro288=)
|
rs1555754759
|
|
|
NM_003072.5(SMARCA4):c.865A>T (p.Met289Leu)
|
rs750547893
|
|
|
NM_003072.5(SMARCA4):c.866T>C (p.Met289Thr)
|
rs878854243
|
|
|
NM_003072.5(SMARCA4):c.866T>G (p.Met289Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.867G>T (p.Met289Ile)
|
rs1338574365
|
|
|
NM_003072.5(SMARCA4):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.868del (p.Ala290fs)
|
|
|
|
NM_003072.5(SMARCA4):c.86G>A (p.Gly29Asp)
|
rs2145722799
|
|
|
NM_003072.5(SMARCA4):c.86G>T (p.Gly29Val)
|
|
|
|
NM_003072.5(SMARCA4):c.870del (p.Asn291fs)
|
|
|
|
NM_003072.5(SMARCA4):c.871A>G (p.Asn291Asp)
|
rs1555754777
|
|
|
NM_003072.5(SMARCA4):c.872A>G (p.Asn291Ser)
|
rs751791309
|
|
|
NM_003072.5(SMARCA4):c.874G>A (p.Ala292Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.875C>G (p.Ala292Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.876T>A (p.Ala292=)
|
rs1599965966
|
|
|
NM_003072.5(SMARCA4):c.876T>C (p.Ala292=)
|
|
|
|
NM_003072.5(SMARCA4):c.877G>A (p.Ala293Thr)
|
rs754742854
|
|
|
NM_003072.5(SMARCA4):c.87C>A (p.Gly29=)
|
rs1330706074
|
|
|
NM_003072.5(SMARCA4):c.87C>T (p.Gly29=)
|
|
|
|
NM_003072.5(SMARCA4):c.87_222+48del
|
rs2145722767
|
|
|
NM_003072.5(SMARCA4):c.880G>T (p.Ala294Ser)
|
rs1599966074
|
|
|
NM_003072.5(SMARCA4):c.881C>T (p.Ala294Val)
|
|
|
|
NM_003072.5(SMARCA4):c.882C>A (p.Ala294=)
|
|
|
|
NM_003072.5(SMARCA4):c.882C>G (p.Ala294=)
|
|
|
|
NM_003072.5(SMARCA4):c.883C>G (p.Pro295Ala)
|
rs970190031
|
|
|
NM_003072.5(SMARCA4):c.884C>A (p.Pro295His)
|
|
|
|
NM_003072.5(SMARCA4):c.884C>T (p.Pro295Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.885C>A (p.Pro295=)
|
rs1060504429
|
|
|
NM_003072.5(SMARCA4):c.885C>G (p.Pro295=)
|
rs1060504429
|
|
|
NM_003072.5(SMARCA4):c.885C>T (p.Pro295=)
|
rs1060504429
|
|
|
NM_003072.5(SMARCA4):c.88C>G (p.Pro30Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.88C>T (p.Pro30Ser)
|
rs1599928968
|
|
|
NM_003072.5(SMARCA4):c.891C>A (p.Ser297Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.892A>G (p.Thr298Ala)
|
rs878854244
|
|
|
NM_003072.5(SMARCA4):c.892A>T (p.Thr298Ser)
|
rs878854244
|
|
|
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile)
|
rs748459210
|
|
|
NM_003072.5(SMARCA4):c.895C>T (p.Pro299Ser)
|
rs2086180113
|
|
|
NM_003072.5(SMARCA4):c.896C>A (p.Pro299His)
|
|
|
|
NM_003072.5(SMARCA4):c.896C>T (p.Pro299Leu)
|
rs770464856
|
|
|
NM_003072.5(SMARCA4):c.89C>G (p.Pro30Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.8C>A (p.Thr3Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.8C>T (p.Thr3Ile)
|
rs1339941779
|
|
|
NM_003072.5(SMARCA4):c.903G>A (p.Lys301=)
|
rs1599966511
|
|
|
NM_003072.5(SMARCA4):c.904C>A (p.Leu302Met)
|
|
|
|
NM_003072.5(SMARCA4):c.906G>C (p.Leu302=)
|
|
|
|
NM_003072.5(SMARCA4):c.907A>G (p.Ile303Val)
|
|
|
|
NM_003072.5(SMARCA4):c.90T>C (p.Pro30=)
|
|
|
|
NM_003072.5(SMARCA4):c.910C>A (p.Pro304Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.910C>G (p.Pro304Ala)
|
rs745462998
|
|
|
NM_003072.5(SMARCA4):c.910C>T (p.Pro304Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.911C>A (p.Pro304His)
|
rs2086181376
|
|
|
NM_003072.5(SMARCA4):c.914C>G (p.Pro305Arg)
|
rs138097741
|
|
|
NM_003072.5(SMARCA4):c.915G>T (p.Pro305=)
|
rs149573400
|
|
|
NM_003072.5(SMARCA4):c.915_916delinsCA (p.Gln306Lys)
|
rs1568426539
|
|
|
NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter)
|
rs2086182638
|
|
|
NM_003072.5(SMARCA4):c.917_941del (p.Gln306fs)
|
rs2145815261
|
|
|
NM_003072.5(SMARCA4):c.918G>A (p.Gln306=)
|
rs1195074995
|
|
|
NM_003072.5(SMARCA4):c.918G>C (p.Gln306His)
|
|
|
|
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu)
|
rs762139955
|
|
|
NM_003072.5(SMARCA4):c.921A>G (p.Pro307=)
|
rs1599967076
|
|
|
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met)
|
rs770322996
|
|
|
NM_003072.5(SMARCA4):c.924G>A (p.Thr308=)
|
rs944736912
|
|
|
NM_003072.5(SMARCA4):c.924G>C (p.Thr308=)
|
rs944736912
|
|
|
NM_003072.5(SMARCA4):c.925G>T (p.Gly309Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.927C>T (p.Gly309=)
|
rs1345596891
|
|
|
NM_003072.5(SMARCA4):c.928C>T (p.Arg310Cys)
|
rs1555754899
|
|
|
NM_003072.5(SMARCA4):c.929G>C (p.Arg310Pro)
|
rs766422429
|
|
|
NM_003072.5(SMARCA4):c.930C>G (p.Arg310=)
|
rs146141457
|
|
|
NM_003072.5(SMARCA4):c.930C>T (p.Arg310=)
|
rs146141457
|
|
|
NM_003072.5(SMARCA4):c.931C>T (p.Pro311Ser)
|
rs1323531288
|
|
|
NM_003072.5(SMARCA4):c.932C>T (p.Pro311Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.933T>A (p.Pro311=)
|
rs1599967587
|
|
|
NM_003072.5(SMARCA4):c.933T>C (p.Pro311=)
|
rs1599967587
|
|
|
NM_003072.5(SMARCA4):c.933T>G (p.Pro311=)
|
|
|
|
NM_003072.5(SMARCA4):c.935C>A (p.Ser312Tyr)
|
rs767826277
|
|
|
NM_003072.5(SMARCA4):c.936C>A (p.Ser312=)
|
rs1337803779
|
|
|
NM_003072.5(SMARCA4):c.936C>T (p.Ser312=)
|
rs1337803779
|
|
|
NM_003072.5(SMARCA4):c.937C>G (p.Pro313Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.938C>T (p.Pro313Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.939C>G (p.Pro313=)
|
rs755971351
|
|
|
NM_003072.5(SMARCA4):c.940G>C (p.Ala314Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.940_941delinsTT (p.Ala314Leu)
|
rs2145816680
|
|
|
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=)
|
rs567283924
|
|
|
NM_003072.5(SMARCA4):c.942G>T (p.Ala314=)
|
rs567283924
|
|
|
NM_003072.5(SMARCA4):c.944C>A (p.Pro315His)
|
|
|
|
NM_003072.5(SMARCA4):c.944C>T (p.Pro315Leu)
|
rs1170997392
|
|
|
NM_003072.5(SMARCA4):c.945C>T (p.Pro315=)
|
rs1374615306
|
|
|
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)
|
rs1599968129
|
|
|
NM_003072.5(SMARCA4):c.949G>A (p.Ala317Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.950_951delinsTT (p.Ala317Val)
|
|
|
|
NM_003072.5(SMARCA4):c.951C>A (p.Ala317=)
|
rs377511733
|
|
|
NM_003072.5(SMARCA4):c.954C>T (p.Val318=)
|
rs1060504436
|
|
|
NM_003072.5(SMARCA4):c.955C>T (p.Pro319Ser)
|
rs1555755005
|
|
|
NM_003072.5(SMARCA4):c.959C>T (p.Pro320Leu)
|
rs1060502062
|
|
|
NM_003072.5(SMARCA4):c.95C>G (p.Pro32Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.960C>A (p.Pro320=)
|
|
|
|
NM_003072.5(SMARCA4):c.960C>G (p.Pro320=)
|
rs531365419
|
|
|
NM_003072.5(SMARCA4):c.960_961delinsAA (p.Ala321Thr)
|
rs2145817552
|
|
|
NM_003072.5(SMARCA4):c.962_973dup (p.Pro324_Val325insAlaAlaSerPro)
|
|
|
|
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=)
|
rs371214843
|
|
|
NM_003072.5(SMARCA4):c.964G>A (p.Ala322Thr)
|
rs1060502089
|
|
|
NM_003072.5(SMARCA4):c.964G>T (p.Ala322Ser)
|
rs1060502089
|
|
|
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu)
|
rs886054151
|
|
|
NM_003072.5(SMARCA4):c.969G>C (p.Ser323=)
|
rs770128715
|
|
|
NM_003072.5(SMARCA4):c.969G>T (p.Ser323=)
|
rs770128715
|
|
|
NM_003072.5(SMARCA4):c.96G>C (p.Pro32=)
|
rs761597013
|
|
|
NM_003072.5(SMARCA4):c.96G>T (p.Pro32=)
|
rs761597013
|
|
|
NM_003072.5(SMARCA4):c.970C>T (p.Pro324Ser)
|
rs926054421
|
|
|
NM_003072.5(SMARCA4):c.973G>C (p.Val325Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.976A>G (p.Met326Val)
|
|
|
|
NM_003072.5(SMARCA4):c.976A>T (p.Met326Leu)
|
rs1599968988
|
|
|
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile)
|
rs1568426962
|
|
|
NM_003072.5(SMARCA4):c.978G>C (p.Met326Ile)
|
rs1568426962
|
|
|
NM_003072.5(SMARCA4):c.979C>G (p.Pro327Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.979C>T (p.Pro327Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.97G>A (p.Gly33Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.980C>T (p.Pro327Leu)
|
rs1236526844
|
|
|
NM_003072.5(SMARCA4):c.981A>G (p.Pro327=)
|
rs547268941
|
|
|
NM_003072.5(SMARCA4):c.982_986del (p.Pro328fs)
|
rs1555755067
|
|
|
NM_003072.5(SMARCA4):c.983C>A (p.Pro328Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.987G>A (p.Gln329=)
|
rs1187772743
|
|
|
NM_003072.5(SMARCA4):c.987G>C (p.Gln329His)
|
|
|
|
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile)
|
rs1555755082
|
|
|
NM_003072.5(SMARCA4):c.990C>G (p.Thr330=)
|
|
|
|
NM_003072.5(SMARCA4):c.990C>T (p.Thr330=)
|
|
|
|
NM_003072.5(SMARCA4):c.995C>A (p.Ser332Tyr)
|
rs1013942482
|
|
|
NM_003072.5(SMARCA4):c.995C>G (p.Ser332Cys)
|
rs1013942482
|
|
|
NM_003072.5(SMARCA4):c.995C>T (p.Ser332Phe)
|
rs1013942482
|
|
|
NM_003072.5(SMARCA4):c.996C>A (p.Ser332=)
|
|
|
|
NM_003072.5(SMARCA4):c.996C>G (p.Ser332=)
|
rs2145818726
|
|
|
NM_003072.5(SMARCA4):c.997C>T (p.Pro333Ser)
|
rs1599969686
|
|
|
NM_003072.5(SMARCA4):c.99T>G (p.Gly33=)
|
|
|
|
NM_003073.4(SMARCB1):c.-207-?_*338dup1703
|
|
|
|
NM_003073.4(SMARCB1):c.987-?_*338dup510
|
|
|
|
NM_003073.5(SMARCB1):c.*100C>G
|
rs1363655817
|
|
|
NM_003073.5(SMARCB1):c.*116dup
|
rs397897183
|
|
|
NM_003073.5(SMARCB1):c.*12_*14dup
|
rs779825754
|
|
|
NM_003073.5(SMARCB1):c.*197A>C
|
rs1306414841
|
|
|
NM_003073.5(SMARCB1):c.*307A>G
|
rs2030874248
|
|
|
NM_003073.5(SMARCB1):c.-107A>G
|
rs886057284
|
|
|
NM_003073.5(SMARCB1):c.-157G>A
|
rs886057281
|
|
|
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val)
|
rs1231539032
|
|
|
NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs)
|
rs2030790572
|
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
|
NM_003073.5(SMARCB1):c.1102C>T (p.Gln368Ter)
|
|
|
|
NM_003073.5(SMARCB1):c.1118+8T>C
|
rs2030796889
|
|
|
NM_003073.5(SMARCB1):c.1144G>A (p.Ala382Thr)
|
|
|
|
NM_003073.5(SMARCB1):c.1148del (p.Pro383fs)
|
rs2146045204
|
|
|
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met)
|
rs922052006
|
|
|
NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter)
|
rs1555875917
|
|
|
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)
|
rs769579890
|
|
|
NM_003073.5(SMARCB1):c.232+59A>G
|
|
|
|
NM_003073.5(SMARCB1):c.232+5G>A
|
rs1555875932
|
|
|
NM_003073.5(SMARCB1):c.26C>G (p.Thr9Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala)
|
rs1601391157
|
|
|
NM_003073.5(SMARCB1):c.40_46dup (p.Lys16fs)
|
|
|
|
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)
|
rs2145978723
|
|
|
NM_003073.5(SMARCB1):c.510C>A (p.Asp170Glu)
|
|
|
|
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)
|
|
|
|
NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)
|
|
|
|
NM_003073.5(SMARCB1):c.591del (p.Gln198fs)
|
rs587776678
|
|
|
NM_003073.5(SMARCB1):c.597G>C (p.Lys199Asn)
|
|
|
|
NM_003073.5(SMARCB1):c.629-361_795+2103dup
|
|
|
|
NM_003073.5(SMARCB1):c.632A>G (p.Lys211Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)
|
rs1930218305
|
|
|
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg)
|
rs780906523
|
|
|
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr)
|
rs768379745
|
|
|
NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)
|
|
|
|
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)
|
rs752910574
|
|
|
NM_003073.5(SMARCB1):c.795+5G>A
|
rs199902957
|
|
|
NM_003073.5(SMARCB1):c.795+9C>T
|
rs1007579645
|
|
|
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu)
|
rs762676176
|
|
|
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val)
|
rs762676176
|
|
|
NM_003073.5(SMARCB1):c.812del (p.Gly271fs)
|
rs1601433318
|
|
|
NM_003073.5(SMARCB1):c.93+374A>G
|
|
|
|
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys)
|
rs1265308124
|
|
|
NM_003073.5(SMARCB1):c.986+1G>A
|
rs112038099
|
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|
|
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=)
|
rs773720929
|
|
|
NM_003242.6(TGFBR2):c.1667A>G (p.Lys556Arg)
|
rs2125455732
|
|
|
NM_003640.5(ELP1):c.-55-2A>G
|
|
|
|
NM_003640.5(ELP1):c.1034A>G (p.Lys345Arg)
|
rs772819713
|
|
|
NM_003640.5(ELP1):c.104T>C (p.Ile35Thr)
|
|
|
|
NM_003640.5(ELP1):c.1054G>A (p.Asp352Asn)
|
|
|
|
NM_003640.5(ELP1):c.1079A>G (p.His360Arg)
|
|
|
|
NM_003640.5(ELP1):c.1088G>T (p.Cys363Phe)
|
|
|
|
NM_003640.5(ELP1):c.1099C>T (p.His367Tyr)
|
|
|
|
NM_003640.5(ELP1):c.1129A>G (p.Thr377Ala)
|
|
|
|
NM_003640.5(ELP1):c.1139G>C (p.Ser380Thr)
|
rs749865081
|
|
|
NM_003640.5(ELP1):c.1142_1143dup (p.Gly382fs)
|
|
|
|
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)
|
rs774890086
|
|
|
NM_003640.5(ELP1):c.116A>G (p.His39Arg)
|
rs2132052820
|
|
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs571143526
|
|
|
NM_003640.5(ELP1):c.1186_1187delinsTT (p.Gly396Leu)
|
|
|
|
NM_003640.5(ELP1):c.1187dup (p.Asn397fs)
|
|
|
|
NM_003640.5(ELP1):c.1189+13G>T
|
|
|
|
NM_003640.5(ELP1):c.1189+15A>G
|
|
|
|
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
|
|
|
|
NM_003640.5(ELP1):c.1222_1223insAA (p.Val408fs)
|
|
|
|
NM_003640.5(ELP1):c.1223_1224del (p.Val408fs)
|
|
|
|
NM_003640.5(ELP1):c.1237A>T (p.Met413Leu)
|
|
|
|
NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)
|
|
|
|
NM_003640.5(ELP1):c.1269dup (p.Val424fs)
|
rs2132013817
|
|
|
NM_003640.5(ELP1):c.1307G>A (p.Ser436Asn)
|
|
|
|
NM_003640.5(ELP1):c.1330G>A (p.Ala444Thr)
|
|
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
|
NM_003640.5(ELP1):c.1406del (p.Gly469fs)
|
|
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
|
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
|
|
|
|
NM_003640.5(ELP1):c.1461-13A>G
|
|
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
|
NM_003640.5(ELP1):c.1486C>G (p.Gln496Glu)
|
|
|
|
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
|
|
|
|
NM_003640.5(ELP1):c.1510G>A (p.Gly504Ser)
|
|
|
|
NM_003640.5(ELP1):c.1516C>T (p.Leu506Phe)
|
|
|
|
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
|
|
|
|
NM_003640.5(ELP1):c.1606T>C (p.Ser536Pro)
|
|
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
|
NM_003640.5(ELP1):c.1644-13dup
|
rs756059162
|
|
|
NM_003640.5(ELP1):c.1645T>C (p.Ser549Pro)
|
|
|
|
NM_003640.5(ELP1):c.1649C>T (p.Ser550Phe)
|
|
|
|
NM_003640.5(ELP1):c.1655C>T (p.Ala552Val)
|
|
|
|
NM_003640.5(ELP1):c.1709T>C (p.Val570Ala)
|
|
|
|
NM_003640.5(ELP1):c.1718T>A (p.Leu573Gln)
|
|
|
|
NM_003640.5(ELP1):c.1727G>A (p.Gly576Asp)
|
|
|
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309
|
|
|
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)
|
rs199555804
|
|
|
NM_003640.5(ELP1):c.1749G>A (p.Trp583Ter)
|
|
|
|
NM_003640.5(ELP1):c.1751-14T>C
|
|
|
|
NM_003640.5(ELP1):c.1751-2A>G
|
|
|
|
NM_003640.5(ELP1):c.1751_1752del
|
|
|
|
NM_003640.5(ELP1):c.1775C>T (p.Pro592Leu)
|
|
|
|
NM_003640.5(ELP1):c.1819T>G (p.Cys607Gly)
|
|
|
|
NM_003640.5(ELP1):c.1846G>A (p.Gly616Arg)
|
|
|
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934
|
|
|
NM_003640.5(ELP1):c.1855-1G>C
|
|
|
|
NM_003640.5(ELP1):c.1856A>G (p.Glu619Gly)
|
|
|
|
NM_003640.5(ELP1):c.1875_1876insTT (p.Asp626fs)
|
|
|
|
NM_003640.5(ELP1):c.1909-1G>T
|
|
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
|
NM_003640.5(ELP1):c.1969del (p.Ser657fs)
|
|
|
|
NM_003640.5(ELP1):c.2020C>T (p.Gln674Ter)
|
rs2131988821
|
|
|
NM_003640.5(ELP1):c.2052T>A (p.His684Gln)
|
rs1321906641
|
|
|
NM_003640.5(ELP1):c.2059G>A (p.Val687Ile)
|
|
|
|
NM_003640.5(ELP1):c.2062C>A (p.Leu688Met)
|
|
|
|
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
|
|
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
|
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)
|
rs1828721515
|
|
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933
|
|
|
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
|
|
|
|
NM_003640.5(ELP1):c.2170C>G (p.Leu724Val)
|
|
|
|
NM_003640.5(ELP1):c.2204A>G (p.Lys735Arg)
|
|
|
|
NM_003640.5(ELP1):c.2205-1G>A
|
|
|
|
NM_003640.5(ELP1):c.223C>T (p.Gln75Ter)
|
|
|
|
NM_003640.5(ELP1):c.2283+11_2283+15del
|
rs778115996
|
|
|
NM_003640.5(ELP1):c.2310C>G (p.Phe770Leu)
|
|
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
|
NM_003640.5(ELP1):c.2345T>A (p.Leu782Ter)
|
|
|
|
NM_003640.5(ELP1):c.2363+14A>G
|
rs2131984488
|
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
|
NM_003640.5(ELP1):c.2391_2392delinsGT (p.Tyr797_Pro798delinsTer)
|
|
|
|
NM_003640.5(ELP1):c.2396C>T (p.Ala799Val)
|
|
|
|
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)
|
rs370041985
|
|
|
NM_003640.5(ELP1):c.2404A>G (p.Thr802Ala)
|
|
|
|
NM_003640.5(ELP1):c.2405C>A (p.Thr802Asn)
|
|
|
|
NM_003640.5(ELP1):c.2443A>G (p.Lys815Glu)
|
|
|
|
NM_003640.5(ELP1):c.247G>A (p.Val83Met)
|
|
|
|
NM_003640.5(ELP1):c.2501+3A>G
|
|
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
|
NM_003640.5(ELP1):c.2502-12T>G
|
|
|
|
NM_003640.5(ELP1):c.2564T>C (p.Leu855Pro)
|
|
|
|
NM_003640.5(ELP1):c.2576A>G (p.His859Arg)
|
|
|
|
NM_003640.5(ELP1):c.2579A>G (p.Glu860Gly)
|
rs199796698
|
|
|
NM_003640.5(ELP1):c.2591A>G (p.Asn864Ser)
|
|
|
|
NM_003640.5(ELP1):c.2605C>T (p.Pro869Ser)
|
|
|
|
NM_003640.5(ELP1):c.2609A>T (p.Asp870Val)
|
|
|
|
NM_003640.5(ELP1):c.2618G>A (p.Ser873Asn)
|
|
|
|
NM_003640.5(ELP1):c.2747A>T (p.Glu916Val)
|
|
|
|
NM_003640.5(ELP1):c.2761C>A (p.Leu921Ile)
|
|
|
|
NM_003640.5(ELP1):c.2768C>T (p.Thr923Ile)
|
|
|
|
NM_003640.5(ELP1):c.2779del (p.Met927fs)
|
|
|
|
NM_003640.5(ELP1):c.2781G>A (p.Met927Ile)
|
|
|
|
NM_003640.5(ELP1):c.2813A>C (p.Lys938Thr)
|
|
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
|
NM_003640.5(ELP1):c.2826A>G (p.Arg942=)
|
|
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
|
NM_003640.5(ELP1):c.2858G>C (p.Cys953Ser)
|
|
|
|
NM_003640.5(ELP1):c.2870A>T (p.Tyr957Phe)
|
rs1828405751
|
|
|
NM_003640.5(ELP1):c.2903A>G (p.Lys968Arg)
|
|
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
|
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)
|
rs180931232
|
|
|
NM_003640.5(ELP1):c.2958+1del
|
|
|
|
NM_003640.5(ELP1):c.298C>T (p.Gln100Ter)
|
|
|
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
|
NM_003640.5(ELP1):c.3005A>G (p.Tyr1002Cys)
|
|
|
|
NM_003640.5(ELP1):c.3019del (p.Leu1007fs)
|
|
|
|
NM_003640.5(ELP1):c.3028G>T (p.Ala1010Ser)
|
|
|
|
NM_003640.5(ELP1):c.304-16A>G
|
|
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
|
NM_003640.5(ELP1):c.3058_3059del (p.Ala1021fs)
|
|
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
|
NM_003640.5(ELP1):c.3062C>T (p.Ala1021Val)
|
rs1226103389
|
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
|
NM_003640.5(ELP1):c.3071C>T (p.Thr1024Ile)
|
|
|
|
NM_003640.5(ELP1):c.307G>T (p.Glu103Ter)
|
rs2132045613
|
|
|
NM_003640.5(ELP1):c.3100G>A (p.Val1034Met)
|
|
|
|
NM_003640.5(ELP1):c.312T>C (p.Cys104=)
|
rs1291760879
|
|
|
NM_003640.5(ELP1):c.3178_3179del (p.Arg1060fs)
|
|
|
|
NM_003640.5(ELP1):c.3191A>T (p.Asp1064Val)
|
|
|
|
NM_003640.5(ELP1):c.3283C>G (p.Leu1095Val)
|
|
|
|
NM_003640.5(ELP1):c.3286-1G>A
|
|
|
|
NM_003640.5(ELP1):c.3320C>A (p.Thr1107Asn)
|
|
|
|
NM_003640.5(ELP1):c.3331C>G (p.Pro1111Ala)
|
|
|
|
NM_003640.5(ELP1):c.3345_3346+19del
|
|
|
|
NM_003640.5(ELP1):c.3349C>T (p.Gln1117Ter)
|
|
|
|
NM_003640.5(ELP1):c.3378dup (p.Gln1127fs)
|
rs1302114356
|
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
|
NM_003640.5(ELP1):c.3395G>C (p.Ser1132Thr)
|
|
|
|
NM_003640.5(ELP1):c.33G>T (p.Glu11Asp)
|
|
|
|
NM_003640.5(ELP1):c.3403A>G (p.Lys1135Glu)
|
|
|
|
NM_003640.5(ELP1):c.3408del (p.Lys1136fs)
|
rs1564072540
|
|
|
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
|
|
|
|
NM_003640.5(ELP1):c.3460+1G>A
|
rs1478450302
|
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
|
NM_003640.5(ELP1):c.34T>C (p.Phe12Leu)
|
|
|
|
NM_003640.5(ELP1):c.3517G>A (p.Val1173Met)
|
|
|
|
NM_003640.5(ELP1):c.3549_3553delinsATT (p.His1184fs)
|
|
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
|
NM_003640.5(ELP1):c.3572C>T (p.Ala1191Val)
|
|
|
|
NM_003640.5(ELP1):c.3577T>A (p.Ser1193Thr)
|
|
|
|
NM_003640.5(ELP1):c.3589C>T (p.Arg1197Cys)
|
rs370450007
|
|
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644
|
|
|
NM_003640.5(ELP1):c.3667A>T (p.Ser1223Cys)
|
|
|
|
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572
|
|
|
NM_003640.5(ELP1):c.3701-5T>G
|
|
|
|
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
|
|
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
|
NM_003640.5(ELP1):c.3802A>G (p.Arg1268Gly)
|
|
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
|
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
|
|
|
|
NM_003640.5(ELP1):c.385+6C>G
|
|
|
|
NM_003640.5(ELP1):c.3855+2T>A
|
|
|
|
NM_003640.5(ELP1):c.3874A>C (p.Thr1292Pro)
|
|
|
|
NM_003640.5(ELP1):c.389A>T (p.Gln130Leu)
|
|
|
|
NM_003640.5(ELP1):c.3925G>T (p.Val1309Phe)
|
|
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
|
NM_003640.5(ELP1):c.433G>T (p.Glu145Ter)
|
|
|
|
NM_003640.5(ELP1):c.443T>C (p.Ile148Thr)
|
|
|
|
NM_003640.5(ELP1):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_003640.5(ELP1):c.467-12A>G
|
|
|
|
NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly)
|
rs758442235
|
|
|
NM_003640.5(ELP1):c.548A>C (p.Gln183Pro)
|
|
|
|
NM_003640.5(ELP1):c.552+1G>A
|
|
|
|
NM_003640.5(ELP1):c.553-1G>A
|
|
|
|
NM_003640.5(ELP1):c.575A>C (p.Asp192Ala)
|
|
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
|
NM_003640.5(ELP1):c.607dup (p.Asp203fs)
|
|
|
|
NM_003640.5(ELP1):c.621dup (p.Ala208fs)
|
|
|
|
NM_003640.5(ELP1):c.629G>A (p.Ser210Asn)
|
|
|
|
NM_003640.5(ELP1):c.631G>T (p.Val211Phe)
|
|
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
|
NM_003640.5(ELP1):c.649+13A>T
|
|
|
|
NM_003640.5(ELP1):c.658A>G (p.Lys220Glu)
|
|
|
|
NM_003640.5(ELP1):c.674_678del (p.Asn225fs)
|
rs1449016398
|
|
|
NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)
|
|
|
|
NM_003640.5(ELP1):c.67T>C (p.Cys23Arg)
|
|
|
|
NM_003640.5(ELP1):c.728C>T (p.Ala243Val)
|
|
|
|
NM_003640.5(ELP1):c.738G>A (p.Trp246Ter)
|
|
|
|
NM_003640.5(ELP1):c.746C>G (p.Ser249Ter)
|
|
|
|
NM_003640.5(ELP1):c.766A>G (p.Thr256Ala)
|
|
|
|
NM_003640.5(ELP1):c.787C>G (p.Gln263Glu)
|
|
|
|
NM_003640.5(ELP1):c.802T>C (p.Phe268Leu)
|
|
|
|
NM_003640.5(ELP1):c.826G>T (p.Gly276Ter)
|
|
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
|
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe)
|
rs1288706972
|
|
|
NM_003640.5(ELP1):c.89A>G (p.Gln30Arg)
|
|
|
|
NM_003640.5(ELP1):c.904G>C (p.Ala302Pro)
|
|
|
|
NM_003640.5(ELP1):c.958+19_958+20delinsAT
|
rs2132024951
|
|
|
NM_003640.5(ELP1):c.95C>T (p.Thr32Met)
|
|
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
|
NM_003640.5(ELP1):c.991dup (p.Tyr331fs)
|
|
|
|
NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs)
|
|
|
|
NM_003738.5(PTCH2):c.1078G>C (p.Val360Leu)
|
rs745653597
|
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
|
NM_003738.5(PTCH2):c.1189del (p.Arg397fs)
|
rs778199787
|
|
|
NM_003738.5(PTCH2):c.1326del (p.Leu443fs)
|
rs755069524
|
|
|
NM_003738.5(PTCH2):c.1372-2A>T
|
|
|
|
NM_003738.5(PTCH2):c.1524del (p.Asn508fs)
|
|
|
|
NM_003738.5(PTCH2):c.1559C>T (p.Pro520Leu)
|
|
|
|
NM_003738.5(PTCH2):c.1670G>A (p.Arg557His)
|
|
|
|
NM_003738.5(PTCH2):c.1691T>G (p.Val564Gly)
|
|
|
|
NM_003738.5(PTCH2):c.1827C>A (p.Ser609Arg)
|
|
|
|
NM_003738.5(PTCH2):c.2019del (p.Tyr674fs)
|
|
|
|
NM_003738.5(PTCH2):c.2178C>A (p.Phe726Leu)
|
rs1573645770
|
|
|
NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro)
|
|
|
|
NM_003738.5(PTCH2):c.2339C>T (p.Thr780Ile)
|
|
|
|
NM_003738.5(PTCH2):c.2540G>A (p.Arg847Lys)
|
rs2148874807
|
|
|
NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)
|
|
|
|
NM_003738.5(PTCH2):c.2670C>G (p.Tyr890Ter)
|
|
|
|
NM_003738.5(PTCH2):c.2681G>A (p.Gly894Glu)
|
|
|
|
NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met)
|
|
|
|
NM_003738.5(PTCH2):c.3350C>T (p.Pro1117Leu)
|
|
|
|
NM_003738.5(PTCH2):c.3412G>A (p.Gly1138Arg)
|
|
|
|
NM_003738.5(PTCH2):c.565del (p.Leu189fs)
|
|
|
|
NM_003738.5(PTCH2):c.617+1G>A
|
|
|
|
NM_003738.5(PTCH2):c.617+4A>T
|
|
|
|
NM_003738.5(PTCH2):c.742G>A (p.Val248Met)
|
|
|
|
NM_003738.5(PTCH2):c.788G>C (p.Ser263Thr)
|
rs77102909
|
|
|
NM_003924.3(PHOX2B):c.-159C>T
|
rs887117495
|
|
|
NM_003924.3(PHOX2B):c.-265G>A
|
rs886059415
|
|
|
NM_003924.4(PHOX2B):c.*1156C>A
|
rs560413438
|
|
|
NM_003924.4(PHOX2B):c.*1269A>G
|
rs886059412
|
|
|
NM_003924.4(PHOX2B):c.*12GCG[4]
|
rs763380864
|
|
|
NM_003924.4(PHOX2B):c.*12GCG[8]
|
rs763380864
|
|
|
NM_003924.4(PHOX2B):c.*1334G>C
|
rs1733823205
|
|
|
NM_003924.4(PHOX2B):c.*1345G>T
|
rs1560464984
|
|
|
NM_003924.4(PHOX2B):c.*161G>C
|
rs114290493
|
|
|
NM_003924.4(PHOX2B):c.*194C>T
|
rs186778106
|
|
|
NM_003924.4(PHOX2B):c.*301C>G
|
rs1303150051
|
|
|
NM_003924.4(PHOX2B):c.*549dup
|
rs201654270
|
|
|
NM_003924.4(PHOX2B):c.*58G>C
|
rs886059413
|
|
|
NM_003924.4(PHOX2B):c.*680C>G
|
rs1560465172
|
|
|
NM_003924.4(PHOX2B):c.*789G>A
|
rs1733838098
|
|
|
NM_003924.4(PHOX2B):c.*838A>G
|
rs367652707
|
|
|
NM_003924.4(PHOX2B):c.153T>G (p.Phe51Leu)
|
|
|
|
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)
|
rs1577561176
|
|
|
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)
|
rs1733979302
|
|
|
NM_003924.4(PHOX2B):c.241+1G>A
|
rs2153113036
|
|
|
NM_003924.4(PHOX2B):c.242-5_242-2dup
|
rs1553898065
|
|
|
NM_003924.4(PHOX2B):c.26T>A (p.Leu9His)
|
rs2153113080
|
|
|
NM_003924.4(PHOX2B):c.280G>A (p.Glu94Lys)
|
|
|
|
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)
|
rs104893855
|
|
|
NM_003924.4(PHOX2B):c.373A>C (p.Ile125Leu)
|
|
|
|
NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg)
|
rs1400901317
|
|
|
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)
|
rs1162776926
|
|
|
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)
|
rs547677836
|
|
|
NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr)
|
rs1338837491
|
|
|
NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)
|
rs1733894415
|
|
|
NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys)
|
rs1560465720
|
|
|
NM_003924.4(PHOX2B):c.562A>C (p.Lys188Gln)
|
|
|
|
NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)
|
rs1353983410
|
|
|
NM_003924.4(PHOX2B):c.577G>C (p.Asp193His)
|
rs1577559273
|
|
|
NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp)
|
rs104893856
|
|
|
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala)
|
rs1292727082
|
|
|
NM_003924.4(PHOX2B):c.611C>A (p.Pro204His)
|
|
|
|
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)
|
rs587778606
|
|
|
NM_003924.4(PHOX2B):c.625G>A (p.Gly209Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)
|
rs760638643
|
|
|
NM_003924.4(PHOX2B):c.691G>A (p.Gly231Ser)
|
rs1577559082
|
|
|
NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr)
|
rs1433654836
|
|
|
NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala)
|
rs1433654836
|
|
|
NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter)
|
|
|
|
NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp)
|
rs1577559052
|
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
|
NM_003924.4(PHOX2B):c.742G>A (p.Ala248Thr)
|
|
|
|
NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)
|
|
|
|
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)
|
rs779557320
|
|
|
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)
|
rs17879189
|
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
|
NM_003924.4(PHOX2B):c.767C>T (p.Ala256Val)
|
|
|
|
NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val)
|
rs2153112760
|
|
|
NM_003924.4(PHOX2B):c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)
|
|
|
|
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)
|
|
|
|
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])
|
rs752879767
|
|
|
NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)
|
|
|
|
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)
|
rs1733870310
|
|
|
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)
|
rs1462459716
|
|
|
NM_003924.4(PHOX2B):c.860T>C (p.Leu287Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)
|
rs1733868277
|
|
|
NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr)
|
|
|
|
NM_003924.4(PHOX2B):c.880G>A (p.Val294Ile)
|
|
|
|
NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)
|
rs1577558708
|
|
|
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)
|
rs1553897738
|
|
|
NM_004304.5(ALK):c.*246G>A
|
rs1668908633
|
|
|
NM_004304.5(ALK):c.*403T>C
|
rs1668903533
|
|
|
NM_004304.5(ALK):c.*407A>C
|
rs1668903341
|
|
|
NM_004304.5(ALK):c.-156G>T
|
rs141444957
|
|
|
NM_004304.5(ALK):c.-292G>A
|
rs578166431
|
|
|
NM_004304.5(ALK):c.-312G>T
|
rs886055936
|
|
|
NM_004304.5(ALK):c.-313C>G
|
rs72857540
|
|
|
NM_004304.5(ALK):c.-376G>A
|
rs1254508871
|
|
|
NM_004304.5(ALK):c.-539G>A
|
rs200662898
|
|
|
NM_004304.5(ALK):c.-611G>A
|
rs1667997371
|
|
|
NM_004304.5(ALK):c.-61C>T
|
rs1052528841
|
|
|
NM_004304.5(ALK):c.-677G>A
|
rs368770999
|
|
|
NM_004304.5(ALK):c.-826C>A
|
rs886055939
|
|
|
NM_004304.5(ALK):c.-922C>A
|
rs372410498
|
|
|
NM_004304.5(ALK):c.1000C>T (p.Leu334=)
|
rs2148158771
|
|
|
NM_004304.5(ALK):c.1001T>A (p.Leu334Gln)
|
rs2148158767
|
|
|
NM_004304.5(ALK):c.1008G>T (p.Pro336=)
|
|
|
|
NM_004304.5(ALK):c.1009T>C (p.Trp337Arg)
|
rs886726765
|
|
|
NM_004304.5(ALK):c.1017G>C (p.Arg339Ser)
|
|
|
|
NM_004304.5(ALK):c.101C>T (p.Ala34Val)
|
rs1572503974
|
|
|
NM_004304.5(ALK):c.1021A>G (p.Ser341Gly)
|
rs755433685
|
|
|
NM_004304.5(ALK):c.1024A>G (p.Ser342Gly)
|
rs973756393
|
|
|
NM_004304.5(ALK):c.1025G>A (p.Ser342Asn)
|
rs2148158708
|
|
|
NM_004304.5(ALK):c.1027G>A (p.Glu343Lys)
|
rs1673134817
|
|
|
NM_004304.5(ALK):c.1029G>A (p.Glu343=)
|
|
|
|
NM_004304.5(ALK):c.1029G>T (p.Glu343Asp)
|
rs750010561
|
|
|
NM_004304.5(ALK):c.1030C>A (p.His344Asn)
|
|
|
|
NM_004304.5(ALK):c.1031A>G (p.His344Arg)
|
|
|
|
NM_004304.5(ALK):c.1032C>G (p.His344Gln)
|
|
|
|
NM_004304.5(ALK):c.1032C>T (p.His344=)
|
rs2148158695
|
|
|
NM_004304.5(ALK):c.1034G>A (p.Cys345Tyr)
|
rs1558370551
|
|
|
NM_004304.5(ALK):c.1034G>T (p.Cys345Phe)
|
|
|
|
NM_004304.5(ALK):c.1035C>T (p.Cys345=)
|
rs2148158692
|
|
|
NM_004304.5(ALK):c.1036A>C (p.Thr346Pro)
|
rs1673134390
|
|
|
NM_004304.5(ALK):c.1037C>T (p.Thr346Ile)
|
rs981203904
|
|
|
NM_004304.5(ALK):c.1039C>A (p.Leu347Met)
|
|
|
|
NM_004304.5(ALK):c.1039C>T (p.Leu347=)
|
rs747355737
|
|
|
NM_004304.5(ALK):c.103G>A (p.Gly35Arg)
|
rs2148443908
|
|
|
NM_004304.5(ALK):c.1043C>T (p.Ala348Val)
|
|
|
|
NM_004304.5(ALK):c.1047C>G (p.Val349=)
|
rs1673133465
|
|
|
NM_004304.5(ALK):c.104G>T (p.Gly35Val)
|
|
|
|
NM_004304.5(ALK):c.1050G>T (p.Ser350=)
|
rs749145522
|
|
|
NM_004304.5(ALK):c.1052T>C (p.Val351Ala)
|
rs1673133219
|
|
|
NM_004304.5(ALK):c.1053G>A (p.Val351=)
|
rs2148158654
|
|
|
NM_004304.5(ALK):c.1056C>G (p.His352Gln)
|
|
|
|
NM_004304.5(ALK):c.1057A>G (p.Arg353Gly)
|
|
|
|
NM_004304.5(ALK):c.105G>A (p.Gly35=)
|
|
|
|
NM_004304.5(ALK):c.105_124del (p.Pro36fs)
|
|
|
|
NM_004304.5(ALK):c.105_124dup (p.Glu42fs)
|
|
|
|
NM_004304.5(ALK):c.1060C>A (p.His354Asn)
|
|
|
|
NM_004304.5(ALK):c.1060C>G (p.His354Asp)
|
rs1490289892
|
|
|
NM_004304.5(ALK):c.1060C>T (p.His354Tyr)
|
|
|
|
NM_004304.5(ALK):c.1061A>G (p.His354Arg)
|
|
|
|
NM_004304.5(ALK):c.1062C>A (p.His354Gln)
|
|
|
|
NM_004304.5(ALK):c.1065G>A (p.Leu355=)
|
rs1673132858
|
|
|
NM_004304.5(ALK):c.1068G>A (p.Gln356=)
|
rs2148158617
|
|
|
NM_004304.5(ALK):c.1069C>A (p.Pro357Thr)
|
|
|
|
NM_004304.5(ALK):c.1071C>T (p.Pro357=)
|
rs770056506
|
|
|
NM_004304.5(ALK):c.1074T>C (p.Ser358=)
|
rs920664584
|
|
|
NM_004304.5(ALK):c.1075G>A (p.Gly359Arg)
|
|
|
|
NM_004304.5(ALK):c.1075G>C (p.Gly359Arg)
|
rs1673132541
|
|
|
NM_004304.5(ALK):c.1076G>A (p.Gly359Glu)
|
rs2148158595
|
|
|
NM_004304.5(ALK):c.1077A>G (p.Gly359=)
|
|
|
|
NM_004304.5(ALK):c.1078A>C (p.Arg360=)
|
rs2148158589
|
|
|
NM_004304.5(ALK):c.1078A>T (p.Arg360Trp)
|
|
|
|
NM_004304.5(ALK):c.1079G>A (p.Arg360Lys)
|
rs1673132479
|
|
|
NM_004304.5(ALK):c.107C>A (p.Pro36Gln)
|
rs773691688
|
|
|
NM_004304.5(ALK):c.107C>G (p.Pro36Arg)
|
rs773691688
|
|
|
NM_004304.5(ALK):c.1080G>T (p.Arg360Ser)
|
|
|
|
NM_004304.5(ALK):c.1081T>C (p.Tyr361His)
|
rs2148158586
|
|
|
NM_004304.5(ALK):c.1083C>A (p.Tyr361Ter)
|
|
|
|
NM_004304.5(ALK):c.1084A>G (p.Ile362Val)
|
rs1465809492
|
|
|
NM_004304.5(ALK):c.1085T>C (p.Ile362Thr)
|
rs1265733958
|
|
|
NM_004304.5(ALK):c.1086T>A (p.Ile362=)
|
rs1039091045
|
|
|
NM_004304.5(ALK):c.1086T>C (p.Ile362=)
|
|
|
|
NM_004304.5(ALK):c.1088C>G (p.Ala363Gly)
|
|
|
|
NM_004304.5(ALK):c.1088C>T (p.Ala363Val)
|
|
|
|
NM_004304.5(ALK):c.108G>A (p.Pro36=)
|
rs1060503879
|
|
|
NM_004304.5(ALK):c.108G>C (p.Pro36=)
|
|
|
|
NM_004304.5(ALK):c.1090C>T (p.Gln364Ter)
|
|
|
|
NM_004304.5(ALK):c.1095G>C (p.Leu365=)
|
rs1313071479
|
|
|
NM_004304.5(ALK):c.1095G>T (p.Leu365=)
|
rs1313071479
|
|
|
NM_004304.5(ALK):c.1099C>T (p.Pro367Ser)
|
rs1312459820
|
|
|
NM_004304.5(ALK):c.10A>G (p.Ile4Val)
|
|
|
|
NM_004304.5(ALK):c.1103A>T (p.His368Leu)
|
rs1673131453
|
|
|
NM_004304.5(ALK):c.1107C>A (p.Asn369Lys)
|
rs114429299
|
|
|
NM_004304.5(ALK):c.1112C>A (p.Ala371Asp)
|
|
|
|
NM_004304.5(ALK):c.1112C>G (p.Ala371Gly)
|
rs1673130758
|
|
|
NM_004304.5(ALK):c.1114G>C (p.Ala372Pro)
|
rs753549939
|
|
|
NM_004304.5(ALK):c.1115C>G (p.Ala372Gly)
|
|
|
|
NM_004304.5(ALK):c.1116A>C (p.Ala372=)
|
rs1060503880
|
|
|
NM_004304.5(ALK):c.1117A>G (p.Arg373Gly)
|
|
|
|
NM_004304.5(ALK):c.1119A>C (p.Arg373Ser)
|
|
|
|
NM_004304.5(ALK):c.111G>A (p.Pro37=)
|
rs1292866467
|
|
|
NM_004304.5(ALK):c.111G>C (p.Pro37=)
|
|
|
|
NM_004304.5(ALK):c.1122G>A (p.Glu374=)
|
|
|
|
NM_004304.5(ALK):c.1124T>A (p.Ile375Asn)
|
rs929806482
|
|
|
NM_004304.5(ALK):c.1124T>C (p.Ile375Thr)
|
rs929806482
|
|
|
NM_004304.5(ALK):c.1125C>A (p.Ile375=)
|
rs1297081293
|
|
|
NM_004304.5(ALK):c.1125C>T (p.Ile375=)
|
rs1297081293
|
|
|
NM_004304.5(ALK):c.1126C>T (p.Leu376Phe)
|
rs2148158493
|
|
|
NM_004304.5(ALK):c.1128C>G (p.Leu376=)
|
rs200396075
|
|
|
NM_004304.5(ALK):c.112C>T (p.Leu38=)
|
|
|
|
NM_004304.5(ALK):c.1133T>A (p.Met378Lys)
|
rs1178669386
|
|
|
NM_004304.5(ALK):c.1133T>G (p.Met378Arg)
|
|
|
|
NM_004304.5(ALK):c.1135C>T (p.Pro379Ser)
|
|
|
|
NM_004304.5(ALK):c.1136C>G (p.Pro379Arg)
|
rs2148158462
|
|
|
NM_004304.5(ALK):c.1137C>T (p.Pro379=)
|
|
|
|
NM_004304.5(ALK):c.1139C>G (p.Thr380Ser)
|
rs2148158461
|
|
|
NM_004304.5(ALK):c.1141C>G (p.Pro381Ala)
|
rs1451908328
|
|
|
NM_004304.5(ALK):c.1144G>C (p.Gly382Arg)
|
|
|
|
NM_004304.5(ALK):c.1146G>C (p.Gly382=)
|
rs755660917
|
|
|
NM_004304.5(ALK):c.1148A>C (p.Lys383Thr)
|
|
|
|
NM_004304.5(ALK):c.1149G>A (p.Lys383=)
|
rs767442144
|
|
|
NM_004304.5(ALK):c.1152T>C (p.His384=)
|
rs1553328114
|
|
|
NM_004304.5(ALK):c.1154+15A>G
|
|
|
|
NM_004304.5(ALK):c.1154+15A>T
|
|
|
|
NM_004304.5(ALK):c.1154+15del
|
|
|
|
NM_004304.5(ALK):c.1154+16T>A
|
rs1001922228
|
|
|
NM_004304.5(ALK):c.1154+17G>A
|
|
|
|
NM_004304.5(ALK):c.1154+18T>A
|
|
|
|
NM_004304.5(ALK):c.1154+1G>A
|
rs766100418
|
|
|
NM_004304.5(ALK):c.1154+20C>A
|
|
|
|
NM_004304.5(ALK):c.1154+20C>T
|
rs2148158375
|
|
|
NM_004304.5(ALK):c.1154+4A>T
|
rs763253846
|
|
|
NM_004304.5(ALK):c.1154+5G>A
|
rs2148158406
|
|
|
NM_004304.5(ALK):c.1154+5G>T
|
|
|
|
NM_004304.5(ALK):c.1154+7A>G
|
rs773631201
|
|
|
NM_004304.5(ALK):c.1154G>C (p.Gly385Ala)
|
rs774127733
|
|
|
NM_004304.5(ALK):c.1155-10A>G
|
rs373017069
|
|
|
NM_004304.5(ALK):c.1155-14T>G
|
|
|
|
NM_004304.5(ALK):c.1155-16T>C
|
|
|
|
NM_004304.5(ALK):c.1155-19T>C
|
rs2148301842
|
|
|
NM_004304.5(ALK):c.1155-19dup
|
rs1668968004
|
|
|
NM_004304.5(ALK):c.1155-1G>A
|
rs1573303570
|
|
|
NM_004304.5(ALK):c.1155-20_1155-19del
|
rs140451928
|
|
|
NM_004304.5(ALK):c.1155-3C>T
|
|
|
|
NM_004304.5(ALK):c.1155-4C>T
|
|
|
|
NM_004304.5(ALK):c.1155-4_1155-3delinsAA
|
|
|
|
NM_004304.5(ALK):c.1155-5A>G
|
|
|
|
NM_004304.5(ALK):c.1155-6A>G
|
|
|
|
NM_004304.5(ALK):c.1155-9T>C
|
rs1668967647
|
|
|
NM_004304.5(ALK):c.1155T>A (p.Gly385=)
|
|
|
|
NM_004304.5(ALK):c.1157G>A (p.Trp386Ter)
|
|
|
|
NM_004304.5(ALK):c.1160C>G (p.Thr387Arg)
|
rs2148301787
|
|
|
NM_004304.5(ALK):c.1161_1162dup (p.Val388fs)
|
|
|
|
NM_004304.5(ALK):c.1163T>A (p.Val388Glu)
|
rs1668966196
|
|
|
NM_004304.5(ALK):c.1165C>T (p.Leu389Phe)
|
|
|
|
NM_004304.5(ALK):c.1167C>T (p.Leu389=)
|
rs1573303556
|
|
|
NM_004304.5(ALK):c.116A>C (p.Gln39Pro)
|
|
|
|
NM_004304.5(ALK):c.116A>G (p.Gln39Arg)
|
|
|
|
NM_004304.5(ALK):c.1170G>C (p.Gln390His)
|
|
|
|
NM_004304.5(ALK):c.1174A>T (p.Arg392Ter)
|
|
|
|
NM_004304.5(ALK):c.1175G>A (p.Arg392Lys)
|
rs2148301750
|
|
|
NM_004304.5(ALK):c.1175G>C (p.Arg392Thr)
|
rs2148301750
|
|
|
NM_004304.5(ALK):c.1179C>A (p.Ile393=)
|
rs371642412
|
|
|
NM_004304.5(ALK):c.1179C>T (p.Ile393=)
|
rs371642412
|
|
|
NM_004304.5(ALK):c.1179del (p.Ile393fs)
|
rs1668965828
|
|
|
NM_004304.5(ALK):c.117G>T (p.Gln39His)
|
|
|
|
NM_004304.5(ALK):c.1182G>A (p.Gly394=)
|
rs1470291492
|
|
|
NM_004304.5(ALK):c.1183C>A (p.Arg395Ser)
|
rs779282861
|
|
|
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)
|
rs779282861
|
|
|
NM_004304.5(ALK):c.1186C>A (p.Pro396Thr)
|
|
|
|
NM_004304.5(ALK):c.1189G>C (p.Asp397His)
|
rs747810439
|
|
|
NM_004304.5(ALK):c.118C>G (p.Pro40Ala)
|
rs371679329
|
|
|
NM_004304.5(ALK):c.1190A>G (p.Asp397Gly)
|
rs368122868
|
|
|
NM_004304.5(ALK):c.1194C>T (p.Asn398=)
|
|
|
|
NM_004304.5(ALK):c.119C>A (p.Pro40His)
|
rs200212200
|
|
|
NM_004304.5(ALK):c.1201C>A (p.Arg401=)
|
|
|
|
NM_004304.5(ALK):c.1201C>T (p.Arg401Ter)
|
rs865931787
|
|
|
NM_004304.5(ALK):c.1201_1218dup (p.Tyr406_Ile407insArgValAlaLeuGluTyr)
|
|
|
|
NM_004304.5(ALK):c.1206G>A (p.Val402=)
|
rs1489452308
|
|
|
NM_004304.5(ALK):c.1207G>A (p.Ala403Thr)
|
rs1267269954
|
|
|
NM_004304.5(ALK):c.1208C>A (p.Ala403Asp)
|
rs1060500211
|
|
|
NM_004304.5(ALK):c.120C>G (p.Pro40=)
|
|
|
|
NM_004304.5(ALK):c.120C>T (p.Pro40=)
|
rs768904675
|
|
|
NM_004304.5(ALK):c.1210C>G (p.Leu404Val)
|
|
|
|
NM_004304.5(ALK):c.1210C>T (p.Leu404=)
|
rs1668964417
|
|
|
NM_004304.5(ALK):c.1214A>T (p.Glu405Val)
|
rs1553309548
|
|
|
NM_004304.5(ALK):c.1219A>T (p.Ile407Phe)
|
|
|
|
NM_004304.5(ALK):c.121C>T (p.Arg41Trp)
|
rs878854653
|
|
|
NM_004304.5(ALK):c.1220T>C (p.Ile407Thr)
|
|
|
|
NM_004304.5(ALK):c.1221C>T (p.Ile407=)
|
|
|
|
NM_004304.5(ALK):c.1223C>G (p.Ser408Cys)
|
rs1348960950
|
|
|
NM_004304.5(ALK):c.1224C>T (p.Ser408=)
|
|
|
|
NM_004304.5(ALK):c.1226G>A (p.Ser409Asn)
|
rs2148301582
|
|
|
NM_004304.5(ALK):c.1229G>A (p.Gly410Glu)
|
rs760717114
|
|
|
NM_004304.5(ALK):c.1235G>T (p.Arg412Leu)
|
rs1388736375
|
|
|
NM_004304.5(ALK):c.1236C>T (p.Arg412=)
|
rs2148301533
|
|
|
NM_004304.5(ALK):c.1239C>T (p.Ser413=)
|
rs2148301523
|
|
|
NM_004304.5(ALK):c.1242G>A (p.Leu414=)
|
|
|
|
NM_004304.5(ALK):c.1242G>C (p.Leu414Phe)
|
|
|
|
NM_004304.5(ALK):c.1243T>C (p.Ser415Pro)
|
rs1668963051
|
|
|
NM_004304.5(ALK):c.1246G>A (p.Ala416Thr)
|
rs775917326
|
|
|
NM_004304.5(ALK):c.1247C>T (p.Ala416Val)
|
rs772529363
|
|
|
NM_004304.5(ALK):c.1248A>C (p.Ala416=)
|
|
|
|
NM_004304.5(ALK):c.1249G>A (p.Val417Met)
|
rs886055931
|
|
|
NM_004304.5(ALK):c.1249del (p.Val417fs)
|
rs1668962676
|
|
|
NM_004304.5(ALK):c.124G>C (p.Glu42Gln)
|
rs1553380444
|
|
|
NM_004304.5(ALK):c.1250T>C (p.Val417Ala)
|
rs2148301479
|
|
|
NM_004304.5(ALK):c.1251G>A (p.Val417=)
|
|
|
|
NM_004304.5(ALK):c.1252G>C (p.Asp418His)
|
|
|
|
NM_004304.5(ALK):c.1253A>G (p.Asp418Gly)
|
rs2148301472
|
|
|
NM_004304.5(ALK):c.1253A>T (p.Asp418Val)
|
|
|
|
NM_004304.5(ALK):c.1254C>A (p.Asp418Glu)
|
rs1668962410
|
|
|
NM_004304.5(ALK):c.1257C>T (p.Phe419=)
|
rs760042577
|
|
|
NM_004304.5(ALK):c.1258T>C (p.Phe420Leu)
|
|
|
|
NM_004304.5(ALK):c.1261G>A (p.Ala421Thr)
|
rs2148301460
|
|
|
NM_004304.5(ALK):c.1261G>T (p.Ala421Ser)
|
|
|
|
NM_004304.5(ALK):c.1262C>A (p.Ala421Asp)
|
rs1267142388
|
|
|
NM_004304.5(ALK):c.1262C>T (p.Ala421Val)
|
rs1267142388
|
|
|
NM_004304.5(ALK):c.1263C>G (p.Ala421=)
|
|
|
|
NM_004304.5(ALK):c.1266G>A (p.Leu422=)
|
|
|
|
NM_004304.5(ALK):c.1269G>T (p.Lys423Asn)
|
|
|
|
NM_004304.5(ALK):c.126G>A (p.Glu42=)
|
|
|
|
NM_004304.5(ALK):c.1272C>A (p.Asn424Lys)
|
|
|
|
NM_004304.5(ALK):c.1272C>T (p.Asn424=)
|
rs747832091
|
|
|
NM_004304.5(ALK):c.1273T>C (p.Cys425Arg)
|
|
|
|
NM_004304.5(ALK):c.1273T>G (p.Cys425Gly)
|
rs2148301432
|
|
|
NM_004304.5(ALK):c.1274G>A (p.Cys425Tyr)
|
rs1318224093
|
|
|
NM_004304.5(ALK):c.1276A>G (p.Ser426Gly)
|
rs1558300778
|
|
|
NM_004304.5(ALK):c.1278T>G (p.Ser426Arg)
|
|
|
|
NM_004304.5(ALK):c.1281A>C (p.Glu427Asp)
|
|
|
|
NM_004304.5(ALK):c.1282+11C>T
|
|
|
|
NM_004304.5(ALK):c.1282+12T>C
|
|
|
|
NM_004304.5(ALK):c.1282+14G>C
|
|
|
|
NM_004304.5(ALK):c.1282+19C>G
|
rs758341143
|
|
|
NM_004304.5(ALK):c.1282+19C>T
|
|
|
|
NM_004304.5(ALK):c.1282+1G>A
|
|
|
|
NM_004304.5(ALK):c.1282+3A>G
|
|
|
|
NM_004304.5(ALK):c.1282+5C>G
|
rs1668960950
|
|
|
NM_004304.5(ALK):c.1282+6T>C
|
|
|
|
NM_004304.5(ALK):c.1282G>A (p.Gly428Arg)
|
rs1573303300
|
|
|
NM_004304.5(ALK):c.1283-10T>C
|
|
|
|
NM_004304.5(ALK):c.1283-12T>C
|
rs2148258457
|
|
|
NM_004304.5(ALK):c.1283-13G>C
|
|
|
|
NM_004304.5(ALK):c.1283-14TG[2]
|
rs1573239381
|
|
|
NM_004304.5(ALK):c.1283-15C>A
|
|
|
|
NM_004304.5(ALK):c.1283-15C>G
|
|
|
|
NM_004304.5(ALK):c.1283-17G>C
|
|
|
|
NM_004304.5(ALK):c.1283-19G>A
|
|
|
|
NM_004304.5(ALK):c.1283-19G>C
|
|
|
|
NM_004304.5(ALK):c.1283-1G>A
|
|
|
|
NM_004304.5(ALK):c.1283-20T>C
|
|
|
|
NM_004304.5(ALK):c.1283-21GT[2]
|
|
|
|
NM_004304.5(ALK):c.1283-7T>C
|
|
|
|
NM_004304.5(ALK):c.1283-8C>T
|
|
|
|
NM_004304.5(ALK):c.1283-9G>A
|
|
|
|
NM_004304.5(ALK):c.1283G>A (p.Gly428Glu)
|
|
|
|
NM_004304.5(ALK):c.1283G>T (p.Gly428Val)
|
|
|
|
NM_004304.5(ALK):c.1284A>T (p.Gly428=)
|
|
|
|
NM_004304.5(ALK):c.1288T>A (p.Ser430Thr)
|
rs2148258441
|
|
|
NM_004304.5(ALK):c.1288T>C (p.Ser430Pro)
|
|
|
|
NM_004304.5(ALK):c.1289C>A (p.Ser430Tyr)
|
rs1667341491
|
|
|
NM_004304.5(ALK):c.128C>T (p.Pro43Leu)
|
rs78378278
|
|
|
NM_004304.5(ALK):c.1290C>T (p.Ser430=)
|
|
|
|
NM_004304.5(ALK):c.1291C>T (p.Pro431Ser)
|
rs1667341414
|
|
|
NM_004304.5(ALK):c.1295G>A (p.Gly432Asp)
|
|
|
|
NM_004304.5(ALK):c.1295G>T (p.Gly432Val)
|
|
|
|
NM_004304.5(ALK):c.1296C>T (p.Gly432=)
|
rs2148258416
|
|
|
NM_004304.5(ALK):c.1300A>G (p.Lys434Glu)
|
rs1667341023
|
|
|
NM_004304.5(ALK):c.1301A>G (p.Lys434Arg)
|
rs1558675795
|
|
|
NM_004304.5(ALK):c.1305G>A (p.Met435Ile)
|
|
|
|
NM_004304.5(ALK):c.1306G>A (p.Ala436Thr)
|
rs745772939
|
|
|
NM_004304.5(ALK):c.1307C>G (p.Ala436Gly)
|
|
|
|
NM_004304.5(ALK):c.1307C>T (p.Ala436Val)
|
rs1430324218
|
|
|
NM_004304.5(ALK):c.1309C>T (p.Leu437=)
|
rs2148258398
|
|
|
NM_004304.5(ALK):c.130C>T (p.Leu44Phe)
|
|
|
|
NM_004304.5(ALK):c.1310_1311delinsAA (p.Leu437Gln)
|
rs2148258390
|
|
|
NM_004304.5(ALK):c.1312C>A (p.Gln438Lys)
|
|
|
|
NM_004304.5(ALK):c.1312C>T (p.Gln438Ter)
|
|
|
|
NM_004304.5(ALK):c.1313A>T (p.Gln438Leu)
|
rs2148258388
|
|
|
NM_004304.5(ALK):c.1318T>C (p.Ser440Pro)
|
|
|
|
NM_004304.5(ALK):c.1319C>T (p.Ser440Phe)
|
rs1667340308
|
|
|
NM_004304.5(ALK):c.131T>C (p.Leu44Pro)
|
rs1304641292
|
|
|
NM_004304.5(ALK):c.1320C>T (p.Ser440=)
|
|
|
|
NM_004304.5(ALK):c.1322T>C (p.Phe441Ser)
|
|
|
|
NM_004304.5(ALK):c.1323_1325del (p.Thr442del)
|
|
|
|
NM_004304.5(ALK):c.1324A>G (p.Thr442Ala)
|
rs1667340141
|
|
|
NM_004304.5(ALK):c.1325C>T (p.Thr442Ile)
|
|
|
|
NM_004304.5(ALK):c.1329T>C (p.Cys443=)
|
rs1573239309
|
|
|
NM_004304.5(ALK):c.132C>G (p.Leu44=)
|
rs778487357
|
|
|
NM_004304.5(ALK):c.132C>T (p.Leu44=)
|
rs778487357
|
|
|
NM_004304.5(ALK):c.1332G>T (p.Trp444Cys)
|
|
|
|
NM_004304.5(ALK):c.1335T>C (p.Asn445=)
|
rs2148258353
|
|
|
NM_004304.5(ALK):c.1336G>A (p.Gly446Arg)
|
|
|
|
NM_004304.5(ALK):c.1338G>T (p.Gly446=)
|
rs2148258343
|
|
|
NM_004304.5(ALK):c.1340C>A (p.Thr447Lys)
|
|
|
|
NM_004304.5(ALK):c.1343T>A (p.Val448Asp)
|
rs1425828384
|
|
|
NM_004304.5(ALK):c.1346T>G (p.Leu449Arg)
|
rs1667339511
|
|
|
NM_004304.5(ALK):c.1347C>T (p.Leu449=)
|
rs2148258326
|
|
|
NM_004304.5(ALK):c.134G>C (p.Ser45Thr)
|
rs2148443832
|
|
|
NM_004304.5(ALK):c.1350G>A (p.Gln450=)
|
|
|
|
NM_004304.5(ALK):c.1351C>G (p.Leu451Val)
|
rs199970780
|
|
|
NM_004304.5(ALK):c.1354G>C (p.Gly452Arg)
|
rs1277320933
|
|
|
NM_004304.5(ALK):c.1355G>A (p.Gly452Glu)
|
rs2148258315
|
|
|
NM_004304.5(ALK):c.1357C>G (p.Gln453Glu)
|
|
|
|
NM_004304.5(ALK):c.1357C>T (p.Gln453Ter)
|
|
|
|
NM_004304.5(ALK):c.135C>A (p.Ser45Arg)
|
rs1667966785
|
|
|
NM_004304.5(ALK):c.1360G>A (p.Ala454Thr)
|
rs755089158
|
|
|
NM_004304.5(ALK):c.1361C>G (p.Ala454Gly)
|
rs766818130
|
|
|
NM_004304.5(ALK):c.1361C>T (p.Ala454Val)
|
rs766818130
|
|
|
NM_004304.5(ALK):c.1366G>A (p.Asp456Asn)
|
rs2148258283
|
|
|
NM_004304.5(ALK):c.1368C>T (p.Asp456=)
|
rs2148258275
|
|
|
NM_004304.5(ALK):c.1371C>G (p.Phe457Leu)
|
rs2148258267
|
|
|
NM_004304.5(ALK):c.1371C>T (p.Phe457=)
|
rs2148258267
|
|
|
NM_004304.5(ALK):c.1372C>G (p.His458Asp)
|
|
|
|
NM_004304.5(ALK):c.1372C>T (p.His458Tyr)
|
|
|
|
NM_004304.5(ALK):c.1375C>G (p.Gln459Glu)
|
rs1466204048
|
|
|
NM_004304.5(ALK):c.1377G>C (p.Gln459His)
|
|
|
|
NM_004304.5(ALK):c.1378G>A (p.Asp460Asn)
|
|
|
|
NM_004304.5(ALK):c.1380C>A (p.Asp460Glu)
|
|
|
|
NM_004304.5(ALK):c.1381del (p.Cys461fs)
|
|
|
|
NM_004304.5(ALK):c.1382G>A (p.Cys461Tyr)
|
|
|
|
NM_004304.5(ALK):c.1384G>T (p.Ala462Ser)
|
|
|
|
NM_004304.5(ALK):c.1385C>A (p.Ala462Asp)
|
|
|
|
NM_004304.5(ALK):c.1385C>T (p.Ala462Val)
|
|
|
|
NM_004304.5(ALK):c.1386C>T (p.Ala462=)
|
rs2148258238
|
|
|
NM_004304.5(ALK):c.1387del (p.Gln463fs)
|
rs2148258233
|
|
|
NM_004304.5(ALK):c.1388A>C (p.Gln463Pro)
|
|
|
|
NM_004304.5(ALK):c.1388A>G (p.Gln463Arg)
|
|
|
|
NM_004304.5(ALK):c.1389G>A (p.Gln463=)
|
|
|
|
NM_004304.5(ALK):c.1389G>C (p.Gln463His)
|
rs1667338201
|
|
|
NM_004304.5(ALK):c.1392AGA[1] (p.Glu465del)
|
rs1573239194
|
|
|
NM_004304.5(ALK):c.1393G>A (p.Glu465Lys)
|
rs1553411110
|
|
|
NM_004304.5(ALK):c.1395A>G (p.Glu465=)
|
rs2148258217
|
|
|
NM_004304.5(ALK):c.1396G>A (p.Asp466Asn)
|
rs1667337818
|
|
|
NM_004304.5(ALK):c.1397A>G (p.Asp466Gly)
|
|
|
|
NM_004304.5(ALK):c.1397A>T (p.Asp466Val)
|
|
|
|
NM_004304.5(ALK):c.1399G>T (p.Glu467Ter)
|
rs2148258207
|
|
|
NM_004304.5(ALK):c.139T>G (p.Ser47Ala)
|
rs1402352282
|
|
|
NM_004304.5(ALK):c.1402A>G (p.Ser468Gly)
|
|
|
|
NM_004304.5(ALK):c.1403G>A (p.Ser468Asn)
|
rs1573239187
|
|
|
NM_004304.5(ALK):c.1404C>A (p.Ser468Arg)
|
rs1667337590
|
|
|
NM_004304.5(ALK):c.1408A>G (p.Met470Val)
|
|
|
|
NM_004304.5(ALK):c.1408A>T (p.Met470Leu)
|
|
|
|
NM_004304.5(ALK):c.1414+14G>T
|
|
|
|
NM_004304.5(ALK):c.1414+18C>G
|
rs2148258156
|
|
|
NM_004304.5(ALK):c.1414+19C>T
|
|
|
|
NM_004304.5(ALK):c.1414+20C>T
|
|
|
|
NM_004304.5(ALK):c.1414+3G>A
|
|
|
|
NM_004304.5(ALK):c.1414+4A>T
|
|
|
|
NM_004304.5(ALK):c.1414+8G>A
|
rs2148258170
|
|
|
NM_004304.5(ALK):c.1414C>T (p.Arg472Trp)
|
rs749263944
|
|
|
NM_004304.5(ALK):c.1415-11TC[2]
|
rs2148251132
|
|
|
NM_004304.5(ALK):c.1415-12C>A
|
|
|
|
NM_004304.5(ALK):c.1415-12_1415-11insA
|
|
|
|
NM_004304.5(ALK):c.1415-14_1415-13del
|
|
|
|
NM_004304.5(ALK):c.1415-17C>G
|
|
|
|
NM_004304.5(ALK):c.1415-17C>T
|
rs773943842
|
|
|
NM_004304.5(ALK):c.1415-19CT[2]
|
|
|
|
NM_004304.5(ALK):c.1415-6C>G
|
|
|
|
NM_004304.5(ALK):c.1415-8C>T
|
|
|
|
NM_004304.5(ALK):c.1415-9T>A
|
|
|
|
NM_004304.5(ALK):c.1416G>A (p.Arg472=)
|
rs1325368309
|
|
|
NM_004304.5(ALK):c.1419A>G (p.Lys473=)
|
rs1268853000
|
|
|
NM_004304.5(ALK):c.141G>T (p.Ser47=)
|
|
|
|
NM_004304.5(ALK):c.1420C>T (p.Leu474=)
|
|
|
|
NM_004304.5(ALK):c.1422G>T (p.Leu474=)
|
rs2148251105
|
|
|
NM_004304.5(ALK):c.1426G>A (p.Val476Met)
|
rs984951289
|
|
|
NM_004304.5(ALK):c.1428G>A (p.Val476=)
|
rs1667017111
|
|
|
NM_004304.5(ALK):c.1429G>T (p.Gly477Cys)
|
|
|
|
NM_004304.5(ALK):c.142C>A (p.Arg48Ser)
|
rs1060500221
|
|
|
NM_004304.5(ALK):c.1431T>C (p.Gly477=)
|
|
|
|
NM_004304.5(ALK):c.1432T>A (p.Phe478Ile)
|
rs1667016994
|
|
|
NM_004304.5(ALK):c.1435T>C (p.Tyr479His)
|
rs1400418889
|
|
|
NM_004304.5(ALK):c.1436A>T (p.Tyr479Phe)
|
|
|
|
NM_004304.5(ALK):c.1437C>T (p.Tyr479=)
|
rs2148251070
|
|
|
NM_004304.5(ALK):c.143G>C (p.Arg48Pro)
|
|
|
|
NM_004304.5(ALK):c.143G>T (p.Arg48Leu)
|
|
|
|
NM_004304.5(ALK):c.1440C>A (p.Cys480Ter)
|
rs1667016608
|
|
|
NM_004304.5(ALK):c.1443C>A (p.Asn481Lys)
|
rs200448968
|
|
|
NM_004304.5(ALK):c.1443C>G (p.Asn481Lys)
|
|
|
|
NM_004304.5(ALK):c.1446T>G (p.Phe482Leu)
|
rs1174777663
|
|
|
NM_004304.5(ALK):c.144C>T (p.Arg48=)
|
|
|
|
NM_004304.5(ALK):c.1455C>T (p.Gly485=)
|
|
|
|
NM_004304.5(ALK):c.1456T>C (p.Phe486Leu)
|
|
|
|
NM_004304.5(ALK):c.1458C>T (p.Phe486=)
|
rs1667015627
|
|
|
NM_004304.5(ALK):c.1459T>A (p.Cys487Ser)
|
rs2148251026
|
|
|
NM_004304.5(ALK):c.1459T>G (p.Cys487Gly)
|
|
|
|
NM_004304.5(ALK):c.145C>T (p.Leu49=)
|
rs369007050
|
|
|
NM_004304.5(ALK):c.1460G>A (p.Cys487Tyr)
|
rs1667015469
|
|
|
NM_004304.5(ALK):c.1461T>C (p.Cys487=)
|
|
|
|
NM_004304.5(ALK):c.1463G>A (p.Gly488Asp)
|
|
|
|
NM_004304.5(ALK):c.1467G>C (p.Trp489Cys)
|
|
|
|
NM_004304.5(ALK):c.146T>G (p.Leu49Arg)
|
rs1667966165
|
|
|
NM_004304.5(ALK):c.1473A>T (p.Gln491His)
|
rs1573227409
|
|
|
NM_004304.5(ALK):c.1474G>A (p.Gly492Ser)
|
rs1667014493
|
|
|
NM_004304.5(ALK):c.1474G>C (p.Gly492Arg)
|
rs1667014493
|
|
|
NM_004304.5(ALK):c.1474G>T (p.Gly492Cys)
|
rs1667014493
|
|
|
NM_004304.5(ALK):c.1476C>A (p.Gly492=)
|
rs1667014321
|
|
|
NM_004304.5(ALK):c.1476C>T (p.Gly492=)
|
rs1667014321
|
|
|
NM_004304.5(ALK):c.1479A>G (p.Thr493=)
|
rs757874850
|
|
|
NM_004304.5(ALK):c.1482G>A (p.Leu494=)
|
rs1573227401
|
|
|
NM_004304.5(ALK):c.1482G>C (p.Leu494=)
|
rs1573227401
|
|
|
NM_004304.5(ALK):c.1482G>T (p.Leu494=)
|
|
|
|
NM_004304.5(ALK):c.1487C>T (p.Pro496Leu)
|
rs1231969163
|
|
|
NM_004304.5(ALK):c.1488C>A (p.Pro496=)
|
rs1189878579
|
|
|
NM_004304.5(ALK):c.1488C>G (p.Pro496=)
|
rs1189878579
|
|
|
NM_004304.5(ALK):c.1489C>T (p.His497Tyr)
|
rs2148250941
|
|
|
NM_004304.5(ALK):c.1491C>T (p.His497=)
|
|
|
|
NM_004304.5(ALK):c.1494T>C (p.Thr498=)
|
|
|
|
NM_004304.5(ALK):c.1495C>T (p.Pro499Ser)
|
|
|
|
NM_004304.5(ALK):c.1496C>A (p.Pro499His)
|
rs1558669753
|
|
|
NM_004304.5(ALK):c.1496C>T (p.Pro499Leu)
|
rs1558669753
|
|
|
NM_004304.5(ALK):c.1497T>A (p.Pro499=)
|
rs2148250933
|
|
|
NM_004304.5(ALK):c.149A>T (p.Gln50Leu)
|
rs1060500222
|
|
|
NM_004304.5(ALK):c.1500A>C (p.Gln500His)
|
rs2293564
|
|
|
NM_004304.5(ALK):c.1502G>T (p.Trp501Leu)
|
rs1667012482
|
|
|
NM_004304.5(ALK):c.1504C>A (p.Gln502Lys)
|
|
|
|
NM_004304.5(ALK):c.1504C>T (p.Gln502Ter)
|
rs2148250921
|
|
|
NM_004304.5(ALK):c.1505A>G (p.Gln502Arg)
|
|
|
|
NM_004304.5(ALK):c.1507G>A (p.Val503Ile)
|
rs1229156257
|
|
|
NM_004304.5(ALK):c.1511G>A (p.Arg504Lys)
|
rs1667011797
|
|
|
NM_004304.5(ALK):c.1513A>T (p.Thr505Ser)
|
|
|
|
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)
|
rs762569153
|
|
|
NM_004304.5(ALK):c.1519A>C (p.Lys507Gln)
|
|
|
|
NM_004304.5(ALK):c.1522G>T (p.Asp508Tyr)
|
|
|
|
NM_004304.5(ALK):c.1525G>C (p.Ala509Pro)
|
rs772615782
|
|
|
NM_004304.5(ALK):c.1528C>G (p.Arg510Gly)
|
rs201449759
|
|
|
NM_004304.5(ALK):c.1530G>T (p.Arg510=)
|
|
|
|
NM_004304.5(ALK):c.1535A>G (p.Gln512Arg)
|
|
|
|
NM_004304.5(ALK):c.1537G>C (p.Asp513His)
|
|
|
|
NM_004304.5(ALK):c.1542C>A (p.His514Gln)
|
rs2148250838
|
|
|
NM_004304.5(ALK):c.1543C>G (p.Gln515Glu)
|
rs1485228012
|
|
|
NM_004304.5(ALK):c.1544A>G (p.Gln515Arg)
|
|
|
|
NM_004304.5(ALK):c.1545A>C (p.Gln515His)
|
|
|
|
NM_004304.5(ALK):c.1545A>G (p.Gln515=)
|
rs2148250832
|
|
|
NM_004304.5(ALK):c.1546+11T>C
|
|
|
|
NM_004304.5(ALK):c.1546+16T>C
|
rs2148250809
|
|
|
NM_004304.5(ALK):c.1546+1G>A
|
rs2148250829
|
|
|
NM_004304.5(ALK):c.1546+1G>C
|
|
|
|
NM_004304.5(ALK):c.1546+4C>T
|
rs1553409762
|
|
|
NM_004304.5(ALK):c.1546+6A>G
|
|
|
|
NM_004304.5(ALK):c.1546+7C>A
|
|
|
|
NM_004304.5(ALK):c.1546+7C>G
|
rs1275181342
|
|
|
NM_004304.5(ALK):c.1546+7C>T
|
rs1275181342
|
|
|
NM_004304.5(ALK):c.1546+8T>C
|
rs2148250821
|
|
|
NM_004304.5(ALK):c.1546+9G>C
|
|
|
|
NM_004304.5(ALK):c.1546+9G>T
|
rs2148250819
|
|
|
NM_004304.5(ALK):c.1546+9_1546+10del
|
|
|
|
NM_004304.5(ALK):c.1546G>A (p.Asp516Asn)
|
|
|
|
NM_004304.5(ALK):c.1547-12C>G
|
rs2148248345
|
|
|
NM_004304.5(ALK):c.1547-13T>C
|
|
|
|
NM_004304.5(ALK):c.1547-16T>C
|
|
|
|
NM_004304.5(ALK):c.1547-17C>T
|
|
|
|
NM_004304.5(ALK):c.1547-1G>A
|
|
|
|
NM_004304.5(ALK):c.1547-4C>G
|
|
|
|
NM_004304.5(ALK):c.1547-5C>G
|
|
|
|
NM_004304.5(ALK):c.1547-7C>T
|
|
|
|
NM_004304.5(ALK):c.1547-9C>T
|
|
|
|
NM_004304.5(ALK):c.1548C>T (p.Asp516=)
|
rs1573223163
|
|
|
NM_004304.5(ALK):c.1552G>A (p.Ala518Thr)
|
|
|
|
NM_004304.5(ALK):c.1552G>C (p.Ala518Pro)
|
rs1666897900
|
|
|
NM_004304.5(ALK):c.1552G>T (p.Ala518Ser)
|
|
|
|
NM_004304.5(ALK):c.1555C>T (p.Leu519=)
|
rs1060503878
|
|
|
NM_004304.5(ALK):c.1557A>G (p.Leu519=)
|
|
|
|
NM_004304.5(ALK):c.1559T>C (p.Leu520Ser)
|
|
|
|
NM_004304.5(ALK):c.1561C>T (p.Leu521Phe)
|
rs772274018
|
|
|
NM_004304.5(ALK):c.1562T>C (p.Leu521Pro)
|
|
|
|
NM_004304.5(ALK):c.1564A>G (p.Ser522Gly)
|
rs1573223126
|
|
|
NM_004304.5(ALK):c.1564A>T (p.Ser522Cys)
|
rs1573223126
|
|
|
NM_004304.5(ALK):c.1565G>A (p.Ser522Asn)
|
rs1553409333
|
|
|
NM_004304.5(ALK):c.1565G>T (p.Ser522Ile)
|
rs1553409333
|
|
|
NM_004304.5(ALK):c.1568C>A (p.Thr523Asn)
|
|
|
|
NM_004304.5(ALK):c.1568C>T (p.Thr523Ile)
|
rs1553409330
|
|
|
NM_004304.5(ALK):c.1569C>A (p.Thr523=)
|
rs1396066431
|
|
|
NM_004304.5(ALK):c.1571C>G (p.Thr524Ser)
|
rs771205105
|
|
|
NM_004304.5(ALK):c.1571C>T (p.Thr524Ile)
|
|
|
|
NM_004304.5(ALK):c.1572T>C (p.Thr524=)
|
rs1573223096
|
|
|
NM_004304.5(ALK):c.1574A>G (p.Asp525Gly)
|
rs1666896402
|
|
|
NM_004304.5(ALK):c.1575T>C (p.Asp525=)
|
|
|
|
NM_004304.5(ALK):c.1578C>A (p.Val526=)
|
rs1553409325
|
|
|
NM_004304.5(ALK):c.1578C>T (p.Val526=)
|
rs1553409325
|
|
|
NM_004304.5(ALK):c.1579C>A (p.Pro527Thr)
|
|
|
|
NM_004304.5(ALK):c.1579C>G (p.Pro527Ala)
|
|
|
|
NM_004304.5(ALK):c.1579C>T (p.Pro527Ser)
|
|
|
|
NM_004304.5(ALK):c.157A>G (p.Ser53Gly)
|
|
|
|
NM_004304.5(ALK):c.1581C>T (p.Pro527=)
|
rs141720931
|
|
|
NM_004304.5(ALK):c.1583C>T (p.Ala528Val)
|
|
|
|
NM_004304.5(ALK):c.1585T>G (p.Ser529Ala)
|
rs1666895485
|
|
|
NM_004304.5(ALK):c.1588G>C (p.Glu530Gln)
|
rs1558667792
|
|
|
NM_004304.5(ALK):c.1589A>G (p.Glu530Gly)
|
rs1666895159
|
|
|
NM_004304.5(ALK):c.1591A>G (p.Ser531Gly)
|
rs1666895080
|
|
|
NM_004304.5(ALK):c.1593T>G (p.Ser531Arg)
|
rs763979460
|
|
|
NM_004304.5(ALK):c.1597A>G (p.Thr533Ala)
|
|
|
|
NM_004304.5(ALK):c.1598C>T (p.Thr533Ile)
|
|
|
|
NM_004304.5(ALK):c.15G>A (p.Gly5=)
|
rs1667973227
|
|
|
NM_004304.5(ALK):c.1601T>C (p.Val534Ala)
|
rs1573223031
|
|
|
NM_004304.5(ALK):c.1604C>A (p.Thr535Asn)
|
|
|
|
NM_004304.5(ALK):c.1604C>G (p.Thr535Ser)
|
|
|
|
NM_004304.5(ALK):c.1604C>T (p.Thr535Ile)
|
|
|
|
NM_004304.5(ALK):c.1605C>G (p.Thr535=)
|
|
|
|
NM_004304.5(ALK):c.1609G>A (p.Ala537Thr)
|
|
|
|
NM_004304.5(ALK):c.1609G>T (p.Ala537Ser)
|
|
|
|
NM_004304.5(ALK):c.160C>G (p.Leu54Val)
|
|
|
|
NM_004304.5(ALK):c.160C>T (p.Leu54=)
|
rs1023566110
|
|
|
NM_004304.5(ALK):c.1610C>T (p.Ala537Val)
|
|
|
|
NM_004304.5(ALK):c.1613C>A (p.Thr538Lys)
|
|
|
|
NM_004304.5(ALK):c.1614G>A (p.Thr538=)
|
rs374205057
|
|
|
NM_004304.5(ALK):c.1614G>T (p.Thr538=)
|
rs374205057
|
|
|
NM_004304.5(ALK):c.1617T>A (p.Phe539Leu)
|
|
|
|
NM_004304.5(ALK):c.1622C>A (p.Ala541Glu)
|
rs1553409296
|
|
|
NM_004304.5(ALK):c.1622C>T (p.Ala541Val)
|
rs1553409296
|
|
|
NM_004304.5(ALK):c.1625C>G (p.Pro542Arg)
|
|
|
|
NM_004304.5(ALK):c.1626G>A (p.Pro542=)
|
rs143916398
|
|
|
NM_004304.5(ALK):c.1626del (p.Ile543fs)
|
|
|
|
NM_004304.5(ALK):c.1627A>G (p.Ile543Val)
|
|
|
|
NM_004304.5(ALK):c.1628T>A (p.Ile543Asn)
|
rs1666893671
|
|
|
NM_004304.5(ALK):c.1628T>C (p.Ile543Thr)
|
|
|
|
NM_004304.5(ALK):c.1635C>G (p.Ser545Arg)
|
rs1666893501
|
|
|
NM_004304.5(ALK):c.1637C>G (p.Ser546Cys)
|
rs1666893427
|
|
|
NM_004304.5(ALK):c.1638T>G (p.Ser546=)
|
rs2148247965
|
|
|
NM_004304.5(ALK):c.1639C>A (p.Pro547Thr)
|
rs2148247961
|
|
|
NM_004304.5(ALK):c.1639C>G (p.Pro547Ala)
|
rs2148247961
|
|
|
NM_004304.5(ALK):c.1639C>T (p.Pro547Ser)
|
rs2148247961
|
|
|
NM_004304.5(ALK):c.163G>T (p.Ala55Ser)
|
rs1268569052
|
|
|
NM_004304.5(ALK):c.1640C>T (p.Pro547Leu)
|
|
|
|
NM_004304.5(ALK):c.1641A>G (p.Pro547=)
|
rs1488980653
|
|
|
NM_004304.5(ALK):c.1647+10C>T
|
|
|
|
NM_004304.5(ALK):c.1647+11T>C
|
|
|
|
NM_004304.5(ALK):c.1647+11T>G
|
|
|
|
NM_004304.5(ALK):c.1647+12T>C
|
|
|
|
NM_004304.5(ALK):c.1647+12T>G
|
|
|
|
NM_004304.5(ALK):c.1647+13G>T
|
rs2148247887
|
|
|
NM_004304.5(ALK):c.1647+17C>G
|
|
|
|
NM_004304.5(ALK):c.1647+20T>C
|
|
|
|
NM_004304.5(ALK):c.1647+20T>G
|
|
|
|
NM_004304.5(ALK):c.1647+2C>A
|
|
|
|
NM_004304.5(ALK):c.1647+4A>G
|
rs2148247925
|
|
|
NM_004304.5(ALK):c.1647+8T>G
|
|
|
|
NM_004304.5(ALK):c.1648-15T>G
|
rs2148231311
|
|
|
NM_004304.5(ALK):c.1648-16C>G
|
rs759295991
|
|
|
NM_004304.5(ALK):c.1648-18C>T
|
|
|
|
NM_004304.5(ALK):c.1648-1G>A
|
rs1666209215
|
|
|
NM_004304.5(ALK):c.1648-2A>G
|
|
|
|
NM_004304.5(ALK):c.1648-5C>T
|
|
|
|
NM_004304.5(ALK):c.1648-6T>G
|
rs1349124891
|
|
|
NM_004304.5(ALK):c.1648-7C>T
|
rs773367358
|
|
|
NM_004304.5(ALK):c.164C>T (p.Ala55Val)
|
rs1217013970
|
|
|
NM_004304.5(ALK):c.1650C>A (p.Leu550=)
|
rs762374963
|
|
|
NM_004304.5(ALK):c.165A>G (p.Ala55=)
|
|
|
|
NM_004304.5(ALK):c.1662G>A (p.Trp554Ter)
|
rs1573203754
|
|
|
NM_004304.5(ALK):c.1665C>T (p.Leu555=)
|
rs1553406040
|
|
|
NM_004304.5(ALK):c.1666A>C (p.Ile556Leu)
|
|
|
|
NM_004304.5(ALK):c.1668T>C (p.Ile556=)
|
rs780401491
|
|
|
NM_004304.5(ALK):c.1669C>G (p.Arg557Gly)
|
rs200364883
|
|
|
NM_004304.5(ALK):c.1670G>T (p.Arg557Leu)
|
rs200468507
|
|
|
NM_004304.5(ALK):c.1671T>A (p.Arg557=)
|
rs1666207701
|
|
|
NM_004304.5(ALK):c.1675G>A (p.Val559Ile)
|
rs1666207586
|
|
|
NM_004304.5(ALK):c.1676T>A (p.Val559Asp)
|
|
|
|
NM_004304.5(ALK):c.1676T>C (p.Val559Ala)
|
rs2148231259
|
|
|
NM_004304.5(ALK):c.1678T>C (p.Leu560=)
|
|
|
|
NM_004304.5(ALK):c.1679T>G (p.Leu560Trp)
|
|
|
|
NM_004304.5(ALK):c.1679_1680insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTCGTGGAGTCTT (p.Leu560delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
|
NM_004304.5(ALK):c.167T>C (p.Val56Ala)
|
rs2148443759
|
|
|
NM_004304.5(ALK):c.1681A>G (p.Arg561Gly)
|
|
|
|
NM_004304.5(ALK):c.1682G>A (p.Arg561Lys)
|
rs1666207256
|
|
|
NM_004304.5(ALK):c.1682G>C (p.Arg561Thr)
|
rs1666207256
|
|
|
NM_004304.5(ALK):c.1684_1685del (p.Gly562fs)
|
rs1666207064
|
|
|
NM_004304.5(ALK):c.1685G>T (p.Gly562Val)
|
|
|
|
NM_004304.5(ALK):c.1689C>A (p.Asn563Lys)
|
|
|
|
NM_004304.5(ALK):c.1689C>G (p.Asn563Lys)
|
rs565743321
|
|
|
NM_004304.5(ALK):c.1690G>A (p.Val564Met)
|
rs780939762
|
|
|
NM_004304.5(ALK):c.1690G>C (p.Val564Leu)
|
rs780939762
|
|
|
NM_004304.5(ALK):c.1690G>T (p.Val564Leu)
|
|
|
|
NM_004304.5(ALK):c.1693T>A (p.Ser565Thr)
|
|
|
|
NM_004304.5(ALK):c.1698G>A (p.Leu566=)
|
rs1558658399
|
|
|
NM_004304.5(ALK):c.1699G>A (p.Val567Met)
|
rs1553406025
|
|
|
NM_004304.5(ALK):c.1700T>G (p.Val567Gly)
|
rs1666206131
|
|
|
NM_004304.5(ALK):c.1701G>C (p.Val567=)
|
rs1573203701
|
|
|
NM_004304.5(ALK):c.1702C>A (p.Leu568Ile)
|
rs1666205957
|
|
|
NM_004304.5(ALK):c.1702C>T (p.Leu568=)
|
|
|
|
NM_004304.5(ALK):c.1703T>C (p.Leu568Pro)
|
rs1666205873
|
|
|
NM_004304.5(ALK):c.1704A>C (p.Leu568=)
|
rs2148231200
|
|
|
NM_004304.5(ALK):c.1704A>G (p.Leu568=)
|
|
|
|
NM_004304.5(ALK):c.1705G>A (p.Val569Met)
|
rs754971913
|
|
|
NM_004304.5(ALK):c.1706T>C (p.Val569Ala)
|
|
|
|
NM_004304.5(ALK):c.1708G>A (p.Glu570Lys)
|
|
|
|
NM_004304.5(ALK):c.1709A>C (p.Glu570Ala)
|
rs1666205563
|
|
|
NM_004304.5(ALK):c.1710G>T (p.Glu570Asp)
|
rs751328130
|
|
|
NM_004304.5(ALK):c.1713C>G (p.Asn571Lys)
|
rs902275025
|
|
|
NM_004304.5(ALK):c.1713C>T (p.Asn571=)
|
rs902275025
|
|
|
NM_004304.5(ALK):c.1714A>T (p.Lys572Ter)
|
rs2148231179
|
|
|
NM_004304.5(ALK):c.1715A>G (p.Lys572Arg)
|
|
|
|
NM_004304.5(ALK):c.1718C>A (p.Thr573Asn)
|
rs1666205088
|
|
|
NM_004304.5(ALK):c.1718C>T (p.Thr573Ile)
|
rs1666205088
|
|
|
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)
|
rs762358335
|
|
|
NM_004304.5(ALK):c.1722G>A (p.Gly574=)
|
rs1666204709
|
|
|
NM_004304.5(ALK):c.1726G>C (p.Glu576Gln)
|
|
|
|
NM_004304.5(ALK):c.1728G>T (p.Glu576Asp)
|
rs765326883
|
|
|
NM_004304.5(ALK):c.1729C>G (p.Gln577Glu)
|
rs1430381834
|
|
|
NM_004304.5(ALK):c.172T>C (p.Phe58Leu)
|
rs1667965302
|
|
|
NM_004304.5(ALK):c.1733G>T (p.Gly578Val)
|
rs1666203993
|
|
|
NM_004304.5(ALK):c.1734C>T (p.Gly578=)
|
rs1666203885
|
|
|
NM_004304.5(ALK):c.1736G>A (p.Arg579Lys)
|
|
|
|
NM_004304.5(ALK):c.1736G>C (p.Arg579Thr)
|
|
|
|
NM_004304.5(ALK):c.1737G>A (p.Arg579=)
|
rs373833989
|
|
|
NM_004304.5(ALK):c.1737G>T (p.Arg579Ser)
|
|
|
|
NM_004304.5(ALK):c.1738A>G (p.Met580Val)
|
|
|
|
NM_004304.5(ALK):c.1738A>T (p.Met580Leu)
|
|
|
|
NM_004304.5(ALK):c.1741G>A (p.Val581Ile)
|
|
|
|
NM_004304.5(ALK):c.1741G>T (p.Val581Phe)
|
rs1666203352
|
|
|
NM_004304.5(ALK):c.1742T>C (p.Val581Ala)
|
|
|
|
NM_004304.5(ALK):c.1743C>G (p.Val581=)
|
|
|
|
NM_004304.5(ALK):c.1747C>A (p.His583Asn)
|
|
|
|
NM_004304.5(ALK):c.1747C>T (p.His583Tyr)
|
rs1666202984
|
|
|
NM_004304.5(ALK):c.1749T>C (p.His583=)
|
|
|
|
NM_004304.5(ALK):c.1757C>A (p.Ala586Asp)
|
rs1046338903
|
|
|
NM_004304.5(ALK):c.1757C>T (p.Ala586Val)
|
rs1046338903
|
|
|
NM_004304.5(ALK):c.175G>A (p.Val59Met)
|
|
|
|
NM_004304.5(ALK):c.175G>T (p.Val59Leu)
|
rs1553380428
|
|
|
NM_004304.5(ALK):c.1760A>G (p.Tyr587Cys)
|
rs1338200771
|
|
|
NM_004304.5(ALK):c.1760A>T (p.Tyr587Phe)
|
|
|
|
NM_004304.5(ALK):c.1761T>C (p.Tyr587=)
|
rs2148231070
|
|
|
NM_004304.5(ALK):c.1766G>T (p.Gly589Val)
|
rs769505453
|
|
|
NM_004304.5(ALK):c.176T>C (p.Val59Ala)
|
|
|
|
NM_004304.5(ALK):c.1772G>T (p.Ser591Ile)
|
|
|
|
NM_004304.5(ALK):c.1779G>C (p.Trp593Cys)
|
rs2148231055
|
|
|
NM_004304.5(ALK):c.1781A>G (p.Gln594Arg)
|
|
|
|
NM_004304.5(ALK):c.1782G>C (p.Gln594His)
|
rs1573203576
|
|
|
NM_004304.5(ALK):c.1785G>A (p.Trp595Ter)
|
rs2148231045
|
|
|
NM_004304.5(ALK):c.1786A>G (p.Met596Val)
|
|
|
|
NM_004304.5(ALK):c.1789G>A (p.Val597Met)
|
|
|
|
NM_004304.5(ALK):c.1789G>C (p.Val597Leu)
|
|
|
|
NM_004304.5(ALK):c.1789G>T (p.Val597Leu)
|
|
|
|
NM_004304.5(ALK):c.178G>A (p.Val60Met)
|
rs1031804606
|
|
|
NM_004304.5(ALK):c.1790T>C (p.Val597Ala)
|
rs747000305
|
|
|
NM_004304.5(ALK):c.1794G>C (p.Leu598Phe)
|
|
|
|
NM_004304.5(ALK):c.1794G>T (p.Leu598Phe)
|
rs942266375
|
|
|
NM_004304.5(ALK):c.1795C>T (p.Pro599Ser)
|
rs2148231018
|
|
|
NM_004304.5(ALK):c.1798C>T (p.Leu600Phe)
|
rs2148231015
|
|
|
NM_004304.5(ALK):c.1804G>C (p.Asp602His)
|
|
|
|
NM_004304.5(ALK):c.1806T>G (p.Asp602Glu)
|
rs753871185
|
|
|
NM_004304.5(ALK):c.1809G>A (p.Val603=)
|
|
|
|
NM_004304.5(ALK):c.1809G>T (p.Val603=)
|
rs141025125
|
|
|
NM_004304.5(ALK):c.180G>A (p.Val60=)
|
rs1239004394
|
|
|
NM_004304.5(ALK):c.180G>T (p.Val60=)
|
|
|
|
NM_004304.5(ALK):c.1812T>C (p.Ser604=)
|
|
|
|
NM_004304.5(ALK):c.1814A>T (p.Asp605Val)
|
|
|
|
NM_004304.5(ALK):c.1816A>G (p.Arg606Gly)
|
rs1666198944
|
|
|
NM_004304.5(ALK):c.1817+10A>C
|
|
|
|
NM_004304.5(ALK):c.1817+14A>C
|
|
|
|
NM_004304.5(ALK):c.1817+14A>G
|
|
|
|
NM_004304.5(ALK):c.1817+18C>G
|
rs2148230954
|
|
|
NM_004304.5(ALK):c.1817+20C>T
|
rs2148230952
|
|
|
NM_004304.5(ALK):c.1817+3A>G
|
rs2148230980
|
|
|
NM_004304.5(ALK):c.1817+5G>C
|
|
|
|
NM_004304.5(ALK):c.1817+6C>A
|
rs1558658288
|
|
|
NM_004304.5(ALK):c.1817+7T>C
|
rs2148230978
|
|
|
NM_004304.5(ALK):c.1817+8C>G
|
rs371738899
|
|
|
NM_004304.5(ALK):c.1817+9T>A
|
rs1553405983
|
|
|
NM_004304.5(ALK):c.1818-10A>T
|
rs2148215505
|
|
|
NM_004304.5(ALK):c.1818-11G>T
|
|
|
|
NM_004304.5(ALK):c.1818-13T>C
|
|
|
|
NM_004304.5(ALK):c.1818-14C>G
|
|
|
|
NM_004304.5(ALK):c.1818-14C>T
|
|
|
|
NM_004304.5(ALK):c.1818-17C>A
|
rs2148215511
|
|
|
NM_004304.5(ALK):c.1818-1G>A
|
rs1665518836
|
|
|
NM_004304.5(ALK):c.1818-4A>G
|
|
|
|
NM_004304.5(ALK):c.1818-6G>A
|
|
|
|
NM_004304.5(ALK):c.1818G>T (p.Arg606Ser)
|
|
|
|
NM_004304.5(ALK):c.1820T>A (p.Phe607Tyr)
|
rs1304239235
|
|
|
NM_004304.5(ALK):c.1821C>T (p.Phe607=)
|
|
|
|
NM_004304.5(ALK):c.1824G>C (p.Trp608Cys)
|
|
|
|
NM_004304.5(ALK):c.1825C>G (p.Leu609Val)
|
rs1665518534
|
|
|
NM_004304.5(ALK):c.1828C>T (p.Gln610Ter)
|
|
|
|
NM_004304.5(ALK):c.1829A>G (p.Gln610Arg)
|
|
|
|
NM_004304.5(ALK):c.182C>T (p.Pro61Leu)
|
|
|
|
NM_004304.5(ALK):c.1830G>C (p.Gln610His)
|
|
|
|
NM_004304.5(ALK):c.1831A>T (p.Met611Leu)
|
|
|
|
NM_004304.5(ALK):c.1833G>C (p.Met611Ile)
|
|
|
|
NM_004304.5(ALK):c.1833G>T (p.Met611Ile)
|
rs1302907379
|
|
|
NM_004304.5(ALK):c.1834G>A (p.Val612Ile)
|
rs1431784023
|
|
|
NM_004304.5(ALK):c.1835T>C (p.Val612Ala)
|
|
|
|
NM_004304.5(ALK):c.1837G>C (p.Ala613Pro)
|
|
|
|
NM_004304.5(ALK):c.1837G>T (p.Ala613Ser)
|
|
|
|
NM_004304.5(ALK):c.183C>G (p.Pro61=)
|
|
|
|
NM_004304.5(ALK):c.183C>T (p.Pro61=)
|
|
|
|
NM_004304.5(ALK):c.1840T>G (p.Trp614Gly)
|
|
|
|
NM_004304.5(ALK):c.1841G>C (p.Trp614Ser)
|
|
|
|
NM_004304.5(ALK):c.1841G>T (p.Trp614Leu)
|
rs760038434
|
|
|
NM_004304.5(ALK):c.1842G>A (p.Trp614Ter)
|
|
|
|
NM_004304.5(ALK):c.1843T>A (p.Trp615Arg)
|
rs774517608
|
|
|
NM_004304.5(ALK):c.1843T>G (p.Trp615Gly)
|
rs774517608
|
|
|
NM_004304.5(ALK):c.1844G>T (p.Trp615Leu)
|
rs1665517386
|
|
|
NM_004304.5(ALK):c.1845G>A (p.Trp615Ter)
|
rs2148215455
|
|
|
NM_004304.5(ALK):c.1849C>A (p.Gln617Lys)
|
rs2148215449
|
|
|
NM_004304.5(ALK):c.1849C>T (p.Gln617Ter)
|
|
|
|
NM_004304.5(ALK):c.184T>C (p.Ser62Pro)
|
|
|
|
NM_004304.5(ALK):c.1852G>A (p.Gly618Arg)
|
rs1573183907
|
|
|
NM_004304.5(ALK):c.1853G>A (p.Gly618Glu)
|
rs766821017
|
|
|
NM_004304.5(ALK):c.1853G>C (p.Gly618Ala)
|
|
|
|
NM_004304.5(ALK):c.1857C>T (p.Ser619=)
|
rs1476212862
|
|
|
NM_004304.5(ALK):c.1859G>C (p.Arg620Thr)
|
rs1665516911
|
|
|
NM_004304.5(ALK):c.185C>G (p.Ser62Trp)
|
|
|
|
NM_004304.5(ALK):c.185C>T (p.Ser62Leu)
|
rs1572503765
|
|
|
NM_004304.5(ALK):c.1863C>T (p.Ala621=)
|
|
|
|
NM_004304.5(ALK):c.1864A>G (p.Ile622Val)
|
|
|
|
NM_004304.5(ALK):c.1864A>T (p.Ile622Phe)
|
|
|
|
NM_004304.5(ALK):c.1865T>C (p.Ile622Thr)
|
rs1665516730
|
|
|
NM_004304.5(ALK):c.1868T>C (p.Val623Ala)
|
|
|
|
NM_004304.5(ALK):c.1869G>A (p.Val623=)
|
|
|
|
NM_004304.5(ALK):c.186G>A (p.Ser62=)
|
|
|
|
NM_004304.5(ALK):c.186G>T (p.Ser62=)
|
|
|
|
NM_004304.5(ALK):c.1870G>C (p.Ala624Pro)
|
rs1665516398
|
|
|
NM_004304.5(ALK):c.1871C>T (p.Ala624Val)
|
rs906659904
|
|
|
NM_004304.5(ALK):c.1872T>C (p.Ala624=)
|
rs1573183882
|
|
|
NM_004304.5(ALK):c.1874T>C (p.Phe625Ser)
|
rs760213029
|
|
|
NM_004304.5(ALK):c.1875T>G (p.Phe625Leu)
|
rs1553402765
|
|
|
NM_004304.5(ALK):c.1879A>G (p.Asn627Asp)
|
|
|
|
NM_004304.5(ALK):c.187C>T (p.Leu63Phe)
|
|
|
|
NM_004304.5(ALK):c.1880A>G (p.Asn627Ser)
|
rs1025380501
|
|
|
NM_004304.5(ALK):c.1884C>T (p.Ile628=)
|
rs1208681809
|
|
|
NM_004304.5(ALK):c.1885T>C (p.Ser629Pro)
|
|
|
|
NM_004304.5(ALK):c.1887C>T (p.Ser629=)
|
rs2148215413
|
|
|
NM_004304.5(ALK):c.1889T>A (p.Ile630Asn)
|
|
|
|
NM_004304.5(ALK):c.1890C>A (p.Ile630=)
|
rs1278070199
|
|
|
NM_004304.5(ALK):c.1890C>T (p.Ile630=)
|
rs1278070199
|
|
|
NM_004304.5(ALK):c.1892G>A (p.Ser631Asn)
|
rs1665515584
|
|
|
NM_004304.5(ALK):c.1893C>T (p.Ser631=)
|
|
|
|
NM_004304.5(ALK):c.1899C>T (p.Asp633=)
|
|
|
|
NM_004304.5(ALK):c.189C>A (p.Leu63=)
|
rs1298548615
|
|
|
NM_004304.5(ALK):c.189C>T (p.Leu63=)
|
rs1298548615
|
|
|
NM_004304.5(ALK):c.18C>A (p.Leu6=)
|
|
|
|
NM_004304.5(ALK):c.18C>T (p.Leu6=)
|
|
|
|
NM_004304.5(ALK):c.1902C>G (p.Cys634Trp)
|
rs1215374113
|
|
|
NM_004304.5(ALK):c.1902C>T (p.Cys634=)
|
|
|
|
NM_004304.5(ALK):c.1904A>G (p.Tyr635Cys)
|
|
|
|
NM_004304.5(ALK):c.1907T>C (p.Leu636Pro)
|
|
|
|
NM_004304.5(ALK):c.1910C>G (p.Thr637Ser)
|
|
|
|
NM_004304.5(ALK):c.1911C>T (p.Thr637=)
|
rs1553402750
|
|
|
NM_004304.5(ALK):c.1912+10C>T
|
rs2148215381
|
|
|
NM_004304.5(ALK):c.1912+12C>T
|
|
|
|
NM_004304.5(ALK):c.1912+15A>C
|
rs2148215373
|
|
|
NM_004304.5(ALK):c.1912+15A>T
|
|
|
|
NM_004304.5(ALK):c.1912+17C>T
|
|
|
|
NM_004304.5(ALK):c.1912+18C>G
|
|
|
|
NM_004304.5(ALK):c.1912+19del
|
|
|
|
NM_004304.5(ALK):c.1912+1del
|
|
|
|
NM_004304.5(ALK):c.1913-10T>C
|
rs2148215204
|
|
|
NM_004304.5(ALK):c.1913-15T>C
|
|
|
|
NM_004304.5(ALK):c.1913-16G>A
|
rs760419450
|
|
|
NM_004304.5(ALK):c.1913-20T>G
|
|
|
|
NM_004304.5(ALK):c.1913-2A>C
|
|
|
|
NM_004304.5(ALK):c.1913-4_1913-3delinsAA
|
|
|
|
NM_004304.5(ALK):c.1914T>A (p.Ile638=)
|
rs2148215193
|
|
|
NM_004304.5(ALK):c.1918G>T (p.Gly640Ter)
|
|
|
|
NM_004304.5(ALK):c.1923G>T (p.Glu641Asp)
|
rs1665503142
|
|
|
NM_004304.5(ALK):c.1924G>A (p.Asp642Asn)
|
rs1573183654
|
|
|
NM_004304.5(ALK):c.1926C>A (p.Asp642Glu)
|
rs2148215171
|
|
|
NM_004304.5(ALK):c.1928A>C (p.Lys643Thr)
|
|
|
|
NM_004304.5(ALK):c.1929G>T (p.Lys643Asn)
|
|
|
|
NM_004304.5(ALK):c.192C>G (p.Phe64Leu)
|
rs376663390
|
|
|
NM_004304.5(ALK):c.1930A>G (p.Ile644Val)
|
|
|
|
NM_004304.5(ALK):c.1931T>C (p.Ile644Thr)
|
|
|
|
NM_004304.5(ALK):c.1931T>G (p.Ile644Ser)
|
rs774398992
|
|
|
NM_004304.5(ALK):c.1932C>T (p.Ile644=)
|
rs2148215167
|
|
|
NM_004304.5(ALK):c.1933C>T (p.Leu645=)
|
rs770797778
|
|
|
NM_004304.5(ALK):c.1937A>G (p.Gln646Arg)
|
rs1311437200
|
|
|
NM_004304.5(ALK):c.193C>A (p.Arg65Ser)
|
|
|
|
NM_004304.5(ALK):c.193C>T (p.Arg65Cys)
|
rs1343353214
|
|
|
NM_004304.5(ALK):c.193del (p.Arg65fs)
|
rs2148443715
|
|
|
NM_004304.5(ALK):c.1942A>G (p.Thr648Ala)
|
|
|
|
NM_004304.5(ALK):c.1943C>A (p.Thr648Lys)
|
|
|
|
NM_004304.5(ALK):c.1949C>T (p.Pro650Leu)
|
|
|
|
NM_004304.5(ALK):c.194G>A (p.Arg65His)
|
|
|
|
NM_004304.5(ALK):c.194G>T (p.Arg65Leu)
|
|
|
|
NM_004304.5(ALK):c.1950C>G (p.Pro650=)
|
|
|
|
NM_004304.5(ALK):c.1954T>C (p.Ser652Pro)
|
rs2148215120
|
|
|
NM_004304.5(ALK):c.1962C>G (p.Asn654Lys)
|
|
|
|
NM_004304.5(ALK):c.1963C>G (p.Leu655Val)
|
|
|
|
NM_004304.5(ALK):c.1965G>A (p.Leu655=)
|
|
|
|
NM_004304.5(ALK):c.1969G>C (p.Glu657Gln)
|
|
|
|
NM_004304.5(ALK):c.1970A>G (p.Glu657Gly)
|
|
|
|
NM_004304.5(ALK):c.1977C>A (p.Asn659Lys)
|
rs780562062
|
|
|
NM_004304.5(ALK):c.1977C>G (p.Asn659Lys)
|
rs780562062
|
|
|
NM_004304.5(ALK):c.1979C>A (p.Pro660Gln)
|
|
|
|
NM_004304.5(ALK):c.1980A>C (p.Pro660=)
|
rs1665501060
|
|
|
NM_004304.5(ALK):c.1980A>G (p.Pro660=)
|
|
|
|
NM_004304.5(ALK):c.1983C>T (p.Asn661=)
|
|
|
|
NM_004304.5(ALK):c.1988A>C (p.Glu663Ala)
|
|
|
|
NM_004304.5(ALK):c.1989G>A (p.Glu663=)
|
|
|
|
NM_004304.5(ALK):c.1989G>C (p.Glu663Asp)
|
|
|
|
NM_004304.5(ALK):c.1989G>T (p.Glu663Asp)
|
rs760401344
|
|
|
NM_004304.5(ALK):c.198C>G (p.Val66=)
|
|
|
|
NM_004304.5(ALK):c.198C>T (p.Val66=)
|
rs2148443705
|
|
|
NM_004304.5(ALK):c.1990C>A (p.Leu664Met)
|
|
|
|
NM_004304.5(ALK):c.1992G>A (p.Leu664=)
|
|
|
|
NM_004304.5(ALK):c.1996C>G (p.Pro666Ala)
|
|
|
|
NM_004304.5(ALK):c.1996C>T (p.Pro666Ser)
|
rs752439739
|
|
|
NM_004304.5(ALK):c.19del (p.Leu7fs)
|
|
|
|
NM_004304.5(ALK):c.1A>T (p.Met1Leu)
|
rs1202047396
|
|
|
NM_004304.5(ALK):c.2000G>A (p.Gly667Glu)
|
rs1665499933
|
|
|
NM_004304.5(ALK):c.2000G>C (p.Gly667Ala)
|
|
|
|
NM_004304.5(ALK):c.2005A>T (p.Asn669Tyr)
|
|
|
|
NM_004304.5(ALK):c.2006A>G (p.Asn669Ser)
|
rs149640902
|
|
|
NM_004304.5(ALK):c.2009C>T (p.Ser670Leu)
|
|
|
|
NM_004304.5(ALK):c.2011C>A (p.Pro671Thr)
|
rs145780832
|
|
|
NM_004304.5(ALK):c.2013A>G (p.Pro671=)
|
rs2148214996
|
|
|
NM_004304.5(ALK):c.2014A>G (p.Arg672Gly)
|
|
|
|
NM_004304.5(ALK):c.2018A>C (p.Gln673Pro)
|
|
|
|
NM_004304.5(ALK):c.2018A>G (p.Gln673Arg)
|
rs762808842
|
|
|
NM_004304.5(ALK):c.201C>A (p.Tyr67Ter)
|
|
|
|
NM_004304.5(ALK):c.201C>G (p.Tyr67Ter)
|
|
|
|
NM_004304.5(ALK):c.201C>T (p.Tyr67=)
|
rs1434101448
|
|
|
NM_004304.5(ALK):c.2021C>A (p.Thr674Asn)
|
rs1178181097
|
|
|
NM_004304.5(ALK):c.2022C>A (p.Thr674=)
|
|
|
|
NM_004304.5(ALK):c.2022C>G (p.Thr674=)
|
|
|
|
NM_004304.5(ALK):c.2022C>T (p.Thr674=)
|
rs1573183477
|
|
|
NM_004304.5(ALK):c.2025del (p.Ile676fs)
|
rs35670445
|
|
|
NM_004304.5(ALK):c.2026A>T (p.Ile676Phe)
|
|
|
|
NM_004304.5(ALK):c.2028C>A (p.Ile676=)
|
|
|
|
NM_004304.5(ALK):c.202G>C (p.Ala68Pro)
|
rs1414978905
|
|
|
NM_004304.5(ALK):c.2032G>A (p.Asp678Asn)
|
rs892131322
|
|
|
NM_004304.5(ALK):c.2032G>C (p.Asp678His)
|
rs892131322
|
|
|
NM_004304.5(ALK):c.2032G>T (p.Asp678Tyr)
|
rs892131322
|
|
|
NM_004304.5(ALK):c.2036C>A (p.Pro679His)
|
|
|
|
NM_004304.5(ALK):c.2036C>G (p.Pro679Arg)
|
rs1558648699
|
|
|
NM_004304.5(ALK):c.2036C>T (p.Pro679Leu)
|
rs1558648699
|
|
|
NM_004304.5(ALK):c.2041+10C>T
|
|
|
|
NM_004304.5(ALK):c.2041+12G>A
|
rs2148214937
|
|
|
NM_004304.5(ALK):c.2041+13C>T
|
rs1293978616
|
|
|
NM_004304.5(ALK):c.2041+14T>G
|
rs2148214935
|
|
|
NM_004304.5(ALK):c.2041+17C>G
|
|
|
|
NM_004304.5(ALK):c.2041+19A>G
|
|
|
|
NM_004304.5(ALK):c.2041+19_2041+30del
|
rs2148214920
|
|
|
NM_004304.5(ALK):c.2041+2T>C
|
rs2148214956
|
|
|
NM_004304.5(ALK):c.2041+5G>T
|
|
|
|
NM_004304.5(ALK):c.2041+6G>A
|
|
|
|
NM_004304.5(ALK):c.2041+6G>T
|
|
|
|
NM_004304.5(ALK):c.2041+8T>C
|
rs1573183399
|
|
|
NM_004304.5(ALK):c.2041+9del
|
rs2148214942
|
|
|
NM_004304.5(ALK):c.2041G>A (p.Val681Ile)
|
rs1665497617
|
|
|
NM_004304.5(ALK):c.2041G>C (p.Val681Leu)
|
rs1665497617
|
|
|
NM_004304.5(ALK):c.2042-10T>C
|
rs2148197746
|
|
|
NM_004304.5(ALK):c.2042-12C>T
|
|
|
|
NM_004304.5(ALK):c.2042-13T>C
|
|
|
|
NM_004304.5(ALK):c.2042-15C>T
|
|
|
|
NM_004304.5(ALK):c.2042-18T>C
|
rs2148197773
|
|
|
NM_004304.5(ALK):c.2042-19C>G
|
|
|
|
NM_004304.5(ALK):c.2042-65_2074delinsTCTGA
|
|
|
|
NM_004304.5(ALK):c.2042-9G>A
|
rs1553399134
|
|
|
NM_004304.5(ALK):c.2042-9G>C
|
rs1553399134
|
|
|
NM_004304.5(ALK):c.2044C>A (p.His682Asn)
|
|
|
|
NM_004304.5(ALK):c.2044C>T (p.His682Tyr)
|
|
|
|
NM_004304.5(ALK):c.2046T>C (p.His682=)
|
|
|
|
NM_004304.5(ALK):c.204C>T (p.Ala68=)
|
|
|
|
NM_004304.5(ALK):c.2050C>A (p.Leu684Met)
|
rs1664810025
|
|
|
NM_004304.5(ALK):c.2052G>A (p.Leu684=)
|
|
|
|
NM_004304.5(ALK):c.2052G>C (p.Leu684=)
|
rs1664809971
|
|
|
NM_004304.5(ALK):c.2055C>T (p.Phe685=)
|
|
|
|
NM_004304.5(ALK):c.2055CAC[1] (p.Thr687del)
|
rs2148197659
|
|
|
NM_004304.5(ALK):c.205C>A (p.Arg69=)
|
|
|
|
NM_004304.5(ALK):c.205C>T (p.Arg69Trp)
|
rs1052259770
|
|
|
NM_004304.5(ALK):c.2061A>G (p.Thr687=)
|
rs1216551906
|
|
|
NM_004304.5(ALK):c.2061_2062del (p.Cys688fs)
|
|
|
|
NM_004304.5(ALK):c.2065G>A (p.Gly689Arg)
|
rs1664809619
|
|
|
NM_004304.5(ALK):c.2065G>C (p.Gly689Arg)
|
rs1664809619
|
|
|
NM_004304.5(ALK):c.2068G>A (p.Ala690Thr)
|
rs375105843
|
|
|
NM_004304.5(ALK):c.206G>T (p.Arg69Leu)
|
|
|
|
NM_004304.5(ALK):c.2073C>A (p.Ser691Arg)
|
rs370435082
|
|
|
NM_004304.5(ALK):c.2073C>G (p.Ser691Arg)
|
rs370435082
|
|
|
NM_004304.5(ALK):c.2073C>T (p.Ser691=)
|
rs370435082
|
|
|
NM_004304.5(ALK):c.2075G>A (p.Gly692Glu)
|
|
|
|
NM_004304.5(ALK):c.2076G>C (p.Gly692=)
|
rs1573160699
|
|
|
NM_004304.5(ALK):c.2076G>T (p.Gly692=)
|
rs1573160699
|
|
|
NM_004304.5(ALK):c.2076_2077insT (p.Pro693fs)
|
|
|
|
NM_004304.5(ALK):c.2078C>T (p.Pro693Leu)
|
rs2148197596
|
|
|
NM_004304.5(ALK):c.2079C>T (p.Pro693=)
|
rs1573160689
|
|
|
NM_004304.5(ALK):c.207G>A (p.Arg69=)
|
rs1553380407
|
|
|
NM_004304.5(ALK):c.2082T>C (p.His694=)
|
rs746356545
|
|
|
NM_004304.5(ALK):c.2083G>T (p.Gly695Cys)
|
|
|
|
NM_004304.5(ALK):c.2085C>G (p.Gly695=)
|
|
|
|
NM_004304.5(ALK):c.2086C>A (p.Pro696Thr)
|
rs1664808733
|
|
|
NM_004304.5(ALK):c.2089A>T (p.Thr697Ser)
|
|
|
|
NM_004304.5(ALK):c.2090C>A (p.Thr697Asn)
|
rs1339495215
|
|
|
NM_004304.5(ALK):c.2091C>A (p.Thr697=)
|
rs1252650401
|
|
|
NM_004304.5(ALK):c.2093A>G (p.Gln698Arg)
|
rs2148197557
|
|
|
NM_004304.5(ALK):c.2095G>A (p.Ala699Thr)
|
|
|
|
NM_004304.5(ALK):c.2096C>T (p.Ala699Val)
|
|
|
|
NM_004304.5(ALK):c.2099A>G (p.Gln700Arg)
|
rs1664808216
|
|
|
NM_004304.5(ALK):c.2099dup (p.Cys701fs)
|
|
|
|
NM_004304.5(ALK):c.209A>C (p.Asp70Ala)
|
|
|
|
NM_004304.5(ALK):c.20T>C (p.Leu7Pro)
|
rs1351584977
|
|
|
NM_004304.5(ALK):c.2105A>G (p.Asn702Ser)
|
|
|
|
NM_004304.5(ALK):c.210C>T (p.Asp70=)
|
rs1572503722
|
|
|
NM_004304.5(ALK):c.2110G>T (p.Ala704Ser)
|
|
|
|
NM_004304.5(ALK):c.2115C>T (p.Tyr705=)
|
|
|
|
NM_004304.5(ALK):c.2116C>T (p.Gln706Ter)
|
|
|
|
NM_004304.5(ALK):c.2117A>G (p.Gln706Arg)
|
rs1664807502
|
|
|
NM_004304.5(ALK):c.2124C>T (p.Ser708=)
|
|
|
|
NM_004304.5(ALK):c.2126A>G (p.Asn709Ser)
|
rs1573160589
|
|
|
NM_004304.5(ALK):c.2128C>A (p.Leu710Met)
|
|
|
|
NM_004304.5(ALK):c.2129T>G (p.Leu710Arg)
|
rs1664807217
|
|
|
NM_004304.5(ALK):c.2131A>G (p.Ser711Gly)
|
rs1166188112
|
|
|
NM_004304.5(ALK):c.2132G>A (p.Ser711Asn)
|
|
|
|
NM_004304.5(ALK):c.2133C>G (p.Ser711Arg)
|
|
|
|
NM_004304.5(ALK):c.2134G>T (p.Val712Leu)
|
rs78723472
|
|
|
NM_004304.5(ALK):c.2136G>A (p.Val712=)
|
|
|
|
NM_004304.5(ALK):c.2136G>T (p.Val712=)
|
rs375095655
|
|
|
NM_004304.5(ALK):c.2137G>C (p.Glu713Gln)
|
|
|
|
NM_004304.5(ALK):c.213A>C (p.Leu71=)
|
rs774033636
|
|
|
NM_004304.5(ALK):c.2140G>A (p.Val714Met)
|
|
|
|
NM_004304.5(ALK):c.2142G>A (p.Val714=)
|
rs2148197393
|
|
|
NM_004304.5(ALK):c.2143G>A (p.Gly715Arg)
|
|
|
|
NM_004304.5(ALK):c.2145G>A (p.Gly715=)
|
|
|
|
NM_004304.5(ALK):c.2147G>T (p.Ser716Ile)
|
rs2148197375
|
|
|
NM_004304.5(ALK):c.2149G>C (p.Glu717Gln)
|
|
|
|
NM_004304.5(ALK):c.2151G>A (p.Glu717=)
|
|
|
|
NM_004304.5(ALK):c.2152G>C (p.Gly718Arg)
|
rs1664805998
|
|
|
NM_004304.5(ALK):c.2153G>A (p.Gly718Asp)
|
rs1573160519
|
|
|
NM_004304.5(ALK):c.2153del (p.Gly718fs)
|
rs2148197344
|
|
|
NM_004304.5(ALK):c.2154C>A (p.Gly718=)
|
rs1573160513
|
|
|
NM_004304.5(ALK):c.2154C>T (p.Gly718=)
|
rs1573160513
|
|
|
NM_004304.5(ALK):c.2155C>A (p.Pro719Thr)
|
rs759652463
|
|
|
NM_004304.5(ALK):c.2155C>T (p.Pro719Ser)
|
rs759652463
|
|
|
NM_004304.5(ALK):c.2156C>T (p.Pro719Leu)
|
|
|
|
NM_004304.5(ALK):c.2157C>T (p.Pro719=)
|
|
|
|
NM_004304.5(ALK):c.2158C>A (p.Leu720Met)
|
|
|
|
NM_004304.5(ALK):c.2158C>T (p.Leu720=)
|
rs774579604
|
|
|
NM_004304.5(ALK):c.2159T>A (p.Leu720Gln)
|
rs1336406369
|
|
|
NM_004304.5(ALK):c.2159del (p.Leu720fs)
|
rs2148197328
|
|
|
NM_004304.5(ALK):c.2164G>C (p.Gly722Arg)
|
rs1573160483
|
|
|
NM_004304.5(ALK):c.2165G>C (p.Gly722Ala)
|
rs140527448
|
|
|
NM_004304.5(ALK):c.216G>A (p.Leu72=)
|
|
|
|
NM_004304.5(ALK):c.216G>T (p.Leu72=)
|
rs2148443679
|
|
|
NM_004304.5(ALK):c.2172G>T (p.Gln724His)
|
rs771511785
|
|
|
NM_004304.5(ALK):c.2175C>A (p.Ile725=)
|
|
|
|
NM_004304.5(ALK):c.2177G>A (p.Trp726Ter)
|
rs1573160453
|
|
|
NM_004304.5(ALK):c.2178G>A (p.Trp726Ter)
|
|
|
|
NM_004304.5(ALK):c.2183_2184insCTGGTG (p.Val728_Pro729insTrpTrp)
|
|
|
|
NM_004304.5(ALK):c.2184G>A (p.Val728=)
|
|
|
|
NM_004304.5(ALK):c.2184G>T (p.Val728=)
|
|
|
|
NM_004304.5(ALK):c.2185C>G (p.Pro729Ala)
|
rs2148197245
|
|
|
NM_004304.5(ALK):c.2188G>A (p.Ala730Thr)
|
rs1664804373
|
|
|
NM_004304.5(ALK):c.2190C>T (p.Ala730=)
|
rs2148197228
|
|
|
NM_004304.5(ALK):c.2191A>G (p.Thr731Ala)
|
rs1664804307
|
|
|
NM_004304.5(ALK):c.2192C>A (p.Thr731Asn)
|
rs1664804232
|
|
|
NM_004304.5(ALK):c.2192C>G (p.Thr731Ser)
|
|
|
|
NM_004304.5(ALK):c.2193C>A (p.Thr731=)
|
rs56017149
|
|
|
NM_004304.5(ALK):c.2193C>G (p.Thr731=)
|
rs56017149
|
|
|
NM_004304.5(ALK):c.2196C>T (p.Asp732=)
|
|
|
|
NM_004304.5(ALK):c.2199C>G (p.Thr733=)
|
rs1475364383
|
|
|
NM_004304.5(ALK):c.2199C>T (p.Thr733=)
|
rs1475364383
|
|
|
NM_004304.5(ALK):c.219G>A (p.Leu73=)
|
|
|
|
NM_004304.5(ALK):c.21G>C (p.Leu7=)
|
rs1000240288
|
|
|
NM_004304.5(ALK):c.2200T>G (p.Tyr734Asp)
|
|
|
|
NM_004304.5(ALK):c.2202C>T (p.Tyr734=)
|
|
|
|
NM_004304.5(ALK):c.2204+12A>G
|
|
|
|
NM_004304.5(ALK):c.2204+13G>A
|
|
|
|
NM_004304.5(ALK):c.2204+14A>T
|
rs778407286
|
|
|
NM_004304.5(ALK):c.2204+14del
|
|
|
|
NM_004304.5(ALK):c.2204+15G>A
|
rs200910314
|
|
|
NM_004304.5(ALK):c.2204+15G>T
|
|
|
|
NM_004304.5(ALK):c.2204+16G>A
|
|
|
|
NM_004304.5(ALK):c.2204+16G>T
|
|
|
|
NM_004304.5(ALK):c.2204+18G>T
|
|
|
|
NM_004304.5(ALK):c.2204+19G>A
|
rs935722256
|
|
|
NM_004304.5(ALK):c.2204+19G>C
|
rs935722256
|
|
|
NM_004304.5(ALK):c.2204+20A>G
|
rs1467208566
|
|
|
NM_004304.5(ALK):c.2204+3G>A
|
|
|
|
NM_004304.5(ALK):c.2204+4C>A
|
rs201806531
|
|
|
NM_004304.5(ALK):c.2204+4C>G
|
rs201806531
|
|
|
NM_004304.5(ALK):c.2204+5G>C
|
rs367892725
|
|
|
NM_004304.5(ALK):c.2204+7A>C
|
|
|
|
NM_004304.5(ALK):c.2204+8T>A
|
rs758076491
|
|
|
NM_004304.5(ALK):c.2204+9G>A
|
rs2148197166
|
|
|
NM_004304.5(ALK):c.2205-10C>T
|
rs2148188916
|
|
|
NM_004304.5(ALK):c.2205-13T>C
|
|
|
|
NM_004304.5(ALK):c.2205-15T>G
|
|
|
|
NM_004304.5(ALK):c.2205-17T>C
|
rs2148188920
|
|
|
NM_004304.5(ALK):c.2205-19G>A
|
rs757410904
|
|
|
NM_004304.5(ALK):c.2205-20C>A
|
|
|
|
NM_004304.5(ALK):c.2205-2A>T
|
rs1664477879
|
|
|
NM_004304.5(ALK):c.2205-3C>T
|
|
|
|
NM_004304.5(ALK):c.2205-5T>G
|
|
|
|
NM_004304.5(ALK):c.2205-8C>G
|
rs2148188914
|
|
|
NM_004304.5(ALK):c.2205-9C>G
|
rs1046349000
|
|
|
NM_004304.5(ALK):c.2205C>T (p.Ser735=)
|
rs2148188901
|
|
|
NM_004304.5(ALK):c.2207T>C (p.Ile736Thr)
|
rs2148188895
|
|
|
NM_004304.5(ALK):c.220C>A (p.Pro74Thr)
|
|
|
|
NM_004304.5(ALK):c.2211G>C (p.Ser737=)
|
|
|
|
NM_004304.5(ALK):c.2211G>T (p.Ser737=)
|
rs755251302
|
|
|
NM_004304.5(ALK):c.2212G>A (p.Gly738Ser)
|
rs1375509946
|
|
|
NM_004304.5(ALK):c.2213G>C (p.Gly738Ala)
|
|
|
|
NM_004304.5(ALK):c.2213G>T (p.Gly738Val)
|
|
|
|
NM_004304.5(ALK):c.2217C>A (p.Tyr739Ter)
|
rs141858653
|
|
|
NM_004304.5(ALK):c.2218G>C (p.Gly740Arg)
|
rs766541301
|
|
|
NM_004304.5(ALK):c.221C>G (p.Pro74Arg)
|
rs1187464179
|
|
|
NM_004304.5(ALK):c.2222C>G (p.Ala741Gly)
|
rs1664477105
|
|
|
NM_004304.5(ALK):c.2229C>A (p.Gly743=)
|
|
|
|
NM_004304.5(ALK):c.222A>G (p.Pro74=)
|
rs770659336
|
|
|
NM_004304.5(ALK):c.2230G>A (p.Gly744Arg)
|
rs1168161055
|
|
|
NM_004304.5(ALK):c.2235A>G (p.Lys745=)
|
rs2148188842
|
|
|
NM_004304.5(ALK):c.2235_2243dup (p.Lys748_Asn749insGlyGlyLys)
|
|
|
|
NM_004304.5(ALK):c.2236G>A (p.Gly746Ser)
|
rs1553397495
|
|
|
NM_004304.5(ALK):c.2238C>G (p.Gly746=)
|
|
|
|
NM_004304.5(ALK):c.2240G>A (p.Gly747Glu)
|
|
|
|
NM_004304.5(ALK):c.2242A>C (p.Lys748Gln)
|
|
|
|
NM_004304.5(ALK):c.2243A>G (p.Lys748Arg)
|
rs1558633442
|
|
|
NM_004304.5(ALK):c.2244G>A (p.Lys748=)
|
rs1192824871
|
|
|
NM_004304.5(ALK):c.2247C>T (p.Asn749=)
|
rs2148188824
|
|
|
NM_004304.5(ALK):c.2248A>G (p.Thr750Ala)
|
|
|
|
NM_004304.5(ALK):c.2249C>A (p.Thr750Asn)
|
|
|
|
NM_004304.5(ALK):c.224C>A (p.Pro75Gln)
|
rs1667963680
|
|
|
NM_004304.5(ALK):c.224C>T (p.Pro75Leu)
|
rs1667963680
|
|
|
NM_004304.5(ALK):c.2250C>T (p.Thr750=)
|
rs2148188823
|
|
|
NM_004304.5(ALK):c.2251A>G (p.Met751Val)
|
|
|
|
NM_004304.5(ALK):c.2251A>T (p.Met751Leu)
|
|
|
|
NM_004304.5(ALK):c.2252T>A (p.Met751Lys)
|
|
|
|
NM_004304.5(ALK):c.2257C>G (p.Arg753Gly)
|
rs745499366
|
|
|
NM_004304.5(ALK):c.2257C>T (p.Arg753Trp)
|
rs745499366
|
|
|
NM_004304.5(ALK):c.2258G>T (p.Arg753Leu)
|
|
|
|
NM_004304.5(ALK):c.2260T>A (p.Ser754Thr)
|
rs1278118769
|
|
|
NM_004304.5(ALK):c.2262C>T (p.Ser754=)
|
|
|
|
NM_004304.5(ALK):c.2262_2273del (p.His755_Ser758del)
|
|
|
|
NM_004304.5(ALK):c.2264A>G (p.His755Arg)
|
|
|
|
NM_004304.5(ALK):c.2265C>A (p.His755Gln)
|
|
|
|
NM_004304.5(ALK):c.2269G>C (p.Val757Leu)
|
|
|
|
NM_004304.5(ALK):c.2269G>T (p.Val757Leu)
|
rs371005946
|
|
|
NM_004304.5(ALK):c.2270T>C (p.Val757Ala)
|
rs781098925
|
|
|
NM_004304.5(ALK):c.2272T>A (p.Ser758Thr)
|
|
|
|
NM_004304.5(ALK):c.2276T>G (p.Val759Gly)
|
rs1664474690
|
|
|
NM_004304.5(ALK):c.227C>G (p.Ser76Cys)
|
rs2148443665
|
|
|
NM_004304.5(ALK):c.2280G>A (p.Leu760=)
|
rs2148188760
|
|
|
NM_004304.5(ALK):c.2280G>C (p.Leu760=)
|
rs2148188760
|
|
|
NM_004304.5(ALK):c.2281G>A (p.Gly761Ser)
|
rs1664474572
|
|
|
NM_004304.5(ALK):c.2283C>T (p.Gly761=)
|
rs1411353677
|
|
|
NM_004304.5(ALK):c.2284A>G (p.Ile762Val)
|
rs751419856
|
|
|
NM_004304.5(ALK):c.2285T>A (p.Ile762Asn)
|
rs1169776576
|
|
|
NM_004304.5(ALK):c.2286C>G (p.Ile762Met)
|
rs1664474290
|
|
|
NM_004304.5(ALK):c.2287T>G (p.Phe763Val)
|
|
|
|
NM_004304.5(ALK):c.228C>T (p.Ser76=)
|
|
|
|
NM_004304.5(ALK):c.2291A>G (p.Asn764Ser)
|
|
|
|
NM_004304.5(ALK):c.2298G>A (p.Glu766=)
|
|
|
|
NM_004304.5(ALK):c.2300A>G (p.Lys767Arg)
|
|
|
|
NM_004304.5(ALK):c.2301G>A (p.Lys767=)
|
rs2148188733
|
|
|
NM_004304.5(ALK):c.2302G>C (p.Asp768His)
|
|
|
|
NM_004304.5(ALK):c.2303A>G (p.Asp768Gly)
|
rs2148188725
|
|
|
NM_004304.5(ALK):c.2303A>T (p.Asp768Val)
|
|
|
|
NM_004304.5(ALK):c.2305G>A (p.Asp769Asn)
|
|
|
|
NM_004304.5(ALK):c.2306A>G (p.Asp769Gly)
|
|
|
|
NM_004304.5(ALK):c.2306A>T (p.Asp769Val)
|
rs1205473928
|
|
|
NM_004304.5(ALK):c.2310G>A (p.Met770Ile)
|
rs1256405098
|
|
|
NM_004304.5(ALK):c.2312T>C (p.Leu771Pro)
|
|
|
|
NM_004304.5(ALK):c.2313G>T (p.Leu771=)
|
rs538761543
|
|
|
NM_004304.5(ALK):c.2315A>G (p.Tyr772Cys)
|
|
|
|
NM_004304.5(ALK):c.2316C>T (p.Tyr772=)
|
rs762222300
|
|
|
NM_004304.5(ALK):c.2317A>C (p.Ile773Leu)
|
|
|
|
NM_004304.5(ALK):c.2319C>G (p.Ile773Met)
|
rs1227146625
|
|
|
NM_004304.5(ALK):c.2319C>T (p.Ile773=)
|
|
|
|
NM_004304.5(ALK):c.231C>T (p.Ser77=)
|
rs1462178129
|
|
|
NM_004304.5(ALK):c.2322G>C (p.Leu774=)
|
rs777172061
|
|
|
NM_004304.5(ALK):c.2322G>T (p.Leu774=)
|
rs777172061
|
|
|
NM_004304.5(ALK):c.2323G>T (p.Val775Phe)
|
rs1664472929
|
|
|
NM_004304.5(ALK):c.2324T>A (p.Val775Asp)
|
|
|
|
NM_004304.5(ALK):c.2324T>C (p.Val775Ala)
|
|
|
|
NM_004304.5(ALK):c.2327G>A (p.Gly776Glu)
|
rs1664472832
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NM_004304.5(ALK):c.2331G>A (p.Gln777=)
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NM_004304.5(ALK):c.2331G>T (p.Gln777His)
|
rs2148188686
|
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NM_004304.5(ALK):c.2332C>G (p.Gln778Glu)
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NM_004304.5(ALK):c.2334G>A (p.Gln778=)
|
rs2148188685
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NM_004304.5(ALK):c.2338G>A (p.Glu780Lys)
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NM_004304.5(ALK):c.2339A>G (p.Glu780Gly)
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NM_004304.5(ALK):c.233C>G (p.Ser78Trp)
|
rs748978993
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NM_004304.5(ALK):c.233C>T (p.Ser78Leu)
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NM_004304.5(ALK):c.2344G>A (p.Ala782Thr)
|
rs549721018
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NM_004304.5(ALK):c.2345C>G (p.Ala782Gly)
|
rs769390697
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NM_004304.5(ALK):c.2345C>T (p.Ala782Val)
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NM_004304.5(ALK):c.2350C>A (p.Pro784Thr)
|
rs1177791435
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NM_004304.5(ALK):c.2353A>G (p.Ser785Gly)
|
rs1664471687
|
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NM_004304.5(ALK):c.2354G>C (p.Ser785Thr)
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NM_004304.5(ALK):c.2354G>T (p.Ser785Ile)
|
rs1441640593
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NM_004304.5(ALK):c.2355+10C>T
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NM_004304.5(ALK):c.2355+15C>G
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NM_004304.5(ALK):c.2355+17G>A
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NM_004304.5(ALK):c.2355+18G>A
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NM_004304.5(ALK):c.2355+19G>A
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NM_004304.5(ALK):c.2355+19G>T
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NM_004304.5(ALK):c.2355+19_2355+20delinsAA
|
rs2148188644
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NM_004304.5(ALK):c.2355+1G>T
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NM_004304.5(ALK):c.2355+20G>T
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NM_004304.5(ALK):c.2355+3A>T
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NM_004304.5(ALK):c.2355+6T>G
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NM_004304.5(ALK):c.2355+7G>A
|
rs1236531902
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NM_004304.5(ALK):c.2355+7G>T
|
rs1236531902
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NM_004304.5(ALK):c.2355+8C>G
|
rs1198288574
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NM_004304.5(ALK):c.2355T>G (p.Ser785Arg)
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NM_004304.5(ALK):c.2356-11del
|
rs768069628
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NM_004304.5(ALK):c.2356-11dup
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NM_004304.5(ALK):c.2356-16C>G
|
rs551864909
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NM_004304.5(ALK):c.2356-16C>T
|
rs551864909
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NM_004304.5(ALK):c.2356-17G>A
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NM_004304.5(ALK):c.2356-2A>T
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NM_004304.5(ALK):c.2356-4A>G
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NM_004304.5(ALK):c.2356-7T>G
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NM_004304.5(ALK):c.2356A>C (p.Thr786Pro)
|
rs375227499
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NM_004304.5(ALK):c.2356A>G (p.Thr786Ala)
|
rs375227499
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NM_004304.5(ALK):c.2358A>G (p.Thr786=)
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NM_004304.5(ALK):c.2359A>G (p.Asn787Asp)
|
rs1664285603
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NM_004304.5(ALK):c.235G>A (p.Glu79Lys)
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NM_004304.5(ALK):c.2360A>G (p.Asn787Ser)
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NM_004304.5(ALK):c.2361C>A (p.Asn787Lys)
|
rs777889776
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NM_004304.5(ALK):c.2361C>T (p.Asn787=)
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NM_004304.5(ALK):c.2366T>G (p.Leu789Ter)
|
rs2148184625
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NM_004304.5(ALK):c.2373G>A (p.Gln791=)
|
rs1344236918
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NM_004304.5(ALK):c.2374A>G (p.Lys792Glu)
|
rs950513733
|
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NM_004304.5(ALK):c.2376A>G (p.Lys792=)
|
rs1664285138
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NM_004304.5(ALK):c.2378T>C (p.Val793Ala)
|
rs1664284981
|
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NM_004304.5(ALK):c.237G>T (p.Glu79Asp)
|
rs1022670397
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NM_004304.5(ALK):c.2381G>T (p.Cys794Phe)
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NM_004304.5(ALK):c.2382C>T (p.Cys794=)
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NM_004304.5(ALK):c.2385T>C (p.Ile795=)
|
rs2148184598
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NM_004304.5(ALK):c.2386G>A (p.Gly796Arg)
|
rs942512399
|
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NM_004304.5(ALK):c.2387G>A (p.Gly796Glu)
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NM_004304.5(ALK):c.2389G>A (p.Glu797Lys)
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NM_004304.5(ALK):c.238C>T (p.Leu80=)
|
rs2148443647
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NM_004304.5(ALK):c.2390A>G (p.Glu797Gly)
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NM_004304.5(ALK):c.2391G>A (p.Glu797=)
|
rs372037531
|
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NM_004304.5(ALK):c.2392A>T (p.Asn798Tyr)
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NM_004304.5(ALK):c.2393A>C (p.Asn798Thr)
|
rs2148184587
|
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NM_004304.5(ALK):c.2393A>G (p.Asn798Ser)
|
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NM_004304.5(ALK):c.2394C>A (p.Asn798Lys)
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NM_004304.5(ALK):c.2394C>T (p.Asn798=)
|
rs2148184583
|
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NM_004304.5(ALK):c.2396A>G (p.Asn799Ser)
|
rs563120454
|
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NM_004304.5(ALK):c.2397T>C (p.Asn799=)
|
rs1483960716
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NM_004304.5(ALK):c.2399T>A (p.Val800Glu)
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NM_004304.5(ALK):c.2400G>C (p.Val800=)
|
rs1573141693
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NM_004304.5(ALK):c.2401A>G (p.Ile801Val)
|
rs1664284078
|
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NM_004304.5(ALK):c.2402T>C (p.Ile801Thr)
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NM_004304.5(ALK):c.2403A>G (p.Ile801Met)
|
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NM_004304.5(ALK):c.2404GAA[2] (p.Glu804del)
|
rs1558630567
|
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NM_004304.5(ALK):c.2406A>G (p.Glu802=)
|
rs2148184567
|
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NM_004304.5(ALK):c.2410G>A (p.Glu804Lys)
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NM_004304.5(ALK):c.2415C>G (p.Ile805Met)
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NM_004304.5(ALK):c.2415C>T (p.Ile805=)
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NM_004304.5(ALK):c.2416C>A (p.Arg806Ser)
|
rs80227749
|
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NM_004304.5(ALK):c.2417G>T (p.Arg806Leu)
|
rs761568836
|
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NM_004304.5(ALK):c.2420T>C (p.Val807Ala)
|
|
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NM_004304.5(ALK):c.2420dup (p.Asn808fs)
|
rs1664283510
|
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NM_004304.5(ALK):c.2423A>G (p.Asn808Ser)
|
rs2148184532
|
|
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NM_004304.5(ALK):c.2424C>T (p.Asn808=)
|
rs768347719
|
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NM_004304.5(ALK):c.2428A>G (p.Ser810Gly)
|
rs2148184523
|
|
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NM_004304.5(ALK):c.242A>G (p.Lys81Arg)
|
|
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NM_004304.5(ALK):c.2430C>G (p.Ser810Arg)
|
rs150292405
|
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NM_004304.5(ALK):c.2434C>G (p.His812Asp)
|
rs1404474970
|
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NM_004304.5(ALK):c.2439G>A (p.Glu813=)
|
rs745610953
|
|
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NM_004304.5(ALK):c.2440T>G (p.Trp814Gly)
|
rs1664282523
|
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NM_004304.5(ALK):c.2442G>A (p.Trp814Ter)
|
|
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NM_004304.5(ALK):c.2442G>T (p.Trp814Cys)
|
rs2148184506
|
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NM_004304.5(ALK):c.2443G>T (p.Ala815Ser)
|
rs200486099
|
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NM_004304.5(ALK):c.2445A>G (p.Ala815=)
|
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NM_004304.5(ALK):c.2447G>A (p.Gly816Glu)
|
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NM_004304.5(ALK):c.2448A>G (p.Gly816=)
|
rs2148184490
|
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NM_004304.5(ALK):c.2449G>A (p.Gly817Ser)
|
|
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NM_004304.5(ALK):c.2454AGG[2] (p.Gly823del)
|
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NM_004304.5(ALK):c.2456G>A (p.Gly819Glu)
|
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NM_004304.5(ALK):c.2456_2470dup (p.Gly823_Ala824insGlyGlyGlyGlyGly)
|
|
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NM_004304.5(ALK):c.2456dup (p.Gly820fs)
|
rs2148184483
|
|
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NM_004304.5(ALK):c.2458G>A (p.Gly820Arg)
|
rs1664281575
|
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NM_004304.5(ALK):c.2459G>A (p.Gly820Glu)
|
rs1573141557
|
|
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NM_004304.5(ALK):c.2459del (p.Gly820fs)
|
rs2148184481
|
|
|
NM_004304.5(ALK):c.2461G>A (p.Gly821Arg)
|
rs201590062
|
|
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NM_004304.5(ALK):c.2463G>T (p.Gly821=)
|
|
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|
NM_004304.5(ALK):c.246T>A (p.Ala82=)
|
rs1295922670
|
|
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NM_004304.5(ALK):c.2470G>T (p.Ala824Ser)
|
rs571958914
|
|
|
NM_004304.5(ALK):c.2472C>T (p.Ala824=)
|
rs2148184442
|
|
|
NM_004304.5(ALK):c.2474C>T (p.Thr825Ile)
|
rs1573141513
|
|
|
NM_004304.5(ALK):c.2475C>G (p.Thr825=)
|
rs2148184433
|
|
|
NM_004304.5(ALK):c.2479G>C (p.Val827Leu)
|
rs756963896
|
|
|
NM_004304.5(ALK):c.247G>A (p.Gly83Ser)
|
rs2148443637
|
|
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NM_004304.5(ALK):c.2487+10G>A
|
rs1158838448
|
|
|
NM_004304.5(ALK):c.2487+11T>C
|
rs2148184400
|
|
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NM_004304.5(ALK):c.2487+15G>A
|
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NM_004304.5(ALK):c.2487+15_2487+16del
|
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NM_004304.5(ALK):c.2487+20A>G
|
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NM_004304.5(ALK):c.2487+4T>A
|
|
|
|
NM_004304.5(ALK):c.2487+4_2487+5dup
|
rs1664279648
|
|
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NM_004304.5(ALK):c.2487+6G>A
|
rs1664279510
|
|
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NM_004304.5(ALK):c.2487+8G>A
|
|
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|
NM_004304.5(ALK):c.2488-11C>T
|
|
|
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NM_004304.5(ALK):c.2488-15G>A
|
rs2148183504
|
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|
NM_004304.5(ALK):c.2488-19G>A
|
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NM_004304.5(ALK):c.2488-1G>A
|
rs1311699420
|
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|
NM_004304.5(ALK):c.2488-20T>C
|
rs2148183508
|
|
|
NM_004304.5(ALK):c.2488-20T>G
|
|
|
|
NM_004304.5(ALK):c.2488-3C>T
|
rs2148183487
|
|
|
NM_004304.5(ALK):c.2488-5G>A
|
rs2148183488
|
|
|
NM_004304.5(ALK):c.2488-6G>C
|
rs1664242016
|
|
|
NM_004304.5(ALK):c.2488-7T>C
|
|
|
|
NM_004304.5(ALK):c.2488-7del
|
rs1573139744
|
|
|
NM_004304.5(ALK):c.2488-9C>T
|
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|
NM_004304.5(ALK):c.2489T>C (p.Met830Thr)
|
rs1417845239
|
|
|
NM_004304.5(ALK):c.248G>T (p.Gly83Val)
|
rs769440812
|
|
|
NM_004304.5(ALK):c.2494G>A (p.Asp832Asn)
|
rs1376612666
|
|
|
NM_004304.5(ALK):c.2494G>C (p.Asp832His)
|
|
|
|
NM_004304.5(ALK):c.2496T>A (p.Asp832Glu)
|
|
|
|
NM_004304.5(ALK):c.2498G>A (p.Gly833Glu)
|
rs1573139708
|
|
|
NM_004304.5(ALK):c.249C>T (p.Gly83=)
|
rs1466800086
|
|
|
NM_004304.5(ALK):c.2501T>A (p.Val834Glu)
|
rs750849080
|
|
|
NM_004304.5(ALK):c.2502G>C (p.Val834=)
|
|
|
|
NM_004304.5(ALK):c.2505G>C (p.Pro835=)
|
rs201700728
|
|
|
NM_004304.5(ALK):c.2505G>T (p.Pro835=)
|
rs201700728
|
|
|
NM_004304.5(ALK):c.2506G>C (p.Val836Leu)
|
|
|
|
NM_004304.5(ALK):c.2506del (p.Val836fs)
|
rs1664240821
|
|
|
NM_004304.5(ALK):c.2508G>T (p.Val836=)
|
rs2148183455
|
|
|
NM_004304.5(ALK):c.2509C>T (p.Pro837Ser)
|
|
|
|
NM_004304.5(ALK):c.2510C>G (p.Pro837Arg)
|
|
|
|
NM_004304.5(ALK):c.2511C>T (p.Pro837=)
|
|
|
|
NM_004304.5(ALK):c.2513T>C (p.Leu838Pro)
|
|
|
|
NM_004304.5(ALK):c.2513del (p.Leu838fs)
|
rs1573139642
|
|
|
NM_004304.5(ALK):c.2515A>G (p.Ile839Val)
|
rs1371180882
|
|
|
NM_004304.5(ALK):c.2518A>G (p.Ile840Val)
|
|
|
|
NM_004304.5(ALK):c.2520T>C (p.Ile840=)
|
rs2148183433
|
|
|
NM_004304.5(ALK):c.2521G>A (p.Ala841Thr)
|
rs766322560
|
|
|
NM_004304.5(ALK):c.252G>C (p.Arg84Ser)
|
|
|
|
NM_004304.5(ALK):c.252G>T (p.Arg84Ser)
|
rs2148443625
|
|
|
NM_004304.5(ALK):c.2530G>A (p.Gly844Ser)
|
rs2148183406
|
|
|
NM_004304.5(ALK):c.2530G>C (p.Gly844Arg)
|
rs2148183406
|
|
|
NM_004304.5(ALK):c.2535T>G (p.Gly845=)
|
rs2256740
|
|
|
NM_004304.5(ALK):c.2535_2536inv (p.Gly846Ser)
|
|
|
|
NM_004304.5(ALK):c.2536G>C (p.Gly846Arg)
|
|
|
|
NM_004304.5(ALK):c.253C>T (p.Pro85Ser)
|
|
|
|
NM_004304.5(ALK):c.2542G>A (p.Ala848Thr)
|
|
|
|
NM_004304.5(ALK):c.2543C>G (p.Ala848Gly)
|
|
|
|
NM_004304.5(ALK):c.2543C>T (p.Ala848Val)
|
rs1664239038
|
|
|
NM_004304.5(ALK):c.2544C>T (p.Ala848=)
|
|
|
|
NM_004304.5(ALK):c.2546A>G (p.Tyr849Cys)
|
rs1043717591
|
|
|
NM_004304.5(ALK):c.2548G>C (p.Gly850Arg)
|
rs200563480
|
|
|
NM_004304.5(ALK):c.2549G>A (p.Gly850Glu)
|
|
|
|
NM_004304.5(ALK):c.2550G>A (p.Gly850=)
|
rs772710286
|
|
|
NM_004304.5(ALK):c.2551G>T (p.Ala851Ser)
|
|
|
|
NM_004304.5(ALK):c.2552C>A (p.Ala851Asp)
|
rs571017977
|
|
|
NM_004304.5(ALK):c.2558C>T (p.Thr853Ile)
|
|
|
|
NM_004304.5(ALK):c.2559A>G (p.Thr853=)
|
rs2148183335
|
|
|
NM_004304.5(ALK):c.2560G>C (p.Asp854His)
|
rs189078025
|
|
|
NM_004304.5(ALK):c.2564C>T (p.Thr855Met)
|
rs1295878742
|
|
|
NM_004304.5(ALK):c.2565G>C (p.Thr855=)
|
|
|
|
NM_004304.5(ALK):c.2565G>T (p.Thr855=)
|
|
|
|
NM_004304.5(ALK):c.2567T>C (p.Phe856Ser)
|
rs1573139504
|
|
|
NM_004304.5(ALK):c.256G>A (p.Glu86Lys)
|
rs1448609696
|
|
|
NM_004304.5(ALK):c.256G>T (p.Glu86Ter)
|
|
|
|
NM_004304.5(ALK):c.2570A>T (p.His857Leu)
|
rs1664237639
|
|
|
NM_004304.5(ALK):c.2571C>G (p.His857Gln)
|
|
|
|
NM_004304.5(ALK):c.2575G>A (p.Glu859Lys)
|
rs2148183312
|
|
|
NM_004304.5(ALK):c.2577G>A (p.Glu859=)
|
rs61754865
|
|
|
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)
|
rs61754865
|
|
|
NM_004304.5(ALK):c.2579G>A (p.Arg860Lys)
|
rs1194282326
|
|
|
NM_004304.5(ALK):c.257_263dup (p.Ser90fs)
|
|
|
|
NM_004304.5(ALK):c.2582T>G (p.Leu861Arg)
|
|
|
|
NM_004304.5(ALK):c.2583G>C (p.Leu861=)
|
rs201079493
|
|
|
NM_004304.5(ALK):c.2584G>C (p.Glu862Gln)
|
|
|
|
NM_004304.5(ALK):c.2586G>A (p.Glu862=)
|
rs2148183297
|
|
|
NM_004304.5(ALK):c.258G>C (p.Glu86Asp)
|
rs878854654
|
|
|
NM_004304.5(ALK):c.2592CTC[1] (p.Ser866del)
|
|
|
|
NM_004304.5(ALK):c.2593T>C (p.Ser865Pro)
|
|
|
|
NM_004304.5(ALK):c.2596T>A (p.Ser866Thr)
|
|
|
|
NM_004304.5(ALK):c.2596T>C (p.Ser866Pro)
|
rs1553396171
|
|
|
NM_004304.5(ALK):c.2598G>C (p.Ser866=)
|
rs56304041
|
|
|
NM_004304.5(ALK):c.2599G>A (p.Val867Ile)
|
rs1402889581
|
|
|
NM_004304.5(ALK):c.25C>A (p.Leu9Ile)
|
rs1335279051
|
|
|
NM_004304.5(ALK):c.2600T>C (p.Val867Ala)
|
rs1664236109
|
|
|
NM_004304.5(ALK):c.2602C>T (p.Leu868=)
|
|
|
|
NM_004304.5(ALK):c.2606G>A (p.Gly869Glu)
|
|
|
|
NM_004304.5(ALK):c.260C>T (p.Ala87Val)
|
|
|
|
NM_004304.5(ALK):c.2610A>G (p.Leu870=)
|
rs2148183276
|
|
|
NM_004304.5(ALK):c.2615G>A (p.Gly872Asp)
|
|
|
|
NM_004304.5(ALK):c.2615G>T (p.Gly872Val)
|
|
|
|
NM_004304.5(ALK):c.2616C>T (p.Gly872=)
|
rs2148183266
|
|
|
NM_004304.5(ALK):c.2618A>T (p.Asn873Ile)
|
|
|
|
NM_004304.5(ALK):c.2620T>C (p.Ser874Pro)
|
|
|
|
NM_004304.5(ALK):c.2622C>G (p.Ser874=)
|
|
|
|
NM_004304.5(ALK):c.2626G>C (p.Ala876Pro)
|
|
|
|
NM_004304.5(ALK):c.2627C>G (p.Ala876Gly)
|
|
|
|
NM_004304.5(ALK):c.2628C>T (p.Ala876=)
|
rs1573139394
|
|
|
NM_004304.5(ALK):c.2629G>T (p.Ala877Ser)
|
rs746442213
|
|
|
NM_004304.5(ALK):c.262C>T (p.Arg88Cys)
|
|
|
|
NM_004304.5(ALK):c.2631A>C (p.Ala877=)
|
|
|
|
NM_004304.5(ALK):c.2632+10del
|
|
|
|
NM_004304.5(ALK):c.2632+11G>A
|
|
|
|
NM_004304.5(ALK):c.2632+11G>T
|
|
|
|
NM_004304.5(ALK):c.2632+13A>G
|
|
|
|
NM_004304.5(ALK):c.2632+14A>T
|
|
|
|
NM_004304.5(ALK):c.2632+17G>C
|
|
|
|
NM_004304.5(ALK):c.2632+18T>C
|
rs1664233676
|
|
|
NM_004304.5(ALK):c.2632+2T>C
|
|
|
|
NM_004304.5(ALK):c.2632+7C>G
|
|
|
|
NM_004304.5(ALK):c.2633-11T>C
|
rs2148180747
|
|
|
NM_004304.5(ALK):c.2633-12C>G
|
|
|
|
NM_004304.5(ALK):c.2633-12C>T
|
|
|
|
NM_004304.5(ALK):c.2633-14A>G
|
|
|
|
NM_004304.5(ALK):c.2633-14A>T
|
|
|
|
NM_004304.5(ALK):c.2633-15T>C
|
rs1558627607
|
|
|
NM_004304.5(ALK):c.2633-17C>A
|
|
|
|
NM_004304.5(ALK):c.2633-18C>T
|
rs2148180757
|
|
|
NM_004304.5(ALK):c.2633-19T>A
|
|
|
|
NM_004304.5(ALK):c.2633-2A>C
|
|
|
|
NM_004304.5(ALK):c.2633-2A>G
|
rs1471857749
|
|
|
NM_004304.5(ALK):c.2633-4G>C
|
rs199575811
|
|
|
NM_004304.5(ALK):c.2633-5C>T
|
rs773644242
|
|
|
NM_004304.5(ALK):c.2633-6C>A
|
rs577768628
|
|
|
NM_004304.5(ALK):c.2633-8_2633-7delinsAT
|
|
|
|
NM_004304.5(ALK):c.2633G>A (p.Gly878Asp)
|
rs1664106372
|
|
|
NM_004304.5(ALK):c.2633G>C (p.Gly878Ala)
|
|
|
|
NM_004304.5(ALK):c.2639G>A (p.Gly880Glu)
|
rs1179544655
|
|
|
NM_004304.5(ALK):c.2641G>C (p.Gly881Arg)
|
rs1256624924
|
|
|
NM_004304.5(ALK):c.2641G>T (p.Gly881Cys)
|
|
|
|
NM_004304.5(ALK):c.2644G>A (p.Gly882Ser)
|
|
|
|
NM_004304.5(ALK):c.2648G>A (p.Trp883Ter)
|
rs2148180715
|
|
|
NM_004304.5(ALK):c.2649G>A (p.Trp883Ter)
|
|
|
|
NM_004304.5(ALK):c.2649G>C (p.Trp883Cys)
|
|
|
|
NM_004304.5(ALK):c.264C>A (p.Arg88=)
|
|
|
|
NM_004304.5(ALK):c.2653G>T (p.Asp885Tyr)
|
|
|
|
NM_004304.5(ALK):c.2656A>G (p.Asn886Asp)
|
rs2148180711
|
|
|
NM_004304.5(ALK):c.2658C>T (p.Asn886=)
|
rs2148180703
|
|
|
NM_004304.5(ALK):c.265G>A (p.Gly89Ser)
|
rs1468357046
|
|
|
NM_004304.5(ALK):c.2660C>T (p.Thr887Ile)
|
|
|
|
NM_004304.5(ALK):c.2664C>T (p.Ser888=)
|
rs1322781138
|
|
|
NM_004304.5(ALK):c.2667G>A (p.Leu889=)
|
|
|
|
NM_004304.5(ALK):c.2667G>C (p.Leu889Phe)
|
rs1664104202
|
|
|
NM_004304.5(ALK):c.2667G>T (p.Leu889Phe)
|
rs1664104202
|
|
|
NM_004304.5(ALK):c.266G>C (p.Gly89Ala)
|
rs1558549988
|
|
|
NM_004304.5(ALK):c.266G>T (p.Gly89Val)
|
|
|
|
NM_004304.5(ALK):c.2670C>A (p.Leu890=)
|
|
|
|
NM_004304.5(ALK):c.2670C>G (p.Leu890=)
|
rs555222775
|
|
|
NM_004304.5(ALK):c.2670C>T (p.Leu890=)
|
|
|
|
NM_004304.5(ALK):c.2671T>C (p.Trp891Arg)
|
|
|
|
NM_004304.5(ALK):c.2674G>A (p.Ala892Thr)
|
|
|
|
NM_004304.5(ALK):c.2674dup (p.Ala892fs)
|
|
|
|
NM_004304.5(ALK):c.2675C>A (p.Ala892Asp)
|
|
|
|
NM_004304.5(ALK):c.2676C>G (p.Ala892=)
|
|
|
|
NM_004304.5(ALK):c.2677G>C (p.Gly893Arg)
|
rs764014697
|
|
|
NM_004304.5(ALK):c.267C>G (p.Gly89=)
|
|
|
|
NM_004304.5(ALK):c.2681A>T (p.Lys894Ile)
|
|
|
|
NM_004304.5(ALK):c.2682dup (p.Ser895fs)
|
rs1664103646
|
|
|
NM_004304.5(ALK):c.2687T>C (p.Leu896Ser)
|
|
|
|
NM_004304.5(ALK):c.2688G>C (p.Leu896Phe)
|
|
|
|
NM_004304.5(ALK):c.2692G>A (p.Glu898Lys)
|
rs1374366049
|
|
|
NM_004304.5(ALK):c.2694G>C (p.Glu898Asp)
|
|
|
|
NM_004304.5(ALK):c.2697T>G (p.Gly899=)
|
|
|
|
NM_004304.5(ALK):c.2699C>T (p.Ala900Val)
|
|
|
|
NM_004304.5(ALK):c.269C>T (p.Ser90Leu)
|
|
|
|
NM_004304.5(ALK):c.26T>G (p.Leu9Arg)
|
rs764671855
|
|
|
NM_004304.5(ALK):c.26_27delinsCG (p.Leu9Pro)
|
rs1558550306
|
|
|
NM_004304.5(ALK):c.2702C>T (p.Thr901Ile)
|
|
|
|
NM_004304.5(ALK):c.2702_2711del (p.Thr901fs)
|
rs1664102433
|
|
|
NM_004304.5(ALK):c.2703C>G (p.Thr901=)
|
|
|
|
NM_004304.5(ALK):c.270G>A (p.Ser90=)
|
|
|
|
NM_004304.5(ALK):c.270G>C (p.Ser90=)
|
|
|
|
NM_004304.5(ALK):c.270G>T (p.Ser90=)
|
|
|
|
NM_004304.5(ALK):c.270_297dup (p.Arg100fs)
|
rs1553380382
|
|
|
NM_004304.5(ALK):c.2711A>C (p.His904Pro)
|
|
|
|
NM_004304.5(ALK):c.2714C>T (p.Ser905Phe)
|
|
|
|
NM_004304.5(ALK):c.2716_2717insTT (p.Cys906fs)
|
rs2148180615
|
|
|
NM_004304.5(ALK):c.2720C>T (p.Pro907Leu)
|
|
|
|
NM_004304.5(ALK):c.2721C>G (p.Pro907=)
|
|
|
|
NM_004304.5(ALK):c.2722C>T (p.Gln908Ter)
|
|
|
|
NM_004304.5(ALK):c.2722dup (p.Gln908fs)
|
|
|
|
NM_004304.5(ALK):c.2724G>C (p.Gln908His)
|
rs1441852921
|
|
|
NM_004304.5(ALK):c.2725G>A (p.Ala909Thr)
|
rs2148180596
|
|
|
NM_004304.5(ALK):c.2726C>A (p.Ala909Asp)
|
rs1664101854
|
|
|
NM_004304.5(ALK):c.272T>A (p.Leu91Gln)
|
|
|
|
NM_004304.5(ALK):c.2731A>C (p.Lys911Gln)
|
rs1664101526
|
|
|
NM_004304.5(ALK):c.2732A>G (p.Lys911Arg)
|
rs1664101463
|
|
|
NM_004304.5(ALK):c.2738G>A (p.Trp913Ter)
|
rs1280277994
|
|
|
NM_004304.5(ALK):c.2740G>C (p.Gly914Arg)
|
rs1220052371
|
|
|
NM_004304.5(ALK):c.2741G>A (p.Gly914Glu)
|
|
|
|
NM_004304.5(ALK):c.2741G>C (p.Gly914Ala)
|
|
|
|
NM_004304.5(ALK):c.2741G>T (p.Gly914Val)
|
|
|
|
NM_004304.5(ALK):c.2742G>A (p.Gly914=)
|
|
|
|
NM_004304.5(ALK):c.2742dup (p.Trp915fs)
|
|
|
|
NM_004304.5(ALK):c.2744G>A (p.Trp915Ter)
|
|
|
|
NM_004304.5(ALK):c.2744G>C (p.Trp915Ser)
|
rs1241864472
|
|
|
NM_004304.5(ALK):c.2746G>A (p.Glu916Lys)
|
rs2148180551
|
|
|
NM_004304.5(ALK):c.2747A>G (p.Glu916Gly)
|
|
|
|
NM_004304.5(ALK):c.2749A>G (p.Thr917Ala)
|
rs2148180542
|
|
|
NM_004304.5(ALK):c.274G>T (p.Ala92Ser)
|
|
|
|
NM_004304.5(ALK):c.2753G>C (p.Arg918Thr)
|
|
|
|
NM_004304.5(ALK):c.2755G>A (p.Gly919Arg)
|
rs1664099541
|
|
|
NM_004304.5(ALK):c.2755G>T (p.Gly919Trp)
|
rs1664099541
|
|
|
NM_004304.5(ALK):c.2757G>A (p.Gly919=)
|
|
|
|
NM_004304.5(ALK):c.2758G>A (p.Gly920Ser)
|
|
|
|
NM_004304.5(ALK):c.2758G>T (p.Gly920Cys)
|
|
|
|
NM_004304.5(ALK):c.275C>G (p.Ala92Gly)
|
rs1667961757
|
|
|
NM_004304.5(ALK):c.275C>T (p.Ala92Val)
|
rs1667961757
|
|
|
NM_004304.5(ALK):c.2767G>A (p.Gly923Arg)
|
rs1664097953
|
|
|
NM_004304.5(ALK):c.2768G>A (p.Gly923Glu)
|
|
|
|
NM_004304.5(ALK):c.2768_2769delinsAA (p.Gly923Glu)
|
|
|
|
NM_004304.5(ALK):c.2769G>A (p.Gly923=)
|
rs75434768
|
|
|
NM_004304.5(ALK):c.2769G>T (p.Gly923=)
|
|
|
|
NM_004304.5(ALK):c.276T>C (p.Ala92=)
|
|
|
|
NM_004304.5(ALK):c.2771G>A (p.Gly924Asp)
|
rs75861155
|
|
|
NM_004304.5(ALK):c.2771G>C (p.Gly924Ala)
|
|
|
|
NM_004304.5(ALK):c.2771G>T (p.Gly924Val)
|
|
|
|
NM_004304.5(ALK):c.2772T>G (p.Gly924=)
|
rs749286400
|
|
|
NM_004304.5(ALK):c.2775A>G (p.Gly925=)
|
rs777406442
|
|
|
NM_004304.5(ALK):c.2776G>T (p.Gly926Trp)
|
rs1664097034
|
|
|
NM_004304.5(ALK):c.2777G>T (p.Gly926Val)
|
|
|
|
NM_004304.5(ALK):c.2778G>A (p.Gly926=)
|
rs1664096879
|
|
|
NM_004304.5(ALK):c.2778G>T (p.Gly926=)
|
rs1664096879
|
|
|
NM_004304.5(ALK):c.2778_2798del (p.Cys928_Gly934del)
|
rs1664095568
|
|
|
NM_004304.5(ALK):c.2780G>C (p.Gly927Ala)
|
rs2148180455
|
|
|
NM_004304.5(ALK):c.2780G>T (p.Gly927Val)
|
rs2148180455
|
|
|
NM_004304.5(ALK):c.2781G>A (p.Gly927=)
|
rs1264537420
|
|
|
NM_004304.5(ALK):c.2781G>C (p.Gly927=)
|
rs1264537420
|
|
|
NM_004304.5(ALK):c.2781del (p.Cys928fs)
|
rs772809305
|
|
|
NM_004304.5(ALK):c.2782T>C (p.Cys928Arg)
|
rs1664096277
|
|
|
NM_004304.5(ALK):c.2784C>G (p.Cys928Trp)
|
rs1553395572
|
|
|
NM_004304.5(ALK):c.2784CTC[1] (p.Ser930del)
|
|
|
|
NM_004304.5(ALK):c.2785T>G (p.Ser929Ala)
|
|
|
|
NM_004304.5(ALK):c.2786C>G (p.Ser929Cys)
|
rs752568687
|
|
|
NM_004304.5(ALK):c.2786C>T (p.Ser929Phe)
|
rs752568687
|
|
|
NM_004304.5(ALK):c.2789C>G (p.Ser930Ter)
|
rs767777102
|
|
|
NM_004304.5(ALK):c.2793T>C (p.Gly931=)
|
rs1573134379
|
|
|
NM_004304.5(ALK):c.2795G>A (p.Gly932Glu)
|
|
|
|
NM_004304.5(ALK):c.2795G>C (p.Gly932Ala)
|
rs755261455
|
|
|
NM_004304.5(ALK):c.2796A>C (p.Gly932=)
|
|
|
|
NM_004304.5(ALK):c.2796AGG[1] (p.Gly936del)
|
|
|
|
NM_004304.5(ALK):c.2798del (p.Gly933fs)
|
rs1664095457
|
|
|
NM_004304.5(ALK):c.27_28delinsGT (p.Leu9_Leu10=)
|
rs1553380482
|
|
|
NM_004304.5(ALK):c.2804G>A (p.Gly935Glu)
|
|
|
|
NM_004304.5(ALK):c.280G>C (p.Asp94His)
|
rs1060500234
|
|
|
NM_004304.5(ALK):c.280G>T (p.Asp94Tyr)
|
rs1060500234
|
|
|
NM_004304.5(ALK):c.2815+12T>G
|
|
|
|
NM_004304.5(ALK):c.2815+13C>G
|
|
|
|
NM_004304.5(ALK):c.2815+13C>T
|
|
|
|
NM_004304.5(ALK):c.2815+14G>A
|
rs1288484506
|
|
|
NM_004304.5(ALK):c.2815+14G>C
|
|
|
|
NM_004304.5(ALK):c.2815+14G>T
|
|
|
|
NM_004304.5(ALK):c.2815+17T>A
|
|
|
|
NM_004304.5(ALK):c.2815+9G>T
|
|
|
|
NM_004304.5(ALK):c.2815G>A (p.Gly939Ser)
|
|
|
|
NM_004304.5(ALK):c.2816-10T>G
|
|
|
|
NM_004304.5(ALK):c.2816-13G>A
|
|
|
|
NM_004304.5(ALK):c.2816-15T>C
|
|
|
|
NM_004304.5(ALK):c.2816-18_2816-14del
|
rs1415263384
|
|
|
NM_004304.5(ALK):c.2816-19G>A
|
rs2148179464
|
|
|
NM_004304.5(ALK):c.2816-1G>A
|
|
|
|
NM_004304.5(ALK):c.2816-2A>C
|
rs1664047349
|
|
|
NM_004304.5(ALK):c.2816-4T>A
|
|
|
|
NM_004304.5(ALK):c.2816-6A>T
|
|
|
|
NM_004304.5(ALK):c.2816-7T>C
|
rs755251438
|
|
|
NM_004304.5(ALK):c.2818G>A (p.Gly940Ser)
|
rs372008367
|
|
|
NM_004304.5(ALK):c.2818G>T (p.Gly940Cys)
|
rs372008367
|
|
|
NM_004304.5(ALK):c.2820C>A (p.Gly940=)
|
rs765665803
|
|
|
NM_004304.5(ALK):c.2820C>T (p.Gly940=)
|
|
|
|
NM_004304.5(ALK):c.2823T>A (p.Asn941Lys)
|
|
|
|
NM_004304.5(ALK):c.2823T>C (p.Asn941=)
|
rs2148179417
|
|
|
NM_004304.5(ALK):c.2824G>A (p.Ala942Thr)
|
rs1664046731
|
|
|
NM_004304.5(ALK):c.2825C>T (p.Ala942Val)
|
rs2148179408
|
|
|
NM_004304.5(ALK):c.2827G>C (p.Ala943Pro)
|
|
|
|
NM_004304.5(ALK):c.2829C>T (p.Ala943=)
|
|
|
|
NM_004304.5(ALK):c.282C>G (p.Asp94Glu)
|
rs1558549961
|
|
|
NM_004304.5(ALK):c.282C>T (p.Asp94=)
|
|
|
|
NM_004304.5(ALK):c.2834_2837del (p.Asn945fs)
|
rs1239836109
|
|
|
NM_004304.5(ALK):c.2836A>G (p.Asn946Asp)
|
rs1573132720
|
|
|
NM_004304.5(ALK):c.2836_2838del (p.Asn946del)
|
rs1664046295
|
|
|
NM_004304.5(ALK):c.2837A>G (p.Asn946Ser)
|
|
|
|
NM_004304.5(ALK):c.2842C>G (p.Pro948Ala)
|
rs764482518
|
|
|
NM_004304.5(ALK):c.2842C>T (p.Pro948Ser)
|
rs764482518
|
|
|
NM_004304.5(ALK):c.2844C>A (p.Pro948=)
|
|
|
|
NM_004304.5(ALK):c.2847A>C (p.Glu949Asp)
|
|
|
|
NM_004304.5(ALK):c.2847A>G (p.Glu949=)
|
|
|
|
NM_004304.5(ALK):c.2848A>G (p.Met950Val)
|
|
|
|
NM_004304.5(ALK):c.2849T>C (p.Met950Thr)
|
|
|
|
NM_004304.5(ALK):c.2850G>C (p.Met950Ile)
|
|
|
|
NM_004304.5(ALK):c.2851G>T (p.Asp951Tyr)
|
|
|
|
NM_004304.5(ALK):c.2853T>C (p.Asp951=)
|
rs201222888
|
|
|
NM_004304.5(ALK):c.2857G>A (p.Glu953Lys)
|
rs1664045661
|
|
|
NM_004304.5(ALK):c.2859A>G (p.Glu953=)
|
|
|
|
NM_004304.5(ALK):c.285C>T (p.Cys95=)
|
rs2148443583
|
|
|
NM_004304.5(ALK):c.2860G>A (p.Asp954Asn)
|
|
|
|
NM_004304.5(ALK):c.2862T>C (p.Asp954=)
|
rs2148179347
|
|
|
NM_004304.5(ALK):c.2865G>A (p.Gly955=)
|
|
|
|
NM_004304.5(ALK):c.2866G>A (p.Val956Ile)
|
rs769837053
|
|
|
NM_004304.5(ALK):c.2866G>T (p.Val956Phe)
|
|
|
|
NM_004304.5(ALK):c.2871C>T (p.Ser957=)
|
|
|
|
NM_004304.5(ALK):c.2872T>G (p.Phe958Val)
|
|
|
|
NM_004304.5(ALK):c.2874C>T (p.Phe958=)
|
|
|
|
NM_004304.5(ALK):c.2875A>C (p.Ile959Leu)
|
|
|
|
NM_004304.5(ALK):c.2878A>G (p.Ser960Gly)
|
|
|
|
NM_004304.5(ALK):c.2879G>T (p.Ser960Ile)
|
|
|
|
NM_004304.5(ALK):c.2879_2884delinsT (p.Ser960fs)
|
rs1558626541
|
|
|
NM_004304.5(ALK):c.2880T>C (p.Ser960=)
|
rs2148179320
|
|
|
NM_004304.5(ALK):c.2881C>G (p.Pro961Ala)
|
rs1664044463
|
|
|
NM_004304.5(ALK):c.2881_2885del (p.Pro961fs)
|
rs1317343191
|
|
|
NM_004304.5(ALK):c.2886G>A (p.Leu962=)
|
rs1573132628
|
|
|
NM_004304.5(ALK):c.2887G>A (p.Gly963Ser)
|
|
|
|
NM_004304.5(ALK):c.2888G>C (p.Gly963Ala)
|
|
|
|
NM_004304.5(ALK):c.2888dup (p.Ile964fs)
|
|
|
|
NM_004304.5(ALK):c.2889C>A (p.Gly963=)
|
|
|
|
NM_004304.5(ALK):c.288C>A (p.Ala96=)
|
rs1372884724
|
|
|
NM_004304.5(ALK):c.2890A>T (p.Ile964Phe)
|
rs2148179307
|
|
|
NM_004304.5(ALK):c.2891T>A (p.Ile964Asn)
|
rs768623350
|
|
|
NM_004304.5(ALK):c.2891T>C (p.Ile964Thr)
|
|
|
|
NM_004304.5(ALK):c.2893C>A (p.Leu965Met)
|
|
|
|
NM_004304.5(ALK):c.2895G>C (p.Leu965=)
|
|
|
|
NM_004304.5(ALK):c.2897del (p.Tyr966fs)
|
|
|
|
NM_004304.5(ALK):c.2898C>T (p.Tyr966=)
|
rs113303272
|
|
|
NM_004304.5(ALK):c.289C>A (p.Pro97Thr)
|
|
|
|
NM_004304.5(ALK):c.2901C>A (p.Thr967=)
|
rs886055930
|
|
|
NM_004304.5(ALK):c.2901C>T (p.Thr967=)
|
|
|
|
NM_004304.5(ALK):c.2903C>T (p.Pro968Leu)
|
|
|
|
NM_004304.5(ALK):c.290C>T (p.Pro97Leu)
|
|
|
|
NM_004304.5(ALK):c.2914+11T>C
|
|
|
|
NM_004304.5(ALK):c.2914+12G>T
|
|
|
|
NM_004304.5(ALK):c.2914+14C>T
|
|
|
|
NM_004304.5(ALK):c.2914+14_2914+15insTTTTAA
|
|
|
|
NM_004304.5(ALK):c.2914+15A>G
|
|
|
|
NM_004304.5(ALK):c.2914+17G>A
|
|
|
|
NM_004304.5(ALK):c.2914+4G>A
|
rs1573132557
|
|
|
NM_004304.5(ALK):c.2914+9T>C
|
rs1573132544
|
|
|
NM_004304.5(ALK):c.2915-11C>G
|
|
|
|
NM_004304.5(ALK):c.2915-12C>T
|
rs2148178772
|
|
|
NM_004304.5(ALK):c.2915-12_2915-9del
|
|
|
|
NM_004304.5(ALK):c.2915-14C>G
|
|
|
|
NM_004304.5(ALK):c.2915-14C>T
|
|
|
|
NM_004304.5(ALK):c.2915-19C>A
|
|
|
|
NM_004304.5(ALK):c.2915-20C>G
|
|
|
|
NM_004304.5(ALK):c.2915-4C>G
|
|
|
|
NM_004304.5(ALK):c.2915-4C>T
|
rs2148178748
|
|
|
NM_004304.5(ALK):c.2915-5A>G
|
|
|
|
NM_004304.5(ALK):c.2915-6C>A
|
|
|
|
NM_004304.5(ALK):c.2915-9T>G
|
|
|
|
NM_004304.5(ALK):c.2915T>C (p.Val972Ala)
|
|
|
|
NM_004304.5(ALK):c.2917A>G (p.Met973Val)
|
rs1664022726
|
|
|
NM_004304.5(ALK):c.2919G>A (p.Met973Ile)
|
rs2148178726
|
|
|
NM_004304.5(ALK):c.291G>A (p.Pro97=)
|
|
|
|
NM_004304.5(ALK):c.2924G>T (p.Gly975Val)
|
rs1472378906
|
|
|
NM_004304.5(ALK):c.2925C>G (p.Gly975=)
|
|
|
|
NM_004304.5(ALK):c.2926C>T (p.His976Tyr)
|
rs1664022542
|
|
|
NM_004304.5(ALK):c.2927A>C (p.His976Pro)
|
|
|
|
NM_004304.5(ALK):c.2928C>A (p.His976Gln)
|
|
|
|
NM_004304.5(ALK):c.2929G>T (p.Gly977Trp)
|
|
|
|
NM_004304.5(ALK):c.292C>T (p.Leu98=)
|
rs1572503528
|
|
|
NM_004304.5(ALK):c.2942T>C (p.Ile981Thr)
|
|
|
|
NM_004304.5(ALK):c.2944A>G (p.Lys982Glu)
|
|
|
|
NM_004304.5(ALK):c.2947C>T (p.His983Tyr)
|
|
|
|
NM_004304.5(ALK):c.2948A>G (p.His983Arg)
|
|
|
|
NM_004304.5(ALK):c.2949T>C (p.His983=)
|
rs539585617
|
|
|
NM_004304.5(ALK):c.294G>C (p.Leu98=)
|
|
|
|
NM_004304.5(ALK):c.2950T>C (p.Tyr984His)
|
rs1573131855
|
|
|
NM_004304.5(ALK):c.2952T>G (p.Tyr984Ter)
|
rs1558626238
|
|
|
NM_004304.5(ALK):c.2953C>T (p.Leu985=)
|
|
|
|
NM_004304.5(ALK):c.2958C>T (p.Asn986=)
|
rs2148178617
|
|
|
NM_004304.5(ALK):c.295C>T (p.Leu99Phe)
|
rs1165577510
|
|
|
NM_004304.5(ALK):c.2961C>T (p.Cys987=)
|
rs1400037080
|
|
|
NM_004304.5(ALK):c.2962A>C (p.Ser988Arg)
|
rs2148178601
|
|
|
NM_004304.5(ALK):c.2965C>A (p.His989Asn)
|
|
|
|
NM_004304.5(ALK):c.2965C>T (p.His989Tyr)
|
rs1664021582
|
|
|
NM_004304.5(ALK):c.2967C>T (p.His989=)
|
rs2148178589
|
|
|
NM_004304.5(ALK):c.2970_2971del (p.Cys990_Glu991delinsTer)
|
|
|
|
NM_004304.5(ALK):c.2976A>G (p.Val992=)
|
rs2148178556
|
|
|
NM_004304.5(ALK):c.2977G>A (p.Asp993Asn)
|
|
|
|
NM_004304.5(ALK):c.2977G>C (p.Asp993His)
|
|
|
|
NM_004304.5(ALK):c.2978A>G (p.Asp993Gly)
|
rs1451931405
|
|
|
NM_004304.5(ALK):c.2978A>T (p.Asp993Val)
|
rs1451931405
|
|
|
NM_004304.5(ALK):c.2979C>A (p.Asp993Glu)
|
rs761999849
|
|
|
NM_004304.5(ALK):c.297C>A (p.Leu99=)
|
rs545367563
|
|
|
NM_004304.5(ALK):c.2982dup (p.Cys995fs)
|
|
|
|
NM_004304.5(ALK):c.2988dup (p.Met997fs)
|
rs1573131798
|
|
|
NM_004304.5(ALK):c.2989A>G (p.Met997Val)
|
|
|
|
NM_004304.5(ALK):c.2990T>A (p.Met997Lys)
|
|
|
|
NM_004304.5(ALK):c.2990T>C (p.Met997Thr)
|
|
|
|
NM_004304.5(ALK):c.2992G>A (p.Asp998Asn)
|
|
|
|
NM_004304.5(ALK):c.2993A>C (p.Asp998Ala)
|
rs1664020706
|
|
|
NM_004304.5(ALK):c.2993A>T (p.Asp998Val)
|
|
|
|
NM_004304.5(ALK):c.2996C>T (p.Pro999Leu)
|
|
|
|
NM_004304.5(ALK):c.2997T>G (p.Pro999=)
|
rs2148178500
|
|
|
NM_004304.5(ALK):c.2998G>C (p.Glu1000Gln)
|
rs1664020327
|
|
|
NM_004304.5(ALK):c.299G>A (p.Arg100Lys)
|
|
|
|
NM_004304.5(ALK):c.2T>C (p.Met1Thr)
|
|
|
|
NM_004304.5(ALK):c.3000A>G (p.Glu1000=)
|
|
|
|
NM_004304.5(ALK):c.3001A>G (p.Ser1001Gly)
|
|
|
|
NM_004304.5(ALK):c.3005A>C (p.His1002Pro)
|
rs760587817
|
|
|
NM_004304.5(ALK):c.3007A>C (p.Lys1003Gln)
|
|
|
|
NM_004304.5(ALK):c.3008A>G (p.Lys1003Arg)
|
|
|
|
NM_004304.5(ALK):c.3011T>C (p.Val1004Ala)
|
rs2148178460
|
|
|
NM_004304.5(ALK):c.3012C>T (p.Val1004=)
|
|
|
|
NM_004304.5(ALK):c.3013A>G (p.Ile1005Val)
|
rs1664019256
|
|
|
NM_004304.5(ALK):c.3017G>T (p.Cys1006Phe)
|
rs1553395221
|
|
|
NM_004304.5(ALK):c.3018C>A (p.Cys1006Ter)
|
|
|
|
NM_004304.5(ALK):c.3018C>T (p.Cys1006=)
|
rs1573131707
|
|
|
NM_004304.5(ALK):c.3019T>G (p.Phe1007Val)
|
rs1573131702
|
|
|
NM_004304.5(ALK):c.301T>G (p.Leu101Val)
|
|
|
|
NM_004304.5(ALK):c.3020T>C (p.Phe1007Ser)
|
rs1558626190
|
|
|
NM_004304.5(ALK):c.3027C>A (p.Asp1009Glu)
|
|
|
|
NM_004304.5(ALK):c.3027C>T (p.Asp1009=)
|
|
|
|
NM_004304.5(ALK):c.3029A>G (p.His1010Arg)
|
|
|
|
NM_004304.5(ALK):c.302_323del (p.Leu101fs)
|
|
|
|
NM_004304.5(ALK):c.3031G>C (p.Gly1011Arg)
|
|
|
|
NM_004304.5(ALK):c.3036_3037delinsAT (p.Val1013Leu)
|
rs2148178369
|
|
|
NM_004304.5(ALK):c.3037G>T (p.Val1013Leu)
|
|
|
|
NM_004304.5(ALK):c.3039G>T (p.Val1013=)
|
|
|
|
NM_004304.5(ALK):c.303G>A (p.Leu101=)
|
|
|
|
NM_004304.5(ALK):c.3042G>A (p.Leu1014=)
|
rs1553395215
|
|
|
NM_004304.5(ALK):c.3043G>A (p.Ala1015Thr)
|
|
|
|
NM_004304.5(ALK):c.3043G>T (p.Ala1015Ser)
|
rs1263029598
|
|
|
NM_004304.5(ALK):c.3048G>C (p.Glu1016Asp)
|
|
|
|
NM_004304.5(ALK):c.3048_3050del (p.Glu1016del)
|
|
|
|
NM_004304.5(ALK):c.3050A>G (p.Asp1017Gly)
|
|
|
|
NM_004304.5(ALK):c.3052G>A (p.Gly1018Ser)
|
rs1060500212
|
|
|
NM_004304.5(ALK):c.3055G>T (p.Val1019Phe)
|
rs76742576
|
|
|
NM_004304.5(ALK):c.305T>A (p.Leu102Gln)
|
|
|
|
NM_004304.5(ALK):c.3060C>T (p.Ser1020=)
|
rs1060503883
|
|
|
NM_004304.5(ALK):c.3062G>C (p.Cys1021Ser)
|
|
|
|
NM_004304.5(ALK):c.3063C>T (p.Cys1021=)
|
rs1664017012
|
|
|
NM_004304.5(ALK):c.3064A>G (p.Ile1022Val)
|
|
|
|
NM_004304.5(ALK):c.3065T>A (p.Ile1022Asn)
|
|
|
|
NM_004304.5(ALK):c.3065T>G (p.Ile1022Ser)
|
rs778643763
|
|
|
NM_004304.5(ALK):c.3067+10C>G
|
rs1553395203
|
|
|
NM_004304.5(ALK):c.3067+10C>T
|
rs1553395203
|
|
|
NM_004304.5(ALK):c.3067+12G>C
|
|
|
|
NM_004304.5(ALK):c.3067+13G>A
|
|
|
|
NM_004304.5(ALK):c.3067+14G>T
|
|
|
|
NM_004304.5(ALK):c.3067+15C>G
|
rs2148178230
|
|
|
NM_004304.5(ALK):c.3067+16C>A
|
|
|
|
NM_004304.5(ALK):c.3067+16C>T
|
|
|
|
NM_004304.5(ALK):c.3067+17A>G
|
|
|
|
NM_004304.5(ALK):c.3067+19G>A
|
|
|
|
NM_004304.5(ALK):c.3067+19G>C
|
|
|
|
NM_004304.5(ALK):c.3067+1G>T
|
rs2148178263
|
|
|
NM_004304.5(ALK):c.3067+6G>T
|
rs1573131521
|
|
|
NM_004304.5(ALK):c.3067+9G>A
|
rs1664016363
|
|
|
NM_004304.5(ALK):c.3067+9G>C
|
|
|
|
NM_004304.5(ALK):c.3067+9G>T
|
rs1664016363
|
|
|
NM_004304.5(ALK):c.3067G>C (p.Val1023Leu)
|
|
|
|
NM_004304.5(ALK):c.3068-11C>T
|
|
|
|
NM_004304.5(ALK):c.3068-13A>G
|
rs1018923976
|
|
|
NM_004304.5(ALK):c.3068-19A>C
|
|
|
|
NM_004304.5(ALK):c.3068-19A>G
|
|
|
|
NM_004304.5(ALK):c.3068-7C>A
|
|
|
|
NM_004304.5(ALK):c.3068-7C>T
|
|
|
|
NM_004304.5(ALK):c.3068-8T>C
|
|
|
|
NM_004304.5(ALK):c.3068-9G>A
|
rs1409418856
|
|
|
NM_004304.5(ALK):c.3068T>G (p.Val1023Gly)
|
|
|
|
NM_004304.5(ALK):c.3075C>T (p.Pro1025=)
|
|
|
|
NM_004304.5(ALK):c.3076A>C (p.Thr1026Pro)
|
rs781515382
|
|
|
NM_004304.5(ALK):c.3077C>A (p.Thr1026Asn)
|
|
|
|
NM_004304.5(ALK):c.3078C>A (p.Thr1026=)
|
rs2148176571
|
|
|
NM_004304.5(ALK):c.307G>A (p.Gly103Arg)
|
rs1321334043
|
|
|
NM_004304.5(ALK):c.3080C>A (p.Pro1027Gln)
|
|
|
|
NM_004304.5(ALK):c.3081G>C (p.Pro1027=)
|
rs747320964
|
|
|
NM_004304.5(ALK):c.3082del (p.Glu1028fs)
|
rs1663951981
|
|
|
NM_004304.5(ALK):c.3085C>T (p.Pro1029Ser)
|
|
|
|
NM_004304.5(ALK):c.3088C>T (p.His1030Tyr)
|
rs1284585137
|
|
|
NM_004304.5(ALK):c.3089_3090delinsTT (p.His1030Leu)
|
|
|
|
NM_004304.5(ALK):c.308G>A (p.Gly103Glu)
|
rs1667960211
|
|
|
NM_004304.5(ALK):c.3090C>A (p.His1030Gln)
|
rs1663946773
|
|
|
NM_004304.5(ALK):c.3090C>G (p.His1030Gln)
|
|
|
|
NM_004304.5(ALK):c.3091C>T (p.Leu1031=)
|
rs755537480
|
|
|
NM_004304.5(ALK):c.3093G>A (p.Leu1031=)
|
|
|
|
NM_004304.5(ALK):c.3093G>C (p.Leu1031=)
|
rs1293404546
|
|
|
NM_004304.5(ALK):c.3093G>T (p.Leu1031=)
|
rs1293404546
|
|
|
NM_004304.5(ALK):c.3095C>A (p.Pro1032Gln)
|
rs752256731
|
|
|
NM_004304.5(ALK):c.3096A>G (p.Pro1032=)
|
|
|
|
NM_004304.5(ALK):c.3098T>A (p.Leu1033His)
|
rs572614173
|
|
|
NM_004304.5(ALK):c.3098T>C (p.Leu1033Pro)
|
rs572614173
|
|
|
NM_004304.5(ALK):c.3098T>G (p.Leu1033Arg)
|
rs572614173
|
|
|
NM_004304.5(ALK):c.3099C>T (p.Leu1033=)
|
|
|
|
NM_004304.5(ALK):c.309G>A (p.Gly103=)
|
|
|
|
NM_004304.5(ALK):c.30G>A (p.Leu10=)
|
|
|
|
NM_004304.5(ALK):c.3101C>A (p.Ser1034Ter)
|
rs900240239
|
|
|
NM_004304.5(ALK):c.3101C>G (p.Ser1034Trp)
|
rs900240239
|
|
|
NM_004304.5(ALK):c.3101C>T (p.Ser1034Leu)
|
rs900240239
|
|
|
NM_004304.5(ALK):c.3106A>G (p.Ile1036Val)
|
rs1663944530
|
|
|
NM_004304.5(ALK):c.3107T>A (p.Ile1036Asn)
|
rs1663944377
|
|
|
NM_004304.5(ALK):c.310C>A (p.Pro104Thr)
|
rs576431612
|
|
|
NM_004304.5(ALK):c.310C>G (p.Pro104Ala)
|
rs576431612
|
|
|
NM_004304.5(ALK):c.3111C>A (p.Leu1037=)
|
|
|
|
NM_004304.5(ALK):c.3111C>G (p.Leu1037=)
|
|
|
|
NM_004304.5(ALK):c.3111C>T (p.Leu1037=)
|
rs1304972455
|
|
|
NM_004304.5(ALK):c.3111_3114del (p.Ser1038fs)
|
rs750796687
|
|
|
NM_004304.5(ALK):c.3115G>C (p.Val1039Leu)
|
rs200080181
|
|
|
NM_004304.5(ALK):c.3115G>T (p.Val1039Leu)
|
rs200080181
|
|
|
NM_004304.5(ALK):c.3116T>C (p.Val1039Ala)
|
rs1663943658
|
|
|
NM_004304.5(ALK):c.3118G>A (p.Val1040Met)
|
rs763143588
|
|
|
NM_004304.5(ALK):c.3118G>T (p.Val1040Leu)
|
rs763143588
|
|
|
NM_004304.5(ALK):c.3119T>G (p.Val1040Gly)
|
|
|
|
NM_004304.5(ALK):c.311C>G (p.Pro104Arg)
|
|
|
|
NM_004304.5(ALK):c.3120G>A (p.Val1040=)
|
rs1553394893
|
|
|
NM_004304.5(ALK):c.3121A>G (p.Thr1041Ala)
|
|
|
|
NM_004304.5(ALK):c.3122C>T (p.Thr1041Ile)
|
rs1365149175
|
|
|
NM_004304.5(ALK):c.3130C>T (p.Leu1044Phe)
|
rs1573128815
|
|
|
NM_004304.5(ALK):c.3132C>A (p.Leu1044=)
|
|
|
|
NM_004304.5(ALK):c.3133G>C (p.Val1045Leu)
|
rs200641396
|
|
|
NM_004304.5(ALK):c.3133_3147del (p.Val1045_Val1049del)
|
rs1573128739
|
|
|
NM_004304.5(ALK):c.3134T>C (p.Val1045Ala)
|
rs1573128792
|
|
|
NM_004304.5(ALK):c.3137C>T (p.Ala1046Val)
|
|
|
|
NM_004304.5(ALK):c.3139G>C (p.Ala1047Pro)
|
|
|
|
NM_004304.5(ALK):c.313G>A (p.Ala105Thr)
|
rs1553380367
|
|
|
NM_004304.5(ALK):c.3140C>G (p.Ala1047Gly)
|
rs1217558142
|
|
|
NM_004304.5(ALK):c.3140C>T (p.Ala1047Val)
|
|
|
|
NM_004304.5(ALK):c.3141C>A (p.Ala1047=)
|
|
|
|
NM_004304.5(ALK):c.3141C>T (p.Ala1047=)
|
|
|
|
NM_004304.5(ALK):c.3145G>A (p.Val1049Ile)
|
rs143452915
|
|
|
NM_004304.5(ALK):c.3147C>T (p.Val1049=)
|
rs2148176361
|
|
|
NM_004304.5(ALK):c.3148C>T (p.Leu1050=)
|
rs2148176357
|
|
|
NM_004304.5(ALK):c.314C>A (p.Ala105Glu)
|
rs772569032
|
|
|
NM_004304.5(ALK):c.314C>G (p.Ala105Gly)
|
|
|
|
NM_004304.5(ALK):c.314C>T (p.Ala105Val)
|
|
|
|
NM_004304.5(ALK):c.3150G>C (p.Leu1050=)
|
|
|
|
NM_004304.5(ALK):c.3151G>T (p.Ala1051Ser)
|
|
|
|
NM_004304.5(ALK):c.3154T>G (p.Phe1052Val)
|
rs1663940813
|
|
|
NM_004304.5(ALK):c.3156C>T (p.Phe1052=)
|
|
|
|
NM_004304.5(ALK):c.3157T>C (p.Ser1053Pro)
|
|
|
|
NM_004304.5(ALK):c.3158C>T (p.Ser1053Phe)
|
rs1663940716
|
|
|
NM_004304.5(ALK):c.315G>C (p.Ala105=)
|
rs897667874
|
|
|
NM_004304.5(ALK):c.315G>T (p.Ala105=)
|
|
|
|
NM_004304.5(ALK):c.3161G>A (p.Gly1054Asp)
|
rs2148176315
|
|
|
NM_004304.5(ALK):c.3161G>T (p.Gly1054Val)
|
rs2148176315
|
|
|
NM_004304.5(ALK):c.3162C>T (p.Gly1054=)
|
|
|
|
NM_004304.5(ALK):c.3163A>T (p.Ile1055Phe)
|
rs755804208
|
|
|
NM_004304.5(ALK):c.3167T>C (p.Met1056Thr)
|
rs2148176295
|
|
|
NM_004304.5(ALK):c.3168G>A (p.Met1056Ile)
|
rs1663940304
|
|
|
NM_004304.5(ALK):c.3172+10C>G
|
|
|
|
NM_004304.5(ALK):c.3172+10C>T
|
rs1573128671
|
|
|
NM_004304.5(ALK):c.3172+10_3172+11del
|
rs374518328
|
|
|
NM_004304.5(ALK):c.3172+15C>T
|
|
|
|
NM_004304.5(ALK):c.3172+17C>G
|
|
|
|
NM_004304.5(ALK):c.3172+18C>G
|
|
|
|
NM_004304.5(ALK):c.3172+18dup
|
|
|
|
NM_004304.5(ALK):c.3172+1G>A
|
rs1558625168
|
|
|
NM_004304.5(ALK):c.3172+20G>T
|
|
|
|
NM_004304.5(ALK):c.3172+6T>C
|
rs2148176274
|
|
|
NM_004304.5(ALK):c.3172+7G>C
|
|
|
|
NM_004304.5(ALK):c.3173-11C>A
|
rs79339096
|
|
|
NM_004304.5(ALK):c.3173-11C>G
|
rs79339096
|
|
|
NM_004304.5(ALK):c.3173-13C>G
|
|
|
|
NM_004304.5(ALK):c.3173-13C>T
|
|
|
|
NM_004304.5(ALK):c.3173-14C>G
|
rs1370170133
|
|
|
NM_004304.5(ALK):c.3173-16G>A
|
|
|
|
NM_004304.5(ALK):c.3173-16G>C
|
|
|
|
NM_004304.5(ALK):c.3173-16G>T
|
|
|
|
NM_004304.5(ALK):c.3173-3C>G
|
rs898517103
|
|
|
NM_004304.5(ALK):c.3173-4G>A
|
rs2148171234
|
|
|
NM_004304.5(ALK):c.3173-6del
|
rs1669868152
|
|
|
NM_004304.5(ALK):c.3173-7C>A
|
|
|
|
NM_004304.5(ALK):c.3173-7C>G
|
|
|
|
NM_004304.5(ALK):c.3173-7C>T
|
rs1669868225
|
|
|
NM_004304.5(ALK):c.3173-8A>C
|
rs1573125720
|
|
|
NM_004304.5(ALK):c.3177C>T (p.Tyr1059=)
|
|
|
|
NM_004304.5(ALK):c.3178C>T (p.Arg1060Cys)
|
rs774836034
|
|
|
NM_004304.5(ALK):c.317C>T (p.Pro106Leu)
|
rs1037485859
|
|
|
NM_004304.5(ALK):c.317dup (p.Val108fs)
|
rs2148443529
|
|
|
NM_004304.5(ALK):c.3180C>G (p.Arg1060=)
|
|
|
|
NM_004304.5(ALK):c.3181C>A (p.Arg1061=)
|
rs371521416
|
|
|
NM_004304.5(ALK):c.3184A>G (p.Lys1062Glu)
|
rs2148171179
|
|
|
NM_004304.5(ALK):c.3187C>A (p.His1063Asn)
|
|
|
|
NM_004304.5(ALK):c.3187C>T (p.His1063Tyr)
|
rs1669867065
|
|
|
NM_004304.5(ALK):c.318G>A (p.Pro106=)
|
rs1298853396
|
|
|
NM_004304.5(ALK):c.318G>C (p.Pro106=)
|
rs1298853396
|
|
|
NM_004304.5(ALK):c.318G>T (p.Pro106=)
|
rs1298853396
|
|
|
NM_004304.5(ALK):c.3192G>A (p.Gln1064=)
|
rs868053991
|
|
|
NM_004304.5(ALK):c.3193_3251dup (p.Arg1084_Thr1085insSerCysLysProCysArgTrpSerCysArgAlaLeuSerThrSerTer)
|
rs2148170992
|
|
|
NM_004304.5(ALK):c.3195G>A (p.Glu1065=)
|
|
|
|
NM_004304.5(ALK):c.3196C>T (p.Leu1066=)
|
rs2148171140
|
|
|
NM_004304.5(ALK):c.3197T>G (p.Leu1066Arg)
|
|
|
|
NM_004304.5(ALK):c.31C>T (p.Pro11Ser)
|
|
|
|
NM_004304.5(ALK):c.3203C>T (p.Ala1068Val)
|
rs754439273
|
|
|
NM_004304.5(ALK):c.3204C>T (p.Ala1068=)
|
|
|
|
NM_004304.5(ALK):c.3205A>G (p.Met1069Val)
|
|
|
|
NM_004304.5(ALK):c.3206T>G (p.Met1069Arg)
|
|
|
|
NM_004304.5(ALK):c.320G>A (p.Gly107Glu)
|
rs762635291
|
|
|
NM_004304.5(ALK):c.3210G>C (p.Gln1070His)
|
|
|
|
NM_004304.5(ALK):c.3212T>C (p.Met1071Thr)
|
rs1669865941
|
|
|
NM_004304.5(ALK):c.3213G>A (p.Met1071Ile)
|
rs1241116907
|
|
|
NM_004304.5(ALK):c.3218T>C (p.Leu1073Pro)
|
|
|
|
NM_004304.5(ALK):c.321G>C (p.Gly107=)
|
rs1353027067
|
|
|
NM_004304.5(ALK):c.3220C>T (p.Gln1074Ter)
|
|
|
|
NM_004304.5(ALK):c.3225C>A (p.Ser1075Arg)
|
rs1669865494
|
|
|
NM_004304.5(ALK):c.3225C>T (p.Ser1075=)
|
|
|
|
NM_004304.5(ALK):c.3229G>A (p.Glu1077Lys)
|
rs1553394491
|
|
|
NM_004304.5(ALK):c.3229G>C (p.Glu1077Gln)
|
|
|
|
NM_004304.5(ALK):c.3229G>T (p.Glu1077Ter)
|
rs1553394491
|
|
|
NM_004304.5(ALK):c.322G>T (p.Val108Phe)
|
rs1338077965
|
|
|
NM_004304.5(ALK):c.3230A>G (p.Glu1077Gly)
|
|
|
|
NM_004304.5(ALK):c.3231G>A (p.Glu1077=)
|
rs2148171039
|
|
|
NM_004304.5(ALK):c.3232T>C (p.Tyr1078His)
|
|
|
|
NM_004304.5(ALK):c.3240G>A (p.Leu1080=)
|
rs760768939
|
|
|
NM_004304.5(ALK):c.3243C>A (p.Ser1081Arg)
|
rs1669864463
|
|
|
NM_004304.5(ALK):c.3243C>G (p.Ser1081Arg)
|
rs1669864463
|
|
|
NM_004304.5(ALK):c.3246G>A (p.Lys1082=)
|
|
|
|
NM_004304.5(ALK):c.3247C>A (p.Leu1083Ile)
|
|
|
|
NM_004304.5(ALK):c.3248T>C (p.Leu1083Pro)
|
|
|
|
NM_004304.5(ALK):c.3249C>T (p.Leu1083=)
|
|
|
|
NM_004304.5(ALK):c.3254C>A (p.Thr1085Asn)
|
rs1460007760
|
|
|
NM_004304.5(ALK):c.3255C>A (p.Thr1085=)
|
rs1372058960
|
|
|
NM_004304.5(ALK):c.3255C>T (p.Thr1085=)
|
rs1372058960
|
|
|
NM_004304.5(ALK):c.3258G>A (p.Ser1086=)
|
rs373589068
|
|
|
NM_004304.5(ALK):c.3258G>T (p.Ser1086=)
|
|
|
|
NM_004304.5(ALK):c.3259A>G (p.Thr1087Ala)
|
|
|
|
NM_004304.5(ALK):c.325T>C (p.Ser109Pro)
|
rs1572503443
|
|
|
NM_004304.5(ALK):c.3260C>A (p.Thr1087Asn)
|
rs113994090
|
|
|
NM_004304.5(ALK):c.3260C>G (p.Thr1087Ser)
|
rs113994090
|
|
|
NM_004304.5(ALK):c.3262A>G (p.Ile1088Val)
|
rs1060500228
|
|
|
NM_004304.5(ALK):c.3264C>A (p.Ile1088=)
|
rs2148170939
|
|
|
NM_004304.5(ALK):c.3265A>G (p.Met1089Val)
|
|
|
|
NM_004304.5(ALK):c.3266T>C (p.Met1089Thr)
|
rs925658268
|
|
|
NM_004304.5(ALK):c.3267G>A (p.Met1089Ile)
|
rs1573125389
|
|
|
NM_004304.5(ALK):c.326C>T (p.Ser109Phe)
|
|
|
|
NM_004304.5(ALK):c.3270C>T (p.Thr1090=)
|
rs746468058
|
|
|
NM_004304.5(ALK):c.3272A>G (p.Asp1091Gly)
|
|
|
|
NM_004304.5(ALK):c.3273C>T (p.Asp1091=)
|
|
|
|
NM_004304.5(ALK):c.3279C>T (p.Asn1093=)
|
rs779601068
|
|
|
NM_004304.5(ALK):c.327C>A (p.Ser109=)
|
|
|
|
NM_004304.5(ALK):c.3281C>T (p.Pro1094Leu)
|
|
|
|
NM_004304.5(ALK):c.3282C>G (p.Pro1094=)
|
rs187005015
|
|
|
NM_004304.5(ALK):c.3287_3292del (p.Tyr1096_Cys1097del)
|
|
|
|
NM_004304.5(ALK):c.3288C>T (p.Tyr1096=)
|
rs1361786352
|
|
|
NM_004304.5(ALK):c.3289T>C (p.Cys1097Arg)
|
rs1553394453
|
|
|
NM_004304.5(ALK):c.328T>A (p.Trp110Arg)
|
rs1572503431
|
|
|
NM_004304.5(ALK):c.328T>C (p.Trp110Arg)
|
rs1572503431
|
|
|
NM_004304.5(ALK):c.3290G>A (p.Cys1097Tyr)
|
|
|
|
NM_004304.5(ALK):c.3291C>G (p.Cys1097Trp)
|
|
|
|
NM_004304.5(ALK):c.3294T>A (p.Phe1098Leu)
|
rs566982691
|
|
|
NM_004304.5(ALK):c.3295G>A (p.Ala1099Thr)
|
rs1669861611
|
|
|
NM_004304.5(ALK):c.3299G>A (p.Gly1100Asp)
|
rs1669861474
|
|
|
NM_004304.5(ALK):c.3300C>G (p.Gly1100=)
|
rs752819935
|
|
|
NM_004304.5(ALK):c.3305C>A (p.Thr1102Asn)
|
|
|
|
NM_004304.5(ALK):c.3305C>G (p.Thr1102Ser)
|
|
|
|
NM_004304.5(ALK):c.3306C>G (p.Thr1102=)
|
rs767673065
|
|
|
NM_004304.5(ALK):c.3307T>C (p.Ser1103Pro)
|
rs1669861057
|
|
|
NM_004304.5(ALK):c.3307T>G (p.Ser1103Ala)
|
|
|
|
NM_004304.5(ALK):c.3307TCC[1] (p.Ser1104del)
|
rs1338813327
|
|
|
NM_004304.5(ALK):c.3309C>G (p.Ser1103=)
|
|
|
|
NM_004304.5(ALK):c.330G>T (p.Trp110Cys)
|
|
|
|
NM_004304.5(ALK):c.3310T>A (p.Ser1104Thr)
|
rs759935726
|
|
|
NM_004304.5(ALK):c.3310T>C (p.Ser1104Pro)
|
|
|
|
NM_004304.5(ALK):c.3313_3316dup (p.Ser1106fs)
|
|
|
|
NM_004304.5(ALK):c.3314_3316dup (p.Ile1105dup)
|
rs1373907084
|
|
|
NM_004304.5(ALK):c.3316A>C (p.Ser1106Arg)
|
|
|
|
NM_004304.5(ALK):c.3321C>A (p.Asp1107Glu)
|
rs1553394438
|
|
|
NM_004304.5(ALK):c.3321C>T (p.Asp1107=)
|
|
|
|
NM_004304.5(ALK):c.3322C>A (p.Leu1108Met)
|
|
|
|
NM_004304.5(ALK):c.3322C>G (p.Leu1108Val)
|
rs1669860335
|
|
|
NM_004304.5(ALK):c.3324G>A (p.Leu1108=)
|
|
|
|
NM_004304.5(ALK):c.3327G>A (p.Lys1109=)
|
|
|
|
NM_004304.5(ALK):c.3328G>A (p.Glu1110Lys)
|
|
|
|
NM_004304.5(ALK):c.332C>G (p.Thr111Ser)
|
|
|
|
NM_004304.5(ALK):c.332C>T (p.Thr111Ile)
|
rs1667958706
|
|
|
NM_004304.5(ALK):c.3330G>A (p.Glu1110=)
|
|
|
|
NM_004304.5(ALK):c.3331G>A (p.Val1111Met)
|
|
|
|
NM_004304.5(ALK):c.3332T>C (p.Val1111Ala)
|
rs558282902
|
|
|
NM_004304.5(ALK):c.3333G>A (p.Val1111=)
|
rs1179566480
|
|
|
NM_004304.5(ALK):c.3334C>A (p.Pro1112Thr)
|
|
|
|
NM_004304.5(ALK):c.3334C>G (p.Pro1112Ala)
|
|
|
|
NM_004304.5(ALK):c.3334C>T (p.Pro1112Ser)
|
rs2148170705
|
|
|
NM_004304.5(ALK):c.3336G>C (p.Pro1112=)
|
|
|
|
NM_004304.5(ALK):c.3336G>T (p.Pro1112=)
|
rs146074150
|
|
|
NM_004304.5(ALK):c.3337C>G (p.Arg1113Gly)
|
rs773583710
|
|
|
NM_004304.5(ALK):c.3337C>T (p.Arg1113Trp)
|
rs773583710
|
|
|
NM_004304.5(ALK):c.333C>G (p.Thr111=)
|
|
|
|
NM_004304.5(ALK):c.3341A>G (p.Lys1114Arg)
|
|
|
|
NM_004304.5(ALK):c.3345C>T (p.Asn1115=)
|
|
|
|
NM_004304.5(ALK):c.3348C>T (p.Ile1116=)
|
|
|
|
NM_004304.5(ALK):c.334G>A (p.Ala112Thr)
|
rs1060500227
|
|
|
NM_004304.5(ALK):c.334G>C (p.Ala112Pro)
|
rs1060500227
|
|
|
NM_004304.5(ALK):c.3350C>A (p.Thr1117Asn)
|
rs1669859051
|
|
|
NM_004304.5(ALK):c.3350C>T (p.Thr1117Ile)
|
rs1669859051
|
|
|
NM_004304.5(ALK):c.3351C>T (p.Thr1117=)
|
|
|
|
NM_004304.5(ALK):c.3352C>G (p.Leu1118Val)
|
rs1472845031
|
|
|
NM_004304.5(ALK):c.3352C>T (p.Leu1118Phe)
|
|
|
|
NM_004304.5(ALK):c.3354C>G (p.Leu1118=)
|
|
|
|
NM_004304.5(ALK):c.3354C>T (p.Leu1118=)
|
rs371592787
|
|
|
NM_004304.5(ALK):c.3357T>C (p.Ile1119=)
|
|
|
|
NM_004304.5(ALK):c.3358C>A (p.Arg1120=)
|
rs774951734
|
|
|
NM_004304.5(ALK):c.3359+12G>A
|
rs2148170566
|
|
|
NM_004304.5(ALK):c.3359+12G>T
|
|
|
|
NM_004304.5(ALK):c.3359+16C>A
|
|
|
|
NM_004304.5(ALK):c.3359+16C>T
|
|
|
|
NM_004304.5(ALK):c.3359+16_3359+27del
|
|
|
|
NM_004304.5(ALK):c.3359+17C>A
|
rs200832204
|
|
|
NM_004304.5(ALK):c.3359+1G>A
|
rs1669858309
|
|
|
NM_004304.5(ALK):c.3359+1G>T
|
rs1669858309
|
|
|
NM_004304.5(ALK):c.3359+3G>A
|
|
|
|
NM_004304.5(ALK):c.3359+4A>G
|
rs1573125072
|
|
|
NM_004304.5(ALK):c.3359+9C>T
|
rs2148170575
|
|
|
NM_004304.5(ALK):c.3359G>A (p.Arg1120Gln)
|
rs374188635
|
|
|
NM_004304.5(ALK):c.335C>A (p.Ala112Asp)
|
|
|
|
NM_004304.5(ALK):c.3360-11C>G
|
|
|
|
NM_004304.5(ALK):c.3360-11C>T
|
rs1191359394
|
|
|
NM_004304.5(ALK):c.3360-11_3360-9del
|
|
|
|
NM_004304.5(ALK):c.3360-12T>C
|
|
|
|
NM_004304.5(ALK):c.3360-12del
|
rs2148169485
|
|
|
NM_004304.5(ALK):c.3360-13C>T
|
|
|
|
NM_004304.5(ALK):c.3360-16C>T
|
rs2148169494
|
|
|
NM_004304.5(ALK):c.3360-17T>C
|
rs1669837765
|
|
|
NM_004304.5(ALK):c.3360-1G>A
|
rs1573123877
|
|
|
NM_004304.5(ALK):c.3360-1G>T
|
rs1573123877
|
|
|
NM_004304.5(ALK):c.3360-20T>C
|
rs2148169505
|
|
|
NM_004304.5(ALK):c.3360-3C>T
|
rs1464715041
|
|
|
NM_004304.5(ALK):c.3360-4del
|
|
|
|
NM_004304.5(ALK):c.3360-5C>A
|
|
|
|
NM_004304.5(ALK):c.3360-8T>C
|
|
|
|
NM_004304.5(ALK):c.3360G>A (p.Arg1120=)
|
rs747985440
|
|
|
NM_004304.5(ALK):c.3360G>C (p.Arg1120=)
|
|
|
|
NM_004304.5(ALK):c.3361G>C (p.Gly1121Arg)
|
|
|
|
NM_004304.5(ALK):c.3362G>T (p.Gly1121Val)
|
|
|
|
NM_004304.5(ALK):c.336C>A (p.Ala112=)
|
rs776604754
|
|
|
NM_004304.5(ALK):c.336C>T (p.Ala112=)
|
rs776604754
|
|
|
NM_004304.5(ALK):c.3375C>T (p.Gly1125=)
|
rs3795850
|
|
|
NM_004304.5(ALK):c.3376G>C (p.Ala1126Pro)
|
|
|
|
NM_004304.5(ALK):c.3377C>A (p.Ala1126Asp)
|
|
|
|
NM_004304.5(ALK):c.337G>A (p.Gly113Ser)
|
rs748952373
|
|
|
NM_004304.5(ALK):c.337G>C (p.Gly113Arg)
|
|
|
|
NM_004304.5(ALK):c.3380T>C (p.Phe1127Ser)
|
|
|
|
NM_004304.5(ALK):c.3383G>A (p.Gly1128Glu)
|
|
|
|
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)
|
rs113994088
|
|
|
NM_004304.5(ALK):c.3385G>A (p.Glu1129Lys)
|
|
|
|
NM_004304.5(ALK):c.3387G>T (p.Glu1129Asp)
|
|
|
|
NM_004304.5(ALK):c.3388G>A (p.Val1130Met)
|
rs1060500215
|
|
|
NM_004304.5(ALK):c.3388G>T (p.Val1130Leu)
|
rs1060500215
|
|
|
NM_004304.5(ALK):c.338G>A (p.Gly113Asp)
|
|
|
|
NM_004304.5(ALK):c.338G>T (p.Gly113Val)
|
rs1479433859
|
|
|
NM_004304.5(ALK):c.3390G>A (p.Val1130=)
|
rs1573123747
|
|
|
NM_004304.5(ALK):c.3391T>G (p.Tyr1131Asp)
|
|
|
|
NM_004304.5(ALK):c.3392_3406del (p.Tyr1131_Val1135del)
|
rs2148169260
|
|
|
NM_004304.5(ALK):c.3398G>T (p.Gly1133Val)
|
rs773881309
|
|
|
NM_004304.5(ALK):c.3399C>T (p.Gly1133=)
|
rs1294436101
|
|
|
NM_004304.5(ALK):c.339T>G (p.Gly113=)
|
|
|
|
NM_004304.5(ALK):c.33G>A (p.Pro11=)
|
rs774442098
|
|
|
NM_004304.5(ALK):c.33G>T (p.Pro11=)
|
rs774442098
|
|
|
NM_004304.5(ALK):c.3401A>T (p.Gln1134Leu)
|
rs1172239019
|
|
|
NM_004304.5(ALK):c.3403G>T (p.Val1135Leu)
|
rs2148169270
|
|
|
NM_004304.5(ALK):c.3404T>C (p.Val1135Ala)
|
rs2148169266
|
|
|
NM_004304.5(ALK):c.3406T>G (p.Ser1136Ala)
|
rs1669834540
|
|
|
NM_004304.5(ALK):c.3409G>C (p.Gly1137Arg)
|
rs762571775
|
|
|
NM_004304.5(ALK):c.340del (p.Ser114fs)
|
rs1667958140
|
|
|
NM_004304.5(ALK):c.3410G>A (p.Gly1137Glu)
|
rs1669834120
|
|
|
NM_004304.5(ALK):c.3413T>C (p.Met1138Thr)
|
rs2148169223
|
|
|
NM_004304.5(ALK):c.3413T>G (p.Met1138Arg)
|
|
|
|
NM_004304.5(ALK):c.3414G>A (p.Met1138Ile)
|
|
|
|
NM_004304.5(ALK):c.3419A>G (p.Asn1140Ser)
|
rs2148169203
|
|
|
NM_004304.5(ALK):c.3420C>A (p.Asn1140Lys)
|
rs150785816
|
|
|
NM_004304.5(ALK):c.3420C>G (p.Asn1140Lys)
|
rs150785816
|
|
|
NM_004304.5(ALK):c.3420C>T (p.Asn1140=)
|
rs150785816
|
|
|
NM_004304.5(ALK):c.3428G>T (p.Ser1143Ile)
|
rs1669833411
|
|
|
NM_004304.5(ALK):c.3429C>T (p.Ser1143=)
|
rs1203831222
|
|
|
NM_004304.5(ALK):c.342A>G (p.Ser114=)
|
rs1572503392
|
|
|
NM_004304.5(ALK):c.3431C>G (p.Pro1144Arg)
|
|
|
|
NM_004304.5(ALK):c.3433C>T (p.Leu1145=)
|
|
|
|
NM_004304.5(ALK):c.3435G>A (p.Leu1145=)
|
|
|
|
NM_004304.5(ALK):c.3436C>A (p.Gln1146Lys)
|
rs2148169149
|
|
|
NM_004304.5(ALK):c.3437A>T (p.Gln1146Leu)
|
|
|
|
NM_004304.5(ALK):c.3439G>C (p.Val1147Leu)
|
rs1378239568
|
|
|
NM_004304.5(ALK):c.3440T>C (p.Val1147Ala)
|
rs1669832761
|
|
|
NM_004304.5(ALK):c.3441G>T (p.Val1147=)
|
rs1669832691
|
|
|
NM_004304.5(ALK):c.3445G>A (p.Val1149Met)
|
|
|
|
NM_004304.5(ALK):c.3445G>C (p.Val1149Leu)
|
rs1669832449
|
|
|
NM_004304.5(ALK):c.3445_3450+13dup
|
|
|
|
NM_004304.5(ALK):c.3446T>C (p.Val1149Ala)
|
|
|
|
NM_004304.5(ALK):c.3449A>C (p.Lys1150Thr)
|
rs2148169104
|
|
|
NM_004304.5(ALK):c.344C>G (p.Pro115Arg)
|
rs1222939884
|
|
|
NM_004304.5(ALK):c.3450+10G>A
|
rs2148169071
|
|
|
NM_004304.5(ALK):c.3450+11G>T
|
rs2148169065
|
|
|
NM_004304.5(ALK):c.3450+12C>T
|
rs1669831571
|
|
|
NM_004304.5(ALK):c.3450+14C>G
|
|
|
|
NM_004304.5(ALK):c.3450+14C>T
|
|
|
|
NM_004304.5(ALK):c.3450+16C>T
|
rs1669831430
|
|
|
NM_004304.5(ALK):c.3450+19_3450+20del
|
|
|
|
NM_004304.5(ALK):c.3450+3A>G
|
|
|
|
NM_004304.5(ALK):c.3450+4A>G
|
|
|
|
NM_004304.5(ALK):c.3450+5G>A
|
|
|
|
NM_004304.5(ALK):c.3450+6A>G
|
|
|
|
NM_004304.5(ALK):c.3450+6_3450+7delinsTG
|
rs2148169081
|
|
|
NM_004304.5(ALK):c.3450+6_3450+8del
|
rs2148169076
|
|
|
NM_004304.5(ALK):c.3450+7A>G
|
rs1553394250
|
|
|
NM_004304.5(ALK):c.3450G>A (p.Lys1150=)
|
rs1558622960
|
|
|
NM_004304.5(ALK):c.3450_3450+1delinsTT
|
rs1553394254
|
|
|
NM_004304.5(ALK):c.3451-13C>T
|
|
|
|
NM_004304.5(ALK):c.3451-13dup
|
|
|
|
NM_004304.5(ALK):c.3451-14C>G
|
rs2148168812
|
|
|
NM_004304.5(ALK):c.3451-17T>G
|
|
|
|
NM_004304.5(ALK):c.3451-18del
|
|
|
|
NM_004304.5(ALK):c.3451-19C>A
|
|
|
|
NM_004304.5(ALK):c.3451-19C>T
|
|
|
|
NM_004304.5(ALK):c.3451-3C>T
|
|
|
|
NM_004304.5(ALK):c.3451-6G>A
|
|
|
|
NM_004304.5(ALK):c.3451-8C>T
|
rs1305183150
|
|
|
NM_004304.5(ALK):c.3451A>C (p.Thr1151Pro)
|
rs1669828114
|
|
|
NM_004304.5(ALK):c.3452C>A (p.Thr1151Lys)
|
|
|
|
NM_004304.5(ALK):c.3455T>A (p.Leu1152Gln)
|
|
|
|
NM_004304.5(ALK):c.3456G>A (p.Leu1152=)
|
|
|
|
NM_004304.5(ALK):c.3458C>G (p.Pro1153Arg)
|
rs917295547
|
|
|
NM_004304.5(ALK):c.3460G>A (p.Glu1154Lys)
|
rs1005846150
|
|
|
NM_004304.5(ALK):c.3460G>C (p.Glu1154Gln)
|
rs1005846150
|
|
|
NM_004304.5(ALK):c.3461A>C (p.Glu1154Ala)
|
rs1669827472
|
|
|
NM_004304.5(ALK):c.3463G>A (p.Val1155Met)
|
|
|
|
NM_004304.5(ALK):c.3464T>C (p.Val1155Ala)
|
rs1669827315
|
|
|
NM_004304.5(ALK):c.3465G>A (p.Val1155=)
|
rs2148168706
|
|
|
NM_004304.5(ALK):c.3466T>G (p.Cys1156Gly)
|
|
|
|
NM_004304.5(ALK):c.3469T>C (p.Ser1157Pro)
|
rs1669827171
|
|
|
NM_004304.5(ALK):c.3471T>C (p.Ser1157=)
|
rs758185429
|
|
|
NM_004304.5(ALK):c.3472G>A (p.Glu1158Lys)
|
rs749951867
|
|
|
NM_004304.5(ALK):c.347C>A (p.Ala116Asp)
|
rs1572503383
|
|
|
NM_004304.5(ALK):c.347C>T (p.Ala116Val)
|
rs1572503383
|
|
|
NM_004304.5(ALK):c.347_357del (p.Ala116fs)
|
rs1572503347
|
|
|
NM_004304.5(ALK):c.3480C>T (p.Asp1160=)
|
rs888578421
|
|
|
NM_004304.5(ALK):c.3481_3482delinsAC (p.Glu1161Thr)
|
rs1553394207
|
|
|
NM_004304.5(ALK):c.3484C>T (p.Leu1162=)
|
|
|
|
NM_004304.5(ALK):c.3487G>C (p.Asp1163His)
|
rs753670250
|
|
|
NM_004304.5(ALK):c.348C>A (p.Ala116=)
|
|
|
|
NM_004304.5(ALK):c.3492C>T (p.Phe1164=)
|
rs2148168619
|
|
|
NM_004304.5(ALK):c.3495C>T (p.Leu1165=)
|
rs764123976
|
|
|
NM_004304.5(ALK):c.3499G>A (p.Glu1167Lys)
|
|
|
|
NM_004304.5(ALK):c.349C>G (p.Pro117Ala)
|
|
|
|
NM_004304.5(ALK):c.34C>T (p.Leu12=)
|
rs2148444097
|
|
|
NM_004304.5(ALK):c.3504C>G (p.Ala1168=)
|
|
|
|
NM_004304.5(ALK):c.3507G>A (p.Leu1169=)
|
rs2148168572
|
|
|
NM_004304.5(ALK):c.3507_3509del (p.Ile1171del)
|
|
|
|
NM_004304.5(ALK):c.3509T>A (p.Ile1170Asn)
|
rs1553394197
|
|
|
NM_004304.5(ALK):c.350C>A (p.Pro117Gln)
|
|
|
|
NM_004304.5(ALK):c.350C>T (p.Pro117Leu)
|
rs201290745
|
|
|
NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr)
|
rs1057519698
|
|
|
NM_004304.5(ALK):c.3514A>C (p.Ser1172Arg)
|
|
|
|
NM_004304.5(ALK):c.3514A>T (p.Ser1172Cys)
|
rs1669825339
|
|
|
NM_004304.5(ALK):c.3515+12G>A
|
|
|
|
NM_004304.5(ALK):c.3515+12GA[2]
|
rs1669825028
|
|
|
NM_004304.5(ALK):c.3515+13A>G
|
|
|
|
NM_004304.5(ALK):c.3515+14G>A
|
|
|
|
NM_004304.5(ALK):c.3515+14G>C
|
|
|
|
NM_004304.5(ALK):c.3515+15A>G
|
rs111982937
|
|
|
NM_004304.5(ALK):c.3515+16G>A
|
rs2148168446
|
|
|
NM_004304.5(ALK):c.3515+16G>C
|
|
|
|
NM_004304.5(ALK):c.3515+17A>G
|
|
|
|
NM_004304.5(ALK):c.3515+19_3515+20del
|
|
|
|
NM_004304.5(ALK):c.3515+2T>C
|
|
|
|
NM_004304.5(ALK):c.3515+7C>A
|
|
|
|
NM_004304.5(ALK):c.3516-10T>A
|
rs2148166765
|
|
|
NM_004304.5(ALK):c.3516-10T>C
|
|
|
|
NM_004304.5(ALK):c.3516-15C>T
|
|
|
|
NM_004304.5(ALK):c.3516-15CT[2]
|
|
|
|
NM_004304.5(ALK):c.3516-16C>A
|
|
|
|
NM_004304.5(ALK):c.3516-17C>T
|
|
|
|
NM_004304.5(ALK):c.3516-1G>A
|
|
|
|
NM_004304.5(ALK):c.3516-28_3516-14del
|
rs2148166778
|
|
|
NM_004304.5(ALK):c.3516-2A>C
|
|
|
|
NM_004304.5(ALK):c.3516-4G>A
|
rs1177192411
|
|
|
NM_004304.5(ALK):c.3516-6C>T
|
|
|
|
NM_004304.5(ALK):c.3516-9G>T
|
rs777242640
|
|
|
NM_004304.5(ALK):c.351G>A (p.Pro117=)
|
rs1049747209
|
|
|
NM_004304.5(ALK):c.351G>C (p.Pro117=)
|
rs1049747209
|
|
|
NM_004304.5(ALK):c.351G>T (p.Pro117=)
|
rs1049747209
|
|
|
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)
|
rs281864719
|
|
|
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)
|
rs281864719
|
|
|
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)
|
rs281864719
|
|
|
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)
|
rs863225281
|
|
|
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)
|
rs863225281
|
|
|
NM_004304.5(ALK):c.3526C>A (p.His1176Asn)
|
rs1553393928
|
|
|
NM_004304.5(ALK):c.3528C>T (p.His1176=)
|
|
|
|
NM_004304.5(ALK):c.3529C>G (p.Gln1177Glu)
|
|
|
|
NM_004304.5(ALK):c.352G>T (p.Ala118Ser)
|
rs1383948379
|
|
|
NM_004304.5(ALK):c.3530A>C (p.Gln1177Pro)
|
rs1060500229
|
|
|
NM_004304.5(ALK):c.3536T>C (p.Ile1179Thr)
|
rs2148166668
|
|
|
NM_004304.5(ALK):c.3537T>C (p.Ile1179=)
|
rs2148166662
|
|
|
NM_004304.5(ALK):c.3537dup (p.Val1180fs)
|
rs2148166666
|
|
|
NM_004304.5(ALK):c.3538G>A (p.Val1180Ile)
|
|
|
|
NM_004304.5(ALK):c.3540T>C (p.Val1180=)
|
rs2148166648
|
|
|
NM_004304.5(ALK):c.3542G>A (p.Arg1181His)
|
rs1034835558
|
|
|
NM_004304.5(ALK):c.3545G>A (p.Cys1182Tyr)
|
|
|
|
NM_004304.5(ALK):c.3549T>G (p.Ile1183Met)
|
rs1573120422
|
|
|
NM_004304.5(ALK):c.354A>C (p.Ala118=)
|
rs779794415
|
|
|
NM_004304.5(ALK):c.354A>G (p.Ala118=)
|
rs779794415
|
|
|
NM_004304.5(ALK):c.3552G>A (p.Gly1184=)
|
|
|
|
NM_004304.5(ALK):c.3552G>C (p.Gly1184=)
|
rs878854655
|
|
|
NM_004304.5(ALK):c.3553del (p.Gly1184_Val1185insTer)
|
|
|
|
NM_004304.5(ALK):c.3555G>T (p.Val1185=)
|
rs777309744
|
|
|
NM_004304.5(ALK):c.3556A>T (p.Ser1186Cys)
|
|
|
|
NM_004304.5(ALK):c.3557G>A (p.Ser1186Asn)
|
rs755576991
|
|
|
NM_004304.5(ALK):c.355G>A (p.Glu119Lys)
|
rs1572503350
|
|
|
NM_004304.5(ALK):c.3563A>G (p.Gln1188Arg)
|
rs1669781212
|
|
|
NM_004304.5(ALK):c.3568del (p.Leu1190fs)
|
|
|
|
NM_004304.5(ALK):c.3569T>C (p.Leu1190Pro)
|
rs1669780974
|
|
|
NM_004304.5(ALK):c.3571C>A (p.Pro1191Thr)
|
|
|
|
NM_004304.5(ALK):c.3573C>T (p.Pro1191=)
|
|
|
|
NM_004304.5(ALK):c.3574C>A (p.Arg1192=)
|
rs534852056
|
|
|
NM_004304.5(ALK):c.3574C>G (p.Arg1192Gly)
|
rs534852056
|
|
|
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)
|
rs113994089
|
|
|
NM_004304.5(ALK):c.3576G>T (p.Arg1192=)
|
rs1553393901
|
|
|
NM_004304.5(ALK):c.3578T>C (p.Phe1193Ser)
|
|
|
|
NM_004304.5(ALK):c.3579C>G (p.Phe1193Leu)
|
|
|
|
NM_004304.5(ALK):c.357G>C (p.Glu119Asp)
|
rs758250431
|
|
|
NM_004304.5(ALK):c.3582C>T (p.Ile1194=)
|
rs1573120317
|
|
|
NM_004304.5(ALK):c.3585G>A (p.Leu1195=)
|
rs2148166518
|
|
|
NM_004304.5(ALK):c.3585G>C (p.Leu1195=)
|
|
|
|
NM_004304.5(ALK):c.3585G>T (p.Leu1195=)
|
|
|
|
NM_004304.5(ALK):c.3586C>T (p.Leu1196=)
|
|
|
|
NM_004304.5(ALK):c.3587T>C (p.Leu1196Pro)
|
rs1669780202
|
|
|
NM_004304.5(ALK):c.358G>A (p.Ala120Thr)
|
|
|
|
NM_004304.5(ALK):c.3592C>A (p.Leu1198Ile)
|
rs751306825
|
|
|
NM_004304.5(ALK):c.3595A>C (p.Met1199Leu)
|
rs1400239417
|
|
|
NM_004304.5(ALK):c.3597G>A (p.Met1199Ile)
|
rs1669779479
|
|
|
NM_004304.5(ALK):c.3597G>T (p.Met1199Ile)
|
rs1669779479
|
|
|
NM_004304.5(ALK):c.3599C>G (p.Ala1200Gly)
|
rs200585833
|
|
|
NM_004304.5(ALK):c.359C>A (p.Ala120Asp)
|
|
|
|
NM_004304.5(ALK):c.359C>T (p.Ala120Val)
|
|
|
|
NM_004304.5(ALK):c.35T>C (p.Leu12Pro)
|
rs1165737526
|
|
|
NM_004304.5(ALK):c.3600G>A (p.Ala1200=)
|
rs56247462
|
|
|
NM_004304.5(ALK):c.3600G>C (p.Ala1200=)
|
rs56247462
|
|
|
NM_004304.5(ALK):c.3600G>T (p.Ala1200=)
|
rs56247462
|
|
|
NM_004304.5(ALK):c.3601G>A (p.Gly1201Arg)
|
|
|
|
NM_004304.5(ALK):c.3601G>C (p.Gly1201Arg)
|
rs761333959
|
|
|
NM_004304.5(ALK):c.3601G>T (p.Gly1201Trp)
|
|
|
|
NM_004304.5(ALK):c.3601_3602insA (p.Gly1201fs)
|
|
|
|
NM_004304.5(ALK):c.3602G>A (p.Gly1201Glu)
|
rs1187025942
|
|
|
NM_004304.5(ALK):c.3602G>C (p.Gly1201Ala)
|
|
|
|
NM_004304.5(ALK):c.3603G>A (p.Gly1201=)
|
|
|
|
NM_004304.5(ALK):c.3603G>C (p.Gly1201=)
|
|
|
|
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg)
|
rs1057519783
|
|
|
NM_004304.5(ALK):c.3604G>C (p.Gly1202Arg)
|
|
|
|
NM_004304.5(ALK):c.3605G>A (p.Gly1202Glu)
|
|
|
|
NM_004304.5(ALK):c.3605G>C (p.Gly1202Ala)
|
|
|
|
NM_004304.5(ALK):c.3605dup (p.Asp1203fs)
|
rs1573120189
|
|
|
NM_004304.5(ALK):c.3606A>C (p.Gly1202=)
|
|
|
|
NM_004304.5(ALK):c.3606A>T (p.Gly1202=)
|
|
|
|
NM_004304.5(ALK):c.3607G>C (p.Asp1203His)
|
rs759845895
|
|
|
NM_004304.5(ALK):c.3608A>C (p.Asp1203Ala)
|
|
|
|
NM_004304.5(ALK):c.3608A>G (p.Asp1203Gly)
|
|
|
|
NM_004304.5(ALK):c.3609C>A (p.Asp1203Glu)
|
rs2148166410
|
|
|
NM_004304.5(ALK):c.360C>G (p.Ala120=)
|
rs2148443423
|
|
|
NM_004304.5(ALK):c.360C>T (p.Ala120=)
|
rs2148443423
|
|
|
NM_004304.5(ALK):c.3610C>T (p.Leu1204Phe)
|
|
|
|
NM_004304.5(ALK):c.3614A>G (p.Lys1205Arg)
|
|
|
|
NM_004304.5(ALK):c.3616T>G (p.Ser1206Ala)
|
|
|
|
NM_004304.5(ALK):c.3618C>T (p.Ser1206=)
|
rs2148166379
|
|
|
NM_004304.5(ALK):c.361C>A (p.Arg121=)
|
rs746089013
|
|
|
NM_004304.5(ALK):c.361C>G (p.Arg121Gly)
|
|
|
|
NM_004304.5(ALK):c.361C>T (p.Arg121Trp)
|
rs746089013
|
|
|
NM_004304.5(ALK):c.3620T>C (p.Phe1207Ser)
|
|
|
|
NM_004304.5(ALK):c.3622C>T (p.Leu1208Phe)
|
|
|
|
NM_004304.5(ALK):c.3626G>C (p.Arg1209Pro)
|
rs747643140
|
|
|
NM_004304.5(ALK):c.3629A>T (p.Glu1210Val)
|
|
|
|
NM_004304.5(ALK):c.362G>C (p.Arg121Pro)
|
|
|
|
NM_004304.5(ALK):c.3631A>C (p.Thr1211Pro)
|
|
|
|
NM_004304.5(ALK):c.3632C>T (p.Thr1211Ile)
|
|
|
|
NM_004304.5(ALK):c.3634C>A (p.Arg1212Ser)
|
|
|
|
NM_004304.5(ALK):c.3635G>A (p.Arg1212His)
|
rs143790259
|
|
|
NM_004304.5(ALK):c.3635G>C (p.Arg1212Pro)
|
rs143790259
|
|
|
NM_004304.5(ALK):c.3637C>A (p.Pro1213Thr)
|
|
|
|
NM_004304.5(ALK):c.3637C>G (p.Pro1213Ala)
|
|
|
|
NM_004304.5(ALK):c.3639T>A (p.Pro1213=)
|
|
|
|
NM_004304.5(ALK):c.363G>A (p.Arg121=)
|
|
|
|
NM_004304.5(ALK):c.3640C>A (p.Arg1214Ser)
|
|
|
|
NM_004304.5(ALK):c.3642C>G (p.Arg1214=)
|
rs1394591243
|
|
|
NM_004304.5(ALK):c.3643C>T (p.Pro1215Ser)
|
|
|
|
NM_004304.5(ALK):c.3644C>T (p.Pro1215Leu)
|
rs779222532
|
|
|
NM_004304.5(ALK):c.3645+12C>A
|
|
|
|
NM_004304.5(ALK):c.3645+12C>G
|
|
|
|
NM_004304.5(ALK):c.3645+13C>T
|
|
|
|
NM_004304.5(ALK):c.3645+15G>A
|
|
|
|
NM_004304.5(ALK):c.3645+15G>C
|
|
|
|
NM_004304.5(ALK):c.3645+2T>G
|
rs1553393848
|
|
|
NM_004304.5(ALK):c.3645+6_3645+9del
|
rs780363656
|
|
|
NM_004304.5(ALK):c.3645+7G>A
|
rs1060503876
|
|
|
NM_004304.5(ALK):c.3645+9G>C
|
rs2148166225
|
|
|
NM_004304.5(ALK):c.3646-11T>C
|
|
|
|
NM_004304.5(ALK):c.3646-13T>C
|
rs2148159628
|
|
|
NM_004304.5(ALK):c.3646-14_3646-13del
|
|
|
|
NM_004304.5(ALK):c.3646-17C>A
|
|
|
|
NM_004304.5(ALK):c.3646-17C>T
|
|
|
|
NM_004304.5(ALK):c.3646-19C>G
|
rs368380756
|
|
|
NM_004304.5(ALK):c.3646-20C>A
|
rs778921889
|
|
|
NM_004304.5(ALK):c.3646-20C>T
|
|
|
|
NM_004304.5(ALK):c.3646-3C>G
|
rs1060500208
|
|
|
NM_004304.5(ALK):c.3646-3C>T
|
rs1060500208
|
|
|
NM_004304.5(ALK):c.3646-5C>T
|
rs1444967093
|
|
|
NM_004304.5(ALK):c.3646-6C>T
|
|
|
|
NM_004304.5(ALK):c.3646-9T>C
|
|
|
|
NM_004304.5(ALK):c.3648C>T (p.Ser1216=)
|
|
|
|
NM_004304.5(ALK):c.3649C>G (p.Gln1217Glu)
|
rs1669536093
|
|
|
NM_004304.5(ALK):c.364A>G (p.Thr122Ala)
|
rs1558549790
|
|
|
NM_004304.5(ALK):c.3650A>G (p.Gln1217Arg)
|
|
|
|
NM_004304.5(ALK):c.3653C>G (p.Pro1218Arg)
|
rs1159709305
|
|
|
NM_004304.5(ALK):c.3653C>T (p.Pro1218Leu)
|
rs1159709305
|
|
|
NM_004304.5(ALK):c.3654C>T (p.Pro1218=)
|
|
|
|
NM_004304.5(ALK):c.365C>G (p.Thr122Arg)
|
rs1367800764
|
|
|
NM_004304.5(ALK):c.3663G>A (p.Leu1221=)
|
rs751889072
|
|
|
NM_004304.5(ALK):c.3664G>A (p.Ala1222Thr)
|
|
|
|
NM_004304.5(ALK):c.3664G>C (p.Ala1222Pro)
|
rs1060500207
|
|
|
NM_004304.5(ALK):c.3665C>A (p.Ala1222Asp)
|
rs2148159538
|
|
|
NM_004304.5(ALK):c.3666C>T (p.Ala1222=)
|
rs1053645006
|
|
|
NM_004304.5(ALK):c.3667A>C (p.Met1223Leu)
|
rs1573108993
|
|
|
NM_004304.5(ALK):c.3667A>T (p.Met1223Leu)
|
rs1573108993
|
|
|
NM_004304.5(ALK):c.3668T>C (p.Met1223Thr)
|
|
|
|
NM_004304.5(ALK):c.3669G>C (p.Met1223Ile)
|
|
|
|
NM_004304.5(ALK):c.3670C>T (p.Leu1224=)
|
|
|
|
NM_004304.5(ALK):c.3675C>T (p.Asp1225=)
|
|
|
|
NM_004304.5(ALK):c.3676C>T (p.Leu1226Phe)
|
|
|
|
NM_004304.5(ALK):c.3678T>C (p.Leu1226=)
|
|
|
|
NM_004304.5(ALK):c.3680T>C (p.Leu1227Pro)
|
rs1669534712
|
|
|
NM_004304.5(ALK):c.3681G>C (p.Leu1227=)
|
|
|
|
NM_004304.5(ALK):c.3682C>T (p.His1228Tyr)
|
|
|
|
NM_004304.5(ALK):c.3684C>A (p.His1228Gln)
|
|
|
|
NM_004304.5(ALK):c.3684C>G (p.His1228Gln)
|
rs763332339
|
|
|
NM_004304.5(ALK):c.3685G>A (p.Val1229Met)
|
rs776228721
|
|
|
NM_004304.5(ALK):c.3688G>A (p.Ala1230Thr)
|
rs375448626
|
|
|
NM_004304.5(ALK):c.368T>C (p.Leu123Pro)
|
|
|
|
NM_004304.5(ALK):c.3693G>C (p.Arg1231=)
|
|
|
|
NM_004304.5(ALK):c.3694G>A (p.Asp1232Asn)
|
|
|
|
NM_004304.5(ALK):c.3695A>G (p.Asp1232Gly)
|
rs2148159418
|
|
|
NM_004304.5(ALK):c.3698T>C (p.Ile1233Thr)
|
rs1669533889
|
|
|
NM_004304.5(ALK):c.3699T>G (p.Ile1233Met)
|
rs1573108910
|
|
|
NM_004304.5(ALK):c.369G>C (p.Leu123=)
|
|
|
|
NM_004304.5(ALK):c.3701C>T (p.Ala1234Val)
|
rs1573108894
|
|
|
NM_004304.5(ALK):c.3704G>A (p.Cys1235Tyr)
|
rs2148159392
|
|
|
NM_004304.5(ALK):c.3707G>A (p.Gly1236Asp)
|
|
|
|
NM_004304.5(ALK):c.3709_3712dup (p.Gln1238fs)
|
rs2148159371
|
|
|
NM_004304.5(ALK):c.3712_3715del (p.Gln1238fs)
|
rs750775950
|
|
|
NM_004304.5(ALK):c.3718T>G (p.Leu1240Val)
|
rs863225282
|
|
|
NM_004304.5(ALK):c.371C>G (p.Ser124Cys)
|
rs2148443409
|
|
|
NM_004304.5(ALK):c.371C>T (p.Ser124Phe)
|
|
|
|
NM_004304.5(ALK):c.3720G>A (p.Leu1240=)
|
|
|
|
NM_004304.5(ALK):c.3721G>A (p.Glu1241Lys)
|
|
|
|
NM_004304.5(ALK):c.3721G>C (p.Glu1241Gln)
|
|
|
|
NM_004304.5(ALK):c.3731A>G (p.His1244Arg)
|
rs1553392309
|
|
|
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)
|
rs281864720
|
|
|
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val)
|
rs281864720
|
|
|
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)
|
rs863225283
|
|
|
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)
|
rs863225284
|
|
|
NM_004304.5(ALK):c.3738C>T (p.Ile1246=)
|
|
|
|
NM_004304.5(ALK):c.3739del (p.His1247fs)
|
|
|
|
NM_004304.5(ALK):c.3740A>T (p.His1247Leu)
|
|
|
|
NM_004304.5(ALK):c.3741C>T (p.His1247=)
|
rs371659159
|
|
|
NM_004304.5(ALK):c.3743+10_3743+11delinsGA
|
|
|
|
NM_004304.5(ALK):c.3743+11G>A
|
|
|
|
NM_004304.5(ALK):c.3743+12T>G
|
|
|
|
NM_004304.5(ALK):c.3743+13G>T
|
rs2148159198
|
|
|
NM_004304.5(ALK):c.3743+13dup
|
|
|
|
NM_004304.5(ALK):c.3743+16T>C
|
|
|
|
NM_004304.5(ALK):c.3743+16T>G
|
|
|
|
NM_004304.5(ALK):c.3743+19G>A
|
|
|
|
NM_004304.5(ALK):c.3743+1G>A
|
|
|
|
NM_004304.5(ALK):c.3743+3G>A
|
rs1669532102
|
|
|
NM_004304.5(ALK):c.3743+3G>T
|
rs1669532102
|
|
|
NM_004304.5(ALK):c.3743+3_3743+6dup
|
rs1669531978
|
|
|
NM_004304.5(ALK):c.3743+9A>C
|
rs1573108782
|
|
|
NM_004304.5(ALK):c.3743+9A>G
|
rs1573108782
|
|
|
NM_004304.5(ALK):c.3743+9_3743+10del
|
rs1330066908
|
|
|
NM_004304.5(ALK):c.3744-12_3744-8del
|
rs779303121
|
|
|
NM_004304.5(ALK):c.3744-12_3744-8dup
|
|
|
|
NM_004304.5(ALK):c.3744-17A>G
|
|
|
|
NM_004304.5(ALK):c.3744-18C>T
|
|
|
|
NM_004304.5(ALK):c.3744-19G>T
|
rs1437758932
|
|
|
NM_004304.5(ALK):c.3744-20T>C
|
|
|
|
NM_004304.5(ALK):c.3744-2A>G
|
rs2148155402
|
|
|
NM_004304.5(ALK):c.3744-2del
|
|
|
|
NM_004304.5(ALK):c.3744-6T>A
|
rs1573102909
|
|
|
NM_004304.5(ALK):c.3744-7T>C
|
|
|
|
NM_004304.5(ALK):c.3744A>C (p.Arg1248=)
|
|
|
|
NM_004304.5(ALK):c.3745G>T (p.Asp1249Tyr)
|
rs1553391522
|
|
|
NM_004304.5(ALK):c.3747C>T (p.Asp1249=)
|
|
|
|
NM_004304.5(ALK):c.3748A>G (p.Ile1250Val)
|
|
|
|
NM_004304.5(ALK):c.3750T>A (p.Ile1250=)
|
|
|
|
NM_004304.5(ALK):c.3750T>C (p.Ile1250=)
|
|
|
|
NM_004304.5(ALK):c.3750T>G (p.Ile1250Met)
|
rs760315884
|
|
|
NM_004304.5(ALK):c.3757_3766del (p.Arg1253fs)
|
rs1669417270
|
|
|
NM_004304.5(ALK):c.375G>A (p.Arg125=)
|
|
|
|
NM_004304.5(ALK):c.375G>C (p.Arg125Ser)
|
rs1667956255
|
|
|
NM_004304.5(ALK):c.3762C>T (p.Asn1254=)
|
rs2148155344
|
|
|
NM_004304.5(ALK):c.3763T>C (p.Cys1255Arg)
|
|
|
|
NM_004304.5(ALK):c.3764G>A (p.Cys1255Tyr)
|
|
|
|
NM_004304.5(ALK):c.3764G>C (p.Cys1255Ser)
|
|
|
|
NM_004304.5(ALK):c.3764G>T (p.Cys1255Phe)
|
rs1190225184
|
|
|
NM_004304.5(ALK):c.3769_3770del (p.Leu1257fs)
|
rs1553391515
|
|
|
NM_004304.5(ALK):c.376G>C (p.Val126Leu)
|
rs753812162
|
|
|
NM_004304.5(ALK):c.3772A>G (p.Thr1258Ala)
|
rs2148155294
|
|
|
NM_004304.5(ALK):c.3775T>C (p.Cys1259Arg)
|
|
|
|
NM_004304.5(ALK):c.3776G>A (p.Cys1259Tyr)
|
rs1669417026
|
|
|
NM_004304.5(ALK):c.3776G>C (p.Cys1259Ser)
|
rs1669417026
|
|
|
NM_004304.5(ALK):c.3777T>C (p.Cys1259=)
|
rs1573102854
|
|
|
NM_004304.5(ALK):c.3778C>G (p.Pro1260Ala)
|
rs766988856
|
|
|
NM_004304.5(ALK):c.3778C>T (p.Pro1260Ser)
|
|
|
|
NM_004304.5(ALK):c.3779C>T (p.Pro1260Leu)
|
|
|
|
NM_004304.5(ALK):c.377T>C (p.Val126Ala)
|
rs764265048
|
|
|
NM_004304.5(ALK):c.3781G>A (p.Gly1261Ser)
|
rs759144859
|
|
|
NM_004304.5(ALK):c.3782G>A (p.Gly1261Asp)
|
rs1669416575
|
|
|
NM_004304.5(ALK):c.3783C>T (p.Gly1261=)
|
|
|
|
NM_004304.5(ALK):c.3784C>A (p.Pro1262Thr)
|
rs774360880
|
|
|
NM_004304.5(ALK):c.3785C>G (p.Pro1262Arg)
|
|
|
|
NM_004304.5(ALK):c.3786T>G (p.Pro1262=)
|
|
|
|
NM_004304.5(ALK):c.3787G>A (p.Gly1263Arg)
|
|
|
|
NM_004304.5(ALK):c.3788G>T (p.Gly1263Val)
|
rs1174034094
|
|
|
NM_004304.5(ALK):c.378G>T (p.Val126=)
|
|
|
|
NM_004304.5(ALK):c.3791G>A (p.Arg1264Lys)
|
|
|
|
NM_004304.5(ALK):c.3791G>T (p.Arg1264Ile)
|
|
|
|
NM_004304.5(ALK):c.3792A>C (p.Arg1264Ser)
|
rs2148155204
|
|
|
NM_004304.5(ALK):c.3793G>C (p.Val1265Leu)
|
|
|
|
NM_004304.5(ALK):c.3794T>C (p.Val1265Ala)
|
rs1669415878
|
|
|
NM_004304.5(ALK):c.3795G>A (p.Val1265=)
|
|
|
|
NM_004304.5(ALK):c.3798C>A (p.Ala1266=)
|
rs1553391502
|
|
|
NM_004304.5(ALK):c.379C>G (p.Leu127Val)
|
|
|
|
NM_004304.5(ALK):c.37C>T (p.Leu13=)
|
rs749730757
|
|
|
NM_004304.5(ALK):c.3801G>C (p.Lys1267Asn)
|
rs1558614450
|
|
|
NM_004304.5(ALK):c.3802A>T (p.Ile1268Phe)
|
rs1669415629
|
|
|
NM_004304.5(ALK):c.3806del (p.Gly1269fs)
|
rs2148155141
|
|
|
NM_004304.5(ALK):c.3807A>G (p.Gly1269=)
|
|
|
|
NM_004304.5(ALK):c.3813C>A (p.Phe1271Leu)
|
|
|
|
NM_004304.5(ALK):c.3816G>A (p.Gly1272=)
|
rs748365353
|
|
|
NM_004304.5(ALK):c.3817del (p.Met1273fs)
|
rs1669414764
|
|
|
NM_004304.5(ALK):c.3819G>A (p.Met1273Ile)
|
rs2148155078
|
|
|
NM_004304.5(ALK):c.381G>C (p.Leu127=)
|
|
|
|
NM_004304.5(ALK):c.3822C>T (p.Ala1274=)
|
rs1573102740
|
|
|
NM_004304.5(ALK):c.3823C>T (p.Arg1275Ter)
|
rs543620241
|
|
|
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)
|
rs113994087
|
|
|
NM_004304.5(ALK):c.3825A>C (p.Arg1275=)
|
|
|
|
NM_004304.5(ALK):c.3828C>T (p.Asp1276=)
|
rs1553391471
|
|
|
NM_004304.5(ALK):c.3829A>G (p.Ile1277Val)
|
rs1573102719
|
|
|
NM_004304.5(ALK):c.3830T>C (p.Ile1277Thr)
|
|
|
|
NM_004304.5(ALK):c.3832dup (p.Tyr1278fs)
|
|
|
|
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)
|
rs863225285
|
|
|
NM_004304.5(ALK):c.3833A>G (p.Tyr1278Cys)
|
|
|
|
NM_004304.5(ALK):c.3835A>C (p.Arg1279=)
|
rs1573102711
|
|
|
NM_004304.5(ALK):c.3836+10G>A
|
|
|
|
NM_004304.5(ALK):c.3836+10G>C
|
rs2148154982
|
|
|
NM_004304.5(ALK):c.3836+16C>A
|
rs2148154954
|
|
|
NM_004304.5(ALK):c.3836+1G>A
|
|
|
|
NM_004304.5(ALK):c.3836+5G>A
|
rs1669413814
|
|
|
NM_004304.5(ALK):c.3836+6T>G
|
rs1669413751
|
|
|
NM_004304.5(ALK):c.3836+8A>G
|
|
|
|
NM_004304.5(ALK):c.3836G>A (p.Arg1279Lys)
|
rs1300517321
|
|
|
NM_004304.5(ALK):c.3837-11C>G
|
|
|
|
NM_004304.5(ALK):c.3837-13T>C
|
|
|
|
NM_004304.5(ALK):c.3837-14del
|
|
|
|
NM_004304.5(ALK):c.3837-16C>T
|
|
|
|
NM_004304.5(ALK):c.3837-17C>T
|
|
|
|
NM_004304.5(ALK):c.3837-19T>C
|
|
|
|
NM_004304.5(ALK):c.3837-20T>G
|
rs2148152332
|
|
|
NM_004304.5(ALK):c.3837-6C>T
|
rs2148152290
|
|
|
NM_004304.5(ALK):c.3837-8C>T
|
rs2148152298
|
|
|
NM_004304.5(ALK):c.3837-8dup
|
rs2148152286
|
|
|
NM_004304.5(ALK):c.3839C>A (p.Ala1280Glu)
|
|
|
|
NM_004304.5(ALK):c.383A>C (p.Lys128Thr)
|
|
|
|
NM_004304.5(ALK):c.3840G>A (p.Ala1280=)
|
rs765226629
|
|
|
NM_004304.5(ALK):c.3850A>C (p.Arg1284=)
|
rs2148152215
|
|
|
NM_004304.5(ALK):c.3854A>T (p.Lys1285Met)
|
|
|
|
NM_004304.5(ALK):c.3855G>T (p.Lys1285Asn)
|
|
|
|
NM_004304.5(ALK):c.3856G>A (p.Gly1286Arg)
|
|
|
|
NM_004304.5(ALK):c.3859G>A (p.Gly1287Ser)
|
rs1669335550
|
|
|
NM_004304.5(ALK):c.385G>A (p.Gly129Ser)
|
rs1553380334
|
|
|
NM_004304.5(ALK):c.3860G>A (p.Gly1287Asp)
|
rs2148152174
|
|
|
NM_004304.5(ALK):c.3861C>T (p.Gly1287=)
|
|
|
|
NM_004304.5(ALK):c.3862T>G (p.Cys1288Gly)
|
|
|
|
NM_004304.5(ALK):c.3863G>A (p.Cys1288Tyr)
|
|
|
|
NM_004304.5(ALK):c.3866C>T (p.Ala1289Val)
|
rs1173246434
|
|
|
NM_004304.5(ALK):c.3868A>G (p.Met1290Val)
|
|
|
|
NM_004304.5(ALK):c.3869T>C (p.Met1290Thr)
|
|
|
|
NM_004304.5(ALK):c.386G>A (p.Gly129Asp)
|
rs760041708
|
|
|
NM_004304.5(ALK):c.386G>C (p.Gly129Ala)
|
rs760041708
|
|
|
NM_004304.5(ALK):c.3870G>A (p.Met1290Ile)
|
rs2148152138
|
|
|
NM_004304.5(ALK):c.3874C>G (p.Pro1292Ala)
|
|
|
|
NM_004304.5(ALK):c.3875C>T (p.Pro1292Leu)
|
rs2148152117
|
|
|
NM_004304.5(ALK):c.3881A>C (p.Lys1294Thr)
|
|
|
|
NM_004304.5(ALK):c.3886A>G (p.Met1296Val)
|
|
|
|
NM_004304.5(ALK):c.3887T>C (p.Met1296Thr)
|
|
|
|
NM_004304.5(ALK):c.3888G>A (p.Met1296Ile)
|
rs1553390763
|
|
|
NM_004304.5(ALK):c.388G>A (p.Gly130Ser)
|
|
|
|
NM_004304.5(ALK):c.3890C>T (p.Pro1297Leu)
|
rs1669334369
|
|
|
NM_004304.5(ALK):c.3891C>G (p.Pro1297=)
|
|
|
|
NM_004304.5(ALK):c.3896A>G (p.Glu1299Gly)
|
|
|
|
NM_004304.5(ALK):c.3897G>A (p.Glu1299=)
|
|
|
|
NM_004304.5(ALK):c.3897G>C (p.Glu1299Asp)
|
|
|
|
NM_004304.5(ALK):c.389G>T (p.Gly130Val)
|
rs1553380330
|
|
|
NM_004304.5(ALK):c.3901T>C (p.Phe1301Leu)
|
rs2148152031
|
|
|
NM_004304.5(ALK):c.3902del (p.Phe1301fs)
|
rs1669334076
|
|
|
NM_004304.5(ALK):c.3903C>T (p.Phe1301=)
|
rs2148152025
|
|
|
NM_004304.5(ALK):c.3905T>C (p.Met1302Thr)
|
|
|
|
NM_004304.5(ALK):c.3906G>A (p.Met1302Ile)
|
|
|
|
NM_004304.5(ALK):c.3911G>A (p.Gly1304Glu)
|
|
|
|
NM_004304.5(ALK):c.3913A>C (p.Ile1305Leu)
|
|
|
|
NM_004304.5(ALK):c.3914T>C (p.Ile1305Thr)
|
|
|
|
NM_004304.5(ALK):c.3916T>C (p.Phe1306Leu)
|
|
|
|
NM_004304.5(ALK):c.3918C>T (p.Phe1306=)
|
rs2148151984
|
|
|
NM_004304.5(ALK):c.3919A>G (p.Thr1307Ala)
|
rs1669333746
|
|
|
NM_004304.5(ALK):c.3920C>G (p.Thr1307Ser)
|
|
|
|
NM_004304.5(ALK):c.3923C>T (p.Ser1308Phe)
|
|
|
|
NM_004304.5(ALK):c.3924T>C (p.Ser1308=)
|
rs2148151967
|
|
|
NM_004304.5(ALK):c.3925A>G (p.Lys1309Glu)
|
|
|
|
NM_004304.5(ALK):c.3926A>T (p.Lys1309Ile)
|
|
|
|
NM_004304.5(ALK):c.3928A>G (p.Thr1310Ala)
|
rs1553390742
|
|
|
NM_004304.5(ALK):c.3929C>T (p.Thr1310Ile)
|
rs1060500226
|
|
|
NM_004304.5(ALK):c.392C>G (p.Ser131Cys)
|
rs1667955289
|
|
|
NM_004304.5(ALK):c.3933C>T (p.Asp1311=)
|
rs1669333390
|
|
|
NM_004304.5(ALK):c.3937T>C (p.Trp1313Arg)
|
rs1669333264
|
|
|
NM_004304.5(ALK):c.3938+12A>G
|
rs757915888
|
|
|
NM_004304.5(ALK):c.3938+17C>T
|
|
|
|
NM_004304.5(ALK):c.3938+19T>C
|
|
|
|
NM_004304.5(ALK):c.3938+1G>A
|
rs1553390736
|
|
|
NM_004304.5(ALK):c.3938+1G>C
|
rs1553390736
|
|
|
NM_004304.5(ALK):c.3938+1G>T
|
|
|
|
NM_004304.5(ALK):c.3938+20C>T
|
|
|
|
NM_004304.5(ALK):c.3938+2T>C
|
|
|
|
NM_004304.5(ALK):c.3938+3A>G
|
rs1669333067
|
|
|
NM_004304.5(ALK):c.3938+5G>A
|
|
|
|
NM_004304.5(ALK):c.3938+5dup
|
rs1573098880
|
|
|
NM_004304.5(ALK):c.3938+6T>A
|
|
|
|
NM_004304.5(ALK):c.3938+6T>C
|
|
|
|
NM_004304.5(ALK):c.3938+7C>T
|
rs1553390731
|
|
|
NM_004304.5(ALK):c.3938+7_3938+8dup
|
rs752257152
|
|
|
NM_004304.5(ALK):c.3938+8A>G
|
rs1060503877
|
|
|
NM_004304.5(ALK):c.3938G>A (p.Trp1313Ter)
|
rs1573098889
|
|
|
NM_004304.5(ALK):c.3939-10C>G
|
rs2148143702
|
|
|
NM_004304.5(ALK):c.3939-15C>T
|
|
|
|
NM_004304.5(ALK):c.3939-18C>T
|
rs1213805336
|
|
|
NM_004304.5(ALK):c.3939-19T>C
|
|
|
|
NM_004304.5(ALK):c.3939-4C>T
|
|
|
|
NM_004304.5(ALK):c.3939-5C>T
|
rs1573084845
|
|
|
NM_004304.5(ALK):c.3939-7T>A
|
|
|
|
NM_004304.5(ALK):c.3939-7T>C
|
|
|
|
NM_004304.5(ALK):c.3939-8A>C
|
rs3738869
|
|
|
NM_004304.5(ALK):c.3939G>T (p.Trp1313Cys)
|
rs1060500218
|
|
|
NM_004304.5(ALK):c.393C>G (p.Ser131=)
|
rs765026986
|
|
|
NM_004304.5(ALK):c.393C>T (p.Ser131=)
|
rs765026986
|
|
|
NM_004304.5(ALK):c.3942C>G (p.Ser1314=)
|
rs2148143670
|
|
|
NM_004304.5(ALK):c.3944T>C (p.Phe1315Ser)
|
|
|
|
NM_004304.5(ALK):c.3946G>T (p.Gly1316Ter)
|
|
|
|
NM_004304.5(ALK):c.3947G>A (p.Gly1316Glu)
|
rs1285677926
|
|
|
NM_004304.5(ALK):c.3948A>G (p.Gly1316=)
|
rs2148143639
|
|
|
NM_004304.5(ALK):c.3949G>A (p.Val1317Met)
|
rs770242459
|
|
|
NM_004304.5(ALK):c.394G>A (p.Val132Met)
|
rs1262491330
|
|
|
NM_004304.5(ALK):c.394G>T (p.Val132Leu)
|
rs1262491330
|
|
|
NM_004304.5(ALK):c.3953T>C (p.Leu1318Pro)
|
|
|
|
NM_004304.5(ALK):c.3957A>G (p.Leu1319=)
|
|
|
|
NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter)
|
rs2148143597
|
|
|
NM_004304.5(ALK):c.395_408del (p.Val132fs)
|
|
|
|
NM_004304.5(ALK):c.3963A>C (p.Glu1321Asp)
|
|
|
|
NM_004304.5(ALK):c.3965T>A (p.Ile1322Asn)
|
|
|
|
NM_004304.5(ALK):c.3966C>A (p.Ile1322=)
|
rs2148143567
|
|
|
NM_004304.5(ALK):c.3966C>G (p.Ile1322Met)
|
rs2148143567
|
|
|
NM_004304.5(ALK):c.396G>A (p.Val132=)
|
rs761545303
|
|
|
NM_004304.5(ALK):c.3971C>G (p.Ser1324Cys)
|
rs758127441
|
|
|
NM_004304.5(ALK):c.3972T>A (p.Ser1324=)
|
rs2148143547
|
|
|
NM_004304.5(ALK):c.3975T>C (p.Leu1325=)
|
|
|
|
NM_004304.5(ALK):c.397C>A (p.Arg133Ser)
|
|
|
|
NM_004304.5(ALK):c.3981T>G (p.Tyr1327Ter)
|
rs1669057406
|
|
|
NM_004304.5(ALK):c.3983T>C (p.Met1328Thr)
|
rs2148143507
|
|
|
NM_004304.5(ALK):c.3984G>A (p.Met1328Ile)
|
rs540427775
|
|
|
NM_004304.5(ALK):c.3985C>T (p.Pro1329Ser)
|
|
|
|
NM_004304.5(ALK):c.3986C>T (p.Pro1329Leu)
|
rs2148143494
|
|
|
NM_004304.5(ALK):c.3987A>G (p.Pro1329=)
|
|
|
|
NM_004304.5(ALK):c.3988T>C (p.Tyr1330His)
|
rs1669057104
|
|
|
NM_004304.5(ALK):c.398G>A (p.Arg133His)
|
rs768229646
|
|
|
NM_004304.5(ALK):c.398G>T (p.Arg133Leu)
|
rs768229646
|
|
|
NM_004304.5(ALK):c.398_399delinsAA (p.Arg133Gln)
|
|
|
|
NM_004304.5(ALK):c.3990C>A (p.Tyr1330Ter)
|
rs2148143481
|
|
|
NM_004304.5(ALK):c.3992C>T (p.Pro1331Leu)
|
rs370364694
|
|
|
NM_004304.5(ALK):c.4000A>T (p.Ser1334Cys)
|
rs1307066116
|
|
|
NM_004304.5(ALK):c.4001G>A (p.Ser1334Asn)
|
rs1209406542
|
|
|
NM_004304.5(ALK):c.4001G>C (p.Ser1334Thr)
|
|
|
|
NM_004304.5(ALK):c.4002C>G (p.Ser1334Arg)
|
rs1669056558
|
|
|
NM_004304.5(ALK):c.4006C>T (p.Gln1336Ter)
|
|
|
|
NM_004304.5(ALK):c.4007A>G (p.Gln1336Arg)
|
rs1669056352
|
|
|
NM_004304.5(ALK):c.400A>C (p.Lys134Gln)
|
|
|
|
NM_004304.5(ALK):c.400A>G (p.Lys134Glu)
|
|
|
|
NM_004304.5(ALK):c.4011A>G (p.Glu1337=)
|
rs2148143423
|
|
|
NM_004304.5(ALK):c.4012G>A (p.Val1338Ile)
|
|
|
|
NM_004304.5(ALK):c.4012G>T (p.Val1338Phe)
|
rs1573084680
|
|
|
NM_004304.5(ALK):c.4015C>T (p.Leu1339=)
|
|
|
|
NM_004304.5(ALK):c.4017G>A (p.Leu1339=)
|
rs1573084654
|
|
|
NM_004304.5(ALK):c.4019A>G (p.Glu1340Gly)
|
rs1469977891
|
|
|
NM_004304.5(ALK):c.4020G>A (p.Glu1340=)
|
rs2148143395
|
|
|
NM_004304.5(ALK):c.4023T>C (p.Phe1341=)
|
|
|
|
NM_004304.5(ALK):c.4025T>A (p.Val1342Asp)
|
|
|
|
NM_004304.5(ALK):c.4026C>T (p.Val1342=)
|
rs2148143373
|
|
|
NM_004304.5(ALK):c.4029C>G (p.Thr1343=)
|
rs2148143357
|
|
|
NM_004304.5(ALK):c.402G>A (p.Lys134=)
|
|
|
|
NM_004304.5(ALK):c.4033G>A (p.Gly1345Arg)
|
rs2148143330
|
|
|
NM_004304.5(ALK):c.4038C>T (p.Gly1346=)
|
rs1669055383
|
|
|
NM_004304.5(ALK):c.4039C>T (p.Arg1347Trp)
|
rs865887581
|
|
|
NM_004304.5(ALK):c.4041del (p.Met1348fs)
|
|
|
|
NM_004304.5(ALK):c.4045G>A (p.Asp1349Asn)
|
rs368744524
|
|
|
NM_004304.5(ALK):c.4049C>T (p.Pro1350Leu)
|
|
|
|
NM_004304.5(ALK):c.404_418del (p.Leu135_Lys139del)
|
|
|
|
NM_004304.5(ALK):c.4051C>G (p.Pro1351Ala)
|
rs1669054438
|
|
|
NM_004304.5(ALK):c.4052C>A (p.Pro1351His)
|
rs1669054292
|
|
|
NM_004304.5(ALK):c.4056G>T (p.Lys1352Asn)
|
|
|
|
NM_004304.5(ALK):c.4058A>G (p.Asn1353Ser)
|
rs2148143237
|
|
|
NM_004304.5(ALK):c.4059C>G (p.Asn1353Lys)
|
|
|
|
NM_004304.5(ALK):c.4059C>T (p.Asn1353=)
|
|
|
|
NM_004304.5(ALK):c.4060T>C (p.Cys1354Arg)
|
rs1669054082
|
|
|
NM_004304.5(ALK):c.4064C>G (p.Pro1355Arg)
|
|
|
|
NM_004304.5(ALK):c.4064C>T (p.Pro1355Leu)
|
rs1573084525
|
|
|
NM_004304.5(ALK):c.4065T>C (p.Pro1355=)
|
|
|
|
NM_004304.5(ALK):c.4069C>G (p.Pro1357Ala)
|
rs1573084515
|
|
|
NM_004304.5(ALK):c.406C>A (p.Arg136=)
|
rs1386626390
|
|
|
NM_004304.5(ALK):c.406C>T (p.Arg136Trp)
|
rs1386626390
|
|
|
NM_004304.5(ALK):c.4070C>A (p.Pro1357His)
|
|
|
|
NM_004304.5(ALK):c.4070C>T (p.Pro1357Leu)
|
|
|
|
NM_004304.5(ALK):c.4073+13T>C
|
|
|
|
NM_004304.5(ALK):c.4073+15G>A
|
|
|
|
NM_004304.5(ALK):c.4073+16G>T
|
rs1669052730
|
|
|
NM_004304.5(ALK):c.4073+1G>A
|
|
|
|
NM_004304.5(ALK):c.4073+20A>G
|
rs1176333736
|
|
|
NM_004304.5(ALK):c.4073+20A>T
|
|
|
|
NM_004304.5(ALK):c.4073+5G>A
|
rs1325951899
|
|
|
NM_004304.5(ALK):c.4073+8T>C
|
|
|
|
NM_004304.5(ALK):c.4073+9C>G
|
rs1047366816
|
|
|
NM_004304.5(ALK):c.4073T>C (p.Val1358Ala)
|
|
|
|
NM_004304.5(ALK):c.4074-13C>A
|
|
|
|
NM_004304.5(ALK):c.4074-13CTT[2]
|
rs2148141994
|
|
|
NM_004304.5(ALK):c.4074-15T>C
|
|
|
|
NM_004304.5(ALK):c.4074-3T>C
|
rs770544095
|
|
|
NM_004304.5(ALK):c.4074-5T>C
|
|
|
|
NM_004304.5(ALK):c.4074-7C>T
|
|
|
|
NM_004304.5(ALK):c.4074-8T>C
|
|
|
|
NM_004304.5(ALK):c.4077C>G (p.Tyr1359Ter)
|
|
|
|
NM_004304.5(ALK):c.4077C>T (p.Tyr1359=)
|
|
|
|
NM_004304.5(ALK):c.4079G>T (p.Arg1360Leu)
|
rs1215186876
|
|
|
NM_004304.5(ALK):c.4082T>C (p.Ile1361Thr)
|
rs2148141969
|
|
|
NM_004304.5(ALK):c.4083A>G (p.Ile1361Met)
|
|
|
|
NM_004304.5(ALK):c.4087A>T (p.Thr1363Ser)
|
|
|
|
NM_004304.5(ALK):c.4088C>T (p.Thr1363Ile)
|
|
|
|
NM_004304.5(ALK):c.4089T>C (p.Thr1363=)
|
rs2148141958
|
|
|
NM_004304.5(ALK):c.408G>C (p.Arg136=)
|
rs1667954474
|
|
|
NM_004304.5(ALK):c.408del (p.Arg137fs)
|
rs2148443342
|
|
|
NM_004304.5(ALK):c.4092G>C (p.Gln1364His)
|
|
|
|
NM_004304.5(ALK):c.4097G>A (p.Trp1366Ter)
|
|
|
|
NM_004304.5(ALK):c.4098G>T (p.Trp1366Cys)
|
|
|
|
NM_004304.5(ALK):c.4099C>A (p.Gln1367Lys)
|
rs1669035172
|
|
|
NM_004304.5(ALK):c.409C>G (p.Arg137Gly)
|
rs757382067
|
|
|
NM_004304.5(ALK):c.409C>T (p.Arg137Cys)
|
rs757382067
|
|
|
NM_004304.5(ALK):c.40C>T (p.Leu14Phe)
|
|
|
|
NM_004304.5(ALK):c.4100_4106del (p.Gln1367fs)
|
rs1370805516
|
|
|
NM_004304.5(ALK):c.4101A>G (p.Gln1367=)
|
rs2148141916
|
|
|
NM_004304.5(ALK):c.4102C>T (p.His1368Tyr)
|
|
|
|
NM_004304.5(ALK):c.4104T>C (p.His1368=)
|
rs2148141904
|
|
|
NM_004304.5(ALK):c.4106A>G (p.Gln1369Arg)
|
rs2148141895
|
|
|
NM_004304.5(ALK):c.4108C>T (p.Pro1370Ser)
|
|
|
|
NM_004304.5(ALK):c.4109C>G (p.Pro1370Arg)
|
rs748027591
|
|
|
NM_004304.5(ALK):c.4109C>T (p.Pro1370Leu)
|
rs748027591
|
|
|
NM_004304.5(ALK):c.410G>A (p.Arg137His)
|
rs2148443334
|
|
|
NM_004304.5(ALK):c.4111G>A (p.Glu1371Lys)
|
|
|
|
NM_004304.5(ALK):c.4113A>C (p.Glu1371Asp)
|
rs1287738986
|
|
|
NM_004304.5(ALK):c.4114G>T (p.Asp1372Tyr)
|
rs535864522
|
|
|
NM_004304.5(ALK):c.4116C>T (p.Asp1372=)
|
rs751325148
|
|
|
NM_004304.5(ALK):c.4117A>G (p.Arg1373Gly)
|
rs1553387992
|
|
|
NM_004304.5(ALK):c.4118G>A (p.Arg1373Lys)
|
rs1558606110
|
|
|
NM_004304.5(ALK):c.4118G>T (p.Arg1373Met)
|
rs1558606110
|
|
|
NM_004304.5(ALK):c.4119G>T (p.Arg1373Ser)
|
|
|
|
NM_004304.5(ALK):c.411T>G (p.Arg137=)
|
|
|
|
NM_004304.5(ALK):c.4122C>T (p.Pro1374=)
|
rs758759672
|
|
|
NM_004304.5(ALK):c.4125C>T (p.Asn1375=)
|
|
|
|
NM_004304.5(ALK):c.4127T>A (p.Phe1376Tyr)
|
rs17694720
|
|
|
NM_004304.5(ALK):c.4129G>A (p.Ala1377Thr)
|
rs2148141798
|
|
|
NM_004304.5(ALK):c.412G>A (p.Ala138Thr)
|
rs2148443328
|
|
|
NM_004304.5(ALK):c.412G>C (p.Ala138Pro)
|
|
|
|
NM_004304.5(ALK):c.4132A>G (p.Ile1378Val)
|
rs1669033638
|
|
|
NM_004304.5(ALK):c.413C>G (p.Ala138Gly)
|
|
|
|
NM_004304.5(ALK):c.4140G>C (p.Leu1380Phe)
|
|
|
|
NM_004304.5(ALK):c.4143G>A (p.Glu1381=)
|
|
|
|
NM_004304.5(ALK):c.4146G>A (p.Arg1382=)
|
rs1553387973
|
|
|
NM_004304.5(ALK):c.4146G>C (p.Arg1382Ser)
|
|
|
|
NM_004304.5(ALK):c.4149T>C (p.Ile1383=)
|
|
|
|
NM_004304.5(ALK):c.4151A>C (p.Glu1384Ala)
|
|
|
|
NM_004304.5(ALK):c.4151A>G (p.Glu1384Gly)
|
rs1669032859
|
|
|
NM_004304.5(ALK):c.4151A>T (p.Glu1384Val)
|
rs1669032859
|
|
|
NM_004304.5(ALK):c.4153T>C (p.Tyr1385His)
|
|
|
|
NM_004304.5(ALK):c.4157G>C (p.Cys1386Ser)
|
|
|
|
NM_004304.5(ALK):c.4158C>T (p.Cys1386=)
|
|
|
|
NM_004304.5(ALK):c.415A>C (p.Lys139Gln)
|
|
|
|
NM_004304.5(ALK):c.4160C>G (p.Thr1387Ser)
|
|
|
|
NM_004304.5(ALK):c.4160C>T (p.Thr1387Ile)
|
|
|
|
NM_004304.5(ALK):c.4161C>A (p.Thr1387=)
|
|
|
|
NM_004304.5(ALK):c.4164+10T>C
|
rs1669032265
|
|
|
NM_004304.5(ALK):c.4164+11T>G
|
|
|
|
NM_004304.5(ALK):c.4164+12T>C
|
|
|
|
NM_004304.5(ALK):c.4164+15C>T
|
|
|
|
NM_004304.5(ALK):c.4164+17C>G
|
|
|
|
NM_004304.5(ALK):c.4164+18T>G
|
rs2148141656
|
|
|
NM_004304.5(ALK):c.4164+3A>G
|
|
|
|
NM_004304.5(ALK):c.4164+4A>T
|
|
|
|
NM_004304.5(ALK):c.4164+5A>C
|
|
|
|
NM_004304.5(ALK):c.4164+6A>G
|
|
|
|
NM_004304.5(ALK):c.4164+7C>T
|
rs1669032379
|
|
|
NM_004304.5(ALK):c.4164+8A>G
|
rs2148141670
|
|
|
NM_004304.5(ALK):c.4164+9T>C
|
rs1347445556
|
|
|
NM_004304.5(ALK):c.4164+9T>G
|
|
|
|
NM_004304.5(ALK):c.4164G>A (p.Gln1388=)
|
rs200902932
|
|
|
NM_004304.5(ALK):c.4164G>C (p.Gln1388His)
|
rs200902932
|
|
|
NM_004304.5(ALK):c.4165-16del
|
rs774264912
|
|
|
NM_004304.5(ALK):c.4165-17A>G
|
|
|
|
NM_004304.5(ALK):c.4165-1G>A
|
|
|
|
NM_004304.5(ALK):c.4165-2A>G
|
rs2148139200
|
|
|
NM_004304.5(ALK):c.4165-5G>A
|
rs1668958083
|
|
|
NM_004304.5(ALK):c.4165-5G>C
|
|
|
|
NM_004304.5(ALK):c.4165-6_4165-5delinsTA
|
|
|
|
NM_004304.5(ALK):c.4165G>C (p.Asp1389His)
|
rs2148139191
|
|
|
NM_004304.5(ALK):c.4165G>T (p.Asp1389Tyr)
|
rs2148139191
|
|
|
NM_004304.5(ALK):c.4167C>T (p.Asp1389=)
|
|
|
|
NM_004304.5(ALK):c.4168C>G (p.Pro1390Ala)
|
rs1668958001
|
|
|
NM_004304.5(ALK):c.4169C>T (p.Pro1390Leu)
|
|
|
|
NM_004304.5(ALK):c.4170G>A (p.Pro1390=)
|
rs753080753
|
|
|
NM_004304.5(ALK):c.4170G>C (p.Pro1390=)
|
rs753080753
|
|
|
NM_004304.5(ALK):c.4171del (p.Asp1391fs)
|
|
|
|
NM_004304.5(ALK):c.4172A>C (p.Asp1391Ala)
|
rs2148139166
|
|
|
NM_004304.5(ALK):c.4174G>A (p.Val1392Ile)
|
rs1668957592
|
|
|
NM_004304.5(ALK):c.4180A>C (p.Asn1394His)
|
|
|
|
NM_004304.5(ALK):c.4181A>T (p.Asn1394Ile)
|
rs1668957374
|
|
|
NM_004304.5(ALK):c.4184C>T (p.Thr1395Ile)
|
rs1060500220
|
|
|
NM_004304.5(ALK):c.4185C>G (p.Thr1395=)
|
rs571470900
|
|
|
NM_004304.5(ALK):c.4186G>T (p.Ala1396Ser)
|
|
|
|
NM_004304.5(ALK):c.4190T>C (p.Leu1397Ser)
|
rs878854656
|
|
|
NM_004304.5(ALK):c.4192C>A (p.Pro1398Thr)
|
|
|
|
NM_004304.5(ALK):c.4193C>G (p.Pro1398Arg)
|
|
|
|
NM_004304.5(ALK):c.4194G>C (p.Pro1398=)
|
rs201653228
|
|
|
NM_004304.5(ALK):c.4194G>T (p.Pro1398=)
|
rs201653228
|
|
|
NM_004304.5(ALK):c.4197A>C (p.Ile1399=)
|
|
|
|
NM_004304.5(ALK):c.4197A>G (p.Ile1399Met)
|
|
|
|
NM_004304.5(ALK):c.4198G>C (p.Glu1400Gln)
|
rs1573079264
|
|
|
NM_004304.5(ALK):c.4199A>C (p.Glu1400Ala)
|
rs978004615
|
|
|
NM_004304.5(ALK):c.4199A>G (p.Glu1400Gly)
|
|
|
|
NM_004304.5(ALK):c.419A>G (p.Gln140Arg)
|
rs2148443304
|
|
|
NM_004304.5(ALK):c.4200A>T (p.Glu1400Asp)
|
rs143647372
|
|
|
NM_004304.5(ALK):c.4201T>G (p.Tyr1401Asp)
|
rs549395816
|
|
|
NM_004304.5(ALK):c.4210C>T (p.Leu1404Phe)
|
rs757615099
|
|
|
NM_004304.5(ALK):c.4215G>A (p.Val1405=)
|
rs2148139024
|
|
|
NM_004304.5(ALK):c.4216G>A (p.Glu1406Lys)
|
rs1668955167
|
|
|
NM_004304.5(ALK):c.4216GAAGAG[1] (p.Glu1408_Glu1409del)
|
rs1558604159
|
|
|
NM_004304.5(ALK):c.4217A>G (p.Glu1406Gly)
|
|
|
|
NM_004304.5(ALK):c.4219G>A (p.Glu1407Lys)
|
rs1334825922
|
|
|
NM_004304.5(ALK):c.4221G>A (p.Glu1407=)
|
rs552187705
|
|
|
NM_004304.5(ALK):c.4221G>C (p.Glu1407Asp)
|
rs552187705
|
|
|
NM_004304.5(ALK):c.4223A>G (p.Glu1408Gly)
|
rs2148139005
|
|
|
NM_004304.5(ALK):c.4224A>C (p.Glu1408Asp)
|
|
|
|
NM_004304.5(ALK):c.4224A>G (p.Glu1408=)
|
rs2148139002
|
|
|
NM_004304.5(ALK):c.4226A>T (p.Glu1409Val)
|
rs1286165795
|
|
|
NM_004304.5(ALK):c.4226_4231del (p.Glu1409_Lys1410del)
|
rs1460984349
|
|
|
NM_004304.5(ALK):c.4227G>A (p.Glu1409=)
|
|
|
|
NM_004304.5(ALK):c.4227G>C (p.Glu1409Asp)
|
|
|
|
NM_004304.5(ALK):c.4227G>T (p.Glu1409Asp)
|
rs139086136
|
|
|
NM_004304.5(ALK):c.4232T>C (p.Val1411Ala)
|
rs878854657
|
|
|
NM_004304.5(ALK):c.4232T>G (p.Val1411Gly)
|
rs878854657
|
|
|
NM_004304.5(ALK):c.4233G>C (p.Val1411=)
|
|
|
|
NM_004304.5(ALK):c.4235C>G (p.Pro1412Arg)
|
|
|
|
NM_004304.5(ALK):c.4238dup (p.Arg1414fs)
|
rs1553387176
|
|
|
NM_004304.5(ALK):c.4240A>C (p.Arg1414=)
|
|
|
|
NM_004304.5(ALK):c.4241G>T (p.Arg1414Met)
|
rs77762612
|
|
|
NM_004304.5(ALK):c.4247A>C (p.Lys1416Thr)
|
rs1558604110
|
|
|
NM_004304.5(ALK):c.4247A>G (p.Lys1416Arg)
|
rs1558604110
|
|
|
NM_004304.5(ALK):c.4247A>T (p.Lys1416Met)
|
rs1558604110
|
|
|
NM_004304.5(ALK):c.4248G>A (p.Lys1416=)
|
rs55782189
|
|
|
NM_004304.5(ALK):c.4248G>C (p.Lys1416Asn)
|
rs55782189
|
|
|
NM_004304.5(ALK):c.4249G>A (p.Asp1417Asn)
|
|
|
|
NM_004304.5(ALK):c.4249G>C (p.Asp1417His)
|
rs1251673674
|
|
|
NM_004304.5(ALK):c.424G>A (p.Val142Met)
|
|
|
|
NM_004304.5(ALK):c.4253C>G (p.Pro1418Arg)
|
rs1668952882
|
|
|
NM_004304.5(ALK):c.4255G>C (p.Glu1419Gln)
|
rs56181542
|
|
|
NM_004304.5(ALK):c.4257G>C (p.Glu1419Asp)
|
rs888028409
|
|
|
NM_004304.5(ALK):c.4258G>A (p.Gly1420Arg)
|
|
|
|
NM_004304.5(ALK):c.4259G>A (p.Gly1420Glu)
|
rs200470125
|
|
|
NM_004304.5(ALK):c.425_430dup (p.Val142_Leu143dup)
|
rs2148443279
|
|
|
NM_004304.5(ALK):c.4260G>A (p.Gly1420=)
|
|
|
|
NM_004304.5(ALK):c.4260G>T (p.Gly1420=)
|
rs2148138882
|
|
|
NM_004304.5(ALK):c.4261del (p.Val1421fs)
|
|
|
|
NM_004304.5(ALK):c.4262T>C (p.Val1421Ala)
|
|
|
|
NM_004304.5(ALK):c.4262T>G (p.Val1421Gly)
|
rs1472924406
|
|
|
NM_004304.5(ALK):c.4263T>C (p.Val1421=)
|
|
|
|
NM_004304.5(ALK):c.4264C>G (p.Pro1422Ala)
|
rs1558604075
|
|
|
NM_004304.5(ALK):c.4268C>T (p.Pro1423Leu)
|
|
|
|
NM_004304.5(ALK):c.426G>A (p.Val142=)
|
|
|
|
NM_004304.5(ALK):c.426G>T (p.Val142=)
|
rs903662070
|
|
|
NM_004304.5(ALK):c.4270C>G (p.Leu1424Val)
|
rs1573079038
|
|
|
NM_004304.5(ALK):c.4272C>A (p.Leu1424=)
|
|
|
|
NM_004304.5(ALK):c.4272C>T (p.Leu1424=)
|
|
|
|
NM_004304.5(ALK):c.4274T>C (p.Leu1425Pro)
|
|
|
|
NM_004304.5(ALK):c.4276G>A (p.Val1426Ile)
|
rs1558604058
|
|
|
NM_004304.5(ALK):c.4276G>T (p.Val1426Phe)
|
rs1558604058
|
|
|
NM_004304.5(ALK):c.4277T>A (p.Val1426Asp)
|
rs2148138831
|
|
|
NM_004304.5(ALK):c.4278C>G (p.Val1426=)
|
|
|
|
NM_004304.5(ALK):c.4278C>T (p.Val1426=)
|
rs1235124703
|
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NM_004304.5(ALK):c.4279T>C (p.Ser1427Pro)
|
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NM_004304.5(ALK):c.4279T>G (p.Ser1427Ala)
|
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NM_004304.5(ALK):c.427C>A (p.Leu143Met)
|
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NM_004304.5(ALK):c.427dup (p.Leu143fs)
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NM_004304.5(ALK):c.4285C>A (p.Gln1429Lys)
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|
NM_004304.5(ALK):c.4287G>A (p.Gln1429=)
|
rs1573079004
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NM_004304.5(ALK):c.4288G>T (p.Ala1430Ser)
|
|
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|
NM_004304.5(ALK):c.4292A>C (p.Lys1431Thr)
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NM_004304.5(ALK):c.4293A>C (p.Lys1431Asn)
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NM_004304.5(ALK):c.4294C>G (p.Arg1432Gly)
|
rs1668950917
|
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NM_004304.5(ALK):c.4294C>T (p.Arg1432Trp)
|
rs1668950917
|
|
|
NM_004304.5(ALK):c.4295G>A (p.Arg1432Gln)
|
rs1374838786
|
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NM_004304.5(ALK):c.4295G>C (p.Arg1432Pro)
|
rs1374838786
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NM_004304.5(ALK):c.4297G>C (p.Glu1433Gln)
|
rs1668950485
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NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)
|
rs138827116
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NM_004304.5(ALK):c.4297del (p.Glu1433fs)
|
rs770888701
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NM_004304.5(ALK):c.4298A>G (p.Glu1433Gly)
|
rs1668950412
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NM_004304.5(ALK):c.4300G>A (p.Glu1434Lys)
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NM_004304.5(ALK):c.4301A>G (p.Glu1434Gly)
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NM_004304.5(ALK):c.4303G>C (p.Glu1435Gln)
|
rs769694344
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NM_004304.5(ALK):c.4306C>A (p.Arg1436Ser)
|
rs201129468
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NM_004304.5(ALK):c.4306C>T (p.Arg1436Cys)
|
rs201129468
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NM_004304.5(ALK):c.4309A>T (p.Ser1437Cys)
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NM_004304.5(ALK):c.430G>A (p.Glu144Lys)
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NM_004304.5(ALK):c.4311C>A (p.Ser1437Arg)
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rs1173440684
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NM_004304.5(ALK):c.4311C>G (p.Ser1437Arg)
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NM_004304.5(ALK):c.4312C>A (p.Pro1438Thr)
|
rs1558604000
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NM_004304.5(ALK):c.4312C>T (p.Pro1438Ser)
|
rs1558604000
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NM_004304.5(ALK):c.4317T>G (p.Ala1439=)
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NM_004304.5(ALK):c.4318G>A (p.Ala1440Thr)
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rs1307483937
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NM_004304.5(ALK):c.4318G>T (p.Ala1440Ser)
|
rs1307483937
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NM_004304.5(ALK):c.4319C>T (p.Ala1440Val)
|
rs2148138722
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NM_004304.5(ALK):c.4321C>T (p.Pro1441Ser)
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NM_004304.5(ALK):c.4322C>T (p.Pro1441Leu)
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rs1668949114
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NM_004304.5(ALK):c.4323A>T (p.Pro1441=)
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NM_004304.5(ALK):c.4323ACC[1] (p.Pro1443del)
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rs2148138704
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NM_004304.5(ALK):c.4327C>T (p.Pro1443Ser)
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NM_004304.5(ALK):c.4331T>C (p.Leu1444Pro)
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NM_004304.5(ALK):c.4331_4343del (p.Leu1444fs)
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NM_004304.5(ALK):c.4332G>A (p.Leu1444=)
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NM_004304.5(ALK):c.4335T>A (p.Pro1445=)
|
rs1573078845
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NM_004304.5(ALK):c.4337C>A (p.Thr1446Asn)
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NM_004304.5(ALK):c.4337C>T (p.Thr1446Ile)
|
rs1668948533
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NM_004304.5(ALK):c.4338C>A (p.Thr1446=)
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NM_004304.5(ALK):c.4339A>G (p.Thr1447Ala)
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NM_004304.5(ALK):c.433C>G (p.Leu145Val)
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NM_004304.5(ALK):c.4340C>A (p.Thr1447Asn)
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NM_004304.5(ALK):c.4341C>G (p.Thr1447=)
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NM_004304.5(ALK):c.4341C>T (p.Thr1447=)
|
rs1256417576
|
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NM_004304.5(ALK):c.4341dup (p.Ser1448fs)
|
rs2148138649
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NM_004304.5(ALK):c.4342T>C (p.Ser1448Pro)
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NM_004304.5(ALK):c.4343C>T (p.Ser1448Phe)
|
rs1553387094
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NM_004304.5(ALK):c.4347T>C (p.Ser1449=)
|
rs1558603940
|
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NM_004304.5(ALK):c.4350C>G (p.Gly1450=)
|
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NM_004304.5(ALK):c.4354G>A (p.Ala1452Thr)
|
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NM_004304.5(ALK):c.4355C>A (p.Ala1452Asp)
|
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NM_004304.5(ALK):c.4357G>T (p.Ala1453Ser)
|
rs752317227
|
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NM_004304.5(ALK):c.4358C>G (p.Ala1453Gly)
|
|
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|
NM_004304.5(ALK):c.4359A>C (p.Ala1453=)
|
rs1553387086
|
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NM_004304.5(ALK):c.4361A>G (p.Lys1454Arg)
|
|
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|
NM_004304.5(ALK):c.4362G>A (p.Lys1454=)
|
rs1040411489
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NM_004304.5(ALK):c.4365A>T (p.Lys1455Asn)
|
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|
NM_004304.5(ALK):c.4367C>T (p.Pro1456Leu)
|
rs944804641
|
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NM_004304.5(ALK):c.4369A>C (p.Thr1457Pro)
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NM_004304.5(ALK):c.436G>A (p.Gly146Ser)
|
rs2148443264
|
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NM_004304.5(ALK):c.4373C>A (p.Ala1458Asp)
|
rs774448761
|
|
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NM_004304.5(ALK):c.4373C>T (p.Ala1458Val)
|
rs774448761
|
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NM_004304.5(ALK):c.4376C>T (p.Ala1459Val)
|
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|
NM_004304.5(ALK):c.4376_4381delinsTAGAGG (p.Ala1459_Ile1461delinsValGluVal)
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NM_004304.5(ALK):c.4378G>A (p.Glu1460Lys)
|
rs2148138533
|
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NM_004304.5(ALK):c.437G>A (p.Gly146Asp)
|
|
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|
NM_004304.5(ALK):c.4380G>C (p.Glu1460Asp)
|
rs1558603894
|
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NM_004304.5(ALK):c.4380_4381delinsAG (p.Ile1461Val)
|
rs1668946149
|
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NM_004304.5(ALK):c.4381A>C (p.Ile1461Leu)
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NM_004304.5(ALK):c.4381A>T (p.Ile1461Phe)
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NM_004304.5(ALK):c.4383C>T (p.Ile1461=)
|
rs368580204
|
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NM_004304.5(ALK):c.4387G>A (p.Val1463Ile)
|
|
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NM_004304.5(ALK):c.4387G>T (p.Val1463Phe)
|
rs2148138487
|
|
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NM_004304.5(ALK):c.438C>A (p.Gly146=)
|
|
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NM_004304.5(ALK):c.438C>T (p.Gly146=)
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NM_004304.5(ALK):c.4390C>T (p.Arg1464Ter)
|
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NM_004304.5(ALK):c.4390_4391insCA (p.Arg1464fs)
|
|
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NM_004304.5(ALK):c.4391G>A (p.Arg1464Gln)
|
rs1060500213
|
|
|
NM_004304.5(ALK):c.4393G>C (p.Val1465Leu)
|
rs769128867
|
|
|
NM_004304.5(ALK):c.4396C>T (p.Pro1466Ser)
|
rs1668945318
|
|
|
NM_004304.5(ALK):c.4397C>T (p.Pro1466Leu)
|
rs1368483124
|
|
|
NM_004304.5(ALK):c.4399A>G (p.Arg1467Gly)
|
|
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|
NM_004304.5(ALK):c.43T>A (p.Ser15Thr)
|
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NM_004304.5(ALK):c.4401A>G (p.Arg1467=)
|
rs2148138435
|
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NM_004304.5(ALK):c.4402G>A (p.Gly1468Arg)
|
|
|
|
NM_004304.5(ALK):c.4404G>A (p.Gly1468=)
|
rs1256422825
|
|
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NM_004304.5(ALK):c.4406C>G (p.Pro1469Arg)
|
rs758625575
|
|
|
NM_004304.5(ALK):c.440AGG[3] (p.Glu148dup)
|
rs1667953492
|
|
|
NM_004304.5(ALK):c.4411G>T (p.Val1471Leu)
|
|
|
|
NM_004304.5(ALK):c.4413G>A (p.Val1471=)
|
rs1179096583
|
|
|
NM_004304.5(ALK):c.4419G>A (p.Gly1473=)
|
rs752227509
|
|
|
NM_004304.5(ALK):c.4419G>T (p.Gly1473=)
|
|
|
|
NM_004304.5(ALK):c.441G>A (p.Glu147=)
|
|
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|
NM_004304.5(ALK):c.4420G>A (p.Gly1474Arg)
|
|
|
|
NM_004304.5(ALK):c.4420G>C (p.Gly1474Arg)
|
rs2148138381
|
|
|
NM_004304.5(ALK):c.4421G>C (p.Gly1474Ala)
|
rs1293939080
|
|
|
NM_004304.5(ALK):c.4425C>A (p.His1475Gln)
|
rs139039449
|
|
|
NM_004304.5(ALK):c.4426G>A (p.Val1476Met)
|
rs1353772576
|
|
|
NM_004304.5(ALK):c.4430A>G (p.Asn1477Ser)
|
rs1668942326
|
|
|
NM_004304.5(ALK):c.4434G>A (p.Met1478Ile)
|
|
|
|
NM_004304.5(ALK):c.4436C>T (p.Ala1479Val)
|
rs1558603789
|
|
|
NM_004304.5(ALK):c.4437A>C (p.Ala1479=)
|
|
|
|
NM_004304.5(ALK):c.4438T>C (p.Phe1480Leu)
|
rs1410822315
|
|
|
NM_004304.5(ALK):c.443A>C (p.Glu148Ala)
|
rs1331266292
|
|
|
NM_004304.5(ALK):c.4441T>C (p.Ser1481Pro)
|
rs2148138322
|
|
|
NM_004304.5(ALK):c.4441T>G (p.Ser1481Ala)
|
|
|
|
NM_004304.5(ALK):c.4442C>G (p.Ser1481Cys)
|
rs1356575388
|
|
|
NM_004304.5(ALK):c.4442C>T (p.Ser1481Phe)
|
rs1356575388
|
|
|
NM_004304.5(ALK):c.4445A>G (p.Gln1482Arg)
|
rs751473124
|
|
|
NM_004304.5(ALK):c.4446G>C (p.Gln1482His)
|
|
|
|
NM_004304.5(ALK):c.4450A>G (p.Asn1484Asp)
|
|
|
|
NM_004304.5(ALK):c.4451A>C (p.Asn1484Thr)
|
rs752320442
|
|
|
NM_004304.5(ALK):c.4453C>A (p.Pro1485Thr)
|
|
|
|
NM_004304.5(ALK):c.4455T>A (p.Pro1485=)
|
|
|
|
NM_004304.5(ALK):c.4458T>C (p.Pro1486=)
|
rs1668941335
|
|
|
NM_004304.5(ALK):c.4458_4460del (p.Ser1487del)
|
|
|
|
NM_004304.5(ALK):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_004304.5(ALK):c.4461G>A (p.Ser1487=)
|
|
|
|
NM_004304.5(ALK):c.4462G>C (p.Glu1488Gln)
|
rs776861631
|
|
|
NM_004304.5(ALK):c.4464G>A (p.Glu1488=)
|
|
|
|
NM_004304.5(ALK):c.4466T>G (p.Leu1489Trp)
|
rs747098710
|
|
|
NM_004304.5(ALK):c.4468C>T (p.His1490Tyr)
|
rs2148138215
|
|
|
NM_004304.5(ALK):c.4469A>G (p.His1490Arg)
|
|
|
|
NM_004304.5(ALK):c.446C>A (p.Ala149Glu)
|
|
|
|
NM_004304.5(ALK):c.4470C>G (p.His1490Gln)
|
rs1573078434
|
|
|
NM_004304.5(ALK):c.4470C>T (p.His1490=)
|
rs1573078434
|
|
|
NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)
|
|
|
|
NM_004304.5(ALK):c.4471_4472delinsCG (p.Lys1491Arg)
|
rs1668940521
|
|
|
NM_004304.5(ALK):c.4474G>C (p.Val1492Leu)
|
rs567438064
|
|
|
NM_004304.5(ALK):c.4475T>C (p.Val1492Ala)
|
|
|
|
NM_004304.5(ALK):c.4476C>T (p.Val1492=)
|
|
|
|
NM_004304.5(ALK):c.4477C>T (p.His1493Tyr)
|
|
|
|
NM_004304.5(ALK):c.4478A>G (p.His1493Arg)
|
|
|
|
NM_004304.5(ALK):c.4478A>T (p.His1493Leu)
|
rs747759910
|
|
|
NM_004304.5(ALK):c.4479C>A (p.His1493Gln)
|
|
|
|
NM_004304.5(ALK):c.4479C>T (p.His1493=)
|
rs2148138174
|
|
|
NM_004304.5(ALK):c.447G>A (p.Ala149=)
|
|
|
|
NM_004304.5(ALK):c.447G>C (p.Ala149=)
|
|
|
|
NM_004304.5(ALK):c.4483T>A (p.Ser1495Thr)
|
rs1441987948
|
|
|
NM_004304.5(ALK):c.4483T>C (p.Ser1495Pro)
|
|
|
|
NM_004304.5(ALK):c.4484C>T (p.Ser1495Phe)
|
|
|
|
NM_004304.5(ALK):c.4486A>G (p.Arg1496Gly)
|
rs1378185030
|
|
|
NM_004304.5(ALK):c.4487G>A (p.Arg1496Lys)
|
rs2148138148
|
|
|
NM_004304.5(ALK):c.4489A>C (p.Asn1497His)
|
|
|
|
NM_004304.5(ALK):c.448A>C (p.Ile150Leu)
|
rs1203267790
|
|
|
NM_004304.5(ALK):c.4490A>G (p.Asn1497Ser)
|
|
|
|
NM_004304.5(ALK):c.4493A>G (p.Lys1498Arg)
|
|
|
|
NM_004304.5(ALK):c.4493A>T (p.Lys1498Met)
|
|
|
|
NM_004304.5(ALK):c.4494G>A (p.Lys1498=)
|
|
|
|
NM_004304.5(ALK):c.4499C>T (p.Thr1500Ile)
|
rs751170666
|
|
|
NM_004304.5(ALK):c.44C>T (p.Ser15Phe)
|
rs770134645
|
|
|
NM_004304.5(ALK):c.4500C>T (p.Thr1500=)
|
rs2148138096
|
|
|
NM_004304.5(ALK):c.4502G>A (p.Ser1501Asn)
|
|
|
|
NM_004304.5(ALK):c.4503C>T (p.Ser1501=)
|
|
|
|
NM_004304.5(ALK):c.4512C>A (p.Asn1504Lys)
|
rs527638667
|
|
|
NM_004304.5(ALK):c.4516A>G (p.Thr1506Ala)
|
rs1553386991
|
|
|
NM_004304.5(ALK):c.4516A>T (p.Thr1506Ser)
|
rs1553386991
|
|
|
NM_004304.5(ALK):c.4517C>T (p.Thr1506Met)
|
|
|
|
NM_004304.5(ALK):c.4518G>A (p.Thr1506=)
|
rs761628666
|
|
|
NM_004304.5(ALK):c.4529G>A (p.Trp1510Ter)
|
rs928177802
|
|
|
NM_004304.5(ALK):c.4530G>A (p.Trp1510Ter)
|
rs772430445
|
|
|
NM_004304.5(ALK):c.4531T>A (p.Phe1511Ile)
|
rs1573078272
|
|
|
NM_004304.5(ALK):c.4533T>C (p.Phe1511=)
|
rs1573078266
|
|
|
NM_004304.5(ALK):c.4535C>G (p.Thr1512Arg)
|
rs75681494
|
|
|
NM_004304.5(ALK):c.4535C>T (p.Thr1512Ile)
|
|
|
|
NM_004304.5(ALK):c.4536A>G (p.Thr1512=)
|
rs878854658
|
|
|
NM_004304.5(ALK):c.4537G>C (p.Glu1513Gln)
|
rs374733353
|
|
|
NM_004304.5(ALK):c.4538A>G (p.Glu1513Gly)
|
|
|
|
NM_004304.5(ALK):c.4539G>A (p.Glu1513=)
|
rs148138515
|
|
|
NM_004304.5(ALK):c.4540A>G (p.Lys1514Glu)
|
|
|
|
NM_004304.5(ALK):c.4542A>C (p.Lys1514Asn)
|
rs2148137975
|
|
|
NM_004304.5(ALK):c.4543C>A (p.Pro1515Thr)
|
|
|
|
NM_004304.5(ALK):c.4546A>C (p.Thr1516Pro)
|
|
|
|
NM_004304.5(ALK):c.4547C>T (p.Thr1516Ile)
|
rs1668936237
|
|
|
NM_004304.5(ALK):c.4548C>T (p.Thr1516=)
|
rs2148137958
|
|
|
NM_004304.5(ALK):c.454G>C (p.Glu152Gln)
|
rs1060500233
|
|
|
NM_004304.5(ALK):c.4553A>G (p.Lys1518Arg)
|
|
|
|
NM_004304.5(ALK):c.4553del (p.Lys1518fs)
|
rs2148137946
|
|
|
NM_004304.5(ALK):c.4554_4555delinsTT (p.Lys1518_Asn1519delinsAsnTyr)
|
|
|
|
NM_004304.5(ALK):c.4554del (p.Asn1519fs)
|
rs2148137938
|
|
|
NM_004304.5(ALK):c.4557T>C (p.Asn1519=)
|
rs1668936067
|
|
|
NM_004304.5(ALK):c.4558A>C (p.Asn1520His)
|
|
|
|
NM_004304.5(ALK):c.455A>G (p.Glu152Gly)
|
rs1553380301
|
|
|
NM_004304.5(ALK):c.455A>T (p.Glu152Val)
|
|
|
|
NM_004304.5(ALK):c.4560T>A (p.Asn1520Lys)
|
|
|
|
NM_004304.5(ALK):c.4560_4577dup (p.Lys1525_Glu1526insAspProIleAlaLysLys)
|
rs780241185
|
|
|
NM_004304.5(ALK):c.4561C>A (p.Pro1521Thr)
|
|
|
|
NM_004304.5(ALK):c.4565del (p.Ile1522fs)
|
rs1668935806
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NM_004304.5(ALK):c.4566A>G (p.Ile1522Met)
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rs902642850
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NM_004304.5(ALK):c.4567G>C (p.Ala1523Pro)
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rs1553386968
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NM_004304.5(ALK):c.4568C>T (p.Ala1523Val)
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NM_004304.5(ALK):c.456G>C (p.Glu152Asp)
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rs1553380299
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NM_004304.5(ALK):c.4570AAG[1] (p.Lys1525del)
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rs755556501
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NM_004304.5(ALK):c.4571A>G (p.Lys1524Arg)
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rs1668935395
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NM_004304.5(ALK):c.4574A>G (p.Lys1525Arg)
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NM_004304.5(ALK):c.4575G>A (p.Lys1525=)
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NM_004304.5(ALK):c.4576G>A (p.Glu1526Lys)
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rs1558603565
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NM_004304.5(ALK):c.4578G>A (p.Glu1526=)
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rs754743349
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NM_004304.5(ALK):c.4578G>C (p.Glu1526Asp)
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NM_004304.5(ALK):c.4579C>T (p.Pro1527Ser)
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rs1668934497
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NM_004304.5(ALK):c.457G>A (p.Gly153Ser)
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rs1485515006
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NM_004304.5(ALK):c.457G>T (p.Gly153Cys)
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NM_004304.5(ALK):c.4581A>G (p.Pro1527=)
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NM_004304.5(ALK):c.4583A>G (p.His1528Arg)
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NM_004304.5(ALK):c.4584C>A (p.His1528Gln)
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rs746470148
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NM_004304.5(ALK):c.4584C>G (p.His1528Gln)
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rs746470148
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NM_004304.5(ALK):c.4585G>C (p.Asp1529His)
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NM_004304.5(ALK):c.4586_4587delinsTG (p.Asp1529Val)
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rs1668934153
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NM_004304.5(ALK):c.4589G>C (p.Arg1530Thr)
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NM_004304.5(ALK):c.4589G>T (p.Arg1530Met)
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rs141242925
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NM_004304.5(ALK):c.4590G>A (p.Arg1530=)
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rs1668933679
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NM_004304.5(ALK):c.4590G>T (p.Arg1530Ser)
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rs1668933679
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NM_004304.5(ALK):c.4592G>A (p.Gly1531Asp)
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rs1668933433
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NM_004304.5(ALK):c.4592G>T (p.Gly1531Val)
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rs1668933433
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NM_004304.5(ALK):c.4594A>T (p.Asn1532Tyr)
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rs563126725
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NM_004304.5(ALK):c.4596C>A (p.Asn1532Lys)
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NM_004304.5(ALK):c.4597C>T (p.Leu1533=)
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NM_004304.5(ALK):c.4598T>C (p.Leu1533Pro)
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NM_004304.5(ALK):c.4598T>G (p.Leu1533Arg)
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rs764298799
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NM_004304.5(ALK):c.4600G>A (p.Gly1534Arg)
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rs1453682751
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NM_004304.5(ALK):c.4600G>C (p.Gly1534Arg)
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rs1453682751
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NM_004304.5(ALK):c.4601G>C (p.Gly1534Ala)
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rs139185626
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NM_004304.5(ALK):c.4602G>A (p.Gly1534=)
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rs1187162555
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NM_004304.5(ALK):c.4604T>A (p.Leu1535Gln)
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NM_004304.5(ALK):c.4605G>T (p.Leu1535=)
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rs1459765837
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NM_004304.5(ALK):c.4605_4606insAAGGAGCCACACGAGAGGGGTAACCTGGGGCTG (p.Leu1535_Glu1536insLysGluProHisGluArgGlyAsnLeuGlyLeu)
|
rs2148137777
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NM_004304.5(ALK):c.4606G>A (p.Glu1536Lys)
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rs752701859
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NM_004304.5(ALK):c.4606G>C (p.Glu1536Gln)
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rs752701859
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NM_004304.5(ALK):c.4607A>G (p.Glu1536Gly)
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NM_004304.5(ALK):c.4608G>T (p.Glu1536Asp)
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rs147241767
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NM_004304.5(ALK):c.4609G>C (p.Gly1537Arg)
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rs958335893
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NM_004304.5(ALK):c.4610G>A (p.Gly1537Glu)
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rs1046265972
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NM_004304.5(ALK):c.4610G>C (p.Gly1537Ala)
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rs1046265972
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NM_004304.5(ALK):c.4611A>T (p.Gly1537=)
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rs2148137752
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NM_004304.5(ALK):c.4613G>T (p.Ser1538Ile)
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rs1553386937
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NM_004304.5(ALK):c.4614C>T (p.Ser1538=)
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rs2148137743
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NM_004304.5(ALK):c.4615T>C (p.Cys1539Arg)
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NM_004304.5(ALK):c.4620T>C (p.Thr1540=)
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NM_004304.5(ALK):c.4622T>A (p.Val1541Asp)
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NM_004304.5(ALK):c.4623C>T (p.Val1541=)
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rs774860532
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NM_004304.5(ALK):c.4625C>G (p.Pro1542Arg)
|
rs878854659
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NM_004304.5(ALK):c.4625C>T (p.Pro1542Leu)
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rs878854659
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NM_004304.5(ALK):c.4625del (p.Pro1542fs)
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rs1174832921
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NM_004304.5(ALK):c.4626A>C (p.Pro1542=)
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rs1668931146
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NM_004304.5(ALK):c.4627C>A (p.Pro1543Thr)
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rs771622065
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NM_004304.5(ALK):c.4629T>G (p.Pro1543=)
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NM_004304.5(ALK):c.462C>T (p.Cys154=)
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NM_004304.5(ALK):c.4630A>C (p.Asn1544His)
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rs1668930964
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NM_004304.5(ALK):c.4632C>T (p.Asn1544=)
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rs763403897
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NM_004304.5(ALK):c.4633G>T (p.Val1545Phe)
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rs1296992304
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NM_004304.5(ALK):c.4634T>C (p.Val1545Ala)
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rs1553386918
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NM_004304.5(ALK):c.4636G>A (p.Ala1546Thr)
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rs1668930591
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NM_004304.5(ALK):c.4638A>G (p.Ala1546=)
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NM_004304.5(ALK):c.463G>A (p.Val155Ile)
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rs751920643
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NM_004304.5(ALK):c.463G>C (p.Val155Leu)
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rs751920643
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NM_004304.5(ALK):c.4642G>A (p.Gly1548Arg)
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rs1215807713
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NM_004304.5(ALK):c.4643G>A (p.Gly1548Glu)
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rs78868998
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NM_004304.5(ALK):c.4644G>A (p.Gly1548=)
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rs2148137650
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NM_004304.5(ALK):c.4644G>C (p.Gly1548=)
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rs2148137650
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NM_004304.5(ALK):c.4645A>C (p.Arg1549=)
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rs773780435
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NM_004304.5(ALK):c.4645A>G (p.Arg1549Gly)
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NM_004304.5(ALK):c.4648C>G (p.Leu1550Val)
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rs886055928
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NM_004304.5(ALK):c.4649T>C (p.Leu1550Pro)
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rs1668930030
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NM_004304.5(ALK):c.464T>G (p.Val155Gly)
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rs1206463887
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NM_004304.5(ALK):c.4653G>T (p.Pro1551=)
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rs1376929970
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NM_004304.5(ALK):c.4654G>A (p.Gly1552Arg)
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NM_004304.5(ALK):c.4654G>C (p.Gly1552Arg)
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rs771570579
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NM_004304.5(ALK):c.4654G>T (p.Gly1552Trp)
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rs771570579
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NM_004304.5(ALK):c.4655G>A (p.Gly1552Glu)
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NM_004304.5(ALK):c.4655G>C (p.Gly1552Ala)
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rs1668929634
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NM_004304.5(ALK):c.4655G>T (p.Gly1552Val)
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rs1668929634
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NM_004304.5(ALK):c.4656G>T (p.Gly1552=)
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rs952457982
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NM_004304.5(ALK):c.4657G>A (p.Ala1553Thr)
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rs745390287
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NM_004304.5(ALK):c.4657G>C (p.Ala1553Pro)
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rs745390287
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NM_004304.5(ALK):c.4657G>T (p.Ala1553Ser)
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rs745390287
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NM_004304.5(ALK):c.465C>G (p.Val155=)
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NM_004304.5(ALK):c.465C>T (p.Val155=)
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NM_004304.5(ALK):c.4661C>T (p.Ser1554Leu)
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NM_004304.5(ALK):c.4664T>C (p.Leu1555Pro)
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NM_004304.5(ALK):c.4665G>A (p.Leu1555=)
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rs542234332
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NM_004304.5(ALK):c.4666C>G (p.Leu1556Val)
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NM_004304.5(ALK):c.4666C>T (p.Leu1556Phe)
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rs1214400523
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NM_004304.5(ALK):c.466G>A (p.Gly156Arg)
|
rs761318889
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NM_004304.5(ALK):c.466G>T (p.Gly156Trp)
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NM_004304.5(ALK):c.4670T>C (p.Leu1557Pro)
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NM_004304.5(ALK):c.4672G>A (p.Glu1558Lys)
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NM_004304.5(ALK):c.4673A>G (p.Glu1558Gly)
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rs1668928402
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NM_004304.5(ALK):c.4673_4674delinsTC (p.Glu1558Val)
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rs2148137555
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NM_004304.5(ALK):c.4674G>A (p.Glu1558=)
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NM_004304.5(ALK):c.4675C>T (p.Pro1559Ser)
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NM_004304.5(ALK):c.4677C>G (p.Pro1559=)
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NM_004304.5(ALK):c.4677del (p.Ser1560fs)
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rs2148137540
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NM_004304.5(ALK):c.4678T>C (p.Ser1560Pro)
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NM_004304.5(ALK):c.4678T>G (p.Ser1560Ala)
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NM_004304.5(ALK):c.4679C>G (p.Ser1560Cys)
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NM_004304.5(ALK):c.4682C>T (p.Ser1561Leu)
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rs1209157216
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NM_004304.5(ALK):c.4684C>T (p.Leu1562=)
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NM_004304.5(ALK):c.4685T>C (p.Leu1562Pro)
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NM_004304.5(ALK):c.4687A>G (p.Thr1563Ala)
|
rs1668927499
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NM_004304.5(ALK):c.4689T>C (p.Thr1563=)
|
rs571671456
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NM_004304.5(ALK):c.468G>C (p.Gly156=)
|
rs776407160
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NM_004304.5(ALK):c.4690G>A (p.Ala1564Thr)
|
rs1019065457
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NM_004304.5(ALK):c.4696A>G (p.Met1566Val)
|
rs1558603299
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NM_004304.5(ALK):c.4697T>C (p.Met1566Thr)
|
rs1356952469
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NM_004304.5(ALK):c.4698G>C (p.Met1566Ile)
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NM_004304.5(ALK):c.4699A>G (p.Lys1567Glu)
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NM_004304.5(ALK):c.469C>A (p.Pro157Thr)
|
rs74774946
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NM_004304.5(ALK):c.46A>C (p.Thr16Pro)
|
rs1572504096
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NM_004304.5(ALK):c.46A>G (p.Thr16Ala)
|
rs1572504096
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NM_004304.5(ALK):c.4701G>A (p.Lys1567=)
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NM_004304.5(ALK):c.4705G>A (p.Val1569Ile)
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NM_004304.5(ALK):c.4706T>C (p.Val1569Ala)
|
rs1668926110
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NM_004304.5(ALK):c.4708C>G (p.Pro1570Ala)
|
rs2148137416
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NM_004304.5(ALK):c.4708C>T (p.Pro1570Ser)
|
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NM_004304.5(ALK):c.4709C>T (p.Pro1570Leu)
|
rs1668925964
|
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NM_004304.5(ALK):c.4710T>A (p.Pro1570=)
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NM_004304.5(ALK):c.4710T>G (p.Pro1570=)
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NM_004304.5(ALK):c.4713G>A (p.Leu1571=)
|
rs2148137397
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NM_004304.5(ALK):c.4713G>C (p.Leu1571=)
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NM_004304.5(ALK):c.4713G>T (p.Leu1571=)
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NM_004304.5(ALK):c.4715T>G (p.Phe1572Cys)
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NM_004304.5(ALK):c.4717A>G (p.Arg1573Gly)
|
rs1460362626
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NM_004304.5(ALK):c.4719G>A (p.Arg1573=)
|
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NM_004304.5(ALK):c.4720C>A (p.Leu1574Ile)
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NM_004304.5(ALK):c.4720C>T (p.Leu1574=)
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NM_004304.5(ALK):c.4722A>C (p.Leu1574=)
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NM_004304.5(ALK):c.4723C>G (p.Arg1575Gly)
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NM_004304.5(ALK):c.4724G>C (p.Arg1575Pro)
|
rs745349865
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NM_004304.5(ALK):c.4726C>G (p.His1576Asp)
|
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NM_004304.5(ALK):c.4727A>G (p.His1576Arg)
|
rs2148137340
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NM_004304.5(ALK):c.4728C>T (p.His1576=)
|
rs1420285868
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NM_004304.5(ALK):c.4729T>A (p.Phe1577Ile)
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NM_004304.5(ALK):c.4729T>C (p.Phe1577Leu)
|
rs200829376
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NM_004304.5(ALK):c.472C>T (p.Pro158Ser)
|
rs536284304
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NM_004304.5(ALK):c.4730T>C (p.Phe1577Ser)
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NM_004304.5(ALK):c.4733C>T (p.Pro1578Leu)
|
rs1251627719
|
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NM_004304.5(ALK):c.4734T>A (p.Pro1578=)
|
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NM_004304.5(ALK):c.4734T>C (p.Pro1578=)
|
rs749162642
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NM_004304.5(ALK):c.4734T>G (p.Pro1578=)
|
rs749162642
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NM_004304.5(ALK):c.4735T>G (p.Cys1579Gly)
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NM_004304.5(ALK):c.4737T>A (p.Cys1579Ter)
|
rs553333897
|
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NM_004304.5(ALK):c.4738G>C (p.Gly1580Arg)
|
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NM_004304.5(ALK):c.4739G>T (p.Gly1580Val)
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NM_004304.5(ALK):c.4740G>A (p.Gly1580=)
|
rs2148137275
|
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NM_004304.5(ALK):c.4741A>T (p.Asn1581Tyr)
|
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NM_004304.5(ALK):c.4742A>C (p.Asn1581Thr)
|
rs1668924453
|
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NM_004304.5(ALK):c.4743T>A (p.Asn1581Lys)
|
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NM_004304.5(ALK):c.4743T>C (p.Asn1581=)
|
rs747946035
|
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NM_004304.5(ALK):c.4745T>C (p.Val1582Ala)
|
rs2148137261
|
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NM_004304.5(ALK):c.4747A>G (p.Asn1583Asp)
|
rs781448587
|
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NM_004304.5(ALK):c.4748A>T (p.Asn1583Ile)
|
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NM_004304.5(ALK):c.474C>T (p.Pro158=)
|
rs1298233277
|
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NM_004304.5(ALK):c.474del (p.Glu160fs)
|
rs1244823020
|
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NM_004304.5(ALK):c.474dup (p.Gly159fs)
|
rs1244823020
|
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NM_004304.5(ALK):c.4751A>C (p.Tyr1584Ser)
|
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NM_004304.5(ALK):c.4752C>G (p.Tyr1584Ter)
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NM_004304.5(ALK):c.4753G>A (p.Gly1585Ser)
|
rs1573077410
|
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NM_004304.5(ALK):c.4756T>C (p.Tyr1586His)
|
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NM_004304.5(ALK):c.4757A>G (p.Tyr1586Cys)
|
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NM_004304.5(ALK):c.4760A>C (p.Gln1587Pro)
|
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NM_004304.5(ALK):c.4760A>T (p.Gln1587Leu)
|
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NM_004304.5(ALK):c.4763A>C (p.Gln1588Pro)
|
rs2148137204
|
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NM_004304.5(ALK):c.4765C>T (p.Gln1589Ter)
|
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NM_004304.5(ALK):c.4767G>T (p.Gln1589His)
|
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NM_004304.5(ALK):c.4768G>C (p.Gly1590Arg)
|
rs190639819
|
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NM_004304.5(ALK):c.4769G>A (p.Gly1590Asp)
|
rs1457558507
|
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|
NM_004304.5(ALK):c.4769G>T (p.Gly1590Val)
|
rs1457558507
|
|
|
NM_004304.5(ALK):c.4770C>A (p.Gly1590=)
|
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NM_004304.5(ALK):c.4770C>G (p.Gly1590=)
|
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|
NM_004304.5(ALK):c.4771T>C (p.Leu1591=)
|
rs1008766442
|
|
|
NM_004304.5(ALK):c.4773G>A (p.Leu1591=)
|
rs1668922602
|
|
|
NM_004304.5(ALK):c.4773G>T (p.Leu1591Phe)
|
|
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|
NM_004304.5(ALK):c.4775C>T (p.Pro1592Leu)
|
rs1668922506
|
|
|
NM_004304.5(ALK):c.4776C>T (p.Pro1592=)
|
rs2148137153
|
|
|
NM_004304.5(ALK):c.4779A>G (p.Leu1593=)
|
rs2148137147
|
|
|
NM_004304.5(ALK):c.4779_4789del (p.Leu1593fs)
|
|
|
|
NM_004304.5(ALK):c.477G>A (p.Gly159=)
|
rs770771709
|
|
|
NM_004304.5(ALK):c.477G>C (p.Gly159=)
|
rs770771709
|
|
|
NM_004304.5(ALK):c.4780G>A (p.Glu1594Lys)
|
rs767191161
|
|
|
NM_004304.5(ALK):c.4783G>T (p.Ala1595Ser)
|
rs1668921952
|
|
|
NM_004304.5(ALK):c.4784C>A (p.Ala1595Asp)
|
|
|
|
NM_004304.5(ALK):c.4784C>T (p.Ala1595Val)
|
|
|
|
NM_004304.5(ALK):c.4785C>A (p.Ala1595=)
|
rs76150405
|
|
|
NM_004304.5(ALK):c.4786G>A (p.Ala1596Thr)
|
rs748822593
|
|
|
NM_004304.5(ALK):c.4786G>T (p.Ala1596Ser)
|
|
|
|
NM_004304.5(ALK):c.4789A>G (p.Thr1597Ala)
|
|
|
|
NM_004304.5(ALK):c.478G>T (p.Glu160Ter)
|
|
|
|
NM_004304.5(ALK):c.4796C>T (p.Pro1599Leu)
|
|
|
|
NM_004304.5(ALK):c.4797T>C (p.Pro1599=)
|
rs1573077216
|
|
|
NM_004304.5(ALK):c.4797T>G (p.Pro1599=)
|
|
|
|
NM_004304.5(ALK):c.4798G>A (p.Gly1600Arg)
|
|
|
|
NM_004304.5(ALK):c.47C>G (p.Thr16Arg)
|
|
|
|
NM_004304.5(ALK):c.47C>T (p.Thr16Met)
|
|
|
|
NM_004304.5(ALK):c.4800A>G (p.Gly1600=)
|
|
|
|
NM_004304.5(ALK):c.4805G>C (p.Gly1602Ala)
|
|
|
|
NM_004304.5(ALK):c.4806T>G (p.Gly1602=)
|
|
|
|
NM_004304.5(ALK):c.4807C>T (p.His1603Tyr)
|
|
|
|
NM_004304.5(ALK):c.4808A>G (p.His1603Arg)
|
|
|
|
NM_004304.5(ALK):c.4808A>T (p.His1603Leu)
|
rs1668920233
|
|
|
NM_004304.5(ALK):c.4812C>A (p.Tyr1604Ter)
|
rs753750497
|
|
|
NM_004304.5(ALK):c.4812C>G (p.Tyr1604Ter)
|
|
|
|
NM_004304.5(ALK):c.4813G>T (p.Glu1605Ter)
|
|
|
|
NM_004304.5(ALK):c.481G>A (p.Ala161Thr)
|
|
|
|
NM_004304.5(ALK):c.481G>T (p.Ala161Ser)
|
|
|
|
NM_004304.5(ALK):c.4825C>A (p.Leu1609Met)
|
|
|
|
NM_004304.5(ALK):c.4828_4854dup (p.Lys1610_Pro1618dup)
|
rs1668918005
|
|
|
NM_004304.5(ALK):c.482C>A (p.Ala161Glu)
|
rs2148443167
|
|
|
NM_004304.5(ALK):c.482C>T (p.Ala161Val)
|
|
|
|
NM_004304.5(ALK):c.4830A>G (p.Lys1610=)
|
|
|
|
NM_004304.5(ALK):c.4832G>A (p.Ser1611Asn)
|
|
|
|
NM_004304.5(ALK):c.4832G>T (p.Ser1611Ile)
|
rs1668918898
|
|
|
NM_004304.5(ALK):c.4833_4836del (p.Ser1611fs)
|
rs1558603069
|
|
|
NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn)
|
rs78174819
|
|
|
NM_004304.5(ALK):c.4836G>T (p.Lys1612Asn)
|
|
|
|
NM_004304.5(ALK):c.4839T>C (p.Asn1613=)
|
rs1487769564
|
|
|
NM_004304.5(ALK):c.4840A>T (p.Ser1614Cys)
|
|
|
|
NM_004304.5(ALK):c.4844T>A (p.Met1615Lys)
|
|
|
|
NM_004304.5(ALK):c.4844T>C (p.Met1615Thr)
|
rs1668918393
|
|
|
NM_004304.5(ALK):c.4848C>T (p.Asn1616=)
|
rs2148136916
|
|
|
NM_004304.5(ALK):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_004304.5(ALK):c.4851G>T (p.Gln1617His)
|
|
|
|
NM_004304.5(ALK):c.4852C>T (p.Pro1618Ser)
|
rs1668918068
|
|
|
NM_004304.5(ALK):c.4854T>G (p.Pro1618=)
|
|
|
|
NM_004304.5(ALK):c.4855G>A (p.Gly1619Arg)
|
|
|
|
NM_004304.5(ALK):c.4856G>T (p.Gly1619Val)
|
|
|
|
NM_004304.5(ALK):c.4857G>A (p.Gly1619=)
|
rs2148136888
|
|
|
NM_004304.5(ALK):c.485C>T (p.Ala162Val)
|
rs1572503074
|
|
|
NM_004304.5(ALK):c.4860C>G (p.Pro1620=)
|
|
|
|
NM_004304.5(ALK):c.4860C>T (p.Pro1620=)
|
rs2148136879
|
|
|
NM_004304.5(ALK):c.4860_*12del (p.Ter1621LeuextTer?)
|
rs1456617295
|
|
|
NM_004304.5(ALK):c.4861T>C (p.Ter1621Arg)
|
rs2148136874
|
|
|
NM_004304.5(ALK):c.4861_*4del (p.Ter1621GlyextTer?)
|
|
|
|
NM_004304.5(ALK):c.487G>A (p.Val163Met)
|
rs55697431
|
|
|
NM_004304.5(ALK):c.491G>A (p.Gly164Glu)
|
|
|
|
NM_004304.5(ALK):c.492G>A (p.Gly164=)
|
rs2148443148
|
|
|
NM_004304.5(ALK):c.492G>T (p.Gly164=)
|
|
|
|
NM_004304.5(ALK):c.495G>T (p.Leu165=)
|
|
|
|
NM_004304.5(ALK):c.498C>G (p.Leu166=)
|
|
|
|
NM_004304.5(ALK):c.49G>T (p.Ala17Ser)
|
|
|
|
NM_004304.5(ALK):c.4G>A (p.Gly2Arg)
|
rs1667974338
|
|
|
NM_004304.5(ALK):c.501G>A (p.Gln167=)
|
|
|
|
NM_004304.5(ALK):c.505A>G (p.Asn169Asp)
|
rs932619554
|
|
|
NM_004304.5(ALK):c.507T>C (p.Asn169=)
|
rs780271684
|
|
|
NM_004304.5(ALK):c.508C>T (p.Leu170Phe)
|
|
|
|
NM_004304.5(ALK):c.510C>T (p.Leu170=)
|
rs886055933
|
|
|
NM_004304.5(ALK):c.512G>C (p.Ser171Thr)
|
|
|
|
NM_004304.5(ALK):c.516G>T (p.Glu172Asp)
|
rs1667950612
|
|
|
NM_004304.5(ALK):c.517C>G (p.Leu173Val)
|
rs760343255
|
|
|
NM_004304.5(ALK):c.517C>T (p.Leu173=)
|
|
|
|
NM_004304.5(ALK):c.518T>C (p.Leu173Pro)
|
|
|
|
NM_004304.5(ALK):c.523A>G (p.Ser175Gly)
|
rs767019998
|
|
|
NM_004304.5(ALK):c.527G>C (p.Trp176Ser)
|
|
|
|
NM_004304.5(ALK):c.530G>A (p.Trp177Ter)
|
|
|
|
NM_004304.5(ALK):c.531G>T (p.Trp177Cys)
|
rs2148443045
|
|
|
NM_004304.5(ALK):c.532A>G (p.Ile178Val)
|
rs1667950122
|
|
|
NM_004304.5(ALK):c.534T>C (p.Ile178=)
|
rs2148443040
|
|
|
NM_004304.5(ALK):c.534T>G (p.Ile178Met)
|
|
|
|
NM_004304.5(ALK):c.535C>T (p.Arg179Cys)
|
rs62129830
|
|
|
NM_004304.5(ALK):c.536G>A (p.Arg179His)
|
rs1316424431
|
|
|
NM_004304.5(ALK):c.536G>T (p.Arg179Leu)
|
rs1316424431
|
|
|
NM_004304.5(ALK):c.537C>G (p.Arg179=)
|
|
|
|
NM_004304.5(ALK):c.537C>T (p.Arg179=)
|
|
|
|
NM_004304.5(ALK):c.53C>A (p.Ala18Asp)
|
|
|
|
NM_004304.5(ALK):c.540A>C (p.Gln180His)
|
rs1572502948
|
|
|
NM_004304.5(ALK):c.542G>A (p.Gly181Asp)
|
|
|
|
NM_004304.5(ALK):c.543C>G (p.Gly181=)
|
|
|
|
NM_004304.5(ALK):c.543C>T (p.Gly181=)
|
rs984559507
|
|
|
NM_004304.5(ALK):c.544G>A (p.Glu182Lys)
|
|
|
|
NM_004304.5(ALK):c.544G>T (p.Glu182Ter)
|
rs1229550831
|
|
|
NM_004304.5(ALK):c.545A>G (p.Glu182Gly)
|
|
|
|
NM_004304.5(ALK):c.548G>A (p.Gly183Glu)
|
rs1060500223
|
|
|
NM_004304.5(ALK):c.550C>T (p.Arg184Ter)
|
|
|
|
NM_004304.5(ALK):c.551G>T (p.Arg184Leu)
|
rs1558549514
|
|
|
NM_004304.5(ALK):c.555G>A (p.Leu185=)
|
|
|
|
NM_004304.5(ALK):c.556A>G (p.Arg186Gly)
|
|
|
|
NM_004304.5(ALK):c.557G>A (p.Arg186Lys)
|
rs774403380
|
|
|
NM_004304.5(ALK):c.558G>C (p.Arg186Ser)
|
rs1558549504
|
|
|
NM_004304.5(ALK):c.55G>C (p.Val19Leu)
|
rs1057384991
|
|
|
NM_004304.5(ALK):c.560T>A (p.Ile187Asn)
|
rs2148442990
|
|
|
NM_004304.5(ALK):c.561C>A (p.Ile187=)
|
rs1410159912
|
|
|
NM_004304.5(ALK):c.563G>A (p.Arg188His)
|
rs770625956
|
|
|
NM_004304.5(ALK):c.563G>C (p.Arg188Pro)
|
|
|
|
NM_004304.5(ALK):c.563G>T (p.Arg188Leu)
|
|
|
|
NM_004304.5(ALK):c.564C>T (p.Arg188=)
|
rs2148442985
|
|
|
NM_004304.5(ALK):c.565C>T (p.Leu189=)
|
|
|
|
NM_004304.5(ALK):c.566T>C (p.Leu189Pro)
|
|
|
|
NM_004304.5(ALK):c.567G>A (p.Leu189=)
|
rs2148442976
|
|
|
NM_004304.5(ALK):c.567G>T (p.Leu189=)
|
|
|
|
NM_004304.5(ALK):c.569T>C (p.Met190Thr)
|
rs1572502891
|
|
|
NM_004304.5(ALK):c.570G>A (p.Met190Ile)
|
|
|
|
NM_004304.5(ALK):c.571C>T (p.Pro191Ser)
|
|
|
|
NM_004304.5(ALK):c.573C>G (p.Pro191=)
|
rs145440822
|
|
|
NM_004304.5(ALK):c.573C>T (p.Pro191=)
|
rs145440822
|
|
|
NM_004304.5(ALK):c.574G>C (p.Glu192Gln)
|
|
|
|
NM_004304.5(ALK):c.574G>T (p.Glu192Ter)
|
|
|
|
NM_004304.5(ALK):c.575A>G (p.Glu192Gly)
|
|
|
|
NM_004304.5(ALK):c.576G>C (p.Glu192Asp)
|
|
|
|
NM_004304.5(ALK):c.578A>T (p.Lys193Met)
|
|
|
|
NM_004304.5(ALK):c.579G>A (p.Lys193=)
|
rs2148442947
|
|
|
NM_004304.5(ALK):c.583G>A (p.Ala195Thr)
|
rs138296547
|
|
|
NM_004304.5(ALK):c.585G>A (p.Ala195=)
|
rs2148442931
|
|
|
NM_004304.5(ALK):c.587C>A (p.Ser196Ter)
|
|
|
|
NM_004304.5(ALK):c.588G>C (p.Ser196=)
|
rs781350285
|
|
|
NM_004304.5(ALK):c.58G>A (p.Gly20Ser)
|
|
|
|
NM_004304.5(ALK):c.590A>G (p.Glu197Gly)
|
|
|
|
NM_004304.5(ALK):c.591A>T (p.Glu197Asp)
|
|
|
|
NM_004304.5(ALK):c.592G>T (p.Val198Leu)
|
|
|
|
NM_004304.5(ALK):c.593T>C (p.Val198Ala)
|
|
|
|
NM_004304.5(ALK):c.594G>A (p.Val198=)
|
|
|
|
NM_004304.5(ALK):c.595G>A (p.Gly199Ser)
|
rs747517546
|
|
|
NM_004304.5(ALK):c.596G>A (p.Gly199Asp)
|
rs1292996434
|
|
|
NM_004304.5(ALK):c.596G>C (p.Gly199Ala)
|
|
|
|
NM_004304.5(ALK):c.599G>C (p.Arg200Thr)
|
rs978946990
|
|
|
NM_004304.5(ALK):c.59G>A (p.Gly20Asp)
|
rs1572504071
|
|
|
NM_004304.5(ALK):c.5G>C (p.Gly2Ala)
|
|
|
|
NM_004304.5(ALK):c.602_603del (p.Glu201fs)
|
|
|
|
NM_004304.5(ALK):c.603G>A (p.Glu201=)
|
rs2148442896
|
|
|
NM_004304.5(ALK):c.605G>A (p.Gly202Glu)
|
rs1060500224
|
|
|
NM_004304.5(ALK):c.607A>G (p.Arg203Gly)
|
|
|
|
NM_004304.5(ALK):c.608G>A (p.Arg203Lys)
|
|
|
|
NM_004304.5(ALK):c.609G>A (p.Arg203=)
|
rs1667946918
|
|
|
NM_004304.5(ALK):c.609G>C (p.Arg203Ser)
|
|
|
|
NM_004304.5(ALK):c.60C>T (p.Gly20=)
|
|
|
|
NM_004304.5(ALK):c.611T>C (p.Leu204Pro)
|
rs1426655261
|
|
|
NM_004304.5(ALK):c.612G>C (p.Leu204=)
|
|
|
|
NM_004304.5(ALK):c.612G>T (p.Leu204=)
|
|
|
|
NM_004304.5(ALK):c.614C>T (p.Ser205Phe)
|
rs2148442872
|
|
|
NM_004304.5(ALK):c.615C>A (p.Ser205=)
|
rs567498111
|
|
|
NM_004304.5(ALK):c.615C>T (p.Ser205=)
|
rs567498111
|
|
|
NM_004304.5(ALK):c.616G>A (p.Ala206Thr)
|
rs141093002
|
|
|
NM_004304.5(ALK):c.617C>T (p.Ala206Val)
|
rs1337143722
|
|
|
NM_004304.5(ALK):c.61T>C (p.Ser21Pro)
|
rs1275224090
|
|
|
NM_004304.5(ALK):c.620C>T (p.Ala207Val)
|
rs2148442860
|
|
|
NM_004304.5(ALK):c.625C>G (p.Arg209Gly)
|
rs1365924896
|
|
|
NM_004304.5(ALK):c.625C>T (p.Arg209Cys)
|
|
|
|
NM_004304.5(ALK):c.627C>A (p.Arg209=)
|
rs1165267868
|
|
|
NM_004304.5(ALK):c.627C>G (p.Arg209=)
|
rs1165267868
|
|
|
NM_004304.5(ALK):c.628_629delinsCT (p.Ala210Leu)
|
rs2148442846
|
|
|
NM_004304.5(ALK):c.62C>T (p.Ser21Phe)
|
|
|
|
NM_004304.5(ALK):c.632C>T (p.Ser211Phe)
|
|
|
|
NM_004304.5(ALK):c.634C>T (p.Gln212Ter)
|
|
|
|
NM_004304.5(ALK):c.636G>T (p.Gln212His)
|
|
|
|
NM_004304.5(ALK):c.637C>A (p.Pro213Thr)
|
|
|
|
NM_004304.5(ALK):c.637C>T (p.Pro213Ser)
|
|
|
|
NM_004304.5(ALK):c.643C>A (p.Leu215Ile)
|
|
|
|
NM_004304.5(ALK):c.645del (p.Leu216fs)
|
|
|
|
NM_004304.5(ALK):c.646C>G (p.Leu216Val)
|
rs1035402110
|
|
|
NM_004304.5(ALK):c.647T>A (p.Leu216His)
|
|
|
|
NM_004304.5(ALK):c.647T>G (p.Leu216Arg)
|
|
|
|
NM_004304.5(ALK):c.648C>A (p.Leu216=)
|
|
|
|
NM_004304.5(ALK):c.649T>C (p.Phe217Leu)
|
|
|
|
NM_004304.5(ALK):c.651C>T (p.Phe217=)
|
rs2148442816
|
|
|
NM_004304.5(ALK):c.654G>C (p.Gln218His)
|
|
|
|
NM_004304.5(ALK):c.655A>C (p.Ile219Leu)
|
rs886055932
|
|
|
NM_004304.5(ALK):c.656T>C (p.Ile219Thr)
|
rs2148442808
|
|
|
NM_004304.5(ALK):c.660C>T (p.Phe220=)
|
rs1667944556
|
|
|
NM_004304.5(ALK):c.661G>A (p.Gly221Arg)
|
rs199584443
|
|
|
NM_004304.5(ALK):c.662G>A (p.Gly221Glu)
|
rs1667944325
|
|
|
NM_004304.5(ALK):c.662G>C (p.Gly221Ala)
|
|
|
|
NM_004304.5(ALK):c.665C>G (p.Thr222Ser)
|
|
|
|
NM_004304.5(ALK):c.665C>T (p.Thr222Ile)
|
rs2148442788
|
|
|
NM_004304.5(ALK):c.667+11C>A
|
rs765124982
|
|
|
NM_004304.5(ALK):c.667+11C>G
|
|
|
|
NM_004304.5(ALK):c.667+12C>T
|
|
|
|
NM_004304.5(ALK):c.667+13C>G
|
rs762116831
|
|
|
NM_004304.5(ALK):c.667+13C>T
|
rs762116831
|
|
|
NM_004304.5(ALK):c.667+14G>A
|
|
|
|
NM_004304.5(ALK):c.667+14G>C
|
|
|
|
NM_004304.5(ALK):c.667+1G>A
|
|
|
|
NM_004304.5(ALK):c.667+4A>G
|
|
|
|
NM_004304.5(ALK):c.667+8G>A
|
rs2148442762
|
|
|
NM_004304.5(ALK):c.667+9C>T
|
rs773016330
|
|
|
NM_004304.5(ALK):c.668-12T>G
|
|
|
|
NM_004304.5(ALK):c.668-14A>G
|
|
|
|
NM_004304.5(ALK):c.668-17T>A
|
rs760840075
|
|
|
NM_004304.5(ALK):c.668-18C>A
|
|
|
|
NM_004304.5(ALK):c.668-18C>G
|
rs2148307448
|
|
|
NM_004304.5(ALK):c.668-20T>C
|
rs1679304541
|
|
|
NM_004304.5(ALK):c.668-3C>T
|
rs1679303988
|
|
|
NM_004304.5(ALK):c.668-5T>A
|
rs901852575
|
|
|
NM_004304.5(ALK):c.668-5T>C
|
|
|
|
NM_004304.5(ALK):c.668-6G>A
|
rs2148307433
|
|
|
NM_004304.5(ALK):c.668G>A (p.Gly223Asp)
|
rs775574527
|
|
|
NM_004304.5(ALK):c.669T>C (p.Gly223=)
|
rs1052858121
|
|
|
NM_004304.5(ALK):c.66G>A (p.Gly22=)
|
|
|
|
NM_004304.5(ALK):c.66G>C (p.Gly22=)
|
rs778418435
|
|
|
NM_004304.5(ALK):c.670C>A (p.His224Asn)
|
rs1407129567
|
|
|
NM_004304.5(ALK):c.673A>G (p.Ser225Gly)
|
rs1456830388
|
|
|
NM_004304.5(ALK):c.675C>T (p.Ser225=)
|
|
|
|
NM_004304.5(ALK):c.677C>T (p.Ser226Phe)
|
rs1679303562
|
|
|
NM_004304.5(ALK):c.678C>T (p.Ser226=)
|
rs2148307413
|
|
|
NM_004304.5(ALK):c.67A>G (p.Met23Val)
|
|
|
|
NM_004304.5(ALK):c.682G>C (p.Glu228Gln)
|
rs2148307408
|
|
|
NM_004304.5(ALK):c.683A>G (p.Glu228Gly)
|
rs2148307404
|
|
|
NM_004304.5(ALK):c.687A>G (p.Ser229=)
|
|
|
|
NM_004304.5(ALK):c.688C>T (p.Pro230Ser)
|
|
|
|
NM_004304.5(ALK):c.689C>A (p.Pro230Gln)
|
|
|
|
NM_004304.5(ALK):c.689C>T (p.Pro230Leu)
|
rs1679303194
|
|
|
NM_004304.5(ALK):c.691A>C (p.Thr231Pro)
|
rs1060500230
|
|
|
NM_004304.5(ALK):c.691A>G (p.Thr231Ala)
|
rs1060500230
|
|
|
NM_004304.5(ALK):c.695A>C (p.Asn232Thr)
|
rs774904862
|
|
|
NM_004304.5(ALK):c.695A>G (p.Asn232Ser)
|
|
|
|
NM_004304.5(ALK):c.696C>A (p.Asn232Lys)
|
|
|
|
NM_004304.5(ALK):c.697A>T (p.Met233Leu)
|
|
|
|
NM_004304.5(ALK):c.700C>A (p.Pro234Thr)
|
rs1060500209
|
|
|
NM_004304.5(ALK):c.701C>G (p.Pro234Arg)
|
|
|
|
NM_004304.5(ALK):c.701C>T (p.Pro234Leu)
|
rs948241251
|
|
|
NM_004304.5(ALK):c.701_702delinsGA (p.Pro234Arg)
|
rs1679302255
|
|
|
NM_004304.5(ALK):c.702T>A (p.Pro234=)
|
rs2246745
|
|
|
NM_004304.5(ALK):c.702T>G (p.Pro234=)
|
rs2246745
|
|
|
NM_004304.5(ALK):c.704_705insCCCTTC (p.235SP[3])
|
rs2148307359
|
|
|
NM_004304.5(ALK):c.705T>C (p.Ser235=)
|
|
|
|
NM_004304.5(ALK):c.709_711del (p.Ser237del)
|
rs1573580166
|
|
|
NM_004304.5(ALK):c.711T>C (p.Ser237=)
|
|
|
|
NM_004304.5(ALK):c.712C>T (p.Pro238Ser)
|
|
|
|
NM_004304.5(ALK):c.712_714del (p.Pro238del)
|
rs1311300230
|
|
|
NM_004304.5(ALK):c.714T>C (p.Pro238=)
|
|
|
|
NM_004304.5(ALK):c.715G>T (p.Asp239Tyr)
|
|
|
|
NM_004304.5(ALK):c.719A>T (p.Tyr240Phe)
|
|
|
|
NM_004304.5(ALK):c.71G>A (p.Gly24Glu)
|
|
|
|
NM_004304.5(ALK):c.71G>C (p.Gly24Ala)
|
|
|
|
NM_004304.5(ALK):c.722T>C (p.Phe241Ser)
|
|
|
|
NM_004304.5(ALK):c.723T>C (p.Phe241=)
|
|
|
|
NM_004304.5(ALK):c.723T>G (p.Phe241Leu)
|
|
|
|
NM_004304.5(ALK):c.724A>G (p.Thr242Ala)
|
rs2148307303
|
|
|
NM_004304.5(ALK):c.725C>T (p.Thr242Ile)
|
rs1679301106
|
|
|
NM_004304.5(ALK):c.732T>A (p.Asn244Lys)
|
|
|
|
NM_004304.5(ALK):c.732T>C (p.Asn244=)
|
rs760894224
|
|
|
NM_004304.5(ALK):c.737C>G (p.Thr246Ser)
|
|
|
|
NM_004304.5(ALK):c.739T>C (p.Trp247Arg)
|
|
|
|
NM_004304.5(ALK):c.73A>G (p.Thr25Ala)
|
|
|
|
NM_004304.5(ALK):c.740G>A (p.Trp247Ter)
|
rs1558457342
|
|
|
NM_004304.5(ALK):c.741G>A (p.Trp247Ter)
|
|
|
|
NM_004304.5(ALK):c.741G>C (p.Trp247Cys)
|
rs2148307275
|
|
|
NM_004304.5(ALK):c.742A>G (p.Ile248Val)
|
|
|
|
NM_004304.5(ALK):c.744A>G (p.Ile248Met)
|
rs1573580109
|
|
|
NM_004304.5(ALK):c.745A>G (p.Met249Val)
|
rs1679300524
|
|
|
NM_004304.5(ALK):c.746T>C (p.Met249Thr)
|
|
|
|
NM_004304.5(ALK):c.748A>G (p.Lys250Glu)
|
rs767630195
|
|
|
NM_004304.5(ALK):c.74C>A (p.Thr25Asn)
|
rs753812499
|
|
|
NM_004304.5(ALK):c.752A>G (p.Asp251Gly)
|
|
|
|
NM_004304.5(ALK):c.755C>T (p.Ser252Phe)
|
rs868525145
|
|
|
NM_004304.5(ALK):c.756C>T (p.Ser252=)
|
rs1679300243
|
|
|
NM_004304.5(ALK):c.758T>A (p.Phe253Tyr)
|
|
|
|
NM_004304.5(ALK):c.758T>C (p.Phe253Ser)
|
rs759574066
|
|
|
NM_004304.5(ALK):c.758T>G (p.Phe253Cys)
|
|
|
|
NM_004304.5(ALK):c.759C>T (p.Phe253=)
|
|
|
|
NM_004304.5(ALK):c.75C>A (p.Thr25=)
|
rs764176323
|
|
|
NM_004304.5(ALK):c.761C>G (p.Pro254Arg)
|
rs1553351744
|
|
|
NM_004304.5(ALK):c.766C>T (p.Leu256=)
|
rs1573580077
|
|
|
NM_004304.5(ALK):c.770C>G (p.Ser257Cys)
|
|
|
|
NM_004304.5(ALK):c.770C>T (p.Ser257Phe)
|
rs1679299604
|
|
|
NM_004304.5(ALK):c.772C>T (p.His258Tyr)
|
rs1679299436
|
|
|
NM_004304.5(ALK):c.773A>G (p.His258Arg)
|
rs770063749
|
|
|
NM_004304.5(ALK):c.775C>A (p.Arg259Ser)
|
rs771593278
|
|
|
NM_004304.5(ALK):c.775C>G (p.Arg259Gly)
|
rs771593278
|
|
|
NM_004304.5(ALK):c.776G>C (p.Arg259Pro)
|
rs138686378
|
|
|
NM_004304.5(ALK):c.779G>A (p.Ser260Asn)
|
rs1679298966
|
|
|
NM_004304.5(ALK):c.77G>A (p.Gly26Asp)
|
rs755942639
|
|
|
NM_004304.5(ALK):c.780C>A (p.Ser260Arg)
|
|
|
|
NM_004304.5(ALK):c.780C>T (p.Ser260=)
|
rs1233157268
|
|
|
NM_004304.5(ALK):c.781C>G (p.Arg261Gly)
|
|
|
|
NM_004304.5(ALK):c.781C>T (p.Arg261Ter)
|
rs972790555
|
|
|
NM_004304.5(ALK):c.782G>A (p.Arg261Gln)
|
rs375097381
|
|
|
NM_004304.5(ALK):c.782G>T (p.Arg261Leu)
|
rs375097381
|
|
|
NM_004304.5(ALK):c.784T>C (p.Tyr262His)
|
rs2148307204
|
|
|
NM_004304.5(ALK):c.786T>C (p.Tyr262=)
|
|
|
|
NM_004304.5(ALK):c.787+14T>G
|
rs1394439148
|
|
|
NM_004304.5(ALK):c.787+16A>T
|
rs2148307184
|
|
|
NM_004304.5(ALK):c.787+17T>A
|
|
|
|
NM_004304.5(ALK):c.787+17T>C
|
rs1378706967
|
|
|
NM_004304.5(ALK):c.787+4A>C
|
rs377100808
|
|
|
NM_004304.5(ALK):c.787+4A>G
|
|
|
|
NM_004304.5(ALK):c.787+6T>C
|
rs1558457269
|
|
|
NM_004304.5(ALK):c.787+7A>G
|
rs1679298159
|
|
|
NM_004304.5(ALK):c.787+8T>A
|
rs2148307194
|
|
|
NM_004304.5(ALK):c.787G>A (p.Gly263Ser)
|
|
|
|
NM_004304.5(ALK):c.788-10A>G
|
rs1678514162
|
|
|
NM_004304.5(ALK):c.788-12C>T
|
rs1573561983
|
|
|
NM_004304.5(ALK):c.788-14G>A
|
|
|
|
NM_004304.5(ALK):c.788-18C>G
|
|
|
|
NM_004304.5(ALK):c.788-18C>T
|
|
|
|
NM_004304.5(ALK):c.788-19C>A
|
|
|
|
NM_004304.5(ALK):c.788-19C>T
|
|
|
|
NM_004304.5(ALK):c.788-1G>A
|
|
|
|
NM_004304.5(ALK):c.788-20A>C
|
|
|
|
NM_004304.5(ALK):c.788-2A>G
|
rs1678513810
|
|
|
NM_004304.5(ALK):c.788-3C>T
|
|
|
|
NM_004304.5(ALK):c.788-6T>A
|
|
|
|
NM_004304.5(ALK):c.788-6T>C
|
|
|
|
NM_004304.5(ALK):c.788-7A>T
|
rs770622974
|
|
|
NM_004304.5(ALK):c.788-7_788-5del
|
|
|
|
NM_004304.5(ALK):c.788-9T>C
|
|
|
|
NM_004304.5(ALK):c.788G>A (p.Gly263Asp)
|
|
|
|
NM_004304.5(ALK):c.788G>C (p.Gly263Ala)
|
|
|
|
NM_004304.5(ALK):c.790C>T (p.Leu264=)
|
rs2148290067
|
|
|
NM_004304.5(ALK):c.792G>A (p.Leu264=)
|
|
|
|
NM_004304.5(ALK):c.793G>C (p.Glu265Gln)
|
|
|
|
NM_004304.5(ALK):c.794A>G (p.Glu265Gly)
|
rs140497106
|
|
|
NM_004304.5(ALK):c.795G>A (p.Glu265=)
|
|
|
|
NM_004304.5(ALK):c.796T>A (p.Cys266Ser)
|
|
|
|
NM_004304.5(ALK):c.797G>A (p.Cys266Tyr)
|
|
|
|
NM_004304.5(ALK):c.798C>T (p.Cys266=)
|
|
|
|
NM_004304.5(ALK):c.7G>A (p.Ala3Thr)
|
rs1446332510
|
|
|
NM_004304.5(ALK):c.806A>G (p.Asp269Gly)
|
|
|
|
NM_004304.5(ALK):c.806A>T (p.Asp269Val)
|
|
|
|
NM_004304.5(ALK):c.807C>T (p.Asp269=)
|
|
|
|
NM_004304.5(ALK):c.812C>G (p.Pro271Arg)
|
rs1553348534
|
|
|
NM_004304.5(ALK):c.813del (p.Cys272fs)
|
|
|
|
NM_004304.5(ALK):c.814T>C (p.Cys272Arg)
|
|
|
|
NM_004304.5(ALK):c.816T>C (p.Cys272=)
|
rs1678511938
|
|
|
NM_004304.5(ALK):c.817G>A (p.Glu273Lys)
|
rs2148289990
|
|
|
NM_004304.5(ALK):c.817G>T (p.Glu273Ter)
|
|
|
|
NM_004304.5(ALK):c.819G>A (p.Glu273=)
|
|
|
|
NM_004304.5(ALK):c.820C>A (p.Leu274Met)
|
rs2148289980
|
|
|
NM_004304.5(ALK):c.821T>C (p.Leu274Pro)
|
|
|
|
NM_004304.5(ALK):c.822G>A (p.Leu274=)
|
rs1265006535
|
|
|
NM_004304.5(ALK):c.823G>C (p.Glu275Gln)
|
|
|
|
NM_004304.5(ALK):c.824A>G (p.Glu275Gly)
|
|
|
|
NM_004304.5(ALK):c.825G>A (p.Glu275=)
|
|
|
|
NM_004304.5(ALK):c.825G>T (p.Glu275Asp)
|
rs924625340
|
|
|
NM_004304.5(ALK):c.826T>C (p.Tyr276His)
|
rs1553348530
|
|
|
NM_004304.5(ALK):c.82C>G (p.Arg28Gly)
|
rs1060500231
|
|
|
NM_004304.5(ALK):c.82C>T (p.Arg28Cys)
|
rs1060500231
|
|
|
NM_004304.5(ALK):c.830C>A (p.Ser277Tyr)
|
rs1486167712
|
|
|
NM_004304.5(ALK):c.830C>G (p.Ser277Cys)
|
rs1486167712
|
|
|
NM_004304.5(ALK):c.832C>A (p.Pro278Thr)
|
rs762417760
|
|
|
NM_004304.5(ALK):c.833C>G (p.Pro278Arg)
|
rs199703254
|
|
|
NM_004304.5(ALK):c.836C>G (p.Pro279Arg)
|
|
|
|
NM_004304.5(ALK):c.838C>G (p.Leu280Val)
|
|
|
|
NM_004304.5(ALK):c.838C>T (p.Leu280=)
|
rs1287899598
|
|
|
NM_004304.5(ALK):c.83G>A (p.Arg28His)
|
rs1667969323
|
|
|
NM_004304.5(ALK):c.841C>T (p.His281Tyr)
|
|
|
|
NM_004304.5(ALK):c.842A>G (p.His281Arg)
|
rs1678510762
|
|
|
NM_004304.5(ALK):c.844G>A (p.Asp282Asn)
|
rs1678510612
|
|
|
NM_004304.5(ALK):c.844G>T (p.Asp282Tyr)
|
|
|
|
NM_004304.5(ALK):c.850A>G (p.Arg284Gly)
|
rs1199266892
|
|
|
NM_004304.5(ALK):c.850A>T (p.Arg284Trp)
|
rs1199266892
|
|
|
NM_004304.5(ALK):c.851G>A (p.Arg284Lys)
|
rs1558446131
|
|
|
NM_004304.5(ALK):c.858G>A (p.Gln286=)
|
|
|
|
NM_004304.5(ALK):c.85G>A (p.Ala29Thr)
|
rs1326321652
|
|
|
NM_004304.5(ALK):c.85G>T (p.Ala29Ser)
|
rs1326321652
|
|
|
NM_004304.5(ALK):c.861C>G (p.Ser287Arg)
|
rs1321970113
|
|
|
NM_004304.5(ALK):c.861C>T (p.Ser287=)
|
rs1321970113
|
|
|
NM_004304.5(ALK):c.862T>G (p.Trp288Gly)
|
|
|
|
NM_004304.5(ALK):c.863G>A (p.Trp288Ter)
|
rs1678509815
|
|
|
NM_004304.5(ALK):c.863G>T (p.Trp288Leu)
|
rs1678509815
|
|
|
NM_004304.5(ALK):c.864G>C (p.Trp288Cys)
|
|
|
|
NM_004304.5(ALK):c.864G>T (p.Trp288Cys)
|
rs1678509747
|
|
|
NM_004304.5(ALK):c.865T>C (p.Ser289Pro)
|
rs1678509684
|
|
|
NM_004304.5(ALK):c.866C>T (p.Ser289Phe)
|
|
|
|
NM_004304.5(ALK):c.867C>T (p.Ser289=)
|
|
|
|
NM_004304.5(ALK):c.86C>T (p.Ala29Val)
|
rs1667969126
|
|
|
NM_004304.5(ALK):c.870G>A (p.Trp290Ter)
|
rs1558446122
|
|
|
NM_004304.5(ALK):c.871C>A (p.Arg291Ser)
|
rs748854412
|
|
|
NM_004304.5(ALK):c.874C>G (p.Arg292Gly)
|
rs201750304
|
|
|
NM_004304.5(ALK):c.874C>T (p.Arg292Cys)
|
rs201750304
|
|
|
NM_004304.5(ALK):c.875G>T (p.Arg292Leu)
|
rs149145987
|
|
|
NM_004304.5(ALK):c.876C>T (p.Arg292=)
|
|
|
|
NM_004304.5(ALK):c.877A>G (p.Ile293Val)
|
rs2148289798
|
|
|
NM_004304.5(ALK):c.877A>T (p.Ile293Phe)
|
|
|
|
NM_004304.5(ALK):c.87G>C (p.Ala29=)
|
rs1408956474
|
|
|
NM_004304.5(ALK):c.881C>T (p.Pro294Leu)
|
rs1678508737
|
|
|
NM_004304.5(ALK):c.885C>A (p.Ser295=)
|
|
|
|
NM_004304.5(ALK):c.886G>A (p.Glu296Lys)
|
rs56077855
|
|
|
NM_004304.5(ALK):c.886G>C (p.Glu296Gln)
|
rs56077855
|
|
|
NM_004304.5(ALK):c.887A>T (p.Glu296Val)
|
rs1678508228
|
|
|
NM_004304.5(ALK):c.888G>A (p.Glu296=)
|
rs1678508164
|
|
|
NM_004304.5(ALK):c.889G>A (p.Glu297Lys)
|
rs2148289760
|
|
|
NM_004304.5(ALK):c.889G>C (p.Glu297Gln)
|
|
|
|
NM_004304.5(ALK):c.891G>A (p.Glu297=)
|
|
|
|
NM_004304.5(ALK):c.892G>T (p.Ala298Ser)
|
rs577240830
|
|
|
NM_004304.5(ALK):c.893C>T (p.Ala298Val)
|
rs750435024
|
|
|
NM_004304.5(ALK):c.894C>T (p.Ala298=)
|
rs2148289738
|
|
|
NM_004304.5(ALK):c.896C>A (p.Ser299Tyr)
|
|
|
|
NM_004304.5(ALK):c.897C>T (p.Ser299=)
|
rs1389708232
|
|
|
NM_004304.5(ALK):c.898C>A (p.Gln300Lys)
|
rs1254596043
|
|
|
NM_004304.5(ALK):c.89G>A (p.Gly30Asp)
|
rs1558550220
|
|
|
NM_004304.5(ALK):c.8C>T (p.Ala3Val)
|
|
|
|
NM_004304.5(ALK):c.900G>T (p.Gln300His)
|
rs1233069820
|
|
|
NM_004304.5(ALK):c.901A>G (p.Met301Val)
|
rs754427541
|
|
|
NM_004304.5(ALK):c.906C>A (p.Asp302Glu)
|
|
|
|
NM_004304.5(ALK):c.90C>T (p.Gly30=)
|
|
|
|
NM_004304.5(ALK):c.910C>T (p.Leu304=)
|
|
|
|
NM_004304.5(ALK):c.914A>G (p.Asp305Gly)
|
rs774123293
|
|
|
NM_004304.5(ALK):c.915T>C (p.Asp305=)
|
rs2148289680
|
|
|
NM_004304.5(ALK):c.916G>A (p.Gly306Arg)
|
rs879113112
|
|
|
NM_004304.5(ALK):c.917G>A (p.Gly306Glu)
|
rs2148289672
|
|
|
NM_004304.5(ALK):c.918G>A (p.Gly306=)
|
|
|
|
NM_004304.5(ALK):c.91T>G (p.Ser31Ala)
|
rs1026192345
|
|
|
NM_004304.5(ALK):c.920C>T (p.Pro307Leu)
|
|
|
|
NM_004304.5(ALK):c.921T>C (p.Pro307=)
|
rs1391544676
|
|
|
NM_004304.5(ALK):c.921T>G (p.Pro307=)
|
rs1391544676
|
|
|
NM_004304.5(ALK):c.925del (p.Ala309fs)
|
rs1573561737
|
|
|
NM_004304.5(ALK):c.925dup (p.Ala309fs)
|
rs1573561737
|
|
|
NM_004304.5(ALK):c.926C>A (p.Ala309Glu)
|
|
|
|
NM_004304.5(ALK):c.926C>T (p.Ala309Val)
|
rs748017801
|
|
|
NM_004304.5(ALK):c.928G>C (p.Glu310Gln)
|
rs2148289633
|
|
|
NM_004304.5(ALK):c.930G>A (p.Glu310=)
|
rs367712624
|
|
|
NM_004304.5(ALK):c.931C>A (p.Arg311Ser)
|
rs149837139
|
|
|
NM_004304.5(ALK):c.932G>C (p.Arg311Pro)
|
rs150966028
|
|
|
NM_004304.5(ALK):c.934_936del (p.Ser312del)
|
rs1678505254
|
|
|
NM_004304.5(ALK):c.937A>C (p.Lys313Gln)
|
|
|
|
NM_004304.5(ALK):c.939G>A (p.Lys313=)
|
rs1573561713
|
|
|
NM_004304.5(ALK):c.940_942del (p.Glu314del)
|
|
|
|
NM_004304.5(ALK):c.943A>T (p.Met315Leu)
|
|
|
|
NM_004304.5(ALK):c.944T>C (p.Met315Thr)
|
rs1678504929
|
|
|
NM_004304.5(ALK):c.945G>T (p.Met315Ile)
|
rs2148289584
|
|
|
NM_004304.5(ALK):c.946C>G (p.Pro316Ala)
|
|
|
|
NM_004304.5(ALK):c.946C>T (p.Pro316Ser)
|
rs1254406721
|
|
|
NM_004304.5(ALK):c.952+12G>A
|
|
|
|
NM_004304.5(ALK):c.952+15G>A
|
rs781259749
|
|
|
NM_004304.5(ALK):c.952+15G>T
|
|
|
|
NM_004304.5(ALK):c.952+17T>G
|
rs2148289521
|
|
|
NM_004304.5(ALK):c.952+18G>A
|
rs1678504078
|
|
|
NM_004304.5(ALK):c.952+19G>A
|
|
|
|
NM_004304.5(ALK):c.952+19G>C
|
|
|
|
NM_004304.5(ALK):c.952+1G>A
|
rs1678504706
|
|
|
NM_004304.5(ALK):c.952+3A>G
|
rs1200110360
|
|
|
NM_004304.5(ALK):c.952+3A>T
|
|
|
|
NM_004304.5(ALK):c.952+4A>G
|
|
|
|
NM_004304.5(ALK):c.952G>A (p.Gly318Ser)
|
rs878854661
|
|
|
NM_004304.5(ALK):c.953-14_964dup
|
|
|
|
NM_004304.5(ALK):c.953-15C>T
|
|
|
|
NM_004304.5(ALK):c.953-17T>C
|
|
|
|
NM_004304.5(ALK):c.953-20T>C
|
rs2148158866
|
|
|
NM_004304.5(ALK):c.953-2A>G
|
|
|
|
NM_004304.5(ALK):c.953-4C>T
|
rs1305945636
|
|
|
NM_004304.5(ALK):c.953-7T>C
|
|
|
|
NM_004304.5(ALK):c.953-8C>T
|
rs1239282210
|
|
|
NM_004304.5(ALK):c.953G>A (p.Gly318Asp)
|
rs770893847
|
|
|
NM_004304.5(ALK):c.953G>C (p.Gly318Ala)
|
|
|
|
NM_004304.5(ALK):c.953G>T (p.Gly318Val)
|
|
|
|
NM_004304.5(ALK):c.957C>G (p.Ser319=)
|
rs1673137075
|
|
|
NM_004304.5(ALK):c.957C>T (p.Ser319=)
|
rs1673137075
|
|
|
NM_004304.5(ALK):c.95C>G (p.Pro32Arg)
|
|
|
|
NM_004304.5(ALK):c.95C>T (p.Pro32Leu)
|
rs759748510
|
|
|
NM_004304.5(ALK):c.961C>T (p.Leu321Phe)
|
|
|
|
NM_004304.5(ALK):c.964C>T (p.Leu322Phe)
|
|
|
|
NM_004304.5(ALK):c.966_968del (p.Leu323del)
|
rs1673136781
|
|
|
NM_004304.5(ALK):c.967C>T (p.Leu323Phe)
|
|
|
|
NM_004304.5(ALK):c.96A>G (p.Pro32=)
|
|
|
|
NM_004304.5(ALK):c.970A>G (p.Asn324Asp)
|
|
|
|
NM_004304.5(ALK):c.971A>G (p.Asn324Ser)
|
rs1558370621
|
|
|
NM_004304.5(ALK):c.978A>G (p.Ser326=)
|
rs756622399
|
|
|
NM_004304.5(ALK):c.979G>T (p.Ala327Ser)
|
|
|
|
NM_004304.5(ALK):c.97G>T (p.Ala33Ser)
|
|
|
|
NM_004304.5(ALK):c.984C>T (p.Asp328=)
|
|
|
|
NM_004304.5(ALK):c.985T>G (p.Ser329Ala)
|
rs1673136181
|
|
|
NM_004304.5(ALK):c.98C>G (p.Ala33Gly)
|
rs1037134870
|
|
|
NM_004304.5(ALK):c.990G>A (p.Lys330=)
|
rs1247687646
|
|
|
NM_004304.5(ALK):c.990G>T (p.Lys330Asn)
|
|
|
|
NM_004304.5(ALK):c.991C>T (p.His331Tyr)
|
|
|
|
NM_004304.5(ALK):c.993C>T (p.His331=)
|
|
|
|
NM_004304.5(ALK):c.994A>G (p.Thr332Ala)
|
rs1673135833
|
|
|
NM_004304.5(ALK):c.99T>C (p.Ala33=)
|
|
|
|
NM_004304.5(ALK):c.9C>T (p.Ala3=)
|
rs2148444182
|
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
|
NM_004484.3(GPC3):c.-197-?_*379+?dup
|
|
|
|
NM_004484.3(GPC3):c.1574-?_*379+?del
|
|
|
|
NM_004484.4(GPC3):c.1004A>C (p.Gln335Pro)
|
rs2071687961
|
|
|
NM_004484.4(GPC3):c.1004A>G (p.Gln335Arg)
|
|
|
|
NM_004484.4(GPC3):c.1008G>A (p.Lys336=)
|
rs773421934
|
|
|
NM_004484.4(GPC3):c.1008G>C (p.Lys336Asn)
|
|
|
|
NM_004484.4(GPC3):c.100A>G (p.Thr34Ala)
|
rs1602581109
|
|
|
NM_004484.4(GPC3):c.1011T>C (p.Asn337=)
|
rs2124479734
|
|
|
NM_004484.4(GPC3):c.1012G>A (p.Ala338Thr)
|
|
|
|
NM_004484.4(GPC3):c.1019A>G (p.Lys340Arg)
|
rs1603240431
|
|
|
NM_004484.4(GPC3):c.1020G>C (p.Lys340Asn)
|
rs2124479719
|
|
|
NM_004484.4(GPC3):c.1021C>G (p.Leu341Val)
|
rs1569426033
|
|
|
NM_004484.4(GPC3):c.1023G>A (p.Leu341=)
|
rs1603240427
|
|
|
NM_004484.4(GPC3):c.1027A>G (p.Thr343Ala)
|
rs2071687500
|
|
|
NM_004484.4(GPC3):c.1029C>T (p.Thr343=)
|
rs890143711
|
|
|
NM_004484.4(GPC3):c.1030A>T (p.Thr344Ser)
|
rs2124479705
|
|
|
NM_004484.4(GPC3):c.1032+10_1032+11delinsTT
|
rs1556297529
|
|
|
NM_004484.4(GPC3):c.1032+4A>G
|
rs2124479692
|
|
|
NM_004484.4(GPC3):c.1032+5G>A
|
rs2071687291
|
|
|
NM_004484.4(GPC3):c.1032+8C>G
|
rs2124479685
|
|
|
NM_004484.4(GPC3):c.1032+9C>A
|
|
|
|
NM_004484.4(GPC3):c.1032+9C>G
|
rs200782847
|
|
|
NM_004484.4(GPC3):c.1032T>C (p.Thr344=)
|
rs2124479695
|
|
|
NM_004484.4(GPC3):c.1033-10C>A
|
|
|
|
NM_004484.4(GPC3):c.1033-17T>A
|
|
|
|
NM_004484.4(GPC3):c.1033-20T>A
|
|
|
|
NM_004484.4(GPC3):c.1033-20T>C
|
|
|
|
NM_004484.4(GPC3):c.1033-9dup
|
rs1261922262
|
|
|
NM_004484.4(GPC3):c.1035T>A (p.Ile345=)
|
|
|
|
NM_004484.4(GPC3):c.1036G>A (p.Gly346Ser)
|
|
|
|
NM_004484.4(GPC3):c.103T>G (p.Cys35Gly)
|
|
|
|
NM_004484.4(GPC3):c.1045T>C (p.Cys349Arg)
|
rs2071153160
|
|
|
NM_004484.4(GPC3):c.1048G>A (p.Ala350Thr)
|
rs2124437635
|
|
|
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr)
|
rs2071153064
|
|
|
NM_004484.4(GPC3):c.1052A>T (p.His351Leu)
|
|
|
|
NM_004484.4(GPC3):c.1058AAC[1] (p.Gln354del)
|
rs1569416621
|
|
|
NM_004484.4(GPC3):c.1064G>A (p.Arg355His)
|
rs1556271627
|
|
|
NM_004484.4(GPC3):c.1069T>G (p.Tyr357Asp)
|
|
|
|
NM_004484.4(GPC3):c.1085A>G (p.Tyr362Cys)
|
rs878854705
|
|
|
NM_004484.4(GPC3):c.1088C>G (p.Pro363Arg)
|
|
|
|
NM_004484.4(GPC3):c.1096C>T (p.Leu366Phe)
|
rs2124437551
|
|
|
NM_004484.4(GPC3):c.1098C>T (p.Leu366=)
|
rs747190100
|
|
|
NM_004484.4(GPC3):c.1099T>A (p.Phe367Ile)
|
|
|
|
NM_004484.4(GPC3):c.1103T>C (p.Ile368Thr)
|
rs1569416581
|
|
|
NM_004484.4(GPC3):c.1105G>A (p.Asp369Asn)
|
|
|
|
NM_004484.4(GPC3):c.1109A>G (p.Lys370Arg)
|
|
|
|
NM_004484.4(GPC3):c.1111A>C (p.Lys371Gln)
|
rs755221081
|
|
|
NM_004484.4(GPC3):c.1113A>G (p.Lys371=)
|
|
|
|
NM_004484.4(GPC3):c.1130A>C (p.His377Pro)
|
|
|
|
NM_004484.4(GPC3):c.1130A>G (p.His377Arg)
|
rs1060502172
|
|
|
NM_004484.4(GPC3):c.1130A>T (p.His377Leu)
|
rs1060502172
|
|
|
NM_004484.4(GPC3):c.1139A>C (p.His380Pro)
|
|
|
|
NM_004484.4(GPC3):c.1139A>G (p.His380Arg)
|
rs1201293547
|
|
|
NM_004484.4(GPC3):c.113T>A (p.Val38Asp)
|
rs1602581095
|
|
|
NM_004484.4(GPC3):c.113T>C (p.Val38Ala)
|
rs1602581095
|
|
|
NM_004484.4(GPC3):c.1143A>G (p.Glu381=)
|
|
|
|
NM_004484.4(GPC3):c.1155C>T (p.Ser385=)
|
|
|
|
NM_004484.4(GPC3):c.1156A>G (p.Ser386Gly)
|
|
|
|
NM_004484.4(GPC3):c.1158C>A (p.Ser386Arg)
|
rs1317567175
|
|
|
NM_004484.4(GPC3):c.1158C>G (p.Ser386Arg)
|
rs1317567175
|
|
|
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
|
rs122453121
|
|
|
NM_004484.4(GPC3):c.1161AAG[1] (p.Arg389del)
|
rs1556271258
|
|
|
NM_004484.4(GPC3):c.1166+15T>C
|
|
|
|
NM_004484.4(GPC3):c.1166+19C>G
|
rs2124437379
|
|
|
NM_004484.4(GPC3):c.1166+19C>T
|
|
|
|
NM_004484.4(GPC3):c.1166+20T>C
|
|
|
|
NM_004484.4(GPC3):c.1166+3G>A
|
rs1603228263
|
|
|
NM_004484.4(GPC3):c.1166+6A>G
|
rs2124437397
|
|
|
NM_004484.4(GPC3):c.1166+8G>A
|
rs2124437393
|
|
|
NM_004484.4(GPC3):c.1166+8G>T
|
rs2124437393
|
|
|
NM_004484.4(GPC3):c.1166G>T (p.Arg389Met)
|
|
|
|
NM_004484.4(GPC3):c.1167-12T>C
|
rs2124430999
|
|
|
NM_004484.4(GPC3):c.1167-13G>A
|
|
|
|
NM_004484.4(GPC3):c.1167-13G>C
|
|
|
|
NM_004484.4(GPC3):c.1167-15T>C
|
rs1603226545
|
|
|
NM_004484.4(GPC3):c.1167-20A>G
|
rs966564128
|
|
|
NM_004484.4(GPC3):c.1167-3del
|
rs2124430989
|
|
|
NM_004484.4(GPC3):c.1168G>A (p.Glu390Lys)
|
|
|
|
NM_004484.4(GPC3):c.1169A>C (p.Glu390Ala)
|
|
|
|
NM_004484.4(GPC3):c.116G>T (p.Arg39Leu)
|
|
|
|
NM_004484.4(GPC3):c.1170A>T (p.Glu390Asp)
|
rs752110529
|
|
|
NM_004484.4(GPC3):c.1175T>C (p.Ile392Thr)
|
|
|
|
NM_004484.4(GPC3):c.1183T>C (p.Leu395=)
|
|
|
|
NM_004484.4(GPC3):c.1184T>G (p.Leu395Trp)
|
|
|
|
NM_004484.4(GPC3):c.1187A>G (p.Lys396Arg)
|
|
|
|
NM_004484.4(GPC3):c.1188G>A (p.Lys396=)
|
|
|
|
NM_004484.4(GPC3):c.1188G>C (p.Lys396Asn)
|
|
|
|
NM_004484.4(GPC3):c.1190C>G (p.Ser397Cys)
|
|
|
|
NM_004484.4(GPC3):c.1190C>T (p.Ser397Phe)
|
rs2071074547
|
|
|
NM_004484.4(GPC3):c.1196T>C (p.Ile399Thr)
|
|
|
|
NM_004484.4(GPC3):c.1198A>T (p.Ser400Cys)
|
rs1603226518
|
|
|
NM_004484.4(GPC3):c.1199G>A (p.Ser400Asn)
|
|
|
|
NM_004484.4(GPC3):c.11C>G (p.Thr4Ser)
|
|
|
|
NM_004484.4(GPC3):c.11C>T (p.Thr4Ile)
|
|
|
|
NM_004484.4(GPC3):c.1200C>T (p.Ser400=)
|
rs1481312903
|
|
|
NM_004484.4(GPC3):c.1201T>A (p.Phe401Ile)
|
|
|
|
NM_004484.4(GPC3):c.1205A>G (p.Tyr402Cys)
|
rs1173924969
|
|
|
NM_004484.4(GPC3):c.1208G>C (p.Ser403Thr)
|
|
|
|
NM_004484.4(GPC3):c.1209T>C (p.Ser403=)
|
rs1456710707
|
|
|
NM_004484.4(GPC3):c.1209T>G (p.Ser403Arg)
|
rs1456710707
|
|
|
NM_004484.4(GPC3):c.120C>G (p.Ser40=)
|
rs1220902363
|
|
|
NM_004484.4(GPC3):c.1212T>C (p.Ala404=)
|
rs1556263726
|
|
|
NM_004484.4(GPC3):c.1214T>C (p.Leu405Ser)
|
rs2071073967
|
|
|
NM_004484.4(GPC3):c.1226T>G (p.Ile409Ser)
|
rs2071073649
|
|
|
NM_004484.4(GPC3):c.1228T>C (p.Cys410Arg)
|
|
|
|
NM_004484.4(GPC3):c.1231A>C (p.Ser411Arg)
|
rs2124430814
|
|
|
NM_004484.4(GPC3):c.1233C>T (p.Ser411=)
|
|
|
|
NM_004484.4(GPC3):c.1235A>G (p.His412Arg)
|
rs2071073427
|
|
|
NM_004484.4(GPC3):c.1236T>C (p.His412=)
|
|
|
|
NM_004484.4(GPC3):c.1239C>A (p.Ser413Arg)
|
|
|
|
NM_004484.4(GPC3):c.1239C>T (p.Ser413=)
|
rs2124430790
|
|
|
NM_004484.4(GPC3):c.1240C>T (p.Pro414Ser)
|
rs2071073330
|
|
|
NM_004484.4(GPC3):c.1243G>A (p.Val415Met)
|
|
|
|
NM_004484.4(GPC3):c.1251A>G (p.Glu417=)
|
rs2124430772
|
|
|
NM_004484.4(GPC3):c.1259C>G (p.Thr420Ser)
|
rs377381100
|
|
|
NM_004484.4(GPC3):c.1262T>G (p.Leu421Arg)
|
|
|
|
NM_004484.4(GPC3):c.1264T>A (p.Cys422Ser)
|
rs1569415183
|
|
|
NM_004484.4(GPC3):c.1268G>A (p.Trp423Ter)
|
|
|
|
NM_004484.4(GPC3):c.1269G>A (p.Trp423Ter)
|
rs2071072718
|
|
|
NM_004484.4(GPC3):c.126C>A (p.Phe42Leu)
|
rs1345541727
|
|
|
NM_004484.4(GPC3):c.1271A>G (p.Asn424Ser)
|
|
|
|
NM_004484.4(GPC3):c.1280A>G (p.Glu427Gly)
|
rs2071072569
|
|
|
NM_004484.4(GPC3):c.1281A>G (p.Glu427=)
|
rs2124430685
|
|
|
NM_004484.4(GPC3):c.1284C>T (p.Leu428=)
|
rs2124430679
|
|
|
NM_004484.4(GPC3):c.1285G>C (p.Val429Leu)
|
rs11539789
|
|
|
NM_004484.4(GPC3):c.1286T>C (p.Val429Ala)
|
rs755117392
|
|
|
NM_004484.4(GPC3):c.1288G>A (p.Glu430Lys)
|
rs2124430649
|
|
|
NM_004484.4(GPC3):c.1292+17G>T
|
|
|
|
NM_004484.4(GPC3):c.1292+18T>A
|
|
|
|
NM_004484.4(GPC3):c.1292+19T>C
|
rs2124430634
|
|
|
NM_004484.4(GPC3):c.1292+2T>A
|
rs2071072322
|
|
|
NM_004484.4(GPC3):c.1293-11C>T
|
rs2124401934
|
|
|
NM_004484.4(GPC3):c.1293-15C>T
|
rs2124401937
|
|
|
NM_004484.4(GPC3):c.1293-3C>T
|
|
|
|
NM_004484.4(GPC3):c.1293-8C>G
|
rs2124401928
|
|
|
NM_004484.4(GPC3):c.1293-8C>T
|
rs2124401928
|
|
|
NM_004484.4(GPC3):c.1293A>G (p.Arg431=)
|
|
|
|
NM_004484.4(GPC3):c.12C>A (p.Thr4=)
|
|
|
|
NM_004484.4(GPC3):c.12C>T (p.Thr4=)
|
|
|
|
NM_004484.4(GPC3):c.1300C>T (p.Gln434Ter)
|
|
|
|
NM_004484.4(GPC3):c.1301A>G (p.Gln434Arg)
|
|
|
|
NM_004484.4(GPC3):c.1306G>T (p.Ala436Ser)
|
rs1556233681
|
|
|
NM_004484.4(GPC3):c.1307del (p.Ala436fs)
|
rs1569408743
|
|
|
NM_004484.4(GPC3):c.1310C>G (p.Ala437Gly)
|
|
|
|
NM_004484.4(GPC3):c.1313G>A (p.Arg438Lys)
|
rs2070729910
|
|
|
NM_004484.4(GPC3):c.1314G>A (p.Arg438=)
|
rs2124401881
|
|
|
NM_004484.4(GPC3):c.1315A>G (p.Asn439Asp)
|
rs2070729852
|
|
|
NM_004484.4(GPC3):c.1316A>G (p.Asn439Ser)
|
rs2124401875
|
|
|
NM_004484.4(GPC3):c.132A>G (p.Arg44=)
|
|
|
|
NM_004484.4(GPC3):c.1330C>G (p.Gln444Glu)
|
rs1556233629
|
|
|
NM_004484.4(GPC3):c.1330C>T (p.Gln444Ter)
|
|
|
|
NM_004484.4(GPC3):c.1331A>G (p.Gln444Arg)
|
|
|
|
NM_004484.4(GPC3):c.1331A>T (p.Gln444Leu)
|
rs1053066164
|
|
|
NM_004484.4(GPC3):c.1336_1341del (p.Asn446_Leu447del)
|
|
|
|
NM_004484.4(GPC3):c.1337del (p.Asn446fs)
|
|
|
|
NM_004484.4(GPC3):c.1344T>A (p.His448Gln)
|
|
|
|
NM_004484.4(GPC3):c.1361G>A (p.Gly454Asp)
|
|
|
|
NM_004484.4(GPC3):c.1367A>G (p.Glu456Gly)
|
|
|
|
NM_004484.4(GPC3):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_004484.4(GPC3):c.136C>G (p.Gln46Glu)
|
rs1556367745
|
|
|
NM_004484.4(GPC3):c.1370C>T (p.Pro457Leu)
|
|
|
|
NM_004484.4(GPC3):c.1377C>T (p.Val459=)
|
|
|
|
NM_004484.4(GPC3):c.1379_1382del (p.Ser460fs)
|
rs2124401794
|
|
|
NM_004484.4(GPC3):c.1381C>G (p.Gln461Glu)
|
rs1603215815
|
|
|
NM_004484.4(GPC3):c.1388T>C (p.Ile463Thr)
|
rs2124401790
|
|
|
NM_004484.4(GPC3):c.1394A>G (p.Lys465Arg)
|
|
|
|
NM_004484.4(GPC3):c.1399A>G (p.Lys467Glu)
|
|
|
|
NM_004484.4(GPC3):c.1401G>A (p.Lys467=)
|
|
|
|
NM_004484.4(GPC3):c.1405A>G (p.Ile469Val)
|
rs2070728648
|
|
|
NM_004484.4(GPC3):c.1409A>G (p.Asn470Ser)
|
rs1556233454
|
|
|
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu)
|
rs2076562505
|
|
|
NM_004484.4(GPC3):c.1410C>G (p.Asn470Lys)
|
|
|
|
NM_004484.4(GPC3):c.1413+11T>C
|
|
|
|
NM_004484.4(GPC3):c.1413+11del
|
|
|
|
NM_004484.4(GPC3):c.1413+12A>G
|
rs2124401731
|
|
|
NM_004484.4(GPC3):c.1413+13del
|
|
|
|
NM_004484.4(GPC3):c.1413+18A>G
|
|
|
|
NM_004484.4(GPC3):c.1413+2T>A
|
rs2124401750
|
|
|
NM_004484.4(GPC3):c.1413+3A>G
|
rs2124401746
|
|
|
NM_004484.4(GPC3):c.1413+5G>A
|
rs2070728440
|
|
|
NM_004484.4(GPC3):c.1413G>A (p.Gln471=)
|
|
|
|
NM_004484.4(GPC3):c.1414-16G>T
|
rs753432691
|
|
|
NM_004484.4(GPC3):c.1414-1G>C
|
|
|
|
NM_004484.4(GPC3):c.1414-3C>A
|
|
|
|
NM_004484.4(GPC3):c.1414-3C>T
|
rs2069919599
|
|
|
NM_004484.4(GPC3):c.1414-9T>C
|
rs2124331197
|
|
|
NM_004484.4(GPC3):c.1419G>T (p.Leu473=)
|
rs2069919503
|
|
|
NM_004484.4(GPC3):c.141C>T (p.Pro47=)
|
|
|
|
NM_004484.4(GPC3):c.1424C>T (p.Thr475Ile)
|
rs2069919421
|
|
|
NM_004484.4(GPC3):c.1425C>G (p.Thr475=)
|
|
|
|
NM_004484.4(GPC3):c.1425C>T (p.Thr475=)
|
rs760974627
|
|
|
NM_004484.4(GPC3):c.1426A>T (p.Met476Leu)
|
rs200265913
|
|
|
NM_004484.4(GPC3):c.1429T>A (p.Ser477Thr)
|
rs2069919041
|
|
|
NM_004484.4(GPC3):c.1438A>G (p.Lys480Glu)
|
|
|
|
NM_004484.4(GPC3):c.1440A>G (p.Lys480=)
|
|
|
|
NM_004484.4(GPC3):c.1450C>A (p.Leu484Met)
|
rs2124331070
|
|
|
NM_004484.4(GPC3):c.1453G>A (p.Asp485Asn)
|
rs750171653
|
|
|
NM_004484.4(GPC3):c.1453G>T (p.Asp485Tyr)
|
|
|
|
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala)
|
rs2069918325
|
|
|
NM_004484.4(GPC3):c.1461C>T (p.Asn487=)
|
rs1464494006
|
|
|
NM_004484.4(GPC3):c.1467T>C (p.Asp489=)
|
rs2124331046
|
|
|
NM_004484.4(GPC3):c.1468G>A (p.Glu490Lys)
|
|
|
|
NM_004484.4(GPC3):c.1471G>T (p.Glu491Ter)
|
rs1569392947
|
|
|
NM_004484.4(GPC3):c.1476G>A (p.Gly492=)
|
rs2069918045
|
|
|
NM_004484.4(GPC3):c.1488A>G (p.Gly496=)
|
|
|
|
NM_004484.4(GPC3):c.149A>G (p.Lys50Arg)
|
|
|
|
NM_004484.4(GPC3):c.1502A>G (p.Asp501Gly)
|
rs2124330961
|
|
|
NM_004484.4(GPC3):c.1511A>G (p.Glu504Gly)
|
|
|
|
NM_004484.4(GPC3):c.1514G>T (p.Cys505Phe)
|
rs2069917028
|
|
|
NM_004484.4(GPC3):c.1516A>G (p.Ile506Val)
|
rs1603183279
|
|
|
NM_004484.4(GPC3):c.1518T>A (p.Ile506=)
|
rs2124330920
|
|
|
NM_004484.4(GPC3):c.1519G>C (p.Gly507Arg)
|
|
|
|
NM_004484.4(GPC3):c.1523G>T (p.Gly508Val)
|
|
|
|
NM_004484.4(GPC3):c.1524C>T (p.Gly508=)
|
|
|
|
NM_004484.4(GPC3):c.1528G>A (p.Gly510Ser)
|
rs1556159260
|
|
|
NM_004484.4(GPC3):c.1534G>A (p.Gly512Arg)
|
rs1556159239
|
|
|
NM_004484.4(GPC3):c.1537A>C (p.Met513Leu)
|
rs2069916427
|
|
|
NM_004484.4(GPC3):c.1538T>A (p.Met513Lys)
|
rs2069916333
|
|
|
NM_004484.4(GPC3):c.1539G>A (p.Met513Ile)
|
|
|
|
NM_004484.4(GPC3):c.1541T>C (p.Ile514Thr)
|
|
|
|
NM_004484.4(GPC3):c.1553A>G (p.Asn518Ser)
|
|
|
|
NM_004484.4(GPC3):c.1553A>T (p.Asn518Ile)
|
rs2069915935
|
|
|
NM_004484.4(GPC3):c.1560C>A (p.Leu520=)
|
|
|
|
NM_004484.4(GPC3):c.1562G>A (p.Arg521His)
|
rs2069915768
|
|
|
NM_004484.4(GPC3):c.1566C>T (p.Phe522=)
|
|
|
|
NM_004484.4(GPC3):c.1569del (p.Ala524fs)
|
rs2124330798
|
|
|
NM_004484.4(GPC3):c.1571C>A (p.Ala524Glu)
|
|
|
|
NM_004484.4(GPC3):c.1573+10T>A
|
rs878854706
|
|
|
NM_004484.4(GPC3):c.1573+15C>T
|
|
|
|
NM_004484.4(GPC3):c.1573+20C>G
|
|
|
|
NM_004484.4(GPC3):c.1573+5C>T
|
|
|
|
NM_004484.4(GPC3):c.1573+9T>G
|
rs1387529611
|
|
|
NM_004484.4(GPC3):c.1574-11T>C
|
|
|
|
NM_004484.4(GPC3):c.1574-3C>A
|
|
|
|
NM_004484.4(GPC3):c.1574-7_1574-4del
|
rs751413609
|
|
|
NM_004484.4(GPC3):c.1574-9_1574-7dup
|
|
|
|
NM_004484.4(GPC3):c.1578G>A (p.Leu526=)
|
|
|
|
NM_004484.4(GPC3):c.1582T>C (p.Tyr528His)
|
rs779769588
|
|
|
NM_004484.4(GPC3):c.1586A>G (p.Asp529Gly)
|
|
|
|
NM_004484.4(GPC3):c.1587T>A (p.Asp529Glu)
|
|
|
|
NM_004484.4(GPC3):c.158C>T (p.Pro53Leu)
|
|
|
|
NM_004484.4(GPC3):c.1592A>T (p.Asp531Val)
|
rs2069291115
|
|
|
NM_004484.4(GPC3):c.1593T>C (p.Asp531=)
|
|
|
|
NM_004484.4(GPC3):c.1594G>T (p.Val532Leu)
|
rs1603139499
|
|
|
NM_004484.4(GPC3):c.1595T>C (p.Val532Ala)
|
|
|
|
NM_004484.4(GPC3):c.1598ATG[1] (p.Asp534del)
|
|
|
|
NM_004484.4(GPC3):c.1600G>A (p.Asp534Asn)
|
rs2069290892
|
|
|
NM_004484.4(GPC3):c.1604C>G (p.Ala535Gly)
|
rs750138489
|
|
|
NM_004484.4(GPC3):c.1605G>T (p.Ala535=)
|
rs767097459
|
|
|
NM_004484.4(GPC3):c.1606C>T (p.Pro536Ser)
|
|
|
|
NM_004484.4(GPC3):c.1610G>C (p.Gly537Ala)
|
rs2069290389
|
|
|
NM_004484.4(GPC3):c.1613A>G (p.Asn538Ser)
|
rs2124257689
|
|
|
NM_004484.4(GPC3):c.1615A>G (p.Ser539Gly)
|
rs2069290326
|
|
|
NM_004484.4(GPC3):c.1617T>A (p.Ser539Arg)
|
|
|
|
NM_004484.4(GPC3):c.1631C>G (p.Pro544Arg)
|
|
|
|
NM_004484.4(GPC3):c.1636G>A (p.Asp546Asn)
|
rs2069289779
|
|
|
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)
|
rs2069289549
|
|
|
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val)
|
rs2124257541
|
|
|
NM_004484.4(GPC3):c.1647A>T (p.Ile549=)
|
rs2069289280
|
|
|
NM_004484.4(GPC3):c.1649G>C (p.Ser550Thr)
|
rs2069289201
|
|
|
NM_004484.4(GPC3):c.1659C>G (p.His553Gln)
|
rs2069288907
|
|
|
NM_004484.4(GPC3):c.1661A>G (p.Asn554Ser)
|
rs2069288846
|
|
|
NM_004484.4(GPC3):c.1661A>T (p.Asn554Ile)
|
|
|
|
NM_004484.4(GPC3):c.1662C>T (p.Asn554=)
|
rs2124257485
|
|
|
NM_004484.4(GPC3):c.1663C>T (p.Leu555Phe)
|
rs990733015
|
|
|
NM_004484.4(GPC3):c.1665C>G (p.Leu555=)
|
rs1248944051
|
|
|
NM_004484.4(GPC3):c.1665C>T (p.Leu555=)
|
rs1248944051
|
|
|
NM_004484.4(GPC3):c.1666G>C (p.Gly556Arg)
|
rs267606850
|
|
|
NM_004484.4(GPC3):c.1669A>T (p.Asn557Tyr)
|
rs2069288554
|
|
|
NM_004484.4(GPC3):c.166C>T (p.Pro56Ser)
|
|
|
|
NM_004484.4(GPC3):c.1672G>A (p.Val558Ile)
|
rs2069288412
|
|
|
NM_004484.4(GPC3):c.1672G>T (p.Val558Phe)
|
|
|
|
NM_004484.4(GPC3):c.1675C>T (p.His559Tyr)
|
|
|
|
NM_004484.4(GPC3):c.1676A>G (p.His559Arg)
|
|
|
|
NM_004484.4(GPC3):c.1677T>C (p.His559=)
|
|
|
|
NM_004484.4(GPC3):c.1679C>T (p.Ser560Phe)
|
|
|
|
NM_004484.4(GPC3):c.1681C>T (p.Pro561Ser)
|
rs1569375662
|
|
|
NM_004484.4(GPC3):c.1696A>G (p.Thr566Ala)
|
rs2069287938
|
|
|
NM_004484.4(GPC3):c.169G>A (p.Val57Met)
|
rs2076562120
|
|
|
NM_004484.4(GPC3):c.16C>G (p.Arg6Gly)
|
|
|
|
NM_004484.4(GPC3):c.1700G>C (p.Ser567Thr)
|
|
|
|
NM_004484.4(GPC3):c.1701C>T (p.Ser567=)
|
|
|
|
NM_004484.4(GPC3):c.1702A>G (p.Met568Val)
|
rs1277140205
|
|
|
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr)
|
rs122453120
|
|
|
NM_004484.4(GPC3):c.170T>G (p.Val57Gly)
|
rs2124655641
|
|
|
NM_004484.4(GPC3):c.1711T>C (p.Ser571Pro)
|
rs2069287413
|
|
|
NM_004484.4(GPC3):c.1712C>T (p.Ser571Leu)
|
|
|
|
NM_004484.4(GPC3):c.1714G>A (p.Val572Met)
|
rs2069287188
|
|
|
NM_004484.4(GPC3):c.1714G>T (p.Val572Leu)
|
rs2069287188
|
|
|
NM_004484.4(GPC3):c.1718T>C (p.Val573Ala)
|
rs1603139289
|
|
|
NM_004484.4(GPC3):c.1719G>A (p.Val573=)
|
|
|
|
NM_004484.4(GPC3):c.1723TTC[2] (p.Phe577del)
|
rs1269354535
|
|
|
NM_004484.4(GPC3):c.1724T>G (p.Phe575Cys)
|
rs981077333
|
|
|
NM_004484.4(GPC3):c.1725C>T (p.Phe575=)
|
rs925042479
|
|
|
NM_004484.4(GPC3):c.1731C>T (p.Phe577=)
|
|
|
|
NM_004484.4(GPC3):c.1734G>A (p.Leu578=)
|
rs2124257150
|
|
|
NM_004484.4(GPC3):c.1735G>A (p.Val579Met)
|
|
|
|
NM_004484.4(GPC3):c.1737G>A (p.Val579=)
|
rs1556111517
|
|
|
NM_004484.4(GPC3):c.1737G>C (p.Val579=)
|
|
|
|
NM_004484.4(GPC3):c.1738C>T (p.His580Tyr)
|
rs1060502173
|
|
|
NM_004484.4(GPC3):c.1739A>C (p.His580Pro)
|
|
|
|
NM_004484.4(GPC3):c.1742G>T (p.Ter581Leu)
|
|
|
|
NM_004484.4(GPC3):c.175+11G>A
|
|
|
|
NM_004484.4(GPC3):c.175+2T>C
|
rs2124655627
|
|
|
NM_004484.4(GPC3):c.175+7A>C
|
|
|
|
NM_004484.4(GPC3):c.175+7_175+9del
|
rs2076561928
|
|
|
NM_004484.4(GPC3):c.175+8G>C
|
rs2124655623
|
|
|
NM_004484.4(GPC3):c.175+9G>C
|
rs776234359
|
|
|
NM_004484.4(GPC3):c.176-13T>G
|
|
|
|
NM_004484.4(GPC3):c.176-14C>A
|
|
|
|
NM_004484.4(GPC3):c.176-14C>T
|
|
|
|
NM_004484.4(GPC3):c.176-20G>A
|
|
|
|
NM_004484.4(GPC3):c.176-8T>C
|
|
|
|
NM_004484.4(GPC3):c.176G>A (p.Gly59Glu)
|
|
|
|
NM_004484.4(GPC3):c.17G>T (p.Arg6Leu)
|
|
|
|
NM_004484.4(GPC3):c.180A>C (p.Ser60=)
|
rs2124634903
|
|
|
NM_004484.4(GPC3):c.181G>C (p.Asp61His)
|
rs2124634901
|
|
|
NM_004484.4(GPC3):c.184T>C (p.Leu62=)
|
|
|
|
NM_004484.4(GPC3):c.192A>G (p.Val64=)
|
rs2076401014
|
|
|
NM_004484.4(GPC3):c.19A>C (p.Thr7Pro)
|
rs773144223
|
|
|
NM_004484.4(GPC3):c.19A>T (p.Thr7Ser)
|
|
|
|
NM_004484.4(GPC3):c.204G>T (p.Lys68Asn)
|
rs61754632
|
|
|
NM_004484.4(GPC3):c.205G>T (p.Gly69Cys)
|
rs2124634887
|
|
|
NM_004484.4(GPC3):c.206G>A (p.Gly69Asp)
|
|
|
|
NM_004484.4(GPC3):c.209C>T (p.Pro70Leu)
|
|
|
|
NM_004484.4(GPC3):c.210A>T (p.Pro70=)
|
rs2124634878
|
|
|
NM_004484.4(GPC3):c.219C>T (p.Cys73=)
|
rs2076400785
|
|
|
NM_004484.4(GPC3):c.21C>T (p.Thr7=)
|
rs192833218
|
|
|
NM_004484.4(GPC3):c.220T>G (p.Ser74Ala)
|
rs1556359373
|
|
|
NM_004484.4(GPC3):c.222A>C (p.Ser74=)
|
rs1556359362
|
|
|
NM_004484.4(GPC3):c.227A>G (p.Lys76Arg)
|
|
|
|
NM_004484.4(GPC3):c.236A>G (p.Glu79Gly)
|
rs2076400695
|
|
|
NM_004484.4(GPC3):c.23C>T (p.Ala8Val)
|
rs1322259717
|
|
|
NM_004484.4(GPC3):c.240A>G (p.Lys80=)
|
rs2076400678
|
|
|
NM_004484.4(GPC3):c.246A>G (p.Gln82=)
|
rs2124634833
|
|
|
NM_004484.4(GPC3):c.248T>G (p.Leu83Arg)
|
|
|
|
NM_004484.4(GPC3):c.249A>C (p.Leu83=)
|
|
|
|
NM_004484.4(GPC3):c.249A>G (p.Leu83=)
|
rs755510528
|
|
|
NM_004484.4(GPC3):c.24G>A (p.Ala8=)
|
|
|
|
NM_004484.4(GPC3):c.251C>T (p.Thr84Ile)
|
rs2076400566
|
|
|
NM_004484.4(GPC3):c.252A>C (p.Thr84=)
|
|
|
|
NM_004484.4(GPC3):c.255A>C (p.Ala85=)
|
|
|
|
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter)
|
rs2076400520
|
|
|
NM_004484.4(GPC3):c.257G>T (p.Arg86Leu)
|
|
|
|
NM_004484.4(GPC3):c.258A>G (p.Arg86=)
|
|
|
|
NM_004484.4(GPC3):c.265A>G (p.Met89Val)
|
rs1569458698
|
|
|
NM_004484.4(GPC3):c.265A>T (p.Met89Leu)
|
rs1569458698
|
|
|
NM_004484.4(GPC3):c.268G>A (p.Glu90Lys)
|
rs866063769
|
|
|
NM_004484.4(GPC3):c.271C>T (p.Gln91Ter)
|
rs2076400400
|
|
|
NM_004484.4(GPC3):c.271del (p.Gln91fs)
|
rs2124634791
|
|
|
NM_004484.4(GPC3):c.276G>C (p.Leu92=)
|
rs2124634777
|
|
|
NM_004484.4(GPC3):c.279T>C (p.Leu93=)
|
rs2124634772
|
|
|
NM_004484.4(GPC3):c.27C>G (p.Cys9Trp)
|
|
|
|
NM_004484.4(GPC3):c.281A>G (p.Gln94Arg)
|
|
|
|
NM_004484.4(GPC3):c.287C>T (p.Ala96Val)
|
|
|
|
NM_004484.4(GPC3):c.289A>G (p.Ser97Gly)
|
rs2124634767
|
|
|
NM_004484.4(GPC3):c.290G>A (p.Ser97Asn)
|
|
|
|
NM_004484.4(GPC3):c.290G>C (p.Ser97Thr)
|
rs2076400276
|
|
|
NM_004484.4(GPC3):c.292A>G (p.Met98Val)
|
|
|
|
NM_004484.4(GPC3):c.300C>T (p.Leu100=)
|
|
|
|
NM_004484.4(GPC3):c.301A>C (p.Lys101Gln)
|
rs766042778
|
|
|
NM_004484.4(GPC3):c.305T>C (p.Phe102Ser)
|
rs1569458691
|
|
|
NM_004484.4(GPC3):c.307T>C (p.Leu103=)
|
|
|
|
NM_004484.4(GPC3):c.309A>G (p.Leu103=)
|
rs2124634737
|
|
|
NM_004484.4(GPC3):c.310A>C (p.Ile104Leu)
|
|
|
|
NM_004484.4(GPC3):c.317A>C (p.Gln106Pro)
|
|
|
|
NM_004484.4(GPC3):c.318G>A (p.Gln106=)
|
|
|
|
NM_004484.4(GPC3):c.326C>A (p.Ala109Glu)
|
rs761660909
|
|
|
NM_004484.4(GPC3):c.326C>T (p.Ala109Val)
|
rs761660909
|
|
|
NM_004484.4(GPC3):c.329T>C (p.Val110Ala)
|
rs2076399979
|
|
|
NM_004484.4(GPC3):c.332del (p.Phe111fs)
|
|
|
|
NM_004484.4(GPC3):c.337+10G>A
|
rs2124634706
|
|
|
NM_004484.4(GPC3):c.337+12G>A
|
rs2124634702
|
|
|
NM_004484.4(GPC3):c.337+13G>A
|
rs1268216012
|
|
|
NM_004484.4(GPC3):c.337+14A>G
|
|
|
|
NM_004484.4(GPC3):c.337+2T>A
|
|
|
|
NM_004484.4(GPC3):c.337+5G>A
|
rs2076399944
|
|
|
NM_004484.4(GPC3):c.337+8C>G
|
rs1556359306
|
|
|
NM_004484.4(GPC3):c.337+9T>C
|
rs866252085
|
|
|
NM_004484.4(GPC3):c.338-20dup
|
rs370737647
|
|
|
NM_004484.4(GPC3):c.338-4A>T
|
rs1490568896
|
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
|
NM_004484.4(GPC3):c.338-6_338-5dup
|
rs370737647
|
|
|
NM_004484.4(GPC3):c.338-7_338-5del
|
rs370737647
|
|
|
NM_004484.4(GPC3):c.341C>A (p.Ala114Asp)
|
rs2071703691
|
|
|
NM_004484.4(GPC3):c.341C>G (p.Ala114Gly)
|
|
|
|
NM_004484.4(GPC3):c.343T>C (p.Phe115Leu)
|
|
|
|
NM_004484.4(GPC3):c.34G>A (p.Val12Met)
|
rs748152935
|
|
|
NM_004484.4(GPC3):c.351T>C (p.Ile117=)
|
rs1603240797
|
|
|
NM_004484.4(GPC3):c.351T>G (p.Ile117Met)
|
rs1603240797
|
|
|
NM_004484.4(GPC3):c.352GTT[1] (p.Val119del)
|
|
|
|
NM_004484.4(GPC3):c.353T>C (p.Val118Ala)
|
rs2124480956
|
|
|
NM_004484.4(GPC3):c.355G>T (p.Val119Phe)
|
rs1060502171
|
|
|
NM_004484.4(GPC3):c.361C>T (p.His121Tyr)
|
rs122453119
|
|
|
NM_004484.4(GPC3):c.37G>C (p.Ala13Pro)
|
rs2124655865
|
|
|
NM_004484.4(GPC3):c.380A>T (p.Asn127Ile)
|
rs2124480910
|
|
|
NM_004484.4(GPC3):c.381T>A (p.Asn127Lys)
|
rs2124480908
|
|
|
NM_004484.4(GPC3):c.382G>A (p.Ala128Thr)
|
|
|
|
NM_004484.4(GPC3):c.383C>A (p.Ala128Asp)
|
|
|
|
NM_004484.4(GPC3):c.384C>A (p.Ala128=)
|
rs761541528
|
|
|
NM_004484.4(GPC3):c.385A>T (p.Met129Leu)
|
rs1004380086
|
|
|
NM_004484.4(GPC3):c.386T>C (p.Met129Thr)
|
|
|
|
NM_004484.4(GPC3):c.388T>A (p.Phe130Ile)
|
rs2071702654
|
|
|
NM_004484.4(GPC3):c.395A>G (p.Asn132Ser)
|
rs2124480870
|
|
|
NM_004484.4(GPC3):c.396C>A (p.Asn132Lys)
|
rs2124480866
|
|
|
NM_004484.4(GPC3):c.399C>T (p.Asn133=)
|
rs2124480857
|
|
|
NM_004484.4(GPC3):c.39G>A (p.Ala13=)
|
|
|
|
NM_004484.4(GPC3):c.401A>G (p.Tyr134Cys)
|
|
|
|
NM_004484.4(GPC3):c.40A>G (p.Met14Val)
|
|
|
|
NM_004484.4(GPC3):c.413C>T (p.Thr138Ile)
|
|
|
|
NM_004484.4(GPC3):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_004484.4(GPC3):c.417A>C (p.Pro139=)
|
rs2071702267
|
|
|
NM_004484.4(GPC3):c.41T>C (p.Met14Thr)
|
|
|
|
NM_004484.4(GPC3):c.420A>G (p.Gln140=)
|
rs2124480838
|
|
|
NM_004484.4(GPC3):c.421G>T (p.Ala141Ser)
|
rs1360346581
|
|
|
NM_004484.4(GPC3):c.422C>A (p.Ala141Asp)
|
rs2124480829
|
|
|
NM_004484.4(GPC3):c.429G>A (p.Glu143=)
|
|
|
|
NM_004484.4(GPC3):c.429G>C (p.Glu143Asp)
|
|
|
|
NM_004484.4(GPC3):c.43C>A (p.Leu15Met)
|
rs1174879539
|
|
|
NM_004484.4(GPC3):c.451G>A (p.Asp151Asn)
|
rs2124480809
|
|
|
NM_004484.4(GPC3):c.451G>C (p.Asp151His)
|
|
|
|
NM_004484.4(GPC3):c.452A>G (p.Asp151Gly)
|
rs2071701855
|
|
|
NM_004484.4(GPC3):c.455T>C (p.Val152Ala)
|
|
|
|
NM_004484.4(GPC3):c.456G>A (p.Val152=)
|
rs1363884283
|
|
|
NM_004484.4(GPC3):c.458C>T (p.Ser153Phe)
|
rs1310073855
|
|
|
NM_004484.4(GPC3):c.45G>C (p.Leu15=)
|
|
|
|
NM_004484.4(GPC3):c.460C>G (p.Leu154Val)
|
|
|
|
NM_004484.4(GPC3):c.460_463dup (p.Tyr155fs)
|
rs2071701505
|
|
|
NM_004484.4(GPC3):c.462C>T (p.Leu154=)
|
|
|
|
NM_004484.4(GPC3):c.465C>T (p.Tyr155=)
|
rs2124480772
|
|
|
NM_004484.4(GPC3):c.46C>T (p.Leu16Phe)
|
rs2124655846
|
|
|
NM_004484.4(GPC3):c.472G>C (p.Gly158Arg)
|
rs2124480744
|
|
|
NM_004484.4(GPC3):c.473G>A (p.Gly158Asp)
|
rs2124480739
|
|
|
NM_004484.4(GPC3):c.479A>G (p.Asp160Gly)
|
|
|
|
NM_004484.4(GPC3):c.485A>T (p.Asn162Ile)
|
|
|
|
NM_004484.4(GPC3):c.486T>C (p.Asn162=)
|
|
|
|
NM_004484.4(GPC3):c.489A>C (p.Val163=)
|
rs2124480706
|
|
|
NM_004484.4(GPC3):c.48C>T (p.Leu16=)
|
|
|
|
NM_004484.4(GPC3):c.491A>G (p.Asp164Gly)
|
rs1569426363
|
|
|
NM_004484.4(GPC3):c.492T>G (p.Asp164Glu)
|
|
|
|
NM_004484.4(GPC3):c.493G>A (p.Asp165Asn)
|
rs2124480689
|
|
|
NM_004484.4(GPC3):c.493G>C (p.Asp165His)
|
rs2124480689
|
|
|
NM_004484.4(GPC3):c.495C>T (p.Asp165=)
|
|
|
|
NM_004484.4(GPC3):c.497T>C (p.Met166Thr)
|
rs2071700722
|
|
|
NM_004484.4(GPC3):c.49A>T (p.Ser17Cys)
|
rs2076563807
|
|
|
NM_004484.4(GPC3):c.49del (p.Ser17fs)
|
|
|
|
NM_004484.4(GPC3):c.500T>C (p.Val167Ala)
|
rs2071700646
|
|
|
NM_004484.4(GPC3):c.502A>G (p.Asn168Asp)
|
rs2071700573
|
|
|
NM_004484.4(GPC3):c.504T>C (p.Asn168=)
|
|
|
|
NM_004484.4(GPC3):c.505G>A (p.Glu169Lys)
|
rs2071700502
|
|
|
NM_004484.4(GPC3):c.507A>G (p.Glu169=)
|
|
|
|
NM_004484.4(GPC3):c.513T>G (p.Phe171Leu)
|
|
|
|
NM_004484.4(GPC3):c.513dup (p.Asp172Ter)
|
rs1603240717
|
|
|
NM_004484.4(GPC3):c.517A>G (p.Ser173Gly)
|
rs2071700126
|
|
|
NM_004484.4(GPC3):c.518G>A (p.Ser173Asn)
|
rs2071700052
|
|
|
NM_004484.4(GPC3):c.520C>A (p.Leu174Met)
|
rs1603240710
|
|
|
NM_004484.4(GPC3):c.520C>G (p.Leu174Val)
|
rs1603240710
|
|
|
NM_004484.4(GPC3):c.522G>A (p.Leu174=)
|
rs2124480642
|
|
|
NM_004484.4(GPC3):c.525T>C (p.Phe175=)
|
rs2124480639
|
|
|
NM_004484.4(GPC3):c.531C>T (p.Val177=)
|
rs1603240705
|
|
|
NM_004484.4(GPC3):c.535T>G (p.Tyr179Asp)
|
|
|
|
NM_004484.4(GPC3):c.539C>T (p.Thr180Ile)
|
|
|
|
NM_004484.4(GPC3):c.53T>C (p.Leu18Ser)
|
rs1011652636
|
|
|
NM_004484.4(GPC3):c.53T>G (p.Leu18Trp)
|
rs1011652636
|
|
|
NM_004484.4(GPC3):c.545T>C (p.Leu182Pro)
|
|
|
|
NM_004484.4(GPC3):c.556G>A (p.Gly186Ser)
|
|
|
|
NM_004484.4(GPC3):c.558C>A (p.Gly186=)
|
rs2124480590
|
|
|
NM_004484.4(GPC3):c.559C>T (p.Leu187=)
|
|
|
|
NM_004484.4(GPC3):c.562C>G (p.Pro188Ala)
|
rs2071699046
|
|
|
NM_004484.4(GPC3):c.565G>A (p.Asp189Asn)
|
rs900143355
|
|
|
NM_004484.4(GPC3):c.565G>C (p.Asp189His)
|
rs900143355
|
|
|
NM_004484.4(GPC3):c.565G>T (p.Asp189Tyr)
|
rs900143355
|
|
|
NM_004484.4(GPC3):c.567T>G (p.Asp189Glu)
|
rs2124480565
|
|
|
NM_004484.4(GPC3):c.571G>A (p.Ala191Thr)
|
rs1603240684
|
|
|
NM_004484.4(GPC3):c.573C>T (p.Ala191=)
|
rs2124480540
|
|
|
NM_004484.4(GPC3):c.576G>C (p.Leu192Phe)
|
rs2071698705
|
|
|
NM_004484.4(GPC3):c.583A>G (p.Asn195Asp)
|
rs2071698474
|
|
|
NM_004484.4(GPC3):c.585T>C (p.Asn195=)
|
rs2124480509
|
|
|
NM_004484.4(GPC3):c.588G>A (p.Glu196=)
|
rs2124480503
|
|
|
NM_004484.4(GPC3):c.592C>T (p.Leu198Phe)
|
rs2124480498
|
|
|
NM_004484.4(GPC3):c.593T>C (p.Leu198Pro)
|
|
|
|
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter)
|
rs104894855
|
|
|
NM_004484.4(GPC3):c.602C>A (p.Ala201Glu)
|
rs201344338
|
|
|
NM_004484.4(GPC3):c.602C>T (p.Ala201Val)
|
rs201344338
|
|
|
NM_004484.4(GPC3):c.605G>C (p.Arg202Thr)
|
|
|
|
NM_004484.4(GPC3):c.606A>G (p.Arg202=)
|
rs1603240654
|
|
|
NM_004484.4(GPC3):c.607del (p.Arg203fs)
|
|
|
|
NM_004484.4(GPC3):c.609T>G (p.Arg203=)
|
|
|
|
NM_004484.4(GPC3):c.60C>T (p.Phe20=)
|
|
|
|
NM_004484.4(GPC3):c.612C>A (p.Asp204Glu)
|
rs2071697475
|
|
|
NM_004484.4(GPC3):c.61C>A (p.Pro21Thr)
|
rs2076563698
|
|
|
NM_004484.4(GPC3):c.624T>C (p.Phe208=)
|
rs140848049
|
|
|
NM_004484.4(GPC3):c.629_654delinsCTTGCA (p.Asn210fs)
|
rs1556297749
|
|
|
NM_004484.4(GPC3):c.633C>T (p.Phe211=)
|
rs2071696918
|
|
|
NM_004484.4(GPC3):c.634C>T (p.Pro212Ser)
|
|
|
|
NM_004484.4(GPC3):c.63G>A (p.Pro21=)
|
rs2076563636
|
|
|
NM_004484.4(GPC3):c.63G>T (p.Pro21=)
|
rs2076563636
|
|
|
NM_004484.4(GPC3):c.643A>G (p.Ile215Val)
|
|
|
|
NM_004484.4(GPC3):c.644T>C (p.Ile215Thr)
|
|
|
|
NM_004484.4(GPC3):c.646A>G (p.Met216Val)
|
rs1556297755
|
|
|
NM_004484.4(GPC3):c.648G>A (p.Met216Ile)
|
|
|
|
NM_004484.4(GPC3):c.650C>T (p.Thr217Ile)
|
rs2124480389
|
|
|
NM_004484.4(GPC3):c.651C>T (p.Thr217=)
|
|
|
|
NM_004484.4(GPC3):c.652C>A (p.Gln218Lys)
|
|
|
|
NM_004484.4(GPC3):c.658T>C (p.Ser220Pro)
|
|
|
|
NM_004484.4(GPC3):c.662del (p.Lys221fs)
|
rs2124480362
|
|
|
NM_004484.4(GPC3):c.66A>G (p.Gly22=)
|
rs2124655806
|
|
|
NM_004484.4(GPC3):c.671A>G (p.Gln224Arg)
|
|
|
|
NM_004484.4(GPC3):c.674T>G (p.Val225Gly)
|
|
|
|
NM_004484.4(GPC3):c.67C>G (p.Gln23Glu)
|
|
|
|
NM_004484.4(GPC3):c.682A>G (p.Ile228Val)
|
|
|
|
NM_004484.4(GPC3):c.682A>T (p.Ile228Phe)
|
rs774682860
|
|
|
NM_004484.4(GPC3):c.687C>T (p.Phe229=)
|
rs2124480310
|
|
|
NM_004484.4(GPC3):c.68A>G (p.Gln23Arg)
|
rs866488565
|
|
|
NM_004484.4(GPC3):c.691C>G (p.Gln231Glu)
|
|
|
|
NM_004484.4(GPC3):c.695C>T (p.Ala232Val)
|
rs1206002281
|
|
|
NM_004484.4(GPC3):c.697C>G (p.Leu233Val)
|
|
|
|
NM_004484.4(GPC3):c.701A>G (p.Asn234Ser)
|
|
|
|
NM_004484.4(GPC3):c.710T>C (p.Ile237Thr)
|
|
|
|
NM_004484.4(GPC3):c.715G>A (p.Val239Met)
|
|
|
|
NM_004484.4(GPC3):c.717G>A (p.Val239=)
|
rs2124480274
|
|
|
NM_004484.4(GPC3):c.719T>A (p.Ile240Asn)
|
|
|
|
NM_004484.4(GPC3):c.71C>T (p.Ala24Val)
|
rs1569462740
|
|
|
NM_004484.4(GPC3):c.720C>T (p.Ile240=)
|
rs1463771487
|
|
|
NM_004484.4(GPC3):c.722A>G (p.Asn241Ser)
|
rs1603240573
|
|
|
NM_004484.4(GPC3):c.72G>A (p.Ala24=)
|
rs1281815760
|
|
|
NM_004484.4(GPC3):c.737T>C (p.Leu246Pro)
|
rs2071694723
|
|
|
NM_004484.4(GPC3):c.737_738delinsCT (p.Leu246Pro)
|
rs1603240567
|
|
|
NM_004484.4(GPC3):c.743T>C (p.Phe248Ser)
|
|
|
|
NM_004484.4(GPC3):c.746G>A (p.Ser249Asn)
|
rs2124480231
|
|
|
NM_004484.4(GPC3):c.750G>A (p.Lys250=)
|
|
|
|
NM_004484.4(GPC3):c.752A>T (p.Asp251Val)
|
|
|
|
NM_004484.4(GPC3):c.755G>T (p.Cys252Phe)
|
rs2071694353
|
|
|
NM_004484.4(GPC3):c.757G>A (p.Gly253Ser)
|
rs2124480212
|
|
|
NM_004484.4(GPC3):c.75G>T (p.Gln25His)
|
rs2076563500
|
|
|
NM_004484.4(GPC3):c.760C>T (p.Arg254Ter)
|
rs752194694
|
|
|
NM_004484.4(GPC3):c.761G>A (p.Arg254Gln)
|
rs756844729
|
|
|
NM_004484.4(GPC3):c.761G>T (p.Arg254Leu)
|
rs756844729
|
|
|
NM_004484.4(GPC3):c.762A>G (p.Arg254=)
|
rs934493521
|
|
|
NM_004484.4(GPC3):c.769A>T (p.Thr257Ser)
|
|
|
|
NM_004484.4(GPC3):c.76C>T (p.Pro26Ser)
|
rs1569462736
|
|
|
NM_004484.4(GPC3):c.773G>A (p.Arg258Lys)
|
|
|
|
NM_004484.4(GPC3):c.779G>C (p.Trp260Ser)
|
|
|
|
NM_004484.4(GPC3):c.785G>A (p.Cys262Tyr)
|
rs2071693746
|
|
|
NM_004484.4(GPC3):c.786C>T (p.Cys262=)
|
|
|
|
NM_004484.4(GPC3):c.788C>G (p.Ser263Cys)
|
rs1060502170
|
|
|
NM_004484.4(GPC3):c.78_83del (p.Pro30_Pro31del)
|
rs2124655769
|
|
|
NM_004484.4(GPC3):c.78_86dup (p.Pro29_Pro31dup)
|
rs2076563342
|
|
|
NM_004484.4(GPC3):c.790T>A (p.Tyr264Asn)
|
|
|
|
NM_004484.4(GPC3):c.792C>T (p.Tyr264=)
|
rs2124480140
|
|
|
NM_004484.4(GPC3):c.79CCG[3] (p.Pro30_Pro31del)
|
rs749104500
|
|
|
NM_004484.4(GPC3):c.79CCG[4] (p.Pro31del)
|
|
|
|
NM_004484.4(GPC3):c.79CCG[6] (p.Pro31dup)
|
rs749104500
|
|
|
NM_004484.4(GPC3):c.79CCG[7] (p.Pro31_Asp32insProPro)
|
|
|
|
NM_004484.4(GPC3):c.7G>C (p.Gly3Arg)
|
|
|
|
NM_004484.4(GPC3):c.801A>T (p.Gly267=)
|
|
|
|
NM_004484.4(GPC3):c.805A>T (p.Met269Leu)
|
rs1556297682
|
|
|
NM_004484.4(GPC3):c.80C>T (p.Pro27Leu)
|
rs1556367809
|
|
|
NM_004484.4(GPC3):c.80dup (p.Pro28fs)
|
rs1602581162
|
|
|
NM_004484.4(GPC3):c.811G>T (p.Val271Phe)
|
|
|
|
NM_004484.4(GPC3):c.813T>C (p.Val271=)
|
|
|
|
NM_004484.4(GPC3):c.823G>A (p.Gly275Ser)
|
rs2124480115
|
|
|
NM_004484.4(GPC3):c.826G>T (p.Gly276Cys)
|
rs141100113
|
|
|
NM_004484.4(GPC3):c.832T>C (p.Cys278Arg)
|
rs1556297671
|
|
|
NM_004484.4(GPC3):c.833G>A (p.Cys278Tyr)
|
rs2071692820
|
|
|
NM_004484.4(GPC3):c.838G>A (p.Val280Met)
|
rs1556297668
|
|
|
NM_004484.4(GPC3):c.839T>A (p.Val280Glu)
|
rs764111452
|
|
|
NM_004484.4(GPC3):c.839T>C (p.Val280Ala)
|
|
|
|
NM_004484.4(GPC3):c.83C>T (p.Pro28Leu)
|
|
|
|
NM_004484.4(GPC3):c.840G>A (p.Val280=)
|
rs2071692419
|
|
|
NM_004484.4(GPC3):c.840G>C (p.Val280=)
|
rs2071692419
|
|
|
NM_004484.4(GPC3):c.840G>T (p.Val280=)
|
|
|
|
NM_004484.4(GPC3):c.849A>G (p.Gln283=)
|
|
|
|
NM_004484.4(GPC3):c.850G>A (p.Gly284Ser)
|
rs2071692255
|
|
|
NM_004484.4(GPC3):c.851G>C (p.Gly284Ala)
|
rs2071692187
|
|
|
NM_004484.4(GPC3):c.852C>T (p.Gly284=)
|
rs1603240522
|
|
|
NM_004484.4(GPC3):c.862G>A (p.Gly288Ser)
|
rs2124480046
|
|
|
NM_004484.4(GPC3):c.869T>C (p.Val290Ala)
|
rs1244073847
|
|
|
NM_004484.4(GPC3):c.86C>T (p.Pro29Leu)
|
|
|
|
NM_004484.4(GPC3):c.873G>A (p.Glu291=)
|
rs2124480012
|
|
|
NM_004484.4(GPC3):c.876T>G (p.Ile292Met)
|
rs61754633
|
|
|
NM_004484.4(GPC3):c.879C>T (p.Asp293=)
|
rs2124479990
|
|
|
NM_004484.4(GPC3):c.880A>G (p.Lys294Glu)
|
rs1294158180
|
|
|
NM_004484.4(GPC3):c.882G>A (p.Lys294=)
|
rs2124479973
|
|
|
NM_004484.4(GPC3):c.882G>T (p.Lys294Asn)
|
|
|
|
NM_004484.4(GPC3):c.885C>A (p.Tyr295Ter)
|
rs2124479966
|
|
|
NM_004484.4(GPC3):c.88C>T (p.Pro30Ser)
|
|
|
|
NM_004484.4(GPC3):c.890G>A (p.Arg297Lys)
|
rs2071690867
|
|
|
NM_004484.4(GPC3):c.892G>C (p.Glu298Gln)
|
rs2124479949
|
|
|
NM_004484.4(GPC3):c.892G>T (p.Glu298Ter)
|
rs2124479949
|
|
|
NM_004484.4(GPC3):c.895T>C (p.Tyr299His)
|
|
|
|
NM_004484.4(GPC3):c.896A>C (p.Tyr299Ser)
|
|
|
|
NM_004484.4(GPC3):c.896A>G (p.Tyr299Cys)
|
rs2071690786
|
|
|
NM_004484.4(GPC3):c.901C>A (p.Leu301Met)
|
|
|
|
NM_004484.4(GPC3):c.906C>G (p.Ser302=)
|
rs747860984
|
|
|
NM_004484.4(GPC3):c.907C>G (p.Leu303Val)
|
rs2071690519
|
|
|
NM_004484.4(GPC3):c.909T>C (p.Leu303=)
|
|
|
|
NM_004484.4(GPC3):c.90G>A (p.Pro30=)
|
rs2124655746
|
|
|
NM_004484.4(GPC3):c.90_91insACG (p.Pro30_Pro31insThr)
|
rs1210386432
|
|
|
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys)
|
rs903266102
|
|
|
NM_004484.4(GPC3):c.914A>C (p.Glu305Ala)
|
|
|
|
NM_004484.4(GPC3):c.918T>G (p.Leu306=)
|
rs753655328
|
|
|
NM_004484.4(GPC3):c.919G>T (p.Val307Leu)
|
|
|
|
NM_004484.4(GPC3):c.923A>G (p.Asn308Ser)
|
|
|
|
NM_004484.4(GPC3):c.925G>A (p.Gly309Ser)
|
|
|
|
NM_004484.4(GPC3):c.92C>T (p.Pro31Leu)
|
rs1602581126
|
|
|
NM_004484.4(GPC3):c.937A>G (p.Ile313Val)
|
|
|
|
NM_004484.4(GPC3):c.938T>A (p.Ile313Asn)
|
|
|
|
NM_004484.4(GPC3):c.940T>A (p.Tyr314Asn)
|
rs2124479870
|
|
|
NM_004484.4(GPC3):c.941A>G (p.Tyr314Cys)
|
rs1569426081
|
|
|
NM_004484.4(GPC3):c.942T>C (p.Tyr314=)
|
rs1603240471
|
|
|
NM_004484.4(GPC3):c.943G>T (p.Asp315Tyr)
|
rs2124479854
|
|
|
NM_004484.4(GPC3):c.945C>G (p.Asp315Glu)
|
rs1027587308
|
|
|
NM_004484.4(GPC3):c.94G>A (p.Asp32Asn)
|
|
|
|
NM_004484.4(GPC3):c.958C>T (p.Leu320=)
|
rs372222280
|
|
|
NM_004484.4(GPC3):c.960G>C (p.Leu320=)
|
rs1446548510
|
|
|
NM_004484.4(GPC3):c.960G>T (p.Leu320=)
|
rs1446548510
|
|
|
NM_004484.4(GPC3):c.964G>C (p.Gly322Arg)
|
|
|
|
NM_004484.4(GPC3):c.969C>T (p.Leu323=)
|
rs11539788
|
|
|
NM_004484.4(GPC3):c.976A>T (p.Thr326Ser)
|
|
|
|
NM_004484.4(GPC3):c.977C>T (p.Thr326Ile)
|
rs900270133
|
|
|
NM_004484.4(GPC3):c.978A>C (p.Thr326=)
|
rs2124479792
|
|
|
NM_004484.4(GPC3):c.97G>A (p.Ala33Thr)
|
|
|
|
NM_004484.4(GPC3):c.97G>T (p.Ala33Ser)
|
rs2124655722
|
|
|
NM_004484.4(GPC3):c.982C>T (p.His328Tyr)
|
|
|
|
NM_004484.4(GPC3):c.984T>C (p.His328=)
|
|
|
|
NM_004484.4(GPC3):c.985G>T (p.Asp329Tyr)
|
|
|
|
NM_004484.4(GPC3):c.986A>G (p.Asp329Gly)
|
rs1199305584
|
|
|
NM_004484.4(GPC3):c.989C>T (p.Ser330Phe)
|
|
|
|
NM_004484.4(GPC3):c.98C>T (p.Ala33Val)
|
rs2076563148
|
|
|
NM_004484.4(GPC3):c.990T>C (p.Ser330=)
|
rs2124479772
|
|
|
NM_004484.4(GPC3):c.997T>G (p.Tyr333Asp)
|
|
|
|
NM_005120.3(MED12):c.131G>A (p.Gly44Asp)
|
rs199469672
|
|
|
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
|
|
|
|
NM_005612.5(REST):c.1255A>G (p.Thr419Ala)
|
|
|
|
NM_005612.5(REST):c.1298G>A (p.Arg433Gln)
|
|
|
|
NM_005612.5(REST):c.1309T>A (p.Leu437Met)
|
|
|
|
NM_005612.5(REST):c.1313C>A (p.Pro438His)
|
|
|
|
NM_005612.5(REST):c.1367A>G (p.Asp456Gly)
|
|
|
|
NM_005612.5(REST):c.1435C>T (p.Pro479Ser)
|
|
|
|
NM_005612.5(REST):c.1436C>T (p.Pro479Leu)
|
|
|
|
NM_005612.5(REST):c.1583A>G (p.His528Arg)
|
|
|
|
NM_005612.5(REST):c.1690A>C (p.Lys564Gln)
|
|
|
|
NM_005612.5(REST):c.1701G>C (p.Glu567Asp)
|
|
|
|
NM_005612.5(REST):c.1881G>T (p.Gln627His)
|
rs1720922537
|
|
|
NM_005612.5(REST):c.1882G>A (p.Val628Met)
|
|
|
|
NM_005612.5(REST):c.1919A>T (p.Glu640Val)
|
|
|
|
NM_005612.5(REST):c.2032G>T (p.Ala678Ser)
|
rs367688230
|
|
|
NM_005612.5(REST):c.2050C>G (p.His684Asp)
|
rs1720935811
|
|
|
NM_005612.5(REST):c.2053A>G (p.Met685Val)
|
|
|
|
NM_005612.5(REST):c.2063C>G (p.Pro688Arg)
|
|
|
|
NM_005612.5(REST):c.2076_2120del (p.Thr693_Glu707del)
|
|
|
|
NM_005612.5(REST):c.2093T>C (p.Val698Ala)
|
|
|
|
NM_005612.5(REST):c.2259_2306del (p.Met753_Pro768del)
|
rs369803397
|
|
|
NM_005612.5(REST):c.2307A>G (p.Ile769Met)
|
rs766485057
|
|
|
NM_005612.5(REST):c.2314G>A (p.Val772Ile)
|
|
|
|
NM_005612.5(REST):c.2741A>G (p.Asn914Ser)
|
|
|
|
NM_005612.5(REST):c.2743G>C (p.Glu915Gln)
|
|
|
|
NM_005612.5(REST):c.2753A>G (p.His918Arg)
|
|
|
|
NM_005612.5(REST):c.2936_2938del (p.Val979del)
|
|
|
|
NM_005612.5(REST):c.2945G>A (p.Arg982His)
|
|
|
|
NM_005612.5(REST):c.2992G>A (p.Ala998Thr)
|
rs1720989281
|
|
|
NM_005612.5(REST):c.3098A>G (p.His1033Arg)
|
rs572949989
|
|
|
NM_005612.5(REST):c.3107G>T (p.Arg1036Leu)
|
|
|
|
NM_005612.5(REST):c.3140C>G (p.Ala1047Gly)
|
|
|
|
NM_005612.5(REST):c.3239A>G (p.Asn1080Ser)
|
|
|
|
NM_005612.5(REST):c.412A>G (p.Lys138Glu)
|
|
|
|
NM_005612.5(REST):c.439G>A (p.Ala147Thr)
|
|
|
|
NM_005612.5(REST):c.458G>A (p.Ser153Asn)
|
|
|
|
NM_005612.5(REST):c.461C>T (p.Ser154Leu)
|
|
|
|
NM_005612.5(REST):c.608C>G (p.Ser203Cys)
|
|
|
|
NM_005612.5(REST):c.657C>G (p.Asp219Glu)
|
|
|
|
NM_005612.5(REST):c.737G>A (p.Arg246Gln)
|
|
|
|
NM_005612.5(REST):c.773_776del (p.Val258fs)
|
rs869025311
|
|
|
NM_005762.3(TRIM28):c.1101+8_1101+9dup
|
|
|
|
NM_005762.3(TRIM28):c.1610C>T (p.Ala537Val)
|
|
|
|
NM_005762.3(TRIM28):c.161G>T (p.Gly54Val)
|
|
|
|
NM_005762.3(TRIM28):c.2060C>G (p.Ala687Gly)
|
|
|
|
NM_005762.3(TRIM28):c.2101C>T (p.Gln701Ter)
|
rs2053798835
|
|
|
NM_005762.3(TRIM28):c.2300G>A (p.Arg767His)
|
|
|
|
NM_005762.3(TRIM28):c.2383C>T (p.Arg795Cys)
|
|
|
|
NM_005762.3(TRIM28):c.2394G>T (p.Glu798Asp)
|
|
|
|
NM_005762.3(TRIM28):c.404T>C (p.Met135Thr)
|
|
|
|
NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)
|
|
|
|
NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met)
|
rs1553152166
|
|
|
NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg)
|
rs1553153748
|
|
|
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter)
|
rs1376427129
|
|
|
NM_006180.6(NTRK2):c.970T>A (p.Leu324Met)
|
rs201362502
|
|
|
NM_006565.4(CTCF):c.610dup (p.Thr204fs)
|
rs886041997
|
|
|
NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs)
|
rs1555913934
|
|
|
NM_007363.5(NONO):c.731dup (p.Asn244fs)
|
rs1555950011
|
|
|
NM_016169.3(SUFU):c.-189C>T
|
rs1589969363
|
|
|
NM_016169.3(SUFU):c.-202C>T
|
rs1222242003
|
|
|
NM_016169.4(SUFU):c.*1104C>T
|
rs886046657
|
|
|
NM_016169.4(SUFU):c.*131C>G
|
rs886046654
|
|
|
NM_016169.4(SUFU):c.*1389C>T
|
rs886046658
|
|
|
NM_016169.4(SUFU):c.*138C>T
|
rs2063826618
|
|
|
NM_016169.4(SUFU):c.*1690A>G
|
rs955282121
|
|
|
NM_016169.4(SUFU):c.*1720C>G
|
rs536068954
|
|
|
NM_016169.4(SUFU):c.*1785C>T
|
rs1047091410
|
|
|
NM_016169.4(SUFU):c.*1889C>T
|
rs139020703
|
|
|
NM_016169.4(SUFU):c.*2150G>A
|
rs561461171
|
|
|
NM_016169.4(SUFU):c.*2479C>T
|
rs2063847339
|
|
|
NM_016169.4(SUFU):c.*2553T>C
|
rs886046662
|
|
|
NM_016169.4(SUFU):c.*2657T>C
|
rs2063848688
|
|
|
NM_016169.4(SUFU):c.*2757G>A
|
rs758662176
|
|
|
NM_016169.4(SUFU):c.*3110C>T
|
rs141940845
|
|
|
NM_016169.4(SUFU):c.*3239C>G
|
rs538132960
|
|
|
NM_016169.4(SUFU):c.*3239_*3241del
|
rs767259911
|
|
|
NM_016169.4(SUFU):c.*352C>G
|
rs139725961
|
|
|
NM_016169.4(SUFU):c.*742G>A
|
rs142145337
|
|
|
NM_016169.4(SUFU):c.-103C>A
|
rs886046653
|
|
|
NM_016169.4(SUFU):c.-163A>G
|
rs886046652
|
|
|
NM_016169.4(SUFU):c.-181A>G
|
rs867202826
|
|
|
NM_016169.4(SUFU):c.-81C>A
|
rs546107381
|
|
|
NM_016169.4(SUFU):c.-81C>T
|
rs546107381
|
|
|
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
|
|
|
|
NM_016169.4(SUFU):c.1002C>T (p.Gly334=)
|
|
|
|
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro)
|
rs2063496437
|
|
|
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
|
|
|
|
NM_016169.4(SUFU):c.1009del (p.His337fs)
|
rs869300423
|
|
|
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn)
|
rs145082320
|
|
|
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
|
|
|
|
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr)
|
rs145082320
|
|
|
NM_016169.4(SUFU):c.1013_1016dup (p.Ala340fs)
|
|
|
|
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro)
|
rs369910221
|
|
|
NM_016169.4(SUFU):c.1017G>A (p.Arg339=)
|
rs2063496731
|
|
|
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
|
|
|
|
NM_016169.4(SUFU):c.1018del (p.Ala340fs)
|
rs2135889203
|
|
|
NM_016169.4(SUFU):c.1019C>T (p.Ala340Val)
|
|
|
|
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala)
|
rs2063496822
|
|
|
NM_016169.4(SUFU):c.1022+10C>T
|
|
|
|
NM_016169.4(SUFU):c.1022+12A>C
|
|
|
|
NM_016169.4(SUFU):c.1022+15G>A
|
|
|
|
NM_016169.4(SUFU):c.1022+1G>A
|
rs587776578
|
|
|
NM_016169.4(SUFU):c.1022+20del
|
rs1265431746
|
|
|
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
|
|
|
|
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
|
|
|
|
NM_016169.4(SUFU):c.1023-12C>T
|
|
|
|
NM_016169.4(SUFU):c.1023-14T>C
|
|
|
|
NM_016169.4(SUFU):c.1023-15G>A
|
|
|
|
NM_016169.4(SUFU):c.1023-18C>G
|
|
|
|
NM_016169.4(SUFU):c.1023-18C>T
|
rs892399500
|
|
|
NM_016169.4(SUFU):c.1023-19T>C
|
|
|
|
NM_016169.4(SUFU):c.1023-2A>T
|
rs1060501105
|
|
|
NM_016169.4(SUFU):c.1023-3C>T
|
rs550262133
|
|
|
NM_016169.4(SUFU):c.1023-6T>C
|
rs2063672832
|
|
|
NM_016169.4(SUFU):c.1023-8C>T
|
rs1554854552
|
|
|
NM_016169.4(SUFU):c.1023-9G>C
|
rs1590082088
|
|
|
NM_016169.4(SUFU):c.1023G>A (p.Pro341=)
|
rs2135929726
|
|
|
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile)
|
|
|
|
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
|
|
|
|
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
|
|
|
|
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)
|
rs79299301
|
|
|
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
|
|
|
|
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly)
|
rs1590082122
|
|
|
NM_016169.4(SUFU):c.1035C>T (p.Asp345=)
|
|
|
|
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
|
|
|
|
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
|
|
|
|
NM_016169.4(SUFU):c.1041G>C (p.Leu347=)
|
|
|
|
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys)
|
rs1447671524
|
|
|
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr)
|
rs1419645738
|
|
|
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
|
|
|
|
NM_016169.4(SUFU):c.104A>G (p.His35Arg)
|
rs2062292023
|
|
|
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
|
|
|
|
NM_016169.4(SUFU):c.1056C>A (p.Ser352=)
|
rs1590082153
|
|
|
NM_016169.4(SUFU):c.1056C>T (p.Ser352=)
|
rs1590082153
|
|
|
NM_016169.4(SUFU):c.1057A>T (p.Thr353Ser)
|
rs1043574191
|
|
|
NM_016169.4(SUFU):c.1059G>T (p.Thr353=)
|
|
|
|
NM_016169.4(SUFU):c.105C>G (p.His35Gln)
|
|
|
|
NM_016169.4(SUFU):c.105C>T (p.His35=)
|
|
|
|
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr)
|
rs1554854570
|
|
|
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly)
|
rs1554854572
|
|
|
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val)
|
rs1564706425
|
|
|
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe)
|
rs1564706425
|
|
|
NM_016169.4(SUFU):c.1065C>A (p.Ile355=)
|
|
|
|
NM_016169.4(SUFU):c.1068T>A (p.Ile356=)
|
|
|
|
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met)
|
rs2063673886
|
|
|
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
|
|
|
|
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
|
|
|
|
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
|
|
|
|
NM_016169.4(SUFU):c.1071C>T (p.Pro357=)
|
rs1590082185
|
|
|
NM_016169.4(SUFU):c.1072_1074del (p.His358del)
|
|
|
|
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
|
|
|
|
NM_016169.4(SUFU):c.1077G>A (p.Glu359=)
|
rs1590082194
|
|
|
NM_016169.4(SUFU):c.1077del (p.Glu359fs)
|
rs2135930082
|
|
|
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
|
|
|
|
NM_016169.4(SUFU):c.107C>G (p.Ala36Gly)
|
|
|
|
NM_016169.4(SUFU):c.1082T>A (p.Ile361Asn)
|
|
|
|
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met)
|
rs1590082200
|
|
|
NM_016169.4(SUFU):c.1085G>C (p.Arg362Pro)
|
|
|
|
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu)
|
rs755390277
|
|
|
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala)
|
rs2135930147
|
|
|
NM_016169.4(SUFU):c.1090C>A (p.Arg364=)
|
rs1305395503
|
|
|
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)
|
rs1305395503
|
|
|
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
|
|
|
|
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro)
|
rs2063674539
|
|
|
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg)
|
rs746580970
|
|
|
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu)
|
rs149449923
|
|
|
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala)
|
rs1554854584
|
|
|
NM_016169.4(SUFU):c.111C>T (p.Ile37=)
|
|
|
|
NM_016169.4(SUFU):c.111del (p.Tyr38fs)
|
rs863224925
|
|
|
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp)
|
rs2063674917
|
|
|
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr)
|
rs1265012285
|
|
|
NM_016169.4(SUFU):c.1122C>T (p.Asn374=)
|
rs1590082264
|
|
|
NM_016169.4(SUFU):c.1123del (p.Gln375fs)
|
rs2135930329
|
|
|
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
|
|
|
|
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
|
|
|
|
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg)
|
rs1256959985
|
|
|
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
|
|
|
|
NM_016169.4(SUFU):c.1134A>G (p.Gly378=)
|
|
|
|
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
|
|
|
|
NM_016169.4(SUFU):c.1139T>A (p.Leu380His)
|
rs2063675268
|
|
|
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys)
|
rs2062292284
|
|
|
NM_016169.4(SUFU):c.1140C>G (p.Leu380=)
|
|
|
|
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
|
|
|
|
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr)
|
rs2135930458
|
|
|
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
|
|
|
|
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu)
|
rs1401882800
|
|
|
NM_016169.4(SUFU):c.1146T>C (p.Pro382=)
|
rs1159204850
|
|
|
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
|
|
|
|
NM_016169.4(SUFU):c.1148T>A (p.Leu383His)
|
|
|
|
NM_016169.4(SUFU):c.1149C>T (p.Leu383=)
|
|
|
|
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg)
|
rs375419295
|
|
|
NM_016169.4(SUFU):c.1152C>T (p.Cys384=)
|
rs1590082342
|
|
|
NM_016169.4(SUFU):c.1155A>G (p.Leu385=)
|
|
|
|
NM_016169.4(SUFU):c.1157+11C>T
|
|
|
|
NM_016169.4(SUFU):c.1157+11_1157+12del
|
|
|
|
NM_016169.4(SUFU):c.1157+13del
|
|
|
|
NM_016169.4(SUFU):c.1157+14C>T
|
rs2063675828
|
|
|
NM_016169.4(SUFU):c.1157+16C>G
|
|
|
|
NM_016169.4(SUFU):c.1157+17T>G
|
rs2135930605
|
|
|
NM_016169.4(SUFU):c.1157+1G>A
|
|
|
|
NM_016169.4(SUFU):c.1157+20CA[4]
|
|
|
|
NM_016169.4(SUFU):c.1157+7G>C
|
rs371548374
|
|
|
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
|
|
|
|
NM_016169.4(SUFU):c.1158-10C>T
|
rs904045520
|
|
|
NM_016169.4(SUFU):c.1158-10_1158-9insT
|
rs2135934819
|
|
|
NM_016169.4(SUFU):c.1158-11C>T
|
rs2135934809
|
|
|
NM_016169.4(SUFU):c.1158-13T>A
|
|
|
|
NM_016169.4(SUFU):c.1158-13T>C
|
|
|
|
NM_016169.4(SUFU):c.1158-13T>G
|
|
|
|
NM_016169.4(SUFU):c.1158-15T>C
|
rs998644443
|
|
|
NM_016169.4(SUFU):c.1158-18C>G
|
rs2135934793
|
|
|
NM_016169.4(SUFU):c.1158-18_1158-15dup
|
rs2063696440
|
|
|
NM_016169.4(SUFU):c.1158-3C>T
|
rs936830108
|
|
|
NM_016169.4(SUFU):c.1158-4C>T
|
rs768603330
|
|
|
NM_016169.4(SUFU):c.1158-8_1158-7insCTG
|
rs2135934830
|
|
|
NM_016169.4(SUFU):c.1158-9C>T
|
|
|
|
NM_016169.4(SUFU):c.1158G>A (p.Arg386=)
|
rs773979098
|
|
|
NM_016169.4(SUFU):c.1159G>A (p.Gly387Ser)
|
|
|
|
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
|
|
|
|
NM_016169.4(SUFU):c.1167C>G (p.Leu389=)
|
|
|
|
NM_016169.4(SUFU):c.1167C>T (p.Leu389=)
|
|
|
|
NM_016169.4(SUFU):c.116G>T (p.Gly39Val)
|
rs756123785
|
|
|
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
|
|
|
|
NM_016169.4(SUFU):c.1172A>G (p.His391Arg)
|
rs2063696863
|
|
|
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg)
|
rs2063696912
|
|
|
NM_016169.4(SUFU):c.1174_1175dup (p.Arg393fs)
|
rs1564707343
|
|
|
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
|
|
|
|
NM_016169.4(SUFU):c.1179G>A (p.Arg393=)
|
|
|
|
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
|
|
|
|
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
|
|
|
|
NM_016169.4(SUFU):c.1185T>C (p.Phe395=)
|
rs760982248
|
|
|
NM_016169.4(SUFU):c.118G>A (p.Glu40Lys)
|
rs2135598310
|
|
|
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
|
|
|
|
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn)
|
rs1421345157
|
|
|
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr)
|
rs1421345157
|
|
|
NM_016169.4(SUFU):c.1198A>G (p.Ile400Val)
|
|
|
|
NM_016169.4(SUFU):c.1199T>C (p.Ile400Thr)
|
|
|
|
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
|
|
|
|
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
|
|
|
|
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile)
|
rs776868943
|
|
|
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp)
|
rs2063697237
|
|
|
NM_016169.4(SUFU):c.120G>A (p.Glu40=)
|
|
|
|
NM_016169.4(SUFU):c.120G>T (p.Glu40Asp)
|
|
|
|
NM_016169.4(SUFU):c.1210A>G (p.Met404Val)
|
rs1312190379
|
|
|
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys)
|
rs2063697367
|
|
|
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
|
|
|
|
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
|
|
|
|
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val)
|
rs1060501116
|
|
|
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
|
|
|
|
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
|
|
|
|
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
|
|
|
|
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
|
|
|
|
NM_016169.4(SUFU):c.1233G>C (p.Thr411=)
|
|
|
|
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu)
|
rs1590084228
|
|
|
NM_016169.4(SUFU):c.1239G>A (p.Val413=)
|
|
|
|
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp)
|
rs2135935261
|
|
|
NM_016169.4(SUFU):c.1244G>T (p.Gly415Val)
|
|
|
|
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr)
|
rs779490664
|
|
|
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser)
|
rs779490664
|
|
|
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
|
|
|
|
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp)
|
rs2063698018
|
|
|
NM_016169.4(SUFU):c.1248C>T (p.Ala416=)
|
|
|
|
NM_016169.4(SUFU):c.124dup (p.Arg42fs)
|
rs2062292476
|
|
|
NM_016169.4(SUFU):c.1250T>C (p.Phe417Ser)
|
|
|
|
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro)
|
rs2063698088
|
|
|
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
|
|
|
|
NM_016169.4(SUFU):c.1254C>A (p.Ala418=)
|
rs1554854775
|
|
|
NM_016169.4(SUFU):c.1254C>T (p.Ala418=)
|
rs1554854775
|
|
|
NM_016169.4(SUFU):c.1263G>A (p.Glu421=)
|
|
|
|
NM_016169.4(SUFU):c.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
|
|
|
|
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg)
|
rs1590084270
|
|
|
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
|
|
|
|
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val)
|
rs1427876079
|
|
|
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr)
|
rs1189930416
|
|
|
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val)
|
rs772895878
|
|
|
NM_016169.4(SUFU):c.1281T>C (p.His427=)
|
|
|
|
NM_016169.4(SUFU):c.1282G>A (p.Gly428Arg)
|
|
|
|
NM_016169.4(SUFU):c.1284A>G (p.Gly428=)
|
rs2135935488
|
|
|
NM_016169.4(SUFU):c.1287C>G (p.Pro429=)
|
rs2135935515
|
|
|
NM_016169.4(SUFU):c.1287C>T (p.Pro429=)
|
|
|
|
NM_016169.4(SUFU):c.1291T>G (p.Leu431Val)
|
rs141950577
|
|
|
NM_016169.4(SUFU):c.1293A>G (p.Leu431=)
|
rs2135935555
|
|
|
NM_016169.4(SUFU):c.1294C>T (p.Gln432Ter)
|
|
|
|
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
|
|
|
|
NM_016169.4(SUFU):c.1296+10C>A
|
|
|
|
NM_016169.4(SUFU):c.1296+10C>T
|
|
|
|
NM_016169.4(SUFU):c.1296+13_1296+91del
|
|
|
|
NM_016169.4(SUFU):c.1296+14T>A
|
|
|
|
NM_016169.4(SUFU):c.1296+14T>G
|
rs1489647547
|
|
|
NM_016169.4(SUFU):c.1296+18C>A
|
|
|
|
NM_016169.4(SUFU):c.1296+18C>T
|
|
|
|
NM_016169.4(SUFU):c.1296+18dup
|
|
|
|
NM_016169.4(SUFU):c.1296+3G>A
|
rs2135935586
|
|
|
NM_016169.4(SUFU):c.1296+4_1296+459del
|
rs2063698594
|
|
|
NM_016169.4(SUFU):c.1296+5G>A
|
|
|
|
NM_016169.4(SUFU):c.1297-12G>A
|
|
|
|
NM_016169.4(SUFU):c.1297-15C>T
|
|
|
|
NM_016169.4(SUFU):c.1297-19C>G
|
|
|
|
NM_016169.4(SUFU):c.1297-20C>A
|
|
|
|
NM_016169.4(SUFU):c.1297-5C>T
|
rs1275187815
|
|
|
NM_016169.4(SUFU):c.1297-7T>C
|
|
|
|
NM_016169.4(SUFU):c.129C>G (p.Arg43=)
|
rs1453485604
|
|
|
NM_016169.4(SUFU):c.129C>T (p.Arg43=)
|
rs1453485604
|
|
|
NM_016169.4(SUFU):c.1302G>A (p.Leu434=)
|
rs780117353
|
|
|
NM_016169.4(SUFU):c.1308C>G (p.Thr436=)
|
|
|
|
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
|
|
|
|
NM_016169.4(SUFU):c.1312del (p.Glu438fs)
|
rs2135954200
|
|
|
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
|
|
|
|
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser)
|
rs778975698
|
|
|
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
|
|
|
|
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala)
|
rs2135954241
|
|
|
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val)
|
rs2063793808
|
|
|
NM_016169.4(SUFU):c.1323G>A (p.Glu441=)
|
|
|
|
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile)
|
rs773805575
|
|
|
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe)
|
rs2135954289
|
|
|
NM_016169.4(SUFU):c.1334A>C (p.Glu445Ala)
|
|
|
|
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn)
|
rs2135954318
|
|
|
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val)
|
rs2135954327
|
|
|
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys)
|
rs2135954335
|
|
|
NM_016169.4(SUFU):c.1342G>C (p.Glu448Gln)
|
|
|
|
NM_016169.4(SUFU):c.1345G>A (p.Asp449Asn)
|
|
|
|
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu)
|
rs1564711403
|
|
|
NM_016169.4(SUFU):c.1348T>C (p.Leu450=)
|
|
|
|
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe)
|
rs774611157
|
|
|
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe)
|
rs2135954349
|
|
|
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
|
|
|
|
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr)
|
rs2135954353
|
|
|
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
|
|
|
|
NM_016169.4(SUFU):c.1365+13G>A
|
|
|
|
NM_016169.4(SUFU):c.1365+14A>G
|
|
|
|
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
|
|
|
|
NM_016169.4(SUFU):c.1365+1G>A
|
rs2063794106
|
|
|
NM_016169.4(SUFU):c.1365+2T>G
|
|
|
|
NM_016169.4(SUFU):c.1365+5G>A
|
|
|
|
NM_016169.4(SUFU):c.1365+6C>A
|
rs2063794144
|
|
|
NM_016169.4(SUFU):c.1365+6C>T
|
|
|
|
NM_016169.4(SUFU):c.1365+7T>A
|
|
|
|
NM_016169.4(SUFU):c.1365+8T>C
|
|
|
|
NM_016169.4(SUFU):c.1366-10C>A
|
|
|
|
NM_016169.4(SUFU):c.1366-12C>T
|
|
|
|
NM_016169.4(SUFU):c.1366-13G>C
|
|
|
|
NM_016169.4(SUFU):c.1366-15T>A
|
|
|
|
NM_016169.4(SUFU):c.1366-17G>C
|
|
|
|
NM_016169.4(SUFU):c.1366-6C>T
|
rs1564712471
|
|
|
NM_016169.4(SUFU):c.1366-7_1366-5del
|
|
|
|
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)
|
|
|
|
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
|
|
|
|
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg)
|
rs947720538
|
|
|
NM_016169.4(SUFU):c.1371A>G (p.Lys457=)
|
|
|
|
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
|
|
|
|
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
|
|
|
|
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser)
|
rs2063824067
|
|
|
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
|
|
|
|
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu)
|
rs2135598488
|
|
|
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
|
|
|
|
NM_016169.4(SUFU):c.138T>C (p.Pro46=)
|
|
|
|
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
|
|
|
|
NM_016169.4(SUFU):c.1395T>C (p.Pro465=)
|
|
|
|
NM_016169.4(SUFU):c.1398A>G (p.Glu466=)
|
rs2135959452
|
|
|
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn)
|
rs2062292973
|
|
|
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe)
|
rs1590094982
|
|
|
NM_016169.4(SUFU):c.1416C>T (p.Ser472=)
|
rs1318853616
|
|
|
NM_016169.4(SUFU):c.1419C>T (p.Ile473=)
|
rs1342217589
|
|
|
NM_016169.4(SUFU):c.1422G>T (p.Leu474=)
|
|
|
|
NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)
|
|
|
|
NM_016169.4(SUFU):c.1431G>T (p.Val477=)
|
|
|
|
NM_016169.4(SUFU):c.1432G>A (p.Val478Met)
|
|
|
|
NM_016169.4(SUFU):c.1434G>A (p.Val478=)
|
|
|
|
NM_016169.4(SUFU):c.1434G>T (p.Val478=)
|
|
|
|
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn)
|
rs1318484622
|
|
|
NM_016169.4(SUFU):c.1438G>C (p.Asp480His)
|
|
|
|
NM_016169.4(SUFU):c.143dup (p.Pro49fs)
|
rs1589970134
|
|
|
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs)
|
rs1324912821
|
|
|
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
|
|
|
|
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg)
|
rs765358771
|
|
|
NM_016169.4(SUFU):c.1446G>T (p.Pro482=)
|
|
|
|
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro)
|
rs1060501115
|
|
|
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
|
|
|
|
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr)
|
rs2135959641
|
|
|
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del)
|
rs2063824850
|
|
|
NM_016169.4(SUFU):c.1452C>T (p.His484=)
|
rs2135959647
|
|
|
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
|
|
|
|
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
|
|
|
|
NM_016169.4(SUFU):c.147G>A (p.Pro49=)
|
rs1554840859
|
|
|
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)
|
|
|
|
NM_016169.4(SUFU):c.150C>T (p.Asn50=)
|
|
|
|
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser)
|
rs2062293449
|
|
|
NM_016169.4(SUFU):c.153G>A (p.Pro51=)
|
|
|
|
NM_016169.4(SUFU):c.153G>C (p.Pro51=)
|
|
|
|
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr)
|
rs2135598653
|
|
|
NM_016169.4(SUFU):c.155T>A (p.Leu52His)
|
rs2135598661
|
|
|
NM_016169.4(SUFU):c.155T>C (p.Leu52Pro)
|
|
|
|
NM_016169.4(SUFU):c.156C>T (p.Leu52=)
|
rs1589970169
|
|
|
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter)
|
rs2135598685
|
|
|
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg)
|
rs1589970174
|
|
|
NM_016169.4(SUFU):c.15G>A (p.Arg5=)
|
rs2062288402
|
|
|
NM_016169.4(SUFU):c.160G>A (p.Val54Ile)
|
rs2135598727
|
|
|
NM_016169.4(SUFU):c.165C>A (p.Thr55=)
|
|
|
|
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser)
|
rs2062288467
|
|
|
NM_016169.4(SUFU):c.171C>G (p.Ile57Met)
|
rs1283661186
|
|
|
NM_016169.4(SUFU):c.171C>T (p.Ile57=)
|
rs1283661186
|
|
|
NM_016169.4(SUFU):c.171dup (p.Val58fs)
|
rs1554840869
|
|
|
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
|
|
|
|
NM_016169.4(SUFU):c.172G>C (p.Val58Leu)
|
rs766897671
|
|
|
NM_016169.4(SUFU):c.173T>A (p.Val58Asp)
|
rs2135598841
|
|
|
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)
|
rs1564654588
|
|
|
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
|
|
|
|
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg)
|
rs2135597134
|
|
|
NM_016169.4(SUFU):c.182+14C>G
|
rs1256929705
|
|
|
NM_016169.4(SUFU):c.182+17G>T
|
rs2135599022
|
|
|
NM_016169.4(SUFU):c.182+18G>C
|
|
|
|
NM_016169.4(SUFU):c.182+1G>A
|
rs2135598885
|
|
|
NM_016169.4(SUFU):c.182+20G>A
|
rs2135599029
|
|
|
NM_016169.4(SUFU):c.182+3A>C
|
rs1589970228
|
|
|
NM_016169.4(SUFU):c.182+3A>G
|
rs1589970228
|
|
|
NM_016169.4(SUFU):c.182+4T>C
|
rs1268149623
|
|
|
NM_016169.4(SUFU):c.182+6C>T
|
rs889720087
|
|
|
NM_016169.4(SUFU):c.182+7T>A
|
rs759858682
|
|
|
NM_016169.4(SUFU):c.182+7T>C
|
rs759858682
|
|
|
NM_016169.4(SUFU):c.182+9T>C
|
rs756923648
|
|
|
NM_016169.4(SUFU):c.183-10T>C
|
rs1060504148
|
|
|
NM_016169.4(SUFU):c.183-11G>T
|
|
|
|
NM_016169.4(SUFU):c.183-13T>C
|
|
|
|
NM_016169.4(SUFU):c.183-16G>A
|
rs2135619783
|
|
|
NM_016169.4(SUFU):c.183-18G>C
|
|
|
|
NM_016169.4(SUFU):c.183-19T>C
|
|
|
|
NM_016169.4(SUFU):c.183-1G>A
|
rs1554841447
|
|
|
NM_016169.4(SUFU):c.183-1G>T
|
|
|
|
NM_016169.4(SUFU):c.183-20C>T
|
rs761472045
|
|
|
NM_016169.4(SUFU):c.183-2A>C
|
rs2135619894
|
|
|
NM_016169.4(SUFU):c.183-4_247del
|
|
|
|
NM_016169.4(SUFU):c.183-4del
|
rs1345403982
|
|
|
NM_016169.4(SUFU):c.187G>A (p.Gly63Ser)
|
|
|
|
NM_016169.4(SUFU):c.189T>C (p.Gly63=)
|
rs2135619936
|
|
|
NM_016169.4(SUFU):c.192C>T (p.Gly64=)
|
rs2135619956
|
|
|
NM_016169.4(SUFU):c.193C>T (p.Pro65Ser)
|
|
|
|
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly)
|
rs2062288510
|
|
|
NM_016169.4(SUFU):c.200C>G (p.Pro67Arg)
|
rs1564656995
|
|
|
NM_016169.4(SUFU):c.201C>T (p.Pro67=)
|
|
|
|
NM_016169.4(SUFU):c.202T>C (p.Leu68=)
|
rs1589975244
|
|
|
NM_016169.4(SUFU):c.202T>G (p.Leu68Val)
|
rs1589975244
|
|
|
NM_016169.4(SUFU):c.204G>T (p.Leu68Phe)
|
|
|
|
NM_016169.4(SUFU):c.207C>T (p.Asp69=)
|
rs778708985
|
|
|
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
|
|
|
|
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn)
|
rs1589975269
|
|
|
NM_016169.4(SUFU):c.217A>T (p.Met73Leu)
|
rs1183694060
|
|
|
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg)
|
rs2135597167
|
|
|
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)
|
|
|
|
NM_016169.4(SUFU):c.21C>T (p.Ser7=)
|
|
|
|
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
|
|
|
|
NM_016169.4(SUFU):c.224G>A (p.Arg75Lys)
|
rs1290561880
|
|
|
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
|
|
|
|
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
|
|
|
|
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys)
|
rs769696737
|
|
|
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
|
|
|
|
NM_016169.4(SUFU):c.231G>T (p.Val77=)
|
|
|
|
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu)
|
rs2062368710
|
|
|
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr)
|
rs2135620312
|
|
|
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
|
|
|
|
NM_016169.4(SUFU):c.240T>G (p.Pro80=)
|
rs2135620342
|
|
|
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
|
|
|
|
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys)
|
rs2062368817
|
|
|
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
|
|
|
|
NM_016169.4(SUFU):c.247A>C (p.Asn83His)
|
rs2135620366
|
|
|
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp)
|
rs2135620366
|
|
|
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala)
|
rs1187640052
|
|
|
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser)
|
rs1187640052
|
|
|
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
|
|
|
|
NM_016169.4(SUFU):c.255C>G (p.Pro85=)
|
rs113671745
|
|
|
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
|
|
|
|
NM_016169.4(SUFU):c.258G>A (p.Glu86=)
|
rs1183328233
|
|
|
NM_016169.4(SUFU):c.261C>T (p.His87=)
|
|
|
|
NM_016169.4(SUFU):c.270C>T (p.Tyr90=)
|
rs2135620594
|
|
|
NM_016169.4(SUFU):c.271A>G (p.Ile91Val)
|
rs759030707
|
|
|
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn)
|
rs781318691
|
|
|
NM_016169.4(SUFU):c.273C>G (p.Ile91Met)
|
rs2062369595
|
|
|
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly)
|
rs2062369652
|
|
|
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg)
|
rs1060501106
|
|
|
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu)
|
rs770218907
|
|
|
NM_016169.4(SUFU):c.27C>A (p.Ala9=)
|
rs1244167364
|
|
|
NM_016169.4(SUFU):c.27C>T (p.Ala9=)
|
|
|
|
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
|
|
|
|
NM_016169.4(SUFU):c.285G>A (p.Leu95=)
|
rs1589975337
|
|
|
NM_016169.4(SUFU):c.285G>C (p.Leu95=)
|
rs1589975337
|
|
|
NM_016169.4(SUFU):c.285G>T (p.Leu95=)
|
rs1589975337
|
|
|
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr)
|
rs2135620752
|
|
|
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)
|
|
|
|
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser)
|
rs975936230
|
|
|
NM_016169.4(SUFU):c.295T>C (p.Tyr99His)
|
rs2062370032
|
|
|
NM_016169.4(SUFU):c.2T>C (p.Met1Thr)
|
|
|
|
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser)
|
rs146181245
|
|
|
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
|
|
|
|
NM_016169.4(SUFU):c.30C>A (p.Pro10=)
|
|
|
|
NM_016169.4(SUFU):c.313C>T (p.His105Tyr)
|
|
|
|
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln)
|
rs1040654062
|
|
|
NM_016169.4(SUFU):c.317+11G>A
|
|
|
|
NM_016169.4(SUFU):c.317+12C>T
|
|
|
|
NM_016169.4(SUFU):c.317+14A>G
|
|
|
|
NM_016169.4(SUFU):c.317+15C>T
|
|
|
|
NM_016169.4(SUFU):c.317+16C>G
|
|
|
|
NM_016169.4(SUFU):c.317+18G>C
|
rs765919055
|
|
|
NM_016169.4(SUFU):c.317+1G>A
|
rs2135621012
|
|
|
NM_016169.4(SUFU):c.317+5G>T
|
rs2062370553
|
|
|
NM_016169.4(SUFU):c.317+7A>G
|
|
|
|
NM_016169.4(SUFU):c.317+9A>C
|
rs1333202541
|
|
|
NM_016169.4(SUFU):c.317+9A>G
|
|
|
|
NM_016169.4(SUFU):c.317A>G (p.Glu106Gly)
|
|
|
|
NM_016169.4(SUFU):c.318-10T>C
|
rs2062894940
|
|
|
NM_016169.4(SUFU):c.318-11A>G
|
|
|
|
NM_016169.4(SUFU):c.318-11del
|
|
|
|
NM_016169.4(SUFU):c.318-17C>T
|
|
|
|
NM_016169.4(SUFU):c.318-19del
|
|
|
|
NM_016169.4(SUFU):c.318-1G>C
|
rs2135742927
|
|
|
NM_016169.4(SUFU):c.318-22_318-19del
|
|
|
|
NM_016169.4(SUFU):c.318-3C>T
|
|
|
|
NM_016169.4(SUFU):c.318-9G>A
|
|
|
|
NM_016169.4(SUFU):c.318G>A (p.Glu106=)
|
rs1188593672
|
|
|
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)
|
|
|
|
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
|
|
|
|
NM_016169.4(SUFU):c.327A>G (p.Gly109=)
|
rs2135743007
|
|
|
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)
|
rs1227379293
|
|
|
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu)
|
rs2062895698
|
|
|
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
|
|
|
|
NM_016169.4(SUFU):c.336A>T (p.Gly112=)
|
|
|
|
NM_016169.4(SUFU):c.339dup (p.Ser114Ter)
|
|
|
|
NM_016169.4(SUFU):c.33C>T (p.Gly11=)
|
rs12780566
|
|
|
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn)
|
rs781192849
|
|
|
NM_016169.4(SUFU):c.341G>C (p.Ser114Thr)
|
|
|
|
NM_016169.4(SUFU):c.341del (p.Ser114fs)
|
rs1060501108
|
|
|
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
|
|
|
|
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)
|
|
|
|
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala)
|
rs1564676348
|
|
|
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu)
|
rs2062895967
|
|
|
NM_016169.4(SUFU):c.357G>A (p.Glu119=)
|
|
|
|
NM_016169.4(SUFU):c.358T>G (p.Leu120Val)
|
rs1415947980
|
|
|
NM_016169.4(SUFU):c.363C>G (p.Thr121=)
|
|
|
|
NM_016169.4(SUFU):c.363C>T (p.Thr121=)
|
rs910976342
|
|
|
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu)
|
rs1216193400
|
|
|
NM_016169.4(SUFU):c.369_370delinsAT (p.Arg123_Leu124=)
|
rs2135743228
|
|
|
NM_016169.4(SUFU):c.36C>G (p.Pro12=)
|
rs1564654365
|
|
|
NM_016169.4(SUFU):c.36C>T (p.Pro12=)
|
|
|
|
NM_016169.4(SUFU):c.370C>T (p.Leu124=)
|
|
|
|
NM_016169.4(SUFU):c.375G>A (p.Lys125=)
|
rs184867271
|
|
|
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
|
|
|
|
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys)
|
rs1280071055
|
|
|
NM_016169.4(SUFU):c.37_53del (p.Thr13fs)
|
rs2135597189
|
|
|
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)
|
rs2135597189
|
|
|
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
|
|
|
|
NM_016169.4(SUFU):c.384T>C (p.Thr128=)
|
|
|
|
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
|
|
|
|
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
|
|
|
|
NM_016169.4(SUFU):c.392C>T (p.Ser131Phe)
|
|
|
|
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser)
|
rs2135743325
|
|
|
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
|
|
|
|
NM_016169.4(SUFU):c.399A>G (p.Pro133=)
|
|
|
|
NM_016169.4(SUFU):c.402A>G (p.Pro134=)
|
|
|
|
NM_016169.4(SUFU):c.404C>T (p.Thr135Ile)
|
|
|
|
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
|
|
|
|
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)
|
rs2135743382
|
|
|
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser)
|
rs1564676427
|
|
|
NM_016169.4(SUFU):c.411C>A (p.Pro137=)
|
rs946508687
|
|
|
NM_016169.4(SUFU):c.412G>T (p.Ala138Ser)
|
|
|
|
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
|
|
|
|
NM_016169.4(SUFU):c.414A>T (p.Ala138=)
|
|
|
|
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe)
|
rs1060501111
|
|
|
NM_016169.4(SUFU):c.422T>C (p.Met141Thr)
|
|
|
|
NM_016169.4(SUFU):c.424C>A (p.Gln142Lys)
|
|
|
|
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg)
|
rs2135743469
|
|
|
NM_016169.4(SUFU):c.426G>A (p.Gln142=)
|
rs2135743475
|
|
|
NM_016169.4(SUFU):c.429C>G (p.Gly143=)
|
|
|
|
NM_016169.4(SUFU):c.429C>T (p.Gly143=)
|
rs2062896951
|
|
|
NM_016169.4(SUFU):c.42G>A (p.Ala14=)
|
rs1179829804
|
|
|
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1])
|
rs2062289607
|
|
|
NM_016169.4(SUFU):c.430T>G (p.Leu144Val)
|
rs2135743501
|
|
|
NM_016169.4(SUFU):c.438A>T (p.Arg146=)
|
rs775280499
|
|
|
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala)
|
rs761921681
|
|
|
NM_016169.4(SUFU):c.442G>A (p.Val148Met)
|
rs763813479
|
|
|
NM_016169.4(SUFU):c.442G>T (p.Val148Leu)
|
rs763813479
|
|
|
NM_016169.4(SUFU):c.447C>T (p.Phe149=)
|
rs2062897233
|
|
|
NM_016169.4(SUFU):c.44C>T (p.Pro15Leu)
|
rs28942088
|
|
|
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
|
|
|
|
NM_016169.4(SUFU):c.454+10C>T
|
rs2135743674
|
|
|
NM_016169.4(SUFU):c.454+11A>G
|
|
|
|
NM_016169.4(SUFU):c.454+13G>C
|
|
|
|
NM_016169.4(SUFU):c.454+13_454+14dup
|
rs780518303
|
|
|
NM_016169.4(SUFU):c.454+15C>T
|
|
|
|
NM_016169.4(SUFU):c.454+17G>C
|
|
|
|
NM_016169.4(SUFU):c.454+18G>T
|
|
|
|
NM_016169.4(SUFU):c.454+1G>A
|
rs1564676479
|
|
|
NM_016169.4(SUFU):c.454+20TGCTG[3]
|
|
|
|
NM_016169.4(SUFU):c.454+4_454+5del
|
|
|
|
NM_016169.4(SUFU):c.454+6A>T
|
rs2062897274
|
|
|
NM_016169.4(SUFU):c.454+6_454+8del
|
rs2135743623
|
|
|
NM_016169.4(SUFU):c.454+7G>T
|
|
|
|
NM_016169.4(SUFU):c.454+8G>A
|
rs1172897703
|
|
|
NM_016169.4(SUFU):c.455-10T>A
|
|
|
|
NM_016169.4(SUFU):c.455-11C>G
|
|
|
|
NM_016169.4(SUFU):c.455-13A>G
|
|
|
|
NM_016169.4(SUFU):c.455-13A>T
|
|
|
|
NM_016169.4(SUFU):c.455-15G>A
|
|
|
|
NM_016169.4(SUFU):c.455-17T>G
|
rs2135866499
|
|
|
NM_016169.4(SUFU):c.455-19C>A
|
rs370818590
|
|
|
NM_016169.4(SUFU):c.455-19C>T
|
|
|
|
NM_016169.4(SUFU):c.455-20T>A
|
|
|
|
NM_016169.4(SUFU):c.455-5C>T
|
rs2135866563
|
|
|
NM_016169.4(SUFU):c.455-6C>T
|
rs2135866556
|
|
|
NM_016169.4(SUFU):c.455-9C>T
|
|
|
|
NM_016169.4(SUFU):c.45C>A (p.Pro15=)
|
|
|
|
NM_016169.4(SUFU):c.460A>G (p.Thr154Ala)
|
|
|
|
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
|
|
|
|
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys)
|
rs2063414949
|
|
|
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg)
|
rs1554852266
|
|
|
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly)
|
rs2063415039
|
|
|
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
|
|
|
|
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr)
|
rs978312925
|
|
|
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)
|
|
|
|
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
|
|
|
|
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)
|
|
|
|
NM_016169.4(SUFU):c.48G>C (p.Pro16=)
|
|
|
|
NM_016169.4(SUFU):c.48G>T (p.Pro16=)
|
rs1467238395
|
|
|
NM_016169.4(SUFU):c.490C>T (p.His164Tyr)
|
rs2063415325
|
|
|
NM_016169.4(SUFU):c.492C>T (p.His164=)
|
|
|
|
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
|
|
|
|
NM_016169.4(SUFU):c.497C>G (p.Pro166Arg)
|
|
|
|
NM_016169.4(SUFU):c.497C>T (p.Pro166Leu)
|
|
|
|
NM_016169.4(SUFU):c.49G>C (p.Ala17Pro)
|
|
|
|
NM_016169.4(SUFU):c.502G>A (p.Asp168Asn)
|
|
|
|
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
|
|
|
|
NM_016169.4(SUFU):c.516A>C (p.Ser172=)
|
|
|
|
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile)
|
rs587778697
|
|
|
NM_016169.4(SUFU):c.51C>G (p.Ala17=)
|
|
|
|
NM_016169.4(SUFU):c.51C>T (p.Ala17=)
|
|
|
|
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn)
|
rs2063415661
|
|
|
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr)
|
rs2063415661
|
|
|
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)
|
|
|
|
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1])
|
rs1426839991
|
|
|
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
|
|
|
|
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)
|
|
|
|
NM_016169.4(SUFU):c.53_59del (p.Pro18fs)
|
rs2135597558
|
|
|
NM_016169.4(SUFU):c.53del (p.Pro18fs)
|
rs2135597588
|
|
|
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
|
|
|
|
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn)
|
rs2135867046
|
|
|
NM_016169.4(SUFU):c.546C>T (p.Asp182=)
|
rs2135867056
|
|
|
NM_016169.4(SUFU):c.548C>T (p.Pro183Leu)
|
|
|
|
NM_016169.4(SUFU):c.54T>C (p.Pro18=)
|
rs1453186079
|
|
|
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu)
|
rs2063416132
|
|
|
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro)
|
rs2063416174
|
|
|
NM_016169.4(SUFU):c.551A>G (p.Gln184Arg)
|
|
|
|
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
|
|
|
|
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
|
|
|
|
NM_016169.4(SUFU):c.558G>A (p.Gln186=)
|
|
|
|
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)
|
|
|
|
NM_016169.4(SUFU):c.561C>G (p.Pro187=)
|
rs769503197
|
|
|
NM_016169.4(SUFU):c.563T>C (p.Val188Ala)
|
rs2063416415
|
|
|
NM_016169.4(SUFU):c.566A>G (p.Gln189Arg)
|
|
|
|
NM_016169.4(SUFU):c.567G>T (p.Gln189His)
|
|
|
|
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp)
|
rs1589969913
|
|
|
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
|
|
|
|
NM_016169.4(SUFU):c.573C>G (p.Pro191=)
|
|
|
|
NM_016169.4(SUFU):c.573C>T (p.Pro191=)
|
rs1170074019
|
|
|
NM_016169.4(SUFU):c.576dup (p.Gly193fs)
|
rs2135867295
|
|
|
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
|
|
|
|
NM_016169.4(SUFU):c.581del (p.Val194fs)
|
|
|
|
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)
|
rs1554852279
|
|
|
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro)
|
rs2135867363
|
|
|
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala)
|
rs2135867363
|
|
|
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile)
|
rs2063416715
|
|
|
NM_016169.4(SUFU):c.588C>G (p.Thr196=)
|
|
|
|
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
|
|
|
|
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
|
|
|
|
NM_016169.4(SUFU):c.597+11G>A
|
rs754485815
|
|
|
NM_016169.4(SUFU):c.597+12G>C
|
|
|
|
NM_016169.4(SUFU):c.597+13T>C
|
|
|
|
NM_016169.4(SUFU):c.597+15G>A
|
|
|
|
NM_016169.4(SUFU):c.597+19G>A
|
|
|
|
NM_016169.4(SUFU):c.597+19G>T
|
|
|
|
NM_016169.4(SUFU):c.597+1G>C
|
rs1590062006
|
|
|
NM_016169.4(SUFU):c.597+5G>A
|
rs1590062007
|
|
|
NM_016169.4(SUFU):c.597+6dup
|
|
|
|
NM_016169.4(SUFU):c.597+8A>C
|
rs2135867474
|
|
|
NM_016169.4(SUFU):c.597+9C>A
|
|
|
|
NM_016169.4(SUFU):c.597+9C>T
|
rs768196164
|
|
|
NM_016169.4(SUFU):c.597G>A (p.Gln199=)
|
rs1060501112
|
|
|
NM_016169.4(SUFU):c.598-12C>G
|
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|
|
NM_016169.4(SUFU):c.598-13T>C
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|
NM_016169.4(SUFU):c.598-14A>C
|
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|
NM_016169.4(SUFU):c.598-14A>G
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|
|
NM_016169.4(SUFU):c.598-18T>C
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|
NM_016169.4(SUFU):c.598-4T>C
|
rs2135870306
|
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|
NM_016169.4(SUFU):c.598-4T>G
|
rs2135870306
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|
NM_016169.4(SUFU):c.598-5C>A
|
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NM_016169.4(SUFU):c.598-6C>T
|
rs2135870298
|
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|
NM_016169.4(SUFU):c.598-7G>A
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NM_016169.4(SUFU):c.598-8G>C
|
rs2135870288
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NM_016169.4(SUFU):c.598-8G>T
|
rs2135870288
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NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
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NM_016169.4(SUFU):c.5C>G (p.Ala2Gly)
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NM_016169.4(SUFU):c.600C>A (p.Ile200=)
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NM_016169.4(SUFU):c.600C>G (p.Ile200Met)
|
rs149513330
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NM_016169.4(SUFU):c.603T>C (p.Val201=)
|
rs1554852370
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NM_016169.4(SUFU):c.60G>C (p.Pro20=)
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NM_016169.4(SUFU):c.60G>T (p.Pro20=)
|
rs1589969926
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NM_016169.4(SUFU):c.614C>T (p.Thr205Ile)
|
rs1478836560
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NM_016169.4(SUFU):c.616G>A (p.Glu206Lys)
|
rs1590062858
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NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
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NM_016169.4(SUFU):c.618A>G (p.Glu206=)
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NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
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NM_016169.4(SUFU):c.624A>C (p.Leu208=)
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NM_016169.4(SUFU):c.624A>G (p.Leu208=)
|
rs761722899
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NM_016169.4(SUFU):c.626A>C (p.His209Pro)
|
rs1590062872
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NM_016169.4(SUFU):c.626A>T (p.His209Leu)
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NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
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NM_016169.4(SUFU):c.633C>T (p.Ala211=)
|
rs2135870571
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NM_016169.4(SUFU):c.635A>G (p.Gln212Arg)
|
rs2063428727
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NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)
|
rs907135467
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NM_016169.4(SUFU):c.639G>A (p.Gln213=)
|
rs1590062886
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NM_016169.4(SUFU):c.63T>C (p.Thr21=)
|
rs1589969931
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NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
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NM_016169.4(SUFU):c.645C>G (p.Asn215Lys)
|
rs551772204
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NM_016169.4(SUFU):c.646G>A (p.Gly216Arg)
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rs2063429038
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NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
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NM_016169.4(SUFU):c.649_661del (p.Gln217fs)
|
rs1590062899
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NM_016169.4(SUFU):c.654C>A (p.Gly218=)
|
rs1227186441
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NM_016169.4(SUFU):c.654C>T (p.Gly218=)
|
rs1227186441
|
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NM_016169.4(SUFU):c.65C>A (p.Ala22Asp)
|
rs761240106
|
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NM_016169.4(SUFU):c.65C>T (p.Ala22Val)
|
rs761240106
|
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NM_016169.4(SUFU):c.660G>A (p.Leu220=)
|
rs2135870749
|
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NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
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NM_016169.4(SUFU):c.661del (p.Glu221fs)
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NM_016169.4(SUFU):c.663G>A (p.Glu221=)
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NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
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NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
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NM_016169.4(SUFU):c.664C>T (p.Leu222=)
|
rs765345575
|
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NM_016169.4(SUFU):c.666G>A (p.Leu222=)
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NM_016169.4(SUFU):c.666G>C (p.Leu222=)
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NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
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NM_016169.4(SUFU):c.669G>A (p.Leu223=)
|
rs1432212427
|
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NM_016169.4(SUFU):c.669G>C (p.Leu223=)
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NM_016169.4(SUFU):c.66C>A (p.Ala22=)
|
rs1265496966
|
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NM_016169.4(SUFU):c.66C>G (p.Ala22=)
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NM_016169.4(SUFU):c.66C>T (p.Ala22=)
|
rs1265496966
|
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NM_016169.4(SUFU):c.670C>T (p.Arg224Trp)
|
rs1590062935
|
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NM_016169.4(SUFU):c.673A>T (p.Thr225Ser)
|
rs2063429642
|
|
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NM_016169.4(SUFU):c.674C>G (p.Thr225Arg)
|
rs1432427138
|
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NM_016169.4(SUFU):c.677T>C (p.Val226Ala)
|
rs895181370
|
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NM_016169.4(SUFU):c.678G>T (p.Val226=)
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NM_016169.4(SUFU):c.67C>G (p.Pro23Ala)
|
rs766666529
|
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NM_016169.4(SUFU):c.681T>C (p.Pro227=)
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NM_016169.4(SUFU):c.683+10C>A
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NM_016169.4(SUFU):c.683+10del
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NM_016169.4(SUFU):c.683+14C>A
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NM_016169.4(SUFU):c.683+18G>A
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NM_016169.4(SUFU):c.683+19T>C
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NM_016169.4(SUFU):c.683+1G>A
|
rs2135870923
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NM_016169.4(SUFU):c.683+21_683+24dup
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NM_016169.4(SUFU):c.683+3G>A
|
rs1590062961
|
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NM_016169.4(SUFU):c.683+7A>G
|
rs764695403
|
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|
NM_016169.4(SUFU):c.683+7A>T
|
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NM_016169.4(SUFU):c.683+8C>G
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|
NM_016169.4(SUFU):c.684-11C>T
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NM_016169.4(SUFU):c.684-11del
|
rs1650612996
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NM_016169.4(SUFU):c.684-13T>C
|
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|
NM_016169.4(SUFU):c.684-19C>A
|
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NM_016169.4(SUFU):c.684-20T>C
|
|
|
|
NM_016169.4(SUFU):c.684-2A>G
|
rs1590063305
|
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|
NM_016169.4(SUFU):c.684-5C>T
|
|
|
|
NM_016169.4(SUFU):c.684-6C>T
|
|
|
|
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly)
|
rs1590063307
|
|
|
NM_016169.4(SUFU):c.686C>T (p.Ala229Val)
|
rs1590063307
|
|
|
NM_016169.4(SUFU):c.687T>C (p.Ala229=)
|
|
|
|
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
|
|
|
|
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)
|
rs1060501110
|
|
|
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser)
|
rs1060501110
|
|
|
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu)
|
rs1240436102
|
|
|
NM_016169.4(SUFU):c.696C>G (p.Pro232=)
|
rs2063434189
|
|
|
NM_016169.4(SUFU):c.696C>T (p.Pro232=)
|
rs2063434189
|
|
|
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg)
|
rs1590063333
|
|
|
NM_016169.4(SUFU):c.69C>G (p.Pro23=)
|
|
|
|
NM_016169.4(SUFU):c.69C>T (p.Pro23=)
|
rs1320688671
|
|
|
NM_016169.4(SUFU):c.6G>A (p.Ala2=)
|
rs746555296
|
|
|
NM_016169.4(SUFU):c.700C>A (p.Leu234Met)
|
|
|
|
NM_016169.4(SUFU):c.702G>T (p.Leu234=)
|
|
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|
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
|
|
|
|
NM_016169.4(SUFU):c.708T>C (p.Thr236=)
|
rs2135872255
|
|
|
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr)
|
|
|
|
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala)
|
rs1219870817
|
|
|
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser)
|
rs1219870817
|
|
|
NM_016169.4(SUFU):c.711C>T (p.Asp237=)
|
|
|
|
NM_016169.4(SUFU):c.712A>G (p.Met238Val)
|
rs2063434374
|
|
|
NM_016169.4(SUFU):c.713T>C (p.Met238Thr)
|
rs2063434396
|
|
|
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
|
|
|
|
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly)
|
rs369465986
|
|
|
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp)
|
rs369465986
|
|
|
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)
|
rs1403040084
|
|
|
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln)
|
rs754218597
|
|
|
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu)
|
|
|
|
NM_016169.4(SUFU):c.71del (p.Pro24fs)
|
rs587776579
|
|
|
NM_016169.4(SUFU):c.71dup (p.Ala25fs)
|
rs587776579
|
|
|
NM_016169.4(SUFU):c.720G>A (p.Arg240=)
|
|
|
|
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser)
|
rs762294261
|
|
|
NM_016169.4(SUFU):c.72G>A (p.Pro24=)
|
rs1322344970
|
|
|
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr)
|
rs2063435042
|
|
|
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser)
|
rs1303650670
|
|
|
NM_016169.4(SUFU):c.734T>G (p.Phe245Cys)
|
|
|
|
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr)
|
rs2135597901
|
|
|
NM_016169.4(SUFU):c.73dup (p.Ala25fs)
|
rs2135597894
|
|
|
NM_016169.4(SUFU):c.741C>G (p.Ile247Met)
|
rs2135872473
|
|
|
NM_016169.4(SUFU):c.741C>T (p.Ile247=)
|
rs2135872473
|
|
|
NM_016169.4(SUFU):c.742G>C (p.Asp248His)
|
rs1283509771
|
|
|
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly)
|
rs2135872517
|
|
|
NM_016169.4(SUFU):c.748C>T (p.His250Tyr)
|
rs2135872528
|
|
|
NM_016169.4(SUFU):c.749A>G (p.His250Arg)
|
rs750808785
|
|
|
NM_016169.4(SUFU):c.74C>T (p.Ala25Val)
|
rs2062291323
|
|
|
NM_016169.4(SUFU):c.753G>C (p.Leu251=)
|
rs2063435526
|
|
|
NM_016169.4(SUFU):c.753_756+2dup
|
rs2063435496
|
|
|
NM_016169.4(SUFU):c.756+10G>T
|
|
|
|
NM_016169.4(SUFU):c.756+12G>C
|
|
|
|
NM_016169.4(SUFU):c.756+16G>A
|
|
|
|
NM_016169.4(SUFU):c.756+17G>A
|
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|
NM_016169.4(SUFU):c.756+19A>G
|
|
|
|
NM_016169.4(SUFU):c.756+20_756+21del
|
|
|
|
NM_016169.4(SUFU):c.756A>C (p.Gln252His)
|
rs1317467424
|
|
|
NM_016169.4(SUFU):c.757-11_757-7del
|
rs1060501103
|
|
|
NM_016169.4(SUFU):c.757-15G>A
|
|
|
|
NM_016169.4(SUFU):c.757-15G>T
|
rs1564698642
|
|
|
NM_016169.4(SUFU):c.757-17T>G
|
rs2135880991
|
|
|
NM_016169.4(SUFU):c.757-4G>A
|
|
|
|
NM_016169.4(SUFU):c.757-4G>T
|
rs1554852773
|
|
|
NM_016169.4(SUFU):c.757-5A>G
|
rs1590065871
|
|
|
NM_016169.4(SUFU):c.757-6A>G
|
rs2135881035
|
|
|
NM_016169.4(SUFU):c.757-7C>T
|
rs2135881029
|
|
|
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
|
|
|
|
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly)
|
rs2135881068
|
|
|
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr)
|
rs2135881076
|
|
|
NM_016169.4(SUFU):c.762A>G (p.Arg254=)
|
rs2135881090
|
|
|
NM_016169.4(SUFU):c.771A>G (p.Lys257=)
|
|
|
|
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
|
|
|
|
NM_016169.4(SUFU):c.774C>A (p.Gly258=)
|
rs2063470954
|
|
|
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
|
|
|
|
NM_016169.4(SUFU):c.776T>C (p.Ile259Thr)
|
rs1590065889
|
|
|
NM_016169.4(SUFU):c.777C>A (p.Ile259=)
|
|
|
|
NM_016169.4(SUFU):c.777C>G (p.Ile259Met)
|
rs749533220
|
|
|
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln)
|
rs775245784
|
|
|
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro)
|
rs2063471103
|
|
|
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile)
|
rs2135881195
|
|
|
NM_016169.4(SUFU):c.789C>T (p.Gly263=)
|
|
|
|
NM_016169.4(SUFU):c.78C>T (p.Phe26=)
|
rs2135597954
|
|
|
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
|
|
|
|
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
|
|
|
|
NM_016169.4(SUFU):c.795C>T (p.Asn265=)
|
rs2135881259
|
|
|
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr)
|
rs2062291537
|
|
|
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
|
|
|
|
NM_016169.4(SUFU):c.804T>C (p.Gly268=)
|
rs2135881315
|
|
|
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
|
|
|
|
NM_016169.4(SUFU):c.80C>T (p.Ala27Val)
|
rs1664857380
|
|
|
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg)
|
rs2063471312
|
|
|
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs)
|
rs2063471372
|
|
|
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
|
|
|
|
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
|
|
|
|
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg)
|
rs2063471403
|
|
|
NM_016169.4(SUFU):c.81T>G (p.Ala27=)
|
|
|
|
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
|
|
|
|
NM_016169.4(SUFU):c.822C>T (p.Ala274=)
|
rs2135881424
|
|
|
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)
|
rs1564698683
|
|
|
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)
|
rs1590065940
|
|
|
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
|
|
|
|
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
|
|
|
|
NM_016169.4(SUFU):c.827A>T (p.Asp276Val)
|
rs772598822
|
|
|
NM_016169.4(SUFU):c.828T>C (p.Asp276=)
|
|
|
|
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala)
|
|
|
|
NM_016169.4(SUFU):c.82_86del (p.Ser28fs)
|
rs2135597925
|
|
|
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
|
|
|
|
NM_016169.4(SUFU):c.831C>T (p.Asp277=)
|
rs1340330498
|
|
|
NM_016169.4(SUFU):c.832C>T (p.Leu278=)
|
rs1060504147
|
|
|
NM_016169.4(SUFU):c.834G>A (p.Leu278=)
|
|
|
|
NM_016169.4(SUFU):c.834G>C (p.Leu278=)
|
rs773747013
|
|
|
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn)
|
rs1486885056
|
|
|
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg)
|
rs1564698718
|
|
|
NM_016169.4(SUFU):c.838C>A (p.Arg280=)
|
|
|
|
NM_016169.4(SUFU):c.840G>T (p.Arg280=)
|
|
|
|
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr)
|
rs2063471841
|
|
|
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
|
|
|
|
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser)
|
rs2063471841
|
|
|
NM_016169.4(SUFU):c.843C>A (p.Pro281=)
|
rs1590066015
|
|
|
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala)
|
rs1215810497
|
|
|
NM_016169.4(SUFU):c.846C>A (p.Pro282=)
|
rs762558038
|
|
|
NM_016169.4(SUFU):c.846C>G (p.Pro282=)
|
rs762558038
|
|
|
NM_016169.4(SUFU):c.846del (p.Glu283fs)
|
|
|
|
NM_016169.4(SUFU):c.846dup (p.Glu283fs)
|
rs1477199832
|
|
|
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys)
|
rs1554852789
|
|
|
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln)
|
rs1554852789
|
|
|
NM_016169.4(SUFU):c.847dup (p.Glu283fs)
|
rs2063472158
|
|
|
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
|
|
|
|
NM_016169.4(SUFU):c.84G>C (p.Ser28=)
|
rs376752468
|
|
|
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
|
|
|
|
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup)
|
rs2135881773
|
|
|
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
|
|
|
|
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup)
|
rs1363458155
|
|
|
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu)
|
rs200206997
|
|
|
NM_016169.4(SUFU):c.858G>A (p.Glu286=)
|
|
|
|
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp)
|
rs1007675139
|
|
|
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn)
|
rs750436246
|
|
|
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs)
|
rs2135881899
|
|
|
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys)
|
rs2135881950
|
|
|
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly)
|
rs755961394
|
|
|
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp)
|
rs755961394
|
|
|
NM_016169.4(SUFU):c.867G>A (p.Arg289=)
|
|
|
|
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly)
|
rs1406131774
|
|
|
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn)
|
rs749461207
|
|
|
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg)
|
rs2062291773
|
|
|
NM_016169.4(SUFU):c.870C>T (p.Ser290=)
|
rs970618921
|
|
|
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
|
|
|
|
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr)
|
rs193921097
|
|
|
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe)
|
rs193921097
|
|
|
NM_016169.4(SUFU):c.876C>T (p.Cys292=)
|
|
|
|
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
|
|
|
|
NM_016169.4(SUFU):c.877A>G (p.Ile293Val)
|
rs574002050
|
|
|
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn)
|
rs1487599100
|
|
|
NM_016169.4(SUFU):c.87C>T (p.Leu29=)
|
rs2135598027
|
|
|
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)
|
|
|
|
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp)
|
rs761234425
|
|
|
NM_016169.4(SUFU):c.882C>T (p.Gly294=)
|
rs2135882176
|
|
|
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
|
|
|
|
NM_016169.4(SUFU):c.885A>C (p.Thr295=)
|
|
|
|
NM_016169.4(SUFU):c.885A>G (p.Thr295=)
|
rs2135882202
|
|
|
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter)
|
rs2135882212
|
|
|
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg)
|
rs2135882221
|
|
|
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
|
|
|
|
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu)
|
rs1590066137
|
|
|
NM_016169.4(SUFU):c.891C>G (p.Pro297=)
|
rs1590066144
|
|
|
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
|
|
|
|
NM_016169.4(SUFU):c.892del (p.Arg298fs)
|
rs2063473101
|
|
|
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln)
|
rs1197687313
|
|
|
NM_016169.4(SUFU):c.893G>C (p.Arg298Pro)
|
|
|
|
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs)
|
rs2135882232
|
|
|
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
|
|
|
|
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
|
|
|
|
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)
|
rs1590066162
|
|
|
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)
|
rs1564698850
|
|
|
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
|
|
|
|
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly)
|
rs757097388
|
|
|
NM_016169.4(SUFU):c.900C>G (p.Leu300=)
|
|
|
|
NM_016169.4(SUFU):c.900C>T (p.Leu300=)
|
rs1174044335
|
|
|
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys)
|
rs1554852823
|
|
|
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe)
|
rs1554852823
|
|
|
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
|
|
|
|
NM_016169.4(SUFU):c.90T>C (p.Phe30=)
|
rs1589970035
|
|
|
NM_016169.4(SUFU):c.910+13A>G
|
|
|
|
NM_016169.4(SUFU):c.910+15T>G
|
|
|
|
NM_016169.4(SUFU):c.910+4G>A
|
rs1060501104
|
|
|
NM_016169.4(SUFU):c.910+5G>A
|
rs2135882479
|
|
|
NM_016169.4(SUFU):c.910+7G>A
|
|
|
|
NM_016169.4(SUFU):c.910+7G>C
|
|
|
|
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
|
|
|
|
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
|
|
|
|
NM_016169.4(SUFU):c.911-10G>A
|
|
|
|
NM_016169.4(SUFU):c.911-10G>T
|
rs747454071
|
|
|
NM_016169.4(SUFU):c.911-12G>A
|
rs1455480257
|
|
|
NM_016169.4(SUFU):c.911-13G>T
|
|
|
|
NM_016169.4(SUFU):c.911-14T>C
|
|
|
|
NM_016169.4(SUFU):c.911-17T>C
|
rs2063494764
|
|
|
NM_016169.4(SUFU):c.911-1G>T
|
|
|
|
NM_016169.4(SUFU):c.911-2A>C
|
|
|
|
NM_016169.4(SUFU):c.911-4G>A
|
|
|
|
NM_016169.4(SUFU):c.911-4G>T
|
rs2135888490
|
|
|
NM_016169.4(SUFU):c.911-8C>T
|
rs771361493
|
|
|
NM_016169.4(SUFU):c.912C>T (p.Asp304=)
|
|
|
|
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala)
|
rs1590067989
|
|
|
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser)
|
rs1590067989
|
|
|
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
|
|
|
|
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr)
|
rs1554840836
|
|
|
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala)
|
rs1554840836
|
|
|
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser)
|
rs1554840836
|
|
|
NM_016169.4(SUFU):c.921G>T (p.Gln307His)
|
|
|
|
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
|
|
|
|
NM_016169.4(SUFU):c.927G>A (p.Arg309=)
|
|
|
|
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln)
|
rs376797758
|
|
|
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu)
|
rs2135598089
|
|
|
NM_016169.4(SUFU):c.933C>T (p.Thr311=)
|
rs767071744
|
|
|
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer)
|
rs2135888594
|
|
|
NM_016169.4(SUFU):c.935T>A (p.Leu312Gln)
|
|
|
|
NM_016169.4(SUFU):c.937A>G (p.Arg313Gly)
|
|
|
|
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
|
|
|
|
NM_016169.4(SUFU):c.939G>A (p.Arg313=)
|
|
|
|
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys)
|
rs369741612
|
|
|
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu)
|
rs2135888649
|
|
|
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe)
|
rs1554853004
|
|
|
NM_016169.4(SUFU):c.948C>T (p.Leu316=)
|
rs1236947004
|
|
|
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del)
|
rs2063495678
|
|
|
NM_016169.4(SUFU):c.951G>A (p.Glu317=)
|
|
|
|
NM_016169.4(SUFU):c.954C>G (p.Ile318Met)
|
|
|
|
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser)
|
rs1479527039
|
|
|
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn)
|
rs753862598
|
|
|
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr)
|
rs753862598
|
|
|
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu)
|
rs2135598107
|
|
|
NM_016169.4(SUFU):c.95del (p.Pro32fs)
|
|
|
|
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg)
|
rs754716152
|
|
|
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
|
|
|
|
NM_016169.4(SUFU):c.965C>A (p.Pro322His)
|
rs2135888788
|
|
|
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
|
|
|
|
NM_016169.4(SUFU):c.969C>G (p.Val323=)
|
|
|
|
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe)
|
rs2063495996
|
|
|
NM_016169.4(SUFU):c.972T>C (p.Leu324=)
|
|
|
|
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu)
|
rs2135888846
|
|
|
NM_016169.4(SUFU):c.978A>C (p.Pro326=)
|
|
|
|
NM_016169.4(SUFU):c.978A>G (p.Pro326=)
|
|
|
|
NM_016169.4(SUFU):c.978A>T (p.Pro326=)
|
rs2135888873
|
|
|
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser)
|
rs2135888901
|
|
|
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala)
|
rs2063496120
|
|
|
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
|
|
|
|
NM_016169.4(SUFU):c.987T>G (p.Pro329=)
|
rs906267027
|
|
|
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg)
|
rs1060501107
|
|
|
NM_016169.4(SUFU):c.995A>G (p.Gln332Arg)
|
|
|
|
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)
|
|
|
|
NM_016169.4(SUFU):c.9G>C (p.Glu3Asp)
|
|
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
|
NM_020987.5(ANK3):c.7068dup (p.Glu2357fs)
|
|
|
|
NM_022768.5(RBM15):c.1912C>A (p.Gln638Lys)
|
rs1553224979
|
|
|
NM_024426.6(WT1):c.*100A>G
|
rs1851738551
|
|
|
NM_024426.6(WT1):c.*1021GT[14]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[15]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[18]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[19]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[20]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1049del
|
rs568803808
|
|
|
NM_024426.6(WT1):c.*1058G>T
|
rs886048211
|
|
|
NM_024426.6(WT1):c.*1225T>C
|
rs886048210
|
|
|
NM_024426.6(WT1):c.*1239T>A
|
rs534396876
|
|
|
NM_024426.6(WT1):c.*269G>T
|
rs886048225
|
|
|
NM_024426.6(WT1):c.*2G>A
|
|
|
|
NM_024426.6(WT1):c.*345G>A
|
rs5030318
|
|
|
NM_024426.6(WT1):c.*354G>T
|
rs886048224
|
|
|
NM_024426.6(WT1):c.*366C>A
|
rs886048223
|
|
|
NM_024426.6(WT1):c.*393G>T
|
rs886048222
|
|
|
NM_024426.6(WT1):c.*3G>A
|
|
|
|
NM_024426.6(WT1):c.*5T>C
|
rs765743928
|
|
|
NM_024426.6(WT1):c.*629T>C
|
rs1851723085
|
|
|
NM_024426.6(WT1):c.*685G>T
|
rs886048218
|
|
|
NM_024426.6(WT1):c.*707C>A
|
rs886048217
|
|
|
NM_024426.6(WT1):c.*741G>T
|
rs886048216
|
|
|
NM_024426.6(WT1):c.*768A>C
|
rs886048215
|
|
|
NM_024426.6(WT1):c.*841C>A
|
rs886048213
|
|
|
NM_024426.6(WT1):c.*864T>A
|
rs5030323
|
|
|
NM_024426.6(WT1):c.*864T>G
|
rs5030323
|
|
|
NM_024426.6(WT1):c.*978dup
|
rs5030326
|
|
|
NM_024426.6(WT1):c.-102C>A
|
rs886048240
|
|
|
NM_024426.6(WT1):c.-114T>A
|
rs886048242
|
|
|
NM_024426.6(WT1):c.-135G>A
|
rs886048243
|
|
|
NM_024426.6(WT1):c.-31G>T
|
rs886048234
|
|
|
NM_024426.6(WT1):c.-82A>C
|
rs886048236
|
|
|
NM_024426.6(WT1):c.-86T>C
|
rs886048237
|
|
|
NM_024426.6(WT1):c.-87C>T
|
rs1395440150
|
|
|
NM_024426.6(WT1):c.-90T>C
|
rs886048238
|
|
|
NM_024426.6(WT1):c.-94G>C
|
rs886048239
|
|
|
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
|
|
|
|
NM_024426.6(WT1):c.1002A>T (p.Thr334=)
|
rs1590373446
|
|
|
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly)
|
rs2133032382
|
|
|
NM_024426.6(WT1):c.100G>C (p.Glu34Gln)
|
|
|
|
NM_024426.6(WT1):c.1011G>A (p.Gln337=)
|
rs1590373398
|
|
|
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg)
|
rs1852674776
|
|
|
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly)
|
rs1852674776
|
|
|
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp)
|
rs1852674511
|
|
|
NM_024426.6(WT1):c.1016+12A>G
|
rs2133032183
|
|
|
NM_024426.6(WT1):c.1016+13T>C
|
rs1425896469
|
|
|
NM_024426.6(WT1):c.1016+14G>A
|
|
|
|
NM_024426.6(WT1):c.1016+14_1016+15delinsAA
|
|
|
|
NM_024426.6(WT1):c.1016+15C>A
|
|
|
|
NM_024426.6(WT1):c.1016+16G>A
|
|
|
|
NM_024426.6(WT1):c.1016+1G>A
|
rs2133032244
|
|
|
NM_024426.6(WT1):c.1016+20A>G
|
|
|
|
NM_024426.6(WT1):c.1016+2T>G
|
rs1852674417
|
|
|
NM_024426.6(WT1):c.1016+6T>C
|
|
|
|
NM_024426.6(WT1):c.1016+7G>A
|
|
|
|
NM_024426.6(WT1):c.1016+8G>A
|
|
|
|
NM_024426.6(WT1):c.1016+8dup
|
|
|
|
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
|
|
|
|
NM_024426.6(WT1):c.1017-10G>T
|
rs2132959474
|
|
|
NM_024426.6(WT1):c.1017-11T>C
|
rs1564975924
|
|
|
NM_024426.6(WT1):c.1017-12T>G
|
|
|
|
NM_024426.6(WT1):c.1017-18C>G
|
|
|
|
NM_024426.6(WT1):c.1017-19C>A
|
|
|
|
NM_024426.6(WT1):c.1017-1G>A
|
rs868047507
|
|
|
NM_024426.6(WT1):c.1017-20T>C
|
|
|
|
NM_024426.6(WT1):c.1017-20dup
|
|
|
|
NM_024426.6(WT1):c.1017-2A>G
|
|
|
|
NM_024426.6(WT1):c.1017-3C>T
|
rs1554940545
|
|
|
NM_024426.6(WT1):c.1017-8G>C
|
|
|
|
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
|
|
|
|
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg)
|
rs1564975891
|
|
|
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn)
|
rs371021920
|
|
|
NM_024426.6(WT1):c.1024A>T (p.Thr342Ser)
|
|
|
|
NM_024426.6(WT1):c.1026A>C (p.Thr342=)
|
|
|
|
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu)
|
rs2132959011
|
|
|
NM_024426.6(WT1):c.1029G>T (p.Gly343=)
|
rs752102247
|
|
|
NM_024426.6(WT1):c.1029del (p.Tyr344fs)
|
|
|
|
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys)
|
rs1852103005
|
|
|
NM_024426.6(WT1):c.1031A>T (p.Tyr344Phe)
|
|
|
|
NM_024426.6(WT1):c.1032C>G (p.Tyr344Ter)
|
|
|
|
NM_024426.6(WT1):c.1032C>T (p.Tyr344=)
|
rs1338914258
|
|
|
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys)
|
rs2132958801
|
|
|
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg)
|
rs750018485
|
|
|
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn)
|
rs267602851
|
|
|
NM_024426.6(WT1):c.1041T>C (p.Asp347=)
|
rs1159089816
|
|
|
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
|
|
|
|
NM_024426.6(WT1):c.1044C>T (p.Asn348=)
|
|
|
|
NM_024426.6(WT1):c.1045C>G (p.His349Asp)
|
|
|
|
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
|
|
|
|
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
|
|
|
|
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala)
|
rs2132958406
|
|
|
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
|
|
|
|
NM_024426.6(WT1):c.1052C>T (p.Thr351Met)
|
rs761627098
|
|
|
NM_024426.6(WT1):c.1053G>C (p.Thr351=)
|
rs1260693060
|
|
|
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
|
|
|
|
NM_024426.6(WT1):c.1056C>T (p.Pro352=)
|
rs2132958298
|
|
|
NM_024426.6(WT1):c.1057A>G (p.Ile353Val)
|
rs1554940527
|
|
|
NM_024426.6(WT1):c.1058T>A (p.Ile353Asn)
|
|
|
|
NM_024426.6(WT1):c.105G>T (p.Gln35His)
|
|
|
|
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
|
|
|
|
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu)
|
rs760654956
|
|
|
NM_024426.6(WT1):c.1068A>G (p.Gly356=)
|
|
|
|
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
|
|
|
|
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
|
|
|
|
NM_024426.6(WT1):c.1071C>G (p.Ala357=)
|
|
|
|
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu)
|
rs771117558
|
|
|
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg)
|
rs1554940518
|
|
|
NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)
|
|
|
|
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly)
|
rs1852099254
|
|
|
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
|
|
|
|
NM_024426.6(WT1):c.1080A>G (p.Arg360=)
|
|
|
|
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr)
|
rs2132957665
|
|
|
NM_024426.6(WT1):c.1086C>A (p.His362Gln)
|
|
|
|
NM_024426.6(WT1):c.1086C>G (p.His362Gln)
|
rs1421853816
|
|
|
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
|
|
|
|
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
|
|
|
|
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg)
|
rs1852098454
|
|
|
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
|
|
|
|
NM_024426.6(WT1):c.1089G>A (p.Thr363=)
|
rs1564975679
|
|
|
NM_024426.6(WT1):c.1089G>T (p.Thr363=)
|
rs1564975679
|
|
|
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn)
|
rs2132957418
|
|
|
NM_024426.6(WT1):c.108G>A (p.Gln36=)
|
rs2133107241
|
|
|
NM_024426.6(WT1):c.1092C>T (p.His364=)
|
rs587778756
|
|
|
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
|
|
|
|
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
|
|
|
|
NM_024426.6(WT1):c.1094del (p.Gly365fs)
|
rs587776574
|
|
|
NM_024426.6(WT1):c.1096G>A (p.Val366Ile)
|
|
|
|
NM_024426.6(WT1):c.10C>G (p.Leu4Val)
|
|
|
|
NM_024426.6(WT1):c.1105G>A (p.Gly369Ser)
|
|
|
|
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
|
|
|
|
NM_024426.6(WT1):c.1109T>C (p.Ile370Thr)
|
|
|
|
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser)
|
rs1852096499
|
|
|
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
|
|
|
|
NM_024426.6(WT1):c.110G>C (p.Gly37Ala)
|
rs1853477982
|
|
|
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg)
|
rs1852096219
|
|
|
NM_024426.6(WT1):c.1113+10C>T
|
|
|
|
NM_024426.6(WT1):c.1113+13_1113+16del
|
rs781613684
|
|
|
NM_024426.6(WT1):c.1113+14C>T
|
|
|
|
NM_024426.6(WT1):c.1113+18C>A
|
|
|
|
NM_024426.6(WT1):c.1113+3G>A
|
|
|
|
NM_024426.6(WT1):c.1113+5G>C
|
rs930795675
|
|
|
NM_024426.6(WT1):c.1113+7A>G
|
|
|
|
NM_024426.6(WT1):c.1113+8C>T
|
rs2132956703
|
|
|
NM_024426.6(WT1):c.1113+9A>C
|
|
|
|
NM_024426.6(WT1):c.1113+9A>G
|
|
|
|
NM_024426.6(WT1):c.1114-13T>C
|
rs2132942587
|
|
|
NM_024426.6(WT1):c.1114-14C>T
|
|
|
|
NM_024426.6(WT1):c.1114-14CT[2]
|
rs994248697
|
|
|
NM_024426.6(WT1):c.1114-15A>C
|
|
|
|
NM_024426.6(WT1):c.1114-15A>G
|
rs776971636
|
|
|
NM_024426.6(WT1):c.1114-1G>T
|
rs1851976798
|
|
|
NM_024426.6(WT1):c.1114-4G>A
|
rs2132942410
|
|
|
NM_024426.6(WT1):c.1114-6C>T
|
rs2132942429
|
|
|
NM_024426.6(WT1):c.1114-7C>G
|
|
|
|
NM_024426.6(WT1):c.1114-8G>T
|
|
|
|
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
|
|
|
|
NM_024426.6(WT1):c.1119G>A (p.Val373=)
|
rs780497248
|
|
|
NM_024426.6(WT1):c.111A>G (p.Gly37=)
|
|
|
|
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
|
|
|
|
NM_024426.6(WT1):c.1120_1122delinsTGG (p.Arg374Trp)
|
|
|
|
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln)
|
rs2132942126
|
|
|
NM_024426.6(WT1):c.1121_1122insGGGG (p.Arg375fs)
|
rs2132942163
|
|
|
NM_024426.6(WT1):c.1122A>C (p.Arg374=)
|
rs16754
|
|
|
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
|
|
|
|
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
|
|
|
|
NM_024426.6(WT1):c.1123_1124del (p.Arg375fs)
|
|
|
|
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro)
|
rs554416372
|
|
|
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu)
|
rs554416372
|
|
|
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
|
|
|
|
NM_024426.6(WT1):c.1127T>C (p.Val376Ala)
|
rs1180529775
|
|
|
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
|
|
|
|
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
|
|
|
|
NM_024426.6(WT1):c.112G>T (p.Val38Phe)
|
rs1229949294
|
|
|
NM_024426.6(WT1):c.1130C>A (p.Pro377His)
|
rs1590339111
|
|
|
NM_024426.6(WT1):c.1134A>G (p.Gly378=)
|
rs965752073
|
|
|
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp)
|
rs2132941654
|
|
|
NM_024426.6(WT1):c.1139C>T (p.Ala380Val)
|
rs2132941654
|
|
|
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
|
|
|
|
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
|
|
|
|
NM_024426.6(WT1):c.1142del (p.Pro381fs)
|
rs1564972993
|
|
|
NM_024426.6(WT1):c.1143G>A (p.Pro381=)
|
rs1554939849
|
|
|
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
|
|
|
|
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala)
|
rs1851973152
|
|
|
NM_024426.6(WT1):c.1144_1145insGC (p.Thr382fs)
|
|
|
|
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile)
|
rs2132941453
|
|
|
NM_024426.6(WT1):c.1146T>C (p.Thr382=)
|
rs371168589
|
|
|
NM_024426.6(WT1):c.1147_1148del (p.Leu383fs)
|
|
|
|
NM_024426.6(WT1):c.1149del (p.Val384fs)
|
rs1554939839
|
|
|
NM_024426.6(WT1):c.114C>G (p.Val38=)
|
|
|
|
NM_024426.6(WT1):c.1152A>G (p.Val384=)
|
rs2132941316
|
|
|
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro)
|
rs147241955
|
|
|
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu)
|
rs147241955
|
|
|
NM_024426.6(WT1):c.1155G>A (p.Arg385=)
|
rs776651253
|
|
|
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
|
|
|
|
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr)
|
rs1412336417
|
|
|
NM_024426.6(WT1):c.1161A>T (p.Ala387=)
|
rs141834493
|
|
|
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro)
|
rs992930804
|
|
|
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
|
|
|
|
NM_024426.6(WT1):c.1164T>C (p.Ser388=)
|
|
|
|
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
|
|
|
|
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
|
|
|
|
NM_024426.6(WT1):c.1170C>G (p.Thr390=)
|
|
|
|
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
|
|
|
|
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
|
|
|
|
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys)
|
rs1851970123
|
|
|
NM_024426.6(WT1):c.117G>T (p.Arg39=)
|
|
|
|
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys)
|
rs1564972874
|
|
|
NM_024426.6(WT1):c.1181G>T (p.Arg394Leu)
|
|
|
|
NM_024426.6(WT1):c.1182C>G (p.Arg394=)
|
rs147939483
|
|
|
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr)
|
rs267602850
|
|
|
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu)
|
rs1851969544
|
|
|
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu)
|
rs200539928
|
|
|
NM_024426.6(WT1):c.1188C>T (p.Phe396=)
|
rs200539928
|
|
|
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
|
|
|
|
NM_024426.6(WT1):c.118G>C (p.Asp40His)
|
rs1853477193
|
|
|
NM_024426.6(WT1):c.118del (p.Asp40fs)
|
rs2133107122
|
|
|
NM_024426.6(WT1):c.1190T>C (p.Met397Thr)
|
rs2132940385
|
|
|
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
|
|
|
|
NM_024426.6(WT1):c.1191G>A (p.Met397Ile)
|
rs2132940348
|
|
|
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser)
|
rs2132940315
|
|
|
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly)
|
rs1590338798
|
|
|
NM_024426.6(WT1):c.1196C>T (p.Ala399Val)
|
rs1590338798
|
|
|
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
|
|
|
|
NM_024426.6(WT1):c.1200C>T (p.Tyr400=)
|
rs886048227
|
|
|
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
|
|
|
|
NM_024426.6(WT1):c.1206C>G (p.Gly402=)
|
rs2132940083
|
|
|
NM_024426.6(WT1):c.1207T>G (p.Cys403Gly)
|
|
|
|
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser)
|
rs748864758
|
|
|
NM_024426.6(WT1):c.1215G>A (p.Lys405=)
|
rs2132939936
|
|
|
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys)
|
rs1851967853
|
|
|
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)
|
rs1554939793
|
|
|
NM_024426.6(WT1):c.1218A>T (p.Arg406Ser)
|
|
|
|
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
|
|
|
|
NM_024426.6(WT1):c.121C>G (p.Pro41Ala)
|
rs926668379
|
|
|
NM_024426.6(WT1):c.1224T>C (p.Phe408=)
|
|
|
|
NM_024426.6(WT1):c.1227G>A (p.Lys409=)
|
rs1554939791
|
|
|
NM_024426.6(WT1):c.1230G>A (p.Leu410=)
|
rs1851967232
|
|
|
NM_024426.6(WT1):c.1233C>A (p.Ser411=)
|
|
|
|
NM_024426.6(WT1):c.1233C>G (p.Ser411=)
|
|
|
|
NM_024426.6(WT1):c.123G>A (p.Pro41=)
|
rs555140661
|
|
|
NM_024426.6(WT1):c.1240C>T (p.Gln414Ter)
|
rs2132939500
|
|
|
NM_024426.6(WT1):c.1244T>A (p.Met415Lys)
|
|
|
|
NM_024426.6(WT1):c.1244T>G (p.Met415Arg)
|
|
|
|
NM_024426.6(WT1):c.1245dup (p.His416fs)
|
rs2132939399
|
|
|
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
|
|
|
|
NM_024426.6(WT1):c.1250G>A (p.Ser417Asn)
|
|
|
|
NM_024426.6(WT1):c.1259A>T (p.His420Leu)
|
|
|
|
NM_024426.6(WT1):c.1260C>T (p.His420=)
|
rs1554939784
|
|
|
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
|
|
|
|
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
|
|
|
|
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
|
|
|
|
NM_024426.6(WT1):c.1264+15T>C
|
|
|
|
NM_024426.6(WT1):c.1264+16G>C
|
|
|
|
NM_024426.6(WT1):c.1264+20A>T
|
rs1227250951
|
|
|
NM_024426.6(WT1):c.1264+3A>G
|
|
|
|
NM_024426.6(WT1):c.1264+5G>C
|
|
|
|
NM_024426.6(WT1):c.1264+6T>A
|
rs1366602349
|
|
|
NM_024426.6(WT1):c.1264+9G>A
|
rs2132938978
|
|
|
NM_024426.6(WT1):c.1265-10C>G
|
|
|
|
NM_024426.6(WT1):c.1265-12G>C
|
rs2132921730
|
|
|
NM_024426.6(WT1):c.1265-15T>C
|
rs933629326
|
|
|
NM_024426.6(WT1):c.1265-16_1265-15del
|
rs1447574915
|
|
|
NM_024426.6(WT1):c.1265-18A>G
|
|
|
|
NM_024426.6(WT1):c.1265-4C>T
|
rs918343735
|
|
|
NM_024426.6(WT1):c.1265-6C>T
|
rs1590332639
|
|
|
NM_024426.6(WT1):c.1265G>A (p.Gly422Asp)
|
|
|
|
NM_024426.6(WT1):c.126C>A (p.Gly42=)
|
|
|
|
NM_024426.6(WT1):c.126C>T (p.Gly42=)
|
rs1853476071
|
|
|
NM_024426.6(WT1):c.1274C>A (p.Pro425Gln)
|
|
|
|
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg)
|
rs2132921474
|
|
|
NM_024426.6(WT1):c.1275A>G (p.Pro425=)
|
rs2132921460
|
|
|
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
|
|
|
|
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
|
|
|
|
NM_024426.6(WT1):c.127G>T (p.Gly43Cys)
|
rs1166553415
|
|
|
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro)
|
rs1358408901
|
|
|
NM_024426.6(WT1):c.1281G>T (p.Gln427His)
|
|
|
|
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
|
|
|
|
NM_024426.6(WT1):c.1287C>T (p.Asp429=)
|
|
|
|
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
|
|
|
|
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
|
|
|
|
NM_024426.6(WT1):c.1293G>A (p.Lys431=)
|
|
|
|
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)
|
rs121907905
|
|
|
NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)
|
|
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
|
NM_024426.6(WT1):c.1305A>G (p.Arg435=)
|
|
|
|
NM_024426.6(WT1):c.1306A>C (p.Arg436=)
|
|
|
|
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys)
|
rs2132920559
|
|
|
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys)
|
rs2132920415
|
|
|
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)
|
rs121907910
|
|
|
NM_024426.6(WT1):c.1316G>A (p.Arg439His)
|
rs121907901
|
|
|
NM_024426.6(WT1):c.1320A>G (p.Ser440=)
|
|
|
|
NM_024426.6(WT1):c.1324C>A (p.Gln442Lys)
|
|
|
|
NM_024426.6(WT1):c.1329C>A (p.Leu443=)
|
|
|
|
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg)
|
rs1851852482
|
|
|
NM_024426.6(WT1):c.1332A>G (p.Lys444=)
|
rs1319380075
|
|
|
NM_024426.6(WT1):c.1338C>A (p.His446Gln)
|
rs121907907
|
|
|
NM_024426.6(WT1):c.1338C>G (p.His446Gln)
|
rs121907907
|
|
|
NM_024426.6(WT1):c.133T>G (p.Trp45Gly)
|
rs1186470250
|
|
|
NM_024426.6(WT1):c.1341A>C (p.Gln447His)
|
rs772822466
|
|
|
NM_024426.6(WT1):c.1341A>G (p.Gln447=)
|
rs772822466
|
|
|
NM_024426.6(WT1):c.1344G>A (p.Arg448=)
|
rs1236598690
|
|
|
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
|
|
|
|
NM_024426.6(WT1):c.1345A>C (p.Arg449=)
|
rs2132919527
|
|
|
NM_024426.6(WT1):c.1345A>G (p.Arg449Gly)
|
|
|
|
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)
|
rs28942089
|
|
|
NM_024426.6(WT1):c.1350T>C (p.His450=)
|
|
|
|
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
|
|
|
|
NM_024426.6(WT1):c.1354+10T>C
|
rs2132919152
|
|
|
NM_024426.6(WT1):c.1354+12C>T
|
|
|
|
NM_024426.6(WT1):c.1354+14C>T
|
|
|
|
NM_024426.6(WT1):c.1354+15T>G
|
rs747790701
|
|
|
NM_024426.6(WT1):c.1354+19C>T
|
rs2132918999
|
|
|
NM_024426.6(WT1):c.1354+20A>G
|
|
|
|
NM_024426.6(WT1):c.1354+2T>C
|
|
|
|
NM_024426.6(WT1):c.1354+9G>A
|
rs765187288
|
|
|
NM_024426.6(WT1):c.1355-10G>A
|
|
|
|
NM_024426.6(WT1):c.1355-10G>C
|
rs1590331597
|
|
|
NM_024426.6(WT1):c.1355-19A>T
|
|
|
|
NM_024426.6(WT1):c.1355-20G>C
|
|
|
|
NM_024426.6(WT1):c.1355-24_1355-20del
|
|
|
|
NM_024426.6(WT1):c.1355-6A>T
|
|
|
|
NM_024426.6(WT1):c.1355-6_1355-5del
|
|
|
|
NM_024426.6(WT1):c.1355-8C>T
|
rs1851834598
|
|
|
NM_024426.6(WT1):c.1355G>A (p.Gly452Asp)
|
|
|
|
NM_024426.6(WT1):c.1363C>A (p.Pro455Thr)
|
|
|
|
NM_024426.6(WT1):c.136G>A (p.Ala46Thr)
|
rs886048233
|
|
|
NM_024426.6(WT1):c.136G>T (p.Ala46Ser)
|
rs886048233
|
|
|
NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)
|
|
|
|
NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)
|
|
|
|
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser)
|
rs2132915129
|
|
|
NM_024426.6(WT1):c.1374del (p.Gln457_Cys458insTer)
|
|
|
|
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg)
|
rs1851834162
|
|
|
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
|
|
|
|
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
|
|
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
|
NM_024426.6(WT1):c.1389A>G (p.Arg463=)
|
rs1851833175
|
|
|
NM_024426.6(WT1):c.1389A>T (p.Arg463=)
|
|
|
|
NM_024426.6(WT1):c.138C>A (p.Ala46=)
|
rs2133106888
|
|
|
NM_024426.6(WT1):c.1395C>T (p.Phe465=)
|
rs1430665640
|
|
|
NM_024426.6(WT1):c.1397C>T (p.Ser466Phe)
|
|
|
|
NM_024426.6(WT1):c.1398C>G (p.Ser466=)
|
rs2132914513
|
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
|
NM_024426.6(WT1):c.13T>C (p.Leu5=)
|
|
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
|
NM_024426.6(WT1):c.1401G>A (p.Arg467=)
|
rs2132914457
|
|
|
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)
|
rs121907902
|
|
|
NM_024426.6(WT1):c.1407C>T (p.Asp469=)
|
|
|
|
NM_024426.6(WT1):c.1408C>T (p.His470Tyr)
|
rs1554939072
|
|
|
NM_024426.6(WT1):c.1411C>T (p.Leu471=)
|
rs1851831198
|
|
|
NM_024426.6(WT1):c.1419C>G (p.Thr473=)
|
|
|
|
NM_024426.6(WT1):c.1422C>T (p.His474=)
|
rs1554939066
|
|
|
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
|
|
|
|
NM_024426.6(WT1):c.1425C>G (p.Thr475=)
|
rs2132913876
|
|
|
NM_024426.6(WT1):c.1425C>T (p.Thr475=)
|
|
|
|
NM_024426.6(WT1):c.1426A>C (p.Arg476=)
|
rs2132913863
|
|
|
NM_024426.6(WT1):c.1426del (p.Arg476fs)
|
|
|
|
NM_024426.6(WT1):c.1428G>A (p.Arg476=)
|
|
|
|
NM_024426.6(WT1):c.1433A>G (p.His478Arg)
|
|
|
|
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
|
|
|
|
NM_024426.6(WT1):c.143T>C (p.Leu48Ser)
|
rs1565002394
|
|
|
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
|
|
|
|
NM_024426.6(WT1):c.1447+13T>C
|
rs2132913405
|
|
|
NM_024426.6(WT1):c.1447+13_1447+14del
|
|
|
|
NM_024426.6(WT1):c.1447+15C>T
|
|
|
|
NM_024426.6(WT1):c.1447+16_1447+18del
|
rs1235706040
|
|
|
NM_024426.6(WT1):c.1447+19A>G
|
rs2132913356
|
|
|
NM_024426.6(WT1):c.1447+2T>C
|
rs1851829439
|
|
|
NM_024426.6(WT1):c.1447+3G>A
|
rs2132913499
|
|
|
NM_024426.6(WT1):c.1447+4C>A
|
|
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
|
NM_024426.6(WT1):c.1447+7A>G
|
rs2132913455
|
|
|
NM_024426.6(WT1):c.1448-10G>A
|
rs185744719
|
|
|
NM_024426.6(WT1):c.1448-10G>T
|
rs185744719
|
|
|
NM_024426.6(WT1):c.1448-13A>G
|
|
|
|
NM_024426.6(WT1):c.1448-13A>T
|
rs768449767
|
|
|
NM_024426.6(WT1):c.1448-18T>C
|
|
|
|
NM_024426.6(WT1):c.1448-18T>G
|
|
|
|
NM_024426.6(WT1):c.1448-19C>A
|
|
|
|
NM_024426.6(WT1):c.1448-2A>G
|
|
|
|
NM_024426.6(WT1):c.1448-3C>A
|
rs904330511
|
|
|
NM_024426.6(WT1):c.1448-3C>T
|
|
|
|
NM_024426.6(WT1):c.1448-6C>G
|
|
|
|
NM_024426.6(WT1):c.1448-9T>C
|
rs1590326385
|
|
|
NM_024426.6(WT1):c.1449T>C (p.Ser483=)
|
rs2132900047
|
|
|
NM_024426.6(WT1):c.1458C>T (p.Pro486=)
|
|
|
|
NM_024426.6(WT1):c.145G>A (p.Gly49Ser)
|
|
|
|
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)
|
rs267602849
|
|
|
NM_024426.6(WT1):c.1464C>T (p.Ser488=)
|
rs1590326329
|
|
|
NM_024426.6(WT1):c.1467T>C (p.Cys489=)
|
rs2132899651
|
|
|
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp)
|
rs1315549918
|
|
|
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser)
|
rs761360324
|
|
|
NM_024426.6(WT1):c.1476A>G (p.Pro492=)
|
rs2132899419
|
|
|
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg)
|
rs776256676
|
|
|
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn)
|
rs763551837
|
|
|
NM_024426.6(WT1):c.1479T>C (p.Ser493=)
|
rs1334930117
|
|
|
NM_024426.6(WT1):c.147C>A (p.Gly49=)
|
rs2133106795
|
|
|
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
|
|
|
|
NM_024426.6(WT1):c.1488A>G (p.Lys496=)
|
|
|
|
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly)
|
rs2132898997
|
|
|
NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)
|
|
|
|
NM_024426.6(WT1):c.1498del (p.Arg500fs)
|
|
|
|
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)
|
rs1590326226
|
|
|
NM_024426.6(WT1):c.1500G>C (p.Arg500=)
|
rs2132898861
|
|
|
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
|
|
|
|
NM_024426.6(WT1):c.150C>A (p.Ala50=)
|
rs1554946724
|
|
|
NM_024426.6(WT1):c.150C>T (p.Ala50=)
|
rs1554946724
|
|
|
NM_024426.6(WT1):c.150del (p.Ala51fs)
|
rs2133106747
|
|
|
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
|
|
|
|
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
|
|
|
|
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
|
|
|
|
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu)
|
rs1851744303
|
|
|
NM_024426.6(WT1):c.1518C>G (p.Arg506=)
|
|
|
|
NM_024426.6(WT1):c.1519del (p.His507fs)
|
|
|
|
NM_024426.6(WT1):c.151G>A (p.Ala51Thr)
|
rs1853473868
|
|
|
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn)
|
rs2133106703
|
|
|
NM_024426.6(WT1):c.1524C>A (p.His508Gln)
|
rs1451629862
|
|
|
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile)
|
rs2132898041
|
|
|
NM_024426.6(WT1):c.1528A>G (p.Met510Val)
|
rs1554938534
|
|
|
NM_024426.6(WT1):c.1529T>A (p.Met510Lys)
|
rs1851743827
|
|
|
NM_024426.6(WT1):c.152C>A (p.Ala51Asp)
|
|
|
|
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr)
|
rs1363144688
|
|
|
NM_024426.6(WT1):c.153C>A (p.Ala51=)
|
|
|
|
NM_024426.6(WT1):c.153C>T (p.Ala51=)
|
rs1590411186
|
|
|
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
|
|
|
|
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser)
|
rs1554938531
|
|
|
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile)
|
rs1554938531
|
|
|
NM_024426.6(WT1):c.1545G>A (p.Met515Ile)
|
rs2132897547
|
|
|
NM_024426.6(WT1):c.1548C>T (p.Thr516=)
|
|
|
|
NM_024426.6(WT1):c.1551A>G (p.Lys517=)
|
|
|
|
NM_024426.6(WT1):c.1557G>A (p.Gln519=)
|
rs2132897298
|
|
|
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro)
|
rs1851742668
|
|
|
NM_024426.6(WT1):c.1563G>C (p.Ala521=)
|
|
|
|
NM_024426.6(WT1):c.1563G>T (p.Ala521=)
|
rs202118284
|
|
|
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp)
|
rs1851742229
|
|
|
NM_024426.6(WT1):c.158C>G (p.Ala53Gly)
|
|
|
|
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
|
|
|
|
NM_024426.6(WT1):c.162C>A (p.Ser54Arg)
|
rs776954184
|
|
|
NM_024426.6(WT1):c.162C>T (p.Ser54=)
|
|
|
|
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
|
|
|
|
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
|
|
|
|
NM_024426.6(WT1):c.164C>T (p.Ala55Val)
|
|
|
|
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val)
|
rs2133106545
|
|
|
NM_024426.6(WT1):c.165T>G (p.Ala55=)
|
|
|
|
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
|
|
|
|
NM_024426.6(WT1):c.168A>G (p.Glu56=)
|
|
|
|
NM_024426.6(WT1):c.169C>A (p.Arg57Ser)
|
rs961526551
|
|
|
NM_024426.6(WT1):c.169C>G (p.Arg57Gly)
|
rs961526551
|
|
|
NM_024426.6(WT1):c.16C>T (p.Leu6=)
|
|
|
|
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
|
|
|
|
NM_024426.6(WT1):c.170G>A (p.Arg57His)
|
rs1011628259
|
|
|
NM_024426.6(WT1):c.170G>T (p.Arg57Leu)
|
rs1011628259
|
|
|
NM_024426.6(WT1):c.172C>T (p.Leu58Phe)
|
rs1412425868
|
|
|
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
|
|
|
|
NM_024426.6(WT1):c.174C>G (p.Leu58=)
|
rs886048232
|
|
|
NM_024426.6(WT1):c.176A>G (p.Gln59Arg)
|
rs2133106426
|
|
|
NM_024426.6(WT1):c.177G>A (p.Gln59=)
|
rs1311704660
|
|
|
NM_024426.6(WT1):c.177G>C (p.Gln59His)
|
rs1311704660
|
|
|
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
|
|
|
|
NM_024426.6(WT1):c.181C>G (p.Arg61Gly)
|
|
|
|
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
|
|
|
|
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
|
|
|
|
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
|
|
|
|
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
|
|
|
|
NM_024426.6(WT1):c.185G>A (p.Arg62Lys)
|
rs1295712217
|
|
|
NM_024426.6(WT1):c.189C>A (p.Ser63Arg)
|
rs1215127008
|
|
|
NM_024426.6(WT1):c.189C>T (p.Ser63=)
|
rs1215127008
|
|
|
NM_024426.6(WT1):c.191G>A (p.Arg64His)
|
rs1853471149
|
|
|
NM_024426.6(WT1):c.191G>T (p.Arg64Leu)
|
|
|
|
NM_024426.6(WT1):c.193G>T (p.Gly65Trp)
|
rs374404615
|
|
|
NM_024426.6(WT1):c.194G>A (p.Gly65Glu)
|
rs1853470727
|
|
|
NM_024426.6(WT1):c.196G>A (p.Ala66Thr)
|
rs1590410967
|
|
|
NM_024426.6(WT1):c.196del (p.Ala66fs)
|
|
|
|
NM_024426.6(WT1):c.197C>A (p.Ala66Glu)
|
rs1341675324
|
|
|
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
|
|
|
|
NM_024426.6(WT1):c.198G>A (p.Ala66=)
|
rs955105743
|
|
|
NM_024426.6(WT1):c.19C>A (p.Gln7Lys)
|
rs2133108011
|
|
|
NM_024426.6(WT1):c.19C>T (p.Gln7Ter)
|
rs2133108011
|
|
|
NM_024426.6(WT1):c.200C>T (p.Ser67Phe)
|
rs1327516147
|
|
|
NM_024426.6(WT1):c.201C>G (p.Ser67=)
|
|
|
|
NM_024426.6(WT1):c.201C>T (p.Ser67=)
|
rs771769393
|
|
|
NM_024426.6(WT1):c.202G>C (p.Gly68Arg)
|
rs1353446740
|
|
|
NM_024426.6(WT1):c.203G>A (p.Gly68Glu)
|
rs1170323988
|
|
|
NM_024426.6(WT1):c.204G>A (p.Gly68=)
|
rs1554946680
|
|
|
NM_024426.6(WT1):c.210G>C (p.Glu70Asp)
|
rs745506215
|
|
|
NM_024426.6(WT1):c.211C>T (p.Pro71Ser)
|
rs1392405207
|
|
|
NM_024426.6(WT1):c.215A>T (p.Gln72Leu)
|
rs2133106001
|
|
|
NM_024426.6(WT1):c.216G>A (p.Gln72=)
|
|
|
|
NM_024426.6(WT1):c.216G>C (p.Gln72His)
|
rs5030135
|
|
|
NM_024426.6(WT1):c.219A>G (p.Gln73=)
|
|
|
|
NM_024426.6(WT1):c.220A>G (p.Met74Val)
|
|
|
|
NM_024426.6(WT1):c.225C>A (p.Gly75=)
|
rs1590410808
|
|
|
NM_024426.6(WT1):c.225C>G (p.Gly75=)
|
rs1590410808
|
|
|
NM_024426.6(WT1):c.225C>T (p.Gly75=)
|
rs1590410808
|
|
|
NM_024426.6(WT1):c.225del (p.Ser76fs)
|
|
|
|
NM_024426.6(WT1):c.228C>G (p.Ser76=)
|
|
|
|
NM_024426.6(WT1):c.228C>T (p.Ser76=)
|
rs2133105899
|
|
|
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
|
|
|
|
NM_024426.6(WT1):c.231C>T (p.Asp77=)
|
rs1193574882
|
|
|
NM_024426.6(WT1):c.232G>A (p.Val78Met)
|
rs1590410789
|
|
|
NM_024426.6(WT1):c.236G>A (p.Arg79Gln)
|
rs1853467176
|
|
|
NM_024426.6(WT1):c.237G>A (p.Arg79=)
|
|
|
|
NM_024426.6(WT1):c.237G>C (p.Arg79=)
|
rs1590410776
|
|
|
NM_024426.6(WT1):c.238G>C (p.Asp80His)
|
|
|
|
NM_024426.6(WT1):c.239A>G (p.Asp80Gly)
|
|
|
|
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
|
|
|
|
NM_024426.6(WT1):c.240C>G (p.Asp80Glu)
|
rs2133105820
|
|
|
NM_024426.6(WT1):c.241C>A (p.Leu81Met)
|
rs777617460
|
|
|
NM_024426.6(WT1):c.241C>T (p.Leu81=)
|
rs777617460
|
|
|
NM_024426.6(WT1):c.242T>G (p.Leu81Arg)
|
rs2133105795
|
|
|
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
|
|
|
|
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
|
|
|
|
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
|
|
|
|
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
|
|
|
|
NM_024426.6(WT1):c.247G>C (p.Ala83Pro)
|
rs886048231
|
|
|
NM_024426.6(WT1):c.247G>T (p.Ala83Ser)
|
rs886048231
|
|
|
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
|
|
|
|
NM_024426.6(WT1):c.249G>A (p.Ala83=)
|
rs1233220797
|
|
|
NM_024426.6(WT1):c.249G>T (p.Ala83=)
|
|
|
|
NM_024426.6(WT1):c.24C>A (p.Asp8Glu)
|
rs1393437791
|
|
|
NM_024426.6(WT1):c.24C>G (p.Asp8Glu)
|
rs1393437791
|
|
|
NM_024426.6(WT1):c.24C>T (p.Asp8=)
|
|
|
|
NM_024426.6(WT1):c.250C>T (p.Leu84=)
|
rs756055892
|
|
|
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
|
|
|
|
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
|
|
|
|
NM_024426.6(WT1):c.258C>A (p.Pro86=)
|
rs1389359790
|
|
|
NM_024426.6(WT1):c.259G>A (p.Ala87Thr)
|
rs752686863
|
|
|
NM_024426.6(WT1):c.25C>A (p.Pro9Thr)
|
rs1314273962
|
|
|
NM_024426.6(WT1):c.25C>G (p.Pro9Ala)
|
|
|
|
NM_024426.6(WT1):c.261C>A (p.Ala87=)
|
|
|
|
NM_024426.6(WT1):c.261C>G (p.Ala87=)
|
|
|
|
NM_024426.6(WT1):c.261C>T (p.Ala87=)
|
rs1298313010
|
|
|
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
|
|
|
|
NM_024426.6(WT1):c.262G>T (p.Val88Phe)
|
rs1410971862
|
|
|
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
|
|
|
|
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
|
|
|
|
NM_024426.6(WT1):c.266C>G (p.Pro89Arg)
|
|
|
|
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
|
|
|
|
NM_024426.6(WT1):c.267C>T (p.Pro89=)
|
rs1172336462
|
|
|
NM_024426.6(WT1):c.268T>C (p.Ser90Pro)
|
rs1590410623
|
|
|
NM_024426.6(WT1):c.269C>T (p.Ser90Phe)
|
rs1853464700
|
|
|
NM_024426.6(WT1):c.26C>G (p.Pro9Arg)
|
rs948132360
|
|
|
NM_024426.6(WT1):c.270C>G (p.Ser90=)
|
|
|
|
NM_024426.6(WT1):c.270C>T (p.Ser90=)
|
rs766441234
|
|
|
NM_024426.6(WT1):c.271C>T (p.Leu91=)
|
|
|
|
NM_024426.6(WT1):c.275G>A (p.Gly92Asp)
|
|
|
|
NM_024426.6(WT1):c.275dup (p.Gly93fs)
|
|
|
|
NM_024426.6(WT1):c.276del (p.Gly93fs)
|
rs2133105444
|
|
|
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del)
|
rs770519620
|
|
|
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup)
|
rs770519620
|
|
|
NM_024426.6(WT1):c.278G>A (p.Gly93Asp)
|
rs1590410578
|
|
|
NM_024426.6(WT1):c.279C>A (p.Gly93=)
|
rs1590410564
|
|
|
NM_024426.6(WT1):c.279C>T (p.Gly93=)
|
rs1590410564
|
|
|
NM_024426.6(WT1):c.280G>A (p.Gly94Ser)
|
rs758512604
|
|
|
NM_024426.6(WT1):c.282C>T (p.Gly94=)
|
rs1565001990
|
|
|
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
|
|
|
|
NM_024426.6(WT1):c.285C>T (p.Gly95=)
|
rs886048230
|
|
|
NM_024426.6(WT1):c.286G>T (p.Gly96Cys)
|
rs1060501254
|
|
|
NM_024426.6(WT1):c.287G>T (p.Gly96Val)
|
|
|
|
NM_024426.6(WT1):c.287_288insGGA (p.Gly96_Cys97insAsp)
|
|
|
|
NM_024426.6(WT1):c.288C>G (p.Gly96=)
|
|
|
|
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
|
|
|
|
NM_024426.6(WT1):c.289T>C (p.Cys97Arg)
|
rs1383360383
|
|
|
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
|
|
|
|
NM_024426.6(WT1):c.28G>T (p.Ala10Ser)
|
rs1351753257
|
|
|
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile)
|
rs1554946803
|
|
|
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)
|
rs1554946803
|
|
|
NM_024426.6(WT1):c.290G>C (p.Cys97Ser)
|
rs1853462998
|
|
|
NM_024426.6(WT1):c.291T>C (p.Cys97=)
|
rs750588084
|
|
|
NM_024426.6(WT1):c.293C>G (p.Ala98Gly)
|
rs1853462729
|
|
|
NM_024426.6(WT1):c.293C>T (p.Ala98Val)
|
rs1853462729
|
|
|
NM_024426.6(WT1):c.294C>T (p.Ala98=)
|
rs887998910
|
|
|
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
|
|
|
|
NM_024426.6(WT1):c.296T>A (p.Leu99Gln)
|
rs1565001942
|
|
|
NM_024426.6(WT1):c.296T>C (p.Leu99Pro)
|
rs1565001942
|
|
|
NM_024426.6(WT1):c.298C>A (p.Pro100Thr)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.298C>G (p.Pro100Ala)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.298C>T (p.Pro100Ser)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
|
|
|
|
NM_024426.6(WT1):c.29C>A (p.Ala10Asp)
|
rs997104313
|
|
|
NM_024426.6(WT1):c.301G>C (p.Val101Leu)
|
rs1853461708
|
|
|
NM_024426.6(WT1):c.303G>A (p.Val101=)
|
|
|
|
NM_024426.6(WT1):c.305G>A (p.Ser102Asn)
|
rs1210117032
|
|
|
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
|
|
|
|
NM_024426.6(WT1):c.307G>T (p.Gly103Cys)
|
rs1348287926
|
|
|
NM_024426.6(WT1):c.310G>A (p.Ala104Thr)
|
rs1853461168
|
|
|
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
|
|
|
|
NM_024426.6(WT1):c.312G>A (p.Ala104=)
|
rs1590410376
|
|
|
NM_024426.6(WT1):c.312G>T (p.Ala104=)
|
|
|
|
NM_024426.6(WT1):c.313G>T (p.Ala105Ser)
|
rs1236417259
|
|
|
NM_024426.6(WT1):c.314C>A (p.Ala105Glu)
|
rs948061247
|
|
|
NM_024426.6(WT1):c.314_318dup (p.Trp107fs)
|
rs2133104877
|
|
|
NM_024426.6(WT1):c.315G>A (p.Ala105=)
|
rs1554946607
|
|
|
NM_024426.6(WT1):c.315G>T (p.Ala105=)
|
rs1554946607
|
|
|
NM_024426.6(WT1):c.318G>A (p.Gln106=)
|
|
|
|
NM_024426.6(WT1):c.319T>G (p.Trp107Gly)
|
rs1853460114
|
|
|
NM_024426.6(WT1):c.320G>T (p.Trp107Leu)
|
rs1009810769
|
|
|
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
|
|
|
|
NM_024426.6(WT1):c.324G>A (p.Ala108=)
|
rs1229643010
|
|
|
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
|
|
|
|
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
|
|
|
|
NM_024426.6(WT1):c.326C>A (p.Pro109Gln)
|
rs1853459569
|
|
|
NM_024426.6(WT1):c.327G>A (p.Pro109=)
|
|
|
|
NM_024426.6(WT1):c.328G>T (p.Val110Leu)
|
|
|
|
NM_024426.6(WT1):c.329T>C (p.Val110Ala)
|
rs1853459284
|
|
|
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
|
|
|
|
NM_024426.6(WT1):c.330G>A (p.Val110=)
|
|
|
|
NM_024426.6(WT1):c.331C>T (p.Leu111=)
|
rs2133104719
|
|
|
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_024426.6(WT1):c.334del (p.Asp112fs)
|
rs1554946600
|
|
|
NM_024426.6(WT1):c.336C>T (p.Asp112=)
|
rs2133104640
|
|
|
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
|
|
|
|
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
|
|
|
|
NM_024426.6(WT1):c.339T>C (p.Phe113=)
|
rs2133104617
|
|
|
NM_024426.6(WT1):c.33C>A (p.Ser11=)
|
|
|
|
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro)
|
rs2133107830
|
|
|
NM_024426.6(WT1):c.340G>A (p.Ala114Thr)
|
rs1590410300
|
|
|
NM_024426.6(WT1):c.341C>T (p.Ala114Val)
|
rs1311557029
|
|
|
NM_024426.6(WT1):c.342G>C (p.Ala114=)
|
rs1414764839
|
|
|
NM_024426.6(WT1):c.342G>T (p.Ala114=)
|
rs1414764839
|
|
|
NM_024426.6(WT1):c.343C>A (p.Pro115Thr)
|
rs916583720
|
|
|
NM_024426.6(WT1):c.344C>A (p.Pro115His)
|
rs1565001804
|
|
|
NM_024426.6(WT1):c.344C>T (p.Pro115Leu)
|
|
|
|
NM_024426.6(WT1):c.346C>A (p.Pro116Thr)
|
rs1554946595
|
|
|
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
|
|
|
|
NM_024426.6(WT1):c.347C>T (p.Pro116Leu)
|
rs886048229
|
|
|
NM_024426.6(WT1):c.348G>C (p.Pro116=)
|
|
|
|
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
|
|
|
|
NM_024426.6(WT1):c.350del (p.Gly117fs)
|
|
|
|
NM_024426.6(WT1):c.351C>A (p.Gly117=)
|
|
|
|
NM_024426.6(WT1):c.351C>T (p.Gly117=)
|
rs1473590912
|
|
|
NM_024426.6(WT1):c.352G>A (p.Ala118Thr)
|
rs1253163678
|
|
|
NM_024426.6(WT1):c.356C>G (p.Ser119Trp)
|
rs1853456180
|
|
|
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
|
|
|
|
NM_024426.6(WT1):c.357G>T (p.Ser119=)
|
|
|
|
NM_024426.6(WT1):c.358G>A (p.Ala120Thr)
|
rs1590410151
|
|
|
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
|
|
|
|
NM_024426.6(WT1):c.35C>T (p.Thr12Met)
|
rs2133107793
|
|
|
NM_024426.6(WT1):c.361T>C (p.Tyr121His)
|
|
|
|
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)
|
|
|
|
NM_024426.6(WT1):c.363C>T (p.Tyr121=)
|
rs977632626
|
|
|
NM_024426.6(WT1):c.366G>T (p.Gly122=)
|
|
|
|
NM_024426.6(WT1):c.367T>G (p.Ser123Ala)
|
|
|
|
NM_024426.6(WT1):c.368C>A (p.Ser123Ter)
|
|
|
|
NM_024426.6(WT1):c.368C>T (p.Ser123Leu)
|
rs2133104248
|
|
|
NM_024426.6(WT1):c.369G>A (p.Ser123=)
|
rs1485992444
|
|
|
NM_024426.6(WT1):c.369G>T (p.Ser123=)
|
rs1485992444
|
|
|
NM_024426.6(WT1):c.36G>A (p.Thr12=)
|
|
|
|
NM_024426.6(WT1):c.36G>C (p.Thr12=)
|
|
|
|
NM_024426.6(WT1):c.370T>C (p.Leu124=)
|
|
|
|
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
|
|
|
|
NM_024426.6(WT1):c.373G>A (p.Gly125Ser)
|
|
|
|
NM_024426.6(WT1):c.376G>A (p.Gly126Ser)
|
rs1853454814
|
|
|
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
|
|
|
|
NM_024426.6(WT1):c.376G>T (p.Gly126Cys)
|
rs1853454814
|
|
|
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
|
|
|
|
NM_024426.6(WT1):c.377G>C (p.Gly126Ala)
|
rs2133104145
|
|
|
NM_024426.6(WT1):c.378C>T (p.Gly126=)
|
|
|
|
NM_024426.6(WT1):c.379C>A (p.Pro127Thr)
|
rs1554946578
|
|
|
NM_024426.6(WT1):c.379C>G (p.Pro127Ala)
|
|
|
|
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
|
|
|
|
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
|
|
|
|
NM_024426.6(WT1):c.381C>A (p.Pro127=)
|
rs771681406
|
|
|
NM_024426.6(WT1):c.381C>T (p.Pro127=)
|
rs771681406
|
|
|
NM_024426.6(WT1):c.382G>A (p.Ala128Thr)
|
rs1853454136
|
|
|
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
|
|
|
|
NM_024426.6(WT1):c.384G>A (p.Ala128=)
|
|
|
|
NM_024426.6(WT1):c.386C>T (p.Pro129Leu)
|
rs745435848
|
|
|
NM_024426.6(WT1):c.387G>T (p.Pro129=)
|
rs1590410053
|
|
|
NM_024426.6(WT1):c.388C>T (p.Pro130Ser)
|
rs1554946573
|
|
|
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
|
|
|
|
NM_024426.6(WT1):c.390A>G (p.Pro130=)
|
rs886048228
|
|
|
NM_024426.6(WT1):c.390_401dup (p.128APPP[3])
|
rs2133103848
|
|
|
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
|
|
|
|
NM_024426.6(WT1):c.391C>T (p.Pro131Ser)
|
rs564706633
|
|
|
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
|
|
|
|
NM_024426.6(WT1):c.393G>A (p.Pro131=)
|
rs1229890218
|
|
|
NM_024426.6(WT1):c.393G>C (p.Pro131=)
|
rs1229890218
|
|
|
NM_024426.6(WT1):c.393G>T (p.Pro131=)
|
rs1229890218
|
|
|
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del)
|
rs1853451296
|
|
|
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup)
|
rs1853451296
|
|
|
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
|
|
|
|
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
|
|
|
|
NM_024426.6(WT1):c.397C>T (p.Pro133Ser)
|
rs1202603651
|
|
|
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
|
|
|
|
NM_024426.6(WT1):c.399G>C (p.Pro133=)
|
|
|
|
NM_024426.6(WT1):c.399G>T (p.Pro133=)
|
rs2133103876
|
|
|
NM_024426.6(WT1):c.400C>T (p.Pro134Ser)
|
rs2133103862
|
|
|
NM_024426.6(WT1):c.401C>A (p.Pro134Gln)
|
|
|
|
NM_024426.6(WT1):c.401C>G (p.Pro134Arg)
|
rs748974419
|
|
|
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
|
|
|
|
NM_024426.6(WT1):c.402G>A (p.Pro134=)
|
rs777527675
|
|
|
NM_024426.6(WT1):c.402G>T (p.Pro134=)
|
|
|
|
NM_024426.6(WT1):c.403C>T (p.Pro135Ser)
|
|
|
|
NM_024426.6(WT1):c.404C>G (p.Pro135Arg)
|
|
|
|
NM_024426.6(WT1):c.405A>G (p.Pro135=)
|
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|
|
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
|
|
|
|
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup)
|
rs1469499452
|
|
|
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del)
|
rs2133103594
|
|
|
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup)
|
rs1853449457
|
|
|
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
|
|
|
|
NM_024426.6(WT1):c.408C>A (p.Pro136=)
|
|
|
|
NM_024426.6(WT1):c.408C>T (p.Pro136=)
|
|
|
|
NM_024426.6(WT1):c.409C>G (p.Pro137Ala)
|
rs1853451078
|
|
|
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
|
|
|
|
NM_024426.6(WT1):c.410C>A (p.Pro137Gln)
|
|
|
|
NM_024426.6(WT1):c.410C>G (p.Pro137Arg)
|
|
|
|
NM_024426.6(WT1):c.410del (p.Pro137fs)
|
|
|
|
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)
|
rs760304811
|
|
|
NM_024426.6(WT1):c.412C>A (p.Pro138Thr)
|
|
|
|
NM_024426.6(WT1):c.413C>A (p.Pro138Gln)
|
rs1853450493
|
|
|
NM_024426.6(WT1):c.413C>G (p.Pro138Arg)
|
rs1853450493
|
|
|
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
|
|
|
|
NM_024426.6(WT1):c.414G>A (p.Pro138=)
|
|
|
|
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
|
|
|
|
NM_024426.6(WT1):c.416C>G (p.Pro139Arg)
|
rs878855085
|
|
|
NM_024426.6(WT1):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_024426.6(WT1):c.417G>T (p.Pro139=)
|
rs758361767
|
|
|
NM_024426.6(WT1):c.420G>T (p.Pro140=)
|
|
|
|
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
|
|
|
|
NM_024426.6(WT1):c.423T>G (p.Pro141=)
|
|
|
|
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
|
|
|
|
NM_024426.6(WT1):c.425A>C (p.His142Pro)
|
rs1565001515
|
|
|
NM_024426.6(WT1):c.425A>T (p.His142Leu)
|
rs1565001515
|
|
|
NM_024426.6(WT1):c.426C>G (p.His142Gln)
|
rs1183359726
|
|
|
NM_024426.6(WT1):c.427T>C (p.Ser143Pro)
|
rs778937284
|
|
|
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
|
|
|
|
NM_024426.6(WT1):c.429C>T (p.Ser143=)
|
rs531076591
|
|
|
NM_024426.6(WT1):c.42C>T (p.Val14=)
|
rs1343194102
|
|
|
NM_024426.6(WT1):c.430_432del (p.Phe144del)
|
|
|
|
NM_024426.6(WT1):c.433A>G (p.Ile145Val)
|
rs2133103410
|
|
|
NM_024426.6(WT1):c.436A>C (p.Lys146Gln)
|
|
|
|
NM_024426.6(WT1):c.437A>G (p.Lys146Arg)
|
|
|
|
NM_024426.6(WT1):c.43C>T (p.Pro15Ser)
|
|
|
|
NM_024426.6(WT1):c.440A>C (p.Gln147Pro)
|
|
|
|
NM_024426.6(WT1):c.441G>A (p.Gln147=)
|
|
|
|
NM_024426.6(WT1):c.443A>G (p.Glu148Gly)
|
|
|
|
NM_024426.6(WT1):c.445C>T (p.Pro149Ser)
|
rs1554946517
|
|
|
NM_024426.6(WT1):c.446C>A (p.Pro149Gln)
|
rs1853447771
|
|
|
NM_024426.6(WT1):c.446C>G (p.Pro149Arg)
|
rs1853447771
|
|
|
NM_024426.6(WT1):c.447G>A (p.Pro149=)
|
|
|
|
NM_024426.6(WT1):c.448A>G (p.Ser150Gly)
|
rs1853447534
|
|
|
NM_024426.6(WT1):c.449G>A (p.Ser150Asn)
|
rs1853447426
|
|
|
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
|
|
|
|
NM_024426.6(WT1):c.44C>T (p.Pro15Leu)
|
rs2133107749
|
|
|
NM_024426.6(WT1):c.450C>A (p.Ser150Arg)
|
rs1213710686
|
|
|
NM_024426.6(WT1):c.450C>T (p.Ser150=)
|
rs1213710686
|
|
|
NM_024426.6(WT1):c.451T>A (p.Trp151Arg)
|
rs1853446972
|
|
|
NM_024426.6(WT1):c.453G>A (p.Trp151Ter)
|
|
|
|
NM_024426.6(WT1):c.455G>A (p.Gly152Asp)
|
rs1853446628
|
|
|
NM_024426.6(WT1):c.455del (p.Gly152fs)
|
rs2133103216
|
|
|
NM_024426.6(WT1):c.456C>A (p.Gly152=)
|
rs2133103187
|
|
|
NM_024426.6(WT1):c.456C>T (p.Gly152=)
|
rs2133103187
|
|
|
NM_024426.6(WT1):c.45G>A (p.Pro15=)
|
rs1158182061
|
|
|
NM_024426.6(WT1):c.460G>A (p.Ala154Thr)
|
|
|
|
NM_024426.6(WT1):c.462G>A (p.Ala154=)
|
rs2133103125
|
|
|
NM_024426.6(WT1):c.463G>A (p.Glu155Lys)
|
rs1853446395
|
|
|
NM_024426.6(WT1):c.465G>A (p.Glu155=)
|
rs1590409614
|
|
|
NM_024426.6(WT1):c.466C>T (p.Pro156Ser)
|
rs1353428791
|
|
|
NM_024426.6(WT1):c.467C>A (p.Pro156Gln)
|
rs1225927150
|
|
|
NM_024426.6(WT1):c.467C>T (p.Pro156Leu)
|
rs1225927150
|
|
|
NM_024426.6(WT1):c.468G>A (p.Pro156=)
|
rs961309280
|
|
|
NM_024426.6(WT1):c.46G>A (p.Glu16Lys)
|
rs2133107724
|
|
|
NM_024426.6(WT1):c.471C>A (p.His157Gln)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.471C>G (p.His157Gln)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.471C>T (p.His157=)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.472G>A (p.Glu158Lys)
|
rs1565001383
|
|
|
NM_024426.6(WT1):c.472G>C (p.Glu158Gln)
|
rs1565001383
|
|
|
NM_024426.6(WT1):c.474G>A (p.Glu158=)
|
rs997224171
|
|
|
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
|
|
|
|
NM_024426.6(WT1):c.477G>A (p.Glu159=)
|
rs2133102935
|
|
|
NM_024426.6(WT1):c.477G>C (p.Glu159Asp)
|
rs2133102935
|
|
|
NM_024426.6(WT1):c.478C>G (p.Gln160Glu)
|
rs1554946500
|
|
|
NM_024426.6(WT1):c.478C>T (p.Gln160Ter)
|
rs1554946500
|
|
|
NM_024426.6(WT1):c.480G>C (p.Gln160His)
|
rs758900425
|
|
|
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
|
|
|
|
NM_024426.6(WT1):c.482G>T (p.Cys161Phe)
|
rs1201988298
|
|
|
NM_024426.6(WT1):c.483C>T (p.Cys161=)
|
|
|
|
NM_024426.6(WT1):c.484C>T (p.Leu162=)
|
|
|
|
NM_024426.6(WT1):c.487A>G (p.Ser163Gly)
|
|
|
|
NM_024426.6(WT1):c.488G>A (p.Ser163Asn)
|
rs1853444119
|
|
|
NM_024426.6(WT1):c.488G>C (p.Ser163Thr)
|
|
|
|
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
|
|
|
|
NM_024426.6(WT1):c.489C>T (p.Ser163=)
|
rs908414065
|
|
|
NM_024426.6(WT1):c.48G>A (p.Glu16=)
|
|
|
|
NM_024426.6(WT1):c.490G>C (p.Ala164Pro)
|
rs986597775
|
|
|
NM_024426.6(WT1):c.496A>G (p.Thr166Ala)
|
rs1853443725
|
|
|
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
|
|
|
|
NM_024426.6(WT1):c.498T>C (p.Thr166=)
|
rs1554946487
|
|
|
NM_024426.6(WT1):c.49C>A (p.Pro17Thr)
|
|
|
|
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
|
|
|
|
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
|
|
|
|
NM_024426.6(WT1):c.503A>G (p.His168Arg)
|
rs762660918
|
|
|
NM_024426.6(WT1):c.505T>C (p.Phe169Leu)
|
rs2133102637
|
|
|
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
|
|
|
|
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)
|
|
|
|
NM_024426.6(WT1):c.50C>T (p.Pro17Leu)
|
rs1853481697
|
|
|
NM_024426.6(WT1):c.510C>G (p.Ser170=)
|
rs772890986
|
|
|
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
|
|
|
|
NM_024426.6(WT1):c.512G>T (p.Gly171Val)
|
rs1554946480
|
|
|
NM_024426.6(WT1):c.513C>T (p.Gly171=)
|
|
|
|
NM_024426.6(WT1):c.514C>T (p.Gln172Ter)
|
|
|
|
NM_024426.6(WT1):c.514del (p.Gln172fs)
|
rs2133102575
|
|
|
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
|
|
|
|
NM_024426.6(WT1):c.51G>A (p.Pro17=)
|
rs1590411695
|
|
|
NM_024426.6(WT1):c.51G>C (p.Pro17=)
|
rs1590411695
|
|
|
NM_024426.6(WT1):c.520A>G (p.Thr174Ala)
|
rs955122145
|
|
|
NM_024426.6(WT1):c.522T>C (p.Thr174=)
|
rs747958111
|
|
|
NM_024426.6(WT1):c.522T>G (p.Thr174=)
|
|
|
|
NM_024426.6(WT1):c.524G>A (p.Gly175Asp)
|
rs1853442286
|
|
|
NM_024426.6(WT1):c.527C>T (p.Thr176Ile)
|
rs1853442157
|
|
|
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
|
|
|
|
NM_024426.6(WT1):c.52G>C (p.Ala18Pro)
|
rs1590411684
|
|
|
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
|
|
|
|
NM_024426.6(WT1):c.530C>T (p.Ala177Val)
|
|
|
|
NM_024426.6(WT1):c.531C>G (p.Ala177=)
|
rs1354094843
|
|
|
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
|
|
|
|
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
|
|
|
|
NM_024426.6(WT1):c.534A>G (p.Gly178=)
|
|
|
|
NM_024426.6(WT1):c.535G>A (p.Ala179Thr)
|
rs2133102397
|
|
|
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
|
|
|
|
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
|
|
|
|
NM_024426.6(WT1):c.541C>A (p.Arg181Ser)
|
rs1565001278
|
|
|
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
|
|
|
|
NM_024426.6(WT1):c.542G>C (p.Arg181Pro)
|
rs1853441270
|
|
|
NM_024426.6(WT1):c.543C>T (p.Arg181=)
|
rs369870529
|
|
|
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
|
|
|
|
NM_024426.6(WT1):c.546C>A (p.Tyr182Ter)
|
rs121907911
|
|
|
NM_024426.6(WT1):c.546C>T (p.Tyr182=)
|
|
|
|
NM_024426.6(WT1):c.547G>C (p.Gly183Arg)
|
rs1462705405
|
|
|
NM_024426.6(WT1):c.548G>A (p.Gly183Glu)
|
rs1060501256
|
|
|
NM_024426.6(WT1):c.549G>T (p.Gly183=)
|
rs1199167878
|
|
|
NM_024426.6(WT1):c.553T>C (p.Phe185Leu)
|
|
|
|
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
|
|
|
|
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
|
|
|
|
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
|
|
|
|
NM_024426.6(WT1):c.555C>T (p.Phe185=)
|
rs1554946465
|
|
|
NM_024426.6(WT1):c.556G>A (p.Gly186Ser)
|
rs768644520
|
|
|
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
|
|
|
|
NM_024426.6(WT1):c.561T>C (p.Pro187=)
|
rs2133102109
|
|
|
NM_024426.6(WT1):c.562C>T (p.Pro188Ser)
|
rs1565001232
|
|
|
NM_024426.6(WT1):c.563C>T (p.Pro188Leu)
|
rs2133102091
|
|
|
NM_024426.6(WT1):c.564T>A (p.Pro188=)
|
rs1060504178
|
|
|
NM_024426.6(WT1):c.565C>G (p.Pro189Ala)
|
rs1853439331
|
|
|
NM_024426.6(WT1):c.565C>T (p.Pro189Ser)
|
rs1853439331
|
|
|
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
|
|
|
|
NM_024426.6(WT1):c.566C>G (p.Pro189Arg)
|
rs745879965
|
|
|
NM_024426.6(WT1):c.567G>A (p.Pro189=)
|
|
|
|
NM_024426.6(WT1):c.568C>G (p.Pro190Ala)
|
|
|
|
NM_024426.6(WT1):c.569C>T (p.Pro190Leu)
|
rs757349907
|
|
|
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
|
|
|
|
NM_024426.6(WT1):c.570C>T (p.Pro190=)
|
|
|
|
NM_024426.6(WT1):c.572G>C (p.Ser191Thr)
|
rs2133101967
|
|
|
NM_024426.6(WT1):c.575A>G (p.Gln192Arg)
|
rs1853438394
|
|
|
NM_024426.6(WT1):c.577G>A (p.Ala193Thr)
|
rs1590409175
|
|
|
NM_024426.6(WT1):c.577G>C (p.Ala193Pro)
|
rs1590409175
|
|
|
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
|
|
|
|
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
|
|
|
|
NM_024426.6(WT1):c.578C>G (p.Ala193Gly)
|
rs572926487
|
|
|
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
|
|
|
|
NM_024426.6(WT1):c.579G>A (p.Ala193=)
|
rs2133101885
|
|
|
NM_024426.6(WT1):c.581C>T (p.Ser194Leu)
|
rs2133101846
|
|
|
NM_024426.6(WT1):c.582A>C (p.Ser194=)
|
rs1302907380
|
|
|
NM_024426.6(WT1):c.582A>T (p.Ser194=)
|
rs1302907380
|
|
|
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
|
|
|
|
NM_024426.6(WT1):c.584C>T (p.Ser195Phe)
|
rs778194188
|
|
|
NM_024426.6(WT1):c.585C>G (p.Ser195=)
|
|
|
|
NM_024426.6(WT1):c.589C>A (p.Gln197Lys)
|
rs2133101720
|
|
|
NM_024426.6(WT1):c.590A>G (p.Gln197Arg)
|
rs1853436737
|
|
|
NM_024426.6(WT1):c.591G>A (p.Gln197=)
|
|
|
|
NM_024426.6(WT1):c.591G>T (p.Gln197His)
|
rs767850217
|
|
|
NM_024426.6(WT1):c.592G>T (p.Ala198Ser)
|
|
|
|
NM_024426.6(WT1):c.592del (p.Ala198fs)
|
rs1131690795
|
|
|
NM_024426.6(WT1):c.593C>T (p.Ala198Val)
|
rs1853436133
|
|
|
NM_024426.6(WT1):c.597G>A (p.Arg199=)
|
rs762418497
|
|
|
NM_024426.6(WT1):c.598A>G (p.Met200Val)
|
|
|
|
NM_024426.6(WT1):c.598A>T (p.Met200Leu)
|
rs1853435610
|
|
|
NM_024426.6(WT1):c.599T>G (p.Met200Arg)
|
rs2133101589
|
|
|
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
|
|
|
|
NM_024426.6(WT1):c.600G>A (p.Met200Ile)
|
rs1060501257
|
|
|
NM_024426.6(WT1):c.604C>T (p.Pro202Ser)
|
rs1853435385
|
|
|
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
|
|
|
|
NM_024426.6(WT1):c.609C>G (p.Asn203Lys)
|
rs2234583
|
|
|
NM_024426.6(WT1):c.610G>T (p.Ala204Ser)
|
rs9332973
|
|
|
NM_024426.6(WT1):c.611C>T (p.Ala204Val)
|
rs1277548839
|
|
|
NM_024426.6(WT1):c.612G>A (p.Ala204=)
|
|
|
|
NM_024426.6(WT1):c.612G>T (p.Ala204=)
|
rs2133101498
|
|
|
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
|
|
|
|
NM_024426.6(WT1):c.617A>T (p.Tyr206Phe)
|
|
|
|
NM_024426.6(WT1):c.618C>T (p.Tyr206=)
|
rs1853434598
|
|
|
NM_024426.6(WT1):c.61C>T (p.His21Tyr)
|
|
|
|
NM_024426.6(WT1):c.624C>T (p.Pro208=)
|
|
|
|
NM_024426.6(WT1):c.62A>G (p.His21Arg)
|
rs1853481014
|
|
|
NM_024426.6(WT1):c.62A>T (p.His21Leu)
|
rs1853481014
|
|
|
NM_024426.6(WT1):c.630C>T (p.Cys210=)
|
rs1590408912
|
|
|
NM_024426.6(WT1):c.631C>T (p.Leu211Phe)
|
rs1853433365
|
|
|
NM_024426.6(WT1):c.633C>G (p.Leu211=)
|
rs576677344
|
|
|
NM_024426.6(WT1):c.633C>T (p.Leu211=)
|
rs576677344
|
|
|
NM_024426.6(WT1):c.634G>T (p.Glu212Ter)
|
|
|
|
NM_024426.6(WT1):c.635A>G (p.Glu212Gly)
|
rs2133101294
|
|
|
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
|
|
|
|
NM_024426.6(WT1):c.638G>A (p.Ser213Asn)
|
rs746964440
|
|
|
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
|
|
|
|
NM_024426.6(WT1):c.63C>T (p.His21=)
|
rs2133107593
|
|
|
NM_024426.6(WT1):c.640C>T (p.Gln214Ter)
|
|
|
|
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
|
|
|
|
NM_024426.6(WT1):c.645C>A (p.Pro215=)
|
|
|
|
NM_024426.6(WT1):c.645C>G (p.Pro215=)
|
rs749405227
|
|
|
NM_024426.6(WT1):c.645C>T (p.Pro215=)
|
|
|
|
NM_024426.6(WT1):c.648_654dup (p.Asn219fs)
|
|
|
|
NM_024426.6(WT1):c.649A>C (p.Ile217Leu)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.649A>G (p.Ile217Val)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.649A>T (p.Ile217Phe)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.64A>G (p.Thr22Ala)
|
rs2133107584
|
|
|
NM_024426.6(WT1):c.651T>C (p.Ile217=)
|
|
|
|
NM_024426.6(WT1):c.652C>A (p.Arg218Ser)
|
rs2133101131
|
|
|
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
|
|
|
|
NM_024426.6(WT1):c.653G>A (p.Arg218His)
|
rs756414084
|
|
|
NM_024426.6(WT1):c.653G>T (p.Arg218Leu)
|
rs756414084
|
|
|
NM_024426.6(WT1):c.653del (p.Arg218fs)
|
rs1565000973
|
|
|
NM_024426.6(WT1):c.654C>T (p.Arg218=)
|
|
|
|
NM_024426.6(WT1):c.655A>C (p.Asn219His)
|
rs748435329
|
|
|
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
|
|
|
|
NM_024426.6(WT1):c.659A>G (p.Gln220Arg)
|
rs1554946409
|
|
|
NM_024426.6(WT1):c.659A>T (p.Gln220Leu)
|
rs1554946409
|
|
|
NM_024426.6(WT1):c.65C>A (p.Thr22Lys)
|
|
|
|
NM_024426.6(WT1):c.660G>A (p.Gln220=)
|
|
|
|
NM_024426.6(WT1):c.661+10C>T
|
rs1853430393
|
|
|
NM_024426.6(WT1):c.661+11C>A
|
|
|
|
NM_024426.6(WT1):c.661+11del
|
rs778200475
|
|
|
NM_024426.6(WT1):c.661+12G>A
|
|
|
|
NM_024426.6(WT1):c.661+12G>C
|
|
|
|
NM_024426.6(WT1):c.661+13G>A
|
rs1405273217
|
|
|
NM_024426.6(WT1):c.661+13G>C
|
rs1405273217
|
|
|
NM_024426.6(WT1):c.661+14G>A
|
|
|
|
NM_024426.6(WT1):c.661+14G>C
|
|
|
|
NM_024426.6(WT1):c.661+14G>T
|
|
|
|
NM_024426.6(WT1):c.661+15G>T
|
rs1362460137
|
|
|
NM_024426.6(WT1):c.661+17G>T
|
|
|
|
NM_024426.6(WT1):c.661+18C>T
|
rs369162648
|
|
|
NM_024426.6(WT1):c.661+19G>A
|
rs1413587778
|
|
|
NM_024426.6(WT1):c.661+19G>C
|
|
|
|
NM_024426.6(WT1):c.661+3A>G
|
|
|
|
NM_024426.6(WT1):c.661+7A>G
|
rs538357126
|
|
|
NM_024426.6(WT1):c.661+9G>A
|
rs755336626
|
|
|
NM_024426.6(WT1):c.661+9G>T
|
rs755336626
|
|
|
NM_024426.6(WT1):c.661+9del
|
|
|
|
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
|
|
|
|
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
|
|
|
|
NM_024426.6(WT1):c.662-10G>T
|
rs1554945255
|
|
|
NM_024426.6(WT1):c.662-11C>T
|
|
|
|
NM_024426.6(WT1):c.662-12C>A
|
rs2133076430
|
|
|
NM_024426.6(WT1):c.662-13G>A
|
|
|
|
NM_024426.6(WT1):c.662-14C>T
|
|
|
|
NM_024426.6(WT1):c.662-16T>A
|
|
|
|
NM_024426.6(WT1):c.662-3C>T
|
rs1853152059
|
|
|
NM_024426.6(WT1):c.662-4G>A
|
rs938242205
|
|
|
NM_024426.6(WT1):c.662-4G>T
|
rs938242205
|
|
|
NM_024426.6(WT1):c.662-7C>T
|
|
|
|
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
|
|
|
|
NM_024426.6(WT1):c.664T>C (p.Tyr222His)
|
rs746367691
|
|
|
NM_024426.6(WT1):c.666C>T (p.Tyr222=)
|
rs1590396134
|
|
|
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
|
|
|
|
NM_024426.6(WT1):c.66G>C (p.Thr22=)
|
|
|
|
NM_024426.6(WT1):c.66G>T (p.Thr22=)
|
rs1214646426
|
|
|
NM_024426.6(WT1):c.670A>T (p.Thr224Ser)
|
rs1554945246
|
|
|
NM_024426.6(WT1):c.671C>A (p.Thr224Lys)
|
|
|
|
NM_024426.6(WT1):c.671C>T (p.Thr224Met)
|
rs779451877
|
|
|
NM_024426.6(WT1):c.672G>A (p.Thr224=)
|
rs756695525
|
|
|
NM_024426.6(WT1):c.672G>T (p.Thr224=)
|
rs756695525
|
|
|
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
|
|
|
|
NM_024426.6(WT1):c.675C>A (p.Val225=)
|
|
|
|
NM_024426.6(WT1):c.676A>C (p.Thr226Pro)
|
rs1853150433
|
|
|
NM_024426.6(WT1):c.677C>A (p.Thr226Asn)
|
rs556804456
|
|
|
NM_024426.6(WT1):c.677C>T (p.Thr226Ile)
|
rs556804456
|
|
|
NM_024426.6(WT1):c.678C>G (p.Thr226=)
|
|
|
|
NM_024426.6(WT1):c.678C>T (p.Thr226=)
|
|
|
|
NM_024426.6(WT1):c.67C>T (p.Leu23Phe)
|
rs2133107546
|
|
|
NM_024426.6(WT1):c.680T>C (p.Phe227Ser)
|
rs1554945235
|
|
|
NM_024426.6(WT1):c.682G>A (p.Asp228Asn)
|
rs1193052708
|
|
|
NM_024426.6(WT1):c.682G>T (p.Asp228Tyr)
|
|
|
|
NM_024426.6(WT1):c.682dup (p.Asp228fs)
|
rs1554945232
|
|
|
NM_024426.6(WT1):c.684C>T (p.Asp228=)
|
|
|
|
NM_024426.6(WT1):c.685G>C (p.Gly229Arg)
|
rs767419243
|
|
|
NM_024426.6(WT1):c.686G>C (p.Gly229Ala)
|
|
|
|
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
|
|
|
|
NM_024426.6(WT1):c.689C>G (p.Thr230Arg)
|
rs777166391
|
|
|
NM_024426.6(WT1):c.690G>A (p.Thr230=)
|
rs1277854204
|
|
|
NM_024426.6(WT1):c.690G>T (p.Thr230=)
|
|
|
|
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser)
|
rs1853148368
|
|
|
NM_024426.6(WT1):c.691C>G (p.Pro231Ala)
|
rs766425764
|
|
|
NM_024426.6(WT1):c.693C>T (p.Pro231=)
|
|
|
|
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
|
|
|
|
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr)
|
rs1853147640
|
|
|
NM_024426.6(WT1):c.695G>C (p.Ser232Thr)
|
rs761913397
|
|
|
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
|
|
|
|
NM_024426.6(WT1):c.699C>T (p.Tyr233=)
|
rs1349302999
|
|
|
NM_024426.6(WT1):c.69_70del (p.Arg24fs)
|
|
|
|
NM_024426.6(WT1):c.700G>C (p.Gly234Arg)
|
rs1307992683
|
|
|
NM_024426.6(WT1):c.700G>T (p.Gly234Cys)
|
rs1307992683
|
|
|
NM_024426.6(WT1):c.705C>T (p.His235=)
|
|
|
|
NM_024426.6(WT1):c.707C>T (p.Thr236Met)
|
rs1372808262
|
|
|
NM_024426.6(WT1):c.708G>A (p.Thr236=)
|
rs768828897
|
|
|
NM_024426.6(WT1):c.708G>C (p.Thr236=)
|
|
|
|
NM_024426.6(WT1):c.709C>T (p.Pro237Ser)
|
rs2133075717
|
|
|
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
|
|
|
|
NM_024426.6(WT1):c.70C>G (p.Arg24Gly)
|
|
|
|
NM_024426.6(WT1):c.716_722del (p.His239fs)
|
|
|
|
NM_024426.6(WT1):c.718C>T (p.His240Tyr)
|
rs2133075605
|
|
|
NM_024426.6(WT1):c.719A>G (p.His240Arg)
|
rs886932571
|
|
|
NM_024426.6(WT1):c.719A>T (p.His240Leu)
|
rs886932571
|
|
|
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
|
|
|
|
NM_024426.6(WT1):c.721G>A (p.Ala241Thr)
|
rs1853145802
|
|
|
NM_024426.6(WT1):c.722C>T (p.Ala241Val)
|
rs1190263054
|
|
|
NM_024426.6(WT1):c.723G>A (p.Ala241=)
|
|
|
|
NM_024426.6(WT1):c.723G>C (p.Ala241=)
|
|
|
|
NM_024426.6(WT1):c.725C>T (p.Ala242Val)
|
rs1853145265
|
|
|
NM_024426.6(WT1):c.726G>T (p.Ala242=)
|
rs1473494675
|
|
|
NM_024426.6(WT1):c.728A>C (p.Gln243Pro)
|
|
|
|
NM_024426.6(WT1):c.729G>A (p.Gln243=)
|
|
|
|
NM_024426.6(WT1):c.730T>C (p.Phe244Leu)
|
rs771455202
|
|
|
NM_024426.6(WT1):c.733C>T (p.Pro245Ser)
|
rs2133075412
|
|
|
NM_024426.6(WT1):c.737A>G (p.Asn246Ser)
|
|
|
|
NM_024426.6(WT1):c.738C>T (p.Asn246=)
|
rs2133075363
|
|
|
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
|
|
|
|
NM_024426.6(WT1):c.740A>G (p.His247Arg)
|
rs749860238
|
|
|
NM_024426.6(WT1):c.740A>T (p.His247Leu)
|
rs749860238
|
|
|
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
|
|
|
|
NM_024426.6(WT1):c.744A>G (p.Ser248=)
|
rs2133075308
|
|
|
NM_024426.6(WT1):c.745T>A (p.Phe249Ile)
|
rs2133075297
|
|
|
NM_024426.6(WT1):c.746T>G (p.Phe249Cys)
|
rs777119782
|
|
|
NM_024426.6(WT1):c.747C>G (p.Phe249Leu)
|
rs1060501259
|
|
|
NM_024426.6(WT1):c.750G>A (p.Lys250=)
|
rs1853143486
|
|
|
NM_024426.6(WT1):c.752A>G (p.His251Arg)
|
rs914029023
|
|
|
NM_024426.6(WT1):c.752A>T (p.His251Leu)
|
rs914029023
|
|
|
NM_024426.6(WT1):c.754G>A (p.Glu252Lys)
|
|
|
|
NM_024426.6(WT1):c.756G>A (p.Glu252=)
|
rs1406109697
|
|
|
NM_024426.6(WT1):c.757G>A (p.Asp253Asn)
|
rs1853142313
|
|
|
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
|
|
|
|
NM_024426.6(WT1):c.75C>G (p.Ser25=)
|
rs1417997475
|
|
|
NM_024426.6(WT1):c.760C>A (p.Pro254Thr)
|
rs2234584
|
|
|
NM_024426.6(WT1):c.763A>C (p.Met255Leu)
|
rs142653301
|
|
|
NM_024426.6(WT1):c.763A>T (p.Met255Leu)
|
rs142653301
|
|
|
NM_024426.6(WT1):c.764T>A (p.Met255Lys)
|
rs377573993
|
|
|
NM_024426.6(WT1):c.765G>C (p.Met255Ile)
|
rs1060501255
|
|
|
NM_024426.6(WT1):c.765G>T (p.Met255Ile)
|
rs1060501255
|
|
|
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
|
|
|
|
NM_024426.6(WT1):c.767G>T (p.Gly256Val)
|
rs1554945190
|
|
|
NM_024426.6(WT1):c.76G>C (p.Gly26Arg)
|
rs1189241211
|
|
|
NM_024426.6(WT1):c.76_80del (p.Gly26fs)
|
|
|
|
NM_024426.6(WT1):c.771G>A (p.Gln257=)
|
rs1853140764
|
|
|
NM_024426.6(WT1):c.773A>G (p.Gln258Arg)
|
rs1853140674
|
|
|
NM_024426.6(WT1):c.774G>A (p.Gln258=)
|
|
|
|
NM_024426.6(WT1):c.774G>C (p.Gln258His)
|
rs1853140429
|
|
|
NM_024426.6(WT1):c.776G>A (p.Gly259Asp)
|
rs1311184469
|
|
|
NM_024426.6(WT1):c.777C>A (p.Gly259=)
|
rs1395854761
|
|
|
NM_024426.6(WT1):c.777C>G (p.Gly259=)
|
|
|
|
NM_024426.6(WT1):c.780G>A (p.Ser260=)
|
rs1403311573
|
|
|
NM_024426.6(WT1):c.780G>C (p.Ser260=)
|
rs1403311573
|
|
|
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
|
|
|
|
NM_024426.6(WT1):c.783G>A (p.Leu261=)
|
rs2133074898
|
|
|
NM_024426.6(WT1):c.784+10C>A
|
rs1554945172
|
|
|
NM_024426.6(WT1):c.784+11G>C
|
|
|
|
NM_024426.6(WT1):c.784+13A>G
|
rs2133074798
|
|
|
NM_024426.6(WT1):c.784+15C>G
|
|
|
|
NM_024426.6(WT1):c.784+15C>T
|
rs1160084869
|
|
|
NM_024426.6(WT1):c.784+20T>C
|
|
|
|
NM_024426.6(WT1):c.784+5G>A
|
|
|
|
NM_024426.6(WT1):c.784+6C>T
|
rs1455790542
|
|
|
NM_024426.6(WT1):c.784+7G>C
|
rs1033235205
|
|
|
NM_024426.6(WT1):c.784+7G>T
|
rs1033235205
|
|
|
NM_024426.6(WT1):c.784+7del
|
rs2133074842
|
|
|
NM_024426.6(WT1):c.784G>C (p.Gly262Arg)
|
|
|
|
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
|
|
|
|
NM_024426.6(WT1):c.785-10C>T
|
rs2133073171
|
|
|
NM_024426.6(WT1):c.785-14G>A
|
rs375514482
|
|
|
NM_024426.6(WT1):c.785-14G>C
|
rs375514482
|
|
|
NM_024426.6(WT1):c.785-14G>T
|
rs375514482
|
|
|
NM_024426.6(WT1):c.785-15C>T
|
|
|
|
NM_024426.6(WT1):c.785-17T>G
|
|
|
|
NM_024426.6(WT1):c.785-19T>A
|
|
|
|
NM_024426.6(WT1):c.785-20G>A
|
|
|
|
NM_024426.6(WT1):c.785-3C>T
|
rs1590394595
|
|
|
NM_024426.6(WT1):c.785-4G>T
|
|
|
|
NM_024426.6(WT1):c.785-6C>T
|
rs2133073137
|
|
|
NM_024426.6(WT1):c.785-7T>C
|
rs758280375
|
|
|
NM_024426.6(WT1):c.785-7T>G
|
rs758280375
|
|
|
NM_024426.6(WT1):c.785-8C>A
|
rs1204125933
|
|
|
NM_024426.6(WT1):c.786T>C (p.Gly262=)
|
|
|
|
NM_024426.6(WT1):c.789G>A (p.Glu263=)
|
rs878855087
|
|
|
NM_024426.6(WT1):c.790C>T (p.Gln264Ter)
|
|
|
|
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
|
|
|
|
NM_024426.6(WT1):c.792G>A (p.Gln264=)
|
|
|
|
NM_024426.6(WT1):c.795G>C (p.Gln265His)
|
|
|
|
NM_024426.6(WT1):c.796T>C (p.Tyr266His)
|
|
|
|
NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)
|
rs2133073037
|
|
|
NM_024426.6(WT1):c.798C>T (p.Tyr266=)
|
rs2133073037
|
|
|
NM_024426.6(WT1):c.799T>C (p.Ser267Pro)
|
|
|
|
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
|
|
|
|
NM_024426.6(WT1):c.79C>T (p.Pro27Ser)
|
|
|
|
NM_024426.6(WT1):c.7T>G (p.Phe3Val)
|
|
|
|
NM_024426.6(WT1):c.800C>T (p.Ser267Leu)
|
rs2133073025
|
|
|
NM_024426.6(WT1):c.801G>A (p.Ser267=)
|
|
|
|
NM_024426.6(WT1):c.801G>C (p.Ser267=)
|
|
|
|
NM_024426.6(WT1):c.803T>C (p.Val268Ala)
|
|
|
|
NM_024426.6(WT1):c.804G>A (p.Val268=)
|
rs1060504179
|
|
|
NM_024426.6(WT1):c.806C>T (p.Pro269Leu)
|
rs756078681
|
|
|
NM_024426.6(WT1):c.809C>T (p.Pro270Leu)
|
rs1853120541
|
|
|
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
|
|
|
|
NM_024426.6(WT1):c.812del (p.Pro271fs)
|
rs1060501253
|
|
|
NM_024426.6(WT1):c.816C>A (p.Val272=)
|
rs536750501
|
|
|
NM_024426.6(WT1):c.816C>G (p.Val272=)
|
|
|
|
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
|
|
|
|
NM_024426.6(WT1):c.825C>G (p.Cys275Trp)
|
rs200222400
|
|
|
NM_024426.6(WT1):c.825C>T (p.Cys275=)
|
|
|
|
NM_024426.6(WT1):c.830C>A (p.Thr277Asn)
|
rs138073760
|
|
|
NM_024426.6(WT1):c.832C>T (p.Pro278Ser)
|
|
|
|
NM_024426.6(WT1):c.834C>G (p.Pro278=)
|
rs2133072527
|
|
|
NM_024426.6(WT1):c.834del (p.Thr279fs)
|
|
|
|
NM_024426.6(WT1):c.834dup (p.Thr279fs)
|
rs2133072543
|
|
|
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_024426.6(WT1):c.837C>T (p.Thr279=)
|
rs747613465
|
|
|
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
|
|
|
|
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
|
|
|
|
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
|
|
|
|
NM_024426.6(WT1):c.848C>T (p.Thr283Ile)
|
rs776258782
|
|
|
NM_024426.6(WT1):c.849C>A (p.Thr283=)
|
rs145425799
|
|
|
NM_024426.6(WT1):c.849C>G (p.Thr283=)
|
|
|
|
NM_024426.6(WT1):c.84G>C (p.Gly28=)
|
|
|
|
NM_024426.6(WT1):c.854G>A (p.Ser285Asn)
|
rs779813097
|
|
|
NM_024426.6(WT1):c.854G>C (p.Ser285Thr)
|
rs779813097
|
|
|
NM_024426.6(WT1):c.855C>A (p.Ser285Arg)
|
rs1320428764
|
|
|
NM_024426.6(WT1):c.855C>T (p.Ser285=)
|
rs1320428764
|
|
|
NM_024426.6(WT1):c.857A>C (p.Gln286Pro)
|
rs2133072249
|
|
|
NM_024426.6(WT1):c.859G>C (p.Ala287Pro)
|
rs368452754
|
|
|
NM_024426.6(WT1):c.865C>T (p.Leu289=)
|
rs1554945037
|
|
|
NM_024426.6(WT1):c.866T>C (p.Leu289Pro)
|
rs2133072199
|
|
|
NM_024426.6(WT1):c.867G>A (p.Leu289=)
|
rs1590394212
|
|
|
NM_024426.6(WT1):c.868C>T (p.Leu290=)
|
|
|
|
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
|
|
|
|
NM_024426.6(WT1):c.874A>G (p.Thr292Ala)
|
rs1853114494
|
|
|
NM_024426.6(WT1):c.875C>A (p.Thr292Lys)
|
rs1853114358
|
|
|
NM_024426.6(WT1):c.875C>T (p.Thr292Met)
|
rs1853114358
|
|
|
NM_024426.6(WT1):c.876G>A (p.Thr292=)
|
rs1343218741
|
|
|
NM_024426.6(WT1):c.876G>C (p.Thr292=)
|
rs1343218741
|
|
|
NM_024426.6(WT1):c.876G>T (p.Thr292=)
|
rs1343218741
|
|
|
NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
|
|
|
|
NM_024426.6(WT1):c.879C>T (p.Pro293=)
|
rs1274468551
|
|
|
NM_024426.6(WT1):c.87C>A (p.Cys29Ter)
|
rs1554946770
|
|
|
NM_024426.6(WT1):c.87C>T (p.Cys29=)
|
rs1554946770
|
|
|
NM_024426.6(WT1):c.880_882del (p.Tyr294del)
|
rs1554945033
|
|
|
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)
|
rs1554945031
|
|
|
NM_024426.6(WT1):c.882C>T (p.Tyr294=)
|
rs1554945031
|
|
|
NM_024426.6(WT1):c.882_887+3del
|
rs2133072022
|
|
|
NM_024426.6(WT1):c.883A>G (p.Ser295Gly)
|
rs1853113579
|
|
|
NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
|
|
|
|
NM_024426.6(WT1):c.887+11G>A
|
rs1286407878
|
|
|
NM_024426.6(WT1):c.887+12C>T
|
|
|
|
NM_024426.6(WT1):c.887+13T>A
|
|
|
|
NM_024426.6(WT1):c.887+15_887+16delinsAA
|
|
|
|
NM_024426.6(WT1):c.887+17C>T
|
|
|
|
NM_024426.6(WT1):c.887+18T>C
|
|
|
|
NM_024426.6(WT1):c.887+20T>C
|
|
|
|
NM_024426.6(WT1):c.887+5del
|
|
|
|
NM_024426.6(WT1):c.887+6_887+8dup
|
|
|
|
NM_024426.6(WT1):c.887+9G>A
|
|
|
|
NM_024426.6(WT1):c.888-13G>T
|
|
|
|
NM_024426.6(WT1):c.888-16G>A
|
|
|
|
NM_024426.6(WT1):c.888-19C>G
|
|
|
|
NM_024426.6(WT1):c.888-1G>A
|
|
|
|
NM_024426.6(WT1):c.888-20T>A
|
rs2133037949
|
|
|
NM_024426.6(WT1):c.888-2A>G
|
|
|
|
NM_024426.6(WT1):c.888-5A>C
|
rs751693310
|
|
|
NM_024426.6(WT1):c.888-6T>C
|
|
|
|
NM_024426.6(WT1):c.888-8T>C
|
|
|
|
NM_024426.6(WT1):c.888-8dup
|
|
|
|
NM_024426.6(WT1):c.888-9T>A
|
rs1852720933
|
|
|
NM_024426.6(WT1):c.888-9T>C
|
rs1852720933
|
|
|
NM_024426.6(WT1):c.891C>A (p.Asp297Glu)
|
rs2133037806
|
|
|
NM_024426.6(WT1):c.892A>G (p.Asn298Asp)
|
rs1554943492
|
|
|
NM_024426.6(WT1):c.893A>G (p.Asn298Ser)
|
rs907964605
|
|
|
NM_024426.6(WT1):c.893_909del (p.Asn298fs)
|
rs587776573
|
|
|
NM_024426.6(WT1):c.897del (p.Leu299fs)
|
rs1852720329
|
|
|
NM_024426.6(WT1):c.900C>T (p.Tyr300=)
|
rs190440703
|
|
|
NM_024426.6(WT1):c.903A>G (p.Gln301=)
|
|
|
|
NM_024426.6(WT1):c.905T>A (p.Met302Lys)
|
rs1208241960
|
|
|
NM_024426.6(WT1):c.905T>G (p.Met302Arg)
|
|
|
|
NM_024426.6(WT1):c.906G>T (p.Met302Ile)
|
|
|
|
NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
|
|
|
|
NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
|
|
|
|
NM_024426.6(WT1):c.909A>G (p.Thr303=)
|
rs2133037516
|
|
|
NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
|
|
|
|
NM_024426.6(WT1):c.912C>A (p.Ser304=)
|
|
|
|
NM_024426.6(WT1):c.912C>T (p.Ser304=)
|
|
|
|
NM_024426.6(WT1):c.913C>T (p.Gln305Ter)
|
|
|
|
NM_024426.6(WT1):c.916C>A (p.Leu306Ile)
|
rs2133037398
|
|
|
NM_024426.6(WT1):c.919G>C (p.Glu307Gln)
|
rs1852718651
|
|
|
NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
|
|
|
|
NM_024426.6(WT1):c.91C>T (p.Gln31Ter)
|
rs914057243
|
|
|
NM_024426.6(WT1):c.922T>G (p.Cys308Gly)
|
rs1852718495
|
|
|
NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
|
|
|
|
NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
|
|
|
|
NM_024426.6(WT1):c.930C>G (p.Thr310=)
|
|
|
|
NM_024426.6(WT1):c.930C>T (p.Thr310=)
|
rs1268419525
|
|
|
NM_024426.6(WT1):c.939G>A (p.Gln313=)
|
|
|
|
NM_024426.6(WT1):c.941T>C (p.Met314Thr)
|
|
|
|
NM_024426.6(WT1):c.941T>G (p.Met314Arg)
|
|
|
|
NM_024426.6(WT1):c.946T>A (p.Leu316Ile)
|
rs2133036912
|
|
|
NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
|
|
|
|
NM_024426.6(WT1):c.951A>C (p.Gly317=)
|
rs2133036838
|
|
|
NM_024426.6(WT1):c.952G>A (p.Ala318Thr)
|
|
|
|
NM_024426.6(WT1):c.953C>G (p.Ala318Gly)
|
rs1201042140
|
|
|
NM_024426.6(WT1):c.955A>G (p.Thr319Ala)
|
rs1852716784
|
|
|
NM_024426.6(WT1):c.956C>A (p.Thr319Asn)
|
rs372630828
|
|
|
NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
|
|
|
|
NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
|
|
|
|
NM_024426.6(WT1):c.965+13C>T
|
rs1159065961
|
|
|
NM_024426.6(WT1):c.965+20A>C
|
|
|
|
NM_024426.6(WT1):c.965+20A>G
|
|
|
|
NM_024426.6(WT1):c.965+2T>C
|
|
|
|
NM_024426.6(WT1):c.965+3A>G
|
|
|
|
NM_024426.6(WT1):c.965+4A>G
|
|
|
|
NM_024426.6(WT1):c.965+5G>A
|
rs2133036572
|
|
|
NM_024426.6(WT1):c.965+6G>A
|
|
|
|
NM_024426.6(WT1):c.965+7T>C
|
rs1590375400
|
|
|
NM_024426.6(WT1):c.965+7T>G
|
rs1590375400
|
|
|
NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
|
|
|
|
NM_024426.6(WT1):c.966-11T>C
|
|
|
|
NM_024426.6(WT1):c.966-12C>A
|
rs2133032805
|
|
|
NM_024426.6(WT1):c.966-15CTT[2]
|
rs1316773733
|
|
|
NM_024426.6(WT1):c.966-1G>A
|
rs773989805
|
|
|
NM_024426.6(WT1):c.966-3T>C
|
|
|
|
NM_024426.6(WT1):c.966-4C>G
|
rs1590373580
|
|
|
NM_024426.6(WT1):c.966-4del
|
rs1438888966
|
|
|
NM_024426.6(WT1):c.966-8T>C
|
rs1273567991
|
|
|
NM_024426.6(WT1):c.966-9C>G
|
|
|
|
NM_024426.6(WT1):c.968T>C (p.Val323Ala)
|
rs1852677213
|
|
|
NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
|
|
|
|
NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
|
|
|
|
NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
|
|
|
|
NM_024426.6(WT1):c.978G>A (p.Gly326=)
|
rs2133032654
|
|
|
NM_024426.6(WT1):c.979A>C (p.Ser327Arg)
|
rs1590373542
|
|
|
NM_024426.6(WT1):c.979A>G (p.Ser327Gly)
|
|
|
|
NM_024426.6(WT1):c.981C>T (p.Ser327=)
|
|
|
|
NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
|
|
|
|
NM_024426.6(WT1):c.987C>G (p.Ser329Arg)
|
rs2133032527
|
|
|
NM_024426.6(WT1):c.987C>T (p.Ser329=)
|
|
|
|
NM_024426.6(WT1):c.988T>C (p.Ser330Pro)
|
rs879279620
|
|
|
NM_024426.6(WT1):c.989C>T (p.Ser330Leu)
|
rs762688982
|
|
|
NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
|
|
|
|
NM_024426.6(WT1):c.991G>A (p.Val331Met)
|
|
|
|
NM_024426.6(WT1):c.992T>C (p.Val331Ala)
|
|
|
|
NM_024426.6(WT1):c.996A>T (p.Lys332Asn)
|
rs758410591
|
|
|
NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
|
|
|
|
NM_024426.6(WT1):c.99A>G (p.Pro33=)
|
rs2133107306
|
|
|
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)
|
rs1064793824
|
|
|
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)
|
rs864622411
|
|
|
NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His)
|
rs2139356308
|
|
|
NM_032409.3(PINK1):c.943T>C (p.Phe315Leu)
|
|
|
|
NM_145185.4(MAP2K7):c.752T>C (p.Leu251Pro)
|
rs1555701191
|
|
|
NM_152383.5(DIS3L2):c.2381_2382del (p.Arg794fs)
|
rs1553551874
|
|
|
NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg)
|
rs371430235
|
|
|
NM_152641.4(ARID2):c.1837C>T (p.Gln613Ter)
|
|
|
|
NM_177438.3(DICER1):c.*1448del
|
rs35463377
|
|
|
NM_177438.3(DICER1):c.*1448dup
|
rs35463377
|
|
|
NM_177438.3(DICER1):c.*1449_*1450insT
|
rs886050934
|
|
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NM_177438.3(DICER1):c.*1716TG[1]
|
rs35500699
|
|
|
NM_177438.3(DICER1):c.*2379dup
|
rs140355178
|
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|
NM_177438.3(DICER1):c.*2751GAT[1]
|
rs573135025
|
|
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NM_177438.3(DICER1):c.*2964del
|
rs537009606
|
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NM_177438.3(DICER1):c.*326del
|
rs35649919
|
|
|
NM_177438.3(DICER1):c.-45-1G>C
|
|
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|
NM_177438.3(DICER1):c.1153C>A (p.Arg385Ser)
|
rs746886465
|
|
|
NM_177438.3(DICER1):c.1241A>G (p.Asp414Gly)
|
|
|
|
NM_177438.3(DICER1):c.1330G>T (p.Gly444Ter)
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|
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NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter)
|
rs875989782
|
|
|
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter)
|
rs137852977
|
|
|
NM_177438.3(DICER1):c.1510-4del
|
rs546524688
|
|
|
NM_177438.3(DICER1):c.1510-4dup
|
rs546524688
|
|
|
NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter)
|
rs886037672
|
|
|
NM_177438.3(DICER1):c.1526G>A (p.Arg509Gln)
|
rs2140126745
|
|
|
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)
|
rs137852979
|
|
|
NM_177438.3(DICER1):c.1818TGA[2] (p.Asp609del)
|
rs1555372586
|
|
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NM_177438.3(DICER1):c.1891A>G (p.Ile631Val)
|
rs878855245
|
|
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NM_177438.3(DICER1):c.1908-138_2804+645del
|
|
|
|
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)
|
rs754081635
|
|
|
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)
|
rs878855246
|
|
|
NM_177438.3(DICER1):c.2035A>G (p.Ile679Val)
|
rs1224940599
|
|
|
NM_177438.3(DICER1):c.209_210inv (p.Lys70Thr)
|
|
|
|
NM_177438.3(DICER1):c.2154G>C (p.Glu718Asp)
|
rs1555371628
|
|
|
NM_177438.3(DICER1):c.220_221delinsTT (p.Ala74Leu)
|
rs1566815292
|
|
|
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu)
|
rs1595391071
|
|
|
NM_177438.3(DICER1):c.2392dup (p.Thr798fs)
|
rs886037690
|
|
|
NM_177438.3(DICER1):c.2436+1dup
|
|
|
|
NM_177438.3(DICER1):c.2458A>G (p.Thr820Ala)
|
rs1595380820
|
|
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NM_177438.3(DICER1):c.2468G>T (p.Gly823Val)
|
|
|
|
NM_177438.3(DICER1):c.2510T>C (p.Met837Thr)
|
rs1891606034
|
|
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NM_177438.3(DICER1):c.2613C>T (p.Asp871=)
|
rs759827733
|
|
|
NM_177438.3(DICER1):c.2773G>T (p.Glu925Ter)
|
rs1891554648
|
|
|
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter)
|
rs137852978
|
|
|
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter)
|
rs1060503605
|
|
|
NM_177438.3(DICER1):c.3093+1G>A
|
|
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|
NM_177438.3(DICER1):c.3094-8_3094-5del
|
rs770904411
|
|
|
NM_177438.3(DICER1):c.3221C>T (p.Thr1074Ile)
|
rs1060503653
|
|
|
NM_177438.3(DICER1):c.3357T>A (p.Asp1119Glu)
|
|
|
|
NM_177438.3(DICER1):c.3397G>A (p.Ala1133Thr)
|
rs1555369675
|
|
|
NM_177438.3(DICER1):c.3401A>G (p.His1134Arg)
|
|
|
|
NM_177438.3(DICER1):c.3579_3594dup (p.Gly1199fs)
|
|
|
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NM_177438.3(DICER1):c.3583G>C (p.Asp1195His)
|
rs1555369546
|
|
|
NM_177438.3(DICER1):c.3631G>C (p.Val1211Leu)
|
rs764470378
|
|
|
NM_177438.3(DICER1):c.3635A>C (p.Gln1212Pro)
|
rs763415569
|
|
|
NM_177438.3(DICER1):c.3740C>T (p.Ala1247Val)
|
|
|
|
NM_177438.3(DICER1):c.376A>T (p.Asn126Tyr)
|
rs373734886
|
|
|
NM_177438.3(DICER1):c.377A>G (p.Asn126Ser)
|
rs1060503593
|
|
|
NM_177438.3(DICER1):c.3785C>T (p.Pro1262Leu)
|
|
|
|
NM_177438.3(DICER1):c.3890T>G (p.Ile1297Ser)
|
|
|
|
NM_177438.3(DICER1):c.4024C>T (p.Arg1342Cys)
|
rs776854466
|
|
|
NM_177438.3(DICER1):c.4050+1G>A
|
rs875989783
|
|
|
NM_177438.3(DICER1):c.4085A>G (p.Lys1362Arg)
|
rs1595353726
|
|
|
NM_177438.3(DICER1):c.4103G>A (p.Arg1368His)
|
rs767112987
|
|
|
NM_177438.3(DICER1):c.412T>G (p.Trp138Gly)
|
|
|
|
NM_177438.3(DICER1):c.4151G>T (p.Gly1384Val)
|
rs1060503664
|
|
|
NM_177438.3(DICER1):c.4165C>G (p.Gln1389Glu)
|
rs1890715699
|
|
|
NM_177438.3(DICER1):c.4206+7_4206+8dup
|
rs1555368535
|
|
|
NM_177438.3(DICER1):c.4206+9_4206+21delinsT
|
rs886050941
|
|
|
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)
|
rs544960260
|
|
|
NM_177438.3(DICER1):c.4307C>A (p.Ala1436Asp)
|
rs777127946
|
|
|
NM_177438.3(DICER1):c.4312T>G (p.Tyr1438Asp)
|
rs878855264
|
|
|
NM_177438.3(DICER1):c.4374G>A (p.Met1458Ile)
|
rs1488281692
|
|
|
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)
|
rs875989784
|
|
|
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)
|
rs1131691197
|
|
|
NM_177438.3(DICER1):c.4514C>G (p.Ser1505Cys)
|
rs1890339895
|
|
|
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=)
|
rs1890331241
|
|
|
NM_177438.3(DICER1):c.4609G>T (p.Val1537Phe)
|
|
|
|
NM_177438.3(DICER1):c.4616C>A (p.Thr1539Lys)
|
rs747901058
|
|
|
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs)
|
rs875989781
|
|
|
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)
|
rs137852976
|
|
|
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)
|
rs875989779
|
|
|
NM_177438.3(DICER1):c.4807C>T (p.Leu1603=)
|
rs201320420
|
|
|
NM_177438.3(DICER1):c.4849del (p.Leu1617fs)
|
|
|
|
NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu)
|
rs1060503639
|
|
|
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter)
|
rs875989780
|
|
|
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu)
|
rs749900564
|
|
|
NM_177438.3(DICER1):c.5365-4A>G
|
|
|
|
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)
|
rs1595314576
|
|
|
NM_177438.3(DICER1):c.5494dup (p.Gln1832fs)
|
|
|
|
NM_177438.3(DICER1):c.5527+3A>G
|
rs1595313951
|
|
|
NM_177438.3(DICER1):c.5670del (p.Phe1890fs)
|
|
|
|
NM_177438.3(DICER1):c.625A>G (p.Ile209Val)
|
rs2140260977
|
|
|
NM_177438.3(DICER1):c.713C>G (p.Thr238Ser)
|
rs2140259927
|
|
|
NM_177438.3(DICER1):c.776C>T (p.Pro259Leu)
|
rs566464225
|
|
|
NM_177438.3(DICER1):c.829G>A (p.Ala277Thr)
|
rs1893485850
|
|
|
NM_177438.3(DICER1):c.904-1G>C
|
rs1566803555
|
|
|
NM_177438.3(DICER1):c.906dup (p.Leu303fs)
|
|
|
|
NM_177438.3(DICER1):c.968G>T (p.Gly323Val)
|
rs906299601
|
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
|
NM_203447.4(DOCK8):c.959C>T (p.Thr320Met)
|
rs766320232
|
|
|
NM_207122.2(EXT2):c.1242C>T (p.Ile414=)
|
rs2135127852
|
|
|
NR_002196.1(H19):n.-7080_-1781del
|
|
|
|
Single allele
|
|
|
|
t(21;22)(q21;q12)
|
|
|