|
NM_003977.4(AIP):c.920= (p.Arg307=)
|
rs4930199
|
0.99984
|
|
NM_003000.3(SDHB):c.201-36G>T
|
rs1022580
|
0.95416
|
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
|
NM_003977.4(AIP):c.682C>A (p.Gln228Lys)
|
rs641081
|
0.84113
|
|
NM_022124.6(CDH23):c.4206+131T>C
|
rs1227061
|
0.77987
|
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
|
NM_022124.6(CDH23):c.146-125T>C
|
rs2297953
|
0.74120
|
|
NM_017841.4(SDHAF2):c.261-42G>A
|
rs879647
|
0.70822
|
|
NM_016169.4(SUFU):c.1365+19T>C
|
rs12414407
|
0.68248
|
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
|
NM_022124.6(CDH23):c.1134+164C>G
|
rs7903772
|
0.61986
|
|
NM_003000.3(SDHB):c.642+325C>T
|
rs2235930
|
0.51227
|
|
NM_022124.6(CDH23):c.1135-128A>G
|
rs10823810
|
0.51167
|
|
NM_016169.4(SUFU):c.182+16C>T
|
rs2274351
|
0.46492
|
|
NM_022124.6(CDH23):c.832+101G>A
|
rs6480531
|
0.42446
|
|
NM_022124.6(CDH23):c.5187+99T>C
|
rs10762481
|
0.39527
|
|
NM_022124.6(CDH23):c.624+64C>T
|
rs7087735
|
0.34986
|
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
|
NM_003072.5(SMARCA4):c.1524T>C (p.His508=)
|
rs7935
|
0.32239
|
|
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=)
|
rs7275
|
0.28266
|
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
|
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)
|
rs1139449
|
0.25156
|
|
NM_004168.4(SDHA):c.896-20A>G
|
rs7710005
|
0.25110
|
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
|
NM_016169.4(SUFU):c.*1122C>T
|
rs11596235
|
0.23724
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_016169.4(SUFU):c.*2585T>C
|
rs11191355
|
0.20858
|
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
|
NM_003072.5(SMARCA4):c.4425-5330G>T
|
rs1122608
|
0.17470
|
|
NM_016169.4(SUFU):c.*2668C>T
|
rs11594179
|
0.17207
|
|
NM_016169.4(SUFU):c.*1373C>T
|
rs17114808
|
0.14776
|
|
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_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
|
NM_003002.4(SDHD):c.170-29A>G
|
rs9919624
|
0.11431
|
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
|
NM_003000.3(SDHB):c.200+33G>A
|
rs2647169
|
0.10785
|
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
|
NM_004168.4(SDHA):c.1908+15C>T
|
rs34504623
|
0.08152
|
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
|
NM_003072.5(SMARCA4):c.1944-19G>T
|
rs74942410
|
0.06144
|
|
NM_002412.5(MGMT):c.-28C>T
|
rs16906252
|
0.05114
|
|
NM_016169.4(SUFU):c.-178C>T
|
rs113962600
|
0.05045
|
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
|
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_003072.5(SMARCA4):c.4584C>T (p.Asp1528=)
|
rs9105
|
0.04127
|
|
NM_003072.5(SMARCA4):c.356-14A>G
|
rs111447132
|
0.03865
|
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
|
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_003072.5(SMARCA4):c.1413G>A (p.Lys471=)
|
rs17001073
|
0.03431
|
|
NM_016169.4(SUFU):c.*1675G>A
|
rs41287466
|
0.03346
|
|
NM_003977.4(AIP):c.516C>T (p.Asp172=)
|
rs2276020
|
0.03152
|
|
NM_003072.5(SMARCA4):c.2123+12C>T
|
rs17001090
|
0.03024
|
|
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=)
|
rs17001075
|
0.03015
|
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
|
NM_003977.4(AIP):c.132C>T (p.Asp44=)
|
rs11822907
|
0.02357
|
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
|
NM_017841.4(SDHAF2):c.36+10G>A
|
rs114207859
|
0.01460
|
|
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=)
|
rs149573400
|
0.01397
|
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
|
NM_003001.5(SDHC):c.-32T>C
|
rs115782155
|
0.01342
|
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
|
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_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
|
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_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
|
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)
|
rs146141457
|
0.00837
|
|
NM_016169.4(SUFU):c.*118C>T
|
rs2298277
|
0.00835
|
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
|
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_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
|
NM_003072.5(SMARCA4):c.4768+16G>T
|
rs151265814
|
0.00684
|
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
|
NM_016169.4(SUFU):c.*3290C>G
|
rs112808377
|
0.00612
|
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
|
NM_003977.4(AIP):c.*64G>A
|
rs115346238
|
0.00596
|
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
|
NM_016169.4(SUFU):c.-33C>T
|
rs201649559
|
0.00587
|
|
NM_004168.4(SDHA):c.312+20C>T
|
rs111533078
|
0.00586
|
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
|
NM_003072.5(SMARCA4):c.2002-19T>C
|
rs111899994
|
0.00578
|
|
NM_003977.4(AIP):c.*60G>C
|
rs146014363
|
0.00566
|
|
NM_003072.5(SMARCA4):c.222+14T>C
|
rs112825147
|
0.00548
|
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
|
NM_003977.4(AIP):c.891C>A (p.Ala297=)
|
rs35665586
|
0.00545
|
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
|
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_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)
|
rs114882905
|
0.00462
|
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
|
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=)
|
rs139505007
|
0.00434
|
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
|
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_016169.4(SUFU):c.*2720C>T
|
rs41287468
|
0.00417
|
|
NM_016169.4(SUFU):c.*505T>G
|
rs116570216
|
0.00412
|
|
NM_003000.3(SDHB):c.-37T>C
|
rs143031690
|
0.00411
|
|
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_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
|
NM_003072.5(SMARCA4):c.1119-12C>T
|
rs113870824
|
0.00387
|
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
|
NM_003072.5(SMARCA4):c.222+18C>T
|
rs180832203
|
0.00381
|
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
|
NM_003072.5(SMARCA4):c.1140C>T (p.His380=)
|
rs114594206
|
0.00372
|
|
NM_016169.4(SUFU):c.*2172G>A
|
rs540579682
|
0.00367
|
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
|
NM_016169.4(SUFU):c.*3268G>C
|
rs150653416
|
0.00308
|
|
NM_004168.4(SDHA):c.1664-24del
|
rs534296796
|
0.00297
|
|
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_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
|
NM_016169.4(SUFU):c.*61G>A
|
rs184505927
|
0.00249
|
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
|
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)
|
rs113955216
|
0.00241
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00233
|
|
NM_003079.5(SMARCE1):c.369+12G>T
|
rs58739414
|
0.00232
|
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
|
NM_000268.4(NF2):c.*359G>A
|
rs572307337
|
0.00217
|
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_003072.5(SMARCA4):c.4768+10G>A
|
rs201665695
|
0.00200
|
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
|
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_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
|
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=)
|
rs61761957
|
0.00158
|
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
|
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)
|
rs11573598
|
0.00155
|
|
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)
|
rs115992445
|
0.00153
|
|
NM_016169.4(SUFU):c.528C>T (p.His176=)
|
rs150569584
|
0.00148
|
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
|
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_003977.4(AIP):c.68G>A (p.Gly23Glu)
|
rs116940576
|
0.00115
|
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
|
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu)
|
rs148425779
|
0.00108
|
|
NM_003072.5(SMARCA4):c.4171-1737T>A
|
rs199543083
|
0.00107
|
|
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_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
|
NM_003977.4(AIP):c.-84C>G
|
rs540839310
|
0.00086
|
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
|
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_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
|
NM_004168.4(SDHA):c.1260+13G>T
|
rs185239026
|
0.00076
|
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_000314.8(PTEN):c.-666G>A
|
rs553371022
|
0.00069
|
|
NM_001904.4(CTNNB1):c.1683+17A>G
|
rs2276826
|
0.00068
|
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00066
|
|
NM_003079.5(SMARCE1):c.1101G>A (p.Lys367=)
|
rs148666451
|
0.00066
|
|
NM_016169.4(SUFU):c.*476A>G
|
rs575192580
|
0.00066
|
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
|
NM_003977.4(AIP):c.-23A>G
|
rs200665479
|
0.00064
|
|
NM_004168.4(SDHA):c.894A>G (p.Thr298=)
|
rs774584410
|
0.00061
|
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
|
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)
|
rs141230910
|
0.00057
|
|
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
|
NM_004168.4(SDHA):c.600A>G (p.Leu200=)
|
rs201967413
|
0.00056
|
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
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_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
|
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)
|
rs149874634
|
0.00051
|
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
|
NM_001370259.2(MEN1):c.*470A>G
|
rs778272737
|
0.00048
|
|
NM_003079.5(SMARCE1):c.1028-18A>G
|
rs202149619
|
0.00048
|
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
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_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
|
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
0.00046
|
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
|
NM_016169.4(SUFU):c.*2729T>C
|
rs574630127
|
0.00045
|
|
NM_001126049.2(KLLN):c.-792C>T
|
rs587779982
|
0.00044
|
|
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)
|
rs62639303
|
0.00044
|
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
|
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=)
|
rs149613910
|
0.00041
|
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
|
NM_003000.3(SDHB):c.287-26A>G
|
rs201397253
|
0.00040
|
|
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)
|
rs139943231
|
0.00039
|
|
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
|
rs36049457
|
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_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
|
NM_003072.5(SMARCA4):c.2973+14G>A
|
rs372877301
|
0.00034
|
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
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_016169.4(SUFU):c.*2956C>T
|
rs562546771
|
0.00033
|
|
NM_003001.5(SDHC):c.20+22G>C
|
rs182261879
|
0.00032
|
|
NM_003072.5(SMARCA4):c.355+11G>A
|
rs368761916
|
0.00032
|
|
NM_003079.5(SMARCE1):c.157-4G>A
|
rs141832779
|
0.00032
|
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
|
NM_016169.4(SUFU):c.198C>T (p.Asp66=)
|
rs189500468
|
0.00031
|
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
|
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
|
rs201879930
|
0.00030
|
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_003072.5(SMARCA4):c.3903C>T (p.Thr1301=)
|
rs147314370
|
0.00029
|
|
NM_016169.4(SUFU):c.318-17C>A
|
rs201198734
|
0.00029
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_001375883.1(GPR161):c.-5T>A
|
rs200635937
|
0.00028
|
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
|
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=)
|
rs138764713
|
0.00028
|
|
NM_003072.5(SMARCA4):c.1245+18C>T
|
rs376247014
|
0.00027
|
|
NM_016169.4(SUFU):c.*1936C>T
|
rs118033896
|
0.00027
|
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_003001.5(SDHC):c.405+23C>T
|
rs373731336
|
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_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
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_004168.4(SDHA):c.895+13G>A
|
rs201461936
|
0.00025
|
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
|
NM_003079.5(SMARCE1):c.300T>A (p.Ile100=)
|
rs143363725
|
0.00024
|
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00024
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_003001.5(SDHC):c.78-19C>T
|
rs144770080
|
0.00023
|
|
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=)
|
rs145435121
|
0.00023
|
|
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
|
rs202038275
|
0.00023
|
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
|
NM_000516.7(GNAS):c.312+17T>C
|
rs78999525
|
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_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
|
NM_003072.5(SMARCA4):c.1419+4C>T
|
rs370219784
|
0.00021
|
|
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)
|
rs756224211
|
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_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
|
NM_003072.5(SMARCA4):c.2275-10G>A
|
rs375787249
|
0.00020
|
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
|
NM_003001.5(SDHC):c.342C>T (p.His114=)
|
rs143730978
|
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_004168.4(SDHA):c.1569T>C (p.Ala523=)
|
rs150192376
|
0.00019
|
|
NM_016169.4(SUFU):c.*2140G>T
|
rs543282016
|
0.00019
|
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
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_016169.4(SUFU):c.1308C>T (p.Thr436=)
|
rs142029957
|
0.00018
|
|
NM_000516.7(GNAS):c.530+11G>A
|
rs74474807
|
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_004168.4(SDHA):c.918C>G (p.Leu306=)
|
rs138828792
|
0.00017
|
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
|
NM_000268.4(NF2):c.114+20G>T
|
rs746868503
|
0.00016
|
|
NM_003000.3(SDHB):c.642+17T>C
|
rs200597595
|
0.00016
|
|
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)
|
rs141802836
|
0.00016
|
|
NM_003072.5(SMARCA4):c.2860-14T>C
|
rs191509662
|
0.00016
|
|
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=)
|
rs201372858
|
0.00016
|
|
NM_003079.5(SMARCE1):c.1122C>T (p.Val374=)
|
rs144057094
|
0.00016
|
|
NM_003079.5(SMARCE1):c.894A>G (p.Lys298=)
|
rs759780963
|
0.00016
|
|
NM_003079.5(SMARCE1):c.933T>C (p.Ala311=)
|
rs141470385
|
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_003977.4(AIP):c.753G>A (p.Leu251=)
|
rs147351993
|
0.00016
|
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
|
NM_016169.4(SUFU):c.255C>T (p.Pro85=)
|
rs113671745
|
0.00016
|
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
|
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=)
|
rs746415437
|
0.00015
|
|
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)
|
rs140414666
|
0.00015
|
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
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_004168.4(SDHA):c.1064+10A>G
|
rs773168516
|
0.00014
|
|
NM_004168.4(SDHA):c.1552-15T>C
|
rs543628983
|
0.00014
|
|
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)
|
rs140243793
|
0.00014
|
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
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_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
|
NM_000516.7(GNAS):c.1038+17_1038+20del
|
rs773644530
|
0.00013
|
|
NM_000516.7(GNAS):c.213-11C>T
|
rs369370389
|
0.00013
|
|
NM_001126049.2(KLLN):c.-777C>T
|
rs961642255
|
0.00013
|
|
NM_001370259.2(MEN1):c.913-42G>C
|
rs529037188
|
0.00013
|
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
|
NM_003072.5(SMARCA4):c.690C>T (p.Pro230=)
|
rs372941839
|
0.00013
|
|
NM_003977.4(AIP):c.906G>A (p.Val302=)
|
rs142912418
|
0.00013
|
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
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_003079.5(SMARCE1):c.369+10G>C
|
rs199790447
|
0.00012
|
|
NM_003079.5(SMARCE1):c.579C>T (p.Thr193=)
|
rs201484943
|
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_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
|
NM_004168.4(SDHA):c.1770C>T (p.Gly590=)
|
rs142457602
|
0.00012
|
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
|
NM_004304.5(ALK):c.1283-5T>C
|
rs377214413
|
0.00012
|
|
NM_016169.4(SUFU):c.1297-13T>C
|
rs557592503
|
0.00012
|
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
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_003977.4(AIP):c.974G>A (p.Arg325Gln)
|
rs754619109
|
0.00011
|
|
NM_004168.4(SDHA):c.621+16T>C
|
rs769390635
|
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_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
|
NM_001387283.1(SMARCA4):c.4211T>G (p.Val1404Gly)
|
rs200469979
|
0.00010
|
|
NM_003000.3(SDHB):c.113G>A (p.Arg38His)
|
rs143058777
|
0.00010
|
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
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_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)
|
rs542193901
|
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_016169.4(SUFU):c.*2195G>T
|
rs781227748
|
0.00010
|
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
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_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_003000.3(SDHB):c.423C>T (p.Pro141=)
|
rs150542357
|
0.00009
|
|
NM_003000.3(SDHB):c.543C>T (p.Asp181=)
|
rs199809975
|
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_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_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
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_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
|
NM_003001.5(SDHC):c.405+13G>A
|
rs369274171
|
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_003079.5(SMARCE1):c.999A>G (p.Lys333=)
|
rs372423633
|
0.00008
|
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
0.00008
|
|
NM_003977.4(AIP):c.205A>G (p.Lys69Glu)
|
rs141223463
|
0.00008
|
|
NM_004168.4(SDHA):c.1089C>T (p.His363=)
|
rs368488126
|
0.00008
|
|
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)
|
rs746453879
|
0.00008
|
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
|
NM_004168.4(SDHA):c.552G>A (p.Gly184=)
|
rs147444427
|
0.00008
|
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
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_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
|
NM_003000.3(SDHB):c.225T>C (p.Ala75=)
|
rs201762207
|
0.00007
|
|
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
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_003079.5(SMARCE1):c.135G>A (p.Pro45=)
|
rs148373393
|
0.00007
|
|
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His)
|
rs201577008
|
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_003977.4(AIP):c.572G>A (p.Arg191His)
|
rs141826817
|
0.00007
|
|
NM_003977.4(AIP):c.609C>T (p.Tyr203=)
|
rs146317385
|
0.00007
|
|
NM_004168.4(SDHA):c.1065-4C>A
|
rs575007678
|
0.00007
|
|
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)
|
rs371274523
|
0.00007
|
|
NM_004168.4(SDHA):c.770+12A>G
|
rs201245536
|
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_016169.4(SUFU):c.1023-20T>C
|
rs373445321
|
0.00007
|
|
NM_016169.4(SUFU):c.625C>T (p.His209Tyr)
|
rs770678862
|
0.00007
|
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
|
NM_022124.6(CDH23):c.336+1G>A
|
rs764824311
|
0.00007
|
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
|
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_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
|
NM_003001.5(SDHC):c.179+10G>A
|
rs532455044
|
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_003079.5(SMARCE1):c.1017G>A (p.Pro339=)
|
rs372446330
|
0.00006
|
|
NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser)
|
rs151220618
|
0.00006
|
|
NM_003079.5(SMARCE1):c.1133C>T (p.Ala378Val)
|
rs771281023
|
0.00006
|
|
NM_003079.5(SMARCE1):c.1209C>T (p.Pro403=)
|
rs761485678
|
0.00006
|
|
NM_003079.5(SMARCE1):c.921C>T (p.Ala307=)
|
rs888776519
|
0.00006
|
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
|
NM_003977.4(AIP):c.967C>T (p.Arg323Trp)
|
rs188965257
|
0.00006
|
|
NM_004168.4(SDHA):c.-5C>T
|
rs572126995
|
0.00006
|
|
NM_004168.4(SDHA):c.1064+4C>T
|
rs768276870
|
0.00006
|
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
|
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe)
|
rs748683825
|
0.00006
|
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
|
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
|
rs781660628
|
0.00006
|
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
|
NM_004304.5(ALK):c.2633-3C>T
|
rs200341945
|
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_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00006
|
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00006
|
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
|
NM_000516.7(GNAS):c.1039-4G>A
|
rs575570315
|
0.00005
|
|
NM_000516.7(GNAS):c.576G>T (p.Pro192=)
|
rs558915293
|
0.00005
|
|
NM_001387283.1(SMARCA4):c.4174A>G (p.Ile1392Val)
|
rs370424312
|
0.00005
|
|
NM_003000.3(SDHB):c.200+7A>G
|
rs371329778
|
0.00005
|
|
NM_003000.3(SDHB):c.606C>T (p.Asn202=)
|
rs199653121
|
0.00005
|
|
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
|
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
0.00005
|
|
NM_003001.5(SDHC):c.450G>A (p.Gln150=)
|
rs749159544
|
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_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp)
|
rs773859296
|
0.00005
|
|
NM_003079.5(SMARCE1):c.1167G>A (p.Ser389=)
|
rs755995632
|
0.00005
|
|
NM_003079.5(SMARCE1):c.954C>T (p.Ile318=)
|
rs376628666
|
0.00005
|
|
NM_003079.5(SMARCE1):c.963G>A (p.Glu321=)
|
rs753203502
|
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.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
|
NM_004168.4(SDHA):c.1176C>T (p.Gly392=)
|
rs1041950
|
0.00005
|
|
NM_004168.4(SDHA):c.1299C>T (p.Pro433=)
|
rs144473374
|
0.00005
|
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
|
NM_004168.4(SDHA):c.1653G>A (p.Thr551=)
|
rs761927291
|
0.00005
|
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
0.00005
|
|
NM_004168.4(SDHA):c.408G>A (p.Gln136=)
|
rs190477316
|
0.00005
|
|
NM_004168.4(SDHA):c.51G>A (p.Ala17=)
|
rs764698195
|
0.00005
|
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
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_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
|
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)
|
rs765540111
|
0.00004
|
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
|
NM_000516.7(GNAS):c.684C>T (p.Arg228=)
|
rs147984566
|
0.00004
|
|
NM_000516.7(GNAS):c.936T>C (p.Phe312=)
|
rs764458531
|
0.00004
|
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
|
NM_001126049.2(KLLN):c.-1039G>A
|
rs587779999
|
0.00004
|
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
|
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)
|
rs776564488
|
0.00004
|
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
|
NM_003000.3(SDHB):c.530G>A (p.Arg177His)
|
rs150437793
|
0.00004
|
|
NM_003000.3(SDHB):c.552C>T (p.Tyr184=)
|
rs202098600
|
0.00004
|
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
|
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp)
|
rs978019587
|
0.00004
|
|
NM_003001.5(SDHC):c.198G>A (p.Ala66=)
|
rs763628960
|
0.00004
|
|
NM_003001.5(SDHC):c.20+8C>T
|
rs773661299
|
0.00004
|
|
NM_003001.5(SDHC):c.242-15T>C
|
rs961762320
|
0.00004
|
|
NM_003001.5(SDHC):c.282G>A (p.Gly94=)
|
rs536197277
|
0.00004
|
|
NM_003001.5(SDHC):c.444A>C (p.Leu148=)
|
rs377230417
|
0.00004
|
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
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_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys)
|
rs377136485
|
0.00004
|
|
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=)
|
rs767262463
|
0.00004
|
|
NM_003079.5(SMARCE1):c.1173C>T (p.Ser391=)
|
rs377096761
|
0.00004
|
|
NM_003079.5(SMARCE1):c.1226A>G (p.Lys409Arg)
|
rs770346178
|
0.00004
|
|
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)
|
rs771308672
|
0.00004
|
|
NM_003079.5(SMARCE1):c.57G>T (p.Met19Ile)
|
rs142279746
|
0.00004
|
|
NM_003079.5(SMARCE1):c.642C>T (p.Asp214=)
|
rs186493032
|
0.00004
|
|
NM_003079.5(SMARCE1):c.715-6T>G
|
rs560583293
|
0.00004
|
|
NM_003079.5(SMARCE1):c.817-18C>G
|
rs774207941
|
0.00004
|
|
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser)
|
rs745448272
|
0.00004
|
|
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr)
|
rs372988818
|
0.00004
|
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
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.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.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_003977.4(AIP):c.135C>T (p.Asp45=)
|
rs181969066
|
0.00004
|
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
|
NM_003977.4(AIP):c.584T>C (p.Val195Ala)
|
rs267606561
|
0.00004
|
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
|
NM_003977.4(AIP):c.70G>C (p.Glu24Gln)
|
rs267606568
|
0.00004
|
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
|
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)
|
rs201341132
|
0.00004
|
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
|
NM_004168.4(SDHA):c.1260+17C>G
|
rs750384205
|
0.00004
|
|
NM_004168.4(SDHA):c.1311C>T (p.Ala437=)
|
rs377506772
|
0.00004
|
|
NM_004168.4(SDHA):c.1428G>A (p.Arg476=)
|
rs377415114
|
0.00004
|
|
NM_004168.4(SDHA):c.1432+7G>C
|
rs760526397
|
0.00004
|
|
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp)
|
rs397514541
|
0.00004
|
|
NM_004168.4(SDHA):c.1572C>T (p.Ala524=)
|
rs185679709
|
0.00004
|
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
|
NM_004168.4(SDHA):c.1929C>T (p.Pro643=)
|
rs761201589
|
0.00004
|
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
|
NM_004168.4(SDHA):c.300T>C (p.Thr100=)
|
rs771662494
|
0.00004
|
|
NM_004168.4(SDHA):c.313-7T>C
|
rs201972549
|
0.00004
|
|
NM_004168.4(SDHA):c.372C>T (p.Tyr124=)
|
rs754393360
|
0.00004
|
|
NM_004168.4(SDHA):c.444C>T (p.Ala148=)
|
rs367618662
|
0.00004
|
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
|
NM_004168.4(SDHA):c.456+9C>T
|
rs200565489
|
0.00004
|
|
NM_004168.4(SDHA):c.457-4A>G
|
rs770052391
|
0.00004
|
|
NM_004168.4(SDHA):c.513T>C (p.Arg171=)
|
rs765157205
|
0.00004
|
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
|
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)
|
rs755432673
|
0.00004
|
|
NM_004168.4(SDHA):c.705C>T (p.Ile235=)
|
rs549892491
|
0.00004
|
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
|
NM_004168.4(SDHA):c.957T>C (p.Ile319=)
|
rs757167466
|
0.00004
|
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
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_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
|
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)
|
rs532255760
|
0.00004
|
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00004
|
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
0.00003
|
|
NM_001126049.2(KLLN):c.-845C>T
|
rs587782068
|
0.00003
|
|
NM_001256071.3(RNF213):c.12841C>T (p.Arg4281Trp)
|
rs765980348
|
0.00003
|
|
NM_001370259.2(MEN1):c.*412G>A
|
rs972128957
|
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_001933.5(DLST):c.1121G>A (p.Gly374Glu)
|
rs1270341616
|
0.00003
|
|
NM_002070.4(GNAI2):c.879G>A (p.Gly293=)
|
rs143863348
|
0.00003
|
|
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
|
NM_003000.3(SDHB):c.200+4A>C
|
rs774908929
|
0.00003
|
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
|
NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)
|
rs200973284
|
0.00003
|
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
|
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)
|
rs201928318
|
0.00003
|
|
NM_003000.3(SDHB):c.650G>A (p.Arg217His)
|
rs747518441
|
0.00003
|
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
|
NM_003000.3(SDHB):c.828G>A (p.Lys276=)
|
rs1260768784
|
0.00003
|
|
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu)
|
rs1363555121
|
0.00003
|
|
NM_003001.5(SDHC):c.241+7A>G
|
rs878854586
|
0.00003
|
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
|
NM_003001.5(SDHC):c.461T>C (p.Val154Ala)
|
rs1378160712
|
0.00003
|
|
NM_003001.5(SDHC):c.99G>A (p.Thr33=)
|
rs145535502
|
0.00003
|
|
NM_003001.5(SDHC):c.99G>T (p.Thr33=)
|
rs145535502
|
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_003079.5(SMARCE1):c.1002C>G (p.Asp334Glu)
|
rs750483952
|
0.00003
|
|
NM_003079.5(SMARCE1):c.1019T>C (p.Met340Thr)
|
rs746602244
|
0.00003
|
|
NM_003079.5(SMARCE1):c.168T>C (p.Gly56=)
|
rs773059312
|
0.00003
|
|
NM_003079.5(SMARCE1):c.207G>A (p.Pro69=)
|
rs373563447
|
0.00003
|
|
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=)
|
rs746320191
|
0.00003
|
|
NM_003079.5(SMARCE1):c.531A>G (p.Glu177=)
|
rs377424178
|
0.00003
|
|
NM_003079.5(SMARCE1):c.542-11G>A
|
rs777566198
|
0.00003
|
|
NM_003079.5(SMARCE1):c.762G>A (p.Glu254=)
|
rs374977780
|
0.00003
|
|
NM_003079.5(SMARCE1):c.872A>G (p.Gln291Arg)
|
rs1307270981
|
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.2790T>C (p.Asn930=)
|
rs1057521262
|
0.00003
|
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
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.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00003
|
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00003
|
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
0.00003
|
|
NM_003977.4(AIP):c.-5G>C
|
rs267606562
|
0.00003
|
|
NM_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
|
NM_003977.4(AIP):c.563G>A (p.Arg188Gln)
|
rs866556486
|
0.00003
|
|
NM_003977.4(AIP):c.573C>T (p.Arg191=)
|
rs781545373
|
0.00003
|
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
|
NM_003977.4(AIP):c.965C>T (p.Ala322Val)
|
rs267606586
|
0.00003
|
|
NM_004168.4(SDHA):c.1215C>T (p.Thr405=)
|
rs762888704
|
0.00003
|
|
NM_004168.4(SDHA):c.1233C>T (p.Gly411=)
|
rs376530094
|
0.00003
|
|
NM_004168.4(SDHA):c.1260+20C>T
|
rs779828602
|
0.00003
|
|
NM_004168.4(SDHA):c.1272C>T (p.His424=)
|
rs754805626
|
0.00003
|
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
|
NM_004168.4(SDHA):c.1335G>A (p.Ser445=)
|
rs200223188
|
0.00003
|
|
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)
|
rs369321221
|
0.00003
|
|
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)
|
rs1301221379
|
0.00003
|
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
|
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)
|
rs979815942
|
0.00003
|
|
NM_004168.4(SDHA):c.1629T>C (p.Tyr543=)
|
rs747249998
|
0.00003
|
|
NM_004168.4(SDHA):c.1664-20G>A
|
rs1310666225
|
0.00003
|
|
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)
|
rs980397872
|
0.00003
|
|
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
|
rs771111180
|
0.00003
|
|
NM_004168.4(SDHA):c.1773G>A (p.Ala591=)
|
rs555028212
|
0.00003
|
|
NM_004168.4(SDHA):c.1782G>A (p.Arg594=)
|
rs751329013
|
0.00003
|
|
NM_004168.4(SDHA):c.1794+3G>C
|
rs375883981
|
0.00003
|
|
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)
|
rs774609159
|
0.00003
|
|
NM_004168.4(SDHA):c.18C>T (p.Gly6=)
|
rs775847689
|
0.00003
|
|
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)
|
rs760510019
|
0.00003
|
|
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
|
rs762128553
|
0.00003
|
|
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
|
rs376986935
|
0.00003
|
|
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)
|
rs758054627
|
0.00003
|
|
NM_004168.4(SDHA):c.1974G>T (p.Pro658=)
|
rs1042446
|
0.00003
|
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
|
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)
|
rs1324014370
|
0.00003
|
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
|
NM_004168.4(SDHA):c.441C>T (p.Pro147=)
|
rs201453889
|
0.00003
|
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
|
NM_004168.4(SDHA):c.770+9C>G
|
rs538621686
|
0.00003
|
|
NM_004168.4(SDHA):c.771-4C>T
|
rs1360537551
|
0.00003
|
|
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)
|
rs777167108
|
0.00003
|
|
NM_004168.4(SDHA):c.801G>A (p.Thr267=)
|
rs543630901
|
0.00003
|
|
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)
|
rs768366852
|
0.00003
|
|
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)
|
rs202057289
|
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_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
|
NM_017841.4(SDHAF2):c.6G>A (p.Ala2=)
|
rs747571875
|
0.00003
|
|
NM_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
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_000268.4(NF2):c.1012C>T (p.Arg338Cys)
|
rs761795291
|
0.00002
|
|
NM_000268.4(NF2):c.1447-11C>T
|
rs571246532
|
0.00002
|
|
NM_000268.4(NF2):c.515G>A (p.Arg172Lys)
|
rs752963731
|
0.00002
|
|
NM_000268.4(NF2):c.683A>G (p.Lys228Arg)
|
rs145384260
|
0.00002
|
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
|
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His)
|
rs775807962
|
0.00002
|
|
NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg)
|
rs771925230
|
0.00002
|
|
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val)
|
rs1194755479
|
0.00002
|
|
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)
|
rs200418115
|
0.00002
|
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
|
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)
|
rs771004483
|
0.00002
|
|
NM_003000.3(SDHB):c.41C>T (p.Pro14Leu)
|
rs764089231
|
0.00002
|
|
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)
|
rs149091125
|
0.00002
|
|
NM_003000.3(SDHB):c.540+15T>C
|
rs756714182
|
0.00002
|
|
NM_003000.3(SDHB):c.66C>T (p.Cys22=)
|
rs772853861
|
0.00002
|
|
NM_003000.3(SDHB):c.73-11A>C
|
rs927103985
|
0.00002
|
|
NM_003000.3(SDHB):c.736A>G (p.Ile246Val)
|
rs146800605
|
0.00002
|
|
NM_003000.3(SDHB):c.739A>G (p.Met247Val)
|
rs200896502
|
0.00002
|
|
NM_003000.3(SDHB):c.765+13G>A
|
rs115561881
|
0.00002
|
|
NM_003000.3(SDHB):c.765+5G>A
|
rs199945904
|
0.00002
|
|
NM_003000.3(SDHB):c.783A>G (p.Lys261=)
|
rs1060505014
|
0.00002
|
|
NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)
|
rs1273897502
|
0.00002
|
|
NM_003001.5(SDHC):c.*20T>G
|
rs587778662
|
0.00002
|
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
|
NM_003001.5(SDHC):c.264G>A (p.Ser88=)
|
rs1277488324
|
0.00002
|
|
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)
|
rs371462564
|
0.00002
|
|
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)
|
rs759914119
|
0.00002
|
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
|
NM_003001.5(SDHC):c.489T>C (p.Ser163=)
|
rs559747670
|
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.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
|
NM_003079.5(SMARCE1):c.1002C>T (p.Asp334=)
|
rs750483952
|
0.00002
|
|
NM_003079.5(SMARCE1):c.1005C>T (p.Asp335=)
|
rs1394131991
|
0.00002
|
|
NM_003079.5(SMARCE1):c.1010A>G (p.Asn337Ser)
|
rs765235194
|
0.00002
|
|
NM_003079.5(SMARCE1):c.1110G>A (p.Gly370=)
|
rs146475742
|
0.00002
|
|
NM_003079.5(SMARCE1):c.370-16A>C
|
rs773985049
|
0.00002
|
|
NM_003079.5(SMARCE1):c.443G>A (p.Arg148His)
|
rs755039445
|
0.00002
|
|
NM_003079.5(SMARCE1):c.490A>G (p.Met164Val)
|
rs752296357
|
0.00002
|
|
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu)
|
rs775997908
|
0.00002
|
|
NM_003079.5(SMARCE1):c.507G>A (p.Pro169=)
|
rs768018632
|
0.00002
|
|
NM_003079.5(SMARCE1):c.52-15A>G
|
rs534661500
|
0.00002
|
|
NM_003079.5(SMARCE1):c.573A>C (p.Thr191=)
|
rs1060504227
|
0.00002
|
|
NM_003079.5(SMARCE1):c.643G>A (p.Val215Ile)
|
rs376327613
|
0.00002
|
|
NM_003079.5(SMARCE1):c.822C>T (p.Cys274=)
|
rs769584665
|
0.00002
|
|
NM_003079.5(SMARCE1):c.860C>G (p.Ala287Gly)
|
rs201158885
|
0.00002
|
|
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys)
|
rs925142025
|
0.00002
|
|
NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys)
|
rs755389218
|
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.1672A>G (p.Ile558Val)
|
rs772705478
|
0.00002
|
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
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.3026T>C (p.Phe1009Ser)
|
rs750563722
|
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.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
0.00002
|
|
NM_003977.4(AIP):c.366C>T (p.Cys122=)
|
rs748883061
|
0.00002
|
|
NM_003977.4(AIP):c.383G>A (p.Arg128His)
|
rs267606550
|
0.00002
|
|
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
|
rs104894194
|
0.00002
|
|
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)
|
rs138312605
|
0.00002
|
|
NM_003977.4(AIP):c.727G>T (p.Val243Leu)
|
rs1385147597
|
0.00002
|
|
NM_003977.4(AIP):c.784G>A (p.Asp262Asn)
|
rs758918509
|
0.00002
|
|
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
|
rs1006697477
|
0.00002
|
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
|
NM_004168.4(SDHA):c.1134G>A (p.Thr378=)
|
rs370002515
|
0.00002
|
|
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)
|
rs749309213
|
0.00002
|
|
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)
|
rs770719847
|
0.00002
|
|
NM_004168.4(SDHA):c.1146C>A (p.Gly382=)
|
rs768947225
|
0.00002
|
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
|
NM_004168.4(SDHA):c.1257G>A (p.Gly419=)
|
rs753410011
|
0.00002
|
|
NM_004168.4(SDHA):c.1350C>T (p.Asn450=)
|
rs533902090
|
0.00002
|
|
NM_004168.4(SDHA):c.1353C>G (p.Arg451=)
|
rs555342133
|
0.00002
|
|
NM_004168.4(SDHA):c.1356C>T (p.Leu452=)
|
rs748496836
|
0.00002
|
|
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
|
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln)
|
rs138277996
|
0.00002
|
|
NM_004168.4(SDHA):c.1419G>A (p.Glu473=)
|
rs898003329
|
0.00002
|
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
|
NM_004168.4(SDHA):c.1432+12C>T
|
rs377104463
|
0.00002
|
|
NM_004168.4(SDHA):c.1433-10T>C
|
rs1214392431
|
0.00002
|
|
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)
|
rs745592653
|
0.00002
|
|
NM_004168.4(SDHA):c.150+5G>T
|
rs770610694
|
0.00002
|
|
NM_004168.4(SDHA):c.150C>T (p.Ser50=)
|
rs140264486
|
0.00002
|
|
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
|
rs955444699
|
0.00002
|
|
NM_004168.4(SDHA):c.1551+17G>A
|
rs376232883
|
0.00002
|
|
NM_004168.4(SDHA):c.1552-9G>A
|
rs765624219
|
0.00002
|
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
|
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)
|
rs777622021
|
0.00002
|
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
|
NM_004168.4(SDHA):c.1656C>T (p.Phe552=)
|
rs1170030451
|
0.00002
|
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
0.00002
|
|
NM_004168.4(SDHA):c.1664-16C>G
|
rs763374204
|
0.00002
|
|
NM_004168.4(SDHA):c.1671C>A (p.Val557=)
|
rs767963713
|
0.00002
|
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
|
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)
|
rs1352756438
|
0.00002
|
|
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)
|
rs758252610
|
0.00002
|
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
|
NM_004168.4(SDHA):c.1737C>T (p.Ile579=)
|
rs201454617
|
0.00002
|
|
NM_004168.4(SDHA):c.1740C>T (p.Tyr580=)
|
rs3181540
|
0.00002
|
|
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr)
|
rs878854629
|
0.00002
|
|
NM_004168.4(SDHA):c.1755G>A (p.Arg585=)
|
rs760254364
|
0.00002
|
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
|
NM_004168.4(SDHA):c.1909-5T>C
|
rs1197849830
|
0.00002
|
|
NM_004168.4(SDHA):c.1950C>T (p.Asn650=)
|
rs1042430
|
0.00002
|
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
|
NM_004168.4(SDHA):c.447C>T (p.Ala149=)
|
rs752187837
|
0.00002
|
|
NM_004168.4(SDHA):c.456+17T>C
|
rs1350429949
|
0.00002
|
|
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
0.00002
|
|
NM_004168.4(SDHA):c.597G>A (p.Ser199=)
|
rs141874250
|
0.00002
|
|
NM_004168.4(SDHA):c.598C>T (p.Leu200=)
|
rs764307917
|
0.00002
|
|
NM_004168.4(SDHA):c.621+14C>T
|
rs776301796
|
0.00002
|
|
NM_004168.4(SDHA):c.621+15G>A
|
rs747737117
|
0.00002
|
|
NM_004168.4(SDHA):c.63+8C>T
|
rs766358430
|
0.00002
|
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
|
NM_004168.4(SDHA):c.825C>T (p.Asp275=)
|
rs1237373391
|
0.00002
|
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
|
NM_004168.4(SDHA):c.963T>C (p.Ser321=)
|
rs755235011
|
0.00002
|
|
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)
|
rs758494304
|
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_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
0.00002
|
|
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)
|
rs753474292
|
0.00002
|
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
0.00002
|
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
|
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys)
|
rs557257494
|
0.00002
|
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00002
|
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
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.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
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.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
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.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
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.7055C>T (p.Pro2352Leu)
|
rs80358934
|
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.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
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_000142.5(FGFR3):c.328C>T (p.Arg110Trp)
|
rs978856665
|
0.00001
|
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
|
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
|
rs1026724985
|
0.00001
|
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
|
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly)
|
rs74315504
|
0.00001
|
|
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys)
|
rs1294032875
|
0.00001
|
|
NM_000268.4(NF2):c.1446G>A (p.Pro482=)
|
rs753751373
|
0.00001
|
|
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr)
|
rs917012886
|
0.00001
|
|
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)
|
rs1049732514
|
0.00001
|
|
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys)
|
rs1240469044
|
0.00001
|
|
NM_000268.4(NF2):c.347A>G (p.His116Arg)
|
rs371373672
|
0.00001
|
|
NM_000268.4(NF2):c.595G>A (p.Ala199Thr)
|
rs1261707371
|
0.00001
|
|
NM_000268.4(NF2):c.674G>A (p.Arg225Gln)
|
rs543087642
|
0.00001
|
|
NM_000268.4(NF2):c.676-104G>A
|
rs1040559021
|
0.00001
|
|
NM_000268.4(NF2):c.713C>T (p.Ala238Val)
|
rs761195572
|
0.00001
|
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00001
|
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
|
NM_000516.7(GNAS):c.111C>T (p.Tyr37=)
|
rs749235261
|
0.00001
|
|
NM_000516.7(GNAS):c.136C>T (p.Leu46=)
|
rs775009418
|
0.00001
|
|
NM_000516.7(GNAS):c.258-7A>C
|
rs1183884518
|
0.00001
|
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
|
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)
|
rs148924904
|
0.00001
|
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
|
NM_000546.6(TP53):c.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
|
NM_001349798.2(FBXW7):c.1973G>A (p.Arg658Gln)
|
rs759610249
|
0.00001
|
|
NM_001370259.2(MEN1):c.784-129T>A
|
rs536461697
|
0.00001
|
|
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg)
|
rs1412562086
|
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_002608.4(PDGFB):c.716T>C (p.Leu239Pro)
|
rs1932148548
|
0.00001
|
|
NM_003000.3(SDHB):c.123A>G (p.Lys41=)
|
rs137877851
|
0.00001
|
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
|
NM_003000.3(SDHB):c.144C>T (p.Asp48=)
|
rs1553178737
|
0.00001
|
|
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)
|
rs760565241
|
0.00001
|
|
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)
|
rs764843485
|
0.00001
|
|
NM_003000.3(SDHB):c.171T>C (p.His57=)
|
rs1280868219
|
0.00001
|
|
NM_003000.3(SDHB):c.172A>G (p.Met58Val)
|
rs1201188410
|
0.00001
|
|
NM_003000.3(SDHB):c.183T>C (p.Tyr61=)
|
rs760169139
|
0.00001
|
|
NM_003000.3(SDHB):c.186A>G (p.Glu62=)
|
rs876658473
|
0.00001
|
|
NM_003000.3(SDHB):c.19C>T (p.Leu7Phe)
|
rs745664191
|
0.00001
|
|
NM_003000.3(SDHB):c.201-10T>C
|
rs761461907
|
0.00001
|
|
NM_003000.3(SDHB):c.205G>A (p.Gly69Ser)
|
rs1131691048
|
0.00001
|
|
NM_003000.3(SDHB):c.208C>A (p.Pro70Thr)
|
rs200890320
|
0.00001
|
|
NM_003000.3(SDHB):c.214G>A (p.Val72Ile)
|
rs1060503766
|
0.00001
|
|
NM_003000.3(SDHB):c.217T>C (p.Leu73=)
|
rs763734164
|
0.00001
|
|
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
|
NM_003000.3(SDHB):c.22T>C (p.Ser8Pro)
|
rs777447369
|
0.00001
|
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
|
NM_003000.3(SDHB):c.286+16C>T
|
rs200305451
|
0.00001
|
|
NM_003000.3(SDHB):c.286+18G>A
|
rs1352485549
|
0.00001
|
|
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
|
rs587782243
|
0.00001
|
|
NM_003000.3(SDHB):c.287-12T>C
|
rs747263813
|
0.00001
|
|
NM_003000.3(SDHB):c.287-4T>C
|
rs200419171
|
0.00001
|
|
NM_003000.3(SDHB):c.287-7C>G
|
rs542180633
|
0.00001
|
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
|
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)
|
rs121917755
|
0.00001
|
|
NM_003000.3(SDHB):c.312C>T (p.Asn104=)
|
rs876660346
|
0.00001
|
|
NM_003000.3(SDHB):c.31C>T (p.Arg11Cys)
|
rs200868378
|
0.00001
|
|
NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)
|
rs767062764
|
0.00001
|
|
NM_003000.3(SDHB):c.33C>T (p.Arg11=)
|
rs146399542
|
0.00001
|
|
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)
|
rs751000085
|
0.00001
|
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
|
NM_003000.3(SDHB):c.34C>A (p.Arg12=)
|
rs761996626
|
0.00001
|
|
NM_003000.3(SDHB):c.350T>C (p.Ile117Thr)
|
rs1553177755
|
0.00001
|
|
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)
|
rs11541234
|
0.00001
|
|
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)
|
rs775925040
|
0.00001
|
|
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)
|
rs1557741472
|
0.00001
|
|
NM_003000.3(SDHB):c.376A>G (p.Lys126Glu)
|
rs202095022
|
0.00001
|
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
|
NM_003000.3(SDHB):c.383A>G (p.Tyr128Cys)
|
rs772158627
|
0.00001
|
|
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)
|
rs201403014
|
0.00001
|
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
|
NM_003000.3(SDHB):c.424-11C>G
|
rs199523383
|
0.00001
|
|
NM_003000.3(SDHB):c.424-16T>G
|
rs754406155
|
0.00001
|
|
NM_003000.3(SDHB):c.424-20C>A
|
rs1164478186
|
0.00001
|
|
NM_003000.3(SDHB):c.424-4A>G
|
rs767878021
|
0.00001
|
|
NM_003000.3(SDHB):c.424-6C>T
|
rs376285522
|
0.00001
|
|
NM_003000.3(SDHB):c.42G>A (p.Pro14=)
|
rs760753435
|
0.00001
|
|
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)
|
rs1450956956
|
0.00001
|
|
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)
|
rs1396860069
|
0.00001
|
|
NM_003000.3(SDHB):c.464C>T (p.Pro155Leu)
|
rs1553177686
|
0.00001
|
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
0.00001
|
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
|
NM_003000.3(SDHB):c.488C>T (p.Ser163Phe)
|
rs769687734
|
0.00001
|
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
|
NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)
|
rs138979875
|
0.00001
|
|
NM_003000.3(SDHB):c.515A>G (p.Gln172Arg)
|
rs2077999528
|
0.00001
|
|
NM_003000.3(SDHB):c.519C>T (p.Ser173=)
|
rs768454654
|
0.00001
|
|
NM_003000.3(SDHB):c.51C>A (p.Thr17=)
|
rs550555402
|
0.00001
|
|
NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)
|
rs202203339
|
0.00001
|
|
NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)
|
rs201082445
|
0.00001
|
|
NM_003000.3(SDHB):c.536A>T (p.Lys179Ile)
|
rs1553177670
|
0.00001
|
|
NM_003000.3(SDHB):c.541-19C>G
|
rs781716730
|
0.00001
|
|
NM_003000.3(SDHB):c.541-3C>T
|
rs751920183
|
0.00001
|
|
NM_003000.3(SDHB):c.541-7C>T
|
rs201558574
|
0.00001
|
|
NM_003000.3(SDHB):c.541-9C>T
|
rs755367242
|
0.00001
|
|
NM_003000.3(SDHB):c.541G>A (p.Asp181Asn)
|
rs201385062
|
0.00001
|
|
NM_003000.3(SDHB):c.544G>T (p.Gly182Trp)
|
rs201928318
|
0.00001
|
|
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)
|
rs1045881797
|
0.00001
|
|
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)
|
rs199789177
|
0.00001
|
|
NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)
|
rs200535030
|
0.00001
|
|
NM_003000.3(SDHB):c.584G>C (p.Ser195Thr)
|
rs1570945866
|
0.00001
|
|
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)
|
rs1557749649
|
0.00001
|
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
|
NM_003000.3(SDHB):c.607G>A (p.Gly203Arg)
|
rs201517260
|
0.00001
|
|
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)
|
rs774266782
|
0.00001
|
|
NM_003000.3(SDHB):c.624G>T (p.Gly208=)
|
rs1214592422
|
0.00001
|
|
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)
|
rs1252727177
|
0.00001
|
|
NM_003000.3(SDHB):c.635T>A (p.Leu212His)
|
rs1307247907
|
0.00001
|
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
|
NM_003000.3(SDHB):c.642+11C>T
|
rs1321974936
|
0.00001
|
|
NM_003000.3(SDHB):c.642+14T>C
|
rs1400740755
|
0.00001
|
|
NM_003000.3(SDHB):c.642+15A>G
|
rs368427218
|
0.00001
|
|
NM_003000.3(SDHB):c.642+6G>A
|
rs1326333007
|
0.00001
|
|
NM_003000.3(SDHB):c.642+7T>C
|
rs747423037
|
0.00001
|
|
NM_003000.3(SDHB):c.643-4C>G
|
rs748796588
|
0.00001
|
|
NM_003000.3(SDHB):c.643-7T>C
|
rs374921867
|
0.00001
|
|
NM_003000.3(SDHB):c.644C>T (p.Ala215Val)
|
rs1060503761
|
0.00001
|
|
NM_003000.3(SDHB):c.645C>G (p.Ala215=)
|
rs1473312934
|
0.00001
|
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
|
NM_003000.3(SDHB):c.663C>T (p.Asp221=)
|
rs1475864409
|
0.00001
|
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
|
NM_003000.3(SDHB):c.696C>T (p.Ala232=)
|
rs779143585
|
0.00001
|
|
NM_003000.3(SDHB):c.700C>T (p.Leu234=)
|
rs201728852
|
0.00001
|
|
NM_003000.3(SDHB):c.705G>A (p.Gln235=)
|
rs1570944851
|
0.00001
|
|
NM_003000.3(SDHB):c.710C>G (p.Pro237Arg)
|
rs878854579
|
0.00001
|
|
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)
|
rs1131691046
|
0.00001
|
|
NM_003000.3(SDHB):c.72+18A>G
|
rs758905319
|
0.00001
|
|
NM_003000.3(SDHB):c.720A>G (p.Leu240=)
|
rs759446340
|
0.00001
|
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
|
NM_003000.3(SDHB):c.73-6T>A
|
rs1252798981
|
0.00001
|
|
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)
|
rs1131691058
|
0.00001
|
|
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
|
NM_003000.3(SDHB):c.765+4C>T
|
rs776039903
|
0.00001
|
|
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)
|
rs761295633
|
0.00001
|
|
NM_003000.3(SDHB):c.766-20T>C
|
rs750144449
|
0.00001
|
|
NM_003000.3(SDHB):c.766-9T>G
|
rs2077946427
|
0.00001
|
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
|
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)
|
rs1187293049
|
0.00001
|
|
NM_003000.3(SDHB):c.785C>T (p.Ala262Val)
|
rs776093267
|
0.00001
|
|
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)
|
rs2077946173
|
0.00001
|
|
NM_003000.3(SDHB):c.798C>G (p.Ile266Met)
|
rs760042733
|
0.00001
|
|
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)
|
rs765429934
|
0.00001
|
|
NM_003000.3(SDHB):c.809T>C (p.Met270Thr)
|
rs1557738263
|
0.00001
|
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
|
NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)
|
rs545681543
|
0.00001
|
|
NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)
|
rs1275426951
|
0.00001
|
|
NM_003000.3(SDHB):c.84A>G (p.Gly28=)
|
rs1337602604
|
0.00001
|
|
NM_003000.3(SDHB):c.87C>G (p.Ala29=)
|
rs2078100833
|
0.00001
|
|
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu)
|
rs746315913
|
0.00001
|
|
NM_003001.5(SDHC):c.114G>C (p.Met38Ile)
|
rs868556406
|
0.00001
|
|
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala)
|
rs1060501388
|
0.00001
|
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
|
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)
|
rs747349777
|
0.00001
|
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
|
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)
|
rs1277411736
|
0.00001
|
|
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)
|
rs771746264
|
0.00001
|
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
0.00001
|
|
NM_003001.5(SDHC):c.20+12G>C
|
rs1014189365
|
0.00001
|
|
NM_003001.5(SDHC):c.20+12_20+13insTA
|
rs1403146281
|
0.00001
|
|
NM_003001.5(SDHC):c.20+20G>T
|
rs763464678
|
0.00001
|
|
NM_003001.5(SDHC):c.20+3G>A
|
rs377566366
|
0.00001
|
|
NM_003001.5(SDHC):c.205A>G (p.Ile69Val)
|
rs753561812
|
0.00001
|
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
|
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)
|
rs1332910409
|
0.00001
|
|
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr)
|
rs149375851
|
0.00001
|
|
NM_003001.5(SDHC):c.23A>G (p.His8Arg)
|
rs776123707
|
0.00001
|
|
NM_003001.5(SDHC):c.242-17C>T
|
rs1672283295
|
0.00001
|
|
NM_003001.5(SDHC):c.242G>T (p.Gly81Val)
|
rs781756162
|
0.00001
|
|
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys)
|
rs1227520085
|
0.00001
|
|
NM_003001.5(SDHC):c.259A>C (p.Met87Leu)
|
rs756382502
|
0.00001
|
|
NM_003001.5(SDHC):c.25G>A (p.Val9Ile)
|
rs774768866
|
0.00001
|
|
NM_003001.5(SDHC):c.261G>T (p.Met87Ile)
|
rs1558182772
|
0.00001
|
|
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)
|
rs778212096
|
0.00001
|
|
NM_003001.5(SDHC):c.268C>G (p.Leu90Val)
|
rs771138203
|
0.00001
|
|
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys)
|
rs1347081665
|
0.00001
|
|
NM_003001.5(SDHC):c.295T>C (p.Tyr99His)
|
rs760678574
|
0.00001
|
|
NM_003001.5(SDHC):c.309G>A (p.Val103=)
|
rs768273090
|
0.00001
|
|
NM_003001.5(SDHC):c.312G>A (p.Lys104=)
|
rs1395923291
|
0.00001
|
|
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala)
|
rs1571890248
|
0.00001
|
|
NM_003001.5(SDHC):c.334C>G (p.Leu112Val)
|
rs1329297940
|
0.00001
|
|
NM_003001.5(SDHC):c.339C>T (p.Ile113=)
|
rs1047677628
|
0.00001
|
|
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)
|
rs1161002093
|
0.00001
|
|
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe)
|
rs1571890420
|
0.00001
|
|
NM_003001.5(SDHC):c.372C>T (p.Leu124=)
|
rs766007157
|
0.00001
|
|
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)
|
rs1060501387
|
0.00001
|
|
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
|
rs786203457
|
0.00001
|
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
|
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)
|
rs386833414
|
0.00001
|
|
NM_003001.5(SDHC):c.405+12C>T
|
rs575479448
|
0.00001
|
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
|
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe)
|
rs760986608
|
0.00001
|
|
NM_003001.5(SDHC):c.420A>G (p.Gly140=)
|
rs794727791
|
0.00001
|
|
NM_003001.5(SDHC):c.42C>T (p.Leu14=)
|
rs1331533952
|
0.00001
|
|
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr)
|
rs876659889
|
0.00001
|
|
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)
|
rs541660851
|
0.00001
|
|
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile)
|
rs773923942
|
0.00001
|
|
NM_003001.5(SDHC):c.47C>T (p.Ala16Val)
|
rs1558164567
|
0.00001
|
|
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)
|
rs200761743
|
0.00001
|
|
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)
|
rs781337432
|
0.00001
|
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
|
NM_003001.5(SDHC):c.77+3A>G
|
rs750363498
|
0.00001
|
|
NM_003001.5(SDHC):c.78-18G>A
|
rs780106501
|
0.00001
|
|
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)
|
rs748243732
|
0.00001
|
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
|
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)
|
rs878854588
|
0.00001
|
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
|
NM_003001.5(SDHC):c.9G>A (p.Ala3=)
|
rs749265569
|
0.00001
|
|
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)
|
rs779249550
|
0.00001
|
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
|
NM_003002.4(SDHD):c.331G>A (p.Val111Ile)
|
rs201869798
|
0.00001
|
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
0.00001
|
|
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)
|
rs1394514096
|
0.00001
|
|
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)
|
rs745732631
|
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.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.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_003079.5(SMARCE1):c.1003G>A (p.Asp335Asn)
|
rs767569116
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1015C>G (p.Pro339Ala)
|
rs1025768618
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1016C>T (p.Pro339Leu)
|
rs1060501398
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1027+15A>G
|
rs373998018
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1027+16C>A
|
rs779439710
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1027+20C>T
|
rs755475324
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1027+5C>G
|
rs771556643
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1028-7del
|
rs750699769
|
0.00001
|
|
NM_003079.5(SMARCE1):c.102C>T (p.Leu34=)
|
rs1567848949
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1039C>G (p.Leu347Val)
|
rs267604854
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys)
|
rs754993965
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1055A>G (p.Glu352Gly)
|
rs1198138077
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met)
|
rs766200637
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1083G>A (p.Thr361=)
|
rs760555858
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1090C>T (p.Pro364Ser)
|
rs1205865722
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)
|
rs746301638
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1125C>T (p.Asp375=)
|
rs1178049897
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val)
|
rs781353760
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1145C>T (p.Thr382Ile)
|
rs1314554797
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn)
|
rs1555605079
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1152T>C (p.Asp384=)
|
rs747192638
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro)
|
rs1270010378
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1165T>C (p.Ser389Pro)
|
rs758595837
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu)
|
rs376181802
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1185A>G (p.Thr395=)
|
rs2037060598
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1210A>G (p.Ile404Val)
|
rs751165188
|
0.00001
|
|
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala)
|
rs767835921
|
0.00001
|
|
NM_003079.5(SMARCE1):c.156+20C>T
|
rs759489225
|
0.00001
|
|
NM_003079.5(SMARCE1):c.157-5C>T
|
rs776664220
|
0.00001
|
|
NM_003079.5(SMARCE1):c.157-6T>C
|
rs759579237
|
0.00001
|
|
NM_003079.5(SMARCE1):c.173C>T (p.Thr58Met)
|
rs1353575590
|
0.00001
|
|
NM_003079.5(SMARCE1):c.174G>A (p.Thr58=)
|
rs201976136
|
0.00001
|
|
NM_003079.5(SMARCE1):c.232A>C (p.Arg78=)
|
rs1201043924
|
0.00001
|
|
NM_003079.5(SMARCE1):c.237+14A>T
|
rs2037158156
|
0.00001
|
|
NM_003079.5(SMARCE1):c.238-12T>C
|
rs529233633
|
0.00001
|
|
NM_003079.5(SMARCE1):c.238-15T>A
|
rs766494520
|
0.00001
|
|
NM_003079.5(SMARCE1):c.238-6T>C
|
rs1194551641
|
0.00001
|
|
NM_003079.5(SMARCE1):c.238-7T>C
|
rs1461647458
|
0.00001
|
|
NM_003079.5(SMARCE1):c.264C>T (p.Asn88=)
|
rs761400708
|
0.00001
|
|
NM_003079.5(SMARCE1):c.267T>C (p.Pro89=)
|
rs1460253575
|
0.00001
|
|
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu)
|
rs1415603265
|
0.00001
|
|
NM_003079.5(SMARCE1):c.357C>T (p.Tyr119=)
|
rs770298495
|
0.00001
|
|
NM_003079.5(SMARCE1):c.369+18A>G
|
rs778183973
|
0.00001
|
|
NM_003079.5(SMARCE1):c.370-8A>C
|
rs368298445
|
0.00001
|
|
NM_003079.5(SMARCE1):c.381T>C (p.Asn127=)
|
rs574039127
|
0.00001
|
|
NM_003079.5(SMARCE1):c.386C>A (p.Ser129Tyr)
|
rs769255223
|
0.00001
|
|
NM_003079.5(SMARCE1):c.405T>C (p.Asn135=)
|
rs888304315
|
0.00001
|
|
NM_003079.5(SMARCE1):c.411C>T (p.Pro137=)
|
rs777241499
|
0.00001
|
|
NM_003079.5(SMARCE1):c.440G>A (p.Ser147Asn)
|
rs779169160
|
0.00001
|
|
NM_003079.5(SMARCE1):c.455C>T (p.Ala152Val)
|
rs781231331
|
0.00001
|
|
NM_003079.5(SMARCE1):c.473G>A (p.Arg158Gln)
|
rs757138170
|
0.00001
|
|
NM_003079.5(SMARCE1):c.487C>T (p.Arg163Cys)
|
rs190432371
|
0.00001
|
|
NM_003079.5(SMARCE1):c.488G>A (p.Arg163His)
|
rs762623799
|
0.00001
|
|
NM_003079.5(SMARCE1):c.510C>T (p.Tyr170=)
|
rs2037142363
|
0.00001
|
|
NM_003079.5(SMARCE1):c.515G>A (p.Ser172Asn)
|
rs2037142277
|
0.00001
|
|
NM_003079.5(SMARCE1):c.516C>T (p.Ser172=)
|
rs771523560
|
0.00001
|
|
NM_003079.5(SMARCE1):c.517A>G (p.Ile173Val)
|
rs2037142228
|
0.00001
|
|
NM_003079.5(SMARCE1):c.522G>A (p.Gln174=)
|
rs761026520
|
0.00001
|
|
NM_003079.5(SMARCE1):c.544T>G (p.Tyr182Asp)
|
rs1429023644
|
0.00001
|
|
NM_003079.5(SMARCE1):c.549T>C (p.Asp183=)
|
rs752455835
|
0.00001
|
|
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val)
|
rs765003978
|
0.00001
|
|
NM_003079.5(SMARCE1):c.580G>A (p.Ala194Thr)
|
rs753397709
|
0.00001
|
|
NM_003079.5(SMARCE1):c.600C>T (p.His200=)
|
rs990075824
|
0.00001
|
|
NM_003079.5(SMARCE1):c.606C>G (p.Leu202=)
|
rs1243737488
|
0.00001
|
|
NM_003079.5(SMARCE1):c.647G>A (p.Arg216Gln)
|
rs1213211505
|
0.00001
|
|
NM_003079.5(SMARCE1):c.657C>T (p.Val219=)
|
rs1423245581
|
0.00001
|
|
NM_003079.5(SMARCE1):c.696G>A (p.Gln232=)
|
rs2293417
|
0.00001
|
|
NM_003079.5(SMARCE1):c.715-19G>A
|
rs775623781
|
0.00001
|
|
NM_003079.5(SMARCE1):c.716G>A (p.Arg239Gln)
|
rs1240408861
|
0.00001
|
|
NM_003079.5(SMARCE1):c.723A>G (p.Leu241=)
|
rs747447517
|
0.00001
|
|
NM_003079.5(SMARCE1):c.741A>C (p.Gln247His)
|
rs1356231337
|
0.00001
|
|
NM_003079.5(SMARCE1):c.784A>G (p.Ser262Gly)
|
rs1432681998
|
0.00001
|
|
NM_003079.5(SMARCE1):c.789A>G (p.Thr263=)
|
rs572351725
|
0.00001
|
|
NM_003079.5(SMARCE1):c.795A>G (p.Ser265=)
|
rs1193419924
|
0.00001
|
|
NM_003079.5(SMARCE1):c.817-16G>C
|
rs1042908466
|
0.00001
|
|
NM_003079.5(SMARCE1):c.817-3T>C
|
rs779984224
|
0.00001
|
|
NM_003079.5(SMARCE1):c.855T>C (p.Ile285=)
|
rs994303454
|
0.00001
|
|
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr)
|
rs1395650269
|
0.00001
|
|
NM_003079.5(SMARCE1):c.901G>A (p.Glu301Lys)
|
rs1442599198
|
0.00001
|
|
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val)
|
rs768536854
|
0.00001
|
|
NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys)
|
rs769672368
|
0.00001
|
|
NM_003079.5(SMARCE1):c.942T>C (p.Ser314=)
|
rs1317450309
|
0.00001
|
|
NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu)
|
rs1597742452
|
0.00001
|
|
NM_003079.5(SMARCE1):c.947G>A (p.Ser316Asn)
|
rs1307734637
|
0.00001
|
|
NM_003079.5(SMARCE1):c.956T>C (p.Val319Ala)
|
rs758831830
|
0.00001
|
|
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser)
|
rs1176390337
|
0.00001
|
|
NM_003079.5(SMARCE1):c.959C>T (p.Pro320Leu)
|
rs2037085756
|
0.00001
|
|
NM_003079.5(SMARCE1):c.986G>A (p.Gly329Asp)
|
rs2037085537
|
0.00001
|
|
NM_003079.5(SMARCE1):c.987C>T (p.Gly329=)
|
rs779268474
|
0.00001
|
|
NM_003079.5(SMARCE1):c.990G>A (p.Glu330=)
|
rs754175611
|
0.00001
|
|
NM_003640.5(ELP1):c.1190-4G>A
|
rs774965847
|
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.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.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
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.2547A>G (p.Pro849=)
|
rs764837607
|
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.3205T>C (p.Leu1069=)
|
rs112178985
|
0.00001
|
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
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.3855+18C>T
|
rs557015443
|
0.00001
|
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
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_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
0.00001
|
|
NM_003977.4(AIP):c.100-6C>A
|
rs539027647
|
0.00001
|
|
NM_003977.4(AIP):c.115C>T (p.Arg39Trp)
|
rs781366620
|
0.00001
|
|
NM_003977.4(AIP):c.140G>A (p.Gly47Asp)
|
rs1164577485
|
0.00001
|
|
NM_003977.4(AIP):c.144C>T (p.Thr48=)
|
rs772658134
|
0.00001
|
|
NM_003977.4(AIP):c.160C>T (p.Arg54Trp)
|
rs752553438
|
0.00001
|
|
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
|
rs267606538
|
0.00001
|
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
|
NM_003977.4(AIP):c.316C>T (p.Arg106Cys)
|
rs369414668
|
0.00001
|
|
NM_003977.4(AIP):c.419C>T (p.Ala140Val)
|
rs762219351
|
0.00001
|
|
NM_003977.4(AIP):c.468+3G>A
|
rs868823652
|
0.00001
|
|
NM_003977.4(AIP):c.469-17T>C
|
rs886037872
|
0.00001
|
|
NM_003977.4(AIP):c.476G>A (p.Ser159Asn)
|
rs536239840
|
0.00001
|
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
|
NM_003977.4(AIP):c.721A>G (p.Lys241Glu)
|
rs267606573
|
0.00001
|
|
NM_003977.4(AIP):c.73C>T (p.Leu25Phe)
|
rs777083581
|
0.00001
|
|
NM_003977.4(AIP):c.745G>A (p.Glu249Lys)
|
rs1313811815
|
0.00001
|
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
|
NM_003977.4(AIP):c.79G>C (p.Asp27His)
|
rs1024903808
|
0.00001
|
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
|
NM_003977.4(AIP):c.944A>C (p.Gln315Pro)
|
rs886048585
|
0.00001
|
|
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr)
|
rs1401459296
|
0.00001
|
|
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)
|
rs1553999043
|
0.00001
|
|
NM_004168.4(SDHA):c.1017T>C (p.Ser339=)
|
rs752738784
|
0.00001
|
|
NM_004168.4(SDHA):c.101A>G (p.His34Arg)
|
rs757478250
|
0.00001
|
|
NM_004168.4(SDHA):c.1026G>T (p.Val342=)
|
rs1060505004
|
0.00001
|
|
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)
|
rs1735563548
|
0.00001
|
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
|
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)
|
rs1560994934
|
0.00001
|
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
|
NM_004168.4(SDHA):c.1065-16T>C
|
rs765268601
|
0.00001
|
|
NM_004168.4(SDHA):c.1065-17G>A
|
rs1268945057
|
0.00001
|
|
NM_004168.4(SDHA):c.1065-7T>C
|
rs1426933226
|
0.00001
|
|
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser)
|
rs758817818
|
0.00001
|
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
|
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)
|
rs372738835
|
0.00001
|
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
|
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)
|
rs778069799
|
0.00001
|
|
NM_004168.4(SDHA):c.1110C>T (p.His370=)
|
rs1579406318
|
0.00001
|
|
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
|
rs377283167
|
0.00001
|
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
|
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
|
rs1224187912
|
0.00001
|
|
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)
|
rs777420907
|
0.00001
|
|
NM_004168.4(SDHA):c.1140G>C (p.Leu380=)
|
rs146348714
|
0.00001
|
|
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)
|
rs1272640628
|
0.00001
|
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
|
NM_004168.4(SDHA):c.1155G>A (p.Glu385=)
|
rs765356526
|
0.00001
|
|
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)
|
rs773218958
|
0.00001
|
|
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)
|
rs1316310818
|
0.00001
|
|
NM_004168.4(SDHA):c.1182C>T (p.Asp394=)
|
rs377317558
|
0.00001
|
|
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)
|
rs757251714
|
0.00001
|
|
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)
|
rs778667374
|
0.00001
|
|
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)
|
rs745798689
|
0.00001
|
|
NM_004168.4(SDHA):c.1194G>A (p.Glu398=)
|
rs1735703214
|
0.00001
|
|
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)
|
rs878854625
|
0.00001
|
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
|
NM_004168.4(SDHA):c.1197G>A (p.Pro399=)
|
rs771919335
|
0.00001
|
|
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)
|
rs769936006
|
0.00001
|
|
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)
|
rs1061520
|
0.00001
|
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
|
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)
|
rs1404377989
|
0.00001
|
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
|
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)
|
rs528628545
|
0.00001
|
|
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)
|
rs747557411
|
0.00001
|
|
NM_004168.4(SDHA):c.1260+15T>C
|
rs778457213
|
0.00001
|
|
NM_004168.4(SDHA):c.1260+4A>G
|
rs1060503702
|
0.00001
|
|
NM_004168.4(SDHA):c.1261-5C>A
|
rs751471707
|
0.00001
|
|
NM_004168.4(SDHA):c.1264C>T (p.Leu422=)
|
rs1405485459
|
0.00001
|
|
NM_004168.4(SDHA):c.1276A>C (p.Asn426His)
|
rs1735781689
|
0.00001
|
|
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
|
rs1579379865
|
0.00001
|
|
NM_004168.4(SDHA):c.1281C>T (p.Gly427=)
|
rs561918468
|
0.00001
|
|
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)
|
rs747488969
|
0.00001
|
|
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)
|
rs529198317
|
0.00001
|
|
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)
|
rs772729820
|
0.00001
|
|
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=)
|
rs762494024
|
0.00001
|
|
NM_004168.4(SDHA):c.1323C>T (p.Ala441=)
|
rs751561561
|
0.00001
|
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
|
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
|
rs1169286790
|
0.00001
|
|
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu)
|
rs76896145
|
0.00001
|
|
NM_004168.4(SDHA):c.1371C>A (p.Leu457=)
|
rs75091805
|
0.00001
|
|
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)
|
rs373021394
|
0.00001
|
|
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)
|
rs767452676
|
0.00001
|
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
|
NM_004168.4(SDHA):c.1398A>G (p.Ala466=)
|
rs878854626
|
0.00001
|
|
NM_004168.4(SDHA):c.1410C>T (p.Ser470=)
|
rs556476038
|
0.00001
|
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
|
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)
|
rs748567636
|
0.00001
|
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
|
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
|
rs146990772
|
0.00001
|
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
|
NM_004168.4(SDHA):c.1432+18G>C
|
rs763298397
|
0.00001
|
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
|
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)
|
rs759661610
|
0.00001
|
|
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)
|
rs1224049828
|
0.00001
|
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
|
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)
|
rs1208182306
|
0.00001
|
|
NM_004168.4(SDHA):c.1461C>T (p.Asn487=)
|
rs187540602
|
0.00001
|
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
|
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)
|
rs754324916
|
0.00001
|
|
NM_004168.4(SDHA):c.1476T>C (p.Ser492=)
|
rs1376968004
|
0.00001
|
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
|
NM_004168.4(SDHA):c.150+12C>T
|
rs773966272
|
0.00001
|
|
NM_004168.4(SDHA):c.150+18G>C
|
rs759611800
|
0.00001
|
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
|
NM_004168.4(SDHA):c.151-6T>A
|
rs1352062665
|
0.00001
|
|
NM_004168.4(SDHA):c.151-9C>T
|
rs1734881724
|
0.00001
|
|
NM_004168.4(SDHA):c.1524A>G (p.Thr508=)
|
rs1356814435
|
0.00001
|
|
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)
|
rs1251348764
|
0.00001
|
|
NM_004168.4(SDHA):c.1551+4A>G
|
rs928294715
|
0.00001
|
|
NM_004168.4(SDHA):c.1551+7G>C
|
rs760796714
|
0.00001
|
|
NM_004168.4(SDHA):c.1551G>A (p.Lys517=)
|
rs772822136
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-13T>C
|
rs1280763236
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-14A>G
|
rs762315793
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-16A>G
|
rs1418838846
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-3C>T
|
rs1222778933
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-7G>A
|
rs1351792129
|
0.00001
|
|
NM_004168.4(SDHA):c.1575G>A (p.Val525=)
|
rs766757653
|
0.00001
|
|
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys)
|
rs138723511
|
0.00001
|
|
NM_004168.4(SDHA):c.1590C>T (p.Ser530=)
|
rs1060503701
|
0.00001
|
|
NM_004168.4(SDHA):c.1596G>A (p.Leu532=)
|
rs1449742263
|
0.00001
|
|
NM_004168.4(SDHA):c.15G>A (p.Arg5=)
|
rs1260744894
|
0.00001
|
|
NM_004168.4(SDHA):c.1605T>C (p.Gly535=)
|
rs1219265731
|
0.00001
|
|
NM_004168.4(SDHA):c.1611G>A (p.Gly537=)
|
rs1060505009
|
0.00001
|
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
|
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)
|
rs778670859
|
0.00001
|
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
0.00001
|
|
NM_004168.4(SDHA):c.162G>A (p.Gln54=)
|
rs1468436658
|
0.00001
|
|
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)
|
rs1338347881
|
0.00001
|
|
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)
|
rs1267429398
|
0.00001
|
|
NM_004168.4(SDHA):c.1644C>T (p.His548=)
|
rs1126427
|
0.00001
|
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
|
NM_004168.4(SDHA):c.1663+19C>T
|
rs1214851392
|
0.00001
|
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
|
NM_004168.4(SDHA):c.1663+20T>C
|
rs1226482893
|
0.00001
|
|
NM_004168.4(SDHA):c.1664-13T>C
|
rs1057524514
|
0.00001
|
|
NM_004168.4(SDHA):c.1687G>A (p.Val563Met)
|
rs1736814459
|
0.00001
|
|
NM_004168.4(SDHA):c.1695C>G (p.Thr565=)
|
rs765113103
|
0.00001
|
|
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)
|
rs142936520
|
0.00001
|
|
NM_004168.4(SDHA):c.1707G>A (p.Gln569=)
|
rs959934068
|
0.00001
|
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
|
NM_004168.4(SDHA):c.1734C>G (p.Thr578=)
|
rs748328205
|
0.00001
|
|
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)
|
rs372707443
|
0.00001
|
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
|
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+17C>T
|
rs747352875
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+18G>A
|
rs768882490
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+19C>A
|
rs776409305
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+8T>A
|
rs1050394308
|
0.00001
|
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
|
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)
|
rs771593214
|
0.00001
|
|
NM_004168.4(SDHA):c.1818C>T (p.Tyr606=)
|
rs1226342299
|
0.00001
|
|
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)
|
rs1183122120
|
0.00001
|
|
NM_004168.4(SDHA):c.1827C>A (p.Pro609=)
|
rs1060505006
|
0.00001
|
|
NM_004168.4(SDHA):c.1860G>A (p.Glu620=)
|
rs1447230295
|
0.00001
|
|
NM_004168.4(SDHA):c.1879C>T (p.Leu627=)
|
rs1169965410
|
0.00001
|
|
NM_004168.4(SDHA):c.1881G>C (p.Leu627=)
|
rs1390181757
|
0.00001
|
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
|
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)
|
rs1392791825
|
0.00001
|
|
NM_004168.4(SDHA):c.1890G>C (p.Val630=)
|
rs1405784467
|
0.00001
|
|
NM_004168.4(SDHA):c.1893C>T (p.Asp631=)
|
rs1364764796
|
0.00001
|
|
NM_004168.4(SDHA):c.1908+5G>C
|
rs759574062
|
0.00001
|
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
|
NM_004168.4(SDHA):c.1909-18C>T
|
rs781153748
|
0.00001
|
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
|
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
|
rs370133236
|
0.00001
|
|
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)
|
rs1126697
|
0.00001
|
|
NM_004168.4(SDHA):c.1923T>C (p.Tyr641=)
|
rs1444319863
|
0.00001
|
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
|
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)
|
rs1420345359
|
0.00001
|
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
|
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)
|
rs60587941
|
0.00001
|
|
NM_004168.4(SDHA):c.1968C>T (p.Thr656=)
|
rs3211499
|
0.00001
|
|
NM_004168.4(SDHA):c.1971C>T (p.Val657=)
|
rs746083858
|
0.00001
|
|
NM_004168.4(SDHA):c.1974G>A (p.Pro658=)
|
rs1042446
|
0.00001
|
|
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr)
|
rs1554002911
|
0.00001
|
|
NM_004168.4(SDHA):c.198G>A (p.Val66=)
|
rs1429525714
|
0.00001
|
|
NM_004168.4(SDHA):c.19C>T (p.Leu7=)
|
rs760964443
|
0.00001
|
|
NM_004168.4(SDHA):c.219C>G (p.Gly73=)
|
rs776288745
|
0.00001
|
|
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)
|
rs751645963
|
0.00001
|
|
NM_004168.4(SDHA):c.228T>G (p.Ala76=)
|
rs1416043203
|
0.00001
|
|
NM_004168.4(SDHA):c.237C>T (p.Gly79=)
|
rs767927763
|
0.00001
|
|
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
|
NM_004168.4(SDHA):c.252G>T (p.Gly84=)
|
rs753293451
|
0.00001
|
|
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)
|
rs776218604
|
0.00001
|
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
|
NM_004168.4(SDHA):c.312+16C>T
|
rs771169259
|
0.00001
|
|
NM_004168.4(SDHA):c.312+5G>A
|
rs1384659459
|
0.00001
|
|
NM_004168.4(SDHA):c.313-5T>G
|
rs1060503705
|
0.00001
|
|
NM_004168.4(SDHA):c.313-8G>A
|
rs1060503710
|
0.00001
|
|
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)
|
rs758086385
|
0.00001
|
|
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)
|
rs786205209
|
0.00001
|
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
|
NM_004168.4(SDHA):c.360G>A (p.Arg120=)
|
rs1247649190
|
0.00001
|
|
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)
|
rs935241830
|
0.00001
|
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
|
NM_004168.4(SDHA):c.378C>T (p.Thr126=)
|
rs756039268
|
0.00001
|
|
NM_004168.4(SDHA):c.379G>A (p.Val127Met)
|
rs777600956
|
0.00001
|
|
NM_004168.4(SDHA):c.390C>T (p.Ser130=)
|
rs748976493
|
0.00001
|
|
NM_004168.4(SDHA):c.420C>G (p.His140Gln)
|
rs747232441
|
0.00001
|
|
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)
|
rs1377816261
|
0.00001
|
|
NM_004168.4(SDHA):c.423C>T (p.Tyr141=)
|
rs768897373
|
0.00001
|
|
NM_004168.4(SDHA):c.429G>A (p.Thr143=)
|
rs906281170
|
0.00001
|
|
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)
|
rs765784494
|
0.00001
|
|
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)
|
rs1734963793
|
0.00001
|
|
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)
|
rs143148642
|
0.00001
|
|
NM_004168.4(SDHA):c.456+10G>A
|
rs781436294
|
0.00001
|
|
NM_004168.4(SDHA):c.456+16C>T
|
rs748175384
|
0.00001
|
|
NM_004168.4(SDHA):c.456+18C>G
|
rs770457461
|
0.00001
|
|
NM_004168.4(SDHA):c.457-11A>G
|
rs748265289
|
0.00001
|
|
NM_004168.4(SDHA):c.457-16T>C
|
rs371775474
|
0.00001
|
|
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly)
|
rs777873911
|
0.00001
|
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
|
NM_004168.4(SDHA):c.471C>T (p.Gly157=)
|
rs1553997722
|
0.00001
|
|
NM_004168.4(SDHA):c.477G>A (p.Pro159=)
|
rs771741537
|
0.00001
|
|
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)
|
rs775074528
|
0.00001
|
|
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)
|
rs375067326
|
0.00001
|
|
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)
|
rs1734989215
|
0.00001
|
|
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
|
rs763578369
|
0.00001
|
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
|
NM_004168.4(SDHA):c.516A>G (p.Ala172=)
|
rs181278759
|
0.00001
|
|
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)
|
rs1553997783
|
0.00001
|
|
NM_004168.4(SDHA):c.534C>T (p.Leu178=)
|
rs749329370
|
0.00001
|
|
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)
|
rs1305547879
|
0.00001
|
|
NM_004168.4(SDHA):c.546G>A (p.Lys182=)
|
rs757707693
|
0.00001
|
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
|
NM_004168.4(SDHA):c.558C>T (p.Ala186=)
|
rs199618059
|
0.00001
|
|
NM_004168.4(SDHA):c.560A>G (p.His187Arg)
|
rs1236616384
|
0.00001
|
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
|
NM_004168.4(SDHA):c.564G>A (p.Arg188=)
|
rs1579385933
|
0.00001
|
|
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)
|
rs908267345
|
0.00001
|
|
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)
|
rs1393298155
|
0.00001
|
|
NM_004168.4(SDHA):c.57C>G (p.Ala19=)
|
rs749948037
|
0.00001
|
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
|
NM_004168.4(SDHA):c.585G>C (p.Arg195=)
|
rs766339992
|
0.00001
|
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
|
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)
|
rs878854633
|
0.00001
|
|
NM_004168.4(SDHA):c.621+10C>T
|
rs1458669735
|
0.00001
|
|
NM_004168.4(SDHA):c.621+19A>G
|
rs772849135
|
0.00001
|
|
NM_004168.4(SDHA):c.621+8C>T
|
rs201091275
|
0.00001
|
|
NM_004168.4(SDHA):c.621+9G>A
|
rs1060505005
|
0.00001
|
|
NM_004168.4(SDHA):c.627G>A (p.Leu209=)
|
rs149821224
|
0.00001
|
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
|
NM_004168.4(SDHA):c.63+16G>C
|
rs1252759825
|
0.00001
|
|
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
|
rs1235961098
|
0.00001
|
|
NM_004168.4(SDHA):c.633T>C (p.Tyr211=)
|
rs1307665893
|
0.00001
|
|
NM_004168.4(SDHA):c.64-12C>T
|
rs769476810
|
0.00001
|
|
NM_004168.4(SDHA):c.64-15C>T
|
rs1388748464
|
0.00001
|
|
NM_004168.4(SDHA):c.64-19G>A
|
rs1490248268
|
0.00001
|
|
NM_004168.4(SDHA):c.64-3C>T
|
rs772607568
|
0.00001
|
|
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)
|
rs752144637
|
0.00001
|
|
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)
|
rs778256616
|
0.00001
|
|
NM_004168.4(SDHA):c.687G>A (p.Gly229=)
|
rs775359678
|
0.00001
|
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
|
NM_004168.4(SDHA):c.6G>A (p.Ser2=)
|
rs751383247
|
0.00001
|
|
NM_004168.4(SDHA):c.702C>T (p.Val234=)
|
rs1205748459
|
0.00001
|
|
NM_004168.4(SDHA):c.707C>T (p.Ala236Val)
|
rs1060503703
|
0.00001
|
|
NM_004168.4(SDHA):c.708A>G (p.Ala236=)
|
rs774277601
|
0.00001
|
|
NM_004168.4(SDHA):c.709C>T (p.Leu237=)
|
rs1735173554
|
0.00001
|
|
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu)
|
rs760106352
|
0.00001
|
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
|
NM_004168.4(SDHA):c.729C>T (p.Ser243=)
|
rs778543446
|
0.00001
|
|
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
|
rs1162393515
|
0.00001
|
|
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)
|
rs1318566276
|
0.00001
|
|
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)
|
rs1126411
|
0.00001
|
|
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)
|
rs1409070000
|
0.00001
|
|
NM_004168.4(SDHA):c.770+7A>T
|
rs770997653
|
0.00001
|
|
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
|
rs1579397049
|
0.00001
|
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
|
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)
|
rs143484394
|
0.00001
|
|
NM_004168.4(SDHA):c.782G>A (p.Arg261His)
|
rs769228279
|
0.00001
|
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
|
NM_004168.4(SDHA):c.831G>A (p.Thr277=)
|
rs1470632146
|
0.00001
|
|
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)
|
rs1178613645
|
0.00001
|
|
NM_004168.4(SDHA):c.835A>G (p.Met279Val)
|
rs755913710
|
0.00001
|
|
NM_004168.4(SDHA):c.852C>A (p.Gly284=)
|
rs552108762
|
0.00001
|
|
NM_004168.4(SDHA):c.852C>G (p.Gly284=)
|
rs552108762
|
0.00001
|
|
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)
|
rs747045191
|
0.00001
|
|
NM_004168.4(SDHA):c.858T>A (p.Pro286=)
|
rs1553998661
|
0.00001
|
|
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
|
rs140797184
|
0.00001
|
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
|
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)
|
rs1436200566
|
0.00001
|
|
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)
|
rs1224049075
|
0.00001
|
|
NM_004168.4(SDHA):c.895+6G>A
|
rs765946047
|
0.00001
|
|
NM_004168.4(SDHA):c.895+8A>G
|
rs892273080
|
0.00001
|
|
NM_004168.4(SDHA):c.896-4G>A
|
rs555881974
|
0.00001
|
|
NM_004168.4(SDHA):c.901T>C (p.Tyr301His)
|
rs1060503713
|
0.00001
|
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
|
NM_004168.4(SDHA):c.954C>T (p.Leu318=)
|
rs1412623947
|
0.00001
|
|
NM_004168.4(SDHA):c.960C>T (p.Asn320=)
|
rs1289327970
|
0.00001
|
|
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile)
|
rs751896104
|
0.00001
|
|
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)
|
rs1735554095
|
0.00001
|
|
NM_004168.4(SDHA):c.975G>A (p.Arg325=)
|
rs1418778005
|
0.00001
|
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
|
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
|
rs138265892
|
0.00001
|
|
NM_004168.4(SDHA):c.990C>T (p.Tyr330=)
|
rs370547766
|
0.00001
|
|
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)
|
rs1062468
|
0.00001
|
|
NM_004168.4(SDHA):c.9G>T (p.Gly3=)
|
rs1252447154
|
0.00001
|
|
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)
|
rs754512910
|
0.00001
|
|
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)
|
rs864309584
|
0.00001
|
|
NM_004304.5(ALK):c.623T>C (p.Ile208Thr)
|
rs372226787
|
0.00001
|
|
NM_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
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_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
|
NM_017841.4(SDHAF2):c.260+3A>G
|
rs1445986287
|
0.00001
|
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
|
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)
|
rs747994812
|
0.00001
|
|
NM_017841.4(SDHAF2):c.37-1G>C
|
rs761956866
|
0.00001
|
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
|
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)
|
rs768048172
|
0.00001
|
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
0.00001
|
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
|
NM_022124.6(CDH23):c.1752+1G>A
|
rs1347367555
|
0.00001
|
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
|
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
|
rs1297047638
|
0.00001
|
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
0.00001
|
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
|
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
|
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter)
|
rs1306728898
|
0.00001
|
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
|
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His)
|
rs1270566026
|
0.00001
|
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
|
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter)
|
rs1375264465
|
0.00001
|
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
|
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
|
rs1190307769
|
0.00001
|
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
|
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)
|
rs372388344
|
0.00001
|
|
NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)
|
rs1558650888
|
0.00001
|
|
NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln)
|
rs1465002801
|
0.00001
|
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
|
NC_000001.10:g.(?_160786670)_(161332233_?)dup
|
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)del
|
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)dup
|
|
|
|
NC_000001.10:g.(?_161284186)_(161332233_?)dup
|
|
|
|
NC_000001.10:g.(?_161284190)_(161332229_?)dup
|
|
|
|
NC_000001.10:g.(?_161293394)_(161293470_?)del
|
|
|
|
NC_000001.10:g.(?_161293394)_(161332233_?)dup
|
|
|
|
NC_000001.10:g.(?_161293398)_(161332229_?)dup
|
|
|
|
NC_000001.10:g.(?_161298176)_(161298297_?)del
|
|
|
|
NC_000001.10:g.(?_161298176)_(161332308_?)dup
|
|
|
|
NC_000001.10:g.(?_161310374)_(161310455_?)del
|
|
|
|
NC_000001.10:g.(?_161310374)_(161332233_?)dup
|
|
|
|
NC_000001.10:g.(?_161310374)_(161332308_?)del
|
|
|
|
NC_000001.10:g.(?_161310378)_(161332229_?)dup
|
|
|
|
NC_000001.10:g.(?_161310384)_(161310445_?)dup
|
|
|
|
NC_000001.10:g.(?_161326457)_(161326640_?)dup
|
|
|
|
NC_000001.10:g.(?_161326457)_(161332308_?)del
|
|
|
|
NC_000001.10:g.(?_161326461)_(161332229_?)dup
|
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)del
|
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)dup
|
|
|
|
NC_000001.10:g.(?_17345217)_(17380665_?)dup
|
|
|
|
NC_000001.10:g.(?_17345366)_(17380524_?)dup
|
|
|
|
NC_000001.10:g.(?_17345370)_(17355237_?)dup
|
|
|
|
NC_000001.10:g.(?_17345376)_(17345463_?)del
|
|
|
|
NC_000001.10:g.(?_17345376)_(17355241_?)dup
|
|
|
|
NC_000001.10:g.(?_17345376)_(17359650_?)del
|
|
|
|
NC_000001.10:g.(?_17345376)_(17371393_?)dup
|
|
|
|
NC_000001.10:g.(?_17345376)_(17371403_?)del
|
|
|
|
NC_000001.10:g.(?_17349093)_(17350579_?)del
|
|
|
|
NC_000001.10:g.(?_17349093)_(17380514_?)del
|
|
|
|
NC_000001.10:g.(?_17349097)_(17359646_?)dup
|
|
|
|
NC_000001.10:g.(?_17354234)_(17354370_?)del
|
|
|
|
NC_000001.10:g.(?_17354234)_(17359650_?)dup
|
|
|
|
NC_000001.10:g.(?_17359545)_(17359650_?)dup
|
|
|
|
NC_000001.10:g.(?_17359545)_(17380514_?)del
|
|
|
|
NC_000001.10:g.(?_17359545)_(17380524_?)dup
|
|
|
|
NC_000001.10:g.(?_17371246)_(17380514_?)del
|
|
|
|
NC_000001.10:g.(?_17371246)_(17380524_?)dup
|
|
|
|
NC_000001.10:g.(?_17371256)_(17371383_?)dup
|
|
|
|
NC_000001.10:g.(?_17380437)_(17380520_?)del
|
|
|
|
NC_000001.10:g.17375249_17390927del15679
|
|
|
|
NC_000001.10:g.17376556_17396932del20377
|
|
|
|
NC_000001.11:g.(?_160816880)_(161362518_?)dup
|
|
|
|
NC_000001.11:g.(?_161314368)_(161328507_?)dup
|
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)del
|
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)dup
|
|
|
|
NC_000001.11:g.(?_161314396)_(161340665_?)dup
|
|
|
|
NC_000001.11:g.(?_161314400)_(161362439_?)del
|
|
|
|
NC_000001.11:g.(?_161323604)_(161328507_?)del
|
|
|
|
NC_000001.11:g.(?_161323604)_(161362518_?)dup
|
|
|
|
NC_000001.11:g.(?_161323614)_(161323670_?)del
|
|
|
|
NC_000001.11:g.(?_161340584)_(161340665_?)dup
|
|
|
|
NC_000001.11:g.(?_161340584)_(161356850_?)del
|
|
|
|
NC_000001.11:g.(?_161340584)_(161362518_?)dup
|
|
|
|
NC_000001.11:g.(?_161356667)_(161356850_?)del
|
|
|
|
NC_000001.11:g.(?_161356667)_(161362443_?)del
|
|
|
|
NC_000001.11:g.(?_161356667)_(161362518_?)dup
|
|
|
|
NC_000001.11:g.(?_161356677)_(161356840_?)del
|
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
|
NC_000001.11:g.(?_17018871)_(17018968_?)del
|
|
|
|
NC_000001.11:g.(?_17018871)_(17033155_?)del
|
|
|
|
NC_000001.11:g.(?_17018871)_(17044898_?)del
|
|
|
|
NC_000001.11:g.(?_17018871)_(17054029_?)del
|
|
|
|
NC_000001.11:g.(?_17018875)_(17033151_?)del
|
|
|
|
NC_000001.11:g.(?_17018875)_(17044894_?)del
|
|
|
|
NC_000001.11:g.(?_17018881)_(17018968_?)dup
|
|
|
|
NC_000001.11:g.(?_17018881)_(17044898_?)del
|
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)del
|
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)dup
|
|
|
|
NC_000001.11:g.(?_17018881)_(17071491_?)del
|
|
|
|
NC_000001.11:g.(?_17033050)_(17033155_?)del
|
|
|
|
NC_000001.11:g.(?_17033054)_(17033151_?)del
|
|
|
|
NC_000001.11:g.(?_17044751)_(17044898_?)del
|
|
|
|
NC_000001.11:g.(?_17044761)_(17044888_?)del
|
|
|
|
NC_000001.11:g.(?_17053938)_(17054029_?)del
|
|
|
|
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.(?_104352329)_(104352491_?)del
|
|
|
|
NC_000010.10:g.(?_104352329)_(104353832_?)del
|
|
|
|
NC_000010.10:g.(?_104352329)_(104377195_?)dup
|
|
|
|
NC_000010.10:g.(?_104375015)_(104389912_?)del
|
|
|
|
NC_000010.10:g.(?_104386922)_(104392580_?)del
|
|
|
|
NC_000010.11:(102444036_?)_(?_104726221)del
|
|
|
|
NC_000010.11:g.(?_102504143)_(102550116_?)del
|
|
|
|
NC_000010.11:g.(?_102549960)_(102550116_?)del
|
|
|
|
NC_000010.11:g.(?_102593630)_(102597299_?)del
|
|
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
|
NC_000011.10:g.(?_112086898)_(112094980_?)del
|
|
|
|
NC_000011.10:g.(?_112086902)_(112094975_?)del
|
|
|
|
NC_000011.10:g.(?_112087802)_(112094970_?)dup
|
|
|
|
NC_000011.10:g.(?_112088857)_(112094980_?)del
|
|
|
|
NC_000011.10:g.(?_112094795)_(112094970_?)del
|
|
|
|
NC_000011.10:g.(?_112094795)_(112094980_?)del
|
|
|
|
NC_000011.10:g.(?_112094799)_(112094976_?)del
|
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)del
|
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)dup
|
|
|
|
NC_000011.9:g.(?_111957547)_(111958707_?)del
|
|
|
|
NC_000011.9:g.(?_111957571)_(111966518_?)del
|
|
|
|
NC_000011.9:g.(?_111957622)_(111965704_?)dup
|
|
|
|
NC_000017.10:g.(?_38785027)_(38804103_?)dup
|
|
|
|
NC_000017.10:g.(?_38785037)_(38804103_?)del
|
|
|
|
NC_000017.10:g.(?_38798697)_(38804103_?)dup
|
|
|
|
NC_000017.11:g.(?_40628785)_(40647851_?)dup
|
|
|
|
NC_000019.10:g.(?_10984121)_(11062282_?)del
|
|
|
|
NC_000019.10:g.(?_10984142)_(11061826_?)dup
|
|
|
|
NC_000019.10:g.(?_10986179)_(11061826_?)dup
|
|
|
|
NC_000019.10:g.(?_11007892)_(11061826_?)dup
|
|
|
|
NC_000019.10:g.(?_11018947)_(11030903_?)del
|
|
|
|
NC_000019.10:g.(?_11018951)_(11030899_?)del
|
|
|
|
NC_000019.10:g.(?_11039458)_(11039553_?)del
|
|
|
|
NC_000019.10:g.(?_11041297)_(11061826_?)del
|
|
|
|
NC_000019.9:g.(?_11094818)_(11107066_?)dup
|
|
|
|
NC_000019.9:g.(?_11094822)_(11172498_?)del
|
|
|
|
NC_000019.9:g.(?_11094828)_(11100129_?)dup
|
|
|
|
NC_000019.9:g.(?_11094828)_(11114083_?)del
|
|
|
|
NC_000019.9:g.(?_11094828)_(11129709_?)del
|
|
|
|
NC_000019.9:g.(?_11094828)_(11135124_?)dup
|
|
|
|
NC_000019.9:g.(?_11094828)_(11137032_?)dup
|
|
|
|
NC_000019.9:g.(?_11094828)_(11152246_?)del
|
|
|
|
NC_000019.9:g.(?_11094828)_(11152246_?)dup
|
|
|
|
NC_000019.9:g.(?_11094828)_(11172492_?)del
|
|
|
|
NC_000019.9:g.(?_11098332)_(11105687_?)del
|
|
|
|
NC_000019.9:g.(?_11099983)_(11102009_?)del
|
|
|
|
NC_000019.9:g.(?_11101816)_(11152246_?)del
|
|
|
|
NC_000019.9:g.(?_11105494)_(11172492_?)dup
|
|
|
|
NC_000019.9:g.(?_11106879)_(11107230_?)del
|
|
|
|
NC_000019.9:g.(?_11106879)_(11172492_?)dup
|
|
|
|
NC_000019.9:g.(?_11106879)_(11172502_?)dup
|
|
|
|
NC_000019.9:g.(?_11113695)_(11172492_?)dup
|
|
|
|
NC_000019.9:g.(?_11118568)_(11118709_?)del
|
|
|
|
NC_000019.9:g.(?_11118568)_(11172492_?)dup
|
|
|
|
NC_000019.9:g.(?_11121047)_(11136194_?)del
|
|
|
|
NC_000019.9:g.(?_11121047)_(11172492_?)dup
|
|
|
|
NC_000019.9:g.(?_11129613)_(11172492_?)dup
|
|
|
|
NC_000019.9:g.(?_11134174)_(11144896_?)dup
|
|
|
|
NC_000019.9:g.(?_11136088)_(11172492_?)dup
|
|
|
|
NC_000019.9:g.(?_11168921)_(11169575_?)dup
|
|
|
|
NC_000019.9:g.(?_11168921)_(11172492_?)del
|
|
|
|
NC_000019.9:g.(?_11168925)_(11172498_?)dup
|
|
|
|
NC_000019.9:g.(?_11172454)_(11172498_?)dup
|
|
|
|
NG_012337.3(SDHD):g.11847_14024del
|
|
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
|
NM_000051.4(ATM):c.611G>T (p.Gly204Val)
|
rs1555066451
|
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
|
NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer)
|
rs1566260060
|
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
|
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.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.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
|
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.2150del (p.Cys717fs)
|
rs397507618
|
|
|
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.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
|
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.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.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
|
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.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
|
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.4914dup (p.Val1639fs)
|
rs786203494
|
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
|
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.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
|
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)
|
rs80358785
|
|
|
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.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
|
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.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
|
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.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.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
|
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=)
|
rs786204282
|
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
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.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
|
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.8332-1G>A
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
|
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.8904del (p.Val2969fs)
|
rs80359730
|
|
|
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.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
|
NM_000135.4(FANCA):c.1081A>G (p.Arg361Gly)
|
|
|
|
NM_000135.4(FANCA):c.3659C>T (p.Pro1220Leu)
|
|
|
|
NM_000179.3(MSH6):c.2722G>T (p.Glu908Ter)
|
rs886056144
|
|
|
NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)
|
rs1558518449
|
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
|
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter)
|
rs2118338419
|
|
|
NM_000264.5(PTCH1):c.2244del (p.Ala749fs)
|
rs1564032829
|
|
|
NM_000268.4(NF2):c.1000A>G (p.Met334Val)
|
rs1556000094
|
|
|
NM_000268.4(NF2):c.114+4A>G
|
rs1207246677
|
|
|
NM_000268.4(NF2):c.1142C>T (p.Ala381Val)
|
|
|
|
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
|
rs766974263
|
|
|
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
|
rs776970251
|
|
|
NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)
|
|
|
|
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
|
|
|
|
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln)
|
rs1569309694
|
|
|
NM_000268.4(NF2):c.1575-24T>A
|
|
|
|
NM_000268.4(NF2):c.1593G>C (p.Lys531Asn)
|
|
|
|
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
|
|
|
|
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
|
|
|
|
NM_000268.4(NF2):c.169C>T (p.Arg57Ter)
|
rs121434259
|
|
|
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
|
|
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
|
|
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
|
rs547255779
|
|
|
NM_000268.4(NF2):c.345A>T (p.Gln115His)
|
rs746369012
|
|
|
NM_000268.4(NF2):c.35G>C (p.Ser12Thr)
|
|
|
|
NM_000268.4(NF2):c.391A>C (p.Ile131Leu)
|
rs878853927
|
|
|
NM_000268.4(NF2):c.447+166T>G
|
|
|
|
NM_000268.4(NF2):c.463C>G (p.Pro155Ala)
|
rs2066246942
|
|
|
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
|
|
|
|
NM_000268.4(NF2):c.4G>T (p.Ala2Ser)
|
rs1601515682
|
|
|
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
|
rs1325902176
|
|
|
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys)
|
rs1555993319
|
|
|
NM_000268.4(NF2):c.593G>A (p.Arg198Gln)
|
rs2146973900
|
|
|
NM_000268.4(NF2):c.599+1G>C
|
|
|
|
NM_000268.4(NF2):c.670A>G (p.Ile224Val)
|
rs1555994825
|
|
|
NM_000268.4(NF2):c.675+172G>T
|
|
|
|
NM_000268.4(NF2):c.675+182A>G
|
|
|
|
NM_000268.4(NF2):c.74G>A (p.Arg25Lys)
|
rs1569259813
|
|
|
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
|
|
|
|
NM_000268.4(NF2):c.885+1G>A
|
rs2066581489
|
|
|
NM_000268.4(NF2):c.995del (p.Lys332fs)
|
rs587776563
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
|
NM_000314.8(PTEN):c.-752GGC[4]
|
rs933847861
|
|
|
NM_000314.8(PTEN):c.-822G>T
|
rs587779993
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
|
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
|
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile)
|
rs1589640376
|
|
|
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)
|
rs1589596143
|
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
|
NM_000314.8(PTEN):c.253+2T>A
|
rs1224040268
|
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
|
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)
|
rs786202753
|
|
|
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)
|
rs587782187
|
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
|
NM_000314.8(PTEN):c.593T>C (p.Met198Thr)
|
rs1554900635
|
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
|
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
|
rs770025422
|
|
|
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)
|
rs121909235
|
|
|
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro)
|
rs1057518538
|
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
|
NM_000420.3(KEL):c.604G>A (p.Gly202Ser)
|
rs2116680039
|
|
|
NM_000420.3(KEL):c.961C>T (p.Gln321Ter)
|
rs980885552
|
|
|
NM_000455.5(STK11):c.1284G>C (p.Ser428=)
|
rs369097329
|
|
|
NM_000489.6(ATRX):c.4213A>G (p.Arg1405Gly)
|
rs1569535987
|
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
|
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)
|
rs121913494
|
|
|
NM_000516.7(GNAS):c.681G>C (p.Gln227His)
|
rs137854533
|
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
|
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)
|
rs1057519997
|
|
|
NM_000546.6(TP53):c.332T>C (p.Leu111Pro)
|
rs1057519997
|
|
|
NM_000546.6(TP53):c.332T>G (p.Leu111Arg)
|
rs1057519997
|
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
|
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)
|
rs1057519978
|
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
|
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)
|
rs1057519978
|
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
|
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)
|
rs786203436
|
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
|
NM_000546.6(TP53):c.536A>C (p.His179Pro)
|
rs1057519991
|
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
|
NM_000546.6(TP53):c.577C>A (p.His193Asn)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
|
rs587780071
|
|
|
NM_000546.6(TP53):c.581T>A (p.Leu194His)
|
rs1057519998
|
|
|
NM_000546.6(TP53):c.581T>C (p.Leu194Pro)
|
rs1057519998
|
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
|
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)
|
rs760043106
|
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
|
NM_000546.6(TP53):c.585C>G (p.Ile195Met)
|
rs1057519994
|
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)
|
rs1057520007
|
|
|
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)
|
rs1057520007
|
|
|
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)
|
rs1057520007
|
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
|
NM_000546.6(TP53):c.641A>T (p.His214Leu)
|
rs1057519992
|
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.647T>A (p.Val216Glu)
|
rs1057520004
|
|
|
NM_000546.6(TP53):c.647T>G (p.Val216Gly)
|
rs1057520004
|
|
|
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
|
rs121912666
|
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
|
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
rs1057519981
|
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
|
NM_000546.6(TP53):c.721T>C (p.Ser241Pro)
|
rs1057520002
|
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
|
NM_000546.6(TP53):c.724T>G (p.Cys242Gly)
|
rs1057519982
|
|
|
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)
|
rs121912655
|
|
|
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)
|
rs375874539
|
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
|
NM_000546.6(TP53):c.730G>C (p.Gly244Arg)
|
rs1057519989
|
|
|
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
|
rs1057519989
|
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.731G>T (p.Gly244Val)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
|
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
|
rs28934575
|
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.746G>T (p.Arg249Met)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
|
NM_000546.6(TP53):c.764T>C (p.Ile255Thr)
|
rs876659675
|
|
|
NM_000546.6(TP53):c.764T>G (p.Ile255Ser)
|
rs876659675
|
|
|
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)
|
rs1057519990
|
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
|
NM_000546.6(TP53):c.797G>T (p.Gly266Val)
|
rs193920774
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.808T>A (p.Phe270Ile)
|
rs1057519988
|
|
|
NM_000546.6(TP53):c.808T>G (p.Phe270Val)
|
rs1057519988
|
|
|
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
|
rs1057519986
|
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
|
NM_000546.6(TP53):c.810T>G (p.Phe270Leu)
|
rs1057519987
|
|
|
NM_000546.6(TP53):c.811G>A (p.Glu271Lys)
|
rs1060501191
|
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
|
NM_000546.6(TP53):c.815T>A (p.Val272Glu)
|
rs876660333
|
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.820G>C (p.Val274Leu)
|
rs1057520005
|
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
|
NM_000546.6(TP53):c.821T>A (p.Val274Asp)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.821T>C (p.Val274Ala)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
|
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)
|
rs876659802
|
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
|
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
|
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)
|
rs587781525
|
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
|
NM_000546.6(TP53):c.843C>G (p.Asp281Glu)
|
rs1057519984
|
|
|
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)
|
rs28934574
|
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
|
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)
|
rs786201059
|
|
|
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)
|
rs1057519985
|
|
|
NM_000546.6(TP53):c.857A>G (p.Glu286Gly)
|
rs1057519985
|
|
|
NM_000546.6(TP53):c.857A>T (p.Glu286Val)
|
rs1057519985
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
|
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
|
|
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
|
NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs)
|
rs1567848147
|
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
|
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)
|
rs863224846
|
|
|
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met)
|
rs1057519875
|
|
|
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)
|
rs387906589
|
|
|
NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val)
|
rs387906589
|
|
|
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs)
|
rs886042842
|
|
|
NM_001126049.2(KLLN):c.-736G>C
|
rs1554889801
|
|
|
NM_001126049.2(KLLN):c.-828C>T
|
rs786203674
|
|
|
NM_001128849.1(SMARCA4):c.1524_1525inv (p.Ala509Thr)
|
|
|
|
NM_001128849.1(SMARCA4):c.2010_2012delGGA
|
rs759896283
|
|
|
NM_001128849.1(SMARCA4):c.3874delG
|
|
|
|
NM_001130823.3(DNMT1):c.1645-1G>T
|
rs1568234664
|
|
|
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
|
|
|
|
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro)
|
rs138631461
|
|
|
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)
|
rs2150159210
|
|
|
NM_001321818.2(RAD51B):c.1037-71695GT[3]
|
rs1410470158
|
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
|
NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly)
|
rs747241612
|
|
|
NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln)
|
rs866987936
|
|
|
NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro)
|
rs866987936
|
|
|
NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu)
|
rs866987936
|
|
|
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_001370100.5(ZMYND11):c.117-4238T>A
|
rs1057517548
|
|
|
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)
|
rs577268289
|
|
|
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)
|
rs1565635212
|
|
|
NM_001370259.2(MEN1):c.913-79T>A
|
|
|
|
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
|
rs794727100
|
|
|
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.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_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
|
NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs)
|
rs1568503055
|
|
|
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp)
|
rs1568504941
|
|
|
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.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.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.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.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_001429.4(EP300):c.4195G>A (p.Asp1399Asn)
|
rs1057519889
|
|
|
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr)
|
rs1057519889
|
|
|
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter)
|
rs1554209779
|
|
|
NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter)
|
rs1554218944
|
|
|
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)
|
rs121913399
|
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)
|
rs121913228
|
|
|
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)
|
rs121913228
|
|
|
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)
|
rs121913403
|
|
|
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)
|
rs121913403
|
|
|
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)
|
rs121913403
|
|
|
NM_001904.4(CTNNB1):c.133T>G (p.Ser45Ala)
|
rs121913407
|
|
|
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.94G>A (p.Asp32Asn)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)
|
rs121913396
|
|
|
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)
|
rs121913396
|
|
|
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)
|
rs121913396
|
|
|
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)
|
rs1057519886
|
|
|
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)
|
rs1057519886
|
|
|
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)
|
rs1057519886
|
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
|
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)
|
rs121913400
|
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
|
NM_001933.5(DLST):c.911A>G (p.Asp304Gly)
|
|
|
|
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)
|
rs137853226
|
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
|
NM_002107.7(H3-3A):c.103G>A (p.Gly35Arg)
|
rs1553260624
|
|
|
NM_002107.7(H3-3A):c.83A>T (p.Lys28Met)
|
rs1057519903
|
|
|
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)
|
rs1057519906
|
|
|
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp)
|
rs1057519906
|
|
|
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys)
|
rs121913503
|
|
|
NM_002168.4(IDH2):c.515G>T (p.Arg172Met)
|
rs121913503
|
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
|
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)
|
rs121434596
|
|
|
NM_002608.4(PDGFB):c.602-1396_602-1262del
|
|
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)
|
rs121918454
|
|
|
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)
|
rs121918454
|
|
|
NM_003000.2(SDHB):c.-151_*159del
|
|
|
|
NM_003000.2(SDHB):c.201-?_765+?dup
|
|
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
|
NM_003000.2(SDHB):c.73-?_*159+?dup
|
|
|
|
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
|
|
|
|
NM_003000.3(SDHB):c.101C>A (p.Ala34Asp)
|
rs867908217
|
|
|
NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)
|
rs867908217
|
|
|
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)
|
rs1204932232
|
|
|
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)
|
rs2078100640
|
|
|
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)
|
rs2101541552
|
|
|
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)
|
rs761180960
|
|
|
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)
|
rs761180960
|
|
|
NM_003000.3(SDHB):c.10G>A (p.Val4Met)
|
rs2101551949
|
|
|
NM_003000.3(SDHB):c.111C>G (p.Pro37=)
|
|
|
|
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)
|
rs398123690
|
|
|
NM_003000.3(SDHB):c.112del (p.Arg38fs)
|
rs398123690
|
|
|
NM_003000.3(SDHB):c.113G>C (p.Arg38Pro)
|
rs143058777
|
|
|
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)
|
|
|
|
NM_003000.3(SDHB):c.120G>A (p.Lys40=)
|
rs1570958090
|
|
|
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn)
|
rs1570958090
|
|
|
NM_003000.3(SDHB):c.120_122del (p.Lys41del)
|
|
|
|
NM_003000.3(SDHB):c.124T>C (p.Phe42Leu)
|
|
|
|
NM_003000.3(SDHB):c.125T>C (p.Phe42Ser)
|
|
|
|
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)
|
rs2101541516
|
|
|
NM_003000.3(SDHB):c.126del (p.Phe42fs)
|
rs878854572
|
|
|
NM_003000.3(SDHB):c.127G>A (p.Ala43Thr)
|
|
|
|
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
|
|
|
|
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)
|
rs2078100395
|
|
|
NM_003000.3(SDHB):c.128C>T (p.Ala43Val)
|
|
|
|
NM_003000.3(SDHB):c.12G>A (p.Val4=)
|
rs768683606
|
|
|
NM_003000.3(SDHB):c.12G>C (p.Val4=)
|
rs768683606
|
|
|
NM_003000.3(SDHB):c.134A>G (p.Tyr45Cys)
|
|
|
|
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)
|
|
|
|
NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter)
|
rs1351034939
|
|
|
NM_003000.3(SDHB):c.136C>A (p.Arg46=)
|
rs74315370
|
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
|
NM_003000.3(SDHB):c.138A>G (p.Arg46=)
|
rs1392672185
|
|
|
NM_003000.3(SDHB):c.138A>T (p.Arg46=)
|
rs1392672185
|
|
|
NM_003000.3(SDHB):c.13G>C (p.Val5Leu)
|
rs962717797
|
|
|
NM_003000.3(SDHB):c.13G>T (p.Val5Phe)
|
rs962717797
|
|
|
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)
|
rs1060503762
|
|
|
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)
|
rs2078100198
|
|
|
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)
|
rs1570958038
|
|
|
NM_003000.3(SDHB):c.145C>T (p.Pro49Ser)
|
|
|
|
NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)
|
|
|
|
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)
|
rs2078100131
|
|
|
NM_003000.3(SDHB):c.146del (p.Pro49fs)
|
|
|
|
NM_003000.3(SDHB):c.147A>G (p.Pro49=)
|
rs2101541448
|
|
|
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)
|
rs1060503765
|
|
|
NM_003000.3(SDHB):c.148G>C (p.Asp50His)
|
rs1060503765
|
|
|
NM_003000.3(SDHB):c.148G>T (p.Asp50Tyr)
|
|
|
|
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)
|
rs1570958022
|
|
|
NM_003000.3(SDHB):c.14T>C (p.Val5Ala)
|
rs760565241
|
|
|
NM_003000.3(SDHB):c.150C>A (p.Asp50Glu)
|
rs1570958024
|
|
|
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)
|
rs1570958024
|
|
|
NM_003000.3(SDHB):c.152A>C (p.Lys51Thr)
|
rs2101541430
|
|
|
NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)
|
|
|
|
NM_003000.3(SDHB):c.155C>A (p.Ala52Asp)
|
rs878854573
|
|
|
NM_003000.3(SDHB):c.15C>A (p.Val5=)
|
rs1182998682
|
|
|
NM_003000.3(SDHB):c.15C>G (p.Val5=)
|
rs1182998682
|
|
|
NM_003000.3(SDHB):c.15C>T (p.Val5=)
|
rs1182998682
|
|
|
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)
|
rs1570957997
|
|
|
NM_003000.3(SDHB):c.161A>T (p.Asp54Val)
|
rs1553178735
|
|
|
NM_003000.3(SDHB):c.162C>T (p.Asp54=)
|
rs2101541392
|
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
|
NM_003000.3(SDHB):c.16G>C (p.Ala6Pro)
|
|
|
|
NM_003000.3(SDHB):c.16G>T (p.Ala6Ser)
|
rs1472284221
|
|
|
NM_003000.3(SDHB):c.174G>A (p.Met58Ile)
|
|
|
|
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)
|
rs2101541371
|
|
|
NM_003000.3(SDHB):c.177G>C (p.Gln59His)
|
rs1277374324
|
|
|
NM_003000.3(SDHB):c.177G>T (p.Gln59His)
|
|
|
|
NM_003000.3(SDHB):c.179C>T (p.Thr60Ile)
|
rs1210793630
|
|
|
NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val)
|
|
|
|
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)
|
rs2101551903
|
|
|
NM_003000.3(SDHB):c.180T>A (p.Thr60=)
|
rs2101541350
|
|
|
NM_003000.3(SDHB):c.182A>C (p.Tyr61Ser)
|
|
|
|
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)
|
rs768171765
|
|
|
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)
|
rs760169139
|
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
|
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)
|
rs1231783823
|
|
|
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)
|
|
|
|
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)
|
rs2078099260
|
|
|
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)
|
|
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
|
NM_003000.3(SDHB):c.189T>C (p.Val63=)
|
rs2101541333
|
|
|
NM_003000.3(SDHB):c.18C>G (p.Ala6=)
|
rs2746462
|
|
|
NM_003000.3(SDHB):c.18C>T (p.Ala6=)
|
rs2746462
|
|
|
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)
|
rs2078164049
|
|
|
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)
|
rs2078164049
|
|
|
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)
|
|
|
|
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)
|
|
|
|
NM_003000.3(SDHB):c.190del (p.Asp64fs)
|
rs1553178729
|
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
|
NM_003000.3(SDHB):c.192C>A (p.Asp64Glu)
|
rs1570957920
|
|
|
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)
|
rs786202185
|
|
|
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)
|
rs786202185
|
|
|
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)
|
rs876659329
|
|
|
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)
|
rs1553179340
|
|
|
NM_003000.3(SDHB):c.1A>G (p.Met1Val)
|
|
|
|
NM_003000.3(SDHB):c.1A>T (p.Met1Leu)
|
rs1131691049
|
|
|
NM_003000.3(SDHB):c.200+11C>T
|
|
|
|
NM_003000.3(SDHB):c.200+18A>T
|
|
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
|
NM_003000.3(SDHB):c.200+1G>C
|
rs2101541309
|
|
|
NM_003000.3(SDHB):c.200+3_200+6del
|
rs2101541290
|
|
|
NM_003000.3(SDHB):c.200+4A>G
|
rs774908929
|
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
|
NM_003000.3(SDHB):c.200+5G>T
|
rs1553178726
|
|
|
NM_003000.3(SDHB):c.200+9C>A
|
rs2101541285
|
|
|
NM_003000.3(SDHB):c.201-10T>A
|
rs761461907
|
|
|
NM_003000.3(SDHB):c.201-17A>G
|
rs2101529168
|
|
|
NM_003000.3(SDHB):c.201-18G>A
|
rs765108144
|
|
|
NM_003000.3(SDHB):c.201-18G>T
|
rs765108144
|
|
|
NM_003000.3(SDHB):c.201-1G>C
|
|
|
|
NM_003000.3(SDHB):c.201-20T>C
|
|
|
|
NM_003000.3(SDHB):c.201-2A>C
|
rs878854574
|
|
|
NM_003000.3(SDHB):c.201-4429_287-934del
|
|
|
|
NM_003000.3(SDHB):c.201-4T>A
|
|
|
|
NM_003000.3(SDHB):c.201-6T>C
|
rs2101529151
|
|
|
NM_003000.3(SDHB):c.201-7T>G
|
rs2078032733
|
|
|
NM_003000.3(SDHB):c.201-9C>T
|
rs201108188
|
|
|
NM_003000.3(SDHB):c.201A>G (p.Lys67=)
|
rs1436421650
|
|
|
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)
|
rs2101529119
|
|
|
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)
|
rs587782904
|
|
|
NM_003000.3(SDHB):c.206G>T (p.Gly69Val)
|
rs2101529108
|
|
|
NM_003000.3(SDHB):c.207C>T (p.Gly69=)
|
rs2101529103
|
|
|
NM_003000.3(SDHB):c.208C>G (p.Pro70Ala)
|
rs200890320
|
|
|
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)
|
rs200890320
|
|
|
NM_003000.3(SDHB):c.20T>A (p.Leu7His)
|
rs778776844
|
|
|
NM_003000.3(SDHB):c.20T>C (p.Leu7Pro)
|
|
|
|
NM_003000.3(SDHB):c.210dup (p.Met71fs)
|
rs794728947
|
|
|
NM_003000.3(SDHB):c.211A>G (p.Met71Val)
|
rs1557742895
|
|
|
NM_003000.3(SDHB):c.212T>C (p.Met71Thr)
|
|
|
|
NM_003000.3(SDHB):c.213G>A (p.Met71Ile)
|
|
|
|
NM_003000.3(SDHB):c.216A>G (p.Val72=)
|
rs1570951479
|
|
|
NM_003000.3(SDHB):c.219G>C (p.Leu73Phe)
|
|
|
|
NM_003000.3(SDHB):c.21C>A (p.Leu7=)
|
rs147815442
|
|
|
NM_003000.3(SDHB):c.21C>G (p.Leu7=)
|
rs147815442
|
|
|
NM_003000.3(SDHB):c.220G>A (p.Asp74Asn)
|
rs1570951468
|
|
|
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
|
|
|
|
NM_003000.3(SDHB):c.223G>T (p.Ala75Ser)
|
rs2101529057
|
|
|
NM_003000.3(SDHB):c.229A>G (p.Ile77Val)
|
rs1553178046
|
|
|
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)
|
rs1060503767
|
|
|
NM_003000.3(SDHB):c.22dup (p.Ser8fs)
|
rs2101551846
|
|
|
NM_003000.3(SDHB):c.231C>G (p.Ile77Met)
|
rs1570951427
|
|
|
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)
|
rs2101529019
|
|
|
NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)
|
rs774960237
|
|
|
NM_003000.3(SDHB):c.233A>T (p.Lys78Met)
|
|
|
|
NM_003000.3(SDHB):c.234G>A (p.Lys78=)
|
rs776971836
|
|
|
NM_003000.3(SDHB):c.234G>C (p.Lys78Asn)
|
|
|
|
NM_003000.3(SDHB):c.234G>T (p.Lys78Asn)
|
rs776971836
|
|
|
NM_003000.3(SDHB):c.235A>T (p.Ile79Phe)
|
rs771524558
|
|
|
NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)
|
|
|
|
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)
|
rs2078032308
|
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
|
NM_003000.3(SDHB):c.239A>G (p.Lys80Arg)
|
|
|
|
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)
|
rs199848267
|
|
|
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)
|
rs199848267
|
|
|
NM_003000.3(SDHB):c.240G>C (p.Lys80Asn)
|
rs2101528987
|
|
|
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)
|
rs1315623287
|
|
|
NM_003000.3(SDHB):c.243T>C (p.Asn81=)
|
rs2101528976
|
|
|
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)
|
rs2101528972
|
|
|
NM_003000.3(SDHB):c.244G>A (p.Glu82Lys)
|
|
|
|
NM_003000.3(SDHB):c.245A>C (p.Glu82Ala)
|
|
|
|
NM_003000.3(SDHB):c.248T>C (p.Val83Ala)
|
rs763547482
|
|
|
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)
|
rs763547482
|
|
|
NM_003000.3(SDHB):c.249T>C (p.Val83=)
|
rs1570951394
|
|
|
NM_003000.3(SDHB):c.249del (p.Asp84fs)
|
rs2101528951
|
|
|
NM_003000.3(SDHB):c.24C>G (p.Ser8=)
|
|
|
|
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)
|
rs2078032193
|
|
|
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)
|
rs1427902008
|
|
|
NM_003000.3(SDHB):c.252C>T (p.Asp84=)
|
rs1427902008
|
|
|
NM_003000.3(SDHB):c.256A>G (p.Thr86Ala)
|
rs1570951385
|
|
|
NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)
|
rs1570951385
|
|
|
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe)
|
rs2101528919
|
|
|
NM_003000.3(SDHB):c.259T>G (p.Leu87Val)
|
|
|
|
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)
|
|
|
|
NM_003000.3(SDHB):c.25T>C (p.Leu9=)
|
rs1060503768
|
|
|
NM_003000.3(SDHB):c.25T>G (p.Leu9Val)
|
rs1060503768
|
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
|
NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)
|
rs915794675
|
|
|
NM_003000.3(SDHB):c.263C>T (p.Thr88Ile)
|
rs915794675
|
|
|
NM_003000.3(SDHB):c.264C>G (p.Thr88=)
|
rs41310416
|
|
|
NM_003000.3(SDHB):c.264C>T (p.Thr88=)
|
rs41310416
|
|
|
NM_003000.3(SDHB):c.267C>G (p.Phe89Leu)
|
rs1553178042
|
|
|
NM_003000.3(SDHB):c.267C>T (p.Phe89=)
|
rs1553178042
|
|
|
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)
|
rs74315366
|
|
|
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)
|
rs570278423
|
|
|
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)
|
rs786203800
|
|
|
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)
|
rs878854575
|
|
|
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)
|
rs2078031940
|
|
|
NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)
|
|
|
|
NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)
|
|
|
|
NM_003000.3(SDHB):c.274T>A (p.Ser92Thr)
|
|
|
|
NM_003000.3(SDHB):c.276A>C (p.Ser92=)
|
|
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
|
NM_003000.3(SDHB):c.279C>T (p.Cys93=)
|
rs2101528858
|
|
|
NM_003000.3(SDHB):c.27G>A (p.Leu9=)
|
rs2101551820
|
|
|
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)
|
rs2101551820
|
|
|
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)
|
rs2078031878
|
|
|
NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)
|
|
|
|
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)
|
rs2101528849
|
|
|
NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)
|
|
|
|
NM_003000.3(SDHB):c.286+15C>T
|
rs2078031756
|
|
|
NM_003000.3(SDHB):c.286+17T>C
|
|
|
|
NM_003000.3(SDHB):c.286+18G>C
|
rs1352485549
|
|
|
NM_003000.3(SDHB):c.286+18G>T
|
rs1352485549
|
|
|
NM_003000.3(SDHB):c.286+1G>A
|
rs786201063
|
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
|
NM_003000.3(SDHB):c.286+3G>A
|
rs2078031816
|
|
|
NM_003000.3(SDHB):c.286+5G>A
|
rs768966871
|
|
|
NM_003000.3(SDHB):c.286+5G>C
|
rs768966871
|
|
|
NM_003000.3(SDHB):c.286+7A>G
|
rs747131231
|
|
|
NM_003000.3(SDHB):c.286+8T>C
|
rs2101528825
|
|
|
NM_003000.3(SDHB):c.286+9T>G
|
|
|
|
NM_003000.3(SDHB):c.286G>C (p.Gly96Arg)
|
|
|
|
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)
|
rs587782243
|
|
|
NM_003000.3(SDHB):c.287-10_295del
|
|
|
|
NM_003000.3(SDHB):c.287-11G>A
|
rs2101523489
|
|
|
NM_003000.3(SDHB):c.287-13G>A
|
|
|
|
NM_003000.3(SDHB):c.287-16T>C
|
rs2078005658
|
|
|
NM_003000.3(SDHB):c.287-18A>G
|
|
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
|
NM_003000.3(SDHB):c.287-20T>A
|
|
|
|
NM_003000.3(SDHB):c.287-20_287-18del
|
|
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
|
NM_003000.3(SDHB):c.287-4del
|
rs2101523473
|
|
|
NM_003000.3(SDHB):c.287-8T>C
|
rs2101523482
|
|
|
NM_003000.3(SDHB):c.287-9C>A
|
|
|
|
NM_003000.3(SDHB):c.287-9C>G
|
rs775784091
|
|
|
NM_003000.3(SDHB):c.287-9C>T
|
|
|
|
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)
|
rs778952116
|
|
|
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)
|
rs1553177769
|
|
|
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)
|
|
|
|
NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)
|
|
|
|
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr)
|
rs1553177768
|
|
|
NM_003000.3(SDHB):c.295G>A (p.Gly99Ser)
|
|
|
|
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)
|
rs878854576
|
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
|
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)
|
rs1570963545
|
|
|
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr)
|
rs74315371
|
|
|
NM_003000.3(SDHB):c.302G>C (p.Cys101Ser)
|
rs74315371
|
|
|
NM_003000.3(SDHB):c.303T>C (p.Cys101=)
|
rs2101523383
|
|
|
NM_003000.3(SDHB):c.306A>G (p.Ala102=)
|
rs1553177766
|
|
|
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)
|
rs1553177765
|
|
|
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)
|
rs1570948679
|
|
|
NM_003000.3(SDHB):c.30G>A (p.Arg10=)
|
|
|
|
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)
|
rs1024111417
|
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
|
NM_003000.3(SDHB):c.313A>G (p.Ile105Val)
|
rs1356656612
|
|
|
NM_003000.3(SDHB):c.313A>T (p.Ile105Phe)
|
|
|
|
NM_003000.3(SDHB):c.315C>G (p.Ile105Met)
|
|
|
|
NM_003000.3(SDHB):c.315C>T (p.Ile105=)
|
|
|
|
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)
|
rs1557741510
|
|
|
NM_003000.3(SDHB):c.318T>C (p.Asn106=)
|
rs2101523320
|
|
|
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)
|
|
|
|
NM_003000.3(SDHB):c.325_335del (p.Asn109fs)
|
rs2101523248
|
|
|
NM_003000.3(SDHB):c.326A>G (p.Asn109Ser)
|
rs1570948643
|
|
|
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)
|
rs1407350591
|
|
|
NM_003000.3(SDHB):c.32G>C (p.Arg11Pro)
|
|
|
|
NM_003000.3(SDHB):c.330T>C (p.Thr110=)
|
rs2101523275
|
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
|
NM_003000.3(SDHB):c.331C>T (p.Leu111=)
|
|
|
|
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)
|
rs1060503751
|
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
|
NM_003000.3(SDHB):c.333A>G (p.Leu111=)
|
rs2101523252
|
|
|
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)
|
rs1553177762
|
|
|
NM_003000.3(SDHB):c.335C>T (p.Ala112Val)
|
|
|
|
NM_003000.3(SDHB):c.336T>C (p.Ala112=)
|
rs2101523242
|
|
|
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)
|
rs2078005043
|
|
|
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)
|
rs864321636
|
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
|
NM_003000.3(SDHB):c.339C>T (p.Cys113=)
|
rs754582722
|
|
|
NM_003000.3(SDHB):c.33C>G (p.Arg11=)
|
rs146399542
|
|
|
NM_003000.3(SDHB):c.340A>G (p.Thr114Ala)
|
rs2078005007
|
|
|
NM_003000.3(SDHB):c.340A>T (p.Thr114Ser)
|
rs2078005007
|
|
|
NM_003000.3(SDHB):c.341C>T (p.Thr114Ile)
|
|
|
|
NM_003000.3(SDHB):c.342C>A (p.Thr114=)
|
|
|
|
NM_003000.3(SDHB):c.342C>T (p.Thr114=)
|
rs528599830
|
|
|
NM_003000.3(SDHB):c.344G>T (p.Arg115Leu)
|
|
|
|
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)
|
|
|
|
NM_003000.3(SDHB):c.347G>C (p.Arg116Thr)
|
|
|
|
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)
|
rs777234785
|
|
|
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)
|
|
|
|
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)
|
rs761996626
|
|
|
NM_003000.3(SDHB):c.351T>A (p.Ile117=)
|
rs2101523192
|
|
|
NM_003000.3(SDHB):c.357C>T (p.Thr119=)
|
rs1553177749
|
|
|
NM_003000.3(SDHB):c.359A>C (p.Asn120Thr)
|
|
|
|
NM_003000.3(SDHB):c.359A>G (p.Asn120Ser)
|
rs1553177746
|
|
|
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)
|
rs1293365726
|
|
|
NM_003000.3(SDHB):c.35G>C (p.Arg12Pro)
|
rs1293365726
|
|
|
NM_003000.3(SDHB):c.35G>T (p.Arg12Leu)
|
rs1293365726
|
|
|
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)
|
rs1194401420
|
|
|
NM_003000.3(SDHB):c.363C>T (p.Leu121=)
|
|
|
|
NM_003000.3(SDHB):c.367A>G (p.Lys123Glu)
|
rs1570948588
|
|
|
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)
|
rs1557741464
|
|
|
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)
|
rs1557741464
|
|
|
NM_003000.3(SDHB):c.369G>A (p.Lys123=)
|
|
|
|
NM_003000.3(SDHB):c.36G>A (p.Arg12=)
|
rs754024341
|
|
|
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)
|
rs978525560
|
|
|
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)
|
rs1557741456
|
|
|
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)
|
rs786203506
|
|
|
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)
|
rs786203506
|
|
|
NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)
|
rs786203506
|
|
|
NM_003000.3(SDHB):c.375A>G (p.Ser125=)
|
rs2101523080
|
|
|
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)
|
rs201372280
|
|
|
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)
|
rs201372280
|
|
|
NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser)
|
|
|
|
NM_003000.3(SDHB):c.383A>T (p.Tyr128Phe)
|
|
|
|
NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)
|
|
|
|
NM_003000.3(SDHB):c.385C>G (p.Pro129Ala)
|
rs1553177740
|
|
|
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)
|
rs1553177740
|
|
|
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)
|
rs2101523045
|
|
|
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)
|
rs2101523036
|
|
|
NM_003000.3(SDHB):c.392del (p.Pro131fs)
|
rs1553177739
|
|
|
NM_003000.3(SDHB):c.393A>G (p.Pro131=)
|
|
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
|
NM_003000.3(SDHB):c.396C>T (p.His132=)
|
|
|
|
NM_003000.3(SDHB):c.397A>G (p.Met133Val)
|
rs1392546433
|
|
|
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)
|
rs553392349
|
|
|
NM_003000.3(SDHB):c.399G>A (p.Met133Ile)
|
|
|
|
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)
|
rs1557741425
|
|
|
NM_003000.3(SDHB):c.39G>A (p.Leu13=)
|
rs201745731
|
|
|
NM_003000.3(SDHB):c.39G>C (p.Leu13Phe)
|
rs201745731
|
|
|
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)
|
rs201745731
|
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
|
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)
|
rs200893429
|
|
|
NM_003000.3(SDHB):c.402T>C (p.Tyr134=)
|
rs2101522991
|
|
|
NM_003000.3(SDHB):c.405G>A (p.Val135=)
|
rs2101522982
|
|
|
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)
|
rs2078004347
|
|
|
NM_003000.3(SDHB):c.406A>T (p.Ile136Leu)
|
|
|
|
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)
|
rs2078004335
|
|
|
NM_003000.3(SDHB):c.408A>C (p.Ile136=)
|
|
|
|
NM_003000.3(SDHB):c.409A>G (p.Lys137Glu)
|
rs2078004315
|
|
|
NM_003000.3(SDHB):c.40C>T (p.Pro14Ser)
|
|
|
|
NM_003000.3(SDHB):c.411G>A (p.Lys137=)
|
rs2078004300
|
|
|
NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)
|
|
|
|
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)
|
rs786203529
|
|
|
NM_003000.3(SDHB):c.412del (p.Asp138fs)
|
rs2101522958
|
|
|
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly)
|
rs1570948527
|
|
|
NM_003000.3(SDHB):c.417T>C (p.Leu139=)
|
rs1570948513
|
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
|
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)
|
rs1553177734
|
|
|
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)
|
rs1553177734
|
|
|
NM_003000.3(SDHB):c.423+10T>G
|
rs201600439
|
|
|
NM_003000.3(SDHB):c.423+11G>A
|
|
|
|
NM_003000.3(SDHB):c.423+11G>T
|
rs2101522890
|
|
|
NM_003000.3(SDHB):c.423+12C>T
|
rs2078004107
|
|
|
NM_003000.3(SDHB):c.423+13A>G
|
|
|
|
NM_003000.3(SDHB):c.423+15CT[2]
|
rs778120334
|
|
|
NM_003000.3(SDHB):c.423+17C>T
|
rs2101522881
|
|
|
NM_003000.3(SDHB):c.423+18T>G
|
rs2101522874
|
|
|
NM_003000.3(SDHB):c.423+19C>G
|
|
|
|
NM_003000.3(SDHB):c.423+19C>T
|
|
|
|
NM_003000.3(SDHB):c.423+20T>C
|
rs190139590
|
|
|
NM_003000.3(SDHB):c.423+7T>A
|
|
|
|
NM_003000.3(SDHB):c.423+7T>C
|
rs2101522903
|
|
|
NM_003000.3(SDHB):c.423+8T>C
|
rs2101522899
|
|
|
NM_003000.3(SDHB):c.423+8T>G
|
rs2101522899
|
|
|
NM_003000.3(SDHB):c.423+9C>G
|
rs1570948499
|
|
|
NM_003000.3(SDHB):c.423+9C>T
|
rs1570948499
|
|
|
NM_003000.3(SDHB):c.423C>A (p.Pro141=)
|
|
|
|
NM_003000.3(SDHB):c.424-10T>G
|
|
|
|
NM_003000.3(SDHB):c.424-12T>C
|
|
|
|
NM_003000.3(SDHB):c.424-13C>G
|
|
|
|
NM_003000.3(SDHB):c.424-13C>T
|
|
|
|
NM_003000.3(SDHB):c.424-13_424-11dup
|
rs1365741915
|
|
|
NM_003000.3(SDHB):c.424-13del
|
|
|
|
NM_003000.3(SDHB):c.424-14_424-13insCTC
|
|
|
|
NM_003000.3(SDHB):c.424-14_424-9del
|
|
|
|
NM_003000.3(SDHB):c.424-14_424-9dup
|
rs1064794554
|
|
|
NM_003000.3(SDHB):c.424-16T>C
|
|
|
|
NM_003000.3(SDHB):c.424-17_424-9del
|
rs2101521957
|
|
|
NM_003000.3(SDHB):c.424-19T>C
|
rs201836574
|
|
|
NM_003000.3(SDHB):c.424-1G>A
|
rs1131691060
|
|
|
NM_003000.3(SDHB):c.424-2A>G
|
rs2101521922
|
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
|
NM_003000.3(SDHB):c.424-37TTC[11]
|
rs34261028
|
|
|
NM_003000.3(SDHB):c.424-37TTC[5]
|
rs34261028
|
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
|
NM_003000.3(SDHB):c.424-37TTC[7]
|
rs34261028
|
|
|
NM_003000.3(SDHB):c.424-3C>G
|
rs1557741166
|
|
|
NM_003000.3(SDHB):c.424-5C>G
|
rs1553177690
|
|
|
NM_003000.3(SDHB):c.424-5C>T
|
|
|
|
NM_003000.3(SDHB):c.424-6dup
|
rs2101521941
|
|
|
NM_003000.3(SDHB):c.424-79_424-2del
|
|
|
|
NM_003000.3(SDHB):c.424-7A>C
|
rs1570948064
|
|
|
NM_003000.3(SDHB):c.424-7A>T
|
rs1570948064
|
|
|
NM_003000.3(SDHB):c.424-9T>G
|
|
|
|
NM_003000.3(SDHB):c.424G>A (p.Asp142Asn)
|
|
|
|
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)
|
rs759709073
|
|
|
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)
|
rs759709073
|
|
|
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)
|
rs1570948034
|
|
|
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)
|
rs2101551748
|
|
|
NM_003000.3(SDHB):c.434A>G (p.Asn145Ser)
|
|
|
|
NM_003000.3(SDHB):c.435C>T (p.Asn145=)
|
rs2101521900
|
|
|
NM_003000.3(SDHB):c.436T>G (p.Phe146Val)
|
rs1553177689
|
|
|
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)
|
rs2101521886
|
|
|
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)
|
rs1570948017
|
|
|
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)
|
rs1570948017
|
|
|
NM_003000.3(SDHB):c.439T>C (p.Tyr147His)
|
|
|
|
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)
|
rs774568101
|
|
|
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)
|
rs1060503763
|
|
|
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)
|
rs2078000133
|
|
|
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)
|
|
|
|
NM_003000.3(SDHB):c.444A>T (p.Ala148=)
|
|
|
|
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)
|
rs876658451
|
|
|
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)
|
rs2101521836
|
|
|
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)
|
rs1553177688
|
|
|
NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)
|
rs1570947984
|
|
|
NM_003000.3(SDHB):c.447G>A (p.Gln149=)
|
rs200353146
|
|
|
NM_003000.3(SDHB):c.447G>T (p.Gln149His)
|
rs200353146
|
|
|
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)
|
rs2101521819
|
|
|
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)
|
rs2101521812
|
|
|
NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)
|
|
|
|
NM_003000.3(SDHB):c.453A>G (p.Lys151=)
|
rs1570947967
|
|
|
NM_003000.3(SDHB):c.455C>A (p.Ser152Tyr)
|
rs200414835
|
|
|
NM_003000.3(SDHB):c.456C>A (p.Ser152=)
|
|
|
|
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)
|
rs1450956956
|
|
|
NM_003000.3(SDHB):c.459T>C (p.Ile153=)
|
|
|
|
NM_003000.3(SDHB):c.45C>T (p.Ala15=)
|
rs764875162
|
|
|
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)
|
rs763008243
|
|
|
NM_003000.3(SDHB):c.465T>C (p.Pro155=)
|
rs1553177685
|
|
|
NM_003000.3(SDHB):c.466del (p.Tyr156fs)
|
rs2101521760
|
|
|
NM_003000.3(SDHB):c.468T>C (p.Tyr156=)
|
rs199718947
|
|
|
NM_003000.3(SDHB):c.469T>C (p.Leu157=)
|
|
|
|
NM_003000.3(SDHB):c.46A>C (p.Thr16Pro)
|
rs1433760506
|
|
|
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala)
|
rs1433760506
|
|
|
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)
|
rs2077999812
|
|
|
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)
|
rs2077999823
|
|
|
NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)
|
rs1173714647
|
|
|
NM_003000.3(SDHB):c.473del (p.Lys158fs)
|
|
|
|
NM_003000.3(SDHB):c.477G>A (p.Lys159=)
|
rs2101521741
|
|
|
NM_003000.3(SDHB):c.477G>C (p.Lys159Asn)
|
|
|
|
NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)
|
|
|
|
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)
|
rs2077999799
|
|
|
NM_003000.3(SDHB):c.47C>T (p.Thr16Ile)
|
rs775350144
|
|
|
NM_003000.3(SDHB):c.480G>A (p.Lys160=)
|
rs1553177683
|
|
|
NM_003000.3(SDHB):c.481G>A (p.Asp161Asn)
|
rs1553177682
|
|
|
NM_003000.3(SDHB):c.481del (p.Asp161fs)
|
rs794728949
|
|
|
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)
|
rs1049317868
|
|
|
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)
|
rs2101521715
|
|
|
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)
|
|
|
|
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
|
rs769687734
|
|
|
NM_003000.3(SDHB):c.48A>C (p.Thr16=)
|
rs1570963474
|
|
|
NM_003000.3(SDHB):c.491del (p.Gln164fs)
|
rs1553177678
|
|
|
NM_003000.3(SDHB):c.492G>A (p.Gln164=)
|
rs2101521670
|
|
|
NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)
|
|
|
|
NM_003000.3(SDHB):c.497G>A (p.Gly166Asp)
|
rs1060503760
|
|
|
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)
|
rs1060503753
|
|
|
NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)
|
|
|
|
NM_003000.3(SDHB):c.500_501inv (p.Lys167Thr)
|
|
|
|
NM_003000.3(SDHB):c.501G>A (p.Lys167=)
|
rs1570947881
|
|
|
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)
|
rs1570947881
|
|
|
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)
|
rs1553177677
|
|
|
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)
|
|
|
|
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)
|
rs1553177676
|
|
|
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)
|
rs1553177676
|
|
|
NM_003000.3(SDHB):c.507G>A (p.Gln169=)
|
rs2101521627
|
|
|
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)
|
|
|
|
NM_003000.3(SDHB):c.508dup (p.Tyr170fs)
|
|
|
|
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)
|
rs138979875
|
|
|
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)
|
|
|
|
NM_003000.3(SDHB):c.511C>T (p.Leu171=)
|
rs780870337
|
|
|
NM_003000.3(SDHB):c.513G>A (p.Leu171=)
|
rs2101521615
|
|
|
NM_003000.3(SDHB):c.516G>A (p.Gln172=)
|
rs138937650
|
|
|
NM_003000.3(SDHB):c.517T>C (p.Ser173Pro)
|
rs2077999499
|
|
|
NM_003000.3(SDHB):c.518C>T (p.Ser173Phe)
|
rs895331139
|
|
|
NM_003000.3(SDHB):c.51C>G (p.Thr17=)
|
|
|
|
NM_003000.3(SDHB):c.51C>T (p.Thr17=)
|
rs550555402
|
|
|
NM_003000.3(SDHB):c.520A>G (p.Ile174Val)
|
rs969943651
|
|
|
NM_003000.3(SDHB):c.521T>C (p.Ile174Thr)
|
rs200301019
|
|
|
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)
|
rs2101521589
|
|
|
NM_003000.3(SDHB):c.523G>A (p.Glu175Lys)
|
rs202203339
|
|
|
NM_003000.3(SDHB):c.523dup (p.Glu175fs)
|
rs2077999421
|
|
|
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)
|
rs746643960
|
|
|
NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)
|
|
|
|
NM_003000.3(SDHB):c.528G>A (p.Glu176=)
|
|
|
|
NM_003000.3(SDHB):c.529C>A (p.Arg177Ser)
|
rs149091125
|
|
|
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)
|
rs2101551686
|
|
|
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)
|
rs2077999285
|
|
|
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)
|
rs2101521549
|
|
|
NM_003000.3(SDHB):c.534G>A (p.Glu178=)
|
rs2077999274
|
|
|
NM_003000.3(SDHB):c.534G>T (p.Glu178Asp)
|
rs2077999274
|
|
|
NM_003000.3(SDHB):c.537A>G (p.Lys179=)
|
|
|
|
NM_003000.3(SDHB):c.537dup (p.Leu180fs)
|
rs1553177669
|
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
|
NM_003000.3(SDHB):c.540+11C>G
|
|
|
|
NM_003000.3(SDHB):c.540+12C>G
|
rs2077999115
|
|
|
NM_003000.3(SDHB):c.540+12C>T
|
rs2077999115
|
|
|
NM_003000.3(SDHB):c.540+13T>C
|
rs2101521499
|
|
|
NM_003000.3(SDHB):c.540+16T>C
|
|
|
|
NM_003000.3(SDHB):c.540+1G>A
|
rs1553177667
|
|
|
NM_003000.3(SDHB):c.540+3C>T
|
|
|
|
NM_003000.3(SDHB):c.540+4A>G
|
rs1557741074
|
|
|
NM_003000.3(SDHB):c.540+5T>C
|
rs1557741072
|
|
|
NM_003000.3(SDHB):c.540+5T>G
|
|
|
|
NM_003000.3(SDHB):c.540+8G>A
|
rs2077999169
|
|
|
NM_003000.3(SDHB):c.540_540+13del
|
rs1553177666
|
|
|
NM_003000.3(SDHB):c.541-10C>T
|
rs200004039
|
|
|
NM_003000.3(SDHB):c.541-11T>C
|
rs1014439132
|
|
|
NM_003000.3(SDHB):c.541-12C>T
|
|
|
|
NM_003000.3(SDHB):c.541-13_541-12insGCTCCTGCCTCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGCGC
|
|
|
|
NM_003000.3(SDHB):c.541-14T>C
|
|
|
|
NM_003000.3(SDHB):c.541-14_541-13del
|
rs2101516735
|
|
|
NM_003000.3(SDHB):c.541-16T>G
|
|
|
|
NM_003000.3(SDHB):c.541-17C>G
|
|
|
|
NM_003000.3(SDHB):c.541-18_541-8dup
|
rs1553177448
|
|
|
NM_003000.3(SDHB):c.541-21CT[2]
|
|
|
|
NM_003000.3(SDHB):c.541-2A>G
|
rs786201161
|
|
|
NM_003000.3(SDHB):c.541-30_541-2dup
|
rs751159957
|
|
|
NM_003000.3(SDHB):c.541-3C>A
|
rs751920183
|
|
|
NM_003000.3(SDHB):c.541-3C>G
|
|
|
|
NM_003000.3(SDHB):c.541-4A>T
|
rs2077978890
|
|
|
NM_003000.3(SDHB):c.541-5T>C
|
rs2101516704
|
|
|
NM_003000.3(SDHB):c.541-6A>G
|
rs1195530396
|
|
|
NM_003000.3(SDHB):c.541-6A>T
|
rs1195530396
|
|
|
NM_003000.3(SDHB):c.541-7C>G
|
rs201558574
|
|
|
NM_003000.3(SDHB):c.541-8C>G
|
rs1570946001
|
|
|
NM_003000.3(SDHB):c.541-8C>T
|
|
|
|
NM_003000.3(SDHB):c.543C>A (p.Asp181Glu)
|
|
|
|
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)
|
rs1570945931
|
|
|
NM_003000.3(SDHB):c.546G>A (p.Gly182=)
|
|
|
|
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)
|
rs1557740003
|
|
|
NM_003000.3(SDHB):c.549C>T (p.Leu183=)
|
rs1411654404
|
|
|
NM_003000.3(SDHB):c.54T>C (p.Leu18=)
|
rs759446168
|
|
|
NM_003000.3(SDHB):c.54T>G (p.Leu18=)
|
rs759446168
|
|
|
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)
|
rs1553177442
|
|
|
NM_003000.3(SDHB):c.551A>G (p.Tyr184Cys)
|
rs2101516629
|
|
|
NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)
|
rs1045881797
|
|
|
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)
|
rs1045881797
|
|
|
NM_003000.3(SDHB):c.555G>A (p.Glu185=)
|
|
|
|
NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)
|
|
|
|
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr)
|
rs1553177440
|
|
|
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)
|
rs1553177440
|
|
|
NM_003000.3(SDHB):c.558C>T (p.Cys186=)
|
rs1570945906
|
|
|
NM_003000.3(SDHB):c.559A>C (p.Ile187Leu)
|
|
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
|
NM_003000.3(SDHB):c.560T>A (p.Ile187Asn)
|
|
|
|
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)
|
rs1392463987
|
|
|
NM_003000.3(SDHB):c.562C>G (p.Leu188Val)
|
rs1392463987
|
|
|
NM_003000.3(SDHB):c.564C>T (p.Leu188=)
|
rs776487215
|
|
|
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
|
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
|
|
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
|
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)
|
rs2101516550
|
|
|
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)
|
|
|
|
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)
|
rs201900648
|
|
|
NM_003000.3(SDHB):c.570C>G (p.Ala190=)
|
rs2101516535
|
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
|
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)
|
rs397516835
|
|
|
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser)
|
rs397516835
|
|
|
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)
|
rs2077978395
|
|
|
NM_003000.3(SDHB):c.57C>T (p.Gly19=)
|
rs1326601709
|
|
|
NM_003000.3(SDHB):c.582C>G (p.Thr194=)
|
rs775450654
|
|
|
NM_003000.3(SDHB):c.582C>T (p.Thr194=)
|
rs775450654
|
|
|
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg)
|
rs2101516484
|
|
|
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
|
NM_003000.3(SDHB):c.588C>T (p.Cys196=)
|
rs1060505015
|
|
|
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)
|
rs2077978300
|
|
|
NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)
|
|
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
|
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)
|
|
|
|
NM_003000.3(SDHB):c.591C>T (p.Pro197=)
|
|
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
|
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)
|
rs2077978250
|
|
|
NM_003000.3(SDHB):c.593G>C (p.Ser198Thr)
|
rs1570945857
|
|
|
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)
|
rs1570945857
|
|
|
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys)
|
rs2077978220
|
|
|
NM_003000.3(SDHB):c.597C>T (p.Tyr199=)
|
rs1570945852
|
|
|
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)
|
rs1557739966
|
|
|
NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)
|
|
|
|
NM_003000.3(SDHB):c.598del (p.Trp200fs)
|
rs2101516424
|
|
|
NM_003000.3(SDHB):c.598dup (p.Trp200fs)
|
rs2101516417
|
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
|
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)
|
rs2101516405
|
|
|
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter)
|
rs1060503759
|
|
|
NM_003000.3(SDHB):c.603G>A (p.Trp201Ter)
|
|
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
|
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)
|
rs1131691050
|
|
|
NM_003000.3(SDHB):c.605dup (p.Asn202fs)
|
rs1131691053
|
|
|
NM_003000.3(SDHB):c.606C>G (p.Asn202Lys)
|
rs199653121
|
|
|
NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)
|
|
|
|
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)
|
rs587782617
|
|
|
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)
|
rs1553177435
|
|
|
NM_003000.3(SDHB):c.608del (p.Gly203fs)
|
rs1553177436
|
|
|
NM_003000.3(SDHB):c.609A>C (p.Gly203=)
|
rs1570945818
|
|
|
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)
|
rs1570945796
|
|
|
NM_003000.3(SDHB):c.60A>C (p.Gly20=)
|
|
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
|
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)
|
rs774090318
|
|
|
NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)
|
rs774090318
|
|
|
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)
|
|
|
|
NM_003000.3(SDHB):c.619C>G (p.Leu207Val)
|
|
|
|
NM_003000.3(SDHB):c.619C>T (p.Leu207=)
|
rs1570945806
|
|
|
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)
|
|
|
|
NM_003000.3(SDHB):c.620_621del (p.Leu207fs)
|
rs1060503752
|
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
|
NM_003000.3(SDHB):c.625C>T (p.Pro209Ser)
|
rs2101516279
|
|
|
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)
|
rs2077977622
|
|
|
NM_003000.3(SDHB):c.627T>C (p.Pro209=)
|
rs1060505016
|
|
|
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)
|
rs2078163173
|
|
|
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)
|
rs2078163173
|
|
|
NM_003000.3(SDHB):c.630A>C (p.Ala210=)
|
|
|
|
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)
|
rs2077977582
|
|
|
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)
|
rs2077977582
|
|
|
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)
|
rs2101516246
|
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
|
NM_003000.3(SDHB):c.636T>C (p.Leu212=)
|
rs778439194
|
|
|
NM_003000.3(SDHB):c.637A>G (p.Met213Val)
|
rs770622939
|
|
|
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)
|
rs770622939
|
|
|
NM_003000.3(SDHB):c.637dup (p.Met213fs)
|
|
|
|
NM_003000.3(SDHB):c.638T>G (p.Met213Arg)
|
|
|
|
NM_003000.3(SDHB):c.63C>G (p.Ala21=)
|
rs1557749647
|
|
|
NM_003000.3(SDHB):c.63dup (p.Cys22fs)
|
rs1570963451
|
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
|
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)
|
rs781590955
|
|
|
NM_003000.3(SDHB):c.642+10T>A
|
rs780427803
|
|
|
NM_003000.3(SDHB):c.642+10T>C
|
rs780427803
|
|
|
NM_003000.3(SDHB):c.642+10T>G
|
|
|
|
NM_003000.3(SDHB):c.642+14_642+25del
|
rs763857045
|
|
|
NM_003000.3(SDHB):c.642+1G>A
|
rs1131691052
|
|
|
NM_003000.3(SDHB):c.642+20C>G
|
|
|
|
NM_003000.3(SDHB):c.642+2T>G
|
rs1553177424
|
|
|
NM_003000.3(SDHB):c.642+3G>A
|
rs878854577
|
|
|
NM_003000.3(SDHB):c.642+4A>G
|
rs1225871505
|
|
|
NM_003000.3(SDHB):c.642+5G>A
|
rs755486893
|
|
|
NM_003000.3(SDHB):c.642+8G>A
|
|
|
|
NM_003000.3(SDHB):c.642+9C>G
|
rs2077977174
|
|
|
NM_003000.3(SDHB):c.642+9C>T
|
|
|
|
NM_003000.3(SDHB):c.642G>C (p.Gln214His)
|
rs1278834014
|
|
|
NM_003000.3(SDHB):c.642_642+6del
|
rs876660368
|
|
|
NM_003000.3(SDHB):c.643-10G>A
|
rs1553177293
|
|
|
NM_003000.3(SDHB):c.643-11T>C
|
|
|
|
NM_003000.3(SDHB):c.643-11T>G
|
|
|
|
NM_003000.3(SDHB):c.643-12C>G
|
rs2101514078
|
|
|
NM_003000.3(SDHB):c.643-14C>A
|
|
|
|
NM_003000.3(SDHB):c.643-15T>C
|
|
|
|
NM_003000.3(SDHB):c.643-15del
|
|
|
|
NM_003000.3(SDHB):c.643-16A>G
|
|
|
|
NM_003000.3(SDHB):c.643-17C>T
|
rs2101514084
|
|
|
NM_003000.3(SDHB):c.643-20_643-18dup
|
|
|
|
NM_003000.3(SDHB):c.643-4dup
|
rs1570944969
|
|
|
NM_003000.3(SDHB):c.643-8T>C
|
rs2101514064
|
|
|
NM_003000.3(SDHB):c.643-8_643-3del
|
rs2077969156
|
|
|
NM_003000.3(SDHB):c.643-9G>A
|
|
|
|
NM_003000.3(SDHB):c.644C>A (p.Ala215Asp)
|
rs1060503761
|
|
|
NM_003000.3(SDHB):c.646T>C (p.Tyr216His)
|
|
|
|
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)
|
rs1553177291
|
|
|
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
|
|
|
|
NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)
|
rs200245469
|
|
|
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu)
|
rs747518441
|
|
|
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)
|
rs1553177290
|
|
|
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)
|
rs916516745
|
|
|
NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)
|
|
|
|
NM_003000.3(SDHB):c.655A>G (p.Met219Val)
|
rs2077968991
|
|
|
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)
|
rs1570944850
|
|
|
NM_003000.3(SDHB):c.657G>T (p.Met219Ile)
|
|
|
|
NM_003000.3(SDHB):c.658A>G (p.Ile220Val)
|
rs1188548211
|
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
|
NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)
|
rs141230910
|
|
|
NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)
|
rs141230910
|
|
|
NM_003000.3(SDHB):c.661G>A (p.Asp221Asn)
|
rs1553177288
|
|
|
NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)
|
|
|
|
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)
|
rs2101513953
|
|
|
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)
|
|
|
|
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)
|
rs2101513917
|
|
|
NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)
|
|
|
|
NM_003000.3(SDHB):c.670G>C (p.Asp224His)
|
|
|
|
NM_003000.3(SDHB):c.672T>C (p.Asp224=)
|
|
|
|
NM_003000.3(SDHB):c.673G>A (p.Asp225Asn)
|
rs1570944919
|
|
|
NM_003000.3(SDHB):c.675C>T (p.Asp225=)
|
|
|
|
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)
|
rs1570944911
|
|
|
NM_003000.3(SDHB):c.677del (p.Phe226fs)
|
rs2077968833
|
|
|
NM_003000.3(SDHB):c.678C>T (p.Phe226=)
|
rs1570944907
|
|
|
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)
|
rs1553179319
|
|
|
NM_003000.3(SDHB):c.67C>T (p.Leu23=)
|
|
|
|
NM_003000.3(SDHB):c.680C>A (p.Thr227Lys)
|
rs1486615365
|
|
|
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)
|
rs1486615365
|
|
|
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
|
|
|
|
NM_003000.3(SDHB):c.682G>C (p.Glu228Gln)
|
rs2077968778
|
|
|
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)
|
|
|
|
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)
|
rs762812025
|
|
|
NM_003000.3(SDHB):c.684G>A (p.Glu228=)
|
rs2101513893
|
|
|
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)
|
rs1209914140
|
|
|
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
|
|
|
|
NM_003000.3(SDHB):c.687G>C (p.Glu229Asp)
|
rs1060503754
|
|
|
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)
|
rs587782604
|
|
|
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)
|
|
|
|
NM_003000.3(SDHB):c.690C>A (p.Arg230=)
|
|
|
|
NM_003000.3(SDHB):c.693G>A (p.Leu231=)
|
rs2101513857
|
|
|
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)
|
rs1553177285
|
|
|
NM_003000.3(SDHB):c.699G>A (p.Lys233=)
|
|
|
|
NM_003000.3(SDHB):c.69G>C (p.Leu23=)
|
|
|
|
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)
|
|
|
|
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)
|
rs786202913
|
|
|
NM_003000.3(SDHB):c.702G>A (p.Leu234=)
|
|
|
|
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
|
|
|
|
NM_003000.3(SDHB):c.704A>G (p.Gln235Arg)
|
rs1570944853
|
|
|
NM_003000.3(SDHB):c.705G>C (p.Gln235His)
|
rs1570944851
|
|
|
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)
|
rs2077968555
|
|
|
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)
|
rs1570963430
|
|
|
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)
|
rs878854579
|
|
|
NM_003000.3(SDHB):c.711A>C (p.Pro237=)
|
rs1570944839
|
|
|
NM_003000.3(SDHB):c.711A>G (p.Pro237=)
|
rs1570944839
|
|
|
NM_003000.3(SDHB):c.712T>G (p.Phe238Val)
|
|
|
|
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)
|
rs1553177279
|
|
|
NM_003000.3(SDHB):c.713del (p.Phe238fs)
|
rs876660642
|
|
|
NM_003000.3(SDHB):c.714C>A (p.Phe238Leu)
|
rs1553177278
|
|
|
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)
|
rs2101513765
|
|
|
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)
|
rs201098090
|
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
|
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)
|
rs201098090
|
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
|
NM_003000.3(SDHB):c.717T>A (p.Ser239=)
|
rs2101513742
|
|
|
NM_003000.3(SDHB):c.717T>C (p.Ser239=)
|
rs2101513742
|
|
|
NM_003000.3(SDHB):c.717dup (p.Leu240fs)
|
rs1060503764
|
|
|
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)
|
rs794728950
|
|
|
NM_003000.3(SDHB):c.71A>C (p.Gln24Pro)
|
rs878854580
|
|
|
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)
|
rs878854580
|
|
|
NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)
|
|
|
|
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)
|
rs2078163018
|
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
|
NM_003000.3(SDHB):c.72+10G>A
|
rs2101551608
|
|
|
NM_003000.3(SDHB):c.72+10G>C
|
rs2101551608
|
|
|
NM_003000.3(SDHB):c.72+13G>T
|
|
|
|
NM_003000.3(SDHB):c.72+14C>T
|
rs1321607765
|
|
|
NM_003000.3(SDHB):c.72+15C>T
|
|
|
|
NM_003000.3(SDHB):c.72+17C>G
|
rs1031878905
|
|
|
NM_003000.3(SDHB):c.72+18A>C
|
|
|
|
NM_003000.3(SDHB):c.72+19G>C
|
rs1466555262
|
|
|
NM_003000.3(SDHB):c.72+1G>A
|
rs587782703
|
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
|
NM_003000.3(SDHB):c.72+2T>G
|
|
|
|
NM_003000.3(SDHB):c.72+3G>A
|
rs569245129
|
|
|
NM_003000.3(SDHB):c.72+3G>C
|
|
|
|
NM_003000.3(SDHB):c.72+4A>G
|
rs1228108598
|
|
|
NM_003000.3(SDHB):c.72+5G>A
|
rs878854581
|
|
|
NM_003000.3(SDHB):c.72+7C>A
|
rs1553179311
|
|
|
NM_003000.3(SDHB):c.72+7C>G
|
|
|
|
NM_003000.3(SDHB):c.72+7C>T
|
rs1553179311
|
|
|
NM_003000.3(SDHB):c.72+8C>G
|
rs1570963404
|
|
|
NM_003000.3(SDHB):c.72+8C>T
|
rs1570963404
|
|
|
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
|
NM_003000.3(SDHB):c.723C>T (p.Tyr241=)
|
rs878854583
|
|
|
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)
|
rs786203251
|
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
|
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp)
|
rs2101513669
|
|
|
NM_003000.3(SDHB):c.729C>T (p.Cys243=)
|
|
|
|
NM_003000.3(SDHB):c.72G>A (p.Gln24=)
|
rs1553179312
|
|
|
NM_003000.3(SDHB):c.72G>C (p.Gln24His)
|
rs1553179312
|
|
|
NM_003000.3(SDHB):c.73-10A>C
|
rs376494419
|
|
|
NM_003000.3(SDHB):c.73-13T>C
|
rs769480915
|
|
|
NM_003000.3(SDHB):c.73-13T>G
|
rs769480915
|
|
|
NM_003000.3(SDHB):c.73-14T>A
|
|
|
|
NM_003000.3(SDHB):c.73-17A>C
|
rs2101541691
|
|
|
NM_003000.3(SDHB):c.73-17del
|
|
|
|
NM_003000.3(SDHB):c.73-19G>A
|
|
|
|
NM_003000.3(SDHB):c.73-1G>A
|
rs1131691055
|
|
|
NM_003000.3(SDHB):c.73-1G>T
|
rs1131691055
|
|
|
NM_003000.3(SDHB):c.73-20T>G
|
|
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
|
NM_003000.3(SDHB):c.73-2A>C
|
|
|
|
NM_003000.3(SDHB):c.73-2A>T
|
rs1474282888
|
|
|
NM_003000.3(SDHB):c.73-5T>G
|
rs747649519
|
|
|
NM_003000.3(SDHB):c.73-7A>C
|
rs770733541
|
|
|
NM_003000.3(SDHB):c.73-7del
|
rs2101541662
|
|
|
NM_003000.3(SDHB):c.73-8A>G
|
|
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
|
NM_003000.3(SDHB):c.732C>T (p.His244=)
|
rs1570944785
|
|
|
NM_003000.3(SDHB):c.733A>G (p.Thr245Ala)
|
|
|
|
NM_003000.3(SDHB):c.734C>T (p.Thr245Ile)
|
|
|
|
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe)
|
rs146800605
|
|
|
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)
|
rs1570944778
|
|
|
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)
|
rs1476198465
|
|
|
NM_003000.3(SDHB):c.738C>T (p.Ile246=)
|
rs1476198465
|
|
|
NM_003000.3(SDHB):c.73G>A (p.Ala25Thr)
|
rs768101924
|
|
|
NM_003000.3(SDHB):c.73G>C (p.Ala25Pro)
|
rs768101924
|
|
|
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)
|
rs768101924
|
|
|
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)
|
rs2077968110
|
|
|
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)
|
rs2077968110
|
|
|
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)
|
rs2077968110
|
|
|
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)
|
rs2077968083
|
|
|
NM_003000.3(SDHB):c.743_765+36del
|
rs2101513438
|
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
|
NM_003000.3(SDHB):c.751_754del (p.Arg251fs)
|
|
|
|
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)
|
rs2077968005
|
|
|
NM_003000.3(SDHB):c.753G>A (p.Arg251=)
|
rs201094649
|
|
|
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)
|
rs201094649
|
|
|
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)
|
|
|
|
NM_003000.3(SDHB):c.756C>T (p.Thr252=)
|
|
|
|
NM_003000.3(SDHB):c.756_765+4del
|
rs1553177267
|
|
|
NM_003000.3(SDHB):c.757T>C (p.Cys253Arg)
|
|
|
|
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)
|
rs786201085
|
|
|
NM_003000.3(SDHB):c.759T>C (p.Cys253=)
|
rs2101513546
|
|
|
NM_003000.3(SDHB):c.75del (p.Ser26fs)
|
rs2101541632
|
|
|
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)
|
rs2101513538
|
|
|
NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)
|
|
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
|
NM_003000.3(SDHB):c.761_765+33del
|
rs2077967597
|
|
|
NM_003000.3(SDHB):c.762T>C (p.Pro254=)
|
rs2101513519
|
|
|
NM_003000.3(SDHB):c.763A>G (p.Lys255Glu)
|
rs1570944737
|
|
|
NM_003000.3(SDHB):c.765+14G>C
|
rs1334964001
|
|
|
NM_003000.3(SDHB):c.765+16G>A
|
rs1233279059
|
|
|
NM_003000.3(SDHB):c.765+16G>T
|
|
|
|
NM_003000.3(SDHB):c.765+1G>A
|
rs2101513511
|
|
|
NM_003000.3(SDHB):c.765+20C>T
|
|
|
|
NM_003000.3(SDHB):c.765+3A>T
|
rs2077967877
|
|
|
NM_003000.3(SDHB):c.765+4C>A
|
rs776039903
|
|
|
NM_003000.3(SDHB):c.765+4C>G
|
|
|
|
NM_003000.3(SDHB):c.765+5G>T
|
rs199945904
|
|
|
NM_003000.3(SDHB):c.765+6T>C
|
rs2101513489
|
|
|
NM_003000.3(SDHB):c.765+8G>A
|
rs1553177265
|
|
|
NM_003000.3(SDHB):c.765+8G>T
|
rs1553177265
|
|
|
NM_003000.3(SDHB):c.765+9G>A
|
|
|
|
NM_003000.3(SDHB):c.765+9G>T
|
|
|
|
NM_003000.3(SDHB):c.766-11C>G
|
|
|
|
NM_003000.3(SDHB):c.766-14T>C
|
|
|
|
NM_003000.3(SDHB):c.766-18C>G
|
|
|
|
NM_003000.3(SDHB):c.766-18C>T
|
|
|
|
NM_003000.3(SDHB):c.766-19del
|
rs1553176985
|
|
|
NM_003000.3(SDHB):c.766-21_766-19del
|
|
|
|
NM_003000.3(SDHB):c.766-4C>A
|
|
|
|
NM_003000.3(SDHB):c.766-5T>C
|
rs2101508325
|
|
|
NM_003000.3(SDHB):c.766-6T>C
|
rs1553176984
|
|
|
NM_003000.3(SDHB):c.768T>C (p.Gly256=)
|
rs1060505017
|
|
|
NM_003000.3(SDHB):c.770T>A (p.Leu257Gln)
|
rs1570942652
|
|
|
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)
|
rs1570942652
|
|
|
NM_003000.3(SDHB):c.772A>C (p.Asn258His)
|
rs2077946345
|
|
|
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)
|
rs1570942645
|
|
|
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
|
|
|
|
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)
|
rs2077946320
|
|
|
NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)
|
|
|
|
NM_003000.3(SDHB):c.777A>G (p.Pro259=)
|
|
|
|
NM_003000.3(SDHB):c.777A>T (p.Pro259=)
|
rs2101508283
|
|
|
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)
|
|
|
|
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)
|
|
|
|
NM_003000.3(SDHB):c.780dup (p.Lys261fs)
|
rs1557738304
|
|
|
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)
|
rs1553176980
|
|
|
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)
|
rs1553176976
|
|
|
NM_003000.3(SDHB):c.784del (p.Ala262fs)
|
|
|
|
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)
|
rs1553176979
|
|
|
NM_003000.3(SDHB):c.786T>C (p.Ala262=)
|
rs768118230
|
|
|
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)
|
|
|
|
NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)
|
|
|
|
NM_003000.3(SDHB):c.789T>C (p.Ile263=)
|
rs1395418494
|
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
|
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)
|
rs1557738283
|
|
|
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)
|
rs2101508231
|
|
|
NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)
|
|
|
|
NM_003000.3(SDHB):c.798C>T (p.Ile266=)
|
rs760042733
|
|
|
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)
|
rs2077946088
|
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
|
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)
|
rs771388711
|
|
|
NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)
|
rs1060503755
|
|
|
NM_003000.3(SDHB):c.805A>G (p.Met269Val)
|
rs749612417
|
|
|
NM_003000.3(SDHB):c.808A>G (p.Met270Val)
|
rs878854584
|
|
|
NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)
|
|
|
|
NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)
|
|
|
|
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)
|
rs2077945936
|
|
|
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)
|
rs1195207024
|
|
|
NM_003000.3(SDHB):c.816C>G (p.Thr272=)
|
rs1454454086
|
|
|
NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)
|
rs773523792
|
|
|
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)
|
rs1553176966
|
|
|
NM_003000.3(SDHB):c.819T>C (p.Tyr273=)
|
|
|
|
NM_003000.3(SDHB):c.823_825del (p.Glu275del)
|
rs1221042239
|
|
|
NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)
|
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
|
NM_003000.3(SDHB):c.82G>A (p.Gly28Arg)
|
rs2078100857
|
|
|
NM_003000.3(SDHB):c.831del (p.Ala278fs)
|
rs2101508099
|
|
|
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)
|
|
|
|
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)
|
rs1275426951
|
|
|
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)
|
rs2101508075
|
|
|
NM_003000.3(SDHB):c.837A>G (p.Ser279=)
|
rs770120161
|
|
|
NM_003000.3(SDHB):c.83G>C (p.Gly28Ala)
|
|
|
|
NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)
|
rs1316826258
|
|
|
NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)
|
|
|
|
NM_003000.3(SDHB):c.85G>T (p.Ala29Ser)
|
|
|
|
NM_003000.3(SDHB):c.88del (p.Gln30fs)
|
rs747198089
|
|
|
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)
|
rs11203289
|
|
|
NM_003000.3(SDHB):c.8C>T (p.Ala3Val)
|
rs11203289
|
|
|
NM_003000.3(SDHB):c.90G>A (p.Gln30=)
|
|
|
|
NM_003000.3(SDHB):c.90G>C (p.Gln30His)
|
|
|
|
NM_003000.3(SDHB):c.91A>G (p.Thr31Ala)
|
|
|
|
NM_003000.3(SDHB):c.92C>G (p.Thr31Arg)
|
|
|
|
NM_003000.3(SDHB):c.92C>T (p.Thr31Ile)
|
rs1553178750
|
|
|
NM_003000.3(SDHB):c.93A>T (p.Thr31=)
|
rs2101541592
|
|
|
NM_003000.3(SDHB):c.94G>A (p.Ala32Thr)
|
rs1570958136
|
|
|
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)
|
rs1570958136
|
|
|
NM_003000.3(SDHB):c.95C>T (p.Ala32Val)
|
rs1570958135
|
|
|
NM_003000.3(SDHB):c.96T>C (p.Ala32=)
|
|
|
|
NM_003000.3(SDHB):c.96T>G (p.Ala32=)
|
rs1484330671
|
|
|
NM_003000.3(SDHB):c.98C>T (p.Ala33Val)
|
|
|
|
NM_003000.3(SDHB):c.9G>A (p.Ala3=)
|
rs1350879010
|
|
|
NM_003000.3(SDHB):c.9G>C (p.Ala3=)
|
rs1350879010
|
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
|
NM_003001.3(SDHC):c.406-?_*2318+?del
|
|
|
|
NM_003001.5(SDHC):c.102C>T (p.Ala34=)
|
rs1571851493
|
|
|
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr)
|
rs1342764291
|
|
|
NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)
|
|
|
|
NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)
|
|
|
|
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)
|
|
|
|
NM_003001.5(SDHC):c.108A>G (p.Glu36=)
|
rs2102307691
|
|
|
NM_003001.5(SDHC):c.10C>G (p.Leu4Val)
|
rs770796603
|
|
|
NM_003001.5(SDHC):c.10C>T (p.Leu4=)
|
|
|
|
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)
|
|
|
|
NM_003001.5(SDHC):c.110A>T (p.Glu37Val)
|
rs1671147192
|
|
|
NM_003001.5(SDHC):c.113T>C (p.Met38Thr)
|
rs1671147353
|
|
|
NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)
|
|
|
|
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly)
|
rs978019587
|
|
|
NM_003001.5(SDHC):c.118del (p.Arg40fs)
|
|
|
|
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)
|
|
|
|
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)
|
rs774299337
|
|
|
NM_003001.5(SDHC):c.120G>C (p.Arg40=)
|
rs36097930
|
|
|
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu)
|
rs2102307780
|
|
|
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser)
|
rs1671152402
|
|
|
NM_003001.5(SDHC):c.124del (p.Trp42fs)
|
rs2102307803
|
|
|
NM_003001.5(SDHC):c.127A>C (p.Asn43His)
|
rs1553262439
|
|
|
NM_003001.5(SDHC):c.12G>A (p.Leu4=)
|
rs745443094
|
|
|
NM_003001.5(SDHC):c.12G>T (p.Leu4=)
|
rs745443094
|
|
|
NM_003001.5(SDHC):c.130A>G (p.Lys44Glu)
|
rs2102307825
|
|
|
NM_003001.5(SDHC):c.132G>A (p.Lys44=)
|
rs2102307834
|
|
|
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)
|
|
|
|
NM_003001.5(SDHC):c.135T>C (p.Asn45=)
|
rs2102307847
|
|
|
NM_003001.5(SDHC):c.136A>G (p.Ile46Val)
|
rs1558167321
|
|
|
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)
|
|
|
|
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)
|
|
|
|
NM_003001.5(SDHC):c.13T>A (p.Leu5Met)
|
rs894925936
|
|
|
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)
|
rs1571851599
|
|
|
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)
|
rs1362354860
|
|
|
NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)
|
|
|
|
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)
|
rs1571851610
|
|
|
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile)
|
rs1571851610
|
|
|
NM_003001.5(SDHC):c.149G>A (p.Arg50His)
|
rs769177037
|
|
|
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)
|
rs769177037
|
|
|
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)
|
rs1428542772
|
|
|
NM_003001.5(SDHC):c.154C>G (p.Leu52Val)
|
|
|
|
NM_003001.5(SDHC):c.154C>T (p.Leu52=)
|
|
|
|
NM_003001.5(SDHC):c.156G>A (p.Leu52=)
|
rs987490127
|
|
|
NM_003001.5(SDHC):c.156G>C (p.Leu52=)
|
rs987490127
|
|
|
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr)
|
rs1553262444
|
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
|
NM_003001.5(SDHC):c.162C>A (p.Pro54=)
|
rs374450282
|
|
|
NM_003001.5(SDHC):c.163C>G (p.His55Asp)
|
rs1671155800
|
|
|
NM_003001.5(SDHC):c.164A>G (p.His55Arg)
|
rs878854585
|
|
|
NM_003001.5(SDHC):c.165C>T (p.His55=)
|
rs786202080
|
|
|
NM_003001.5(SDHC):c.166A>G (p.Ile56Val)
|
rs1363555121
|
|
|
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
|
|
|
|
NM_003001.5(SDHC):c.16C>G (p.Leu6Val)
|
rs1325823872
|
|
|
NM_003001.5(SDHC):c.171T>A (p.Thr57=)
|
|
|
|
NM_003001.5(SDHC):c.171_179+15del
|
rs1671156558
|
|
|
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr)
|
rs999134407
|
|
|
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe)
|
rs1671156871
|
|
|
NM_003001.5(SDHC):c.174C>A (p.Ile58=)
|
|
|
|
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)
|
|
|
|
NM_003001.5(SDHC):c.175del (p.Tyr59fs)
|
rs1671157149
|
|
|
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
|
|
|
|
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly)
|
rs1571851728
|
|
|
NM_003001.5(SDHC):c.179+10_179+19del
|
rs2102308128
|
|
|
NM_003001.5(SDHC):c.179+10del
|
|
|
|
NM_003001.5(SDHC):c.179+12T>C
|
|
|
|
NM_003001.5(SDHC):c.179+17G>C
|
rs2102308146
|
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
|
NM_003001.5(SDHC):c.179+1G>T
|
rs1057517818
|
|
|
NM_003001.5(SDHC):c.179+20C>A
|
rs2102308154
|
|
|
NM_003001.5(SDHC):c.179+20C>G
|
|
|
|
NM_003001.5(SDHC):c.179+2T>A
|
|
|
|
NM_003001.5(SDHC):c.179+3405A>G
|
|
|
|
NM_003001.5(SDHC):c.179+3A>C
|
rs1571851753
|
|
|
NM_003001.5(SDHC):c.179+3A>G
|
|
|
|
NM_003001.5(SDHC):c.179+4A>G
|
|
|
|
NM_003001.5(SDHC):c.179+5G>C
|
rs1671157979
|
|
|
NM_003001.5(SDHC):c.179+8A>C
|
rs2102308122
|
|
|
NM_003001.5(SDHC):c.179+9G>A
|
rs1558167376
|
|
|
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn)
|
rs1179839529
|
|
|
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)
|
rs1211574644
|
|
|
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)
|
rs1553260596
|
|
|
NM_003001.5(SDHC):c.180-10T>C
|
rs2102335974
|
|
|
NM_003001.5(SDHC):c.180-10T>G
|
|
|
|
NM_003001.5(SDHC):c.180-11T>G
|
rs201473466
|
|
|
NM_003001.5(SDHC):c.180-12G>A
|
|
|
|
NM_003001.5(SDHC):c.180-13T>C
|
|
|
|
NM_003001.5(SDHC):c.180-15T>A
|
rs2102335958
|
|
|
NM_003001.5(SDHC):c.180-16G>A
|
|
|
|
NM_003001.5(SDHC):c.180-17T>C
|
|
|
|
NM_003001.5(SDHC):c.180-19T>C
|
|
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
|
NM_003001.5(SDHC):c.180-3C>T
|
rs1328389180
|
|
|
NM_003001.5(SDHC):c.180-4A>G
|
|
|
|
NM_003001.5(SDHC):c.180-9T>C
|
rs2102335976
|
|
|
NM_003001.5(SDHC):c.180T>C (p.Ser60=)
|
rs752482067
|
|
|
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)
|
rs1571869120
|
|
|
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)
|
|
|
|
NM_003001.5(SDHC):c.183del (p.Trp61fs)
|
rs1671684409
|
|
|
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys)
|
rs1558174466
|
|
|
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe)
|
rs2102336071
|
|
|
NM_003001.5(SDHC):c.18G>C (p.Leu6=)
|
rs1571828901
|
|
|
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser)
|
rs1571869136
|
|
|
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu)
|
rs876658398
|
|
|
NM_003001.5(SDHC):c.193A>G (p.Met65Val)
|
rs1060501392
|
|
|
NM_003001.5(SDHC):c.193A>T (p.Met65Leu)
|
rs1060501392
|
|
|
NM_003001.5(SDHC):c.194T>A (p.Met65Lys)
|
rs2102336108
|
|
|
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr)
|
rs1162090559
|
|
|
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu)
|
rs760572684
|
|
|
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly)
|
rs760572684
|
|
|
NM_003001.5(SDHC):c.19A>C (p.Arg7=)
|
rs1670521233
|
|
|
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)
|
|
|
|
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)
|
rs755235380
|
|
|
NM_003001.5(SDHC):c.20+10G>A
|
rs1060504224
|
|
|
NM_003001.5(SDHC):c.20+10_20+11insCG
|
rs2102271943
|
|
|
NM_003001.5(SDHC):c.20+11_20+12insTT
|
|
|
|
NM_003001.5(SDHC):c.20+13G>A
|
|
|
|
NM_003001.5(SDHC):c.20+14G>A
|
|
|
|
NM_003001.5(SDHC):c.20+14G>T
|
rs2102272018
|
|
|
NM_003001.5(SDHC):c.20+15A>C
|
|
|
|
NM_003001.5(SDHC):c.20+16C>A
|
rs2102272025
|
|
|
NM_003001.5(SDHC):c.20+17T>A
|
rs2102272030
|
|
|
NM_003001.5(SDHC):c.20+18G>A
|
rs2102272035
|
|
|
NM_003001.5(SDHC):c.20+1G>A
|
|
|
|
NM_003001.5(SDHC):c.20+1G>T
|
rs1249046874
|
|
|
NM_003001.5(SDHC):c.20+3G>C
|
rs377566366
|
|
|
NM_003001.5(SDHC):c.20+4066C>G
|
|
|
|
NM_003001.5(SDHC):c.20+4A>G
|
|
|
|
NM_003001.5(SDHC):c.20+4del
|
rs2102271885
|
|
|
NM_003001.5(SDHC):c.20+5C>T
|
rs760206414
|
|
|
NM_003001.5(SDHC):c.20+6T>A
|
|
|
|
NM_003001.5(SDHC):c.20+6T>G
|
rs1013252106
|
|
|
NM_003001.5(SDHC):c.20+7T>G
|
rs1553260599
|
|
|
NM_003001.5(SDHC):c.20+8C>A
|
rs773661299
|
|
|
NM_003001.5(SDHC):c.20+98C>T
|
|
|
|
NM_003001.5(SDHC):c.20+9A>C
|
rs1271741954
|
|
|
NM_003001.5(SDHC):c.20+9A>G
|
|
|
|
NM_003001.5(SDHC):c.200T>A (p.Met67Lys)
|
rs1287584713
|
|
|
NM_003001.5(SDHC):c.200T>C (p.Met67Thr)
|
rs1287584713
|
|
|
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)
|
|
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
|
NM_003001.5(SDHC):c.203C>T (p.Ser68Phe)
|
|
|
|
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)
|
rs2102271857
|
|
|
NM_003001.5(SDHC):c.21-10T>C
|
rs771805280
|
|
|
NM_003001.5(SDHC):c.21-1G>A
|
|
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
|
NM_003001.5(SDHC):c.21-3C>G
|
rs1670921815
|
|
|
NM_003001.5(SDHC):c.21-3C>T
|
rs1670921815
|
|
|
NM_003001.5(SDHC):c.21-4G>A
|
|
|
|
NM_003001.5(SDHC):c.21-5T>G
|
|
|
|
NM_003001.5(SDHC):c.21-6T>C
|
rs779721144
|
|
|
NM_003001.5(SDHC):c.21-7C>T
|
|
|
|
NM_003001.5(SDHC):c.21-8T>C
|
rs1571843525
|
|
|
NM_003001.5(SDHC):c.21-9A>G
|
rs2102295295
|
|
|
NM_003001.5(SDHC):c.21-9A>T
|
rs2102295295
|
|
|
NM_003001.5(SDHC):c.210C>T (p.Cys70=)
|
rs2102336228
|
|
|
NM_003001.5(SDHC):c.211C>T (p.His71Tyr)
|
|
|
|
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
|
|
|
|
NM_003001.5(SDHC):c.214del (p.Arg72fs)
|
rs2102336244
|
|
|
NM_003001.5(SDHC):c.215del (p.Arg72fs)
|
rs1553264218
|
|
|
NM_003001.5(SDHC):c.219C>T (p.Gly73=)
|
rs752049668
|
|
|
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala)
|
rs1060501391
|
|
|
NM_003001.5(SDHC):c.220dup (p.Thr74fs)
|
|
|
|
NM_003001.5(SDHC):c.222T>C (p.Thr74=)
|
|
|
|
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)
|
rs786205147
|
|
|
NM_003001.5(SDHC):c.226A>G (p.Ile76Val)
|
rs1060501389
|
|
|
NM_003001.5(SDHC):c.22C>A (p.His8Asn)
|
rs746666691
|
|
|
NM_003001.5(SDHC):c.22C>T (p.His8Tyr)
|
rs746666691
|
|
|
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)
|
rs1060501393
|
|
|
NM_003001.5(SDHC):c.232T>C (p.Leu78=)
|
rs1553264225
|
|
|
NM_003001.5(SDHC):c.232T>G (p.Leu78Val)
|
rs1553264225
|
|
|
NM_003001.5(SDHC):c.233dup (p.Leu78fs)
|
rs1571869304
|
|
|
NM_003001.5(SDHC):c.237T>C (p.Ser79=)
|
|
|
|
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)
|
|
|
|
NM_003001.5(SDHC):c.240A>G (p.Ala80=)
|
rs1671687938
|
|
|
NM_003001.5(SDHC):c.241+12T>C
|
rs2102336458
|
|
|
NM_003001.5(SDHC):c.241+13_241+14del
|
rs2102336452
|
|
|
NM_003001.5(SDHC):c.241+14T>C
|
rs2102336463
|
|
|
NM_003001.5(SDHC):c.241+15T>C
|
|
|
|
NM_003001.5(SDHC):c.241+17T>C
|
|
|
|
NM_003001.5(SDHC):c.241+18T>A
|
rs2102336473
|
|
|
NM_003001.5(SDHC):c.241+19A>G
|
|
|
|
NM_003001.5(SDHC):c.241+20C>A
|
|
|
|
NM_003001.5(SDHC):c.241+20C>G
|
|
|
|
NM_003001.5(SDHC):c.241+3A>G
|
rs1413662099
|
|
|
NM_003001.5(SDHC):c.241+4T>C
|
|
|
|
NM_003001.5(SDHC):c.241+5G>A
|
rs1167538377
|
|
|
NM_003001.5(SDHC):c.241+5dup
|
rs2102336440
|
|
|
NM_003001.5(SDHC):c.241+7A>C
|
|
|
|
NM_003001.5(SDHC):c.241+7_241+10del
|
rs1571869349
|
|
|
NM_003001.5(SDHC):c.241+9_241+10del
|
rs1571869349
|
|
|
NM_003001.5(SDHC):c.241G>T (p.Gly81Trp)
|
rs2102336404
|
|
|
NM_003001.5(SDHC):c.242-13G>C
|
|
|
|
NM_003001.5(SDHC):c.242-20C>G
|
|
|
|
NM_003001.5(SDHC):c.242-6C>A
|
rs1571889931
|
|
|
NM_003001.5(SDHC):c.242-6C>T
|
rs1571889931
|
|
|
NM_003001.5(SDHC):c.242-9del
|
|
|
|
NM_003001.5(SDHC):c.243G>A (p.Gly81=)
|
|
|
|
NM_003001.5(SDHC):c.243G>C (p.Gly81=)
|
rs1314593051
|
|
|
NM_003001.5(SDHC):c.243G>T (p.Gly81=)
|
rs1314593051
|
|
|
NM_003001.5(SDHC):c.244G>A (p.Val82Ile)
|
rs570325845
|
|
|
NM_003001.5(SDHC):c.244G>T (p.Val82Phe)
|
rs570325845
|
|
|
NM_003001.5(SDHC):c.246C>G (p.Val82=)
|
rs2102370246
|
|
|
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro)
|
rs1558182753
|
|
|
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala)
|
rs1558182753
|
|
|
NM_003001.5(SDHC):c.247dup (p.Ser83fs)
|
rs1672284298
|
|
|
NM_003001.5(SDHC):c.24C>A (p.His8Gln)
|
rs761381438
|
|
|
NM_003001.5(SDHC):c.24C>T (p.His8=)
|
rs761381438
|
|
|
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile)
|
rs942160050
|
|
|
NM_003001.5(SDHC):c.250C>G (p.Leu84Val)
|
rs942160050
|
|
|
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)
|
rs2102370242
|
|
|
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg)
|
rs1672284764
|
|
|
NM_003001.5(SDHC):c.252T>C (p.Leu84=)
|
|
|
|
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)
|
rs1672284859
|
|
|
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys)
|
rs1672284859
|
|
|
NM_003001.5(SDHC):c.255T>C (p.Phe85=)
|
rs2102370353
|
|
|
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)
|
|
|
|
NM_003001.5(SDHC):c.258C>T (p.Gly86=)
|
|
|
|
NM_003001.5(SDHC):c.259A>G (p.Met87Val)
|
rs756382502
|
|
|
NM_003001.5(SDHC):c.25G>T (p.Val9Phe)
|
rs774768866
|
|
|
NM_003001.5(SDHC):c.260T>C (p.Met87Thr)
|
rs2102370399
|
|
|
NM_003001.5(SDHC):c.267C>T (p.Ala89=)
|
|
|
|
NM_003001.5(SDHC):c.268C>T (p.Leu90=)
|
|
|
|
NM_003001.5(SDHC):c.271T>G (p.Leu91Val)
|
rs144532303
|
|
|
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe)
|
rs1672286186
|
|
|
NM_003001.5(SDHC):c.276C>G (p.Leu92=)
|
|
|
|
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
|
|
|
|
NM_003001.5(SDHC):c.278dup (p.Gly94fs)
|
rs1483039185
|
|
|
NM_003001.5(SDHC):c.279T>G (p.Pro93=)
|
rs2102370578
|
|
|
NM_003001.5(SDHC):c.282G>T (p.Gly94=)
|
rs536197277
|
|
|
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)
|
|
|
|
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)
|
|
|
|
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly)
|
rs1672286669
|
|
|
NM_003001.5(SDHC):c.291G>A (p.Glu97=)
|
|
|
|
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)
|
|
|
|
NM_003001.5(SDHC):c.294T>C (p.Ser98=)
|
rs376292127
|
|
|
NM_003001.5(SDHC):c.294T>G (p.Ser98=)
|
rs376292127
|
|
|
NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys)
|
rs1060501390
|
|
|
NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)
|
|
|
|
NM_003001.5(SDHC):c.297T>C (p.Tyr99=)
|
rs2102370693
|
|
|
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala)
|
rs1670923061
|
|
|
NM_003001.5(SDHC):c.2T>C (p.Met1Thr)
|
|
|
|
NM_003001.5(SDHC):c.2T>G (p.Met1Arg)
|
rs1670517782
|
|
|
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys)
|
rs1571890168
|
|
|
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe)
|
rs1571890177
|
|
|
NM_003001.5(SDHC):c.307G>A (p.Val103Met)
|
rs896411432
|
|
|
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)
|
|
|
|
NM_003001.5(SDHC):c.30T>C (p.Gly10=)
|
rs1170595036
|
|
|
NM_003001.5(SDHC):c.30T>G (p.Gly10=)
|
|
|
|
NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)
|
|
|
|
NM_003001.5(SDHC):c.315C>G (p.Ser105=)
|
rs2102370802
|
|
|
NM_003001.5(SDHC):c.315C>T (p.Ser105=)
|
rs2102370802
|
|
|
NM_003001.5(SDHC):c.316C>G (p.Leu106Val)
|
|
|
|
NM_003001.5(SDHC):c.318G>A (p.Leu106=)
|
rs1166833684
|
|
|
NM_003001.5(SDHC):c.322C>T (p.Leu108=)
|
rs2102370841
|
|
|
NM_003001.5(SDHC):c.329C>T (p.Pro110Leu)
|
rs776485432
|
|
|
NM_003001.5(SDHC):c.32G>A (p.Arg11His)
|
rs767802663
|
|
|
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu)
|
rs767802663
|
|
|
NM_003001.5(SDHC):c.332C>T (p.Ala111Val)
|
|
|
|
NM_003001.5(SDHC):c.333A>G (p.Ala111=)
|
rs950221552
|
|
|
NM_003001.5(SDHC):c.334C>T (p.Leu112=)
|
rs1329297940
|
|
|
NM_003001.5(SDHC):c.337A>G (p.Ile113Val)
|
rs1558182863
|
|
|
NM_003001.5(SDHC):c.341A>C (p.His114Pro)
|
|
|
|
NM_003001.5(SDHC):c.345A>G (p.Thr115=)
|
rs2102371010
|
|
|
NM_003001.5(SDHC):c.348T>C (p.Ala116=)
|
|
|
|
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
|
|
|
|
NM_003001.5(SDHC):c.349_350del (p.Lys117fs)
|
rs1672291512
|
|
|
NM_003001.5(SDHC):c.34C>G (p.His12Asp)
|
rs1670923808
|
|
|
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)
|
rs1571890337
|
|
|
NM_003001.5(SDHC):c.351G>A (p.Lys117=)
|
rs1571890344
|
|
|
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
|
|
|
|
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
|
|
|
|
NM_003001.5(SDHC):c.357A>G (p.Ala119=)
|
rs2102371098
|
|
|
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)
|
rs1672292051
|
|
|
NM_003001.5(SDHC):c.35A>G (p.His12Arg)
|
rs1670923933
|
|
|
NM_003001.5(SDHC):c.35A>T (p.His12Leu)
|
|
|
|
NM_003001.5(SDHC):c.360T>C (p.Leu120=)
|
rs2102371131
|
|
|
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
|
|
|
|
NM_003001.5(SDHC):c.363C>A (p.Val121=)
|
|
|
|
NM_003001.5(SDHC):c.363C>T (p.Val121=)
|
rs1273832397
|
|
|
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu)
|
rs1553265808
|
|
|
NM_003001.5(SDHC):c.364T>G (p.Phe122Val)
|
rs1553265808
|
|
|
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu)
|
rs868596979
|
|
|
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala)
|
rs773039986
|
|
|
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)
|
rs773039986
|
|
|
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu)
|
rs1571890413
|
|
|
NM_003001.5(SDHC):c.36T>C (p.His12=)
|
|
|
|
NM_003001.5(SDHC):c.370C>G (p.Leu124Val)
|
rs1571890420
|
|
|
NM_003001.5(SDHC):c.372C>A (p.Leu124=)
|
rs766007157
|
|
|
NM_003001.5(SDHC):c.373A>G (p.Met125Val)
|
rs771059368
|
|
|
NM_003001.5(SDHC):c.374T>C (p.Met125Thr)
|
rs1060501387
|
|
|
NM_003001.5(SDHC):c.375G>A (p.Met125Ile)
|
|
|
|
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)
|
rs1553265817
|
|
|
NM_003001.5(SDHC):c.379C>A (p.His127Asn)
|
rs1485675090
|
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
|
NM_003001.5(SDHC):c.379C>T (p.His127Tyr)
|
rs1485675090
|
|
|
NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)
|
|
|
|
NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)
|
|
|
|
NM_003001.5(SDHC):c.381T>C (p.His127=)
|
rs867566924
|
|
|
NM_003001.5(SDHC):c.384C>T (p.Thr128=)
|
rs1553265821
|
|
|
NM_003001.5(SDHC):c.385T>C (p.Trp129Arg)
|
rs541278701
|
|
|
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
|
rs1672294906
|
|
|
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)
|
rs981049067
|
|
|
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)
|
rs981049067
|
|
|
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr)
|
rs1558164528
|
|
|
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser)
|
rs1558164528
|
|
|
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe)
|
rs1558164528
|
|
|
NM_003001.5(SDHC):c.390T>C (p.Asn130=)
|
rs2102371399
|
|
|
NM_003001.5(SDHC):c.393G>A (p.Gly131=)
|
|
|
|
NM_003001.5(SDHC):c.393G>T (p.Gly131=)
|
|
|
|
NM_003001.5(SDHC):c.394A>G (p.Ile132Val)
|
rs2102371416
|
|
|
NM_003001.5(SDHC):c.396C>A (p.Ile132=)
|
|
|
|
NM_003001.5(SDHC):c.399A>G (p.Arg133=)
|
|
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
|
NM_003001.5(SDHC):c.402C>T (p.His134=)
|
rs754213041
|
|
|
NM_003001.5(SDHC):c.403T>A (p.Leu135Met)
|
rs1455783076
|
|
|
NM_003001.5(SDHC):c.405+11T>G
|
rs2102371559
|
|
|
NM_003001.5(SDHC):c.405+12C>A
|
|
|
|
NM_003001.5(SDHC):c.405+13G>T
|
|
|
|
NM_003001.5(SDHC):c.405+15G>A
|
rs768628609
|
|
|
NM_003001.5(SDHC):c.405+16A>C
|
rs2102371614
|
|
|
NM_003001.5(SDHC):c.405+18T>C
|
|
|
|
NM_003001.5(SDHC):c.405+1G>A
|
rs587776653
|
|
|
NM_003001.5(SDHC):c.405+1G>C
|
rs587776653
|
|
|
NM_003001.5(SDHC):c.405+1del
|
rs1558182956
|
|
|
NM_003001.5(SDHC):c.405+6T>G
|
|
|
|
NM_003001.5(SDHC):c.405+7T>A
|
|
|
|
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe)
|
rs757663926
|
|
|
NM_003001.5(SDHC):c.406-10T>C
|
rs1060504225
|
|
|
NM_003001.5(SDHC):c.406-10T>G
|
rs1060504225
|
|
|
NM_003001.5(SDHC):c.406-1G>A
|
|
|
|
NM_003001.5(SDHC):c.406-2A>C
|
|
|
|
NM_003001.5(SDHC):c.406-3C>T
|
rs372490900
|
|
|
NM_003001.5(SDHC):c.406-4A>G
|
|
|
|
NM_003001.5(SDHC):c.406-5C>T
|
rs1442391429
|
|
|
NM_003001.5(SDHC):c.406-5del
|
|
|
|
NM_003001.5(SDHC):c.406-6C>G
|
rs1337338303
|
|
|
NM_003001.5(SDHC):c.406-7T>C
|
rs1672546572
|
|
|
NM_003001.5(SDHC):c.406-8G>A
|
rs747093483
|
|
|
NM_003001.5(SDHC):c.406-8G>T
|
rs747093483
|
|
|
NM_003001.5(SDHC):c.406A>C (p.Met136Leu)
|
rs1486341484
|
|
|
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg)
|
rs890210469
|
|
|
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu)
|
rs1060501385
|
|
|
NM_003001.5(SDHC):c.417A>G (p.Leu139=)
|
|
|
|
NM_003001.5(SDHC):c.419G>A (p.Gly140Glu)
|
|
|
|
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg)
|
rs1558185879
|
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
|
NM_003001.5(SDHC):c.423A>G (p.Lys141=)
|
rs2102385065
|
|
|
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys)
|
rs2102385085
|
|
|
NM_003001.5(SDHC):c.426C>T (p.Gly142=)
|
|
|
|
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)
|
rs1366410028
|
|
|
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)
|
rs1553266487
|
|
|
NM_003001.5(SDHC):c.435T>A (p.Ile145=)
|
|
|
|
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
|
|
|
|
NM_003001.5(SDHC):c.438C>A (p.Pro146=)
|
rs1418513098
|
|
|
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
|
rs1571898957
|
|
|
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly)
|
rs201286421
|
|
|
NM_003001.5(SDHC):c.441G>A (p.Gln147=)
|
|
|
|
NM_003001.5(SDHC):c.441G>T (p.Gln147His)
|
|
|
|
NM_003001.5(SDHC):c.442C>T (p.Leu148=)
|
|
|
|
NM_003001.5(SDHC):c.444A>G (p.Leu148=)
|
rs377230417
|
|
|
NM_003001.5(SDHC):c.445T>C (p.Tyr149His)
|
rs2102385345
|
|
|
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys)
|
rs773142195
|
|
|
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)
|
rs1294873008
|
|
|
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)
|
rs1558185927
|
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
|
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
|
|
|
|
NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)
|
|
|
|
NM_003001.5(SDHC):c.453T>C (p.Ser151=)
|
rs2102385466
|
|
|
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)
|
rs1558185932
|
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
|
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
|
|
|
|
NM_003001.5(SDHC):c.455G>T (p.Gly152Val)
|
rs1060501386
|
|
|
NM_003001.5(SDHC):c.456A>C (p.Gly152=)
|
rs886251473
|
|
|
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
|
|
|
|
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)
|
|
|
|
NM_003001.5(SDHC):c.45A>T (p.Arg15=)
|
rs1007336839
|
|
|
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
|
|
|
|
NM_003001.5(SDHC):c.460del (p.Val154fs)
|
rs786201665
|
|
|
NM_003001.5(SDHC):c.462T>C (p.Val154=)
|
rs2102385569
|
|
|
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
|
|
|
|
NM_003001.5(SDHC):c.464T>C (p.Val155Ala)
|
rs1672552536
|
|
|
NM_003001.5(SDHC):c.465C>G (p.Val155=)
|
rs1060504223
|
|
|
NM_003001.5(SDHC):c.466C>T (p.Leu156=)
|
rs1553266500
|
|
|
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)
|
|
|
|
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr)
|
rs878994954
|
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
|
|
|
NM_003001.5(SDHC):c.474T>G (p.Leu158=)
|
rs2102385657
|
|
|
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)
|
|
|
|
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)
|
rs2102385668
|
|
|
NM_003001.5(SDHC):c.477T>A (p.Thr159=)
|
rs759055559
|
|
|
NM_003001.5(SDHC):c.477T>C (p.Thr159=)
|
rs759055559
|
|
|
NM_003001.5(SDHC):c.478G>A (p.Val160Met)
|
rs1553266502
|
|
|
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp)
|
rs1558164567
|
|
|
NM_003001.5(SDHC):c.483G>A (p.Leu161=)
|
|
|
|
NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)
|
|
|
|
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys)
|
rs1553266504
|
|
|
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe)
|
rs1553266504
|
|
|
NM_003001.5(SDHC):c.486C>T (p.Ser162=)
|
rs2102385816
|
|
|
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro)
|
rs1553266506
|
|
|
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
|
|
|
|
NM_003001.5(SDHC):c.48C>G (p.Ala16=)
|
rs1553261765
|
|
|
NM_003001.5(SDHC):c.490A>G (p.Met164Val)
|
rs200375156
|
|
|
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)
|
|
|
|
NM_003001.5(SDHC):c.495G>A (p.Gly165=)
|
rs2102385878
|
|
|
NM_003001.5(SDHC):c.495G>T (p.Gly165=)
|
rs2102385878
|
|
|
NM_003001.5(SDHC):c.496C>T (p.Leu166=)
|
rs2102385898
|
|
|
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
|
NM_003001.5(SDHC):c.497dup (p.Ala167fs)
|
|
|
|
NM_003001.5(SDHC):c.49C>T (p.His17Tyr)
|
rs2102295552
|
|
|
NM_003001.5(SDHC):c.49del (p.His17fs)
|
|
|
|
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)
|
rs1198315342
|
|
|
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)
|
rs1198315342
|
|
|
NM_003001.5(SDHC):c.500C>T (p.Ala167Val)
|
|
|
|
NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)
|
|
|
|
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr)
|
rs1672554961
|
|
|
NM_003001.5(SDHC):c.504C>T (p.Ala168=)
|
rs1571899229
|
|
|
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
|
|
|
|
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe)
|
rs1571899249
|
|
|
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)
|
rs1672555380
|
|
|
NM_003001.5(SDHC):c.54T>C (p.Phe18=)
|
rs200761743
|
|
|
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly)
|
rs1670926798
|
|
|
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
|
|
|
|
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
|
|
|
|
NM_003001.5(SDHC):c.60T>G (p.Pro20=)
|
rs2102295634
|
|
|
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)
|
rs1553261768
|
|
|
NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)
|
|
|
|
NM_003001.5(SDHC):c.63G>A (p.Gln21=)
|
|
|
|
NM_003001.5(SDHC):c.66C>G (p.Leu22=)
|
rs778965036
|
|
|
NM_003001.5(SDHC):c.66C>T (p.Leu22=)
|
rs778965036
|
|
|
NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)
|
|
|
|
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg)
|
rs2102295690
|
|
|
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
|
|
|
|
NM_003001.5(SDHC):c.6T>A (p.Ala2=)
|
|
|
|
NM_003001.5(SDHC):c.6T>C (p.Ala2=)
|
rs775353334
|
|
|
NM_003001.5(SDHC):c.6T>G (p.Ala2=)
|
rs775353334
|
|
|
NM_003001.5(SDHC):c.71T>A (p.Ile24Asn)
|
rs2102295698
|
|
|
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly)
|
rs878854587
|
|
|
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)
|
|
|
|
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp)
|
rs1670928309
|
|
|
NM_003001.5(SDHC):c.77+1G>A
|
rs1558164647
|
|
|
NM_003001.5(SDHC):c.77+1G>C
|
|
|
|
NM_003001.5(SDHC):c.77+2dup
|
rs766486676
|
|
|
NM_003001.5(SDHC):c.77+5G>C
|
|
|
|
NM_003001.5(SDHC):c.77+9C>G
|
|
|
|
NM_003001.5(SDHC):c.77+9C>T
|
rs2102295766
|
|
|
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser)
|
rs1670928456
|
|
|
NM_003001.5(SDHC):c.78-15C>T
|
|
|
|
NM_003001.5(SDHC):c.78-16T>C
|
rs2102307516
|
|
|
NM_003001.5(SDHC):c.78-17G>A
|
|
|
|
NM_003001.5(SDHC):c.78-19C>A
|
rs144770080
|
|
|
NM_003001.5(SDHC):c.78-19del
|
|
|
|
NM_003001.5(SDHC):c.78-1G>T
|
rs786202200
|
|
|
NM_003001.5(SDHC):c.78-2A>G
|
|
|
|
NM_003001.5(SDHC):c.78-9T>G
|
rs2102307530
|
|
|
NM_003001.5(SDHC):c.78T>C (p.Asn26=)
|
|
|
|
NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)
|
|
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
|
NM_003001.5(SDHC):c.80C>T (p.Ala27Val)
|
|
|
|
NM_003001.5(SDHC):c.81T>C (p.Ala27=)
|
rs876659297
|
|
|
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)
|
rs754818119
|
|
|
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)
|
rs754818119
|
|
|
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)
|
rs1671145169
|
|
|
NM_003001.5(SDHC):c.86del (p.Pro29fs)
|
rs1671145065
|
|
|
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)
|
rs142139022
|
|
|
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)
|
|
|
|
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)
|
rs1457574786
|
|
|
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn)
|
rs1571851464
|
|
|
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser)
|
rs1571851464
|
|
|
NM_003001.5(SDHC):c.96C>T (p.Thr32=)
|
rs1671145722
|
|
|
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)
|
rs747828462
|
|
|
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys)
|
rs148566767
|
|
|
NM_003002.3(SDHD):c.-84_*831del
|
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
|
NM_003002.4(SDHD):c.10dup (p.Leu4fs)
|
rs878854589
|
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
|
NM_003002.4(SDHD):c.117del (p.Ile40fs)
|
|
|
|
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)
|
rs146276662
|
|
|
NM_003002.4(SDHD):c.128G>A (p.Trp43Ter)
|
rs2135267337
|
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
|
NM_003002.4(SDHD):c.173del (p.Gly58fs)
|
rs878854590
|
|
|
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)
|
rs1592780294
|
|
|
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)
|
rs1555186662
|
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
|
NM_003002.4(SDHD):c.217dup (p.Ser73fs)
|
rs2135269358
|
|
|
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
|
rs1592780479
|
|
|
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)
|
rs80338844
|
|
|
NM_003002.4(SDHD):c.242del (p.Pro81fs)
|
rs878854591
|
|
|
NM_003002.4(SDHD):c.278_280del (p.Tyr93del)
|
rs121908983
|
|
|
NM_003002.4(SDHD):c.298del (p.Thr100fs)
|
rs1555187067
|
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
|
NM_003002.4(SDHD):c.315-1G>A
|
rs1555187566
|
|
|
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)
|
rs1555187574
|
|
|
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)
|
rs1555187583
|
|
|
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs)
|
rs587776645
|
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
|
NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)
|
|
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
|
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)
|
rs80338847
|
|
|
NM_003002.4(SDHD):c.424_427del (p.Phe142fs)
|
rs2135277706
|
|
|
NM_003002.4(SDHD):c.443del (p.Gly148fs)
|
rs587776646
|
|
|
NM_003002.4(SDHD):c.463del (p.Met155fs)
|
rs587776647
|
|
|
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=)
|
rs878854596
|
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
|
NM_003002.4(SDHD):c.52+2T>G
|
rs587776644
|
|
|
NM_003002.4(SDHD):c.53-1_53delinsTT
|
rs1566691921
|
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
|
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
|
rs397514034
|
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
|
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu)
|
rs1471482709
|
|
|
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.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.1016C>T (p.Pro339Leu)
|
rs554354092
|
|
|
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.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>T (p.His346=)
|
rs2086198264
|
|
|
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.1052G>T (p.Arg351Leu)
|
rs1018881303
|
|
|
NM_003072.5(SMARCA4):c.1053C>T (p.Arg351=)
|
rs1555755220
|
|
|
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.1077G>A (p.Arg359=)
|
rs1555755272
|
|
|
NM_003072.5(SMARCA4):c.1077G>C (p.Arg359=)
|
|
|
|
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>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.1117A>G (p.Arg373Gly)
|
rs1555755346
|
|
|
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+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.1119-12C>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>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.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.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.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>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.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+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>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.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.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.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.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.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.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.1321C>A (p.Arg441Ser)
|
rs1600023226
|
|
|
NM_003072.5(SMARCA4):c.1321C>T (p.Arg441Cys)
|
rs1600023226
|
|
|
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.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.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>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>T (p.Ser46=)
|
rs1280365701
|
|
|
NM_003072.5(SMARCA4):c.1395G>A (p.Glu465=)
|
rs1600024348
|
|
|
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+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>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.1440C>T (p.Leu480=)
|
rs1555761995
|
|
|
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.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+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+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.1594-11T>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.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.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.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.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.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.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.1743GAA[1] (p.Lys588del)
|
rs747503505
|
|
|
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.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+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.1762-17TC[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.1762-8A>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.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.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.1812+11del
|
rs2145982263
|
|
|
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.1813-14T>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.1813-9_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.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.1836G>A (p.Met612Ile)
|
rs1600132619
|
|
|
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.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.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.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.1911G>A (p.Gly637=)
|
rs1555768411
|
|
|
NM_003072.5(SMARCA4):c.1914G>T (p.Gln638His)
|
rs1555768426
|
|
|
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>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.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.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.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.199G>A (p.Asp67Asn)
|
rs2085821918
|
|
|
NM_003072.5(SMARCA4):c.19C>G (p.Pro7Ala)
|
|
|
|
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+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+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.2002-1G>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.2002-5G>C
|
|
|
|
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.2010G>A (p.Glu670=)
|
rs1600167421
|
|
|
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.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.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.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.2053GAG[1] (p.Glu686del)
|
|
|
|
NM_003072.5(SMARCA4):c.2056G>A (p.Glu686Lys)
|
rs1555771625
|
|
|
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.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.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.2148T>C (p.Asp716=)
|
rs2146234166
|
|
|
NM_003072.5(SMARCA4):c.2149G>T (p.Glu717Ter)
|
rs2146234214
|
|
|
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.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.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.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+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.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>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.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.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>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>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.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.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.2304G>C (p.Leu768=)
|
rs772638166
|
|
|
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.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.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>T (p.Tyr795=)
|
rs878854208
|
|
|
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.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.2433T>C (p.Pro811=)
|
rs1600210118
|
|
|
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+15C>T
|
|
|
|
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.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>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+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.2506-11T>C
|
|
|
|
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.2506-20G>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.2540A>G (p.Gln847Arg)
|
rs2089681473
|
|
|
NM_003072.5(SMARCA4):c.2544C>G (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.2561A>G (p.Asn854Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2563G>A (p.Val855Ile)
|
rs1600258142
|
|
|
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.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.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+18G>A
|
|
|
|
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+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.2617-8G>A
|
rs369658986
|
|
|
NM_003072.5(SMARCA4):c.2617A>G (p.Ile873Val)
|
rs2146414847
|
|
|
NM_003072.5(SMARCA4):c.261C>T (p.Asp87=)
|
rs2145749616
|
|
|
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.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.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.2704G>A (p.Val902Met)
|
rs1600278307
|
|
|
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.2713C>G (p.Arg905Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys)
|
rs1555778721
|
|
|
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.2785C>T (p.Leu929=)
|
rs2146421301
|
|
|
NM_003072.5(SMARCA4):c.2787G>T (p.Leu929=)
|
rs1555778804
|
|
|
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+11C>T
|
rs2146424644
|
|
|
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+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>T
|
|
|
|
NM_003072.5(SMARCA4):c.2860-8_2860-7insT
|
rs2146451701
|
|
|
NM_003072.5(SMARCA4):c.2860-8del
|
rs2146451474
|
|
|
NM_003072.5(SMARCA4):c.2866C>T (p.Leu956=)
|
rs2146452136
|
|
|
NM_003072.5(SMARCA4):c.2868G>A (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.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>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.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+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+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>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.2974-2A>G
|
rs2146471651
|
|
|
NM_003072.5(SMARCA4):c.2974-5T>C
|
|
|
|
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>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+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.3082-10del
|
rs772995677
|
|
|
NM_003072.5(SMARCA4):c.3082-13A>G
|
rs757235327
|
|
|
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.3082-6T>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.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.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.3147C>T (p.Pro1049=)
|
rs2090184445
|
|
|
NM_003072.5(SMARCA4):c.3149A>T (p.Tyr1050Phe)
|
rs2090184575
|
|
|
NM_003072.5(SMARCA4):c.3151A>G (p.Met1051Val)
|
rs2146498393
|
|
|
NM_003072.5(SMARCA4):c.3151A>T (p.Met1051Leu)
|
|
|
|
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+15G>T
|
rs757779375
|
|
|
NM_003072.5(SMARCA4):c.3168+20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3168+3G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3168+6C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3168+8C>A
|
rs200658539
|
|
|
NM_003072.5(SMARCA4):c.3168+9G>T
|
rs369201773
|
|
|
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.3169-4G>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.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.3205A>G (p.Ile1069Val)
|
rs1555781098
|
|
|
NM_003072.5(SMARCA4):c.3207T>C (p.Ile1069=)
|
rs1772736536
|
|
|
NM_003072.5(SMARCA4):c.320G>T (p.Gly107Val)
|
|
|
|
NM_003072.5(SMARCA4):c.3210C>T (p.Val1070=)
|
rs955571639
|
|
|
NM_003072.5(SMARCA4):c.3211dup (p.Gln1071fs)
|
rs2146516794
|
|
|
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+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>T
|
rs762320861
|
|
|
NM_003072.5(SMARCA4):c.3215+18T>C
|
|
|
|
NM_003072.5(SMARCA4):c.3215+20G>C
|
|
|
|
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.3216-17C>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>T
|
rs1568498107
|
|
|
NM_003072.5(SMARCA4):c.3216-346C>T
|
|
|
|
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.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.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.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>T (p.Asn1096=)
|
rs760295801
|
|
|
NM_003072.5(SMARCA4):c.328C>T (p.Pro110Ser)
|
rs2145752088
|
|
|
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>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.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+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+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>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.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.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.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.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>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.3533G>A (p.Trp1178Ter)
|
rs587777460
|
|
|
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
|
|
|
|
NM_003072.5(SMARCA4):c.3546+16G>A
|
rs587777972
|
|
|
NM_003072.5(SMARCA4):c.3546+17C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3546+18C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3546+19C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3546+19C>T
|
rs757553186
|
|
|
NM_003072.5(SMARCA4):c.3546+1G>A
|
rs2146603666
|
|
|
NM_003072.5(SMARCA4):c.3546+20C>G
|
|
|
|
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
|
|
|
|
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.3547-7C>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>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.356-17C>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.356-8C>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>T (p.Ala1190=)
|
rs1060504455
|
|
|
NM_003072.5(SMARCA4):c.3573C>T (p.His1191=)
|
rs2075057826
|
|
|
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.3594G>A (p.Glu1198=)
|
rs913401320
|
|
|
NM_003072.5(SMARCA4):c.3597G>A (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>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.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.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.374G>A (p.Gly125Asp)
|
rs757566936
|
|
|
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+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>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.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.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.3874-12G>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.3874-7C>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.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.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.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.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+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.3952-12C>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.3952-6C>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.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.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.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.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.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.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.4171-15C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4171-15C>T
|
|
|
|
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.4171-1853G>T
|
|
|
|
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.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.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.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.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.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.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.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.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.4322A>G (p.Lys1441Arg)
|
rs1555788304
|
|
|
NM_003072.5(SMARCA4):c.4324A>C (p.Lys1442Gln)
|
|
|
|
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.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.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.435G>A (p.Met145Ile)
|
rs766377662
|
|
|
NM_003072.5(SMARCA4):c.4362C>T (p.Asn1454=)
|
rs530717926
|
|
|
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.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>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>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+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.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.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.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.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>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+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+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.4534-17C>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.4534-8C>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>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.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>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.4636-3C>A
|
rs1555795859
|
|
|
NM_003072.5(SMARCA4):c.4636-3C>T
|
rs1555795859
|
|
|
NM_003072.5(SMARCA4):c.4636-3dup
|
rs1555795854
|
|
|
NM_003072.5(SMARCA4):c.4636-5C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4636-6G>C
|
|
|
|
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.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.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.4719G>C (p.Glu1573Asp)
|
rs1306229985
|
|
|
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.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.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+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.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.4825C>A (p.Leu1609Met)
|
rs878854232
|
|
|
NM_003072.5(SMARCA4):c.4825C>T (p.Leu1609=)
|
rs878854232
|
|
|
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>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.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>T (p.Ser1631Cys)
|
rs1600649575
|
|
|
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>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.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.496A>G (p.Asn166Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.499C>A (p.Arg167=)
|
rs11537673
|
|
|
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.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.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.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.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.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.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.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>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.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>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.610G>A (p.Val204Met)
|
rs1599951334
|
|
|
NM_003072.5(SMARCA4):c.613C>G (p.Gln205Glu)
|
|
|
|
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.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_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.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.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.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.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.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>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.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+18G>T
|
|
|
|
NM_003072.5(SMARCA4):c.760+20C>A
|
|
|
|
NM_003072.5(SMARCA4):c.760+4A>G
|
rs1213865421
|
|
|
NM_003072.5(SMARCA4):c.760+7C>T
|
|
|
|
NM_003072.5(SMARCA4):c.760+8T>C
|
|
|
|
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.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.782C>A (p.Pro261His)
|
rs757327891
|
|
|
NM_003072.5(SMARCA4):c.782C>T (p.Pro261Leu)
|
rs757327891
|
|
|
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.812G>A (p.Gly271Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.812G>C (p.Gly271Ala)
|
|
|
|
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.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+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>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.883C>G (p.Pro295Ala)
|
rs970190031
|
|
|
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>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.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.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.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.933T>A (p.Pro311=)
|
rs1599967587
|
|
|
NM_003072.5(SMARCA4):c.933T>C (p.Pro311=)
|
rs1599967587
|
|
|
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.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>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>G (p.Ser332=)
|
rs2145818726
|
|
|
NM_003072.5(SMARCA4):c.997C>T (p.Pro333Ser)
|
rs1599969686
|
|
|
NM_003072.5(SMARCA4):c.99T>G (p.Gly33=)
|
|
|
|
NM_003073.5(SMARCB1):c.351dup (p.Thr118fs)
|
rs1555876140
|
|
|
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.1005C>A (p.Asp335Glu)
|
|
|
|
NM_003079.5(SMARCE1):c.1008G>C (p.Glu336Asp)
|
rs1323477202
|
|
|
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)
|
rs2037085057
|
|
|
NM_003079.5(SMARCE1):c.1018A>G (p.Met340Val)
|
|
|
|
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
|
|
|
|
NM_003079.5(SMARCE1):c.1020G>T (p.Met340Ile)
|
|
|
|
NM_003079.5(SMARCE1):c.1023G>C (p.Glu341Asp)
|
|
|
|
NM_003079.5(SMARCE1):c.1025C>G (p.Thr342Arg)
|
rs367908836
|
|
|
NM_003079.5(SMARCE1):c.1027+13C>G
|
|
|
|
NM_003079.5(SMARCE1):c.1027+16C>G
|
rs779439710
|
|
|
NM_003079.5(SMARCE1):c.1027+19A>G
|
|
|
|
NM_003079.5(SMARCE1):c.1027+6C>A
|
|
|
|
NM_003079.5(SMARCE1):c.1027+6C>G
|
rs1245988748
|
|
|
NM_003079.5(SMARCE1):c.1027+8A>G
|
|
|
|
NM_003079.5(SMARCE1):c.1028-10G>T
|
rs2037063345
|
|
|
NM_003079.5(SMARCE1):c.1028-12G>A
|
|
|
|
NM_003079.5(SMARCE1):c.1028-20T>A
|
|
|
|
NM_003079.5(SMARCE1):c.1028A>C (p.Glu343Ala)
|
|
|
|
NM_003079.5(SMARCE1):c.102C>G (p.Leu34=)
|
rs1567848949
|
|
|
NM_003079.5(SMARCE1):c.1030G>A (p.Glu344Lys)
|
rs1413261743
|
|
|
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro)
|
rs1597741316
|
|
|
NM_003079.5(SMARCE1):c.1033A>G (p.Thr345Ala)
|
rs1597741316
|
|
|
NM_003079.5(SMARCE1):c.1034C>G (p.Thr345Arg)
|
rs1597741310
|
|
|
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn)
|
rs751700497
|
|
|
NM_003079.5(SMARCE1):c.1037A>G (p.His346Arg)
|
|
|
|
NM_003079.5(SMARCE1):c.1038C>G (p.His346Gln)
|
rs1597741306
|
|
|
NM_003079.5(SMARCE1):c.1041T>G (p.Leu347=)
|
|
|
|
NM_003079.5(SMARCE1):c.1043A>G (p.Glu348Gly)
|
rs2037063064
|
|
|
NM_003079.5(SMARCE1):c.1049C>G (p.Thr350Arg)
|
|
|
|
NM_003079.5(SMARCE1):c.1050A>C (p.Thr350=)
|
rs2143980877
|
|
|
NM_003079.5(SMARCE1):c.1052C>G (p.Thr351Arg)
|
rs932391748
|
|
|
NM_003079.5(SMARCE1):c.1053_1054delinsTA (p.Glu352Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.1054G>A (p.Glu352Lys)
|
rs2143980865
|
|
|
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
|
|
|
|
NM_003079.5(SMARCE1):c.1057A>C (p.Ser353Arg)
|
rs2037062951
|
|
|
NM_003079.5(SMARCE1):c.1057A>G (p.Ser353Gly)
|
rs2037062951
|
|
|
NM_003079.5(SMARCE1):c.1057_1058del (p.Ser353fs)
|
|
|
|
NM_003079.5(SMARCE1):c.1058G>A (p.Ser353Asn)
|
rs2143980847
|
|
|
NM_003079.5(SMARCE1):c.1061A>G (p.Gln354Arg)
|
|
|
|
NM_003079.5(SMARCE1):c.1062A>G (p.Gln354=)
|
rs2143980837
|
|
|
NM_003079.5(SMARCE1):c.1064A>G (p.Gln355Arg)
|
rs1567844710
|
|
|
NM_003079.5(SMARCE1):c.1065G>A (p.Gln355=)
|
rs2143980829
|
|
|
NM_003079.5(SMARCE1):c.1066_1067insGTTCTTCACAACAGA (p.Gln355_Asn356insSerSerSerGlnGln)
|
rs2143980822
|
|
|
NM_003079.5(SMARCE1):c.1068T>C (p.Asn356=)
|
rs1597741295
|
|
|
NM_003079.5(SMARCE1):c.1068_1076dup (p.Glu358_Glu359insAspGlyGlu)
|
|
|
|
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)
|
rs2143980805
|
|
|
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del)
|
rs765354113
|
|
|
NM_003079.5(SMARCE1):c.1074A>G (p.Glu358=)
|
rs2143980796
|
|
|
NM_003079.5(SMARCE1):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
|
|
|
|
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg)
|
rs976928947
|
|
|
NM_003079.5(SMARCE1):c.107A>G (p.Tyr36Cys)
|
|
|
|
NM_003079.5(SMARCE1):c.1080C>T (p.Gly360=)
|
rs2143980767
|
|
|
NM_003079.5(SMARCE1):c.1081A>G (p.Thr361Ala)
|
rs2143980763
|
|
|
NM_003079.5(SMARCE1):c.1084T>C (p.Ser362Pro)
|
rs750183985
|
|
|
NM_003079.5(SMARCE1):c.1086_1087delinsAT (p.Thr363Ser)
|
rs2037062544
|
|
|
NM_003079.5(SMARCE1):c.1087A>G (p.Thr363Ala)
|
rs1555605096
|
|
|
NM_003079.5(SMARCE1):c.1088C>G (p.Thr363Ser)
|
rs1247688181
|
|
|
NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)
|
|
|
|
NM_003079.5(SMARCE1):c.1090C>G (p.Pro364Ala)
|
rs1205865722
|
|
|
NM_003079.5(SMARCE1):c.1090_1092del (p.Pro364del)
|
rs1555605093
|
|
|
NM_003079.5(SMARCE1):c.1092T>G (p.Pro364=)
|
rs2143980702
|
|
|
NM_003079.5(SMARCE1):c.1095G>A (p.Glu365=)
|
|
|
|
NM_003079.5(SMARCE1):c.1102G>T (p.Glu368Ter)
|
rs2037062233
|
|
|
NM_003079.5(SMARCE1):c.1103A>G (p.Glu368Gly)
|
rs1555605086
|
|
|
NM_003079.5(SMARCE1):c.1104G>C (p.Glu368Asp)
|
rs2037062159
|
|
|
NM_003079.5(SMARCE1):c.1106G>C (p.Ser369Thr)
|
|
|
|
NM_003079.5(SMARCE1):c.1108G>A (p.Gly370Arg)
|
rs2143980642
|
|
|
NM_003079.5(SMARCE1):c.1109G>A (p.Gly370Glu)
|
rs2037062100
|
|
|
NM_003079.5(SMARCE1):c.1109G>T (p.Gly370Val)
|
rs2037062100
|
|
|
NM_003079.5(SMARCE1):c.110A>G (p.Asn37Ser)
|
rs1597749763
|
|
|
NM_003079.5(SMARCE1):c.1115A>C (p.Glu372Ala)
|
rs2037061989
|
|
|
NM_003079.5(SMARCE1):c.1115A>G (p.Glu372Gly)
|
|
|
|
NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg)
|
rs2037061907
|
|
|
NM_003079.5(SMARCE1):c.111C>T (p.Asn37=)
|
rs2144009134
|
|
|
NM_003079.5(SMARCE1):c.1120G>C (p.Val374Leu)
|
rs1165295357
|
|
|
NM_003079.5(SMARCE1):c.1120del (p.Val374fs)
|
|
|
|
NM_003079.5(SMARCE1):c.1121T>C (p.Val374Ala)
|
rs1597741256
|
|
|
NM_003079.5(SMARCE1):c.1122C>G (p.Val374=)
|
rs144057094
|
|
|
NM_003079.5(SMARCE1):c.1126A>C (p.Ser376Arg)
|
rs2037061648
|
|
|
NM_003079.5(SMARCE1):c.1126A>G (p.Ser376Gly)
|
rs2037061648
|
|
|
NM_003079.5(SMARCE1):c.1130T>C (p.Met377Thr)
|
|
|
|
NM_003079.5(SMARCE1):c.113A>G (p.Asn38Ser)
|
rs915901827
|
|
|
NM_003079.5(SMARCE1):c.1142G>A (p.Gly381Glu)
|
|
|
|
NM_003079.5(SMARCE1):c.1143A>C (p.Gly381=)
|
rs1555605081
|
|
|
NM_003079.5(SMARCE1):c.1144A>G (p.Thr382Ala)
|
rs1597741239
|
|
|
NM_003079.5(SMARCE1):c.1145C>G (p.Thr382Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.1146C>T (p.Thr382=)
|
rs2143980469
|
|
|
NM_003079.5(SMARCE1):c.1147A>C (p.Ser383Arg)
|
|
|
|
NM_003079.5(SMARCE1):c.1147A>G (p.Ser383Gly)
|
rs1322064785
|
|
|
NM_003079.5(SMARCE1):c.1148G>C (p.Ser383Thr)
|
|
|
|
NM_003079.5(SMARCE1):c.1155T>G (p.Ser385Arg)
|
rs1597741226
|
|
|
NM_003079.5(SMARCE1):c.1156A>G (p.Asn386Asp)
|
rs1555605077
|
|
|
NM_003079.5(SMARCE1):c.1158C>T (p.Asn386=)
|
rs1597741219
|
|
|
NM_003079.5(SMARCE1):c.1163G>A (p.Gly388Asp)
|
|
|
|
NM_003079.5(SMARCE1):c.1164C>A (p.Gly388=)
|
|
|
|
NM_003079.5(SMARCE1):c.1164C>T (p.Gly388=)
|
rs573977743
|
|
|
NM_003079.5(SMARCE1):c.1166C>G (p.Ser389Trp)
|
rs376181802
|
|
|
NM_003079.5(SMARCE1):c.116A>G (p.Tyr39Cys)
|
|
|
|
NM_003079.5(SMARCE1):c.1170G>T (p.Glu390Asp)
|
rs2037060934
|
|
|
NM_003079.5(SMARCE1):c.1171A>G (p.Ser391Gly)
|
rs2143980380
|
|
|
NM_003079.5(SMARCE1):c.1172G>A (p.Ser391Asn)
|
rs1298633600
|
|
|
NM_003079.5(SMARCE1):c.1172G>C (p.Ser391Thr)
|
rs1298633600
|
|
|
NM_003079.5(SMARCE1):c.1174A>G (p.Asn392Asp)
|
rs2037060809
|
|
|
NM_003079.5(SMARCE1):c.1175A>G (p.Asn392Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly)
|
rs775907713
|
|
|
NM_003079.5(SMARCE1):c.1179T>C (p.Ser393=)
|
|
|
|
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr)
|
rs1597741198
|
|
|
NM_003079.5(SMARCE1):c.1186G>C (p.Val396Leu)
|
rs767236696
|
|
|
NM_003079.5(SMARCE1):c.1195C>G (p.Pro399Ala)
|
rs2037060453
|
|
|
NM_003079.5(SMARCE1):c.1196C>T (p.Pro399Leu)
|
rs1397941319
|
|
|
NM_003079.5(SMARCE1):c.1198C>G (p.Pro400Ala)
|
rs2143980289
|
|
|
NM_003079.5(SMARCE1):c.1198C>T (p.Pro400Ser)
|
rs2143980289
|
|
|
NM_003079.5(SMARCE1):c.119G>A (p.Arg40Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.1200A>G (p.Pro400=)
|
rs2143980284
|
|
|
NM_003079.5(SMARCE1):c.1202C>T (p.Thr401Ile)
|
rs2037060386
|
|
|
NM_003079.5(SMARCE1):c.120G>T (p.Arg40Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.1211T>A (p.Ile404Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.1212A>G (p.Ile404Met)
|
rs1060501396
|
|
|
NM_003079.5(SMARCE1):c.1213C>T (p.Pro405Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.1217A>C (p.Glu406Ala)
|
rs2037060002
|
|
|
NM_003079.5(SMARCE1):c.1219G>A (p.Asp407Asn)
|
rs139178605
|
|
|
NM_003079.5(SMARCE1):c.1219G>T (p.Asp407Tyr)
|
|
|
|
NM_003079.5(SMARCE1):c.121C>T (p.Leu41=)
|
|
|
|
NM_003079.5(SMARCE1):c.1220A>T (p.Asp407Val)
|
|
|
|
NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys)
|
rs1487515718
|
|
|
NM_003079.5(SMARCE1):c.1226A>T (p.Lys409Ile)
|
|
|
|
NM_003079.5(SMARCE1):c.1227A>G (p.Lys409=)
|
rs1486670960
|
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|
NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys)
|
rs62622817
|
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|
NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=)
|
rs1555605056
|
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|
NM_003079.5(SMARCE1):c.1234_1235insTTT (p.*412Pheext*1)
|
rs2143980165
|
|
|
NM_003079.5(SMARCE1):c.1236A>G (p.Ter412=)
|
rs2143980159
|
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|
NM_003079.5(SMARCE1):c.123G>T (p.Leu41=)
|
rs2144009122
|
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|
NM_003079.5(SMARCE1):c.131A>C (p.Asn44Thr)
|
rs761846539
|
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|
NM_003079.5(SMARCE1):c.132C>G (p.Asn44Lys)
|
rs570462841
|
|
|
NM_003079.5(SMARCE1):c.132C>T (p.Asn44=)
|
|
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|
NM_003079.5(SMARCE1):c.133C>G (p.Pro45Ala)
|
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|
NM_003079.5(SMARCE1):c.133C>T (p.Pro45Ser)
|
rs1597749741
|
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|
NM_003079.5(SMARCE1):c.134C>T (p.Pro45Leu)
|
rs1249552995
|
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|
NM_003079.5(SMARCE1):c.137G>A (p.Gly46Asp)
|
rs2037209184
|
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|
NM_003079.5(SMARCE1):c.138C>T (p.Gly46=)
|
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|
NM_003079.5(SMARCE1):c.147C>T (p.Ser49=)
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|
NM_003079.5(SMARCE1):c.148C>A (p.Arg50=)
|
rs2037209097
|
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|
NM_003079.5(SMARCE1):c.148C>G (p.Arg50Gly)
|
rs2037209097
|
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NM_003079.5(SMARCE1):c.149G>A (p.Arg50Gln)
|
rs1060501394
|
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NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
|
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|
NM_003079.5(SMARCE1):c.152T>G (p.Val51Gly)
|
rs1597749716
|
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|
NM_003079.5(SMARCE1):c.155C>T (p.Thr52Met)
|
rs909376128
|
|
|
NM_003079.5(SMARCE1):c.156+10T>G
|
rs2037208869
|
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NM_003079.5(SMARCE1):c.156+15T>C
|
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NM_003079.5(SMARCE1):c.156+16A>G
|
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NM_003079.5(SMARCE1):c.156+4G>A
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NM_003079.5(SMARCE1):c.156+6A>G
|
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NM_003079.5(SMARCE1):c.156+9A>G
|
rs2144009011
|
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NM_003079.5(SMARCE1):c.157-11C>T
|
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NM_003079.5(SMARCE1):c.157-19G>A
|
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NM_003079.5(SMARCE1):c.157-20T>G
|
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NM_003079.5(SMARCE1):c.157-4G>T
|
rs141832779
|
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NM_003079.5(SMARCE1):c.157-6del
|
rs2037158901
|
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|
NM_003079.5(SMARCE1):c.165T>C (p.Ser55=)
|
rs2143999615
|
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|
NM_003079.5(SMARCE1):c.166G>A (p.Gly56Ser)
|
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|
NM_003079.5(SMARCE1):c.169A>T (p.Ile57Phe)
|
rs2143999604
|
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NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe)
|
rs2143999589
|
|
|
NM_003079.5(SMARCE1):c.1dup (p.Met1fs)
|
rs2144015619
|
|
|
NM_003079.5(SMARCE1):c.204G>A (p.Lys68=)
|
rs1555605896
|
|
|
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)
|
rs387906857
|
|
|
NM_003079.5(SMARCE1):c.225G>A (p.Arg75=)
|
rs2143999523
|
|
|
NM_003079.5(SMARCE1):c.228C>T (p.Tyr76=)
|
rs2143999516
|
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|
NM_003079.5(SMARCE1):c.22G>A (p.Ala8Thr)
|
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|
NM_003079.5(SMARCE1):c.234A>G (p.Arg78=)
|
rs2143999505
|
|
|
NM_003079.5(SMARCE1):c.237+2T>C
|
rs397509406
|
|
|
NM_003079.5(SMARCE1):c.237+3A>G
|
rs2143999496
|
|
|
NM_003079.5(SMARCE1):c.237+4G>A
|
rs2037158242
|
|
|
NM_003079.5(SMARCE1):c.237+8C>T
|
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NM_003079.5(SMARCE1):c.237+9T>G
|
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NM_003079.5(SMARCE1):c.237G>A (p.Lys79=)
|
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|
NM_003079.5(SMARCE1):c.238-11T>C
|
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|
NM_003079.5(SMARCE1):c.238-16C>G
|
|
|
|
NM_003079.5(SMARCE1):c.238-18A>T
|
rs2143997501
|
|
|
NM_003079.5(SMARCE1):c.238-3A>G
|
|
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|
NM_003079.5(SMARCE1):c.238-4dup
|
|
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|
NM_003079.5(SMARCE1):c.248A>G (p.Gln83Arg)
|
rs2037147392
|
|
|
NM_003079.5(SMARCE1):c.249A>G (p.Gln83=)
|
|
|
|
NM_003079.5(SMARCE1):c.263A>G (p.Asn88Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.268G>A (p.Asp90Asn)
|
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|
NM_003079.5(SMARCE1):c.271C>T (p.Leu91=)
|
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|
NM_003079.5(SMARCE1):c.273A>G (p.Leu91=)
|
|
|
|
NM_003079.5(SMARCE1):c.279G>A (p.Leu93=)
|
rs2037147129
|
|
|
NM_003079.5(SMARCE1):c.279G>T (p.Leu93Phe)
|
rs2037147129
|
|
|
NM_003079.5(SMARCE1):c.285G>A (p.Glu95=)
|
|
|
|
NM_003079.5(SMARCE1):c.28C>T (p.Pro10Ser)
|
rs1413469817
|
|
|
NM_003079.5(SMARCE1):c.291C>T (p.Gly97=)
|
|
|
|
NM_003079.5(SMARCE1):c.298A>T (p.Ile100Phe)
|
|
|
|
NM_003079.5(SMARCE1):c.301G>A (p.Gly101Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.302G>A (p.Gly101Asp)
|
rs2037147008
|
|
|
NM_003079.5(SMARCE1):c.311G>A (p.Trp104Ter)
|
rs397509407
|
|
|
NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter)
|
rs1060501395
|
|
|
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln)
|
rs2037146907
|
|
|
NM_003079.5(SMARCE1):c.324T>C (p.Thr108=)
|
rs1597746306
|
|
|
NM_003079.5(SMARCE1):c.326A>G (p.Asp109Gly)
|
rs2143997323
|
|
|
NM_003079.5(SMARCE1):c.328G>A (p.Glu110Lys)
|
rs2143997316
|
|
|
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter)
|
rs2143997316
|
|
|
NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp)
|
rs372964610
|
|
|
NM_003079.5(SMARCE1):c.331G>C (p.Glu111Gln)
|
rs878854601
|
|
|
NM_003079.5(SMARCE1):c.332A>G (p.Glu111Gly)
|
rs2037146794
|
|
|
NM_003079.5(SMARCE1):c.333A>G (p.Glu111=)
|
|
|
|
NM_003079.5(SMARCE1):c.337C>A (p.Gln113Lys)
|
rs2143997301
|
|
|
NM_003079.5(SMARCE1):c.340G>T (p.Glu114Ter)
|
rs2037146773
|
|
|
NM_003079.5(SMARCE1):c.342A>G (p.Glu114=)
|
rs2143997291
|
|
|
NM_003079.5(SMARCE1):c.346T>G (p.Leu116Val)
|
|
|
|
NM_003079.5(SMARCE1):c.348A>G (p.Leu116=)
|
rs2143997279
|
|
|
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro)
|
rs2037247946
|
|
|
NM_003079.5(SMARCE1):c.352G>A (p.Glu118Lys)
|
rs1131691457
|
|
|
NM_003079.5(SMARCE1):c.365A>G (p.Glu122Gly)
|
|
|
|
NM_003079.5(SMARCE1):c.366A>G (p.Glu122=)
|
rs2143997250
|
|
|
NM_003079.5(SMARCE1):c.369+10G>A
|
rs199790447
|
|
|
NM_003079.5(SMARCE1):c.369+13C>T
|
|
|
|
NM_003079.5(SMARCE1):c.369+15C>T
|
rs747316377
|
|
|
NM_003079.5(SMARCE1):c.369+17C>T
|
rs2143997153
|
|
|
NM_003079.5(SMARCE1):c.369+1G>A
|
rs2037146593
|
|
|
NM_003079.5(SMARCE1):c.369+1G>T
|
rs2037146593
|
|
|
NM_003079.5(SMARCE1):c.369+2_369+5del
|
rs2143997220
|
|
|
NM_003079.5(SMARCE1):c.369+4G>A
|
rs1597746280
|
|
|
NM_003079.5(SMARCE1):c.369+4G>C
|
rs1597746280
|
|
|
NM_003079.5(SMARCE1):c.369+5G>A
|
rs2037146547
|
|
|
NM_003079.5(SMARCE1):c.369+6G>A
|
rs200391280
|
|
|
NM_003079.5(SMARCE1):c.369+8A>G
|
rs2143997205
|
|
|
NM_003079.5(SMARCE1):c.369+9G>T
|
rs2143997200
|
|
|
NM_003079.5(SMARCE1):c.36C>T (p.Thr12=)
|
|
|
|
NM_003079.5(SMARCE1):c.370-10T>C
|
rs763801620
|
|
|
NM_003079.5(SMARCE1):c.370-12T>C
|
|
|
|
NM_003079.5(SMARCE1):c.370-13A>G
|
|
|
|
NM_003079.5(SMARCE1):c.370-14del
|
rs1272403496
|
|
|
NM_003079.5(SMARCE1):c.370-15A>T
|
|
|
|
NM_003079.5(SMARCE1):c.370-6T>C
|
rs1060501397
|
|
|
NM_003079.5(SMARCE1):c.370-9G>T
|
rs2143996600
|
|
|
NM_003079.5(SMARCE1):c.370A>G (p.Ile124Val)
|
|
|
|
NM_003079.5(SMARCE1):c.373G>C (p.Glu125Gln)
|
rs762580699
|
|
|
NM_003079.5(SMARCE1):c.376T>G (p.Tyr126Asp)
|
|
|
|
NM_003079.5(SMARCE1):c.37C>T (p.Pro13Ser)
|
rs1398882535
|
|
|
NM_003079.5(SMARCE1):c.380A>G (p.Asn127Ser)
|
rs2143996566
|
|
|
NM_003079.5(SMARCE1):c.384A>G (p.Glu128=)
|
rs2143996550
|
|
|
NM_003079.5(SMARCE1):c.388A>G (p.Met130Val)
|
rs2143996528
|
|
|
NM_003079.5(SMARCE1):c.38C>T (p.Pro13Leu)
|
|
|
|
NM_003079.5(SMARCE1):c.394G>A (p.Ala132Thr)
|
|
|
|
NM_003079.5(SMARCE1):c.395C>T (p.Ala132Val)
|
|
|
|
NM_003079.5(SMARCE1):c.396C>T (p.Ala132=)
|
|
|
|
NM_003079.5(SMARCE1):c.398A>G (p.Tyr133Cys)
|
rs2143996507
|
|
|
NM_003079.5(SMARCE1):c.402T>C (p.His134=)
|
rs1597746120
|
|
|
NM_003079.5(SMARCE1):c.409C>T (p.Pro137Ser)
|
rs2143996465
|
|
|
NM_003079.5(SMARCE1):c.40G>A (p.Ala14Thr)
|
|
|
|
NM_003079.5(SMARCE1):c.413C>T (p.Ala138Val)
|
|
|
|
NM_003079.5(SMARCE1):c.414G>A (p.Ala138=)
|
rs555651762
|
|
|
NM_003079.5(SMARCE1):c.414G>T (p.Ala138=)
|
rs555651762
|
|
|
NM_003079.5(SMARCE1):c.421G>A (p.Ala141Thr)
|
rs2037143160
|
|
|
NM_003079.5(SMARCE1):c.423T>C (p.Ala141=)
|
rs2143996401
|
|
|
NM_003079.5(SMARCE1):c.423T>G (p.Ala141=)
|
|
|
|
NM_003079.5(SMARCE1):c.425A>T (p.Tyr142Phe)
|
rs1567847087
|
|
|
NM_003079.5(SMARCE1):c.427A>G (p.Ile143Val)
|
rs772432672
|
|
|
NM_003079.5(SMARCE1):c.435A>C (p.Ala145=)
|
|
|
|
NM_003079.5(SMARCE1):c.439del (p.Ser147fs)
|
|
|
|
NM_003079.5(SMARCE1):c.442C>T (p.Arg148Cys)
|
rs147065057
|
|
|
NM_003079.5(SMARCE1):c.444T>G (p.Arg148=)
|
rs2143996339
|
|
|
NM_003079.5(SMARCE1):c.446C>T (p.Ala149Val)
|
rs2037142942
|
|
|
NM_003079.5(SMARCE1):c.450A>G (p.Glu150=)
|
rs2143996312
|
|
|
NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs)
|
rs1555605750
|
|
|
NM_003079.5(SMARCE1):c.462G>C (p.Glu154Asp)
|
rs2143996251
|
|
|
NM_003079.5(SMARCE1):c.465A>G (p.Glu155=)
|
rs2143996244
|
|
|
NM_003079.5(SMARCE1):c.467A>G (p.Glu156Gly)
|
|
|
|
NM_003079.5(SMARCE1):c.472C>T (p.Arg158Ter)
|
rs1251821702
|
|
|
NM_003079.5(SMARCE1):c.473G>T (p.Arg158Leu)
|
|
|
|
NM_003079.5(SMARCE1):c.477G>A (p.Gln159=)
|
rs1597746072
|
|
|
NM_003079.5(SMARCE1):c.482A>G (p.Gln161Arg)
|
rs1555605748
|
|
|
NM_003079.5(SMARCE1):c.483A>G (p.Gln161=)
|
rs1282104211
|
|
|
NM_003079.5(SMARCE1):c.484T>A (p.Ser162Thr)
|
rs878854602
|
|
|
NM_003079.5(SMARCE1):c.485C>T (p.Ser162Phe)
|
|
|
|
NM_003079.5(SMARCE1):c.486T>G (p.Ser162=)
|
rs1597746062
|
|
|
NM_003079.5(SMARCE1):c.489C>T (p.Arg163=)
|
rs2143996156
|
|
|
NM_003079.5(SMARCE1):c.493G>T (p.Glu165Ter)
|
rs2143996133
|
|
|
NM_003079.5(SMARCE1):c.495G>A (p.Glu165=)
|
|
|
|
NM_003079.5(SMARCE1):c.499G>A (p.Gly167Arg)
|
|
|
|
NM_003079.5(SMARCE1):c.501A>G (p.Gly167=)
|
rs759123413
|
|
|
NM_003079.5(SMARCE1):c.503A>T (p.Glu168Val)
|
|
|
|
NM_003079.5(SMARCE1):c.506del (p.Pro169fs)
|
|
|
|
NM_003079.5(SMARCE1):c.509A>G (p.Tyr170Cys)
|
rs1555605744
|
|
|
NM_003079.5(SMARCE1):c.51+10A>C
|
rs898142232
|
|
|
NM_003079.5(SMARCE1):c.51+19G>A
|
rs1597751980
|
|
|
NM_003079.5(SMARCE1):c.511A>G (p.Met171Val)
|
rs2037142335
|
|
|
NM_003079.5(SMARCE1):c.52-20G>T
|
|
|
|
NM_003079.5(SMARCE1):c.52-3C>T
|
|
|
|
NM_003079.5(SMARCE1):c.52-5A>G
|
rs2037210067
|
|
|
NM_003079.5(SMARCE1):c.521A>G (p.Gln174Arg)
|
rs2143996031
|
|
|
NM_003079.5(SMARCE1):c.522G>C (p.Gln174His)
|
|
|
|
NM_003079.5(SMARCE1):c.523C>G (p.Pro175Ala)
|
rs2143996013
|
|
|
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=)
|
rs773720929
|
|
|
NM_003079.5(SMARCE1):c.525del (p.Ala176fs)
|
rs878854603
|
|
|
NM_003079.5(SMARCE1):c.527C>T (p.Ala176Val)
|
rs2143995982
|
|
|
NM_003079.5(SMARCE1):c.533A>T (p.Asp178Val)
|
rs2143995960
|
|
|
NM_003079.5(SMARCE1):c.536C>T (p.Pro179Leu)
|
rs1160889864
|
|
|
NM_003079.5(SMARCE1):c.539A>T (p.Asp180Val)
|
rs2037142009
|
|
|
NM_003079.5(SMARCE1):c.540T>C (p.Asp180=)
|
|
|
|
NM_003079.5(SMARCE1):c.541+10A>G
|
rs1240216513
|
|
|
NM_003079.5(SMARCE1):c.541+11A>G
|
|
|
|
NM_003079.5(SMARCE1):c.541+14_541+15insC
|
|
|
|
NM_003079.5(SMARCE1):c.541+14del
|
rs766497450
|
|
|
NM_003079.5(SMARCE1):c.541+17G>A
|
|
|
|
NM_003079.5(SMARCE1):c.541+18G>C
|
rs1192376700
|
|
|
NM_003079.5(SMARCE1):c.541+1G>A
|
rs1597746020
|
|
|
NM_003079.5(SMARCE1):c.541+3A>G
|
rs1555605737
|
|
|
NM_003079.5(SMARCE1):c.541+5A>G
|
|
|
|
NM_003079.5(SMARCE1):c.541+7G>T
|
|
|
|
NM_003079.5(SMARCE1):c.541+8A>C
|
|
|
|
NM_003079.5(SMARCE1):c.541+8A>G
|
rs1478738793
|
|
|
NM_003079.5(SMARCE1):c.541+9A>C
|
rs2143995891
|
|
|
NM_003079.5(SMARCE1):c.542-13T>G
|
|
|
|
NM_003079.5(SMARCE1):c.542-15A>C
|
|
|
|
NM_003079.5(SMARCE1):c.542-16A>G
|
rs2143988665
|
|
|
NM_003079.5(SMARCE1):c.542-17C>G
|
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NM_003079.5(SMARCE1):c.542-2A>G
|
rs2143988635
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NM_003079.5(SMARCE1):c.542-4C>G
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NM_003079.5(SMARCE1):c.542-6C>T
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NM_003079.5(SMARCE1):c.542-7A>G
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NM_003079.5(SMARCE1):c.542-8C>G
|
rs2143988643
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NM_003079.5(SMARCE1):c.542-8C>T
|
rs2143988643
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|
NM_003079.5(SMARCE1):c.546T>C (p.Tyr182=)
|
rs1555605440
|
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NM_003079.5(SMARCE1):c.547G>A (p.Asp183Asn)
|
rs2037103551
|
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NM_003079.5(SMARCE1):c.552T>A (p.Asp184Glu)
|
rs1555605438
|
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NM_003079.5(SMARCE1):c.552T>C (p.Asp184=)
|
rs1555605438
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NM_003079.5(SMARCE1):c.554del (p.Gly185fs)
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NM_003079.5(SMARCE1):c.555C>T (p.Gly185=)
|
rs2143988592
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NM_003079.5(SMARCE1):c.561A>G (p.Ser187=)
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NM_003079.5(SMARCE1):c.562A>T (p.Met188Leu)
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NM_003079.5(SMARCE1):c.570T>C (p.His190=)
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NM_003079.5(SMARCE1):c.572C>T (p.Thr191Ile)
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NM_003079.5(SMARCE1):c.572dup (p.Ala192fs)
|
rs397509408
|
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NM_003079.5(SMARCE1):c.574G>A (p.Ala192Thr)
|
rs2143988542
|
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NM_003079.5(SMARCE1):c.578C>T (p.Thr193Ile)
|
rs1319163552
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NM_003079.5(SMARCE1):c.580G>T (p.Ala194Ser)
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NM_003079.5(SMARCE1):c.582C>G (p.Ala194=)
|
rs765736374
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NM_003079.5(SMARCE1):c.582C>T (p.Ala194=)
|
rs765736374
|
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NM_003079.5(SMARCE1):c.584G>A (p.Arg195His)
|
rs1303849808
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NM_003079.5(SMARCE1):c.585T>C (p.Arg195=)
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NM_003079.5(SMARCE1):c.585_586delinsA (p.Phe196fs)
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NM_003079.5(SMARCE1):c.587del (p.Phe196fs)
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NM_003079.5(SMARCE1):c.58C>T (p.Pro20Ser)
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NM_003079.5(SMARCE1):c.594A>G (p.Arg198=)
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NM_003079.5(SMARCE1):c.597C>T (p.Asn199=)
|
rs878854604
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NM_003079.5(SMARCE1):c.598C>T (p.His200Tyr)
|
rs2143988460
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NM_003079.5(SMARCE1):c.601C>T (p.Arg201Cys)
|
rs1567845807
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NM_003079.5(SMARCE1):c.602G>A (p.Arg201His)
|
rs761299232
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NM_003079.5(SMARCE1):c.605T>G (p.Leu202Arg)
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NM_003079.5(SMARCE1):c.607A>C (p.Ile203Leu)
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NM_003079.5(SMARCE1):c.611G>A (p.Ser204Asn)
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NM_003079.5(SMARCE1):c.618T>G (p.Ile206Met)
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NM_003079.5(SMARCE1):c.61A>G (p.Ser21Gly)
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NM_003079.5(SMARCE1):c.621T>A (p.Leu207=)
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NM_003079.5(SMARCE1):c.622A>C (p.Ser208Arg)
|
rs2143988407
|
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NM_003079.5(SMARCE1):c.624T>C (p.Ser208=)
|
rs1567845801
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NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs)
|
rs797045990
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NM_003079.5(SMARCE1):c.627G>C (p.Glu209Asp)
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NM_003079.5(SMARCE1):c.630T>C (p.Ser210=)
|
rs773810706
|
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NM_003079.5(SMARCE1):c.631G>T (p.Val211Leu)
|
rs2037102677
|
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NM_003079.5(SMARCE1):c.636G>A (p.Val212=)
|
rs2143988373
|
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NM_003079.5(SMARCE1):c.636G>T (p.Val212=)
|
rs2143988373
|
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NM_003079.5(SMARCE1):c.637C>T (p.Pro213Ser)
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NM_003079.5(SMARCE1):c.63C>T (p.Ser21=)
|
rs1597749796
|
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NM_003079.5(SMARCE1):c.640G>A (p.Asp214Asn)
|
rs2143988369
|
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NM_003079.5(SMARCE1):c.646C>T (p.Arg216Trp)
|
rs2143988352
|
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NM_003079.5(SMARCE1):c.648G>T (p.Arg216=)
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NM_003079.5(SMARCE1):c.657C>G (p.Val219=)
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NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
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NM_003079.5(SMARCE1):c.66A>G (p.Thr22=)
|
rs1597749794
|
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NM_003079.5(SMARCE1):c.66A>T (p.Thr22=)
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NM_003079.5(SMARCE1):c.673C>T (p.Gln225Ter)
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NM_003079.5(SMARCE1):c.683A>C (p.Lys228Thr)
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NM_003079.5(SMARCE1):c.683A>G (p.Lys228Arg)
|
rs2037102487
|
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NM_003079.5(SMARCE1):c.683_685delinsT (p.Lys228fs)
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NM_003079.5(SMARCE1):c.685C>A (p.Arg229=)
|
rs141619224
|
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NM_003079.5(SMARCE1):c.685C>T (p.Arg229Trp)
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NM_003079.5(SMARCE1):c.686G>A (p.Arg229Gln)
|
rs768981981
|
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NM_003079.5(SMARCE1):c.688C>T (p.Gln230Ter)
|
rs2143988272
|
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NM_003079.5(SMARCE1):c.694C>T (p.Gln232Ter)
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|
NM_003079.5(SMARCE1):c.69A>G (p.Pro23=)
|
rs766668916
|
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NM_003079.5(SMARCE1):c.7+10A>C
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NM_003079.5(SMARCE1):c.7+11dup
|
rs2144015604
|
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NM_003079.5(SMARCE1):c.7+12T>A
|
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NM_003079.5(SMARCE1):c.7+16T>C
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NM_003079.5(SMARCE1):c.7+17A>G
|
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NM_003079.5(SMARCE1):c.7+19A>G
|
rs2144015593
|
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NM_003079.5(SMARCE1):c.705G>T (p.Met235Ile)
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NM_003079.5(SMARCE1):c.706G>A (p.Val236Ile)
|
rs745924628
|
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NM_003079.5(SMARCE1):c.714+14A>G
|
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NM_003079.5(SMARCE1):c.714+15C>T
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NM_003079.5(SMARCE1):c.714+16A>G
|
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NM_003079.5(SMARCE1):c.714+17T>C
|
rs1321696308
|
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NM_003079.5(SMARCE1):c.714+19C>A
|
|
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NM_003079.5(SMARCE1):c.714+1G>A
|
rs2143988221
|
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NM_003079.5(SMARCE1):c.714+6G>A
|
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NM_003079.5(SMARCE1):c.714+9A>G
|
|
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NM_003079.5(SMARCE1):c.715-11C>T
|
rs746013361
|
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NM_003079.5(SMARCE1):c.715-11dup
|
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NM_003079.5(SMARCE1):c.715-12C>A
|
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NM_003079.5(SMARCE1):c.715-12C>G
|
rs769970957
|
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NM_003079.5(SMARCE1):c.715-12C>T
|
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NM_003079.5(SMARCE1):c.715-20A>G
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NM_003079.5(SMARCE1):c.715-3C>G
|
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NM_003079.5(SMARCE1):c.715-4G>A
|
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NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter)
|
rs397509405
|
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NM_003079.5(SMARCE1):c.726A>G (p.Glu242=)
|
|
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NM_003079.5(SMARCE1):c.729T>A (p.Ala243=)
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NM_003079.5(SMARCE1):c.734TTC[1] (p.Leu246del)
|
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NM_003079.5(SMARCE1):c.741A>G (p.Gln247=)
|
rs1356231337
|
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NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu)
|
rs2037096994
|
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NM_003079.5(SMARCE1):c.743T>C (p.Ile248Thr)
|
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|
NM_003079.5(SMARCE1):c.750A>C (p.Glu250Asp)
|
rs1555605350
|
|
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NM_003079.5(SMARCE1):c.750A>G (p.Glu250=)
|
rs1555605350
|
|
|
NM_003079.5(SMARCE1):c.751C>T (p.Arg251Ter)
|
rs1057518166
|
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NM_003079.5(SMARCE1):c.752G>A (p.Arg251Gln)
|
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|
NM_003079.5(SMARCE1):c.756C>T (p.His252=)
|
rs2143987018
|
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|
NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter)
|
rs1555605347
|
|
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NM_003079.5(SMARCE1):c.760_762del (p.Glu254del)
|
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NM_003079.5(SMARCE1):c.761AGA[2] (p.Lys256del)
|
rs769002311
|
|
|
NM_003079.5(SMARCE1):c.764A>G (p.Lys255Arg)
|
rs2037096715
|
|
|
NM_003079.5(SMARCE1):c.765G>A (p.Lys255=)
|
rs749090821
|
|
|
NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr)
|
rs542193901
|
|
|
NM_003079.5(SMARCE1):c.769A>C (p.Arg257=)
|
rs1597743097
|
|
|
NM_003079.5(SMARCE1):c.771G>C (p.Arg257Ser)
|
|
|
|
NM_003079.5(SMARCE1):c.774A>G (p.Lys258=)
|
|
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|
NM_003079.5(SMARCE1):c.783A>T (p.Glu261Asp)
|
rs2143986944
|
|
|
NM_003079.5(SMARCE1):c.786C>T (p.Ser262=)
|
rs2143986926
|
|
|
NM_003079.5(SMARCE1):c.788C>G (p.Thr263Arg)
|
rs2037096454
|
|
|
NM_003079.5(SMARCE1):c.790G>A (p.Asp264Asn)
|
rs1555605342
|
|
|
NM_003079.5(SMARCE1):c.791A>G (p.Asp264Gly)
|
|
|
|
NM_003079.5(SMARCE1):c.794C>T (p.Ser265Leu)
|
|
|
|
NM_003079.5(SMARCE1):c.796T>C (p.Phe266Leu)
|
rs2143986878
|
|
|
NM_003079.5(SMARCE1):c.8-3C>G
|
|
|
|
NM_003079.5(SMARCE1):c.802A>C (p.Asn268His)
|
rs963534528
|
|
|
NM_003079.5(SMARCE1):c.802A>G (p.Asn268Asp)
|
|
|
|
NM_003079.5(SMARCE1):c.803A>G (p.Asn268Ser)
|
rs2037096315
|
|
|
NM_003079.5(SMARCE1):c.804T>C (p.Asn268=)
|
|
|
|
NM_003079.5(SMARCE1):c.808del (p.Arg272fs)
|
rs2143986851
|
|
|
NM_003079.5(SMARCE1):c.810T>C (p.Leu270=)
|
|
|
|
NM_003079.5(SMARCE1):c.811A>G (p.Lys271Glu)
|
|
|
|
NM_003079.5(SMARCE1):c.814del (p.Arg272fs)
|
|
|
|
NM_003079.5(SMARCE1):c.815G>A (p.Arg272Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.816+12A>G
|
|
|
|
NM_003079.5(SMARCE1):c.816+14A>G
|
rs2143986770
|
|
|
NM_003079.5(SMARCE1):c.816+7G>A
|
rs2143986787
|
|
|
NM_003079.5(SMARCE1):c.816+8T>C
|
rs2143986777
|
|
|
NM_003079.5(SMARCE1):c.816G>T (p.Arg272Ser)
|
rs2037096217
|
|
|
NM_003079.5(SMARCE1):c.817-12T>G
|
|
|
|
NM_003079.5(SMARCE1):c.817-15T>G
|
|
|
|
NM_003079.5(SMARCE1):c.817-15dup
|
rs747318581
|
|
|
NM_003079.5(SMARCE1):c.817-16G>T
|
rs1042908466
|
|
|
NM_003079.5(SMARCE1):c.817-20T>A
|
rs2143985329
|
|
|
NM_003079.5(SMARCE1):c.817-2A>G
|
rs2143985266
|
|
|
NM_003079.5(SMARCE1):c.817-9T>C
|
rs749106268
|
|
|
NM_003079.5(SMARCE1):c.817-9del
|
|
|
|
NM_003079.5(SMARCE1):c.819G>A (p.Leu273=)
|
rs2143985259
|
|
|
NM_003079.5(SMARCE1):c.81A>G (p.Gly27=)
|
rs2144009232
|
|
|
NM_003079.5(SMARCE1):c.821G>A (p.Cys274Tyr)
|
rs1413987767
|
|
|
NM_003079.5(SMARCE1):c.824G>A (p.Gly275Asp)
|
rs1555605260
|
|
|
NM_003079.5(SMARCE1):c.827T>C (p.Leu276Pro)
|
|
|
|
NM_003079.5(SMARCE1):c.82T>C (p.Tyr28His)
|
rs2144009228
|
|
|
NM_003079.5(SMARCE1):c.831A>G (p.Lys277=)
|
rs780880269
|
|
|
NM_003079.5(SMARCE1):c.832G>A (p.Val278Ile)
|
rs2037087580
|
|
|
NM_003079.5(SMARCE1):c.833T>C (p.Val278Ala)
|
rs2143985196
|
|
|
NM_003079.5(SMARCE1):c.834A>G (p.Val278=)
|
rs1555605256
|
|
|
NM_003079.5(SMARCE1):c.843T>C (p.Asp281=)
|
rs1401541142
|
|
|
NM_003079.5(SMARCE1):c.844A>G (p.Met282Val)
|
rs1597742553
|
|
|
NM_003079.5(SMARCE1):c.847G>C (p.Glu283Gln)
|
|
|
|
NM_003079.5(SMARCE1):c.849G>T (p.Glu283Asp)
|
rs2143985157
|
|
|
NM_003079.5(SMARCE1):c.849del (p.Ile285fs)
|
rs2037087393
|
|
|
NM_003079.5(SMARCE1):c.84C>T (p.Tyr28=)
|
rs2144009223
|
|
|
NM_003079.5(SMARCE1):c.850A>G (p.Lys284Glu)
|
|
|
|
NM_003079.5(SMARCE1):c.853A>G (p.Ile285Val)
|
rs2143985147
|
|
|
NM_003079.5(SMARCE1):c.854T>C (p.Ile285Thr)
|
rs1597742548
|
|
|
NM_003079.5(SMARCE1):c.856G>A (p.Ala286Thr)
|
rs751048883
|
|
|
NM_003079.5(SMARCE1):c.860C>T (p.Ala287Val)
|
|
|
|
NM_003079.5(SMARCE1):c.861T>C (p.Ala287=)
|
rs2143985114
|
|
|
NM_003079.5(SMARCE1):c.862G>A (p.Glu288Lys)
|
rs2143985106
|
|
|
NM_003079.5(SMARCE1):c.867T>C (p.Ile289=)
|
rs2143985103
|
|
|
NM_003079.5(SMARCE1):c.869C>G (p.Ala290Gly)
|
rs758923998
|
|
|
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val)
|
rs758923998
|
|
|
NM_003079.5(SMARCE1):c.86A>G (p.Asn29Ser)
|
rs760888905
|
|
|
NM_003079.5(SMARCE1):c.871C>T (p.Gln291Ter)
|
rs2037087179
|
|
|
NM_003079.5(SMARCE1):c.874_877del (p.Ala292fs)
|
|
|
|
NM_003079.5(SMARCE1):c.875C>T (p.Ala292Val)
|
|
|
|
NM_003079.5(SMARCE1):c.880G>A (p.Glu294Lys)
|
rs2143985056
|
|
|
NM_003079.5(SMARCE1):c.882A>G (p.Glu294=)
|
rs753014603
|
|
|
NM_003079.5(SMARCE1):c.885G>T (p.Gln295His)
|
rs2037087059
|
|
|
NM_003079.5(SMARCE1):c.887C>G (p.Ala296Gly)
|
rs2037087035
|
|
|
NM_003079.5(SMARCE1):c.887C>T (p.Ala296Val)
|
|
|
|
NM_003079.5(SMARCE1):c.888C>G (p.Ala296=)
|
rs898665020
|
|
|
NM_003079.5(SMARCE1):c.889C>G (p.Arg297Gly)
|
rs562702157
|
|
|
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys)
|
rs562702157
|
|
|
NM_003079.5(SMARCE1):c.890G>A (p.Arg297His)
|
rs1172017371
|
|
|
NM_003079.5(SMARCE1):c.890G>T (p.Arg297Leu)
|
|
|
|
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg)
|
rs956654252
|
|
|
NM_003079.5(SMARCE1):c.896G>C (p.Arg299Thr)
|
rs1555605248
|
|
|
NM_003079.5(SMARCE1):c.896G>T (p.Arg299Met)
|
rs1555605248
|
|
|
NM_003079.5(SMARCE1):c.897G>A (p.Arg299=)
|
rs754006294
|
|
|
NM_003079.5(SMARCE1):c.899A>G (p.Gln300Arg)
|
rs766568737
|
|
|
NM_003079.5(SMARCE1):c.906A>C (p.Glu302Asp)
|
rs760713355
|
|
|
NM_003079.5(SMARCE1):c.909G>C (p.Arg303Ser)
|
rs2037086696
|
|
|
NM_003079.5(SMARCE1):c.90A>G (p.Pro30=)
|
rs750602675
|
|
|
NM_003079.5(SMARCE1):c.912G>A (p.Glu304=)
|
|
|
|
NM_003079.5(SMARCE1):c.913A>G (p.Lys305Glu)
|
rs2143984936
|
|
|
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del)
|
rs770456331
|
|
|
NM_003079.5(SMARCE1):c.914A>G (p.Lys305Arg)
|
|
|
|
NM_003079.5(SMARCE1):c.916G>A (p.Glu306Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.918G>A (p.Glu306=)
|
rs2143984915
|
|
|
NM_003079.5(SMARCE1):c.919G>A (p.Ala307Thr)
|
rs2037086571
|
|
|
NM_003079.5(SMARCE1):c.920C>T (p.Ala307Val)
|
|
|
|
NM_003079.5(SMARCE1):c.927G>A (p.Glu309=)
|
rs2143984870
|
|
|
NM_003079.5(SMARCE1):c.928C>G (p.Gln310Glu)
|
|
|
|
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs)
|
rs2144009190
|
|
|
NM_003079.5(SMARCE1):c.930_949dup (p.Ser317fs)
|
rs2037085970
|
|
|
NM_003079.5(SMARCE1):c.934G>A (p.Glu312Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.935A>G (p.Glu312Gly)
|
rs2037086336
|
|
|
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu)
|
rs201577008
|
|
|
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg)
|
rs1444576393
|
|
|
NM_003079.5(SMARCE1):c.945G>A (p.Gln315=)
|
rs1060504226
|
|
|
NM_003079.5(SMARCE1):c.94A>G (p.Ser32Gly)
|
rs1162139233
|
|
|
NM_003079.5(SMARCE1):c.955G>T (p.Val319Phe)
|
|
|
|
NM_003079.5(SMARCE1):c.958C>G (p.Pro320Ala)
|
|
|
|
NM_003079.5(SMARCE1):c.95G>A (p.Ser32Asn)
|
rs1597749777
|
|
|
NM_003079.5(SMARCE1):c.962A>T (p.Glu321Val)
|
|
|
|
NM_003079.5(SMARCE1):c.967G>A (p.Glu323Lys)
|
|
|
|
NM_003079.5(SMARCE1):c.96T>C (p.Ser32=)
|
rs2144009165
|
|
|
NM_003079.5(SMARCE1):c.971A>T (p.Gln324Leu)
|
rs1555605231
|
|
|
NM_003079.5(SMARCE1):c.975A>G (p.Ala325=)
|
|
|
|
NM_003079.5(SMARCE1):c.978T>C (p.Ala326=)
|
rs2143984672
|
|
|
NM_003079.5(SMARCE1):c.986_1000dup (p.Lys333_Asp334insGlyGluGluLysLys)
|
|
|
|
NM_003079.5(SMARCE1):c.988GAG[1] (p.Glu331del)
|
|
|
|
NM_003079.5(SMARCE1):c.989_990delinsGC (p.Glu330Gly)
|
|
|
|
NM_003079.5(SMARCE1):c.990_1004del (p.Glu330_Asp334del)
|
rs2143984558
|
|
|
NM_003079.5(SMARCE1):c.992A>G (p.Glu331Gly)
|
|
|
|
NM_003079.5(SMARCE1):c.993GAA[1] (p.Lys333del)
|
|
|
|
NM_003079.5(SMARCE1):c.995A>C (p.Lys332Thr)
|
rs766656583
|
|
|
NM_003079.5(SMARCE1):c.995A>G (p.Lys332Arg)
|
|
|
|
NM_003079.5(SMARCE1):c.998A>G (p.Lys333Arg)
|
rs948161312
|
|
|
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)
|
rs1565779530
|
|
|
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr)
|
rs2137715091
|
|
|
NM_003533.3(H3C11):c.82A>G (p.Lys28Glu)
|
rs1057519905
|
|
|
NM_003533.3(H3C11):c.83A>T (p.Lys28Met)
|
rs1057519904
|
|
|
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs)
|
rs1374026152
|
|
|
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys)
|
rs1567651815
|
|
|
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val)
|
rs1203876038
|
|
|
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=)
|
rs1567650874
|
|
|
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr)
|
rs1567650859
|
|
|
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.1220C>A (p.Thr407Asn)
|
|
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
|
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
|
|
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
|
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
|
|
|
|
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
|
|
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
|
NM_003640.5(ELP1):c.1644-13dup
|
rs756059162
|
|
|
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.1854+1G>A
|
rs1554696934
|
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
|
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.2283+11_2283+15del
|
rs778115996
|
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
|
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.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
|
NM_003640.5(ELP1):c.312T>C (p.Cys104=)
|
rs1291760879
|
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
|
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
|
|
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
|
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
|
|
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
|
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
|
|
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
|
NM_003640.5(ELP1):c.958+19_958+20delinsAT
|
rs2132024951
|
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
|
NM_003977.2(AIP):c.(?_1)_(*_?)del
|
|
|
|
NM_003977.2(AIP):c.-1212_279+578del
|
|
|
|
NM_003977.3(AIP):c.74_81delTCCCGGACins7
|
|
|
|
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
|
|
|
|
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
|
|
|
|
NM_003977.4(AIP):c.-12C>G
|
rs551077555
|
|
|
NM_003977.4(AIP):c.-2G>C
|
rs377710724
|
|
|
NM_003977.4(AIP):c.-85C>T
|
rs1565180279
|
|
|
NM_003977.4(AIP):c.100-1025_279+357del
|
|
|
|
NM_003977.4(AIP):c.102C>G (p.Ala34=)
|
rs886048584
|
|
|
NM_003977.4(AIP):c.136G>A (p.Glu46Lys)
|
rs772580337
|
|
|
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)
|
rs267606537
|
|
|
NM_003977.4(AIP):c.151G>A (p.Asp51Asn)
|
rs1591042638
|
|
|
NM_003977.4(AIP):c.164C>T (p.Ala55Val)
|
rs1865805899
|
|
|
NM_003977.4(AIP):c.166C>A (p.Arg56Ser)
|
rs267606538
|
|
|
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
|
|
|
|
NM_003977.4(AIP):c.241C>T (p.Arg81Ter)
|
rs267606541
|
|
|
NM_003977.4(AIP):c.245_249del (p.Glu82fs)
|
rs267606542
|
|
|
NM_003977.4(AIP):c.249G>A (p.Gly83=)
|
rs104895072
|
|
|
NM_003977.4(AIP):c.249G>T (p.Gly83=)
|
rs104895072
|
|
|
NM_003977.4(AIP):c.250G>A (p.Glu84Lys)
|
rs267606543
|
|
|
NM_003977.4(AIP):c.261G>C (p.Gln87His)
|
rs767982777
|
|
|
NM_003977.4(AIP):c.279G>A (p.Lys93=)
|
|
|
|
NM_003977.4(AIP):c.280-1G>A
|
rs267606544
|
|
|
NM_003977.4(AIP):c.286_287del (p.Val96fs)
|
rs267606545
|
|
|
NM_003977.4(AIP):c.2T>C (p.Met1Thr)
|
rs267606546
|
|
|
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
|
|
|
|
NM_003977.4(AIP):c.308A>G (p.Lys103Arg)
|
rs267606548
|
|
|
NM_003977.4(AIP):c.350del (p.Gly117fs)
|
rs267606549
|
|
|
NM_003977.4(AIP):c.379A>G (p.Met127Val)
|
rs1591044815
|
|
|
NM_003977.4(AIP):c.3G>A (p.Met1Ile)
|
rs886037871
|
|
|
NM_003977.4(AIP):c.3_4insC (p.Ala2fs)
|
rs267606547
|
|
|
NM_003977.4(AIP):c.404del (p.His135fs)
|
rs267606551
|
|
|
NM_003977.4(AIP):c.424C>T (p.Gln142Ter)
|
rs267606552
|
|
|
NM_003977.4(AIP):c.429G>A (p.Gln143=)
|
rs267606553
|
|
|
NM_003977.4(AIP):c.468+16G>T
|
rs267607273
|
|
|
NM_003977.4(AIP):c.468+1G>A
|
rs267606554
|
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
|
NM_003977.4(AIP):c.469-2A>G
|
rs267606556
|
|
|
NM_003977.4(AIP):c.474G>T (p.Glu158Asp)
|
rs1245383191
|
|
|
NM_003977.4(AIP):c.485C>T (p.Thr162Met)
|
rs764344774
|
|
|
NM_003977.4(AIP):c.490C>T (p.Gln164Ter)
|
rs104895073
|
|
|
NM_003977.4(AIP):c.500del (p.Pro167fs)
|
rs267606557
|
|
|
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
|
|
|
|
NM_003977.4(AIP):c.521_525del (p.Glu174fs)
|
rs267606558
|
|
|
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
|
|
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
|
NM_003977.4(AIP):c.550C>T (p.Gln184Ter)
|
rs267606560
|
|
|
NM_003977.4(AIP):c.601A>T (p.Lys201Ter)
|
rs267606563
|
|
|
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
|
|
|
|
NM_003977.4(AIP):c.646G>T (p.Glu216Ter)
|
rs267606565
|
|
|
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
|
|
|
|
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)
|
rs267606566
|
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
|
NM_003977.4(AIP):c.660C>T (p.Ser220=)
|
rs776495655
|
|
|
NM_003977.4(AIP):c.662C>T (p.Pro221Leu)
|
rs1426023503
|
|
|
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)
|
rs104895075
|
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
|
NM_003977.4(AIP):c.70G>T (p.Glu24Ter)
|
rs267606568
|
|
|
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)
|
rs267606569
|
|
|
NM_003977.4(AIP):c.714C>T (p.Cys238=)
|
rs267606570
|
|
|
NM_003977.4(AIP):c.715C>T (p.Gln239Ter)
|
rs267606571
|
|
|
NM_003977.4(AIP):c.721A>T (p.Lys241Ter)
|
rs267606573
|
|
|
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del)
|
rs267606574
|
|
|
NM_003977.4(AIP):c.769A>G (p.Ile257Val)
|
rs267606575
|
|
|
NM_003977.4(AIP):c.787+10G>A
|
rs776322323
|
|
|
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)
|
rs267606577
|
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
|
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)
|
rs267606578
|
|
|
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
|
|
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
|
NM_003977.4(AIP):c.829G>C (p.Ala277Pro)
|
rs267606581
|
|
|
NM_003977.4(AIP):c.844dup (p.Gln282fs)
|
|
|
|
NM_003977.4(AIP):c.854_857del (p.Gln285fs)
|
rs267606582
|
|
|
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
|
|
|
|
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
|
|
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
|
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)
|
rs145025838
|
|
|
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
|
|
|
|
NM_003977.4(AIP):c.987C>T (p.Ser329=)
|
rs267606587
|
|
|
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
|
|
|
|
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
|
|
|
|
NM_004168.4(SDHA):c.*13T>C
|
rs1042476
|
|
|
NM_004168.4(SDHA):c.-28_-20dup
|
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
|
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
|
|
|
|
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)
|
rs1560994846
|
|
|
NM_004168.4(SDHA):c.1005G>A (p.Lys335=)
|
rs1735559685
|
|
|
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)
|
rs1735559685
|
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
|
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
|
rs1579402533
|
|
|
NM_004168.4(SDHA):c.1008C>T (p.Asp336=)
|
|
|
|
NM_004168.4(SDHA):c.1009C>T (p.Leu337=)
|
|
|
|
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)
|
rs2126577878
|
|
|
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
|
|
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
|
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
|
|
|
|
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)
|
rs1560994866
|
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|
NM_004168.4(SDHA):c.1014G>T (p.Ala338=)
|
rs201341132
|
|
|
NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro)
|
rs1553999041
|
|
|
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)
|
rs1553999043
|
|
|
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
|
rs1579402602
|
|
|
NM_004168.4(SDHA):c.1020A>G (p.Arg340=)
|
rs2126577996
|
|
|
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
|
rs1579402616
|
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|
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
|
|
|
|
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
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NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)
|
rs1735562520
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NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)
|
rs2126578027
|
|
|
NM_004168.4(SDHA):c.1026G>A (p.Val342=)
|
rs1060505004
|
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NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)
|
rs2126578052
|
|
|
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
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|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
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NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
|
|
|
|
NM_004168.4(SDHA):c.1029G>A (p.Val343=)
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|
NM_004168.4(SDHA):c.102C>T (p.His34=)
|
rs2126539644
|
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NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)
|
rs1735563330
|
|
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NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)
|
rs1735563548
|
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NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)
|
rs2126578081
|
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NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
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NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)
|
rs1483236652
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NM_004168.4(SDHA):c.1035del (p.Ser346fs)
|
rs2126578126
|
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NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
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NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)
|
rs1041948
|
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NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)
|
rs1735564312
|
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NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
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NM_004168.4(SDHA):c.1038C>A (p.Ser346=)
|
rs1041949
|
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NM_004168.4(SDHA):c.1038C>T (p.Ser346=)
|
rs1041949
|
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NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
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NM_004168.4(SDHA):c.1039A>G (p.Met347Val)
|
rs1245387180
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NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)
|
rs1553999054
|
|
|
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)
|
rs371484111
|
|
|
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)
|
rs371484111
|
|
|
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
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|
|
NM_004168.4(SDHA):c.1044T>A (p.Thr348=)
|
rs1553999055
|
|
|
NM_004168.4(SDHA):c.1045C>T (p.Leu349=)
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|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
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|
NM_004168.4(SDHA):c.1053C>A (p.Ile351=)
|
rs2126578352
|
|
|
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)
|
rs199844384
|
|
|
NM_004168.4(SDHA):c.1056A>C (p.Arg352=)
|
rs779804839
|
|
|
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)
|
rs1328911130
|
|
|
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)
|
rs2126578405
|
|
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NM_004168.4(SDHA):c.1059A>G (p.Glu353=)
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|
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|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
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NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)
|
rs746611221
|
|
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NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)
|
rs2126578424
|
|
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NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
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|
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|
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
|
|
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|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
|
NM_004168.4(SDHA):c.1064+2T>C
|
|
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NM_004168.4(SDHA):c.1064+2T>G
|
rs1553999072
|
|
|
NM_004168.4(SDHA):c.1064+3G>A
|
rs1553999078
|
|
|
NM_004168.4(SDHA):c.1064+3G>C
|
|
|
|
NM_004168.4(SDHA):c.1064+4C>A
|
rs768276870
|
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|
NM_004168.4(SDHA):c.1064+4C>G
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|
|
|
NM_004168.4(SDHA):c.1064+5G>C
|
rs200021115
|
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NM_004168.4(SDHA):c.1064+5GT[3]
|
rs2126578488
|
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|
NM_004168.4(SDHA):c.1064+6T>C
|
|
|
|
NM_004168.4(SDHA):c.1064+7G>A
|
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NM_004168.4(SDHA):c.1064+7G>T
|
rs2126578502
|
|
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NM_004168.4(SDHA):c.1064+9G>A
|
|
|
|
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
|
|
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NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)
|
rs1735568346
|
|
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NM_004168.4(SDHA):c.1065-10G>C
|
rs2126584071
|
|
|
NM_004168.4(SDHA):c.1065-11T>C
|
|
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|
NM_004168.4(SDHA):c.1065-12C>G
|
|
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|
NM_004168.4(SDHA):c.1065-12_1065-11del
|
|
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|
NM_004168.4(SDHA):c.1065-13T>C
|
|
|
|
NM_004168.4(SDHA):c.1065-17G>C
|
rs1268945057
|
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|
NM_004168.4(SDHA):c.1065-17_1065-15dup
|
|
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|
NM_004168.4(SDHA):c.1065-18G>C
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NM_004168.4(SDHA):c.1065-19T>A
|
|
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NM_004168.4(SDHA):c.1065-19T>C
|
rs1735682737
|
|
|
NM_004168.4(SDHA):c.1065-20A>G
|
|
|
|
NM_004168.4(SDHA):c.1065-2A>G
|
|
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NM_004168.4(SDHA):c.1065-5A>G
|
rs1579406152
|
|
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NM_004168.4(SDHA):c.1065-6T>C
|
rs1579406151
|
|
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NM_004168.4(SDHA):c.1065-8C>G
|
|
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|
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)
|
rs2126584114
|
|
|
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)
|
rs1735685410
|
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
|
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)
|
rs1560996433
|
|
|
NM_004168.4(SDHA):c.1071T>C (p.Cys357=)
|
rs1553999410
|
|
|
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
|
|
|
|
NM_004168.4(SDHA):c.1074C>T (p.Gly358=)
|
rs1421396049
|
|
|
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
|
|
|
|
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
|
|
|
|
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
|
|
|
|
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
|
|
|
|
NM_004168.4(SDHA):c.1083A>G (p.Lys361=)
|
rs1579406203
|
|
|
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)
|
rs1735687291
|
|
|
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)
|
rs2126584224
|
|
|
NM_004168.4(SDHA):c.1086T>C (p.Asp362=)
|
rs2126584236
|
|
|
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)
|
rs1553999417
|
|
|
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)
|
rs1553999417
|
|
|
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
|
|
|
|
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)
|
rs368488126
|
|
|
NM_004168.4(SDHA):c.108T>C (p.Thr36=)
|
rs1301747916
|
|
|
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)
|
rs372738835
|
|
|
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
|
|
|
|
NM_004168.4(SDHA):c.1092C>G (p.Val364=)
|
rs886060515
|
|
|
NM_004168.4(SDHA):c.1096C>T (p.Leu366=)
|
rs1305056679
|
|
|
NM_004168.4(SDHA):c.1098G>C (p.Leu366=)
|
rs1346189100
|
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
|
NM_004168.4(SDHA):c.1101G>A (p.Gln367=)
|
|
|
|
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
|
|
|
|
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)
|
rs2126584397
|
|
|
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)
|
rs1735689664
|
|
|
NM_004168.4(SDHA):c.1104G>A (p.Leu368=)
|
rs2126584401
|
|
|
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
|
|
|
|
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)
|
rs2126584410
|
|
|
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
|
|
|
|
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)
|
rs1268877544
|
|
|
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)
|
rs1060503704
|
|
|
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)
|
rs1060503704
|
|
|
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)
|
rs1735690368
|
|
|
NM_004168.4(SDHA):c.1111C>T (p.Leu371=)
|
rs1735690368
|
|
|
NM_004168.4(SDHA):c.1113A>G (p.Leu371=)
|
rs2126584480
|
|
|
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
|
|
|
|
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)
|
rs141493530
|
|
|
NM_004168.4(SDHA):c.1116T>G (p.Pro372=)
|
rs1735691014
|
|
|
NM_004168.4(SDHA):c.1119A>C (p.Pro373=)
|
rs1428505412
|
|
|
NM_004168.4(SDHA):c.1119A>G (p.Pro373=)
|
rs1428505412
|
|
|
NM_004168.4(SDHA):c.111T>C (p.Val37=)
|
|
|
|
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
|
|
|
|
NM_004168.4(SDHA):c.1122G>A (p.Glu374=)
|
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
|
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
|
|
|
|
NM_004168.4(SDHA):c.1126C>T (p.Leu376=)
|
rs1579406388
|
|
|
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)
|
rs1735692451
|
|
|
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)
|
rs1553997174
|
|
|
NM_004168.4(SDHA):c.112G>C (p.Asp38His)
|
rs1553997174
|
|
|
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)
|
rs1553999443
|
|
|
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)
|
rs1553999443
|
|
|
NM_004168.4(SDHA):c.1131C>T (p.Ala377=)
|
rs2126584661
|
|
|
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
|
|
|
|
NM_004168.4(SDHA):c.1134G>C (p.Thr378=)
|
rs370002515
|
|
|
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)
|
rs770719847
|
|
|
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)
|
rs1735694280
|
|
|
NM_004168.4(SDHA):c.1138C>T (p.Leu380=)
|
|
|
|
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
|
|
|
|
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
|
|
|
|
NM_004168.4(SDHA):c.1140G>A (p.Leu380=)
|
rs146348714
|
|
|
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)
|
rs1735694889
|
|
|
NM_004168.4(SDHA):c.1143T>C (p.Pro381=)
|
rs1735695108
|
|
|
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)
|
rs2126584776
|
|
|
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)
|
rs373067620
|
|
|
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)
|
rs2126584806
|
|
|
NM_004168.4(SDHA):c.114T>C (p.Asp38=)
|
|
|
|
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
|
|
|
|
NM_004168.4(SDHA):c.1152A>T (p.Ser384=)
|
rs2126584840
|
|
|
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)
|
rs1553999461
|
|
|
NM_004168.4(SDHA):c.1158A>C (p.Thr386=)
|
rs2126584886
|
|
|
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)
|
rs2126584893
|
|
|
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
|
|
|
|
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
|
|
|
|
NM_004168.4(SDHA):c.1161C>T (p.Ala387=)
|
|
|
|
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)
|
rs1579406553
|
|
|
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)
|
rs1419241279
|
|
|
NM_004168.4(SDHA):c.1167C>T (p.Ile389=)
|
rs2126584963
|
|
|
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
|
|
|
|
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)
|
rs35277230
|
|
|
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro)
|
rs376597185
|
|
|
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)
|
rs376597185
|
|
|
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
|
|
|
|
NM_004168.4(SDHA):c.1173T>C (p.Ala391=)
|
rs1579406627
|
|
|
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
|
|
|
|
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
|
|
|
|
NM_004168.4(SDHA):c.1176C>A (p.Gly392=)
|
rs1041950
|
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
|
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
|
NM_004168.4(SDHA):c.1185C>G (p.Val395=)
|
rs2126585130
|
|
|
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)
|
rs745798689
|
|
|
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
|
|
|
|
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
|
rs1035794713
|
|
|
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
|
|
|
|
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
|
|
|
|
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
|
|
|
|
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)
|
rs2126585242
|
|
|
NM_004168.4(SDHA):c.1197G>T (p.Pro399=)
|
rs771919335
|
|
|
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)
|
rs876660886
|
|
|
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)
|
rs1734833856
|
|
|
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
|
|
|
|
NM_004168.4(SDHA):c.11T>G (p.Val4Gly)
|
rs1579369675
|
|
|
NM_004168.4(SDHA):c.1200C>T (p.Ile400=)
|
rs748383004
|
|
|
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)
|
rs1560996818
|
|
|
NM_004168.4(SDHA):c.1203T>C (p.Pro401=)
|
rs1553999484
|
|
|
NM_004168.4(SDHA):c.1203T>G (p.Pro401=)
|
|
|
|
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
|
|
|
|
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)
|
rs2126585344
|
|
|
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)
|
rs2126585353
|
|
|
NM_004168.4(SDHA):c.1206C>G (p.Val402=)
|
|
|
|
NM_004168.4(SDHA):c.1206C>T (p.Val402=)
|
rs1183961449
|
|
|
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
|
|
|
|
NM_004168.4(SDHA):c.1209C>A (p.Leu403=)
|
rs2126585389
|
|
|
NM_004168.4(SDHA):c.1209C>T (p.Leu403=)
|
|
|
|
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.120C>T (p.Asn40=)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_004168.4(SDHA):c.1212C>A (p.Pro404=)
|
rs1579406812
|
|
|
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)
|
rs1553999491
|
|
|
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
|
|
|
|
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)
|
rs762888704
|
|
|
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)
|
rs1258201485
|
|
|
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)
|
rs374087393
|
|
|
NM_004168.4(SDHA):c.1221T>C (p.His407=)
|
rs2126585516
|
|
|
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
|
|
|
|
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1227C>T (p.Asn409=)
|
rs2126585562
|
|
|
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)
|
rs876658852
|
|
|
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)
|
rs1553999505
|
|
|
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
|
|
|
|
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)
|
rs1735707028
|
|
|
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)
|
rs2126585602
|
|
|
NM_004168.4(SDHA):c.1233C>A (p.Gly411=)
|
rs376530094
|
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
|
NM_004168.4(SDHA):c.1236C>T (p.Gly412=)
|
|
|
|
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
|
|
|
|
NM_004168.4(SDHA):c.123G>A (p.Lys41=)
|
rs1553997185
|
|
|
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)
|
rs1735708028
|
|
|
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)
|
rs1735708028
|
|
|
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)
|
rs2126585682
|
|
|
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)
|
rs2126585699
|
|
|
NM_004168.4(SDHA):c.1245C>G (p.Thr415=)
|
rs2126585715
|
|
|
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)
|
rs2126585710
|
|
|
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
|
|
|
|
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)
|
rs1409603646
|
|
|
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
|
|
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
|
NM_004168.4(SDHA):c.1257G>T (p.Gly419=)
|
rs753410011
|
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
|
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)
|
rs1735709829
|
|
|
NM_004168.4(SDHA):c.1260+10C>T
|
rs1300688046
|
|
|
NM_004168.4(SDHA):c.1260+12G>A
|
|
|
|
NM_004168.4(SDHA):c.1260+13G>C
|
|
|
|
NM_004168.4(SDHA):c.1260+14C>T
|
rs1237313111
|
|
|
NM_004168.4(SDHA):c.1260+16C>T
|
rs2126585898
|
|
|
NM_004168.4(SDHA):c.1260+17C>T
|
rs750384205
|
|
|
NM_004168.4(SDHA):c.1260+18T>A
|
|
|
|
NM_004168.4(SDHA):c.1260+18T>C
|
|
|
|
NM_004168.4(SDHA):c.1260+19C>T
|
rs1735711604
|
|
|
NM_004168.4(SDHA):c.1260+1G>A
|
rs1735710012
|
|
|
NM_004168.4(SDHA):c.1260+23dup
|
|
|
|
NM_004168.4(SDHA):c.1260+2T>A
|
rs1735710103
|
|
|
NM_004168.4(SDHA):c.1260+3G>T
|
rs2126585827
|
|
|
NM_004168.4(SDHA):c.1260+6G>A
|
rs2126585843
|
|
|
NM_004168.4(SDHA):c.1260+8T>A
|
rs1325588204
|
|
|
NM_004168.4(SDHA):c.1260+8T>G
|
|
|
|
NM_004168.4(SDHA):c.1260+9G>T
|
rs1060505003
|
|
|
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
|
|
|
|
NM_004168.4(SDHA):c.1261-10C>G
|
rs1579409244
|
|
|
NM_004168.4(SDHA):c.1261-10C>T
|
rs1579409244
|
|
|
NM_004168.4(SDHA):c.1261-10del
|
|
|
|
NM_004168.4(SDHA):c.1261-11C>A
|
|
|
|
NM_004168.4(SDHA):c.1261-11C>G
|
rs2126589164
|
|
|
NM_004168.4(SDHA):c.1261-14C>T
|
|
|
|
NM_004168.4(SDHA):c.1261-16A>G
|
|
|
|
NM_004168.4(SDHA):c.1261-16A>T
|
rs1170006255
|
|
|
NM_004168.4(SDHA):c.1261-17A>T
|
|
|
|
NM_004168.4(SDHA):c.1261-19G>T
|
|
|
|
NM_004168.4(SDHA):c.1261-1G>A
|
rs1735779936
|
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
|
NM_004168.4(SDHA):c.1261-3C>T
|
rs1553999705
|
|
|
NM_004168.4(SDHA):c.1261-4A>G
|
rs1553999703
|
|
|
NM_004168.4(SDHA):c.1261-4A>T
|
rs1553999703
|
|
|
NM_004168.4(SDHA):c.1261-6_1261-5insGAA
|
|
|
|
NM_004168.4(SDHA):c.1261-7T>A
|
rs1423583851
|
|
|
NM_004168.4(SDHA):c.1261-7T>G
|
rs1423583851
|
|
|
NM_004168.4(SDHA):c.1261-9T>A
|
rs1553999698
|
|
|
NM_004168.4(SDHA):c.1261-9T>C
|
rs1553999698
|
|
|
NM_004168.4(SDHA):c.1263C>T (p.Val421=)
|
rs2126589252
|
|
|
NM_004168.4(SDHA):c.126G>A (p.Arg42=)
|
rs2126539845
|
|
|
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)
|
rs1579409312
|
|
|
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)
|
rs754805626
|
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
|
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)
|
rs201822097
|
|
|
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)
|
rs200047573
|
|
|
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)
|
rs1060503725
|
|
|
NM_004168.4(SDHA):c.1278T>C (p.Asn426=)
|
rs2126589395
|
|
|
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)
|
rs1735782215
|
|
|
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
|
|
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
|
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)
|
rs1735782951
|
|
|
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)
|
rs988419580
|
|
|
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
|
|
|
|
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
|
|
|
|
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
|
|
|
|
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
|
|
|
|
NM_004168.4(SDHA):c.1290G>A (p.Gln430=)
|
rs772728779
|
|
|
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
|
rs1579409384
|
|
|
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)
|
rs776188923
|
|
|
NM_004168.4(SDHA):c.1293T>C (p.Ile431=)
|
rs1553999716
|
|
|
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)
|
rs2126589526
|
|
|
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)
|
rs1490844767
|
|
|
NM_004168.4(SDHA):c.1296G>A (p.Val432=)
|
|
|
|
NM_004168.4(SDHA):c.1296G>T (p.Val432=)
|
rs1223308548
|
|
|
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)
|
rs1560998056
|
|
|
NM_004168.4(SDHA):c.12C>T (p.Val4=)
|
rs749406988
|
|
|
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)
|
rs529198317
|
|
|
NM_004168.4(SDHA):c.1302C>T (p.Gly434=)
|
rs1579409486
|
|
|
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1305G>A (p.Leu435=)
|
rs35964044
|
|
|
NM_004168.4(SDHA):c.1305G>C (p.Leu435=)
|
rs35964044
|
|
|
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr)
|
rs1553999731
|
|
|
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
|
|
|
|
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)
|
rs1424809160
|
|
|
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)
|
rs1424809160
|
|
|
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)
|
rs1579409601
|
|
|
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)
|
rs374086655
|
|
|
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)
|
rs768469627
|
|
|
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)
|
rs1735789566
|
|
|
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
|
|
|
|
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)
|
rs1735789704
|
|
|
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)
|
rs1735789704
|
|
|
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)
|
rs1734835164
|
|
|
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
|
|
|
|
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)
|
rs1734835164
|
|
|
NM_004168.4(SDHA):c.1320G>A (p.Glu440=)
|
rs2126589773
|
|
|
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
|
|
|
|
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
|
|
|
|
NM_004168.4(SDHA):c.1323C>G (p.Ala441=)
|
rs751561561
|
|
|
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)
|
rs754893758
|
|
|
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
|
|
|
|
NM_004168.4(SDHA):c.1326C>T (p.Ala442=)
|
rs2126589832
|
|
|
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)
|
rs2126589848
|
|
|
NM_004168.4(SDHA):c.1329T>C (p.Cys443=)
|
rs2126589870
|
|
|
NM_004168.4(SDHA):c.132T>A (p.Ser44=)
|
|
|
|
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
|
|
|
|
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)
|
rs1735790227
|
|
|
NM_004168.4(SDHA):c.1332C>G (p.Ala444=)
|
rs1060505011
|
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
|
NM_004168.4(SDHA):c.1335G>C (p.Ser445=)
|
|
|
|
NM_004168.4(SDHA):c.1335G>T (p.Ser445=)
|
rs200223188
|
|
|
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
|
|
|
|
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)
|
rs2126589966
|
|
|
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)
|
rs140736646
|
|
|
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)
|
rs779151375
|
|
|
NM_004168.4(SDHA):c.1341T>C (p.His447=)
|
rs2126589989
|
|
|
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)
|
rs1064795863
|
|
|
NM_004168.4(SDHA):c.1344T>A (p.Gly448=)
|
|
|
|
NM_004168.4(SDHA):c.1344T>C (p.Gly448=)
|
rs551497992
|
|
|
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)
|
rs1485193902
|
|
|
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
|
|
|
|
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)
|
rs201139275
|
|
|
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)
|
rs201139275
|
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
|
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)
|
rs1553997190
|
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
|
NM_004168.4(SDHA):c.1353C>T (p.Arg451=)
|
rs555342133
|
|
|
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)
|
rs1064796477
|
|
|
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
|
|
|
|
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)
|
rs1735794275
|
|
|
NM_004168.4(SDHA):c.1359G>A (p.Gly453=)
|
|
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
|
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
|
rs1057517550
|
|
|
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)
|
rs1553999766
|
|
|
NM_004168.4(SDHA):c.1365C>T (p.Asn455=)
|
rs1579409853
|
|
|
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
|
|
|
|
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
|
|
|
|
NM_004168.4(SDHA):c.1368G>T (p.Ser456=)
|
|
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
|
NM_004168.4(SDHA):c.1371C>G (p.Leu457=)
|
rs75091805
|
|
|
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)
|
rs1735797053
|
|
|
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)
|
rs1735797208
|
|
|
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)
|
rs2126590273
|
|
|
NM_004168.4(SDHA):c.1377C>T (p.Asp459=)
|
rs1579409909
|
|
|
NM_004168.4(SDHA):c.1378C>T (p.Leu460=)
|
rs760686493
|
|
|
NM_004168.4(SDHA):c.1380G>A (p.Leu460=)
|
|
|
|
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
|
|
|
|
NM_004168.4(SDHA):c.1386C>G (p.Val462=)
|
|
|
|
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
|
|
|
|
NM_004168.4(SDHA):c.1389T>C (p.Phe463=)
|
rs2126590369
|
|
|
NM_004168.4(SDHA):c.138A>G (p.Lys46=)
|
|
|
|
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)
|
rs2126590387
|
|
|
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
|
|
|
|
NM_004168.4(SDHA):c.1392T>G (p.Gly464=)
|
rs1579409940
|
|
|
NM_004168.4(SDHA):c.1393C>A (p.Arg465=)
|
rs752461029
|
|
|
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
|
|
|
|
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)
|
rs111387770
|
|
|
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
|
|
|
|
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)
|
rs1735798915
|
|
|
NM_004168.4(SDHA):c.1398A>C (p.Ala466=)
|
rs878854626
|
|
|
NM_004168.4(SDHA):c.13C>A (p.Arg5=)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)
|
rs1057524636
|
|
|
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)
|
rs1735799664
|
|
|
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
|
rs1241820374
|
|
|
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
|
|
|
|
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)
|
rs1735800203
|
|
|
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)
|
rs34779890
|
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
|
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
|
|
|
|
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)
|
rs2126590644
|
|
|
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)
|
rs1560998495
|
|
|
NM_004168.4(SDHA):c.141T>C (p.Val47=)
|
rs748490907
|
|
|
NM_004168.4(SDHA):c.141T>G (p.Val47=)
|
rs748490907
|
|
|
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)
|
rs2126590674
|
|
|
NM_004168.4(SDHA):c.1422A>G (p.Ser474=)
|
rs201868424
|
|
|
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)
|
rs748567636
|
|
|
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
|
|
|
|
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)
|
rs2126590736
|
|
|
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)
|
rs377415114
|
|
|
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)
|
rs377415114
|
|
|
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
|
|
|
|
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)
|
rs146990772
|
|
|
NM_004168.4(SDHA):c.1432+10T>C
|
|
|
|
NM_004168.4(SDHA):c.1432+11T>A
|
|
|
|
NM_004168.4(SDHA):c.1432+15C>T
|
rs2126590874
|
|
|
NM_004168.4(SDHA):c.1432+1G>A
|
|
|
|
NM_004168.4(SDHA):c.1432+1G>C
|
rs878854628
|
|
|
NM_004168.4(SDHA):c.1432+1G>T
|
rs878854628
|
|
|
NM_004168.4(SDHA):c.1432+20G>A
|
|
|
|
NM_004168.4(SDHA):c.1432+20G>C
|
rs200127852
|
|
|
NM_004168.4(SDHA):c.1432+2T>G
|
|
|
|
NM_004168.4(SDHA):c.1432+3A>G
|
|
|
|
NM_004168.4(SDHA):c.1432+4A>G
|
rs1553999798
|
|
|
NM_004168.4(SDHA):c.1432+7G>A
|
rs760526397
|
|
|
NM_004168.4(SDHA):c.1432+7G>T
|
rs760526397
|
|
|
NM_004168.4(SDHA):c.1432+9T>G
|
rs1735803426
|
|
|
NM_004168.4(SDHA):c.1432+9_1432+11del
|
rs2126590852
|
|
|
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
|
|
|
|
NM_004168.4(SDHA):c.1433-10T>G
|
|
|
|
NM_004168.4(SDHA):c.1433-11T>C
|
|
|
|
NM_004168.4(SDHA):c.1433-11T>G
|
rs1194122879
|
|
|
NM_004168.4(SDHA):c.1433-13T>C
|
|
|
|
NM_004168.4(SDHA):c.1433-14T>A
|
rs2126602367
|
|
|
NM_004168.4(SDHA):c.1433-14T>C
|
rs2126602367
|
|
|
NM_004168.4(SDHA):c.1433-14T>G
|
rs2126602367
|
|
|
NM_004168.4(SDHA):c.1433-15T>A
|
|
|
|
NM_004168.4(SDHA):c.1433-16C>G
|
|
|
|
NM_004168.4(SDHA):c.1433-18A>G
|
|
|
|
NM_004168.4(SDHA):c.1433-19T>C
|
rs2126602340
|
|
|
NM_004168.4(SDHA):c.1433-2A>G
|
|
|
|
NM_004168.4(SDHA):c.1433-3T>C
|
rs1736060812
|
|
|
NM_004168.4(SDHA):c.1433-3del
|
rs2126602411
|
|
|
NM_004168.4(SDHA):c.1433-4T>G
|
rs2126602419
|
|
|
NM_004168.4(SDHA):c.1433-5T>A
|
rs2126602416
|
|
|
NM_004168.4(SDHA):c.1433-7G>A
|
|
|
|
NM_004168.4(SDHA):c.1433-8T>G
|
rs2126602401
|
|
|
NM_004168.4(SDHA):c.1433-8del
|
|
|
|
NM_004168.4(SDHA):c.1433-8dup
|
rs769594966
|
|
|
NM_004168.4(SDHA):c.1433-9T>C
|
rs1579417426
|
|
|
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
|
|
|
|
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
|
|
|
|
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
|
|
|
|
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)
|
rs1579417444
|
|
|
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
|
|
|
|
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
|
|
|
|
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
|
|
|
|
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)
|
rs1736061170
|
|
|
NM_004168.4(SDHA):c.1443C>A (p.Val481=)
|
rs751871185
|
|
|
NM_004168.4(SDHA):c.1443C>T (p.Val481=)
|
rs751871185
|
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
|
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)
|
rs759661610
|
|
|
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)
|
rs759661610
|
|
|
NM_004168.4(SDHA):c.1446T>G (p.Pro482=)
|
rs767646499
|
|
|
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)
|
rs2126602519
|
|
|
NM_004168.4(SDHA):c.144A>G (p.Ser48=)
|
|
|
|
NM_004168.4(SDHA):c.1452T>C (p.Ile484=)
|
|
|
|
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
|
|
|
|
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)
|
rs1736062209
|
|
|
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)
|
rs1060503706
|
|
|
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)
|
rs1579417528
|
|
|
NM_004168.4(SDHA):c.1458A>G (p.Pro486=)
|
rs2126602561
|
|
|
NM_004168.4(SDHA):c.145G>C (p.Asp49His)
|
rs1734836072
|
|
|
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
|
|
|
|
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)
|
rs369100772
|
|
|
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)
|
rs1421325038
|
|
|
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)
|
rs2126602614
|
|
|
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
|
|
|
|
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
|
|
|
|
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
|
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
|
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)
|
rs2126602655
|
|
|
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)
|
rs778207102
|
|
|
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
|
rs754324916
|
|
|
NM_004168.4(SDHA):c.1473del (p.Glu491fs)
|
|
|
|
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
|
rs1579417619
|
|
|
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
|
|
|
|
NM_004168.4(SDHA):c.1479C>T (p.Val493=)
|
rs2126602710
|
|
|
NM_004168.4(SDHA):c.147T>C (p.Asp49=)
|
rs2126539950
|
|
|
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)
|
rs1579417628
|
|
|
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)
|
rs1561001630
|
|
|
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
|
|
|
|
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)
|
rs1305001616
|
|
|
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)
|
rs1560985310
|
|
|
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
|
rs1579417658
|
|
|
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
|
|
|
|
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
|
|
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
|
NM_004168.4(SDHA):c.1498A>C (p.Arg500=)
|
rs2126602800
|
|
|
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)
|
rs369321221
|
|
|
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)
|
rs369321221
|
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
|
NM_004168.4(SDHA):c.150+12C>G
|
rs773966272
|
|
|
NM_004168.4(SDHA):c.150+14T>C
|
|
|
|
NM_004168.4(SDHA):c.150+14T>G
|
|
|
|
NM_004168.4(SDHA):c.150+15T>C
|
rs1734837973
|
|
|
NM_004168.4(SDHA):c.150+17dup
|
rs1734837730
|
|
|
NM_004168.4(SDHA):c.150+18G>A
|
|
|
|
NM_004168.4(SDHA):c.150+1G>C
|
rs1057523165
|
|
|
NM_004168.4(SDHA):c.150+21_150+25del
|
|
|
|
NM_004168.4(SDHA):c.150+2dup
|
rs1560985349
|
|
|
NM_004168.4(SDHA):c.150+4A>G
|
rs1734837029
|
|
|
NM_004168.4(SDHA):c.150+6T>G
|
rs1060503699
|
|
|
NM_004168.4(SDHA):c.150+7T>G
|
rs1734837376
|
|
|
NM_004168.4(SDHA):c.150+9A>G
|
rs1553997201
|
|
|
NM_004168.4(SDHA):c.1500A>G (p.Arg500=)
|
|
|
|
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)
|
rs757932443
|
|
|
NM_004168.4(SDHA):c.1506T>C (p.Ala502=)
|
rs1364448678
|
|
|
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)
|
rs2126602837
|
|
|
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)
|
rs1736066055
|
|
|
NM_004168.4(SDHA):c.1509T>C (p.Asp503=)
|
rs2126602858
|
|
|
NM_004168.4(SDHA):c.150_150+1delinsTA
|
rs2126539987
|
|
|
NM_004168.4(SDHA):c.151-15A>G
|
|
|
|
NM_004168.4(SDHA):c.151-16A>C
|
|
|
|
NM_004168.4(SDHA):c.151-17G>A
|
|
|
|
NM_004168.4(SDHA):c.151-18T>G
|
|
|
|
NM_004168.4(SDHA):c.151-1G>C
|
rs1458851277
|
|
|
NM_004168.4(SDHA):c.151-20G>C
|
rs2126542228
|
|
|
NM_004168.4(SDHA):c.151-20G>T
|
rs2126542228
|
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
|
NM_004168.4(SDHA):c.151-3C>T
|
|
|
|
NM_004168.4(SDHA):c.151-6T>C
|
|
|
|
NM_004168.4(SDHA):c.151-8T>C
|
|
|
|
NM_004168.4(SDHA):c.151-9C>G
|
rs1734881724
|
|
|
NM_004168.4(SDHA):c.151-9_151-7del
|
rs2126542243
|
|
|
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
|
rs1579417710
|
|
|
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)
|
rs1060503722
|
|
|
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
|
rs1561001683
|
|
|
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)
|
rs2126602878
|
|
|
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
|
|
|
|
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)
|
rs1060503718
|
|
|
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)
|
rs1060503718
|
|
|
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
|
rs1579417769
|
|
|
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
|
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
|
|
|
|
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)
|
rs768257880
|
|
|
NM_004168.4(SDHA):c.1531C>T (p.Leu511=)
|
rs768257880
|
|
|
NM_004168.4(SDHA):c.1533G>A (p.Leu511=)
|
rs876658698
|
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
|
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
|
|
|
|
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)
|
rs587781729
|
|
|
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)
|
rs587781729
|
|
|
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)
|
rs1736069297
|
|
|
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
|
|
|
|
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)
|
rs1736069479
|
|
|
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
|
rs981171929
|
|
|
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
|
|
|
|
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)
|
rs1554000378
|
|
|
NM_004168.4(SDHA):c.1548G>A (p.Gln516=)
|
rs2126603098
|
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
|
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)
|
rs1736070159
|
|
|
NM_004168.4(SDHA):c.1551+11G>C
|
|
|
|
NM_004168.4(SDHA):c.1551+12G>A
|
|
|
|
NM_004168.4(SDHA):c.1551+14C>T
|
|
|
|
NM_004168.4(SDHA):c.1551+16C>G
|
|
|
|
NM_004168.4(SDHA):c.1551+18C>A
|
|
|
|
NM_004168.4(SDHA):c.1551+18C>T
|
rs2126603212
|
|
|
NM_004168.4(SDHA):c.1551+1G>A
|
rs759806010
|
|
|
NM_004168.4(SDHA):c.1551+3A>G
|
rs767596385
|
|
|
NM_004168.4(SDHA):c.1551+4A>T
|
rs928294715
|
|
|
NM_004168.4(SDHA):c.1551+5G>C
|
rs2126603143
|
|
|
NM_004168.4(SDHA):c.1551+6A>G
|
rs369507726
|
|
|
NM_004168.4(SDHA):c.1551+7G>A
|
rs760796714
|
|
|
NM_004168.4(SDHA):c.1551+9C>T
|
rs2126603158
|
|
|
NM_004168.4(SDHA):c.1552-10T>C
|
|
|
|
NM_004168.4(SDHA):c.1552-10T>G
|
rs1736784473
|
|
|
NM_004168.4(SDHA):c.1552-12T>C
|
rs2126631871
|
|
|
NM_004168.4(SDHA):c.1552-173_1585dup
|
rs1736773597
|
|
|
NM_004168.4(SDHA):c.1552-17A>T
|
|
|
|
NM_004168.4(SDHA):c.1552-18T>A
|
|
|
|
NM_004168.4(SDHA):c.1552-18T>G
|
rs2126631828
|
|
|
NM_004168.4(SDHA):c.1552-1G>C
|
|
|
|
NM_004168.4(SDHA):c.1552-20A>C
|
rs1378314484
|
|
|
NM_004168.4(SDHA):c.1552-20A>G
|
rs1378314484
|
|
|
NM_004168.4(SDHA):c.1552-2591A>G
|
|
|
|
NM_004168.4(SDHA):c.1552-3_1552-2del
|
rs2126631914
|
|
|
NM_004168.4(SDHA):c.1552-4A>C
|
|
|
|
NM_004168.4(SDHA):c.1552-6C>T
|
rs2126631902
|
|
|
NM_004168.4(SDHA):c.1552-7G>C
|
rs1351792129
|
|
|
NM_004168.4(SDHA):c.1552-7G>T
|
rs1351792129
|
|
|
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
|
|
|
|
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)
|
rs2126631929
|
|
|
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)
|
rs2126631937
|
|
|
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)
|
rs2126631942
|
|
|
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
|
|
|
|
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)
|
rs2126631964
|
|
|
NM_004168.4(SDHA):c.1560A>G (p.Gln520=)
|
rs1261025402
|
|
|
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
|
|
|
|
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
|
|
|
|
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
|
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
|
|
|
|
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)
|
rs1554001820
|
|
|
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1569T>A (p.Ala523=)
|
|
|
|
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
|
|
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
|
NM_004168.4(SDHA):c.1572C>G (p.Ala524=)
|
rs185679709
|
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
|
NM_004168.4(SDHA):c.1578C>T (p.Phe526=)
|
rs2126632042
|
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
|
NM_004168.4(SDHA):c.1581T>C (p.Arg527=)
|
rs2126632074
|
|
|
NM_004168.4(SDHA):c.1582G>A (p.Val528Met)
|
rs1554001827
|
|
|
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
|
|
|
|
NM_004168.4(SDHA):c.1584G>C (p.Val528=)
|
|
|
|
NM_004168.4(SDHA):c.1584G>T (p.Val528=)
|
|
|
|
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)
|
rs2126632088
|
|
|
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
|
|
|
|
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
|
|
|
|
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)
|
rs371056571
|
|
|
NM_004168.4(SDHA):c.1593G>A (p.Val531=)
|
rs2126632110
|
|
|
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)
|
rs1449742263
|
|
|
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)
|
rs1395387473
|
|
|
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)
|
rs1395387473
|
|
|
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)
|
rs1736788779
|
|
|
NM_004168.4(SDHA):c.1599A>G (p.Gln533=)
|
rs1407806818
|
|
|
NM_004168.4(SDHA):c.159T>C (p.Ala53=)
|
|
|
|
NM_004168.4(SDHA):c.15G>C (p.Arg5=)
|
|
|
|
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
|
|
|
|
NM_004168.4(SDHA):c.1602A>G (p.Glu534=)
|
rs2126632157
|
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
|
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)
|
rs1736789855
|
|
|
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
|
|
|
|
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
|
|
|
|
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
|
|
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
|
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
|
|
|
|
NM_004168.4(SDHA):c.1614A>G (p.Lys538=)
|
rs1554001847
|
|
|
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
|
|
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
|
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)
|
rs749219128
|
|
|
NM_004168.4(SDHA):c.1617C>T (p.Ile539=)
|
rs2126632215
|
|
|
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
|
|
|
|
NM_004168.4(SDHA):c.1620C>T (p.Ser540=)
|
|
|
|
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)
|
rs1736791200
|
|
|
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
|
|
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
|
NM_004168.4(SDHA):c.1626C>G (p.Leu542=)
|
|
|
|
NM_004168.4(SDHA):c.1626C>T (p.Leu542=)
|
rs1269358534
|
|
|
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)
|
rs2126632293
|
|
|
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)
|
rs1736792773
|
|
|
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)
|
rs1736792773
|
|
|
NM_004168.4(SDHA):c.1638A>C (p.Leu546=)
|
rs1041963
|
|
|
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
|
|
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
|
NM_004168.4(SDHA):c.1641G>A (p.Lys547=)
|
|
|
|
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
|
|
|
|
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val)
|
rs1554001867
|
|
|
NM_004168.4(SDHA):c.1645C>T (p.Leu549=)
|
|
|
|
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
|
rs1579438155
|
|
|
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)
|
rs1400219619
|
|
|
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)
|
rs2126542365
|
|
|
NM_004168.4(SDHA):c.1650G>A (p.Lys550=)
|
rs1359705251
|
|
|
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)
|
rs1200051286
|
|
|
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)
|
rs1736795269
|
|
|
NM_004168.4(SDHA):c.1656del (p.Phe552fs)
|
rs1736795573
|
|
|
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)
|
rs1060503723
|
|
|
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)
|
rs2126632404
|
|
|
NM_004168.4(SDHA):c.1659C>T (p.Asp553=)
|
|
|
|
NM_004168.4(SDHA):c.1660C>A (p.Arg554=)
|
rs9809219
|
|
|
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
|
|
|
|
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)
|
rs376391115
|
|
|
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)
|
rs1579438241
|
|
|
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
|
rs1579438241
|
|
|
NM_004168.4(SDHA):c.1663+10C>G
|
|
|
|
NM_004168.4(SDHA):c.1663+11A>C
|
rs1037190778
|
|
|
NM_004168.4(SDHA):c.1663+12G>A
|
|
|
|
NM_004168.4(SDHA):c.1663+16G>C
|
|
|
|
NM_004168.4(SDHA):c.1663+16G>T
|
|
|
|
NM_004168.4(SDHA):c.1663+17C>T
|
rs759291109
|
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
|
NM_004168.4(SDHA):c.1663+1G>C
|
|
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
|
NM_004168.4(SDHA):c.1663+6C>G
|
rs1736797323
|
|
|
NM_004168.4(SDHA):c.1663+7A>G
|
rs1579438260
|
|
|
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)
|
rs1392860800
|
|
|
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)
|
rs1392860800
|
|
|
NM_004168.4(SDHA):c.1664-10G>T
|
rs1736810726
|
|
|
NM_004168.4(SDHA):c.1664-11del
|
rs1561010692
|
|
|
NM_004168.4(SDHA):c.1664-16_1666del
|
|
|
|
NM_004168.4(SDHA):c.1664-19G>A
|
rs2126633052
|
|
|
NM_004168.4(SDHA):c.1664-1G>A
|
|
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
|
NM_004168.4(SDHA):c.1664-3C>T
|
|
|
|
NM_004168.4(SDHA):c.1664-4C>A
|
rs774876028
|
|
|
NM_004168.4(SDHA):c.1664-4C>G
|
rs774876028
|
|
|
NM_004168.4(SDHA):c.1664-4C>T
|
|
|
|
NM_004168.4(SDHA):c.1664-5C>G
|
rs1211852182
|
|
|
NM_004168.4(SDHA):c.1664-9dup
|
rs2126633086
|
|
|
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
|
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs)
|
|
|
|
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)
|
rs1579438769
|
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
|
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)
|
rs2126633148
|
|
|
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
|
|
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
|
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
|
|
|
|
NM_004168.4(SDHA):c.1671C>G (p.Val557=)
|
|
|
|
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)
|
rs1561010726
|
|
|
NM_004168.4(SDHA):c.1677C>T (p.Asn559=)
|
rs2126633167
|
|
|
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)
|
rs1269114291
|
|
|
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
|
|
|
|
NM_004168.4(SDHA):c.1680G>T (p.Thr560=)
|
rs1139449
|
|
|
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1684C>T (p.Leu562=)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)
|
rs1736814018
|
|
|
NM_004168.4(SDHA):c.1686G>C (p.Leu562=)
|
rs1579438828
|
|
|
NM_004168.4(SDHA):c.1686G>T (p.Leu562=)
|
rs1579438828
|
|
|
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu)
|
rs1736814459
|
|
|
NM_004168.4(SDHA):c.1689G>A (p.Val563=)
|
rs2126633222
|
|
|
NM_004168.4(SDHA):c.168A>G (p.Pro56=)
|
rs745316978
|
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
|
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)
|
rs763529675
|
|
|
NM_004168.4(SDHA):c.1692G>A (p.Glu564=)
|
rs368388954
|
|
|
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)
|
rs368388954
|
|
|
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)
|
rs757176672
|
|
|
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
|
rs1579438883
|
|
|
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)
|
rs1736816371
|
|
|
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)
|
rs1060503724
|
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
|
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)
|
rs1352756438
|
|
|
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)
|
rs1554001912
|
|
|
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
|
|
|
|
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
|
|
|
|
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)
|
rs1561010778
|
|
|
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
|
|
|
|
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)
|
rs1734883606
|
|
|
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
|
|
|
|
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)
|
rs1377424433
|
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
|
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)
|
rs1554001925
|
|
|
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)
|
rs1554001925
|
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
|
NM_004168.4(SDHA):c.1719G>T (p.Leu573=)
|
|
|
|
NM_004168.4(SDHA):c.171dup (p.Val58fs)
|
rs1553997323
|
|
|
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)
|
rs2126633379
|
|
|
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)
|
rs1301370839
|
|
|
NM_004168.4(SDHA):c.1725G>T (p.Ala575=)
|
rs758252610
|
|
|
NM_004168.4(SDHA):c.1728G>A (p.Leu576=)
|
rs1736819188
|
|
|
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
|
|
|
|
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)
|
rs1349207461
|
|
|
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)
|
rs1349207461
|
|
|
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)
|
rs1042052
|
|
|
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
|
rs1323205068
|
|
|
NM_004168.4(SDHA):c.1737C>A (p.Ile579=)
|
|
|
|
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
|
|
|
|
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)
|
rs1042056
|
|
|
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
|
|
|
|
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)
|
rs2126542426
|
|
|
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
|
|
|
|
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
|
|
|
|
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)
|
rs2126633505
|
|
|
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)
|
rs1736821952
|
|
|
NM_004168.4(SDHA):c.1746A>T (p.Ala582=)
|
|
|
|
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
|
|
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
|
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
|
|
|
|
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)
|
rs1736823607
|
|
|
NM_004168.4(SDHA):c.1758G>A (p.Lys586=)
|
rs1554001953
|
|
|
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)
|
rs1554001954
|
|
|
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
|
|
|
|
NM_004168.4(SDHA):c.1761G>A (p.Glu587=)
|
rs2126633619
|
|
|
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
|
rs1579439198
|
|
|
NM_004168.4(SDHA):c.1764A>G (p.Ser588=)
|
rs2126633642
|
|
|
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)
|
rs2126633648
|
|
|
NM_004168.4(SDHA):c.1765C>A (p.Arg589=)
|
rs387906780
|
|
|
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)
|
rs387906780
|
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
|
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)
|
rs1736825032
|
|
|
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)
|
rs2126633698
|
|
|
NM_004168.4(SDHA):c.1769del (p.Gly590fs)
|
rs1554001958
|
|
|
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)
|
rs775449731
|
|
|
NM_004168.4(SDHA):c.1770C>A (p.Gly590=)
|
rs142457602
|
|
|
NM_004168.4(SDHA):c.1770C>G (p.Gly590=)
|
rs142457602
|
|
|
NM_004168.4(SDHA):c.1773G>C (p.Ala591=)
|
rs555028212
|
|
|
NM_004168.4(SDHA):c.1773G>T (p.Ala591=)
|
|
|
|
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs)
|
rs1561010948
|
|
|
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
|
rs1579439269
|
|
|
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
|
rs1579439269
|
|
|
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)
|
rs1554001966
|
|
|
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
|
rs1126538
|
|
|
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)
|
rs1736827311
|
|
|
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)
|
rs1736827451
|
|
|
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)
|
rs1736827451
|
|
|
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
|
|
|
|
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
|
|
|
|
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
|
|
|
|
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
|
|
|
|
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)
|
rs371304688
|
|
|
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)
|
rs371304688
|
|
|
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
|
|
|
|
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)
|
rs1060503721
|
|
|
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
|
|
|
|
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)
|
rs1736828708
|
|
|
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)
|
rs1736828708
|
|
|
NM_004168.4(SDHA):c.1791C>T (p.Tyr597=)
|
rs1226155499
|
|
|
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)
|
rs2126633857
|
|
|
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
|
rs1579439363
|
|
|
NM_004168.4(SDHA):c.1794+10C>T
|
rs1060505010
|
|
|
NM_004168.4(SDHA):c.1794+11T>C
|
|
|
|
NM_004168.4(SDHA):c.1794+14C>G
|
rs1412436993
|
|
|
NM_004168.4(SDHA):c.1794+15C>T
|
|
|
|
NM_004168.4(SDHA):c.1794+18G>T
|
|
|
|
NM_004168.4(SDHA):c.1794+1G>A
|
rs876659595
|
|
|
NM_004168.4(SDHA):c.1794+20C>A
|
rs2126633960
|
|
|
NM_004168.4(SDHA):c.1794+3G>A
|
rs375883981
|
|
|
NM_004168.4(SDHA):c.1794+4G>A
|
|
|
|
NM_004168.4(SDHA):c.1794+4G>T
|
|
|
|
NM_004168.4(SDHA):c.1794+5G>A
|
|
|
|
NM_004168.4(SDHA):c.1794+5G>C
|
rs1205244370
|
|
|
NM_004168.4(SDHA):c.1794+6C>T
|
|
|
|
NM_004168.4(SDHA):c.1794+6_1794+7dup
|
|
|
|
NM_004168.4(SDHA):c.1794+7C>T
|
|
|
|
NM_004168.4(SDHA):c.1794+8T>G
|
rs1050394308
|
|
|
NM_004168.4(SDHA):c.1794G>A (p.Lys598=)
|
rs1554001975
|
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
|
NM_004168.4(SDHA):c.1795-5C>T
|
rs1169912956
|
|
|
NM_004168.4(SDHA):c.1795-6C>A
|
rs756792828
|
|
|
NM_004168.4(SDHA):c.1797G>A (p.Val599=)
|
rs1060505012
|
|
|
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)
|
rs187964306
|
|
|
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)
|
rs187964306
|
|
|
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
|
|
|
|
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)
|
rs1737043619
|
|
|
NM_004168.4(SDHA):c.1806T>C (p.Asp602=)
|
rs1554002427
|
|
|
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)
|
rs1737044250
|
|
|
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)
|
rs1737044552
|
|
|
NM_004168.4(SDHA):c.1812C>T (p.Tyr604=)
|
rs1436919553
|
|
|
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)
|
rs771593214
|
|
|
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)
|
rs17400614
|
|
|
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
|
|
|
|
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)
|
rs1734884330
|
|
|
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)
|
rs1737046014
|
|
|
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)
|
rs2126641323
|
|
|
NM_004168.4(SDHA):c.1827C>T (p.Pro609=)
|
rs1060505006
|
|
|
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)
|
rs1554002446
|
|
|
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
|
rs1209697697
|
|
|
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)
|
rs1737046877
|
|
|
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)
|
rs1737047578
|
|
|
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)
|
rs1057523336
|
|
|
NM_004168.4(SDHA):c.1842G>A (p.Gln614=)
|
rs2126641413
|
|
|
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)
|
rs1737048556
|
|
|
NM_004168.4(SDHA):c.1845G>A (p.Lys615=)
|
rs1442827207
|
|
|
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)
|
rs1453752069
|
|
|
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
|
|
|
|
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)
|
rs1199988395
|
|
|
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)
|
rs1485754812
|
|
|
NM_004168.4(SDHA):c.1857G>A (p.Glu619=)
|
rs1247081812
|
|
|
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
|
rs1554002475
|
|
|
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)
|
rs1737050290
|
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
|
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
|
rs1579445190
|
|
|
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)
|
rs1554002483
|
|
|
NM_004168.4(SDHA):c.1875C>T (p.His625=)
|
rs1579445214
|
|
|
NM_004168.4(SDHA):c.1878C>T (p.Thr626=)
|
rs1579445226
|
|
|
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)
|
rs1737051659
|
|
|
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
|
rs1579445237
|
|
|
NM_004168.4(SDHA):c.1884C>G (p.Ser628=)
|
rs1224468457
|
|
|
NM_004168.4(SDHA):c.1884C>T (p.Ser628=)
|
rs1224468457
|
|
|
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)
|
rs1579445293
|
|
|
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)
|
rs6960
|
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
|
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)
|
rs1553997327
|
|
|
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)
|
rs1553997327
|
|
|
NM_004168.4(SDHA):c.1890G>A (p.Val630=)
|
rs1405784467
|
|
|
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)
|
rs776500078
|
|
|
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)
|
rs1364764796
|
|
|
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)
|
rs369639811
|
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
|
NM_004168.4(SDHA):c.1896T>C (p.Val632=)
|
rs1554002492
|
|
|
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)
|
rs2126641674
|
|
|
NM_004168.4(SDHA):c.189T>C (p.Asp63=)
|
rs2126542493
|
|
|
NM_004168.4(SDHA):c.18C>A (p.Gly6=)
|
rs775847689
|
|
|
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala)
|
rs1017441235
|
|
|
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)
|
rs1017441235
|
|
|
NM_004168.4(SDHA):c.1902T>G (p.Thr634=)
|
rs2126641691
|
|
|
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)
|
rs1737055056
|
|
|
NM_004168.4(SDHA):c.1908+10G>A
|
rs1579445450
|
|
|
NM_004168.4(SDHA):c.1908+2T>C
|
rs1737056056
|
|
|
NM_004168.4(SDHA):c.1908+8T>G
|
rs2126641731
|
|
|
NM_004168.4(SDHA):c.1908+9G>A
|
rs767578208
|
|
|
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)
|
rs1244151760
|
|
|
NM_004168.4(SDHA):c.1909-11T>G
|
rs2126645679
|
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
|
NM_004168.4(SDHA):c.1909-15A>C
|
rs1189118840
|
|
|
NM_004168.4(SDHA):c.1909-15A>G
|
|
|
|
NM_004168.4(SDHA):c.1909-16G>A
|
|
|
|
NM_004168.4(SDHA):c.1909-16_1909-13del
|
rs2126645630
|
|
|
NM_004168.4(SDHA):c.1909-19A>T
|
|
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
|
NM_004168.4(SDHA):c.1909-20C>A
|
rs1737178548
|
|
|
NM_004168.4(SDHA):c.1909-3A>G
|
|
|
|
NM_004168.4(SDHA):c.1909-5T>G
|
rs1197849830
|
|
|
NM_004168.4(SDHA):c.1909-6T>C
|
|
|
|
NM_004168.4(SDHA):c.1909-8_1909-4del
|
rs1737179400
|
|
|
NM_004168.4(SDHA):c.1909-9C>G
|
|
|
|
NM_004168.4(SDHA):c.1909-9C>T
|
rs2126645687
|
|
|
NM_004168.4(SDHA):c.1909-9_1909-7del
|
|
|
|
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)
|
rs769599373
|
|
|
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)
|
rs1734884655
|
|
|
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)
|
rs1737179959
|
|
|
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)
|
rs370133236
|
|
|
NM_004168.4(SDHA):c.1913del (p.Thr638fs)
|
rs1554002857
|
|
|
NM_004168.4(SDHA):c.1914T>C (p.Thr638=)
|
rs2126645757
|
|
|
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
|
|
|
|
NM_004168.4(SDHA):c.1920A>G (p.Glu640=)
|
rs2126645771
|
|
|
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
|
|
|
|
NM_004168.4(SDHA):c.1926A>G (p.Arg642=)
|
rs1554002873
|
|
|
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)
|
rs1579448568
|
|
|
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
|
rs1579448568
|
|
|
NM_004168.4(SDHA):c.192A>G (p.Ala64=)
|
|
|
|
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
|
|
|
|
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
|
|
|
|
NM_004168.4(SDHA):c.1935C>A (p.Ile645=)
|
rs762128553
|
|
|
NM_004168.4(SDHA):c.1935C>T (p.Ile645=)
|
rs762128553
|
|
|
NM_004168.4(SDHA):c.1938C>T (p.Asp646=)
|
|
|
|
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
|
|
|
|
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)
|
rs1737186768
|
|
|
NM_004168.4(SDHA):c.1943del (p.Thr648fs)
|
rs2126645882
|
|
|
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)
|
rs1737187966
|
|
|
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
|
|
|
|
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)
|
rs899598021
|
|
|
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
|
|
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
|
NM_004168.4(SDHA):c.1951del (p.Glu651fs)
|
rs1561016316
|
|
|
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)
|
rs1737189246
|
|
|
NM_004168.4(SDHA):c.1953G>A (p.Glu651=)
|
rs1579448683
|
|
|
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)
|
rs1579448683
|
|
|
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)
|
rs1737189728
|
|
|
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)
|
rs1554002888
|
|
|
NM_004168.4(SDHA):c.1956T>C (p.Ala652=)
|
|
|
|
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)
|
rs1737190360
|
|
|
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
|
|
|
|
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)
|
rs1737190360
|
|
|
NM_004168.4(SDHA):c.1959C>T (p.Asp653=)
|
|
|
|
NM_004168.4(SDHA):c.195G>A (p.Val65=)
|
rs2126542556
|
|
|
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
|
|
|
|
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)
|
rs1554002895
|
|
|
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)
|
rs2126645995
|
|
|
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
|
|
|
|
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
|
|
|
|
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
|
|
|
|
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)
|
rs2126646066
|
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
|
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
|
|
|
|
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)
|
rs768693502
|
|
|
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
|
rs191412461
|
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
|
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)
|
rs1737195067
|
|
|
NM_004168.4(SDHA):c.1986C>G (p.Arg662=)
|
rs762372686
|
|
|
NM_004168.4(SDHA):c.1986C>T (p.Arg662=)
|
|
|
|
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)
|
rs1060503719
|
|
|
NM_004168.4(SDHA):c.1989C>G (p.Ser663=)
|
rs1554002913
|
|
|
NM_004168.4(SDHA):c.1989C>T (p.Ser663=)
|
rs1554002913
|
|
|
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
|
|
|
|
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
|
|
|
|
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)
|
rs760964443
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
|
NM_004168.4(SDHA):c.1del (p.Met1fs)
|
rs1085307796
|
|
|
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
|
|
|
|
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
|
|
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
|
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
|
|
|
|
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)
|
rs2126542624
|
|
|
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)
|
rs1734500083
|
|
|
NM_004168.4(SDHA):c.210A>G (p.Gly70=)
|
|
|
|
NM_004168.4(SDHA):c.210dup (p.Gly71fs)
|
rs1553997340
|
|
|
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)
|
rs1734887299
|
|
|
NM_004168.4(SDHA):c.214dup (p.Ala72fs)
|
rs1734887425
|
|
|
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)
|
rs1204881025
|
|
|
NM_004168.4(SDHA):c.216A>G (p.Ala72=)
|
rs1734887844
|
|
|
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
|
|
|
|
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)
|
rs1553997347
|
|
|
NM_004168.4(SDHA):c.220T>C (p.Leu74=)
|
|
|
|
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)
|
rs763220651
|
|
|
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
|
|
|
|
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
|
|
|
|
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)
|
rs1734888838
|
|
|
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)
|
rs768328967
|
|
|
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
|
|
|
|
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)
|
rs759568419
|
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
|
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)
|
rs878854631
|
|
|
NM_004168.4(SDHA):c.240T>C (p.Leu80=)
|
rs2126542884
|
|
|
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)
|
rs1553997357
|
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
|
NM_004168.4(SDHA):c.243T>C (p.Ser81=)
|
|
|
|
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter)
|
|
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
|
NM_004168.4(SDHA):c.249A>C (p.Ala83=)
|
|
|
|
NM_004168.4(SDHA):c.249A>G (p.Ala83=)
|
rs1560986107
|
|
|
NM_004168.4(SDHA):c.24G>C (p.Ser8=)
|
rs1060505007
|
|
|
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg)
|
rs2126542993
|
|
|
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
|
|
|
|
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)
|
rs199615452
|
|
|
NM_004168.4(SDHA):c.252G>A (p.Gly84=)
|
rs753293451
|
|
|
NM_004168.4(SDHA):c.252G>C (p.Gly84=)
|
rs753293451
|
|
|
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)
|
rs1560986132
|
|
|
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)
|
rs200519133
|
|
|
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)
|
rs2126543056
|
|
|
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)
|
rs776218604
|
|
|
NM_004168.4(SDHA):c.261A>C (p.Thr87=)
|
|
|
|
NM_004168.4(SDHA):c.261A>G (p.Thr87=)
|
rs2126543070
|
|
|
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)
|
rs2126543077
|
|
|
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
|
|
|
|
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)
|
rs1734891785
|
|
|
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)
|
rs1734891785
|
|
|
NM_004168.4(SDHA):c.264A>G (p.Ala88=)
|
|
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
|
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)
|
rs2126543120
|
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
|
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
|
rs761508577
|
|
|
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)
|
rs761508577
|
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
|
NM_004168.4(SDHA):c.273C>A (p.Thr91=)
|
rs2126543162
|
|
|
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)
|
rs1734892884
|
|
|
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)
|
rs778267118
|
|
|
NM_004168.4(SDHA):c.276G>A (p.Lys92=)
|
rs375298039
|
|
|
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)
|
rs375298039
|
|
|
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)
|
rs1326611328
|
|
|
NM_004168.4(SDHA):c.279G>A (p.Leu93=)
|
rs1579381802
|
|
|
NM_004168.4(SDHA):c.27G>A (p.Arg9=)
|
rs2126522501
|
|
|
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
|
|
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
|
NM_004168.4(SDHA):c.285T>C (p.Pro95=)
|
rs2126543225
|
|
|
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_004168.4(SDHA):c.28C>T (p.Leu10=)
|
rs879099314
|
|
|
NM_004168.4(SDHA):c.28del (p.Leu10fs)
|
rs1579369841
|
|
|
NM_004168.4(SDHA):c.291G>A (p.Arg97=)
|
|
|
|
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
|
rs1579381851
|
|
|
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
|
rs1579381882
|
|
|
NM_004168.4(SDHA):c.297C>T (p.His99=)
|
|
|
|
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)
|
rs2126543272
|
|
|
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)
|
rs2126522536
|
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
|
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
|
|
|
|
NM_004168.4(SDHA):c.303T>C (p.Val101=)
|
|
|
|
NM_004168.4(SDHA):c.303T>G (p.Val101=)
|
rs2126543357
|
|
|
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
|
|
|
|
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)
|
rs1734896344
|
|
|
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
|
|
|
|
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)
|
rs1240528592
|
|
|
NM_004168.4(SDHA):c.306A>G (p.Ala102=)
|
rs2126543388
|
|
|
NM_004168.4(SDHA):c.306A>T (p.Ala102=)
|
rs2126543388
|
|
|
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr)
|
rs1553997389
|
|
|
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
|
|
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
|
NM_004168.4(SDHA):c.312+11G>C
|
rs2126543478
|
|
|
NM_004168.4(SDHA):c.312+12G>T
|
|
|
|
NM_004168.4(SDHA):c.312+15C>A
|
rs1180146041
|
|
|
NM_004168.4(SDHA):c.312+16C>G
|
|
|
|
NM_004168.4(SDHA):c.312+17C>T
|
rs1734898561
|
|
|
NM_004168.4(SDHA):c.312+18C>T
|
|
|
|
NM_004168.4(SDHA):c.312+19A>G
|
|
|
|
NM_004168.4(SDHA):c.312+19A>T
|
|
|
|
NM_004168.4(SDHA):c.312+1G>A
|
rs2126543441
|
|
|
NM_004168.4(SDHA):c.312+20C>A
|
rs111533078
|
|
|
NM_004168.4(SDHA):c.312+4A>C
|
|
|
|
NM_004168.4(SDHA):c.312+5G>C
|
|
|
|
NM_004168.4(SDHA):c.312+7G>C
|
rs2126543454
|
|
|
NM_004168.4(SDHA):c.312+7G>T
|
rs2126543454
|
|
|
NM_004168.4(SDHA):c.312G>A (p.Gln104=)
|
rs2126543437
|
|
|
NM_004168.4(SDHA):c.313-10G>A
|
rs1579383848
|
|
|
NM_004168.4(SDHA):c.313-11G>A
|
rs1734951831
|
|
|
NM_004168.4(SDHA):c.313-12del
|
|
|
|
NM_004168.4(SDHA):c.313-13T>C
|
|
|
|
NM_004168.4(SDHA):c.313-18A>C
|
rs1579383789
|
|
|
NM_004168.4(SDHA):c.313-3C>T
|
rs1553997584
|
|
|
NM_004168.4(SDHA):c.313-4C>G
|
rs1368657380
|
|
|
NM_004168.4(SDHA):c.313-4C>T
|
rs1368657380
|
|
|
NM_004168.4(SDHA):c.313-6T>C
|
rs1579383890
|
|
|
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg)
|
rs2126546583
|
|
|
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)
|
rs1734953252
|
|
|
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
|
rs1579383936
|
|
|
NM_004168.4(SDHA):c.318A>T (p.Gly106=)
|
|
|
|
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)
|
rs1060503720
|
|
|
NM_004168.4(SDHA):c.31C>T (p.Leu11=)
|
|
|
|
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)
|
rs1734953616
|
|
|
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)
|
rs1734953616
|
|
|
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)
|
rs1734953765
|
|
|
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
|
|
|
|
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)
|
rs2126546657
|
|
|
NM_004168.4(SDHA):c.324dup (p.Ala109fs)
|
|
|
|
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
|
|
|
|
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)
|
rs1139422
|
|
|
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
|
|
|
|
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)
|
rs751114575
|
|
|
NM_004168.4(SDHA):c.336G>A (p.Gly112=)
|
|
|
|
NM_004168.4(SDHA):c.336G>C (p.Gly112=)
|
rs375645919
|
|
|
NM_004168.4(SDHA):c.336del (p.Asn113fs)
|
|
|
|
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)
|
rs1450249875
|
|
|
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.339C>T (p.Asn113=)
|
|
|
|
NM_004168.4(SDHA):c.33G>T (p.Leu11=)
|
rs1139423
|
|
|
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
|
|
|
|
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)
|
rs1734955897
|
|
|
NM_004168.4(SDHA):c.345G>A (p.Glu115=)
|
rs368286780
|
|
|
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)
|
rs368286780
|
|
|
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
|
|
|
|
NM_004168.4(SDHA):c.348G>A (p.Glu116=)
|
rs2126546824
|
|
|
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)
|
rs2126546832
|
|
|
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)
|
rs1734501874
|
|
|
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
|
rs1579384062
|
|
|
NM_004168.4(SDHA):c.351C>T (p.Asp117=)
|
rs1579384072
|
|
|
NM_004168.4(SDHA):c.351del (p.Asp117fs)
|
|
|
|
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)
|
rs987288514
|
|
|
NM_004168.4(SDHA):c.354C>T (p.Asn118=)
|
rs923803277
|
|
|
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)
|
rs1734957208
|
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
|
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)
|
rs2126546923
|
|
|
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
|
|
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
|
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
|
|
|
|
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)
|
rs1579384137
|
|
|
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)
|
rs1734502045
|
|
|
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)
|
rs2126546996
|
|
|
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
|
|
|
|
NM_004168.4(SDHA):c.373G>C (p.Asp125His)
|
rs780654623
|
|
|
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
|
|
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
|
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
|
|
|
|
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)
|
rs2126547166
|
|
|
NM_004168.4(SDHA):c.387C>T (p.Gly129=)
|
|
|
|
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)
|
rs1553997625
|
|
|
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
|
|
|
|
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)
|
rs2126547239
|
|
|
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)
|
rs2126547233
|
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
|
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)
|
rs2126547261
|
|
|
NM_004168.4(SDHA):c.397C>T (p.Leu133=)
|
rs2126547261
|
|
|
NM_004168.4(SDHA):c.39T>C (p.Ala13=)
|
rs2126522607
|
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
|
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)
|
rs2126522051
|
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
|
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
|
|
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
|
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)
|
rs1365359024
|
|
|
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)
|
rs876660259
|
|
|
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)
|
rs1734961262
|
|
|
NM_004168.4(SDHA):c.40C>A (p.Arg14=)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
|
|
|
|
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)
|
rs1444399160
|
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
|
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
|
|
|
|
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
|
|
|
|
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)
|
rs1342456775
|
|
|
NM_004168.4(SDHA):c.414C>T (p.Ala138=)
|
rs1219265195
|
|
|
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
|
|
|
|
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
|
|
|
|
NM_004168.4(SDHA):c.419A>G (p.His140Arg)
|
rs759266253
|
|
|
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
|
|
|
|
NM_004168.4(SDHA):c.420C>T (p.His140=)
|
rs747232441
|
|
|
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
|
rs1553997643
|
|
|
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)
|
rs1553997643
|
|
|
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)
|
rs776848209
|
|
|
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)
|
rs2126547518
|
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
|
NM_004168.4(SDHA):c.429G>T (p.Thr143=)
|
rs906281170
|
|
|
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
|
|
|
|
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
|
|
|
|
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
|
|
|
|
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
|
|
|
|
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)
|
rs1060503714
|
|
|
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
|
rs763191656
|
|
|
NM_004168.4(SDHA):c.441C>A (p.Pro147=)
|
rs201453889
|
|
|
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)
|
rs375576259
|
|
|
NM_004168.4(SDHA):c.444C>G (p.Ala148=)
|
rs367618662
|
|
|
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)
|
rs1060503709
|
|
|
NM_004168.4(SDHA):c.447C>A (p.Ala149=)
|
|
|
|
NM_004168.4(SDHA):c.447C>G (p.Ala149=)
|
rs752187837
|
|
|
NM_004168.4(SDHA):c.447del (p.Val150fs)
|
rs2126547751
|
|
|
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)
|
rs1060503707
|
|
|
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
|
|
|
|
NM_004168.4(SDHA):c.450G>A (p.Val150=)
|
rs1734965281
|
|
|
NM_004168.4(SDHA):c.450G>C (p.Val150=)
|
|
|
|
NM_004168.4(SDHA):c.453C>G (p.Val151=)
|
rs138917116
|
|
|
NM_004168.4(SDHA):c.453C>T (p.Val151=)
|
rs138917116
|
|
|
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln)
|
rs778737664
|
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
|
NM_004168.4(SDHA):c.456+11G>A
|
|
|
|
NM_004168.4(SDHA):c.456+12G>C
|
|
|
|
NM_004168.4(SDHA):c.456+14G>A
|
|
|
|
NM_004168.4(SDHA):c.456+15G>A
|
rs2126547940
|
|
|
NM_004168.4(SDHA):c.456+15G>T
|
|
|
|
NM_004168.4(SDHA):c.456+17T>G
|
|
|
|
NM_004168.4(SDHA):c.456+18C>T
|
|
|
|
NM_004168.4(SDHA):c.456+19T>C
|
rs2126547979
|
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
|
NM_004168.4(SDHA):c.456+20G>A
|
|
|
|
NM_004168.4(SDHA):c.456+3G>T
|
rs1362754028
|
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
|
NM_004168.4(SDHA):c.456+4A>T
|
|
|
|
NM_004168.4(SDHA):c.456+4del
|
|
|
|
NM_004168.4(SDHA):c.456+6G>C
|
|
|
|
NM_004168.4(SDHA):c.456+7G>A
|
|
|
|
NM_004168.4(SDHA):c.456+8G>A
|
rs2126547879
|
|
|
NM_004168.4(SDHA):c.456+9C>G
|
rs200565489
|
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
|
NM_004168.4(SDHA):c.457-10T>C
|
|
|
|
NM_004168.4(SDHA):c.457-11A>T
|
|
|
|
NM_004168.4(SDHA):c.457-12del
|
rs2126549133
|
|
|
NM_004168.4(SDHA):c.457-15T>C
|
|
|
|
NM_004168.4(SDHA):c.457-17G>T
|
|
|
|
NM_004168.4(SDHA):c.457-18_457-3dup
|
rs1421256041
|
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
|
NM_004168.4(SDHA):c.457-2A>G
|
rs2126549179
|
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
|
NM_004168.4(SDHA):c.457-3C>T
|
|
|
|
NM_004168.4(SDHA):c.457-4A>T
|
|
|
|
NM_004168.4(SDHA):c.457-9C>T
|
rs2126549145
|
|
|
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
|
|
|
|
NM_004168.4(SDHA):c.459A>G (p.Leu153=)
|
rs2126549200
|
|
|
NM_004168.4(SDHA):c.45C>T (p.Arg15=)
|
rs1060505002
|
|
|
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys)
|
rs1560987595
|
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
|
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
|
|
|
|
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
|
|
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
|
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
|
|
|
|
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)
|
rs774589410
|
|
|
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)
|
rs2126549281
|
|
|
NM_004168.4(SDHA):c.468T>C (p.Tyr156=)
|
rs989318548
|
|
|
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)
|
rs989318548
|
|
|
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)
|
rs1734987233
|
|
|
NM_004168.4(SDHA):c.46C>T (p.Leu16=)
|
rs1579369903
|
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
|
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
|
|
|
|
NM_004168.4(SDHA):c.472A>G (p.Met158Val)
|
rs2126549328
|
|
|
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
|
|
|
|
NM_004168.4(SDHA):c.477G>T (p.Pro159=)
|
rs771741537
|
|
|
NM_004168.4(SDHA):c.480T>C (p.Phe160=)
|
rs1060503711
|
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
|
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)
|
rs2126549411
|
|
|
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
|
|
|
|
NM_004168.4(SDHA):c.483C>T (p.Ser161=)
|
rs2126549418
|
|
|
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)
|
rs1579385526
|
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
|
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
|
rs1579385540
|
|
|
NM_004168.4(SDHA):c.486A>G (p.Arg162=)
|
rs1479127918
|
|
|
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)
|
rs375067326
|
|
|
NM_004168.4(SDHA):c.48G>A (p.Leu16=)
|
rs2126522691
|
|
|
NM_004168.4(SDHA):c.48G>C (p.Leu16=)
|
rs2126522691
|
|
|
NM_004168.4(SDHA):c.492A>G (p.Glu164=)
|
|
|
|
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly)
|
rs1734989377
|
|
|
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
|
|
|
|
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)
|
rs1060503712
|
|
|
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
|
|
|
|
NM_004168.4(SDHA):c.498G>A (p.Gly166=)
|
|
|
|
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
|
rs1579385582
|
|
|
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
|
|
|
|
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)
|
rs758327622
|
|
|
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)
|
rs758327622
|
|
|
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)
|
rs1734989945
|
|
|
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)
|
rs1553997748
|
|
|
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)
|
rs1553997754
|
|
|
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
|
|
|
|
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
|
|
|
|
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)
|
rs1579385645
|
|
|
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)
|
rs1579385645
|
|
|
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
|
|
|
|
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)
|
rs2126549625
|
|
|
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
|
|
|
|
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
|
rs1579385651
|
|
|
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
|
|
|
|
NM_004168.4(SDHA):c.513T>A (p.Arg171=)
|
|
|
|
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)
|
rs1734991441
|
|
|
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
|
|
|
|
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
|
|
|
|
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)
|
rs1734991593
|
|
|
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
|
rs753004001
|
|
|
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)
|
rs753004001
|
|
|
NM_004168.4(SDHA):c.525A>G (p.Gly175=)
|
rs2126549734
|
|
|
NM_004168.4(SDHA):c.528G>C (p.Gln176His)
|
rs769454045
|
|
|
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)
|
rs1553996372
|
|
|
NM_004168.4(SDHA):c.52C>T (p.Leu18=)
|
|
|
|
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)
|
rs1553997783
|
|
|
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
|
|
|
|
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
|
|
|
|
NM_004168.4(SDHA):c.531C>T (p.Ser177=)
|
rs756351128
|
|
|
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
|
|
|
|
NM_004168.4(SDHA):c.537G>A (p.Lys179=)
|
rs1207914111
|
|
|
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
|
|
|
|
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
|
|
|
|
NM_004168.4(SDHA):c.540T>C (p.Phe180=)
|
rs2126549842
|
|
|
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
|
|
|
|
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)
|
rs1734993975
|
|
|
NM_004168.4(SDHA):c.54G>A (p.Leu18=)
|
|
|
|
NM_004168.4(SDHA):c.54G>T (p.Leu18=)
|
|
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
|
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)
|
rs1579385819
|
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
|
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
|
|
|
|
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)
|
rs2126550013
|
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
|
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)
|
rs1560980986
|
|
|
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs)
|
|
|
|
NM_004168.4(SDHA):c.562C>A (p.Arg188=)
|
rs553257776
|
|
|
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)
|
rs1734996495
|
|
|
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)
|
rs908267345
|
|
|
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)
|
rs2126522773
|
|
|
NM_004168.4(SDHA):c.570C>T (p.Cys190=)
|
rs1060505008
|
|
|
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)
|
rs2126550176
|
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
|
NM_004168.4(SDHA):c.573T>C (p.Cys191=)
|
rs765111856
|
|
|
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)
|
rs1734997662
|
|
|
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)
|
rs1734997662
|
|
|
NM_004168.4(SDHA):c.57C>T (p.Ala19=)
|
|
|
|
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
|
|
|
|
NM_004168.4(SDHA):c.582T>C (p.Asp194=)
|
|
|
|
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)
|
rs1337777456
|
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
|
NM_004168.4(SDHA):c.585G>A (p.Arg195=)
|
rs766339992
|
|
|
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
|
|
|
|
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)
|
rs1560987863
|
|
|
NM_004168.4(SDHA):c.588T>C (p.Thr196=)
|
rs1278276778
|
|
|
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)
|
rs1560987881
|
|
|
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)
|
rs1560987881
|
|
|
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)
|
rs1734504263
|
|
|
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
|
rs1579386052
|
|
|
NM_004168.4(SDHA):c.591C>G (p.Gly197=)
|
|
|
|
NM_004168.4(SDHA):c.594C>T (p.His198=)
|
rs1579386061
|
|
|
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
|
|
|
|
NM_004168.4(SDHA):c.597G>T (p.Ser199=)
|
rs141874250
|
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
|
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)
|
rs780064103
|
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
|
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)
|
rs150646390
|
|
|
NM_004168.4(SDHA):c.603G>A (p.Leu201=)
|
rs2126550482
|
|
|
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
|
|
|
|
NM_004168.4(SDHA):c.606C>T (p.His202=)
|
|
|
|
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)
|
rs1735001122
|
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
|
NM_004168.4(SDHA):c.60G>A (p.Lys20=)
|
|
|
|
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
|
|
|
|
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
|
|
|
|
NM_004168.4(SDHA):c.612A>G (p.Leu204=)
|
rs1735001336
|
|
|
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
|
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
|
NM_004168.4(SDHA):c.615T>C (p.Tyr205=)
|
rs876658486
|
|
|
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)
|
rs6555055
|
|
|
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)
|
rs6555055
|
|
|
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)
|
rs1579386206
|
|
|
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)
|
rs2126550631
|
|
|
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)
|
rs1553996375
|
|
|
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)
|
rs780411478
|
|
|
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)
|
rs780411478
|
|
|
NM_004168.4(SDHA):c.621+11C>A
|
rs2126550755
|
|
|
NM_004168.4(SDHA):c.621+11C>T
|
|
|
|
NM_004168.4(SDHA):c.621+12C>A
|
|
|
|
NM_004168.4(SDHA):c.621+12C>T
|
|
|
|
NM_004168.4(SDHA):c.621+13C>T
|
rs2126550780
|
|
|
NM_004168.4(SDHA):c.621+15G>T
|
|
|
|
NM_004168.4(SDHA):c.621+17C>T
|
rs2126550811
|
|
|
NM_004168.4(SDHA):c.621+18C>G
|
|
|
|
NM_004168.4(SDHA):c.621+18C>T
|
rs1735004595
|
|
|
NM_004168.4(SDHA):c.621+19A>T
|
rs772849135
|
|
|
NM_004168.4(SDHA):c.621+1G>A
|
rs1735002961
|
|
|
NM_004168.4(SDHA):c.621+20C>T
|
|
|
|
NM_004168.4(SDHA):c.621+3A>G
|
|
|
|
NM_004168.4(SDHA):c.621+9G>C
|
|
|
|
NM_004168.4(SDHA):c.621G>A (p.Arg207=)
|
rs2126550683
|
|
|
NM_004168.4(SDHA):c.622-1G>A
|
rs1285132774
|
|
|
NM_004168.4(SDHA):c.622-4T>A
|
|
|
|
NM_004168.4(SDHA):c.622-4T>C
|
rs1579390820
|
|
|
NM_004168.4(SDHA):c.622-4T>G
|
|
|
|
NM_004168.4(SDHA):c.622-5T>C
|
rs878854634
|
|
|
NM_004168.4(SDHA):c.622-7C>G
|
|
|
|
NM_004168.4(SDHA):c.622-7C>T
|
rs759371428
|
|
|
NM_004168.4(SDHA):c.622-7_622-4del
|
rs2126557982
|
|
|
NM_004168.4(SDHA):c.622-8del
|
rs777777373
|
|
|
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
|
|
|
|
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
|
|
|
|
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)
|
rs1579390858
|
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
|
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)
|
rs2126522821
|
|
|
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)
|
rs2126522821
|
|
|
NM_004168.4(SDHA):c.63+10T>C
|
rs2126522948
|
|
|
NM_004168.4(SDHA):c.63+10T>G
|
|
|
|
NM_004168.4(SDHA):c.63+13C>G
|
|
|
|
NM_004168.4(SDHA):c.63+14G>A
|
rs2126522961
|
|
|
NM_004168.4(SDHA):c.63+15C>A
|
|
|
|
NM_004168.4(SDHA):c.63+16G>A
|
|
|
|
NM_004168.4(SDHA):c.63+17G>T
|
|
|
|
NM_004168.4(SDHA):c.63+18A>G
|
rs2126522991
|
|
|
NM_004168.4(SDHA):c.63+19C>A
|
rs1553996384
|
|
|
NM_004168.4(SDHA):c.63+1G>C
|
|
|
|
NM_004168.4(SDHA):c.63+20C>T
|
rs1734507324
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
|
NM_004168.4(SDHA):c.63+3G>A
|
|
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
|
NM_004168.4(SDHA):c.63+4A>G
|
|
|
|
NM_004168.4(SDHA):c.63+7C>A
|
|
|
|
NM_004168.4(SDHA):c.63+8C>A
|
rs766358430
|
|
|
NM_004168.4(SDHA):c.63+9G>A
|
rs751401688
|
|
|
NM_004168.4(SDHA):c.630A>G (p.Arg210=)
|
rs1579390913
|
|
|
NM_004168.4(SDHA):c.630A>T (p.Arg210=)
|
rs1579390913
|
|
|
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)
|
rs1235961098
|
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
|
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
|
|
|
|
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)
|
rs750531440
|
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
|
NM_004168.4(SDHA):c.637dup (p.Thr213fs)
|
|
|
|
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)
|
rs766421069
|
|
|
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)
|
rs766421069
|
|
|
NM_004168.4(SDHA):c.63G>A (p.Ala21=)
|
rs587781942
|
|
|
NM_004168.4(SDHA):c.63G>T (p.Ala21=)
|
rs587781942
|
|
|
NM_004168.4(SDHA):c.64-10G>A
|
rs1553997159
|
|
|
NM_004168.4(SDHA):c.64-10G>C
|
rs1553997159
|
|
|
NM_004168.4(SDHA):c.64-11T>C
|
rs2126539331
|
|
|
NM_004168.4(SDHA):c.64-12C>G
|
|
|
|
NM_004168.4(SDHA):c.64-13T>G
|
rs2126539312
|
|
|
NM_004168.4(SDHA):c.64-13_64-5del
|
rs1382759501
|
|
|
NM_004168.4(SDHA):c.64-16T>G
|
|
|
|
NM_004168.4(SDHA):c.64-17G>A
|
|
|
|
NM_004168.4(SDHA):c.64-2A>C
|
|
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
|
NM_004168.4(SDHA):c.64-4C>T
|
|
|
|
NM_004168.4(SDHA):c.64-7T>C
|
rs1579379588
|
|
|
NM_004168.4(SDHA):c.64-7T>G
|
rs1579379588
|
|
|
NM_004168.4(SDHA):c.64-8G>T
|
|
|
|
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)
|
rs1560989804
|
|
|
NM_004168.4(SDHA):c.645T>C (p.Tyr215=)
|
|
|
|
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)
|
rs1735162987
|
|
|
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)
|
rs1735163272
|
|
|
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)
|
rs2126539375
|
|
|
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)
|
rs1735163544
|
|
|
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
|
|
|
|
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
|
|
|
|
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)
|
rs2126539382
|
|
|
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)
|
rs1735163984
|
|
|
NM_004168.4(SDHA):c.663C>G (p.Ala221=)
|
rs1579391069
|
|
|
NM_004168.4(SDHA):c.663C>T (p.Ala221=)
|
rs1579391069
|
|
|
NM_004168.4(SDHA):c.664T>G (p.Leu222Val)
|
rs1553998191
|
|
|
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
|
|
|
|
NM_004168.4(SDHA):c.666G>A (p.Leu222=)
|
|
|
|
NM_004168.4(SDHA):c.667G>C (p.Asp223His)
|
rs1579391108
|
|
|
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
|
rs1579391108
|
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
|
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)
|
rs2126558436
|
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
|
NM_004168.4(SDHA):c.672C>T (p.Leu224=)
|
rs2126558458
|
|
|
NM_004168.4(SDHA):c.673C>T (p.Leu225=)
|
rs1579391116
|
|
|
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro)
|
rs2126558482
|
|
|
NM_004168.4(SDHA):c.675G>A (p.Leu225=)
|
rs1367248054
|
|
|
NM_004168.4(SDHA):c.675G>C (p.Leu225=)
|
rs1367248054
|
|
|
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)
|
rs1579391135
|
|
|
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
|
|
|
|
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)
|
rs1735165932
|
|
|
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
|
rs745884899
|
|
|
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
|
|
|
|
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)
|
rs2126558556
|
|
|
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)
|
rs2126558564
|
|
|
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
|
|
|
|
NM_004168.4(SDHA):c.687G>C (p.Gly229=)
|
rs775359678
|
|
|
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
|
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
|
NM_004168.4(SDHA):c.693C>T (p.Cys231=)
|
|
|
|
NM_004168.4(SDHA):c.695G>A (p.Arg232His)
|
rs1060503708
|
|
|
NM_004168.4(SDHA):c.696T>G (p.Arg232=)
|
|
|
|
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)
|
rs2126558729
|
|
|
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)
|
rs878854636
|
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
|
NM_004168.4(SDHA):c.699del (p.Val234fs)
|
rs1175771583
|
|
|
NM_004168.4(SDHA):c.6G>C (p.Ser2=)
|
rs751383247
|
|
|
NM_004168.4(SDHA):c.6G>T (p.Ser2=)
|
rs751383247
|
|
|
NM_004168.4(SDHA):c.700G>A (p.Val234Ile)
|
rs2126558764
|
|
|
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
|
|
|
|
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
|
rs1579379632
|
|
|
NM_004168.4(SDHA):c.711G>T (p.Leu237=)
|
|
|
|
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)
|
rs1579391373
|
|
|
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)
|
rs1168458733
|
|
|
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)
|
rs1168458733
|
|
|
NM_004168.4(SDHA):c.714C>T (p.Cys238=)
|
|
|
|
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)
|
rs760106352
|
|
|
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)
|
rs760106352
|
|
|
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)
|
rs1466069757
|
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
|
NM_004168.4(SDHA):c.717A>T (p.Ile239=)
|
|
|
|
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)
|
rs1041946
|
|
|
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
|
|
|
|
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
|
|
|
|
NM_004168.4(SDHA):c.720G>A (p.Glu240=)
|
rs1579391431
|
|
|
NM_004168.4(SDHA):c.720_722del (p.Glu240del)
|
rs1560990000
|
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
|
NM_004168.4(SDHA):c.726G>A (p.Gly242=)
|
rs2126559012
|
|
|
NM_004168.4(SDHA):c.726G>T (p.Gly242=)
|
|
|
|
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
|
|
|
|
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)
|
rs756966025
|
|
|
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)
|
rs756966025
|
|
|
NM_004168.4(SDHA):c.729C>G (p.Ser243=)
|
|
|
|
NM_004168.4(SDHA):c.72A>C (p.Thr24=)
|
rs2126539424
|
|
|
NM_004168.4(SDHA):c.72A>G (p.Thr24=)
|
rs2126539424
|
|
|
NM_004168.4(SDHA):c.733C>G (p.His245Asp)
|
rs1060503716
|
|
|
NM_004168.4(SDHA):c.734A>G (p.His245Arg)
|
rs1579391515
|
|
|
NM_004168.4(SDHA):c.734A>T (p.His245Leu)
|
rs1579391515
|
|
|
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)
|
rs1579391530
|
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
|
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)
|
rs745309710
|
|
|
NM_004168.4(SDHA):c.738C>T (p.Arg246=)
|
rs2126559157
|
|
|
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)
|
rs1735177782
|
|
|
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
|
|
|
|
NM_004168.4(SDHA):c.745G>A (p.Ala249Thr)
|
|
|
|
NM_004168.4(SDHA):c.747A>G (p.Ala249=)
|
|
|
|
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)
|
rs1735177925
|
|
|
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)
|
rs1060503700
|
|
|
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)
|
rs2126539437
|
|
|
NM_004168.4(SDHA):c.750G>A (p.Lys250=)
|
|
|
|
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
|
|
|
|
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
|
|
|
|
NM_004168.4(SDHA):c.753C>T (p.Asn251=)
|
rs1126411
|
|
|
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)
|
rs1126412
|
|
|
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
|
|
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
|
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
|
|
|
|
NM_004168.4(SDHA):c.75G>A (p.Val25=)
|
rs774378936
|
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
|
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)
|
rs1735179887
|
|
|
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)
|
rs1409070000
|
|
|
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)
|
rs2126559328
|
|
|
NM_004168.4(SDHA):c.768A>C (p.Thr256=)
|
rs2126559341
|
|
|
NM_004168.4(SDHA):c.768A>T (p.Thr256=)
|
rs2126559341
|
|
|
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
|
|
|
|
NM_004168.4(SDHA):c.769_770+77del
|
|
|
|
NM_004168.4(SDHA):c.770+10T>G
|
rs1579391739
|
|
|
NM_004168.4(SDHA):c.770+19_770+23del
|
rs372913930
|
|
|
NM_004168.4(SDHA):c.770+3A>G
|
|
|
|
NM_004168.4(SDHA):c.770+7A>C
|
rs770997653
|
|
|
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)
|
rs749566947
|
|
|
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)
|
rs749566947
|
|
|
NM_004168.4(SDHA):c.771-11A>G
|
rs2288461
|
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
|
NM_004168.4(SDHA):c.771-4C>G
|
rs1360537551
|
|
|
NM_004168.4(SDHA):c.771-5T>C
|
|
|
|
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
|
|
|
|
NM_004168.4(SDHA):c.774C>A (p.Gly258=)
|
rs2126567779
|
|
|
NM_004168.4(SDHA):c.774C>T (p.Gly258=)
|
rs2126567779
|
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
|
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter)
|
|
|
|
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)
|
rs940845256
|
|
|
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
|
|
|
|
NM_004168.4(SDHA):c.780G>A (p.Gly260=)
|
|
|
|
NM_004168.4(SDHA):c.783C>T (p.Arg261=)
|
rs1037927856
|
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
|
NM_004168.4(SDHA):c.786C>T (p.Thr262=)
|
rs1560992315
|
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
|
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)
|
rs2126567907
|
|
|
NM_004168.4(SDHA):c.789C>T (p.Tyr263=)
|
rs1553998616
|
|
|
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
|
|
|
|
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)
|
rs2126567940
|
|
|
NM_004168.4(SDHA):c.792C>T (p.Phe264=)
|
rs1237513803
|
|
|
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)
|
rs2126567967
|
|
|
NM_004168.4(SDHA):c.795C>T (p.Ser265=)
|
rs1579397171
|
|
|
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
|
rs1579397179
|
|
|
NM_004168.4(SDHA):c.798C>T (p.Cys266=)
|
|
|
|
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)
|
rs1734829878
|
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
|
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
|
|
|
|
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)
|
rs756415935
|
|
|
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)
|
rs756415935
|
|
|
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
|
|
|
|
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
|
rs1579397217
|
|
|
NM_004168.4(SDHA):c.807C>A (p.Ala269=)
|
|
|
|
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)
|
rs2126568112
|
|
|
NM_004168.4(SDHA):c.810C>T (p.His270=)
|
rs1199457341
|
|
|
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
|
rs765611464
|
|
|
NM_004168.4(SDHA):c.813C>A (p.Thr271=)
|
|
|
|
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)
|
rs1735357615
|
|
|
NM_004168.4(SDHA):c.819T>G (p.Thr273=)
|
|
|
|
NM_004168.4(SDHA):c.81A>G (p.Gln27=)
|
rs759523671
|
|
|
NM_004168.4(SDHA):c.822C>A (p.Gly274=)
|
rs34771391
|
|
|
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)
|
rs1553998629
|
|
|
NM_004168.4(SDHA):c.828C>A (p.Gly276=)
|
rs754910183
|
|
|
NM_004168.4(SDHA):c.828C>T (p.Gly276=)
|
rs754910183
|
|
|
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)
|
rs1553998638
|
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
|
NM_004168.4(SDHA):c.834C>T (p.Ala278=)
|
rs1553998649
|
|
|
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)
|
rs755913710
|
|
|
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)
|
rs777595710
|
|
|
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
|
|
|
|
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
|
|
|
|
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
|
rs746145822
|
|
|
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)
|
rs2126568391
|
|
|
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)
|
rs1171584124
|
|
|
NM_004168.4(SDHA):c.83dup (p.Gly29fs)
|
rs1734830402
|
|
|
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)
|
rs2126568400
|
|
|
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
|
|
|
|
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
|
|
|
|
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
|
|
|
|
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)
|
rs1553998658
|
|
|
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
|
|
|
|
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)
|
rs1735361111
|
|
|
NM_004168.4(SDHA):c.846G>A (p.Arg282=)
|
rs1579397464
|
|
|
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
|
|
|
|
NM_004168.4(SDHA):c.84A>G (p.Thr28=)
|
rs1553997162
|
|
|
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
|
rs1579397496
|
|
|
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)
|
rs2126568567
|
|
|
NM_004168.4(SDHA):c.861C>T (p.Cys287=)
|
|
|
|
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
|
|
|
|
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)
|
rs2126568625
|
|
|
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
|
|
|
|
NM_004168.4(SDHA):c.867C>T (p.Asp289=)
|
|
|
|
NM_004168.4(SDHA):c.868C>T (p.Leu290=)
|
rs2126568639
|
|
|
NM_004168.4(SDHA):c.870dup (p.Glu291fs)
|
|
|
|
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
|
rs1579397516
|
|
|
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
|
|
|
|
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
|
|
|
|
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
|
rs1336029027
|
|
|
NM_004168.4(SDHA):c.873G>A (p.Glu291=)
|
rs570393010
|
|
|
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)
|
rs2126568674
|
|
|
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
|
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
|
NM_004168.4(SDHA):c.882G>A (p.Gln294=)
|
|
|
|
NM_004168.4(SDHA):c.882G>T (p.Gln294His)
|
rs371512265
|
|
|
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)
|
rs1735363396
|
|
|
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)
|
rs1579397566
|
|
|
NM_004168.4(SDHA):c.888C>T (p.His296=)
|
rs1553998666
|
|
|
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)
|
rs2126539529
|
|
|
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)
|
rs1579397592
|
|
|
NM_004168.4(SDHA):c.891T>G (p.Pro297=)
|
rs1126417
|
|
|
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
|
|
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|
|
NM_004168.4(SDHA):c.895+2T>C
|
|
|
|
NM_004168.4(SDHA):c.895+4G>A
|
rs1735364791
|
|
|
NM_004168.4(SDHA):c.895+4G>C
|
|
|
|
NM_004168.4(SDHA):c.895+9G>A
|
rs1579397653
|
|
|
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
|
|
|
|
NM_004168.4(SDHA):c.896-10T>G
|
rs2126576716
|
|
|
NM_004168.4(SDHA):c.896-2A>G
|
|
|
|
NM_004168.4(SDHA):c.896-2del
|
|
|
|
NM_004168.4(SDHA):c.896-3C>T
|
rs1735543080
|
|
|
NM_004168.4(SDHA):c.896-5T>G
|
rs2126576742
|
|
|
NM_004168.4(SDHA):c.896-5del
|
rs751123858
|
|
|
NM_004168.4(SDHA):c.897C>T (p.Gly299=)
|
rs1484385016
|
|
|
NM_004168.4(SDHA):c.897_1260+1del
|
|
|
|
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
|
rs1448561231
|
|
|
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
|
|
|
|
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)
|
rs878854637
|
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
|
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)
|
rs1398198098
|
|
|
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)
|
rs1735543603
|
|
|
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)
|
rs1735544082
|
|
|
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)
|
rs2126576840
|
|
|
NM_004168.4(SDHA):c.90C>G (p.Thr30=)
|
rs2126539545
|
|
|
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)
|
rs878854638
|
|
|
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)
|
rs1735544893
|
|
|
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)
|
rs1477142607
|
|
|
NM_004168.4(SDHA):c.918C>A (p.Leu306=)
|
rs138828792
|
|
|
NM_004168.4(SDHA):c.918C>T (p.Leu306=)
|
rs138828792
|
|
|
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
|
|
|
|
NM_004168.4(SDHA):c.921T>C (p.Ile307=)
|
|
|
|
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
|
|
|
|
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
|
|
|
|
NM_004168.4(SDHA):c.924G>A (p.Thr308=)
|
rs1355760590
|
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
|
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
|
|
|
|
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
|
|
|
|
NM_004168.4(SDHA):c.930A>C (p.Gly310=)
|
rs1579402124
|
|
|
NM_004168.4(SDHA):c.933T>C (p.Cys311=)
|
rs764026731
|
|
|
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)
|
rs1735549033
|
|
|
NM_004168.4(SDHA):c.934_936del (p.Arg312del)
|
rs1735548711
|
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.936T>G (p.Arg312=)
|
rs2126577072
|
|
|
NM_004168.4(SDHA):c.939A>C (p.Gly313=)
|
rs1579402154
|
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
|
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)
|
rs1735550179
|
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
|
NM_004168.4(SDHA):c.942G>A (p.Glu314=)
|
rs1553998977
|
|
|
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)
|
rs1579402188
|
|
|
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
|
|
|
|
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
|
rs1579402194
|
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
|
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
|
|
|
|
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
|
|
|
|
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)
|
rs1734831542
|
|
|
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)
|
rs903136919
|
|
|
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)
|
rs1735551482
|
|
|
NM_004168.4(SDHA):c.954del (p.Ile319fs)
|
|
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
|
NM_004168.4(SDHA):c.957T>A (p.Ile319=)
|
|
|
|
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)
|
rs765092091
|
|
|
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)
|
rs1553998989
|
|
|
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)
|
rs1553998991
|
|
|
NM_004168.4(SDHA):c.969C>A (p.Gly323=)
|
rs142849100
|
|
|
NM_004168.4(SDHA):c.969C>G (p.Gly323=)
|
|
|
|
NM_004168.4(SDHA):c.96T>C (p.Gly32=)
|
rs2126539605
|
|
|
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
|
|
|
|
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)
|
rs1735554223
|
|
|
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
|
|
|
|
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)
|
rs1735554652
|
|
|
NM_004168.4(SDHA):c.978T>C (p.Phe326=)
|
|
|
|
NM_004168.4(SDHA):c.979A>G (p.Met327Val)
|
rs1285443776
|
|
|
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
|
|
|
|
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)
|
rs2126577482
|
|
|
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)
|
rs778297896
|
|
|
NM_004168.4(SDHA):c.984G>A (p.Glu328=)
|
rs1735555420
|
|
|
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)
|
rs771328239
|
|
|
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
|
|
|
|
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
|
|
|
|
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
|
|
|
|
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
|
|
|
|
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)
|
rs1734831975
|
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
|
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)
|
rs200526913
|
|
|
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
|
|
|
|
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
|
rs1206201147
|
|
|
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)
|
rs1206201147
|
|
|
NM_004168.4(SDHA):c.993C>T (p.Ala331=)
|
rs1424925197
|
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
|
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
|
|
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
|
NM_004168.4(SDHA):c.999C>A (p.Val333=)
|
|
|
|
NM_004168.4(SDHA):c.999C>G (p.Val333=)
|
rs149556555
|
|
|
NM_004168.4(SDHA):c.999C>T (p.Val333=)
|
rs149556555
|
|
|
NM_004168.4(SDHA):c.99_108del (p.Phe33fs)
|
rs1734832099
|
|
|
NM_004168.4(SDHA):c.99dup (p.His34fs)
|
|
|
|
NM_004168.4(SDHA):c.9G>A (p.Gly3=)
|
|
|
|
NM_004168.4(SDHA):c.9G>C (p.Gly3=)
|
rs1252447154
|
|
|
NM_004168.4:c.(1260_1261)_(1432_1433)del
|
|
|
|
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)
|
rs762569153
|
|
|
NM_004304.5(ALK):c.164C>A (p.Ala55Glu)
|
rs1217013970
|
|
|
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)
|
rs113994088
|
|
|
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)
|
rs113994089
|
|
|
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)
|
rs113994087
|
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
|
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser)
|
rs121913361
|
|
|
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)
|
rs121913361
|
|
|
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp)
|
rs397507483
|
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
|
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs)
|
rs2116449991
|
|
|
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)
|
rs146937374
|
|
|
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)
|
rs771986131
|
|
|
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)
|
rs1057519914
|
|
|
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)
|
rs786205165
|
|
|
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)
|
rs786205165
|
|
|
NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp)
|
rs1057519913
|
|
|
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)
|
rs1057519917
|
|
|
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)
|
rs587777894
|
|
|
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)
|
rs587777894
|
|
|
NM_005120.3(MED12):c.5980C>T (p.Arg1994Trp)
|
rs1556339256
|
|
|
NM_005154.3(USP8):c.[2138T>G;2150A>G]
|
|
|
|
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
|
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)
|
rs672601308
|
|
|
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)
|
rs672601311
|
|
|
NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala)
|
rs139236063
|
|
|
NM_005228.5(EGFR):c.1793G>T (p.Gly598Val)
|
rs139236063
|
|
|
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)
|
rs28929495
|
|
|
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)
|
rs121913428
|
|
|
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)
|
rs121913428
|
|
|
NM_005228.5(EGFR):c.322A>G (p.Arg108Gly)
|
rs1057519888
|
|
|
NM_005228.5(EGFR):c.323G>A (p.Arg108Lys)
|
rs1057519828
|
|
|
NM_005228.5(EGFR):c.787A>C (p.Thr263Pro)
|
rs1057519829
|
|
|
NM_005228.5(EGFR):c.865G>A (p.Ala289Thr)
|
rs769696078
|
|
|
NM_005228.5(EGFR):c.865_866delinsAA (p.Ala289Asn)
|
rs1057519887
|
|
|
NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile)
|
rs1057519887
|
|
|
NM_005228.5(EGFR):c.866C>A (p.Ala289Asp)
|
rs149840192
|
|
|
NM_005228.5(EGFR):c.866C>T (p.Ala289Val)
|
rs149840192
|
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
|
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)
|
rs1057519919
|
|
|
NM_005631.5(SMO):c.1417G>C (p.Asp473His)
|
rs17710891
|
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
|
NM_005896.4(IDH1):c.976T>C (p.Ser326Pro)
|
rs185564694
|
|
|
NM_005981.5(TSPAN31):c.*2156T>A
|
rs1446831422
|
|
|
NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met)
|
rs1553152166
|
|
|
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter)
|
rs1376427129
|
|
|
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
|
rs1057519942
|
|
|
NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala)
|
rs1057519941
|
|
|
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)
|
rs1057519941
|
|
|
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)
|
rs1057519939
|
|
|
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)
|
rs1057519938
|
|
|
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)
|
rs1057519938
|
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
|
NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)
|
rs749415085
|
|
|
NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)
|
rs749415085
|
|
|
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)
|
rs749415085
|
|
|
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)
|
rs772110575
|
|
|
NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)
|
rs772110575
|
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
|
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)
|
rs1057519925
|
|
|
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)
|
rs1057519926
|
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
|
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)
|
rs121913273
|
|
|
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)
|
rs1057519927
|
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
|
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)
|
rs1057519927
|
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
|
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)
|
rs397517201
|
|
|
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)
|
rs397517201
|
|
|
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)
|
rs397517201
|
|
|
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)
|
rs1057519940
|
|
|
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
|
rs867262025
|
|
|
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala)
|
rs1057519928
|
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
|
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
|
rs1057519936
|
|
|
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
|
rs1057519936
|
|
|
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
|
rs1057519937
|
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
|
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
|
rs1057519932
|
|
|
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)
|
rs1057519933
|
|
|
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)
|
rs1057519935
|
|
|
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)
|
rs1057519934
|
|
|
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)
|
rs587777790
|
|
|
NM_006231.4(POLE):c.1231G>T (p.Val411Leu)
|
rs1057519945
|
|
|
NM_006565.4(CTCF):c.610dup (p.Thr204fs)
|
rs886041997
|
|
|
NM_006618.5(KDM5B):c.1536C>G (p.His512Gln)
|
|
|
|
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile)
|
rs1554688023
|
|
|
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
|
rs1057519960
|
|
|
NM_007363.5(NONO):c.731dup (p.Asn244fs)
|
rs1555950011
|
|
|
NM_013263.5(BRD7):c.1834C>T (p.Arg612Ter)
|
rs796065051
|
|
|
NM_014575.4(SCHIP1):c.1354C>T (p.Arg452Ter)
|
|
|
|
NM_015450.3(POT1):c.910dup (p.Asp304fs)
|
|
|
|
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.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.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.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.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.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.1083T>G (p.Ile361Met)
|
rs1590082200
|
|
|
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.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+13del
|
|
|
|
NM_016169.4(SUFU):c.1157+14C>T
|
rs2063675828
|
|
|
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>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.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.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.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.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.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.1284A>G (p.Gly428=)
|
rs2135935488
|
|
|
NM_016169.4(SUFU):c.1287C>G (p.Pro429=)
|
rs2135935515
|
|
|
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.1295A>C (p.Gln432Pro)
|
|
|
|
NM_016169.4(SUFU):c.1296+10C>T
|
|
|
|
NM_016169.4(SUFU):c.1296+13_1296+91del
|
|
|
|
NM_016169.4(SUFU):c.1296+14T>G
|
rs1489647547
|
|
|
NM_016169.4(SUFU):c.1296+18C>A
|
|
|
|
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.1297-5C>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.1329G>T (p.Met443Ile)
|
rs773805575
|
|
|
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe)
|
rs2135954289
|
|
|
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.1347T>G (p.Asp449Glu)
|
rs1564711403
|
|
|
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+18_1365+19delinsCC
|
|
|
|
NM_016169.4(SUFU):c.1365+1G>A
|
rs2063794106
|
|
|
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.1366-13G>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.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.1391G>A (p.Trp464Ter)
|
rs2135959437
|
|
|
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.1434G>A (p.Val478=)
|
|
|
|
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn)
|
rs1318484622
|
|
|
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.151C>T (p.Pro51Ser)
|
rs2062293449
|
|
|
NM_016169.4(SUFU):c.153G>A (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.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.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.183-1G>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.189T>C (p.Gly63=)
|
rs2135619936
|
|
|
NM_016169.4(SUFU):c.192C>T (p.Gly64=)
|
rs2135619956
|
|
|
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.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.222C>G (p.Tyr74Ter)
|
|
|
|
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.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.305A>G (p.Asn102Ser)
|
rs146181245
|
|
|
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
|
|
|
|
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+15C>T
|
|
|
|
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.331G>C (p.Asp111His)
|
rs1590018865
|
|
|
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu)
|
rs2062895698
|
|
|
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
|
|
|
|
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.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.367C>T (p.Arg123Cys)
|
rs202247756
|
|
|
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.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.385G>A (p.Gly129Arg)
|
|
|
|
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
|
|
|
|
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.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.413C>T (p.Ala138Val)
|
|
|
|
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe)
|
rs1060501111
|
|
|
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+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+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.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.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.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.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.56G>A (p.Gly19Asp)
|
rs1589969913
|
|
|
NM_016169.4(SUFU):c.56G>T (p.Gly19Val)
|
|
|
|
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
|
|
|
|
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
|
|
|
|
NM_016169.4(SUFU):c.598-14A>G
|
|
|
|
NM_016169.4(SUFU):c.598-18T>C
|
|
|
|
NM_016169.4(SUFU):c.598-4T>C
|
rs2135870306
|
|
|
NM_016169.4(SUFU):c.598-4T>G
|
rs2135870306
|
|
|
NM_016169.4(SUFU):c.598-6C>T
|
rs2135870298
|
|
|
NM_016169.4(SUFU):c.598-8G>C
|
rs2135870288
|
|
|
NM_016169.4(SUFU):c.598-8G>T
|
rs2135870288
|
|
|
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)
|
|
|
|
NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
|
|
|
|
NM_016169.4(SUFU):c.600C>A (p.Ile200=)
|
|
|
|
NM_016169.4(SUFU):c.600C>G (p.Ile200Met)
|
rs149513330
|
|
|
NM_016169.4(SUFU):c.603T>C (p.Val201=)
|
rs1554852370
|
|
|
NM_016169.4(SUFU):c.60G>T (p.Pro20=)
|
rs1589969926
|
|
|
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile)
|
rs1478836560
|
|
|
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys)
|
rs1590062858
|
|
|
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
|
|
|
|
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
|
|
|
|
NM_016169.4(SUFU):c.624A>C (p.Leu208=)
|
|
|
|
NM_016169.4(SUFU):c.624A>G (p.Leu208=)
|
rs761722899
|
|
|
NM_016169.4(SUFU):c.626A>C (p.His209Pro)
|
rs1590062872
|
|
|
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
|
|
|
|
NM_016169.4(SUFU):c.633C>T (p.Ala211=)
|
rs2135870571
|
|
|
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg)
|
rs2063428727
|
|
|
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)
|
rs907135467
|
|
|
NM_016169.4(SUFU):c.639G>A (p.Gln213=)
|
rs1590062886
|
|
|
NM_016169.4(SUFU):c.63T>C (p.Thr21=)
|
rs1589969931
|
|
|
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
|
|
|
|
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys)
|
rs551772204
|
|
|
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg)
|
rs2063429038
|
|
|
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
|
|
|
|
NM_016169.4(SUFU):c.649_661del (p.Gln217fs)
|
rs1590062899
|
|
|
NM_016169.4(SUFU):c.654C>A (p.Gly218=)
|
rs1227186441
|
|
|
NM_016169.4(SUFU):c.654C>T (p.Gly218=)
|
rs1227186441
|
|
|
NM_016169.4(SUFU):c.657C>G (p.Ile219Met)
|
|
|
|
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp)
|
rs761240106
|
|
|
NM_016169.4(SUFU):c.65C>T (p.Ala22Val)
|
rs761240106
|
|
|
NM_016169.4(SUFU):c.660G>A (p.Leu220=)
|
rs2135870749
|
|
|
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
|
|
|
|
NM_016169.4(SUFU):c.663G>A (p.Glu221=)
|
|
|
|
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
|
|
|
|
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
|
|
NM_016169.4(SUFU):c.664C>T (p.Leu222=)
|
rs765345575
|
|
|
NM_016169.4(SUFU):c.666G>C (p.Leu222=)
|
|
|
|
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
|
|
|
|
NM_016169.4(SUFU):c.669G>A (p.Leu223=)
|
rs1432212427
|
|
|
NM_016169.4(SUFU):c.669G>C (p.Leu223=)
|
|
|
|
NM_016169.4(SUFU):c.66C>A (p.Ala22=)
|
rs1265496966
|
|
|
NM_016169.4(SUFU):c.66C>G (p.Ala22=)
|
|
|
|
NM_016169.4(SUFU):c.66C>T (p.Ala22=)
|
rs1265496966
|
|
|
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp)
|
rs1590062935
|
|
|
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser)
|
rs2063429642
|
|
|
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg)
|
rs1432427138
|
|
|
NM_016169.4(SUFU):c.677T>C (p.Val226Ala)
|
rs895181370
|
|
|
NM_016169.4(SUFU):c.678G>T (p.Val226=)
|
|
|
|
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala)
|
rs766666529
|
|
|
NM_016169.4(SUFU):c.681T>C (p.Pro227=)
|
|
|
|
NM_016169.4(SUFU):c.683+10C>A
|
|
|
|
NM_016169.4(SUFU):c.683+10del
|
|
|
|
NM_016169.4(SUFU):c.683+18G>A
|
|
|
|
NM_016169.4(SUFU):c.683+19T>C
|
|
|
|
NM_016169.4(SUFU):c.683+1G>A
|
rs2135870923
|
|
|
NM_016169.4(SUFU):c.683+21_683+24dup
|
|
|
|
NM_016169.4(SUFU):c.683+3G>A
|
rs1590062961
|
|
|
NM_016169.4(SUFU):c.683+7A>G
|
rs764695403
|
|
|
NM_016169.4(SUFU):c.683+7A>T
|
|
|
|
NM_016169.4(SUFU):c.683+8C>G
|
|
|
|
NM_016169.4(SUFU):c.684-11C>T
|
|
|
|
NM_016169.4(SUFU):c.684-11del
|
rs1650612996
|
|
|
NM_016169.4(SUFU):c.684-20T>C
|
|
|
|
NM_016169.4(SUFU):c.684-2A>G
|
rs1590063305
|
|
|
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.702G>T (p.Leu234=)
|
|
|
|
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.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+19A>G
|
|
|
|
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>T
|
rs1564698642
|
|
|
NM_016169.4(SUFU):c.757-17T>G
|
rs2135880991
|
|
|
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.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.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.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.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.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>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.911-14T>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.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.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.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>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.997A>G (p.Asn333Asp)
|
|
|
|
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
|
|
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
|
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)
|
rs1336819076
|
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
|
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)
|
|
|
|
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
|
rs781702725
|
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
|
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val)
|
rs373951663
|
|
|
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)
|
rs1861838658
|
|
|
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
|
|
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
|
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)
|
rs750979204
|
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
|
NM_017841.4(SDHAF2):c.370+4C>G
|
rs758935566
|
|
|
NM_017841.4(SDHAF2):c.371-4G>C
|
|
|
|
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
|
|
|
|
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)
|
rs1862009020
|
|
|
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)
|
|
|
|
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
|
|
|
|
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
|
|
|
|
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)
|
|
|
|
NM_020987.5(ANK3):c.7068dup (p.Glu2357fs)
|
|
|
|
NM_021926.4(ALX4):c.2T>C (p.Met1Thr)
|
rs1475499990
|
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
|
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
|
|
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
|
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs)
|
rs1862873659
|
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
|
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
|
|
|
|
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
|
|
|
|
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter)
|
rs779974496
|
|
|
NM_022124.6(CDH23):c.1859-1G>T
|
rs1274105133
|
|
|
NM_022124.6(CDH23):c.1859-2A>G
|
|
|
|
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
|
|
|
|
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
|
|
|
|
NM_022124.6(CDH23):c.1987-1G>T
|
|
|
|
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
|
|
|
|
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
|
rs1230303971
|
|
|
NM_022124.6(CDH23):c.2289+1G>C
|
|
|
|
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter)
|
rs1589344004
|
|
|
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
|
|
|
|
NM_022124.6(CDH23):c.2397+1G>A
|
|
|
|
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
|
|
|
|
NM_022124.6(CDH23):c.2587+1G>C
|
|
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
|
|
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
|
|
|
|
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
|
|
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
|
NM_022124.6(CDH23):c.288+2T>C
|
|
|
|
NM_022124.6(CDH23):c.2922del (p.Lys975fs)
|
rs1338446830
|
|
|
NM_022124.6(CDH23):c.2953+1G>A
|
|
|
|
NM_022124.6(CDH23):c.2954-2A>G
|
|
|
|
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)
|
|
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
|
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)
|
|
|
|
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
|
|
|
|
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)
|
|
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
|
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)
|
|
|
|
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)
|
|
|
|
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)
|
rs2132820264
|
|
|
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)
|
rs397517327
|
|
|
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)
|
|
|
|
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)
|
|
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
|
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
|
|
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
|
NM_022124.6(CDH23):c.4101_4104+3del
|
|
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
|
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu)
|
rs767004225
|
|
|
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
|
|
|
|
NM_022124.6(CDH23):c.4207-2A>G
|
|
|
|
NM_022124.6(CDH23):c.4209+1G>T
|
rs727503841
|
|
|
NM_022124.6(CDH23):c.4210-1G>A
|
rs1166948274
|
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
|
|
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
|
|
|
|
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
|
|
|
|
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
|
|
|
|
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
|
|
|
|
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
|
|
|
|
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
|
|
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
|
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
|
|
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
|
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
|
|
|
|
NM_022124.6(CDH23):c.489del (p.Gly165fs)
|
|
|
|
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
|
|
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
|
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer)
|
rs2132927249
|
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
|
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)
|
rs758382198
|
|
|
NM_022124.6(CDH23):c.5188-1G>A
|
|
|
|
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
|
|
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
|
NM_022124.6(CDH23):c.5502+2T>G
|
|
|
|
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
|
|
|
|
NM_022124.6(CDH23):c.562dup (p.Thr188fs)
|
rs1857435780
|
|
|
NM_022124.6(CDH23):c.5712+1G>A
|
rs397517341
|
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
|
NM_022124.6(CDH23):c.5820+2T>C
|
|
|
|
NM_022124.6(CDH23):c.5820+5G>A
|
rs2132940635
|
|
|
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
|
|
|
|
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
|
|
|
|
NM_022124.6(CDH23):c.6050-1G>A
|
rs762805265
|
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
|
NM_022124.6(CDH23):c.624+1G>A
|
|
|
|
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter)
|
rs1397549896
|
|
|
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
|
|
|
|
NM_022124.6(CDH23):c.6344del (p.Arg2115fs)
|
rs1589424694
|
|
|
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
|
|
|
|
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
|
|
|
|
NM_022124.6(CDH23):c.6393del (p.Ile2132fs)
|
rs754876029
|
|
|
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
|
|
|
|
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
|
|
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
|
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
|
|
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
|
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
|
|
|
|
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
|
|
|
|
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
|
|
|
|
NM_022124.6(CDH23):c.67+1G>A
|
|
|
|
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
|
|
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
|
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile)
|
rs2132965400
|
|
|
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
|
|
|
|
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
|
|
|
|
NM_022124.6(CDH23):c.6968del (p.Pro2323fs)
|
rs397517350
|
|
|
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
|
|
|
|
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
|
|
|
|
NM_022124.6(CDH23):c.7054+1G>A
|
rs1057524265
|
|
|
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
|
|
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
|
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter)
|
rs2132968121
|
|
|
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
|
|
|
|
NM_022124.6(CDH23):c.7483-1G>A
|
|
|
|
NM_022124.6(CDH23):c.753+1G>A
|
rs1857755312
|
|
|
NM_022124.6(CDH23):c.754-2A>G
|
rs2132400338
|
|
|
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
|
|
|
|
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
|
|
|
|
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
|
|
|
|
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr)
|
rs373294595
|
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
|
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
|
|
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472
|
|
|
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs)
|
rs1221464948
|
|
|
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
|
|
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
|
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)
|
rs876657422
|
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
|
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter)
|
rs1841758961
|
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
|
NM_022124.6(CDH23):c.8308+1G>A
|
rs757675676
|
|
|
NM_022124.6(CDH23):c.8309-1G>A
|
|
|
|
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
|
|
|
|
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)
|
rs1841773052
|
|
|
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
|
|
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
|
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
|
|
|
|
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
|
|
|
|
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
|
|
|
|
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)
|
rs767343063
|
|
|
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter)
|
rs767343063
|
|
|
NM_022124.6(CDH23):c.8722+1G>A
|
|
|
|
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
|
|
|
|
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
|
|
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
|
NM_022124.6(CDH23):c.9176del (p.Pro3059fs)
|
rs1554877806
|
|
|
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
|
|
|
|
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)
|
rs1564808024
|
|
|
NM_022124.6(CDH23):c.9319+1G>T
|
|
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
|
|
|
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp)
|
rs1052484950
|
|
|
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
|
|
|
|
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
|
|
|
|
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)
|
rs773464867
|
|
|
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)
|
rs397517367
|
|
|
NM_022124.6(CDH23):c.9658del (p.Glu3220fs)
|
rs922700209
|
|
|
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
|
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
|
NM_022124.6(CDH23):c.9738+1G>T
|
|
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
|
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys)
|
rs1554207664
|
|
|
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)
|
rs1057519899
|
|
|
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)
|
rs1057519898
|
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
|
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)
|
rs1057519897
|
|
|
NM_032444.4(SLX4):c.859_860del (p.Ser287fs)
|
rs1567176006
|
|
|
NM_032489.3(ACRBP):c.1040dup (p.Tyr348fs)
|
rs1949067963
|
|
|
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)
|
rs1556379508
|
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
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rs559714658
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NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
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rs61749696
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NM_152641.4(ARID2):c.1837C>T (p.Gln613Ter)
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NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter)
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rs875989782
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NM_177438.3(DICER1):c.2458A>G (p.Thr820Ala)
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rs1595380820
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NM_177438.3(DICER1):c.4050+1G>A
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rs875989783
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NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)
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rs875989784
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NM_177438.3(DICER1):c.4633dup (p.Ser1545fs)
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rs875989781
|
|
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NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)
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rs875989779
|
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NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter)
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rs875989780
|
|
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NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg)
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rs1595314951
|
|
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NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg)
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rs1057519757
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NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp)
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rs1057519841
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Single allele
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inv(2)(p23.1p23.2)
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inv(22)(q12.2q12.2)
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inv(9)(p12q21.33)
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t(10;19)(q26.13;q13.43)
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t(2;15)(q23.1;q25.3)
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t(5;22)(q31.2;q12.1)
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