NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=)
|
rs3734441
|
0.52321
|
NM_001374828.1(ARID1B):c.2248-35G>A
|
rs3734440
|
0.47115
|
NM_003072.5(SMARCA4):c.1524T>C (p.His508=)
|
rs7935
|
0.32485
|
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=)
|
rs7275
|
0.28266
|
NM_001374828.1(ARID1B):c.4383-7A>G
|
rs112318565
|
0.14423
|
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=)
|
rs28997582
|
0.04598
|
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=)
|
rs9105
|
0.04127
|
NM_003072.5(SMARCA4):c.356-14A>G
|
rs111447132
|
0.03865
|
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=)
|
rs17001073
|
0.03292
|
NM_003072.5(SMARCA4):c.2123+12C>T
|
rs17001090
|
0.03024
|
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=)
|
rs17001075
|
0.03015
|
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=)
|
rs61738955
|
0.02808
|
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=)
|
rs61747988
|
0.01682
|
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu)
|
rs34870395
|
0.01415
|
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=)
|
rs149573400
|
0.01397
|
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val)
|
rs17318151
|
0.01325
|
NM_003072.5(SMARCA4):c.1419+8C>T
|
rs115492175
|
0.01292
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
NM_003072.5(SMARCA4):c.4635+12G>A
|
rs34930626
|
0.00935
|
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=)
|
rs61745451
|
0.00911
|
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)
|
rs146141457
|
0.00837
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=)
|
rs112703040
|
0.00807
|
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser)
|
rs114201726
|
0.00727
|
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)
|
rs149518409
|
0.00673
|
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00668
|
NM_001374828.1(ARID1B):c.2137-3T>A
|
rs116661275
|
0.00634
|
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser)
|
rs34786733
|
0.00590
|
NM_003072.5(SMARCA4):c.222+14T>C
|
rs112825147
|
0.00548
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=)
|
rs78253128
|
0.00509
|
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)
|
rs375160616
|
0.00438
|
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)
|
rs114882905
|
0.00426
|
NM_003072.5(SMARCA4):c.3547-11T>C
|
rs190104006
|
0.00408
|
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=)
|
rs139505007
|
0.00401
|
NM_001374828.1(ARID1B):c.3235+6C>T
|
rs148976215
|
0.00393
|
NM_003072.5(SMARCA4):c.1119-12C>T
|
rs113870824
|
0.00387
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00367
|
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=)
|
rs141783755
|
0.00309
|
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=)
|
rs150010654
|
0.00307
|
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=)
|
rs142391292
|
0.00301
|
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=)
|
rs146240413
|
0.00298
|
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_003072.5(SMARCA4):c.-43C>T
|
rs574982898
|
0.00275
|
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=)
|
rs142499766
|
0.00260
|
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=)
|
rs533182720
|
0.00257
|
NM_001374828.1(ARID1B):c.1791+19G>C
|
rs374013482
|
0.00249
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00245
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)
|
rs113955216
|
0.00229
|
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=)
|
rs112474841
|
0.00209
|
NM_003072.5(SMARCA4):c.-72C>T
|
rs559144002
|
0.00196
|
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=)
|
rs61736269
|
0.00189
|
NM_003072.5(SMARCA4):c.*401G>A
|
rs559071626
|
0.00189
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
NM_001374828.1(ARID1B):c.3714+11G>A
|
rs368322992
|
0.00156
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00123
|
NM_003072.5(SMARCA4):c.*327T>C
|
rs146968124
|
0.00109
|
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu)
|
rs150140314
|
0.00108
|
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=)
|
rs533517668
|
0.00107
|
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=)
|
rs144894118
|
0.00106
|
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser)
|
rs567246585
|
0.00088
|
NM_003073.5(SMARCB1):c.500+24C>G
|
rs199737164
|
0.00084
|
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=)
|
rs148495641
|
0.00079
|
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser)
|
rs140177120
|
0.00076
|
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly)
|
rs149841055
|
0.00071
|
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=)
|
rs148749268
|
0.00067
|
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val)
|
rs530780611
|
0.00066
|
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr)
|
rs147784000
|
0.00066
|
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=)
|
rs184815562
|
0.00064
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00064
|
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val)
|
rs199948752
|
0.00058
|
NM_003072.5(SMARCA4):c.*299C>T
|
rs772399601
|
0.00056
|
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn)
|
rs374989034
|
0.00055
|
NM_003072.5(SMARCA4):c.4171-13A>G
|
rs201298366
|
0.00040
|
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)
|
rs139943231
|
0.00039
|
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu)
|
rs139620600
|
0.00038
|
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)
|
rs141806282
|
0.00038
|
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)
|
rs1450163641
|
0.00036
|
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=)
|
rs183572405
|
0.00034
|
NM_003072.5(SMARCA4):c.*25C>T
|
rs189436737
|
0.00034
|
NM_003072.5(SMARCA4):c.2973+14G>A
|
rs372877301
|
0.00034
|
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
|
rs201879930
|
0.00029
|
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg)
|
rs199674889
|
0.00026
|
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)
|
rs138689221
|
0.00026
|
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp)
|
rs139125255
|
0.00025
|
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val)
|
rs138482029
|
0.00025
|
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=)
|
rs138764713
|
0.00025
|
NM_001374828.1(ARID1B):c.2379T>C (p.His793=)
|
rs370364530
|
0.00024
|
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=)
|
rs145435121
|
0.00023
|
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=)
|
rs140322802
|
0.00022
|
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)
|
rs756224211
|
0.00021
|
NM_003072.5(SMARCA4):c.2275-10G>A
|
rs375787249
|
0.00020
|
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=)
|
rs149111403
|
0.00020
|
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)
|
rs62639303
|
0.00020
|
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)
|
rs1455234951
|
0.00019
|
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)
|
rs776745618
|
0.00019
|
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln)
|
rs148530368
|
0.00019
|
NM_001374828.1(ARID1B):c.395C>T (p.Ser132Phe)
|
rs375486386
|
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_003072.5(SMARCA4):c.1099C>T (p.Leu367=)
|
rs372379166
|
0.00017
|
NM_006015.6(ARID1A):c.5449G>A (p.Val1817Ile)
|
rs375250508
|
0.00016
|
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=)
|
rs149670457
|
0.00015
|
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=)
|
rs746415437
|
0.00015
|
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val)
|
rs201137071
|
0.00014
|
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr)
|
rs201012033
|
0.00014
|
NM_001374828.1(ARID1B):c.1881G>A (p.Pro627=)
|
rs142939952
|
0.00013
|
NM_001374828.1(ARID1B):c.417C>G (p.Gly139=)
|
rs555625059
|
0.00012
|
NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)
|
rs1044746171
|
0.00012
|
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)
|
rs199634608
|
0.00012
|
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=)
|
rs2288845
|
0.00011
|
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)
|
rs372410282
|
0.00011
|
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)
|
rs144803359
|
0.00011
|
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=)
|
rs539865173
|
0.00010
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=)
|
rs754242891
|
0.00009
|
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)
|
rs748273011
|
0.00008
|
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=)
|
rs751242644
|
0.00008
|
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=)
|
rs28997581
|
0.00007
|
NM_001374828.1(ARID1B):c.*3T>C
|
rs367616374
|
0.00006
|
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)
|
rs1274183370
|
0.00006
|
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=)
|
rs566865279
|
0.00006
|
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu)
|
rs142466273
|
0.00006
|
NM_001374828.1(ARID1B):c.929T>C (p.Val310Ala)
|
rs746730857
|
0.00005
|
NM_001374828.1(ARID1B):c.1951G>A (p.Gly651Arg)
|
rs765362265
|
0.00004
|
NM_001374828.1(ARID1B):c.3266C>T (p.Pro1089Leu)
|
rs540277176
|
0.00004
|
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser)
|
rs141461351
|
0.00004
|
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)
|
rs1451259945
|
0.00004
|
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=)
|
rs758438795
|
0.00004
|
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=)
|
rs764939990
|
0.00004
|
NM_003072.5(SMARCA4):c.4170+5A>G
|
rs749029481
|
0.00004
|
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)
|
rs749315126
|
0.00003
|
NM_001374828.1(ARID1B):c.4129A>G (p.Met1377Val)
|
rs138784762
|
0.00003
|
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser)
|
rs151115781
|
0.00003
|
NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln)
|
rs751043203
|
0.00003
|
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln)
|
rs751391187
|
0.00003
|
NM_001374828.1(ARID1B):c.6344C>T (p.Pro2115Leu)
|
rs368420323
|
0.00003
|
NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser)
|
rs561130072
|
0.00003
|
NM_003072.5(SMARCA4):c.223-7C>G
|
rs762146990
|
0.00003
|
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=)
|
rs377720149
|
0.00003
|
NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser)
|
rs767293145
|
0.00002
|
NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly)
|
rs1214970789
|
0.00002
|
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)
|
rs761093701
|
0.00002
|
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn)
|
rs1159561275
|
0.00002
|
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=)
|
rs752231248
|
0.00002
|
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
|
rs761227259
|
0.00002
|
NM_001374828.1(ARID1B):c.3752A>G (p.Asn1251Ser)
|
rs1408001716
|
0.00002
|
NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)
|
rs772615576
|
0.00002
|
NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val)
|
rs777513652
|
0.00002
|
NM_001374828.1(ARID1B):c.5096C>T (p.Pro1699Leu)
|
rs1455506883
|
0.00002
|
NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser)
|
rs139181534
|
0.00002
|
NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu)
|
rs962264300
|
0.00002
|
NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln)
|
rs745924035
|
0.00002
|
NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser)
|
rs774509236
|
0.00002
|
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His)
|
rs775807962
|
0.00002
|
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=)
|
rs374167170
|
0.00002
|
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=)
|
rs182644267
|
0.00002
|
NM_003073.5(SMARCB1):c.-149C>T
|
rs886057282
|
0.00002
|
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val)
|
rs1295137307
|
0.00002
|
NM_006015.6(ARID1A):c.6785C>T (p.Ser2262Leu)
|
rs375849292
|
0.00002
|
NM_001128849.2(SMARCA4):c.*464G>T
|
rs886054156
|
0.00001
|
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg)
|
rs1401971317
|
0.00001
|
NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg)
|
rs926297805
|
0.00001
|
NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser)
|
rs1240329007
|
0.00001
|
NM_001374828.1(ARID1B):c.1334C>T (p.Ser445Phe)
|
rs1380676072
|
0.00001
|
NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu)
|
rs1235258455
|
0.00001
|
NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val)
|
rs1442638389
|
0.00001
|
NM_001374828.1(ARID1B):c.1557C>G (p.Ser519Arg)
|
rs1583026835
|
0.00001
|
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr)
|
rs1296293849
|
0.00001
|
NM_001374828.1(ARID1B):c.1781G>T (p.Gly594Val)
|
rs775035352
|
0.00001
|
NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile)
|
rs1048427417
|
0.00001
|
NM_001374828.1(ARID1B):c.1897T>C (p.Tyr633His)
|
rs747306459
|
0.00001
|
NM_001374828.1(ARID1B):c.1987-10T>G
|
rs1276255111
|
0.00001
|
NM_001374828.1(ARID1B):c.1987-29738G>T
|
rs201653711
|
0.00001
|
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu)
|
rs779239519
|
0.00001
|
NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)
|
rs368202669
|
0.00001
|
NM_001374828.1(ARID1B):c.2729dup (p.Tyr910Ter)
|
rs1314750809
|
0.00001
|
NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr)
|
rs770228055
|
0.00001
|
NM_001374828.1(ARID1B):c.2909C>T (p.Pro970Leu)
|
rs1057521656
|
0.00001
|
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=)
|
rs371828409
|
0.00001
|
NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln)
|
rs761133847
|
0.00001
|
NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg)
|
rs1423681879
|
0.00001
|
NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala)
|
rs140639463
|
0.00001
|
NM_001374828.1(ARID1B):c.4738A>G (p.Ser1580Gly)
|
rs1464031481
|
0.00001
|
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val)
|
rs752961325
|
0.00001
|
NM_001374828.1(ARID1B):c.493C>A (p.Gln165Lys)
|
rs1460103880
|
0.00001
|
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val)
|
rs762698567
|
0.00001
|
NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln)
|
rs762183842
|
0.00001
|
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys)
|
rs528801298
|
0.00001
|
NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr)
|
rs772464386
|
0.00001
|
NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)
|
rs762587131
|
0.00001
|
NM_001374828.1(ARID1B):c.6723C>T (p.Tyr2241=)
|
rs1300985005
|
0.00001
|
NM_001374828.1(ARID1B):c.6784G>A (p.Ala2262Thr)
|
rs1413279513
|
0.00001
|
NM_001374828.1(ARID1B):c.6904C>G (p.Leu2302Val)
|
rs766875935
|
0.00001
|
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp)
|
rs920305028
|
0.00001
|
NM_003072.5(SMARCA4):c.*346G>A
|
rs754087248
|
0.00001
|
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)
|
rs777628688
|
0.00001
|
NM_003072.5(SMARCA4):c.2506-14T>C
|
rs751003991
|
0.00001
|
NM_003072.5(SMARCA4):c.2565C>T (p.Val855=)
|
rs775610559
|
0.00001
|
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=)
|
rs767915497
|
0.00001
|
NM_003072.5(SMARCA4):c.355+9C>T
|
rs767575401
|
0.00001
|
NM_003072.5(SMARCA4):c.3775-12A>G
|
rs770956288
|
0.00001
|
NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=)
|
rs780735376
|
0.00001
|
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=)
|
rs372620534
|
0.00001
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
NM_003072.5(SMARCA4):c.4533+6C>A
|
rs1311909722
|
0.00001
|
NM_003072.5(SMARCA4):c.4743C>T (p.Gly1581=)
|
rs759862377
|
0.00001
|
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)
|
rs533671711
|
0.00001
|
NM_006015.6(ARID1A):c.328A>G (p.Arg110Gly)
|
rs1444337339
|
0.00001
|
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn
|
|
|
GRCh37/hg19 19q13.33(chr19:48185250-48245216)x1
|
|
|
GRCh37/hg19 6q25.3(chr6:156858484-157854806)
|
|
|
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
|
|
|
GRCh37/hg19 6q25.3(chr6:157341357-157455697)
|
|
|
GRCh37/hg19 6q25.3(chr6:157377242-157431665)
|
|
|
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
|
|
|
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
|
|
|
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
|
|
|
NM_001330288.2(SMARCC2):c.2549-2A>G
|
|
|
NM_001374828.1(ARID1B):c.1021C>T (p.Gln341Ter)
|
rs1778885211
|
|
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1])
|
rs1562376911
|
|
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter)
|
rs1583025138
|
|
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly)
|
rs2114986662
|
|
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del)
|
rs587779747
|
|
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402_Ser403insGly)
|
rs587779747
|
|
NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg)
|
rs1453256339
|
|
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1])
|
rs773423003
|
|
NM_001374828.1(ARID1B):c.1278_1292del (p.Ala429_Ala433del)
|
rs775733700
|
|
NM_001374828.1(ARID1B):c.1278_1308del (p.Ala431fs)
|
|
|
NM_001374828.1(ARID1B):c.1281_1292del (p.Ala430_Ala433del)
|
|
|
NM_001374828.1(ARID1B):c.1292C>T (p.Ala431Val)
|
rs1321986430
|
|
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
|
rs2546837371
|
|
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs)
|
rs943407609
|
|
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)
|
rs1778944605
|
|
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
|
rs1554247989
|
|
NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys)
|
rs1315757941
|
|
NM_001374828.1(ARID1B):c.1329del (p.Ser444fs)
|
rs2546838229
|
|
NM_001374828.1(ARID1B):c.1355G>A (p.Ser452Asn)
|
rs1778961039
|
|
NM_001374828.1(ARID1B):c.1393_1401del (p.Pro465_Gly467del)
|
|
|
NM_001374828.1(ARID1B):c.1400del (p.Gly467fs)
|
rs2546839430
|
|
NM_001374828.1(ARID1B):c.1436G>A (p.Gly479Asp)
|
|
|
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs)
|
rs1554248082
|
|
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
|
rs2546840548
|
|
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs)
|
rs1417035592
|
|
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs)
|
rs1583026682
|
|
NM_001374828.1(ARID1B):c.1556G>A (p.Ser519Asn)
|
rs770362902
|
|
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter)
|
rs2114999746
|
|
NM_001374828.1(ARID1B):c.1574del (p.Ser525fs)
|
rs2115000174
|
|
NM_001374828.1(ARID1B):c.1598C>T (p.Pro533Leu)
|
rs1778998112
|
|
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr)
|
rs1562378653
|
|
NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro)
|
rs2546843411
|
|
NM_001374828.1(ARID1B):c.1616_1640del (p.Gln539fs)
|
|
|
NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla)
|
rs1779002290
|
|
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)
|
rs1779004027
|
|
NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del)
|
rs1392865152
|
|
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)
|
rs1131691339
|
|
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs)
|
rs1131691706
|
|
NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)
|
rs1779009539
|
|
NM_001374828.1(ARID1B):c.1649_1659del (p.Gln550fs)
|
rs1085307818
|
|
NM_001374828.1(ARID1B):c.1651C>A (p.Gln551Lys)
|
rs1583027141
|
|
NM_001374828.1(ARID1B):c.1718G>A (p.Trp573Ter)
|
|
|
NM_001374828.1(ARID1B):c.1729C>T (p.Gln577Ter)
|
rs2546846179
|
|
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter)
|
rs1554248236
|
|
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs)
|
rs1779022643
|
|
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs)
|
rs1289149988
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
|
rs2547121857
|
|
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
|
rs2547122632
|
|
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)
|
rs1057518951
|
|
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter)
|
rs1554256703
|
|
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)
|
rs754167205
|
|
NM_001374828.1(ARID1B):c.1940del (p.Gly647fs)
|
rs2547124143
|
|
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp)
|
rs143370913
|
|
NM_001374828.1(ARID1B):c.1987-29742G>A
|
rs1554261846
|
|
NM_001374828.1(ARID1B):c.19GCG[7] (p.Ala14del)
|
rs1046451353
|
|
NM_001374828.1(ARID1B):c.2002G>T (p.Gly668Ter)
|
rs1554265253
|
|
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)
|
rs773640553
|
|
NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter)
|
rs1554265271
|
|
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)
|
rs1582908829
|
|
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter)
|
rs1554265275
|
|
NM_001374828.1(ARID1B):c.2058del (p.Gln686fs)
|
rs2128210848
|
|
NM_001374828.1(ARID1B):c.2073dup (p.His692fs)
|
rs2128210922
|
|
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs)
|
rs2128210949
|
|
NM_001374828.1(ARID1B):c.2086dup (p.Gln696fs)
|
rs2128210962
|
|
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
|
rs1554265316
|
|
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs)
|
rs1554265319
|
|
NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter)
|
rs387907142
|
|
NM_001374828.1(ARID1B):c.2137-3dup
|
rs541477699
|
|
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter)
|
rs1554270809
|
|
NM_001374828.1(ARID1B):c.2187del (p.Gly730fs)
|
rs2535348456
|
|
NM_001374828.1(ARID1B):c.2221_2222dup (p.Gln741fs)
|
rs2535350159
|
|
NM_001374828.1(ARID1B):c.2239dup (p.Ser747fs)
|
rs2128275227
|
|
NM_001374828.1(ARID1B):c.2248-2A>G
|
rs2128462015
|
|
NM_001374828.1(ARID1B):c.2254_2257del (p.Ser752fs)
|
rs2537075380
|
|
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter)
|
rs1554294593
|
|
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter)
|
rs753933273
|
|
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)
|
rs1583280025
|
|
NM_001374828.1(ARID1B):c.2400del (p.Ser800fs)
|
rs1583280152
|
|
NM_001374828.1(ARID1B):c.2411dup (p.Ser806fs)
|
rs1554294674
|
|
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter)
|
rs869312712
|
|
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)
|
rs797045272
|
|
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs)
|
rs1554294698
|
|
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
|
rs2128463445
|
|
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
|
rs2128463505
|
|
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser)
|
rs1349412123
|
|
NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter)
|
rs1554298232
|
|
NM_001374828.1(ARID1B):c.2581+5G>A
|
rs1554298239
|
|
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)
|
rs1057518045
|
|
NM_001374828.1(ARID1B):c.2582-2A>C
|
rs1057524160
|
|
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)
|
rs1085307695
|
|
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)
|
rs1057518648
|
|
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs)
|
rs1554301230
|
|
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)
|
rs1583368813
|
|
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
|
rs2537640975
|
|
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
|
rs2537641958
|
|
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)
|
rs1554301257
|
|
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
|
rs2537883228
|
|
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val)
|
rs2128633891
|
|
NM_001374828.1(ARID1B):c.2773A>T (p.Arg925Ter)
|
rs1554226001
|
|
NM_001374828.1(ARID1B):c.2797C>T (p.Pro933Ser)
|
|
|
NM_001374828.1(ARID1B):c.2844del (p.Asn949fs)
|
rs2128634170
|
|
NM_001374828.1(ARID1B):c.2849del (p.Asn950fs)
|
|
|
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)
|
rs1168117828
|
|
NM_001374828.1(ARID1B):c.2875C>T (p.Gln959Ter)
|
rs138254872
|
|
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg)
|
rs1554226059
|
|
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)
|
rs794727977
|
|
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
|
rs2128634414
|
|
NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)
|
rs771600870
|
|
NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly)
|
rs1370276287
|
|
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)
|
rs2128634579
|
|
NM_001374828.1(ARID1B):c.2980T>C (p.Ser994Pro)
|
rs1789987002
|
|
NM_001374828.1(ARID1B):c.3007C>A (p.Pro1003Thr)
|
rs1239914614
|
|
NM_001374828.1(ARID1B):c.3029G>T (p.Arg1010Leu)
|
|
|
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)
|
rs1554226145
|
|
NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile)
|
rs2128635041
|
|
NM_001374828.1(ARID1B):c.3101del (p.Phe1034fs)
|
rs2128290268
|
|
NM_001374828.1(ARID1B):c.3126del (p.Met1043fs)
|
rs1791374798
|
|
NM_001374828.1(ARID1B):c.3154C>T (p.Pro1052Ser)
|
rs1791377235
|
|
NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs)
|
rs2538148588
|
|
NM_001374828.1(ARID1B):c.3172A>G (p.Ser1058Gly)
|
rs2128290736
|
|
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys)
|
rs2128290781
|
|
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=)
|
rs537901478
|
|
NM_001374828.1(ARID1B):c.3230_3235+7del
|
rs1583438967
|
|
NM_001374828.1(ARID1B):c.3235+2T>A
|
rs1583439013
|
|
NM_001374828.1(ARID1B):c.3247_3248del (p.Leu1083fs)
|
rs2128303803
|
|
NM_001374828.1(ARID1B):c.3261del (p.Met1087fs)
|
rs2538250313
|
|
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter)
|
rs902091666
|
|
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)
|
rs1583451146
|
|
NM_001374828.1(ARID1B):c.3293_3294del (p.Leu1098fs)
|
|
|
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs)
|
rs1131692263
|
|
NM_001374828.1(ARID1B):c.3308A>G (p.Lys1103Arg)
|
rs2538251595
|
|
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs)
|
rs1791918216
|
|
NM_001374828.1(ARID1B):c.3330del (p.Glu1111fs)
|
|
|
NM_001374828.1(ARID1B):c.3341C>G (p.Ser1114Ter)
|
|
|
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=)
|
rs1583451360
|
|
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn)
|
rs1583451360
|
|
NM_001374828.1(ARID1B):c.3362_3363del (p.Gln1121fs)
|
rs2128305623
|
|
NM_001374828.1(ARID1B):c.3505-2A>G
|
rs2128316571
|
|
NM_001374828.1(ARID1B):c.3527del (p.Thr1176fs)
|
rs2128316690
|
|
NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs)
|
rs2538355363
|
|
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)
|
rs1792478147
|
|
NM_001374828.1(ARID1B):c.3585G>A (p.Trp1195Ter)
|
rs1554231205
|
|
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)
|
rs387907144
|
|
NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter)
|
rs1562328526
|
|
NM_001374828.1(ARID1B):c.3607A>C (p.Met1203Leu)
|
rs760633180
|
|
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)
|
rs1057519009
|
|
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs)
|
rs2128317569
|
|
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter)
|
rs387907141
|
|
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs)
|
rs876657380
|
|
NM_001374828.1(ARID1B):c.3704G>C (p.Gly1235Ala)
|
|
|
NM_001374828.1(ARID1B):c.3714+1G>A
|
rs1554231278
|
|
NM_001374828.1(ARID1B):c.3714+2T>G
|
rs1404726383
|
|
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
|
rs1554231792
|
|
NM_001374828.1(ARID1B):c.3735G>T (p.Trp1245Cys)
|
|
|
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter)
|
rs1583469292
|
|
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)
|
rs1554231836
|
|
NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)
|
rs2128325330
|
|
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs)
|
rs1554231845
|
|
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs)
|
rs2128325428
|
|
NM_001374828.1(ARID1B):c.3827del (p.Glu1276fs)
|
rs2128325440
|
|
NM_001374828.1(ARID1B):c.3901dup (p.Leu1301fs)
|
rs2128325986
|
|
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter)
|
rs1554231904
|
|
NM_001374828.1(ARID1B):c.3906G>C (p.Gln1302His)
|
|
|
NM_001374828.1(ARID1B):c.3917del (p.Pro1306fs)
|
rs1562331655
|
|
NM_001374828.1(ARID1B):c.3924dup (p.Ser1309fs)
|
rs2538498109
|
|
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
|
rs2538498293
|
|
NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter)
|
rs1554232919
|
|
NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter)
|
rs1554232925
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.3967dup (p.Ser1323fs)
|
rs2538499186
|
|
NM_001374828.1(ARID1B):c.4001dup (p.Pro1335fs)
|
rs1554232959
|
|
NM_001374828.1(ARID1B):c.4028del (p.His1343fs)
|
|
|
NM_001374828.1(ARID1B):c.4058+1G>C
|
rs1057518691
|
|
NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter)
|
rs772973856
|
|
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs)
|
rs1554233122
|
|
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter)
|
rs1182325800
|
|
NM_001374828.1(ARID1B):c.4171G>A (p.Asp1391Asn)
|
|
|
NM_001374828.1(ARID1B):c.4205dup (p.Asp1403fs)
|
|
|
NM_001374828.1(ARID1B):c.4215del (p.Phe1405fs)
|
rs2128339990
|
|
NM_001374828.1(ARID1B):c.4232-1G>A
|
rs2128355925
|
|
NM_001374828.1(ARID1B):c.4234_4237del (p.Pro1412fs)
|
|
|
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg)
|
rs1453138221
|
|
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs)
|
rs1583491381
|
|
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter)
|
rs1554234341
|
|
NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter)
|
rs387907140
|
|
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)
|
rs1583491515
|
|
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)
|
rs1554234402
|
|
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter)
|
rs773740590
|
|
NM_001374828.1(ARID1B):c.4383-1G>A
|
rs886044620
|
|
NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer)
|
rs2538639034
|
|
NM_001374828.1(ARID1B):c.4397G>A (p.Gly1466Glu)
|
|
|
NM_001374828.1(ARID1B):c.4400dup (p.Gln1468fs)
|
rs2538639222
|
|
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter)
|
rs748363079
|
|
NM_001374828.1(ARID1B):c.4442_4443dup (p.Gly1482fs)
|
rs2538640861
|
|
NM_001374828.1(ARID1B):c.4444_4445dup (p.Gly1483fs)
|
rs2128366431
|
|
NM_001374828.1(ARID1B):c.4478del (p.Pro1493fs)
|
rs2128366725
|
|
NM_001374828.1(ARID1B):c.4479+1G>T
|
rs1554235041
|
|
NM_001374828.1(ARID1B):c.4479+2T>C
|
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4480-8A>G
|
rs1252519291
|
|
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)
|
rs2538669304
|
|
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter)
|
rs377021700
|
|
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)
|
rs1554235505
|
|
NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)
|
rs1049209609
|
|
NM_001374828.1(ARID1B):c.4530dup (p.Glu1511fs)
|
rs2128372410
|
|
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter)
|
rs1554235541
|
|
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
|
rs1794042593
|
|
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)
|
rs1794042593
|
|
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys)
|
rs1554235555
|
|
NM_001374828.1(ARID1B):c.4593_4594del (p.Gly1532fs)
|
rs2128372755
|
|
NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs)
|
rs2128372930
|
|
NM_001374828.1(ARID1B):c.4637A>G (p.Tyr1546Cys)
|
rs1794051416
|
|
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
|
rs2128373069
|
|
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs)
|
rs879253746
|
|
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
|
rs2538674041
|
|
NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser)
|
rs2538674514
|
|
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs)
|
rs1794053879
|
|
NM_001374828.1(ARID1B):c.4692C>A (p.His1564Gln)
|
rs917868982
|
|
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)
|
rs797045278
|
|
NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val)
|
rs1794058864
|
|
NM_001374828.1(ARID1B):c.4726C>T (p.Gln1576Ter)
|
|
|
NM_001374828.1(ARID1B):c.4763G>A (p.Trp1588Ter)
|
|
|
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
|
rs2538677887
|
|
NM_001374828.1(ARID1B):c.4785T>G (p.Pro1595=)
|
rs2538678250
|
|
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter)
|
rs1562345819
|
|
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
|
rs1380267781
|
|
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs)
|
rs2128374043
|
|
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)
|
rs1064793482
|
|
NM_001374828.1(ARID1B):c.4870dup (p.Val1624fs)
|
rs2128374526
|
|
NM_001374828.1(ARID1B):c.4889del (p.Asn1630fs)
|
rs2128374644
|
|
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys)
|
rs1340183572
|
|
NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter)
|
rs1554235834
|
|
NM_001374828.1(ARID1B):c.4911dup (p.His1638fs)
|
rs2538681872
|
|
NM_001374828.1(ARID1B):c.4921C>T (p.Gln1641Ter)
|
rs1554235841
|
|
NM_001374828.1(ARID1B):c.4968_4969del (p.Arg1657fs)
|
rs2538683847
|
|
NM_001374828.1(ARID1B):c.4991_5000del (p.Gln1664fs)
|
rs876657382
|
|
NM_001374828.1(ARID1B):c.5026G>T (p.Ala1676Ser)
|
rs1794096456
|
|
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
|
rs1554235916
|
|
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1])
|
rs767952510
|
|
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val)
|
rs1794104878
|
|
NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys)
|
rs976192470
|
|
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)
|
rs2538690501
|
|
NM_001374828.1(ARID1B):c.519CCA[8] (p.His178_His179dup)
|
rs754114025
|
|
NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter)
|
rs1554236027
|
|
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)
|
rs1583502875
|
|
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
|
rs1554236040
|
|
NM_001374828.1(ARID1B):c.5258del (p.Asp1753fs)
|
rs1562347066
|
|
NM_001374828.1(ARID1B):c.5263+1G>T
|
rs2128377544
|
|
NM_001374828.1(ARID1B):c.5264-2A>G
|
rs1794274425
|
|
NM_001374828.1(ARID1B):c.5276dup (p.Trp1760fs)
|
rs2538725903
|
|
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)
|
rs1794276185
|
|
NM_001374828.1(ARID1B):c.5285_5294delinsAGA (p.Val1762fs)
|
rs2128385309
|
|
NM_001374828.1(ARID1B):c.5323A>G (p.Thr1775Ala)
|
rs2538726732
|
|
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs)
|
rs2128385522
|
|
NM_001374828.1(ARID1B):c.5394+1G>A
|
rs1057518984
|
|
NM_001374828.1(ARID1B):c.5394+3A>C
|
rs1794283740
|
|
NM_001374828.1(ARID1B):c.5395-1G>A
|
rs2538754639
|
|
NM_001374828.1(ARID1B):c.5395-2A>C
|
rs1562350940
|
|
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
|
rs2538754819
|
|
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs)
|
rs2128391037
|
|
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs)
|
rs1794427847
|
|
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
|
rs2538755076
|
|
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs)
|
rs797045279
|
|
NM_001374828.1(ARID1B):c.5496del (p.Ala1833fs)
|
rs2128391447
|
|
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs)
|
rs797045280
|
|
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs)
|
rs797045281
|
|
NM_001374828.1(ARID1B):c.5548G>C (p.Asp1850His)
|
rs771781497
|
|
NM_001374828.1(ARID1B):c.5570A>G (p.Asp1857Gly)
|
rs2538758120
|
|
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs)
|
rs2128392250
|
|
NM_001374828.1(ARID1B):c.5633_5636del (p.Thr1878fs)
|
rs2128392335
|
|
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)
|
rs1794456297
|
|
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)
|
rs1583513256
|
|
NM_001374828.1(ARID1B):c.5693del (p.Lys1898fs)
|
rs2538761879
|
|
NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter)
|
rs387907143
|
|
NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter)
|
rs750447037
|
|
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
|
rs2538762702
|
|
NM_001374828.1(ARID1B):c.5754C>G (p.Asn1918Lys)
|
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
|
rs1554237332
|
|
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter)
|
rs1554237335
|
|
NM_001374828.1(ARID1B):c.5840del (p.Gly1947fs)
|
rs2128393408
|
|
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)
|
rs1451259945
|
|
NM_001374828.1(ARID1B):c.5856_5857del (p.Ile1953fs)
|
|
|
NM_001374828.1(ARID1B):c.5867_5872delinsC (p.His1956fs)
|
rs2538766341
|
|
NM_001374828.1(ARID1B):c.586T>C (p.Phe196Leu)
|
rs2546821961
|
|
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)
|
rs1369594791
|
|
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu)
|
rs758748419
|
|
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs)
|
rs2128393700
|
|
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs)
|
rs35441529
|
|
NM_001374828.1(ARID1B):c.591GCA[11] (p.Gln214_His215insGlnGlnGlnGln)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro)
|
rs1263775695
|
|
NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)
|
rs183921218
|
|
NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser)
|
rs183921218
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
NM_001374828.1(ARID1B):c.5963_5964del (p.Asp1987_Ser1988insTer)
|
rs2538768546
|
|
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs)
|
rs876657381
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly)
|
rs1794492217
|
|
NM_001374828.1(ARID1B):c.6058del (p.Gln2020fs)
|
rs2128394491
|
|
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)
|
rs886041878
|
|
NM_001374828.1(ARID1B):c.6085_6086del (p.Gly2029fs)
|
rs2128394615
|
|
NM_001374828.1(ARID1B):c.6094del (p.Gln2032fs)
|
rs2128394676
|
|
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
|
rs2538772819
|
|
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
|
rs1554247377
|
|
NM_001374828.1(ARID1B):c.612_620del (p.Gln212_Gln214del)
|
rs797045274
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
|
rs2538775159
|
|
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)
|
rs1028186690
|
|
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
|
rs2128395673
|
|
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter)
|
rs2128395778
|
|
NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu)
|
rs2128395778
|
|
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)
|
rs1583516082
|
|
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
|
rs2538779301
|
|
NM_001374828.1(ARID1B):c.6319G>A (p.Glu2107Lys)
|
rs786205584
|
|
NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter)
|
rs786205584
|
|
NM_001374828.1(ARID1B):c.6334_6335del (p.Lys2112fs)
|
rs1554237785
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
|
rs2538781228
|
|
NM_001374828.1(ARID1B):c.6362_6363del (p.Glu2121fs)
|
rs2538781275
|
|
NM_001374828.1(ARID1B):c.6377dup (p.Val2128fs)
|
rs2128396622
|
|
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
|
rs2538782467
|
|
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)
|
rs1554237850
|
|
NM_001374828.1(ARID1B):c.6412del (p.Asp2138fs)
|
rs2128396828
|
|
NM_001374828.1(ARID1B):c.6451_6453del (p.Leu2151del)
|
rs2538783302
|
|
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter)
|
rs869312697
|
|
NM_001374828.1(ARID1B):c.6496A>G (p.Ser2166Gly)
|
rs746220769
|
|
NM_001374828.1(ARID1B):c.6497dup (p.Ser2166fs)
|
rs2128397334
|
|
NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr)
|
rs2128397469
|
|
NM_001374828.1(ARID1B):c.6533G>A (p.Trp2178Ter)
|
|
|
NM_001374828.1(ARID1B):c.6567del (p.Pro2191fs)
|
rs2128397593
|
|
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe)
|
rs1794548648
|
|
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs)
|
rs1794549840
|
|
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)
|
rs1794550318
|
|
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
|
rs1554237988
|
|
NM_001374828.1(ARID1B):c.6623_6650dup (p.Asn2217_Asn2218insProLeuTer)
|
rs1554237992
|
|
NM_001374828.1(ARID1B):c.6624_6625del (p.Leu2209_Cys2210insTer)
|
rs886040958
|
|
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)
|
rs1554238035
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001374828.1(ARID1B):c.6762del (p.Met2255fs)
|
rs2538789882
|
|
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)
|
rs2128398457
|
|
NM_001374828.1(ARID1B):c.6793del (p.Asp2265fs)
|
|
|
NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs)
|
rs876657379
|
|
NM_001374828.1(ARID1B):c.6834C>G (p.Ser2278Arg)
|
rs1794564510
|
|
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs)
|
rs1562354784
|
|
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs)
|
rs2128398868
|
|
NM_001374828.1(ARID1B):c.6880C>T (p.Gln2294Ter)
|
rs1554238124
|
|
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter)
|
rs758120346
|
|
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs)
|
rs1583518354
|
|
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs)
|
rs1794570475
|
|
NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs)
|
rs2538793280
|
|
NM_001374828.1(ARID1B):c.6929del (p.Leu2310fs)
|
|
|
NM_001374828.1(ARID1B):c.6935del (p.Pro2312fs)
|
rs2128399165
|
|
NM_001374828.1(ARID1B):c.6946_6947del (p.Asp2316fs)
|
|
|
NM_001374828.1(ARID1B):c.6997G>T (p.Glu2333Ter)
|
rs756960968
|
|
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu)
|
rs146468586
|
|
NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp)
|
rs1390972891
|
|
NM_001374828.1(ARID1B):c.7046C>T (p.Ser2349Leu)
|
rs1263114512
|
|
NM_001374828.1(ARID1B):c.7052C>A (p.Ser2351Ter)
|
rs1794583960
|
|
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter)
|
rs1794583960
|
|
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)
|
rs1794584714
|
|
NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs)
|
rs1562355401
|
|
NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)
|
rs1171803835
|
|
NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu)
|
rs1171803835
|
|
NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr)
|
rs1323525221
|
|
NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro)
|
rs1554247605
|
|
NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu)
|
rs1439723202
|
|
NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter)
|
rs2546829263
|
|
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=)
|
rs745740327
|
|
NM_001394372.1(BICRA):c.3313C>T (p.Pro1105Ser)
|
|
|
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr)
|
rs1554618664
|
|
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg)
|
rs281875202
|
|
NM_003072.5(SMARCA4):c.*34C>G
|
rs780956095
|
|
NM_003072.5(SMARCA4):c.-32+11C>T
|
rs886054150
|
|
NM_003072.5(SMARCA4):c.120C>T (p.His40=)
|
rs375884151
|
|
NM_003072.5(SMARCA4):c.1761+6C>T
|
rs886054152
|
|
NM_003072.5(SMARCA4):c.1944-12C>T
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.2194T>G (p.Tyr732Asp)
|
|
|
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn)
|
rs886054153
|
|
NM_003072.5(SMARCA4):c.2616+14G>T
|
rs886054154
|
|
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=)
|
rs372931195
|
|
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg)
|
rs1568566518
|
|
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His)
|
rs1568422604
|
|
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu)
|
rs886054151
|
|
NM_003073.5(SMARCB1):c.*12_*14dup
|
rs779825754
|
|
NM_003073.5(SMARCB1):c.*70C>T
|
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003073.5(SMARCB1):c.1119-12C>G
|
rs1295969050
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)
|
rs752910574
|
|
NM_003073.5(SMARCB1):c.796-1G>A
|
rs2146026614
|
|
NM_003073.5(SMARCB1):c.93+559A>G
|
|
|
NM_003073.5(SMARCB1):c.986+2T>C
|
rs2030331202
|
|
NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe)
|
rs576492044
|
|
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro)
|
rs749901648
|
|
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup)
|
rs777773061
|
|
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu)
|
rs2081008426
|
|
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)
|
rs1553152590
|
|
NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu)
|
rs2081052495
|
|
NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs)
|
rs2081053573
|
|
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)
|
rs797045262
|
|
NM_006015.6(ARID1A):c.3344C>G (p.Pro1115Arg)
|
|
|
NM_006015.6(ARID1A):c.3487C>T (p.Pro1163Ser)
|
rs2124104504
|
|
NM_006015.6(ARID1A):c.3902G>A (p.Ser1301Asn)
|
|
|
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)
|
rs387906846
|
|
NM_006015.6(ARID1A):c.6163A>G (p.Met2055Val)
|
|
|
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp)
|
rs1553153771
|
|
NM_006015.6(ARID1A):c.908G>C (p.Ser303Thr)
|
|
|
NM_006268.5(DPF2):c.433G>A (p.Glu145Lys)
|
|
|
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)
|
rs1555031372
|
|
NM_024773.3(KDM8):c.1086+14_1086+21del
|
rs773887912
|
|
NM_152641.4(ARID2):c.1822A>G (p.Ile608Val)
|
|
|
NM_152641.4(ARID2):c.2842C>T (p.Leu948Phe)
|
|
|
NM_152641.4(ARID2):c.2927C>G (p.Pro976Arg)
|
rs1320142801
|
|
NM_152641.4(ARID2):c.2974T>A (p.Ser992Thr)
|
|
|
NM_152641.4(ARID2):c.3964A>T (p.Ile1322Phe)
|
|
|