NM_001330288.2(SMARCC2):c.708+46A>C
|
rs773644
|
0.93552
|
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=)
|
rs3734441
|
0.52321
|
NM_001374828.1(ARID1B):c.2248-35G>A
|
rs3734440
|
0.46405
|
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_001374828.1(ARID1B):c.4383-7A>G
|
rs112318565
|
0.14423
|
NM_003072.5(SMARCA4):c.1944-19G>T
|
rs74942410
|
0.06144
|
NM_006015.6(ARID1A):c.3199-95A>G
|
rs76490152
|
0.06005
|
NM_006015.6(ARID1A):c.2420-18G>C
|
rs34681611
|
0.05742
|
NM_006015.6(ARID1A):c.1351-22A>C
|
rs41303629
|
0.05601
|
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_003076.5(SMARCD1):c.178-9C>T
|
rs2307082
|
0.03749
|
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=)
|
rs17001073
|
0.03431
|
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
|
0.01518
|
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val)
|
rs17318151
|
0.01456
|
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=)
|
rs149573400
|
0.01397
|
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
|
0.01001
|
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=)
|
rs61745451
|
0.00966
|
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)
|
rs112545413
|
0.00927
|
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)
|
rs146141457
|
0.00837
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=)
|
rs112703040
|
0.00799
|
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser)
|
rs114201726
|
0.00727
|
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)
|
rs149518409
|
0.00727
|
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser)
|
rs61756316
|
0.00698
|
NM_001374828.1(ARID1B):c.2137-3T>A
|
rs116661275
|
0.00673
|
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser)
|
rs34786733
|
0.00590
|
NM_003072.5(SMARCA4):c.2002-19T>C
|
rs111899994
|
0.00578
|
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_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00508
|
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)
|
rs375160616
|
0.00475
|
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)
|
rs149633292
|
0.00468
|
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)
|
rs114882905
|
0.00462
|
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=)
|
rs139505007
|
0.00434
|
NM_003072.5(SMARCA4):c.3547-11T>C
|
rs190104006
|
0.00408
|
NM_003072.5(SMARCA4):c.1119-12C>T
|
rs113870824
|
0.00387
|
NM_001374828.1(ARID1B):c.3235+6C>T
|
rs148976215
|
0.00384
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
NM_003072.5(SMARCA4):c.1140C>T (p.His380=)
|
rs114594206
|
0.00372
|
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=)
|
rs116540923
|
0.00363
|
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=)
|
rs150010654
|
0.00340
|
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=)
|
rs151274586
|
0.00329
|
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=)
|
rs142391292
|
0.00312
|
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=)
|
rs146240413
|
0.00310
|
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=)
|
rs141783755
|
0.00304
|
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.2275-3C>A
|
rs117611401
|
0.00243
|
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)
|
rs113955216
|
0.00241
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00233
|
NM_006015.6(ARID1A):c.1188C>T (p.Gly396=)
|
rs61749356
|
0.00229
|
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=)
|
rs112474841
|
0.00209
|
NM_003072.5(SMARCA4):c.*1G>T
|
rs76118382
|
0.00205
|
NM_003072.5(SMARCA4):c.4768+10G>A
|
rs201665695
|
0.00200
|
NM_006015.6(ARID1A):c.318C>T (p.Asn106=)
|
rs551186176
|
0.00196
|
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=)
|
rs61761958
|
0.00191
|
NM_003072.5(SMARCA4):c.-72C>T
|
rs559144002
|
0.00190
|
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=)
|
rs61736269
|
0.00189
|
NM_003072.5(SMARCA4):c.*401G>A
|
rs559071626
|
0.00189
|
NM_006015.6(ARID1A):c.135C>T (p.Ala45=)
|
rs892415319
|
0.00168
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
NM_001374828.1(ARID1B):c.3714+11G>A
|
rs368322992
|
0.00159
|
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=)
|
rs61761957
|
0.00158
|
NM_006015.6(ARID1A):c.1351-82C>T
|
rs41303627
|
0.00158
|
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)
|
rs115992445
|
0.00153
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)
|
rs145867502
|
0.00116
|
NM_003072.5(SMARCA4):c.*327T>C
|
rs146968124
|
0.00112
|
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)
|
rs140946580
|
0.00112
|
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.4869G>A (p.Ser1623=)
|
rs148936933
|
0.00106
|
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=)
|
rs149562732
|
0.00103
|
NM_006015.6(ARID1A):c.4152C>T (p.His1384=)
|
rs149908828
|
0.00100
|
NM_006015.6(ARID1A):c.3716-7C>T
|
rs150792057
|
0.00090
|
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser)
|
rs567246585
|
0.00088
|
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly)
|
rs149841055
|
0.00081
|
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser)
|
rs140177120
|
0.00079
|
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=)
|
rs148495641
|
0.00079
|
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser)
|
rs536658556
|
0.00076
|
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr)
|
rs147784000
|
0.00071
|
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val)
|
rs530780611
|
0.00068
|
NM_006015.6(ARID1A):c.162C>T (p.Ala54=)
|
rs1001634270
|
0.00068
|
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=)
|
rs148749268
|
0.00067
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00066
|
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=)
|
rs184815562
|
0.00064
|
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=)
|
rs142429183
|
0.00061
|
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=)
|
rs138814830
|
0.00060
|
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_006015.6(ARID1A):c.1716G>A (p.Thr572=)
|
rs147554664
|
0.00055
|
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)
|
rs149874634
|
0.00051
|
NM_003072.5(SMARCA4):c.2817C>T (p.Phe939=)
|
rs147791182
|
0.00047
|
NM_003072.5(SMARCA4):c.4171-13A>G
|
rs201298366
|
0.00047
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)
|
rs62639303
|
0.00044
|
NM_006015.6(ARID1A):c.2615T>C (p.Met872Thr)
|
rs140568310
|
0.00040
|
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)
|
rs139943231
|
0.00039
|
NM_006015.6(ARID1A):c.393G>C (p.Gly131=)
|
rs768590350
|
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_006015.6(ARID1A):c.5076C>T (p.Asn1692=)
|
rs149468118
|
0.00038
|
NM_006268.5(DPF2):c.302-11C>T
|
rs373181445
|
0.00038
|
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)
|
rs1450163641
|
0.00036
|
NM_003072.5(SMARCA4):c.*25C>T
|
rs189436737
|
0.00034
|
NM_003072.5(SMARCA4):c.2973+14G>A
|
rs372877301
|
0.00034
|
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)
|
rs140978841
|
0.00033
|
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala)
|
rs151074395
|
0.00032
|
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=)
|
rs200122106
|
0.00031
|
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
|
rs201879930
|
0.00030
|
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)
|
rs113718290
|
0.00030
|
NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=)
|
rs146598030
|
0.00029
|
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser)
|
rs139576809
|
0.00029
|
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=)
|
rs138764713
|
0.00028
|
NM_003072.5(SMARCA4):c.1245+18C>T
|
rs376247014
|
0.00027
|
NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=)
|
rs144272459
|
0.00027
|
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_006015.6(ARID1A):c.1131C>T (p.Thr377=)
|
rs532591067
|
0.00026
|
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val)
|
rs138482029
|
0.00025
|
NM_006015.6(ARID1A):c.1803+9T>C
|
rs371726505
|
0.00025
|
NM_001374828.1(ARID1B):c.2379T>C (p.His793=)
|
rs370364530
|
0.00024
|
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=)
|
rs183572405
|
0.00023
|
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=)
|
rs145435121
|
0.00023
|
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=)
|
rs779283100
|
0.00023
|
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp)
|
rs139125255
|
0.00022
|
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_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)
|
rs1455234951
|
0.00019
|
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln)
|
rs148530368
|
0.00019
|
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)
|
rs776745618
|
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_003072.5(SMARCA4):c.425G>T (p.Gly142Val)
|
rs145749221
|
0.00017
|
NM_006015.6(ARID1A):c.759C>G (p.Pro253=)
|
rs747694475
|
0.00017
|
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=)
|
rs201372858
|
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_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val)
|
rs201137071
|
0.00014
|
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=)
|
rs183695281
|
0.00014
|
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg)
|
rs201030061
|
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
|
0.00013
|
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)
|
rs199634608
|
0.00012
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=)
|
rs2288845
|
0.00011
|
NM_006015.6(ARID1A):c.2988+36G>A
|
rs372175005
|
0.00011
|
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.4011C>T (p.Leu1337=)
|
rs377720149
|
0.00010
|
NM_003072.5(SMARCA4):c.655A>G (p.Thr219Ala)
|
rs774085664
|
0.00010
|
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)
|
rs542193901
|
0.00010
|
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=)
|
rs754242891
|
0.00009
|
NM_003072.5(SMARCA4):c.1812+3G>A
|
rs371562008
|
0.00009
|
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)
|
rs371056395
|
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_003073.5(SMARCB1):c.628+1487A>G
|
rs185591492
|
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.4344C>T (p.Ala1448=)
|
rs200087760
|
0.00008
|
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg)
|
rs558739370
|
0.00008
|
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=)
|
rs28997581
|
0.00007
|
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu)
|
rs371045201
|
0.00007
|
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)
|
rs752026201
|
0.00007
|
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_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.1287G>A (p.Ala429=)
|
rs143600641
|
0.00006
|
NM_003072.5(SMARCA4):c.1419+5G>A
|
rs199814381
|
0.00006
|
NM_003072.5(SMARCA4):c.2438+10C>T
|
rs370782232
|
0.00006
|
NM_003072.5(SMARCA4):c.3383-5G>A
|
rs762528243
|
0.00006
|
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu)
|
rs762023872
|
0.00006
|
NM_003072.5(SMARCA4):c.4884C>G (p.Asp1628Glu)
|
rs778856307
|
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_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)
|
rs367889013
|
0.00006
|
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val)
|
rs755338885
|
0.00006
|
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=)
|
rs751166438
|
0.00005
|
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met)
|
rs377119410
|
0.00005
|
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln)
|
rs375672575
|
0.00005
|
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser)
|
rs187631645
|
0.00005
|
NM_001330288.2(SMARCC2):c.2716-3del
|
rs778570250
|
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.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.1847C>T (p.Pro616Leu)
|
rs755935365
|
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.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.3358G>A (p.Gly1120Ser)
|
rs373590049
|
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.3765G>A (p.Glu1255=)
|
rs183060137
|
0.00004
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
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.4585G>A (p.Val1529Ile)
|
rs777829717
|
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.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_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys)
|
rs377136485
|
0.00004
|
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)
|
rs771308672
|
0.00004
|
NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=)
|
rs753683399
|
0.00004
|
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)
|
rs749315126
|
0.00003
|
NM_001374828.1(ARID1B):c.1987-29738G>T
|
rs201653711
|
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_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val)
|
rs186823009
|
0.00003
|
NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr)
|
rs111491424
|
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.223-7C>G
|
rs762146990
|
0.00003
|
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=)
|
rs369724341
|
0.00003
|
NM_003072.5(SMARCA4):c.2974-4G>A
|
rs766593089
|
0.00003
|
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=)
|
rs149111403
|
0.00003
|
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser)
|
rs200007170
|
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.3874-3T>C
|
rs370679578
|
0.00003
|
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)
|
rs143950084
|
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.4533+5C>T
|
rs778368597
|
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.4826T>C (p.Leu1609Pro)
|
rs755493468
|
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_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr)
|
rs199776442
|
0.00003
|
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs)
|
rs752788954
|
0.00002
|
NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr)
|
rs772189962
|
0.00002
|
NM_001330288.2(SMARCC2):c.640A>G (p.Thr214Ala)
|
rs776717020
|
0.00002
|
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg)
|
rs1401971317
|
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.3752A>G (p.Asn1251Ser)
|
rs1408001716
|
0.00002
|
NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu)
|
rs962264300
|
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.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=)
|
rs374167170
|
0.00002
|
NM_003072.5(SMARCA4):c.1119-3C>T
|
rs747149353
|
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.1968T>C (p.Asp656=)
|
rs750161079
|
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.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.3799G>A (p.Gly1267Ser)
|
rs764152134
|
0.00002
|
NM_003072.5(SMARCA4):c.3873+6del
|
rs751936459
|
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.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
NM_003072.5(SMARCA4):c.4593C>T (p.Leu1531=)
|
rs757189400
|
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.4872G>A (p.Pro1624=)
|
rs182644267
|
0.00002
|
NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His)
|
rs867536416
|
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.940G>A (p.Ala314Thr)
|
rs764188556
|
0.00002
|
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg)
|
rs775843321
|
0.00002
|
NM_003073.5(SMARCB1):c.-149C>T
|
rs886057282
|
0.00002
|
NM_003076.5(SMARCD1):c.566C>G (p.Thr189Ser)
|
rs762741274
|
0.00002
|
NM_003108.4(SOX11):c.538G>A (p.Ala180Thr)
|
rs1297634063
|
0.00002
|
NM_003108.4(SOX11):c.701A>G (p.Glu234Gly)
|
rs751660162
|
0.00002
|
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val)
|
rs1295137307
|
0.00002
|
NM_006015.6(ARID1A):c.1430A>G (p.His477Arg)
|
rs757458581
|
0.00002
|
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu)
|
rs969170076
|
0.00002
|
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His)
|
rs752827461
|
0.00002
|
NM_006268.5(DPF2):c.1169C>A (p.Ser390Tyr)
|
rs765632713
|
0.00002
|
NM_001330288.2(SMARCC2):c.1744-2A>G
|
rs1025329696
|
0.00001
|
NM_001330288.2(SMARCC2):c.2204A>G (p.Lys735Arg)
|
rs1328302930
|
0.00001
|
NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe)
|
rs1203017760
|
0.00001
|
NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp)
|
rs776778840
|
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.1557C>G (p.Ser519Arg)
|
rs1583026835
|
0.00001
|
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr)
|
rs1296293849
|
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.2729dup (p.Tyr910Ter)
|
rs1314750809
|
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.4609C>G (p.Pro1537Ala)
|
rs140639463
|
0.00001
|
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val)
|
rs752961325
|
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.6784G>A (p.Ala2262Thr)
|
rs1413279513
|
0.00001
|
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp)
|
rs920305028
|
0.00001
|
NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys)
|
rs1327727725
|
0.00001
|
NM_001394372.1(BICRA):c.4565C>T (p.Ser1522Leu)
|
rs1186261410
|
0.00001
|
NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu)
|
rs1599846930
|
0.00001
|
NM_003072.5(SMARCA4):c.*346G>A
|
rs754087248
|
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.1013A>G (p.Gln338Arg)
|
rs757896781
|
0.00001
|
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)
|
rs777628688
|
0.00001
|
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His)
|
rs1018881303
|
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.1135G>A (p.Ala379Thr)
|
rs769660597
|
0.00001
|
NM_003072.5(SMARCA4):c.1199C>T (p.Ala400Val)
|
rs1246299696
|
0.00001
|
NM_003072.5(SMARCA4):c.1204A>G (p.Ile402Val)
|
rs750861625
|
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.140C>T (p.Pro47Leu)
|
rs1284152280
|
0.00001
|
NM_003072.5(SMARCA4):c.1477G>A (p.Val493Ile)
|
rs372078902
|
0.00001
|
NM_003072.5(SMARCA4):c.1533G>A (p.Thr511=)
|
rs1415983739
|
0.00001
|
NM_003072.5(SMARCA4):c.163C>T (p.Pro55Ser)
|
rs1218848193
|
0.00001
|
NM_003072.5(SMARCA4):c.1695G>A (p.Thr565=)
|
rs1173206989
|
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.178G>A (p.Gly60Arg)
|
rs1307434805
|
0.00001
|
NM_003072.5(SMARCA4):c.1796T>C (p.Ile599Thr)
|
rs1207080512
|
0.00001
|
NM_003072.5(SMARCA4):c.1813-15A>G
|
rs751661108
|
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.1909G>A (p.Gly637Arg)
|
rs917552239
|
0.00001
|
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val)
|
rs587778680
|
0.00001
|
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu)
|
rs2087817276
|
0.00001
|
NM_003072.5(SMARCA4):c.1958C>T (p.Pro653Leu)
|
rs774927302
|
0.00001
|
NM_003072.5(SMARCA4):c.1982G>A (p.Gly661Asp)
|
rs367689657
|
0.00001
|
NM_003072.5(SMARCA4):c.2001+5G>A
|
rs780996751
|
0.00001
|
NM_003072.5(SMARCA4):c.2002-4G>A
|
rs746254916
|
0.00001
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
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.2086G>A (p.Asp696Asn)
|
rs1486794288
|
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.2124-5C>A
|
rs182602020
|
0.00001
|
NM_003072.5(SMARCA4):c.2157C>T (p.Gly719=)
|
rs756240718
|
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.220A>C (p.Lys74Gln)
|
rs1060502059
|
0.00001
|
NM_003072.5(SMARCA4):c.2257G>A (p.Val753Ile)
|
rs1483352845
|
0.00001
|
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=)
|
rs762449855
|
0.00001
|
NM_003072.5(SMARCA4):c.2438+4A>C
|
rs771818596
|
0.00001
|
NM_003072.5(SMARCA4):c.2456C>T (p.Ala819Val)
|
rs1276140261
|
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.2506-3C>T
|
rs1060502095
|
0.00001
|
NM_003072.5(SMARCA4):c.251T>C (p.Met84Thr)
|
rs998875986
|
0.00001
|
NM_003072.5(SMARCA4):c.2541G>C (p.Gln847His)
|
rs1064796361
|
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.2616+5C>T
|
rs763025766
|
0.00001
|
NM_003072.5(SMARCA4):c.2637T>C (p.Ile879=)
|
rs369795542
|
0.00001
|
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His)
|
rs755987663
|
0.00001
|
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=)
|
rs767915497
|
0.00001
|
NM_003072.5(SMARCA4):c.3005C>T (p.Ala1002Val)
|
rs1350288991
|
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.3086A>G (p.Lys1029Arg)
|
rs1288014090
|
0.00001
|
NM_003072.5(SMARCA4):c.308A>G (p.His103Arg)
|
rs770147215
|
0.00001
|
NM_003072.5(SMARCA4):c.3216-5T>A
|
rs1555781739
|
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.3350C>T (p.Ala1117Val)
|
rs755069412
|
0.00001
|
NM_003072.5(SMARCA4):c.3356G>A (p.Arg1119His)
|
rs370466670
|
0.00001
|
NM_003072.5(SMARCA4):c.335C>T (p.Pro112Leu)
|
rs1057523400
|
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.3437G>A (p.Gly1146Asp)
|
rs566531015
|
0.00001
|
NM_003072.5(SMARCA4):c.344A>G (p.Gln115Arg)
|
rs1268937748
|
0.00001
|
NM_003072.5(SMARCA4):c.3528C>T (p.Ser1176=)
|
rs573885719
|
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.35C>T (p.Pro12Leu)
|
rs1201812441
|
0.00001
|
NM_003072.5(SMARCA4):c.3775-12A>G
|
rs770956288
|
0.00001
|
NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile)
|
rs587778685
|
0.00001
|
NM_003072.5(SMARCA4):c.3904G>A (p.Val1302Ile)
|
rs1185321977
|
0.00001
|
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)
|
rs587779750
|
0.00001
|
NM_003072.5(SMARCA4):c.3951+6C>T
|
rs759241380
|
0.00001
|
NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe)
|
rs1057520203
|
0.00001
|
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val)
|
rs1221798183
|
0.00001
|
NM_003072.5(SMARCA4):c.4067G>A (p.Arg1356Gln)
|
rs1204091534
|
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.4185C>T (p.Gly1395=)
|
rs889180299
|
0.00001
|
NM_003072.5(SMARCA4):c.4187C>T (p.Thr1396Met)
|
rs1262500025
|
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.422C>T (p.Ser141Leu)
|
rs1060502073
|
0.00001
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
NM_003072.5(SMARCA4):c.4251C>T (p.Ser1417=)
|
rs377057304
|
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.4354T>C (p.Ser1452Pro)
|
rs1267513562
|
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.4533+6C>A
|
rs1311909722
|
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.455C>T (p.Ala152Val)
|
rs777272957
|
0.00001
|
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)
|
rs539710314
|
0.00001
|
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu)
|
rs1057523990
|
0.00001
|
NM_003072.5(SMARCA4):c.4681C>T (p.Arg1561Trp)
|
rs749700321
|
0.00001
|
NM_003072.5(SMARCA4):c.4696A>G (p.Lys1566Glu)
|
rs1470609623
|
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.4771C>T (p.Arg1591Trp)
|
rs1303089960
|
0.00001
|
NM_003072.5(SMARCA4):c.4772G>A (p.Arg1591Gln)
|
rs1356932636
|
0.00001
|
NM_003072.5(SMARCA4):c.4777G>A (p.Val1593Ile)
|
rs753578157
|
0.00001
|
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met)
|
rs1568565611
|
0.00001
|
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln)
|
rs1484835507
|
0.00001
|
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg)
|
rs878854231
|
0.00001
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
NM_003072.5(SMARCA4):c.4844G>A (p.Arg1615Gln)
|
rs1278313953
|
0.00001
|
NM_003072.5(SMARCA4):c.4862G>A (p.Arg1621Gln)
|
rs964459864
|
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.4911+1G>A
|
rs1341783002
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+5G>A
|
rs534705500
|
0.00001
|
NM_003072.5(SMARCA4):c.4912-4C>A
|
rs1555797433
|
0.00001
|
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys)
|
rs776222414
|
0.00001
|
NM_003072.5(SMARCA4):c.499C>T (p.Arg167Trp)
|
rs11537673
|
0.00001
|
NM_003072.5(SMARCA4):c.505C>T (p.Pro169Ser)
|
rs142886157
|
0.00001
|
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=)
|
rs529632222
|
0.00001
|
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val)
|
rs780497718
|
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.630G>T (p.Met210Ile)
|
rs1043452739
|
0.00001
|
NM_003072.5(SMARCA4):c.648G>C (p.Gln216His)
|
rs878854236
|
0.00001
|
NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu)
|
rs1227659334
|
0.00001
|
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)
|
rs533671711
|
0.00001
|
NM_003072.5(SMARCA4):c.682A>G (p.Thr228Ala)
|
rs1021610405
|
0.00001
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
NM_003072.5(SMARCA4):c.748A>G (p.Ser250Gly)
|
rs774511507
|
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.805C>T (p.Pro269Ser)
|
rs759641262
|
0.00001
|
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg)
|
rs769414440
|
0.00001
|
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)
|
rs767947665
|
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.872A>T (p.Asn291Ile)
|
rs751791309
|
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.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.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
NM_003072.5(SMARCA4):c.979C>A (p.Pro327Thr)
|
rs770946823
|
0.00001
|
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu)
|
rs370097699
|
0.00001
|
NM_003073.5(SMARCB1):c.1118+6C>G
|
rs200675113
|
0.00001
|
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His)
|
rs387906812
|
0.00001
|
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser)
|
rs763872301
|
0.00001
|
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala)
|
rs771639613
|
0.00001
|
NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg)
|
rs1482791997
|
0.00001
|
NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys)
|
rs1466882490
|
0.00001
|
NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser)
|
rs1250258763
|
0.00001
|
NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg)
|
rs1167372383
|
0.00001
|
NM_006015.6(ARID1A):c.3539+5G>A
|
rs750030197
|
0.00001
|
NM_006015.6(ARID1A):c.3702C>T (p.Gly1234=)
|
rs376672377
|
0.00001
|
NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu)
|
rs781072025
|
0.00001
|
NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu)
|
rs1326693674
|
0.00001
|
NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val)
|
rs1463725053
|
0.00001
|
NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys)
|
rs781689378
|
0.00001
|
NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser)
|
rs777557012
|
0.00001
|
NM_006015.6(ARID1A):c.6466A>G (p.Ser2156Gly)
|
rs1191962249
|
0.00001
|
NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr)
|
rs746165075
|
0.00001
|
NM_006268.5(DPF2):c.844A>T (p.Ile282Phe)
|
rs1854515495
|
0.00001
|
NM_006268.5(DPF2):c.900C>T (p.Arg300=)
|
rs775695232
|
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 19q13.32-13.33(chr19:47028919-48185409)
|
|
|
GRCh37/hg19 19q13.33(chr19:48197371-48246391)
|
|
|
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
|
|
|
NC_000012.12:g.(56167013_56168930)del
|
|
|
NC_000022.11:g.23774226_23859697dup
|
|
|
NM_001128849.2(SMARCA4):c.*464G>T
|
rs886054156
|
|
NM_001330288.2(SMARCC2):c.1091del (p.Lys364fs)
|
|
|
NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)
|
|
|
NM_001330288.2(SMARCC2):c.111+2T>C
|
rs892217209
|
|
NM_001330288.2(SMARCC2):c.1142-1G>C
|
rs1875550324
|
|
NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)
|
|
|
NM_001330288.2(SMARCC2):c.1193A>C (p.Asn398Thr)
|
|
|
NM_001330288.2(SMARCC2):c.1303T>C (p.Tyr435His)
|
|
|
NM_001330288.2(SMARCC2):c.1310+1G>T
|
rs1875450525
|
|
NM_001330288.2(SMARCC2):c.1311-3C>G
|
rs1206884190
|
|
NM_001330288.2(SMARCC2):c.137A>G (p.Asn46Ser)
|
rs1877438087
|
|
NM_001330288.2(SMARCC2):c.1382+1G>A
|
|
|
NM_001330288.2(SMARCC2):c.1396C>T (p.Arg466Ter)
|
|
|
NM_001330288.2(SMARCC2):c.1496+2T>G
|
|
|
NM_001330288.2(SMARCC2):c.1496G>A (p.Arg499Lys)
|
|
|
NM_001330288.2(SMARCC2):c.1497-2A>G
|
|
|
NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala)
|
rs1877434002
|
|
NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter)
|
rs1877432240
|
|
NM_001330288.2(SMARCC2):c.1807A>G (p.Met603Val)
|
|
|
NM_001330288.2(SMARCC2):c.1839C>A (p.Tyr613Ter)
|
|
|
NM_001330288.2(SMARCC2):c.1919T>C (p.Leu640Pro)
|
rs2135687866
|
|
NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro)
|
rs1565903367
|
|
NM_001330288.2(SMARCC2):c.1926+1G>A
|
rs1555221275
|
|
NM_001330288.2(SMARCC2):c.1926+1G>T
|
rs1555221275
|
|
NM_001330288.2(SMARCC2):c.1926+2T>C
|
rs1565903353
|
|
NM_001330288.2(SMARCC2):c.2276A>G (p.Lys759Arg)
|
|
|
NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)
|
|
|
NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly)
|
rs1873193008
|
|
NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)
|
rs1565896447
|
|
NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro)
|
rs762674487
|
|
NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn)
|
rs1872594253
|
|
NM_001330288.2(SMARCC2):c.3221del (p.Pro1074fs)
|
|
|
NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs)
|
rs752001894
|
|
NM_001330288.2(SMARCC2):c.3224G>T (p.Gly1075Val)
|
rs1872567850
|
|
NM_001330288.2(SMARCC2):c.3232G>A (p.Gly1078Ser)
|
|
|
NM_001330288.2(SMARCC2):c.3366_3374dup (p.Pro1123_Pro1125dup)
|
rs1872429981
|
|
NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)
|
|
|
NM_001330288.2(SMARCC2):c.385A>G (p.Lys129Glu)
|
rs1592324196
|
|
NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser)
|
rs1876933164
|
|
NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter)
|
rs1876739249
|
|
NM_001330288.2(SMARCC2):c.723G>A (p.Trp241Ter)
|
rs1565917836
|
|
NM_001330288.2(SMARCC2):c.770A>G (p.Tyr257Cys)
|
|
|
NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter)
|
rs2135734683
|
|
NM_001330288.2(SMARCC2):c.880_881del (p.Gly294fs)
|
rs1488489883
|
|
NM_001330288.2(SMARCC2):c.888_889del (p.Tyr296_Lys297delinsTer)
|
rs2135733729
|
|
NM_001374828.1(ARID1B):c.*3T>C
|
|
|
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.1114G>A (p.Gly372Arg)
|
rs926297805
|
|
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.Gly402dup)
|
rs587779747
|
|
NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg)
|
|
|
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.1292C>T (p.Ala431Val)
|
|
|
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser)
|
|
|
NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys)
|
|
|
NM_001374828.1(ARID1B):c.1355G>A (p.Ser452Asn)
|
|
|
NM_001374828.1(ARID1B):c.1400del (p.Gly467fs)
|
|
|
NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val)
|
|
|
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs)
|
rs1554248082
|
|
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr)
|
rs1562378653
|
|
NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro)
|
|
|
NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla)
|
|
|
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)
|
rs1779004027
|
|
NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del)
|
|
|
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)
|
|
|
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.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.1781G>T (p.Gly594Val)
|
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
|
|
|
NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser)
|
|
|
NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile)
|
|
|
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
|
|
|
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)
|
|
|
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)
|
|
|
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.2069C>T (p.Pro690Leu)
|
rs779239519
|
|
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.2221_2222dup (p.Gln741fs)
|
|
|
NM_001374828.1(ARID1B):c.2239dup (p.Ser747fs)
|
rs2128275227
|
|
NM_001374828.1(ARID1B):c.2248-2A>G
|
rs2128462015
|
|
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter)
|
rs1554294593
|
|
NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
|
|
|
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
|
|
|
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.2844del (p.Asn949fs)
|
rs2128634170
|
|
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)
|
|
|
NM_001374828.1(ARID1B):c.2875C>T (p.Gln959Ter)
|
rs138254872
|
|
NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)
|
|
|
NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly)
|
|
|
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)
|
rs2128634579
|
|
NM_001374828.1(ARID1B):c.3007C>A (p.Pro1003Thr)
|
|
|
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs)
|
|
|
NM_001374828.1(ARID1B):c.3172A>G (p.Ser1058Gly)
|
|
|
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
|
|
|
NM_001374828.1(ARID1B):c.3247_3248del (p.Leu1083fs)
|
rs2128303803
|
|
NM_001374828.1(ARID1B):c.3261del (p.Met1087fs)
|
|
|
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter)
|
rs902091666
|
|
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)
|
rs1583451146
|
|
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs)
|
rs1131692263
|
|
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs)
|
rs1791918216
|
|
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=)
|
rs752231248
|
|
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.3505-2A>G
|
rs2128316571
|
|
NM_001374828.1(ARID1B):c.3527del (p.Thr1176fs)
|
rs2128316690
|
|
NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs)
|
|
|
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.3589G>A (p.Asp1197Asn)
|
|
|
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.3714+1G>A
|
rs1554231278
|
|
NM_001374828.1(ARID1B):c.3714+2T>G
|
rs1404726383
|
|
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
|
|
|
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)
|
|
|
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.3917del (p.Pro1306fs)
|
rs1562331655
|
|
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
|
|
|
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.4001dup (p.Pro1335fs)
|
rs1554232959
|
|
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.4215del (p.Phe1405fs)
|
rs2128339990
|
|
NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)
|
|
|
NM_001374828.1(ARID1B):c.4232-1G>A
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.4400dup (p.Gln1468fs)
|
|
|
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter)
|
rs748363079
|
|
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.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4480-8A>G
|
rs1252519291
|
|
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)
|
|
|
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter)
|
rs377021700
|
|
NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg)
|
|
|
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)
|
rs1554235505
|
|
NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)
|
|
|
NM_001374828.1(ARID1B):c.4530dup (p.Glu1511fs)
|
rs2128372410
|
|
NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val)
|
|
|
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter)
|
rs1554235541
|
|
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs)
|
rs879253746
|
|
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
|
|
|
NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser)
|
|
|
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs)
|
rs1794053879
|
|
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)
|
rs797045278
|
|
NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val)
|
|
|
NM_001374828.1(ARID1B):c.4738A>G (p.Ser1580Gly)
|
|
|
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
|
|
|
NM_001374828.1(ARID1B):c.4785T>G (p.Pro1595=)
|
|
|
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter)
|
rs1562345819
|
|
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
|
|
|
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.4894G>A (p.Glu1632Lys)
|
rs1340183572
|
|
NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter)
|
rs1554235834
|
|
NM_001374828.1(ARID1B):c.4911dup (p.His1638fs)
|
|
|
NM_001374828.1(ARID1B):c.4921C>T (p.Gln1641Ter)
|
rs1554235841
|
|
NM_001374828.1(ARID1B):c.4968_4969del (p.Arg1657fs)
|
|
|
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)
|
|
|
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)
|
|
|
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.5281dup (p.Arg1761fs)
|
rs1794276185
|
|
NM_001374828.1(ARID1B):c.5285_5294delinsAGA (p.Val1762fs)
|
rs2128385309
|
|
NM_001374828.1(ARID1B):c.5323A>G (p.Thr1775Ala)
|
|
|
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
|
|
|
NM_001374828.1(ARID1B):c.5395-2A>C
|
rs1562350940
|
|
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs)
|
rs797045279
|
|
NM_001374828.1(ARID1B):c.5496del (p.Ala1833fs)
|
|
|
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)
|
|
|
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)
|
|
|
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)
|
|
|
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.5807A>G (p.Asn1936Ser)
|
|
|
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
|
|
|
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.5867_5872delinsC (p.His1956fs)
|
|
|
NM_001374828.1(ARID1B):c.586T>C (p.Phe196Leu)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)
|
|
|
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro)
|
|
|
NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)
|
|
|
NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser)
|
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs)
|
rs876657381
|
|
NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln)
|
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
|
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
|
|
|
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)
|
rs1028186690
|
|
NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)
|
|
|
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
|
|
|
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter)
|
rs2128395778
|
|
NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu)
|
|
|
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)
|
rs1583516082
|
|
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
|
|
|
NM_001374828.1(ARID1B):c.6319G>A (p.Glu2107Lys)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.6377dup (p.Val2128fs)
|
rs2128396622
|
|
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
|
|
|
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)
|
rs1554237850
|
|
NM_001374828.1(ARID1B):c.6412del (p.Asp2138fs)
|
rs2128396828
|
|
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter)
|
rs869312697
|
|
NM_001374828.1(ARID1B):c.6497dup (p.Ser2166fs)
|
rs2128397334
|
|
NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr)
|
|
|
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)
|
|
|
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.662A>G (p.Asn221Ser)
|
|
|
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)
|
rs1554238035
|
|
NM_001374828.1(ARID1B):c.6723C>T (p.Tyr2241=)
|
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001374828.1(ARID1B):c.6762del (p.Met2255fs)
|
|
|
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.6935del (p.Pro2312fs)
|
rs2128399165
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.7046C>T (p.Ser2349Leu)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu)
|
|
|
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)
|
|
|
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=)
|
rs745740327
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
NM_001394372.1(BICRA):c.1214_1215insT (p.Gln407fs)
|
|
|
NM_001394372.1(BICRA):c.1224C>A (p.Asn408Lys)
|
|
|
NM_001394372.1(BICRA):c.145C>T (p.Pro49Ser)
|
|
|
NM_001394372.1(BICRA):c.1509_1510insA (p.His504fs)
|
|
|
NM_001394372.1(BICRA):c.1614C>A (p.Ser538Arg)
|
|
|
NM_001394372.1(BICRA):c.1921C>T (p.Gln641Ter)
|
|
|
NM_001394372.1(BICRA):c.192G>C (p.Glu64Asp)
|
rs2123584339
|
|
NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter)
|
|
|
NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter)
|
rs1229548274
|
|
NM_001394372.1(BICRA):c.2370C>G (p.His790Gln)
|
rs2123605781
|
|
NM_001394372.1(BICRA):c.2428G>A (p.Val810Met)
|
|
|
NM_001394372.1(BICRA):c.2434C>T (p.Arg812Cys)
|
|
|
NM_001394372.1(BICRA):c.2479_2480delinsA (p.Ala827fs)
|
rs2123606076
|
|
NM_001394372.1(BICRA):c.2734_2737del (p.Pro912fs)
|
|
|
NM_001394372.1(BICRA):c.2774C>T (p.Thr925Ile)
|
|
|
NM_001394372.1(BICRA):c.3081C>T (p.Leu1027=)
|
|
|
NM_001394372.1(BICRA):c.3247dup (p.Cys1083fs)
|
rs1973345860
|
|
NM_001394372.1(BICRA):c.3248+1G>A
|
rs1490477251
|
|
NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)
|
|
|
NM_001394372.1(BICRA):c.334A>G (p.Asn112Asp)
|
|
|
NM_001394372.1(BICRA):c.3529C>T (p.Arg1177Ter)
|
rs1375723922
|
|
NM_001394372.1(BICRA):c.3676C>T (p.Pro1226Ser)
|
|
|
NM_001394372.1(BICRA):c.386_401del (p.Phe129fs)
|
rs2123584685
|
|
NM_001394372.1(BICRA):c.3941_3948dup (p.Gly1317fs)
|
|
|
NM_001394372.1(BICRA):c.4253C>T (p.Pro1418Leu)
|
|
|
NM_001394372.1(BICRA):c.4343dup (p.Pro1449fs)
|
rs1424525709
|
|
NM_001394372.1(BICRA):c.4649_4661dup (p.Ala1555fs)
|
|
|
NM_001394372.1(BICRA):c.639_669del (p.Leu214fs)
|
|
|
NM_001394372.1(BICRA):c.936del (p.Ala313fs)
|
rs1973010599
|
|
NM_001394372.1(BICRA):c.937G>C (p.Ala313Pro)
|
|
|
NM_001394372.1(BICRA):c.974_987dup (p.Gly330fs)
|
|
|
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.*4_*5dup
|
rs2076919180
|
|
NM_003072.5(SMARCA4):c.-32+11C>T
|
rs886054150
|
|
NM_003072.5(SMARCA4):c.1003C>A (p.Gln335Lys)
|
rs374054124
|
|
NM_003072.5(SMARCA4):c.1030C>A (p.Pro344Thr)
|
rs771509538
|
|
NM_003072.5(SMARCA4):c.1045C>G (p.Gln349Glu)
|
rs1060502092
|
|
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.1111G>A (p.Glu371Lys)
|
rs1599972601
|
|
NM_003072.5(SMARCA4):c.1118+7del
|
rs774132615
|
|
NM_003072.5(SMARCA4):c.1119-5C>T
|
rs1555756257
|
|
NM_003072.5(SMARCA4):c.1130G>A (p.Arg377His)
|
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.1142G>A (p.Arg381Gln)
|
rs749059769
|
|
NM_003072.5(SMARCA4):c.1163T>C (p.Leu388Pro)
|
rs1555756337
|
|
NM_003072.5(SMARCA4):c.1205T>C (p.Ile402Thr)
|
rs1599996370
|
|
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.121A>G (p.Ser41Gly)
|
rs1555750818
|
|
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val)
|
rs1060502081
|
|
NM_003072.5(SMARCA4):c.1264G>A (p.Val422Met)
|
rs1555757536
|
|
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.1273C>T (p.Arg425Trp)
|
rs2145878488
|
|
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu)
|
rs375812959
|
|
NM_003072.5(SMARCA4):c.1345G>A (p.Glu449Lys)
|
|
|
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.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
|
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg)
|
rs2145937134
|
|
NM_003072.5(SMARCA4):c.144G>T (p.Gly48=)
|
rs1398193826
|
|
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)
|
rs2145938426
|
|
NM_003072.5(SMARCA4):c.1481C>T (p.Thr494Ile)
|
rs1060502098
|
|
NM_003072.5(SMARCA4):c.1513G>A (p.Ala505Thr)
|
rs1555762079
|
|
NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val)
|
rs1600068270
|
|
NM_003072.5(SMARCA4):c.154G>A (p.Ala52Thr)
|
rs1060502103
|
|
NM_003072.5(SMARCA4):c.1594-3T>C
|
rs1600081783
|
|
NM_003072.5(SMARCA4):c.162C>A (p.His54Gln)
|
rs1330092211
|
|
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del)
|
rs876657378
|
|
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys)
|
rs2087030906
|
|
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu)
|
rs2145970607
|
|
NM_003072.5(SMARCA4):c.1658T>G (p.Leu553Arg)
|
rs2145971047
|
|
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys)
|
rs1600082188
|
|
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.1702G>C (p.Val568Leu)
|
rs1431755388
|
|
NM_003072.5(SMARCA4):c.1705C>T (p.Arg569Trp)
|
rs141090393
|
|
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr)
|
rs1369374541
|
|
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)
|
rs1429065030
|
|
NM_003072.5(SMARCA4):c.1761+5G>A
|
rs1555763822
|
|
NM_003072.5(SMARCA4):c.1761+6C>T
|
rs886054152
|
|
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del)
|
rs1484395538
|
|
NM_003072.5(SMARCA4):c.1802C>T (p.Pro601Leu)
|
rs777544121
|
|
NM_003072.5(SMARCA4):c.1813-6_1813-4del
|
rs1864896196
|
|
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.182C>T (p.Pro61Leu)
|
rs2085820972
|
|
NM_003072.5(SMARCA4):c.1836G>A (p.Met612Ile)
|
rs1600132619
|
|
NM_003072.5(SMARCA4):c.1860C>G (p.Ile620Met)
|
rs141751028
|
|
NM_003072.5(SMARCA4):c.1882C>A (p.Leu628Ile)
|
rs1555768351
|
|
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile)
|
rs1555768365
|
|
NM_003072.5(SMARCA4):c.1897_1898delinsAT (p.Ala633Ile)
|
rs1600133041
|
|
NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro)
|
rs1600133106
|
|
NM_003072.5(SMARCA4):c.1944-12C>T
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.1947_2001+3del
|
|
|
NM_003072.5(SMARCA4):c.1964C>T (p.Ser655Phe)
|
rs1555768701
|
|
NM_003072.5(SMARCA4):c.1985C>T (p.Ser662Leu)
|
rs1060502104
|
|
NM_003072.5(SMARCA4):c.1994A>C (p.Glu665Ala)
|
rs754483795
|
|
NM_003072.5(SMARCA4):c.2001+4A>G
|
rs1343722342
|
|
NM_003072.5(SMARCA4):c.2002G>A (p.Glu668Lys)
|
rs1060502105
|
|
NM_003072.5(SMARCA4):c.2014G>C (p.Glu672Gln)
|
rs2088394203
|
|
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr)
|
rs2088396631
|
|
NM_003072.5(SMARCA4):c.2036C>G (p.Pro679Arg)
|
rs1555771583
|
|
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.2051T>C (p.Val684Ala)
|
rs979444190
|
|
NM_003072.5(SMARCA4):c.2057A>G (p.Glu686Gly)
|
rs924158571
|
|
NM_003072.5(SMARCA4):c.2059A>G (p.Lys687Glu)
|
rs751565055
|
|
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.2084G>A (p.Ser695Asn)
|
rs755519197
|
|
NM_003072.5(SMARCA4):c.2088T>A (p.Asp696Glu)
|
rs1600168312
|
|
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)
|
rs1600168349
|
|
NM_003072.5(SMARCA4):c.20C>A (p.Pro7His)
|
rs1568416569
|
|
NM_003072.5(SMARCA4):c.2108C>T (p.Ala703Val)
|
rs550731833
|
|
NM_003072.5(SMARCA4):c.2119_2121del (p.Ile707del)
|
rs1555771687
|
|
NM_003072.5(SMARCA4):c.2124-3C>T
|
rs1555773222
|
|
NM_003072.5(SMARCA4):c.2132A>G (p.Lys711Arg)
|
rs1555773235
|
|
NM_003072.5(SMARCA4):c.2166G>A (p.Gln722=)
|
rs1555773282
|
|
NM_003072.5(SMARCA4):c.223-4G>A
|
rs763383326
|
|
NM_003072.5(SMARCA4):c.223-4G>T
|
rs763383326
|
|
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.226A>G (p.Met76Val)
|
rs1225673675
|
|
NM_003072.5(SMARCA4):c.2275-1G>C
|
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
NM_003072.5(SMARCA4):c.227T>C (p.Met76Thr)
|
rs1599940473
|
|
NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met)
|
rs1193519882
|
|
NM_003072.5(SMARCA4):c.2402G>A (p.Arg801His)
|
rs1568471266
|
|
NM_003072.5(SMARCA4):c.2450A>T (p.Asn817Ile)
|
rs2146359567
|
|
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter)
|
rs2146359668
|
|
NM_003072.5(SMARCA4):c.2455G>A (p.Ala819Thr)
|
rs767743765
|
|
NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys)
|
rs2146360458
|
|
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser)
|
rs1057524313
|
|
NM_003072.5(SMARCA4):c.2506-2A>G
|
|
|
NM_003072.5(SMARCA4):c.2506-4G>A
|
rs375670091
|
|
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln)
|
rs2146373452
|
|
NM_003072.5(SMARCA4):c.2545C>T (p.Arg849Trp)
|
rs1600257935
|
|
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)
|
rs281875226
|
|
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=)
|
rs776649185
|
|
NM_003072.5(SMARCA4):c.2616+14G>T
|
rs886054154
|
|
NM_003072.5(SMARCA4):c.2617-10G>T
|
rs2146414345
|
|
NM_003072.5(SMARCA4):c.2636T>C (p.Ile879Thr)
|
rs1600277882
|
|
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser)
|
rs1568486679
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.265C>T (p.Arg89Cys)
|
rs1568419849
|
|
NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)
|
|
|
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter)
|
rs2146417384
|
|
NM_003072.5(SMARCA4):c.2699A>G (p.His900Arg)
|
rs1600278214
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys)
|
rs1555778721
|
|
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys)
|
rs898406635
|
|
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu)
|
rs778175819
|
|
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser)
|
rs2146419846
|
|
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe)
|
rs281875228
|
|
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=)
|
rs574844383
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
NM_003072.5(SMARCA4):c.2783T>C (p.Leu928Pro)
|
rs1555778801
|
|
NM_003072.5(SMARCA4):c.2850C>A (p.Thr950=)
|
rs141259126
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
NM_003072.5(SMARCA4):c.2859+8T>G
|
rs1555778883
|
|
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)
|
rs1180804356
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003072.5(SMARCA4):c.2956G>A (p.Ala986Thr)
|
rs1555779631
|
|
NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp)
|
rs778890805
|
|
NM_003072.5(SMARCA4):c.296G>A (p.Arg99Gln)
|
rs745406632
|
|
NM_003072.5(SMARCA4):c.2983G>A (p.Val995Ile)
|
rs1600300689
|
|
NM_003072.5(SMARCA4):c.2995G>A (p.Asp999Asn)
|
rs1555779989
|
|
NM_003072.5(SMARCA4):c.3021C>T (p.Leu1007=)
|
rs1555780015
|
|
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr)
|
rs281875229
|
|
NM_003072.5(SMARCA4):c.303G>T (p.Gly101=)
|
rs1170894634
|
|
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys)
|
rs1555780047
|
|
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
|
|
|
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile)
|
rs1568493644
|
|
NM_003072.5(SMARCA4):c.311C>T (p.Ala104Val)
|
rs1555752113
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His)
|
rs2146497910
|
|
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg)
|
rs1060502074
|
|
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)
|
rs773526113
|
|
NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala)
|
rs1060502067
|
|
NM_003072.5(SMARCA4):c.3256G>A (p.Asp1086Asn)
|
rs1600335439
|
|
NM_003072.5(SMARCA4):c.3272A>G (p.Lys1091Arg)
|
rs1555781772
|
|
NM_003072.5(SMARCA4):c.3275T>G (p.Leu1092Arg)
|
rs2146543069
|
|
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln)
|
rs1568498301
|
|
NM_003072.5(SMARCA4):c.3280G>A (p.Ala1094Thr)
|
rs1600335831
|
|
NM_003072.5(SMARCA4):c.3287A>G (p.Asn1096Ser)
|
rs1354262139
|
|
NM_003072.5(SMARCA4):c.3312A>G (p.Gln1104=)
|
rs1600336124
|
|
NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly)
|
rs1599941986
|
|
NM_003072.5(SMARCA4):c.3349G>T (p.Ala1117Ser)
|
rs548906832
|
|
NM_003072.5(SMARCA4):c.337A>G (p.Met113Val)
|
rs774919609
|
|
NM_003072.5(SMARCA4):c.3383-36C>T
|
rs2146595699
|
|
NM_003072.5(SMARCA4):c.3383-5G>T
|
rs762528243
|
|
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln)
|
rs1555783190
|
|
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly)
|
rs281875230
|
|
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala)
|
rs2146600868
|
|
NM_003072.5(SMARCA4):c.350C>G (p.Ser117Cys)
|
rs759594383
|
|
NM_003072.5(SMARCA4):c.3547-4C>T
|
rs908652572
|
|
NM_003072.5(SMARCA4):c.355+4C>T
|
rs1276835884
|
|
NM_003072.5(SMARCA4):c.355+5A>T
|
rs999267729
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003072.5(SMARCA4):c.356-4G>T
|
rs765828645
|
|
NM_003072.5(SMARCA4):c.356G>A (p.Gly119Asp)
|
rs1599948657
|
|
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)
|
rs770680174
|
|
NM_003072.5(SMARCA4):c.3610C>T (p.Leu1204Phe)
|
rs1555784504
|
|
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu)
|
rs1555752859
|
|
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
|
|
|
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>T (p.Arg1244=)
|
rs797045983
|
|
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly)
|
rs797045984
|
|
NM_003072.5(SMARCA4):c.3774+3G>C
|
rs1600390925
|
|
NM_003072.5(SMARCA4):c.3774+4A>G
|
rs1600390948
|
|
NM_003072.5(SMARCA4):c.3775-4A>G
|
rs926233307
|
|
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.3830C>A (p.Pro1277Gln)
|
rs746219091
|
|
NM_003072.5(SMARCA4):c.3836C>T (p.Ala1279Val)
|
rs1232715199
|
|
NM_003072.5(SMARCA4):c.3855G>A (p.Leu1285=)
|
rs1600394125
|
|
NM_003072.5(SMARCA4):c.3868C>G (p.Leu1290Val)
|
rs1555784851
|
|
NM_003072.5(SMARCA4):c.3895G>A (p.Asp1299Asn)
|
rs747286271
|
|
NM_003072.5(SMARCA4):c.3916A>G (p.Ile1306Val)
|
rs1060502080
|
|
NM_003072.5(SMARCA4):c.3947T>A (p.Phe1316Tyr)
|
rs1455103075
|
|
NM_003072.5(SMARCA4):c.3951+3A>G
|
rs1600398046
|
|
NM_003072.5(SMARCA4):c.3954C>T (p.Arg1318=)
|
rs1555785323
|
|
NM_003072.5(SMARCA4):c.3968G>A (p.Arg1323His)
|
rs61750054
|
|
NM_003072.5(SMARCA4):c.3976G>A (p.Glu1326Lys)
|
rs1482864360
|
|
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.3992C>T (p.Pro1331Leu)
|
rs1568514190
|
|
NM_003072.5(SMARCA4):c.4055C>T (p.Ala1352Val)
|
rs1568514549
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
NM_003072.5(SMARCA4):c.4102G>A (p.Gly1368Ser)
|
rs1060502101
|
|
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys)
|
rs199962502
|
|
NM_003072.5(SMARCA4):c.4121G>A (p.Arg1374His)
|
rs1060502070
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
NM_003072.5(SMARCA4):c.4171-1789C>T
|
rs2075455200
|
|
NM_003072.5(SMARCA4):c.4188G>T (p.Thr1396=)
|
rs199847974
|
|
NM_003072.5(SMARCA4):c.418T>C (p.Ser140Pro)
|
rs1022140074
|
|
NM_003072.5(SMARCA4):c.4200C>G (p.Ile1400Met)
|
rs577059244
|
|
NM_003072.5(SMARCA4):c.4201G>A (p.Glu1401Lys)
|
rs756924224
|
|
NM_003072.5(SMARCA4):c.4210G>T (p.Val1404Phe)
|
rs1555788108
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)
|
rs755455174
|
|
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.4267A>G (p.Thr1423Ala)
|
rs1258849439
|
|
NM_003072.5(SMARCA4):c.4274C>T (p.Thr1425Ile)
|
rs1340211412
|
|
NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser)
|
rs891010465
|
|
NM_003072.5(SMARCA4):c.4285C>T (p.Arg1429Cys)
|
rs1060502069
|
|
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)
|
rs796506759
|
|
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys)
|
rs864622722
|
|
NM_003072.5(SMARCA4):c.4342G>A (p.Ala1448Thr)
|
rs761338885
|
|
NM_003072.5(SMARCA4):c.4345G>A (p.Glu1449Lys)
|
rs1568528491
|
|
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile)
|
rs1555788341
|
|
NM_003072.5(SMARCA4):c.4391A>G (p.Lys1464Arg)
|
rs1555788352
|
|
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.4402G>T (p.Ala1468Ser)
|
rs1600469287
|
|
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu)
|
rs878854227
|
|
NM_003072.5(SMARCA4):c.4424+5G>A
|
rs756617788
|
|
NM_003072.5(SMARCA4):c.4432G>C (p.Gly1478Arg)
|
rs2093999657
|
|
NM_003072.5(SMARCA4):c.4449G>C (p.Glu1483Asp)
|
rs776843815
|
|
NM_003072.5(SMARCA4):c.4450G>A (p.Val1484Ile)
|
rs1600629958
|
|
NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=)
|
rs550796495
|
|
NM_003072.5(SMARCA4):c.4469C>T (p.Ser1490Leu)
|
rs1329240441
|
|
NM_003072.5(SMARCA4):c.4478A>C (p.Glu1493Ala)
|
rs1568560821
|
|
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His)
|
rs1555795063
|
|
NM_003072.5(SMARCA4):c.450A>T (p.Gly150=)
|
rs369026160
|
|
NM_003072.5(SMARCA4):c.451G>A (p.Gly151Ser)
|
rs962808170
|
|
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His)
|
rs1600635111
|
|
NM_003072.5(SMARCA4):c.4558C>T (p.Arg1520Cys)
|
rs1057523119
|
|
NM_003072.5(SMARCA4):c.4570G>A (p.Asp1524Asn)
|
rs2076693372
|
|
NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile)
|
rs1555795386
|
|
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=)
|
rs372931195
|
|
NM_003072.5(SMARCA4):c.4601A>G (p.Gln1534Arg)
|
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
NM_003072.5(SMARCA4):c.4654G>A (p.Val1552Ile)
|
rs1555795880
|
|
NM_003072.5(SMARCA4):c.4678G>A (p.Val1560Met)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.467G>A (p.Gly156Asp)
|
rs1555753146
|
|
NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His)
|
rs1600643911
|
|
NM_003072.5(SMARCA4):c.4696_4698del (p.Lys1566del)
|
rs1375203306
|
|
NM_003072.5(SMARCA4):c.4700A>G (p.Glu1567Gly)
|
rs1310082332
|
|
NM_003072.5(SMARCA4):c.4719G>C (p.Glu1573Asp)
|
rs1306229985
|
|
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln)
|
rs1555795999
|
|
NM_003072.5(SMARCA4):c.4742_4747dup (p.Gly1581_Glu1582dup)
|
rs2055163263
|
|
NM_003072.5(SMARCA4):c.4759G>A (p.Glu1587Lys)
|
rs1568564931
|
|
NM_003072.5(SMARCA4):c.4769C>T (p.Ser1590Phe)
|
rs2076772762
|
|
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=)
|
rs568650875
|
|
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg)
|
rs1555796197
|
|
NM_003072.5(SMARCA4):c.4798G>C (p.Gly1600Arg)
|
rs1600648042
|
|
NM_003072.5(SMARCA4):c.4813G>C (p.Ala1605Pro)
|
rs141224876
|
|
NM_003072.5(SMARCA4):c.4829A>C (p.Lys1610Thr)
|
rs1555796263
|
|
NM_003072.5(SMARCA4):c.4840C>T (p.Arg1614Trp)
|
rs1568565971
|
|
NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg)
|
rs1600649183
|
|
NM_003072.5(SMARCA4):c.4870C>T (p.Pro1624Ser)
|
rs1555796335
|
|
NM_003072.5(SMARCA4):c.4872G>T (p.Pro1624=)
|
rs182644267
|
|
NM_003072.5(SMARCA4):c.4890C>A (p.Asp1630Glu)
|
rs918621161
|
|
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys)
|
rs1600649575
|
|
NM_003072.5(SMARCA4):c.489G>T (p.Gly163=)
|
rs1201612670
|
|
NM_003072.5(SMARCA4):c.4902A>C (p.Glu1634Asp)
|
rs2147127066
|
|
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg)
|
rs1568566518
|
|
NM_003072.5(SMARCA4):c.4905A>C (p.Gln1635His)
|
rs908806258
|
|
NM_003072.5(SMARCA4):c.4909_4910delinsTT (p.Glu1637Leu)
|
rs1600649855
|
|
NM_003072.5(SMARCA4):c.4910_4911+1del
|
rs745740277
|
|
NM_003072.5(SMARCA4):c.4944A>T (p.Ter1648Cys)
|
rs772894995
|
|
NM_003072.5(SMARCA4):c.529C>G (p.Leu177Val)
|
rs1555753296
|
|
NM_003072.5(SMARCA4):c.534C>G (p.His178Gln)
|
rs759429379
|
|
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)
|
rs1060502087
|
|
NM_003072.5(SMARCA4):c.557C>G (p.Ala186Gly)
|
|
|
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His)
|
rs1568422604
|
|
NM_003072.5(SMARCA4):c.634G>A (p.Gly212Arg)
|
rs886937766
|
|
NM_003072.5(SMARCA4):c.65C>A (p.Pro22His)
|
rs1227659334
|
|
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)
|
rs769096295
|
|
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.696T>C (p.Pro232=)
|
rs573767517
|
|
NM_003072.5(SMARCA4):c.698G>A (p.Gly233Asp)
|
rs878854238
|
|
NM_003072.5(SMARCA4):c.701C>T (p.Pro234Leu)
|
rs572494136
|
|
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.715G>A (p.Gly239Ser)
|
rs761515593
|
|
NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg)
|
rs772230026
|
|
NM_003072.5(SMARCA4):c.724C>T (p.Pro242Ser)
|
rs1555753773
|
|
NM_003072.5(SMARCA4):c.729C>T (p.Gly243=)
|
rs1031885122
|
|
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.761-2A>T
|
rs1479379455
|
|
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.790G>A (p.Gly264Arg)
|
rs746036083
|
|
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.7A>C (p.Thr3Pro)
|
rs1599927930
|
|
NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp)
|
rs746986969
|
|
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del)
|
rs1555754225
|
|
NM_003072.5(SMARCA4):c.859+3G>A
|
rs1599958336
|
|
NM_003072.5(SMARCA4):c.860-3C>T
|
rs1158136597
|
|
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser)
|
rs199573401
|
|
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.88C>T (p.Pro30Ser)
|
rs1599928968
|
|
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.923C>T (p.Thr308Met)
|
rs770322996
|
|
NM_003072.5(SMARCA4):c.928C>T (p.Arg310Cys)
|
rs1555754899
|
|
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=)
|
rs567283924
|
|
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)
|
rs1599968129
|
|
NM_003072.5(SMARCA4):c.955C>T (p.Pro319Ser)
|
rs1555755005
|
|
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.989C>T (p.Thr330Ile)
|
rs1555755082
|
|
NM_003072.5(SMARCA4):c.995C>G (p.Ser332Cys)
|
rs1013942482
|
|
NM_003073.5(SMARCB1):c.*12_*14dup
|
rs779825754
|
|
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs)
|
rs1555881563
|
|
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg)
|
rs1555881567
|
|
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del)
|
rs2146042583
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly)
|
rs886039520
|
|
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys)
|
rs886039520
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003073.5(SMARCB1):c.1118+4C>G
|
rs374197835
|
|
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)
|
rs1568963596
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala)
|
rs1929117173
|
|
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)
|
rs1555877287
|
|
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser)
|
rs2146009925
|
|
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)
|
rs752910574
|
|
NM_003073.5(SMARCB1):c.796-1G>A
|
rs2146026614
|
|
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu)
|
rs762676176
|
|
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu)
|
rs2030318562
|
|
NM_003073.5(SMARCB1):c.84C>G (p.Ile28Met)
|
|
|
NM_003073.5(SMARCB1):c.868C>T (p.Pro290Ser)
|
|
|
NM_003073.5(SMARCB1):c.986+2T>C
|
rs2030331202
|
|
NM_003076.5(SMARCD1):c.107C>T (p.Pro36Leu)
|
|
|
NM_003076.5(SMARCD1):c.1336A>G (p.Arg446Gly)
|
rs1592294569
|
|
NM_003076.5(SMARCD1):c.142C>G (p.Leu48Val)
|
|
|
NM_003076.5(SMARCD1):c.1432dup (p.Arg478fs)
|
rs2137907876
|
|
NM_003076.5(SMARCD1):c.1457G>A (p.Trp486Ter)
|
rs1592295890
|
|
NM_003076.5(SMARCD1):c.1460C>G (p.Ala487Gly)
|
|
|
NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu)
|
rs1592295914
|
|
NM_003076.5(SMARCD1):c.1507C>T (p.Arg503Ter)
|
rs372368908
|
|
NM_003076.5(SMARCD1):c.203G>A (p.Arg68Gln)
|
|
|
NM_003076.5(SMARCD1):c.253C>T (p.Pro85Ser)
|
|
|
NM_003076.5(SMARCD1):c.890T>C (p.Leu297Ser)
|
|
|
NM_003076.5(SMARCD1):c.990C>G (p.Asp330Glu)
|
rs1592289150
|
|
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)
|
rs2037085057
|
|
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn)
|
rs751700497
|
|
NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser)
|
rs387906857
|
|
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)
|
rs387906857
|
|
NM_003079.5(SMARCE1):c.237+1G>T
|
rs1426841589
|
|
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)
|
rs1555605795
|
|
NM_003079.5(SMARCE1):c.370-10T>C
|
rs763801620
|
|
NM_003079.5(SMARCE1):c.63C>T (p.Ser21=)
|
rs1597749796
|
|
NM_003079.5(SMARCE1):c.772A>G (p.Lys258Glu)
|
|
|
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)
|
rs2113558441
|
|
NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe)
|
|
|
NM_003107.3(SOX4):c.1308dup (p.Glu437fs)
|
rs1763138195
|
|
NM_003107.3(SOX4):c.130_133delinsCGCT (p.Gly44_Lys45delinsArgTer)
|
|
|
NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)
|
|
|
NM_003107.3(SOX4):c.1382A>T (p.Asp461Val)
|
rs2113558999
|
|
NM_003107.3(SOX4):c.149G>C (p.Ser50Thr)
|
rs749184422
|
|
NM_003107.3(SOX4):c.173A>C (p.His58Pro)
|
rs2113557050
|
|
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)
|
rs1582601669
|
|
NM_003107.3(SOX4):c.193G>A (p.Ala65Thr)
|
rs2113557065
|
|
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)
|
rs1334099693
|
|
NM_003107.3(SOX4):c.281G>A (p.Gly94Asp)
|
|
|
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)
|
rs1582601747
|
|
NM_003107.3(SOX4):c.322_323insA (p.Phe108fs)
|
rs1763101563
|
|
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)
|
rs1464282327
|
|
NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)
|
|
|
NM_003107.3(SOX4):c.373_378del (p.Asp125_Tyr126del)
|
|
|
NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla)
|
rs542004893
|
|
NM_003107.3(SOX4):c.618_626del (p.204AGG[1])
|
|
|
NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del)
|
rs1171444727
|
|
NM_003107.3(SOX4):c.746C>A (p.Pro249His)
|
rs1763113909
|
|
NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)
|
|
|
NM_003107.3(SOX4):c.965delinsAGGG (p.Leu322delinsGlnGly)
|
|
|
NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter)
|
rs1305965061
|
|
NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe)
|
rs991368727
|
|
NM_003108.4(SOX11):c.1147G>T (p.Gly383Cys)
|
rs1665683367
|
|
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
|
|
|
NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr)
|
rs2103277224
|
|
NM_003108.4(SOX11):c.1153G>T (p.Ala385Ser)
|
|
|
NM_003108.4(SOX11):c.1216del (p.Ser406fs)
|
rs1572217107
|
|
NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter)
|
rs1057518672
|
|
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
|
|
|
NM_003108.4(SOX11):c.142C>G (p.His48Asp)
|
rs2103276319
|
|
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
|
|
|
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
|
|
|
NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)
|
|
|
NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)
|
|
|
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
|
|
|
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp)
|
rs2103276324
|
|
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln)
|
rs2103276330
|
|
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
|
|
|
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
|
|
|
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
|
|
|
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
|
|
|
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
|
|
|
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
|
|
|
NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)
|
|
|
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys)
|
rs2103276337
|
|
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu)
|
rs2103276338
|
|
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)
|
rs2103276340
|
|
NM_003108.4(SOX11):c.176G>A (p.Trp59Ter)
|
|
|
NM_003108.4(SOX11):c.178T>C (p.Ser60Pro)
|
rs587777480
|
|
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
|
|
|
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
|
|
|
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
|
|
|
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
|
|
|
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
|
|
|
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)
|
rs1665660543
|
|
NM_003108.4(SOX11):c.239C>T (p.Ser80Phe)
|
rs1553327809
|
|
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
|
|
|
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
|
|
|
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
|
|
|
NM_003108.4(SOX11):c.293del (p.Phe98fs)
|
rs1558373252
|
|
NM_003108.4(SOX11):c.294C>G (p.Phe98Leu)
|
|
|
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)
|
rs1064794628
|
|
NM_003108.4(SOX11):c.305C>T (p.Ala102Val)
|
rs1665661372
|
|
NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3])
|
rs2103276417
|
|
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
|
|
|
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
|
|
|
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
|
|
|
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
|
|
|
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)
|
rs587777479
|
|
NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser)
|
rs1572216329
|
|
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
|
|
|
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro)
|
rs749901648
|
|
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
|
|
|
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu)
|
rs1665662335
|
|
NM_003108.4(SOX11):c.400G>T (p.Ala134Ser)
|
|
|
NM_003108.4(SOX11):c.425C>G (p.Ala142Gly)
|
|
|
NM_003108.4(SOX11):c.527C>A (p.Ala176Glu)
|
|
|
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs)
|
rs2103276750
|
|
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
|
|
|
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
|
rs780122780
|
|
NM_003108.4(SOX11):c.724G>C (p.Glu242Gln)
|
|
|
NM_003108.4(SOX11):c.787C>A (p.Pro263Thr)
|
rs745675837
|
|
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter)
|
rs1553327954
|
|
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
|
|
|
NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)
|
|
|
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter)
|
rs1441654871
|
|
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)
|
|
|
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)
|
rs751352361
|
|
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=)
|
rs1485078108
|
|
NM_006015.6(ARID1A):c.1113del (p.Gln372fs)
|
rs875989848
|
|
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp)
|
rs1018092020
|
|
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup)
|
rs587779737
|
|
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr)
|
rs2124785718
|
|
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter)
|
rs1557591264
|
|
NM_006015.6(ARID1A):c.1350+1G>T
|
|
|
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys)
|
rs2124788689
|
|
NM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser)
|
|
|
NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter)
|
rs781090386
|
|
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter)
|
rs2124789497
|
|
NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter)
|
rs2124740536
|
|
NM_006015.6(ARID1A):c.1708_1766del (p.Pro570fs)
|
rs2124789902
|
|
NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter)
|
rs2124792461
|
|
NM_006015.6(ARID1A):c.1920+3_1920+6del
|
rs2124792810
|
|
NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg)
|
rs2080256530
|
|
NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)
|
|
|
NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter)
|
rs2124056600
|
|
NM_006015.6(ARID1A):c.2186C>T (p.Pro729Leu)
|
rs2080990909
|
|
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys)
|
rs1292150071
|
|
NM_006015.6(ARID1A):c.2252-97A>T
|
rs113319329
|
|
NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg)
|
rs2080999624
|
|
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu)
|
rs1285265984
|
|
NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del)
|
rs2080257947
|
|
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu)
|
rs2081008426
|
|
NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg)
|
rs2124070027
|
|
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr)
|
rs2124741075
|
|
NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)
|
|
|
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter)
|
rs387906845
|
|
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
|
|
|
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp)
|
rs2081039231
|
|
NM_006015.6(ARID1A):c.2878+5G>A
|
|
|
NM_006015.6(ARID1A):c.2879-1G>A
|
rs1570607996
|
|
NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys)
|
rs2080258690
|
|
NM_006015.6(ARID1A):c.2914del (p.Asp972fs)
|
rs2124081540
|
|
NM_006015.6(ARID1A):c.2988+3A>T
|
|
|
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)
|
rs1553152590
|
|
NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys)
|
rs2081052425
|
|
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp)
|
rs2124086560
|
|
NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu)
|
rs2081052495
|
|
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg)
|
rs1557612048
|
|
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
|
|
|
NM_006015.6(ARID1A):c.3146T>G (p.Leu1049Arg)
|
rs2124087389
|
|
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)
|
rs1570609440
|
|
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)
|
rs2124087634
|
|
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter)
|
rs2081053546
|
|
NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs)
|
rs2081053573
|
|
NM_006015.6(ARID1A):c.3198+2dup
|
|
|
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)
|
rs797045262
|
|
NM_006015.6(ARID1A):c.320C>T (p.Ala107Val)
|
|
|
NM_006015.6(ARID1A):c.3217T>C (p.Trp1073Arg)
|
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe)
|
rs2081080248
|
|
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
|
|
|
NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)
|
|
|
NM_006015.6(ARID1A):c.3516G>C (p.Gln1172His)
|
|
|
NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter)
|
rs875989849
|
|
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
|
|
|
NM_006015.6(ARID1A):c.394del (p.Val132fs)
|
rs797045263
|
|
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup)
|
rs374564889
|
|
NM_006015.6(ARID1A):c.3978GCA[4] (p.Gln1331_Gln1334del)
|
|
|
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup)
|
rs374564889
|
|
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)
|
rs387906846
|
|
NM_006015.6(ARID1A):c.4004+5G>A
|
rs2081106391
|
|
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)
|
rs2124114899
|
|
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
|
|
|
NM_006015.6(ARID1A):c.4102-1G>C
|
rs2081113293
|
|
NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr)
|
rs745873673
|
|
NM_006015.6(ARID1A):c.4412A>G (p.Asn1471Ser)
|
|
|
NM_006015.6(ARID1A):c.4715A>G (p.Tyr1572Cys)
|
rs768023738
|
|
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)
|
rs1553153291
|
|
NM_006015.6(ARID1A):c.4868C>T (p.Ser1623Leu)
|
|
|
NM_006015.6(ARID1A):c.4874T>C (p.Ile1625Thr)
|
|
|
NM_006015.6(ARID1A):c.493G>C (p.Ala165Pro)
|
|
|
NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del)
|
rs2124742134
|
|
NM_006015.6(ARID1A):c.4994-20G>C
|
rs113553273
|
|
NM_006015.6(ARID1A):c.5015T>G (p.Val1672Gly)
|
rs749291779
|
|
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)
|
rs375761808
|
|
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)
|
rs797045264
|
|
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter)
|
rs1485978447
|
|
NM_006015.6(ARID1A):c.5254A>G (p.Lys1752Glu)
|
rs1348258521
|
|
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del)
|
rs753766136
|
|
NM_006015.6(ARID1A):c.5299_5301delinsCTT (p.Glu1767Leu)
|
|
|
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter)
|
rs2081169212
|
|
NM_006015.6(ARID1A):c.5693del (p.Pro1898fs)
|
rs1570621899
|
|
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu)
|
rs2124141958
|
|
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)
|
rs41303631
|
|
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu)
|
rs764060744
|
|
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
|
|
|
NM_006015.6(ARID1A):c.5939G>A (p.Arg1980His)
|
|
|
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs)
|
rs2124144295
|
|
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)
|
rs2124742621
|
|
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)
|
rs2081174839
|
|
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
|
|
|
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter)
|
rs879255270
|
|
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del)
|
rs2081176133
|
|
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)
|
rs1557620758
|
|
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)
|
rs1570622663
|
|
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
|
|
|
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)
|
rs869312956
|
|
NM_006015.6(ARID1A):c.626A>T (p.Asn209Ile)
|
|
|
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp)
|
rs1553153771
|
|
NM_006015.6(ARID1A):c.6425G>A (p.Ser2142Asn)
|
|
|
NM_006015.6(ARID1A):c.6437A>G (p.Lys2146Arg)
|
rs2124149077
|
|
NM_006015.6(ARID1A):c.6490C>T (p.Arg2164Trp)
|
rs2124149645
|
|
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)
|
rs1553153783
|
|
NM_006015.6(ARID1A):c.6612C>T (p.Ala2204=)
|
|
|
NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs)
|
rs1557570794
|
|
NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe)
|
rs1240590332
|
|
NM_006015.6(ARID1A):c.849_854del (p.Gly284_Gly285del)
|
rs766163118
|
|
NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs)
|
rs1553146165
|
|
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)
|
rs2124740134
|
|
NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly)
|
rs1555032044
|
|
NM_006268.5(DPF2):c.1045G>C (p.Asp349His)
|
rs373186765
|
|
NM_006268.5(DPF2):c.1049G>A (p.Arg350His)
|
rs1555032051
|
|
NM_006268.5(DPF2):c.1066T>G (p.Cys356Gly)
|
rs2137711041
|
|
NM_006268.5(DPF2):c.1067G>C (p.Cys356Ser)
|
|
|
NM_006268.5(DPF2):c.1094dup (p.Pro365_Glu366insTer)
|
|
|
NM_006268.5(DPF2):c.1099+1G>A
|
rs1555032074
|
|
NM_006268.5(DPF2):c.1099+2dup
|
rs2137711145
|
|
NM_006268.5(DPF2):c.203C>A (p.Ser68Tyr)
|
|
|
NM_006268.5(DPF2):c.364C>G (p.Leu122Val)
|
rs1854369385
|
|
NM_006268.5(DPF2):c.397G>C (p.Ala133Pro)
|
|
|
NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)
|
|
|
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)
|
rs1555031372
|
|
NM_006268.5(DPF2):c.904+20C>G
|
rs1301059856
|
|
NM_006268.5(DPF2):c.990C>G (p.Cys330Trp)
|
rs1555031500
|
|
NM_024773.3(KDM8):c.1086+14_1086+21del
|
rs773887912
|
|