ClinVar Miner

List of variants studied for Coffin-Siris syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1558
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HGVS dbSNP gnomAD frequency
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

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