ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 645
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=) rs3734441 0.52321
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.47115
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32485
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_001374828.1(ARID1B):c.4383-7A>G rs112318565 0.14423
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.356-14A>G rs111447132 0.03865
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03292
NM_003072.5(SMARCA4):c.2123+12C>T rs17001090 0.03024
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=) rs61738955 0.02808
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=) rs61747988 0.01682
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu) rs34870395 0.01415
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01325
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.00935
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00911
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=) rs112703040 0.00807
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00673
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00668
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00634
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00438
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00426
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00401
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00393
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00367
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=) rs141783755 0.00309
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=) rs150010654 0.00307
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00301
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00298
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_003072.5(SMARCA4):c.-43C>T rs574982898 0.00275
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=) rs142499766 0.00260
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00229
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_003072.5(SMARCA4):c.-72C>T rs559144002 0.00196
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_003072.5(SMARCA4):c.*401G>A rs559071626 0.00189
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00156
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00123
NM_003072.5(SMARCA4):c.*327T>C rs146968124 0.00109
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=) rs533517668 0.00107
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=) rs144894118 0.00106
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00084
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser) rs140177120 0.00076
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly) rs149841055 0.00071
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=) rs148749268 0.00067
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val) rs530780611 0.00066
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00066
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=) rs184815562 0.00064
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00064
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_003072.5(SMARCA4):c.*299C>T rs772399601 0.00056
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn) rs374989034 0.00055
NM_003072.5(SMARCA4):c.4171-13A>G rs201298366 0.00040
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=) rs1450163641 0.00036
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00034
NM_003072.5(SMARCA4):c.*25C>T rs189436737 0.00034
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00029
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp) rs139125255 0.00025
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val) rs138482029 0.00025
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713 0.00025
NM_001374828.1(ARID1B):c.2379T>C (p.His793=) rs370364530 0.00024
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00020
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00020
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala) rs1455234951 0.00019
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00019
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_001374828.1(ARID1B):c.395C>T (p.Ser132Phe) rs375486386 0.00018
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_003072.5(SMARCA4):c.4171-1858T>A rs201309716 0.00018
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_006015.6(ARID1A):c.5449G>A (p.Val1817Ile) rs375250508 0.00016
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00015
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=) rs746415437 0.00015
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val) rs201137071 0.00014
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr) rs201012033 0.00014
NM_001374828.1(ARID1B):c.1881G>A (p.Pro627=) rs142939952 0.00013
NM_001374828.1(ARID1B):c.417C>G (p.Gly139=) rs555625059 0.00012
NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala) rs1044746171 0.00012
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00011
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00011
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=) rs754242891 0.00009
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val) rs748273011 0.00008
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=) rs751242644 0.00008
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_001374828.1(ARID1B):c.*3T>C rs367616374 0.00006
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu) rs142466273 0.00006
NM_001374828.1(ARID1B):c.929T>C (p.Val310Ala) rs746730857 0.00005
NM_001374828.1(ARID1B):c.1951G>A (p.Gly651Arg) rs765362265 0.00004
NM_001374828.1(ARID1B):c.3266C>T (p.Pro1089Leu) rs540277176 0.00004
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser) rs141461351 0.00004
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys) rs1451259945 0.00004
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=) rs758438795 0.00004
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=) rs764939990 0.00004
NM_003072.5(SMARCA4):c.4170+5A>G rs749029481 0.00004
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala) rs749315126 0.00003
NM_001374828.1(ARID1B):c.4129A>G (p.Met1377Val) rs138784762 0.00003
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser) rs151115781 0.00003
NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln) rs751043203 0.00003
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln) rs751391187 0.00003
NM_001374828.1(ARID1B):c.6344C>T (p.Pro2115Leu) rs368420323 0.00003
NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser) rs561130072 0.00003
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00003
NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser) rs767293145 0.00002
NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly) rs1214970789 0.00002
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn) rs1159561275 0.00002
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=) rs752231248 0.00002
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn) rs761227259 0.00002
NM_001374828.1(ARID1B):c.3752A>G (p.Asn1251Ser) rs1408001716 0.00002
NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr) rs772615576 0.00002
NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val) rs777513652 0.00002
NM_001374828.1(ARID1B):c.5096C>T (p.Pro1699Leu) rs1455506883 0.00002
NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser) rs139181534 0.00002
NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu) rs962264300 0.00002
NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln) rs745924035 0.00002
NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser) rs774509236 0.00002
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962 0.00002
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=) rs374167170 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_003073.5(SMARCB1):c.-149C>T rs886057282 0.00002
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) rs1295137307 0.00002
NM_006015.6(ARID1A):c.6785C>T (p.Ser2262Leu) rs375849292 0.00002
NM_001128849.2(SMARCA4):c.*464G>T rs886054156 0.00001
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg) rs1401971317 0.00001
NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg) rs926297805 0.00001
NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser) rs1240329007 0.00001
NM_001374828.1(ARID1B):c.1334C>T (p.Ser445Phe) rs1380676072 0.00001
NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu) rs1235258455 0.00001
NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val) rs1442638389 0.00001
NM_001374828.1(ARID1B):c.1557C>G (p.Ser519Arg) rs1583026835 0.00001
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr) rs1296293849 0.00001
NM_001374828.1(ARID1B):c.1781G>T (p.Gly594Val) rs775035352 0.00001
NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile) rs1048427417 0.00001
NM_001374828.1(ARID1B):c.1897T>C (p.Tyr633His) rs747306459 0.00001
NM_001374828.1(ARID1B):c.1987-10T>G rs1276255111 0.00001
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00001
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu) rs779239519 0.00001
NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg) rs368202669 0.00001
NM_001374828.1(ARID1B):c.2729dup (p.Tyr910Ter) rs1314750809 0.00001
NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr) rs770228055 0.00001
NM_001374828.1(ARID1B):c.2909C>T (p.Pro970Leu) rs1057521656 0.00001
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=) rs371828409 0.00001
NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln) rs761133847 0.00001
NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg) rs1423681879 0.00001
NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala) rs140639463 0.00001
NM_001374828.1(ARID1B):c.4738A>G (p.Ser1580Gly) rs1464031481 0.00001
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val) rs752961325 0.00001
NM_001374828.1(ARID1B):c.493C>A (p.Gln165Lys) rs1460103880 0.00001
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val) rs762698567 0.00001
NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln) rs762183842 0.00001
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys) rs528801298 0.00001
NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr) rs772464386 0.00001
NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser) rs762587131 0.00001
NM_001374828.1(ARID1B):c.6723C>T (p.Tyr2241=) rs1300985005 0.00001
NM_001374828.1(ARID1B):c.6784G>A (p.Ala2262Thr) rs1413279513 0.00001
NM_001374828.1(ARID1B):c.6904C>G (p.Leu2302Val) rs766875935 0.00001
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp) rs920305028 0.00001
NM_003072.5(SMARCA4):c.*346G>A rs754087248 0.00001
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.2506-14T>C rs751003991 0.00001
NM_003072.5(SMARCA4):c.2565C>T (p.Val855=) rs775610559 0.00001
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=) rs767915497 0.00001
NM_003072.5(SMARCA4):c.355+9C>T rs767575401 0.00001
NM_003072.5(SMARCA4):c.3775-12A>G rs770956288 0.00001
NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=) rs780735376 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_003072.5(SMARCA4):c.4533+6C>A rs1311909722 0.00001
NM_003072.5(SMARCA4):c.4743C>T (p.Gly1581=) rs759862377 0.00001
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711 0.00001
NM_006015.6(ARID1A):c.328A>G (p.Arg110Gly) rs1444337339 0.00001
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn
GRCh37/hg19 19q13.33(chr19:48185250-48245216)x1
GRCh37/hg19 6q25.3(chr6:156858484-157854806)
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
GRCh37/hg19 6q25.3(chr6:157341357-157455697)
GRCh37/hg19 6q25.3(chr6:157377242-157431665)
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NM_001330288.2(SMARCC2):c.2549-2A>G
NM_001374828.1(ARID1B):c.1021C>T (p.Gln341Ter) rs1778885211
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1]) rs1562376911
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter) rs1583025138
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly) rs2114986662
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402_Ser403insGly) rs587779747
NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg) rs1453256339
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1]) rs773423003
NM_001374828.1(ARID1B):c.1278_1292del (p.Ala429_Ala433del) rs775733700
NM_001374828.1(ARID1B):c.1278_1308del (p.Ala431fs)
NM_001374828.1(ARID1B):c.1281_1292del (p.Ala430_Ala433del)
NM_001374828.1(ARID1B):c.1292C>T (p.Ala431Val) rs1321986430
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs) rs2546837371
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs) rs1778944605
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs) rs1554247989
NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys) rs1315757941
NM_001374828.1(ARID1B):c.1329del (p.Ser444fs) rs2546838229
NM_001374828.1(ARID1B):c.1355G>A (p.Ser452Asn) rs1778961039
NM_001374828.1(ARID1B):c.1393_1401del (p.Pro465_Gly467del)
NM_001374828.1(ARID1B):c.1400del (p.Gly467fs) rs2546839430
NM_001374828.1(ARID1B):c.1436G>A (p.Gly479Asp)
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs) rs1554248082
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs) rs2546840548
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs) rs1417035592
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs) rs1583026682
NM_001374828.1(ARID1B):c.1556G>A (p.Ser519Asn) rs770362902
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter) rs2114999746
NM_001374828.1(ARID1B):c.1574del (p.Ser525fs) rs2115000174
NM_001374828.1(ARID1B):c.1598C>T (p.Pro533Leu) rs1778998112
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr) rs1562378653
NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro) rs2546843411
NM_001374828.1(ARID1B):c.1616_1640del (p.Gln539fs)
NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla) rs1779002290
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del) rs1392865152
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter) rs1779009539
NM_001374828.1(ARID1B):c.1649_1659del (p.Gln550fs) rs1085307818
NM_001374828.1(ARID1B):c.1651C>A (p.Gln551Lys) rs1583027141
NM_001374828.1(ARID1B):c.1718G>A (p.Trp573Ter)
NM_001374828.1(ARID1B):c.1729C>T (p.Gln577Ter) rs2546846179
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter) rs1554248236
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs) rs1779022643
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs) rs1289149988
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1811del (p.Met604fs) rs2547121857
NM_001374828.1(ARID1B):c.1853dup (p.His619fs) rs2547122632
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) rs1057518951
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter) rs1554256703
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter) rs754167205
NM_001374828.1(ARID1B):c.1940del (p.Gly647fs) rs2547124143
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp) rs143370913
NM_001374828.1(ARID1B):c.1987-29742G>A rs1554261846
NM_001374828.1(ARID1B):c.19GCG[7] (p.Ala14del) rs1046451353
NM_001374828.1(ARID1B):c.2002G>T (p.Gly668Ter) rs1554265253
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter) rs773640553
NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter) rs1554265271
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs) rs1582908829
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2058del (p.Gln686fs) rs2128210848
NM_001374828.1(ARID1B):c.2073dup (p.His692fs) rs2128210922
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs) rs2128210949
NM_001374828.1(ARID1B):c.2086dup (p.Gln696fs) rs2128210962
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter) rs1554265316
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs) rs1554265319
NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter) rs387907142
NM_001374828.1(ARID1B):c.2137-3dup rs541477699
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter) rs1554270809
NM_001374828.1(ARID1B):c.2187del (p.Gly730fs) rs2535348456
NM_001374828.1(ARID1B):c.2221_2222dup (p.Gln741fs) rs2535350159
NM_001374828.1(ARID1B):c.2239dup (p.Ser747fs) rs2128275227
NM_001374828.1(ARID1B):c.2248-2A>G rs2128462015
NM_001374828.1(ARID1B):c.2254_2257del (p.Ser752fs) rs2537075380
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter) rs753933273
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) rs1583280025
NM_001374828.1(ARID1B):c.2400del (p.Ser800fs) rs1583280152
NM_001374828.1(ARID1B):c.2411dup (p.Ser806fs) rs1554294674
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter) rs869312712
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs) rs1554294698
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val) rs2128463445
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg) rs2128463505
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser) rs1349412123
NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter) rs1554298232
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser) rs1057518045
NM_001374828.1(ARID1B):c.2582-2A>C rs1057524160
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp) rs1057518648
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs) rs1554301230
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs) rs1583368813
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs) rs2537640975
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs) rs2537641958
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG rs2537883228
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val) rs2128633891
NM_001374828.1(ARID1B):c.2773A>T (p.Arg925Ter) rs1554226001
NM_001374828.1(ARID1B):c.2797C>T (p.Pro933Ser)
NM_001374828.1(ARID1B):c.2844del (p.Asn949fs) rs2128634170
NM_001374828.1(ARID1B):c.2849del (p.Asn950fs)
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter) rs1168117828
NM_001374828.1(ARID1B):c.2875C>T (p.Gln959Ter) rs138254872
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg) rs1554226059
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter) rs2128634414
NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val) rs771600870
NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly) rs1370276287
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer) rs2128634579
NM_001374828.1(ARID1B):c.2980T>C (p.Ser994Pro) rs1789987002
NM_001374828.1(ARID1B):c.3007C>A (p.Pro1003Thr) rs1239914614
NM_001374828.1(ARID1B):c.3029G>T (p.Arg1010Leu)
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter) rs1554226145
NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile) rs2128635041
NM_001374828.1(ARID1B):c.3101del (p.Phe1034fs) rs2128290268
NM_001374828.1(ARID1B):c.3126del (p.Met1043fs) rs1791374798
NM_001374828.1(ARID1B):c.3154C>T (p.Pro1052Ser) rs1791377235
NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs) rs2538148588
NM_001374828.1(ARID1B):c.3172A>G (p.Ser1058Gly) rs2128290736
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys) rs2128290781
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=) rs537901478
NM_001374828.1(ARID1B):c.3230_3235+7del rs1583438967
NM_001374828.1(ARID1B):c.3235+2T>A rs1583439013
NM_001374828.1(ARID1B):c.3247_3248del (p.Leu1083fs) rs2128303803
NM_001374828.1(ARID1B):c.3261del (p.Met1087fs) rs2538250313
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter) rs902091666
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) rs1583451146
NM_001374828.1(ARID1B):c.3293_3294del (p.Leu1098fs)
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs) rs1131692263
NM_001374828.1(ARID1B):c.3308A>G (p.Lys1103Arg) rs2538251595
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs) rs1791918216
NM_001374828.1(ARID1B):c.3330del (p.Glu1111fs)
NM_001374828.1(ARID1B):c.3341C>G (p.Ser1114Ter)
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=) rs1583451360
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn) rs1583451360
NM_001374828.1(ARID1B):c.3362_3363del (p.Gln1121fs) rs2128305623
NM_001374828.1(ARID1B):c.3505-2A>G rs2128316571
NM_001374828.1(ARID1B):c.3527del (p.Thr1176fs) rs2128316690
NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs) rs2538355363
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs) rs1792478147
NM_001374828.1(ARID1B):c.3585G>A (p.Trp1195Ter) rs1554231205
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter) rs1562328526
NM_001374828.1(ARID1B):c.3607A>C (p.Met1203Leu) rs760633180
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs) rs1057519009
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs) rs2128317569
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs) rs876657380
NM_001374828.1(ARID1B):c.3704G>C (p.Gly1235Ala)
NM_001374828.1(ARID1B):c.3714+1G>A rs1554231278
NM_001374828.1(ARID1B):c.3714+2T>G rs1404726383
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter) rs1554231792
NM_001374828.1(ARID1B):c.3735G>T (p.Trp1245Cys)
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter) rs1583469292
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter) rs1554231836
NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter) rs2128325330
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs) rs1554231845
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs) rs2128325428
NM_001374828.1(ARID1B):c.3827del (p.Glu1276fs) rs2128325440
NM_001374828.1(ARID1B):c.3901dup (p.Leu1301fs) rs2128325986
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter) rs1554231904
NM_001374828.1(ARID1B):c.3906G>C (p.Gln1302His)
NM_001374828.1(ARID1B):c.3917del (p.Pro1306fs) rs1562331655
NM_001374828.1(ARID1B):c.3924dup (p.Ser1309fs) rs2538498109
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs) rs2538498293
NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter) rs1554232919
NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter) rs1554232925
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.3967dup (p.Ser1323fs) rs2538499186
NM_001374828.1(ARID1B):c.4001dup (p.Pro1335fs) rs1554232959
NM_001374828.1(ARID1B):c.4028del (p.His1343fs)
NM_001374828.1(ARID1B):c.4058+1G>C rs1057518691
NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter) rs772973856
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs) rs1554233122
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter) rs1182325800
NM_001374828.1(ARID1B):c.4171G>A (p.Asp1391Asn)
NM_001374828.1(ARID1B):c.4205dup (p.Asp1403fs)
NM_001374828.1(ARID1B):c.4215del (p.Phe1405fs) rs2128339990
NM_001374828.1(ARID1B):c.4232-1G>A rs2128355925
NM_001374828.1(ARID1B):c.4234_4237del (p.Pro1412fs)
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg) rs1453138221
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs) rs1583491381
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter) rs1554234341
NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter) rs387907140
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) rs1583491515
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter) rs1554234402
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.4383-1G>A rs886044620
NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer) rs2538639034
NM_001374828.1(ARID1B):c.4397G>A (p.Gly1466Glu)
NM_001374828.1(ARID1B):c.4400dup (p.Gln1468fs) rs2538639222
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter) rs748363079
NM_001374828.1(ARID1B):c.4442_4443dup (p.Gly1482fs) rs2538640861
NM_001374828.1(ARID1B):c.4444_4445dup (p.Gly1483fs) rs2128366431
NM_001374828.1(ARID1B):c.4478del (p.Pro1493fs) rs2128366725
NM_001374828.1(ARID1B):c.4479+1G>T rs1554235041
NM_001374828.1(ARID1B):c.4479+2T>C
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4480-8A>G rs1252519291
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs) rs2538669304
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter) rs377021700
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter) rs1554235505
NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu) rs1049209609
NM_001374828.1(ARID1B):c.4530dup (p.Glu1511fs) rs2128372410
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter) rs1554235541
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys) rs1554235555
NM_001374828.1(ARID1B):c.4593_4594del (p.Gly1532fs) rs2128372755
NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs) rs2128372930
NM_001374828.1(ARID1B):c.4637A>G (p.Tyr1546Cys) rs1794051416
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter) rs2128373069
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs) rs879253746
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs) rs2538674041
NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser) rs2538674514
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs) rs1794053879
NM_001374828.1(ARID1B):c.4692C>A (p.His1564Gln) rs917868982
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter) rs797045278
NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val) rs1794058864
NM_001374828.1(ARID1B):c.4726C>T (p.Gln1576Ter)
NM_001374828.1(ARID1B):c.4763G>A (p.Trp1588Ter)
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs) rs2538677887
NM_001374828.1(ARID1B):c.4785T>G (p.Pro1595=) rs2538678250
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter) rs1562345819
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter) rs1380267781
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs) rs2128374043
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter) rs1064793482
NM_001374828.1(ARID1B):c.4870dup (p.Val1624fs) rs2128374526
NM_001374828.1(ARID1B):c.4889del (p.Asn1630fs) rs2128374644
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys) rs1340183572
NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter) rs1554235834
NM_001374828.1(ARID1B):c.4911dup (p.His1638fs) rs2538681872
NM_001374828.1(ARID1B):c.4921C>T (p.Gln1641Ter) rs1554235841
NM_001374828.1(ARID1B):c.4968_4969del (p.Arg1657fs) rs2538683847
NM_001374828.1(ARID1B):c.4991_5000del (p.Gln1664fs) rs876657382
NM_001374828.1(ARID1B):c.5026G>T (p.Ala1676Ser) rs1794096456
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter) rs1554235916
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1]) rs767952510
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val) rs1794104878
NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys) rs976192470
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs) rs2538690501
NM_001374828.1(ARID1B):c.519CCA[8] (p.His178_His179dup) rs754114025
NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter) rs1554236027
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5258del (p.Asp1753fs) rs1562347066
NM_001374828.1(ARID1B):c.5263+1G>T rs2128377544
NM_001374828.1(ARID1B):c.5264-2A>G rs1794274425
NM_001374828.1(ARID1B):c.5276dup (p.Trp1760fs) rs2538725903
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs) rs1794276185
NM_001374828.1(ARID1B):c.5285_5294delinsAGA (p.Val1762fs) rs2128385309
NM_001374828.1(ARID1B):c.5323A>G (p.Thr1775Ala) rs2538726732
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs) rs2128385522
NM_001374828.1(ARID1B):c.5394+1G>A rs1057518984
NM_001374828.1(ARID1B):c.5394+3A>C rs1794283740
NM_001374828.1(ARID1B):c.5395-1G>A rs2538754639
NM_001374828.1(ARID1B):c.5395-2A>C rs1562350940
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs) rs2538754819
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs) rs2128391037
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs) rs1794427847
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs) rs2538755076
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs) rs797045279
NM_001374828.1(ARID1B):c.5496del (p.Ala1833fs) rs2128391447
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs) rs797045280
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs) rs797045281
NM_001374828.1(ARID1B):c.5548G>C (p.Asp1850His) rs771781497
NM_001374828.1(ARID1B):c.5570A>G (p.Asp1857Gly) rs2538758120
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs) rs2128392250
NM_001374828.1(ARID1B):c.5633_5636del (p.Thr1878fs) rs2128392335
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter) rs1794456297
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5693del (p.Lys1898fs) rs2538761879
NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter) rs387907143
NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter) rs750447037
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs) rs2538762702
NM_001374828.1(ARID1B):c.5754C>G (p.Asn1918Lys)
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter) rs1554237332
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter) rs1554237335
NM_001374828.1(ARID1B):c.5840del (p.Gly1947fs) rs2128393408
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter) rs1451259945
NM_001374828.1(ARID1B):c.5856_5857del (p.Ile1953fs)
NM_001374828.1(ARID1B):c.5867_5872delinsC (p.His1956fs) rs2538766341
NM_001374828.1(ARID1B):c.586T>C (p.Phe196Leu) rs2546821961
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys) rs1369594791
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu) rs758748419
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs) rs2128393700
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.591GCA[11] (p.Gln214_His215insGlnGlnGlnGln) rs587779743
NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln) rs587779743
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln) rs587779743
NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro) rs1263775695
NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr) rs183921218
NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser) rs183921218
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.5963_5964del (p.Asp1987_Ser1988insTer) rs2538768546
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs) rs876657381
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly) rs1794492217
NM_001374828.1(ARID1B):c.6058del (p.Gln2020fs) rs2128394491
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6085_6086del (p.Gly2029fs) rs2128394615
NM_001374828.1(ARID1B):c.6094del (p.Gln2032fs) rs2128394676
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs) rs2538772819
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs) rs1554247377
NM_001374828.1(ARID1B):c.612_620del (p.Gln212_Gln214del) rs797045274
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs) rs2538775159
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter) rs1028186690
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly) rs2128395673
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter) rs2128395778
NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu) rs2128395778
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr) rs1583516082
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer) rs2538779301
NM_001374828.1(ARID1B):c.6319G>A (p.Glu2107Lys) rs786205584
NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter) rs786205584
NM_001374828.1(ARID1B):c.6334_6335del (p.Lys2112fs) rs1554237785
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs) rs2538781228
NM_001374828.1(ARID1B):c.6362_6363del (p.Glu2121fs) rs2538781275
NM_001374828.1(ARID1B):c.6377dup (p.Val2128fs) rs2128396622
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter) rs2538782467
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter) rs1554237850
NM_001374828.1(ARID1B):c.6412del (p.Asp2138fs) rs2128396828
NM_001374828.1(ARID1B):c.6451_6453del (p.Leu2151del) rs2538783302
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter) rs869312697
NM_001374828.1(ARID1B):c.6496A>G (p.Ser2166Gly) rs746220769
NM_001374828.1(ARID1B):c.6497dup (p.Ser2166fs) rs2128397334
NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr) rs2128397469
NM_001374828.1(ARID1B):c.6533G>A (p.Trp2178Ter)
NM_001374828.1(ARID1B):c.6567del (p.Pro2191fs) rs2128397593
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe) rs1794548648
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs) rs1794549840
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro) rs1794550318
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter) rs1554237988
NM_001374828.1(ARID1B):c.6623_6650dup (p.Asn2217_Asn2218insProLeuTer) rs1554237992
NM_001374828.1(ARID1B):c.6624_6625del (p.Leu2209_Cys2210insTer) rs886040958
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter) rs1554238035
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001374828.1(ARID1B):c.6762del (p.Met2255fs) rs2538789882
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs) rs2128398457
NM_001374828.1(ARID1B):c.6793del (p.Asp2265fs)
NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs) rs876657379
NM_001374828.1(ARID1B):c.6834C>G (p.Ser2278Arg) rs1794564510
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs) rs1562354784
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs) rs2128398868
NM_001374828.1(ARID1B):c.6880C>T (p.Gln2294Ter) rs1554238124
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter) rs758120346
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs) rs1583518354
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs) rs1794570475
NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs) rs2538793280
NM_001374828.1(ARID1B):c.6929del (p.Leu2310fs)
NM_001374828.1(ARID1B):c.6935del (p.Pro2312fs) rs2128399165
NM_001374828.1(ARID1B):c.6946_6947del (p.Asp2316fs)
NM_001374828.1(ARID1B):c.6997G>T (p.Glu2333Ter) rs756960968
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu) rs146468586
NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp) rs1390972891
NM_001374828.1(ARID1B):c.7046C>T (p.Ser2349Leu) rs1263114512
NM_001374828.1(ARID1B):c.7052C>A (p.Ser2351Ter) rs1794583960
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter) rs1794583960
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs) rs1562355401
NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu) rs1171803835
NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu) rs1171803835
NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr) rs1323525221
NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro) rs1554247605
NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu) rs1439723202
NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter) rs2546829263
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=) rs745740327
NM_001394372.1(BICRA):c.3313C>T (p.Pro1105Ser)
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_003072.5(SMARCA4):c.*34C>G rs780956095
NM_003072.5(SMARCA4):c.-32+11C>T rs886054150
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1761+6C>T rs886054152
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
NM_003072.5(SMARCA4):c.2194T>G (p.Tyr732Asp)
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn) rs886054153
NM_003072.5(SMARCA4):c.2616+14G>T rs886054154
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg) rs1568566518
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu) rs886054151
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.*70C>T
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1119-12C>G rs1295969050
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.796-1G>A rs2146026614
NM_003073.5(SMARCB1):c.93+559A>G
NM_003073.5(SMARCB1):c.986+2T>C rs2030331202
NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe) rs576492044
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup) rs777773061
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu) rs2081008426
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe) rs1553152590
NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu) rs2081052495
NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs) rs2081053573
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006015.6(ARID1A):c.3344C>G (p.Pro1115Arg)
NM_006015.6(ARID1A):c.3487C>T (p.Pro1163Ser) rs2124104504
NM_006015.6(ARID1A):c.3902G>A (p.Ser1301Asn)
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.6163A>G (p.Met2055Val)
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) rs1553153771
NM_006015.6(ARID1A):c.908G>C (p.Ser303Thr)
NM_006268.5(DPF2):c.433G>A (p.Glu145Lys)
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) rs1555031372
NM_024773.3(KDM8):c.1086+14_1086+21del rs773887912
NM_152641.4(ARID2):c.1822A>G (p.Ile608Val)
NM_152641.4(ARID2):c.2842C>T (p.Leu948Phe)
NM_152641.4(ARID2):c.2927C>G (p.Pro976Arg) rs1320142801
NM_152641.4(ARID2):c.2974T>A (p.Ser992Thr)
NM_152641.4(ARID2):c.3964A>T (p.Ile1322Phe)

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