ClinVar Miner

List of variants reported as pathogenic for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 686
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00003
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_018489.3(ASH1L):c.6238G>A (p.Val2080Ile) rs749494995 0.00002
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NM_005121.3(MED13):c.5683_5684del (p.Met1895fs) rs750570850 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 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 12q12(chr12:46150008-46321670)x1
GRCh37/hg19 12q12(chr12:46168172-46304719)x1
GRCh37/hg19 1q43-44(chr1:242816510-244797117)
GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3
GRCh37/hg19 5q14.3(chr5:88065061-88406446)
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 1q42.3-44(chr1:235215476-247005888)x1
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1
GRCh38/hg38 1q44(chr1:244051186-244055631)x1
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
NC_000003.11:g.136254742_136427833del
NC_000005.10:g.(?_88722584)_(88823808_?)del
NC_000005.10:g.(?_88804588)_(88884466_?)del
NC_000005.10:g.88731902del
NC_000005.10:g.88846693_89051376delinsG
NC_000005.9:g.(?_87776690)_(88119605_?)del
NC_000005.9:g.(?_88027526)_(88027738_?)del
NC_000005.9:g.(?_88047654)_(88047880_?)del
NC_000005.9:g.(?_88056982)_(88119605_?)del
NC_000005.9:g.(?_88100395)_(88100638_?)del
NC_000005.9:g.(?_88100395)_(88119605_?)del
NC_000005.9:g.(?_88625195)_(90796047_?)inv
NC_000006.12:g.(117676084_117693041)_(117693166_117694030)del
NC_000007.13:g.153649777_153985995del
NC_000012.11:g.46125066_46230365del
NC_000012.12:g.45690000_45750000del
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys) rs1554402092
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001220.5(CAMK2B):c.638C>T (p.Pro213Leu) rs1554387293
NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys) rs1554386687
NM_001220.5(CAMK2B):c.852A>T (p.Arg284Ser) rs1554385203
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_001287737.2(SETSIP):c.648G>A (p.Glu216=)
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs) rs1597453595
NM_001321075.3(DLG4):c.1072C>T (p.Gln358Ter) rs2142845390
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001321075.3(DLG4):c.1084-1G>T rs2142844164
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter) rs1597452702
NM_001321075.3(DLG4):c.1176T>G (p.Tyr392Ter)
NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter) rs2069779430
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter) rs2069778929
NM_001321075.3(DLG4):c.1295_1301+10del
NM_001321075.3(DLG4):c.129del (p.Asp43fs)
NM_001321075.3(DLG4):c.1381_1384del (p.His461fs)
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) rs2069660959
NM_001321075.3(DLG4):c.143dup (p.Gly49fs)
NM_001321075.3(DLG4):c.1458del (p.Phe487fs) rs2142830670
NM_001321075.3(DLG4):c.1478+2T>C rs542036630
NM_001321075.3(DLG4):c.1478+4_1478+19del rs2142830394
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter) rs2142828228
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter) rs1567528092
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) rs869312859
NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter) rs1160688414
NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter) rs2142828170
NM_001321075.3(DLG4):c.1512dup (p.Lys505fs)
NM_001321075.3(DLG4):c.1543+2T>C rs1597444614
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) rs778104648
NM_001321075.3(DLG4):c.1592-1G>A rs2142825829
NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter) rs2142825224
NM_001321075.3(DLG4):c.1693+1G>A rs2142825211
NM_001321075.3(DLG4):c.1696dup (p.Thr566fs)
NM_001321075.3(DLG4):c.1697del (p.Thr566fs) rs2142822298
NM_001321075.3(DLG4):c.1714del (p.Glu572fs) rs1597442444
NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln) rs2142821925
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile) rs2142821651
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter) rs767384318
NM_001321075.3(DLG4):c.1855del (p.Val619fs) rs2142821587
NM_001321075.3(DLG4):c.1866+2T>C rs2142821543
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter) rs1451196379
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter) rs2142888007
NM_001321075.3(DLG4):c.1976+235C>T
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs) rs2142803273
NM_001321075.3(DLG4):c.2082dup (p.Asp695Ter)
NM_001321075.3(DLG4):c.211-2A>G rs2142886707
NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter) rs2142886687
NM_001321075.3(DLG4):c.243dup (p.Gly82fs) rs2142886600
NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter) rs2142886433
NM_001321075.3(DLG4):c.326del (p.Gly109fs) rs1597472411
NM_001321075.3(DLG4):c.339del (p.Asn114fs) rs2142885916
NM_001321075.3(DLG4):c.410_411del (p.Leu137fs) rs2142885592
NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter) rs2142885279
NM_001321075.3(DLG4):c.525dup (p.Gly176fs) rs1597471063
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val) rs2142884288
NM_001321075.3(DLG4):c.605del (p.Lys202fs) rs1064795686
NM_001321075.3(DLG4):c.642G>A (p.Ala214=) rs2142883774
NM_001321075.3(DLG4):c.787+2T>C rs2142881946
NM_001321075.3(DLG4):c.788-1669_1302-397del
NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter) rs2069827755
NM_001321075.3(DLG4):c.796C>T (p.Gln266Ter)
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) rs1182894684
NM_001321075.3(DLG4):c.932del (p.Pro311fs)
NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter)
NM_001321075.3(DLG4):c.94C>T (p.Gln32Ter)
NM_001321075.3(DLG4):c.974dup (p.Asn326fs)
NM_001321075.3(DLG4):c.981_982dup (p.Val328fs)
NM_001321075.3(DLG4):c.990C>T (p.Gly330=) rs769940216
NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) rs1553636520
NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter) rs1575419803
NM_001348323.3(TRIP12):c.1787_1800del (p.Met596fs)
NM_001348323.3(TRIP12):c.2065C>T (p.Gln689Ter)
NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs) rs2154275777
NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter) rs2154270715
NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter) rs1575203936
NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs) rs1553620494
NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter) rs1575161164
NM_001348323.3(TRIP12):c.3482+1G>A rs1553616463
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer) rs1553614300
NM_001348323.3(TRIP12):c.3816+2T>A
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
NM_001348323.3(TRIP12):c.3968+1G>A rs1553612358
NM_001348323.3(TRIP12):c.399dup (p.Pro134fs) rs2060119917
NM_001348323.3(TRIP12):c.4216-2A>G
NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)
NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter)
NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs) rs2041642562
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) rs2154256586
NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln) rs1553602821
NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)
NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs) rs2036605188
NM_001348323.3(TRIP12):c.5675del (p.Asn1892fs)
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) rs1553704327
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs) rs1554248082
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs) rs1417035592
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter) rs2114999746
NM_001374828.1(ARID1B):c.1574del (p.Ser525fs) rs2115000174
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
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.1732C>T (p.Gln578Ter) rs1554248236
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs) rs1289149988
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.2038C>T (p.Gln680Ter) rs1554265271
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2058del (p.Gln686fs) rs2128210848
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.2170C>T (p.Gln724Ter) rs1554270809
NM_001374828.1(ARID1B):c.2248-2A>G rs2128462015
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.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.2572C>T (p.Gln858Ter) rs1554298232
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs) rs1554301230
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs) rs1583368813
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.2851C>T (p.Gln951Ter)
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)
NM_001374828.1(ARID1B):c.3101del (p.Phe1034fs) rs2128290268
NM_001374828.1(ARID1B):c.3126del (p.Met1043fs) rs1791374798
NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs)
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.3312dup (p.Glu1105fs) rs1791918216
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.3532del (p.Glu1178fs)
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.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.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.3827del (p.Glu1276fs) rs2128325440
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter) rs1554231904
NM_001374828.1(ARID1B):c.3917del (p.Pro1306fs) rs1562331655
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.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.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.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.4488del (p.Lys1496fs)
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.4552C>T (p.Gln1518Ter) rs1554235541
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs) rs879253746
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs) rs1794053879
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter) rs1562345819
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
NM_001374828.1(ARID1B):c.4870dup (p.Val1624fs) rs2128374526
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.5189_5194delinsAGGCT (p.Thr1730fs)
NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter) rs1554236027
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.5281dup (p.Arg1761fs) rs1794276185
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs) rs2128385522
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs) rs797045279
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs) rs797045280
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs) rs797045281
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
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.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter) rs1554237335
NM_001374828.1(ARID1B):c.5867_5872delinsC (p.His1956fs)
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs) rs876657381
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6094del (p.Gln2032fs) rs2128394676
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter) rs1028186690
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter) rs2128395778
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.6377dup (p.Val2128fs) rs2128396622
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter) rs1554237850
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter) rs869312697
NM_001374828.1(ARID1B):c.6497dup (p.Ser2166fs) rs2128397334
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs) rs1794549840
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)
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)
NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs) rs876657379
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.7052C>G (p.Ser2351Ter) rs1794583960
NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs) rs1562355401
NM_001379029.1(CERT1):c.-114G>T rs1554048616
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001386298.1(CIC):c.1100dup (p.Pro368fs) rs2147014804
NM_001386298.1(CIC):c.3059dup (p.His1021fs)
NM_001386298.1(CIC):c.3163_3164del (p.Glu1054_Ser1055insTer) rs1599892470
NM_001386298.1(CIC):c.3179+1G>T rs2147185256
NM_001386298.1(CIC):c.3400C>T (p.Gln1134Ter) rs1282986679
NM_001386298.1(CIC):c.3410G>A (p.Arg1137Gln) rs2147198843
NM_001386298.1(CIC):c.3784C>T (p.Arg1262Ter) rs1135401823
NM_001386298.1(CIC):c.4201C>T (p.Arg1401Trp) rs373584239
NM_001386298.1(CIC):c.4528_4535dup (p.Glu1513fs) rs1135401824
NM_001386298.1(CIC):c.5298_5313del (p.Pro1767fs) rs1555769968
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter) rs1135401825
NM_001386298.1(CIC):c.6074dup (p.Ser2026fs)
NM_001386298.1(CIC):c.6166_6167del (p.Ala2056fs) rs2147313207
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.228T>A (p.Asp76Glu) rs869312822
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp) rs1135401746
NM_002074.5(GNB1):c.230G>T (p.Gly77Val) rs1135401746
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.268-1G>T rs2100699964
NM_002074.5(GNB1):c.272_275del (p.His91fs) rs2100699881
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr) rs1557889974
NM_002074.5(GNB1):c.281C>G (p.Pro94Arg)
NM_002074.5(GNB1):c.287G>T (p.Arg96Leu) rs1646670990
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.341G>A (p.Cys114Tyr) rs1313820360
NM_002074.5(GNB1):c.388G>A (p.Glu130Lys) rs1553194155
NM_002074.5(GNB1):c.915_916del (p.Gly306fs) rs2100479399
NM_002074.5(GNB1):c.917-1G>T rs2100451989
NM_002397.4:c.(?_-1)_(*1_?)del
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-66A>T rs1350600010
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro) rs397514655
NM_002397.5(MEF2C):c.192dup (p.Val65fs) rs1580988138
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter) rs2153074000
NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)
NM_002397.5(MEF2C):c.258+2T>C
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_002397.5(MEF2C):c.401_402+2del rs1561875779
NM_002397.5(MEF2C):c.402+1G>A
NM_002397.5(MEF2C):c.403-1G>A
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro) rs1202957297
NM_002397.5(MEF2C):c.458del (p.Asn153fs) rs730882192
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter) rs1554150552
NM_002397.5(MEF2C):c.468del (p.Tyr157fs)
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.559dup (p.Thr187fs) rs2152524628
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) rs267607233
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002397.5(MEF2C):c.780dup (p.Pro261fs) rs1561697465
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.881del (p.Pro294fs)
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
NM_002397.5(MEF2C):c.908dup (p.Leu303fs) rs1581338441
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
NM_002397.5(MEF2C):c.965-2A>G rs1759968705
NM_002397.5(MEF2C):c.988del (p.Leu330fs) rs1759964009
NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs)
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter) rs2153074822
NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser) rs876661308
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003011.4(SET):c.244T>G (p.Trp82Gly) rs1554776500
NM_003011.4(SET):c.313C>T (p.His105Tyr) rs1564360978
NM_003011.4(SET):c.418_419del (p.Ser140fs) rs1589460606
NM_003011.4(SET):c.458C>A (p.Ser153Ter) rs764645296
NM_003011.4(SET):c.650_651dup (p.Gln218fs) rs1554776933
NM_003011.4(SET):c.660_662del (p.Tyr220_Leu221delinsTer) rs1554776938
NM_003011.4(SET):c.663+5G>C rs1861628072
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del) rs876657378
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys) rs1600082188
NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys) rs2146360458
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter) rs2146417384
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003072.5(SMARCA4):c.4171-1789C>T rs2075455200
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs) rs1555881563
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.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
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_003108.4(SOX11):c.1286G>A (p.Trp429Ter) rs1057518672
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)
NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)
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.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
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.700G>T (p.Glu234Ter) rs780122780
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_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs) rs2032737696
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) rs1598211790
NM_004859.4(CLTC):c.1898T>A (p.Leu633Ter)
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val) rs2143556646
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004859.4(CLTC):c.2438del (p.Pro813fs)
NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer) rs2143580660
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs) rs2033035924
NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro) rs1555607159
NM_004859.4(CLTC):c.3249+1G>C
NM_004859.4(CLTC):c.3339dup (p.Ala1114fs)
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter) rs2143593640
NM_004859.4(CLTC):c.3765+1G>A rs2143594831
NM_004859.4(CLTC):c.3766-13_3766-5del rs2143595030
NM_004859.4(CLTC):c.4575dup (p.Glu1526fs) rs1555607621
NM_004859.4(CLTC):c.4602C>G (p.Tyr1534Ter) rs766317685
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004859.4(CLTC):c.977_980del (p.Ser326fs) rs1555604778
NM_005112.2(WDR1):c.4198C>T rs540561511
NM_005121.3(MED13):c.1513C>T (p.Gln505Ter)
NM_005121.3(MED13):c.1745T>A (p.Leu582Ter) rs780070113
NM_005121.3(MED13):c.2524C>T (p.Gln842Ter) rs2143471373
NM_005121.3(MED13):c.2593_2594del (p.Gly865fs)
NM_005121.3(MED13):c.4191+1G>A rs2143386698
NM_005121.3(MED13):c.4417_4418del (p.Leu1473fs)
NM_005121.3(MED13):c.4487del (p.Thr1496fs) rs2080047817
NM_005121.3(MED13):c.712C>T (p.Gln238Ter) rs2143687619
NM_005121.3(MED13):c.977C>T (p.Thr326Ile) rs1603405457
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1433A>C (p.His478Pro) rs1553722309
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs) rs1553722294
NM_005862.3(STAG1):c.1736dup (p.Ser580fs) rs1553718528
NM_005862.3(STAG1):c.260del (p.Leu87fs) rs1576656734
NM_005862.3(STAG1):c.391C>T (p.Arg131Ter) rs1937166346
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)
NM_006015.6(ARID1A):c.1113del (p.Gln372fs) rs875989848
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter) rs1557591264
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.1850C>A (p.Ser617Ter) rs2124792461
NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter) rs2124056600
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) rs387906845
NM_006015.6(ARID1A):c.2879-1G>A rs1570607996
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp) rs2124086560
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter) rs2081053546
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter) rs875989849
NM_006015.6(ARID1A):c.394del (p.Val132fs) rs797045263
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter) rs1485978447
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter) rs2081169212
NM_006015.6(ARID1A):c.5693del (p.Pro1898fs) rs1570621899
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs) rs2124144295
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter) rs879255270
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs) rs1557620758
NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs) rs1557570794
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.827G>T (p.Cys276Phe) rs1555031372
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs) rs2114653975
NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter) rs869312843
NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter) rs869312842
NM_006734.4(HIVEP2):c.3461_3492dup (p.Glu1165fs) rs1562505675
NM_006734.4(HIVEP2):c.3556C>T (p.Gln1186Ter) rs878853269
NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter) rs1562505335
NM_006734.4(HIVEP2):c.5614dup (p.Glu1872fs) rs869312844
NM_006734.4(HIVEP2):c.5653A>T (p.Lys1885Ter)
NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter) rs1775204653
NM_006734.4(HIVEP2):c.5737del (p.Asp1913fs) rs878853251
NM_006734.4(HIVEP2):c.5791dup (p.Thr1931fs) rs2114611687
NM_006734.4(HIVEP2):c.5856dup (p.Val1953fs) rs2114611483
NM_006734.4(HIVEP2):c.5890G>T (p.Gly1964Ter) rs2114611238
NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs) rs1064796034
NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter) rs761993070
NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter) rs1562493608
NM_006734.4(HIVEP2):c.868G>T (p.Glu290Ter)
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
NM_006852.6(TLK2):c.1357G>T (p.Glu453Ter) rs2081105269
NM_006852.6(TLK2):c.1366A>T (p.Lys456Ter) rs2146767502
NM_006852.6(TLK2):c.1460+2T>G rs1555651572
NM_006852.6(TLK2):c.1550+1G>A rs2147105351
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
NM_006852.6(TLK2):c.1651C>T (p.Gln551Ter) rs1568003569
NM_006852.6(TLK2):c.1720+1G>T rs1555660806
NM_006852.6(TLK2):c.1784C>T (p.Ser595Leu) rs2082914686
NM_006852.6(TLK2):c.181C>T (p.Arg61Ter) rs1567844041
NM_006852.6(TLK2):c.202G>T (p.Glu68Ter) rs1567844114
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.2107C>T (p.Arg703Ter) rs1598940393
NM_006852.6(TLK2):c.267+1G>A
NM_006852.6(TLK2):c.364C>T (p.Arg122Ter) rs1567870541
NM_006852.6(TLK2):c.36del (p.Gln13fs) rs2144334211
NM_006852.6(TLK2):c.37C>T (p.Gln13Ter) rs1567758622
NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter) rs1567920106
NM_006852.6(TLK2):c.784C>T (p.Arg262Ter) rs1567920209
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter) rs138247472
NM_006852.6(TLK2):c.968+1G>A rs1598620094
NM_006852.6(TLK2):c.968+1G>C rs1598620094
NM_006852.6(TLK2):c.989C>A (p.Ser330Ter) rs1555644480
NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly) rs1554065887
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu) rs1747667518
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter) rs748670822
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser) rs1554122526
NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp) rs1287121256
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val) rs1554122129
NM_015981.4(CAMK2A):c.635C>A (p.Pro212Gln) rs926027867
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu) rs926027867
NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter)
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu) rs864309606
NM_015981.4(CAMK2A):c.817-1G>A rs1554121878
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg) rs1554121875
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro) rs1554121872
NM_017491.5(WDR1):c.392T>G (p.Phe131Cys) rs1712445918
NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)
NM_017635.5(KMT5B):c.1411G>T (p.Glu471Ter)
NM_017635.5(KMT5B):c.1530_1534del (p.His512fs) rs2153040748
NM_017635.5(KMT5B):c.1557_1558del (p.Asn520fs) rs1555023232
NM_017635.5(KMT5B):c.1823del (p.Gly608fs)
NM_017635.5(KMT5B):c.219del (p.Ala74fs) rs1565240833
NM_017635.5(KMT5B):c.255del (p.Ser86fs) rs1555034768
NM_017635.5(KMT5B):c.541C>G (p.His181Asp) rs2153055850
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017635.5(KMT5B):c.668_672del (p.Lys223fs) rs1590956245
NM_017635.5(KMT5B):c.725del (p.Leu242fs) rs1555028154
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017635.5(KMT5B):c.833A>T (p.Asn278Ile) rs2153052073
NM_017635.5(KMT5B):c.840+1_840+5del rs2153052061
NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter) rs1590954686
NM_017635.5(KMT5B):c.96dup (p.Gln33fs)
NM_018489.3(ASH1L):c.1013C>A (p.Ser338Ter) rs1665984696
NM_018489.3(ASH1L):c.1959del (p.Lys653fs)
NM_018489.3(ASH1L):c.2170G>T (p.Ala724Ser) rs1293246328
NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs) rs1558148010
NM_018489.3(ASH1L):c.3705del (p.Glu1236fs) rs1553265189
NM_018489.3(ASH1L):c.491del (p.Arg164fs)
NM_018489.3(ASH1L):c.5325C>A (p.Cys1775Ter)
NM_018489.3(ASH1L):c.5569_5585del (p.Pro1857fs)
NM_018489.3(ASH1L):c.6427G>T (p.Glu2143Ter) rs1553247374
NM_018489.3(ASH1L):c.6640C>T (p.Arg2214Ter)
NM_018489.3(ASH1L):c.6803_6804delinsTTCTCA (p.Cys2268fs) rs1553245038
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
NM_018489.3(ASH1L):c.7764_7768dup (p.Asp2590fs) rs1553242856
NM_018489.3(ASH1L):c.8356G>C (p.Ala2786Pro) rs1553241570
NM_018489.3(ASH1L):c.8854dup (p.Arg2952fs) rs775592405
NM_019842.4(KCNQ5):c.1021C>A (p.Leu341Ile) rs1135401956
NM_019842.4(KCNQ5):c.1106C>A (p.Pro369Gln) rs1135401958
NM_019842.4(KCNQ5):c.1106C>G (p.Pro369Arg) rs1135401958
NM_019842.4(KCNQ5):c.1286G>T (p.Ser429Ile) rs1135401957
NM_019842.4(KCNQ5):c.1985A>G (p.Asp662Gly)
NM_019842.4(KCNQ5):c.434T>G (p.Val145Gly) rs1135401955
NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys) rs1314919218
NM_019842.4(KCNQ5):c.824dup (p.Leu275fs) rs2150391860
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024665.7(TBL1XR1):c.1189del (p.Ile397fs) rs2108414289
NM_024665.7(TBL1XR1):c.209G>A (p.Gly70Asp) rs786205859
NM_024665.7(TBL1XR1):c.419dup (p.Ile141fs) rs2108496178
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
NM_024665.7(TBL1XR1):c.597_600del (p.Ser199fs) rs2108490822
NM_024665.7(TBL1XR1):c.697T>A (p.Trp233Arg)
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys) rs878854401
NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys) rs1577017863
NM_024665.7(TBL1XR1):c.845T>C (p.Leu282Pro) rs1716457622
NM_024665.7(TBL1XR1):c.874dup (p.Ile292fs) rs1553813646
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_057175.5(NAA15):c.1009_1012del (p.Glu337fs) rs1553996086
NM_057175.5(NAA15):c.1051del (p.Thr351fs) rs2110941246
NM_057175.5(NAA15):c.1165C>T (p.Gln389Ter)
NM_057175.5(NAA15):c.1418_1421dup (p.Ala475fs)
NM_057175.5(NAA15):c.1446dup (p.Gln483fs) rs1748100957
NM_057175.5(NAA15):c.1450T>C (p.Cys484Arg) rs2110956953
NM_057175.5(NAA15):c.1624_1627delinsAT (p.Leu542fs) rs2110959790
NM_057175.5(NAA15):c.163del (p.Thr55fs) rs1553994814
NM_057175.5(NAA15):c.1695T>A (p.Tyr565Ter) rs1553997065
NM_057175.5(NAA15):c.1720dup (p.Thr574fs) rs2110960030
NM_057175.5(NAA15):c.1754-2A>G rs1748397238
NM_057175.5(NAA15):c.1765del (p.Asp589fs)
NM_057175.5(NAA15):c.2086A>T (p.Lys696Ter) rs1553998565
NM_057175.5(NAA15):c.2320_2332del (p.Tyr774fs) rs2111009771
NM_057175.5(NAA15):c.2322C>G (p.Tyr774Ter) rs886041097
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_057175.5(NAA15):c.238_239insG (p.His80fs)
NM_057175.5(NAA15):c.2441T>C (p.Leu814Pro) rs2111013293
NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter)
NM_057175.5(NAA15):c.334G>A (p.Asp112Asn) rs889543097
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_057175.5(NAA15):c.908-2A>C
NM_057175.5(NAA15):c.908-2A>G rs2110935003
NM_057175.5(NAA15):c.913A>T (p.Lys305Ter) rs1553996072
NM_130797.4(DPP6):c.1153A>C (p.Met385Leu) rs786205143
NM_130797.4(DPP6):c.244-1G>A rs2151289543
NM_138459.5(NUS1):c.128_141del (p.Ala43fs)
NM_138459.5(NUS1):c.128_141dup (p.Val48fs) rs1554200722
NM_138459.5(NUS1):c.238_263del (p.Ala80fs) rs1582461267
NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)
NM_138459.5(NUS1):c.405C>G (p.Tyr135Ter)
NM_138459.5(NUS1):c.415+1G>A rs1772975334
NM_138459.5(NUS1):c.472G>T (p.Glu158Ter)
NM_138459.5(NUS1):c.48_49del (p.Cys17fs)
NM_138459.5(NUS1):c.734G>T (p.Gly245Val) rs1773460199
NM_138459.5(NUS1):c.743del (p.Asp248fs) rs1554202698
NM_138459.5(NUS1):c.752T>G (p.Leu251Ter) rs1773460504
NM_138459.5(NUS1):c.791+6T>G
NM_138459.5(NUS1):c.99G>A (p.Trp33Ter) rs2114674415
NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.1121-1G>A rs1943242602
NM_152641.4(ARID2):c.118dup (p.Val40fs) rs2137959683
NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs) rs2138132429
NM_152641.4(ARID2):c.1331-1G>C rs2138136386
NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)
NM_152641.4(ARID2):c.156_157del (p.Arg53fs) rs2137959875
NM_152641.4(ARID2):c.156del (p.Arg53fs) rs1555139310
NM_152641.4(ARID2):c.1580+1G>A rs2138150784
NM_152641.4(ARID2):c.1784_1785del (p.His595fs) rs1943504725
NM_152641.4(ARID2):c.2114del (p.Ser705fs) rs1592118927
NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter) rs2138162523
NM_152641.4(ARID2):c.2401_2402del (p.Met801fs) rs2138162739
NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter) rs1343039962
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_152641.4(ARID2):c.2536del (p.Val846fs) rs796052240
NM_152641.4(ARID2):c.2758C>T (p.Gln920Ter) rs1555155026
NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter)
NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs) rs2138170893
NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs) rs1555155252
NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter) rs2138174785
NM_152641.4(ARID2):c.400dup (p.Gln134fs) rs2138082983
NM_152641.4(ARID2):c.4210dup (p.Gln1404fs) rs2138177931
NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs) rs2138178306
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152641.4(ARID2):c.4441del (p.His1481fs) rs796052241
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) rs2138180455
NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs) rs1943579551
NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter) rs2138181920
NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter) rs1944306056
NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter) rs1592145571
NM_152641.4(ARID2):c.675G>A (p.Trp225Ter)
NM_152641.4(ARID2):c.869_881del (p.Ala290fs)
NM_205768.3(ZBTB18):c.1142_1146delinsAACCCT (p.Cys381_Pro382delinsTer)
NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter) rs1698428230
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs) rs2148557361
NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter) rs1085307109
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys) rs750922282
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg) rs2148557675
NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter) rs1135401770
NM_205768.3(ZBTB18):c.1444C>T (p.Arg482Cys) rs1553270634
NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter) rs398122406
NM_205768.3(ZBTB18):c.550del (p.Asp184fs) rs2148556437
NM_205768.3(ZBTB18):c.579G>A (p.Trp193Ter) rs2148556497
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
NM_205768.3(ZBTB18):c.599del (p.Asp199_Ser200insTer) rs1060499655
NM_205768.3(ZBTB18):c.691_692del (p.Leu231fs)
NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs) rs1698415634
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs) rs1085307108
NM_205768.3(ZBTB18):c.967_968insG (p.Leu323fs) rs1572531281

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