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
|
|