NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00104
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro)
|
rs1381682599
|
0.00004
|
NM_021803.4(IL21):c.146T>C (p.Leu49Pro)
|
rs587777338
|
0.00003
|
NC_000014.9:g.105854405C>T
|
rs376256147
|
0.00002
|
NM_006979.3(SLC39A7):c.1114C>T (p.Gln372Ter)
|
rs201790479
|
0.00002
|
NM_006979.3(SLC39A7):c.568C>G (p.Pro190Ala)
|
rs563866464
|
0.00002
|
NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter)
|
rs746141726
|
0.00001
|
NM_006979.3(SLC39A7):c.1087G>A (p.Glu363Lys)
|
rs771311186
|
0.00001
|
NM_006979.3(SLC39A7):c.1184C>T (p.Thr395Ile)
|
rs1416107120
|
0.00001
|
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)
|
rs74315491
|
0.00001
|
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)
|
rs104894323
|
0.00001
|
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln)
|
rs113994137
|
0.00001
|
NM_203447.4(DOCK8):c.3494del (p.Thr1165fs)
|
rs113944762
|
0.00001
|
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs)
|
rs762990689
|
0.00001
|
BTK, 1-BP DEL/3-BP INS, CODON 261
|
|
|
BTK, 26-BP INS, NT2019
|
|
|
CD40LG, 10-BP DEL
|
|
|
CD40LG, THR211ASP
|
|
|
IGHM, 75-KB DEL
|
|
|
NC_000004.10:g.152111739_152222852del
|
|
|
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
|
|
|
NC_000009.12:g.139481_407477del
|
|
|
NC_000009.12:g.311735_398140del
|
|
|
NC_000009.12:g.364057_404510dup
|
|
|
NC_000014.9:g.105854468A>C
|
rs267606871
|
|
NC_000014.9:g.105855107C>T
|
rs281865422
|
|
NC_000014.9:g.105855623_105855624del
|
|
|
NC_000023.10:g.19667630_19886572del
|
|
|
NG_007280.1:g.5145_5146insAluAluYb8inv
|
|
|
NM_000061.3(BTK):c.-31+5G>A
|
rs1131691354
|
|
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser)
|
rs128621196
|
|
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)
|
rs28935478
|
|
NM_000061.3(BTK):c.1103-2A>G
|
rs1603005659
|
|
NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs)
|
rs2147429013
|
|
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro)
|
rs128621198
|
|
NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter)
|
rs128621199
|
|
NM_000061.3(BTK):c.1288A>G (p.Lys430Glu)
|
rs128620184
|
|
NM_000061.3(BTK):c.141+3_141+4del
|
rs864321661
|
|
NM_000061.3(BTK):c.1506C>A (p.Cys502Ter)
|
rs41310709
|
|
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg)
|
rs128621200
|
|
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)
|
rs128621201
|
|
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)
|
rs128621202
|
|
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)
|
rs128620183
|
|
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)
|
rs1555977592
|
|
NM_000061.3(BTK):c.1589del (p.Asn530fs)
|
rs2147425836
|
|
NM_000061.3(BTK):c.1631+1G>T
|
rs1569291215
|
|
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)
|
rs128621204
|
|
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)
|
rs104894770
|
|
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg)
|
rs128621205
|
|
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)
|
rs128621206
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)
|
rs128621208
|
|
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)
|
rs128621209
|
|
NM_000061.3(BTK):c.1889T>A (p.Met630Lys)
|
rs128621210
|
|
NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)
|
rs128622211
|
|
NM_000061.3(BTK):c.1908_1909insTTTTAG (p.Lys637delinsPheTer)
|
rs2147423959
|
|
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro)
|
rs128622212
|
|
NM_000061.3(BTK):c.228_231del (p.Glu76fs)
|
rs864321660
|
|
NM_000061.3(BTK):c.2T>C (p.Met1Thr)
|
rs128620186
|
|
NM_000061.3(BTK):c.310-1G>C
|
rs864321662
|
|
NM_000061.3(BTK):c.310-2A>G
|
rs864321663
|
|
NM_000061.3(BTK):c.338T>A (p.Val113Asp)
|
rs128621190
|
|
NM_000061.3(BTK):c.37C>T (p.Arg13Ter)
|
rs128620187
|
|
NM_000061.3(BTK):c.389del (p.Asn130fs)
|
rs864321664
|
|
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)
|
rs128620188
|
|
NM_000061.3(BTK):c.557dup (p.Pro187fs)
|
rs864321665
|
|
NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs)
|
rs1569293253
|
|
NM_000061.3(BTK):c.642_643del (p.Ser214fs)
|
rs1569292818
|
|
NM_000061.3(BTK):c.653del (p.Lys218fs)
|
rs1569292813
|
|
NM_000061.3(BTK):c.718G>T (p.Glu240Ter)
|
rs128621191
|
|
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)
|
rs128621192
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000061.3(BTK):c.839+1G>A
|
rs1569292649
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000061.3(BTK):c.894+191_1908+163del
|
|
|
NM_000061.3(BTK):c.919A>G (p.Arg307Gly)
|
rs128621195
|
|
NM_000061.3(BTK):c.974+1del
|
rs2147430166
|
|
NM_000061.3(BTK):c.97A>C (p.Thr33Pro)
|
rs128620189
|
|
NM_000074.2(CD40LG):c.[384T>A;386A>G]
|
|
|
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys)
|
rs104894774
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
NM_000074.3(CD40LG):c.189dup (p.Val64fs)
|
rs193922134
|
|
NM_000074.3(CD40LG):c.349_409+2del
|
rs2148552900
|
|
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)
|
rs104894778
|
|
NM_000074.3(CD40LG):c.412_419del
|
|
|
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly)
|
rs104894777
|
|
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter)
|
rs104894775
|
|
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro)
|
rs104894769
|
|
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val)
|
rs104894768
|
|
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro)
|
rs104894771
|
|
NM_000565.4(IL6R):c.548del (p.Gly183fs)
|
rs1689501445
|
|
NM_000565.4(IL6R):c.836T>A (p.Ile279Asn)
|
rs1689606931
|
|
NM_000626.4(CD79B):c.238C>T (p.Gln80Ter)
|
rs267606711
|
|
NM_000626.4(CD79B):c.409G>A (p.Gly137Ser)
|
rs121912424
|
|
NM_001006658.3(CR2):c.1225+1G>C
|
rs398122864
|
|
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter)
|
rs398122863
|
|
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs)
|
rs1565638431
|
|
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys)
|
rs879255271
|
|
NM_001250.6(CD40):c.247T>C (p.Cys83Arg)
|
rs28931586
|
|
NM_001250.6(CD40):c.257-2A>T
|
rs1568906348
|
|
NM_001250.6(CD40):c.408A>T (p.Thr136=)
|
rs2145595063
|
|
NM_001250.6(CD40):c.95TAA[1] (p.Ile33del)
|
rs1568905451
|
|
NM_001282933.2(ZNF341):c.1083del (p.Lys362fs)
|
rs1568945329
|
|
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter)
|
rs982121798
|
|
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter)
|
rs376598954
|
|
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter)
|
rs1568940507
|
|
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs)
|
rs727502786
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs)
|
rs397514331
|
|
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly)
|
rs727502787
|
|
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val)
|
rs727502788
|
|
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter)
|
rs2061279365
|
|
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter)
|
rs199469664
|
|
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter)
|
rs727503780
|
|
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter)
|
rs199469662
|
|
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs)
|
rs727503779
|
|
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser)
|
rs199469663
|
|
NM_001770.5(CD19):c.1653_*9delins23
|
|
|
NM_001770.6(CD19):c.1386_1387del (p.Asn463fs)
|
rs1393707607
|
|
NM_001770.6(CD19):c.1464del (p.Ser489fs)
|
rs886037921
|
|
NM_001770.6(CD19):c.156G>C (p.Trp52Cys)
|
rs886037920
|
|
NM_001770.6(CD19):c.947-1G>T
|
rs1567506566
|
|
NM_001770.6(CD19):c.971dup (p.Arg325fs)
|
rs2152230798
|
|
NM_001783.4(CD79A):c.379+1G>A
|
rs1555843601
|
|
NM_001783.4(CD79A):c.380-2A>G
|
rs1600631593
|
|
NM_002184.4(IL6ST):c.1210A>T (p.Asn404Tyr)
|
rs1580809257
|
|
NM_002184.4(IL6ST):c.1493C>T (p.Pro498Leu)
|
rs1580801731
|
|
NM_002184.4(IL6ST):c.1552+3A>C
|
rs1580801563
|
|
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer)
|
rs1750932254
|
|
NM_002184.4(IL6ST):c.2155dup (p.Ile719fs)
|
rs2111587824
|
|
NM_002184.4(IL6ST):c.2277T>G (p.Tyr759Ter)
|
rs2111585826
|
|
NM_002184.4(IL6ST):c.2277_2281dup (p.Thr761fs)
|
rs2111585708
|
|
NM_002184.4(IL6ST):c.560_571del (p.Ser187_Tyr190del)
|
rs2111774223
|
|
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter)
|
rs2142884393
|
|
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter)
|
rs2095916574
|
|
NM_003120.3(SPI1):c.632A>C (p.His211Pro)
|
rs2095906547
|
|
NM_003120.3(SPI1):c.693_694del (p.Leu232fs)
|
rs773877800
|
|
NM_003153.5(STAT6):c.1114G>A (p.Glu372Lys)
|
|
|
NM_003153.5(STAT6):c.1144G>C (p.Glu382Gln)
|
|
|
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)
|
|
|
NM_003153.5(STAT6):c.1255G>T (p.Asp419Tyr)
|
|
|
NM_003153.5(STAT6):c.1256A>G (p.Asp419Gly)
|
|
|
NM_003153.5(STAT6):c.1555G>C (p.Asp519His)
|
|
|
NM_003200.5(TCF3):c.808C>T (p.Gln270Ter)
|
rs2146131822
|
|
NM_003998.4(NFKB1):c.1012del (p.Ser338fs)
|
rs2149192665
|
|
NM_003998.4(NFKB1):c.139del (p.Ile47fs)
|
rs2149123423
|
|
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs)
|
rs1578811073
|
|
NM_003998.4(NFKB1):c.169C>T (p.Arg57Cys)
|
rs1040399901
|
|
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser)
|
rs1578771120
|
|
NM_003998.4(NFKB1):c.465dup (p.Ala156fs)
|
rs869320754
|
|
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter)
|
rs2149181831
|
|
NM_003998.4(NFKB1):c.730+4A>G
|
rs869320688
|
|
NM_003998.4(NFKB1):c.835+2T>G
|
rs869320689
|
|
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)
|
rs1578793312
|
|
NM_004356.4(CD81):c.561+1G>A
|
rs587776775
|
|
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys)
|
rs28730670
|
|
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg)
|
rs587777390
|
|
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)
|
rs587777389
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
NM_006060.5(IKZF1):c.161-8388_589+2308del
|
|
|
NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln)
|
rs770551610
|
|
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu)
|
rs770551610
|
|
NM_006060.6(IKZF1):c.500A>G (p.His167Arg)
|
rs869312884
|
|
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln)
|
rs869312885
|
|
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys)
|
rs869312883
|
|
NM_006846.4(SPINK5):c.1431-12G>A
|
rs368134354
|
|
NM_006846.4(SPINK5):c.1816_1820+21delinsCT
|
rs1561695740
|
|
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter)
|
rs121908387
|
|
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)
|
rs565782662
|
|
NM_006846.4(SPINK5):c.283-2A>T
|
rs587777749
|
|
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs)
|
rs1561680487
|
|
NM_006846.4(SPINK5):c.995del (p.Met332fs)
|
rs1561686960
|
|
NM_006979.3(SLC39A7):c.650T>C (p.Leu217Pro)
|
rs1170038377
|
|
NM_012092.4(ICOS):c.59-594_501+93del
|
|
|
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)
|
rs121908379
|
|
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter)
|
rs104894650
|
|
NM_013314.4(BLNK):c.47+3A>T
|
rs2134166251
|
|
NM_013336.4(SEC61A1):c.1141G>T (p.Glu381Ter)
|
|
|
NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp)
|
rs1553721236
|
|
NM_020070.4(IGLL1):c.258del (p.Gln88fs)
|
rs532338576
|
|
NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe)
|
rs387906329
|
|
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter)
|
rs104894325
|
|
NM_020661.4(AICDA):c.22_40del (p.Arg8fs)
|
rs387906328
|
|
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg)
|
rs104894320
|
|
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro)
|
rs104894321
|
|
NM_020661.4(AICDA):c.415A>G (p.Met139Val)
|
rs104894322
|
|
NM_020661.4(AICDA):c.452T>C (p.Phe151Ser)
|
rs104894327
|
|
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp)
|
rs104894324
|
|
NM_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)
|
|
|
NM_080911.3(UNG):c.392del (p.Pro131fs)
|
|
|
NM_080911.3(UNG):c.428_429del (p.Ile143fs)
|
|
|
NM_080911.3(UNG):c.572_573del (p.Glu191fs)
|
|
|
NM_080911.3(UNG):c.752T>C (p.Phe251Ser)
|
rs104894380
|
|
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)
|
rs113994135
|
|
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)
|
rs113994136
|
|
NM_139276.3(STAT3):c.1145G>T (p.Arg382Leu)
|
rs113994136
|
|
NM_139276.3(STAT3):c.1166C>T (p.Thr389Ile)
|
rs397514766
|
|
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del)
|
rs113994138
|
|
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)
|
rs113994139
|
|
NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT
|
|
|
NM_181523.3(PIK3R1):c.1300-1G>C
|
rs1554051033
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1425+1G>C
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1425+1G>T
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1425+2T>A
|
rs1554051075
|
|
NM_181523.3(PIK3R1):c.1425+2T>G
|
rs1554051075
|
|
NM_181523.3(PIK3R1):c.1425+2_1425+3del
|
rs1554051067
|
|
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)
|
rs397509384
|
|
NM_182972.3(IRF2BP2):c.1652G>A (p.Ser551Asn)
|
rs1553319504
|
|
NM_203447.3(DOCK8):c.1126-395_2971-2751del
|
|
|
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg)
|
rs112321280
|
|
NM_203447.4(DOCK8):c.2206-2A>G
|
|
|
NM_203447.4(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169fs)
|
rs886037645
|
|
NM_203447.4(DOCK8):c.5287C>T (p.Arg1763Ter)
|
|
|
NM_203447.4(DOCK8):c.5309_5310del (p.Leu1770fs)
|
|
|
TCF3, EX5-11 DEL
|
|
|