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_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_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
|
BTK, 1-BP DEL/3-BP INS, CODON 261
|
|
|
BTK, 26-BP INS, NT2019
|
|
|
IGHM, 75-KB DEL
|
|
|
NC_000004.10:g.152111739_152222852del
|
|
|
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
|
|
|
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
|
|
|
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_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_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_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_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_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_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)
|
|
|
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
|
|
TCF3, EX5-11 DEL
|
|
|