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_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)
|
rs72553879
|
0.00016
|
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter)
|
rs141472681
|
0.00006
|
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)
|
rs72553882
|
0.00006
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter)
|
rs185689791
|
0.00004
|
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)
|
rs144718007
|
0.00004
|
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)
|
rs72553885
|
0.00004
|
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)
|
rs751868289
|
0.00003
|
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter)
|
rs770266168
|
0.00003
|
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp)
|
rs150269540
|
0.00003
|
NM_021803.4(IL21):c.146T>C (p.Leu49Pro)
|
rs587777338
|
0.00003
|
NC_000014.9:g.105854405C>T
|
rs376256147
|
0.00002
|
NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter)
|
rs772481080
|
0.00002
|
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter)
|
rs201017642
|
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_012452.3(TNFRSF13B):c.62-1G>A
|
rs759649059
|
0.00002
|
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter)
|
rs1334688271
|
0.00001
|
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter)
|
rs1030733127
|
0.00001
|
NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter)
|
rs760342862
|
0.00001
|
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter)
|
rs1206185362
|
0.00001
|
NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter)
|
rs1268711491
|
0.00001
|
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter)
|
rs1004337827
|
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_012452.3(TNFRSF13B):c.298dup (p.Cys100fs)
|
rs72553878
|
0.00001
|
NM_012452.3(TNFRSF13B):c.497del (p.Thr166fs)
|
rs2087501902
|
0.00001
|
NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter)
|
rs1286642936
|
0.00001
|
NM_012452.3(TNFRSF13B):c.61+2T>A
|
rs760885614
|
0.00001
|
NM_012452.3(TNFRSF13B):c.62-2A>G
|
rs1286673507
|
0.00001
|
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter)
|
rs1554894837
|
0.00001
|
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)
|
rs74315491
|
0.00001
|
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter)
|
rs1230037871
|
0.00001
|
BTK, 1-BP DEL/3-BP INS, CODON 261
|
|
|
BTK, 26-BP INS, NT2019
|
|
|
GRCh37/hg19 4q31.3(chr4:151441408-151719830)
|
|
|
GRCh37/hg19 4q31.3(chr4:151622552-151657380)
|
|
|
IGHM, 75-KB DEL
|
|
|
NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del
|
|
|
NC_000002.11:g.(?_201943606)_(204824322_?)del
|
|
|
NC_000002.12:g.(?_203866796)_(203959619_?)del
|
|
|
NC_000004.10:g.152111739_152222852del
|
|
|
NC_000004.11:g.(?_151336570)_(151520303_?)del
|
|
|
NC_000004.11:g.(?_151504182)_(151656538_?)del
|
|
|
NC_000004.11:g.(?_151604683)_(151604889_?)del
|
|
|
NC_000004.11:g.(?_151814184)_(151814321_?)del
|
|
|
NC_000004.12:g.(?_150310209)_(150350179_?)del
|
|
|
NC_000004.12:g.(?_150415418)_(150817277_?)del
|
|
|
NC_000004.12:g.(?_150588028)_(150735386_?)del
|
|
|
NC_000004.12:g.(?_150683531)_(150761867_?)del
|
|
|
NC_000004.12:g.(?_150735238)_(150735386_?)del
|
|
|
NC_000004.12:g.(?_150761763)_(150761867_?)del
|
|
|
NC_000004.12:g.(?_150893032)_(150897838_?)del
|
|
|
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
|
|
|
NC_000010.11:g.(?_96271332)_(96271418_?)del
|
|
|
NC_000014.9:g.105854468A>C
|
rs267606871
|
|
NC_000014.9:g.105855107C>T
|
rs281865422
|
|
NC_000014.9:g.105855623_105855624del
|
|
|
NC_000014.9:g.105856087G>A
|
rs2142904392
|
|
NC_000017.10:g.(?_16875309)_(16875389_?)del
|
|
|
NC_000019.10:g.41878996_41879009del
|
|
|
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.1004T>A (p.Val335Asp)
|
rs1569292214
|
|
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)
|
rs28935478
|
|
NM_000061.3(BTK):c.1103-2A>G
|
rs1603005659
|
|
NM_000061.3(BTK):c.1116G>C (p.Arg372Ser)
|
rs1555978024
|
|
NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs)
|
rs2147429013
|
|
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)
|
rs1569292021
|
|
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)
|
rs782429199
|
|
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro)
|
rs128621198
|
|
NM_000061.3(BTK):c.1257del (p.Lys420fs)
|
rs2147428293
|
|
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)
|
rs2147448164
|
|
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.1349+1G>A
|
rs2147428155
|
|
NM_000061.3(BTK):c.141+3_141+4del
|
rs864321661
|
|
NM_000061.3(BTK):c.141+3_141+6del
|
rs1555980866
|
|
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)
|
rs193922124
|
|
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.1526T>C (p.Met509Thr)
|
rs1569291644
|
|
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.1567-2A>T
|
rs1555977598
|
|
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.161del (p.Gly54fs)
|
rs1555980799
|
|
NM_000061.3(BTK):c.1630_1631+3delinsGAAA
|
rs1555977580
|
|
NM_000061.3(BTK):c.1631+1G>T
|
rs1569291215
|
|
NM_000061.3(BTK):c.1632-2A>T
|
rs886039555
|
|
NM_000061.3(BTK):c.164dup (p.Ile56fs)
|
rs2147447605
|
|
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.1706T>C (p.Leu569Pro)
|
rs1555977461
|
|
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg)
|
rs128621205
|
|
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)
|
rs1603001805
|
|
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)
|
rs128621206
|
|
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)
|
rs1603019594
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)
|
rs1555977339
|
|
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)
|
rs2147424186
|
|
NM_000061.3(BTK):c.1784dup (p.Met596fs)
|
rs1603001771
|
|
NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)
|
rs2147424169
|
|
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)
|
rs128621208
|
|
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
|
|
|
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.1946del (p.Ser649fs)
|
rs1555976766
|
|
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro)
|
rs128622212
|
|
NM_000061.3(BTK):c.215dup (p.Asn72fs)
|
rs886041148
|
|
NM_000061.3(BTK):c.228_231del (p.Glu76fs)
|
rs864321660
|
|
NM_000061.3(BTK):c.271C>T (p.Gln91Ter)
|
|
|
NM_000061.3(BTK):c.280del (p.Ile94fs)
|
|
|
NM_000061.3(BTK):c.2T>C (p.Met1Thr)
|
rs128620186
|
|
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)
|
rs1927036604
|
|
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.371G>A (p.Trp124Ter)
|
rs1555980049
|
|
NM_000061.3(BTK):c.37C>T (p.Arg13Ter)
|
rs128620187
|
|
NM_000061.3(BTK):c.389del (p.Asn130fs)
|
rs864321664
|
|
NM_000061.3(BTK):c.435C>A (p.Cys145Ter)
|
rs1555978891
|
|
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)
|
rs128620188
|
|
NM_000061.3(BTK):c.472_475del (p.Thr158fs)
|
rs193922128
|
|
NM_000061.3(BTK):c.557dup (p.Pro187fs)
|
rs864321665
|
|
NM_000061.3(BTK):c.588+2T>C
|
|
|
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.655del (p.Val219fs)
|
rs1569292810
|
|
NM_000061.3(BTK):c.718G>T (p.Glu240Ter)
|
rs128621191
|
|
NM_000061.3(BTK):c.721dup (p.Tyr241fs)
|
rs1603008381
|
|
NM_000061.3(BTK):c.726dup (p.Ile243fs)
|
rs1569292774
|
|
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.829G>T (p.Glu277Ter)
|
rs868983143
|
|
NM_000061.3(BTK):c.839+1G>A
|
rs1569292649
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)
|
rs2147431031
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)
|
rs1555978277
|
|
NM_000061.3(BTK):c.894+191_1908+163del
|
|
|
NM_000061.3(BTK):c.895-2del
|
rs2147430256
|
|
NM_000061.3(BTK):c.919A>G (p.Arg307Gly)
|
rs128621195
|
|
NM_000061.3(BTK):c.953C>T (p.Ser318Phe)
|
rs1555978197
|
|
NM_000061.3(BTK):c.974+1del
|
rs2147430166
|
|
NM_000061.3(BTK):c.97A>C (p.Thr33Pro)
|
rs128620189
|
|
NM_000061.3(BTK):c.991dup (p.Ile331fs)
|
rs2147429948
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|
NM_000074.3(CD40LG):c.288+1G>A
|
rs1569376229
|
|
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr)
|
rs1590715754
|
|
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.1102C>T (p.Arg368Ter)
|
|
|
NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)
|
|
|
NM_001006658.3(CR2):c.1191del (p.Thr398fs)
|
rs1658223688
|
|
NM_001006658.3(CR2):c.1225+1G>C
|
rs398122864
|
|
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter)
|
|
|
NM_001006658.3(CR2):c.1458del (p.Phe486fs)
|
|
|
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)
|
|
|
NM_001006658.3(CR2):c.1646del (p.Gly549fs)
|
rs1658320297
|
|
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs)
|
rs1558192723
|
|
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs)
|
|
|
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter)
|
rs1331358695
|
|
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs)
|
rs1658357615
|
|
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter)
|
|
|
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)
|
|
|
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter)
|
rs398122863
|
|
NM_001006658.3(CR2):c.2423del (p.Asp808fs)
|
|
|
NM_001006658.3(CR2):c.243del (p.Lys81fs)
|
rs1572950925
|
|
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter)
|
rs766671758
|
|
NM_001006658.3(CR2):c.2864_2865del (p.His955fs)
|
rs2102308703
|
|
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)
|
|
|
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter)
|
rs369363360
|
|
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)
|
|
|
NM_001006658.3(CR2):c.40dup (p.Val14fs)
|
|
|
NM_001006658.3(CR2):c.412del (p.Trp138fs)
|
|
|
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter)
|
rs1572952530
|
|
NM_001006658.3(CR2):c.592_595del (p.Ser199fs)
|
rs868255776
|
|
NM_001006658.3(CR2):c.593dup (p.Leu198fs)
|
rs763336891
|
|
NM_001006658.3(CR2):c.623_624del (p.Pro208fs)
|
rs747832403
|
|
NM_001006658.3(CR2):c.624dup (p.Thr209fs)
|
rs747832403
|
|
NM_001006658.3(CR2):c.717del (p.Phe241fs)
|
rs1468427986
|
|
NM_001006658.3(CR2):c.721_722del (p.Phe241fs)
|
rs749636258
|
|
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.2602_2605dup (p.Gly869fs)
|
rs2135443636
|
|
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter)
|
rs2061279365
|
|
NM_001364905.1(LRBA):c.1661_1662insGATA (p.Tyr554Ter)
|
|
|
NM_001364905.1(LRBA):c.1697del (p.Lys566fs)
|
rs2127154885
|
|
NM_001364905.1(LRBA):c.1736G>A (p.Trp579Ter)
|
rs2127154743
|
|
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter)
|
rs199469664
|
|
NM_001364905.1(LRBA):c.1931dup (p.Arg645fs)
|
rs745453685
|
|
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
|
|
|
NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter)
|
rs199750191
|
|
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter)
|
rs727503780
|
|
NM_001364905.1(LRBA):c.205_206del (p.Val69fs)
|
rs1745202896
|
|
NM_001364905.1(LRBA):c.2204_2205dup (p.Arg736fs)
|
|
|
NM_001364905.1(LRBA):c.2240T>A (p.Leu747Ter)
|
|
|
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
|
|
|
NM_001364905.1(LRBA):c.2559_2560del (p.Ser853fs)
|
|
|
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter)
|
rs1560938296
|
|
NM_001364905.1(LRBA):c.2614del (p.Ser872fs)
|
rs2126988253
|
|
NM_001364905.1(LRBA):c.2625T>A (p.Tyr875Ter)
|
|
|
NM_001364905.1(LRBA):c.2717G>A (p.Trp906Ter)
|
|
|
NM_001364905.1(LRBA):c.2722_2738del (p.Gly908fs)
|
|
|
NM_001364905.1(LRBA):c.2736G>A (p.Trp912Ter)
|
|
|
NM_001364905.1(LRBA):c.2836_2839del (p.Glu945_Glu946insTer)
|
rs777413769
|
|
NM_001364905.1(LRBA):c.2963del (p.Asn988fs)
|
rs1750760771
|
|
NM_001364905.1(LRBA):c.3048T>G (p.Tyr1016Ter)
|
|
|
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
|
rs1578999313
|
|
NM_001364905.1(LRBA):c.3156del (p.Asp1053fs)
|
|
|
NM_001364905.1(LRBA):c.3286_3287del (p.Phe1096fs)
|
rs1750723817
|
|
NM_001364905.1(LRBA):c.345dup (p.Ala116fs)
|
|
|
NM_001364905.1(LRBA):c.3461_3464del (p.Leu1154fs)
|
|
|
NM_001364905.1(LRBA):c.3487_3488del (p.Val1162_Thr1163insTer)
|
rs1750701604
|
|
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter)
|
rs1560914625
|
|
NM_001364905.1(LRBA):c.3830C>G (p.Ser1277Ter)
|
rs1319094744
|
|
NM_001364905.1(LRBA):c.3989_3990dup (p.Gln1331fs)
|
|
|
NM_001364905.1(LRBA):c.4261A>G (p.Ser1421Gly)
|
rs2126905382
|
|
NM_001364905.1(LRBA):c.448+1G>T
|
rs1032290659
|
|
NM_001364905.1(LRBA):c.4750dup (p.Ser1584fs)
|
|
|
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)
|
rs1484948342
|
|
NM_001364905.1(LRBA):c.488del (p.Asn163fs)
|
rs2149508349
|
|
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer)
|
rs1554020278
|
|
NM_001364905.1(LRBA):c.5024del (p.Asn1675fs)
|
|
|
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter)
|
rs199469662
|
|
NM_001364905.1(LRBA):c.5060_5067del (p.Asn1687fs)
|
rs2126810852
|
|
NM_001364905.1(LRBA):c.5125_5152dup (p.Gln1718delinsArgTer)
|
rs2126810458
|
|
NM_001364905.1(LRBA):c.5231dup (p.Pro1745fs)
|
|
|
NM_001364905.1(LRBA):c.5254del (p.Val1752fs)
|
|
|
NM_001364905.1(LRBA):c.534del (p.Asp179fs)
|
rs2149508258
|
|
NM_001364905.1(LRBA):c.5586G>A (p.Trp1862Ter)
|
|
|
NM_001364905.1(LRBA):c.5903G>A (p.Trp1968Ter)
|
|
|
NM_001364905.1(LRBA):c.6234_6238delinsTTTT (p.Ser2079fs)
|
rs1772348297
|
|
NM_001364905.1(LRBA):c.6235del (p.Ser2079fs)
|
rs1051619342
|
|
NM_001364905.1(LRBA):c.6269_6270delinsAA (p.Ser2090Ter)
|
rs2126438478
|
|
NM_001364905.1(LRBA):c.6319del (p.Ile2107fs)
|
rs34237929
|
|
NM_001364905.1(LRBA):c.6551+1del
|
rs1320366310
|
|
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs)
|
rs727503779
|
|
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs)
|
rs1581401865
|
|
NM_001364905.1(LRBA):c.6909G>A (p.Trp2303Ter)
|
rs2151995373
|
|
NM_001364905.1(LRBA):c.6979C>T (p.Arg2327Ter)
|
|
|
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)
|
rs1581303476
|
|
NM_001364905.1(LRBA):c.7282C>T (p.Arg2428Ter)
|
|
|
NM_001364905.1(LRBA):c.7405C>T (p.Gln2469Ter)
|
|
|
NM_001364905.1(LRBA):c.7928del (p.Asn2643fs)
|
rs2126848251
|
|
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser)
|
rs199469663
|
|
NM_001364905.1(LRBA):c.8107_8110del (p.Ser2703fs)
|
|
|
NM_001364905.1(LRBA):c.8205dup (p.Gln2736fs)
|
|
|
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)
|
rs1580875488
|
|
NM_001364905.1(LRBA):c.893del (p.Lys298fs)
|
rs2149489346
|
|
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
|
|
|
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.198G>A (p.Trp66Ter)
|
rs1568801716
|
|
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.1423del (p.Ala475fs)
|
rs1578809101
|
|
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs)
|
rs1578811073
|
|
NM_003998.4(NFKB1):c.159+1G>A
|
rs1741461840
|
|
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.293T>A (p.Val98Asp)
|
rs1578771197
|
|
NM_003998.4(NFKB1):c.407+2T>G
|
rs2149168346
|
|
NM_003998.4(NFKB1):c.418_427del (p.Leu140fs)
|
rs1724867456
|
|
NM_003998.4(NFKB1):c.465dup (p.Ala156fs)
|
rs869320754
|
|
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter)
|
rs2149181831
|
|
NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter)
|
rs1724875502
|
|
NM_003998.4(NFKB1):c.730+4A>G
|
rs869320688
|
|
NM_003998.4(NFKB1):c.830dup (p.Lys278fs)
|
rs1578790573
|
|
NM_003998.4(NFKB1):c.835+2T>G
|
rs869320689
|
|
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met)
|
rs1578793298
|
|
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)
|
rs1578793312
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_004356.4(CD81):c.561+1G>A
|
rs587776775
|
|
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys)
|
rs28730670
|
|
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)
|
rs28730670
|
|
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg)
|
rs587777390
|
|
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn)
|
rs2100954909
|
|
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser)
|
rs2100954945
|
|
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)
|
rs587777389
|
|
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)
|
rs1557669079
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly)
|
rs1064795762
|
|
NM_006060.5(IKZF1):c.161-8388_589+2308del
|
|
|
NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser)
|
rs374333820
|
|
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.546C>A (p.Cys182Ter)
|
rs530073586
|
|
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln)
|
rs869312885
|
|
NM_006060.6(IKZF1):c.584A>G (p.His195Arg)
|
rs1131690788
|
|
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.17G>A (p.Trp6Ter)
|
|
|
NM_012092.4(ICOS):c.181del (p.Ile61fs)
|
rs1690066397
|
|
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter)
|
rs537195517
|
|
NM_012092.4(ICOS):c.291C>A (p.Tyr97Ter)
|
|
|
NM_012092.4(ICOS):c.294del (p.Leu99fs)
|
|
|
NM_012092.4(ICOS):c.318T>G (p.Tyr106Ter)
|
rs2105754294
|
|
NM_012092.4(ICOS):c.357del (p.Phe119fs)
|
|
|
NM_012092.4(ICOS):c.59-594_501+93del
|
|
|
NM_012092.4(ICOS):c.61G>T (p.Glu21Ter)
|
rs1015881666
|
|
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)
|
rs121908379
|
|
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs)
|
rs1265262160
|
|
NM_012452.3(TNFRSF13B):c.25C>T (p.Arg9Ter)
|
rs1383649750
|
|
NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)
|
|
|
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs)
|
rs1293048695
|
|
NM_012452.3(TNFRSF13B):c.355del (p.Arg119fs)
|
|
|
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter)
|
rs104894650
|
|
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter)
|
rs104894650
|
|
NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs)
|
rs1555550717
|
|
NM_012452.3(TNFRSF13B):c.61+1G>A
|
rs1016142312
|
|
NM_012452.3(TNFRSF13B):c.61+1G>T
|
rs1016142312
|
|
NM_012452.3(TNFRSF13B):c.61+2T>C
|
rs760885614
|
|
NM_012452.3(TNFRSF13B):c.91_92del (p.Met31fs)
|
|
|
NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs)
|
rs1303637368
|
|
NM_013314.3(BLNK):c.114delG
|
rs1554906579
|
|
NM_013314.4(BLNK):c.1031del (p.Lys344fs)
|
rs2133946382
|
|
NM_013314.4(BLNK):c.26del (p.Val9fs)
|
|
|
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_020458.4(TTC7A):c.1802+3G>C
|
rs1572961263
|
|
NM_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)
|
|
|
NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT
|
|
|
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
|
|
|
NM_181523.3(PIK3R1):c.1300-1G>C
|
rs1554051033
|
|
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
|
|
|
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
|
|
|
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
|
rs1289537429
|
|
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs)
|
rs1289537429
|
|
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
|
|
|
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)
|
rs1057519838
|
|
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.1650_1674del (p.Lys551fs)
|
|
|
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys)
|
rs773686816
|
|
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)
|
rs1561299903
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter)
|
rs1339790364
|
|
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)
|
rs397509384
|
|
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)
|
rs367669362
|
|
NM_181523.3(PIK3R1):c.965del (p.Met322fs)
|
rs1580260232
|
|
NM_182972.3(IRF2BP2):c.1652G>A (p.Ser551Asn)
|
rs1553319504
|
|
NM_182972.3(IRF2BP2):c.314_324dup (p.Ala110fs)
|
|
|
Single allele
|
|
|
TCF3, EX5-11 DEL
|
|
|