|
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_000065.5(C6):c.1879del (p.Asp627fs)
|
rs61469168
|
0.00328
|
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
|
NM_001012339.3(DNAJC21):c.1186-531G>A
|
rs112971776
|
0.00144
|
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_144687.4(NLRP12):c.857C>T (p.Pro286Leu)
|
rs201940393
|
0.00024
|
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
0.00023
|
|
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)
|
rs369359789
|
0.00022
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)
|
rs72553876
|
0.00021
|
|
NM_012452.3(TNFRSF13B):c.515G>A (p.Cys172Tyr)
|
rs751216929
|
0.00020
|
|
NR_023343.3(RNU4ATAC):n.37G>A
|
rs756026847
|
0.00013
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
|
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)
|
rs116040763
|
0.00011
|
|
NM_012452.3(TNFRSF13B):c.797C>T (p.Thr266Ile)
|
rs752825527
|
0.00011
|
|
NM_203447.4(DOCK8):c.3010C>T (p.Arg1004Trp)
|
rs369178263
|
0.00011
|
|
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)
|
rs139471471
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
|
NM_182925.5(FLT4):c.1093G>A (p.Glu365Lys)
|
rs369919880
|
0.00007
|
|
NM_000064.4(C3):c.193A>C (p.Lys65Gln)
|
rs539992721
|
0.00005
|
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
|
NM_000215.4(JAK3):c.2503A>T (p.Ser835Cys)
|
rs201966394
|
0.00004
|
|
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys)
|
rs375201229
|
0.00004
|
|
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)
|
rs193922641
|
0.00004
|
|
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)
|
rs762052950
|
0.00004
|
|
NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys)
|
rs375514495
|
0.00004
|
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
|
NM_012452.3(TNFRSF13B):c.122A>G (p.Asp41Gly)
|
rs763197017
|
0.00003
|
|
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys)
|
rs199474678
|
0.00002
|
|
NM_000565.4(IL6R):c.127G>A (p.Val43Met)
|
rs757025871
|
0.00002
|
|
NM_004629.2(FANCG):c.1077-2A>G
|
rs769547477
|
0.00002
|
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
|
NM_144687.4(NLRP12):c.2800T>C (p.Ser934Pro)
|
rs1379257772
|
0.00002
|
|
NM_000022.4(ADA):c.313C>T (p.His105Tyr)
|
rs201522960
|
0.00001
|
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
rs397507838
|
0.00001
|
|
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter)
|
rs148877937
|
0.00001
|
|
NM_000211.5(ITGB2):c.814G>A (p.Asp272Asn)
|
rs749335770
|
0.00001
|
|
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)
|
rs121434561
|
0.00001
|
|
NM_000431.4(MVK):c.709A>T (p.Thr237Ser)
|
rs104895366
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.1256A>G (p.Glu419Gly)
|
rs1454639907
|
0.00001
|
|
NM_001289125.3(IFNAR2):c.840+1G>T
|
rs746775306
|
0.00001
|
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
|
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_003177.7(SYK):c.688G>A (p.Glu230Lys)
|
rs200498885
|
0.00001
|
|
NM_003978.5(PSTPIP1):c.36+10610A>G
|
rs2075813588
|
0.00001
|
|
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)
|
rs1321926273
|
0.00001
|
|
NM_006767.4(LZTR1):c.-38T>A
|
rs1459786357
|
0.00001
|
|
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)
|
rs753295968
|
0.00001
|
|
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)
|
rs147303522
|
0.00001
|
|
NC_000009.12:g.(333421_334903)del
|
|
|
|
NC_000021.9:g.(33336874_33344911)del
|
|
|
|
NC_000022.11:g.18948676_21110520del
|
|
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
|
NM_000051.4(ATM):c.4695del (p.Pro1566fs)
|
rs1057517452
|
|
|
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)
|
|
|
|
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)
|
rs128621209
|
|
|
NM_000061.3(BTK):c.271C>T (p.Gln91Ter)
|
|
|
|
NM_000061.3(BTK):c.588+2T>C
|
|
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
|
NM_000064.4(C3):c.3489+2T>C
|
|
|
|
NM_000073.3:c.70_80del
|
|
|
|
NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter)
|
|
|
|
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
|
|
|
|
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
|
|
|
|
NM_000081.4(LYST):c.10610T>G (p.Leu3537Arg)
|
|
|
|
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
|
|
|
|
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
|
|
|
|
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
|
rs1304878514
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
|
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)
|
rs111033618
|
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
|
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)
|
rs121913507
|
|
|
NM_000234.3(LIG1):c.2326G>A (p.Gly776Arg)
|
|
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
|
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs)
|
rs2147266901
|
|
|
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
|
|
|
|
NM_000397.4(CYBB):c.47T>C (p.Leu16Pro)
|
rs2146803094
|
|
|
NM_000397.4(CYBB):c.66C>G (p.Asn22Lys)
|
|
|
|
NM_000431.4(MVK):c.533C>T (p.Thr178Ile)
|
|
|
|
NM_000431.4(MVK):c.62C>T (p.Ala21Val)
|
rs2136216750
|
|
|
NM_000431.4(MVK):c.79-2A>G
|
rs1884932883
|
|
|
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)
|
rs148508754
|
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
|
NM_000551.4(VHL):c.341-6C>G
|
rs191201783
|
|
|
NM_000628.5(IL10RB):c.787C>G (p.Pro263Ala)
|
|
|
|
NM_001006658.3(CR2):c.1015G>T (p.Ala339Ser)
|
|
|
|
NM_001006658.3(CR2):c.1103G>A (p.Arg368Gln)
|
|
|
|
NM_001006658.3(CR2):c.624dup (p.Thr209fs)
|
rs747832403
|
|
|
NM_001039396.2(MPEG1):c.1865T>C (p.Ile622Thr)
|
|
|
|
NM_001039396.2(MPEG1):c.746A>G (p.Asn249Ser)
|
|
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
|
NM_001167.4(XIAP):c.-32-5232_878-647del
|
|
|
|
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs)
|
rs2053561076
|
|
|
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)
|
rs1602544454
|
|
|
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)
|
rs878853277
|
|
|
NM_001183.6(ATP6AP1):c.971+10G>A
|
|
|
|
NM_001184900.3(CARD8):c.853G>T (p.Glu285Ter)
|
rs2146193028
|
|
|
NM_001199138.2(NLRC4):c.1554T>C (p.Leu518=)
|
|
|
|
NM_001199138.2(NLRC4):c.805C>T (p.His269Tyr)
|
|
|
|
NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)
|
|
|
|
NM_001322934.2(NFKB2):c.2531T>C (p.Val844Ala)
|
rs1450204584
|
|
|
NM_001322934.2(NFKB2):c.2598T>C (p.Ser866=)
|
|
|
|
NM_001322934.2(NFKB2):c.453A>G (p.Ile151Met)
|
rs2135430396
|
|
|
NM_001364905.1(LRBA):c.2259-2A>G
|
rs2127004616
|
|
|
NM_001364905.1(LRBA):c.4158+1G>C
|
|
|
|
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
|
|
|
|
NM_001364905.1(LRBA):c.8468+10del
|
rs1454498033
|
|
|
NM_001370466.1(NOD2):c.-8-2532G>T
|
|
|
|
NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)
|
|
|
|
NM_001382567.1(STIM1):c.1596G>T (p.Gln532His)
|
rs1425652473
|
|
|
NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)
|
|
|
|
NM_001972.4(ELANE):c.731_732del (p.Ser244fs)
|
|
|
|
NM_002184.4(IL6ST):c.76G>A (p.Asp26Asn)
|
|
|
|
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser)
|
rs1759661333
|
|
|
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)
|
rs1595822583
|
|
|
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
|
rs121913250
|
|
|
NM_002661.5(PLCG2):c.105G>A (p.Lys35=)
|
rs1910957870
|
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
|
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)
|
rs397516830
|
|
|
NM_003331.5(TYK2):c.2657C>A (p.Ala886Glu)
|
rs764682808
|
|
|
NM_003467.3(CXCR4):c.175G>A (p.Val59Ile)
|
|
|
|
NM_003721.4(RFXANK):c.481del (p.Leu161fs)
|
rs2146492780
|
|
|
NM_003764.4(STX11):c.429G>T (p.Met143Ile)
|
|
|
|
NM_003978.5(PSTPIP1):c.1226C>T (p.Pro409Leu)
|
|
|
|
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
|
|
|
|
NM_003998.4(NFKB1):c.2745A>G (p.Gln915=)
|
rs2149232815
|
|
|
NM_003998.4(NFKB1):c.407+1G>A
|
rs1723945421
|
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
|
NM_004706.4(ARHGEF1):c.130A>G (p.Ser44Gly)
|
|
|
|
NM_004706.4(ARHGEF1):c.424G>A (p.Val142Met)
|
|
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
|
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
|
|
|
|
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)
|
rs1553657429
|
|
|
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val)
|
rs754771000
|
|
|
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)
|
rs763401560
|
|
|
NM_005431.2(XRCC2):c.756_758del (p.Gln252_Phe253delinsHis)
|
|
|
|
NM_005488.3(TOM1):c.1265A>T (p.Gln422Leu)
|
|
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
|
NM_005739.4(RASGRP1):c.1418_1428+3del
|
|
|
|
NM_006060.6(IKZF1):c.369G>A (p.Gly123=)
|
rs2153470067
|
|
|
NM_006060.6(IKZF1):c.548G>A (p.Arg183His)
|
rs1812172495
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
|
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)
|
rs751308379
|
|
|
NM_006767.4(LZTR1):c.27del (p.Gln10fs)
|
rs587777613
|
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
|
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
|
rs924297783
|
|
|
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del)
|
rs1057517536
|
|
|
NM_007315.4(STAT1):c.1894G>C (p.Glu632Gln)
|
|
|
|
NM_007315.4(STAT1):c.501A>C (p.Gln167His)
|
|
|
|
NM_007315.4(STAT1):c.800C>T (p.Ala267Val)
|
rs387906759
|
|
|
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs)
|
rs2144267361
|
|
|
NM_012448.4(STAT5B):c.90G>A (p.Val30=)
|
rs2144296728
|
|
|
NM_012481.5(IKZF3):c.470A>G (p.Gln157Arg)
|
|
|
|
NM_012481.5(IKZF3):c.982C>T (p.Pro328Ser)
|
|
|
|
NM_014009.4(FOXP3):c.716T>C (p.Val239Ala)
|
|
|
|
NM_014339.7(IL17RA):c.582G>A (p.Thr194=)
|
rs774719700
|
|
|
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg)
|
rs1566591073
|
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
|
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)
|
rs2136433359
|
|
|
NM_020937.4(FANCM):c.1261G>A (p.Ala421Thr)
|
|
|
|
NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg)
|
|
|
|
NM_021035.3(ZNFX1):c.2003-121C>T
|
|
|
|
NM_021035.3(ZNFX1):c.3557A>G (p.Lys1186Arg)
|
|
|
|
NM_021813.4(BACH2):c.1134G>C (p.Gln378His)
|
|
|
|
NM_021813.4(BACH2):c.801G>T (p.Lys267Asn)
|
|
|
|
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro)
|
rs1392840230
|
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
|
NM_032415.7(CARD11):c.2704-8T>A
|
|
|
|
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu)
|
rs373107728
|
|
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NM_032638.5(GATA2):c.1205A>G (p.Asn402Ser)
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rs375927513
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NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
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rs777034646
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NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)
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rs1416519719
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NM_052872.4(IL17F):c.305G>A (p.Cys102Tyr)
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NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)
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rs2148850717
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NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
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NM_139276.3(STAT3):c.2131A>G (p.Ile711Val)
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rs1131691937
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NM_139276.3(STAT3):c.2258-2A>G
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NM_144687.4(NLRP12):c.2735C>T (p.Thr912Met)
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NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)
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rs1202502842
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NM_152866.3(MS4A1):c.-279-10del
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|
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NM_181078.3(IL21R):c.800T>C (p.Ile267Thr)
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rs1303388360
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NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)
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|
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NM_182972.3(IRF2BP2):c.1727C>T (p.Ala576Val)
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NM_182972.3(IRF2BP2):c.289C>G (p.Gln97Glu)
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rs1672270147
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NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
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rs772226399
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NM_206937.2(LIG4):c.1973T>C (p.Ile658Thr)
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Single allele
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