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_020661.4(AICDA):c.416T>C (p.Met139Thr)
|
rs200858797
|
0.00019
|
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_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_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
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_012452.3(TNFRSF13B):c.62-1G>A
|
rs759649059
|
0.00002
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_080911.3(UNG):c.685C>T (p.Arg229Ter)
|
rs772214871
|
0.00002
|
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp)
|
rs1477466218
|
0.00001
|
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_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_020661.4(AICDA):c.259T>C (p.Cys87Arg)
|
rs762590894
|
0.00001
|
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)
|
rs1057520542
|
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_139276.3(STAT3):c.833G>A (p.Arg278His)
|
rs2082128828
|
0.00001
|
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter)
|
rs1230037871
|
0.00001
|
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)
|
rs372598000
|
0.00001
|
NM_203447.4(DOCK8):c.1498C>T (p.Arg500Ter)
|
rs770748316
|
0.00001
|
NM_203447.4(DOCK8):c.2971-1G>A
|
rs777066716
|
0.00001
|
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs)
|
rs762990689
|
0.00001
|
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)
|
rs113432057
|
0.00001
|
NC_000002.11:g.(?_201943606)_(204824322_?)del
|
|
|
NC_000002.12:g.(?_203866796)_(203959619_?)del
|
|
|
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_000005.9:g.(?_147443360)_(147484583_?)del
|
|
|
NC_000005.9:g.(?_147443608)_(147451803_?)del
|
|
|
NC_000005.9:g.(?_147443608)_(147484583_?)del
|
|
|
NC_000005.9:g.(?_147470708)_(147470811_?)del
|
|
|
NC_000009.11:g.(?_214957)_(286656_?)del
|
|
|
NC_000009.11:g.(?_214977)_(215049_?)del
|
|
|
NC_000009.11:g.(?_214977)_(340341_?)del
|
|
|
NC_000009.11:g.(?_214977)_(368155_?)del
|
|
|
NC_000009.11:g.(?_214977)_(377231_?)del
|
|
|
NC_000009.11:g.(?_214977)_(399279_?)del
|
|
|
NC_000009.11:g.(?_214977)_(464219_?)del
|
|
|
NC_000009.11:g.(?_216117)_(399130_?)del
|
|
|
NC_000009.11:g.(?_271607)_(289601_?)del
|
|
|
NC_000009.11:g.(?_271607)_(328191_?)del
|
|
|
NC_000009.11:g.(?_271607)_(332498_?)del
|
|
|
NC_000009.11:g.(?_271607)_(334404_?)del
|
|
|
NC_000009.11:g.(?_271607)_(370320_?)del
|
|
|
NC_000009.11:g.(?_271607)_(382705_?)del
|
|
|
NC_000009.11:g.(?_271607)_(434995_?)del
|
|
|
NC_000009.11:g.(?_289490)_(399279_?)del
|
|
|
NC_000009.11:g.(?_304561)_(414971_?)del
|
|
|
NC_000009.11:g.(?_311934)_(317148_?)del
|
|
|
NC_000009.11:g.(?_322388)_(376266_?)del
|
|
|
NC_000009.11:g.(?_325651)_(332498_?)del
|
|
|
NC_000009.11:g.(?_325651)_(336738_?)del
|
|
|
NC_000009.11:g.(?_325651)_(386446_?)del
|
|
|
NC_000009.11:g.(?_334205)_(334404_?)del
|
|
|
NC_000009.11:g.(?_334205)_(452137_?)del
|
|
|
NC_000009.11:g.(?_367998)_(464219_?)del
|
|
|
NC_000009.11:g.(?_376190)_(377231_?)del
|
|
|
NC_000009.11:g.(?_386311)_(407089_?)del
|
|
|
NC_000009.11:g.(?_386311)_(422155_?)del
|
|
|
NC_000009.11:g.(?_390451)_(422155_?)del
|
|
|
NC_000009.11:g.(?_396765)_(407089_?)del
|
|
|
NC_000009.11:g.(?_399126)_(422155_?)del
|
|
|
NC_000009.11:g.(?_426865)_(427001_?)del
|
|
|
NC_000009.11:g.(?_426865)_(429874_?)del
|
|
|
NC_000009.12:g.(?_214957)_(215049_?)del
|
|
|
NC_000009.12:g.(?_214957)_(328191_?)del
|
|
|
NC_000009.12:g.(?_214957)_(422155_?)del
|
|
|
NC_000009.12:g.(?_214957)_(464239_?)del
|
|
|
NC_000009.12:g.(?_271607)_(340341_?)del
|
|
|
NC_000009.12:g.(?_271607)_(452137_?)del
|
|
|
NC_000009.12:g.(?_286441)_(464239_?)del
|
|
|
NC_000009.12:g.(?_304561)_(399279_?)del
|
|
|
NC_000009.12:g.(?_304561)_(464239_?)del
|
|
|
NC_000009.12:g.(?_332378)_(334404_?)del
|
|
|
NC_000009.12:g.(?_334205)_(340341_?)del
|
|
|
NC_000009.12:g.(?_336562)_(386446_?)del
|
|
|
NC_000009.12:g.(?_370210)_(452137_?)del
|
|
|
NC_000010.11:g.(?_96271332)_(96271418_?)del
|
|
|
NC_000012.12:g.(?_8456112)_(8612767_?)del
|
|
|
NC_000012.12:g.(?_8604264)_(8612787_?)del
|
|
|
NC_000017.10:g.(?_16875309)_(16875389_?)del
|
|
|
NC_000019.10:g.41878996_41879009del
|
|
|
NC_000023.10:g.(?_135067662)_(136652229_?)del
|
|
|
NC_000023.10:g.(?_135730388)_(135737600_?)del
|
|
|
NC_000023.11:g.(?_136648058)_(136654450_?)del
|
|
|
NC_000023.11:g.(?_136648058)_(136659435_?)del
|
|
|
NC_000023.11:g.(?_136654353)_(136654450_?)del
|
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
|
|
|
NM_000074.3(CD40LG):c.133del (p.Tyr45fs)
|
rs2076095044
|
|
NM_000074.3(CD40LG):c.138del (p.His47fs)
|
|
|
NM_000074.3(CD40LG):c.156+1G>A
|
|
|
NM_000074.3(CD40LG):c.156+2T>C
|
rs2148550585
|
|
NM_000074.3(CD40LG):c.158_161del
|
|
|
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter)
|
rs2148550523
|
|
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
|
|
|
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
|
|
|
NM_000074.3(CD40LG):c.289-1G>A
|
rs2148552379
|
|
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
|
|
|
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs)
|
rs1569376925
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs)
|
rs1569376930
|
|
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
|
|
|
NM_000074.3(CD40LG):c.346+1G>A
|
rs2148552407
|
|
NM_000074.3(CD40LG):c.346+1G>T
|
|
|
NM_000074.3(CD40LG):c.346+5G>A
|
rs2148552412
|
|
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)
|
rs104894778
|
|
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)
|
rs1603321148
|
|
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter)
|
rs1215852570
|
|
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
|
rs2076119100
|
|
NM_000074.3(CD40LG):c.401del (p.Thr134fs)
|
rs2076119189
|
|
NM_000074.3(CD40LG):c.409+1G>C
|
rs2148552941
|
|
NM_000074.3(CD40LG):c.409+2T>C
|
|
|
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
|
|
|
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
|
|
|
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
|
|
|
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
|
|
|
NM_000074.3(CD40LG):c.470del (p.Asn157fs)
|
rs2148553684
|
|
NM_000074.3(CD40LG):c.474del (p.Lys159fs)
|
rs2076126996
|
|
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter)
|
rs767889061
|
|
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
|
|
|
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
|
rs2076127075
|
|
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
|
|
|
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter)
|
rs1603321772
|
|
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)
|
rs2076127276
|
|
NM_000074.3(CD40LG):c.559del (p.Ala187fs)
|
rs1556143529
|
|
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
|
|
|
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter)
|
rs2148553738
|
|
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)
|
rs1085307733
|
|
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter)
|
rs1603321834
|
|
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter)
|
rs2076127875
|
|
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
|
|
|
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
|
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
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.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.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_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
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.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.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.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.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.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.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.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_001783.4(CD79A):c.198G>A (p.Trp66Ter)
|
rs1568801716
|
|
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)
|
rs28730670
|
|
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_006846.4(SPINK5):c.1732C>T (p.Arg578Ter)
|
rs201674667
|
|
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)
|
rs565782662
|
|
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
|
|
|
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.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_020661.4(AICDA):c.203G>A (p.Trp68Ter)
|
rs104894325
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
NM_020661.4(AICDA):c.415A>G (p.Met139Val)
|
rs104894322
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp)
|
rs104894324
|
|
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)
|
|
|
NM_080911.3(UNG):c.162del (p.Gln55fs)
|
|
|
NM_080911.3(UNG):c.250dup (p.Arg84fs)
|
|
|
NM_080911.3(UNG):c.366_369del (p.Arg122fs)
|
rs757311287
|
|
NM_080911.3(UNG):c.392del (p.Pro131fs)
|
|
|
NM_080911.3(UNG):c.39del (p.Ser14fs)
|
|
|
NM_080911.3(UNG):c.569_570del (p.Ile190fs)
|
rs772764942
|
|
NM_080911.3(UNG):c.730C>T (p.Gln244Ter)
|
rs751126274
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
NM_139276.3(STAT3):c.1110-2A>G
|
rs2144778323
|
|
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>C (p.Arg382Pro)
|
|
|
NM_139276.3(STAT3):c.1181T>C (p.Met394Thr)
|
|
|
NM_139276.3(STAT3):c.1228C>T (p.His410Tyr)
|
rs2081903545
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
NM_139276.3(STAT3):c.1311C>A (p.His437Gln)
|
rs1598399795
|
|
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del)
|
rs113994138
|
|
NM_139276.3(STAT3):c.1397A>C (p.Asn466Thr)
|
rs1057521091
|
|
NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser)
|
rs1567708034
|
|
NM_139276.3(STAT3):c.1865C>T (p.Thr622Ile)
|
|
|
NM_139276.3(STAT3):c.1907C>A (p.Ser636Tyr)
|
|
|
NM_139276.3(STAT3):c.1907C>T (p.Ser636Phe)
|
|
|
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)
|
rs113994139
|
|
NM_139276.3(STAT3):c.1915C>A (p.Pro639Thr)
|
|
|
NM_139276.3(STAT3):c.1915C>G (p.Pro639Ala)
|
rs2144683531
|
|
NM_139276.3(STAT3):c.1934T>A (p.Leu645Gln)
|
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)
|
rs1555563717
|
|
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)
|
rs886039434
|
|
NM_139276.3(STAT3):c.2116C>A (p.Leu706Met)
|
rs2144622987
|
|
NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro)
|
rs1131691476
|
|
NM_139276.3(STAT3):c.2137G>T (p.Val713Leu)
|
|
|
NM_139276.3(STAT3):c.2141C>T (p.Thr714Ile)
|
rs2081287195
|
|
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)
|
rs1064794957
|
|
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met)
|
rs869312892
|
|
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp)
|
rs869312890
|
|
NM_139276.3(STAT3):c.986T>A (p.Met329Lys)
|
rs1555566820
|
|
NM_139276.3(STAT3):c.994C>T (p.His332Tyr)
|
rs2144827923
|
|
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
|
|
|
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.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_203447.4(DOCK8):c.1125+1G>A
|
|
|
NM_203447.4(DOCK8):c.1134_1138del (p.Glu378fs)
|
|
|
NM_203447.4(DOCK8):c.1271_1274dup (p.Ser426fs)
|
rs2130879011
|
|
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg)
|
rs112321280
|
|
NM_203447.4(DOCK8):c.1470del (p.Tyr491fs)
|
|
|
NM_203447.4(DOCK8):c.1473del (p.Asp490_Tyr491insTer)
|
|
|
NM_203447.4(DOCK8):c.1497_1501del (p.Arg499fs)
|
|
|
NM_203447.4(DOCK8):c.1589_1614del (p.Val530fs)
|
|
|
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter)
|
rs1057518028
|
|
NM_203447.4(DOCK8):c.1878del (p.Tyr628fs)
|
|
|
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)
|
rs1287635563
|
|
NM_203447.4(DOCK8):c.2010dup (p.Leu671fs)
|
|
|
NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter)
|
rs372503899
|
|
NM_203447.4(DOCK8):c.27_28del (p.Ala11fs)
|
rs1312725371
|
|
NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter)
|
|
|
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs)
|
rs748134881
|
|
NM_203447.4(DOCK8):c.3340dup (p.Met1114fs)
|
|
|
NM_203447.4(DOCK8):c.3371_3377dup (p.Ile1127fs)
|
|
|
NM_203447.4(DOCK8):c.3500_3507dup (p.Ala1170fs)
|
rs112659914
|
|
NM_203447.4(DOCK8):c.3547del (p.Arg1183fs)
|
|
|
NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)
|
|
|
NM_203447.4(DOCK8):c.3803del (p.Phe1268fs)
|
rs2056112807
|
|
NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter)
|
|
|
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)
|
rs1476130680
|
|
NM_203447.4(DOCK8):c.4163del (p.Arg1388fs)
|
rs2131648737
|
|
NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter)
|
|
|
NM_203447.4(DOCK8):c.4235dup (p.Asp1413fs)
|
|
|
NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)
|
|
|
NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)
|
|
|
NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter)
|
rs754989398
|
|
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs)
|
rs886041815
|
|
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)
|
rs775544616
|
|
NM_203447.4(DOCK8):c.5481dup (p.Arg1828Ter)
|
rs2131814069
|
|
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs)
|
rs869312169
|
|
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)
|
|
|
NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter)
|
rs2131982095
|
|
NM_203447.4(DOCK8):c.760del (p.Arg254fs)
|
rs2130746906
|
|
NM_203447.4(DOCK8):c.851del (p.Leu284fs)
|
rs2130807292
|
|