ClinVar Miner

List of variants studied for Autoinflammatory syndrome

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ClinVar version:
Total variants: 1480
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.*230G>C rs10754558 0.63911
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_001370466.1(NOD2):c.*1156G>A rs3135500 0.44678
NM_002351.4(SH2D1A):c.-346C>T rs12164382 0.43694
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) rs11652075 0.39960
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_199242.3(UNC13D):c.117+59C>T rs3744010 0.31218
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_173842.3(IL1RN):c.171T>C (p.Ala57=) rs419598 0.21244
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_198282.4(STING1):c.878G>A (p.Arg293Gln) rs7380824 0.20123
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_173842.3(IL1RN):c.205+242C>T rs2071459 0.17798
NM_001167.4(XIAP):c.*4078C>A rs28382751 0.17448
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_198282.4(STING1):c.212G>A (p.Arg71His) rs11554776 0.12831
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12521
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001375808.2(LPIN2):c.*501T>C rs35176958 0.05856
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_001366385.1(CARD14):c.2885G>A (p.Arg962Gln) rs34850974 0.04584
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_003764.4(STX11):c.829A>G (p.Thr277Ala) rs9496891 0.03773
NM_001243133.2(NLRP3):c.-40G>T rs73136263 0.03689
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_001366385.1(CARD14):c.1170C>T (p.Phe390=) rs74951924 0.03377
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_003982.4(SLC7A7):c.456C>T (p.Phe152=) rs8016634 0.03113
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001972.4(ELANE):c.390C>T (p.Asn130=) rs17223045 0.02903
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_173842.3(IL1RN):c.*162C>T rs4252041 0.02647
NM_199242.3(UNC13D):c.1744C>T (p.Leu582=) rs75853379 0.02622
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_001199138.2(NLRC4):c.1542A>G (p.Gln514=) rs35653927 0.02569
NM_001242.5(CD27):c.269-9T>C rs11830902 0.02521
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_001366385.1(CARD14):c.1264G>A (p.Glu422Lys) rs61751629 0.02212
NM_144687.4(NLRP12):c.1347C>G (p.Ala449=) rs111234757 0.02160
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_199242.2(UNC13D):c.-260C>T rs113482537 0.01892
NM_005546.4(ITK):c.769-10A>T rs55646940 0.01845
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
NM_173842.3(IL1RN):c.459C>T (p.Asp153=) rs4252023 0.01650
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_001366385.1(CARD14):c.2853G>A (p.Glu951=) rs78569961 0.01590
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_001083116.3(PRF1):c.462A>G (p.Ala154=) rs116554195 0.01461
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01447
NM_001375808.2(LPIN2):c.*99C>T rs143728428 0.01403
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_173842.3(IL1RN):c.116+5G>A rs4252004 0.01392
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_199242.3(UNC13D):c.3252T>C (p.His1084=) rs61753922 0.01313
NM_001083116.3(PRF1):c.726C>T (p.Cys242=) rs35329429 0.01263
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_144687.4(NLRP12):c.609C>T (p.Asp203=) rs34854934 0.01168
NM_001083116.3(PRF1):c.435G>A (p.Val145=) rs115281140 0.01164
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_001366385.1(CARD14):c.1789C>T (p.Arg597Trp) rs73429414 0.01118
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077 0.01097
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_001370466.1(NOD2):c.2288G>A (p.Arg763Gln) rs5743279 0.01035
NM_001370466.1(NOD2):c.1372C>T (p.Leu458=) rs5743274 0.01031
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_003982.4(SLC7A7):c.*272C>T rs143575981 0.01026
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_001366385.1(CARD14):c.2267G>A (p.Cys756Tyr) rs34822755 0.01019
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_001366385.1(CARD14):c.1517C>T (p.Pro506Leu) rs61751630 0.00959
NM_003982.4(SLC7A7):c.96G>A (p.Lys32=) rs45479698 0.00958
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001242.5(CD27):c.30C>T (p.Cys10=) rs34540052 0.00937
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502 0.00917
NM_001199138.2(NLRC4):c.-48A>G rs115661114 0.00915
NM_001366385.1(CARD14):c.*7G>A rs114706038 0.00912
NM_001199138.2(NLRC4):c.1870T>A (p.Trp624Arg) rs61741169 0.00909
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_001083116.3(PRF1):c.702G>A (p.Ser234=) rs138508223 0.00843
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001366385.1(CARD14):c.*46T>C rs75486216 0.00820
NM_144687.4(NLRP12):c.969T>G (p.Leu323=) rs142063194 0.00814
NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg) rs35401786 0.00803
NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser) rs61754192 0.00800
NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn) rs34330210 0.00799
NM_001366385.1(CARD14):c.2193G>A (p.Ala731=) rs35692270 0.00788
NM_198282.4(STING1):c.937G>A (p.Ala313Thr) rs140837017 0.00779
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_148919.4(PSMB8):c.222C>A (p.Thr74=) rs116638337 0.00770
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498 0.00767
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_144687.4(NLRP12):c.2755C>T (p.Arg919Trp) rs61741349 0.00716
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_144687.4(NLRP12):c.2754G>C (p.Leu918=) rs61741347 0.00692
NM_001366385.1(CARD14):c.2409G>A (p.Thr803=) rs115102551 0.00689
NM_012275.3(IL36RN):c.369G>C (p.Thr123=) rs28938778 0.00682
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00638
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_001375808.2(LPIN2):c.*358G>A rs184193388 0.00608
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_001366385.1(CARD14):c.2772C>T (p.His924=) rs146356100 0.00593
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637 0.00574
NM_001366385.1(CARD14):c.2763C>T (p.Ile921=) rs150378107 0.00572
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_001282225.2(ADA2):c.511C>T (p.Arg171Trp) rs115986203 0.00508
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001366385.1(CARD14):c.2496C>T (p.Leu832=) rs139789664 0.00506
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_005546.4(ITK):c.1398G>T (p.Val466=) rs17595896 0.00505
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_001282225.2(ADA2):c.660C>T (p.Tyr220=) rs2231487 0.00500
NM_001366385.1(CARD14):c.2829C>T (p.Gly943=) rs200640336 0.00496
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038 0.00495
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_001366385.1(CARD14):c.1476C>T (p.Phe492=) rs144710573 0.00483
NM_000081.4(LYST):c.-5C>T rs141317482 0.00475
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001366385.1(CARD14):c.709A>C (p.Asn237His) rs114218658 0.00457
NM_000431.3(MVK):c.-178A>G rs67606936 0.00444
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln) rs115582620 0.00439
NM_173842.3(IL1RN):c.465C>T (p.Pro155=) rs2232355 0.00435
NM_001366385.1(CARD14):c.2822G>A (p.Arg941Gln) rs74000616 0.00421
NM_198282.4(STING1):c.659G>A (p.Arg220His) rs144010323 0.00418
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_001366385.1(CARD14):c.1662C>T (p.Gly554=) rs149971215 0.00397
NM_005546.4(ITK):c.578G>A (p.Arg193Gln) rs17054374 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_001083116.3(PRF1):c.444C>T (p.Ala148=) rs61737403 0.00389
NM_001370466.1(NOD2):c.974A>G (p.His325Arg) rs5743272 0.00389
NM_001366385.1(CARD14):c.2859G>A (p.Ala953=) rs139969019 0.00386
NM_148919.4(PSMB8):c.483G>A (p.Gln161=) rs41270492 0.00378
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_198282.4(STING1):c.376C>A (p.Leu126Ile) rs142609349 0.00363
NM_198282.4(STING1):c.580G>T (p.Val194Leu) rs114834699 0.00363
NM_001370466.1(NOD2):c.735C>T (p.Ser245=) rs35090774 0.00360
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala) rs35413645 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser) rs28938777 0.00348
NM_003978.5(PSTPIP1):c.*38T>C rs201535027 0.00346
NM_001366385.1(CARD14):c.1917C>T (p.Ala639=) rs79407194 0.00344
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_001065.4(TNFRSF1A):c.-96C>T rs115164694 0.00312
NM_144687.4(NLRP12):c.960G>A (p.Thr320=) rs77625808 0.00311
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile) rs143223086 0.00302
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_001083116.3(PRF1):c.403G>A (p.Val135Met) rs12263572 0.00293
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 0.00287
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917 0.00278
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_001366385.1(CARD14):c.2648G>A (p.Arg883His) rs2289541 0.00267
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_001366385.1(CARD14):c.378G>A (p.Glu126=) rs138552007 0.00247
NM_001375808.2(LPIN2):c.120T>C (p.Asp40=) rs143261167 0.00243
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_001366385.1(CARD14):c.1065C>T (p.Cys355=) rs140246774 0.00228
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_148919.4(PSMB8):c.501C>T (p.Leu167=) rs11540143 0.00224
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_012275.3(IL36RN):c.6C>T (p.Val2=) rs28938771 0.00221
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=) rs148632046 0.00195
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met) rs150174842 0.00195
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_001366385.1(CARD14):c.1806G>A (p.Ser602=) rs113127952 0.00193
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419 0.00191
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_144687.4(NLRP12):c.1352G>A (p.Arg451His) rs76085152 0.00188
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_001366385.1(CARD14):c.2569+4T>C rs146678380 0.00181
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_148919.4(PSMB8):c.732C>T (p.Gly244=) rs78909544 0.00175
NM_148919.4(PSMB8):c.192C>T (p.Asn64=) rs79482999 0.00173
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_001366385.1(CARD14):c.526G>C (p.Asp176His) rs144475004 0.00168
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_198282.4(STING1):c.762G>A (p.Ala254=) rs11554777 0.00153
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_183235.3(RAB27A):c.-93G>T rs181491869 0.00151
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu) rs34577313 0.00146
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=) rs140769141 0.00142
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001083116.3(PRF1):c.873C>T (p.Ser291=) rs149008090 0.00139
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_144687.4(NLRP12):c.3004G>A (p.Asp1002Asn) rs144746100 0.00131
NM_001366385.1(CARD14):c.796C>T (p.Arg266Cys) rs138616955 0.00128
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_012275.3(IL36RN):c.169G>A (p.Val57Ile) rs77864207 0.00124
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=) rs34716166 0.00120
NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly) rs147896952 0.00118
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510 0.00113
NM_005546.4(ITK):c.1276C>T (p.Leu426=) rs145991142 0.00109
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639 0.00104
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr) rs45507693 0.00097
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_001242.5(CD27):c.539-6T>C rs202127301 0.00086
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_198282.4(STING1):c.33G>A (p.Pro11=) rs149842998 0.00080
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) rs113631419 0.00077
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu) rs149390911 0.00076
NM_000081.4(LYST):c.7229+3A>G rs529306869 0.00074
NM_001199138.2(NLRC4):c.1248G>A (p.Val416=) rs377140938 0.00074
NM_148919.4(PSMB8):c.*8G>A rs376750959 0.00074
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_173842.3(IL1RN):c.237T>C (p.His79=) rs140088036 0.00073
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_012275.3(IL36RN):c.363G>A (p.Leu121=) rs151274071 0.00070
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=) rs201290189 0.00069
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln) rs200109035 0.00067
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_001366385.1(CARD14):c.960G>A (p.Glu320=) rs144207494 0.00065
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=) rs141043192 0.00057
NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=) rs147980356 0.00056
NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys) rs200790561 0.00056
NM_001370466.1(NOD2):c.-8-2174C>T rs149122717 0.00056
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr) rs143579306 0.00055
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00055
NM_001065.4(TNFRSF1A):c.769-3C>T rs199743143 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001282225.2(ADA2):c.1386T>C (p.Ile462=) rs373797039 0.00051
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001370466.1(NOD2):c.486G>A (p.Thr162=) rs144887729 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001366385.1(CARD14):c.1134C>G (p.Ser378Arg) rs150536049 0.00049
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr) rs140609636 0.00048
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_001083116.3(PRF1):c.286C>A (p.Arg96=) rs144024245 0.00045
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) rs139852370 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp) rs34482255 0.00045
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys) rs141660796 0.00043
NM_001370466.1(NOD2):c.1464G>T (p.Leu488=) rs553575063 0.00042
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp) rs61738625 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met) rs148683734 0.00041
NM_001370466.1(NOD2):c.258C>T (p.Asp86=) rs138889062 0.00041
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_005546.4(ITK):c.1455C>T (p.Ala485=) rs201568204 0.00041
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser) rs200813801 0.00041
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln) rs373954247 0.00040
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_198282.4(STING1):c.760-9C>A rs200232916 0.00039
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=) rs144469697 0.00038
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_198282.4(STING1):c.760-1_760del rs746371007 0.00038
NM_198282.4(STING1):c.760-3dup rs770249736 0.00038
NM_198282.4(STING1):c.762_764del (p.Gly255del) rs781602496 0.00038
NM_198282.4(STING1):c.766A>T (p.Thr256Ser) rs773415324 0.00038
NM_001972.4(ELANE):c.654C>T (p.Phe218=) rs148492780 0.00037
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330 0.00037
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001366385.1(CARD14):c.1659C>T (p.Ser553=) rs139274935 0.00036
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_001366385.1(CARD14):c.1385C>T (p.Thr462Met) rs368239982 0.00035
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) rs151150961 0.00035
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=) rs145777568 0.00035
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_003764.4(STX11):c.589G>A (p.Val197Met) rs141499372 0.00033
NM_173842.3(IL1RN):c.*119C>T rs377302236 0.00033
NM_000081.4(LYST):c.4863-4G>A rs201382097 0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00032
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_198282.4(STING1):c.784G>A (p.Ala262Thr) rs140038439 0.00032
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 0.00031
NM_001366385.1(CARD14):c.*6C>T rs200373502 0.00031
NM_001366385.1(CARD14):c.1356+4C>T rs373428751 0.00031
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu) rs201285077 0.00031
NM_001366385.1(CARD14):c.1829G>A (p.Arg610His) rs372001018 0.00031
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001282225.2(ADA2):c.689G>A (p.Arg230Gln) rs186116639 0.00029
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=) rs201407516 0.00029
NM_148919.4(PSMB8):c.*6G>C rs371747700 0.00029
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_001972.4(ELANE):c.16C>A (p.Arg6=) rs182347433 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_001366385.1(CARD14):c.16C>T (p.Arg6Cys) rs559363898 0.00027
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) rs199517469 0.00027
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_144687.4(NLRP12):c.291T>C (p.Asp97=) rs201046901 0.00027
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met) rs150280940 0.00027
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr) rs200029309 0.00026
NM_001366385.1(CARD14):c.2403C>T (p.Ser801=) rs189286068 0.00026
NM_001366385.1(CARD14):c.27C>T (p.Ser9=) rs9895931 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=) rs150312425 0.00026
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001366385.1(CARD14):c.2190C>T (p.Ala730=) rs146968151 0.00025
NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp) rs768891477 0.00025
NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys) rs112478200 0.00025
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro) rs373929015 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe) rs201638660 0.00025
NM_198282.4(STING1):c.289G>A (p.Ala97Thr) rs181566154 0.00025
NM_001370466.1(NOD2):c.-8-2185C>T rs144993105 0.00024
NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val) rs2076754 0.00024
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=) rs374055726 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_144687.4(NLRP12):c.857C>T (p.Pro286Leu) rs201940393 0.00024
NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=) rs146516795 0.00023
NM_001366385.1(CARD14):c.1852-8G>A rs544120287 0.00023
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00023
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg) rs141830680 0.00023
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met) rs147021864 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_003978.5(PSTPIP1):c.628C>T (p.Arg210Trp) rs200998074 0.00022
NM_144687.4(NLRP12):c.2258G>A (p.Arg753His) rs148745997 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000081.4(LYST):c.997C>T (p.His333Tyr) rs140821981 0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) rs149493236 0.00021
NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn) rs143747620 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153 0.00021
NM_001370466.1(NOD2):c.1245C>T (p.Phe415=) rs151315883 0.00021
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala) rs151337641 0.00019
NM_001199138.2(NLRC4):c.1380G>A (p.Thr460=) rs151186164 0.00019
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=) rs758432190 0.00019
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val) rs180177493 0.00019
NM_001366385.1(CARD14):c.1415G>A (p.Arg472His) rs377226624 0.00019
NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile) rs372586928 0.00019
NM_001366385.1(CARD14):c.2807+10C>T rs368700533 0.00019
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=) rs199475914 0.00019
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln) rs11568423 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys) rs201241894 0.00019
NM_198282.4(STING1):c.575G>T (p.Gly192Val) rs201096097 0.00019
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu) rs541737648 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) rs148334665 0.00018
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp) rs139467141 0.00018
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_003664.5(AP3B1):c.402C>T (p.Ser134=) rs144761256 0.00018
NM_198282.4(STING1):c.758G>A (p.Arg253Gln) rs148833313 0.00018
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_001282225.2(ADA2):c.46C>T (p.Leu16=) rs367610393 0.00017
NM_001370466.1(NOD2):c.2381+7G>T rs202111813 0.00017
NM_198282.4(STING1):c.340G>A (p.Gly114Ser) rs189211438 0.00017
NM_198282.4(STING1):c.61G>A (p.Ala21Thr) rs140011636 0.00017
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val) rs144242324 0.00016
NM_001083116.3(PRF1):c.1357G>A (p.Val453Met) rs141864315 0.00016
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu) rs140149634 0.00016
NM_001366385.1(CARD14):c.1199G>A (p.Arg400His) rs147466598 0.00016
NM_001366385.1(CARD14):c.1728G>A (p.Gly576=) rs375480599 0.00016
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val) rs756684008 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_144687.4(NLRP12):c.2212A>C (p.Arg738=) rs199966186 0.00016
NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val) rs146786265 0.00016
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_001083116.3(PRF1):c.866C>T (p.Thr289Met) rs150628656 0.00015
NM_006949.4(STXBP2):c.561G>A (p.Pro187=) rs535372251 0.00015
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) rs371969268 0.00015
NM_000243.3(MEFV):c.1502G>A (p.Arg501His) rs104895196 0.00014
NM_001242.5(CD27):c.713G>A (p.Arg238Lys) rs75524088 0.00014
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) rs116020027 0.00014
NM_001366385.1(CARD14):c.1091C>T (p.Ala364Val) rs141698692 0.00014
NM_001370466.1(NOD2):c.1275C>T (p.Ile425=) rs186719861 0.00014
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) rs140876663 0.00014
NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn) rs61755272 0.00014
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) rs148561632 0.00014
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478 0.00014
NM_001972.4(ELANE):c.174C>T (p.Thr58=) rs199714513 0.00014
NM_001972.4(ELANE):c.428G>A (p.Arg143His) rs200993994 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993 0.00014
NM_199242.3(UNC13D):c.261+8C>T rs573508258 0.00014
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001243133.2(NLRP3):c.606G>A (p.Lys202=) rs146606931 0.00013
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299 0.00013
NM_001282225.2(ADA2):c.147G>A (p.Arg49=) rs146125672 0.00013
NM_001366385.1(CARD14):c.683T>G (p.Leu228Arg) rs142246283 0.00013
NM_001366385.1(CARD14):c.881C>T (p.Ala294Val) rs139466192 0.00013
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040 0.00013
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter) rs142487599 0.00013
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_000081.4(LYST):c.716G>A (p.Ser239Asn) rs534142793 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys) rs777303823 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_000243.3(MEFV):c.1458C>T (p.Asp486=) rs147767925 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620 0.00011
NM_001065.4(TNFRSF1A):c.1058-6C>G rs761155688 0.00011
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln) rs45497794 0.00011
NM_001366385.1(CARD14):c.35C>T (p.Thr12Met) rs569889639 0.00011
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val) rs377554134 0.00011
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=) rs373520277 0.00011
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu) rs147203309 0.00011
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) rs201421847 0.00011
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=) rs369835681 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_005546.4(ITK):c.1792-4C>T rs201859710 0.00011
NM_012275.3(IL36RN):c.451T>A (p.Phe151Ile) rs545202535 0.00011
NM_144687.4(NLRP12):c.154G>A (p.Gly52Ser) rs369053968 0.00011
NM_144687.4(NLRP12):c.536C>T (p.Thr179Ile) rs145156267 0.00011
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=) rs564875531 0.00011
NM_000081.4(LYST):c.5374A>G (p.Asn1792Asp) rs143696500 0.00010
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) rs104895265 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001282225.2(ADA2):c.104C>T (p.Ala35Val) rs151283756 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys) rs751727290 0.00010
NM_001370466.1(NOD2):c.233C>T (p.Ala78Val) rs202052365 0.00010
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=) rs371358114 0.00010
NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro) rs370229918 0.00010
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln) rs144287432 0.00010
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=) rs371924071 0.00010
NM_000081.4(LYST):c.9327T>A (p.Asp3109Glu) rs1413246726 0.00009
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr) rs770324989 0.00009
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=) rs200312496 0.00009
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) rs200378519 0.00009
NM_001282225.2(ADA2):c.687C>T (p.Phe229=) rs2231488 0.00009
NM_001370466.1(NOD2):c.-7T>C rs371044393 0.00009
NM_001370466.1(NOD2):c.2979G>A (p.Gly993=) rs374689495 0.00009
NM_001972.4(ELANE):c.366+9G>A rs200948740 0.00009
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.429A>T (p.Thr143=) rs1141040 0.00009
NM_003978.5(PSTPIP1):c.517-4T>C rs571529866 0.00009
NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr) rs541085532 0.00009
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724 0.00009
NM_012275.3(IL36RN):c.244-6C>T rs374849220 0.00009
NM_012275.3(IL36RN):c.308G>A (p.Arg103Gln) rs542606182 0.00009
NM_144687.4(NLRP12):c.2165G>A (p.Arg722Gln) rs199475868 0.00009
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753 0.00009
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser) rs201284258 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_001282225.2(ADA2):c.754-5C>T rs530979152 0.00008
NM_001366385.1(CARD14):c.1012A>G (p.Met338Val) rs200132496 0.00008
NM_001366385.1(CARD14):c.1653G>A (p.Ser551=) rs369746581 0.00008
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
NM_001370466.1(NOD2):c.402C>T (p.Phe134=) rs565504727 0.00008
NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn) rs748314396 0.00008
NM_144687.4(NLRP12):c.2147T>C (p.Ile716Thr) rs201439784 0.00008
NM_144687.4(NLRP12):c.2440G>A (p.Gly814Arg) rs149903344 0.00008
NM_144687.4(NLRP12):c.2854G>A (p.Asp952Asn) rs140792345 0.00008
NM_183235.3(RAB27A):c.-3A>C rs553316776 0.00008
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000243.3(MEFV):c.663G>C (p.Pro221=) rs104895162 0.00007
NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met) rs201753543 0.00007
NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser) rs143043887 0.00007
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr) rs780229500 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=) rs201976178 0.00007
NM_001243133.2(NLRP3):c.2940C>T (p.Gly980=) rs199649583 0.00007
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001370466.1(NOD2):c.1875G>A (p.Ser625=) rs141355588 0.00007
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val) rs369498554 0.00007
NM_005546.4(ITK):c.139-6C>T rs780173849 0.00007
NM_005546.4(ITK):c.768+3A>G rs374214545 0.00007
NM_012275.3(IL36RN):c.230C>T (p.Thr77Ile) rs372880215 0.00007
NM_012275.3(IL36RN):c.244-5G>A rs754661425 0.00007
NM_012275.3(IL36RN):c.307C>T (p.Arg103Trp) rs375207169 0.00007
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln) rs764672057 0.00007
NM_173841.2(IL1RN):c.-95C>G rs1458187927 0.00007
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr) rs559869925 0.00006
NM_000081.4(LYST):c.5919G>A (p.Leu1973=) rs748908539 0.00006
NM_000243.3(MEFV):c.1759+7C>T rs772667365 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_001065.4(TNFRSF1A):c.672T>C (p.Leu224=) rs202150552 0.00006
NM_001065.4(TNFRSF1A):c.784A>G (p.Thr262Ala) rs200728879 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu) rs764987185 0.00006
NM_001199138.2(NLRC4):c.480T>C (p.Ala160=) rs372559110 0.00006
NM_001243133.2(NLRP3):c.1323C>T (p.Tyr441=) rs200269703 0.00006
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr) rs189403607 0.00006
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001366385.1(CARD14):c.1082G>A (p.Arg361Gln) rs763738345 0.00006
NM_001366385.1(CARD14):c.1356+5G>A rs376524884 0.00006
NM_001366385.1(CARD14):c.1850T>C (p.Met617Thr) rs145521869 0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459 0.00006
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp) rs104895453 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_001972.4(ELANE):c.597+10C>G rs201460728 0.00006
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu) rs144182857 0.00006
NM_144687.4(NLRP12):c.1599C>T (p.Gly533=) rs758678359 0.00006
NM_144687.4(NLRP12):c.2383C>T (p.Arg795Trp) rs762384329 0.00006
NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys) rs139165669 0.00006
NM_144687.4(NLRP12):c.2966A>C (p.Asn989Thr) rs151187420 0.00006
NM_144687.4(NLRP12):c.3042T>C (p.Gly1014=) rs764841108 0.00006
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp) rs754578419 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723 0.00006
NM_198282.4(STING1):c.284G>A (p.Arg95His) rs1033930953 0.00006
NM_198282.4(STING1):c.761C>T (p.Ala254Val) rs774690247 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=) rs367988204 0.00006
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met) rs761013333 0.00006
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=) rs200014965 0.00006
NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu) rs370741117 0.00006
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) rs104895288 0.00005
NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=) rs748510736 0.00005
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=) rs147154764 0.00005
NM_001366385.1(CARD14):c.646G>A (p.Ala216Thr) rs574982768 0.00005
NM_001366385.1(CARD14):c.828G>A (p.Ser276=) rs150424747 0.00005
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp) rs62029861 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947 0.00005
NM_006949.4(STXBP2):c.759G>A (p.Ala253=) rs145260482 0.00005
NM_144687.4(NLRP12):c.752A>G (p.Asn251Ser) rs200679354 0.00005
NM_198282.4(STING1):c.971C>T (p.Ser324Leu) rs772018436 0.00005
NM_000081.4(LYST):c.11354G>A (p.Arg3785His) rs370173269 0.00004
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala) rs559751044 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000081.4(LYST):c.7690G>A (p.Ala2564Thr) rs759733310 0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) rs749651486 0.00004
NM_000243.3(MEFV):c.150G>A (p.Pro50=) rs376952748 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000431.4(MVK):c.1039+7C>T rs370291700 0.00004
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_001199138.2(NLRC4):c.2687T>A (p.Leu896Gln) rs760231283 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
NM_001282225.2(ADA2):c.272A>G (p.His91Arg) rs149466386 0.00004
NM_001282225.2(ADA2):c.435G>C (p.Gln145His) rs752626692 0.00004
NM_001366385.1(CARD14):c.203T>C (p.Met68Thr) rs773633754 0.00004
NM_001366385.1(CARD14):c.2735C>G (p.Thr912Ser) rs201965466 0.00004
NM_001366385.1(CARD14):c.433C>A (p.Gln145Lys) rs781101097 0.00004
NM_001366385.1(CARD14):c.45C>T (p.Asp15=) rs768959428 0.00004
NM_001366385.1(CARD14):c.544C>T (p.Arg182Cys) rs372403419 0.00004
NM_001366385.1(CARD14):c.694G>A (p.Glu232Lys) rs200837077 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His) rs775728252 0.00004
NM_001370466.1(NOD2):c.1931T>G (p.Leu644Arg) rs754325924 0.00004
NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu) rs374116563 0.00004
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln) rs139104022 0.00004
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter) rs760623178 0.00004
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr) rs1282634444 0.00004
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1282G>A (p.Gly428Ser) rs768189312 0.00004
NM_001375808.2(LPIN2):c.1435G>A (p.Glu479Lys) rs571085377 0.00004
NM_001972.4(ELANE):c.568G>A (p.Val190Met) rs367663236 0.00004
NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser) rs370404621 0.00004
NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=) rs368685017 0.00004
NM_005546.4(ITK):c.33C>A (p.Leu11=) rs765948222 0.00004
NM_005546.4(ITK):c.559C>T (p.Pro187Ser) rs1156578676 0.00004
NM_144687.4(NLRP12):c.1316T>A (p.Leu439Gln) rs373446463 0.00004
NM_144687.4(NLRP12):c.14C>A (p.Ala5Glu) rs761545315 0.00004
NM_144687.4(NLRP12):c.153C>T (p.Ala51=) rs757210851 0.00004
NM_144687.4(NLRP12):c.2015C>T (p.Ala672Val) rs376751517 0.00004
NM_144687.4(NLRP12):c.2572C>A (p.Leu858Ile) rs766678083 0.00004
NM_144687.4(NLRP12):c.2622C>T (p.Asp874=) rs368897676 0.00004
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) rs774341327 0.00004
NM_173842.3(IL1RN):c.495C>T (p.Gly165=) rs368843442 0.00004
NM_199242.3(UNC13D):c.118-9G>C rs527842266 0.00004
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00004
NM_000081.4(LYST):c.10965G>C (p.Ala3655=) rs762254542 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.4632C>T (p.Ser1544=) rs373930104 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.85G>A (p.Ala29Thr) rs755173231 0.00003
NM_000243.3(MEFV):c.1779T>A (p.Ala593=) rs377657099 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.99G>A (p.Val33=) rs767848974 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000431.4(MVK):c.999C>T (p.Gly333=) rs147904100 0.00003
NM_001065.4(TNFRSF1A):c.339G>A (p.Glu113=) rs587780965 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn) rs779399414 0.00003
NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser) rs779390608 0.00003
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=) rs201644343 0.00003
NM_001243133.2(NLRP3):c.2584G>C (p.Glu862Gln) rs202149902 0.00003
NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser) rs766768505 0.00003
NM_001366385.1(CARD14):c.1098C>T (p.Ser366=) rs749480979 0.00003
NM_001366385.1(CARD14):c.1188C>G (p.Val396=) rs147432650 0.00003
NM_001366385.1(CARD14):c.1428C>T (p.Pro476=) rs368432283 0.00003
NM_001366385.1(CARD14):c.1460G>A (p.Arg487Gln) rs531888447 0.00003
NM_001366385.1(CARD14):c.1468G>A (p.Glu490Lys) rs372805579 0.00003
NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile) rs148788573 0.00003
NM_001366385.1(CARD14):c.2159G>A (p.Arg720His) rs202094920 0.00003
NM_001366385.1(CARD14):c.2775C>T (p.Val925=) rs372790630 0.00003
NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile) rs908626604 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro) rs759456303 0.00003
NM_001370466.1(NOD2):c.840G>A (p.Thr280=) rs376601025 0.00003
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=) rs543890845 0.00003
NM_001375808.2(LPIN2):c.553G>A (p.Val185Met) rs148620026 0.00003
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln) rs755088297 0.00003
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln) rs202234596 0.00003
NM_003978.5(PSTPIP1):c.537G>A (p.Gln179=) rs927470089 0.00003
NM_005546.4(ITK):c.287G>C (p.Arg96Pro) rs751865122 0.00003
NM_006949.4(STXBP2):c.1453-10C>T rs368488488 0.00003
NM_012275.3(IL36RN):c.115+5G>A rs772037773 0.00003
NM_144687.4(NLRP12):c.-2C>G rs142898715 0.00003
NM_144687.4(NLRP12):c.1996T>C (p.Tyr666His) rs766112183 0.00003
NM_144687.4(NLRP12):c.2052G>A (p.Ala684=) rs755768331 0.00003
NM_144687.4(NLRP12):c.311C>G (p.Ser104Cys) rs369508681 0.00003
NM_144687.4(NLRP12):c.858C>T (p.Pro286=) rs145171629 0.00003
NM_148919.4(PSMB8):c.537+8C>T rs767292865 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00003
NM_183235.3(RAB27A):c.453C>T (p.Leu151=) rs753732362 0.00003
NM_199242.3(UNC13D):c.*3G>A rs531729868 0.00003
NM_199242.3(UNC13D):c.2258G>T (p.Gly753Val) rs1418183549 0.00003
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=) rs545430645 0.00003
NM_000081.4(LYST):c.6181G>A (p.Gly2061Arg) rs745789615 0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys) rs762605919 0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000243.3(MEFV):c.238C>T (p.Arg80Cys) rs766608226 0.00002
NM_000243.3(MEFV):c.840G>A (p.Arg280=) rs748624682 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) rs751713601 0.00002
NM_000431.4(MVK):c.747C>T (p.Gly249=) rs144788669 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=) rs751915363 0.00002
NM_001199138.2(NLRC4):c.1225G>A (p.Glu409Lys) rs144123569 0.00002
NM_001199138.2(NLRC4):c.129C>T (p.Cys43=) rs200374202 0.00002
NM_001199138.2(NLRC4):c.249C>T (p.Asp83=) rs117094017 0.00002
NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys) rs748341490 0.00002
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg) rs552117780 0.00002
NM_001199138.2(NLRC4):c.565G>A (p.Gly189Arg) rs771648968 0.00002
NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr) rs200612957 0.00002
NM_001199138.2(NLRC4):c.808C>T (p.Arg270Cys) rs374448922 0.00002
NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=) rs201035625 0.00002
NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys) rs201678213 0.00002
NM_001243133.2(NLRP3):c.2241T>C (p.Ser747=) rs199535084 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn) rs201260331 0.00002
NM_001243133.2(NLRP3):c.397+6C>T rs201165941 0.00002
NM_001243133.2(NLRP3):c.865G>A (p.Val289Met) rs145092553 0.00002
NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser) rs747107966 0.00002
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_001282225.2(ADA2):c.460C>T (p.Arg154Cys) rs200153182 0.00002
NM_001366385.1(CARD14):c.198C>T (p.Ser66=) rs1254076623 0.00002
NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) rs548495951 0.00002
NM_001366385.1(CARD14):c.288C>T (p.Asn96=) rs753859758 0.00002
NM_001366385.1(CARD14):c.366C>T (p.Ser122=) rs201505693 0.00002
NM_001366385.1(CARD14):c.823C>T (p.Arg275Cys) rs752302933 0.00002
NM_001370466.1(NOD2):c.2802-2A>G rs564226539 0.00002
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) rs773074044 0.00002
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys) rs201325845 0.00002
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=) rs183435741 0.00002
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=) rs574476271 0.00002
NM_003978.5(PSTPIP1):c.1062G>A (p.Gln354=) rs757597315 0.00002
NM_003978.5(PSTPIP1):c.516+3G>A rs764658426 0.00002
NM_003978.5(PSTPIP1):c.549G>A (p.Ser183=) rs554161203 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464 0.00002
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=) rs750823506 0.00002
NM_005546.4(ITK):c.244-8G>A rs199759038 0.00002
NM_006949.4(STXBP2):c.303G>A (p.Ala101=) rs766198135 0.00002
NM_012275.3(IL36RN):c.29G>A (p.Arg10Gln) rs752880718 0.00002
NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu) rs569411184 0.00002
NM_144687.4(NLRP12):c.2414+5G>A rs775788855 0.00002
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu) rs139956424 0.00002
NM_144687.4(NLRP12):c.632G>A (p.Arg211His) rs374108426 0.00002
NM_144687.4(NLRP12):c.78G>A (p.Lys26=) rs148263031 0.00002
NM_148919.4(PSMB8):c.434G>A (p.Arg145His) rs1222974201 0.00002
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) rs746897143 0.00002
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_198282.4(STING1):c.1049C>T (p.Ala350Val) rs143322684 0.00002
NM_198282.4(STING1):c.928C>T (p.Arg310Cys) rs763335050 0.00002
NM_199242.3(UNC13D):c.261+9G>A rs754902598 0.00002
NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His) rs374478310 0.00002
NM_000081.4(LYST):c.10622A>G (p.Tyr3541Cys) rs1369698547 0.00001
NM_000081.4(LYST):c.1848C>T (p.Asn616=) rs376259384 0.00001
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.4135A>G (p.Ile1379Val) rs1178179147 0.00001
NM_000081.4(LYST):c.4266C>A (p.Ala1422=) rs764207947 0.00001
NM_000081.4(LYST):c.5784+2C>T rs763156837 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000081.4(LYST):c.6931C>T (p.Leu2311=) rs764843145 0.00001
NM_000081.4(LYST):c.9223G>A (p.Val3075Ile) rs764879928 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) rs758868622 0.00001
NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter) rs768066753 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.2318G>A (p.Cys773Tyr) rs1430125672 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro) rs1959084389 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.726C>T (p.Ser242=) rs104895127 0.00001
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys) rs1437746739 0.00001
NM_000431.4(MVK):c.118C>T (p.Arg40Trp) rs1055952433 0.00001
NM_000431.4(MVK):c.210G>T (p.Leu70=) rs199811011 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.873C>A (p.Tyr291Ter) rs1566150887 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_001065.4(TNFRSF1A):c.1008C>A (p.Asn336Lys) rs745458338 0.00001
NM_001065.4(TNFRSF1A):c.1226G>T (p.Arg409Leu) rs561674960 0.00001
NM_001065.4(TNFRSF1A):c.1238G>A (p.Arg413Gln) rs1310241012 0.00001
NM_001065.4(TNFRSF1A):c.12C>T (p.Ser4=) rs199780452 0.00001
NM_001065.4(TNFRSF1A):c.1307A>G (p.Asp436Gly) rs1243645113 0.00001
NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met) rs104895278 0.00001
NM_001065.4(TNFRSF1A):c.384G>A (p.Arg128=) rs747164054 0.00001
NM_001065.4(TNFRSF1A):c.51G>A (p.Glu17=) rs201015273 0.00001
NM_001083116.3(PRF1):c.1001G>A (p.Gly334Asp) rs780544163 0.00001
NM_001083116.3(PRF1):c.111C>T (p.Phe37=) rs547321451 0.00001
NM_001083116.3(PRF1):c.1226C>T (p.Pro409Leu) rs1278094424 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.248G>A (p.Gly83Asp) rs769928225 0.00001
NM_001083116.3(PRF1):c.374T>C (p.Ile125Thr) rs763389567 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001167.4(XIAP):c.*10A>G rs536914095 0.00001
NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met) rs1206027883 0.00001
NM_001199138.2(NLRC4):c.2668T>C (p.Cys890Arg) rs544969923 0.00001
NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile) rs745846903 0.00001
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=) rs1573494931 0.00001
NM_001199138.2(NLRC4):c.597C>T (p.Phe199=) rs542279142 0.00001
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr) rs770505969 0.00001
NM_001199138.2(NLRC4):c.763C>T (p.Pro255Ser) rs1440627760 0.00001
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=) rs746822837 0.00001
NM_001243133.2(NLRP3):c.240C>T (p.Asp80=) rs200214031 0.00001
NM_001243133.2(NLRP3):c.2492+8G>A rs201453934 0.00001
NM_001243133.2(NLRP3):c.2902A>G (p.Ser968Gly) rs1408232607 0.00001
NM_001243133.2(NLRP3):c.508C>T (p.Arg170Cys) rs747885829 0.00001
NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe) rs770294045 0.00001
NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu) rs1168801973 0.00001
NM_001282225.2(ADA2):c.1240-6G>A rs781688965 0.00001
NM_001282225.2(ADA2):c.387C>T (p.Thr129=) rs1258338183 0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu) rs199567025 0.00001
NM_001366385.1(CARD14):c.1270T>C (p.Cys424Arg) rs567958673 0.00001
NM_001366385.1(CARD14):c.1414C>T (p.Arg472Cys) rs145876317 0.00001
NM_001366385.1(CARD14):c.1558G>A (p.Asp520Asn) rs760471922 0.00001
NM_001366385.1(CARD14):c.1602G>A (p.Pro534=) rs1414906812 0.00001
NM_001366385.1(CARD14):c.1799C>T (p.Pro600Leu) rs746260783 0.00001
NM_001366385.1(CARD14):c.2019G>A (p.Ala673=) rs1024202736 0.00001
NM_001366385.1(CARD14):c.2025G>A (p.Ser675=) rs778055809 0.00001
NM_001366385.1(CARD14):c.2196C>T (p.His732=) rs758642695 0.00001
NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) rs538251591 0.00001
NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg) rs193262780 0.00001
NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) rs950950885 0.00001
NM_001366385.1(CARD14):c.2535G>A (p.Leu845=) rs1193362044 0.00001
NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile) rs865872056 0.00001
NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro) rs754405150 0.00001
NM_001366385.1(CARD14):c.2985G>A (p.Lys995=) rs534581445 0.00001
NM_001366385.1(CARD14):c.312C>T (p.Thr104=) rs768362011 0.00001
NM_001366385.1(CARD14):c.326A>T (p.Asp109Val) rs1014252436 0.00001
NM_001366385.1(CARD14):c.348C>T (p.Ser116=) rs775819149 0.00001
NM_001366385.1(CARD14):c.350-4A>G rs748808582 0.00001
NM_001366385.1(CARD14):c.502G>A (p.Glu168Lys) rs752479739 0.00001
NM_001366385.1(CARD14):c.570G>A (p.Glu190=) rs955758766 0.00001
NM_001366385.1(CARD14):c.758C>T (p.Thr253Ile) rs780324929 0.00001
NM_001366385.1(CARD14):c.883C>T (p.Arg295Trp) rs1431548778 0.00001
NM_001366385.1(CARD14):c.90C>T (p.Ile30=) rs549347508 0.00001
NM_001366385.1(CARD14):c.922C>T (p.Leu308=) rs537507973 0.00001
NM_001366385.1(CARD14):c.963+5C>T rs779986122 0.00001
NM_001370466.1(NOD2):c.-8-2244A>G rs1255636125 0.00001
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00001
NM_001370466.1(NOD2):c.1182G>A (p.Lys394=) rs749142500 0.00001
NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val) rs776802746 0.00001
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) rs540122692 0.00001
NM_001370466.1(NOD2):c.1677G>T (p.Val559=) rs369719210 0.00001
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val) rs104895442 0.00001
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=) rs1164125645 0.00001
NM_001370466.1(NOD2):c.2387G>A (p.Arg796His) rs768930237 0.00001
NM_001370466.1(NOD2):c.251A>G (p.Gln84Arg) rs746189550 0.00001
NM_001370466.1(NOD2):c.2619C>T (p.Ser873=) rs759227592 0.00001
NM_001370466.1(NOD2):c.2885+6G>T rs546478048 0.00001
NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr) rs1306240431 0.00001
NM_001370466.1(NOD2):c.359G>A (p.Ser120Asn) rs776403451 0.00001
NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu) rs753744335 0.00001
NM_001370466.1(NOD2):c.565+1G>A rs766614906 0.00001
NM_001375808.2(LPIN2):c.1204_1205dup (p.Asp402fs) rs779553737 0.00001
NM_001375808.2(LPIN2):c.1720T>A (p.Ser574Thr) rs148779863 0.00001
NM_001375808.2(LPIN2):c.1745C>T (p.Pro582Leu) rs755110304 0.00001
NM_001375808.2(LPIN2):c.2171A>G (p.Asn724Ser) rs140915714 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_001375808.2(LPIN2):c.2317G>A (p.Ala773Thr) rs750526323 0.00001
NM_001375808.2(LPIN2):c.2463A>G (p.Gln821=) rs1295333459 0.00001
NM_001375808.2(LPIN2):c.2609C>G (p.Ser870Cys) rs769901079 0.00001
NM_001375808.2(LPIN2):c.2674C>T (p.Leu892=) rs1414200193 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.794C>T (p.Thr265Met) rs1334562388 0.00001
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg) rs139798681 0.00001
NM_001375808.2(LPIN2):c.944C>T (p.Ala315Val) rs777659252 0.00001
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys) rs199558534 0.00001
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg) rs774508567 0.00001
NM_001972.4(ELANE):c.555C>T (p.Asn185=) rs765055351 0.00001
NM_001972.4(ELANE):c.756C>T (p.Asn252=) rs2035678048 0.00001
NM_001972.4(ELANE):c.786G>A (p.Pro262=) rs762273987 0.00001
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=) rs775759946 0.00001
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser) rs148554414 0.00001
NM_003664.5(AP3B1):c.1020G>A (p.Val340=) rs145787996 0.00001
NM_003664.5(AP3B1):c.2968G>T (p.Glu990Ter) rs1248215588 0.00001
NM_003664.5(AP3B1):c.2969A>T (p.Glu990Val) rs1384216426 0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) rs535976982 0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) rs773537846 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003978.5(PSTPIP1):c.1106A>G (p.Asp369Gly) rs1291828257 0.00001
NM_003978.5(PSTPIP1):c.155G>A (p.Arg52Gln) rs751618284 0.00001
NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=) rs1435290161 0.00001
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107 0.00001
NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser) rs1397291808 0.00001
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073 0.00001
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205 0.00001
NM_003978.5(PSTPIP1):c.89_99del (p.Leu30fs) rs1263340623 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_005546.4(ITK):c.810A>G (p.Ala270=) rs750585884 0.00001
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln) rs757488006 0.00001
NM_006949.4(STXBP2):c.922A>G (p.Arg308Gly) rs1365138433 0.00001
NM_012275.3(IL36RN):c.277A>G (p.Lys93Glu) rs746109701 0.00001
NM_012275.3(IL36RN):c.317G>C (p.Gly106Ala) rs144420774 0.00001
NM_012275.3(IL36RN):c.381C>T (p.Ala127=) rs760489144 0.00001
NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val) rs1435117815 0.00001
NM_144687.4(NLRP12):c.1281G>A (p.Thr427=) rs528087095 0.00001
NM_144687.4(NLRP12):c.1568C>G (p.Ala523Gly) rs1036210460 0.00001
NM_144687.4(NLRP12):c.2072+5G>T rs1228818815 0.00001
NM_144687.4(NLRP12):c.2104A>G (p.Ser702Gly) rs2091983142 0.00001
NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser) rs548804330 0.00001
NM_144687.4(NLRP12):c.2253G>A (p.Arg751=) rs747968386 0.00001
NM_144687.4(NLRP12):c.2736G>A (p.Thr912=) rs372372169 0.00001
NM_144687.4(NLRP12):c.2757-1G>T rs143515989 0.00001
NM_144687.4(NLRP12):c.2981T>C (p.Leu994Pro) rs769476370 0.00001
NM_144687.4(NLRP12):c.3095T>C (p.Leu1032Pro) rs2091747039 0.00001
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp) rs758607519 0.00001
NM_144687.4(NLRP12):c.623A>C (p.Glu208Ala) rs771274238 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_148919.4(PSMB8):c.180C>T (p.Asp60=) rs757858465 0.00001
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg) rs1007524117 0.00001
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys) rs757343575 0.00001
NM_148919.4(PSMB8):c.407+7G>A rs1020393626 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_148919.4(PSMB8):c.756G>A (p.Lys252=) rs200016893 0.00001
NM_173841.3(IL1RN):c.66C>T (p.Asp22=) rs760885026 0.00001
NM_173842.3(IL1RN):c.192T>C (p.Asn64=) rs146473306 0.00001
NM_173842.3(IL1RN):c.336C>T (p.Asp112=) rs751937390 0.00001
NM_173842.3(IL1RN):c.423C>T (p.Cys141=) rs753224633 0.00001
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val) rs763762181 0.00001
NM_183235.3(RAB27A):c.153+10A>G rs774986160 0.00001
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro) rs1371360853 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_198282.4(STING1):c.174G>T (p.Leu58=) rs763523329 0.00001
NM_198282.4(STING1):c.175C>T (p.Leu59=) rs760161824 0.00001
NM_198282.4(STING1):c.40A>C (p.Arg14=) rs761439213 0.00001
NM_198282.4(STING1):c.411+4T>C rs375733291 0.00001
NM_198282.4(STING1):c.49G>A (p.Gly17Arg) rs759944012 0.00001
NM_198282.4(STING1):c.697G>A (p.Ala233Thr) rs201670175 0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) rs750077345 0.00001
NM_198282.4(STING1):c.877C>T (p.Arg293Trp) rs756770138 0.00001
NM_198282.4(STING1):c.946+1G>T rs375560052 0.00001
NM_198282.4(STING1):c.946+6G>T rs768799195 0.00001
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 0.00001
NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs) rs747180228 0.00001
NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys) rs549768303 0.00001
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=) rs747428323 0.00001
NM_199242.3(UNC13D):c.2637G>A (p.Arg879=) rs1372708758 0.00001
NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln) rs759502435 0.00001
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter) rs766657895 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.731G>A (p.Gly244Glu) rs975849011 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_000081.4(LYST):c.10149T>C (p.Tyr3383=) rs2103101927
NM_000081.4(LYST):c.10374G>A (p.Pro3458=) rs1661644862
NM_000081.4(LYST):c.10940+10_10940+12del rs1659473887
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.2741_2742del (p.Glu914fs) rs2102864339
NM_000081.4(LYST):c.285T>G (p.Asp95Glu) rs747965676
NM_000081.4(LYST):c.45T>C (p.Asp15=) rs1675833748
NM_000081.4(LYST):c.4929A>G (p.Lys1643=) rs750662250
NM_000081.4(LYST):c.5461-3dup rs557545474
NM_000081.4(LYST):c.7895G>C (p.Ser2632Thr) rs1665932391
NM_000081.4(LYST):c.8117T>G (p.Phe2706Cys) rs1260961740
NM_000081.4(LYST):c.8266C>T (p.His2756Tyr) rs2103258935
NM_000081.4(LYST):c.9064A>G (p.Ser3022Gly) rs2103201639
NM_000243.3(MEFV):c.*9C>G rs11466048
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1151T>A (p.Leu384Gln) rs139313647
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1261-10G>C rs767528614
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1429G>A (p.Glu477Lys) rs752413551
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1956C>A (p.Arg652=) rs104895084
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>A (p.Ala744Thr) rs61732874
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.243G>A (p.Leu81=) rs1959114665
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg) rs772332566
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.368A>T (p.His123Leu) rs774737550
NM_000243.3(MEFV):c.380A>G (p.Asn127Ser) rs1471371733
NM_000243.3(MEFV):c.390C>T (p.Asn130=) rs780976880
NM_000243.3(MEFV):c.397C>A (p.Arg133=) rs1206762845
NM_000243.3(MEFV):c.409G>A (p.Gly137Ser) rs895839095
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>A (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.619G>T (p.Ala207Ser) rs1386104492
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) rs759326778
NM_000243.3(MEFV):c.656dup (p.Ala220fs) rs774061491
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.833G>C (p.Arg278Pro) rs104895187
NM_000243.3(MEFV):c.911-8G>A rs2141672126
NM_000243.3(MEFV):c.920C>G (p.Pro307Arg) rs1396233356
NM_000431.4(MVK):c.186G>C (p.Trp62Cys) rs2136218862
NM_000431.4(MVK):c.647A>T (p.Tyr216Phe) rs2136238117
NM_000431.4(MVK):c.733G>T (p.Ala245Ser) rs2136245024
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) rs104895318
NM_000431.4(MVK):c.843G>T (p.Glu281Asp) rs758317084
NM_001065.3(TNFRSF1A):c.-284delC rs140244212
NM_001065.4(TNFRSF1A):c.1058-4G>C rs369451569
NM_001065.4(TNFRSF1A):c.1177G>T (p.Gly393Trp) rs898201669
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.1327G>T (p.Gly443Cys) rs749489763
NM_001065.4(TNFRSF1A):c.1349C>G (p.Ala450Gly) rs1426121771
NM_001065.4(TNFRSF1A):c.208_210del (p.Asn70del) rs2136822662
NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg) rs104895238
NM_001065.4(TNFRSF1A):c.215G>T (p.Cys72Phe) rs104895252
NM_001065.4(TNFRSF1A):c.265T>A (p.Phe89Ile) rs104895245
NM_001065.4(TNFRSF1A):c.472+7G>T rs200194581
NM_001065.4(TNFRSF1A):c.603T>C (p.Asn201=) rs780792039
NM_001065.4(TNFRSF1A):c.626-6C>T rs1275607339
NM_001065.4(TNFRSF1A):c.706T>C (p.Tyr236His) rs2136817274
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) rs200376188
NM_001065.4(TNFRSF1A):c.940G>A (p.Val314Met) rs2136814639
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.1595del (p.Gly532fs) rs2132474852
NM_001083116.3(PRF1):c.225C>T (p.Leu75=) rs2132478434
NM_001083116.3(PRF1):c.391G>T (p.Val131Phe) rs761941942
NM_001083116.3(PRF1):c.402C>T (p.Asp134=) rs564234285
NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu) rs1589233127
NM_001083116.3(PRF1):c.519G>A (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.523del (p.Glu175fs) rs2132477884
NM_001083116.3(PRF1):c.793A>C (p.Asn265His) rs2132476420
NM_001083116.3(PRF1):c.865A>G (p.Thr289Ala) rs2132476275
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter) rs1259291325
NM_001167.4(XIAP):c.862G>T (p.Gly288Ter) rs2148090291
NM_001199138.2(NLRC4):c.-10A>T rs2148946288
NM_001199138.2(NLRC4):c.1015C>G (p.Leu339Val) rs1553347334
NM_001199138.2(NLRC4):c.114A>G (p.Val38=) rs2148943842
NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=) rs2148942481
NM_001199138.2(NLRC4):c.1302G>T (p.Arg434Ser) rs2148942356
NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs) rs1416370111
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=) rs952121500
NM_001199138.2(NLRC4):c.1569C>A (p.Ile523=) rs758432190
NM_001199138.2(NLRC4):c.1616del (p.Asn539fs) rs760634156
NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys) rs760757972
NM_001199138.2(NLRC4):c.1630G>T (p.Glu544Ter) rs774546369
NM_001199138.2(NLRC4):c.1724T>C (p.Phe575Ser) rs2148941971
NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=) rs186059604
NM_001199138.2(NLRC4):c.195C>A (p.Ser65=) rs373028116
NM_001199138.2(NLRC4):c.2156T>C (p.Val719Ala) rs1573491846
NM_001199138.2(NLRC4):c.2196C>A (p.Ile732=) rs2148941535
NM_001199138.2(NLRC4):c.21T>G (p.Asn7Lys) rs145129525
NM_001199138.2(NLRC4):c.2255C>A (p.Pro752Gln) rs147496633
NM_001199138.2(NLRC4):c.2467G>A (p.Glu823Lys) rs2148935058
NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys) rs145285650
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=) rs544474213
NM_001199138.2(NLRC4):c.2659C>A (p.Pro887Thr) rs2148933725
NM_001199138.2(NLRC4):c.2668T>A (p.Cys890Ser) rs544969923
NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile) rs2148927574
NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=) rs1464438302
NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=) rs2148927438
NM_001199138.2(NLRC4):c.333C>G (p.Thr111=) rs747791260
NM_001199138.2(NLRC4):c.459C>G (p.Thr153=) rs1687075064
NM_001199138.2(NLRC4):c.551T>C (p.Met184Thr) rs2148943021
NM_001199138.2(NLRC4):c.648C>A (p.Leu216=) rs1474523535
NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter) rs762280260
NM_001199138.2(NLRC4):c.881C>T (p.Thr294Ile) rs2148942719
NM_001242.5(CD27):c.37G>A (p.Gly13Arg) rs146726863
NM_001242.5(CD27):c.734T>A (p.Ile245Asn) rs2136971508
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) rs180177463
NM_001243133.2(NLRP3):c.1057C>T (p.Leu353=) rs2103108898
NM_001243133.2(NLRP3):c.1140C>T (p.Phe380=) rs2103109353
NM_001243133.2(NLRP3):c.1190T>C (p.Ile397Thr) rs1003706636
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.1562T>A (p.Met521Lys) rs2103111391
NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn) rs1131691891
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) rs121908148
NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser) rs199885115
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=) rs201102829
NM_001243133.2(NLRP3):c.2219G>A (p.Ser740Asn) rs200371066
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001243133.2(NLRP3):c.251A>G (p.Lys84Arg) rs2103084742
NM_001243133.2(NLRP3):c.2610C>T (p.Val870=) rs140618467
NM_001243133.2(NLRP3):c.3044C>T (p.Ala1015Val) rs2103261687
NM_001243133.2(NLRP3):c.627C>T (p.Pro209=) rs554444159
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) rs180177431
NM_001243133.2(NLRP3):c.938T>C (p.Ile313Thr) rs1477164195
NM_001282225.2(ADA2):c.1033G>C (p.Ala345Pro) rs752798667
NM_001282225.2(ADA2):c.1039G>A (p.Asp347Asn) rs2123633860
NM_001282225.2(ADA2):c.1135A>T (p.Thr379Ser) rs561591791
NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup) rs780690814
NM_001282225.2(ADA2):c.1283C>T (p.Thr428Ile) rs2123601456
NM_001282225.2(ADA2):c.133C>G (p.Arg45Gly) rs777683953
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs) rs754904956
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.1465G>A (p.Glu489Lys) rs45497794
NM_001282225.2(ADA2):c.232C>T (p.Leu78=) rs757225675
NM_001282225.2(ADA2):c.26G>A (p.Arg9Gln) rs766367978
NM_001282225.2(ADA2):c.308G>A (p.Arg103Lys) rs1477354791
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu) rs865858930
NM_001366385.1(CARD14):c.*165CA[2] rs201730862
NM_001366385.1(CARD14):c.-8G>T rs367878757
NM_001366385.1(CARD14):c.1154T>G (p.Leu385Arg) rs2144267834
NM_001366385.1(CARD14):c.1170C>A (p.Phe390Leu) rs74951924
NM_001366385.1(CARD14):c.1329C>A (p.Ser443Arg) rs763493440
NM_001366385.1(CARD14):c.1356+8del rs2144281783
NM_001366385.1(CARD14):c.1371G>A (p.Ser457=) rs62074378
NM_001366385.1(CARD14):c.1530G>A (p.Pro510=) rs376285944
NM_001366385.1(CARD14):c.1590G>C (p.Thr530=) rs138100360
NM_001366385.1(CARD14):c.1865C>G (p.Ala622Gly) rs2144428625
NM_001366385.1(CARD14):c.1929C>T (p.Leu643=) rs2144430849
NM_001366385.1(CARD14):c.1979-4T>C rs2144447186
NM_001366385.1(CARD14):c.2153C>G (p.Ala718Gly) rs747104642
NM_001366385.1(CARD14):c.249C>T (p.Asn83=) rs148170776
NM_001366385.1(CARD14):c.2591A>G (p.Tyr864Cys) rs1196800518
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001366385.1(CARD14):c.2933T>C (p.Leu978Pro) rs2144639860
NM_001366385.1(CARD14):c.484C>G (p.Leu162Val) rs1180184443
NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn) rs114688446
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile) rs114688446
NM_001366385.1(CARD14):c.827C>G (p.Ser276Trp) rs149318654
NM_001366385.1(CARD14):c.898G>T (p.Glu300Ter) rs2144249046
NM_001366385.1(CARD14):c.921G>A (p.Ser307=) rs753922155
NM_001366385.1(CARD14):c.931C>A (p.Arg311=) rs145167842
NM_001366385.1(CARD14):c.931C>T (p.Arg311Trp) rs145167842
NM_001370466.1(NOD2):c.-8-2193G>A rs886052043
NM_001370466.1(NOD2):c.-8-2242G>A rs2150776459
NM_001370466.1(NOD2):c.1088A>G (p.Asp363Gly) rs769622495
NM_001370466.1(NOD2):c.1167G>A (p.Leu389=) rs2150809554
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp) rs104895492
NM_001370466.1(NOD2):c.1345A>C (p.Thr449Pro) rs925816831
NM_001370466.1(NOD2):c.1434del (p.Ser479fs) rs754761524
NM_001370466.1(NOD2):c.1445C>A (p.Thr482Asn) rs773580517
NM_001370466.1(NOD2):c.1462C>T (p.Leu488=) rs1318205250
NM_001370466.1(NOD2):c.1605C>T (p.Cys535=) rs2150811696
NM_001370466.1(NOD2):c.162C>T (p.Leu54=) rs1963835517
NM_001370466.1(NOD2):c.255C>T (p.Ala85=) rs770046355
NM_001370466.1(NOD2):c.2595C>T (p.Ala865=) rs375012324
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.2835A>G (p.Val945=) rs756968128
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly) rs771490210
NM_001370466.1(NOD2):c.526G>A (p.Val176Ile) rs369764782
NM_001370466.1(NOD2):c.649G>A (p.Glu217Lys) rs1964420065
NM_001370466.1(NOD2):c.722C>T (p.Pro241Leu) rs1964426730
NM_001370466.1(NOD2):c.788A>T (p.Asp263Val) rs2150807904
NM_001370466.1(NOD2):c.873A>C (p.Ala291=) rs199951979
NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu) rs768775316
NM_001375808.2(LPIN2):c.*5G>A rs531230516
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1265A>G (p.Lys422Arg) rs2144177505
NM_001375808.2(LPIN2):c.1428C>T (p.Gly476=) rs2077209708
NM_001375808.2(LPIN2):c.1442G>C (p.Gly481Ala) rs377661526
NM_001375808.2(LPIN2):c.1626A>C (p.Thr542=) rs1568519739
NM_001375808.2(LPIN2):c.1726G>A (p.Glu576Lys) rs946046520
NM_001375808.2(LPIN2):c.1756G>A (p.Asp586Asn) rs2144139779
NM_001375808.2(LPIN2):c.2011C>T (p.Arg671Cys) rs773597485
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=) rs749526038
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=) rs781016213
NM_001375808.2(LPIN2):c.220G>A (p.Val74Met) rs755936540
NM_001375808.2(LPIN2):c.2327+7C>T rs2144118376
NM_001375808.2(LPIN2):c.2410C>A (p.Pro804Thr) rs1290776094
NM_001375808.2(LPIN2):c.2451T>C (p.Tyr817=) rs2144112680
NM_001375808.2(LPIN2):c.2506G>A (p.Gly836Ser) rs2077042449
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.2628G>A (p.Glu876=) rs2144110086
NM_001375808.2(LPIN2):c.359C>A (p.Thr120Asn) rs562075898
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser) rs763550824
NM_001375808.2(LPIN2):c.436A>G (p.Ile146Val) rs2143107101
NM_001375808.2(LPIN2):c.501G>C (p.Lys167Asn) rs751939691
NM_001375808.2(LPIN2):c.572A>G (p.Lys191Arg) rs778040063
NM_001375808.2(LPIN2):c.699-8C>G rs1568540842
NM_001972.4(ELANE):c.13C>T (p.Arg5Cys) rs942026381
NM_001972.4(ELANE):c.151G>A (p.Gly51Arg) rs1320267189
NM_001972.4(ELANE):c.159C>G (p.His53Gln) rs2145144118
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) rs137854447
NM_001972.4(ELANE):c.228C>G (p.Asn76Lys) rs746799175
NM_001972.4(ELANE):c.327C>T (p.Tyr109=) rs1339843779
NM_001972.4(ELANE):c.367-10_367-9dup rs750610201
NM_001972.4(ELANE):c.498C>T (p.Ala166=) rs2145148773
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg) rs780046041
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp) rs2145143878
NM_001972.4(ELANE):c.744C>T (p.Arg248=) rs2035677633
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) rs201224216
NM_001972.4(ELANE):c.91del (p.Val31fs) rs2145143911
NM_001972.4(ELANE):c.93G>T (p.Val31=) rs894935356
NM_002351.5(SH2D1A):c.201+3A>G rs2147531380
NM_002351.5(SH2D1A):c.261del (p.Gln88fs) rs2147534056
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353
NM_003664.5(AP3B1):c.1230+7G>A rs1298715924
NM_003664.5(AP3B1):c.1688A>C (p.Lys563Thr) rs2112301217
NM_003664.5(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=) rs35976098
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.853G>A (p.Asp285Asn) rs2112414243
NM_003764.4(STX11):c.*6C>T rs777558264
NM_003764.4(STX11):c.-5G>A rs751130386
NM_003764.4(STX11):c.221C>T (p.Thr74Met) rs540150447
NM_003764.4(STX11):c.24_26del (p.Leu9del) rs760492745
NM_003764.4(STX11):c.433G>T (p.Asp145Tyr) rs527278192
NM_003764.4(STX11):c.99C>G (p.Ile33Met) rs756068979
NM_003978.5(PSTPIP1):c.-421CCTG[6] rs55909412
NM_003978.5(PSTPIP1):c.1024G>A (p.Glu342Lys) rs774437204
NM_003978.5(PSTPIP1):c.1040C>A (p.Ala347Asp) rs374682350
NM_003978.5(PSTPIP1):c.1086G>A (p.Gln362=) rs528187669
NM_003978.5(PSTPIP1):c.111A>G (p.Lys37=) rs2152678775
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1177G>A (p.Glu393Lys) rs781437901
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=) rs538042433
NM_003978.5(PSTPIP1):c.25G>A (p.Asp9Asn) rs2075560223
NM_003978.5(PSTPIP1):c.429A>G (p.Thr143=) rs1141040
NM_003978.5(PSTPIP1):c.445del (p.Arg149fs) rs1441606629
NM_003978.5(PSTPIP1):c.46T>C (p.Phe16Leu) rs2152678710
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) rs553718554
NM_003978.5(PSTPIP1):c.642G>C (p.Glu214Asp) rs2076390591
NM_003978.5(PSTPIP1):c.768G>T (p.Leu256=) rs2152689079
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.893G>A (p.Ser298Asn) rs1307593129
NM_003978.5(PSTPIP1):c.916G>A (p.Gly306Ser) rs374204996
NM_003982.4(SLC7A7):c.1095+6T>C rs531862402
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His) rs201305817
NM_003982.4(SLC7A7):c.179A>G (p.Lys60Arg) rs2039348646
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=) rs750720946
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val) rs539843065
NM_005546.4(ITK):c.1588T>G (p.Phe530Val) rs2113776036
NM_005546.4(ITK):c.439G>A (p.Asp147Asn) rs1463419892
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1530C>G (p.Ala510=) rs755717157
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.680_685del (p.Arg227_Ser228del) rs2146217668
NM_012275.3(IL36RN):c.*15dup rs748582624
NM_012275.3(IL36RN):c.29+3G>A rs976893250
NM_012275.3(IL36RN):c.369G>A (p.Thr123=) rs28938778
NM_012388.4(BLOC1S6):c.400-8dup rs373061008
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser) rs775510569
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_144687.4(NLRP12):c.104C>A (p.Ala35Glu) rs373357561
NM_144687.4(NLRP12):c.1051C>T (p.His351Tyr) rs769279430
NM_144687.4(NLRP12):c.1075C>T (p.His359Tyr) rs2122672202
NM_144687.4(NLRP12):c.1151C>T (p.Ala384Val) rs1006682366
NM_144687.4(NLRP12):c.115G>A (p.Gly39Arg) rs2122812698
NM_144687.4(NLRP12):c.1302G>A (p.Val434=) rs2092046266
NM_144687.4(NLRP12):c.1340C>T (p.Pro447Leu) rs773565080
NM_144687.4(NLRP12):c.1391_1408del (p.Leu464_Leu469del) rs2122665998
NM_144687.4(NLRP12):c.1538T>C (p.Ile513Thr) rs759658980
NM_144687.4(NLRP12):c.155G>A (p.Gly52Asp) rs758138704
NM_144687.4(NLRP12):c.1587C>G (p.Asp529Glu) rs781712648
NM_144687.4(NLRP12):c.1685T>G (p.Phe562Cys) rs2122661467
NM_144687.4(NLRP12):c.1756C>A (p.His586Asn) rs772704000
NM_144687.4(NLRP12):c.176_183del (p.Leu59fs) rs1307106759
NM_144687.4(NLRP12):c.1820A>G (p.Gln607Arg) rs370229918
NM_144687.4(NLRP12):c.1854C>T (p.Tyr618=) rs142487599
NM_144687.4(NLRP12):c.1908C>A (p.Ile636=) rs1454297839
NM_144687.4(NLRP12):c.1948T>C (p.Ser650Pro) rs769279292
NM_144687.4(NLRP12):c.1A>T (p.Met1Leu) rs1386409873
NM_144687.4(NLRP12):c.2032G>T (p.Ala678Ser) rs1204554159
NM_144687.4(NLRP12):c.2072+2_2072+3insTT rs104895565
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144687.4(NLRP12):c.2186_2187insTT (p.Val730fs) rs1600700389
NM_144687.4(NLRP12):c.2188dup (p.Val730fs) rs771632319
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_144687.4(NLRP12):c.2244-10del rs2122612301
NM_144687.4(NLRP12):c.2258G>T (p.Arg753Leu) rs148745997
NM_144687.4(NLRP12):c.2337C>T (p.Gly779=) rs2091941014
NM_144687.4(NLRP12):c.2386C>T (p.His796Tyr) rs2122608585
NM_144687.4(NLRP12):c.2450A>T (p.Gln817Leu) rs755657075
NM_144687.4(NLRP12):c.2464G>A (p.Val822Met) rs2122593596
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2470G>A (p.Gly824Ser) rs372647059
NM_144687.4(NLRP12):c.2487G>C (p.Leu829=) rs143499267
NM_144687.4(NLRP12):c.2599C>T (p.Arg867Cys) rs149373778
NM_144687.4(NLRP12):c.265G>A (p.Gly89Arg) rs753292620
NM_144687.4(NLRP12):c.2766C>T (p.Ile922=) rs1430424840
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp) rs104895570
NM_144687.4(NLRP12):c.2905G>C (p.Ala969Pro) rs754537076
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690
NM_144687.4(NLRP12):c.3025G>T (p.Ala1009Ser) rs1256306834
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.3092T>A (p.Val1031Asp) rs2122504184
NM_144687.4(NLRP12):c.3159A>G (p.Thr1053=) rs747279509
NM_144687.4(NLRP12):c.371-8T>C rs2122684543
NM_144687.4(NLRP12):c.467G>T (p.Arg156Leu) rs753636285
NM_144687.4(NLRP12):c.539G>A (p.Gly180Asp) rs553635077
NM_144687.4(NLRP12):c.606A>G (p.Pro202=) rs747390376
NM_144687.4(NLRP12):c.616C>T (p.Arg206Cys) rs111754022
NM_144687.4(NLRP12):c.725G>A (p.Gly242Asp) rs2122678718
NM_144687.4(NLRP12):c.733_736del (p.Asp245fs) rs2092061896
NM_144687.4(NLRP12):c.882C>T (p.Asp294=) rs147080557
NM_144687.4(NLRP12):c.962A>C (p.Glu321Ala) rs2092055408
NM_148919.4(PSMB8):c.112C>A (p.Arg38=) rs2127380261
NM_148919.4(PSMB8):c.240C>T (p.Phe80=) rs529946385
NM_148919.4(PSMB8):c.392T>C (p.Leu131Pro) rs1295954266
NM_148919.4(PSMB8):c.408G>C (p.Arg136Ser) rs764187500
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter) rs2127377117
NM_148919.4(PSMB8):c.548T>C (p.Leu183Pro) rs2127376494
NM_173841.3(IL1RN):c.10+2T>C rs2104433206
NM_173841.3(IL1RN):c.19T>C (p.Tyr7His) rs2104437414
NM_173841.3(IL1RN):c.44G>A (p.Gly15Glu) rs1573288353
NM_173842.3(IL1RN):c.207A>G (p.Glu69=) rs1274769729
NM_173842.3(IL1RN):c.288G>A (p.Lys96=) rs1442053811
NM_173842.3(IL1RN):c.318+9A>T rs758726151
NM_173842.3(IL1RN):c.422G>C (p.Cys141Ser) rs2104462545
NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln) rs758363942
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) rs2140989874
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.422_424del (p.Arg141_Val142delinsIle) rs1478402636
NM_183235.3(RAB27A):c.596T>A (p.Val199Glu) rs778390086
NM_183235.3(RAB27A):c.609T>C (p.Gly203=) rs2140890943
NM_198282.4(STING1):c.1013del (p.Lys338fs) rs765347385
NM_198282.4(STING1):c.1104G>A (p.Met368Ile) rs1215030543
NM_198282.4(STING1):c.1124G>A (p.Arg375His) rs117897081
NM_198282.4(STING1):c.159C>A (p.Ser53=) rs2152094475
NM_198282.4(STING1):c.227+10T>A rs1392211552
NM_198282.4(STING1):c.272G>A (p.Cys91Tyr) rs2152094379
NM_198282.4(STING1):c.413G>C (p.Gly138Ala) rs889105527
NM_198282.4(STING1):c.498A>T (p.Gly166=) rs1713610226
NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe) rs758867274
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.1813_1830del (p.Leu605_Arg610del) rs2143878241
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=) rs2143877155
NM_199242.3(UNC13D):c.1947G>A (p.Trp649Ter) rs868318523
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=) rs1354115593
NM_199242.3(UNC13D):c.2261A>C (p.His754Pro) rs1446115570
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199242.3(UNC13D):c.2410T>C (p.Tyr804His) rs2143871262
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_199242.3(UNC13D):c.2696G>A (p.Arg899Gln) rs1456196107
NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup) rs772459675
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.3(UNC13D):c.3097del (p.Glu1033fs) rs2143860891
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg) rs1232542382
NM_199242.3(UNC13D):c.321+9G>A rs779684660
NM_199242.3(UNC13D):c.519G>C (p.Thr173=) rs370278536
NM_199242.3(UNC13D):c.570-2A>T rs770325118
NM_199242.3(UNC13D):c.570-6A>C rs2143894697
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_199242.3(UNC13D):c.907C>T (p.His303Tyr) rs2064936586

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